genemap2.txt
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# Copyright (c) 1966-2018 Johns Hopkins University. Use of this file adheres to the terms specified at https://omim.org/help/agreement.
# Generated: 2018-04-14
# See end of file for additional documentation on specific fields
# Chromosome Genomic Position Start Genomic Position End Cyto Location Computed Cyto Location Mim Number Gene Symbols Gene Name Approved Symbol Entrez Gene ID Ensembl Gene ID Comments Phenotypes Mouse Gene Symbol/ID
chr1 0 27600000 1p36 607413 AD7CNTP Alzheimer disease neuronal thread protein
chr1 0 27600000 1p36 612367 ALPQTL2 Alkaline phosphatase, plasma level of, QTL 2 100196914 linkage with rs1780324 {Alkaline phosphatase, plasma level of, QTL 2}, 612367 (2)
chr1 0 123400000 1p 606788 ANON1 Anorexia nervosa, susceptibility to, 1 171514 {Anorexia nervosa, susceptibility to, 1}, 606788 (2)
chr1 0 27600000 1p36 605462 BCC1 Basal cell carcinoma, susceptibility to, 1 100307118 associated with rs7538876 {Basal cell carcinoma, susceptibility to, 1}, 605462 (2)
chr1 0 27600000 1p36 606928 BMND3 Bone mineral density QTL 3 246259 ?another locus at 3p21 [Bone mineral density QTL 3], 606928 (2)
chr1 0 27600000 1p36 155600 CMM, MLM, DNS Cutaneous malignant melanoma/dysplastic nevus CMM 1243 some linkage studies negative; see 9p {Melanoma, cutaneous malignant, 1}, 155600 (2), Autosomal dominant
chr1 0 20100000 1pter-p36.13 115665 CTRCT8, CCV Cataract, congenital, Volkmann type CCV 7792 linked to Rh in Scottish family Cataract 8, multiple types, 115665 (2), Autosomal dominant
chr1 0 27600000 1p36 607872 DEL1p36, C1DELp36 Chromosome 1p36 deletion syndrome contiguous gene deletion syndrome Chromosome 1p36 deletion syndrome, 607872 (4), Isolated cases
chr1 0 46300000 1p36-p34 608995 DYX8 Dyslexia, susceptibility to, 8 DYX8 406874 between D1S552 and D1S1622 {Dyslexia, susceptibility to, 8}, 608995 (2), Autosomal dominant, Multifactorial
chr1 0 27600000 1pter-p36 131190 ERPL1, HLM2 Endogenous retroviral pol gene-like sequence 1 (oncogene HLM2)
chr1 0 27600000 1p36 605225 IBD7 Inflammatory bowel disease 7 IBD7 57042 associated with rs6426833 {Inflammatory bowel disease 7}, 605225 (2)
chr1 0 27600000 1p36 612596 MS4 Multiple sclerosis, susceptibility to, 4 100271696 associated with rs10492972 {Multiple sclerosis, susceptibility to, 4}, 612596 (2)
chr1 0 27600000 1p36 610320 MYP14 Myopia 14 MYP14 100359407 between D1S552 and D1S1622 Myopia 14, 610320 (2)
chr1 0 123400000 1p 605606 PSORS7 Psoriasis susceptibility 7 PSORS7 65245 {Psoriasis susceptibility 7}, 605606 (2)
chr1 0 7100000 1p36.3 604008 PTPRZ2 Protein-tyrosine phosphatase, receptor-type, zeta-2 PTPRZ2 5804
chr1 0 94300000 1pter-p22.1 154280 SAI1, MTS1, TFS1 Suppression of anchorage independence-1 (malignant transformation suppression-1) SAI1 6298
chr1 0 27600000 1p36 607317 SCAR4, SCASI Spinocerebellar ataxia, autosomal recessive 4 SCASI 260415 Spinocerebellar ataxia, autosomal recessive 4, 607317 (2), Autosomal recessive
chr1 925740 944580 1p36.33 1p36.33 616765 SAMD11, MRS Sterile alpha motif domain-containing protein 11 SAMD11 148398 ENSG00000187634 Samd11 (MGI:2446220)
chr1 944202 959298 1p36.33 1p36.33 610770 NOC2L, NIR Nucleolar complex-associated protein 2, S. cerevisiae, homolog of NOC2L 26155 ENSG00000188976 Noc2l (MGI:1931051)
chr1 975197 982116 1p36.33 1p36.33 615921 PERM1, C1orf170 PPARGC1-and ESRR-induced regulator, muscle, 1 PERM1 84808 ENSG00000187642
chr1 998961 1001051 1p36.31 1p36.33 608060 HES4 Hairy/enhancer of split, Drosophila, homolog of, 4 HES4 57801 ENSG00000188290
chr1 1013466 1014539 1p36.33 1p36.33 147571 ISG15, G1P2, IFI15, IMD38 ISG15 ubiquitin-like modifier ISG15 9636 ENSG00000187608 Immunodeficiency 38, 616126 (3), Autosomal recessive Isg15 (MGI:1855694)
chr1 1020101 1056118 1pter-p32 1p36.33 103320 AGRN, CMS8 Agrin AGRN 375790 ENSG00000188157 Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive Agrn (MGI:87961)
chr1 1167103 1167197 1p36.33 1p36.33 612091 MIR200B, MIRN200B Micro RNA 200B MIR200B 406984
chr1 1167862 1167951 1p36.33 1p36.33 612090 MIR200A, MIRN200A Micro RNA 200A MIR200A 406983
chr1 1169004 1169086 1p36.33 1p36.33 612094 MIR429, MIRN429 Micro RNA 429 MIR429 554210
chr1 1203507 1207900 1p36.3 1p36.33 603905 TNFRSF18, AITR, GITR Tumor necrosis factor receptor superfamily, member 18 TNFRSF18 8784 ENSG00000186891 Tnfrsf18 (MGI:894675)
chr1 1211325 1216811 1p36 1p36.33 600315 TNFRSF4, TXGP1L, OX40, ACT35, IMD16 Tumor necrosis factor receptor superfamily, member 4 TNFRSF4 7293 ENSG00000186827 mutation identified in 1 IMD16 family ?Immunodeficiency 16, 615593 (3), Autosomal recessive Tnfrsf4 (MGI:104512)
chr1 1216907 1232066 1p36.33 1p36.33 614282 SDF4, CAB45 Stromal cell-derived factor 4 SDF4 51150 ENSG00000078808 Sdf4 (MGI:108079)
chr1 1232248 1235040 1p36.3 1p36.33 615291 B3GALT6, SEMDJL1, EDSSPD2 UDP-Gal:beta-Gal beta-1,3-galactosyltransferase polypeptide 6 B3GALT6 126792 ENSG00000176022 Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3), Autosomal recessive B3galt6 (MGI:2152819)
chr1 1242445 1247217 1p36.33 1p36.33 616593 FAM132A, C1QDC2, C1QTNF12 Family with sequence similarity 132, member A C1QTNF12 388581 ENSG00000184163 C1qtnf12 (MGI:1914639)
chr1 1280435 1292028 1p36.3-p36.2 1p36.33 601328 SCNN1D Sodium channel, voltage-gated, type I, delta polypeptide SCNN1D 6339 ENSG00000162572
chr1 1311584 1324686 1p36.33 1p36.33 611354 CPSF3L, INTS11, RC68 Cleavage and polyadenylation-specific factor 3-like INTS11 54973 ENSG00000127054 Ints11 (MGI:1919207)
chr1 1324756 1328895 1p36.33 1p36.33 615467 GLTPD1, CPTP Glycolipid transfer protein domain-containing protein 1 CPTP 80772 ENSG00000224051 Cptp (MGI:1933107)
chr1 1331323 1335319 1p36.33 1p36.33 605865 TAS1R3, T1R3 Taste receptor type 1, member 3 TAS1R3 83756 ENSG00000169962 Tas1r3 (MGI:1933547)
chr1 1335277 1349141 1p36 1p36.33 601365 DVL1, DRS2 Dishevelled 1 (homologous to Drosophila dsh) DVL1 1855 ENSG00000107404 Robinow syndrome, autosomal dominant 2, 616331 (3), Autosomal dominant Dvl1 (MGI:94941)
chr1 1352688 1363540 1p36.33 1p36.33 617293 MXRA8, ASP3 Matrix remodeling-associated protein 8 MXRA8 54587 ENSG00000162576 Mxra8 (MGI:1922011)
chr1 1373729 1375515 1p36.3 1p36.33 609183 AURKAIP1, AKIP, AIP Aurora kinase A-interacting protein 1 AURKAIP1 54998 ENSG00000175756 Aurkaip1 (MGI:1913327)
chr1 1385710 1399341 1p36.33 1p36.33 613482 CCNL2 Cyclin L2 CCNL2 81669 ENSG00000221978 Ccnl2 (MGI:1927119)
chr1 1401895 1407312 1p36.3-p35.2 1p36.33 611833 MRPL20 Mitochondrial ribosomal protein L20 MRPL20 55052 ENSG00000242485 Mrpl20 (MGI:2137221)
chr1 1435522 1442881 1p36.3 1p36.33 611901 VWA1, WARP von Willebrand factor A domain-containing protein 1 VWA1 64856 ENSG00000179403 Vwa1 (MGI:2179729)
chr1 1449688 1470157 1p36.33 1p36.33 617227 ATAD3C ATPase family, AAA domain-containing, member 3C ATAD3C 219293 ENSG00000215915
chr1 1471731 1509465 1p36.33 1p36.33 612317 ATAD3B, TOB3, KIAA1273 ATPase family, AAA domain-containing, member 3B ATAD3B 83858 ENSG00000160072
chr1 1512142 1534686 1p36.33 1p36.33 612316 ATAD3A, HAYOS ATPase family, AAA domain-containing, member 3A ATAD3A 55210 ENSG00000197785 one family with AR inheritance reported Harel-Yoon syndrome, 617183 (3), Autosomal recessive, Autosomal dominant Atad3a (MGI:1919214)
chr1 1534777 1540359 1p36.33 1p36.33 616101 TMEM240, C1orf70, SCA21 Transmembrane protein 240 TMEM240 339453 ENSG00000205090 Spinocerebellar ataxia 21, 607454 (3), Autosomal dominant Tmem240 (MGI:3648074)
chr1 1541672 1574881 1p36.33 1p36.33 617680 SSU72 Ssu72, S. cerevisiae, homolof of SSU72 29101 ENSG00000160075 Ssu72 (MGI:1916241)
chr1 1613729 1630609 1p36.32 1p36.33 611141 MIB2 Mindbomb, Drosophila, homolog of, 2 MIB2 142678 ENSG00000197530 Mib2 (MGI:2679684)
chr1 1631680 1635637 1p36.3 1p36.33 603321 MMP23B, MMP22 Matrix metalloproteinase 23B MMP23B 8510 ENSG00000189409 Mmp23 (MGI:1347361)
chr1 1635225 1659618 1p36.3 1p36.33 176873 CDK11B, CDC2L1, P58, CDK11 Cyclin-dependent kinase 11B CDK11B 984 ENSG00000248333
chr1 1699938 1701807 1p36.3 1p36.33 603320 MMP23A, MMP21, MIFR Matrix metalloproteinase 23A MMP23A 8511
chr1 1702382 1724564 1p36.3 1p36.33 116951 CDK11A, CDC2L2 Cyclin-dependent kinase 11A CDK11A 728642 ENSG00000008128 Cdk11b (MGI:88353)
chr1 1751231 1780508 1p36.33-p36.21 1p36.33 611616 NADK NAD kinase NADK 65220 ENSG00000008130 Nadk (MGI:2183149)
chr1 1785284 1891116 1pter-p31.2 1p36.33 139380 GNB1, MRD42 Guanine nucleotide-binding protein, beta polypeptide-1 GNB1 2782 ENSG00000078369 Leukemia, acute lymphoblastic, somatic, 613065 (3); Mental retardation, autosomal dominant 42, 616973 (3), Autosomal dominant Gnb1 (MGI:95781)
chr1 1913750 1917293 1p36.33 1p36.33 610171 CALML6, CAGLP Calmodulin-like 6 CALML6 163688 ENSG00000169885
chr1 2019328 2030752 1p36.3 1p36.33 137163 GABRD, GEFSP5, EIG10, EJM7 Gamma-aminobutyric acid (GABA) A receptor, delta GABRD 2563 ENSG00000187730 {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, 10}, 613060 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3), Autosomal dominant Gabrd (MGI:95622)
chr1 2050469 2185398 1p36 1p36.33 176982 PRKCZ, PKC2 Protein kinase C, zeta form PRKCZ 5590 ENSG00000067606 Prkcz (MGI:97602)
chr1 2184456 2212719 1p36.33 1p36.33 615183 C1orf86, FAAP20 Chromosome 1 open reading frame 86 FAAP20 199990 ENSG00000162585 Faap20 (MGI:1914763)
chr1 2228694 2310212 1p36.3 1p36.33-p36.32 164780 SKI, SGS Avian sarcoma viral (v-ski) oncogene homolog SKI 6497 ENSG00000157933 formerly mapped to 1q22-q24 Shprintzen-Goldberg syndrome, 182212 (3), Autosomal dominant Ski (MGI:98310)
chr1 2300000 20100000 1p36.32-p36.13 607671 DYT13 Dystonia 13, torsion DYT13 93983 Dystonia 13, torsion, 607671 (2), Autosomal dominant
chr1 2300000 29900000 1p36.32-p35.3 606242 KONDS Kondoh syndrome (mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism) 100653373 linked to rs966321 and rs1441834 Kondoh syndrome, 606242 (2), Autosomal recessive
chr1 2404801 2412573 1p36.32 1p36.32 602859 PEX10, NALD, PBD6A, PBD6B Peroxisome biogenesis factor 10 PEX10 5192 ENSG00000157911 Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3), Autosomal recessive; Peroxisome biogenesis disorder 6B, 614871 (3), Autosomal recessive Pex10 (MGI:2684988)
chr1 2412480 2505529 1p36.32 1p36.32 612836 PLCH2, PLCL4 Phospholipase C, eta-2 PLCH2 9651 ENSG00000149527 Plch2 (MGI:2443078)
chr1 2508530 2526627 1p36 1p36.32 606162 PANK4 Pantothenate kinase 4 PANK4 55229 ENSG00000157881 Pank4 (MGI:2387466)
chr1 2528744 2530553 1p36.31 1p36.32 607348 HES5 Hairy/enhancer of split, Drosophila, homolog of, 5 HES5 388585 ENSG00000197921 Hes5 (MGI:104876)
chr1 2556364 2565621 1p36.3-p36.2 1p36.32 602746 TNFRSF14, HVEM, TR2 Tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) TNFRSF14 8764 ENSG00000157873 Tnfrsf14 (MGI:2675303)
chr1 3021481 3022902 1p36.32 1p36.32 608535 ACTRT2, ARPT2, ARPM2 Actin-related protein T2 ACTRT2 140625 ENSG00000169717 Actrt2 (MGI:1920603)
chr1 3068226 3438620 1p36.3 1p36.32 605557 PRDM16, MEL1, LVNC8, CMD1LL PR domain-containing protein 16 PRDM16 63976 ENSG00000142611 Cardiomyopathy, dilated, 1LL, 615373 (3), Autosomal dominant; Left ventricular noncompaction 8, 615373 (3), Autosomal dominant Prdm16 (MGI:1917923)
chr1 3487941 3624769 1p36.3 1p36.32 604266 MEGF6, EGFL3 Multiple epidermal growth factor-like domains 6 MEGF6 1953 ENSG00000162591 Megf6 (MGI:1919351)
chr1 3560694 3560789 1p36.32 1p36.32 615148 MIR551A Micro RNA 551A MIR551A 693135
chr1 3624991 3630130 1p36.32 1p36.32 611460 TPRG1L, FAM79A Tumor protein p63 regulated 1-like TPRG1L 127262 ENSG00000158109 Tprgl (MGI:1915058)
chr1 3630766 3650106 1p36.3 1p36.32 606040 WDR8 WD repeat-containing protein 8 WRAP73 49856 ENSG00000116213 Wrap73 (MGI:1891749)
chr1 3652564 3736200 1p36 1p36.32 601990 TP73 p53-related protein TP73 7161 ENSG00000078900 imprinted ?Neuroblastoma (1) Trp73 (MGI:1336991)
chr1 3772760 3775981 1p36 1p36.32 615242 SMIM1, VEL Small integral membrane protein 1 SMIM1 388588 ENSG00000235169 [Blood group, Vel system], 615264 (3), Autosomal recessive Smim1 (MGI:1916109)
chr1 3812080 3857232 1p36.32 1p36.32 616690 CEP104, GLYBP, KIAA0562, JBTS25 Centrosomal protein, 104kD CEP104 9731 ENSG00000116198 Joubert syndrome 25, 616781 (3), Autosomal recessive Cep104 (MGI:2687282)
chr1 3857266 3885428 1p36.3 1p36.32 601883 DFFB, CAD, DFF2 DNA fragmentation factor, 40kD, beta subunit DFFB 1677 ENSG00000169598 Dffb (MGI:1196287)
chr1 4654774 4792517 1p36.32 1p36.32 610972 AJAP1, SHREW1 Adherens junction-associated protein 1 AJAP1 55966 ENSG00000196581 Ajap1 (MGI:2685419)
chr1 5300000 20100000 1p36.31-p36.13 614414 DFNB96 Deafness, autosomal recessive 96 DFNB96 100861440 between rs3817914 and rs477558 Deafness, autosomal recessive 96, 614414 (2), Autosomal recessive
chr1 5862807 5992472 1p36 1p36.31 607215 NPHP4, SLSN4 Nephrocystin 4 NPHP4 261734 ENSG00000131697 Nephronophthisis 4, 606966 (3), Autosomal recessive; Senior-Loken syndrome 4, 606996 (3), Autosomal recessive Nphp4 (MGI:2384210)
chr1 5992297 6101192 1p36.3 1p36.31 601142 KCNAB2, KCNA2B Potassium voltage-gated channel, shaker-related subfamily, beta member 2 KCNAB2 8514 ENSG00000069424 Kcnab2 (MGI:109239)
chr1 6101786 6180133 1p36 1p36.31 610771 CHD5 Chromodomain helicase DNA-binding protein 5 CHD5 26038 ENSG00000116254 Chd5 (MGI:3036258)
chr1 6185019 6199618 1p36.31 1p36.31 180474 RPL22, EAP Ribosomal protein L22 RPL22 6146 ENSG00000116251 fused with AML1 in t(3;21) Rpl22 (MGI:99262)
chr1 6206003 6221298 1p36.31 1p36.31 616923 RNF207, C1orf188 RING finger protein 207 RNF207 388591 ENSG00000158286 Rnf207 (MGI:2684989)
chr1 6221192 6235983 1p36 1p36.31 605851 ICMT Isoprenylcysteine carboxylmethyltransferase ICMT 23463 ENSG00000116237 Icmt (MGI:1888594)
chr1 6244191 6245577 1p36.31 1p36.31 609971 HES3 Hairy/enhancer of split, Drosophila, homolog of, 3 HES3 390992 ENSG00000173673 Hes3 (MGI:104877)
chr1 6247345 6260974 1p36.31 1p36.31 614269 GPR153 G protein-coupled receptor 153 GPR153 387509 ENSG00000158292 Gpr153 (MGI:1916157)
chr1 6264271 6393765 1p36 1p36.31 602587 ACOT7, BACH, LACH Acyl-CoA thioesterase 7 ACOT7 11332 ENSG00000097021 Acot7 (MGI:1917275)
chr1 6415231 6419918 1p36.31 1p36.31 609970 HES2 Hairy/enhancer of split, Drosophila, homolog of, 2 HES2 54626 ENSG00000069812 Hes2 (MGI:1098624)
chr1 6424775 6461366 1p36.3-p36.1 1p36.31 606351 ESPN Espin, mouse, homolog of ESPN 83715 ENSG00000187017 Deafness, autosomal recessive 36, 609006 (3), Autosomal recessive; Deafness, neurosensory, without vestibular involvement, autosomal dominant (3) Espn (MGI:1861630)
chr1 6461150 6466194 1p36.3 1p36.31 603366 TNFRSF25, TNFRSF12, DR3, LARD Tumor necrosis factor receptor superfamily, member 25 TNFRSF25 8718 ENSG00000215788 Tnfrsf25 (MGI:1934667)
chr1 6466091 6520060 1p36 1p36.31 611101 PLEKHG5, KIAA0720, DSMA4, CMTRIC Pleckstrin homology domain-containing protein, family G, member 5 PLEKHG5 57449 ENSG00000171680 Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3), Autosomal recessive; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3), Autosomal recessive Plekhg5 (MGI:2652860)
chr1 6555277 6579756 1p36 1p36.31 606225 TAS1R1, T1R1 Taste receptor type 1, member 1 TAS1R1 80835 ENSG00000173662 Tas1r1 (MGI:1927505)
chr1 6579990 6589279 1p36.3 1p36.31 165270 ZBTB48, HKR3 Zinc finger- and BTB domain-containing protein 48 ZBTB48 3104 ENSG00000204859 Zbtb48 (MGI:2140248)
chr1 6590723 6602897 1p36.31 1p36.31 616262 KLHL21, KIAA0469 Kelch-like 21 KLHL21 9903 ENSG00000162413 Klhl21 (MGI:1919288)
chr1 6624615 6635585 1p36.31 1p36.31 612532 THAP3 THAP domain-containing protein 3 THAP3 90326 ENSG00000041988 Thap3 (MGI:1917126)
chr1 6634167 6701905 1p36.31-p36.23 1p36.31 614827 DNAJC11 DNAJ/HSP40 homolog, subfamily C, member 11 DNAJC11 55735 ENSG00000007923 Dnajc11 (MGI:2443386)
chr1 6785323 7769705 1p36 1p36.31-p36.23 611501 CAMTA1, KIAA0833, CANPMR Calmodulin-binding transcription activator 1 CAMTA1 23261 ENSG00000171735 Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3), Autosomal dominant Camta1 (MGI:2140230)
chr1 7100000 27600000 1p36.2-p36.1 600975 GLC3B Glaucoma 3, primary infantile, B GLC3B 2728 Glaucoma 3, primary infantile, B, 600975 (2), Autosomal recessive
chr1 7100000 15900000 1p36.2 608543 SCZD12 Schizophrenia 12 619488 max lod at D1S1612 {Schizophrenia 12}, 181500 (2), Autosomal dominant
chr1 7771268 7781431 1p36 1p36.23 603657 VAMP3 Vesicle-associated membrane protein 3 VAMP3 9341 ENSG00000049245 Vamp3 (MGI:1321389)
chr1 7784284 7845180 1p36.33-p36.21 1p36.23 603427 PER3, FASPS3 Period, Drosophila, homolog of, 3 PER3 8863 ENSG00000049246 mutation identified in 1 FASPS3 family ?Advanced sleep phase syndrome, familial, 3, 616882 (3), Autosomal dominant Per3 (MGI:1277134)
chr1 7846344 7913614 1p36.23 1p36.23 604097 UTS2 Urotensin II UTS2 10911 ENSG00000049247 Uts2 (MGI:1346329)
chr1 7915870 7943164 1p36 1p36.23 602250 TNFRSF9, ILA, CD137 Tumor necrosis factor receptor superfamily, member 9 (interleukin-activated receptor; Ly63, mouse, homolog of) TNFRSF9 3604 ENSG00000049249 Tnfrsf9 (MGI:1101059)
chr1 7961653 7985281 1p36 1p36.23 602533 DJ1, PARK7 Oncogene DJ-1 PARK7 11315 ENSG00000116288 Parkinson disease 7, autosomal recessive early-onset, 606324 (3), Autosomal recessive Park7 (MGI:2135637)
chr1 8011718 8026332 1p36 1p36.23 608069 MIG6, RALT Mitogen-inducible gene 6 ERRFI1 54206 ENSG00000116285 Errfi1 (MGI:1921405)
chr1 8318084 8344166 1p36.2-p36.1 1p36.23 605763 SLC45A1, DNB5, IDDNPF Solute carrier family 45, member 1 SLC45A1 50651 ENSG00000162426 Intellectual developmental disorder with neuropsychiatric features, 617532 (3), Autosomal recessive Slc45a1 (MGI:2653235)
chr1 8352403 8826225 1p36.2-p36.1 1p36.23 605226 RERE, NEDBEH RE repeats-encoding gene RERE 473 ENSG00000142599 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3), Autosomal dominant Rere (MGI:2683486)
chr1 8861001 8878685 1pter-p36.13 1p36.23 172430 ENO1, PPH, MPB1 Enolase-1, alpha ENO1 2023 ENSG00000074800 Enolase deficiency (1) Eno1b,Eno1 (MGI:95393,MGI:3648653)
chr1 8945833 8975091 1p36.33-p36.22 1p36.23 114780 CA6 Carbonic anhydrase VI CA6 765 ENSG00000131686 Car6 (MGI:1333786)
chr1 8992533 9026383 1p36.2 1p36.23 610371 SLC2A7, GLUT7 Solute carrier family 2 (facilitated glucose transporter), member 7 SLC2A7 155184 ENSG00000197241 Slc2a7 (MGI:3650865)
chr1 9036945 9072226 1p36.2 1p36.23 138230 SLC2A5, GLUT5 Solute carrier family 2 (facilitated glucose transporter), member 5 SLC2A5 6518 ENSG00000142583 Slc2a5 (MGI:1928369)
chr1 9151667 9151776 1p36 1p36.22 611172 MIR34A, MIRN34A Micro RNA 34A MIR34A 407040
chr1 9234766 9271336 1p36 1p36.22 138090 H6PD, GDH, G6PDH, CORTRD1 Hexose-6-phosphate dehydrogenase H6PD 9563 ENSG00000049239 digenic triallelic mutations with HSD11B1 Cortisone reductase deficiency 1, 604931 (3), Autosomal recessive H6pd (MGI:2140356)
chr1 9292881 9369531 1p36.22 1p36.22 611657 SPSB, SSB1 SPRY domain- and SOCS box-containing 1 SPSB1 80176 ENSG00000171621 Spsb1 (MGI:1921896)
chr1 9539468 9582772 1p36.22 1p36.22 610816 SLC25A33 Solute carrier family 25 (mitochondrial carrier), member 33 SLC25A33 84275 ENSG00000171612 Slc25a33 (MGI:1917806)
chr1 9629888 9728924 1p36.2 1p36.22 602839 PIK3CD, APDS, IMD14 Phosphatidylinositol 3-kinase, catalytic, 110kD, delta PIK3CD 5293 ENSG00000171608 Immunodeficiency 14, 615513 (3), Autosomal dominant Pik3cd (MGI:1098211)
chr1 9729020 9824525 1p36 1p36.22 611321 CLSTN1, KIAA0911 Calsyntenin 1 CLSTN1 22883 ENSG00000171603 Clstn1 (MGI:1929895)
chr1 9848275 9910321 1p36.22 1p36.22 607758 CTNNBIP1, ICAT Catenin, beta-interacting protein 1 CTNNBIP1 56998 ENSG00000178585 Ctnnbip1 (MGI:1915756)
chr1 9922112 9943426 1p36.22 1p36.22 610458 LZIC Leucine zipper and CTNNBIP1 domains-containing protein LZIC 84328 ENSG00000162441 Lzic (MGI:1916401)
chr1 9942922 9996883 1p36.22 1p36.22 608700 NMNAT1, NMNAT, PNAT1, LCA9 Nicotinamide nucleotide adenylyltransferase 1 NMNAT1 64802 ENSG00000173614 Leber congenital amaurosis 9, 608553 (3), Autosomal recessive Nmnat1 (MGI:1913704)
chr1 10032957 10181238 1p36.3 1p36.22 613565 UBE4B, UFD2A, KIAA0684 Ubiquitination factor E4B UBE4B 10277 ENSG00000130939 Ube4b (MGI:1927086)
chr1 10210705 10381602 1p36.2 1p36.22 605995 KIF1B, CMT2A, CMT2A1, NBLST1 Kinesin family member 1B KIF1B 23095 ENSG00000054523 mutation identified in 1 CMT2A1 family ?Charcot-Marie-Tooth disease, type 2A1, 118210 (3), Autosomal dominant; {Neuroblastoma, susceptibility to, 1}, 256700 (3), Autosomal dominant, Isolated cases; Pheochromocytoma, 171300 (3), Autosomal dominant Kif1b (MGI:108426)
chr1 10398991 10420510 1p36.2-p36.13 1p36.22 172200 PGD 6-phosphogluconate dehydrogenase PGD 5226 ENSG00000142657 Pgd (MGI:97553)
chr1 10430101 10442814 1p36.22 1p36.22 609130 APITD1 Apoptosis-inducing, TAF9-like domain 1 CENPS 378708 ENSG00000175279 Cenps (MGI:1917178)
chr1 10449718 10452002 1p36 1p36.22 602784 CORT Cortistatin CORT 1325 ENSG00000241563 Cort (MGI:109538)
chr1 10460530 10472555 1p36.3-p36.2 1p36.22 601882 DFFA, DFF1 DNA fragmentation factor, 45kD, alpha subunit DFFA 1676 ENSG00000160049 Dffa (MGI:1196227)
chr1 10474945 10630757 1p36.2 1p36.22 601791 PEX14, PBD13A Peroxisome biogenesis factor 14 PEX14 5195 ENSG00000142655 Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3), Autosomal recessive Pex14 (MGI:1927868)
chr1 10636603 10796675 1p36.22 1p36.22 609895 CASZ1, SRG Castor zinc finger protein 1 CASZ1 54897 ENSG00000130940 Casz1 (MGI:1196251)
chr1 11012621 11030527 1p36.2 1p36.22 605078 TARDBP, TDP43, ALS10 TAR DNA-binding protein TARDBP 23435 ENSG00000120948 pseudogenes on 2, 6, 8, 13, 20 Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3), Autosomal dominant; Frontotemporal lobar degeneration, TARDBP-related, 612069 (3), Autosomal dominant Tardbp (MGI:2387629)
chr1 11026522 11047238 1p36.3-p36.2 1p36.22 605102 MASP2 Mannan-binding lectin serine protease 2 MASP2 10747 ENSG00000009724 MASP2 deficiency, 613791 (3), Autosomal recessive Masp2 (MGI:1330832)
chr1 11054591 11060052 1p36-p22 1p36.22 182891 SRM, SPS1 Spermidine synthase-1 SRM 6723 ENSG00000116649 ?pseudogene on 3p14-q21 Srm (MGI:102690)
chr1 11066612 11099909 1p36.22 1p36.22 605960 EXOSC10, PMSCL2 Exosome component 10 EXOSC10 5394 ENSG00000171824 Exosc10 (MGI:1355322)
chr1 11106530 11273496 1p36.2 1p36.22 601231 MTOR, FRAP1, SKS Mechanistic target of rapamycin MTOR 2475 ENSG00000198793 Focal cortical dysplasia, type II, somatic, 607341 (3); Smith-Kingsmore syndrome, 616638 (3), Autosomal dominant Mtor (MGI:1928394)
chr1 11273197 11299571 1p36.3 1p36.22 611632 UBIAD1, TERE1, SCCD UbiA prenyltransferase domain-containing protein 1 UBIAD1 29914 ENSG00000120942 Corneal dystrophy, Schnyder type, 121800 (3), Autosomal dominant Ubiad1 (MGI:1918957)
chr1 11479154 11537582 1p36.22 1p36.22 611251 PTCHD2, DISP3, KIAA1337 Patched domain-containing protein 2 DISP3 57540 ENSG00000204624 Disp3 (MGI:2444403)
chr1 11648360 11654830 1p36 1p36.22 607112 FBXO2, FBX2, FBG1, NFB42 F-box only protein 2 FBXO2 26232 ENSG00000116661 Fbxo2 (MGI:2446216)
chr1 11654374 11663326 1p36.21 1p36.22 609111 FBXO44, FBX44, FBX6A, FBG3 F-box only protein 44 FBXO44 93611 ENSG00000132879 Fbxo44 (MGI:1354744)
chr1 11664092 11674353 1p36.23 1p36.22 605647 FBXO6, FBX6, FBG2 F-box only protein 6 FBXO6 26270 ENSG00000116663 Fbxo6 (MGI:1354743)
chr1 11674479 11691620 1p36 1p36.22 604094 MAD2L2, MAD2B, FANCV Mitotic arrest-deficient 2, S. cerevisiae, homolog-like 2 MAD2L2 10459 ENSG00000116670 mutation identified in 1 FANCV patient; pseudogene on 14q21-q23 ?Fanconi anemia, complementation group V, 617243 (3), Autosomal recessive Mad2l2 (MGI:1919140)
chr1 11686634 11721765 1p36.22 1p36.22 612682 DRAXIN, C1orf187 Dorsal repulsive axon guidance protein DRAXIN 374946 ENSG00000162490 Draxin (MGI:1917683)
chr1 11785729 11806102 1p36.3 1p36.22 607093 MTHFR Methylenetetrahydrofolate reductase MTHFR 4524 ENSG00000177000 Homocystinuria due to MTHFR deficiency, 236250 (3), Autosomal recessive; {Neural tube defects, susceptibility to}, 601634 (3), Autosomal recessive; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant; {Thromboembolism, susceptibility to}, 188050 (3), Autosomal dominant; {Vascular disease, susceptibility to} (3) Mthfr (MGI:106639)
chr1 11806095 11843143 1p36 1p36.22 602726 CLCN6 Chloride channel 6 CLCN6 1185 ENSG00000011021 Clcn6 (MGI:1347049)
chr1 11845708 11847782 1p36.2 1p36.22 108780 NPPA, PND, ANP, ATFB6, ATRST2 Natriuretic peptide precursor A NPPA 4878 ENSG00000175206 Atrial fibrillation, familial, 6, 612201 (3), Autosomal dominant; Atrial standstill 2, 615745 (3), Autosomal recessive Nppa (MGI:97367)
chr1 11857463 11858934 1p36.2 1p36.22 600295 NPPB, BNP Natriuretic peptide precursor B NPPB 4879 ENSG00000120937
chr1 11934666 11975541 1p36.3-p36.2 1p36.22 153454 PLOD1, LH1, LLH, EDSKCL1 Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) PLOD1 5351 ENSG00000083444 Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3), Autosomal recessive Plod1 (MGI:99907)
chr1 11980180 12013514 1p36.2 1p36.22 608507 MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B Mitofusin 2 MFN2 9927 ENSG00000116688 Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive; Hereditary motor and sensory neuropathy VIA, 601152 (3), Autosomal dominant Mfn2 (MGI:2442230)
chr1 12063316 12144212 1p36 1p36.22 153243 TNFRSF8, CD30, D1S166E Tumor necrosis factor receptor superfamily, member 8 (CD30 antigen; Ki-1 antigen) TNFRSF8 943 ENSG00000120949 Tnfrsf8 (MGI:99908)
chr1 12166947 12209221 1p36.3-p36.2 1p36.22 191191 TNFRSF1B, TNFR2, TNFBR Tumor necrosis factor receptor superfamily, member 1B TNFRSF1B 7133 ENSG00000028137 Tnfrsf1b (MGI:1314883)
chr1 12500000 15900000 1p36.21 609918 GBD2 Gallbladder disease 2 GBD2 100048905 between D1S1597 and D1S47 Gallbladder disease 2, 609918 (2)
chr1 12567909 12617730 1p36.1 1p36.21 612830 DHRS3, RETSDR1 Short-chain dehydrogenase/reductase family, member 3 DHRS3 9249 ENSG00000162496 Dhrs3 (MGI:1315215)
chr1 13474976 13513746 1p36.21 1p36.21 615212 LRRC38 Leucine-rich repeat-containing protein 38 LRRC38 126755 ENSG00000162494 Lrrc38 (MGI:2442845)
chr1 13583756 13617956 1p36.21 1p36.21 608863 PDPN, TI1A, T1A2, GP36, OTS8, AGGRUS Podoplanin PDPN 10630 ENSG00000162493 Pdpn (MGI:103098)
chr1 13698873 13825078 1p36 1p36.21 601196 PRDM2, RIZ PR domain-containing protein 2 (retinoblastoma protein-binding zinc-finger protein RIZ) PRDM2 7799 ENSG00000116731 Prdm2 (MGI:107628)
chr1 15409894 15430342 1p36.21 1p36.21 616450 EFHD2, SWS1 EF-hand domain family, member D2 EFHD2 79180 ENSG00000142634 Efhd2 (MGI:106504)
chr1 15438441 15449246 1p36.21 1p36.21 601405 CTRC, CLCR Chymotrypsin CTRC 11330 ENSG00000162438 {Pancreatitis, chronic, susceptibility to}, 167800 (3), Autosomal dominant Ctrc (MGI:1923951)
chr1 15456727 15472090 1p36.2 1p36.21 609443 CELA2A, ELA2A Chymotrypsin-like elastase family, member 2A CELA2A 63036 ENSG00000142615 Cela2a (MGI:95316)
chr1 15476100 15491399 1p36.2 1p36.21 609444 CELA2B, ELA2B Chymotrypsin-like elastase family, member 2B CELA2B 51032 ENSG00000215704
chr1 15491400 15524911 1p36.3-p36.1 1p36.21 602234 CASP9, APAF3 Caspase 9, apoptosis-related cysteine protease CASP9 842 ENSG00000132906 Casp9 (MGI:1277950)
chr1 15571698 15585109 1p36.21 1p36.21 617887 AGMAT, AUH Agmatinase AGMAT 79814 ENSG00000116771 Agmat (MGI:1923236)
chr1 15659712 15662029 1p36.1 1p36.21 601966 RSC1A1, RS1 Regulatory solute carrier protein, family 1, member 1 RSC1A1 6248 ENSG00000215695 Rsc1a1 (MGI:3526447)
chr1 15681505 15734768 1p36.21 1p36.21 609613 PLEKHM2, SKIP, KIAA0842 Pleckstrin homology domain-containing protein, family M, member 2 PLEKHM2 23207 ENSG00000116786 Plekhm2 (MGI:1916832)
chr1 15735087 15741391 1p36.21 1p36.21 610817 SLC25A34 Solute carrier family 25, member 34 SLC25A34 284723 ENSG00000162461 Slc25a34 (MGI:2686215)
chr1 15756169 15786593 1p36.13 1p36.21 607747 FBLP1, MIGFILIN Filamin-binding LIM protein 1 FBLIM1 54751 ENSG00000162458 Fblim1 (MGI:1921452)
chr1 15847863 15940454 1p36.13 1p36.21-p36.13 613484 SPEN, MINT, SHARP, HIAA0929 SPEN, Drosophila, homolog of SPEN 23013 ENSG00000065526 Spen (MGI:1891706)
chr1 15900000 39600000 1p36.13-p34.3 609122 ANIB3 Aneurysm, intracranial berry, 3 ANIB3 497657 Aneurysm, intracranial berry, 3, 609122 (2), Autosomal dominant
chr1 15900000 39600000 1p36.13-p34.3 616055 EA8 Episodic ataxia, type 8 104326187 between rs2743201 and rs215791 Episodic ataxia, type 8, 616055 (2), Autosomal dominant
chr1 15900000 34300000 1p36.1-p35 601201 MEMO1 Methylation modifier for class I HLA 7795
chr1 15939932 15976131 1p36.2-p36.1 1p36.13 604084 ZBTB17, ZNF151, MIZ1 Zinc finger- and BTB domain-containing protein 17 ZBTB17 7709 ENSG00000116809 Zbtb17 (MGI:107410)
chr1 16014027 16019593 1p36.23-p34.3 1p36.13 610692 HSPB7, CVHSP Heat-shock 27kD protein 7 HSPB7 27129 ENSG00000173641 Hspb7 (MGI:1352494)
chr1 16021990 16034049 1p36 1p36.13 602024 CLCNKA Chloride channel, kidney, A CLCNKA 1187 ENSG00000186510 11kb from CLCNKB; simultaneous mutation in CLCNKA and CLCNKB Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive Clcnkb (MGI:1930643)
chr1 16043735 16057325 1p36 1p36.13 602023 CLCNKB Chloride channel, kidney, B CLCNKB 1188 ENSG00000184908 unequal crossingover with CLCNKA Bartter syndrome, type 3, 607364 (3), Autosomal recessive; Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive Clcnka (MGI:1329026)
chr1 16124336 16156108 1p36.1 1p36.13 176946 EPHA2, ECK, CTPP1, CTPA, ARCC2, CTRCT6 Ephrin receptor EphA2 EPHA2 1969 ENSG00000142627 Cataract 6, multiple types, 116600 (3), Autosomal dominant Epha2 (MGI:95278)
chr1 16197853 16212699 1p36.13 1p36.13 612496 ARHGEF19, WGEF RHO guanine nucleotide exchange factor 19 ARHGEF19 128272 ENSG00000142632 Arhgef19 (MGI:1925912)
chr1 16246839 16352490 1p36.23-p36.11 1p36.13 609109 FBXO42, FBX42, KIAA1332 F-box only protein 42 FBXO42 54455 ENSG00000037637 Fbxo42 (MGI:1924992)
chr1 16440671 16460089 1p36.13 1p36.13 611624 NECAP2 NECAP endocytosis-associated protein 2 NECAP2 55707 ENSG00000157191 Necap2 (MGI:1913397)
chr1 16545938 16546008 Chr.16 1p36.13 189911 TRNAG1, TRG1 tRNA glycine-1 7195
chr1 16562426 16613604 1p36.2 1p36.13 610501 NBPF1, KIAA1693 Neuroblastoma breakpoint family, member 1 NBPF1 55672 pseudogenes on 3 and 5
chr1 16740515 16740678 1p36.3 1p36.13 180680 RNU1A, RNU1 RNA, U1A small nuclear RNU1-4 6060 ?same as A12M2
chr1 16872582 16872653 1p36 1p36.13 180640 TRNAE1, TRNE, TRE tRNA glutamic acid TRE-TTC3-1 7193
chr1 16914081 16972978 1p36.11 1p36.13 615776 CROCC, ROOTLETIN, KIAA0445 Ciliary rootlet coiled-coil protein CROCC 9696 ENSG00000058453 Crocc (MGI:3529431)
chr1 16974501 16981585 1p36.1-p35 1p36.13 156790 MFAP2, MAGP, MAGP1 Microfibrillar-associated protein-2 MFAP2 4237 ENSG00000117122 Mfap2 (MGI:99559)
chr1 16985957 17011971 1p36 1p36.13 610513 ATP13A2, PARK9, KRPPD, SPG78 ATPase, type 13A2 ATP13A2 23400 ENSG00000159363 mutation identified in 1 family with CLN12 Kufor-Rakeb syndrome, 606693 (3), Autosomal recessive; Spastic paraplegia 78, autosomal recessive, 617225 (3), Autosomal recessive Atp13a2 (MGI:1922022)
chr1 17018721 17054169 1p36.1-p35 1p36.13 185470 SDHB, SDH2, SDHIP, PGL4, CWS2 Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) SDHB 6390 ENSG00000117118 1 of 2 polypeptides Cowden syndrome 2, 612359 (3), Autosomal dominant; Gastrointestinal stromal tumor, 606764 (3), Autosomal dominant, Isolated cases; Paraganglioma and gastric stromal sarcoma, 606864 (3); Paragangliomas 4, 115310 (3), Autosomal dominant; Pheochromocytoma, 171300 (3), Autosomal dominant Sdhb (MGI:1914930)
chr1 17066760 17119452 1p36.13 1p36.13 607935 PADI2 Peptidylarginine deiminase, type II PADI2 11240 ENSG00000117115 Padi2 (MGI:1338892)
chr1 17205124 17246005 1p36.13 1p36.13 607934 PADI1 Peptidylarginine deiminase, type I PADI1 29943 ENSG00000142623 Padi1 (MGI:1338893)
chr1 17249078 17284232 1p36.13 1p36.13 606755 PADI3, UHS1 Peptidylarginine deiminase, type III PADI3 51702 ENSG00000142619 Uncombable hair syndrome, 191480 (3), Autosomal recessive Padi3 (MGI:1338891)
chr1 17308194 17364003 1p36.13 1p36.13 605347 PADI4, PADI5, PAD Peptidylarginine deiminase, type IV PADI4 23569 ENSG00000159339 {Rheumatoid arthritis, susceptibility to}, 180300 (3) Padi4 (MGI:1338898)
chr1 17372195 17401698 1p36.13 1p36.13 610363 PADI6, PREMBL2 Peptidylarginine deiminase, type VI PADI6 353238 ENSG00000276747 Preimplantation embryonic lethality 2, 617234 (3), Autosomal recessive Padi6 (MGI:2655198)
chr1 17513441 17697874 1p36.13 1p36.13 612494 ARHGEF10L, GRINCHGEF, KIAA1626 RHO guanine nucleotide exchange factor 10-like protein ARHGEF10L 55160 ENSG00000074964 Arhgef10l (MGI:1920004)
chr1 18631005 18748865 1p36.2-p36.12 1p36.13 167410 PAX7, RMS2 Paired box homeotic gene-7 PAX7 5081 ENSG00000009709 fused with FKHR in rhabdomyosarcoma Rhabdomyosarcoma 2, alveolar, 268220 (3), Autosomal recessive Pax7 (MGI:97491)
chr1 18839598 18859660 1p36 1p36.13 606226 TAS1R2, T1R2 Taste receptor type 1, member 2 TAS1R2 80834 ENSG00000179002 Tas1r2 (MGI:1933546)
chr1 18871429 18902798 1p36 1p36.13 606811 ALDH4A1, ALDH4, P5CDH Aldehyde dehydrogenase 4 family, member A1 (delta-1-pyrroline 5-carboxylate dehydrogenase) ALDH4A1 8659 ENSG00000159423 Hyperprolinemia, type II, 239510 (3), Autosomal recessive Aldh4a1 (MGI:2443883)
chr1 19074505 19214331 1p36.13 1p36.13 609890 UBR4, ZUBR1, RBAF600, KIAA1307 Ubiquitin protein ligase E3 component n-recognin 4 UBR4 23352 ENSG00000127481 Ubr4 (MGI:1916366)
chr1 19215663 19251558 1p36.13 1p36.13 616846 EMC1, KIAA0090, CAVIPMR Endoplasmic reticulum membrane protein complex, subunit 1 EMC1 23065 ENSG00000127463 Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3), Autosomal recessive Emc1 (MGI:2443696)
chr1 19259319 19274167 1p36.13 1p36.13 608478 AKR7A4, AFAR3 Aldo-keto reductase family 7, member A4 AKR7L 246181
chr1 19274228 19289361 1p36.13 1p36.13 608477 AKR7A3, AFAR2 Aldo-keto reductase family 7, member A3 AKR7A3 22977 ENSG00000162482
chr1 19302707 19312145 1p36.13 1p36.13 603418 AKR7A2, AKR7, AFAR Aldo-keto reductase family 7, member A2 AKR7A2 8574 ENSG00000053371 pseudogenes on Xq25 and 1p12 Akr7a5 (MGI:107796)
chr1 19312245 19332610 1p36.13 1p36.13 614760 PQLC2 PQ loop repeat-containing protein 2 PQLC2 54896 ENSG00000040487 Pqlc2 (MGI:2384837)
chr1 19338772 19485640 1p36.1 1p36.13 601572 CAPZB, CAPPB Capping protein (actin filament) muscle Z-line, beta CAPZB 832 ENSG00000077549 Capzb (MGI:104652)
chr1 19596976 19629820 1p36.13 1p36.13 616574 MINOS1, MIO10, MIC10 Mitochondrial inner membrane organizing system protein 1 MINOS1 440574 ENSG00000173436 Minos1 (MGI:1913628)
chr1 19643228 19658455 1p36.13-p36.11 1p36.13 600613 D1S1733E, DAN Differential-screening-selected gene aberrant in neuroblastoma NBL1 4681 ENSG00000158747 aberrant in some neuroblastomas Nbl1 (MGI:104591)
chr1 19665286 19680965 1p36-p35 1p36.13 601109 HTR6 5-hydroxytryptamine (serotonin) receptor-6 HTR6 3362 ENSG00000158748 Htr6 (MGI:1196627)
chr1 19814028 19815277 1p36.13 1p36.13 617163 RNF186 Ring finger protein 186 RNF186 54546 ENSG00000178828 Rnf186 (MGI:1914075)
chr1 19881707 19912944 1p36.13 1p36.13 611758 OTUD3, KIAA0459 OTU domain-containing protein 3 OTUD3 23252 ENSG00000169914 Otud3 (MGI:1920412)
chr1 19975430 19980438 1p35 1p36.13 172411 PLA2G2A, PLA2B, PLA2L, MOM1 Phospholipase A2, group IIA, platelets, synovial fluid PLA2G2A 5320 ENSG00000188257 {Colorectal cancer}, 114500 (3), Autosomal dominant
chr1 20028348 20091900 1p36-p34 1p36.13 601192 PLA2G5, FRFB Phospholipase A2, group V PLA2G5 5322 ENSG00000127472 [Fleck retina, familial benign], 228980 (3), Autosomal recessive Pla2g5 (MGI:101899)
chr1 20100000 23600000 1p36.12 612957 B6QTL1 Vitamin B6 plasma level QTL 1 100302718 associated with rs4654748 {Vitamin B6 plasma level QTL 1}, 612957 (2)
chr1 20100000 34300000 1p36.12-p35.1 612627 BFIS4, BFIC4 Seizures, benign familial infantile, 4 100271922 between D1S2864 and D1S2830 Seizures, benign familial infantile, 4, 612627 (2)
chr1 20112649 20119565 1p36.12 1p36.12 605630 PLA2G2D, SPLASH Phospholipase A2, group IID PLA2G2D 26279 ENSG00000117215 Pla2g2d (MGI:1341796)
chr1 20139325 20150385 1p35 1p36.12 616793 PLA2G2F Phospholipase A2, group IIf PLA2G2F 64600 ENSG00000158786 Pla2g2f (MGI:1349661)
chr1 20183006 20196047 1p36.12 1p36.12 616783 UBXN10 UBX domain protein 10 UBXN10 127733 ENSG00000162543 Ubxn10 (MGI:2443123)
chr1 20482390 20486234 1p36.12 1p36.12 614986 CAMK2N1 Calcium/calmodulin-dependent protein kinase II inhibitor 1 CAMK2N1 55450 ENSG00000162545 Camk2n1 (MGI:1913509)
chr1 20499447 20508482 1p36.12 1p36.12 612037 MUL1, MULAN, C1orf166 Mitochondrial ubiquitin ligase activator of NFKB1 MUL1 79594 ENSG00000090432 Mul1 (MGI:1915600)
chr1 20588950 20618907 1p36.2-p35 1p36.12 123920 CDA Cytidine deaminase CDA 978 ENSG00000158825 Cda (MGI:1919519)
chr1 20633454 20651510 1p36 1p36.12 608309 PINK1, PARK6 PTEN-induced putative kinase 1 PINK1 65018 ENSG00000158828 Parkinson disease 6, early onset, 605909 (3), Autosomal recessive Pink1 (MGI:1916193)
chr1 20651766 20661543 1p36.1 1p36.12 602202 DDOST, OST, OST48, CDG1R Dolichyl-diphosphooligosaccharide-protein glycosyltransferase DDOST 1650 ENSG00000244038 mutation (cmpd het) identified in 1 CDG1R patient ?Congenital disorder of glycosylation, type Ir, 614507 (3), Autosomal recessive Ddost (MGI:1194508)
chr1 20664013 20718016 1p36.12 1p36.12 605037 KIF17, KIAA1405 Kinesin family member 17 KIF17 57576 ENSG00000117245 Kif17 (MGI:1098229)
chr1 20742676 20787807 1p36.12 1p36.12 616072 HP1BP3, HP1BP74 Heterochromatin protein 1-binding protein 3 HP1BP3 50809 ENSG00000127483 Hp1bp3 (MGI:109369)
chr1 20806291 21176887 1p36.12 1p36.12 603929 EIF4G3, EIF4GII Eukaryotic translation initiation factor 4-gamma, 3 EIF4G3 8672 ENSG00000075151 Eif4g3 (MGI:1923935)
chr1 21217246 21345540 1p36.1 1p36.12 600423 ECE1 Endothelin converting enzyme 1 ECE1 1889 ENSG00000117298 mutation identified in 1 HCAD patient ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3), Autosomal dominant; {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial Ece1 (MGI:1101357)
chr1 21436774 21484899 1p36.2 1p36.12 612992 NBPF3 Neuroblastoma breakpoint family, member 3 NBPF3 84224 ENSG00000142794
chr1 21508981 21578411 1p36.1-p34 1p36.12 171760 ALPL, HOPS, TNSALP Alkaline phosphatase, liver/bone/kidney ALPL 249 ENSG00000162551 Hypophosphatasia, adult, 146300 (3), Autosomal recessive, Autosomal dominant; Hypophosphatasia, childhood, 241510 (3), Autosomal recessive; Hypophosphatasia, infantile, 241500 (3), Autosomal recessive; Odontohypophosphatasia, 146300 (3), Autosomal recessive, Autosomal dominant Alpl (MGI:87983)
chr1 21596220 21669443 1p36.1-p35 1p36.12 600278 RAP1GA1 RAP1, GTPase activating protein 1 RAP1GAP 5909 ENSG00000076864 Rap1gap (MGI:109338)
chr1 21678578 21784145 1p36 1p36.12 617445 USP48, USP31 Ubiquitin-specific peptidase 48 USP48 84196 ENSG00000090686 Usp48 (MGI:2158502)
chr1 21822231 21937296 1p36.1 1p36.12 142461 HSPG2, PLC, SJS, SJA, SJS1 Heparan sulfate proteoglycan of basement membrane (perlecan) HSPG2 3339 ENSG00000142798 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3), Autosomal recessive; Schwartz-Jampel syndrome, type 1, 255800 (3), Autosomal recessive Hspg2 (MGI:96257)
chr1 22052626 22092942 1p36.1 1p36.12 116952 CDC42, TKS Cell division cycle 42 (GTP-binding protein, 25kD) CDC42 998 ENSG00000070831 Takenouchi-Kosaki syndrome, 616737 (3), X-linked dominant
chr1 22117304 22143980 1p35 1p36.12 603490 WNT4, SERKAL Wingless-type MMTV integration site family, member 4 WNT4 54361 ENSG00000162552 mutation identified in 1 SERKAL family Mullerian aplasia and hyperandrogenism, 158330 (3), Autosomal dominant; ?SERKAL syndrome, 611812 (3), Autosomal recessive Wnt4 (MGI:98957)
chr1 22428837 22531156 1p36 1p36.12 612106 ZBTB40, KIAA0478 Zinc finger- and BTB domain-containing protein 40 ZBTB40 9923 ENSG00000184677 Zbtb40 (MGI:2682254)
chr1 22563501 22603593 1p36.12 1p36.12 176945 EPHA8, EEK, HEK3 Ephrin receptor EphA8 (eph- and elk-related kinase) EPHA8 2046 ENSG00000070886 Epha8 (MGI:109378)
chr1 22636505 22639681 1p36.3-p34.1 1p36.12 120550 C1QA Complement component 1, q subcomponent, A chain C1QA 712 ENSG00000173372 C1q deficiency, 613652 (3), Autosomal recessive C1qa (MGI:88223)
chr1 22643616 22648110 1p36.3-p34.1 1p36.12 120575 C1QC, C1QG Complement component 1, q subcomponent, C chain C1QC 714 ENSG00000159189 C1q deficiency, 613652 (3), Autosomal recessive C1qc (MGI:88225)
chr1 22652980 22661636 1p36.3-p34.1 1p36.12 120570 C1QB Complement component 1, q subcomponent, B chain C1QB 713 ENSG00000173369 C1q deficiency, 613652 (3), Autosomal recessive C1qb (MGI:88224)
chr1 22710769 22921499 1p36.1-p35 1p36.12 600997 EPHB2, EPHT3, DRT, ERK, PCBC, CAPB eph tyrosine kinase 3 (ephrin receptor EphB2) EPHB2 2048 ENSG00000133216 {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3) Ephb2 (MGI:99611)
chr1 23019442 23083690 1p36.12 1p36.12 609132 KDM1A, LSD1, AOF2, BHC110, KIAA0601, CPRF Lysine-specific demethylase 1A KDM1A 23028 ENSG00000004487 Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (3), Autosomal dominant Kdm1a (MGI:1196256)
chr1 23084022 23177807 1p36 1p36.12 601422 LUZP1 Leucine zipper protein 1 LUZP1 7798 ENSG00000169641 Luzp1 (MGI:107629)
chr1 23191894 23194728 1p36.3-p34.3 1p36.12 182133 HTR1D 5-hydroxytryptamine (serotonin) receptor-1D HTR1D 3352 ENSG00000179546 Htr1d (MGI:96276)
chr1 23304687 23344363 1p36.11 1p36.12 607201 HNRPR, HNRNPR Heterogeneous nuclear ribonucleoprotein R HNRNPR 10236 ENSG00000125944 Hnrnpr (MGI:1891692)
chr1 23359447 23369863 1p36 1p36.12 611703 ZNF436, KIAA1710 Zinc finger protein 436 ZNF436 80818 ENSG00000125945 Zfp46 (MGI:99192)
chr1 23380908 23424778 1p36.12 1p36.12 604128 TCEA3 Transcription elongation factor A, 3 TCEA3 6920 ENSG00000204219 Tcea3 (MGI:1196908)
chr1 23428562 23484630 1p36.13 1p36.12 616594 ASAP3, UPLC1, CENTB6, DDEFL1, ACAP4 ARF GTPase-activating protein with SH3 domain, ankyrin repeat, and PH domain 3 ASAP3 55616 ENSG00000088280 Asap3 (MGI:2684986)
chr1 23505695 23531249 1p36 1p36.12 600426 E2F2 E2F transcription factor 2 E2F2 1870 ENSG00000007968 E2f2 (MGI:1096341)
chr1 23557929 23559793 1p36.13-p36.12 1p36.12 600277 ID3 Inhibitor of DNA binding 3, dominant negative, helix-loop-helix protein ID3 3399 ENSG00000117318 Id3 (MGI:96398)
chr1 23626952 23640567 1p36.1 1p36.11 607305 MDS2 Myelodysplasia syndrome gene 2 MDS2 259283 fused with ETV6 in myelodysplastic syndrome
chr1 23691778 23696834 1p36.1-p35 1p36.11 604175 RPL11, DBA7 Ribosomal protein L11 RPL11 6135 ENSG00000142676 Diamond-Blackfan anemia 7, 612562 (3), Autosomal dominant Rpl11 (MGI:1914275)
chr1 23743365 23762058 1p36.1 1p36.11 600786 TCEB3 Transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A) ELOA 6924 ENSG00000011007 Eloa (MGI:1351315)
chr1 23790788 23795538 1p36.11 1p36.11 616143 LYPLA2, APT2 Lysophospholipase II LYPLA2 11313 ENSG00000011009 Lypla2 (MGI:1347000)
chr1 23795598 23800803 1p36-p35 1p36.11 606953 GALE UDP galactose-4-epimerase GALE 2582 ENSG00000117308 Galactose epimerase deficiency, 230350 (3), Autosomal recessive Gale (MGI:1921496)
chr1 23801876 23825458 1pter-p33 1p36.11 613898 HMGCL 3-hydroxy-3-methylglutaryl-Coenzyme A lyase HMGCL 3155 ENSG00000117305 HMG-CoA lyase deficiency, 246450 (3), Autosomal recessive Hmgcl (MGI:96158)
chr1 23845076 23868368 1p34 1p36.11 612280 FUCA1 Fucosidase, alpha-L- 1, tissue FUCA1 2517 ENSG00000179163 8cM distal to RH; pseudogene on 2q31-q32 Fucosidosis, 230000 (3), Autosomal recessive Fuca1 (MGI:95593)
chr1 23873074 23913326 1p36 1p36.11 605051 CNR2, CB2, CX5 Cannabinoid receptor 2 CNR2 1269 ENSG00000188822 Cnr2 (MGI:104650)
chr1 23959163 23963461 1p36.11 1p36.11 611882 PNRC2 Proline-rich nuclear receptor coactivator 2 PNRC2 55629 ENSG00000189266 Pnrc2 (MGI:106512)
chr1 23964346 23980462 1p36.1 1p36.11 605221 SRSF10, FUSIP1, TASR, TASR1, TASR2 Splicine factor, serine/arginine-rich, 10 SRSF10 10772 ENSG00000188529 pseudogenes on chr. 9, 12, 20 Srsf10 (MGI:1333805)
chr1 24056040 24112174 1p36.11 1p36.11 616832 MYOM3 Myomesin 3 MYOM3 127294 ENSG00000142661 Myom3 (MGI:2685280)
chr1 24154155 24187294 1p36.11 1p36.11 607404 IFNLR1, IL28RA Interferon, lambda receptor 1 IFNLR1 163702 ENSG00000185436 Ifnlr1 (MGI:2429859)
chr1 24319321 24364481 1p36.11 1p36.11 608317 GRHL3, SOM, TFCP2L4, VWS2 Grainyhead-like 3 GRHL3 57822 ENSG00000158055 Van der Woude syndrome 2, 606713 (3), Autosomal dominant Grhl3 (MGI:2655333)
chr1 24356998 24415532 1p36.11 1p36.11 615826 STPG1, MAPO2, C1orf201 Sperm-tail PG-rich repeat-containing protein 1 STPG1 90529 ENSG00000001460 Stpg1 (MGI:1926056)
chr1 24502350 24537019 1p35.2-p33 1p36.11 605860 RCAN3, DSCR1L2, MCIP3 Regulator of calcineurin 3 RCAN3 11123 ENSG00000117602 Rcan3 (MGI:1858220)
chr1 24643102 24673280 1p36.11 1p36.11 605975 SRRM1, SRM160 Serine/arginine repetitive matrix 1 (ser/arg-related nuclear matrix protein, 160kD) SRRM1 10250 ENSG00000133226
chr1 24899510 24965157 1p36 1p36.11 600210 RUNX3, CBFA3, PEBP2A3, AML2 Runt-related transcription factor 3 RUNX3 864 ENSG00000020633 Runx3 (MGI:102672)
chr1 25222275 25232521 1p36.11 1p36.11 607090 SYF2, P29 SYF2 RNA splicing factor, S. cerevisiae, homolog of SYF2 25949 ENSG00000117614 Syf2 (MGI:1915842)
chr1 25272392 25330444 1p36.2-p34 1p36.11 111680 RHD Rhesus system D polypeptide RHD 6007 ENSG00000187010 [Rh-negative blood type] (3) Rhd (MGI:1202882)
chr1 25338297 25362360 1p36.11 1p36.11 605348 TMEM50A, SMP1 Transmembrane protein 50A TMEM50A 23585 ENSG00000183726 between RHD and RHCE Tmem50a (MGI:1919067)
chr1 25360658 25430192 1p36.2-p34 1p36.11 111700 RHCE Rhesus system C and E polypeptides RHCE 6006 ENSG00000188672 ?order: C-E-D [Blood group, Rhesus], 111690 (3); Rh-null disease, amorph type (3) Rhd (MGI:1202882)
chr1 25430857 25500208 1p36.11 1p36.11 610301 TMEM57, FLJ10747 Transmembrane protein 57 MACO1 55219 ENSG00000204178 Tmem57 (MGI:1913396)
chr1 25543584 25590399 1p36-p35 1p36.11 605747 LDLRAP1, ARH, FHCB2, FHCB1 Low density lipoprotein receptor adaptor protein 1 LDLRAP1 26119 ENSG00000157978 Hypercholesterolemia, familial, autosomal recessive, 603813 (3), Autosomal recessive Ldlrap1 (MGI:2140175)
chr1 25616819 25786206 1p36.13-p35.1 1p36.11 616772 MAN1C1 Mannosidase, alpha, class 1C, member 1 MAN1C1 57134 ENSG00000117643 Man1c1 (MGI:2446214)
chr1 25800175 25818221 1p36-p35 1p36.11 606210 SELENON, SEPN1, SELN, RSMD1, CFTD Selenoprotein N SELENON 57190 ENSG00000162430 Muscular dystrophy, rigid spine, 1, 602771 (3), Autosomal recessive; Myopathy, congenital, with fiber-type disproportion, 255310 (3), Autosomal recessive, Autosomal dominant Selenon (MGI:2151208)
chr1 25861483 25876706 1p36.11 1p36.11 607779 PAQR7, MPRA, PGLP Progestin and ADIPOQ receptor family, member 7 PAQR7 164091 ENSG00000182749 Paqr7 (MGI:1919154)
chr1 25884185 25906876 1p36.1-p35 1p36.11 151442 STMN1, LAP18, SMN Stathmin STMN1 3925 ENSG00000117632 Stmn1 (MGI:96739)
chr1 25959763 25998163 1p36.11 1p36.11 602344 PAFAH2 Platelet-activating factor acetylhydrolase 2 PAFAH2 5051 ENSG00000158006 Pafah2 (MGI:2140321)
chr1 26021774 26036463 1p36.1 1p36.11 601738 EXTL1 Exostosin-like 1 EXTL1 2134 ENSG00000158008 Extl1 (MGI:1888742)
chr1 26038021 26046137 1p36.11 1p36.11 609617 SLC30A2, ZNT2, TNZD Solute carrier family 30 (zinc transporter), member 2 SLC30A2 7780 ENSG00000158014 Zinc deficiency, transient neonatal, 608118 (3), Autosomal dominant Slc30a2 (MGI:106637)
chr1 26051303 26067633 1p36.11 1p36.11 606131 TRIM63, RNF28, SMRZ, MURF1 Tripartite motif containing 63 TRIM63 84676 ENSG00000158022 Trim63 (MGI:2447992)
chr1 26109130 26125547 1p35.3 1p36.11 610785 PDIK1L PDLIM1-interacting kinase 1-like PDIK1L 149420 ENSG00000175087 Pdik1l (MGI:2385213)
chr1 26169896 26170872 1p36.11 1p36.11 616698 ZNF593, ZT86 Zinc finger protein 593 ZNF593 51042 ENSG00000142684 Zfp593 (MGI:1915290)
chr1 26177489 26189883 1p36.11 1p36.11 603272 CNKSR1, CNK1 Connector enhancer of KSR 1 CNKSR1 10256 ENSG00000142675 Cnksr1 (MGI:2670958)
chr1 26189961 26202541 1p35.3 1p36.11 609121 CATSPER4 Cation channel, sperm-associated, 4 CATSPER4 378807 ENSG00000188782 Catsper4 (MGI:3043288)
chr1 26279721 26281521 1p36.11 1p36.11 615679 SH3BGRL3 SH3 domain-binding glutamic acid-rich protein-like protein 3 SH3BGRL3 83442 ENSG00000142669 Sh3bgrl3 (MGI:1920973)
chr1 26282281 26318264 1p36.11 1p36.11 609151 UBXN11, SOC UBX domain protein 11 UBXN11 91544 ENSG00000158062 Ubxn11 (MGI:1914836)
chr1 26317919 26320522 1p36.11 1p36.11 114280 CD52, CDW52 CD52 molecule CD52 1043 ENSG00000169442
chr1 26361631 26374535 1p36.11 1p36.11 616775 ZNF683, HOBIT Zinc finger protein 683 ZNF683 257101 ENSG00000176083
chr1 26410767 26429727 1p36.11 1p36.11 611043 LIN28, LIN28A Lin28, C. elegans, homolog of LIN28A 79727 ENSG00000131914 Lin28a (MGI:1890546)
chr1 26432281 26471305 1p36.11 1p36.11 608172 DHDDS, HDS, RP59, DEDSM Dehydrodolichyl diphosphate synthase DHDDS 79947 ENSG00000117682 mutation identified in 1 CDG1BB patient ?Congenital disorder of glycosylation, type 1bb, 613861 (3), Autosomal recessive; Developmental delay and seizures with or without movement abnormalities, 617836 (3), Autosomal dominant; Retinitis pigmentosa 59, 613861 (3), Autosomal recessive Dhdds (MGI:1914672)
chr1 26472410 26476641 1p36.1 1p36.11 163910 HMGN2, HMG17 High-mobility group nucleosomal binding protein 2 HMGN2 3151 ENSG00000198830
chr1 26529757 26575028 1p36.1 1p36.11 601684 RPS6KA1, RSK1 Ribosomal protein S6 kinase, 90kD, 1 RPS6KA1 6195 ENSG00000117676 Rps6ka1 (MGI:104558)
chr1 26696032 26782109 1p35.3 1p36.11 603024 ARID1A, C1orf4, B120, SMARCF1, MRD14, CSS2 AT rich interactive domain 1A, SWI-like ARID1A 8289 ENSG00000117713 Coffin-Siris syndrome 2, 614607 (3), Autosomal dominant Arid1a (MGI:1935147)
chr1 26787962 26798402 1p36.11 1p36.11 610274 PIGV, HPMRS1 Phosphatidylinositol glycan, class V PIGV 55650 ENSG00000060642 Hyperphosphatasia with mental retardation syndrome 1, 239300 (3), Autosomal recessive Pigv (MGI:2442480)
chr1 26863137 26864456 1p36.11 1p36.11 601290 SFN Stratifin SFN 2810 ENSG00000175793 Sfn (MGI:1891831)
chr1 26890487 26900470 1p36.11 1p36.11 617486 GPATCH3 G-patch domain-containing protein 3 GPATCH3 63906 ENSG00000198746 Gpatch3 (MGI:2442492)
chr1 26900568 26946870 1p36.11 1p36.11 610325 NUDC Nuclear distribution gene C, A. nigulans, homolog of NUDC 10726 ENSG00000090273 Nudc (MGI:106014)
chr1 26911483 26914109 1p36.1 1p36.11 604630 NR0B2, SHP Nuclear receptor subfamily 0, group B, member 2 NR0B2 8431 ENSG00000131910 Obesity, mild, early-onset, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Nr0b2 (MGI:1346344)
chr1 26949555 26960495 1p36 1p36.11 616758 KDF1, C1orf172, ECTD12 Keratinocyte differentiation factor 1 KDF1 126695 ENSG00000175707 mutation identified in 1 ECTD12 family ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, 617337 (3), Autosomal dominant Kdf1 (MGI:1916323)
chr1 26993662 27000890 1p36.11 1p36.11 616824 TRNP1 TMF1-regulated nuclear protein 1 TRNP1 388610 ENSG00000253368 Trnp1 (MGI:1916789)
chr1 27098808 27155129 1p36.1-p35 1p36.11 107310 SLC9A1, NHE1, APNH, LIKNS Solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive) SLC9A1 6548 ENSG00000090020 mutation identified in 1 LIKNS family ?Lichtenstein-Knorr syndrome, 616291 (3), Autosomal recessive Slc9a1 (MGI:102462)
chr1 27341991 27353931 1p36.11 1p36.11 608042 SYTL1, SLP1, JFC1 Synaptotagmin-like protein 1 SYTL1 84958 ENSG00000142765 Sytl1 (MGI:1933365)
chr1 27355178 27368036 1p36.11 1p36.11 604468 MAP3K6, MAPKKK6, ASK2 Mitogen-activated protein kinase kinase kinase 6 MAP3K6 9064 ENSG00000142733 Map3k6 (MGI:1855691)
chr1 27369109 27374851 1p36.11 1p36.11 604973 FCN3, HAKA1 Ficolin 3 FCN3 8547 ENSG00000142748 Immunodeficiency due to ficolin 3 deficiency, 613860 (3), Autosomal recessive
chr1 27392643 27395813 1p36.1-p34.3 1p36.11 600241 GPR3 G protein-coupled receptor-3 GPR3 2827 ENSG00000181773 Gpr3 (MGI:101908)
chr1 27404225 27490186 1p36.11-p34.3 1p36.11 605875 WASF2, WAVE2, SCAR2 WAS protein family member 2 WASF2 10163 ENSG00000158195 ?pseudogene on Xp11.21 Wasf2 (MGI:1098641)
chr1 27534244 27604177 1p36.11 1p36.1-p35.3 615790 AHDC1, MRD25 AT-hook DNA-binding motif-containing protein 1 AHDC1 27245 ENSG00000126705 Xia-Gibbs syndrome, 615829 (3), Autosomal dominant Ahdc1 (MGI:2444218)
chr1 27600000 34300000 1p35 132850 EBVS1 Epstein-Barr virus integration site EBVS1 1888
chr1 27612288 27635560 1p36.2-p36.1 1p35.3 164940 FGR, SRC2 Oncogene FGR FGR 2268 ENSG00000000938 same as SRC2 Fgr (MGI:95527)
chr1 27666060 27672228 1p35 1p35.3 147572 G1P3, IFI616 Interferon, alpha-inducible protein (clone IFI-6-16) IFI6 2537 ENSG00000126709
chr1 27830740 27851671 1p35 1p35.3 602636 PPP1R8, NIPP1, ARD1 Protein phosphatase-1, regulatory subunit-8 PPP1R8 5511 ENSG00000117751 Ppp1r8 (MGI:2140494)
chr1 27872530 27886684 1p35.3 1p35.3 617856 THEMIS2, C1orf38, ICB1 Thymocyte selection-associated protein family, member 2 THEMIS2 9473 ENSG00000130775 Themis2 (MGI:2446213)
chr1 27891523 27914796 1p35 1p35.3 179836 RPA2 Replication protein A2, 32kD RPA2 6118 ENSG00000117748 Rpa2 (MGI:1339939)
chr1 27934954 27959156 1p35.3 1p35.3 617737 SMPDL3B, ASML3B Sphingolyelin phosphodiesterase, acid-like, 3B SMPDL3B 27293 ENSG00000130768 Smpdl3b (MGI:1916022)
chr1 27970343 28088670 1p36 1p35.3 601655 EYA3 Eyes absent, Drosophila, homolog of, 3 EYA3 2140 ENSG00000158161 Eya3 (MGI:109339)
chr1 28147165 28193935 1p35-p34.3 1p35.3 173393 PTAFR Platelet-activating factor receptor PTAFR 5724 ENSG00000169403 Ptafr (MGI:106066)
chr1 28236090 28238104 1p35.3 1p35.3 614981 ATP1F1, IF1 ATPase inhibitory factor 1 ATP5IF1 93974 ENSG00000130770 Atpif1 (MGI:1196457)
chr1 28259451 28282490 1p35.3 1p35.3 607767 SEST2, HI95 Sestrin 2 SESN2 83667 ENSG00000130766 Sesn2 (MGI:2651874)
chr1 28329001 28335966 1p35.3 1p35.3 612384 MED18 Mediator complex subunit 18 MED18 54797 ENSG00000130772 Med18 (MGI:1914469)
chr1 28369553 28500368 1p35.3 1p35.3 608726 PHACTR4 Phosphatase and actin regulator 4 PHACTR4 65979 ENSG00000204138 Phactr4 (MGI:2140327)
chr1 28505942 28539195 1p36.1 1p35.3 179710 CHC1, RCC1 Regulator of chromosome condensation RCC1 1104 ENSG00000180198 Rcc1 (MGI:1913989)
chr1 28505942 28510891 1p36.1 1p35.3 603238 RNU17D, U17HG RNA, U17d small nucleolar SNHG3 8420
chr1 28507364 28507570 1p36.1 1p35.3 180645 RNU17A, RNE1 RNA, U17a small nucleolar SNORA73A 6080 in IVS1 of CHC1
chr1 28508557 28508761 1p36.1 1p35.3 603239 RNU17B RNA, U17b small nucleolar SNORA73B 26768
chr1 28603095 28648706 1p35.3 1p35.3 600773 TAF12 TAF12 RNA polymerase II, TATA box-binding protein-associated factor, 20kD TAF12 6883 ENSG00000120656 Taf12 (MGI:1913714)
chr1 28668727 28715602 1p35.3 1p35.3 604409 GMEB1 Glucocorticoid modulatory element-binding protein 1 GMEB1 10691 ENSG00000162419 Gmeb1 (MGI:2135604)
chr1 28736620 28769774 1p35 1p35.3 610640 YTHDF2 YTH N6-methyladenosine RNA-binding protein 2 YTHDF2 51441 ENSG00000198492 fused with AML1 in t(1;21) Ythdf2 (MGI:2444233)
chr1 28812141 28863695 1p36.1-p34.3 1p35.3 165195 OPRD1 Opioid receptor, delta-1 OPRD1 4985 ENSG00000116329 Oprd1 (MGI:97438)
chr1 28887090 29120045 1p36.2-p34 1p35.3 130500 EPB41, EL1 Erythrocyte surface protein band 4.1 EPB41 2035 ENSG00000159023 Elliptocytosis-1, 611804 (3) Epb41 (MGI:95401)
chr1 29147737 29182124 1p35.3 1p35.3 601940 SRSF4, SFRS4, SRp75 Splicing factor, serine/arginine-rich, 4 SRSF4 6429 ENSG00000116350 Srsf4 (MGI:1890577)
chr1 29192656 29230957 1p35.3 1p35.3 608205 MECR, NRBF1, DYTOABG Mitochondrial trans-2-enoyl-CoA reductase MECR 51102 ENSG00000116353 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3), Autosomal recessive Mecr (MGI:1349441)
chr1 29236515 29326812 1p35.3 1p35.3 602454 PTPRU, GLEPP1, PTPU2 Protein tyrosine phosphatase, receptor type, U PTPRU 10076 ENSG00000060656 Ptpru (MGI:1321151)
chr1 30711276 30723584 1p35 1p35.2 115437 MATN1, CRTM, CMP Matrilin 1, cartilage matrix protein MATN1 4146 ENSG00000162510 Matn1 (MGI:106591)
chr1 30732467 30757839 1p34 1p35.2 601476 LAPTM5 Lysosomal-associated multispanning membrane protein-5 LAPTM5 7805 ENSG00000162511 Laptm5 (MGI:108046)
chr1 30869465 30909734 1pter-p22.3 1p35.2 186357 SDC3, SYND3, SDCN Syndecan 3 SDC3 9672 ENSG00000162512 {Obesity, association with}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Sdc3 (MGI:1349163)
chr1 30931505 31065716 1p35.2 1p35.2 607204 PUM1, KIAA0099 Pumilio, Drosophila, homolog of, 1 PUM1 9698 ENSG00000134644 Pum1 (MGI:1931749)
chr1 31179269 31239886 1p35.2 1p35.2 612871 NKAIN1 Na+/K+ transporting ATPase-interacting 1 NKAIN1 79570 ENSG00000084628 Nkain1 (MGI:1914399)
chr1 31259567 31296796 1p35.2 1p35.2 607797 SNRNP40, SPF38, PRPF8BP Small nuclear ribonucleoprotein 40kDa (U5) SNRNP40 9410 ENSG00000060688 Snrnp40 (MGI:1913835)
chr1 31359594 31373617 1p33-p31 1p35.2 134651 FABP3 Fatty acid-binding protein 3, muscle FABP3 2170 ENSG00000121769 Fabp3 (MGI:95476)
chr1 31409564 31434679 1p35.2 1p35.2 614549 SERINC2 Serine incorporator 2 SERINC2 347735 ENSG00000168528 Serinc2 (MGI:1919132)
chr1 31576383 31587685 1p35.2 1p35.2 616064 TINAGL1, TINAGRP Tubulointerstitial nephritis antigen-like protein 1 TINAGL1 64129 ENSG00000142910 Tinagl1 (MGI:2137617)
chr1 31617699 31632517 1p35.2 1p35.2 602392 HCRTR1, OX1R Hypocretin receptor 1 HCRTR1 3061 ENSG00000121764 Hcrtr1 (MGI:2385650)
chr1 31629861 31645236 1p34 1p35.2 610033 PEF1 Peflin PEF1 553115 ENSG00000162517 Pef1 (MGI:1915148)
chr1 31652246 31704166 1p34 1p35.2 120326 COL16A1 Collagen XVI, alpha-1 polypeptide COL16A1 1307 ENSG00000084636 Col16a1 (MGI:1095396)
chr1 31727104 31764062 1p35 1p35.2 602683 ADGRB2, BAI2 Adhesion G protein-coupled receptor B2 ADGRB2 576 ENSG00000121753 Adgrb2 (MGI:2451244)
chr1 31906420 31938386 1p35 1p35.2 601584 PTP4A2, PTP4A, PRL2, HH13 Protein tyrosine phosphatase, type 4A, 2 PTP4A2 8073 ENSG00000184007 Ptp4a2 (MGI:1277117)
chr1 32013693 32060858 1p32 1p35.2 602489 KHDRBS1, SAM68 KH domain-containing, RNA-binding, signal transduction-associated protein 1 KHDRBS1 10657 ENSG00000121774 Khdrbs1 (MGI:893579)
chr1 32108042 32176567 1p35.1 1p35.2 610563 KPNA6 Karyopherin alpha-6 KPNA6 23633 ENSG00000025800 Kpna6 (MGI:1100836)
chr1 32200385 32205389 1p35.1 1p35.2 610162 CCDC28B, MGC1203 Coiled-coil domain-containing protein 28B CCDC28B 79140 ENSG00000160050 {Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Autosomal recessive, Digenic recessive Ccdc28b (MGI:1913514)
chr1 32221583 32231603 1p34.1 1p35.2 603911 EIF3I, EIF3S2, TRIP1 Eukaryotic translation initiation factor 3, subunit I EIF3I 8668 ENSG00000084623 pseudogene on 7q32 Eif3i (MGI:1860763)
chr1 32251238 32286166 1p35-p34.3 1p35.2 153390 LCK, IMD22 Lymphocyte-specific protein tyrosine kinase LCK 3932 ENSG00000182866 LCK/TCRB fusion in leukemia; mutation identified in 1 IMD22 patient ?Immunodeficiency 22, 615758 (3), Autosomal recessive Lck (MGI:96756)
chr1 32292102 32333627 1p34.1 1p35.2-p35.1 601241 HDAC1, RPD3L1 Histone deacetylase-1 HDAC1 3065 ENSG00000116478 Hdac1 (MGI:108086)
chr1 32333828 32336238 1p34 1p35.1 602940 MARCKSL1, MLP, MRP MARCKS-like protein 1 MARCKSL1 65108 ENSG00000175130 Marcksl1 (MGI:97143)
chr1 32352719 32365264 1p35-p34 1p35.1 607660 TSSK3, STK22C, STK22D Testis-specific serine/threonine kinase 3 TSSK3 81629 ENSG00000162526 Tssk3 (MGI:1929914)
chr1 32364632 32394460 1p35.1 1p35.1 617518 BSDC1 BSD domain-containing protein 1 BSDC1 55108 ENSG00000160058 Bsdc1 (MGI:1913466)
chr1 32620817 32651007 1p35.1 1p35.1 615891 ZBTB8OS, ARCH Zinc finger- and BTB domain-containing protein 8, opposite strand ZBTB8OS 339487 ENSG00000176261 Zbtb8os (MGI:1914356)
chr1 32679905 32703595 1p34.3-p34.1 1p35.1 611750 SYNC1 Syncoilin 1 SYNC 81493 Sync (MGI:1916078)
chr1 32775237 32818031 1p35 1p35.1 603623 YARS, CMTDIC, TYRRS, YTS, YRS Tyrosyl-tRNA synthetase YARS 8565 ENSG00000134684 Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3), Autosomal dominant Yars (MGI:2147627)
chr1 32816766 32858878 1p34.3 1p35.1 611889 S100PBP, S100PBPR S100P-binding protein S100PBP 64766 ENSG00000116497 S100pbp (MGI:1921898)
chr1 32862267 32872491 1p35.1 1p35.1 611906 FNDC5, FRCP2 Fibronectin type III domain-containing protein 5 FNDC5 252995 ENSG00000160097 Fndc5 (MGI:1917614)
chr1 32885964 32894645 1p35-p34.2 1p35.1 142622 HPCA, DYT2 Hippocalcin, 23kD, Ca2+-binding protein HPCA 3208 ENSG00000121905 Dystonia 2, torsion, autosomal recessive, 224500 (3), Autosomal recessive Hpca (MGI:1336200)
chr1 32932497 32965265 1p35.1 1p35.1 610872 IBRDC3, NKLAM IBR domain-containing protein 3 RNF19B 127544 ENSG00000116514 Rnf19b (MGI:1922484)
chr1 33007939 33036910 1p34 1p35.1 103020 AK2 Adenylate kinase-2, mitochondrial AK2 204 ENSG00000004455 Reticular dysgenesis, 267500 (3), Autosomal recessive Ak2 (MGI:87978)
chr1 33081109 33162287 1p34.3-p33 1p35.1 608353 AZIN2, ODC1L, KIAA1945 Antizyme inhibitor 2 AZIN2 113451 ENSG00000142920 Azin2 (MGI:2442093)
chr1 33145398 33184773 1p35.1 1p35.1 616755 TRIM62, DEAR1 Tripartite motif-containing protein 62 TRIM62 55223 ENSG00000116525 Trim62 (MGI:1914775)
chr1 33472590 33504252 1p35.1 1p35.1 611315 ZSCAN20, ZNF31, KOX29 Zinc finger- and SCAN domain-containing protein 20 ZSCAN20 7579 ENSG00000121903 Zscan20 (MGI:2679268)
chr1 33513998 34165841 1p35.3 1p35.1 608398 CSMD2, KIAA1884 Cub and Sushi multiple domains 2 CSMD2 114784 ENSG00000121904 Csmd2 (MGI:2386401)
chr1 33860474 33864790 1p35.1 1p35.1 617285 HMGB4 High mobility group box 4 HMGB4 127540 ENSG00000176256 Hmgb4 (MGI:1916567)
chr1 34300000 39600000 1p34.3 609919 GBD3 Gallbladder disease 3 GBD3 100048906 new D2S255 Gallbladder disease 3, 609919 (2)
chr1 34300000 60800000 1p34-p32 613545 MACST Macrostomia 100529231 max lod at D1S2797 Macrostomia, 613545 (2)
chr1 34754776 34758512 1p35.1 1p34.3 604493 GJB5, CX31.1 Gap junction protein, beta-5 GJB5 2709 ENSG00000189280 Gjb5 (MGI:95723)
chr1 34759740 34763723 1p35.1 1p34.3 605425 GJB4, CX30.3, EKVP2 Gap junction protein, beta-4 GJB4 127534 ENSG00000189433 Erythrokeratodermia variabilis et progressiva 2, 617524 (3), Autosomal dominant Gjb4 (MGI:95722)
chr1 34781188 34786365 1p35.1 1p34.3 603324 GJB3, CX31, DFNA2B, EKVP1 Gap junction protein, beta-3 GJB3 2707 ENSG00000188910 same YAC as GJA4 Deafness, autosomal dominant 2B, 612644 (3), Autosomal dominant; Deafness, autosomal dominant, with peripheral neuropathy (3); Deafness, autosomal recessive (3); Deafness, digenic, GJB2/GJB3, 220290 (3), Autosomal recessive; Erythrokeratodermia variabilis et progressiva 1, 133200 (3), Autosomal recessive, Autosomal dominant Gjb3 (MGI:95721)
chr1 34792957 34795746 1p35.1 1p34.3 121012 GJA4, CX37 Gap junction protein, alpha-4, 37kD (connexin 37) GJA4 2701 ENSG00000187513 Gja4 (MGI:95715)
chr1 34986164 35031967 14q12 1p34.3 613567 ZMYM6, ZNF258 Zinc finger, MYM-type 6 ZMYM6 9204 ENSG00000163867 Zmym6 (MGI:106505)
chr1 35176377 35193173 1p34 1p34.3 605199 SFPQ, PSF Splicing factor, proline- and glutamine-rich SFPQ 6421 ENSG00000116560 fusion gene with TFE3 in RCC Sfpq (MGI:1918764)
chr1 35268693 35421943 1p34.3 1p34.3 613568 ZMYM4, ZNF262, KIAA0425 Zinc finger, MYM-type 4 ZMYM4 9202 ENSG00000146463 Zmym4 (MGI:1915035)
chr1 35433489 35557602 1p34.3 1p34.3 613535 KIAA0319L, KIAA1837 KIAA0319-like KIAA0319L 79932 ENSG00000142687 AU040320 (MGI:2140475)
chr1 35557791 35566778 1p34.3 1p34.3 608458 NCDN, KIAA0607 Neurochondrin NCDN 23154 ENSG00000020129 Ncdn (MGI:1347351)
chr1 35568738 35595590 1p34.3 1p34.3 614428 TFAP2E Transcription factor AP2-epsilon TFAP2E 339488 ENSG00000116819 Tfap2e (MGI:2679630)
chr1 35599540 35641843 1p34.2 1p34.3 602175 PSMB2 Proteasome subunit, beta type, 2 PSMB2 5690 ENSG00000126067 Psmb2 (MGI:1347045)
chr1 35720217 35769984 1p34.3-p34.1 1p34.3 605434 CLASPIN Claspin, Xenopus, homolog of CLSPN 63967 ENSG00000092853 Clspn (MGI:2445153)
chr1 35807623 35857889 1p35-p34 1p34.3 607356 EIF2C4, AGO4, KIAA1567 Eukaryotic translation initiation factor 2C, 4 (argonaute 4) AGO4 192670 ENSG00000134698 Ago4 (MGI:1924100)
chr1 35869807 35929609 1p35-p34 1p34.3 606228 AGO1, EIF2C1, GERP95, EIF2C Argonaute 1, RISC catalytic component AGO1 26523 ENSG00000092847 Ago1 (MGI:2446630)
chr1 35925682 36056469 1p35-p34 1p34.3 607355 EIF2C3, AGO3 Eukaryotic translation initiation factor 2C, subunit 3 (argonaute 3) AGO3 192669 ENSG00000126070 Ago3 (MGI:2446634)
chr1 36088851 36093931 1p35.3-p34.1 1p34.3 610624 ADPRHL2, ARH3 ADP-ribosylhydrolase-like 2 ADPRHL2 54936 ENSG00000116863 Adprhl2 (MGI:2140364)
chr1 36095235 36126206 1p34.3-p32.3 1p34.3 120252 COL8A2, FECD1, PPCD2 Collagen VIII, alpha-2 polypeptide COL8A2 1296 ENSG00000171812 Corneal dystrophy, Fuchs endothelial, 1, 136800 (3), Autosomal dominant; Corneal dystrophy, posterior polymorphous 2, 609140 (3), Autosomal dominant Col8a2 (MGI:88464)
chr1 36136568 36156052 1p34.3 1p34.3 610955 TRAPPC3, BET3 Trafficking protein particle complex, subunit 3 TRAPPC3 27095 ENSG00000054116 Trappc3 (MGI:1351486)
chr1 36224411 36305356 1p34.3 1p34.3 603809 THRAP3, TRAP150 Thyroid hormone receptor-associated protein 3 THRAP3 9967 ENSG00000054118 Thrap3 (MGI:2442637)
chr1 36339618 36385926 1p34.3 1p34.3 609437 STK40, SHIK Serine/threonine protein kinase 40 STK40 83931 ENSG00000196182 Stk40 (MGI:1921428)
chr1 36393419 36397958 1p34.3 1p34.3 617909 LSM10 Lsm10, U7 small nuclear RNA-associated protein LSM10 84967 ENSG00000181817 Lsm10 (MGI:2151045)
chr1 36417905 36450484 1p34.2 1p34.3 608854 NOR1 Oxidored-nitro domain-containing protein 1 OSCP1 127700 ENSG00000116885 Oscp1 (MGI:1916308)
chr1 36455760 36464438 1p35-p34.1 1p34.3 611979 MRPS15 Mitochondrial ribosomal protein S15 MRPS15 64960 ENSG00000116898 Mrps15 (MGI:1913657)
chr1 36466042 36483313 1p35-p34.3 1p34.3 138971 CSF3R, GCSFR, SCN7 Colony-stimulating factor-3 receptor (granulocyte) CSF3R 1441 ENSG00000119535 Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3), Autosomal recessive Csf3r (MGI:1339755)
chr1 36795526 37034242 1p34-p33 1p34.3 138243 GRIK3, GLUR7 Glutamate receptor, ionotropic, kainate 3 GRIK3 2899 ENSG00000163873 Grik3 (MGI:95816)
chr1 37474517 37484376 1p35.3-p33 1p34.3 610562 ZC3H12A, MCPIP, MCPIP1 Zinc finger CCCH domain-containing protein 12A ZC3H12A 80149 ENSG00000163874 Zc3h12a (MGI:2385891)
chr1 37489959 37514818 1p35.3-p33 1p34.3 611001 MEAF6, C1orf149, EAF6 MYST/ESA1-associated factor 6 MEAF6 64769 ENSG00000163875 Meaf6 (MGI:1917338)
chr1 37534448 37554343 1p34.3 1p34.3 608241 SNIP1, PMRED SMAD nuclear interacting protein 1 SNIP1 79753 ENSG00000163877 Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3), Autosomal recessive Snip1 (MGI:2156003)
chr1 37556918 37566856 1p35.1 1p34.3 602135 DNALI1, P28 Dynein, axonemal, light intermediate polypeptide 1 DNALI1 7802 ENSG00000163879 Dnali1 (MGI:1922813)
chr1 37566811 37595984 1p34.3 1p34.3 609365 GNL2, NGP1 Guanine nucleotide-binding protein-like 2 GNL2 29889 ENSG00000134697 Gnl2 (MGI:2385207)
chr1 37611349 37634922 1p34.3 1p34.3 609595 RSPO1, FLJ40906 Roof plate-specific spondin, mouse, homolog of, 1 RSPO1 284654 ENSG00000169218 Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3), Autosomal recessive; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3), Autosomal recessive Rspo1 (MGI:2183426)
chr1 37681569 37692335 1p34.3 1p34.3 614799 C1orf109 Chromosome 1 open reading frame 109 C1orf109 54955 ENSG00000116922 9930104L06Rik (MGI:3041172)
chr1 37692400 37709718 1p34.3 1p34.3 609977 CDCA8 Cell division cycle-associated protein 8 CDCA8 55143 ENSG00000134690 possible pseudogene on chr.7 Cdca8 (MGI:1196274)
chr1 37713887 37765151 1p34.3 1p34.3 611123 EPHA10 Ephrin receptor EphA10 EPHA10 284656 ENSG00000183317 Epha10 (MGI:3586824)
chr1 37802941 37808192 1p34.2 1p34.3 612276 YRDC, IRIP YRDC domain-containing protein YRDC 79693 ENSG00000196449 Yrdc (MGI:2387201)
chr1 37809566 37859619 1p33 1p34.3 600172 MTF1 Metal-regulatory transcription factor 1 MTF1 4520 ENSG00000188786 Mtf1 (MGI:101786)
chr1 37860696 37947094 1p34 1p34.3 147264 INPP5B Inositol polyphosphate-5-phosphatase, 75kD INPP5B 3633 ENSG00000204084 Inpp5b (MGI:103257)
chr1 37956974 37990109 1p34.3 1p34.3 605596 SF3A3, SF3A60, SAP61, PRP9 Splicing factor 3A, subunit 3 SF3A3 10946 ENSG00000183431 Sf3a3 (MGI:1922312)
chr1 37996764 38005690 1p34 1p34.3 602790 FHL3, SLIM2 Four-and-a-half LIM domains-3 FHL3 2275 ENSG00000183386 Fhl3 (MGI:1341092)
chr1 38012711 38024824 1p34.3 1p34.3 609440 UTP11L, CGI94 UTP11-like protein UTP11 51118 ENSG00000183520 Utp11 (MGI:1914455)
chr1 38043850 38046777 1p34.1 1p34.3 602479 POU3F1 POU domain, class 3, transcription factor-1 POU3F1 5453 ENSG00000185668
chr1 38838196 38859822 1p34 1p34.3 608267 RRAGC, RAGC RAS-related GTP-binding protein C RRAGC 64121 ENSG00000116954 Rragc (MGI:1858751)
chr1 38862489 38873377 1p33-p32.2 1p34.3 606535 MYCBP MYC-binding protein MYCBP 26292 ENSG00000214114 Mycbp (MGI:1891750)
chr1 38874066 38881625 1p34.3 1p34.3 611923 GJA9, CX59 Gap junction protein, alpha-9 GJA9 81025 ENSG00000131233
chr1 38991243 39006064 1p34.3 1p34.3 615164 AKIRIN1 Akirin 1 AKIRIN1 79647 ENSG00000174574 Akirin1 (MGI:1915300)
chr1 39026294 39034635 1p34.2-p33 1p34.3 603847 NDUFS5 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kD NDUFS5 4725 ENSG00000168653
chr1 39084166 39487137 1p32-p31 1p34.3 608271 MACF1, ACF7, KIAA1251 Microtubule-actin cross-linking factor 1 MACF1 23499 ENSG00000127603
chr1 39560812 39576848 1p36-p32 1p34.3 603407 PABPC4, PABP4, IPABP, APP1 Polyadenylate-binding protein, cytoplasmic, 4 PABPC4 8761 ENSG00000090621 Pabpc4 (MGI:2385206)
chr1 39623430 39639675 1p34.3 1p34.2 609034 HEYL Hariy/enhancer of split-related with YRPW motif-like protein HEYL 26508 Heyl (MGI:1860511)
chr1 39659120 39672037 1p34.3-p33 1p34.2 610525 NT5C1A, CN1A, CNI, CN1 5'-nucleotidase, cytosolic, IA NT5C1A 84618 ENSG00000116981 Nt5c1a (MGI:2155700)
chr1 39738844 39765697 1p34.2 1p34.2 602435 PPIE, CYP33 Peptidyl-prolyl isomerase E PPIE 10450 ENSG00000084072 Ppie (MGI:1917118)
chr1 39757181 39788860 1p34.2 1p34.2 602284 BMP8B, OP2 Bone morphogenetic protein-8b (osteogenic protein 2) BMP8B 656 ENSG00000116985
chr1 39769524 39771347 1p34.2 1p34.2 610289 OXCT2, FLJ0030 3-oxoacid CoA transferase 2 OXCT2 64064 ENSG00000198754
chr1 39841030 39883510 1p34.2 1p34.2 617840 TRIT1, IPT, COXPD35 tRNA isopentenyltransferase 1 TRIT1 54802 ENSG00000043514 Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive Trit1 (MGI:1914216)
chr1 39895423 39902014 1p34.3 1p34.2 164850 MYCL, LMYC Oncogene MYC, lung carcinoma-derived MYCL 4610 ENSG00000116990 Mycl (MGI:96799)
chr1 39955111 39969967 1p34.2 1p34.2 614397 MFSD2A, MCPH15 Major facilitator superfamily domain-containing protein 2A MFSD2A 84879 ENSG00000168389 Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive Mfsd2a (MGI:1923824)
chr1 40040064 40072648 1p34.2 1p34.2 617801 CAP1 Cyclase-associated actin cytoskeleton regulatory protein 1 CAP1 10487 ENSG00000131236 Cap1 (MGI:88262)
chr1 40072705 40097469 1p32 1p34.2 600722 PPT1, CLN1 Palmitoyl-protein thioesterase 1 PPT1 5538 ENSG00000131238 Ceroid lipofuscinosis, neuronal, 1, 256730 (3), Autosomal recessive Ppt1 (MGI:1298204)
chr1 40161368 40240920 1p32 1p34.2 180610 RLF Rearranged L-myc fusion sequence RLF 6018 ENSG00000117000 <800kb from MYCL1 Rlf (MGI:1924705)
chr1 40258049 40294183 1p34 1p34.2 606480 ZMPSTE24, FACE1, STE24, MADB Zinc metalloproteinase STE24 ZMPSTE24 10269 ENSG00000084073 Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3), Autosomal recessive; Restrictive dermopathy, lethal, 275210 (3), Autosomal recessive Zmpste24 (MGI:1890508)
chr1 40300486 40317652 1p34.2 1p34.2 120260 COL9A2, EDM2, STL5 Collagen IX, alpha-2 polypeptide COL9A2 1298 ENSG00000049089 mutation identified in1 STL5 family Epiphyseal dysplasia, multiple, 2, 600204 (3), Autosomal dominant; ?Stickler syndrome, type V, 614284 (3), Autosomal recessive Col9a2 (MGI:88466)
chr1 40373671 40423325 1p34.2 1p34.2 616916 SMAP2, SMAP1L Small ADP-ribosylation factor GTPase-activating protein 2 SMAP2 64744 ENSG00000084070 Smap2 (MGI:1917030)
chr1 40620679 40692103 1p34.1 1p34.2 611600 RIMS3, NIM3, KIAA0137 Protein regulating synaptic membrane exocytosis 3 RIMS3 9783 ENSG00000117016 Rims3 (MGI:2443331)
chr1 40691569 40771602 1p32 1p34.2 605344 NFYC, CBFC Nuclear transcription factor Y, gamma NFYC 4802 ENSG00000066136 Nfyc (MGI:107901)
chr1 40757283 40757371 1p34.2 1p34.2 615151 MIR30C1 Micro RNA 30C-1 MIR30C1 407031
chr1 40784011 40840456 1p34 1p34.2 603537 KCNQ4, DFNA2A Potassium voltage-gated channel, KQT-like subfamily, member 4 KCNQ4 9132 ENSG00000117013 Deafness, autosomal dominant 2A, 600101 (3), Autosomal dominant Kcnq4 (MGI:1926803)
chr1 40861055 40862345 1p35-p34 1p34.2 606815 CITED4 CBP/P300-interacting transactivator, with glu/asp-rich carboxy terminal domain, 4 CITED4 163732 ENSG00000179862 Cited4 (MGI:1861694)
chr1 40979298 41012564 1p34.1 1p34.2 123860 CTPS1, CTPS, IMD24 Cytidine 5'-triphosphate synthetase 1 CTPS1 1503 ENSG00000171793 Immunodeficiency 24, 615897 (3), Autosomal recessive Ctps (MGI:1858304)
chr1 41027198 41242153 1p34 1p34.2 616396 SCMH1 Sex comb on midleg, Drosophila, homolog of, 1 SCMH1 22955 ENSG00000010803 Scmh1 (MGI:1352762)
chr1 41361930 41383590 1p34.1 1p34.2 611457 FOXO6 Forkhead box O6 FOXO6 100132074 ENSG00000204060 Foxo6 (MGI:2676586)
chr1 41478774 41484698 1p34 1p34.2 131241 EDN2 Endothelin-2 EDN2 1907 ENSG00000127129 vasoactive intestinal contractor (VIC) = mouse and rat equivalent Edn2 (MGI:95284)
chr1 41506364 42035924 1p34 1p34.2 606649 HIVEP3, KRC Human immunodeficiency virus type 1 enhancer-binding protein 3 HIVEP3 59269 ENSG00000127124 Hivep3 (MGI:106589)
chr1 42153420 42155823 1p34-p33 1p34.2 601271 GUCA2B, UGN Guanylate cyclase activator 2B (uroguanylin) GUCA2B 2981 ENSG00000044012 Guca2b (MGI:1270851)
chr1 42162690 42164723 1p35-p34 1p34.2 139392 GUCA2A, GUCA2 Guanylate cyclase activator 2A (guanylin 2, intestinal, heat-stable) GUCA2A 2980 ENSG00000197273 Guca2a (MGI:102738)
chr1 42176538 42336804 1p34.2 1p34.2 616035 FOXJ3, KIAA1041 Forkhead box J3 FOXJ3 22887 ENSG00000198815 Foxj3 (MGI:2443432)
chr1 42456340 42473380 1p13.1-p12 1p34.2 609853 PPCS Phosphopantothenoylcysteine synthetase PPCS 79717 ENSG00000127125 Ppcs (MGI:1915237)
chr1 42657769 42681653 1p34.1 1p34.2 606095 PPIH Peptidyl-prolyl isomerase H PPIH 10465 ENSG00000171960 Ppih (MGI:106499)
chr1 42682234 42703802 1p34 1p34.2 154030 YBX1, NSEP1, YB1, DBPB Y box binding protein 1 (major histocompatibility complex, class II, Y box-binding protein I) YBX1 4904 ENSG00000065978 Ybx1 (MGI:99146)
chr1 42733092 42740253 1p34.2 1p34.2 610036 CLDN19, HOMG5 Claudin 19 CLDN19 149461 ENSG00000164007 Hypomagnesemia 5, renal, with ocular involvement, 248190 (3), Autosomal recessive Cldn19 (MGI:3033992)
chr1 42746334 42767083 1p34 1p34.2 610339 P3H1, LEPRE1, GROS1, OI8 Prolyl 3-hydroxylase 1 P3H1 64175 ENSG00000117385 Osteogenesis imperfecta, type VIII, 610915 (3), Autosomal recessive P3h1 (MGI:1888921)
chr1 42807051 42817387 1p34.2 1p34.2 617853 SVBP, CCDC23 Small vasohibin-binding protein SVBP 374969 ENSG00000177868 Svbp (MGI:1916466)
chr1 42817104 42844988 1p34 1p34.2 609017 ERMAP, SC, RD Erythroblast membrane-associated protein ERMAP 114625 ENSG00000164010 [Blood group, Radin], 111620 (3); [Blood group, Scianna system], 111750 (3) Ermap (MGI:1349816)
chr1 42925374 42959175 1p34.2 1p34.2 138140 SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN Solute carrier family 2 (facilitated glucose transporter), member 1 SLC2A1 6513 ENSG00000117394 probably in 1p33 Dystonia 9, 601042 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3), Autosomal dominant; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3), Autosomal recessive, Autosomal dominant; GLUT1 deficiency syndrome 2, childhood onset, 612126 (3), Autosomal dominant; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3), Autosomal dominant Slc2a1 (MGI:95755)
chr1 43164173 43172569 1p35-p33 1p34.2 614443 EBNA1BP2, EBP2 EBNA1-binding protein 2 EBNA1BP2 10969 ENSG00000117395 Ebna1bp2 (MGI:1916322)
chr1 43172329 43254357 1p34.2 1p34.2 614259 WDR65 WD repeat-containing protein 65 CFAP57 149465 ENSG00000243710 Cfap57 (MGI:2686209)
chr1 43300894 43323109 1p34-p33 1p34.2 600222 TIE, JTK14, TIE1 Tyrosine kinase with immunoglobulin and epidermal growth factor homology domains TIE1 7075 ENSG00000066056 Tie1 (MGI:99906)
chr1 43336874 43354463 1p34 1p34.2 159530 MPL, TPOR, MPLV, THCYT2 Myeloproliferative leukemia virus, homolog of MPL 4352 ENSG00000117400 Myelofibrosis with myeloid metaplasia, somatic, 254450 (3); Thrombocythemia 2, 601977 (3), Autosomal dominant, Somatic mutation; Thrombocytopenia, congenital amegakaryocytic, 604498 (3), Autosomal recessive Mpl (MGI:97076)
chr1 43358954 43363202 1p34.2-p33 1p34.2 603618 CDC20 Cell division cycle 20, S. cerevisiae, homolog of CDC20 991 ENSG00000117399 pseudogene on 9q13-q21 Cdc20 (MGI:1859866)
chr1 43363396 43368073 1p34.2 1p34.2 611813 ELOVL1, SSC1 Elongation of very long chain fatty acids-like 1 ELOVL1 64834 ENSG00000066322 Elovl1 (MGI:1858959)
chr1 43383907 43389811 1p34.2 1p34.2 607956 MED8 Mediator complex subunit 8 MED8 112950 ENSG00000159479 Med8 (MGI:1915269)
chr1 43389883 43454246 1p34.2 1p34.2 615463 SZT2, KIAA0467, EIEE18 Seizure threshold 2, mouse, homolog of SZT2 23334 ENSG00000198198 Epileptic encephalopathy, early infantile, 18, 615476 (3), Autosomal recessive Szt2 (MGI:3033336)
chr1 43522237 43623671 1p32 1p34.2 179590 PTPRF, LAR, BNAH2 Protein tyrosine phosphatase, receptor type, f polypeptide PTPRF 5792 ENSG00000142949 mutation identified in 1 BNAH2 family ?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3), Autosomal recessive Ptprf (MGI:102695)
chr1 43650125 43705517 1p34.1 1p34.2-p34.1 609764 KDM4A, JMJD2A, JHDM3A, KIAA0677 Lysine-specific demethylase 4A KDM4A 9682 ENSG00000066135 Kdm4a (MGI:2446210)
chr1 43700000 60800000 1p34.1-p32 178300 PTOS1 Ptosis, congenital 1, autosomal dominant PTOS1 5765 Ptosis, hereditary congenital, 1, 178300 (2), Autosomal dominant
chr1 43707464 43931164 1p34.1 1p34.1 606494 ST3GAL3, SIAT6, ST3GALII, MRT12, EIEE15 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ST3GAL3 6487 ENSG00000126091 mutation identified in 1 EIEE15 family ?Epileptic encephalopathy, early infantile, 15, 615006 (3), Autosomal recessive; Mental retardation, autosomal recessive 12, 611090 (3), Autosomal recessive St3gal3 (MGI:1316659)
chr1 43946805 43968021 1p34.1 1p34.1 610411 IPO13, IMP13, KIAA0724, RANBP13 Importin 13 IPO13 9670 ENSG00000117408 Ipo13 (MGI:2385205)
chr1 43969980 43973370 1p34 1p34.1 603456 DPH2, DPH2L2 DPH2, S. cerevisiae, homolog of DPH2 1802 ENSG00000132768 Dph2 (MGI:1914978)
chr1 43974647 43978299 1p32.3 1p34.1 603717 ATP6V0B, ATP6F ATPase, H+ transporting, lysosomal 21kD, V0 subunit c'' ATP6V0B 533 ENSG00000117410 Atp6v0b (MGI:1890510)
chr1 43979201 43991170 1p33-p32 1p34.1 604013 B4GALT2 Beta-1,4-galactosyltransferase 2 B4GALT2 8704 ENSG00000117411 B4galt2 (MGI:1858493)
chr1 43996482 44031491 1p33 1p34.1 601019 SLC6A9, GLYT1, GCENSG Solute carrier family 6 (neurotransmitter transporter, glycine), member 9 SLC6A9 6536 ENSG00000196517 Glycine encephalopathy with normal serum glycine, 617301 (3), Autosomal recessive Slc6a9 (MGI:95760)
chr1 44043926 44135139 1p34.1 1p34.1 609602 ZNF393 Zinc finger protein-393 KLF17 128209 ENSG00000171872 Klf17 (MGI:2181068)
chr1 44213443 44220678 1p34.1 1p34.1 605077 DNMAP1, DMAP1 DNMT1-associated protein 1 DMAP1 55929 ENSG00000178028 Dmap1 (MGI:1913483)
chr1 44221069 44355297 1p32 1p34.1 609917 PRNPIP, PINT1 Prion protein-interacting protein ERI3 79033 ENSG00000117419 Eri3 (MGI:2153887)
chr1 44405159 44651723 1p34.1 1p34.1 616136 RNF220 RING finger protein 220 RNF220 55182 ENSG00000187147 Rnf220 (MGI:1913993)
chr1 44739703 44767766 1p34.1 1p34.1 604538 KIF2C, KNSL6, MCAK Kinesin family, member 2C KIF2C 11004 ENSG00000142945 Kif2c (MGI:1921054)
chr1 44775573 44778739 1p34.1-p32 1p34.1 600357 RPS8 Ribosomal protein S8 RPS8 6202 ENSG00000142937 Rps8 (MGI:98166)
chr1 44782144 44792827 1p33-p32.3 1p34.1 607336 BEST4, VMD2L2 Bestrophin 4 BEST4 266675 ENSG00000142959
chr1 44799951 44805994 1p34.1 1p34.1 602913 PLK3, CNK, PRK Polo-like kinase 3 PLK3 1263 ENSG00000173846 previously assigned to 8p21 by FISH Plk3 (MGI:109604)
chr1 44805907 44809751 1p34.1 1p34.1 611713 TCTEX1D4 TCTEX1 domain-containing 4 TCTEX1D4 343521 ENSG00000188396 Tctex1d4 (MGI:3045358)
chr1 44819843 44842943 1p32 1p34.1 603673 PTCH2 Patched, Drosophila, homolog of, 2 PTCH2 8643 ENSG00000117425 Basal cell carcinoma, somatic, 605462 (3); Basal cell nevus syndrome, 109400 (3), Autosomal dominant; Medulloblastoma, somatic, 155255 (3) Ptch2 (MGI:1095405)
chr1 44850521 44986721 1p34.1 1p34.1 606273 EIF2B3 Eukaryotic translation initiation factor 2B, subunit 3 EIF2B3 8891 ENSG00000070785 Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive Eif2b3 (MGI:1313286)
chr1 45012132 45015668 1p34 1p34.1 613521 UROD Uroporphyrinogen decarboxylase UROD 7389 ENSG00000126088 Porphyria cutanea tarda, 176100 (3), Autosomal recessive, Autosomal dominant; Porphyria, hepatoerythropoietic, 176100 (3), Autosomal recessive, Autosomal dominant Urod (MGI:98916)
chr1 45329241 45340469 1p34.3-p32.1 1p34.1 604933 MUTYH, MYH MutY, E. coli, homolog of MUTYH 4595 ENSG00000132781 Adenomas, multiple colorectal, 608456 (3), Autosomal recessive; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3), Somatic mutation; Gastric cancer, somatic, 613659 (3) Mutyh (MGI:1917853)
chr1 45339669 45343977 1p34.1 1p34.1 613931 TOE1, PCH7 Target of EGR1 TOE1 114034 ENSG00000132773 Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive Toe1 (MGI:1915526)
chr1 45343882 45491341 1p32 1p34.1 604746 TESK2 Testis-specific protein kinase 2 TESK2 10420 ENSG00000070759 Tesk2 (MGI:2385204)
chr1 45500183 45511265 1p34.1 1p34.1 609831 MMACHC MMACHC gene MMACHC 25974 ENSG00000132763 Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3), Autosomal recessive Mmachc (MGI:1914346)
chr1 45511034 45522889 1p34.1 1p34.1 176763 PRDX1, PRXI, PAGA, NKEFA Peroxiredoxin 1 PRDX1 5052 ENSG00000117450 pseudogene PAGB on 9p22 Methylmalonic aciduria and homocystinuria, cblC type, digenic, 277400 (3), Autosomal recessive Prdx1 (MGI:99523)
chr1 45550778 45570050 1p33-p32 1p34.1 103830 AKR1A1, ALR Aldo-keto reductase family 1, member A1 (aldehyde reductase) AKR1A1 10327 ENSG00000117448 Akr1a1 (MGI:1929955)
chr1 45583987 45618905 1p34.1 1p34.1 603185 NASP Nuclear autoantigenic sperm protein NASP 4678 ENSG00000132780 Nasp (MGI:1355328)
chr1 45694323 45750812 1p32-p22 1p34.1 147485 IPP Intracisternal A particle-promoted polypeptide IPP 3652 ENSG00000197429 Ipp (MGI:96581)
chr1 45786991 46036123 1p34.1 1p34.1 612257 MAST2, MAST205, KIAA0807 Microtubule-associated serine/threonine kinase 2 MAST2 23139 ENSG00000086015 Mast2 (MGI:894676)
chr1 46040139 46174900 1p34.2 1p34.1 606076 PIK3R3 Phosphatidylinositol 3-kinase, regulatory, 3 PIK3R3 8503 ENSG00000117461 Pik3r3 (MGI:109277)
chr1 46175076 46196488 1p34.1 1p34.1 613170 TSPAN1, NET1 Tetraspanin 1 TSPAN1 10103 ENSG00000117472 Tspan1 (MGI:1914055)
chr1 46188680 46220304 1p34-p33 1p34.1 606822 POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76 Protein 0-mannose beta-1,2-N-acetylglucosaminyltransferase POMGNT1 55624 ENSG00000085998 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3), Autosomal recessive; Retinitis pigmentosa 76, 617123 (3), Autosomal recessive Pomgnt1 (MGI:1915523)
chr1 46203333 46221255 1p34.1 1p34.1 616129 LURAP1, LRAP35A Leucine-rich adaptor protein 1 LURAP1 541468 ENSG00000171357 Lurap1 (MGI:1915325)
chr1 46247694 46278476 1p32 1p34.1 603615 RAD54L, HR54, HRAD54 RAD54, S. cerevisiae, homolog-like RAD54L 8438 ENSG00000085999 Adenocarcinoma, colonic, somatic (3); {Breast cancer, invasive ductal}, 114480 (3), Autosomal dominant; Lymphoma, non-Hodgkin, somatic, 605027 (3) Rad54l (MGI:894697)
chr1 46300000 60800000 1p33-p32 612728 BMND14 Bone mineral density quantitative trait locus 14 100294718 associated with rs17131547 [Bone mineral density QTL 14], 612728 (2)
chr1 46300000 84400000 1p33-p31.1 613606 FWS Forsythe-Wakeling syndrome 100529224 between rs2354462 and rs718883 Forsythe-Wakeling syndrome, 613606 (2), Autosomal recessive
chr1 46300000 50200000 1p33 613857 OFC13 Orofacial cleft 13 100653367 associated with rs3827730 Orofacial cleft 13, 613857 (2), Autosomal dominant
chr1 46300000 50200000 1p33 616392 SKINTL, SKINTP SKINT1-like pseudogene SKINT1L 391037
chr1 46303612 46316776 1p34.1 1p33 613844 UQCRH Ubiquinol-cytochrome c reductase hinge protein UQCRH 7388 ENSG00000173660 pseudogene on 1p36 Uqcrh-ps1 (MGI:3641869)
chr1 46340176 46365151 1p33 1p33 615394 NSUN4 NOP2/SUN RNA methyltransferase family, member 4 NSUN4 387338 ENSG00000117481 Nsun4 (MGI:1919431)
chr1 46394266 46413847 1p33 1p33 602935 FAAH Fatty acid amide hydrolase FAAH 2166 ENSG00000117480 {Drug addiction, susceptibility to}, 606581 (3) Faah (MGI:109609)
chr1 46489836 46514225 1p33 1p33 607410 DMBX1, OTX3 Diencephalon/mesencephalon homeobox 1 DMBX1 127343 ENSG00000197587 Dmbx1 (MGI:2153518)
chr1 46545637 46551656 1p33 1p33 611455 KNCN, KINO, L5 Kinocilin KNCN 148930 ENSG00000162456 Kncn (MGI:3614952)
chr1 46557406 46604310 1p33 1p33 606724 MKNK1, MNK1 Mitogen-activated protein kinase-interacting serine/threonine kinase 1 MKNK1 8569 ENSG00000079277 Mknk1 (MGI:894316)
chr1 46798997 46819348 1p34-p12 1p33 124075 CYP4B1 Cytochrome P450, subfamily IVB, polypeptide 1 CYP4B1 1580 ENSG00000142973 Cyp4b1 (MGI:103225)
chr1 46929173 46941483 1p33 1p33 601310 CYP4A11 Cytochrome P450, subfamily IVA, polypeptide 11 CYP4A11 1579 ENSG00000187048 Cyp4a10,Cyp4a32,Cyp4a31 (MGI:88611,MGI:3717148,MGI:3028580)
chr1 46961363 47055431 1p33 1p33 614999 CYP4X1, CYPIVX1 Cytochrome P450, family 4, subfamily X, polypeptide 1 CYP4X1 260293 ENSG00000186377 Cyp4x1 (MGI:1932403)
chr1 47137424 47149737 1p33 1p33 615341 CYP4A22 Cytochrome P450, family 4, subfamily A, polypeptide 22 CYP4A22 284541 ENSG00000162365 Cyp4a12a,Cyp4a12b (MGI:3611747,MGI:88612)
chr1 47183588 47190098 1p33 1p33 607178 PDZK1IP1, MAP17 PDZK1-interacting protein 1 PDZK1IP1 10158 ENSG00000162366 near SLC in human, mouse, chicken, zebrafish Pdzk1ip1 (MGI:1914432)
chr1 47216289 47232388 1p32 1p33 187040 TAL1, TCL5, SCL T-cell acute lymphocytic leukemia-1 TAL1 6886 ENSG00000162367 proximal to MYCL1 Leukemia, T-cell acute lymphocytic, somatic, 613065 (3) Tal1 (MGI:98480)
chr1 47250138 47314786 1p33 1p33 181590 STIL, SIL, MCPH7 SCL/TAL1-interrupting locus STIL 6491 ENSG00000123473 within about 250kb of SCL Microcephaly 7, primary, autosomal recessive, 612703 (3), Autosomal recessive Stil (MGI:107477)
chr1 47333796 47378838 1p32 1p33 191710 CMPK1, CMPK, UMPK, UMK, CMK Cytidine monophosphate (UMP-CMP) kinase 1, cytosolic CMPK1 51727 ENSG00000162368 Cmpk1 (MGI:1913838)
chr1 47416071 47418051 1p32 1p33 601094 FOXE3, FKHL12, ASMD, CTRCT34, ASGD2, AAT11 Forkhead box E3 FOXE3 2301 ENSG00000186790 Anterior segment dysgenesis 2, multiple subtypes, 610256 (3), Autosomal recessive; {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3), Autosomal dominant; Cataract 34, multiple types, 612968 (3)
chr1 47436016 47440690 1p34-p32 1p33 602211 FOXD2, FKHL17, FREAC9 Forkhead box D2 FOXD2 2306 ENSG00000186564 Foxd2 (MGI:1347471)
chr1 47760527 47997367 1p33 1p33 614913 TRABD2B, TIKI2 TRAB domain-containing protein 2B TRABD2B 388630 ENSG00000269113 Trabd2b (MGI:3650152)
chr1 48258642 48472207 1p33 1p33 613947 SPATA6, SRF1, HASH Spermatogenesis-associated protein 6 SPATA6 54558 ENSG00000132122 Spata6 (MGI:1915196)
chr1 48520156 50023953 1p33 1p33 616476 AGBL4, CCP6 ATP/GTP-binding protein-like 4 AGBL4 84871 ENSG00000186094 Agbl4 (MGI:1918244)
chr1 50048013 50203785 1p34 1p33-p32 168360 ELAVL4, HUD, PNEM Embryonic lethal, abnormal vision, Drosophila, homolog of, like-4 (Hu antigen D) ELAVL4 1996 ENSG00000162374 Neuropathy, paraneoplastic sensory (1) Elavl4 (MGI:107427)
chr1 50200000 60800000 1p32 606852 PARK10, AAOPD Parkinson disease 10 PARK10 170534 max lod at D1S2652; ?associated with CDCP2 {Parkinson disease 10}, 606852 (2)
chr1 50200000 60800000 1p32 613548 STQTL23 Stature quantitative trait locus 23 100529222 linked to rs628667 {Stature QTL 23}, 613548 (2)
chr1 50417549 50423446 1p33-p32.3 1p32.3 614804 DMRTA2 Doublesex- and MAB3-related transcription factor A2 DMRTA2 63950 ENSG00000142700 Dmrta2 (MGI:2653629)
chr1 50441262 50960263 1p33 1p32.3 604460 FAF1, HFAF1 Fas-associated factor 1 FAF1 11124 ENSG00000185104 Faf1 (MGI:109419)
chr1 50968694 50974636 1p32 1p32.3 603369 CDKN2C, INK4C Cyclin-dependent kinase inhibitor 2C CDKN2C 1031 ENSG00000123080 Cdkn2c (MGI:105388)
chr1 51236272 51273446 1p32-p31 1p32.3 612598 RNF11 Ring finger protein 11 RNF11 26994 ENSG00000123091 Rnf11 (MGI:1352759)
chr1 51354262 51519322 1p32 1p32.3 600051 EPS15 Epidermal growth factor receptor pathway substrate-15 EPS15 2060 ENSG00000085832 Eps15 (MGI:104583)
chr1 51616873 51789218 1p34.2-p32.2 1p32.3 606737 OSBPL9, ORP9 Oxysterol-binding protein-like protein 9 OSBPL9 114883 ENSG00000117859 Osbpl9 (MGI:1923784)
chr1 51789191 51878936 1p32.2 1p32.3 602651 NRD1 Nardilysin (N-arginine dibasic convertase) NRDC 4898 ENSG00000078618 Nrd1 (MGI:1201386)
chr1 51907955 51990763 1p32-p31 1p32.3 179510 RAB3B Brain antigen RAB3B RAB3B 5865 ENSG00000169213 Rab3b (MGI:1917158)
chr1 52020130 52056170 1p32.3 1p32.3 609448 TXNDC12, TLP19, ERP18 Thioredoxin domain-containing protein 12 TXNDC12 51060 ENSG00000117862 Txndc12 (MGI:1913323)
chr1 52142000 52348663 1p32.3 1p32.3 603755 ZFYVE9, MADHIP, SARA Zinc finger, FYVE domain containing 9 ZFYVE9 9372 ENSG00000157077 Zfyve9 (MGI:2652838)
chr1 52372828 52404470 1p32 1p32.3 601902 ORC1, ORC1L Origin recognition complex, subunit 1, S. cerevisiae, homolog ORC1 4998 ENSG00000085840 Meier-Gorlin syndrome 1, 224690 (3), Autosomal recessive Orc1 (MGI:1328337)
chr1 52404546 52418319 1p32.3 1p32.3 617031 PRPF38A, PRP38A Precursor mRNA-processing factor 38, S. cerevisiae, homolog of, A PRPF38A 84950 ENSG00000134748 Prpf38a (MGI:1916962)
chr1 52423274 52553462 1q23.3 1p32.3 613692 ZCCHC11, KIAA0191 Zinc finger CCHC domain-containing protein 11 ZCCHC11 23318 ENSG00000134744 Zcchc11 (MGI:2445126)
chr1 52602370 52609050 1p32 1p32.3 615784 GPX7, NPGPX Glutathione peroxidase 7 GPX7 2882 ENSG00000116157 Gpx7 (MGI:1914555)
chr1 52686341 52698365 1p32.3 1p32.3 615623 COA7, RESA1, SELRC1, C1orf163 Cytochrome C oxidase assembly factor COA7 65260 ENSG00000162377 mutation identified in 1 COX4D patient ?Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial Coa7 (MGI:1917143)
chr1 52927228 53051616 1p32 1p32.3 184755 SCP2 Sterol carrier protein-2 SCP2 6342 ENSG00000116171 mutation identified in 1 LKDMN patient ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3), Autosomal recessive Scp2 (MGI:98254)
chr1 53062051 53085501 1p32.3 1p32.3 608661 PODN Podocan PODN 127435 ENSG00000174348 Podn (MGI:2674939)
chr1 53196428 53214196 1p32 1p32.3 600650 CPT2, IIAE4 Carnitine palmitoyltransferase II CPT2 1376 ENSG00000157184 formerly at 1p13 CPT II deficiency, infantile, 600649 (3), Autosomal recessive; CPT II deficiency, lethal neonatal, 608836 (3), Autosomal recessive; CPT II deficiency, myopathic, stress-induced, 255110 (3), Autosomal recessive, Autosomal dominant; {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3), Autosomal recessive, Autosomal dominant Cpt2 (MGI:109176)
chr1 53226891 53238609 1p34-p33 1p32.3 602603 MAGOH Mago nashi, Drosophila, homolog of, proliferation-associated MAGOH 4116 ENSG00000162385 Magoh (MGI:1330312)
chr1 53242363 53328148 1p34 1p32.3 602600 LRP8, APOER2, MCI1 Low density lipoprotein receptor-related protein 8 (Apolipoprotein E receptor 2) LRP8 7804 ENSG00000157193 {Myocardial infarction, susceptibility to}, 608446 (3) Lrp8 (MGI:1340044)
chr1 53459398 53467487 1p32.2 1p32.3 614805 DMRTB1 Doublesex- and MAB3-related transcription factor B1 DMRTB1 63948 ENSG00000143006 Dmrtb1 (MGI:1927125)
chr1 53506232 53739170 1p32.3 1p32.3 610378 GLIS1 Glis family zinc finger protein 1 GLIS1 148979 ENSG00000174332 Glis1 (MGI:2386723)
chr1 53765459 53838551 1p32.3 1p32.3 610115 TMEM48, NDC1 Transmembrane protein 48 NDC1 55706 ENSG00000058804 Ndc1 (MGI:1920037)
chr1 53851718 53889830 1p32.3 1p32.3 617521 YIPF1 YIP1 domain family, member 1 YIPF1 54432 ENSG00000058799 Yipf1 (MGI:1915532)
chr1 53894186 53911085 1p33-p32 1p32.3 147892 DIO1, TXDI1 Deiodinase, iodothyronine, type I DIO1 1733 ENSG00000211452 Dio1 (MGI:94896)
chr1 54026680 54053572 1p32.3 1p32.3 617084 TMEM59, DCF1 Transmembrane protein 59 TMEM59 9528 ENSG00000116209 Tmem59 (MGI:1929278)
chr1 54132719 54153180 1p32 1p32.3 612320 CDCP2 Cub domain-containing protein 2 CDCP2 200008 ENSG00000157211 ?associated with PARK10 Cdcp2 (MGI:3045328)
chr1 54200166 54225488 1p32.1 1p32.3 611843 MRPL37 Mitochondrial ribosomal protein L37 MRPL37 51253 ENSG00000116221 Mrpl37 (MGI:1926268)
chr1 54225430 54413478 1p31.3 1p32.3 607390 SSBP3 Single-stranded DNA-binding protein 3 SSBP3 23648 ENSG00000157216 Ssbp3 (MGI:1919725)
chr1 54548133 54634743 1p32.3 1p32.3 606803 ACOT11, THEA, BFIT, BFIT1, BFIT2, KIAA0707 Acyl-CoA thioesterase 11 ACOT11 26027 ENSG00000162390 Acot11 (MGI:1913736)
chr1 54715821 54742656 1p31.3 1p32.3 606753 TTC4 Tetratricopeptide repeat domain 4 TTC4 7268 ENSG00000243725 pseudogene on 7p14-p13 Ttc4 (MGI:1919604)
chr1 54756897 54764552 1p32.2 1p32.3 612036 PARS2 Prolyl-tRNA synthetase 2 PARS2 25973 ENSG00000162396 Pars2 (MGI:2386296)
chr1 54806062 54842263 1p32.3 1p32.3 616446 LEXM, C1orf177, LEM Lymphocyte expansion molecule LEXM 163747 ENSG00000162398 Lexm (MGI:2681853)
chr1 54849626 54887247 1p33-p31.1 1p32.3 606418 DHCR24, KIAA0018 24-dehydrocholesterol reductase DHCR24 1718 ENSG00000116133 Desmosterolosis, 602398 (3), Autosomal recessive Dhcr24 (MGI:1922004)
chr1 54998943 55008791 1p31 1p32.3 606412 BSND Barttin BSND 7809 ENSG00000162399 Bartter syndrome, type 4a, 602522 (3), Autosomal recessive; Sensorineural deafness with mild renal dysfunction, 602522 (3), Autosomal recessive Bsnd (MGI:2153465)
chr1 55039475 55064852 1p32.3 1p32.3 607786 PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1 Proprotein convertase, subtilisin/kexin-type, 9 PCSK9 255738 ENSG00000169174 Hypercholesterolemia, familial, 3, 603776 (3); {Low density lipoprotein cholesterol level QTL 1}, 603776 (3) Pcsk9 (MGI:2140260)
chr1 55066358 55215373 1p32.3 1p32.3 610569 USP24, KIAA1057 Ubiquitin-specific protease 24 USP24 23358 ENSG00000162402 Usp24 (MGI:1919936)
chr1 56494746 56579583 1p32.2 1p32.2 607125 PLPP3, PPAP2B Phospholipid phosphatase 3 PLPP3 8613 ENSG00000162407 Plpp3 (MGI:1915166)
chr1 56645316 56715334 1p31 1p32.2 600497 PRKAA2, AMPK Protein kinase, AMP-activated, alpha-2 catalytic subunit PRKAA2 5563 ENSG00000162409 Prkaa2 (MGI:1336173)
chr1 56854769 56918220 1p32 1p32.2 120950 C8A Complement component-8, alpha polypeptide C8A 731 ENSG00000157131 C8 deficiency, type I, 613790 (3), Autosomal recessive C8a (MGI:2668347)
chr1 56929209 56974382 1p32 1p32.2 120960 C8B Complement component-8, beta polypeptide C8B 732 ENSG00000021852 C8 deficiency, type II, 613789 (3), Autosomal recessive C8b (MGI:88236)
chr1 56994777 58250546 1p32-p31 1p32.2 603448 DAB1, SCA37 Disabled, Drosophila, homolog 1 DAB1 1600 ENSG00000173406 Spinocerebellar ataxia 37, 615945 (3), Autosomal dominant Dab1 (MGI:108554)
chr1 58480718 58546798 1p32.3-p32.1 1p32.2-p32.1 617081 OMA1, MPRP1 OMA1 zinc metallopeptidase OMA1 115209 ENSG00000162600 Oma1 (MGI:1914263)
chr1 58575422 58577493 1p32 1p32.1 137290 TACSTD2, TROP2, M1S1 Tumor-associated calcium signal transducer 2 TACSTD2 4070 ENSG00000184292 Corneal dystrophy, gelatinous drop-like, 204870 (3), Autosomal recessive Tacstd2 (MGI:1861606)
chr1 58654738 58700090 1p32.1 1p32.1 612176 MYSM1, 2ADUB, KIAA1915 MYB-like, SWIRM, and MPN domains-containing protein 1 MYSM1 114803 ENSG00000162601 Mysm1 (MGI:2444584)
chr1 58780790 58784112 1p32-p31 1p32.1 165160 JUN Avian sarcoma virus 17 (v-jun) oncogene homolog JUN 3725 ENSG00000177606 Jun (MGI:96646)
chr1 59296404 59762729 1p32.1 1p32.1 611370 FGGY, FLJ10986 FGGY carbohydrate kinase domain-containing protein FGGY 55277 ENSG00000172456 Fggy (MGI:1922828)
chr1 59814860 59876377 1p32.1 1p32.1 607820 HOOK1, HK1 Hook, Drosophila, homolog of, 1 HOOK1 51361 ENSG00000134709 Hook1 (MGI:1925213)
chr1 59893307 59926797 1p31.3-p31.2 1p32.1 601258 CYP2J2 Cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase), polypeptide 2 CYP2J2 1573 ENSG00000134716 Cyp2j6 (MGI:1270148)
chr1 60800000 84400000 1p31 601676 AIR Acute insulin response 7808 Acute insulin response, 601676 (2)
chr1 60800000 84400000 1p31 610906 ASRT4 Asthma-related traits, susceptibility to, 4 100188823 max lod at D1S2890 {Asthma-related traits, susceptibility to, 4}, 610906 (2)
chr1 60800000 106700000 1p31-p21 606215 AVSD1, AVCD Atrioventricular septal defect, susceptibility to, 1 AVSD1 7446 {Atrioventricular septal defect, susceptibility to, 1}, 606215 (2)
chr1 60800000 84400000 1p31 615892 OFC14 Orofacial cleft 14 103581096 Orofacial cleft 14, 615892 (2), Autosomal recessive
chr1 60800000 68500000 1p31.3 164750 OPHLC, C1DUPp31.3, DUP1p31.3 Omphalocele due to duplication of 1p31.3 duplication of 710kb at 1p31.3 Omphalocele due to duplication of 1p31.3, 164750 (4), Autosomal dominant
chr1 60800000 84400000 1p31 606787 PAOD1 Peripheral arterial occlusive disease 1 171513 Peripheral arterial occlusive disease 1, 606787 (2)
chr1 60800000 84400000 1p31.3-p31.1 612293 POROK5, DSAP3 Porokeratosis 5, disseminated superficial actinic 100190982 between D1S438 and D1S464 Porokeratosis 5, disseminated superficial actinic, 612293 (2)
chr1 61077256 61462787 1p31.3-p31.2 1p31.3 600727 NFIA, BRMUTD Nuclear factor I/A NFIA 4774 ENSG00000162599 Brain malformations with or without urinary tract defects, 613735 (3), Isolated cases Nfia (MGI:108056)
chr1 61681046 61725422 1p31.3 1p31.3 610080 TM2D1, BBP TM2 domain-containing protein 1 TM2D1 83941 ENSG00000162604 Tm2d1 (MGI:2137022)
chr1 61742465 62163919 1p31.3 1p31.3 603199 INADL, PATJ INAD, Drosophila, homolog of PATJ 10207 ENSG00000132849 Patj (MGI:1277960)
chr1 62236164 62319413 1p31.3 1p31.3 614612 KANK4 KN motif- and ankyrin repeat domain-containing protein 4 KANK4 163782 ENSG00000132854 Kank4 (MGI:3043381)
chr1 62436303 62451803 1p32.1-p31.3 1p31.3 603478 USP1 Ubiquitin-specific protease 1 USP1 7398 ENSG00000162607 Usp1 (MGI:2385198)
chr1 62454725 62688367 1p31.3 1p31.3 615730 DOCK7, KIAA1771, EIEE23 Dedicator of cytokinesis 7 DOCK7 85440 ENSG00000116641 Epileptic encephalopathy, early infantile, 23, 615859 (3), Autosomal recessive Dock7 (MGI:1914549)
chr1 62597486 62606304 1p31 1p31.3 604774 ANGPTL3, ANGPT5, FHBL2 Angiopoietin-like 3 ANGPTL3 27329 ENSG00000132855 Hypobetalipoproteinemia, familial, 2, 605019 (3), Autosomal recessive Angptl3 (MGI:1353627)
chr1 62783764 62865269 1p31.3 1p31.3 611339 ATG4C, APG4C Autophagy 4, S. cerevisiae, homolog of, C ATG4C 84938 ENSG00000125703 Atg4c (MGI:2651854)
chr1 63323058 63325125 1p31 1p31.3 611539 FOXD3, AIS1, VAMAS2 Forkhead box D3 FOXD3 27022 ENSG00000187140 {Autoimmune disease, susceptibility to, 1}, 607836 (3), Autosomal dominant Foxd3 (MGI:1347473)
chr1 63367589 63438561 1p22.3 1p31.3 604566 ALG6, CDG1C Alg6, S. cerevisiae, homolog of ALG6 29929 ENSG00000088035 Congenital disorder of glycosylation, type Ic, 603147 (3), Autosomal recessive Alg6 (MGI:2444031)
chr1 63440769 63529394 1p31.3 1p31.3 605494 ITGB3BP, NRIF3 Integrin, beta-3, binding protein of ITGB3BP 23421 ENSG00000142856 Itgb3bp (MGI:1914983)
chr1 63523300 63585400 1p31.3 1p31.3 617632 EFCAB7, KIAA1799 EF-hand calcium-binding domain-containing protein 7 EFCAB7 84455 ENSG00000203965 Efcab7 (MGI:2385199)
chr1 63593275 63660244 1p31 1p31.3 171900 PGM1, GSD14, CDG1T Phosphoglucomutase-1 PGM1 5236 ENSG00000079739 distal to ACADM; formerly 1p22.1 Congenital disorder of glycosylation, type It, 614921 (3), Autosomal recessive Pgm2 (MGI:97565)
chr1 63774018 64181497 1p31.3 1p31.3 602336 ROR1, NTRKR1 Receptor tyrosine kinase-like orphan receptor 1 ROR1 4919 ENSG00000185483 mutation identified in 1 DFNB108 family ?Deafness, autosomal recessive 108, 617654 (3), Autosomal recessive Ror1 (MGI:1347520)
chr1 64744978 64833410 1p31.3 1p31.3 609953 RAVER2, KIAA1579 Raver2, mouse, homolog of RAVER2 55225 ENSG00000162437 Raver2 (MGI:2443623)
chr1 64833222 65067745 1p31.3 1p31.3 147795 JAK1 Janus kinase 1 (a protein-tyrosine kinase) JAK1 3716 ENSG00000162434 related gene on 9p24 Jak1 (MGI:96628)
chr1 65058433 65058507 1p31.3 1p31.3 612511 MIR101-1, MIRN101-1 Micro RNA 101-1 MIR101-1 406893 another locus, MIRN101-2, on 9p24
chr1 65147341 65232144 1p31.3 1p31.3 103030 AK3 Adenylate kinase-3, mitochondrial AK4 205 ENSG00000162433 Ak4 (MGI:87979)
chr1 65264693 65415868 1p32.1-p31.3 1p31.3 608375 DNAJC6, DJC6, KIAA0473, PARK19 DNAJ, E. coli, homolog of, subfamily C, member 6 DNAJC6 9829 ENSG00000116675 Parkinson disease 19a, juvenile-onset, 615528 (3), Autosomal recessive; Parkinson disease 19b, early-onset, 615528 (3), Autosomal recessive Dnajc6 (MGI:1919935)
chr1 65420447 65436006 1p31 1p31.3 613461 LEPROT, OBRGRP Leptin receptor overlapping transcript LEPROT 54741 ENSG00000213625 transcribed in same direction as LEPR Leprot (MGI:2687005)
chr1 65420651 65637492 1p31 1p31.3 601007 LEPR, OBR, LEPRD Leptin receptor LEPR 3953 ENSG00000116678 Obesity, morbid, due to leptin receptor deficiency, 614963 (3) Lepr (MGI:104993)
chr1 65792509 66374578 1p31 1p31.3 600127 PDE4B, DPDE4 Phosphodiesterase-4B, cAMP-specific (dunce-like phosphodiesterase E4) PDE4B 5142 ENSG00000184588 Pde4b (MGI:99557)
chr1 66533271 66751138 1p31.3 1p31.3 611540 SGIP1 SH3-domain GRB2-like (endophilin)-interacting protein 1 SGIP1 84251 ENSG00000118473 Sgip1 (MGI:1920344)
chr1 66797740 66801258 1p31.1-p22.3 1p31.3 606413 INSL5 Insulin-like 5 INSL5 10022 ENSG00000172410 Insl5 (MGI:1346085)
chr1 66924894 66988618 1p31.3 1p31.3 616848 MEIR1, KIAA1610 Mesoderm induction-early response protein 1 MIER1 57708 ENSG00000198160 Mier1 (MGI:1918398)
chr1 66999331 67054422 1p32-p31 1p31.3 610804 SLC35D1, UGTREL7, KIAA0260, SHNKND Solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 SLC35D1 23169 ENSG00000116704 Schneckenbecken dysplasia, 269250 (3), Autosomal recessive Slc35d1 (MGI:2140361)
chr1 67138638 67259978 1p31.3 1p31.3 607562 IL23R, IBD17 Interleukin 23 receptor IL23R 149233 ENSG00000162594 {Inflammatory bowel disease 17, protection against}, 612261 (3); {Psoriasis, protection against}, 605606 (3) Il23r (MGI:2181693)
chr1 67307350 67397729 1p31.2 1p31.3 601642 IL12RB2 Interleukin 12 receptor, beta-2 IL12RB2 3595 ENSG00000081985 Il12rb2 (MGI:1270861)
chr1 67407809 67430439 1p31.3 1p31.3 607378 SERBP1, PAIRBP1 Serpine1 mRNA-binding protein 1 SERBP1 26135 ENSG00000142864 Serbp1 (MGI:1914120)
chr1 67685176 67688337 1p34-p12 1p31.3 126335 DDIT1, GADD45 DNA damage-inducible transcript-1 GADD45A 1647 ENSG00000116717 Gadd45a (MGI:107799)
chr1 67701465 67833471 1p31.3 1p31.3 615405 GNG12 Guanine nucleotide-binding protein, gamma 12 GNG12 55970 ENSG00000172380 Gng12 (MGI:1336171)
chr1 67832287 68202986 1p31.3 1p31.3 615406 GNG12AS1 GNG12 antisense RNA 1 GNG12-AS1 100289178
chr1 68045961 68051630 1p31.3 1p31.3 605193 DIRAS3, ARHI DIRAS family, GTP-binding RAS-like protein 3 DIRAS3 9077 ENSG00000162595
chr1 68098458 68233017 1p31.3 1p31.3 611514 WLS, GPR177, EVI WNTless, Drosophila, homolog of WLS 79971 ENSG00000116729 Wls (MGI:1915401)
chr1 68428821 68450321 1p31 1p31.3 180069 RPE65, RP20, LCA2 Retinal pigment epithelium-specific protein, 65kD RPE65 6121 ENSG00000116745 Leber congenital amaurosis 2, 204100 (3), Autosomal recessive; Retinitis pigmentosa 20, 613794 (3), Autosomal recessive Rpe65 (MGI:98001)
chr1 68474151 68497220 1p31.2 1p31.3 612002 DEPDC1 DEP domain-containing 1 DEPDC1 55635 ENSG00000024526 Depdc1a (MGI:1923381)
chr1 68500000 69300000 1p31.2 613008 PBC3 Biliary cirrhosis, primary, 3 100303717 associated with rs3790567 {Biliary cirrhosis, primary, 3}, 613008 (2)
chr1 69300000 106700000 1p31.1-p21.1 609727 SPG29 Spastic paraplegia 29, autosomal dominant SPG29 619379 max lod at D1S2865 Spastic paraplegia 29, autosomal dominant, 609727 (2), Autosomal dominant
chr1 69567129 70152425 1p31.1 1p31.1 614453 LRRC7, DENSIN, KIAA1365 Leucine-rich repeat-containing protein 7 LRRC7 57554 ENSG00000033122 Lrrc7 (MGI:2676665)
chr1 69919321 69920316 1p31 1p31.1 602051 PIN1L Peptidyl-prolyl cis/trans isomerase, NIMA-interacting-like PIN1P1 5301 ?transcribed pseudogene
chr1 70205681 70253051 1p31.1 1p31.1 602010 SRSF11, SFRS11 Splicing factor, serine/arginine-rich, 11 SRSF11 9295 ENSG00000116754 Srsf11 (MGI:1916457)
chr1 70259001 70354976 1p31.1 1p31.1 615125 ANKRD13C Ankyrin repeat domain-containing protein 13C ANKRD13C 81573 ENSG00000118454 Ankrd13c (MGI:2139746)
chr1 70353838 70368022 1p31.1 1p31.1 604372 HHLA3 Human endogenous retrovirus-H long terminal repeat-associating 3 HHLA3 11147 ENSG00000197568
chr1 70411217 70441948 1p31.1 1p31.1 607657 CTH Cystathionine gamma-lyase CTH 1491 ENSG00000116761 previously assigned to chr.16 Cystathioninuria, 219500 (3), Autosomal recessive; Homocysteine, total plasma, elevated (3) Cth (MGI:1339968)
chr1 70852352 71047807 1p31.2 1p31.1 176806 PTGER3, EP3 Prostaglandin E receptor 3, EP3 subtype PTGER3 5733 ENSG00000050628 Ptger3 (MGI:97795)
chr1 71063290 71081288 1p22.1-p21.3 1p31.1 604347 ZRANB2, ZNF265, ZIS Zinc finger RANBP2-type domain-containing protein 2 ZRANB2 9406 ENSG00000132485
chr1 71402941 72282593 1p31.1 1p31.1 613173 NEGR1, KILON Neuronal growth regulator 1 NEGR1 257194 ENSG00000172260 Negr1 (MGI:2444846)
chr1 74198211 74208701 1p31.1 1p31.1 603609 FPGT, GFPP Fucose-1-phosphate guanylyltransferase FPGT 8790 ENSG00000254685 Fpgt (MGI:1922790)
chr1 74235386 74544431 1p31.1 1p31.1 613932 TNNI3K, CCDD TNNI3-interacting kinase TNNI3K 51086 ENSG00000116783 mutation identified in 1 CCDD family ?Cardiac conduction disease with or without dilated cardiomyopathy, 616117 (3), Autosomal dominant Tnni3k (MGI:2443276)
chr1 74705469 74733407 1p31-p22 1p31.1 123691 CRYZ Crystallin, zeta (quinone reductase) CRYZ 1429 ENSG00000116791 Cryz (MGI:88527)
chr1 74733151 74766676 1p31.3 1p31.1 611245 TYW3 tRNA-wybutosine-synthesizing protein 3, S. cerevisiae, homolog of TYW3 127253 ENSG00000162623 Tyw3 (MGI:2445040)
chr1 75128433 75199453 1p31.1 1p31.1 604425 LHX8 LIM homeobox 8 LHX8 431707 ENSG00000162624 Lhx8 (MGI:1096343)
chr1 75724346 75763678 1p31 1p31.1 607008 ACADM, MCAD Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain ACADM 34 ENSG00000117054 Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3), Autosomal recessive Acadm (MGI:87867)
chr1 75786193 75795089 1p31 1p31.1 179080 RABGGTB Rab geranylgeranyltransferase, beta subunit RABGGTB 5876 ENSG00000137955 Rabggtb (MGI:99537)
chr1 75796870 75913237 1p31 1p31.1 602105 MSH4 mutS, E. coli, homolog of, 4 MSH4 4438 ENSG00000057468 Msh4 (MGI:1860077)
chr1 76074683 76637315 1p31.1 1p31.1 610133 ST6GALNAC3, SIAT7C ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 ST6GALNAC3 256435 ENSG00000184005 St6galnac3 (MGI:1341828)
chr1 76867407 77069166 1p31.1 1p31.1 610134 ST6GALNAC5, SIAT7E ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6 sialyltransferase 5 ST6GALNAC5 81849 ENSG00000117069 St6galnac5 (MGI:1349471)
chr1 77088980 77219446 1p31.1 1p31.1 605087 PIGK, GPI8 Phosphatidylinositol glycan, class K PIGK 10026 ENSG00000142892 Pigk (MGI:1913863)
chr1 77281907 77559968 1p31 1p31.1 608009 AK5 Adenylate kinase 5 AK5 26289 ENSG00000154027 Ak5 (MGI:2677491)
chr1 77695986 77759878 1p31.1 1p31.1 615146 USP33, VDU1 Ubiquitin-specific protease 33 USP33 23032 ENSG00000077254 Usp33 (MGI:2159711)
chr1 77779623 77879539 1p31.1 1p31.1 616773 FAM73A, MIGA1 Miga, Drosophila, homolog of, 1 MIGA1 374986 ENSG00000180488 Miga1 (MGI:1924567)
chr1 77888514 77948642 1p32-p31 1p31.1 613121 NEXN, NELIN, CMD1CC, CMH20 Nexilin, rat, homolog of NEXN 91624 ENSG00000162614 Cardiomyopathy, dilated, 1CC, 613122 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 20, 613876 (3), Autosomal dominant Nexn (MGI:1916060)
chr1 77944050 77979434 1p31.1 1p31.1 603444 FUBP1, FUBP, FBP Far upstream element-binding protein 1 FUBP1 8880 ENSG00000162613 Fubp1 (MGI:1196294)
chr1 77979157 78017963 1p31.1 1p31.1 611327 DNAJB4, HLJ1 DNAJ/HSP40 homolog, subfamily B, member 4 DNAJB4 11080 ENSG00000162616 Dnajb4 (MGI:1914285)
chr1 78490973 78540700 1p31.1 1p31.1 600563 PTGFR Prostaglandin F receptor (FP) PTGFR 5737 ENSG00000122420 Ptgfr (MGI:97796)
chr1 78620381 78646144 1p31.1 1p31.1 613975 IFI44L Interferon-induced protein 44-like IFI44L 10964 ENSG00000137959 Ifi44l (MGI:95975)
chr1 78648942 78664077 1p31.1 1p31.1 610468 IFI44, P44 Interferon-induced protein 44 IFI44 10561 ENSG00000137965 Ifi44 (MGI:2443016)
chr1 78889763 79006809 1p31.1 1p31.1 616419 ADGRL4, ETL, ELTD1 Adhesion G protein-coupled receptor L4 ADGRL4 64123 ENSG00000162618 Adgrl4 (MGI:2655562)
chr1 81306103 81993931 1p31.1 1p31.1 607018 ADGRL2, LPHN2, LPHH1, CIRL2, CL2, KIAA0786 Adhesion G protein-coupled receptor L2 ADGRL2 23266 ENSG00000117114 Adgrl2 (MGI:2139714)
chr1 84077974 84238497 1p31.1 1p31.1 176892 PRKACB Protein kinase, cAMP-dependent, catalytic, beta PRKACB 5567 ENSG00000142875 Prkacb (MGI:97594)
chr1 84398531 84415894 1p22.3 1p31.1-p22.3 608057 DNASE2B, DLAD Deoxyribonuclease II beta DNASE2B 58511 ENSG00000137976 Dnase2b (MGI:1913283)
chr1 84400000 94300000 1p22 608035 CMM4 Melanoma, cutaneous malignant, 4 474388 between D1S430 and D1S2664 {Melanoma, cutaneous malignant, 4}, 608035 (2)
chr1 84400000 94300000 1p22 611381 KAZA2 Kala-azar, susceptibility to, 2 101241898 {Kala-azar, susceptibility to, 2}, 611381 (2)
chr1 84400000 94300000 1p22 191540 UOX Urate oxidase, pseudogene UOX 391051 nonsense mutations responsible for absence of enzyme in man and hominoid primates [Urate oxidase deficiency] (1)
chr1 84498322 84506578 1p22 1p22.3 600874 GNG5 Guanine nucleotide-binding protein (G protein), gamma 5 GNG5 2787 ENSG00000174021 Gng5,Gng5-ps (MGI:3783217,MGI:109164)
chr1 84553120 84574479 1p22 1p22.3 600873 CTBS, CTB Chitobiase, di-N-acetyl- CTBS 1486 ENSG00000117151 Ctbs (MGI:1921495)
chr1 84811600 84893212 1p31.1-p22.3 1p22.3 605106 LPAR3, EDG7, LPA3 Lysophosphatidic acid receptor 3 LPAR3 23566 ENSG00000171517 Lpar3 (MGI:1929469)
chr1 84925582 84997121 1p22 1p22.3 607399 MCOLN2 Mucolipin 2 MCOLN2 255231 ENSG00000153898 incorrectly assigned to chr.3 Mcoln2 (MGI:1915529)
chr1 85018081 85048901 1p22.3 1p22.3 607400 MCOLN3 Mucolipin 3 MCOLN3 55283 ENSG00000055732 Mcoln3 (MGI:1890500)
chr1 85265775 85276903 1p22 1p22.3 603517 BCL10, IMD37 B-cell leukemia/lymphoma 10 BCL10 8915 ENSG00000142867 mutation identified in 1 IMD37 patient ?Immunodeficiency 37, 616098 (3), Autosomal recessive; Lymphoma, MALT, somatic, 137245 (3); {Lymphoma, follicular, somatic}, 605027 (3); {Male germ cell tumor, somatic},, 273300 (3); {Mesothelioma, somatic}, 156240 (3); {Sezary syndrome, somatic} (3) Bcl10 (MGI:1337994)
chr1 85318484 85578362 1p22 1p22.3 604743 DDAH1 Dimethylarginine dimethylaminohydrolase-1 DDAH1 23576 ENSG00000153904 Ddah1 (MGI:1916469)
chr1 85580760 85583966 1p22.3 1p22.3 602369 CYR61, IGFBP10 Cysteine-rich angiogenic inducer, 61 (insulin-like growth factor-binding protein-10) CYR61 3491 ENSG00000142871 Cyr61 (MGI:88613)
chr1 85728506 86157035 1p22.3 1p22.3 610025 COL24A1 Collagen, type XXIV, alpha-1 COL24A1 255631 ENSG00000171502 Col24a1 (MGI:1918605)
chr1 86423882 86456557 1p22.3 1p22.3 604003 CLCA2 Chloride channel accessory 2 CLCA2 9635 ENSG00000137975 Clca2 (MGI:2139758)
chr1 86468842 86500293 1p22.3 1p22.3 603906 CLCA1, CACC1 Chloride channel accessory 1 CLCA1 1179 ENSG00000016490 Clca1 (MGI:1346342)
chr1 86547075 86580757 1p22.3 1p22.3 616857 CLCA4, CACC2 Chloride channel accessory 4 CLCA4 22802 ENSG00000016602 Clca4b,Clca4a (MGI:2139790,MGI:2139744)
chr1 86634275 86655375 1p22.32 1p22.3 604337 CLCA3 Chloride channel accessory 3 CLCA3P 9629
chr1 86862444 86914576 1p31 1p22.3 606254 SELENOF, SEP15 Selenoprotein F SELENOF 9403 ENSG00000183291 Selenof (MGI:1927947)
chr1 86914651 87109997 1p22 1p22.3 604844 HS2ST1 Heparan sulfate 2-O-sulfotransferase 1 HS2ST1 9653 ENSG00000153936 Hs2st1 (MGI:1346049)
chr1 87328467 87348922 1p22.3 1p22.3 603129 LMO4 LIM domain only 4 LMO4 8543 ENSG00000143013 Lmo4 (MGI:109360)
chr1 88684143 88836254 1p22.2 1p22.2 602549 PKN2, PRKCL2, PRK2, PAK2 Protein kinase N2 PKN2 5586 ENSG00000065243 Pkn2 (MGI:109211)
chr1 88852637 88891943 1p22.2 1p22.2 189963 GTF2B, TFIIB, TF2B General transcription factor IIb GTF2B 2959 ENSG00000137947 Gtf2b (MGI:2385191)
chr1 88921043 88992959 1p22.2 1p22.2 610656 CCBL2, KAT3 Cysteine conjugate beta-lyase 2 KYAT3 56267 ENSG00000137944 Kyat3 (MGI:2677849)
chr1 89006676 89022869 1p22.2 1p22.2 600413 GBP3 Guanylate-binding protein 3 GBP3 2635 ENSG00000117226 Gbp2b (MGI:95666)
chr1 89052303 89065359 1p22.2 1p22.2 600411 GBP1 Guanylate binding protein 1, interferon-inducible, 67kD GBP1 2633 ENSG00000117228
chr1 89106131 89126158 1p22.2 1p22.2 600412 GBP2 Guanylate-binding protein 2, interferon-inducible GBP2 2634 ENSG00000162645 Gbp2 (MGI:102772)
chr1 89131750 89176039 1p22.2 1p22.2 612468 GBP7 Guanylate-binding protein 7 GBP7 388646 ENSG00000213512 Gbp7 (MGI:2444421)
chr1 89181147 89198949 1p22.2 1p22.2 612466 GBP4 Guanylate-binding protein 4 GBP4 115361 ENSG00000162654 Gbp3 (MGI:1926263)
chr1 89258949 89272860 1p22.2 1p22.2 611467 GBP5 Guanylate-binding protein 5 GBP5 115362 ENSG00000154451 Gbp5 (MGI:2429943)
chr1 89363876 89388159 1p22.2 1p22.2 612467 GBP6 Guanylate-binding protein 6 GBP6 163351 ENSG00000183347 Gbp6,Gbp10,Gbp11,Gbp9,Gbp4 (MGI:3605620,MGI:3646307,MGI:97072,MGI:4359647,MGI:2140937)
chr1 89522625 89597860 1p22.2 1p22.2 612888 LRRC8B, TALRRP, KIAA0231 Leucine-rich repeat-containing protein 8B LRRC8B 23507 ENSG00000197147 Lrrc8b (MGI:2141353)
chr1 89615809 89719534 1p22.2 1p22.2 612889 LRRC8C, FAD158, AD158 Leucine-rich repeat-containing protein 8C LRRC8C 84230 ENSG00000171488 Lrrc8c (MGI:2140839)
chr1 89821013 89936431 1p22.2 1p22.2 612890 LRRC8D, LRRC5 Leucine-rich repeat-containing protein 8D LRRC8D 55144 ENSG00000171492 Lrrc8d (MGI:1922368)
chr1 89995094 90035530 1p22.2 1p22.2 614601 ZNF326, ZIRD Zinc finger protein 326 ZNF326 284695 ENSG00000162664 Zfp326 (MGI:1927246)
chr1 90712021 90717236 1p22.3 1p22.2 605212 BARHL2 BARH-like 2 BARHL2 343472 ENSG00000143032 Barhl2 (MGI:1859314)
chr1 90915297 91022266 1p22.2 1p22.2 614159 ZNF644, MYP21 Zinc finger protein 644 ZNF644 84146 ENSG00000122482 Myopia 21, autosomal dominant, 614167 (3), Autosomal dominant Zfp644 (MGI:1277212)
chr1 91260765 91408007 1p22.2 1p22.2 615684 HFM1, MER3, POF9 Hfm1, ATP-dependent DNA helicase, S. cerevisiae, homolog of HFM1 164045 ENSG00000162669 Premature ovarian failure 9, 615724 (3), Autosomal recessive Hfm1 (MGI:3036246)
chr1 91498967 91525763 1p22 1p22.2-p22.1 603311 CDC7L1, CDC7 Cell division cycle 7, S. Cerevisiae, homolog-like 1 CDC7 8317 ENSG00000097046 Cdc7 (MGI:1309511)
chr1 91500000 111200000 1p22.1-p13.3 608653 DFNB32 Deafness, autosomal recessive 32 DFNB32 113877 max lod at D1S21401 Deafness, autosomal recessive 32, 608653 (2), Autosomal recessive
chr1 91680342 91906001 1p33-p32 1p22.1 600742 TGFBR3 Transforming growth factor, beta receptor III (betaglycan, 300kD) TGFBR3 7049 ENSG00000069702 Tgfbr3 (MGI:104637)
chr1 91949370 92014427 1p22.1 1p22.1 602144 BRDT, SPGF21 Bromodomain, testis-specific BRDT 676 ENSG00000137948 mutation identified in 1 SPGF21 patient ?Spermatogenic failure 21, 617644 (3), Autosomal recessive Brdt (MGI:1891374)
chr1 92029975 92063535 1p22.1 1p22.1 617401 EPHX4, ABHD7 Epoxide hydrolase 4 EPHX4 253152 ENSG00000172031 Ephx4 (MGI:2686228)
chr1 92245785 92441935 1p22-p21 1p22.1 601749 GLML, GVM, VMGLOM Glomulin GLMN 11146 ENSG00000174842 Glomuvenous malformations, 138000 (3), Autosomal dominant Glmn (MGI:2141180)
chr1 92298964 92388174 1p22.1 1p22.1 611476 RPAP2, C1orf82 RNA polymerase II-associated protein 2 RPAP2 79871 ENSG00000122484 Rpap2 (MGI:2141142)
chr1 92473042 92486875 1p22 1p22.1 600871 GFI1, ZNF163, SCN2 Growth factor independent 1 GFI1 2672 ENSG00000162676 mutation identified in 1 SCN2 patient and 1 NICINA patient ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3), Autosomal dominant; ?Neutropenia, severe congenital 2, autosomal dominant, 613107 (3), Autosomal dominant Gfi1 (MGI:103170)
chr1 92508695 92792412 1p22 1p22.1 602942 EVI5, NB4S Ecotropic viral integration site 5 EVI5 7813 ENSG00000067208 Evi5 (MGI:104736)
chr1 92831985 92841923 1p22.1 1p22.1 603634 RPL5, DBA6 Ribosomal protein L5 RPL5 6125 ENSG00000122406 Diamond-Blackfan anemia 6, 612561 (3), Autosomal dominant Rpl5 (MGI:102854)
chr1 92832728 92961521 1p22.1 1p22.1 614542 FAM69A Family with sequence similarity 69, member A FAM69A 388650 ENSG00000154511 Fam69a (MGI:1914516)
chr1 93079218 93139080 1p22.1 1p22.1 609882 MTF2, PCL2, M96 Metal-regulatory transcription factor 2 MTF2 22823 ENSG00000143033 Mtf2 (MGI:105050)
chr1 93149741 93180688 1p22.1 1p22.1 616876 TMED5 Transmembrane p24 trafficking protein 5 TMED5 50999 ENSG00000117500 Tmed5 (MGI:1921586)
chr1 93345920 93362591 1p22.1 1p22.1 601482 DR1 Down-regulator of transcription 1, TBP-binding (negative cofactor 2) DR1 1810 ENSG00000117505 Dr1 (MGI:1100515)
chr1 93448066 93569670 1p22.1 1p22.1 608848 FNBP1L, TOCA1, C1orf39 Formin binding protein 1-like FNBP1L 54874 ENSG00000137942
chr1 93561740 93847149 1p22.1 1p22.1 604704 BCAR3, SH2D3B, NSP2 Breast cancer antiestrogen resistance 3 BCAR3 8412 ENSG00000137936 Bcar3 (MGI:1352501)
chr1 93869457 93879205 1p22.1 1p22.1 611199 DNTTIP2, ERBP, FCF2 DNTT-interacting protein 2 DNTTIP2 30836 ENSG00000067334 Dnttip2 (MGI:1923173)
chr1 93885198 93910369 1p22.1 1p22.1 601176 GCLM, GLCLR Glutamate-cysteine ligase, modifier subunit GCLM 2730 ENSG00000023909 {Myocardial infarction, susceptibility to}, 608446 (3) Gclm (MGI:104995)
chr1 93992836 94121148 1p22.1 1p22.1 601691 ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 ATP-binding transporter, retina-specific ABCA4 24 ENSG00000198691 Cone-rod dystrophy 3, 604116 (3); Fundus flavimaculatus, 248200 (3), Autosomal recessive; {Macular degeneration, age-related, 2}, 153800 (3), Autosomal dominant; Retinal dystrophy, early-onset severe, 248200 (3), Autosomal recessive; Retinitis pigmentosa 19, 601718 (3), Autosomal recessive; Stargardt disease 1, 248200 (3), Autosomal recessive Abca4 (MGI:109424)
chr1 94168906 94275067 1p22.1 1p22.1 610496 ARHGAP29, PARG1 RHO GTPase-activating protein 29 ARHGAP29 9411 ENSG00000137962 Arhgap29 (MGI:2443818)
chr1 94300000 111200000 1p21.3-p13.3 609913 RP32 Retinitis pigmentosa-32 RP32 641433 max lod at D1S485 Retinitis pigmentosa 32, 609913 (2)
chr1 94300000 106700000 1p21 609822 STQTL7 Stature quantitative trait locus 7 100037265 max lod at D1S1631 {Stature QTL 7}, 609822 (2)
chr1 94300000 111200000 1p21-p13.3 600193 WS2B Waardenburg syndrome, type 2B WS2B 7488 Waardenburg syndrome, type 2B, 600193 (2), Autosomal dominant
chr1 94418085 94518662 1p22-p21 1p21.3 170995 ABCD3, PXMP1, PMP70, CBAS5 ATP-binding cassette, subfamily D, member 3 (peroxisomal membrane protein 1, 70kD) ABCD3 5825 ENSG00000117528 mutation identified in 1 CBAS5 family ?Bile acid synthesis defect, congenital, 5, 616278 (3), Autosomal recessive Abcd3 (MGI:1349216)
chr1 94529175 94541856 1p22-p21 1p21.3 134390 F3, TFA Coagulation factor III F3 2152 ENSG00000117525 F3 (MGI:88381)
chr1 94896948 94927222 1p22-p21 1p21.3 602374 CNN3 Calponin 3, acidic CNN3 1266 ENSG00000117519 Cnn3 (MGI:1919244)
chr1 94981564 95072973 1p21.3 1p21.3 612866 ALG14, CMS15 Alg14, S. cerevisiae, homolog of ALG14 199857 ENSG00000172339 mutation identified in 1 CMSWTA family ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 (3) Alg14 (MGI:1914039)
chr1 95234154 95247224 1p21.3 1p21.3 615875 RWDD3, RSUME RWD domain-containing protein 3 RWDD3 25950 ENSG00000122481 Rwdd3 (MGI:1920420)
chr1 96721604 96815048 1p21 1p21.3 608449 PTBP2, NPTB Polypyrimidine tract-binding protein 2 PTBP2 58155 ENSG00000117569 Ptbp2 (MGI:1860489)
chr1 97077742 97921058 1p22 1p21.3 612779 DPYD, DPD Dihydropyrimidine dehydrogenase DPYD 1806 ENSG00000188641 Dihydropyrimidine dehydrogenase deficiency, 274270 (3), Autosomal recessive; 5-fluorouracil toxicity, 274270 (3), Autosomal recessive Dpyd (MGI:2139667)
chr1 98046069 98046170 1p22 1p21.3 614304 MIR137, MIRN137 Micro RNA 137 MIR137 406928
chr1 98661283 98760499 1p21.3 1p21.3 614904 SNX7 Sorting nexin 7 SNX7 51375 ENSG00000162627 Snx7 (MGI:1923811)
chr1 98890244 99006129 1p21.3 1p21.3 617287 PLPPR5, LPPR5, PAP2D, PAP2 Phospholipid phosphatase-related protein 5 PLPPR5 163404 ENSG00000117598 Plppr5 (MGI:1923019)
chr1 99262955 99309583 1p21.3 1p21.3-p21.2 607813 PLPPR4, LPPR4, PRG1, KIAA0455 Phospholipid phosphatase-related protein 4 PLPPR4 9890 ENSG00000117600 Plppr4 (MGI:106530)
chr1 99645874 99694540 1p21.2 1p21.2 610182 PALMD, PALML Palmdelphin PALMD 54873 ENSG00000099260 Palmd (MGI:2148896)
chr1 99708698 99766629 1p21.2 1p21.2 611578 FRRS1, SDR2 Ferric chelate reductase 1 FRRS1 391059 ENSG00000156869 Frrs1 (MGI:108076)
chr1 99850076 99924022 1p21 1p21.2 610860 AGL, GDE Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme) AGL 178 ENSG00000162688 Glycogen storage disease IIIa, 232400 (3), Autosomal recessive; Glycogen storage disease IIIb, 232400 (3), Autosomal recessive Agl (MGI:1924809)
chr1 99968400 100026978 1p21 1p21.2 605632 SLC35A3, AMRS Solute carrier family 35 (UDP-GlcNAc transporter), member 3 SLC35A3 23443 ENSG00000117620 mutation identified in 1 family ?Arthrogryposis, mental retardation, and seizures, 615553 (3), Autosomal recessive Slc35a3 (MGI:1917648)
chr1 100082631 100133094 1p21.2 1p21.2 609321 SASS6, SAS6, MCPH14 SAS-6 centriolar assembly protein SASS6 163786 ENSG00000156876 mutation identified in 1 MCPH14 family ?Microcephaly 14, primary, autosomal recessive, 616402 (3), Autosomal recessive Sass6 (MGI:1920026)
chr1 100186921 100249863 1p31 1p21.2 248610 DBT, BCATE2 Dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex) DBT 1629 ENSG00000137992 pseudogene on 3q24 Maple syrup urine disease, type II, 248600 (3), Autosomal recessive Dbt (MGI:105386)
chr1 100266157 100292768 1p21.2 1p21.2 611286 RTCD1, RPC RNA terminal phosphate cyclase domain-containing protein 1 RTCA 8634 ENSG00000137996 Rtca (MGI:1913618)
chr1 100345000 100520280 1p21 1p21.2 603504 CDC14A, DFNB105 Cell division cycle 14, S. cerevisiae, homolog A CDC14A 8556 ENSG00000079335 Deafness, autosomal recessive 105, 616958 (3), Autosomal recessive Cdc14a (MGI:2442676)
chr1 100538171 100542026 1p21.2 1p21.2 607468 GPR88, STRG, COCPMR G protein-coupled receptor 88 GPR88 54112 ENSG00000181656 mutation identified in 1 COCPMR family ?Chorea, childhood-onset, with psychomotor retardation, 616939 (3), Autosomal recessive Gpr88 (MGI:1927653)
chr1 100719639 100739044 1p32-p31 1p21.2 192225 VCAM1 Vascular cell adhesion molecule-1 VCAM1 7412 ENSG00000162692 Vcam1 (MGI:98926)
chr1 100872371 100895410 1p12-p11 1p21.2 602411 EXTL2 Exostosin-like 2 EXTL2 2135 ENSG00000162694 Extl2 (MGI:1889574)
chr1 100896075 100996912 1p21.2 1p21.2 611149 SLC30A7, ZNT7 Solute carrier family 30 (zinc transporter), member 7 SLC30A7 148867 ENSG00000162695 Slc30a7 (MGI:1913750)
chr1 100975217 101025805 1p21.2 1p21.2 611075 DPH5, HSPC143 DPH5, S. crevisiae, homolog of DPH5 51611 ENSG00000117543 Dph5 (MGI:1916990)
chr1 101236748 101241519 1p21 1p21.2 601974 S1PR1, EDG1, S1P1 Sphingosine-1-phosphate receptor 1 S1PR1 1901 ENSG00000170989 S1pr1 (MGI:1096355)
chr1 101800000 155100000 1p21.1-q21.3 612841 HYPT5, MUHH2 Hypotrichosis 5 100302560 max lod at D1S2881 Hypotrichosis 5, 612841 (2), Autosomal dominant
chr1 101800000 111200000 1p21.1-p13.3 611107 MRT4 Mental retardation, autosomal recessive, 4 MRT4 100009675 between D2S429 and D1S187 Mental retardation, autosomal recessive, 4, 611107 (2), Autosomal recessive
chr1 101800027 101997233 1p21 1p21.1 607567 OLFM3, NOE3 Olfactomedin 3 OLFM3 118427 ENSG00000118733 Olfm3 (MGI:2387329)
chr1 102876466 103108579 1p21 1p21.1 120280 COL11A1, STL2 Collagen XI, alpha-1 polypeptide COL11A1 1301 ENSG00000060718 Fibrochondrogenesis 1, 228520 (3), Autosomal recessive; {Lumbar disc herniation, susceptibility to}, 603932 (3); Marshall syndrome, 154780 (3), Autosomal dominant; Stickler syndrome, type II, 604841 (3), Autosomal dominant Col11a1 (MGI:88446)
chr1 103554643 103579533 1p21 1p21.1 104660 AMY2B Amylase, pancreatic, alpha-2B AMY2B 280 ENSG00000240038 distal to NGFB Amy2a2,Amy2a3,Amy2a4,Amy2a5 (MGI:3711220,MGI:3714985,MGI:3711258,MGI:88020)
chr1 103617331 103625779 1p21 1p21.1 104650 AMY2A Amylase, pancreatic, alpha-2A AMY2A 279 ENSG00000243480 Amy1 (MGI:88019)
chr1 103655518 103664550 1p21 1p21.1 104700 AMY1A Amylase, salivary, alpha-1A AMY1A 276 ENSG00000237763 multiple amylase genes
chr1 103687414 103696451 1p21 1p21.1 104701 AMY1B Amylase, salivary, alpha-1B AMY1B 277 ENSG00000174876
chr1 103745429 103758691 1p21 1p21.1 104702 AMY1C Amylase, salivary, alpha-1C AMY1C 278 ENSG00000174876
chr1 106700000 111200000 1p13.3 118943 CYMP Chymosin pseudogene CYMP 643160
chr1 106700000 117200000 1p13 193000 VUR Vesicoureteral reflux 54113 Vesicoureteral reflux, 193000 (2), Autosomal dominant
chr1 107056644 107059293 1p13.3 1p13.3 608274 PRMT6 Protein arginine N-methyltransferase 6 PRMT6 55170 ENSG00000198890 Prmt6 (MGI:2139971)
chr1 107139917 107484898 1p13.3 1p13.3 608818 NTNG1, LMNT1, KIAA0976 Netrin G1 NTNG1 22854 ENSG00000162631 Ntng1 (MGI:1934028)
chr1 107571159 107964922 1p13.3 1p13.3 605541 VAV3 Vav3 oncogene VAV3 10451 ENSG00000134215 Vav3 (MGI:1888518)
chr1 108134721 108200357 1p36.13 1p13.3 608744 SLC25A24, SCAMC1 Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24 SLC25A24 29957 ENSG00000085491 Fontaine progeroid syndrome, 612289 (3), Autosomal dominant Slc25a24 (MGI:1917160)
chr1 108222463 108244080 1p12 1p13.3 613994 NBPF4 Neuroblastoma breakpoint family, member 4 NBPF4 148545 ENSG00000196427
chr1 108375970 108383613 1p12 1p13.3 613995 NBPF5 Neuroblastoma breakpoint family, member 5 NBPF5P 100507044
chr1 108421495 108471902 1p12 1p13.3 613996 NBPF6 Neuroblastoma breakpoint family, member 6 NBPF6 653149 ENSG00000186086
chr1 108648287 108661525 1p13.3 1p13.3 612178 HENMT1, C1orf59, HEN1 Hen1 methyltransferase, arabidopsis, homolog of HENMT1 113802 ENSG00000162639 Henmt1 (MGI:1913965)
chr1 108875349 108934334 1p13.1 1p13.3 609245 GPSM2, LGN, PINS, DFNB82, CMCS G protein signaling modulator 2 GPSM2 29899 ENSG00000121957 Chudley-McCullough syndrome, 604213 (3), Autosomal recessive Gpsm2 (MGI:1923373)
chr1 108929507 108963498 1p13.3 1p13.3 617539 CLCC1, MCLC Chloride channel CLIC-like 1 CLCC1 23155 ENSG00000121940 Clcc1 (MGI:2385186)
chr1 108970210 109042227 1p13.3 1p13.3 615734 WDR47, NEMITIN, KIAA0893 WD repeat-containing protein 47 WDR47 22911 ENSG00000085433 Wdr47 (MGI:2139593)
chr1 109064375 109076001 1p13.3 1p13.3 600774 TAF13, TAF2K, MRT60 TAF13 RNA polymerase II, TATA box-binding protein-associated factor, 18kD TAF13 6884 ENSG00000197780 Mental retardation, autosomal recessive 60, 617432 (3), Autosomal recessive Taf13 (MGI:1913500)
chr1 109113962 109206780 1p13.3 1p13.3 611298 KIAA1324, EIG121 KIAA1324 gene KIAA1324 57535 5330417C22Rik (MGI:1923930)
chr1 109213892 109238181 1p13 1p13.3 607529 SARS, SERS, NEDMAS Seryl-tRNA synthetase SARS 6301 ENSG00000031698 mutation identified in 1 NEDMAS family ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, 617709 (3), Autosomal recessive Sars (MGI:102809)
chr1 109250018 109275755 1p21 1p13.3 604265 CELSR2, EGFL2, MEGF3 Cadherin EGF LAG seven-pass G-type receptor 3 (epidermal growth factor-like 2) CELSR2 1952 ENSG00000143126 Celsr2 (MGI:1858235)
chr1 109279553 109283171 1p13.1 1p13.3 613126 PSRC1, DDA3 Proline/serine-rich coiled-coil protein 1 PSRC1 84722 ENSG00000134222 Psrc1 (MGI:1913099)
chr1 109309564 109397944 1p13.3 1p13.3 602458 SORT1, NT3, LDLCQ6 Sortilin SORT1 6272 ENSG00000134243 [Low density lipoprotein cholesterol level QTL6], 613589 (3), Autosomal dominant Sort1 (MGI:1338015)
chr1 109399030 109426485 1p13 1p13.3 176844 PSMA5, PSC5 Proteasome component 5 PSMA5 5686 ENSG00000143106 Psma5 (MGI:1347009)
chr1 109504174 109509750 1p13.3 1p13.3 615689 AMIGO1, ALI2, KIAA1163 Adhesion molecule with Ig-like domain 1 AMIGO1 57463 ENSG00000181754 Amigo1 (MGI:2653612)
chr1 109539871 109545832 1p13.3 1p13.3 606916 GPR61 G protein-coupled receptor 61 GPR61 83873 ENSG00000156097 Gpr61 (MGI:2441719)
chr1 109548563 109595842 1p13 1p13.3 139370 GNAI3, ARCND1 Guanine nucleotide-binding protein (G-protein), alpha-inhibiting activity polypeptide-3 GNAI3 2773 ENSG00000065135 Auriculocondylar syndrome 1, 602483 (3), Autosomal dominant Gnai3 (MGI:95773)
chr1 109598892 109598966 1p13.3 1p13.3 611189 MIR197 Micro rNA 197 MIR197 406974
chr1 109603090 109619732 1p13 1p13.3 139340 GNAT2, ACHM4 Guanine nucleotide-binding protein (G-protein), alpha-transducing (transducin) activity polypeptide-2 GNAT2 2780 ENSG00000134183 Achromatopsia 4, 613856 (3) Gnat2 (MGI:95779)
chr1 109619812 109632054 1p13.3 1p13.3 102771 AMPD2, SPG63, PCH9 Adenosine monophosphate deaminase-2, isoform L AMPD2 271 ENSG00000116337 mutation identified in 1 SPG63 family Pontocerebellar hypoplasia, type 9, 615809 (3), Autosomal recessive; ?Spastic paraplegia 63, 615686 (3), Autosomal recessive Ampd2 (MGI:88016)
chr1 109656075 109665500 1p13.3 1p13.3 138333 GSTM4 Glutathione S-transferase M4 GSTM4 2948 ENSG00000168765 Gstm4 (MGI:95862)
chr1 109668021 109683996 1p13.3 1p13.3 138380 GSTM2, GST4 Glutathione S-transferase M2, muscle GSTM2 2946 ENSG00000213366 Gstm7 (MGI:1915562)
chr1 109687795 109693744 1p13.3 1p13.3 138350 GSTM1 Glutathione S-transferase M1 GSTM1 2944 ENSG00000134184 Gstm2 (MGI:95861)
chr1 109711750 109718267 1p13.3 1p13.3 138385 GSTM5 Glutathione S-transferase M5 GSTM5 2949 ENSG00000134201 pseudogene on chr.3 Gstm1 (MGI:95860)
chr1 109733931 109741037 1p13.3 1p13.3 138390 GSTM3, GST5 Glutathione S-transferase M3, brain GSTM3 2947 ENSG00000134202 Gstm5 (MGI:1309466)
chr1 109750079 109764021 1p13.3 1p13.3 614989 EPS8L3, EPS8R3 EPS8-like protein 3 EPS8L3 79574 ENSG00000198758 Eps8l3 (MGI:2139743)
chr1 109910505 109930993 1p21-p13 1p13.3 120420 CSF1, MCSF Colony-stimulating factor-1 (macrophage) CSF1 1435 ENSG00000184371 incorrectly assigned to chr.5 Csf1 (MGI:1339753)
chr1 109984764 110023741 1p13.3 1p13.3 607826 AHCYL1, DCAL, IRBIT Adenosylhomocysteine-like 1 AHCYL1 10768 ENSG00000168710 Ahcyl1 (MGI:2385184)
chr1 110031576 110054640 1p13.3 1p13.3 617918 STRIP1, FAR11A, FAM40A Striatin-interacting protein 1 STRIP1 85369 ENSG00000143093 Strip1 (MGI:2443884)
chr1 110060374 110070699 1p21-p13 1p13.3 606014 ALX3, FND1 Aristaless-like homeobox 3 ALX3 257 ENSG00000156150 Frontonasal dysplasia 1, 136760 (3), Autosomal recessive Alx3 (MGI:1277097)
chr1 110112439 110113946 1p13.3 1p13.3 611127 UBL4B Ubiquitin-like 4B UBL4B 164153 ENSG00000186150 Ubl4b (MGI:1914841)
chr1 110150513 110202201 1p13.3 1p13.3 610299 SLC6A17, NTT4, MRT48 Solute carrier family 6 (neurotransmitter transporter), member 17 SLC6A17 388662 ENSG00000197106 Mental retardation, autosomal recessive 48, 616269 (3), Autosomal recessive Slc6a17 (MGI:2442535)
chr1 110210713 110282648 1p13.3 1p13.3 176265 KCNC4 Potassium voltage-gated channel, Shaw-related subfamily, member 4 KCNC4 3749 ENSG00000116396 Kcnc4 (MGI:96670)
chr1 110338928 110373004 1p13 1p13.3 606077 RBM15, SPEN, OTT One-twenty two protein (RNA binding motif protein 15; Spen, Drosophila, homolog of) RBM15 64783 ENSG00000162775 Megakaryoblastic leukemia, acute, 606077 (2) Rbm15 (MGI:2443205)
chr1 110401252 110407923 1p13.2 1p13.3 608521 LAMTOR5, HBXIP, XIP Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 5 LAMTOR5 10542 ENSG00000134248 Lamtor5 (MGI:1915826)
chr1 110451165 110457353 1p21 1p13.3 606233 PROK1, PK1, PRK1, EGVEGF Prokineticin 1 PROK1 84432 ENSG00000143125 Prok1 (MGI:2180370)
chr1 110517216 110519174 1p13.1 1p13.3 602420 KCNA10 Potassium voltage-gated channel, shaker-related subfamily, member 10 KCNA10 3744 ENSG00000143105 Kcna10 (MGI:3037820)
chr1 110593579 110631535 1p13.3 1p13.3 176262 KCNA2, EIEE32 Potassium channel, voltage-gated, Shaker-related subfamily, member 2 KCNA2 3737 ENSG00000177301 Epileptic encephalopathy, early infantile, 32, 616366 (3), Autosomal dominant Kcna2 (MGI:96659)
chr1 110653559 110675032 1p21-p13.3 1p13.3 176263 KCNA3 Potassium voltage-gated channel, shaker-related subfamily, member 3 KCNA3 3738 ENSG00000177272 mapped probably in error to chr.13 Kcna3 (MGI:96660)
chr1 110871166 110899935 1p21-p13.3 1p13.3 151525 CD53, MOX44 CD53 antigen CD53 963 ENSG00000143119 Cd53 (MGI:88341)
chr1 110877251 110963961 1p12 1p13.3 615354 LRIF1, RIF1 Ligand-dependent nuclear receptor-interacting factor 1 LRIF1 55791 ENSG00000121931 Lrif1 (MGI:2445214)
chr1 111117169 111140215 1p13.3 1p13.3 613360 DRAM2, TMEM77, CORD21 Damage-regulated autophagy modulator 2 DRAM2 128338 ENSG00000156171 Cone-rod dystrophy 21, 616502 (3), Autosomal recessive Dram2 (MGI:1914421)
chr1 111139382 111185103 1p13.3 1p13.3 616751 CEPT1 Choline/ethanolamine phosphotransferase 1 CEPT1 10390 ENSG00000134255 Cept1 (MGI:2139793)
chr1 111185968 111204790 1p13.3 1p13.3-p13.2 615111 DENND2D DENN/MADD domain-containing protein 2D DENND2D 79961 ENSG00000162777 Dennd2d (MGI:2181193)
chr1 111200000 115500000 1p13.2 617386 NR1H5P, FXRB Nuclear receptor subfamily 1, group H, member 5, pseudogene NR1H5P 643609
chr1 111227079 111243439 1p13.3 1p13.2 601526 CHI3L2, YKL39 Chitinase 3-like 2 CHI3L2 1117 ENSG00000064886
chr1 111290851 111320565 1p21.3-p13.1 1p13.2 606080 CHIA, TSA1902, CHIT2 Chitinase, acidic CHIA 27159 ENSG00000134216 Chia1 (MGI:1932052)
chr1 111324662 111353016 1p13.2 1p13.2 614234 C1orf88, PIFO Chromosome 1 open reading frame 88 (pitchfork, mouse, homolog of) PIFO 128344 ENSG00000173947 Pifo (MGI:1923670)
chr1 111414314 111427776 1p13.2 1p13.2 603578 OVGP1 Oviductal glycoprotein 1 OVGP1 5016 ENSG00000085465 Ovgp1 (MGI:106661)
chr1 111439889 111449307 1p13.2 1p13.2 611734 WDR77, MEP50 WD repeat-containing protein 77 WDR77 79084 ENSG00000116455 Wdr77 (MGI:1917715)
chr1 111449120 111461917 1p13.2 1p13.2 603270 ATP5F1 ATP synthase, H+ transporting, mitochondrial FO complex, subunit B, isoform 1 ATP5PB 515 ENSG00000116459 Atp5f1 (MGI:1100495)
chr1 111499428 111504120 1p21-p13 1p13.2 600445 ADORA3 Adenosine A3 receptor ADORA3 140 ENSG00000282608 Adora3 (MGI:104847)
chr1 111542222 111716694 1p13.3 1p13.2 179520 RAP1A, KREV1 RAS-related protein RAP1A RAP1A 5906 ENSG00000116473 pseudogene on 14q24.3 Rap1a (MGI:97852)
chr1 111755567 111767576 1p21.1-p13.2 1p13.2 606168 DDX20 DEAD/H box 20 DDX20 11218 ENSG00000064703 Ddx20 (MGI:1858415)
chr1 111770661 111989576 1p13.3-p13.2 1p13.2 605411 KCND3, KCND3S, KCND3L, SCA19, SCA22, BRGDA9 Potassium voltage-gated channel, Shal-related subfamily, member 3 KCND3 3752 ENSG00000171385 Brugada syndrome 9, 616399 (3), Autosomal dominant; Spinocerebellar ataxia 19, 607346 (3), Autosomal dominant Kcnd3 (MGI:1928743)
chr1 112391084 112461163 1p13.2 1p13.2 615100 CTTNBP2NL CTTNBP2 N terminus-like protein CTTNBP2NL 55917 ENSG00000143079 Cttnbp2nl (MGI:1933137)
chr1 112466540 112521287 1p13 1p13.2 601968 WNT13, XWNT2 Wingless-type MMTV integration site family, member 13 WNT2B 7482 ENSG00000134245 Wnt2b (MGI:1261834)
chr1 112517443 112619880 1p13 1p13.2 617640 ST7L, ST7R Suppressor of tumorigenicity 7-like protein ST7L 54879 ENSG00000007341 St7l (MGI:2386964)
chr1 112619452 112671618 1p13.2 1p13.2 601580 CAPZA1, CAPPA1 Capping protein, muscle Z-line, alpha-1 CAPZA1 829 ENSG00000116489 Capza1 (MGI:106227)
chr1 112674311 112702376 1p13.2 1p13.2 610742 MOV10, KIAA1631 Moloney leukemia virus 10, mouse, homolog of MOV10 4343 ENSG00000155363 Mov10 (MGI:97054)
chr1 112701126 112707402 1p13.2 1p13.2 165380 RHOC, ARHC, ARH9, RHOH9 RAS homolog gene family, member C (oncogene RHO H9) RHOC 389 ENSG00000155366 incorrectly assigned to chr.5 Rhoc (MGI:106028)
chr1 112709993 112715327 1p13.2 1p13.2 609957 PPM1J, PP2CZ, PPP2CZ Protein phosphatase, magnesium-dependent, 1J PPM1J 333926 ENSG00000155367 Ppm1j (MGI:1919137)
chr1 112718960 112727234 1p13.2 1p13.2 617497 FAM19A3, TAFA3 Family with sequence similarity 19, member A3, CC motif chemokine-like FAM19A3 284467 ENSG00000184599 Fam19a3 (MGI:3046463)
chr1 112911846 112956352 1p13.2-p12 1p13.2 600682 SLC16A1, MCT1, HHF7, MCT1D Solute carrier family 16 (monocarboxylic acid transporters), member 1 SLC16A1 6566 ENSG00000155380 Erythrocyte lactate transporter defect, 245340 (3), Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3), Autosomal dominant; Monocarboxylate transporter 1 deficiency, 616095 (3), Autosomal recessive, Autosomal dominant Slc16a1 (MGI:106013)
chr1 113073169 113132259 1p13 1p13.2 608869 LRIG2, LIG2, KIAA0806, UFS2 Leucine-rich repeats- and immunoglobulin-like domains-containing protein 2 LRIG2 9860 ENSG00000198799 Urofacial syndrome 2, 615112 (3), Autosomal recessive Lrig2 (MGI:2443718)
chr1 113390473 113685922 1p21 1p13.2 615943 MAGI3, KIAA1634 Membrane-associated guanylate kinase, WW and PDZ domains-containing, 3 MAGI3 260425 ENSG00000081026 Magi3 (MGI:1923484)
chr1 113697201 113759887 1p13 1p13.2 604950 PHTF1 Putative homeodomain transcription factor 1 PHTF1 10745 ENSG00000116793 Phtf1 (MGI:1332671)
chr1 113761831 113812536 1p13.2 1p13.2 615858 RSBN1, ROSBIN Round spermatid basic protein 1 RSBN1 54665 ENSG00000081019 Rsbn1 (MGI:2444993)
chr1 113813810 113871760 1p13 1p13.2 600716 PTPN22, PEP, PTPN8, LYP Protein tyrosine phosphatase, nonreceptor-type 22 PTPN22 26191 ENSG00000134242 {Diabetes, type 1, susceptibility to}, 222100 (3), Autosomal recessive; {Rheumatoid arthritis, susceptibility to}, 180300 (3); {Systemic lupus erythematosus susceptibility to}, 152700 (3), Autosomal dominant Ptpn22 (MGI:107170)
chr1 113894193 113905123 1p13.2 1p13.2 607245 AP4B1, SPG47, CPSQ5 Adaptor-related protein complex 4, beta-1 subunit AP4B1 10717 ENSG00000134262 Spastic paraplegia 47, autosomal recessive, 614066 (3), Autosomal recessive Ap4b1 (MGI:1337130)
chr1 113904618 113914085 1p13.3-p13.1 1p13.2 609683 DCLRE1B, SNM1B, APOLLO DNA cross-link repair protein 1B DCLRE1B 64858 ENSG00000118655 Dclre1b (MGI:2156057)
chr1 113979390 113982253 1p13.1 1p13.2 610088 OLFML3, OLF44 Olfactomedin-like 3 OLFML3 56944 ENSG00000116774 Olfml3 (MGI:1914877)
chr1 114089291 114153918 1p13.2 1p13.2 607718 SYT6 Synaptotagmin 6 SYT6 148281 ENSG00000134207 Syt6 (MGI:1859544)
chr1 114392776 114511191 1p13 1p13.2 605769 TRIM33, TIF1G, RFG7, PTC7 Tripartite motif-containing protein 33 TRIM33 51592 ENSG00000197323 fused with RET to form PTC7 Trim33 (MGI:2137357)
chr1 114567556 114581643 1p21-p13.3 1p13.2 605783 BCAS2, DAM1 Breast carcinoma amplified sequence 2 BCAS2 10286 ENSG00000116752 Bcas2 (MGI:1915433)
chr1 114673097 114695617 1p21-p13 1p13.2 102770 AMPD1, MMDD Adenosine monophosphate deaminase-1, muscle AMPD1 270 ENSG00000116748 Myopathy due to myoadenylate deaminase deficiency, 615511 (3), Autosomal recessive Ampd1 (MGI:88015)
chr1 114704463 114716893 1p13.2 1p13.2 164790 NRAS, ALPS4, NS6, CMNS, NCMS Neuroblastoma RAS viral (v-ras) oncogene homolog NRAS 4893 ENSG00000213281 cen-CD2-NGFB-NRAS Colorectal cancer, somatic, 114500 (3); Epidermal nevus, somatic, 162900 (3); Melanocytic nevus syndrome, congenital, somatic, 137550 (3); Neurocutaneous melanosis, somatic, 249400 (3); Noonan syndrome 6, 613224 (3), Autosomal dominant; ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, 614470 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); Thyroid carcinoma, follicular, somatic, 188470 (3) Nras (MGI:97376)
chr1 114716912 114758049 1p22 1p13.2 191510 CSDE1, D1S155E, UNR Cold-shock domain-containing E1, RNA-binding CSDE1 7812 ENSG00000009307 130bp 5' to NRAS Csde1 (MGI:92356)
chr1 114769478 114780686 1p13.2 1p13.2 611656 SIKE Suppressor of IKK-epsilon SIKE1 80143 ENSG00000052723 Sike1 (MGI:1913891)
chr1 114854267 114995369 1p13 1p13.2 602162 SYCP1, SCP1 Synaptonemal complex protein-1 SYCP1 6847 ENSG00000198765 Sycp1 (MGI:105931)
chr1 115029823 115035934 1p13 1p13.2 188540 TSHB, CHNG4 Thyroid-stimulating hormone, beta polypeptide TSHB 7252 ENSG00000134200 centromeric to NGFB Hypothyroidism, congenital, nongoitrous 4, 275100 (3), Autosomal recessive Tshb (MGI:98848)
chr1 115048010 115089500 1p13.2 1p13.2 613133 TSPAN2, NET3 Tetraspanin 2 TSPAN2 10100 ENSG00000134198 Tspan2 (MGI:1917997)
chr1 115285914 115338252 1p13.1 1p13.2 162030 NGF, NGFB, HSAN5 Nerve growth factor, beta NGF 4803 ENSG00000134259 same 310kb fragment as TSHB; order: cen-CD2-CD58-ATP1A1-NGF-TSHB-NRAS-tel Neuropathy, hereditary sensory and autonomic, type V, 608654 (3), Autosomal recessive Ngf (MGI:97321)
chr1 115641952 115698223 1p13 1p13.1 610132 VANGL1, STBM2 Vang-like 1 VANGL1 81839 ENSG00000173218 Caudal regression syndrome, 600145 (3), Autosomal dominant; {Neural tube defects, susceptibility to}, 182940 (3), Autosomal dominant Vangl1 (MGI:2159344)
chr1 115700002 115768804 1p13.3-p11 1p13.1 114251 CASQ2 Calsequestrin, fast-twitch, skeletal muscle-2 CASQ2 845 ENSG00000118729 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3), Autosomal recessive Casq2 (MGI:1309469)
chr1 115830776 115841125 1p12-p11 1p13.1 162361 NHLH2, HEN2 Nescient helix loop helix 2 NHLH2 4808 ENSG00000177551 Nhlh2 (MGI:97324)
chr1 115976497 116070053 1p13.1 1p13.1 608275 SLC22A15, FLIPT1 Solute carrier family 22 (organic cation transporter), member 15 SLC22A15 55356 ENSG00000163393 Slc22a15 (MGI:3607704)
chr1 116372985 116410258 1p13-p11 1p13.1 182310 ATP1A1 ATPase, Na+K+ transporting, alpha-1 polypeptide ATP1A1 476 ENSG00000163399 Atp1a1 (MGI:88105)
chr1 116500389 116571092 1p13 1p13.1 153420 CD58, LFA3 CD58 antigen (lymphocyte function-associated antigen 3) CD58 965 ENSG00000116815 ?same as MSK1; gene cloned
chr1 116574397 116667754 1p13 1p13.1 603491 IGSF3, LCDD Immunoglobulin superfamily, member 3 IGSF3 3321 ENSG00000143061 mutation identified in 1 LCDD family ?Lacrimal duct defect, 149700 (3), Autosomal recessive Igsf3 (MGI:1926158)
chr1 116754429 116769228 1p13.1 1p13.1 186990 CD2 CD2 antigen (p50), sheep red blood cell receptor CD2 914 ENSG00000116824 Cd2 (MGI:88320)
chr1 116909922 116990357 1p13.1-q21.3 1p13.1 601204 PTGFRN, FPRP Prostaglandin F2 receptor negative regulator PTGFRN 5738 ENSG00000134247 Ptgfrn (MGI:1277114)
chr1 117060302 117107452 1p13.1 1p13.1 604718 TTF2 Transcription termination factor, RNA polymerase II TTF2 8458 ENSG00000116830 Ttf2 (MGI:1921294)
chr1 117107710 117121788 1p22 1p13.1 609318 TRIM45 Tripartite motif-containing protein 45 TRIM45 80263 ENSG00000134253 Trim45 (MGI:1918187)
chr1 117143586 117210984 1p13.1 1p13-p12 608162 VCTN1, B7H4, B7X, B7S1 V-set domain containing T cell activation inhibitor 1 VTCN1 79679 ENSG00000134258 Vtcn1 (MGI:3039619)
chr1 117367392 117528871 1p13 1p12 604345 MAN1A2 Mannosidase, alpha, class 1A, member 2 MAN1A2 10905 ENSG00000198162 Man1a2 (MGI:104676)
chr1 117605981 117628388 1p12 1p12 613952 FAM46C Family with sequence similarity 46, member C FAM46C 54855 ENSG00000183508 Fam46c (MGI:1921895)
chr1 117929748 117960425 1p13-p12 1p12 604737 WDR3 WD repeat-containing protein 3 WDR3 10885 ENSG00000065183 Wdr3 (MGI:2443143)
chr1 117953594 118185268 1p12 1p12 616554 SPAG17, PF6 Sperm-associated antigen 17 SPAG17 200162 ENSG00000155761 Spag17 (MGI:1921612)
chr1 118883042 118989555 1p13 1p12 604127 TBX15 T-box 15 TBX15 6913 ENSG00000092607 Cousin syndrome, 260660 (3), Autosomal recessive Tbx15 (MGI:1277234)
chr1 119031215 119140787 1p13.3-p13.1 1p12 604733 WARS2, NEMMLAS Tryptophanyl-tRNA synthetase 2 WARS2 10352 ENSG00000116874 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive Wars2 (MGI:1917810)
chr1 119361912 119394129 1p13 1p12 605176 HAO2, HAOX2 Hydroxyacid oxidase 2 HAO2 51179 ENSG00000116882 Hao2 (MGI:96012)
chr1 119414930 119423038 1p13.1 1p12 613890 HSD3B2 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase, type 2 (adrenal, gonadal) HSD3B2 3284 ENSG00000203859 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3), Autosomal recessive Hsd3b1 (MGI:96233)
chr1 119507202 119515057 1p13.1 1p12 109715 HSD3B1 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase, type 1 (placental, peripheral) HSD3B1 3283 ENSG00000203857 Hsd3b6,Hsd3b3,Hsd3b2 (MGI:109598,MGI:96235,MGI:96234)
chr1 119711795 119744225 1p12 1p12 606879 PHGDH, NLS1, PHGDHD Phosphoglycerate dehydrogenase PHGDH 26227 ENSG00000092621 Neu-Laxova syndrome 1, 256520 (3), Autosomal recessive; Phosphoglycerate dehydrogenase deficiency, 601815 (3), Autosomal recessive Phgdh (MGI:1355330)
chr1 119747995 119768931 1p13-p12 1p12 600234 HMGCS2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2, mitochondrial HMGCS2 3158 ENSG00000134240 HMG-CoA synthase-2 deficiency, 605911 (3), Autosomal recessive Hmgcs2 (MGI:101939)
chr1 119794017 119811579 1p13.1-p12 1p12 609846 REG4 Regenerating islet-derived family, member 4 REG4 83998 ENSG00000134193 Reg4 (MGI:1914959)
chr1 119833729 119844879 1p12 1p12 613997 NBPF7 Neuroblastoma breakpoint family, member 7 NBPF7 343505
chr1 119893532 119896523 1p13-p11 1p12 604779 ADAM30 A disintegrin and metalloproteinase domain 30 ADAM30 11085 ENSG00000134249 Adam30 (MGI:1918328)
chr1 119911552 120069702 1p13-p11 1p12 600275 NOTCH2, AGS2, HJCYS Notch, Drosophila, homolog of, 2 NOTCH2 4853 ENSG00000134250 Alagille syndrome 2, 610205 (3), Autosomal dominant; Hajdu-Cheney syndrome, 102500 (3), Autosomal dominant Notch2 (MGI:97364)
chr1 120155941 120176520 1q21.2-q21.3 1p12 604029 SEC22L1, SEC22B Secretion deficient 22, S. Cerevisiae, homolog-like 1 SEC22B 9554 ENSG00000265808 Sec22b (MGI:1338759)
chr1 120400000 123400000 1p11 606190 MNRI Meningioma, radiation-induced 117192 Meningioma, radiation-induced, 606190 (2)
chr1 120415026 120469669 1q21.1 1p11.2 613998 NBPF8 Neuroblastoma breakpoint family, member 8 NBPF8 728841
chr1 120432203 120434108 1q21.1 1p11.2 608609 C1orf152, COAS3 Chromosome 1 open reading frame 152 PFN1P2 767846
chr1 121087344 121097160 1p12 1p11.2 601502 FCGR1B Fc fragment of IgG, high affinity Ib, receptor for (CD64) FCGR1B 2210 ENSG00000198019
chr1 121167645 121186895 1p11 1p11.2 614711 FAM72B Family with sequence similarity 72, member B FAM72B 653820 ENSG00000188610
chr1 121184966 121392873 1p12 1p11.2 614704 SRGAP2C SLIT-ROBO Rho GTPase-activating protein 2C SRGAP2C 653464 ENSG00000171943
chr1 123400000 248956422 1q 151628 LRE2 LINE retrotransposable element-2 inserted in DMD gene
chr1 125100000 173000000 1q12-q24 605549 CORD8 Cone-rod dystrophy 8 CORD8 54109 Cone-rod dystrophy 8, 605549 (2), Autosomal recessive
chr1 125100000 155100000 1q12-q21.3 612875 GNRHR2 Gonadotropin-releasing hormone receptor 2 GNRHR2 114814 ?processed pseudogene
chr1 125100000 156600000 1q12-q22 189890 TRNL tRNA asparagine-like
chr1 143200000 155100000 1q21 611152 AD13 Alzheimer disease-13 100188837 max lod D1S498 {Alzheimer disease-13}, 611152 (2)
chr1 143200000 156600000 1q21-q22 608781 ASPG3 Asperger syndrome, susceptibility to, 3 449015 max lod at D1S484 {Asperger syndrome susceptibility 3}, 608781 (2)
chr1 143200000 165500000 1q21-q23 605833 BMND2 Bone mineral density QTL 2 338027 [Bone mineral density QTL 2], 605833 (2)
chr1 143200000 147500000 1q21.1 612474 DEL1q21, C1DELq21 Chromosome 1q21.1 deletion syndrome contiguous gene deletion syndrome Chromosome 1q21.1 deletion syndrome, 612474 (4), Autosomal dominant, Isolated cases
chr1 143200000 165500000 1q21-q23 608372 DFNA49 Deafness, autosomal dominant 49 DFNA49 317664 max lod at D1S3784 and D1S3786 Deafness, autosomal dominant 49, 608372 (2), Autosomal dominant
chr1 143200000 165500000 1q21-q23 601412 DFNA7 Deafness, autosomal dominant 7 DFNA7 1689 Deafness, autosomal dominant 7, 601412 (2), Autosomal dominant
chr1 143200000 147500000 1q21.1 612475 DUP1q21, C1DUPq21 Chromosome 1q21.1 duplication syndrome contiguous gene duplication syndrome Chromosome 1q21.1 duplication syndrome, 612475 (4), Autosomal dominant, Isolated cases
chr1 143200000 165500000 1q21-q23 614013 ERVK-7, HERV-KIII, HERV-K102 Endogenous retrovirus group K, member 7 ERVK-7 449619
chr1 143200000 147500000 1q21.1 613017 NBLST6 Neuroblastoma, susceptibility to, 6 100306939 ?contiguous gene deletion or duplication disease {Neuroblastoma, susceptibility to, 6}, 613017 (2)
chr1 143200000 147500000 1q21.1 612970 NBPF17P, NBPF23 Neuroblastoma breakpoint family, member 17, pseudogene NBPF17P 401967
chr1 143200000 155100000 1q21 603935 PSORS4 Psoriasis susceptibility 4 PSORS4 10547 {Psoriasis susceptibility 4}, 603935 (2)
chr1 143200000 155100000 1q21 605642 PTCPRN, PRN1 Papillary thyroid carcinoma with papillary renal neoplasia 79052 Thyroid carcinoma, papillary, with papillary renal neoplasia, 605642 (2)
chr1 143200000 155100000 1q21 161900 RFH1, AORF Renal failure, progressive, with hypertension 59331 Nephropathy-hypertension, 161900 (2), Autosomal dominant
chr1 143200000 165500000 1q21-q23 613145 SLEB14 Systemic lupus erythematosus, susceptibility to, 14 100322878 associated with rs3093061 {Systemic lupus erythematosus, susceptibility to, 14}, 613145 (2)
chr1 143200000 156600000 1q21-q22 182269 SPRR2C Small proline-rich protein 2C SPRR2C 6702 prob. pseudogene
chr1 143200000 147500000 1q21.1 614747 UAQTL6 Uric acid concentration, serum, quantitative trait locus 6 100996935 associated with C/T variant at chr1_142697422 [Uric acid concentration, serum, QTL6], 614747 (2)
chr1 143874742 143883732 1q21 1q21.1 601503 FCGR1C Fc fragment of IgG, high affinity Ic, receptor for (CD64) FCGR1CP 100132417
chr1 143955363 143973518 1q21.2 1q21.1 616853 FAM72C Family with sequence similarity 72, member C FAM72C 554282 ENSG00000263513
chr1 143972638 144069703 1q21.1 1q21.1 614705 SRGAP2D SLIT-ROBO Rho GTPase-activating protein 2D SRGAP2D 100996712
chr1 144372874 144373658 1q21.1 1q21.1 608608 PPIAL4A, COAS2 Peptidylprolyl isomerase A (cyclophilin A)-like 4A PPIAL4E 730262 ENSG00000271567
chr1 144421385 144459463 1q21.1 1q21.1 610414 NBPF15, MGC8902 Neuroblastoma breakpoint family, member 15 NBPF15 284565 ENSG00000266338 contains 6 copies of DUF1220 domain
chr1 144421385 144459463 1q21.1 1q21.1 614005 NBPF16 Neuroblastoma breakpoint family, member 16 NBPF15 284565 ENSG00000266338
chr1 144887190 145095320 1q21.1 1q21.1 614703 SRGAP2B SLIT-ROBO Rho GTPase-activating protein 2B SRGAP2B 647135 ENSG00000196369
chr1 145093804 145112691 1p21 1q21.1 614712 FAM72D Family with sequence similarity 72, member D FAM72D 728833 ENSG00000215784
chr1 145287765 145287838 1p36.1 1q21.1 189880 TRNAN1, TRN1, TRN tRNA asparagine TRN-GTT2-1 7214
chr1 145289899 145405777 1q21.1 1q21.1 614007 NBPF20 Neuroblastoma breakpoint family, member 20 NBPF20 100288142 ENSG00000162825
chr1 145607959 145670976 1q21.1 1q21.1 612821 GPR89A G protein-coupled receptor 89A GPR89A 653519 ENSG00000117262 Gpr89 (MGI:1914799)
chr1 145670851 145708200 1q21 1q21.1 603831 PDZK1 PDZ domain-containing 1 PDZK1 5174 ENSG00000174827 Pdzk1 (MGI:1928901)
chr1 145719311 145739287 1q21.1 1q21.1 604463 CD160, BY55 CD160 antigen CD160 11126 ENSG00000117281 Cd160 (MGI:1860383)
chr1 145823182 145844401 1q21.1 1q21.1 617454 POLR3C, RPC62, RPC3 Polymerase III, RNA, subunit C POLR3C 10623 ENSG00000186141 Polr3c (MGI:1921664)
chr1 145848521 145859080 1q21 1q21.1 605987 PIAS3 Protein inhibitor of activated STAT3 PIAS3 10401 ENSG00000131788 Pias3 (MGI:1913126)
chr1 145891207 145910188 1q21.1 1q21.1 604042 ITGA10 Integrin, alpha-10 ITGA10 8515 ENSG00000143127 Itga10 (MGI:2153482)
chr1 145911347 145918923 1q21.1 1q21.1 603867 PEX11B, PEX14B Peroxisome biogenesis 11B PEX11B 8799 ENSG00000131779 mutation identified in 1 PEX14B patient ?Peroxisome biogenesis disorder 14B, 614920 (3), Autosomal recessive Pex11b (MGI:1338882)
chr1 145921555 145927535 1q12 1q21.1 605313 RBM8A, RBM8B, TAR, C1DELq21.1, DEL1q21.1 RNA-binding motif protein 8A RBM8A 9939 ENSG00000265241 pseudogene on chr.14 Thrombocytopenia-absent radius syndrome, 274000 (3), Autosomal recessive Rbm8a (MGI:1913129)
chr1 145959036 145978847 1q21.1 1q21.1 617457 POLR3GL Polymerase III, RNA, subunit G-like POLR3GL 84265 ENSG00000121851 Polr3gl (MGI:1917120)
chr1 145992425 145996630 1q21 1q21.1 606599 TXNIP, VDUP1 Thioredoxin-interacting protein TXNIP 10628 ENSG00000265972 Txnip (MGI:1889549)
chr1 146017467 146021821 1q21 1q21.1 608374 HJV, HFE2A Hemojuvelin HJV 148738 ENSG00000168509 between D1S442 and D1S2347 Hemochromatosis, type 2A, 602390 (3), Autosomal recessive Hfe2 (MGI:1916835)
chr1 146066317 146144803 1q21.1 1q21.1 614000 NBPF10 Neuroblastoma breakpoint family, member 10 NBPF10 100132406 ENSG00000271425
chr1 146486331 146822033 1q21.1 1q21.1 610813 HYDIN2, KIAA1864 Hydin, mouse, homolog of, 2 HYDIN2 100288805 duplicated copy 16q22.2
chr1 146938544 146996092 1q21.1 1q21.1 608607 NBPF12, COAS1, KIAA1245 Neuroblastoma breakpoint family, member 12 NBPF12 149013 ENSG00000268043
chr1 147155105 147173365 1q21.1 1q21.1 602741 PRKAB2 Protein kinase, AMP-activated, noncatalytic, beta-2 PRKAB2 5565 ENSG00000131791 Prkab2 (MGI:1336185)
chr1 147173193 147295765 1q21 1q21.1 613039 CHD1L, ALC1 Chromodomain helicase DNA-binding protein 1-like CHD1L 9557 ENSG00000131778 Chd1l (MGI:1915308)
chr1 147183962 147225797 1q21.1 1q21.1 603957 FMO5 Flavin-containing monooxygenase 5 FMO5 2330 ENSG00000131781 Fmo5 (MGI:1310004)
chr1 147541500 147626218 1q21 1q21.2 602597 BCL9 B-cell CLL/lymphoma-9 BCL9 607 ENSG00000116128 Bcl9 (MGI:1924828)
chr1 147626181 147670542 1q21 1q21.2 611471 ACP6, LPAP, ACPL1 Acid phosphatase 6, lysophosphatide ACP6 51205 ENSG00000162836 Acp6 (MGI:1931010)
chr1 147756198 147781126 1q21.2 1q21.2 121013 GJA5, CX40, ATFB11 Gap junction protein, alpha-5, 40kD (connexin 40) GJA5 2702 ENSG00000265107 Atrial fibrillation, familial, 11, 614049 (3), Autosomal dominant; Atrial standstill, digenic (GJA5/SCN5A), 108770 (3), Autosomal dominant Gja5 (MGI:95716)
chr1 147902819 147915286 1q21.1 1q21.2 600897 GJA8, CX50, CTRCT1, CZP1, CAE1 Gap junction membrane channel protein alpha-8 (connexin 50) GJA8 2703 ENSG00000121634 Cataract 1, multiple types, 116200 (3), Autosomal dominant Gja8 (MGI:99953)
chr1 147928373 147993591 1q21.1 1q21.2 612806 GPR89B, GPHR G protein-coupled receptor 89B GPR89B 51463 ENSG00000117262 Gpr89 (MGI:1914799)
chr1 148102045 148152189 1q21.1 1q21.2 614001 NBPF11 Neuroblastoma breakpoint family, member 11 NBPF11 200030 ENSG00000263956
chr1 148531384 148595716 1q21.1 1q21.2 614003 NBPF14 Neuroblastoma breakpoint, member 14 NBPF14 25832 ENSG00000270629
chr1 148808180 149051276 1q21.1 1q21.2 608117 PDE4DIP, MMGL, KIAA0454, KIAA0477 Phosphodiesterase 4D-interacting protein PDE4DIP 9659 ENSG00000178104 Pde4dip (MGI:1891434)
chr1 149054032 149082310 1q21.1 1q21.2 613999 NBPF9 Neuroblastoma breakpoint family, member 9 NBPF9 400818 ENSG00000269713
chr1 149475897 149556360 1q21.1 1q21.2 614006 NBPF19 Neuroblastoma breakpoint family, member 19 NBPF19 101060226 ENSG00000271383
chr1 149782070 149792517 1q21.2-q21.3 1q21.2 146760 FCGR1A, IGFR1, CD64 Fc fragment of IgG, high affinity Ia, receptor for (CD64) FCGR1A 2209 ENSG00000150337 [IgG receptor I, phagocytic, familial deficiency of] (3) Fcgr1 (MGI:95498)
chr1 149832656 149833051 1q21 1q21.2 142750 H4FN, H4F2 H4 histone, family 2 HIST2H4A 8370 ENSG00000270882 100-200 histone genes; some on chromosome 6 and 12, as well as perhaps 7 Hist1h4b (MGI:2448420)
chr1 149840686 149841192 1q21 1q21.2 142780 HIST2H3C, H3F2 Histone 2, H3c HIST2H3C 126961 ENSG00000203811 H3f3c (MGI:3650546)
chr1 149842217 149842750 1q21 1q21.2 142720 HIST2H2AA, H2AFO, H2A Histone 2, H2aa HIST2H2AA3 8337 ENSG00000203812 Hist2h2aa1,Hist2h2aa2 (MGI:96097,MGI:2448283)
chr1 149884459 149886681 1q21-q23 1q21.2 601831 HIST2H2BE, H2B Histone 2, H2be HIST2H2BE 8349 ENSG00000184678
chr1 149886974 149887410 1q21-q23 1q21.2 602797 HIST2H2AC, H2AFQ Histone 2, H2ac HIST2H2AC 8338 ENSG00000184260 Hist2h2ac (MGI:2448316)
chr1 149887468 149887915 1q21 1q21.2 615014 HIST2H2AB, H2AB Histone gene cluster 2, H2A histone family, member B HIST2H2AB 317772 ENSG00000184270 Hist2h2ab (MGI:2448314)
chr1 149899581 149900794 1q21.2 1q21.2 613181 BOLA1 BolA, E. coli, homolog of, 1 BOLA1 51027 ENSG00000178096 Bola1 (MGI:1916418)
chr1 149903317 149917881 1q21.2 1q21.2 185860 SV2A, SV2 Synaptic vesicle glycoprotein 2A SV2A 9900 ENSG00000159164 Sv2a (MGI:1927139)
chr1 149923316 149928251 1q21.2 1q21.2 605593 SF3B4, SF3B49, SAP49, AFD1 Splicing factor 3B, subunit 4 SF3B4 10262 ENSG00000143368 Acrofacial dysostosis 1, Nager type, 154400 (3), Autosomal dominant Sf3b4 (MGI:109580)
chr1 149940329 150010775 1q21.2 1q21.2 611748 OTUD7B, CEZANNE OTU domain-containing protein 7B OTUD7B 56957 ENSG00000264522 Otud7b (MGI:2654703)
chr1 150067278 150145326 1q21-q22 1q21.2 610035 VPS45A, VPS45, SCN5 Vacuolar protein sorting 45, yeast, homolog of, A VPS45 11311 ENSG00000136631 Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3), Autosomal recessive Vps45 (MGI:891965)
chr1 150149433 150160064 1q21.2 1q21.2 608335 PLEKHO1, CKIP1 Pleckstrin homology domain-containing protein, family O, member 1 PLEKHO1 51177 ENSG00000023902 Plekho1 (MGI:1914470)
chr1 150218416 150236155 1q22 1q21.2 609611 ANP32E, LANPL Acidic leucine-rich nuclear phosphoprotein 32 family, member E ANP32E 81611 ENSG00000143401
chr1 150257257 150265861 1q21 1q21.2 604832 CA14 Carbonic anhydrase XIV CA14 23632 ENSG00000118298 Car14 (MGI:1344341)
chr1 150265398 150282178 1p36.13-q31.3 1q21.2 607629 APH1A Anterior pharynx defective 1, C. elegans, homolog of, A APH1A 51107 ENSG00000117362 Aph1a (MGI:2385110)
chr1 150282532 150287092 1q21.2 1q21.2 615782 CIART, CHRONO, GM129 Circadian-associated repressor of transcription CIART 148523 ENSG00000159208 Ciart (MGI:2684975)
chr1 150293841 150308978 1q21 1q21.2 611984 MRPS21 Mitochondrial ribosomal protein S21 MRPS21 54460 ENSG00000266472 9 pseudogenes Mrps21 (MGI:1913542)
chr1 150321467 150353227 1q21.2 1q21.2 607301 PRPF3, HPRP3, RP18 Precursor mRNA-processing factor 3, S. cerevisiae, homolog of PRPF3 9129 ENSG00000117360 Retinitis pigmentosa 18, 601414 (3), Autosomal dominant Prpf3 (MGI:1918017)
chr1 150364110 150476565 1q21.3 1q21.2 614695 RPRD2 Regulation of nuclear pre-mRNA domain-containing 2 RPRD2 23248 ENSG00000163125 Rprd2 (MGI:1922387)
chr1 150487363 150507608 1q21.2 1q21.2 612805 TARS2, COXPD21 Threonyl-tRNA synthetase 2 TARS2 80222 ENSG00000143374 mutation identified in one COXPD21 family ?Combined oxidative phosphorylation deficiency 21, 615918 (3), Autosomal recessive Tars2 (MGI:1919057)
chr1 150508010 150513788 1q21 1q21.2 602201 ECM1, URBWD Extracellular matrix protein-1 ECM1 1893 ENSG00000143369 Urbach-Wiethe disease, 247100 (3), Autosomal recessive Ecm1 (MGI:103060)
chr1 150515756 150518031 1q21.2 1q21.2 616092 FALEC, FAL1 Focally amplified long noncoding RNA in epithelial cancer FALEC 100874054
chr1 150549368 150560936 1q21 1q21.2 610113 ADAMTSL4, TSRC1, ECTOL2 ADAMTS-like 4 ADAMTSL4 54507 ENSG00000143382 Ectopia lentis et pupillae, 225200 (3), Autosomal recessive; Ectopia lentis, isolated, autosomal recessive, 225100 (3), Autosomal recessive Adamtsl4 (MGI:2389008)
chr1 150574550 150579737 1q21 1q21.2 159552 MCL1 Myeloid cell leukemia sequence 1 (BCL2-related) MCL1 4170 ENSG00000143384 Mcl1 (MGI:101769)
chr1 150600000 155100000 1q21.3 139450 HRM2 Hair morphology 2 (curly hair) 100379199 associated with rs11803731 Hair, curly, 139450 (2), Autosomal dominant
chr1 150622122 150629621 1q21.2 1q21.3 603061 ENSA Endosulfine, alpha ENSA 2029 ENSG00000143420 Ensa (MGI:1891189)
chr1 150646224 150697195 1q21.2 1q21.3 612208 GOLPH3L, GPP34R Golgi phosphoprotein 3-like GOLPH3L 55204 ENSG00000143457 Golph3l (MGI:1917129)
chr1 150698058 150720909 1q21.3 1q21.3 609824 HORMAD1, NOHMA HORMA domain-containing 1 HORMAD1 84072 ENSG00000143452 Hormad1 (MGI:1915231)
chr1 150730195 150765956 1q21 1q21.3 116845 CTSS Cathepsin S CTSS 1520 ENSG00000163131 Ctss (MGI:107341)
chr1 150796207 150808440 1q21 1q21.3 601105 CTSK Cathepsin K CTSK 1513 ENSG00000143387 Pycnodysostosis, 265800 (3), Autosomal recessive Ctsk (MGI:107823)
chr1 150809704 150876767 1q21 1q21.3 126110 ARNT Aryl hydrocarbon receptor nuclear translocator ARNT 405 ENSG00000143437 Arnt (MGI:88071)
chr1 150926245 150964743 1q21 1q21.3 604396 SETDB1 SET domain protein, bifurcated, 1 SETDB1 9869 ENSG00000143379 Setdb1 (MGI:1934229)
chr1 150965172 150975002 1q21.3 1q21.3 606920 CERS2, LASS2 Ceramide synthase 2 CERS2 29956 ENSG00000143418 Cers2 (MGI:1924143)
chr1 150982022 150996062 1q21 1q21.3 603319 ANXA9, ANX31 Annexin A9 (annexin XXXI) ANXA9 8416 ENSG00000143412 Anxa9 (MGI:1923711)
chr1 151008390 151035712 1q21.3 1q21.3 617413 PRUNE1, DRES17, NMIHBA Prune exopolyphosphatase 1 PRUNE1 58497 ENSG00000143363 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive Prune1 (MGI:1925152)
chr1 151036320 151047599 1q21.3 1q21.3 611275 BNIPL, BNIPS, BNIPL1, BNIPL2 BCL2/adenovirus E1B 19kD protein-interacting protein 2-like BNIPL 149428 ENSG00000163141 Bnipl (MGI:2384749)
chr1 151059674 151068496 1q21 1q21.3 604684 MLLT11, AF1Q Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 11 MLLT11 10962 ENSG00000213190 Mllt11 (MGI:1929671)
chr1 151131684 151148407 1q21.3 1q21.3 609294 SEMA6C, KIAA1869 Semaphorin 6C SEMA6C 10500 ENSG00000143434 Sema6c (MGI:1338032)
chr1 151156628 151159748 1q21.2-q21.3 1q21.3 612112 TNFAIP8L2, TIPE2 Tumor necrosis factor-alpha-induced protein 8-like 2 TNFAIP8L2 79626 ENSG00000163154 Tnfaip8l2 (MGI:1917019)
chr1 151166021 151170296 1q21.3 1q21.3 608095 SCNM1, MGC3180 Sodium channel modifier 1 SCNM1 79005 ENSG00000163156 Scnm1 (MGI:1341284)
chr1 151169985 151176070 1q12 1q21.3 605834 TMOD4 Tropomodulin 4, muscle TMOD4 29765 ENSG00000163157 Tmod4 (MGI:1355285)
chr1 151176299 151190212 1q21 1q21.3 600607 VPS72, CFL1, YL1 Vacuolar protein sorting 72, yeast, homolog of VPS72 6944 ENSG00000163159 Vps72 (MGI:1202305)
chr1 151197953 151249535 1q22-q24 1q21.3 603275 PIP5K1A Phosphatidylinositol-4-phosphate 5-kinase, type I, alpha PIP5K1A 8394 ENSG00000143398 Pip5k1a (MGI:107929)
chr1 151254699 151267478 1q21.3 1q21.3 601648 PSMD4, S5A, RPN10 Proteasome 26S subunit, non-ATPase, 4 PSMD4 5710 ENSG00000159352 Psmd4 (MGI:1201670)
chr1 151281554 151291904 1q21.2 1q21.3 610568 ZNF687, KIAA1441, PDB6 Zinc finger protein 687 ZNF687 57592 ENSG00000143373 fused with AML1 in t(1;21) Paget disease of bone 6, 616833 (3), Autosomal dominant Zfp687 (MGI:1925516)
chr1 151291796 151327714 1q21.1-q21.3 1q21.3 602758 PIK4CB Phosphatidylinositol 4-kinase, catalytic, beta polypeptide PI4KB 5298 ENSG00000143393 Pi4kb (MGI:1334433)
chr1 151340639 151347318 1q21.1-q21.3 1q21.3 601863 RFX5 Regulatory factor X, 5 (influences HLA class II expression) RFX5 5993 ENSG00000143390 Bare lymphocyte syndrome, type II, complementation group C, 209920 (3), Autosomal recessive; Bare lymphocyte syndrome, type II, complementation group E, 209920 (3), Autosomal recessive
chr1 151364301 151372733 1q21-q22 1q21.3 604188 SELENBP1, SP56 Selenium-binding protein 1 SELENBP1 8991 ENSG00000143416 Selenbp2,Selenbp1 (MGI:96825,MGI:104859)
chr1 151399564 151401935 1q21 1q21.3 602177 PSMB4 Proteasome subunit, beta type, 4 PSMB4 5692 ENSG00000159377 Psmb4 (MGI:1098257)
chr1 151402723 151459464 1q21.3 1q21.3 614787 POGZ, KIAA0461, MRD37, WHSUS POGO transposable element with ZNF domain POGZ 23126 ENSG00000143442 White-Sutton syndrome, 616364 (3), Autosomal dominant Pogz (MGI:2442117)
chr1 151540293 151583582 1q21 1q21.3 600087 TUFT1 Tuftelin 1 TUFT1 7286 ENSG00000143367 ?mutant in amelogenesis imperfecta Tuft1 (MGI:109572)
chr1 151612026 151699082 1q21.3 1q21.3 611541 SNX27, MRT1 Sorting nexin 27 SNX27 81609 ENSG00000143376 Snx27 (MGI:1923992)
chr1 151696651 151716820 1q21 1q21.3 612678 CELF3, TNRC4, BRUNOL1 CUGbp- and ELAV-like family, member 3 CELF3 11189 ENSG00000159409 Celf3 (MGI:1926034)
chr1 151759642 151763915 1q21 1q21.3 611824 MRPL9 Mitochondrial ribosomal protein L9 MRPL9 65005 ENSG00000143436 Mrpl9 (MGI:2137211)
chr1 151762968 151771329 1q21.3 1q21.3 605138 OAZ3, AZ3 Ornithine decarboxylase antizyme 3 OAZ3 51686 ENSG00000143450 Oaz3 (MGI:1858170)
chr1 151800263 151805441 1q21.3 1q21.3 609794 LINGO4, LRRN6D Leucine-rich repeat- and Ig domain-containing NOGO receptor-interacting protein 4 LINGO4 339398 ENSG00000213171 Lingo4 (MGI:2444651)
chr1 151806070 151832450 1q21 1q21.3 602943 RORC, RORG, RZRG, IMD42 RAR-related orphan receptor C RORC 6097 ENSG00000143365 Immunodeficiency 42, 616622 (3), Autosomal recessive Rorc (MGI:104856)
chr1 151847100 151853696 1q21.3 1q21.3 615653 THEM5, ACOT15 Thioesterase superfamily member 5 THEM5 284486 Them5 (MGI:1913448)
chr1 151870865 151909884 1q21 1q21.3 606388 CTMP C-terminal modulator protein THEM4 117145 ENSG00000159445 Them4 (MGI:1923028)
chr1 151982909 151994237 1q21 1q21.3 114085 S100A10, CAL1L S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11)) S100A10 6281 ENSG00000197747 on chr.3 in mouse S100a10 (MGI:1339468)
chr1 152032505 152037034 1q21 1q21.3 603114 S100A11 S100 calcium-binding protein A11 S100A11 6282 ENSG00000163191 S100a11-ps (MGI:3645720)
chr1 152106316 152115453 1q21.3 1q21.3 190370 TCHH, THH, THL, TRHY, UHS3 Trichohyalin TCHH 7062 ENSG00000159450 mutation identified in 1 UHS3 patient ?Uncombable hair syndrome 3, 617252 (3), Autosomal recessive
chr1 152153594 152159227 1q21 1q21.3 613259 RPTN Repetin RPTN 126638 ENSG00000215853 Rptn (MGI:1099055)
chr1 152212075 152224195 1q21.3 1q21.3 616293 HRNR Hornerin HRNR 388697 ENSG00000197915
chr1 152302174 152325202 1q21 1q21.3 135940 FLG, ATOD2 Filaggrin FLG 2312 ENSG00000143631 {Dermatitis, atopic, susceptibility to, 2}, 605803 (3); Ichthyosis vulgaris, 146700 (3), Autosomal dominant
chr1 152348734 152360027 1q21.3 1q21.3 616284 FLG2, IFPS Filaggrin family, member 2 FLG2 388698 ENSG00000143520
chr1 152510843 152512176 1q21 1q21.3 612619 LCE5A, LEP18 Late cornified envelope protein 5A LCE5A 254910 ENSG00000186207
chr1 152514501 152516009 1q21.3 1q21.3 617426 CRCT1, NICE1, C1orf42 Cysteine-rich c-terminal 1 CRCT1 54544 ENSG00000169509
chr1 152565653 152566769 1q21 1q21.3 612617 LCE3E, LEP17 Late cornified envelope protein 3E LCE3E 353145 ENSG00000185966
chr1 152579383 152580503 1q21 1q21.3 612616 LCE3D, LEP16 Late cornified envelope protein 3D LCE3D 84648 ENSG00000163202 within intron 2 of LCE3C
chr1 152600661 152601085 1q21 1q21.3 612615 LCE3C, LEP15 Late cornified envelope protein 3C LCE3C 353144 ENSG00000244057
chr1 152613810 152614097 1q21 1q21.3 612614 LCE3B, LEP14 Late cornified envelope protein 3B LCE3B 353143 ENSG00000187238
chr1 152622833 152623102 1q21 1q21.3 612613 LCE3A, LEP13 Late cornified envelope protein 3A LCE3A 353142 ENSG00000185962
chr1 152663410 152664658 1q21 1q21.3 612612 LCE2D, LEP12 Late cornified envelope protein 2D LCE2D 353141 ENSG00000187223
chr1 152675314 152676573 1q21 1q21.3 612611 LCE2C, LEP11 Late cornified envelope protein 2C LCE2C 353140 ENSG00000187180
chr1 152686122 152687400 1q21 1q21.3 612610 LCE2B, LEP10, XP5 Late cornified envelope protein 2B LCE2B 26239 ENSG00000159455
chr1 152698363 152699441 1q21 1q21.3 612609 LCE2A, LEP9 Late cornified envelope protein 2A LCE2A 353139 ENSG00000187173
chr1 152709046 152709433 1q21 1q21.3 612618 LCE4A, LEP8 Late cornified envelope protein 4A LCE4A 199834 ENSG00000187170
chr1 152758029 152762052 1q21 1q21.3 613260 KPRP Keratinocyte proline-rich protein KPRP 448834 ENSG00000203786 Kprp (MGI:1920981)
chr1 152776371 152776968 1q21 1q21.3 612608 LCE1F, LEP6 Late cornified envelope protein 1F LCE1F 353137 ENSG00000240386
chr1 152786276 152788425 1q21 1q21.3 612607 LCE1E Late cornified envelope protein 1E LCE1E 353135 ENSG00000186226
chr1 152796750 152798180 1q21 1q21.3 612606 LCE1D, LEP4 Late cornified envelope protein 1D LCE1D 353134 ENSG00000172155
chr1 152804834 152806630 1q21 1q21.3 612605 LCE1C, LEP3 Late cornified envelope 1C LCE1C 353133 ENSG00000197084
chr1 152811970 152813108 1q21 1q21.3 612604 LCE1B, LEP2 Late cornified envelope protein 1B LCE1B 353132 ENSG00000196734
chr1 152827472 152828096 1q21 1q21.3 612603 LCE1A, LEP1 Late cornified envelope protein 1A LCE1A 353131 ENSG00000186844
chr1 152878321 152885046 1q21 1q21.3 601148 SMCP, MCSP, MCS Sperm mitochondria-associated cysteine-rich protein SMCP 4184 ENSG00000163206
chr1 152908544 152911885 1q21 1q21.3 147360 IVL Involucrin IVL 3713 ENSG00000163207
chr1 152968754 152972601 1q21 1q21.3 616363 SPRR4 Small proline-rich protein 4 SPRR4 163778 ENSG00000184148
chr1 152984087 152985813 1q21-q22 1q21.3 182265 SPRR1A Small proline-rich protein 1A SPRR1A 6698 ENSG00000169474 Sprr1a (MGI:106660)
chr1 153001746 153003855 1q21-q22 1q21.3 182271 SPRR3 Small proline-rich protein 3 SPRR3 6707 ENSG00000163209 Sprr3 (MGI:1330237)
chr1 153031202 153032899 1q21-q22 1q21.3 182266 SPRR1B Small proline-rich protein 1B SPRR1B 6699 ENSG00000169469
chr1 153039724 153041143 1q21.3 1q21.3 617587 SPRR2D Small proline-rich protein 2D SPRR2D 6703 ENSG00000163216
chr1 153056119 153057511 1q21-q22 1q21.3 182267 SPRR2A Small proline-rich protein 2A SPRR2A 6700 ENSG00000241794 about 7 SPRR2 genes
chr1 153070225 153071607 1q21-q22 1q21.3 182268 SPRR2B Small proline-rich protein 2B SPRR2B 6701 ENSG00000196805
chr1 153093134 153094527 1q21.3 1q21.3 617588 SPRR2E Small proline-rich protein 2E SPRR2E 6704 ENSG00000203785
chr1 153112120 153119459 1q21.3 1q21.3 617589 SPRR2F Small proline-rich protein 2F SPRR2F 6705 ENSG00000244094
chr1 153149581 153195376 1q21.3 1q21.3 617590 SPRR2G Small proline-rich protein 2G SPRR2G 6706 ENSG00000159516
chr1 153203429 153205124 1q21 1q21.3 611042 LELP1 Late cornified envelope-like proline-rich 1 LELP1 149018 ENSG00000203784
chr1 153259634 153262124 1q21 1q21.3 152445 LOR Loricrin LOR 4014 ENSG00000203782 Vohwinkel syndrome with ichthyosis, 604117 (3), Autosomal dominant
chr1 153297588 153312974 1q21 1q21.3 608197 PGRPIA Peptidoglycan recognition protein, intermediate, alpha PGLYRP3 114771 ENSG00000159527 Pglyrp3 (MGI:2685266)
chr1 153327409 153348843 1q21 1q21.3 608198 PGRPIB Peptidoglycan recognition protein, intermediate, beta PGLYRP4 57115 ENSG00000163218 Pglyrp4 (MGI:2686324)
chr1 153357853 153361026 1q12-q22 1q21.3 123886 S100A9, CAGB, CFAG S100 calcium-binding protein A9 (calgranulin B) S100A9 6280 ENSG00000163220 S100a9 (MGI:1338947)
chr1 153373707 153375598 1q21 1q21.3 603112 S100A12, CAAF1, CGRP S100 calcium-binding protein A12 S100A12 6283 ENSG00000163221 between S100A8 and S100A9
chr1 153390031 153422582 1q21 1q21.3 123885 S100A8, CAGA, CFAG S100 calcium-binding protein A8 (calgranulin A) S100A8 6279 ENSG00000143546 over-expressed in 1q21-linked psoriasis S100a8 (MGI:88244)
chr1 153416523 153423224 1q21.3 1q21.3 617427 S100A7A, S100A15, NICE2 S100 calcium-binding protein A7A S100A7A 338324 ENSG00000184330
chr1 153457743 153460660 1q21 1q21.3 600353 S100A7 S100 calcium-binding protein A7 S100A7 6278 ENSG00000143556
chr1 153534598 153536240 1q21 1q21.3 114110 S100A6, CACY S100 calcium-binding protein A6 (calcyclin) S100A6 6277 ENSG00000197956 S100a6 (MGI:1339467)
chr1 153537113 153543513 1q21 1q21.3 176991 S100A5, S100D S100 calcium-binding protein A5 S100A5 6276 ENSG00000196420 S100a5 (MGI:1338915)
chr1 153543618 153545805 1q21 1q21.3 114210 S100A4, CAPL S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog) S100A4 6275 ENSG00000196154 S100a4 (MGI:1330282)
chr1 153547332 153549257 1q21 1q21.3 176992 S100A3, S100E S100 calcium-binding protein A3 S100A3 6274 ENSG00000188015 S100a3 (MGI:1338849)
chr1 153561107 153565829 1q21 1q21.3 176993 S100A2, S100L S100 calcium-binding protein A2 S100A2 6273 ENSG00000196754
chr1 153606882 153613167 1p21.3 1q21.3 617437 S100A16, AAG13 S100 calcium-binding protein A16 S100A16 140576 ENSG00000188643 S100a16 (MGI:1915110)
chr1 153614254 153616916 1q21 1q21.3 607986 S100A14, BCMP84 S100 Calcium-binding protein A14 S100A14 57402 ENSG00000189334 S100a14 (MGI:1913416)
chr1 153618798 153634091 1q21 1q21.3 601989 S100A13 S100 calcium-binding protein A13 S100A13 6284 ENSG00000189171 S100a13 (MGI:109581)
chr1 153628396 153632036 1q21 1q21.3 176940 S100A1 S100 protein, alpha polypeptide S100A1 6271 ENSG00000160678 S100a1 (MGI:1338917)
chr1 153633981 153646305 1q21.3 1q21.3 614206 CHTOP, C10orf77, SRAG, FOP Chromatin target of PRMT1 CHTOP 26097 ENSG00000160679
chr1 153658653 153661851 1q22 1q21.3 607007 SNAPIN, SNAPAP, BLOC1S7, BLOS7 SNAP-associated protein SNAPIN 23557 ENSG00000143553 Snapin (MGI:1333745)
chr1 153678648 153693991 1q21-q22 1q21.3 108960 NPR1, ANPRA Natriuretic peptide receptor A/guanylate cyclase A NPR1 4881 ENSG00000169418 Npr1 (MGI:97371)
chr1 153728066 153774807 1q21.3 1q21.3 611347 INTS3, INT3, SOSSA Integrator complex subunit 3 INTS3 65123 ENSG00000143624 Ints3 (MGI:2140050)
chr1 153774353 153780159 1q21.3 1q21.3 604193 SLC27A3, FATP3 Solute carrier family 27 (fatty acid transporter), member 3 SLC27A3 11000 ENSG00000143554 Slc27a3 (MGI:1347358)
chr1 153804906 153923952 1q23.1 1q21.3 614998 GATAD2B, KIAA1150, p68, MRD18 GATA zinc finger domain-containing protein 2B GATAD2B 57459 ENSG00000143614 Mental retardation, autosomal dominant 18, 615074 (3), Autosomal dominant Gatad2b (MGI:2443225)
chr1 153947671 153958655 1q21.3 1q21.3 608972 CRTC2, TORC2 CREB-regulated transcription coactivator 2 CRTC2 200186 ENSG00000160741 Crtc2 (MGI:1921593)
chr1 153959098 153968183 1q21 1q21.3 604740 SLC39A1, ZIRTL Solute carrier family 39 (zinc transporter), member 3 (zinc/iron-regulated transporter-like) SLC39A1 27173 ENSG00000143570 REc Slc39a1 (MGI:1353474)
chr1 153967486 153974363 1q21.3 1q21.3 607138 CREB3L4, CREB4, AIBZIP cAMP responsive element binding protein 3-like 4 CREB3L4 148327 ENSG00000143578 Creb3l4 (MGI:1916603)
chr1 153974268 153977974 1q21 1q21.3 604671 JTB, PAR Jumping translocation breakpoint JTB 10899 ENSG00000143543 Jtb (MGI:1346082)
chr1 153981616 153990643 1q21.3 1q21.3 602672 RAB13 RAB13, member RAS oncogene family RAB13 5872 ENSG00000143545 previously assigned to 12q13 by in situ hybridization Rab13 (MGI:1927232)
chr1 153990754 153992154 1q21 1q21.3 603702 RPS27, MPS1, DBA17 Ribosomal protein S27 RPS27 6232 ENSG00000185088 mutation identified in 1 DBA17 patient ?Diamond-Blackfan anemia 17, 617409 (3), Autosomal dominant
chr1 154155303 154192134 1q22-q23 1q21.3 191030 TPM3, NEM1, CFTD, CAPM1 Tropomyosin 3 TPM3 7170 ENSG00000143549 TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd CAP myopathy 1, 609284 (3), Autosomal recessive, Autosomal dominant; Myopathy, congenital, with fiber-type disproportion, 255310 (3), Autosomal recessive, Autosomal dominant; Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3), Autosomal recessive, Autosomal dominant Tpm3 (MGI:1890149)
chr1 154206700 154220796 1q21.3 1q21.3 617428 C1orf43, NS5ATP4, NICE3 Chromosome 1 open reading frame 43 C1orf43 25912 ENSG00000143612 4933434E20Rik (MGI:1914027)
chr1 154220171 154271509 1q21.3 1q21.3 616472 UBAP2L, NICE4 Ubiquitin-associated protein 2-like UBAP2L 9898 ENSG00000143569
chr1 154272562 154275874 1q21.3 1q21.3 605998 HAX1, SCN3 HCLS1-associated protein X1 HAX1 10456 ENSG00000143575 Neutropenia, severe congenital 3, autosomal recessive, 610738 (3), Autosomal recessive Hax1 (MGI:1346319)
chr1 154321058 154325324 1q21.3 1q21.3 606578 AQP10 Aquaporin 10 AQP10 89872 ENSG00000143595
chr1 154325559 154351303 1q21.3 1q21.3 605867 ATP8B2, ATPID ATPase, class I, type 8B, member 2 ATP8B2 57198 ENSG00000143515 Atp8b2 (MGI:1859660)
chr1 154405192 154469449 1q21.3 1q21.3 147880 IL6R, IL6RQ, IL6Q Interleukin-6 receptor IL6R 3570 ENSG00000160712 IL6R-like gene on chr.9 [Interleukin 6, serum level of, QTL], 614752 (3); [Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3) Il6ra (MGI:105304)
chr1 154467194 154502559 1q21.3 1q21.3 610482 SHE SH2 domain-containing protein E SHE 126669 ENSG00000169291 She (MGI:1099462)
chr1 154548574 154558643 1q21.3 1q21.3 617429 UBE2Q1, GTAP, NICE5 Ubiquitin-conjugating enzyme E2Q family member 1 UBE2Q1 55585 ENSG00000160714 Ube2q1 (MGI:1917343)
chr1 154567780 154584707 1q21 1q21.3 118507 CHRNB2, EFNL3 Cholinergic receptor, nicotinic, beta polypeptide-2 CHRNB2 1141 ENSG00000160716 linked to AMY in mouse Epilepsy, nocturnal frontal lobe, 3, 605375 (3) Chrnb2 (MGI:87891)
chr1 154582056 154631559 1q21.3 1q21.3 146920 ADAR, DRADA, DSH, DSRAD, IFI4, G1P1, AGS6 Adenosine deaminase, RNA-specific ADAR 103 ENSG00000160710 Aicardi-Goutieres syndrome 6, 615010 (3), Autosomal recessive; Dyschromatosis symmetrica hereditaria, 127400 (3), Autosomal dominant Adar (MGI:1889575)
chr1 154697461 154870277 1q21.3 1q21.3 602983 KCNN3, SK3, SKCA3 Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 3 KCNN3 3782 ENSG00000143603 Kcnn3 (MGI:2153183)
chr1 154924731 154942688 1q21.3 1q21.3 607622 PMVK, PMK, POROK1 Phosphomevalonate kinase PMVK 10654 ENSG00000163344 Porokeratosis 1, multiple types, 175800 (3), Autosomal dominant Pmvk (MGI:1915853)
chr1 154957025 154961781 1q21.3 1q21.3 606903 PYGO2 Pygopus, Drosophila, homolog of, 2 PYGO2 90780 ENSG00000163348 Pygo2 (MGI:1916161)
chr1 154962297 154974491 1q21 1q21.3 600560 SHC1 SHC (Src homology 2 domain-containing) transforming protein-1 SHC1 6464 ENSG00000160691 Shc1 (MGI:98296)
chr1 154974641 154979248 1q21.3 1q21.3 116900 CKS1B, CKS1 CDC28 protein kinase 1B CKS1B 1163 ENSG00000173207 previously to 8q21 by FISH Cks1b (MGI:1889208)
chr1 154983293 154993110 1q21.3 1q21.3 610595 FLAD1, FADS, LSMFLAD Flavin adenine dinucleotide synthetase, S. cerevisiae, homolog of FLAD1 80308 ENSG00000160688 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive Flad1 (MGI:2443030)
chr1 154993585 154994314 1q22 1q21.3 607377 LENEP, LEP503 Lens epithelial protein LENEP 55891 ENSG00000163352 Lenep (MGI:1930020)
chr1 155002627 155018524 1q21.3 1q21.3 607646 ZBTB7B, ZFP67, CKROX, THPOK Zinc finger- and BTB domain-containing protein 7B ZBTB7B 51043 ENSG00000160685 Zbtb7b (MGI:102755)
chr1 155051271 155062775 1q21.3 1q21.3 605548 ADAM15, MDC15 A disintegrin and metalloproteinase domain 15 ADAM15 8751 ENSG00000143537 Adam15 (MGI:1333882)
chr1 155063736 155069552 1q21-q22 1q21.3 601380 EFNA4, EPLG4 eph-related receptor tyrosine kinase ligand 4 (ephrin-A4) EFNA4 1945 ENSG00000243364 Efna4 (MGI:106643)
chr1 155078871 155087537 1q21-q22 1q21.3 601381 EFNA3, EPLG3 eph-related receptor tyrosine kinase ligand 3 (ephrin A3) EFNA3 1944 ENSG00000143590 Efna3 (MGI:106644)
chr1 155127872 155134909 1q21-q22 1q22 191164 EFNA1, EPLG1, TNFAIP4 eph-related receptor tyrosine kinase ligand 1 (tumor necrosis factor, alpha-induced protein 4) EFNA1 1942 ENSG00000169242 Efna1 (MGI:103236)
chr1 155135343 155138857 1q22 1q22 613683 SLC50A1, RAG1AP1 Solute carrier family 50 (sugar transporter), member 1 SLC50A1 55974 ENSG00000169241 Slc50a1 (MGI:107417)
chr1 155139890 155140572 1q12-q21 1q22 605951 DPM3, CDG1O Dolichyl-phosphate mannosyltransferase 3 DPM3 54344 ENSG00000179085 Congenital disorder of glycosylation, type Io, 612937 (3) Dpm3 (MGI:1915813)
chr1 155173380 155184970 1q21 1q22 600986 GENEY Gene Y TRIM46 80128 ENSG00000163462 Trim46 (MGI:2673000)
chr1 155185823 155192914 1q21 1q22 158340 MUC1, PUM, MCKD1 Mucin 1, transmembrane MUC1 4582 ENSG00000185499 5cM proximal to SPTA1 Medullary cystic kidney disease 1, 174000 (3), Autosomal dominant
chr1 155195587 155209179 1q21 1q22 188062 THBS3, TSP3 Thrombospondin 3 THBS3 7059 ENSG00000169231 Thbs3 (MGI:98739)
chr1 155208698 155213838 1q21 1q22 600605 MTX1, MTXN Metaxin 1 MTX1 4580 ENSG00000173171 between GBA and TSP3 Mtx1 (MGI:103025)
chr1 155234447 155244861 1q21 1q22 606463 GBA Glucosidase, acid beta GBA 2629 ENSG00000177628 pseudogene GBAP ~16kb 3' to GBA Gaucher disease, perinatal lethal, 608013 (3), Autosomal recessive; Gaucher disease, type I, 230800 (3), Autosomal recessive; Gaucher disease, type II, 230900 (3), Autosomal recessive; Gaucher disease, type III, 231000 (3), Autosomal recessive; Gaucher disease, type IIIC, 231005 (3), Autosomal recessive; {Lewy body dementia, susceptibility to}, 127750 (3), Autosomal dominant; {Parkinson disease, late-onset, susceptibility to}, 168600 (3), Isolated cases, Multifactorial Gba (MGI:95665)
chr1 155255978 155262384 1q21 1q22 606913 SCAMP3, PROPIN1 Secretory carrier membrane protein 3 SCAMP3 10067 ENSG00000116521 Scamp3 (MGI:1346346)
chr1 155262867 155273528 1p31 1q22 602989 CLK2 CDC-like kinase 2 CLK2 1196 ENSG00000176444 near GDLD and PRKAA2; conflicting assignment 1q21 Clk2 (MGI:1098669)
chr1 155277426 155289847 1q22 1q22 609973 HCN3, KIAA1535 Hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 HCN3 57657 ENSG00000143630 Hcn3 (MGI:1298211)
chr1 155289292 155301433 1q21 1q22 609712 PKLR, PK1 Pyruvate kinase, liver and RBC type PKLR 5313 ENSG00000143627 Adenosine triphosphate, elevated, of erythrocytes, 102900 (3), Autosomal dominant; Pyruvate kinase deficiency, 266200 (3), Autosomal recessive Pklr (MGI:97604)
chr1 155308747 155320665 1q22 1q22 134629 FDPS, FPS, POROK9 Farnesyl diphosphate synthase FDPS 2224 ENSG00000160752 Porokeratosis 9, multiple types, 616631 (3), Autosomal dominant Fdps (MGI:104888)
chr1 155320848 155331117 1q22 1q22 617318 RUSC1, NESCA RUN domain- and SH3 domain-containing protein 1 RUSC1 23623 ENSG00000160753 Rusc1 (MGI:1919546)
chr1 155335260 155563159 1q22 1q22 607999 ASH1L, KIAA1420, ASH1, MRD52 ash1 (absent, small, or homeotic), Drosophila, homolog of ASH1L 55870 ENSG00000116539 Mental retardation, autosomal dominant 52, 617796 (3), Autosomal dominant Ash1l (MGI:2183158)
chr1 155610169 155614966 1q22 1q22 617619 MSTO1, MMYAT Misato 1, mitochondrial distribution and morphology regulator MSTO1 55154 ENSG00000125459 Myopathy, mitochondrial, and ataxia, 617675 (3), Autosomal recessive, Autosomal dominant Msto1 (MGI:2385175)
chr1 155659441 155689031 1q22 1q22 607860 YY1AP1, YAP, HCCA2, GRNG YY1 associated protein 1 YY1AP1 55249 ENSG00000163374 Grange syndrome, 602531 (3), Autosomal recessive
chr1 155687901 155739009 1q21 1q22 602074 DAP3 Death associated protein 3 DAP3 7818 ENSG00000132676 Dap3 (MGI:1929538)
chr1 155749657 155859425 1q22 1q22 610393 GON4L, KIAA1606 GON4-like protein GON4L 54856 ENSG00000116580 Gon4l (MGI:1917579)
chr1 155897807 155911401 1q22 1q22 609591 RIT1, RIT, ROC1, NS8 Ric-like protein without CAAX motif 1 RIT1 6016 ENSG00000143622 Noonan syndrome 8, 615355 (3), Autosomal dominant Rit1 (MGI:108053)
chr1 155941688 155942833 1q22 1q22 609043 RXFP4, RLN3R2, GPR100, GPCR142 Relaxin/insulin-like family peptide receptor 4 RXFP4 339403 ENSG00000173080 Rxfp4 (MGI:2182926)
chr1 155946838 155991261 1q21-q22 1q22 607560 ARHGEF2, GEFH1, KIAA0651, NEDMHM RHO guanine nucleotide exchange factor 2 ARHGEF2 9181 ENSG00000116584 mutation identified in 1 NEDMHM family ?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523 (3), Autosomal recessive Arhgef2 (MGI:103264)
chr1 156009047 156020966 1q21-q23 1q22 600867 SSR2 Signal sequence receptor, beta SSR2 6746 ENSG00000163479 Ssr2 (MGI:1913506)
chr1 156033128 156053824 1q21 1q22 605440 UBQLN4, A1U, C1orf6 Ubiquitin 4 UBQLN4 56893 ENSG00000160803 Ubqln4 (MGI:2150152)
chr1 156054725 156058509 1q22 1q22 610389 LAMTOR2, MAPBPIP, p14 Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 LAMTOR2 28956 ENSG00000116586 Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3), Autosomal recessive Lamtor2 (MGI:1932697)
chr1 156061148 156070513 1q22 1q22 612942 RAB25, RAB11C Ras-associated protein RAB25 RAB25 57111 ENSG00000132698 Rab25 (MGI:1858203)
chr1 156072012 156081997 1q22 1q22 611007 MEX3A Mex-3, C. elegans, homolog of, A MEX3A 92312 ENSG00000254726 Mex3a (MGI:1919890)
chr1 156082545 156140088 1q21.2 1q22 150330 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B Lamin A/C LMNA 4000 ENSG00000160789 Cardiomyopathy, dilated, 1A, 115200 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2B1, 605588 (3), Autosomal recessive; Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3), Autosomal dominant; Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3), Autosomal recessive; Heart-hand syndrome, Slovenian type, 610140 (3), Autosomal dominant; Hutchinson-Gilford progeria, 176670 (3), Autosomal recessive, Autosomal dominant; Lipodystrophy, familial partial, type 2, 151660 (3), Autosomal dominant; Malouf syndrome, 212112 (3), Autosomal dominant; Mandibuloacral dysplasia, 248370 (3), Autosomal recessive; Muscular dystrophy, congenital, 613205 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, type 1B, 159001 (3), Autosomal dominant; Restrictive dermopathy, lethal, 275210 (3), Autosomal recessive Lmna (MGI:96794)
chr1 156149671 156177750 1q22 1q22 607292 SEMA4A, SEMB, RP35, CORD10 Semaphorin 4A SEMA4A 64218 ENSG00000196189 Cone-rod dystrophy 10, 610283 (3), Autosomal recessive; Retinitis pigmentosa 35, 610282 (3), Autosomal recessive, Autosomal dominant Sema4a (MGI:107560)
chr1 156193931 156212795 1q22 1q22 610824 SLC25A44 Solute carrier family 25, member 44 SLC25A44 9673 ENSG00000160785 Slc25a44 (MGI:2444391)
chr1 156212987 156240076 1q12 1q22 609176 PMF1 Polyamine-modulated factor 1 PMF1 11243 ENSG00000160783 Pmf1 (MGI:1914287)
chr1 156241961 156243331 1q25-q31 1q22 112260 BGLAP Bone gamma-carboxyglutamic acid protein BGLAP 632 ENSG00000242252 Bglap3,Bglap2,Bglap (MGI:88157,MGI:88155,MGI:88156)
chr1 156243320 156248521 1q22 1q22 614579 PAQR6 Progestin and ADIPOQ receptor family, member 6 PAQR6 79957 ENSG00000160781 Paqr6 (MGI:1916207)
chr1 156249223 156291497 1q21.2 1q22 610962 SMG5, EST1B, KIAA1089 SMG5, C. elegans, homolog of SMG5 23381 ENSG00000198952 Smg5 (MGI:2447364)
chr1 156282912 156292442 1q23.1 1q22 615531 TMEM79, MATT Transmembrane protein 79 TMEM79 84283 ENSG00000163472 Tmem79 (MGI:1919163)
chr1 156308960 156338414 1q23 1q22 600114 CCT3, TRIC5 Chaperonin-containing TCP1, subunit 3, gamma (TCP1 (t-complex-1) ring complex, polypeptide 5) CCT3 7203 ENSG00000163468 Cct3 (MGI:104708)
chr1 156366043 156385220 1q21.3 1q22 607079 RHBG Rhesus blood group, B glycoprotein RHBG 57127 ENSG00000132677 Rhbg (MGI:1927379)
chr1 156420340 156420428 1q22 1q22 611186 MIR9-1, MIRN9-1 Micro RNA 9-1 MIR9-1 407046
chr1 156463720 156500841 1q12-q23 1q22 600663 MEF2D MADS box transcription enhancer factor 2, polypeptide D (myocyte enhancer factor 2D) MEF2D 4209 ENSG00000116604 Mef2d (MGI:99533)
chr1 156591765 156599817 1q21 1q22 608862 NAXE, APOA1BP, AIBP, PEBEL NAD(P)HX epimerase NAXE 128240 ENSG00000163382 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive Naxe (MGI:2180167)
chr1 156600000 165500000 1q23 605913 BDET Bleeding disorder, east Texas type 85504 Bleeding disorder, east Texas type, 605913 (2)
chr1 156600000 165500000 1q23 157560 D1S61, D1S111, MS336 Minisatellite 33.6 7824
chr1 156641947 156659531 1q23.1 1q23.1 600347 BCAN Brevican BCAN 63827 ENSG00000132692 Bcan (MGI:1096385)
chr1 156668762 156677396 1q23.1 1q23.1 600915 NES Nestin NES 10763 ENSG00000132688
chr1 156699605 156705815 1q21.3 1q23.1 180231 CRABP2, RBP6 Cellular retinoic acid-binding protein-2 CRABP2 1382 ENSG00000143320 Crabp2 (MGI:88491)
chr1 156721890 156728717 1q23.1 1q23.1 611930 ISG20L2 Interferon-stimulated exonuclease gene 20-kD-like 2 ISG20L2 81875 ENSG00000143319 Isg20l2 (MGI:2140076)
chr1 156737301 156741266 1q21-q22 1q23.1 611836 MRPL24 Mitochondrial ribosomal protein L24 MRPL24 79590 ENSG00000143314 Mrpl24 (MGI:1914957)
chr1 156742106 156752447 1q21 1q23.1 600339 HDGF Hepatoma-derived growth factor HDGF 3068 ENSG00000143321 previously assigned to Chr.X Hdgf (MGI:1194494)
chr1 156767481 156800818 1q21 1q23.1 179755 PRCC, RCCP1 Papillary renal cell carcinoma, translocation-associated PRCC 5546 ENSG00000143294 t(X;1)(p11;q21); fuses with TFE3 in RCCP Renal cell carcinoma, papillary, 605074 (3) Prcc (MGI:2137738)
chr1 156806237 156816852 1q21 1q23.1 604514 SH2D2A, TSAD SH2 domain protein 2A SH2D2A 9047 ENSG00000027869 Sh2d2a (MGI:1351596)
chr1 156815749 156881849 1q21-q22 1q23.1 191315 NTRK1, TRKA, MTC Neurotrophic tyrosine kinase, receptor, type 1 NTRK1 4914 ENSG00000198400 TRK = chimera of TPM3 and NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3), Autosomal recessive; Medullary thyroid carcinoma, familial, 155240 (3), Autosomal dominant Ntrk1 (MGI:97383)
chr1 156840872 156858919 1q21-q23 1q23.1 147671 INSRR, IRR Insulin receptor-related receptor INSRR 3645 ENSG00000027644 Insrr (MGI:1346037)
chr1 156893696 156916433 1q23.1 1q23.1 610278 PEAR1 Platelet endothelial aggregation receptor 1 PEAR1 375033 ENSG00000187800 Pear1 (MGI:1920432)
chr1 157121190 157138590 1q21-q23 1q23.1 164873 ETV3, PE1 ets variant gene 3 ETV3 2117 ENSG00000117036 Etv3 (MGI:1350926)
chr1 157513376 157552532 1q21 1q23.1 605877 IRTA2 Immunoglobulin superfamily receptor translocation-associated gene 2 FCRL5 83416 ENSG00000143297 Fcrl5 (MGI:3053558)
chr1 157573748 157598079 1q21 1q23.1 605876 IRTA1 Immunoglobulin superfamily receptor translocation-associated gene 1 FCRL4 83417 ENSG00000163518 fused with IGHA1 in multiple myeloma
chr1 157676480 157700984 1q21.2-q22 1q23.1 606510 FCRH3 Fc receptor-like protein 3 FCRL3 115352 ENSG00000160856
chr1 157745732 157777471 1q21.2-q22 1q23.1 606509 SPAP1, SPAP1A, SPAP1B, SPAP1C SH2 domain-containing phosphatase anchor protein 1 FCRL2 79368 ENSG00000132704
chr1 157792248 157820149 1q21.2-q22 1q23.1 606508 FCRL1, FCRH1 Fc receptor-like protein 1 FCRL1 115350 ENSG00000163534 Fcrl1 (MGI:2442862)
chr1 157827070 157841843 1q21-q23 1q23.1 602592 CD5L CD5 antigen-like (scavenger receptor cysteine rich family) CD5L 922 ENSG00000073754 Cd5l (MGI:1334419)
chr1 157993272 158100261 1q23.1 1q23.1 607428 KIRREL, NEPH1 Kin of IRRE-like KIRREL1 55243 ENSG00000183853 Kirrel (MGI:1891396)
chr1 158178037 158186426 1q21-q23 1q23.1 188410 CD1D Thymocyte antigen CD1D CD1D 912 ENSG00000158473 Cd1d1 (MGI:107674)
chr1 158248328 158258268 1q21-q23 1q23.1 188370 CD1A Thymocyte antigen CD1A CD1A 909 ENSG00000158477 genes A, B, C, D in cluster
chr1 158285405 158331530 1q21-q23 1q23.1 188360 CD1B Thymocyte antigen CD1B CD1B 910 ENSG00000158485
chr1 158289772 158294773 1q21-q23 1q23.1 188340 CD1C Thymocyte antigen CD1C CD1C 911 ENSG00000158481
chr1 158353122 158357553 1q21-q23 1q23.1 188411 CD1E Thymocyte antigen CD1E CD1E 913 ENSG00000158488
chr1 158610497 158686714 1q21 1q23.1 182860 SPTA1, EL2, SPH3, HS3, HPP Spectrin, alpha, erythrocytic-1 SPTA1 6708 ENSG00000163554 17cM proximal to FY Elliptocytosis-2, 130600 (3), Autosomal dominant; Pyropoikilocytosis, 266140 (3), Autosomal recessive; Spherocytosis, type 3, 270970 (3), Autosomal recessive Spta1 (MGI:98385)
chr1 158831302 158849503 1q22 1q23.1 159553 MNDA Myeloid cell nuclear differentiation antigen MNDA 4332 ENSG00000163563
chr1 158931176 159010082 1q21-q23 1q23.1 612677 PYHIN1, IFIX Pyrin and Hin domain family, member 1 PYHIN1 149628 ENSG00000163564
chr1 158999969 159055154 1q22 1q23.1 147586 IFI16 Interferon, gamma-inducible protein 16 IFI16 3428 ENSG00000163565 Ifi209,Ifi208,Ifi207,Ifi206,Ifi205,Ifi204,Ifi203,Ifi214,Ifi213,Ifi211,Mndal,Ifi203-ps (MGI:3041120,MGI:3584522,MGI:3780953,MGI:96429,MGI:96428,MGI:3695276,MGI:3646410,MGI:2442822,MGI:3840117,MGI:2138302,MGI:101847,MGI:2138243)
chr1 159059225 159132350 1q22 1q23.1-q23.2 604578 AIM2 Absent in melanoma 2 AIM2 9447 ENSG00000163568 Aim2 (MGI:2686159)
chr1 159171563 159203312 1q21.2-q22 1q23.2 609743 CADM3, IGSF4B, TSLL1, NECL1, SYNCAM3 Cell adhesion molecule 3 CADM3 57863 ENSG00000162706 Cadm3 (MGI:2137858)
chr1 159204012 159206499 1q23.2 1q23.2 613665 ACKR1, DARC, FY, GPD, WBCQ1 Atypical chemokine receptor 1 (Duffy antigen receptor for chemokines) ACKR1 2532 ENSG00000213088 by A, 1q22-q23 [Blood group, Duffy system], 110700 (3), Autosomal recessive, Autosomal dominant; {Malaria, vivax, protection against}, 611162 (3); [White blood cell count QTL], 611862 (3), Autosomal recessive Ackr1 (MGI:1097689)
chr1 159283887 159308223 1q23 1q23.2 147140 FCER1A Fc IgE receptor, alpha polypeptide FCER1A 2205 ENSG00000179639 Fcer1a (MGI:95494)
chr1 159587825 159588870 1q21-q23 1q23.2 104770 APCS, SAP Amyloid P component, serum APCS 325 ENSG00000132703 probably close to CRP {?Amyloidosis, secondary, susceptibility to} (1) Apcs (MGI:98229)
chr1 159712288 159714588 1q21-q23 1q23.2 123260 CRP C-reactive protein CRP 1401 ENSG00000132693 Crp (MGI:88512)
chr1 159826688 159837496 1q21 1q23.2 606620 SLAMF8, BLAME SLAM family, member 8 SLAMF8 56833 ENSG00000158714 Slamf8 (MGI:1921998)
chr1 159872363 159900115 1q22-q24 1q23.2 605152 CCDC19, NESG1 Coiled-coil domain-containing 19 CFAP45 25790 ENSG00000213085 Cfap45 (MGI:1919120)
chr1 159918106 159925541 1q21-q25 1q23.2 604634 TAGLN2 Transgelin 2 TAGLN2 8407 ENSG00000158710 Tagln2 (MGI:1312985)
chr1 159927038 159945660 1q22-q23 1q23.2 609738 IGSF9, KIAA1355 Immunoglobulin superfamily, member 9 IGSF9 57549 ENSG00000085552 Igsf9 (MGI:2135283)
chr1 160027671 160031992 1q23.2 1q23.2 610273 PIGM Phosphatidylinositol glycan, class M PIGM 93183 ENSG00000143315 Glycosylphosphatidylinositol deficiency, 610293 (3), Autosomal recessive Pigm (MGI:1914806)
chr1 160037466 160070260 1q23.2 1q23.2 602208 KCNJ10, SESAME Potassium inwardly-rectifying channel, subfamily J, member 10 KCNJ10 3766 ENSG00000177807 Enlarged vestibular aqueduct, digenic, 600791 (3), Autosomal recessive; SESAME syndrome, 612780 (3), Autosomal recessive Kcnj10 (MGI:1194504)
chr1 160055000 160090562 1q23.2 1q23.2 600932 KCNJ9, GIRK3 Potassium inwardly-rectifying channel, subfamily J, member 9 KCNJ9 3765 ENSG00000162728 Kcnj9 (MGI:108007)
chr1 160091338 160099441 1q23.1 1q23.2 606644 IGSF8, PGRL, CD81P3 Immunoglobulin superfamily, member 8 IGSF8 93185 ENSG00000162729 Igsf8 (MGI:2154090)
chr1 160115729 160143590 1q21-q23 1q23.2 182340 ATP1A2, FHM2, MHP2 ATPase, Na+K+ transporting, alpha-2 polypeptide ATP1A2 477 ENSG00000018625 Alternating hemiplegia of childhood 1, 104290 (3), Autosomal dominant; Migraine, familial basilar, 602481 (3), Autosomal dominant; Migraine, familial hemiplegic, 2, 602481 (3), Autosomal dominant Atp1a2 (MGI:88106)
chr1 160151561 160186976 1q21-q32 1q23.2 607321 ATP1A4, ATP1AL2 ATPase, Na+/K+ transporting, alpha-4 polypeptide ATP1A4 480 ENSG00000132681 Atp1a4 (MGI:1351335)
chr1 160190494 160201885 1q21 1q23.2 114250 CASQ1, VMCQA Calsequestrin, fast-twitch, skeletal muscle-1 CASQ1 844 ENSG00000143318 Myopathy, vacuolar, with CASQ1 aggregates, 616231 (3), Autosomal dominant Casq1 (MGI:1309468)
chr1 160205318 160215375 1q21.1 1q23.2 603434 PEA15, HMAT1, PED Phosphoprotein enriched in astrocytes, 15kD PEA15 8682 ENSG00000162734 Pea15a (MGI:104799)
chr1 160215714 160262559 1q23.2 1q23.2 615820 DCAF8, WDR42A, GAN2 DDB1- and CUL4-associated factor 8 DCAF8 50717 ENSG00000132716 mutation identified in 1 GAN2 family ?Giant axonal neuropathy 2, autosomal dominant, 610100 (3), Autosomal dominant Dcaf8 (MGI:91860)
chr1 160276808 160285150 1q22 1q23.2 600279 PEX19, PXF, HK33, D1S2223E, PBD12A Peroxisome biogenesis factor 19 (peroxisomal farnesylated protein) PEX19 5824 ENSG00000162735 Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3), Autosomal recessive Pex19 (MGI:1334458)
chr1 160288586 160343563 1q23-q25 1q23.2 601924 COPA, AILJK Coatomer protein complex, subunit alpha COPA 1314 ENSG00000122218 {Autoimmune interstitial lung, joint, and kidney disease}, 616414 (3), Autosomal dominant Copa (MGI:1334462)
chr1 160343272 160358951 1q22-q23 1q23.2 605254 NCSTN Nicastrin NCSTN 23385 ENSG00000162736 Acne inversa, familial, 1, 142690 (3), Autosomal dominant Ncstn (MGI:1891700)
chr1 160367070 160372847 1q22 1q23.2 162360 NHLH1, HEN1 Nescient helix loop helix 1 NHLH1 4807 ENSG00000171786 closely linked to Sap in mouse Nhlh1 (MGI:98481)
chr1 160400573 160428677 1q21-q23 1q23.2 600533 VANGL2, LTAP Vang-like 2 (loop-tail, mouse, homolog of) VANGL2 57216 ENSG00000162738 Neural tube defects, 182940 (3), Autosomal dominant Vangl2 (MGI:2135272)
chr1 160485029 160523262 1q23.1 1q23.2-q23.3 606446 SLAMF6, NTBA SLAM family, member 6 SLAMF6 114836 ENSG00000162739 Slamf6 (MGI:1353620)
chr1 160500000 165500000 1q23.3 610141 QTV QT interval, variation in 100379215 associated with rs12143842 [QT interval, variation in], 610141 (2)
chr1 160541093 160579515 1q23.3 1q23.3 604513 CD84, SLAMF5 CD84 antigen CD84 8832 ENSG00000066294 Cd84 (MGI:1336885)
chr1 160608099 160647310 1q22-q23 1q23.3 603492 SLAMF1, SLAM, CDW150, CD150 SLAM family, member 1 SLAMF1 6504 ENSG00000117090 Slamf1 (MGI:1351314)
chr1 160678745 160711850 1q21.3-q22 1q23.3 109530 CD48, BCM1, BLAST1 CD48 antigen (B-cell membrane protein) CD48 962 ENSG00000117091 Cd48 (MGI:88339)
chr1 160739056 160754820 1q23-q24 1q23.3 606625 SLAMF7, CRACC, CS1 SLAM family, member 7 SLAMF7 57823 ENSG00000026751 Slamf7 (MGI:1922595)
chr1 160796073 160828255 1q21.3-q22 1q23.3 600684 LY9 T-lymphocyte surface antigen Ly-9 LY9 4063 ENSG00000122224 within 410kb of CD48 Ly9 (MGI:96885)
chr1 160830159 160862901 1q22 1q23.3 605554 CD244, NAIL, NKR2B4, SLAMF4 CD244 antigen CD244 51744 ENSG00000122223 {Rheumatoid arthritis, susceptibility to}, 180300 (3) Cd244 (MGI:109294)
chr1 160876539 160885169 1q21.3-q22 1q23.3 609873 ITLN1, INTL, LFR, HL1 Intelectin 1 ITLN1 55600 ENSG00000179914 Itln1 (MGI:1333831)
chr1 160945019 160957377 1q21.3-q22 1q23.3 609874 ITLN2, HL2 Intelectin 2 ITLN2 142683 ENSG00000158764
chr1 160995205 161021342 1q21.2-q21.3 1q23.3 605721 F11R, JAM1 F11 receptor (junctional adhesion molecule 1) F11R 50848 ENSG00000158769 F11r (MGI:1321398)
chr1 161037630 161038983 1q23.3 1q23.3 616041 TSTD1, KAT Thiosulfate sulfurtransferase (rhodanese)-like domain-containing protein 1 TSTD1 100131187 ENSG00000215845 Tstd1 (MGI:3648482)
chr1 161039250 161045978 1q22-q23 1q23.3 191523 USF1, HYPLIP1 Upstream transcription factor 1 USF1 7391 ENSG00000158773 {Hyperlipidemia, familial combined, susceptibility to}, 602491 (3) Usf1 (MGI:99542)
chr1 161046941 161069970 1q23.3 1q23.3 614264 ARHGAP30 RHO GTPase-activating protein 30 ARHGAP30 257106 ENSG00000186517 Arhgap30 (MGI:2684948)
chr1 161070990 161089594 1q23.3 1q23.3 609607 NECTIN 4, PVRL4, PRR4, EDSS1 Nectin 4 NECTIN4 81607 ENSG00000143217 Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3), Autosomal recessive Nectin4 (MGI:1918990)
chr1 161098360 161100347 1q23.3 1q23.3 617375 KLHDC9, KARCA1 Kelch domain-containing protein 9 KLHDC9 126823 ENSG00000162755 Klhdc9 (MGI:1916124)
chr1 161100555 161118075 1q23.3 1q23.3 613466 PFDN2 Prefoldin 2 PFDN2 5202 ENSG00000143256 Pfdn2 (MGI:1276111)
chr1 161118071 161125445 1q21-q22 1q23.3 604618 NIT1 Nitrilase 1 NIT1 4817 ENSG00000158793 Nit1 (MGI:1350916)
chr1 161120976 161132782 1q23.3 1q23.3 606841 DEDD, DEFT Death effector domain-containing protein DEDD 9191 ENSG00000158796 Dedd (MGI:1333874)
chr1 161132702 161158855 1q23.3 1q23.3 610554 UFC1 Ubiquitin-fold modifier-conjugating enzyme 1 UFC1 51506 ENSG00000143222 Ufc1 (MGI:1913405)
chr1 161159463 161165751 1q22 1q23.3 604729 USP21, USP23 Ubiquitin-specific protease 21 USP21 27005 ENSG00000143258 Usp21 (MGI:1353665)
chr1 161165823 161178276 1q22 1q23.3 600923 PPOX Protoporphyrinogen oxidase PPOX 5498 ENSG00000143224 Porphyria variegata, 176200 (3), Autosomal dominant Ppox (MGI:104968)
chr1 161171309 161185006 1q23 1q23.3 604014 B4GALT3 Beta-1,4-galactosyltransferase 3 B4GALT3 8703 ENSG00000158850 B4galt3 (MGI:1928767)
chr1 161189728 161202338 1q21-q23 1q23.3 603876 ADAMTS4 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 4 (aggrecanase 1) ADAMTS4 9507 ENSG00000158859 Adamts4 (MGI:1339949)
chr1 161199314 161214394 1q23 1q23.3 602985 NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kD NDUFS2 4720 ENSG00000158864 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufs2 (MGI:2385112)
chr1 161215296 161219247 1q23 1q23.3 147139 FCER1G Fc fragment of IgE, high affinity I, receptor for, gamma polypeptide FCER1G 2207 ENSG00000158869 probably on 1q close to CD32 Fcer1g (MGI:95496)
chr1 161222292 161223627 1q21-q23 1q23.3 107670 APOA2 Apolipoprotein A-II APOA2 336 ENSG00000158874 Apolipoprotein A-II deficiency (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3), Autosomal dominant Apoa2 (MGI:88050)
chr1 161229665 161238622 1q23.1 1q23.3 603881 NR1I3, CAR, MB67 Nuclear receptor subfamily 1, group I, member 3 NR1I3 9970 ENSG00000143257 Nr1i3 (MGI:1346307)
chr1 161303593 161309971 1q22 1q23.3 159440 MPZ, CMT1B, CMTDID, CHM, DSS Myelin protein zero MPZ 4359 ENSG00000158887 Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1B, 118200 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2I, 607677 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2J, 607736 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; Neuropathy, congenital hypomyelinating, 605253 (3), Autosomal recessive, Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant Mpz (MGI:103177)
chr1 161314375 161364750 1q21 1q23.3 602413 SDHC, PGL3 Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD SDHC 6391 ENSG00000143252 Gastrointestinal stromal tumor, 606764 (3), Autosomal dominant, Isolated cases; Paraganglioma and gastric stromal sarcoma, 606864 (3); Paragangliomas 3, 605373 (3), Autosomal dominant Sdhc (MGI:1913302)
chr1 161364730 161367882 1q23.3 1q23.3 616119 CFAP126, FLTP Cilia- and flagella-associated protein 126 CFAP126 257177 ENSG00000188931 Cfap126 (MGI:1922722)
chr1 161505414 161524047 1q21-q23 1q23.3 146790 FCGR2A, IGFR2, CD32 Fc fragment of IgG, low affinity IIa, receptor for (CD32) FCGR2A 2212 ENSG00000143226 FCG2 and FCG3 within 250kb {Lupus nephritis, susceptibility to}, 152700 (3), Autosomal dominant; {Malaria, severe, susceptibility to}, 611162 (3); {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3), Autosomal recessive Fcgr3 (MGI:95500)
chr1 161524539 161526896 1q 1q23.3 140555 HSPA6 Heat-shock 70kD protein-6 (HSP70B') HSPA6 3310 ENSG00000173110
chr1 161541758 161550736 1q23 1q23.3 146740 FCGR3A, CD16, IGFR3, IMD20 Fc fragment of IgG, low affinity III, receptor for (CD16) FCGR3A 2214 ENSG00000203747 FCGR2A and FCGR3A within 250kb antigen Immunodeficiency 20, 615707 (3), Autosomal recessive Fcgr4 (MGI:2179523)
chr1 161581338 161601219 1q23 1q23.3 612169 FCGR2C, CD32C Fc fragment of IgG, low affinity IIc, receptor for FCGR2C 9103 ENSG00000143226 Thrombocytopenic purpura, autoimmune, 188030 (1), Autosomal dominant
chr1 161606058 161608550 1q 1q23.3 140556 HSPA7 Heat-shock 70kD protein-7 (HSP70B) HSPA7 3311
chr1 161623195 161631962 1q23 1q23.3 610665 FCGR3B Fc fragment of IgG, low affinity IIIb, receptor for FCGR3B 2215 ENSG00000162747 Neutropenia, alloimmune neonatal (3) Fcgr4 (MGI:2179523)
chr1 161647242 161678653 1q22 1q23.3 604590 FCGR2B, CD32 Fc fragment of IgG, low affinity IIb, receptor for FCGR2B 2213 ENSG00000072694 {Malaria, resistance to}, 611162 (3); {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant Fcgr2b (MGI:95499)
chr1 161706971 161714351 1q23 1q23.3 606891 FREB Fc receptor homolog expressed in B cells FCRLA 84824 ENSG00000132185 Fcrla (MGI:2138647)
chr1 161721543 161728142 1q23.3 1q23.3 609251 FCRLB, FCRL2, FREB2, FCRY Fc receptor-like protein B FCRLB 127943 ENSG00000162746 Fcrlb (MGI:3576487)
chr1 161749767 161757163 1q21-q22 1q23.3 604835 DUSP1, YVH1 Dual-specificity phosphatase 12 DUSP12 11266 ENSG00000081721 Dusp12 (MGI:1890614)
chr1 161766243 161964069 1q22-q23 1q23.3 605537 ATF6, ACHM7 Activating transcription factor-6 ATF6 22926 ENSG00000118217 Achromatopsia 7, 616517 (3), Autosomal recessive Atf6 (MGI:1926157)
chr1 162069790 162370022 1q23.3 1q23.3 605551 NOS1AP, CAPON, KIAA0464 Nitric oxide synthase 1 (neuronal) adaptor protein NOS1AP 9722 ENSG00000198929
chr1 162373724 162376961 1q23.3 1q23.3 617257 SPATA46 Spermatogenesis-associated protein 46 SPATA46 284680 ENSG00000171722 Spata46 (MGI:1924175)
chr1 162395265 162412137 1q22 1q23.3 608510 SH2D1B, EAT2 SH2 domain-containing 1B SH2D1B 117157 ENSG00000198574 Sh2d1b1 (MGI:1349420)
chr1 162497173 162529628 1q23.1 1q23.3 608849 KIS Kinase-interacting stathmin UHMK1 127933 ENSG00000152332 Uhmk1 (MGI:1341908)
chr1 162561439 162599842 1q23.3 1q23.3 602862 UAP1, SPAG2 ADP-N-acetylglucosamine pyrophosphorylase 1 UAP1 6675 ENSG00000117143 Uap1 (MGI:1334459)
chr1 162631264 162786572 1q12-qter 1q23.3 191311 DDR2, NTRKR3, TKT Discoidin domain receptor family, member 2 DDR2 4921 ENSG00000162733 Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3), Autosomal recessive Ddr2 (MGI:1345277)
chr1 162790701 162812817 1q23.3 1q23.3 606756 HSD17B7 17-beta-hydroxysteroid dehydrogenase VII HSD17B7 51478 ENSG00000132196 Hsd17b7 (MGI:1330808)
chr1 163068605 163076801 1q23.3 1q23.3 602516 RGS4 Regulator of G protein signaling 4 RGS4 5999 ENSG00000117152 Rgs4 (MGI:108409)
chr1 163142298 163321790 1q23 1q23.3 603276 RGS5 Regulator of G protein signaling-5 RGS5 8490 ENSG00000143248 [Blood pressure regulation QTL], 145500 (2), Multifactorial Rgs5 (MGI:1098434)
chr1 163321932 163355763 1q23 1q23.3 611772 NUF2, NUF2R, CDCA1 NUF2, S. cerevisiae, homolog of NUF2 83540 ENSG00000143228 Nuf2 (MGI:1914227)
chr1 164559359 164886046 1q23 1q23.3 176310 PBX1, CAKUHED Pre-B cell leukemia transcription factor-1 PBX1 5087 ENSG00000185630 pseudogene PBXP1 on chr.3 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 (3), Autosomal dominant Pbx1 (MGI:97495)
chr1 165201866 165356714 1q22-q23 1q23.3 600298 LMX1A, LMX1 LIM homeo box transcription factor-1, alpha LMX1A 4009 ENSG00000162761 Lmx1a (MGI:1888519)
chr1 165400921 165445354 1q22-q23 1q23.3 180247 RXRG Retinoid X receptor, gamma RXRG 6258 ENSG00000143171 Rxrg (MGI:98216)
chr1 165500000 173000000 1q24 605429 DFNM1 Deafness, nonsyndromic, modifier 1 DFNM1 54362 {Deafness, nonsyndromic, modifier 1}, 605429 (2)
chr1 165544240 165563947 1q24.1 1q24.1 615218 LRRC52 Leucine-rich repeat-containing protein 52 LRRC52 440699 ENSG00000162763 Lrrc52 (MGI:1924118)
chr1 165630872 165656135 1q23 1q24.1 604564 MGST3 Glutatione S-transferase, microsomal, 3 MGST3 4259 ENSG00000143198 Mgst3 (MGI:1913697)
chr1 165662211 165698662 1q22-q23 1q24.1 602733 ALDH9A1, ALDH9, E3 Aldehyde dehydrogenase 9 family, member A1 ALDH9A1 223 ENSG00000143149 Aldh9a1 (MGI:1861622)
chr1 165724290 165768921 1q24.1 1q24.1 614123 TMCO1, CFSMR Transmembrane and coiled-coil domains protein 1 TMCO1 54499 ENSG00000143183 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3), Autosomal recessive Tmco1 (MGI:1921173)
chr1 165827494 165911617 1q22-q23.2 1q24.1 609329 UCK2, TSA903 Uridine/cytidine kinase 2 UCK2 7371 ENSG00000143179 Uck2 (MGI:1931744)
chr1 166856509 166876416 1q24-q25 1q24.1 612763 TADA1L, STAF42 Transcriptional adaptor 1-like TADA1 117143 ENSG00000152382 Tada1 (MGI:1196415)
chr1 166921120 167022213 1q24.1 1q24.1 611368 MAEL Maelstrom, Drosophila, homolog of MAEL 84944 ENSG00000143194 Mael (MGI:2138453)
chr1 167052835 167090630 1q24.1 1q24.1 602171 GPA33 Glycoprotein A33 GPA33 10223 ENSG00000143167 Gpa33 (MGI:1891703)
chr1 167220828 167427344 1q22-q23 1q24.2 164175 OTF1, OCT1 Octamer-binding transcription factor-1 POU2F1 5451 ENSG00000143190 Pou2f1 (MGI:101898)
chr1 167430639 167518609 1q22-q23 1q24.2 186780 CD247, CD3Z, TCRZ, IMD25 CD247 antigen CD247 919 ENSG00000198821 mutation identified in one IMD25 patient ?Immunodeficiency 25, 610163 (3), Autosomal recessive Cd247 (MGI:88334)
chr1 167630192 167708695 1q24 1q24.2 610579 RCSD1, CAPZIP RCSD domain-containing protein 1 RCSD1 92241 ENSG00000198771 Rcsd1 (MGI:2676394)
chr1 167721949 167791918 1q24 1q24.2 604376 MPZL1, PZR Myelin protein zero-like 1 MPZL1 9019 ENSG00000197965 Mpzl1 (MGI:1915731)
chr1 167809079 167916388 1q24 1q24.2 605205 ADCY10, SAC, HCA2 Adenylyl cyclase 10, soluble ADCY10 55811 ENSG00000143199 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3), Autosomal dominant Adcy10 (MGI:2660854)
chr1 167916674 167937068 1q24.2 1q24.2 614737 BRP44, MPC2 Brain protein 44 MPC2 25874 ENSG00000143158 Mpc2 (MGI:1917706)
chr1 167936238 168075842 1q24.2 1q24.2 610494 DCAF6, IQWD1, NRIP DDB1 and CUL4 associated factor 6 DCAF6 55827 ENSG00000143164 Dcaf6 (MGI:1921356)
chr1 168079541 168137666 1q24.2 1q24.2 612250 GPR161 G protein-coupled receptor 161 GPR161 23432 ENSG00000143147 Gpr161 (MGI:2685054)
chr1 168178844 168202113 1q23.2 1q24.2 611807 TIPRL, TIP41, TIP TIP41-like protein TIPRL 261726 ENSG00000143155 Tiprl (MGI:1915087)
chr1 168281039 168314425 1q23-q24 1q24.2 604614 TBX19 T-box 19 TBX19 9095 ENSG00000143178 Adrenocorticotropic hormone deficiency, 201400 (3), Autosomal recessive Tbx19 (MGI:1891158)
chr1 168540764 168543996 1q23 1q24.2 604828 XCL2, SCYC2, SCM1B Chemokine, C motif, ligand 2 XCL2 6846 ENSG00000143185
chr1 168574127 168582076 1q23 1q24.2 600250 XCL1, SCYC1, SCM1, LTN, LPTN Chemokine, C motif, ligand 1 (lymphotactin) XCL1 6375 ENSG00000143184 Xcl1 (MGI:104593)
chr1 168695456 168729203 1q12-q23 1q24.2 125597 DPT Dermatopontin DPT 1805 ENSG00000143196 Dpt (MGI:1928392)
chr1 169106708 169132721 1q22-q25 1q24.2 182330 ATP1B1 ATPase, Na+K+ transporting, beta-1 polypeptide ATP1B1 481 ENSG00000143153 [Blood pressure regulation QTL], 145500 (2), Multifactorial Atp1b1 (MGI:88108)
chr1 169132529 169367962 1q24 1q24.2 613465 NME7, MN23H7 Nonmetastatic cells 7, protein expressed in NME7 29922 ENSG00000143156 Nme7 (MGI:2449121)
chr1 169463908 169485969 1q23.3 1q24.2 603941 SLC19A2, THTR1, TRMA, THMD1 Solute carrier family 19 (thiamine transporter), member 2 SLC19A2 10560 ENSG00000117479 Thiamine-responsive megaloblastic anemia syndrome, 249270 (3), Autosomal recessive Slc19a2 (MGI:1928761)
chr1 169511953 169586629 1q23 1q24.2 612309 F5, THPH2, RPRGL1 Coagulation factor V (proaccelerin, labile factor) F5 2153 ENSG00000198734 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment {Budd-Chiari syndrome}, 600880 (3), Autosomal recessive; Factor V deficiency, 227400 (3), Autosomal recessive; {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3), Autosomal dominant; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial; Thrombophilia due to activated protein C resistance, 188055 (3), Autosomal dominant; {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3), Autosomal dominant F5 (MGI:88382)
chr1 169588848 169630138 1q23-q25 1q24.2 173610 SELP, GRMP Selectin P (granulocyte membrane protein, 140kD; antigen CD62) SELP 6403 ENSG00000174175 in same 300kb segment as LYAM1, ELAM1 Selp (MGI:98280)
chr1 169690664 169711701 1q23-q25 1q24.2 153240 SELL, LYAM1, LAM1, LNHR Selectin L (lymphocyte adhesion molecule 1) SELL 6402 ENSG00000188404 Sell (MGI:98279)
chr1 169722639 169734078 1q23-q25 1q24.2 131210 SELE, ELAM1 Selectin E (endothelial leukocyte adhesion molecule-1) SELE 6401 ENSG00000007908 Sele (MGI:98278)
chr1 169792523 169794975 1q24.2 1q24.2 615255 METTL18, C1orf156 Methyltransferase-like 18 METTL18 92342 ENSG00000171806 Mettl18 (MGI:1917212)
chr1 169853073 169894266 1q24.2 1q24.2 608192 SCYL3, PACE1 SCY1-like 3, S. cerevisiae, homolog of SCYL3 57147 ENSG00000000457 Scyl3 (MGI:1921385)
chr1 169921325 170085202 1q24.2 1q24.2 601836 KIFAP3, SMAP Kinesin-associated protein 3 KIFAP3 22920 ENSG00000075945 Kifap3 (MGI:107566)
chr1 170532121 170553833 1q24.2 1q24.2 607983 GORAB, SCYL1BP1, NTKLBP1, GO Golgin, RAB6-interacting GORAB 92344 ENSG00000120370 Geroderma osteodysplasticum, 231070 (3), Autosomal recessive Gorab (MGI:2138271)
chr1 170662727 170739399 1q24 1q24.2 167420 PRRX1, PMX1, PHOX1, AGOTC Paired-related homeobox gene 1 PRRX1 5396 ENSG00000116132 Agnathia-otocephaly complex, 202650 (3), Autosomal recessive, Autosomal dominant Prrx1 (MGI:97712)
chr1 171090872 171117818 1q23-q25 1q24.3 136132 FMO3, TMAU Flavin-containing monooxygenase 3 FMO3 2328 ENSG00000007933 Trimethylaminuria, 602079 (3), Autosomal recessive Fmo3 (MGI:1100496)
chr1 171185207 171212682 1q23-q25 1q24.3 603955 FMO2 Flavin-containing monooxygenase 2, pulmonary FMO2 2327 ENSG00000094963 probably cluster of FMO genes at 1q23-q25 Fmo2 (MGI:1916776)
chr1 171248470 171285977 1q23-q25 1q24.3 136130 FMO1 Flavin-containing monooxygenase 1, fetal liver FMO1 2326 ENSG00000010932 Fmo1 (MGI:1310002)
chr1 171314130 171342083 1q23-q25 1q24.3 136131 FMO4 Flavin-containing monooxygenase 2, adult liver FMO4 2329 ENSG00000076258 Fmo4 (MGI:2429497)
chr1 171485495 171593510 1q24.3 1q24.3 617373 PRRC2C, KIAA1096 Proline-rich coiled-coil protein 3C PRRC2C 23215 ENSG00000117523 Prrc2c (MGI:1913754)
chr1 171635416 171652632 1q24.3-q25.2 1q24.3 601652 MYOC, TIGR, GLC1A, JOAG, GPOA Myocilin (trabecular meshwork-induced glucocorticoid response protein) MYOC 4653 ENSG00000034971 Glaucoma 1A, primary open angle, 137750 (3), Autosomal dominant Myoc (MGI:1202864)
chr1 171700155 171742843 1q24-q25 1q24.3 606909 VAMP24 Vesicle-associated membrane protein 4 VAMP4 8674 ENSG00000117533 Vamp4 (MGI:1858730)
chr1 171841477 172418465 1q24.3 1q24.3 611445 DNM3, KIAA0820 Dynamin 3 DNM3 26052 ENSG00000197959 Dnm3 (MGI:1341299)
chr1 172138797 172138906 1q24.3 1q24.3 610721 MIR214, MIRN214 Micro RNA 214 MIR214 406996
chr1 172138807 172138887 1q24.3 1q24.3 614722 MIR3120 Micro RNA 3120 MIR3120 100422882 in intron 13 of DNM3 in sense orientation
chr1 172144534 172144643 1q24.3 1q24.3 610720 MIR199A2, MIRN199A2 Micro RNA 199A2 MIR199A2 406977
chr1 172441456 172444089 1q23-q25 1q24.3 601730 PIGC, GPI2, GPIBD16, MRT62 Phosphatidylinositol glycan, class C PIGC 5279 ENSG00000135845 Glycosylphosphatidylinositol biosynthesis defect 16, 617816 (3) Pigc (MGI:1914542)
chr1 172659007 172666872 1q23 1q24.3 134638 FASLG, TNFSF6, APT1LG1, FASL, ALPS1B Fas ligand (TNF superfamily, member 6) FASLG 356 ENSG00000117560 Autoimmune lymphoproliferative syndrome, type IB, 601859 (3), Autosomal dominant; {Lung cancer, susceptibility to}, 211980 (3), Autosomal recessive Fasl (MGI:99255)
chr1 173000000 185800000 1q25 611154 AD14 Alzheimer disease 14 100188754 max lod at D1S218 {Alzheimer disease-14}, 611154 (2)
chr1 173000000 185800000 1q25 608526 PDON2 Periodontitis, aggressive, 2 406237 between D1S196 and D1S533 Periodontitis, aggressive, 2, 608526 (2)
chr1 173000000 185800000 1q25 611013 RGSL2 Regulator of G protein signaling-like 2 related to AD linked to 1q25
chr1 173041219 173050962 1q23 1q25.1 603898 TNFSF18, AITRL, GITRL Tumor necrosis factor ligand superfamily, member 18 TNFSF18 8995 ENSG00000120337 Tnfsf18 (MGI:2673064)
chr1 173183728 173462207 1q25 1q25.1 603594 TNFSF4, GP34, OX4OL Tumor necrosis factor ligand superfamily, member 4 TNFSF4 7292 ENSG00000117586 {Myocardial infarction, susceptibility to}, 608446 (3) Tnfsf4 (MGI:104511)
chr1 173477346 173488806 1q25.1 1q25.1 602316 PRDX6 Peroxiredoxin 6 PRDX6 9588 ENSG00000117592 Prdx6 (MGI:894320)
chr1 173714911 173786825 1q25.1 1q25.1 617679 KLHL20, KLEIP, KLHLX Kelch-like 20 KLHL20 27252 ENSG00000076321 Klhl20 (MGI:2444855)
chr1 173799549 173824638 1q25.1 1q25.1 611503 CENPL Centromeric protein L CENPL 91687 ENSG00000120334 Cenpl (MGI:1917704)
chr1 173824646 173858543 1q25.1 1q25.1 610956 DARS2, ASPRS. LBSL Aspartyl-tRNA synthetase 2 DARS2 55157 ENSG00000117593 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3), Autosomal recessive Dars2 (MGI:2442510)
chr1 173863898 173868881 1q23.3 1q25.1 608280 GAS5 Growth arrest-specific 5 GAS5 60674
chr1 173903803 173917377 1q23-q25 1q25.1 107300 SERPINC1, AT3, AT3D, THPH7 Antithrombin III SERPINC1 462 ENSG00000117601 ~17cM distal to FY Thrombophilia due to antithrombin III deficiency, 613118 (3), Autosomal recessive, Autosomal dominant Serpinc1 (MGI:88095)
chr1 173931083 173993071 1q25.1 1q25.1 609424 RC3H1, KIAA2025 Roquin RC3H1 149041 ENSG00000135870 Rc3h1 (MGI:2685397)
chr1 174448073 174449544 1q24 1q25.1 604106 GPR52 G protein-coupled receptor 52 GPR52 9293 ENSG00000203737 Gpr52 (MGI:3643278)
chr1 174999434 175012026 1q24-q25 1q25.1 606186 SIP SIAH1-interacting protein CACYBP 27101 ENSG00000116161 Cacybp (MGI:1270839)
chr1 175012957 175023454 1q23-q25 1q25.1 611978 MRPS14 Mitochondrial ribosomal protein S14 MRPS14 63931 ENSG00000120333 Mrps14 (MGI:1928141)
chr1 175067857 175148065 1q25.1 1q25.1 617472 TNN Tenascin N TNN 63923 ENSG00000120332 Tnn (MGI:2665790)
chr1 175156985 175193294 1q25.1 1q25.1 616696 KIAA0040 KIAA0040 gene KIAA0040 9674 ENSG00000235750 4930523C07Rik (MGI:1914897)
chr1 175320780 175743701 1q24 1q25.1 601995 TNR Tenascin R (restrictin, janusin) TNR 7143 ENSG00000116147 Tnr (MGI:99516)
chr1 175944825 176209086 1q24.1 1q25.1-q25.2 608067 RFWD2, COP1 Ring finger- and WD repeat domain-containing protein 2 COP1 64326 ENSG00000143207 pseudogenes on chr. 3, 9, 18 Cop1 (MGI:1347046)
chr1 176100000 185800000 1q25.2-q25.3 615492 LINC-COX2 Long intergenic noncoding RNA COX2
chr1 176855116 177164903 1q25 1q25.2 600904 ASTN1, ASTN Astrotactin 1 ASTN1 460 ENSG00000152092 Astn1 (MGI:1098567)
chr1 177928787 177984302 1q25.2 1q25.2 612855 SEC16B, LZTR2, RGPR, SEC16S Sec16, S. cerevisiae, homolog of, B SEC16B 89866 ENSG00000120341 Sec16b (MGI:2148802)
chr1 178093728 178479513 1q25.2 1q25.2 606136 RASAL2, NGAP Ras protein activator-like 2 RASAL2 9462 ENSG00000075391 Rasal2 (MGI:2443881)
chr1 178725146 178921841 1q25.2 1q25.2 617819 RALGPS2, FLJ10244 RAL guanine nucleotide exchange factor with PH domain and SH3 domain-binding motif 2 RALGPS2 55103 ENSG00000116191 Ralgps2 (MGI:1925505)
chr1 179025803 179076573 1q25 1q25.2 611063 FAM20B Family with sequence similarity 20, member B FAM20B 9917 ENSG00000116199 Fam20b (MGI:2443990)
chr1 179081976 179095995 1q25-q31 1q25.2 607555 TOR3A, ADIR Torsin family 3, member A (ATP-dependent interferon-responsive protein) TOR3A 64222 ENSG00000186283 Tor3a (MGI:1353652)
chr1 179099326 179229692 1q24-q25 1q25.2 164690 ABL2, ABLL, ARG Abelson murine leukemia viral (v-abl) oncogene homolog 2 (arg, Abelson-related gene) ABL2 27 ENSG00000143322 fused with ETV6 in AML Leukemia, acute myeloid, with eosinophilia (1) Abl2 (MGI:87860)
chr1 179293713 179358679 1q25 1q25.2 102642 SOAT1, STAT, ACAT Sterol O-acyltransferase 1 (acyl-Coenzyme A: cholesterol acyltransferase 1) SOAT1 6646 ENSG00000057252 Soat1 (MGI:104665)
chr1 179550538 179575986 1q25-q31 1q25.2 604766 PDCN, NPHS2, SRN1 Podocin NPHS2 7827 ENSG00000116218 modifies phenotype of NPHS1 mutations to FSGS Nephrotic syndrome, type 2, 600995 (3), Autosomal recessive Nphs2 (MGI:2157018)
chr1 179591612 179691271 1q25.2 1q25.2 617748 TDRD5, TUDOR3 Tudor domain-containing protein 5 TDRD5 163589 ENSG00000162782 Tdrd5 (MGI:2684949)
chr1 179727762 179816197 1q24.3 1q25.2 611727 C1orf76, NDSP Neuroblastoma-derived secretory protein FAM163A 148753 ENSG00000143340 Fam163a (MGI:3618859)
chr1 179839966 179877805 1q24 1q25.2 614513 TOR1AIP2, LULL1 Torsin A-interacting protein 2 TOR1AIP2 163590 ENSG00000169905 Tor1aip2 (MGI:3582695)
chr1 179882041 179920076 1q24 1q25.2 614512 TOR1AIP1, LAP1, LAP1B, LGMD2Y Torsin A-interacting protein 1 TOR1AIP1 26092 ENSG00000143337 mutation identified in 1 LGMD2Y family ?Muscular dystrophy, limb-girdle, type 2Y, 617072 (3), Autosomal recessive Tor1aip1 (MGI:3582693)
chr1 179954772 180114879 1q25.2 1q25.2 617870 CEP350, CAP350, KIAA0480 Centrosomal protein 350 CEP350 9857 ENSG00000135837 Cep350 (MGI:1921331)
chr1 180154832 180198033 1q24 1q25.2 603120 QSOX1 Quiescin Q6 sulfhydryl oxidase 1 QSOX1 5768 ENSG00000116260 Qsox1 (MGI:1330818)
chr1 180228371 180278981 1q25 1q25.2 602146 LHX4, CPHD4 LIM homeo box gene 4 LHX4 89884 ENSG00000121454 fused to IGH in ALL Pituitary hormone deficiency, combined, 4, 262700 (3), Autosomal dominant Lhx4 (MGI:101776)
chr1 180269662 180502886 1q25.3-q25.3 1q25.2-q25.3 616352 ACBD6 Acyl-CoA-binding domain-containing protein 6 ACBD6 84320 ENSG00000230124 Acbd6 (MGI:1919732)
chr1 180434795 180436801 1q25.3 1q25.3 610030 VDAC4 Voltage-dependent anion channel 4 VDAC1P4 7418
chr1 180632009 180890278 1q25.1 1q25.3 605237 XPR1, SYG1, IBGC6 Xenotropic and polytropic retrovirus receptor XPR1 9213 ENSG00000143324 Basal ganglia calcification, idiopathic, 6, 616413 (3), Autosomal dominant Xpr1 (MGI:97932)
chr1 180972711 181023120 1q25.3 1q25.3 603944 STX6 Syntaxin 6 STX6 10228 ENSG00000135823 Stx6 (MGI:1926235)
chr1 181033391 181061937 1q25.3 1q25.3 600764 MR1, HLALS Major histocompatibility complex, class I-related MR1 3140 ENSG00000153029 Mr1 (MGI:1195463)
chr1 181088501 181090842 1q25.3 1q25.3 607177 IER5 Immediate-early response gene 5 IER5 51278 ENSG00000162783 Ier5 (MGI:1337072)
chr1 181317711 181808083 1q25-q31 1q25.3 601013 CACNA1E, CACNL1A6 Calcium channel, voltage-dependent, alpha 1E subunit CACNA1E 777 ENSG00000198216 Cacna1e (MGI:106217)
chr1 182378092 182392205 1q31 1q25.3 138290 GLUL, GLNS Glutamate-ammonia ligase (glutamine synthase) GLUL 2752 ENSG00000135821 pseudogene on chr.9 Glutamine deficiency, congenital, 610015 (3), Autosomal recessive Glul (MGI:95739)
chr1 182447875 182560596 1q25 1q25.3 611012 RGSL1 Regulator of G protein signaling-like 1 RGSL1 353299 ENSG00000121446 Rgsl1 (MGI:2685048)
chr1 182573633 182589284 1q25 1q25.3 180435 RNASEL, RNS4, PRCA1, HPC1 Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) RNASEL 6041 ENSG00000135828 Prostate cancer 1, 601518 (3), Autosomal dominant Rnasel (MGI:1098272)
chr1 182598622 182604412 1q25-q31 1q25.3 602514 RGS16 Regulator of G protein signaling-16 RGS16 6004 ENSG00000143333 Rgs16 (MGI:108407)
chr1 182789448 182830383 1q25 1q25.3 611412 NPL, C1orf13, C112 N-acetylneuraminate pyruvate lyase NPL 80896 ENSG00000135838 Npl (MGI:1921341)
chr1 182839303 182887981 1q25 1q25.3 603115 DHX9, DDX9, NDHII DEAH (Asp-Glu-Ala-His) box polypeptide 9 DHX9 1660 ENSG00000135829 Dhx9 (MGI:108177)
chr1 183023459 183145591 1q31 1q25.3 150290 LAMC1, LAMB2 Laminin, gamma-1 (formerly LAMB2) LAMC1 3915 ENSG00000135862 at least 3 genes, ?linked Lamc1 (MGI:99914)
chr1 183186038 183245126 1q25-q31 1q25.3 150292 LAMC2, LAMNB2, LAMB2T Laminin, gamma-2 (nicein, 100kD; kalinin, 105kD; BM600, 100kD) LAMC2 3918 ENSG00000058085 Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive Lamc2 (MGI:99913)
chr1 183248236 183418498 1q25.3 1q25.3 608701 NMNAT2, PNAT2, KIAA0479 Nicotinamide nucleotide adenylyltransferase 2 NMNAT2 23057 ENSG00000157064 Nmnat2 (MGI:2444155)
chr1 183471992 183554192 1q25 1q25.3 610964 SMG7, EST1C, KIAA0250 SMG7, C. elegans, homolog of SMG7 9887 ENSG00000116698 Smg7 (MGI:2682334)
chr1 183555561 183590920 1q25 1q25.3 608515 NCF2 Neutrophil cytosolic factor-2, 65kD NCF2 4688 ENSG00000116701 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3), Autosomal recessive Ncf2 (MGI:97284)
chr1 183626192 183635940 1q25.3 1q25.3 604227 ARPC5, ARC16 Actin-related protein 2/3 complex, subunit 5 ARPC5 10092 ENSG00000162704 Arpc5 (MGI:1915021)
chr1 183636046 183928550 1q25.3 1q25.3 605667 RGL1, RGL Ral guanine nucleotide dissociation stimulator-like 1 RGL1 23179 ENSG00000143344 Rgl1 (MGI:107484)
chr1 183646274 183653312 1q25.3 1q25.3 609908 APOBEC4 Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 4 APOBEC4 403314 ENSG00000173627 Apobec4 (MGI:1918531)
chr1 184051650 184095845 1q25 1q25.3 608756 TSEN15, SEN15, C1orf19, PCH2F tRNA splicing endonuclease 15, S. cerevisiae, homolog of TSEN15 116461 ENSG00000198860 Pontocerebellar hypoplasia, type 2F, 617026 (3), Autosomal recessive Tsen15 (MGI:1913887)
chr1 185045418 185102607 1q25.3 1q25.3 608985 RNF2, RING2, RING1B, HIPI3, DING, BAP1 RING finger protein 2 RNF2 6045 ENSG00000121481 Rnf2 (MGI:1101759)
chr1 185118084 185157097 1q25 1q25.3 611673 TRMT1L, C1orf25, TRM1L tRNA methyltransferase 1-like TRMT1L 81627 ENSG00000121486 Trmt1l (MGI:1916185)
chr1 185292366 185317328 1q25.3 1q25.3 609209 IVNS1ABP, NS1BP, ND1 Influenza virus NS1A protein-binding protein IVNS1ABP 10625 ENSG00000116679 Ivns1abp (MGI:2152389)
chr1 185734524 186190952 1q24-q25 1q25.3-q31.1 608548 HMCN1, FBLN6, FIBL6, ARMD1 Hemicentin (fibulin 6) HMCN1 83872 ENSG00000143341 {Macular degeneration, age-related, 1}, 603075 (3), Autosomal dominant Hmcn1 (MGI:2685047)
chr1 185800000 198700000 1q31 120502 BOS2 Branchiootic syndrome 2 64585 Branchiootic syndrome 2, 120502 (2), Autosomal dominant
chr1 185800000 198700000 1q31 612005 CELIAC7 Celiac disease, susceptibility to, 7 100301522 associated with rs2816316 {Celiac disease, susceptibility to, 7}, 612005 (2)
chr1 185800000 198700000 1q31 607516 MGR6, FHM3 Migraine, several forms 317773 {Migraine with or without aura, susceptibility to, 6}, 607516 (2), Autosomal dominant; {Migraine, familial hemiplegic, 4}, 607516 (2), Autosomal dominant
chr1 185800000 236400000 1q31-q42 145260 PHA2A, PHA2 Pseudohypoaldosteronism type IIA 7830 Pseudohypoaldosteronism, type IIA, 145260 (2), Autosomal dominant
chr1 185800000 190800000 1q31.1 609454 PSNP2 Supranuclear palsy, progressive, 2 619408 between D1S238 and D1S2823 Supranuclear palsy, progressive, 2, 609454 (2), Autosomal dominant
chr1 185800000 198700000 1q31 176780 PVOP1 Pelvic organ prolapse, susceptibility to, 1 100312952 associated with rs10911193 {Pelvic organ prolapse, susceptibility to, 1}, 176780 (2), Autosomal dominant
chr1 186296272 186314561 1q24-q25 1q31.1 604283 PRG4, CACP, MSF, SZP, HAPO Proteoglycan 4 (megakaryocyte stimulating factor; hemangiopoietin) PRG4 10216 ENSG00000116690 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3), Autosomal recessive
chr1 186311651 186375324 1q25 1q31.1 189940 TPR Tumor potentiating region (translocated promoter region) TPR 7175 ENSG00000047410 fused with MET in chemically induced tumor Tpr (MGI:1922066)
chr1 186443565 186461107 1q25-q31.1 1q31.1 171490 PDC Phosducin, pineal gland PDC 5132 ENSG00000116703 Pdc (MGI:98090)
chr1 186671811 186680426 1q25.2-q25.3 1q31.1 600262 PTGS2 Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) PTGS2 5743 ENSG00000073756 Ptgs2 (MGI:97798)
chr1 186680653 186681445 1q31.1 1q31.1 617650 PACERR, PTGS2AS1 PTGS2 antisense NFKB1 complex-mediated expression regulator RNA, noncoding PACERR 103752588
chr1 186828899 186988980 1q25 1q31.1 600522 PLA2G4A, PLA2G4 Phospholipase A2, group IVA, cytosolic PLA2G4A 5321 ENSG00000116711 Phospholipase A2, group IV A, deficiency of (3) Pla2g4a (MGI:1195256)
chr1 192316991 192367284 1q31.2 1q31.2 612407 RGS21 Regulator of G protein signaling 21 RGS21 431704 ENSG00000253148 Rgs21 (MGI:3645243)
chr1 192575726 192580028 1q31 1q31.2 600323 RGS1, IER1, IR20 Regulator of G-protein signaling 1 RGS1 5996 ENSG00000090104 Rgs1 (MGI:1354694)
chr1 192809038 192812276 1q31 1q31.2 600861 RGS2, G0S8 G0 to G1 switch regulatory 8, 24kD RGS2 5997 ENSG00000116741 Rgs2 (MGI:1098271)
chr1 193012252 193060139 1q32 1q31.2 610667 UCHL5, UCH37 Ubiquitin carboxyl-terminal hydrolase L5 UCHL5 51377 ENSG00000116750 Uchl5 (MGI:1914848)
chr1 193059421 193091776 1q31 1q31.2 600063 TROVE2, RO60, SSA2 TROVE domain family, member 2 TROVE2 6738 ENSG00000116747 Trove2 (MGI:106652)
chr1 193096464 193106534 1q31.2-q31.3 1q31.2 606820 GLRX2, GRX2 Glutaredoxin 2 GLRX2 51022 ENSG00000023572 Glrx2 (MGI:1916617)
chr1 193121957 193254814 1q25-q31 1q31.2 607393 CDC73, HRPT2, C1orf28 Cell division cycle protein 73, S. cerevisiae, homolog of CDC73 79577 ENSG00000134371 Hyperparathyroidism, familial primary, 145000 (3), Autosomal dominant; Hyperparathyroidism-jaw tumor syndrome, 145001 (3), Autosomal dominant; Parathyroid adenoma with cystic changes, 145001 (3), Autosomal dominant; Parathyroid carcinoma, 608266 (3) Cdc73 (MGI:2384876)
chr1 193178729 193186612 1q31 1q31.2 603018 B3GALT2, GLCT2 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 2 B3GALT2 8707 ENSG00000162630 B3galt2 (MGI:1349461)
chr1 193800000 207100000 1q31.3-q32.1 614826 NYS7 Nystagmus 7, congenital, autosomal dominant 101055624 between D1S218 and D1S2655 Nystagmus 7, congenital, autosomal dominant, 614826 (2), Autosomal dominant
chr1 196225778 196608575 1q31.3 1q31.3 610044 KCNT2, SLICK, EIEE57 Potassium channel, subfamily T, member 2 KCNT2 343450 ENSG00000162687 mutation identified in 1 EIEE57 patient ?Epileptic encephalopathy, early infantile, 57, 617771 (3), Autosomal dominant Kcnt2 (MGI:3036273)
chr1 196651877 196747503 1q32 1q31.3 134370 CFH, HF1, HUS, ARMD4, AHUS1 Complement factor H CFH 3075 ENSG00000000971 Basal laminar drusen, 126700 (3), Autosomal dominant; Complement factor H deficiency, 609814 (3), Autosomal recessive, Autosomal dominant; {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3), Autosomal recessive, Autosomal dominant; {Macular degeneration, age-related, 4}, 610698 (3) Cfh (MGI:88385)
chr1 196774799 196794072 1q31-q32.1 1q31.3 605336 CFHR3, FHR3, HLF4, CFHL3 Complement factor H-related 3 CFHR3 10878 ENSG00000116785 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal recessive, Autosomal dominant; {Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant
chr1 196819729 196832188 1q31-q32.1 1q31.3 134371 CFHR1, FHR1, HFL1, CFHL1 Complement factor H-related 1 CFHR1 3078 ENSG00000244414 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal recessive, Autosomal dominant; {Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant Cfhr1 (MGI:2138169)
chr1 196888013 196918910 1q31-q32.1 1q31.3 605337 CFHR4, FHR4, CFHL4 Complement factor H-related 4 CFHR4 10877 ENSG00000134365
chr1 196943751 196959327 1q31-q32.1 1q31.3 600889 CFHR2, FHR2, HFL3, CFHL2 Complement factor H-related 2 CFHR2 3080 ENSG00000080910 in same 165kb YAC as F13B
chr1 196975021 197009724 1q32 1q31.3 608593 CFHR5, CFHL5, FHR5, CFHR5D Complement factor H-related 5 CFHR5 81494 ENSG00000134389 Nephropathy due to CFHR5 deficiency, 614809 (3), Autosomal dominant
chr1 197038740 197067266 1q31-q32.1 1q31.3 134580 F13B Coagulation factor XIII, B polypeptide F13B 2165 ENSG00000143278 Factor XIIIB deficiency, 613235 (3), Autosomal recessive F13b (MGI:88379)
chr1 197084126 197146693 1q31 1q31.3 605481 ASPM, MCPH5 Abnormal spindle-like, microcephaly-associated ASPM 259266 ENSG00000066279 Microcephaly 5, primary, autosomal recessive, 608716 (3), Autosomal recessive Aspm (MGI:1334448)
chr1 197201461 197478454 1q31-q32.1 1q31.3 604210 CRB1, RP12, LCA8 Crumbs, Drosophila, homolog of, 1 CRB1 23418 ENSG00000134376 Leber congenital amaurosis 8, 613835 (3); Pigmented paravenous chorioretinal atrophy, 172870 (3), Autosomal dominant; Retinitis pigmentosa-12, autosomal recessive, 600105 (3), Autosomal recessive Crb1 (MGI:2136343)
chr1 197504747 197782137 1q31.3 1q31.3 613292 DENND1B, FAM31B, C1orf18 DENN/MADD domain-containing 1B DENND1B 163486 ENSG00000213047 Dennd1b (MGI:2447812)
chr1 197912504 197935475 1q31-q32 1q31.3 606066 LHX9 LIM homeo box gene 9 LHX9 56956 ENSG00000143355 Lhx9 (MGI:1316721)
chr1 198156977 198322419 1q31.3 1q31.3 606848 NEK7 Never-in-mitosis gene A-related kinase 7 NEK7 140609 ENSG00000151414 Nek7 (MGI:1890645)
chr1 198638967 198757475 1q31-q32 1q31.3-q32.1 151460 PTPRC, CD45, LCA Protein tyrosine phosphatase, receptor type, c polypeptide PTPRC 5788 ENSG00000081237 {Hepatitis C virus, susceptibility to}, 609532 (3); Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3), Autosomal recessive Ptprc (MGI:97810)
chr1 198700000 214400000 1q32 137950 GFND1 Glomerulopathy with fibronectin deposits 1 100689213 max lod at D1S2782 Glomerulopathy with fibronectin deposits 1, 137950 (2), Autosomal dominant
chr1 198700000 236400000 1q32.1-q42 139280 GUK2 Guanylate kinase-2 GUK2 2988 genetic independence of GUK1 and GUK2 unproved
chr1 198700000 207100000 1q32.1 612381 IBD23 Inflammatory bowel disease 23 100240733 associated with rs3024505 {Inflammatory bowel disease 23}, 612381 (2)
chr1 198700000 214400000 1q32 613164 PARK16 Parkinson disease 16 PARK16 100359403 associated with rs823128 {Parkinson disease 16}, 613164 (2)
chr1 198700000 214400000 1q32 140400 PFHB2 Progressive familial heart block, type II 105463127 between D1S70 and D1S505 Progressive familial heart block, type II, 140400 (2), Autosomal dominant
chr1 198858872 198858981 1q31.3 1q32.1 612744 MIR181B1, MIRN181B1 Micro RNA 181B1 MIR181B1 406955
chr1 198859043 198859152 1q31.3 1q32.1 612742 MIR181A1, MIR213, MIRN181A1 Micro RNA 181A1 MIR181A1 406995
chr1 200027601 200177423 1q32.1 1q32.1 604453 NR5A2, FTF, HB1F Nuclear receptor subfamily 5, group A, member 2 (fetoprotein transcription factor) NR5A2 2494 ENSG00000116833 Nr5a2 (MGI:1346834)
chr1 200551496 200620790 1q31 1q32.1 611279 KIF14, KIAA0042, MKS12, MCPH20 Kinesin family member 14 KIF14 9928 ENSG00000118193 mutation identified in 1 MKS12 family ?Meckel syndrome 12, 616258 (3), Autosomal recessive; Microcephaly 20, primary, autosomal recessive, 617914 (3), Autosomal recessive Kif14 (MGI:1098226)
chr1 200640806 200669997 1q32.1 1q32.1 615464 DDX59, OFD5 DEAD box polypeptide 59 DDX59 83479 ENSG00000118197 Orofaciodigital syndrome V, 174300 (3), Autosomal recessive Ddx59 (MGI:1915247)
chr1 200738904 200860706 1q32.1 1q32.1 613775 CAMSAP1L, CAMSAP2, KIAA1078 Calmodulin-regulated spectrin-associated protein 1-like 1 CAMSAP2 23271 ENSG00000118200 Camsap2 (MGI:1922434)
chr1 200872954 200874177 1q32.1 1q32.1 602174 GPR25 G protein-coupled receptor-25 GPR25 2848 ENSG00000170128 Gpr25 (MGI:2686146)
chr1 200969385 201023699 1q31-q32 1q32.1 608322 KIF21B, KIAA0449 Kinesin family member 21B KIF21B 23046 ENSG00000116852 Kif21b (MGI:109234)
chr1 201039508 201112565 1q32 1q32.1 114208 CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1 Calcium channel, voltage-dependent, L type, alpha 1S subunit CACNA1S 779 ENSG00000081248 in mouse, mutation causes muscular dysgenesis Hypokalemic periodic paralysis, type 1, 170400 (3), Autosomal dominant; {Malignant hyperthermia susceptibility 5}, 601887 (3), Autosomal dominant; {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3), Isolated cases Cacna1s (MGI:88294)
chr1 201134770 201171624 1q41 1q32.1 616877 TMEM9, TMEM9A, DERM4 Transmembrane protein 9 TMEM9 252839 ENSG00000116857 Tmem9 (MGI:1913491)
chr1 201190779 201228951 1q32.1 1q32.1 617309 IGFN1, EEF1A2BP1 Immunoglobulin-like and fibronectin type III domains-containing protein 1 IGFN1 91156 ENSG00000163395 Igfn1 (MGI:3045352)
chr1 201283451 201332992 1q32 1q32.1 601975 PKP1 Plakophilin-1 PKP1 5317 ENSG00000081277 Ectodermal dysplasia/skin fragility syndrome, 604536 (3) Pkp1 (MGI:1328359)
chr1 201359007 201377827 1q32 1q32.1 191045 TNNT2, CMH2, CMD1D, RCM3, LVNC6 Troponin-T2, cardiac TNNT2 7139 ENSG00000118194 Cardiomyopathy, dilated, 1D, 601494 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 3, 612422 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 2, 115195 (3), Autosomal dominant; Left ventricular noncompaction 6, 601494 (3), Autosomal dominant Tnnt2 (MGI:104597)
chr1 201380837 201399540 1q25.1-q32.3 1q32.1 602314 LAD1 Ladinin LAD1 3898 ENSG00000159166 Lad1 (MGI:109343)
chr1 201403766 201421745 1q31.3 1q32.1 191042 TNNI1 Troponin-I, skeletal, slow TNNI1 7135 ENSG00000159173 Tnni1 (MGI:105073)
chr1 201464283 201469170 1q31 1q32.1 607054 PHLDA3, TIH1 Pleckstrin homology-like domain, family A, member 3 PHLDA3 23612 ENSG00000174307 Phlda3 (MGI:1351485)
chr1 201483529 201507258 1q32 1q32.1 123876 CSRP1, CSRP Cysteine and glycine-rich protein-1 CSRP1 1465 ENSG00000159176 Csrp1 (MGI:88549)
chr1 201539126 201826973 1q31 1q32.1 611628 NAV1, POMFIL3, KIAA1151 Neuron navigator 1 NAV1 89796 ENSG00000134369 Nav1 (MGI:2183683)
chr1 201808610 201808701 1q32.1 1q32.1 617040 MIR1231 Micro RNA 1231 MIR1231 100302158
chr1 201888668 201899507 1q32.1 1q32.1 617326 SHISA4, C1orf40, TMEM58 Shisa family, member 4 SHISA4 149345 ENSG00000198892 Shisa4 (MGI:1924802)
chr1 201896455 201946587 1q32 1q32.1 602715 LMOD1, SMLMOD, 1D Leiomodin 1 LMOD1 25802 ENSG00000163431 Lmod1 (MGI:2135671)
chr1 201955490 201970660 1q32 1q32.1 605057 TIMM17A, TIM17A Translocase of inner mitochondrial membrane 17, yeast, homolog of, A TIMM17A 10440 ENSG00000134375 Timm17a (MGI:1343131)
chr1 201982637 202006146 1q32.1-q32.2 1q32.1 602675 RNPEP Arginyl aminopeptidase (aminopeptidase B) RNPEP 6051 ENSG00000176393 Rnpep (MGI:2384902)
chr1 202010561 202017187 1q32 1q32.1 602191 ELF3, ESX E74-like factor 3 (ETS domain transcription factor, serine box, epithelial-specific) ELF3 1999 ENSG00000163435 Elf3 (MGI:1101781)
chr1 202118668 202133587 1q32.1 1q32.1 617630 GPR37L1, ETBRLP2 G protein-coupled receptor 37-like 1 GPR37L1 9283 ENSG00000170075 Gpr37l1 (MGI:1928503)
chr1 202133403 202144742 1q32.1 1q32.1 616597 ARL8A, GIE2 ADP-ribosylation factor-like 8A ARL8A 127829 ENSG00000143862 Arl8a (MGI:1915974)
chr1 202147011 202161587 1q32.1 1q32.1 176889 PTPN7 Protein tyrosine phosphatase, nonreceptor-type, 7 PTPN7 5778 ENSG00000143851 Ptpn7 (MGI:2156893)
chr1 202193989 202319760 1q32 1q32.1 606653 LGR6 Leucine-rich repeat-containing G protein-coupled receptor-6 LGR6 59352 ENSG00000133067 Lgr6 (MGI:2441805)
chr1 202331656 202341965 1q31 1q32.1 610538 UBE2T, HSPC150, FANCT Ubiquitin-conjugating enzyme E2T UBE2T 29089 ENSG00000077152 Fanconi anemia, complementation group T, 616435 (3), Autosomal recessive Ube2t (MGI:1914446)
chr1 202348701 202588568 1q32.1 1q32.1 603768 PPP1R12B, MYPT2 Protein phosphatase 1, regulatory subunit 12B (myosin phosphatase target subunit 2) PPP1R12B 4660 ENSG00000077157
chr1 202590595 202710443 1q32.1 1q32.1 600104 SYT2, CMS7, MYSPC Synaptotagmin-2 SYT2 127833 ENSG00000143858 Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3), Autosomal dominant Syt2 (MGI:99666)
chr1 202725184 202809469 1q32 1q32.1 605393 KDM5B, JARID1B, PUT1, PLU1, RBBP2H1A Lysine-specific demethylase 5B KDM5B 10765 ENSG00000117139 Kdm5b (MGI:1922855)
chr1 202878281 202889256 1q32-q41 1q32.1 603417 RABIF, RASGFR3, MSS4 Rab-interacting factor (Ras-specific guanine-releasing factor-3; mammalian suppressor of SEC4) RABIF 5877 ENSG00000183155 Rabif (MGI:2138605)
chr1 202891095 202928643 1q32.1 1q32.1 614522 KLHL12, DKIR Kelch-like 12 KLHL12 59349 ENSG00000117153 Klhl12 (MGI:2385619)
chr1 202940824 202958571 1q32.1 1q32.1 607945 ADIPOR1, CGI45 Adiponectin receptor 1 ADIPOR1 51094 ENSG00000159346 Adipor1 (MGI:1919924)
chr1 202961872 202967275 1q32 1q32.1 608341 CYB5BR1, NQO3A2, B5R.1 Cytochrome b5 reductase 1 CYB5R1 51706 ENSG00000159348 Cyb5r1 (MGI:1919267)
chr1 203026490 203078735 1q32.1 1q32.1 603145 PPFIA4 Protein-tyrosine phosphatase, receptor-type, F polypeptide-interacting protein alpha 4 PPFIA4 8497 ENSG00000143847
chr1 203083128 203086037 1q31-q41 1q32.1 159980 MYOG, MYF4 Myogenic factor-4; myogenin MYOG 4656 ENSG00000122180 Myog (MGI:97276)
chr1 203127704 203167404 1q32.1 1q32.1 102775 ADORA1, RDC7 Adenosine A1 receptor ADORA1 134 ENSG00000163485 Adora1 (MGI:99401)
chr1 203167810 203175813 1q32.1 1q32.1 160795 MYBPH Myosin-binding protein H MYBPH 4608 ENSG00000133055 Mybph (MGI:1858196)
chr1 203178930 203186793 1q32.1 1q32.1 601525 CHI3L1, GP39, YKL40, ASRT7 Chitinase 3-like 1 (cartilage glycoprotein-39) CHI3L1 1116 ENSG00000133048 {Asthma-related traits, susceptibility to, 7}, 611960 (3); {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant Chil1 (MGI:1340899)
chr1 203216078 203229731 1q31-q32 1q32.1 600031 CHIT, CHITD Chitotriosidase CHIT1 1118 ENSG00000133063 [Chitotriosidase deficiency], 614122 (3), Autosomal recessive Chit1 (MGI:1919134)
chr1 203305535 203309601 1q32 1q32.1 601597 BTG2, PC3 B-cell translocation gene 2 (pheochromocytoma cell-3) BTG2 7832 ENSG00000159388 Btg2 (MGI:108384)
chr1 203340620 203351428 1q32.1 1q32.1 600245 FMOD Fibromodulin FMOD 2331 ENSG00000122176 Fmod (MGI:1328364)
chr1 203475754 203491351 1q32 1q32.1 601914 PRELP Proline arginine-rich end leucine-rich repeat protein PRELP 5549 ENSG00000188783 Prelp (MGI:2151110)
chr1 203626786 203744080 1q25-q32 1q32.1 108732 ATP2B4, ATP2B2, PMCA4 ATPase, Ca++ transporting, plasma membrane, 4 ATP2B4 493 ENSG00000058668 Atp2b4 (MGI:88111)
chr1 203795536 203854127 1q32.1 1q32.1 613513 ZC3H11A, KIAA0663 Zinc finger CCCH domain-containing protein 11A ZC3H11A 9877 ENSG00000257315 Zc3h11a (MGI:1917829)
chr1 203797522 203801073 1q32.1 1q32.1 613512 ZBED6 Zinc finger BED domain-containing protein 6 ZBED6 100381270 ENSG00000257315 in intron 1 of ZC3H11A Zbed6 (MGI:3828086)
chr1 203861584 203871151 1q32 1q32.1 128260 SNRPE, HYPT11 Small nuclear ribonucleoprotein polypeptide E SNRPE 6635 ENSG00000182004 Hypotrichosis 11, 615059 (3), Autosomal dominant Snrpert (MGI:3650419)
chr1 204073095 204127742 1q32 1q32.1 604748 SOX13, ICA12 SRY-box 13 SOX13 9580 ENSG00000143842 Sox13 (MGI:98361)
chr1 204131060 204152181 1q32.1 1q32.1 609859 ETNK2, EKI2 Ethanolamine kinase 2 ETNK2 55224 ENSG00000143845 Etnk2 (MGI:2443760)
chr1 204154815 204166336 1q32 1q32.1 179820 REN, HNFJ2 Renin REN 5972 ENSG00000143839 ~24cM distal to AT3 [Hyperproreninemia] (3); Hyperuricemic nephropathy, familial juvenile 2, 613092 (3), Autosomal dominant; Renal tubular dysgenesis, 267430 (3), Autosomal recessive Ren1 (MGI:97898)
chr1 204190340 204196490 1q32 1q32.1 603286 KISS1, HH13 KISS1 metastasis suppressor KISS1 3814 ENSG00000170498 mutation identified in 1 HH13 family ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3), Autosomal recessive Kiss1 (MGI:2663985)
chr1 204218850 204378376 1q32.1 1q32.1 607771 PEPP3, KIAA0969 Phosphatidylinositol 3-phosphate-binding PH domain protein 3 PLEKHA6 22874 ENSG00000143850
chr1 204398683 204412453 1q32.1 1q32.1 613257 PPP1R15B, CREP, MSSGM2 Protein phosphatase 1, regulatory subunit 15B PPP1R15B 84919 ENSG00000158615 Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3), Autosomal recessive Ppp1r15b (MGI:2444211)
chr1 204422629 204494814 1q32 1q32.1 602838 PIK3C2B Phosphatidylinositol 3-kinase, class 2, beta polypeptide PIK3C2B 5287 ENSG00000133056 Pik3c2b (MGI:2685045)
chr1 204516376 204558119 1q32 1q32.1 602704 MDM4 Mouse double minute 4, homolog of MDM4 4194 ENSG00000198625 Mdm4 (MGI:107934)
chr1 204617169 204685835 1q32.1 1q32.1 605492 GAC1 Glioma amplification on chromosome 1 LRRN2 10446 ENSG00000170382 Lrrn2 (MGI:106037)
chr1 204828651 205022821 1q32.1 1q32.1 609145 NFASC, KIAA0756 Neurofascin NFASC 23114 ENSG00000163531 Nfasc (MGI:104753)
chr1 205042936 205078271 1q32.1 1q32.1 190197 CNTN2, TAX, TAX1, FAME5 Contactin 2 (transiently-expressed axonal glycoprotein) CNTN2 6900 ENSG00000184144 1 family identified with mutation ?Epilepsy, myoclonic, familial adult, 5, 615400 (3), Autosomal recessive Cntn2 (MGI:104518)
chr1 205086141 205122021 1q32 1q32.1 600697 RBBP5, RBQ3 Retinoblastoma-binding protein-5 RBBP5 5929 ENSG00000117222 Rbbp5 (MGI:1918367)
chr1 205142496 205211598 1q32.1 1q32.1 612666 DSTYK, KIAA0472, RIP5, DUSTYPK, CAKUT1, SPG23 Dual serine/threonine and tyrosine protein kinase DSTYK 25778 ENSG00000133059 Congenital anomalies of kidney and urinary tract 1, 610805 (3), Autosomal dominant; Spastic paraplegia 23, 270750 (3), Autosomal recessive Dstyk (MGI:1925064)
chr1 205302058 205321790 1q32 1q32.1 608131 NUAK2, SNARK NUAK family, SNF1-like kinase, 2 NUAK2 81788 ENSG00000163545 Nuak2 (MGI:1921387)
chr1 205336063 205357089 1q32.1 1q32.1 614503 KLHDC8A Kelch domain-containing protein 8A KLHDC8A 55220 ENSG00000162873 Klhdc8a (MGI:2442630)
chr1 205381377 205449955 1q32.1 1q32.1 610480 LEMD1 LEM domain-containing protein 1 LEMD1 93273 ENSG00000186007
chr1 205434885 205456085 1q32.1 1q32.1 615480 BLACAT1, LINC00912 Bladder cancer-associated transcript 1, noncoding BLACAT1 101669762
chr1 205504555 205532792 1q31-q32 1q32.1 169190 CDK18, PCTK3 Cyclin-dependent kinase 18 CDK18 5129 ENSG00000117266 Cdk18 (MGI:97518)
chr1 205607942 205632871 1q32 1q32.1 600246 ELK4, SAP1 ELK4, ETS-domain protein (SRF accessory protein 1) ELK4 2005 ENSG00000158711 Elk4 (MGI:102853)
chr1 205657852 205680501 1q32.1 1q32.1 605097 SLC45A3, PRST, PCANAP6, IPCA6 Solute carrier family 45, member 3 (prostein) SLC45A3 85414 ENSG00000158715 Slc45a3 (MGI:1922082)
chr1 205712818 205750243 1q32.1 1q32.1 611912 NUCKS1, NUCKS Nuclear casein kinase and cyclin-dependent kinase substrate 1 NUCKS1 64710 ENSG00000069275 Nucks1 (MGI:1934811)
chr1 205767985 205775486 1q32 1q32.1 603949 RAB7L1 RAB7-like 1 RAB29 8934 ENSG00000117280 Rab29 (MGI:2385107)
chr1 205789092 205813758 1q31-q32 1q32.1 610801 SLC41A1 Solute carrier family 41, member 1 SLC41A1 254428 ENSG00000133065 Slc41a1 (MGI:2444823)
chr1 205813810 205850147 1q32.1 1q32.1 617124 PM20D1 Peptidase M20 domain-containing protein 1 PM20D1 148811 ENSG00000162877 Pm20d1 (MGI:2442939)
chr1 205913047 205943471 1q32.1 1q32.1 608481 SLC26A9 Solute carrier family 26 (sulfate transporter), member 9 SLC26A9 115019 ENSG00000174502 Slc26a9 (MGI:2444594)
chr1 206009263 206023908 1q31 1q32.1 116890 CTSE Cathepsin E CTSE 1510 ENSG00000196188 closely linked to REN Ctse (MGI:107361)
chr1 206052722 206102700 1q32.1 1q32.1 616088 C1orf186, RHEX Chromosome 1 open reading frame 186 RHEX 440712 ENSG00000263961
chr1 206106935 206117049 1q32 1q32.1 600264 AVPR1B, AVPR3 Arginine vasopressin receptor-1B AVPR1B 553 ENSG00000198049 Avpr1b (MGI:1347010)
chr1 206186178 206205345 1q32 1q32.1 614710 FAM72A, LMPIP, UGENE Family with sequence similarity 72, member A FAM72A 729533 ENSG00000196550 Fam72a (MGI:1919669)
chr1 206203555 206464442 1q32.1 1q32.1 606524 SRGAP2, KIAA0456 Slit-robo GTPase-activating protein, rho, 2 SRGAP2 23380 ENSG00000266028 Srgap2 (MGI:109605)
chr1 206470242 206496889 1q32.1 1q32.1 605048 IKBKE I-kappa-B kinase-epsilon IKBKE 9641 ENSG00000263528 Ikbke (MGI:1929612)
chr1 206507529 206589283 1q32.1 1q32.1 607020 RASSF5, NORE1 Ras association (RalGDS/AF-6) domain family 5 (Nore1, mouse, homolog of) RASSF5 83593 ENSG00000266094 Rassf5 (MGI:1926375)
chr1 206572483 206612550 1q32.1 1q32.1 613709 EIF2D, HCA56 Eukaryotic translation initiation factor 2D EIF2D 1939 ENSG00000143486 Eif2d (MGI:109342)
chr1 206635535 206655157 1q32.2 1q32.1 603497 DYRK3 Dual-specificity tyrosine phosphorylation-regulated kinase 3 DYRK3 8444 ENSG00000143479 Dyrk3 (MGI:1330300)
chr1 206684911 206734284 1q32.1 1q32.1 602006 MAPKAPK2, MK2 Mitogen-activated protein kinase-activated protein kinase 2 MAPKAPK2 9261 ENSG00000162889 Mapkapk2 (MGI:109298)
chr1 206767602 206772493 1q31-q32 1q32.1 124092 IL10, CSIF, GVHDS Interleukin-10 IL10 3586 ENSG00000136634 {Graft-versus-host disease, protection against}, 614395 (3); {HIV-1, susceptibility to}, 609423 (3); {Rheumatoid arthritis, progression of}, 180300 (3) Il10 (MGI:96537)
chr1 206798869 206842980 1q32 1q32.1 605687 IL19 Interleukin 19 IL19 29949 ENSG00000142224 Il19 (MGI:1890472)
chr1 206865246 206869222 1q32 1q32.1 605619 IL20 Interleukin 20 IL20 50604 ENSG00000162891 Il20 (MGI:1890473)
chr1 206897403 206904138 1q32 1q32.1 604136 IL24, ST16, MDA7 Interleukin 24 (suppression of tumorigenicity 16) IL24 11009 ENSG00000162892 Il24 (MGI:2135548)
chr1 206903281 206922032 1q32.2 1q32.1 606015 FAIM3, TOSO, FCMR Fas apoptotic inhibitory molecule 3 FCMR 9214 ENSG00000162894 Fcmr (MGI:1916419)
chr1 206928521 206946465 1q31-q42 1q32.1 173880 PIGR Polymeric immunoglobulin receptor PIGR 5284 ENSG00000162896 Pigr (MGI:103080)
chr1 206957954 206970656 1q32.3 1q32.1 605484 FCAMR Fc fragment of IgA and IgM, receptor for FCAMR 83953 ENSG00000162897 Fcamr (MGI:1927803)
chr1 207018520 207032760 1q32.2 1q32.1 611680 SARG, C1orf116 Specifically androgen-regulated gene C1orf116 79098 ENSG00000182795 AA986860 (MGI:2138143)
chr1 207043848 207052979 1q32.1 1q32.1 612023 YOD1, OTUD2, DUBA8 YOD1 OTU deubiquitinating enzyme 1, S. cerevisiae, homolog of YOD1 55432 ENSG00000180667 Yod1 (MGI:2442596)
chr1 207053062 207081022 1q31 1q32.1 171835 PFKFB2 Fructose-2,6-bisphosphatase, cardiac isozyme PFKFB2 5208 ENSG00000123836 Pfkfb2 (MGI:107815)
chr1 207088794 207099992 1q32 1q32.1 120831 C4BPB Complement component 4-binding protein, beta polypeptide C4BPB 725 ENSG00000123843
chr1 207104231 207144971 1q32 1q32.2 120830 C4BPA Complement component 4-binding protein, alpha polypeptide C4BPA 722 ENSG00000123838 same RE fragment as C4BPB
chr1 207321471 207360965 1q32 1q32.2 125240 CD55, DAF, CROM, CHAPLE CD55 antigen (blood group Cromer) CD55 1604 ENSG00000196352 [Blood group Cromer], 613793 (3), Autosomal recessive; Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive Cd55,Cd55b (MGI:104850,MGI:104849)
chr1 207454299 207489894 1q32 1q32.2 120650 CR2, C3DR, SLEB9, CVID7 Complement component (3d/Epstein-Barr virus) receptor-2 CR2 1380 ENSG00000117322 Immunodeficiency, common variable, 7, 614699 (3), Autosomal recessive; {Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3) Cr2 (MGI:88489)
chr1 207496127 207641764 1q32 1q32.2 120620 CR1, C3BR Complement component (3b/4b) receptor-1 CR1 1378 ENSG00000203710 [Blood group, Knops system], 607486 (3); CR1 deficiency (1); {Malaria, severe, resistance to}, 611162 (3); {?SLE susceptibility} (1)
chr1 207645112 207723690 1q32 1q32.2 605886 CR1L Complement component receptor 1-like CR1L 1379 ENSG00000197721 Cr1l (MGI:88513)
chr1 207752037 207795515 1q32 1q32.2 120920 MCP, CD46, AHUS2 Membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen) CD46 4179 ENSG00000117335 {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3), Autosomal recessive, Autosomal dominant Cd46 (MGI:1203290)
chr1 207801851 207801938 1q32.2 1q32.2 610784 MIR29C, MIRN29C Micro RNA 29C MIR29C 407026
chr1 207886537 207911337 1q32 1q32.2 142230 CD34 CD34 antigen CD34 947 ENSG00000174059 Cd34 (MGI:88329)
chr1 208022241 208244319 1q32.2 1q32.2 601054 PLXNA2, OCT, PLXN2 Plexin A2 (OCT transmembrane protein) PLXNA2 5362 ENSG00000076356 Plxna2 (MGI:107684)
chr1 209432132 209432241 1q32.2 1q32.2 613147 MIR205, MIRN205 Micro RNA 205 MIR205 406988
chr1 209583699 209613938 1q32-q41 1q32.2 614994 CAMK1G, CLICK3 Calcium/calmodulin-dependent protein kinase IG CAMK1G 57172 ENSG00000008118 Camk1g (MGI:2388073)
chr1 209614869 209652474 1q32 1q32.2 150310 LAMB3, AI1A Laminin, beta-3 (nicein, 125kD; kalinin, 140kD; BM600, 125kD) LAMB3 3914 ENSG00000196878 Amelogenesis imperfecta, type IA, 104530 (3), Autosomal dominant; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive Lamb3 (MGI:99915)
chr1 209675324 209676389 1q32-q41 1q32.2 614447 G0S2 G0/G1 switch gene 2 G0S2 50486 ENSG00000123689 G0s2 (MGI:1316737)
chr1 209686179 209734949 1q32-q41 1q32.2 600713 HSD11B1, HSD11, HSD11L, CORTRD2 Hydroxysteroid, 11-beta, dehydrogenase 1 HSD11B1 3290 ENSG00000117594 digenic triallelic mutations with H6PD Cortisone reductase deficiency 2, 614662 (3), Autosomal dominant Hsd11b1 (MGI:103562)
chr1 209756031 209782322 1q32.3-q41 1q32.2 608255 TRAF3IP3, T3JAM TRAF3-interacting protein 3 TRAF3IP3 80342 ENSG00000009790 Traf3ip3 (MGI:2441706)
chr1 209785622 209806174 1q32-q41 1q32.2 607199 IRF6, VWS, LPS, PIT, PPS1, OFC6 Interferon regulatory factor 6 IRF6 3664 ENSG00000117595 OFC6 in enhancer 5' of IRF6 {Orofacial cleft 6}, 608864 (3), Isolated cases; Popliteal pterygium syndrome 1, 119500 (3), Autosomal dominant; van der Woude syndrome, 119300 (3), Autosomal dominant Irf6 (MGI:1859211)
chr1 209938164 210171314 1q32.2 1q32.2 610949 SYT14, SCAR11 Synaptotagmin 14 SYT14 255928 ENSG00000143469 Spinocerebellar ataxia, autosomal recessive 11, 614229 (3), Autosomal recessive Syt14 (MGI:2444490)
chr1 210327872 210676297 1q32 1q32.2 605743 HHAT, MART2, SKI1 Hedgehog acyltransferase HHAT 55733 ENSG00000054392 Hhat (MGI:2444681)
chr1 210678313 211134114 1q32-q41 1q32.2 603305 KCNH1, EAG, TMBTS, ZLS1 Potassium voltage-gated channel, subfamily H, member 1 (ether-a-go-go, drosophila, homolog of) KCNH1 3756 ENSG00000143473 Temple-Baraitser syndrome, 611816 (3), Autosomal dominant; Zimmermann-Laband syndrome 1, 135500 (3), Autosomal dominant Kcnh1 (MGI:1341721)
chr1 211326593 211374945 1q32 1q32.3 602356 TRAF5 TNF receptor-associated factor 5 TRAF5 7188 ENSG00000082512 Traf5 (MGI:107548)
chr1 211476521 211492916 1q32.3 1q32.3 180040 RD3, LCA12, C1orf36 Retinal degeneration 3, mouse, homolog of RD3 343035 ENSG00000198570 Leber congenital amaurosis 12, 610612 (3), Autosomal recessive Rd3 (MGI:1921273)
chr1 211575038 211578756 1q32.3 1q32.3 609521 SLC30A1, ZNT1 Solute carrier family 30 (zinc transporter), member 1 SLC30A1 7779 ENSG00000170385 Slc30a1 (MGI:1345281)
chr1 211658255 211675629 1q32.2-q41 1q32.3 604043 NEK2, RP67 Never in mitosis gene a-related kinase 2 NEK2 4751 ENSG00000117650 pseudogenes on chr. 2, 14, and 22; mutation identified in 1 family ?Retinitis pigmentosa 67, 615565 (3), Autosomal recessive Nek2 (MGI:109359)
chr1 211940327 212035659 1q32.3 1q32.3 611350 INTS7, INT7 Integrator complex subunit 7 INTS7 25896 ENSG00000143493 Ints7 (MGI:1924315)
chr1 212035552 212105005 1q32.1-q32.2 1q32.3 610617 DTL, RAMP, DCAF2, CDT2 Denticleless, Drosophila, homolog of DTL 51514 ENSG00000143476 Dtl (MGI:1924093)
chr1 212285536 212361862 1q41 1q32.3 601643 PPP2R5A Protein phosphatase-2, regulatory subunit B (B56), alpha isoform PPP2R5A 5525 ENSG00000066027 Ppp2r5a (MGI:2388479)
chr1 212432886 212446378 1q32.3 1q32.3 611874 NENF, CIR2 Neuron-derived neurotrophic factor NENF 29937 ENSG00000117691 Nenf (MGI:1913458)
chr1 212565333 212620776 1q32.3 1q32.3 603148 ATF3 Activating transcription factor 3 ATF3 467 ENSG00000162772 Atf3 (MGI:109384)
chr1 212686416 212699984 1p32.3 1q32.3 612470 BATF3 Basic leucine zipper transcription factor, ATF-like, 3 BATF3 55509 ENSG00000123685 Batf3 (MGI:1925491)
chr1 212726152 212798899 1q41 1q32.3 609174 NSL1, DC8, C1orf48 NSL1, MIS12 kinetochore complex component NSL1 25936 ENSG00000117697 Nsl1 (MGI:2685830)
chr1 212856603 212858137 1q31 1q32.3 610864 LQK1 LQK1 protein FLVCR1-DT 642946
chr1 212858254 212899362 1q31.3 1q32.3 609144 FLVCR1, AXPC1, PCARP Feline leukemia virus subgroup C receptor 1 FLVCR1 28982 ENSG00000162769 Ataxia, posterior column, with retinitis pigmentosa, 609033 (3), Autosomal recessive Flvcr1 (MGI:2444881)
chr1 212935542 212992304 1q32.3 1q32.3 610471 VASH2 Vasohibin 2 VASH2 79805 ENSG00000143494 Vash2 (MGI:2444826)
chr1 213051232 213378752 1q32.3 1q32.3 617517 RPS6KC1, RPK118 Ribosomal protein S6 kinase C1 RPS6KC1 26750 ENSG00000136643 Rps6kc1 (MGI:2443419)
chr1 213924748 213926653 1q41 1q32.3 614635 LINC00538, YIYA Long intergenic noncoding RNA 538 LINC00538 100861504
chr1 213983238 214041509 1q32.2-q32.3 1q32.3 601546 PROX1 Prospero-related homeo box 1 PROX1 5629 ENSG00000117707 Prox1 (MGI:97772)
chr1 214281221 214337135 1q41 1q32.3 610663 SMYD2 SET and MYND domain-containing protein 2 SMYD2 56950 ENSG00000143499 Smyd2 (MGI:1915889)
chr1 214348695 214551680 1q32 1q32-q41 603155 PTPN14, PEZ, CATLPH Protein tyrosine phosphatase, nonreceptor-type, 14 PTPN14 5784 ENSG00000152104 mutation identified in 1 CATLPH family ?Choanal atresia and lymphedema, 613611 (3), Autosomal recessive Ptpn14 (MGI:102467)
chr1 214400000 236400000 1q41-q42 610836 AUTS11 Autism, susceptibility to, 11 100188820 associated with rs12740310, rs3737296, and rs12310279 {Autism susceptibility 11}, 610836 (2)
chr1 214400000 236400000 1q41-q42 612530 DEL1q41q42, C1DELq41q42 Chromosome 1q41-q42 deletion syndrome contiguous gene deletion of 1.7Mb Chromosome 1q41-q42 deletion syndrome, 612530 (4), Isolated cases
chr1 214400000 248956422 1q41-q44 615589 OTSC10 Otosclerosis 10 OTSC10 102723100 Otosclerosis 10, 615589 (2), Autosomal dominant
chr1 214400000 223900000 1q41 600332 RMD1 Rippling muscle disease 1 RMD1 6022 Rippling muscle disease-1, 600332 (2), Autosomal dominant
chr1 214603188 214664570 1q32-q41 1q41 600236 CENPF, CILD31, STROMS Centromere autoantigen F, 400kD CENPF 1063 ENSG00000117724 Stromme syndrome, 243605 (3), Autosomal recessive Cenpf (MGI:1313302)
chr1 215002919 215237092 1q41 1q41 603219 KCNK2, TREK Potassium channel, subfamily K, member 2 KCNK2 3776 ENSG00000082482 Kcnk2 (MGI:109366)
chr1 215567378 215621820 1q41 1q41 613272 KCTD3 Potassium channel tetramerization domain-containing protein 3 KCTD3 51133 ENSG00000136636 Kctd3 (MGI:2444629)
chr1 215622893 216423395 1q41 1q41 608400 USH2A, RP39 Usherin USH2A 7399 ENSG00000042781 Retinitis pigmentosa 39, 613809 (3); Usher syndrome, type 2A, 276901 (3), Autosomal recessive Ush2a (MGI:1341292)
chr1 216503245 217137754 1q41 1q41 602969 ESRRG Estrogen-related receptor, gamma ESRRG 2104 ENSG00000196482 Esrrg (MGI:1347056)
chr1 217426991 217631111 1q41 1q41 616836 GPATCH2, GPATC2 G-patch domain-containing protein 2 GPATCH2 55105 ENSG00000092978 Gpatch2 (MGI:1915019)
chr1 217631323 217868150 1q41 1q41 611032 SPATA17, MSRG11 Spermatogenesis-associated protein 17 SPATA17 128153 ENSG00000162814 Spata17 (MGI:1921967)
chr1 218285286 218337982 1q41 1q41 611193 RRP15 Ribosomal RNA-processing 15, S. cerevisiae, homolog of RRP15 51018 ENSG00000067533 Rrp15 (MGI:1914473)
chr1 218345283 218444618 1q41 1q41 190220 TGFB2, LDS4 Transforming growth factor, beta-2 TGFB2 7042 ENSG00000092969 Loeys-Dietz syndrome 4, 614816 (3), Autosomal dominant Tgfb2 (MGI:98726)
chr1 219173830 219445120 1q41 1q41 616548 LYPLAL1 Lysophospholipase-like 1 LYPLAL1 127018 ENSG00000143353 Lyplal1 (MGI:2385115)
chr1 219910394 219960103 1q41 1q41 611146 SLC30A10, ZNT10, HMNDYT1 Solute carrier family 30 (zinc transporter), member 10 SLC30A10 55532 ENSG00000196660 Hypermanganesemia with dystonia 1, 613280 (3), Autosomal recessive Slc30a10 (MGI:2685058)
chr1 219968599 220046657 1q41-q42 1q41 138295 EPRS, PARS Glutamyl-prolyl-tRNA synthetase EPRS 2058 ENSG00000136628 Eprs (MGI:97838)
chr1 220057481 220089915 1q41 1q41 604053 BPNT1 3'(2'),5'-bisphosphate nucleotidase 1 BPNT1 10380 ENSG00000162813 Bpnt1 (MGI:1338800)
chr1 220094112 220148040 1q41 1q41 612801 IARS2, CAGSSS Isoleucyl-tRNA synthetase 2 IARS2 55699 ENSG00000067704 mutation identified in 1 CAGSSS family ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3), Autosomal recessive Iars2 (MGI:1919586)
chr1 220117852 220117961 1q41 1q41 610943 MIR215, MIRN215 Micro RNA 215 MIR215 406997
chr1 220118156 220118240 1q41 1q41 610940 MIR194-1, MIRN194-1 Micro RNA 194-1 MIR194-1 406969
chr1 220148267 220272500 1q41 1q41 609275 RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2 RAB3 GTPase-activating protein (noncatalytic) subunit 2 RAB3GAP2 25782 ENSG00000118873 Martsolf syndrome, 212720 (3), Autosomal recessive; Warburg micro syndrome 2, 614225 (3), Autosomal recessive Rab3gap2 (MGI:1916043)
chr1 220528182 220664456 1q41 1q41 606511 MARK1, KIAA1477 MAP/microtubule affinity-regulating kinase 1 MARK1 4139 ENSG00000116141 Mark1 (MGI:2664902)
chr1 220747416 220784814 1q41 1q41 614127 MOSC2, MARC2 Molybdenum cofactor sulfurase C-terminal domain-containing protein 2 MARC2 54996 ENSG00000117791 Marc2 (MGI:1914497)
chr1 220786696 220814398 1q41 1q41 614126 MOSC1, MARC1 Molybdenum cofactor sulfurase C-terminal domain-containing protein 1 MARC1 64757 ENSG00000186205 Marc1 (MGI:1913362)
chr1 220879400 220885058 1q41-q42.1 1q41 142995 HLX1 H.20-like homeobox 1 HLX 3142 ENSG00000136630 Hlx (MGI:96109)
chr1 221701419 221742175 1q41 1q41 608867 DUSP10, MKP5 Dual-specificity phosphatase 10 DUSP10 11221 ENSG00000143507 Dusp10 (MGI:1927070)
chr1 222557901 222590095 1q42 1q41 604903 TAF1A, RAFI48, SL1 TATA box-binding protein-associated factor 1A TAF1A 9015 ENSG00000143498 Taf1a (MGI:109578)
chr1 222618101 222668011 1q42 1q41 613455 MIA3, TANGO1, TANGO, KIAA0268 Melanoma inhibitory activity family, member 3 MIA3 375056 ENSG00000154305 Mia3 (MGI:2443183)
chr1 222668012 222712894 1q41 1q41 612375 AIDA Axin interactor, dorsalization-associated AIDA 64853 ENSG00000186063 Aida (MGI:1919737)
chr1 222814513 223005994 1q42 1q41 607502 DISPA Dispatched, Drosophila, homolog of, A DISP1 84976 ENSG00000154309 Disp1 (MGI:1916147)
chr1 223108400 223143281 1q41 1q41 603031 TLR5, TIL3, SLEB1, MELIOS Toll-like receptor-5 TLR5 7100 ENSG00000187554 {Legionnaire disease, susceptibility to}, 608556 (3); {Melioidosis, susceptibility to}, 615557 (3); {Systemic lupus erythematosus, resistance to}, 601744 (3); {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3) Tlr5 (MGI:1858171)
chr1 223220818 223365270 1q41 1q41 615827 SUSD4 Sushi domain-containing protein 4 SUSD4 55061 ENSG00000143502 Susd4 (MGI:2138351)
chr1 223701592 223776017 1q41-q42 1q41 114230 CAPN2 Calpain, large polypeptide L2 CAPN2 824 ENSG00000162909 Capn2 (MGI:88264)
chr1 223779892 223845971 1q42.1 1q41 602143 TP53BP2, ASPP2 Tumor protein p53-binding protein-2 TP53BP2 7159 ENSG00000143514 Trp53bp2 (MGI:2138319)
chr1 223900000 236400000 1q42 613058 BCC2 Basal cell carcinoma, susceptibility to, 2 100307119 associated with rs801114 {Basal cell carcinoma, susceptibility to, 2}, 613058 (2)
chr1 223900000 236400000 1q42 606554 EA3 Episodic ataxia, type 3 780905 max lod at D1S235 Episodic ataxia, type 3, 606554 (2), Autosomal dominant
chr1 223900000 236400000 1q42 143025 HRES1 HTLV-1 related endogenous sequence HRES1 3272
chr1 223900000 236400000 1q42 604801 MDC1B Muscular dystrophy, congenital, 1B 53368 Muscular dystrophy, congenital, 1B, 604801 (2), Autosomal recessive
chr1 223900000 236400000 1q42 170000 PEPC Peptidase C PEPC 5183 1q25, 1q32 = conflicting localizations
chr1 223900000 230500000 1q42.11-q42.13 180420 RN5S1@ RNA, 5S cluster 1 RN5S1@ 6025 25-30% at 1q31 (RN5S3@)
chr1 224114086 224162046 1q42.12 1q42.11 609100 FBXO28, FBX28, KIAA0483 F-box only protein 28 FBXO28 23219 ENSG00000143756 Fbxo28 (MGI:1261890)
chr1 224183207 224193440 1q42.11 1q42.11 615843 DEGS1, DES1, MLD Delta(4)-desaturase, sphingolipid, 1 DEGS1 8560 ENSG00000143753 Degs1 (MGI:1097711)
chr1 224227333 224330188 1q41-q42.2 1q42.11 602426 NVL Nuclear valosin-containing protein-like NVL 4931 ENSG00000143748 Nvl (MGI:1914709)
chr1 224356810 224379451 1q42.11 1q42.11 617483 CNIH4, CNIH2 Cornichon family AMPA receptor auxiliary protein 4 CNIH4 29097 ENSG00000143771 Cnih4 (MGI:1925828)
chr1 224385142 224434766 1q42.13 1q42.11-q42.12 617424 WDR26, SKDEAS WD repeat-containing protein 26 WDR26 80232 ENSG00000162923 Skraban-Deardorff syndrome, 617616 (3), Autosomal dominant Wdr26 (MGI:1923825)
chr1 224928421 225399293 1q42 1q42.12 603341 DNAH14, HL18 Dynein, axonemal, heavy chain 14 DNAH14 127602 ENSG00000185842 Dnah14 (MGI:2444525)
chr1 225401501 225428854 1q42.1 1q42.12 600024 LBR, PHA Lamin B receptor LBR 3930 ENSG00000143815 Greenberg skeletal dysplasia, 215140 (3), Autosomal recessive; Pelger-Huet anomaly, 169400 (3), Autosomal dominant; ?Reynolds syndrome, 613471 (3), Autosomal dominant Lbr (MGI:2138281)
chr1 225486828 225660045 1q42.13 1q42.12 609061 ENAH, ENA, MENA, NDPP1 Enabled, Drosophila, homolog of ENAH 55740 ENSG00000154380 Enah (MGI:108360)
chr1 225777812 225790465 1q42.12 1q42.12 600707 SRP9, ALURBP Signal recognition particle, 9-kD SRP9 6726 ENSG00000143742 Srp9 (MGI:1350930)
chr1 225810073 225845562 1q42.1 1q42.12 132810 EPHX1 Epoxide hydroxylase 1, microsomal xenobiotic EPHX1 2052 ENSG00000143819 Hypercholanemia, familial, 607748 (3) Ephx1 (MGI:95405)
chr1 225886281 225889145 1q42.1 1q42.12 603037 LEFTB, LEFTY1 Left-right determination, factor B LEFTY1 10637 ENSG00000243709 Lefty1 (MGI:107405)
chr1 225919876 225924339 1q42.13 1q42.12 616406 PYCR2, HLD10 Pyrroline-5-carboxylate reductase 2 PYCR2 29920 ENSG00000143811 Leukodystrophy, hypomyelinating, 10, 616420 (3), Autosomal recessive Pycr2 (MGI:1277956)
chr1 225936597 225941491 1q42.1 1q42.12 601877 EBAF, TGFB4, LEFTY2, LEFTA, LEFTYA Transforming growth factor, beta-4 (endometrial bleeding-associated factor) LEFTY2 7044 ENSG00000143768 Left-right axis malformations (3) Lefty2 (MGI:2443573)
chr1 226062706 226072001 1q41 1q42.12 601128 H3F3A, H3F3 H3 histone, family 3A H3F3A 3020 ENSG00000163041 H3f3b,H3f3a (MGI:1101768,MGI:1097686)
chr1 226144678 226186721 1q42.1 1q42.12 606809 ACBD3, GOCAP1, GOLPH1, GCP60 Acyl-Coenzyme A binding domain containing 3 ACBD3 64746 ENSG00000182827 Acbd3 (MGI:2181074)
chr1 226223617 226227054 1q42.1 1q42.12 609852 MIXL1, MIXL, MIX MIX1 homeobox-like protein 1 MIXL1 83881 ENSG00000185155 Mixl1 (MGI:1351322)
chr1 226231148 226310081 1q42.12 1q42.12 609375 LIN9 Lin9, C. elegans, homolog of LIN9 286826 ENSG00000183814 Lin9 (MGI:1919818)
chr1 226360690 226408099 1q42 1q42.12 173870 PARP1, ADPRT, PPOL, PARP Poly(ADP-ribose) polymerase 1 PARP1 142 ENSG00000143799 ?processed pseudogenes on chr.13 and 14 Parp1 (MGI:1340806)
chr1 226631689 226739295 1q41-q43 1q42.12 147522 ITPKB Inositol 1,4,5-trisphosphate 3-kinase B ITPKB 3707 ENSG00000143772 Itpkb (MGI:109235)
chr1 226870571 226903828 1q31-q42 1q42.13 600759 PSEN2, AD4, STM2, CMD1V Presenilin 2 PSEN2 5664 ENSG00000143801 Alzheimer disease-4, 606889 (3), Autosomal dominant; Cardiomyopathy, dilated, 1V, 613697 (3), Autosomal dominant Psen2 (MGI:109284)
chr1 226939338 226987544 1q42.2 1q42.13 606980 ADCK3, COQ8, CABC1, SCAR9, ARCA2, COQ10D4 AARF domain-containing kinase 3 COQ8A 56997 ENSG00000163050 Coenzyme Q10 deficiency, primary, 4, 612016 (3), Autosomal recessive Coq8a (MGI:1914676)
chr1 226989864 227318501 1q41-q42 1q42.13 603412 CDC42BPA, PK428, MRCKA CDC42-binding protein kinase alpha CDC42BPA 8476 ENSG00000143776 Cdc42bpa (MGI:2441841)
chr1 227918655 227947929 1q42 1q42.13 602863 WNT14 Wingless-type MMTV integration site family, member 14 WNT9A 7483 ENSG00000143816 Wnt9a (MGI:2446084)
chr1 228007021 228067112 1q42 1q42.13 606359 WNT3A Wingless-type MMTV integration site family, member 3A WNT3A 89780 ENSG00000154342 Wnt3a (MGI:98956)
chr1 228082659 228099211 1q42 1q42.13 103180 ARF1 ADP-ribosylation factor-1 ARF1 375 ENSG00000143761 Arf1 (MGI:99431)
chr1 228106678 228111745 1q42.13 1q42.13 611859 MRPL55 Mitochondrial ribosomal protein L55 MRPL55 128308 ENSG00000162910 Mrpl55 (MGI:1914462)
chr1 228140083 228148954 1q32.1-q42 1q42.13 139270 GUK1 Guanylate kinase-1 GUK1 2987 ENSG00000143774 Guk1 (MGI:95871)
chr1 228149713 228159825 1q42.13 1q42.13 608803 GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C Gap junction protein, gamma-2 (47kD) GJC2 57165 ENSG00000198835 Leukodystrophy, hypomyelinating, 2, 608804 (3), Autosomal recessive; Lymphedema, hereditary, IC, 613480 (3), Autosomal dominant; Spastic paraplegia 44, autosomal recessive, 613206 (3), Autosomal recessive Gjc2 (MGI:2153060)
chr1 228165807 228182256 1q42.13 1q42.13 615316 IBA57, C1orf69, MMDS3, SPG74 IBA57, S. cerevisiae, homolog of IBA57 200205 ENSG00000181873 mutation identified in 1 MMDS3 family and 1 SPG74 family ?Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive; ?Spastic paraplegia 74, autosomal recessive, 616451 (3), Autosomal recessive Iba57 (MGI:3041174)
chr1 228393671 228406815 1q42.13 1q42.13 607868 TRIM11 Tripartite motif-containing protein 11 TRIM11 81559 ENSG00000154370 Trim11 (MGI:2137355)
chr1 228406876 228416881 1q42 1q42.13 606123 RNF16 RING finger protein-16 TRIM17 51127 ENSG00000162931 Trim17 (MGI:1861440)
chr1 228424844 228425324 1q42 1q42.13 602820 HIST3H3, H3FT, H3T Histone 3, H3 HIST3H3 8290 ENSG00000168148
chr1 228457363 228457858 1q42 1q42.13 615015 HIST3H2A Histone gene cluster 3, H2A histone HIST3H2A 92815 ENSG00000181218 Hist3h2a (MGI:2448458)
chr1 228458106 228458557 1q42 1q42.13 615046 HIST3H2BB, H2Bb Histone gene cluster 3, H2B histone family, member B HIST3H2BB 128312 ENSG00000196890 Hist3h2bb-ps (MGI:1922442)
chr1 228487366 228496187 1q42.13 1q42.13 613754 RNF186, RACO1 Ring finger protein 187 RNF187 149603 ENSG00000168159 Rnf187 (MGI:1914224)
chr1 228644646 228746668 1q42 1q42.13 606366 RHOU, WRCH1 Ras homolog gene family, member U RHOU 58480 ENSG00000116574 Rhou (MGI:1916831)
chr1 229271061 229305893 1q42-q43 1q42.13 179511 RAB4A, RAB4 Ras-associated protein RAB4A RAB4A 5867 ENSG00000168118 Rab4a (MGI:105069)
chr1 229321004 229343794 1q42.13 1q42.13 616762 CCSAP, CSAP, C1orf96 Centriole-, cilia-, and spindle-associated protein CCSAP 126731 ENSG00000154429 Ccsap (MGI:1920670)
chr1 229431244 229434095 1q42.1 1q42.13 102610 ACTA1, ASMA, NEM3, CFTD1, SHPM Actin, alpha-1, skeletal muscle ACTA1 58 ENSG00000143632 mutation identified in 1 SHPM family Myopathy, actin, congenital, with cores, 161800 (3), Autosomal recessive, Autosomal dominant; Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3), Autosomal recessive, Autosomal dominant; Myopathy, congenital, with fiber-type disproportion 1, 255310 (3), Autosomal recessive, Autosomal dominant; ?Myopathy, scapulohumeroperoneal, 616852 (3), Autosomal dominant; Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3), Autosomal recessive, Autosomal dominant Acta1 (MGI:87902)
chr1 229441290 229508341 1q42.13 1q42.13 607613 NUP133 Nucleoporin, 133kD NUP133 55746 ENSG00000069248 Nup133 (MGI:2442620)
chr1 229516581 229558987 1q42 1q42.13 605454 ABCB10, MTABC2 ATP-binding cassette, subfamily B, member 10 ABCB10 23456 ENSG00000135776 pseudogene on 15q13-q14 Abcb10 (MGI:1860508)
chr1 230057788 230282129 1q41-q42 1q42.13 602274 GALNT2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 GALNT2 2590 ENSG00000143641 Galnt2 (MGI:894694)
chr1 230321645 230425927 1q42.13 1q42.13 616791 PGBD5 Piggybac transposable element-derived 5 PGBD5 79605 ENSG00000177614 Pgbd5 (MGI:2429955)
chr1 230500000 243500000 1q42.2-q43 602759 PCAP Predisposing for prostate cancer PCAP 7834 {Prostate cancer, susceptibility to}, 176807 (2), Autosomal dominant
chr1 230500000 243500000 1q42.2-q43 119100 SHFL1, SHFLD Split-hand/foot malformation with long bone deficiency 1 791121 between rs1124110 and rs535043 Split-hand/foot malformation with long bone deficiency 1, 119100 (2), Autosomal dominant
chr1 230642455 230693984 1q42.2 1q42.2 606974 COG2, LDLC, CDG2Q Component of oligomeric golgi complex 2 COG2 22796 ENSG00000135775 mutation identified in 1 CDG2Q patient ?Congenital disorder of glycosylation, type IIq, 617395 (3), Autosomal recessive Cog2 (MGI:1923582)
chr1 230702522 230714589 1q42-q43 1q42.2 106150 AGT, SERPINA8 Angiotensinogen AGT 183 ENSG00000135744 {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial; {Preeclampsia, susceptibility to} (3); Renal tubular dysgenesis, 267430 (3), Autosomal recessive Agt (MGI:87963)
chr1 230747288 230803355 1q42 1q42.2 606401 CAPN9 Calpain 9 CAPN9 10753 ENSG00000135773 Capn9 (MGI:1920897)
chr1 230979048 231000732 1q42.2 1q42.2 611647 ARV1, EIEE38 ARV1, S. cerevisiae, homolog of ARV1 64801 ENSG00000173409 Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive Arv1 (MGI:1916115)
chr1 231162390 231221567 1q42 1q42.2 610584 TRIM67 Tripartite motif-containing protein 67 TRIM67 440730 ENSG00000119283 Trim67 (MGI:3045323)
chr1 231241172 231277972 1q42 1q42.2 602744 GNPAT, DHAPAT, RCDP2 Glyceronephosphate O-acyltransferase GNPAT 8443 ENSG00000116906 Rhizomelic chondrodysplasia punctata, type 2, 222765 (3), Autosomal recessive Gnpat (MGI:1343460)
chr1 231332730 231337871 1q42.2 1q42.2 615283 EXOC8, EXO84, SEC84 Exocyst complex component 8 EXOC8 149371 ENSG00000116903 Exoc8 (MGI:2142527)
chr1 231337935 231355028 1q42.2 1q42.2 616086 SPRTN, DVC1, C1orf124, RJALS SprT-like N-terminal domain protein SPRTN 83932 ENSG00000010072 Ruijs-Aalfs syndrome, 616200 (3), Autosomal recessive Sprtn (MGI:2685351)
chr1 231363750 231425043 1q42-q43 1q42.2 606425 EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3, HALAH Egl9, C. elegans, homolog of, 1 EGLN1 54583 ENSG00000135766 Erythrocytosis, familial, 3, 609820 (3), Autosomal dominant; [Hemoglobin, high altitude adaptation], 609070 (3), Autosomal dominant Egln1 (MGI:1932286)
chr1 231528652 231566523 1q41 1q42.2 602964 TSNAX, TRAX Translin-associated factor X TSNAX 7257 ENSG00000116918 Tsnax (MGI:1855672)
chr1 231626814 232041271 1q42.1 1q42.2 605210 DISC1, SCZD9 Disrupted in schizophrenia 1 DISC1 27185 ENSG00000162946 {Schizophrenia 9, susceptibility to}, 604906 (3) Disc1 (MGI:2447658)
chr1 231814625 231818516 1q42.1 1q42.2 606271 DISC2 Disrupted in schizophrenia 2 DISC2 27184 noncoding antisense RAN Schizophrenia, 181500 (2), Autosomal dominant
chr1 232397964 232630490 1q42.2 1q42.2 611609 SIPA1L2, KIAA1389 SIPA1-like protein 2 SIPA1L2 57568 ENSG00000116991 Sipa1l2 (MGI:2676970)
chr1 232984108 233295729 1q42.2 1q42.2 617656 PCNX2, KIAA0435 Pecanex, Drosophila, homolog of, 2 PCNX2 80003 ENSG00000135749 Pcnx2 (MGI:2445010)
chr1 233327731 233385147 1q42 1q42.2 614793 MLK4, KIAA1804 Mixed-lineage kinase 4 MAP3K21 84451 ENSG00000143674 Map3k21 (MGI:2385307)
chr1 233614003 233672511 1q42-q43 1q42.2 601745 KCNK1, TWIK1 Potassium channel, subfamily K, member 1 KCNK1 3775 ENSG00000135750 Kcnk1 (MGI:109322)
chr1 234373436 234384048 1q42.2 1q42.2 614772 COA6, C1orf31, CEMCOX4 Cytochrome c oxidase assembly factor 6 COA6 388753 ENSG00000168275 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3), Autosomal recessive
chr1 234391312 234479173 1q42.3 1q42.2 605052 TARBP1, TRP185 TAR RNA-binding protein 1 TARBP1 6894 ENSG00000059588 Tarbp1 (MGI:4936930)
chr1 234604268 234609524 1q42.3 1q42.3 615332 IRF2BP2, CVID14 Interferon regulatory factor 2-binding protein 2 IRF2BP2 359948 ENSG00000168264 mutation identified in 1 CVID14 family ?Immunodeficiency, common variable, 14, 617765 (3), Autosomal dominant Irf2bp2 (MGI:2443921)
chr1 235109340 235128940 1q42.3 1q42.3 601848 TOMM20, MAS20, KIAA0016 Translocase of outer mitochondrial membrane 20, S. cerevisiae, homolog of TOMM20 9804 ENSG00000173726 Tomm20 (MGI:1915202)
chr1 235166894 235328223 1q42.1-q43 1q42.3 609696 ARID4B, SAP180, RBP1L1, RBBP1L1, BRCAA1 AT-rich interactive domain-containing protein 4B ARID4B 51742 ENSG00000054267 Arid4b (MGI:2137512)
chr1 235328437 235344531 1q43 1q42.3 606982 GGPS1, GGPPS1 Geranylgeranyl diphosphate synthase 1 GGPS1 9453 ENSG00000152904 Ggps1 (MGI:1341724)
chr1 235367359 235448967 1q42-q43 1q42.3 604934 TBCE, KCS, KCS1, HRD, PEAMO Tubulin-specific chaperone E TBCE 6905 ENSG00000284770 Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3), Autosomal recessive; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3), Autosomal recessive; Kenny-Caffey syndrome, type 1, 244460 (3), Autosomal recessive Tbce (MGI:1917680)
chr1 235440653 235504480 1q42.3 1q42.3 610194 B3GALNT2, MGC39558, MDDGA11 Beta-1,3-N-acetylgalactosaminyltransferase 2 B3GALNT2 148789 ENSG00000162885 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3), Autosomal recessive B3galnt2 (MGI:2145517)
chr1 235547684 235650753 1q42.3 1q42.3 604388 GNG4 Guanine nucleotide-binding protein, gamma 4 GNG4 2786 ENSG00000168243 Gng4 (MGI:102703)
chr1 235661030 235883707 1q42.3 1q42.3 606897 LYST, CHS1 Lysosomal trafficking regulator LYST 1130 ENSG00000143669 Chediak-Higashi syndrome, 214500 (3), Autosomal recessive Lyst (MGI:107448)
chr1 235975829 236065180 1q43 1q42.3 131390 NID Nidogen NID1 4811 ENSG00000116962 Nid1 (MGI:97342)
chr1 236142528 236213534 1q42-q43 1q42.3 604658 TM7SF1 Transmembrane 7 superfamily, member 1 GPR137B 7107 ENSG00000077585 Gpr137b (MGI:1891463)
chr1 236213063 236282038 1q42.3 1q42.3 615437 ERO1LB Endoplasmic reticulum oxidoreduction 1-like beta ERO1B 56605 ENSG00000086619 Ero1lb (MGI:1914725)
chr1 236394379 236484707 1q42.2-q43 1q42-q43 606603 EDARADD, ED3, EDA3, ECTD11B, ECTD11A EDAR-associated death domain EDARADD 128178 ENSG00000186197 Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3), Autosomal dominant; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3), Autosomal recessive Edaradd (MGI:1931001)
chr1 236400000 248956422 1q43-q44 612433 DFNB45 Deafness, autosomal recessive 45 DFNB45 449483 between D1S547 and D1S2836 Deafness, autosomal recessive 45, 612433 (2), Autosomal recessive
chr1 236518213 236552980 1q42-q43 1q43 606099 LGALS8, PCTA1 Lectin, galactoside-binding, soluble, 8 LGALS8 3964 ENSG00000116977 Lgals8 (MGI:1928481)
chr1 236686453 236764630 1q42-q43 1q43 102573 ACTN2, CMD1AA, CMH23 Actinin, alpha-2 ACTN2 88 ENSG00000077522 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3), Autosomal dominant Actn2 (MGI:109192)
chr1 236794303 236903980 1q43 1q43 156570 MTR, HMAG 5-methyltetrahydrofolate-homocysteine methyltransferase 1 MTR 4548 ENSG00000116984 Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive Mtr (MGI:894292)
chr1 237042207 237833987 1q42.1-q43 1q43 180902 RYR2, VTSIP, ARVD2, ARVC2 Ryanodine receptor-2 (cardiac) RYR2 6262 ENSG00000198626 Arrhythmogenic right ventricular dysplasia 2, 600996 (3), Autosomal dominant; Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3), Autosomal dominant Ryr2 (MGI:99685)
chr1 237882376 237890921 1q43 1q43 613514 ZP4, ZPB Zona pellucida glycoprotein 4 ZP4 57829 ENSG00000116996
chr1 239386564 239915449 1q41-q44 1q43 118494 CHRM3, PBS, EGBRS Cholinergic receptor, muscarinic, 3 CHRM3 1131 ENSG00000133019 mutation identified in 1 PBS family ?Prune belly syndrome, 100100 (3), Autosomal recessive Chrm3 (MGI:88398)
chr1 240091884 240475188 1q43 1q43 606373 FMN2, MRT47 Formin 2 FMN2 56776 ENSG00000155816 Mental retardation, autosomal recessive 47, 616193 (3), Autosomal recessive Fmn2 (MGI:1859252)
chr1 240489572 240612371 1q43 1q43 608832 GREM2, PRDC, STHAG9 Gremlin 2 homolog, cystine knot superfamily GREM2 64388 ENSG00000180875 Tooth agenesis, selective, 9, 617275 (3), Autosomal dominant Grem2 (MGI:1344367)
chr1 240775192 241357273 1q43 1q43 602517 RGS7 Regulator of G protein signaling 7 RGS7 6000 ENSG00000182901 Rgs7 (MGI:1346089)
chr1 241497556 241519784 1q42.1 1q43 136850 FH, HLRCC, MCUL1, FMRD Fumarate hydratase FH 2271 ENSG00000091483 Fumarase deficiency, 606812 (3), Autosomal recessive; Leiomyomatosis and renal cell cancer, 150800 (3), Autosomal dominant Fh1 (MGI:95530)
chr1 241531882 241595646 1q43 1q43 603538 KMO Kynurenine 3-monooxygenase KMO 8564 ENSG00000117009 Kmo (MGI:2138151)
chr1 241593149 241640398 1q43 1q43 606695 OPN3, ECPN Opsin 3 OPN3 23596 ENSG00000054277 Opn3 (MGI:1338022)
chr1 241628863 241635929 1q43 1q43 118825 CHML, REP2 Choroideremia-like CHML 1122 ENSG00000203668 Chml (MGI:101913)
chr1 241847966 241889938 1q42-q43 1q43 606063 EXO1, HEX1 Exonuclease 1, S. cerevisiae, homolog of EXO1 9156 ENSG00000174371 Exo1 (MGI:1349427)
chr1 241957766 241959061 1q43 1q43 615687 BECN2, BECN1L1 Beclin 2 BECN2 441925 ENSG00000196289
chr1 243124427 243255795 1q44 1q43 613023 CEP170, KIAA0470 Centrosomal protein, 170kD CEP170 9859 ENSG00000143702 Cep170 (MGI:1918348)
chr1 243255417 243503682 1q43-q44 1q43-q44 613524 SDCCAG8, CCCAP, SLSN7, BBS16 Serologically defined colon cancer antigen 8 SDCCAG8 10806 ENSG00000054282 Bardet-Biedl syndrome 16, 615993 (3), Autosomal recessive; Senior-Loken syndrome 7, 613615 (3) Sdccag8 (MGI:1924066)
chr1 243488232 243851078 1q44 1q43-q44 611223 AKT3, PKBG, MPPH2 v-Akt murine thymoma viral oncogene homolog 3 AKT3 10000 ENSG00000117020 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 (3), Autosomal dominant Akt3 (MGI:1345147)
chr1 244048938 244057475 1q44 1q44 608433 ZBTB18, ZNF238, RP58, MRD22 Zinc finger and BTB domain containing 18 ZBTB18 10472 ENSG00000179456 Mental retardation, autosomal dominant 22, 612337 (3), Autosomal dominant Zbtb18 (MGI:1353609)
chr1 244408491 244452133 1cen-q12 1q44 103060 ADSS Adenylosuccinate synthetase (Ade(-)H-complementing) ADSS 159 ENSG00000035687 Adss (MGI:87948)
chr1 244452012 244640361 1q44 1q44 617510 CATSPERE, C10orf101 Cation channel, sprem-associated, auxiliary subunit epsilon CATSPERE 257044 ENSG00000179397 Catspere2,Catspere1 (MGI:5589632,MGI:3647531)
chr1 244652759 244709033 1q44 1q44 614638 DESI2, PPPDE1 Desumoylating isopeptidase 2 DESI2 51029 ENSG00000121644 Desi2 (MGI:1926075)
chr1 244835305 244845062 1q44 1q44 614698 COX20, FAM36A Cytochrome c oxidase 20, S. cerevisiae, homolog of COX20 116228 ENSG00000203667 Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial Cox20 (MGI:1913609)
chr1 244850299 244864524 1q44 1q44 602869 HNRNPU, HNRPU, SAFA, EIEE54 Heterogeneous nuclear ribonucleoprotein U HNRNPU 3192 ENSG00000153187 Epileptic encephalopathy, early infantile, 54, 617391 (3), Autosomal dominant Hnrnpu (MGI:1858195)
chr1 245154984 245709431 1q44 1q44 614026 KIF26B Kinesin family member 26B KIF26B 55083 ENSG00000162849 Kif26b (MGI:2447076)
chr1 245749339 246507341 1q44 1q44 608783 SMYD3 SET and MYND domain-containing protein 3 SMYD3 64754 ENSG00000185420 Smyd3 (MGI:1916976)
chr1 246540560 246566262 1q44 1q44 607055 TFB2M Transcription factor B2, mitochondrial TFB2M 64216 ENSG00000162851 Tfb2m (MGI:107937)
chr1 246566336 246668586 1q44 1q44 613439 CNST Consortin CNST 163882 ENSG00000162852 Cnst (MGI:2445141)
chr1 246839097 246931977 1q44 1q44 610853 AHCTF1, ELYS AT hook containing transcription factor 1 AHCTF1 25909 ENSG00000153207 Ahctf1 (MGI:1915033)
chr1 246945546 247008092 1q44 1q44 616348 ZNF695, SBZF3 Zinc finger protein 695 ZNF695 57116 ENSG00000197472
chr1 247121974 247172378 1q44 1q44 194631 ZNF124 Zinc finger protein-124 (HZF-16) ZNF124 7678 ENSG00000196418 Gm20541 (MGI:5142006)
chr1 247297412 247333375 1q44 1q44 613911 ZNF496, NIZP1, ZFP496 Zinc finger protein 496 ZNF496 84838 ENSG00000162714 Zkscan17 (MGI:2679270)
chr1 247416155 247449107 1q44 1q44 606416 NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH NLR family, pyrin domain containing 3 NLRP3 114548 ENSG00000162711 CINCA syndrome, 607115 (3), Autosomal dominant; Deafness, autosomal dominant 34, with or without inflammation, 617772 (3), Autosomal dominant; Familial cold-induced inflammatory syndrome 1, 120100 (3), Autosomal dominant; Keratoendothelitis fugax hereditaria, 148200 (3), Autosomal dominant; Muckle-Wells syndrome, 191900 (3), Autosomal dominant Nlrp3 (MGI:2653833)
chr1 247672117 247673040 1q44 1q44 611677 OR13G1 Olfactory receptor, family 13, subfamily G, member 1 OR13G1 441933 ENSG00000197437 Olfr309 (MGI:3030143)
chr1 247895586 247896530 1q44 1q44 616729 OR2W3 Olfactory receptor family 2 subfamily W member 3 OR2W3 343171 ENSG00000238243 Olfr322 (MGI:3030156)
chr1 248739414 248755786 1q44 1q44 617067 LYPD8 LY6/PLAUR domain-containing protein 8 LYPD8 646627 ENSG00000259823 Lypd8 (MGI:1917413)
chr1 248850003 248860760 1q44 1q44 617758 ZNF692, AREBP Zinc finger protein 692 ZNF692 55657 ENSG00000171163 Zfp692 (MGI:2144276)
chr1 0 248956422 Chr.1 108420 SPGF2, ASG Spermatogenic failure 2 100653377 inversion of chromosome 1 Spermatogenic failure 2, 108420 (2), Autosomal dominant
chr2 0 12000000 2p25 612396 ALLC Allantoicase ALLC 55821 ENSG00000151360 nonfunctional in humans
chr2 0 23800000 2pter-p24 115800 CTRCT29 Cataract 29, coralliform 101867602 between D2S297 and D2S2269 Cataract 29, coralliform, 115800 (2), Autosomal dominant
chr2 0 41500000 2p25-p22 602134 ETM2, ETM Tremor, hereditary essential, 2 ETM2 2112 max lod at D2S272 Essential tremor, hereditary, 2, 602134 (2), Autosomal dominant
chr2 0 23800000 2p25-p24 607329 HYT3 Hypertension, essential, susceptibility to, 3 387575 {Hypertension, essential, susceptibility to, 3}, 145500 (2), Multifactorial
chr2 0 12000000 2p25 609402 PEE2 Preeclampsia/eclampsia 2 780908 Preeclampsia/eclampsia 2, 609402 (2)
chr2 0 83100000 2p25-p12 101850 PPKP3 Keratoderma, palmoplantar, punctate type III max lod at ACP1 and IGKC ?Keratoderma, palmoplantar, punctate type 3, 101850 (2), Autosomal dominant
chr2 38813 47076 2p25.3 2p25.3 611395 FAM110C Family with sequence similarity 110, member C FAM110C 642273 ENSG00000184731 Fam110c (MGI:1918813)
chr2 218135 264865 2p25.3 2p25.3 617314 SH3YL1 SH3 domain- and SYLF domain-containing protein 1 SH3YL1 26751 ENSG00000035115 Sh3yl1 (MGI:1346118)
chr2 264868 278282 2p25 2p25.3 171500 ACP1 Acid phosphatase 1, soluble ACP1 52 ENSG00000143727 Acp1 (MGI:87881)
chr2 663876 677467 2p25.3 2p25.3 613220 TMEM18 Transmembrane protein 18 TMEM18 129787 ENSG00000151353
chr2 1413287 1542726 2p25 2p25.3 606765 TPO, TPX, TDH2A Thyroid peroxidase TPO 7173 ENSG00000115705 Thyroid dyshormonogenesis 2A, 274500 (3), Autosomal recessive Tpo (MGI:98813)
chr2 1631886 1744851 2p25.3 2p25.3 605158 PXDN, D2S448E, KIAA0230, PRG2, PXN, COPOA, ASGD7 Peroxidasin, Drosophila, homolog of PXDN 7837 ENSG00000130508 Anterior segment dysgenesis 7, with sclerocornea, 269400 (3), Autosomal recessive Pxdn (MGI:1916925)
chr2 1789112 2331387 2p24 2p25.3 613084 MYT1L, KIAA1106, MRD39 Myelin transcription factor 1-like MYT1L 23040 ENSG00000186487 Mental retardation, autosomal dominant 39, 616521 (3), Autosomal dominant Myt1l (MGI:1100511)
chr2 3188923 3377931 2p25.2 2p25.3 608998 EIPR1, TSSC1 EARP complex and GARP complex interacting protein 1 EIPR1 7260 ENSG00000032389 Eipr1 (MGI:1289332)
chr2 3379244 3479570 2p25.3 2p25.3 614139 TRAPPC12, TTC15, PEBAS Trafficking protein particle complex, subunit 12 TRAPPC12 51112 ENSG00000171853 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 (3), Autosomal recessive Trappc12 (MGI:2445089)
chr2 3497918 3519578 2p25.3 2p25.3 613400 ADI1, SIPL Acireductone dioxygenase 1 ADI1 55256 ENSG00000182551 Adi1 (MGI:2144929)
chr2 3531812 3558370 2p25 2p25.3 604123 RNASEH1, PEOB2 Ribonuclease H1 RNASEH1 246243 ENSG00000171865 pseudogenes on chr. 17 and chr.1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3), Autosomal recessive Rnaseh1 (MGI:1335073)
chr2 3575262 3580918 2p25 2p25.3 603658 RPS7, DBA8 Ribosomal protein S7 RPS7 6201 ENSG00000171863 Diamond-Blackfan anemia 8, 612563 (3), Autosomal dominant Rps7 (MGI:1333818)
chr2 3594831 3644643 2p25.3 2p25.3 612502 COLEC11, CLK1, 3MC2 Collectin 11 COLEC11 78989 ENSG00000118004 3MC syndrome 2, 265050 (3), Autosomal recessive Colec11 (MGI:1918943)
chr2 5692666 5701384 2p25 2p25.2 600898 SOX11, MRD27 SRY (sex-determining region Y)-box 11 SOX11 6664 ENSG00000176887 Mental retardation, autosomal dominant 27, 615866 (3), Autosomal dominant Sox11 (MGI:98359)
chr2 6840416 6866634 2p25.2 2p25.2 611787 CMPK2 Cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial CMPK2 129607 ENSG00000134326 Cmpk2 (MGI:99830)
chr2 6865732 6898238 2p25.2 2p25.2 607810 RSAD2, VIPERIN Radical S-adenosyl methionine domain containing 2 RSAD2 91543 ENSG00000134321 Rsad2 (MGI:1929628)
chr2 6900000 16500000 2p25.1-p24.3 609946 DFNB47 Deafness, neurosensory, autosomal recessive 47 DFNB47 449489 max lod at D2S1400 and D2S262 Deafness, neurosensory, autosomal recessive 47, 609946 (2), Autosomal recessive
chr2 8681982 8684452 2p25 2p25.1 600386 ID2 Inhibitor of DNA binding 2, dominant negative ID2 3398 ENSG00000115738 Id2 (MGI:96397)
chr2 8721133 8837638 2p25.1 2p25.1 615759 KIDINS220, ARMS, SINO Kinase D-interacting substrate, 220kD KIDINS220 57498 ENSG00000134313 Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 (3), Autosomal dominant Kidins220 (MGI:1924730)
chr2 8852689 9003749 2p25.1 2p25.1 611949 MBOAT2, LPCAT4 Membrane-bound O-acyltransferase domain-containing 2 MBOAT2 129642 ENSG00000143797 Mboat2 (MGI:1914466)
chr2 9206764 9405682 2p24 2p25.1 603817 DDEF2, PAP Development- and differentiation-enhancing factor 2 ASAP2 8853 ENSG00000151693 Asap2 (MGI:2685438)
chr2 9405680 9423568 2p25.2 2p25.1 607153 ITGB1BP1, ICAP1, ICAP1A, ICAP1B Integrin cytoplasmic domain-associated protein 1 beta ITGB1BP1 9270 ENSG00000119185 Itgb1bp1 (MGI:1306802)
chr2 9488485 9555819 2p25 2p25.1 603639 ADAM17, TACE, NISBD1 A disintegrin and metalloproteinase domain 17 ADAM17 6868 ENSG00000151694 mutation identified in 1 NISBD1 family ?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3), Autosomal recessive Adam17 (MGI:1096335)
chr2 9583966 9631054 2p25.1 2p25.1 609009 TYHAQ Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta isoform YWHAQ 10971 ENSG00000134308 pseudogene on chr.22 Ywhaq,Ywhaq-ps3 (MGI:3650241,MGI:891963)
chr2 9843441 9934415 2p25 2p25.1 604904 RAF1B, RAFI63, SL1 TATA box-binding protein-associated factor 1B TAF1B 9014 ENSG00000115750 Taf1b (MGI:109577)
chr2 9951662 10002283 2p25.1 2p25.1 609786 GRHL1, LBP32, MGR Grainyhead-like 1 GRHL1 29841 ENSG00000134317 Grhl1 (MGI:2182540)
chr2 10043554 10054835 2p25 2p25.1 603301 KLF11, TIEG2, FKLF1, FKLF, MODY7 Kruppel-like factor 11 KLF11 8462 ENSG00000172059 Maturity-onset diabetes of the young, type VII, 610508 (3) Klf11 (MGI:2653368)
chr2 10122567 10131418 2p25-p24 2p25.1 180390 RRM2 Ribonucleotide reductase, M2 polypeptide RRM2 6241 ENSG00000171848 pseudogenes on 1p, 1q, Xp Rrm2 (MGI:98181)
chr2 10302123 10427616 2p25.1 2p25.1 600207 HPCAL1 Hippocalcin-like 1 HPCAL1 3241 ENSG00000115756 Hpcal1 (MGI:1855689)
chr2 10440370 10448553 2p25 2p25.1 165640 ODC1 Ornithine decarboxylase-1 ODC1 4953 ENSG00000115758 pseudogene ODCP on 7q31-qter {Colonic adenoma recurrence, reduced risk of}, 114500 (3), Autosomal dominant Odc1 (MGI:97402)
chr2 10570765 10689986 2p25.1 2p25.1 616197 NOL10, PQBP5 Nucleolar protein 10 NOL10 79954 ENSG00000115761 Nol10 (MGI:2684913)
chr2 10783390 10837976 2p25-p24 2p25.1 611099 PDIA6, ERP5 Protein disulfide isomerase, family A, member 6 PDIA6 10130 ENSG00000143870 Pdia6 (MGI:1919103)
chr2 10911936 10914224 2p25 2p25.1 603787 KCNF1, KH1 Potassium voltage-gated channel, subfamily F, member 1 KCNF1 3754 ENSG00000162975 Kcnf1 (MGI:2687399)
chr2 11179758 11345406 2p24 2p25.1 604002 ROCK2 RHO-associated coiled-coil-containing protein kinase 2 ROCK2 9475 ENSG00000134318 Rock2 (MGI:107926)
chr2 11481674 11642787 2p25.1 2p25.1 611736 GREB1 GREB1 protein GREB1 9687 ENSG00000196208 Greb1 (MGI:2149712)
chr2 11658118 11670205 2p25.1 2p25.1 605538 NTSR2 Neurotensin receptor 2 NTSR2 23620 ENSG00000169006 Ntsr2 (MGI:108018)
chr2 11677543 11827408 2p21 2p25.1 605518 LPIN1 Lipin 1 LPIN1 23175 ENSG00000134324 related to LSL Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3), Autosomal recessive Lpin1 (MGI:1891340)
chr2 12000000 41500000 2p24-p22 610760 CLQTL2 Cholesterol level quantitative trait locus 2 100188817 max lod at D2S1360 [Cholesterol level QTL 2], 610760 (2)
chr2 12000000 23800000 2p24 609800 GEFSP4 Generalized epilepsy with febrile seizures plus, type 4 100188796 max lod at D2S305 Epilepsy, generalized, with febrile seizures plus, type 4, 609800 (2), Autosomal dominant
chr2 12000000 23800000 2p24 609271 KTCN4 Keratoconus 4 550624 between D2S305 and D2S2373 Keratoconus 4, 609271 (2)
chr2 14632682 14651915 2p24.3 2p24.3 611234 FAM84A, NSE1 Family with sequence similarity 84, member A FAM84A 151354 ENSG00000162981 Fam84a (MGI:2145011)
chr2 14998066 15561347 2p24-p23 2p24.3 608025 NBAS, NAG, SOPH, ILFS2 Neuroblastoma-amplified sequence NBAS 51594 ENSG00000151779 Infantile liver failure syndrome 2, 616483 (3), Autosomal recessive; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3), Autosomal recessive Nbas (MGI:1918419)
chr2 15591620 15631110 2p24 2p24.3 601257 DDX1 DEAD/H box-1 DDX1 1653 ENSG00000079785 Ddx1 (MGI:2144727)
chr2 15920398 15936017 2p24.3 2p24.3 615968 MYCNUT MYCN upstream transcript, noncoding MYCNUT 103752554
chr2 15936264 15942458 2p24.1 2p24.3 605374 MYCNOS, NCYM Oncogene NCYM, opposite strand MYCNOS 10408
chr2 15940437 15947006 2p24.1 2p24.3 164840 MYCN, NMYC, ODED, MODED Oncogene NMYC MYCN 4613 ENSG00000134323 proximal to APOB Feingold syndrome 1, 164280 (3), Autosomal dominant Mycn (MGI:97357)
chr2 16050426 16085688 2p24.3 2p24.3 616132 GACAT3, LINC01458 Gastric cancer-associated transcript 3, noncoding GACAT3 104797537
chr2 17540539 17656438 2p 2p24.2 600817 VSNL1 Visinin-like 1 VSNL1 7447 ENSG00000163032 Vsnl1 (MGI:1349453)
chr2 17663811 17753832 2p24.2 2p24.2 609387 SMC6L1, SMC6 Structural maintenance of chromosomes 6-like 1 SMC6 79677 ENSG00000163029 Smc6 (MGI:1914491)
chr2 17753686 17785919 2p24.2 2p24.2 612449 GEN1 GEN1, Drosophila, homolog of GEN1 348654 ENSG00000178295 Gen1 (MGI:2443149)
chr2 17816509 17817797 2p24.2 2p24.2 612209 MSGN1 Mesogenin 1 MSGN1 343930 ENSG00000151379 Msgn1 (MGI:1860483)
chr2 17877846 17932960 2p24 2p24.2 603888 KCNS3, KV9.3 Potassium voltate-gated channel, delayed-rectifier, subfamily S, member 3 KCNS3 3790 ENSG00000170745 Kcns3 (MGI:1098804)
chr2 18554722 18560692 2p24.2 2p24.2 616796 RDH14, SDR7C4, PAN2 Retinol dehydrogenase 14 RDH14 57665 ENSG00000240857 Rdh14 (MGI:1920402)
chr2 18562870 18589579 2p24.2 2p24.2 610526 NT5C1B, CN1B, AIRP 5'-nucleotidase, cytosolic, Ib NT5C1B 93034 ENSG00000185013 Nt5c1b (MGI:1918131)
chr2 19351484 19358610 2p24 2p24.1 608891 ODD, OSR1 ODD-skipped, Drosophila, homolog of OSR1 130497 ENSG00000143867 Osr1 (MGI:1344424)
chr2 19910259 19990122 2p24.1 2p24.1 613602 WDR35, NAOFEN, KIAA1336, CED2, SRTD7 WD repeat-containing protein 35 WDR35 57539 ENSG00000118965 Cranioectodermal dysplasia 2, 613610 (3), Autosomal recessive; Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3), Autosomal recessive Wdr35 (MGI:1921932)
chr2 19992051 20012693 2p24-p23 2p24.1 602109 MATN3, EDM5, HOA, OS2 Matrilin 3 MATN3 4148 ENSG00000132031 mutation identified in 1 SEMDM family Epiphyseal dysplasia, multiple, 5, 607078 (3), Autosomal dominant; {Osteoarthritis susceptibility 2}, 140600 (3), Autosomal dominant; ?Spondyloepimetaphyseal dysplasia, 608728 (3), Autosomal recessive Matn3 (MGI:1328350)
chr2 20200796 20225432 2p24.1 2p24.1 186355 SDC1 Syndecan 1 SDC1 6382 ENSG00000115884 close to NMYC in mouse Sdc1 (MGI:1349162)
chr2 20248690 20352427 2p22-p21 2p24.1 607205 PUM2, KIAA0235 Pumilio, Drosophila, homolog of, 2 PUM2 23369 ENSG00000055917 Pum2 (MGI:1931751)
chr2 20447070 20449444 2p24.1 2p24.1 165370 RHOB, ARHB, ARH6, RHOH6 RAS homolog gene family, member B (oncogene RHO H6) RHOB 388 ENSG00000143878 Rhob (MGI:107949)
chr2 20552933 20651660 2p24.1 2p24.1 609359 HS1BP3, FLJ14249, ETM2 HS1-binding protein 3 HS1BP3 64342 ENSG00000118960 Hs1bp3 (MGI:1913224)
chr2 20666663 20679242 2p24-p23 2p24.1 604651 GDF7 Growth/differentiation factor 7 GDF7 151449 ENSG00000143869 Gdf7 (MGI:95690)
chr2 20682488 20823138 2p24.1 2p24.1 613570 LDAH, C2orf43 Lipid droplet associated hydrolase LDAH 60526 ENSG00000118961 Ldah (MGI:1916082)
chr2 21001428 21044072 2p24 2p24.1 107730 APOB, FLDB, LDLCQ4 Apolipoprotein B (including Ag(x) antigen) APOB 338 ENSG00000084674 1 gene for liver apo-B100 and gut apo-B48; Ag linked Hypercholesterolemia, due to ligand-defective apo B, 144010 (3), Autosomal dominant; Hypobetalipoproteinemia, 615558 (3), Autosomal recessive Apob (MGI:88052)
chr2 23687623 23927113 2p24.1-p23.3 2p24.1-p23.3 615347 ATAD2B, KIAA1240 ATPase family, AAA domain-containing, member 2B ATAD2B 54454 ENSG00000119778 Atad2b (MGI:2444798)
chr2 23800000 36300000 2p23.3-p22.3 609955 GINGF3, HGF3, GGF3 Fibromatosis, gingival, 3 GINGF3 780916 between D2S2221 and D2S1788 Fibromatosis, gingival, 3, 609955 (2)
chr2 24009021 24026774 2p23.3 2p23.3 617845 MFSD2B Major facilitator superfamily domain-containing protein 2B MFSD2B 388931 ENSG00000205639 Mfsd2b (MGI:3583946)
chr2 24029335 24047425 2p23.3 2p23.3 616234 C2orf44, WDCP WD repeat- and coiled-coil-containing protein WDCP 80304 ENSG00000163026 Wdcp (MGI:3040699)
chr2 24033204 24067742 2p23.3 2p23.3 600620 FKBP1B, PKBP1L FK506-binding protein 1B FKBP1B 2281 ENSG00000119782 Fkbp1b (MGI:1336205)
chr2 24067583 24076443 2p25 2p23.3 607835 SAP14, SF3B14, P14 Spliceosome-associated protein, 14kD SF3B6 51639 ENSG00000115128 Sf3b6 (MGI:1913305)
chr2 24077427 24085766 2p23.3 2p23.3 605171 TP53I3, PIG3 Tumor protein p53-inducible protein 3 TP53I3 9540 ENSG00000115129
chr2 24202863 24360537 2p25 2p23.3 604464 ITSN2, SH3D1B, SWAP, KIAA1256 Intersectin 2 ITSN2 50618 ENSG00000198399 Itsn2 (MGI:1338049)
chr2 24492049 24770701 2p23 2p23.3 602691 NCOA1, SRC1 Nuclear receptor coactivator 1 NCOA1 8648 ENSG00000084676 Ncoa1 (MGI:1276523)
chr2 24790266 24793381 2p23.3 2p23.3 617342 PRTHD1, C2orf79 Peptidyl-tRNA hydrolase domain-containing 1 PTRHD1 391356 ENSG00000184924 Ptrhd1 (MGI:1916959)
chr2 24793114 24822375 2p23.3 2p23.3 611504 CENPO Centromeric protein O CENPO 79172 ENSG00000138092 Cenpo (MGI:1923800)
chr2 24819168 24920016 2p24-p22 2p23.3 600291 ADCY3, BMIQ19 Adenylate cyclase-3 ADCY3 109 ENSG00000138031 {Obesity, susceptibility to, BMIQ19}, 617885 (3) Adcy3 (MGI:99675)
chr2 24943635 24972093 2p23.3 2p23.3 613527 DNAJC27, RBJ DNAJ/HSP40 homolog, subfamily, C, member 27 DNAJC27 51277 ENSG00000115137 Dnajc27 (MGI:2443036)
chr2 25042103 25159136 2p23.3 2p23.3 616797 EFR3B, KIAA0953 Efr3, S. cerevisiae, homolog of, B EFR3B 22979 ENSG00000084710 Efr3b (MGI:2444851)
chr2 25160852 25168850 2p23.3 2p23.3 176830 POMC, OBAIRH Proopiomelanocortin (adrenocorticotropin/beta-lipotropin) POMC 5443 ENSG00000115138 Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3), Autosomal recessive; {Obesity, early-onset, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Pomc (MGI:97742)
chr2 25232960 25342589 2p23 2p23.3 602769 DNMT3A, TBRS DNA methyltransferase 3A DNMT3A 1788 ENSG00000119772 Acute myeloid leukemia, somatic, 601626 (3); Tatton-Brown-Rahman syndrome, 615879 (3), Autosomal dominant Dnmt3a (MGI:1261827)
chr2 25377242 25673673 2p23-p22 2p23.3 602415 DTNB Dystrobrevin, beta DTNB 1838 ENSG00000138101 Dtnb (MGI:1203728)
chr2 25733752 25878515 2p23.3 2p23.3 612991 ASXL2, KIAA1685, SHAPNS Additional sex combs-like 2 ASXL2 55252 ENSG00000143970 Shashi-Pena syndrome, 617190 (3), Autosomal dominant Asxl2 (MGI:1922552)
chr2 25926585 25982739 2p23 2p23.3 602845 KIF3C Kinesin family member 3C KIF3C 3797 ENSG00000084731 Kif3c (MGI:107979)
chr2 26033859 26137453 2p23.3 2p23.3 612672 RAB10 Ras-associated protein RAB10 10890 ENSG00000084733 Rab10 (MGI:105066)
chr2 26190634 26244725 2p23 2p23.3 600890 HADHA, MTPA Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/ enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit HADHA 3030 ENSG00000084754 Fatty liver, acute, of pregnancy, 609016 (3), Autosomal recessive; HELLP syndrome, maternal, of pregnancy, 609016 (3), Autosomal recessive; LCHAD deficiency, 609016 (3), Autosomal recessive; Trifunctional protein deficiency, 609015 (3), Autosomal recessive Hadha (MGI:2135593)
chr2 26244747 26290464 2p23 2p23.3 143450 HADHB Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase /enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit HADHB 3032 ENSG00000138029 Trifunctional protein deficiency, 609015 (3), Autosomal recessive Hadhb (MGI:2136381)
chr2 26346085 26395890 2p23.3 2p23.3 607915 SELENOI, SELI Selenoprotein I SELENOI 85465 ENSG00000138018 Selenoi (MGI:107898)
chr2 26401911 26456712 2p23.3 2p23.3 615288 DRC1, CCDC164, C2orf39, CILD21 Dynein regulatory complex, subunit 1, Chlamydomonas, homolog of DRC1 92749 ENSG00000157856 Ciliary dyskinesia, primary, 21, 615294 (3), Autosomal recessive Drc1 (MGI:2685906)
chr2 26457202 26558697 2p23-p22 2p23.3 603681 OTOF, DFNB9, NSRD9, AUNB1 Otoferlin OTOF 9381 ENSG00000115155 symbolized DFNB6 by authors Auditory neuropathy, autosomal recessive, 1, 601071 (3), Autosomal recessive; Deafness, autosomal recessive 9, 601071 (3), Autosomal recessive Otof (MGI:1891247)
chr2 26692712 26733419 2p23 2p23.3 603220 KCNK3, TASK, PPH4 Potassium channel, subfamily K, member 3 KCNK3 3777 ENSG00000171303 Pulmonary hypertension, primary, 4, 615344 (3), Autosomal dominant Kcnk3 (MGI:1100509)
chr2 26786013 26794588 2p24-p21 2p23.3 117139 CENPA Centromere protein A, 17kD CENPA 1058 ENSG00000115163 Cenpa (MGI:88375)
chr2 26848100 26950350 2p23.3 2p23.3 608383 DPYSL5, CRMP5, CRAM Dihydropyrimidinase-like 5 DPYSL5 56896 ENSG00000157851 Dpysl5 (MGI:1929772)
chr2 26970370 27027218 2p23.3-p23.1 2p23.3 605788 MAPRE3, EB3, RP3, EBF3 Microtubule-associated protein, RP/EB family, member 3 MAPRE3 22924 ENSG00000084764 Mapre3 (MGI:2140967)
chr2 27032905 27041696 2p23.3 2p23.3 615301 TMEM214 Transmembrane protein 214 TMEM214 54867 ENSG00000119777 Tmem214 (MGI:1916046)
chr2 27051422 27070621 2p23.3 2p23.3 615900 AGBL5, CCP5, RP75 AATP/GTP-binding protein-like 5 AGBL5 60509 ENSG00000084693 Retinitis pigmentosa 75, 617023 (3), Autosomal recessive Agbl5 (MGI:2441745)
chr2 27078566 27086402 2p23.3-p23.2 2p23.3 130660 EMILIN1, EMILIN Elastin microfibril interfacer 1 EMILIN1 11117 ENSG00000138080 Emilin1 (MGI:1926189)
chr2 27086742 27100750 2p23.3-p23.2 2p23.3 614058 KHK Ketohexokinase (fructokinase) KHK 3795 ENSG00000138030 [Fructosuria], 229800 (3), Autosomal recessive Khk (MGI:1096353)
chr2 27099352 27119126 2p23.3 2p23.3 606137 CGREF1, CGR11 Cell growth regulator with EF-hand domain 1 CGREF1 10669 ENSG00000138028 Cgref1 (MGI:1915817)
chr2 27123779 27131113 2p23.3 2p23.3 612195 ABHD1, LABH1 Abhydrolase domain-containing 1 ABHD1 84696 ENSG00000143994
chr2 27130755 27134674 2p23 2p23.3 606395 PREB Prolactin regulatory element-binding protein PREB 10113 ENSG00000138073 Preb (MGI:1355326)
chr2 27148891 27153585 2p24-p23 2p23.3 609635 TCF23 Transcription factor 23 TCF23 150921 ENSG00000163792 Tcf23 (MGI:1934960)
chr2 27199586 27212341 2p23.3 2p23.3 604024 SLC5A6, SMVT Solute carrier family 5 (sodium dependent vitamin transporter), member 6 SLC5A6 8884 ENSG00000138074 Slc5a6 (MGI:2660847)
chr2 27217389 27243791 2p21 2p23.3 114010 CAD, CDG1Z, EIEE50 CAD trifunctional protein of pyrimidine biosynthesis CAD 790 ENSG00000084774 Epileptic encephalopathy, early infantile, 50, 616457 (3), Autosomal recessive Cad (MGI:1916969)
chr2 27254571 27275862 2p23.3 2p23.3 602878 SLC30A3, ZNT3 Solute carrier family 30 (zinc transporter), member 3 SLC30A3 7781 ENSG00000115194 Slc30a3 (MGI:1345280)
chr2 27275420 27281429 2p23.3 2p23.3 613946 DNAJC5G DNAJ/HSP40 homolog, subfamily C, member 5, gamma DNAJC5G 285126 ENSG00000163793 Dnajc5g (MGI:3045263)
chr2 27282428 27307438 2p23.3 2p23.3 606474 TRIM54, RNF30, MURF3 Tripartite motif containing 54 TRIM54 57159 ENSG00000138100 Trim54 (MGI:1889623)
chr2 27307399 27308444 2p23-p21 2p23.3 600945 UCN, UROC Urocortin UCN 7349 ENSG00000163794 Ucn (MGI:1276123)
chr2 27309491 27323101 2p23-p21 2p23.3 137960 MPV17, MTDPS6 Mpv17 transgene, mouse, glomerulosclerosis, homolog of MPV17 4358 ENSG00000115204 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3), Autosomal recessive Mpv17 (MGI:97138)
chr2 27364351 27370456 2p23.3 2p23.3 606687 EIF2B4 Eukaryotic translation initiation factor 2B, subunit 4 EIF2B4 8890 ENSG00000115211 Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive Eif2b4 (MGI:95300)
chr2 27370495 27377532 2p23-p22 2p23.3 605963 SNX17 Sorting nexin 17 SNX17 9784 ENSG00000115234 Snx17 (MGI:2387801)
chr2 27377230 27380865 2p24.1-p22.3 2p23.3 613598 ZNF513, RP58 Zinc finger protein 513 ZNF513 130557 ENSG00000163795 mutation identified in 1 RP58 family ?Retinitis pigmentosa 58, 613617 (3), Autosomal recessive Zfp513 (MGI:2141255)
chr2 27381198 27409682 2p23.3 2p23.3 605119 PPM1G, PP2CG Protein phosphatase, magnesium/manganese-dependent, 1G PPM1G 5496 ENSG00000115241 Ppm1g (MGI:106065)
chr2 27427789 27442258 2p23 2p23.3 606010 NRBP Nuclear receptor-binding protein NRBP1 29959 ENSG00000115216 Nrbp1 (MGI:2183436)
chr2 27444372 27489818 2p23.3 2p23.3 607386 IFT172, SLB, KIAA1179, SRTD10, RP71 Intraflagellar transport 172, Chlamydomonas, homolog of IFT172 26160 ENSG00000138002 Retinitis pigmentosa 71, 616394 (3), Autosomal recessive; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3), Autosomal recessive Ift172 (MGI:2682064)
chr2 27491882 27495501 2p23.3 2p23.3 611905 FNDC4, FRCP1 Fibronectin type III domain-containing protein 4 FNDC4 64838 ENSG00000115226 Fndc4 (MGI:1917195)
chr2 27496838 27523688 2p23.3-p23.2 2p23.3 600842 GCKR, GKRP, FGQTL5 Glucokinase (hexokinase 4) regulatory protein GCKR 2646 ENSG00000084734 [Fasting plasma glucose level QTL 5], 613463 (3) Gckr (MGI:1096345)
chr2 27628647 27650845 2p23.3 2p23.3 611479 XAB1, MBDIN XPA-binding protein GPN1 11321 ENSG00000198522 Gpn1 (MGI:1921504)
chr2 27642567 27663839 2p25 2p23.3 612762 SUPT7L, SUPT7H, SPT7l, KIAA0764, STAF65G Suppressor of TY 7-like SUPT7L 9913 ENSG00000119760 Supt7l (MGI:1919445)
chr2 27663470 27694979 2p23.3-p23.2 2p23.3 602655 SLC4A1AP Solute carrier family 4 (anion exchanger), member 1, adaptor protein SLC4A1AP 22950 ENSG00000163798 Slc4a1ap (MGI:1196608)
chr2 27771716 27779740 2p22 2p23.2 610059 MRPL33 Mitochondrial ribosomal protein L33 MRPL33 9553 ENSG00000243147 Mrpl33 (MGI:2137225)
chr2 27781363 27890395 2p23.2 2p23.2 611132 RBKS Ribokinase RBKS 64080 ENSG00000171174 Rbks (MGI:1918586)
chr2 27888708 28338900 2p23.2 2p23.2 610497 BRE, BRCC4, BRCC45 Brain and reproductive organ-expressed protein BABAM2 9577 ENSG00000158019 Babam2 (MGI:1333875)
chr2 28392854 28417311 2p23.2 2p23.2 601575 FOSL2 FOS-like antigen-2 FOSL2 2355 ENSG00000075426 Fosl2 (MGI:102858)
chr2 28488577 28644134 2p23.2 2p23.2 610179 PLB1, PLB, FLJ30866 Phospholipase B1 PLB1 151056 ENSG00000163803 Plb1 (MGI:1922406)
chr2 28751747 28802939 2p23 2p23.2 600590 PPP1CB, NSLH2 Protein phosphatase-1, catalytic subunit, beta isoform PPP1CB 5500 ENSG00000213639 Noonan syndrome-like disorder with loose anagen hair 2, 617506 (3), Autosomal dominant Ppp1cb (MGI:104871)
chr2 28810833 28850609 2p23.2 2p23.2 614029 SPDYA, SPY1, RINGOA Speedy, xenopus, homolog of, A SPDYA 245711 ENSG00000163806 Spdya (MGI:1918141)
chr2 28894642 28948219 2p23.2 2p23.2 616195 WDR43, UTP5, KIAA0007 WD repeat-containing protein 43 WDR43 23160 ENSG00000163811 Wdr43 (MGI:1919765)
chr2 29061689 29074260 2p24.1-p23.1 2p23.2 613425 C2orf71 Chromosome 2 open reading frame 71 C2orf71 388939 ENSG00000179270 Retinitis pigmentosa 54, 613428 (3) BC027072 (MGI:2385061)
chr2 29190991 29921610 2p23 2p23.2-p23.1 105590 ALK, NBLST3 Anaplastic lymphoma kinase (Ki-1) ALK 238 ENSG00000171094 {Neuroblastoma, susceptibility to, 3}, 613014 (3) Alk (MGI:103305)
chr2 30146567 30160532 2p23.1 2p23.1 609726 YPEL5 Yippee-like 5 YPEL5 51646 ENSG00000119801 Ypel5 (MGI:1916937)
chr2 30231530 30260032 2p23.1 2p23.1 611763 LBH Limb bud and heart development, mouse, homolog of LBH 81606 ENSG00000213626 Lbh (MGI:1925139)
chr2 30447225 30644224 2p23.1 2p23.1 614241 LCLAT1, ALCAT1, AGPAT8 Lysocardiolipin acyltransferase 1 LCLAT1 253558 ENSG00000172954 Lclat1 (MGI:2684937)
chr2 30888517 31138725 2p23.2 2p23.1 608225 GALNT14 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 GALNT14 79623 ENSG00000158089 Galnt14 (MGI:1918935)
chr2 31234013 31269450 2p21 2p23.1 605891 EHD3 EH domain-containing 3 EHD3 30845 ENSG00000013016 Ehd3 (MGI:1928900)
chr2 31334319 31414776 2p23-p22 2p23.1 607633 XDH, XAN1 Xanthine dehydrogenase (xanthine oxidase) XDH 7498 ENSG00000158125 Xanthinuria, type I, 278300 (3), Autosomal recessive Xdh (MGI:98973)
chr2 31522485 31665650 2p23 2p23.1 607306 SRD5A2 Steroid-5-alpha-reductase, alpha polypeptide-2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha-2) SRD5A2 6716 ENSG00000277893 Pseudovaginal perineoscrotal hypospadias, 264600 (3), Autosomal recessive Srd5a2 (MGI:2150380)
chr2 31800000 47500000 2p22.3-p21 114580 CANDF1, CMCT Candidiasis, familial, 1 117084 between D2S367 and D2S2240 Candidiasis, familial, 1, autosomal dominant, 114580 (2), Autosomal dominant
chr2 31867187 32011051 2p22-p21 2p22.3 611786 MEMO1, MEMO, C2orf4 Mediator of cell motility 1 MEMO1 51072 ENSG00000162959 Memo1 (MGI:1924140)
chr2 32011648 32039839 2p22.3 2p22.3 612032 DPY30 DPY30, C. elegans, homolog of DPY30 84661 ENSG00000162961 Dpy30 (MGI:1913560)
chr2 32063550 32157636 2p22-p21 2p22.3 604277 SPAST, SPG4 Spastin SPAST 6683 ENSG00000021574 Spastic paraplegia 4, autosomal dominant, 182601 (3), Autosomal dominant Spast (MGI:1858896)
chr2 32165840 32224378 2p22-p21 2p22.3 611148 SLC30A6, ZNT6 Solute carrier family 30 (zinc transporter), member 6 SLC30A6 55676 ENSG00000152683 Slc30a6 (MGI:2386741)
chr2 32224448 32265742 2p22.3 2p22.3 606831 NLRC4, CARD12, CLAN, IPAF, AIFEC, FCAS4 NLR family, caspase recruitment domain-containing 4 NLRC4 58484 ENSG00000091106 mutation identified in 1 FCAS4 family Autoinflammation with infantile enterocolitis, 616050 (3), Autosomal dominant; ?Familial cold autoinflammatory syndrome 4, 616115 (3), Autosomal dominant Nlrc4 (MGI:3036243)
chr2 32277888 32307397 2p22.3 2p22.3 617534 YIPF4 Yip1 domain family, member 4 YIPF4 84272 ENSG00000119820 Yipf4 (MGI:1915114)
chr2 32356906 32618898 2p22-p21 2p22.3 605638 BIRC6, KIAA1289 Baculoviral IAP repeat-containing protein-6 BIRC6 57448 ENSG00000115760 Birc6 (MGI:1276108)
chr2 32532152 32532245 2p22.3 2p22.3 616473 MIR558 Micro RNA 558 MIR558 693143 BIRC6 is host gene
chr2 32902128 33399508 2p12-q22 2p22.3 150390 LTBP1 Latent transforming growth factor beta binding protein 1 LTBP1 4052 ENSG00000049323 Ltbp1 (MGI:109151)
chr2 36300000 38300000 2p22.2 602499 MACOM Macrophthalmia, colobomatous, with microcornea Macrophthalmia, colobomatous, with microcornea, 602499 (4), Autosomal dominant
chr2 36356087 36551134 2p22-p21 2p22.2 606189 CRIM1 Cysteine-rich motor neuron protein 1 CRIM1 51232 ENSG00000150938 Crim1 (MGI:1354756)
chr2 36552238 36598189 2p22.2 2p22.2 604826 FEZ2 Fasciculation and elongation protein zeta 2 FEZ2 9637 ENSG00000171055 Fez2 (MGI:2675856)
chr2 36696689 36814793 2p22.2 2p22.2 617693 VIT, VIT1 Vitrin VIT 5212 ENSG00000205221 Vit (MGI:1921449)
chr2 36837697 36966606 2p22 2p22.2 614765 STRN Striatin, calmodulin-binding protein STRN 6801 ENSG00000115808 Strn (MGI:1333757)
chr2 37099209 37157064 2p21 2p22.2 176871 PRKR Protein kinase, interferon-inducible double stranded RNA dependent EIF2AK2 5610 ENSG00000055332 Eif2ak2 (MGI:1353449)
chr2 37167819 37196081 2p22.3 2p22.2 617152 SULT6B1 Sulfotransferase family 6B, member 1 SULT6B1 391365 ENSG00000138068 Sult6b1 (MGI:1920921)
chr2 37201628 37231596 2p22.2 2p22.2 612828 CEBPZ, CBF, NOC1 CCAAT/enhancer-binding protein, zeta CEBPZ 10153 ENSG00000115816 Cebpz (MGI:109386)
chr2 37231630 37271364 2p22.2 2p22.2 615898 NDUFAF7, MIDA NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 NDUFAF7 55471 ENSG00000003509 Ndufaf7 (MGI:1920944)
chr2 37250501 37324784 2p21 2p22.2 607077 PRKCN Protein kinase C, nu PRKD3 23683 ENSG00000115825 Prkd3 (MGI:1922542)
chr2 37344609 37373321 2p22.2 2p22.2 607065 QPCT, QC Glutaminyl-peptide cyclotransferase QPCT 25797 ENSG00000115828 Qpct (MGI:1917786)
chr2 37641881 37672534 2p21 2p22.2 606133 CDC42EP3, CEP3, BORG2 CDC42 effector protein 3 CDC42EP3 10602 ENSG00000163171 Cdc42ep3 (MGI:2384718)
chr2 37920788 38069245 2p22.2 2p22.2 611872 FAM82A1, FAM82A, RMD2 Family with sequence similarity 82, member A1 RMDN2 151393 ENSG00000115841 Rmdn2 (MGI:2147043)
chr2 38067602 38076180 2p22-p21 2p22.2 601771 CYP1B1, GLC3A, ASGD6 Cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1 CYP1B1 1545 ENSG00000138061 Anterior segment dysgenesis 6, multiple subtypes, 617315 (3); Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3), Autosomal recessive Cyp1b1 (MGI:88590)
chr2 38293956 38378583 2p22.3 2p22.2-p22.1 609368 ARL3IP2, ATL2 ADP-ribosylation-like factor 6-interacting protein 2 (atlastin 2) ATL2 64225 ENSG00000119787 Atl2 (MGI:1929492)
chr2 38300000 47500000 2p22.1-p21 614227 HNFJ3 Hyperuricemic nephropathy, familial juvenile, 3 100689490 between rs372139 and rs896986 Hyperuricemic nephropathy, familial juvenile, 3, 614227 (2), Autosomal dominant
chr2 38563185 38603035 2p22 2p22.1 611208 HNRNPLL, HNRPLL, SRRF Heterogeneous nuclear ribonucleoprotein L-like HNRNPLL 92906 ENSG00000143889 Hnrnpll (MGI:1919942)
chr2 38665909 38734766 2p22-p11 2p22.1 137030 GALM, GLAT Galactose mutarotase GALM 130589 ENSG00000143891 Galm (MGI:2442420)
chr2 38743598 38751493 2p22-p21 2p22.1 600572 SRSF7, SFRS7 Splicing factor, arginine/serine-rich 7, 35kD SRSF7 6432 ENSG00000115875 Srsf7 (MGI:1926232)
chr2 38778184 38781964 2p22.1 2p22.1 607006 GEMIN6 GEM-associated protein 6 GEMIN6 79833 ENSG00000152147 Gemin6-ps,Gemin6 (MGI:1914492,MGI:3645567)
chr2 38981548 39124958 2p22-p21 2p22.1 182530 SOS1, GINGF, GF1, HGF, NS4 Son of sevenless, Drosophila, homolog of, 1 SOS1 6654 ENSG00000115904 mutation identified in 1 GINGF1 family ?Fibromatosis, gingival, 1, 135300 (3), Autosomal dominant; Noonan syndrome 4, 610733 (3), Autosomal dominant Sos1 (MGI:98354)
chr2 39248940 39437311 2p22.1 2p22.1 604921 MAP4K3, GLK Mitogen-activated protein kinase kinase kinase kinase 3 MAP4K3 8491 ENSG00000011566 Map4k3 (MGI:2154405)
chr2 39736059 39779275 2p22-p21 2p22.1 611751 THUMPD2, C2orf8 THUMP domain-containing 2 THUMPD2 80745 ENSG00000138050 Thumpd2 (MGI:1919417)
chr2 40112116 40512451 2p23-p22 2p22.1 182305 SLC8A1, NCX1 Solute carrier family 8, member 1 (sodium-calcium exchanger-1) SLC8A1 6546 ENSG00000183023 Slc8a1 (MGI:107956)
chr2 41500000 47500000 2p21 606407 DEL2p21, C2DELp21 Homozygous 2p21 deletion syndrome contiguous gene syndrome disrupting SLC3A1 and PREPL genes Hypotonia-cystinuria syndrome, 606407 (4), Autosomal recessive
chr2 41500000 83100000 2p21-p12 615654 DFNA58 Deafness, autosomal dominant 58 DFNA58 100359395 between D2S2259 and D2S2114 Deafness, autosomal dominant 58, 615654 (2), Autosomal dominant
chr2 41500000 47500000 2p21 601694 LEPQTL1, LSL Leptin serum levels quantitative trait locus 1 7839 [Leptin serum levels QTL1], 601694 (2)
chr2 41500000 74800000 2p21-p13 608703 SCA25 Spinocerebellar ataxia 25 SCA25 338435 Spinocerebellar ataxia 25, 608703 (2), Autosomal dominant
chr2 42048020 42058527 2p21 2p21 614150 PKDCC, VLK, SGK493 Protein kinase domain-containing protein, cytoplasmic, mouse, homolog of PKDCC 91461 ENSG00000162878 Pkdcc (MGI:2147077)
chr2 42169337 42332547 2p22-p21 2p21 607442 EML4, ROPP120 Echinoderm microtubule associated protein like-4 EML4 27436 ENSG00000143924 Eml4 (MGI:1926048)
chr2 42335560 42368956 2p21 2p21 605771 COX7A2L, COX7RP, EB1 Cytochrome c oxidase subunit VIIA, polypeptide 2-like COX7A2L 9167 ENSG00000115944 Cox7a2l (MGI:106015)
chr2 42442016 42494096 2p21 2p21 606767 KCNG3, KV6.3 Potassium voltage-gated channel, subfamily G, member 3 KCNG3 170850 ENSG00000171126 Kcng3 (MGI:2663923)
chr2 42767086 42801001 2p21 2p21 604521 HAAO, VCRL1 3-hydroxyanthranilate 3,4-dioxygenase HAAO 23498 ENSG00000162882 Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3), Autosomal recessive Haao (MGI:1349444)
chr2 43222401 43226605 2p21 2p21 612053 ZFP36L2, ERF2, TIS11D Zinc finger protein 36-like 2 ZFP36L2 678 ENSG00000152518 incorrectly mapped to 6p21.3 Zfp36l2 (MGI:107945)
chr2 43230835 43596045 2p21 2p21 611800 THADA, KIAA1767 Thyroid adenoma-associated gene THADA 63892 ENSG00000115970 Thada (MGI:3039623)
chr2 43637299 43767986 2p21 2p21 612723 PLEKHH2 Pleckstrin homology domain-containing protein, family H, member 2 PLEKHH2 130271 ENSG00000152527 Plekhh2 (MGI:2146813)
chr2 43774038 43828319 2p25.1-p24.1 2p21 617083 DYNC2LI1, D2LIC, LIC3, SRTD15 Dynein, cytoplasmic 2, light intermediate chain 1 DYNC2LI1 51626 ENSG00000138036 Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive Dync2li1 (MGI:1913996)
chr2 43806153 43838839 2p21 2p21 605459 ABCG5 ATP-binding cassette, subfamily G, member 5 ABCG5 64240 ENSG00000138075 Sitosterolemia, 210250 (3), Autosomal recessive Abcg5 (MGI:1351659)
chr2 43831941 43880050 2p21 2p21 605460 ABCG8, GBD4 ATP-binding cassette, subfamily G, member 8 ABCG8 64241 ENSG00000143921 {Gallbladder disease 4}, 611465 (3); Sitosterolemia, 210250 (3), Autosomal recessive Abcg8 (MGI:1914720)
chr2 43886223 43996004 2p21 2p21 607544 LRPPRC, LRP130, LSFC Leucine-rich PPR motif-containing protein LRPPRC 10128 ENSG00000138095 Leigh syndrome, French-Canadian type, 220111 (3), Autosomal recessive Lrpprc (MGI:1919666)
chr2 44168802 44247329 2p21 2p21 603770 PPM1B Protein phosphatase, magnesium-dependent, 1, beta isoform PPM1B 5495 ENSG00000138032 formerly PP2CB Ppm1b (MGI:101841)
chr2 44275457 44320823 2p16.3 2p21 104614 SLC3A1, ATR1, D2H, NBAT Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1 SLC3A1 6519 ENSG00000138079 Cystinuria, 220100 (3), Autosomal recessive, Autosomal dominant Slc3a1 (MGI:1195264)
chr2 44317606 44361861 2p21 2p21 609557 PREPL, KIAA0436, CMS22 Prolyl endopeptidase-like PREPL 9581 ENSG00000138078 mutation identified in 1 CMS22 patient ?Myasthenic syndrome, congenital, 22, 616224 (3), Autosomal recessive Prepl (MGI:2441932)
chr2 44361713 44772591 2p21 2p21 609559 CAMKMT, C2orf34 Calmodulin lysine N-methyltransferase CAMKMT 79823 ENSG00000143919 Camkmt (MGI:1920832)
chr2 44941897 44946076 2p21 2p21 603714 SIX3, HPE2 Sine oculis homeo box, Drosophila, homolog of, 3 SIX3 6496 ENSG00000138083 Holoprosencephaly 2, 157170 (3), Autosomal dominant; Schizencephaly, 269160 (3) Six3 (MGI:102764)
chr2 45005184 45009644 2p16-p15 2p21 604994 SIX2 Sine oculis homeo box, Drosophila, homolog of, 2 SIX2 10736 ENSG00000170577 Six2 (MGI:102778)
chr2 45651314 46187989 2p21 2p21 176975 PRKCE, PKCE Protein kinase C, epsilon PRKCE 5581 ENSG00000171132 Prkce (MGI:97599)
chr2 46297401 46386702 2p21-p16 2p21 603349 EPAS1, MOP2, HIF2A, ECYT4 Endothelial PAS domain protein 1 EPAS1 2034 ENSG00000116016 Erythrocytosis, familial, 4, 611783 (3) Epas1 (MGI:109169)
chr2 46511834 46542556 2p21 2p21 617385 ATP6V1E2, ATP6E1 ATPase, H+ transporting, lysosomal, 31kD, V1 subunit E, isoform 1 ATP6V1E2 90423 ENSG00000250565 Atp6v1e2 (MGI:1922165)
chr2 46542408 46584687 2p21 2p21 605857 RHOQ, ARHQ, TC10 Ras-homolog gene family, member Q RHOQ 23433 ENSG00000119729 Rhoq (MGI:1931553)
chr2 46581273 46617111 2p21-p16 2p21 600153 PIGF Phosphatidylinositol glycan, class F PIGF 5281 ENSG00000151665 pseudogene on 5 Pigf (MGI:99462)
chr2 46617171 46630175 2p21 2p21 604594 CRIPT, SSMDF Cystine-rich PDZ binding protein CRIPT 9419 ENSG00000119878 Short stature with microcephaly and distinctive facies, 615789 (3), Autosomal recessive Cript (MGI:1929655)
chr2 46698959 46762787 2p21 2p21 607094 SOCS5, CIS6, KIAA0671 Suppressor of cytokine signaling 5 SOCS5 9655 ENSG00000171150 also signals at 3p22 Socs5 (MGI:2385459)
chr2 46901869 46941854 2p21-p16.3 2p21 607788 MCFD2, F5F8D2 Multiple coagulation factor deficiency protein 2 MCFD2 90411 ENSG00000180398 Factor V and factor VIII, combined deficiency of, 613625 (3) Mcfd2 (MGI:2183439)
chr2 46916128 47076135 2p21 2p21 609332 TTC7A, TTC7, KIAA1140, MINAT, GIDID Tetratricopeptide repeat domain 7A TTC7A 57217 ENSG00000068724 Gastrointestinal defects and immunodeficiency syndrome, 243150 (3), Autosomal recessive Ttc7 (MGI:1920999)
chr2 47160081 47176935 2p21 2p21 114182 CALM2, LQT15 Calmodulin-2 CALM2 805 ENSG00000143933 Long QT syndrome 15, 616249 (3), Autosomal dominant
chr2 47369147 47387027 2p21 2p21 185535 EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8 Epithelial cellular adhesion molecule EPCAM 4072 ENSG00000119888 previously assigned to 4q Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3); Diarrhea 5, with tufting enteropathy, congenital, 613217 (3), Autosomal recessive Epcam (MGI:106653)
chr2 47403066 47634500 2p22-p21 2p21-p16 609309 MSH2, COCA1, FCC1, HNPCC1 mutS, E. coli, homolog of, 2 MSH2 4436 ENSG00000095002 Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3), Autosomal dominant; Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; Muir-Torre syndrome, 158320 (3), Autosomal dominant Msh2 (MGI:101816)
chr2 47500000 61000000 2p16 609958 ASRT3 Asthma-related traits, susceptibility to, 3 100188801 max lod at rs2063871 {Asthma-related traits, susceptibility to, 3}, 609958 (2)
chr2 47500000 61000000 2p16 605244 CNC2 Carney complex, type II CNC2 1257 Carney complex, type II, 605244 (2)
chr2 47500000 63900000 2p16-p15 604254 DYX3 Dyslexia, susceptibility to, 3 DYX3 11192 {Dyslexia, susceptibility to, 3}, 604254 (2)
chr2 47500000 63900000 2p16-p15 611276 GLC1H Glaucoma 1, open angle, H GLC1H 399564 between D2S123 AND D2S2165 Glaucoma 1, open angle, H, 611276 (2)
chr2 47500000 61000000 2p16 613549 STQTL24 Stature quantitative trait locus 24 100529223 linked to rs1520446 {Stature QTL 24}, 613549 (2)
chr2 47520774 47570330 2p22-p21 2p16.3 607366 KCNK12, THIK2 Potassium channel, subfamily K, member 12 KCNK12 56660 ENSG00000184261 Kcnk12 (MGI:2684043)
chr2 47783081 47806953 2p16 2p16.3 600678 MSH6, GTBP, HNPCC5 MutS, E. coli, homolog of, 6 MSH6 2956 ENSG00000116062 0.5 Mb from MSH2 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3), Autosomal dominant; Endometrial cancer, familial, 608089 (3); Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive Msh6 (MGI:1343961)
chr2 47806919 47905792 2p21 2p16.3 607871 FBXO11, FBX11, VIT1, PRMT9 F-box only protein 11 FBXO11 80204 ENSG00000138081 ?2p16 Fbxo11 (MGI:2147134)
chr2 48314639 48379294 2p22-p16 2p16.3 143089 HTLF Human T-cell leukemia virus enhancer factor FOXN2 3344 ENSG00000170802 Foxn2 (MGI:1347478)
chr2 48530168 48598514 2p16.3 2p16.3 605357 STON1, STN1, SBLF, SALF Stonin 1 STON1 11037 ENSG00000243244 Ston1 (MGI:1924307)
chr2 48617779 48679608 2p16.3 2p16.3 605358 GTF2A1L, ALF General transcription factor IIA, 1-like GTF2A1L 11036 ENSG00000242441 Gtf2a1l (MGI:1919078)
chr2 48686773 48755740 2p21 2p16.3 152790 LHCGR, LHR, LCGR Luteinizing hormone/choriogonadotropin receptor LHCGR 3973 ENSG00000138039 Leydig cell adenoma, somatic, with precocious puberty, 176410 (3); Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3), Autosomal recessive; Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3), Autosomal recessive; Luteinizing hormone resistance, female, 238320 (3), Autosomal recessive; Precocious puberty, male, 176410 (3), Autosomal dominant Lhcgr (MGI:96783)
chr2 48953160 49154526 2p21-p16 2p16.3 136435 FSHR, ODG1 Follicle stimulating hormone receptor FSHR 2492 ENSG00000170820 Ovarian dysgenesis 1, 233300 (3), Autosomal recessive; Ovarian hyperstimulation syndrome, 608115 (3), Autosomal dominant; Ovarian response to FSH stimulation, 276400 (3), Autosomal recessive Fshr (MGI:95583)
chr2 49918504 51032535 2p16.3 2p16.3 600565 NRXN1, PTHSL2, SCZD17 Neurexin 1 NRXN1 9378 ENSG00000179915 Pitt-Hopkins-like syndrome 2, 614325 (3), Autosomal recessive; {Schizophrenia, susceptibility to, 17}, 614332 (3) Nrxn1 (MGI:1096391)
chr2 53669979 53787008 2p16.2 2p16.2 605760 ASB3 Ankyrin repeat-containing SOCS box protein 3 ASB3 51130 ENSG00000115239 Asb3 (MGI:1929749)
chr2 53767782 53775195 2p16.2 2p16.2 617446 CHAC2 ChaC, E. coli, homolog of, 2 CHAC2 494143 ENSG00000143942 Chac2 (MGI:1915294)
chr2 53786930 53834523 2p16.2 2p16.2 611229 ERLEC1, C2orf30 Erlectin (endoplasmic reticulum lectin 1) ERLEC1 27248 ENSG00000068912 Erlec1 (MGI:1914003)
chr2 53852912 53860032 2p16 2p16.2 606704 GPR75 G protein-coupled receptor 75 GPR75 10936 ENSG00000119737 Gpr75 (MGI:2441843)
chr2 53864066 53970839 2p16.2 2p16.2 607705 PSME4, PA200, KIAA0077 Proteasome activator subunit 4 PSME4 23198 ENSG00000068878 Psme4 (MGI:2143994)
chr2 53970837 54305299 2p16.2 2p16.2 102595 ACYP2, ACYP Acylphosphatase 2, muscle type ACYP2 98 ENSG00000170634 Acyp2 (MGI:1922822)
chr2 54456316 54671445 2p21 2p16.2 182790 SPTBN1 Spectrin, beta, nonerythrocytic-1 (beta-fodrin) SPTBN1 6711 ENSG00000115306 Sptbn1 (MGI:98388)
chr2 54700000 63900000 2p16.1-p15 612513 DEL2p16.1-p15, C2DELp161-p15 Chromosome 2p16.1-p15 deletion syndrome contiguous gene deletion syndrome Chromosome 2p16.1-p15 deletion syndrome, 612513 (4), Isolated cases
chr2 54700000 61000000 2p16.1 142335 HBFQTL5 Fetal hemoglobin quantitative trait locus 5 HPFH2 3247 associated with rs11886868 [Fetal hemoglobin QTL5], 142335 (2), Autosomal dominant
chr2 54972188 55137830 2p14-p13 2p16.1 604475 RTN4, NOGO Neurite outgrowth inhibitor (reticulon 4) RTN4 57142 ENSG00000115310 Rtn4 (MGI:1915835)
chr2 55231902 55235852 2p16.1 2p16.1 191343 RPS27A, UBA80, HUBCEP80, CEP80, UBCEP1 Ribosomal protein S27a RPS27A 6233 ENSG00000143947 Rps27a (MGI:1925544)
chr2 55235582 55269313 2p16-p14 2p16.1 603766 MTIF2 Mitochondrial translational initiation factor 2 MTIF2 4528 ENSG00000085760 Mtif2 (MGI:1924034)
chr2 55287816 55419920 2p16.1 2p16.1 609736 CCDC88A, KIAA1212, HKRP1, GIRDIN, APE, GIV, PEHOL Coiled-coil domain-containing protein 88A CCDC88A 55704 ENSG00000115355 mutation identified in 1 PEHOL family ?PEHO syndrome-like, 617507 (3), Autosomal recessive Ccdc88a (MGI:1925177)
chr2 55547291 55618131 2p16.1 2p16.1 610352 PPP4R3B, PP4R3B, SMEK2, KIAA1387 Protein phosphatase 4, regulatory subunit 3, beta PPP4R3B 57223 ENSG00000275052 Ppp4r3b (MGI:2144474)
chr2 55634062 55693909 2p16.1 2p16.1 610316 PNPT1, OLD35, COXPD13, DFNB70 Polyribonucleotide nucleotidyltransferase 1 PNPT1 87178 ENSG00000138035 Combined oxidative phosphorylation deficiency 13, 614932 (3), Autosomal recessive; Deafness, autosomal recessive 70, 614934 (3), Autosomal recessive Pnpt1 (MGI:1918951)
chr2 55865961 55924162 2p16 2p16.1 601548 EFEMP1, FBNL, DHRD EGF-containing fibulin-like extracellular matrix protein 1 (fibrillin-like) EFEMP1 2202 ENSG00000115380 Doyne honeycomb degeneration of retina, 126600 (3), Autosomal dominant Efemp1 (MGI:1339998)
chr2 55982966 55983075 2p16.1 2p16.1 615096 MIR217 Micro RNA 217 MIR217 406999
chr2 55988949 55989058 2p16.1 2p16.1 610944 MIR216, MIRN216 Micro RNA 216 MIR216A 406998
chr2 57907650 58164000 2p16-p15 2p16.1 602169 VRK2 Vaccinia-related kinase-2 VRK2 7444 ENSG00000028116 Vrk2 (MGI:1917172)
chr2 58159242 58241680 2p16.1 2p16.1 608111 PHF9, FANCL PHD finger protein 9 FANCL 55120 ENSG00000115392 Fanconi anemia, complementation group L, 614083 (3), Autosomal recessive Fancl (MGI:1914280)
chr2 60451166 60553497 2p16.1 2p16.1 606557 BCL11A, CTIP1, EVI9, KIAA1809, DILOS B-cell CLL/lymphoma 11A BCL11A 53335 ENSG00000119866 Dias-Logan syndrome, 617101 (3), Autosomal dominant Bcl11a (MGI:106190)
chr2 60756229 60802085 2p16.1 2p16.1 616865 PAPOLG Poly(A) polymerase, gamma PAPOLG 64895 ENSG00000115421 Papolg (MGI:2442119)
chr2 60881494 60928170 2p13-p12 2p16.1 164910 REL Oncogene REL, avian reticuloendotheliosis REL 5966 ENSG00000162924 Rel (MGI:97897)
chr2 60940217 61019692 2p16.1 2p16-p15 612787 PUS10, DOBI Pseudouridylate synthase 10 PUS10 150962 ENSG00000162927 Pus10 (MGI:1921717)
chr2 61017676 61051989 2p15 2p15 601789 PEX13, ZWS, NALD, PBD11A, PBD11B Peroxisome biogenesis factor 13 (peroxin 13) PEX13 5194 ENSG00000162928 Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3), Autosomal recessive; Peroxisome biogenesis disorder 11B, 614885 (3), Autosomal recessive Pex13 (MGI:1919379)
chr2 61187454 61470713 2p15 2p15 615295 USP34, KIAA0570 Ubiquitin-specific protease 34 USP34 9736 ENSG00000115464 Usp34 (MGI:109473)
chr2 61477933 61538521 2p16 2p15 602559 XPO1, CRM1 Exportin-1 (required for chromosome region maintenance) XPO1 7514 ENSG00000082898 Xpo1 (MGI:2144013)
chr2 61800239 61854142 2p15 2p15 613596 FAM161A, RP28 Family with sequence similarity 161, member A FAM161A 84140 ENSG00000170264 Retinitis pigmentosa 28, 606068 (3) Fam161a (MGI:1921123)
chr2 61868126 61888670 2p15 2p15 605142 CCT4, CCTD, SRB Chaperonin containing T-complex polypeptide 1, subunit 4 CCT4 10575 ENSG00000115484 Cct4 (MGI:104689)
chr2 61888722 62136069 2p16-p13 2p15 607238 COMMD1, MURR1 Copper metabolism Murr1 domain-containing 1 COMMD1 150684 ENSG00000173163 Commd1 (MGI:109474)
chr2 62196126 62224730 2p15 2p15 605581 B3GNT2, B3GNT1, B3GNT Beta-1,3-N-acetylglucosyaminyltransferase 2 B3GNT2 10678 ENSG00000170340 B3gnt2 (MGI:1889505)
chr2 62452777 62511893 2p15 2p15 614950 TMEM17 Transmembrane protein 17 TMEM17 200728 ENSG00000186889 Tmem17 (MGI:2144205)
chr2 62673850 63046486 2p15 2p15 609922 EHBP1, KIAA0903, HPC12 EH domain-binding protein 1 EHBP1 23301 ENSG00000115504 {Prostate cancer, hereditary, 12}, 611868 (3) Ehbp1 (MGI:2667252)
chr2 63050056 63057830 2p13 2p15 600036 OTX1 Orthodenticle, Drosophila, homolog of, 1 OTX1 5013 ENSG00000115507 Otx1 (MGI:97450)
chr2 63119558 63588798 2p15 2p15 613580 WDPCP, C2orf86, BBS15, CHDTHP WD repeat-containing planar cell polarity effector WDPCP 51057 ENSG00000143951 mutation identified in 1 BBS15 family and 1 CHDTHP patient ?Bardet-Biedl syndrome 15, 615992 (3), Autosomal recessive; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3), Autosomal recessive Wdpcp (MGI:2144467)
chr2 63588608 63607196 2p16 2p15 154200 MDH1 Malate dehydrogenase, soluble MDH1 4190 ENSG00000014641 proximal to APOB Mdh1 (MGI:97051)
chr2 63840963 63891561 2p14-p13 2p15 191760 UGP2, UGPP2 Uridyl diphosphate glucose pyrophosphorylase-2 UGP2 7360 ENSG00000169764 Ugp2 (MGI:2183447)
chr2 63892148 64019421 2p14 2p15-p14 614633 VPS54, VPS54L, WR Vacuolar protein sorting 54, S. Cerevisiae, homolog of VPS54 51542 ENSG00000143952 Vps54 (MGI:2178798)
chr2 63900000 71300000 2p14-p13.3 610071 HRPT3 Hyperparathyroidism 3 780919 between D2S2368 and D2S358 Hyperparathyroidism 3, 610071 (2)
chr2 63900000 74800000 2p14-p13 612853 RLS7 Restless legs syndrome, susceptibility to, 7 100302561 associated with rs2300478 {Restless legs syndrome 7}, 612853 (2)
chr2 64092651 64144470 2p13.3 2p14 614797 PELI1 Pellino, Drosophila, homolog of, 1 PELI1 57162 ENSG00000197329 Peli1 (MGI:1914495)
chr2 64454192 64461382 2p14 2p14 617902 LGALSL Galectin-like protein LGALSL 29094 ENSG00000119862 Lgalsl (MGI:1916114)
chr2 64631620 64751085 2p14 2p14 617851 SERTAD2, TRIPBR2, KIAA0127 SERTA domain-containing protein 2 SERTAD2 9792 ENSG00000179833 Sertad2 (MGI:1931026)
chr2 64988444 65023864 2p14 2p14 600229 SLC1A4, SATT, ASCT1, SPATCCM Solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 SLC1A4 6509 ENSG00000115902 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3), Autosomal recessive Slc1a4 (MGI:2135601)
chr2 65056360 65087007 2p14 2p14 616889 CEP68, KIAA0582 Centrosomal protein, 68kD CEP68 23177 ENSG00000011523 Cep68 (MGI:2667663)
chr2 65086853 65130300 2p14 2p14 179508 RAB1, RAB1A RAB1, member RAS oncogene family RAB1A 5861 ENSG00000138069 Rab1a (MGI:97842)
chr2 65227694 65271252 2p14 2p14 604221 ACTR2, ARP2 Actin-related protein 2 ACTR2 10097 ENSG00000138071 Actr2 (MGI:1913963)
chr2 65307424 65432521 2p14 2p14 609292 SPRED2 Sprouty-related EVH1 domain-containing protein 2 SPRED2 200734 ENSG00000198369 Spred2 (MGI:2150019)
chr2 66435399 66572758 2p14-p13 2p14 601739 MEIS1 Meis1, mouse, homolog of MEIS1 4211 ENSG00000143995
chr2 67397309 67410410 2p15-p13 2p14 613196 ETAA1, ETAA16 Ewing tumor-associated antigen 1 ETAA1 54465 ENSG00000143971 Etaa1 (MGI:1915395)
chr2 68042199 68063026 2p13-p12 2p14 606997 C1D, SUNCOR Nuclear DNA-binding protein C1D C1D 10438 ENSG00000197223 pseudogene on chr.10 C1d (MGI:1927354)
chr2 68130148 68157559 2q14 2p14 610729 WDR92, LOC116143, MONAD WD repeat-containing protein 92 WDR92 116143 ENSG00000243667 Wdr92 (MGI:2144224)
chr2 68178856 68252518 2p16-p15 2p14 601302 PPP3R1, CALNB1 Protein phosphatase-3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I) PPP3R1 5534 ENSG00000221823 Ppp3r1 (MGI:107172)
chr2 68365189 68397452 2p 2p14 173570 PLEK Pleckstrin PLEK 5341 ENSG00000115956 Plek (MGI:1860485)
chr2 68400000 74800000 2p13 602966 OFC2 Orofacial cleft-2 OFC2 4964 ?relation to TGFA Orofacial cleft-2, 602966 (2)
chr2 68400000 74800000 2p13 602404 PARK3 Parkinson disease 3 PARK3 5072 {Parkinson disease 3}, 602404 (2)
chr2 68400000 74800000 2p13 189800 PEE1, PREG1 Preeclampsia/eclampsia 1 PEE1 5177 ?distinct loci at 2p25 and 9p13 Preeclampsia/eclampsia 1, 189800 (2), Autosomal dominant
chr2 68467558 68580161 2p14 2p13.3 611035 AFPL, C2orf13 Aprataxin- and PNK-like factor APLF 200558 ENSG00000169621 Aplf (MGI:1919353)
chr2 68643587 68655575 2p13.3 2p13.3 607122 PROKR1, PKR1, GPR73 Prokineticin receptor 1 PROKR1 10887 ENSG00000169621 Prokr1 (MGI:1929676)
chr2 68710509 68826844 2p13 2p13.3 610587 ARHGAP25, KAIA0053 RHO GTPase-activating protein 25 ARHGAP25 9938 ENSG00000163219 Arhgap25 (MGI:2443687)
chr2 68860915 68871516 2p13.3 2p13.3 608748 BMP10 Bone morphogenetic protein 10 BMP10 27302 ENSG00000163217 Bmp10 (MGI:1338820)
chr2 68974572 68980979 2p13.3 2p13.3 606402 GKN1, CA11 Gastrokine 1 GKN1 56287 ENSG00000169605 Gkn1 (MGI:1913533)
chr2 69013143 69249326 2p13.1 2p13.3 606410 ANTXR1, TEM8, ATR, GAPO Anthrax toxin receptor 1 ANTXR1 84168 ENSG00000169604 mutation identified in 1 HCI patient GAPO syndrome, 230740 (3), Autosomal recessive; {?Hemangioma, capillary infantile, susceptibility to}, 602089 (3), Autosomal dominant Antxr1 (MGI:1916788)
chr2 69319768 69387253 2p13 2p13.3 138292 GFPT1, GFAT1, GFPT1L, MSLG, CMS12, CMSTA1 Glutamine-fructose-6-phosphate transaminase GFPT1 2673 ENSG00000198380 Myasthenia, congenital, 12, with tubular aggregates, 610542 (3), Autosomal recessive Gfpt1 (MGI:95698)
chr2 69396112 69439648 2p15-p13 2p13.3 608100 NFU1, HIRIP, MMDS1 NFU1 iron-sulfur cluster scaffold, S. cerevisiae, homolog of NFU1 27247 ENSG00000169599 Multiple mitochondrial dysfunctions syndrome 1, 605711 (3), Autosomal recessive Nfu1 (MGI:1913290)
chr2 69457994 69643844 2p13.3 2p13.3 616405 AAK1, KIAA1048 Adaptor protein 2-associated kinase 1 AAK1 22848 ENSG00000115977 Aak1 (MGI:1098687)
chr2 69643804 69826476 2p13 2p13.3 106491 ANXA4, ANX4 Annexin A4 (placental anticoagulant protein II) ANXA4 307 ENSG00000196975 Anxa4 (MGI:88030)
chr2 69915040 69942944 2p13 2p13.3 600021 MAD MAD protein (MAX-binding protein) MXD1 4084 ENSG00000059728 Mxd1 (MGI:96908)
chr2 69960088 69962264 2p13.1 2p13.3 611765 ASPRV1, SASP, TAPS, MUNO Aspartic peptidase, retroviral-like 1 ASPRV1 151516 ENSG00000244617 Asprv1 (MGI:1915105)
chr2 70087452 70089202 2p13-p12 2p13.3 601209 PCBP1 Poly(rC)-binding protein-1 PCBP1 5093 ENSG00000169564 Pcbp1 (MGI:1345635)
chr2 70209443 70248792 2p13 2p13.3 603518 TIA1, WDM TIA1 cytotoxic granule-associated RNA-binding protein TIA1 7072 ENSG00000116001 Welander distal myopathy, 604454 (3), Autosomal recessive, Autosomal dominant Tia1 (MGI:107914)
chr2 70258098 70281184 2p13.3 2p13.3 610995 PCYOX1, PCL1, KIAA0908 Prenylcysteine oxidase 1 PCYOX1 51449 ENSG00000116005 Pcyox1 (MGI:1914131)
chr2 70281361 70293770 2p13.3 2p13.3 603542 SNRPG Small nuclear ribonucleoprotein polypeptide G SNRPG 6637 ENSG00000143977
chr2 70295975 70302087 2p13.3 2p13.3 616275 FAM136A Family with sequence similarity 136, member A FAM136A 84908 ENSG00000035141 Fam136a (MGI:1913738)
chr2 70447279 70554014 2p13 2p13.3 190170 TGFA Transforming growth factor, alpha TGFA 7039 ENSG00000163235 Tgfa (MGI:98724)
chr2 70656783 70768242 2p14-p13 2p13.3 102681 ADD2 Adducin-2, beta ADD2 119 ENSG00000075340 Add2 (MGI:87919)
chr2 70777309 70790642 2p12 2p13.3 608697 FIGLA, POF6 Factor in germline alpha, mouse, homolog of FIGLA 344018 ENSG00000183733 Premature ovarian failure 6, 612310 (3), Autosomal dominant Figla (MGI:1349421)
chr2 70825247 70860786 2p13 2p13.3 604862 CD207, LANGERIN, CLEC4K CD207 antigen CD207 50489 ENSG00000116031 mutation identified in 1 patient [?Birbeck granule deficiency], 613393 (3) Cd207 (MGI:2180021)
chr2 70900550 70933916 2p13 2p13.3 604295 VAX2 Ventral anterior homeo box 2 VAX2 25806 ENSG00000116035 Vax2 (MGI:1346018)
chr2 70935867 70965430 2cen-q13 2p13.3 192132 ATP6B1, VPP3 ATPase, H+ transporting, lysosomal, beta polypeptide, 58kD (vacuolar proton pump, subunit 3) ATP6V1B1 525 ENSG00000116039 Renal tubular acidosis with deafness, 267300 (3), Autosomal recessive Atp6v1b1 (MGI:103285)
chr2 70977182 70986676 2p13.3 2p13.3 617009 ANKRD53 Ankyrin repeat domain-containing protein 53 ANKRD53 79998 ENSG00000144031 Ankrd53 (MGI:1922555)
chr2 71068277 71078867 2p13.3 2p13.3 606828 NAGK, GNK N-acetylglucosamine kinase NAGK 55577 ENSG00000124357 Nagk (MGI:1860418)
chr2 71109675 71130287 2p13.3 2p13.3 608419 MCEE Methylmalonyl-CoA epimerase MCEE 84693 ENSG00000124370 Methylmalonyl-CoA epimerase deficiency, 251120 (3), Autosomal recessive Mcee (MGI:1920974)
chr2 71182737 71227109 2p13.3 2p13.3 611018 PAIP2B Polyadenylate-binding protein-interacting protein 2B PAIP2B 400961 ENSG00000124374 Paip2b (MGI:2386865)
chr2 71276592 71435060 2p13.2 2p13.3-p13.2 614349 ZNF638, NP220 Zinc finger protein 638 ZNF638 27332 ENSG00000075292 Zfp638 (MGI:1203484)
chr2 71453153 71686762 2p13.3-p13.1 2p13.2 603009 DYSF, LGMD2B, MMD1 Dysferlin DYSF 8291 ENSG00000135636 Miyoshi muscular dystrophy 1, 254130 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, type 2B, 253601 (3), Autosomal recessive; Myopathy, distal, with anterior tibial onset, 606768 (3), Autosomal recessive Dysf (MGI:1349385)
chr2 72129237 72147861 2p13.2 2p13.2 605207 CYP26B1, CYP26A2, P450RAI2, RHFCA Cytochrome P450, subfamily XXVIB, polypeptide 1 CYP26B1 56603 ENSG00000003137 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 (3) Cyp26b1 (MGI:2176159)
chr2 72175983 72826041 2p13.2 2p13.2 607880 EXOC6B, SEC15B, KIAA0919 Exocyst complex component 6B EXOC6B 23233 ENSG00000144036 Exoc6b (MGI:1923164)
chr2 72887382 72892159 2p14-p12 2p13.2 182125 SPR Sepiapterin reductase SPR 6697 ENSG00000116096 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3), ?Autosomal dominant, Autosomal recessive Spr (MGI:103078)
chr2 72910948 72936690 2p14-p13 2p13.2 600034 EMX1 Empty spiracles, Drosophila, homolog of, 1 EMX1 2016 ENSG00000135638 close to VAX2 Emx1 (MGI:95387)
chr2 72942035 73071835 2p13 2p13.2 615572 SFXN5 Sideroflexin 5 SFXN5 94097 ENSG00000144040 Sfxn5 (MGI:2137681)
chr2 73073381 73113017 2p13-p12 2p13.2 605536 RAB11RIP5, RIP11, KIAA0857 Rab11 family-interacting protein 5 RAB11FIP5 26056 ENSG00000135631 Rab11fip5 (MGI:1098586)
chr2 73233424 73253021 2p13 2p13.2 605140 CCT7 Chaperonin containing T-complex polypeptide 1, subunit 7 CCT7 10574 ENSG00000135624 Cct7 (MGI:107184)
chr2 73254681 73284448 2p13.2 2p13.2 609108 FBXO41, FBX41, KIAA1940 F-box only protein 41 FBXO41 150726 ENSG00000163013 Fbxo41 (MGI:1261912)
chr2 73290928 73293700 2p13 2p13.2 128992 EGR4, NGFIC Early growth response-4 EGR4 1961 ENSG00000135625 Egr4 (MGI:99252)
chr2 73385757 73609918 2p13 2p13.1 606844 ALMS1, ALSS, KIAA0328 Alstrom syndrome gene ALMS1 7840 ENSG00000116127 Alstrom syndrome, 203800 (3), Autosomal recessive Alms1 (MGI:1934606)
chr2 73640722 73642409 2p13.1-p12 2p13.1 606716 NAT8, TSC510 N-acetyltransferase 8 NAT8 9027 ENSG00000144035 Nat8 (MGI:1915646)
chr2 73700508 73701339 2p13.1-p12 2p13.1 608190 NAT8B, CML2 N-acetyltransferase 8B NAT8B 51471 ENSG00000204872 Nat8f1 (MGI:1913366)
chr2 73729836 73737405 2p13.1 2p13.1 608680 TPRKB, GAMOS5 TP53RK-binding protein TPRKB 51002 ENSG00000144034 Galloway-Mowat syndrome 5, 617731 (3), Autosomal recessive Tprkb (MGI:1917036)
chr2 73762197 73780156 2p13.1 2p13.1 603092 DUSP11, PIR1 Dual specificity phosphatase-11, RNA/RNP complex-interacting DUSP11 8446 ENSG00000144048 Dusp11 (MGI:1919352)
chr2 73828910 73873660 2p13.1 2p13.1 606247 STAMBP, AMSH, MICCAP STAM binding protein STAMBP 10617 ENSG00000124356 Microcephaly-capillary malformation syndrome, 614261 (3), Autosomal recessive Stambp (MGI:1917777)
chr2 73892965 73919652 2p13.1 2p13.1 102545 ACTG2, ACTA3, VSCM Actin, gamma-2, smooth muscle, enteric ACTG2 72 ENSG00000163017 Visceral myopathy, 155310 (3), Autosomal dominant Actg2 (MGI:104589)
chr2 73926825 73958960 2p13 2p13.1 601465 DGUOK, DGK, MTDPS3, PEOB4, NCPH Deoxyguanosine kinase, mitochondrial DGUOK 1716 ENSG00000114956 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3), Autosomal recessive; Portal hypertension, noncirrhotic, 617068 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3), Autosomal recessive Dguok (MGI:1351602)
chr2 73982035 74135393 2p13.1 2p13.1 613555 TET3, KIAA0401 TET oncogene family, member 3 TET3 200424 ENSG00000187605 Tet3 (MGI:2446229)
chr2 74135400 74147911 2p13.1 2p13.1 613183 BOLA3, MMDS2 BolA, E. coli, homolog of, 3 BOLA3 388962 ENSG00000163170 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 (3), Autosomal recessive Bola3 (MGI:1925903)
chr2 74216241 74343406 2p13 2p13.1 606757 SLC4A5, NBC4 Solute carrier family 4, sodium bicarbonate cotransporter, member 5 SLC4A5 57835 ENSG00000188687 Slc4a5 (MGI:2443220)
chr2 74361153 74392086 2p13 2p13.1 601143 DCTN1, HMN7B Dynactin 1 (p150, glued, Drosophila, homolog of) DCTN1 1639 ENSG00000204843 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant; Neuropathy, distal hereditary motor, type VIIB, 607641 (3), Autosomal dominant; Perry syndrome, 168605 (3), Autosomal dominant Dctn1 (MGI:107745)
chr2 74425860 74441932 2p13 2p13.1 602288 RTKN Rhotekin RTKN 6242 ENSG00000114993 Rtkn (MGI:107371)
chr2 74455022 74457959 2p13 2p13.1 616456 INO80B, PAPA1, HMGA1L4 INO80 complex, subunit B INO80B 83444 ENSG00000115274 Ino80b (MGI:1917270)
chr2 74458399 74460890 2p12 2p13.1 606961 WBP1 WW domain-binding protein 1 WBP1 23559 ENSG00000239779 Wbp1 (MGI:104710)
chr2 74461056 74465409 2p13.1 2p13.1 601336 MOGS, GCS1, CDG2B Mannosyl-oligosaccharide glucosidase MOGS 7841 ENSG00000115275 Congenital disorder of glycosylation, type IIb, 606056 (3), Autosomal recessive Mogs (MGI:1929872)
chr2 74471957 74472814 2p12 2p13.1 611857 MRPL53 Mitochondrial ribosomal protein L53 MRPL53 116540 ENSG00000204822 pseudogene on 1 Mrpl53 (MGI:1915749)
chr2 74497516 74503315 2p13 2p13.1 607164 LBX2 Lady bird-like homeo box 2 LBX2 85474 ENSG00000179528 Lbx2 (MGI:1342288)
chr2 74514468 74517147 2p13.1-p12 2p13.1 604240 TLX2, HOX11L1 T-cell leukemia, homeobox 2 TLX2 3196 ENSG00000115297 Tlx2 (MGI:1350935)
chr2 74526647 74529896 2p13 2p13.1 602434 AUP1 Ancient ubiquitous protein 1 AUP1 550 ENSG00000115307 Aup1 (MGI:107789)
chr2 74529404 74533555 2p12 2p13.1 606441 HTRA2, OMI, PARK13, PRSS25, MGCA8 HTRA serine peptidase 2 HTRA2 27429 ENSG00000115317 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive; {Parkinson disease 13}, 610297 (3) Htra2 (MGI:1928676)
chr2 74532257 74555718 2p13.3 2p13.1 607163 LOXL3 Lysyl oxidase-like 3 LOXL3 84695 ENSG00000115318 Loxl3 (MGI:1337004)
chr2 74549019 74557550 2p13 2p13.1 602919 DOK1 Downstream of tyrosine kinase 1 DOK1 1796 ENSG00000115325 Dok1 (MGI:893587)
chr2 74654227 74699012 2p13 2p13.1 603706 SEMAW Semaphorin W SEMA4F 10505 ENSG00000135622 Sema4f (MGI:1340055)
chr2 74800000 83100000 2p12 607304 CTRCT27, CCNP Cataract 27, nuclear progressive 266979 near D2S2333 Cataract 27, nuclear progressive, 607304 (2)
chr2 74800000 91800000 2p12-p11.2 613564 DEL2p12p11.2, C2DELp12p11.2 Chromosome 2p12-p11.2 deletion syndrome contiguous gene deletion syndrome Chromosome 2p12-p11.2 deletion syndrome, 613564 (4)
chr2 74800000 83100000 2p12 608394 DFNA43 Deafness, autosomal dominant 43 DFNA43 192676 max lod at D2S139 Deafness, autosomal dominant 43, 608394 (2), Autosomal dominant
chr2 74800000 147900000 2p12-q22 139900 HSR Hand skill, relative 338386 [Handedness], 139900 (2), Autosomal dominant
chr2 74800000 83100000 2p12 146970 IGKJ@ Immunoglobulin kappa light chain joining gene cluster 7842 5 genes
chr2 74800000 83100000 2p12 146980 IGKV@ Immunoglobulin kappa light chain variable gene cluster 3519 25+ genes in 4 classes; orphon gene 1.5Mb telomeric of IGKC
chr2 74832654 74893353 2p12 2p12 601125 HK2 Hexokinase-2, muscle HK2 3099 ENSG00000159399 no recombination with TGFA Hk2 (MGI:1315197)
chr2 74958642 74969731 2p12 2p12 607269 POLE4 Polymerase, DNA, epsilon-4 POLE4 56655 ENSG00000115350 Pole4 (MGI:1914229)
chr2 75046462 75199518 2p11 2p12 162323 TACR1, TAC1R, NK1R Tachykinin receptor 1 (substance P receptor; neurokinin-1 receptor) TACR1 6869 ENSG00000115353 Tacr1 (MGI:98475)
chr2 75646782 75662207 2p11.2-q11.2 2p12 611832 MRPL19, MRPL15, KIAA0104 Mitochondrial ribosomal protein L19 MRPL19 9801 ENSG00000115364 Mrpl19 (MGI:1926274)
chr2 75655605 75711641 2p11.2-p11.1 2p12 189901 C2orf3, TCF9, GCF GC factor GCFC2 6936 ENSG00000005436 Gcfc2 (MGI:2141656)
chr2 76747722 77522432 2p12 2p12 610870 LRRTM4 Leucine-rich repeat transmembrane protein 4 LRRTM4 80059 ENSG00000176204 Lrrtm4 (MGI:2389180)
chr2 79025663 79028503 2p12 2p12 609933 REG3G, PAP1B Regenerating islet-derived 3-gamma REG3G 130120 ENSG00000143954 Reg3g (MGI:109406)
chr2 79085022 79088023 2p12 2p12 167771 REGL, PSPS2 Regenerating islet-derived, rat, homolog-like (pancreatic stone protein-like; pancreatic thread protein-like) REG1B 5968 ENSG00000172023 Reg2 (MGI:97896)
chr2 79120457 79123418 2p12 2p12 167770 REG1A, PSPS1, REG Regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein) REG1A 5967 ENSG00000115386 Reg1 (MGI:97895)
chr2 79157005 79159753 2p12 2p12 167805 PAP Pancreatitis-associated protein REG3A 5068 ENSG00000172016 Reg3b (MGI:97478)
chr2 79505053 80648867 2p12-p11.1 2p12 114025 CTNNA2, CAPR, CTNR Catenin, alpha-2 (cadherin-associated protein, related) CTNNA2 1496 ENSG00000066032 Ctnna2 (MGI:88275)
chr2 80301877 80304427 2p12 2p12 610867 LRRTM1 Leucine-rich repeat transmembrane protein 1 LRRTM1 347730 ENSG00000162951 Lrrtm1 (MGI:2389173)
chr2 84423522 84459461 2p11.2 2p11.2 611224 SUCLG1, SUCLA1, MTDPS9 Succinate-CoA ligase, alpha subunit SUCLG1 8802 ENSG00000163541 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3), Autosomal recessive Suclg1 (MGI:1927234)
chr2 84459571 84819588 2p11.2 2p11.2 603336 DNAH6, HL2 Dynein, axonemal, heavy chain 6 DNAH6 1768 ENSG00000115423 Dnah6 (MGI:107744)
chr2 84821649 84881974 2p11.2 2p11.2 614912 TRABD2A, TIKI1 TRAB domain-containing protein 2A TRABD2A 129293 ENSG00000186854
chr2 84905638 84906674 2p11.2 2p11.2 188399 TMSB10 Thymosin, beta-10 TMSB10 9168 ENSG00000034510
chr2 84971107 85059471 2p11.2 2p11.2 614719 KCMF1, DEBT91, FIGC Potassium channel modulatory factor 1 KCMF1 56888 ENSG00000176407 Kcmf1 (MGI:1921537)
chr2 85133459 85310387 2p11.2 2p11.2 604652 TCF7L1 Transcription factor 7-like 1 TCF7L1 83439 ENSG00000152284 Tcf7l1 (MGI:1202876)
chr2 85318017 85328295 2p11.2 2p11.2 603062 TGOLN2, TGN46, TGN38 Trans-golgi network protein 2, 46kD TGOLN2 10618 ENSG00000152291
chr2 85341954 85354697 2p11.2 2p11.2 617597 RETSAT Retinol saturase RETSAT 54884 ENSG00000042445 Retsat (MGI:1914692)
chr2 85354393 85391751 2p11.3 2p11.2 615427 ELMOD3, RBED1, DFNB88 ELMO/CED12 domain-containing protein 3 ELMOD3 84173 ENSG00000115459 one family identified with mutation ?Deafness, autosomal recessive 88, 615429 (3), Autosomal recessive Elmod3 (MGI:2445168)
chr2 85394747 85418466 2cen-q24 2p11.2 153615 CAPG Capping protein (actin filament), gelsolin-like CAPG 822 ENSG00000042493 Capg (MGI:1098259)
chr2 85537466 85538885 2p11.2 2p11.2 616350 PARTICL Promoter of MAT2A antisense radiation-induced circulating long noncoding RNA PARTICL 100630918 overlaps promoter of MAT2A on opposite strand
chr2 85538977 85545279 2p11.2 2p11.2 601468 MAT2A, MATA2, SAMS2 Methionine adenosyltransferase II, alpha MAT2A 4144 ENSG00000168906 Mat2a (MGI:2443731)
chr2 85544719 85561533 2p12 2p11.2 137167 GGCX, VKCFD1 Gamma-glutamyl carboxylase GGCX 2677 ENSG00000115486 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3); Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3), Autosomal recessive Ggcx (MGI:1927655)
chr2 85577490 85582032 2p12-p11.2 2p11.2 603177 VAMP8 Vesicle-associated membrane protein 8 VAMP8 8673 ENSG00000118640 Vamp8 (MGI:1336882)
chr2 85584407 85593387 2p11.2 2p11.2 607029 VAMP5 Vesicle-associated membrane protein 5 (myobrevin) VAMP5 10791 ENSG00000168899 Vamp5 (MGI:1858622)
chr2 85593822 85597707 2p11.2 2p11.2 612490 RNF181 Ring finger protein 181 RNF181 51255 ENSG00000168894 Rnf181 (MGI:1913760)
chr2 85598546 85602698 2p11.2 2p11.2 616757 TMEM150A, TMEM150 Transmembrane protein 150A TMEM150A 129303 ENSG00000168890 Tmem150a (MGI:2385244)
chr2 85602841 85649283 2p11.2 2p11.2 611594 USP39, SAD1 Ubiquitin-specific protease 39 USP39 10713 ENSG00000168883 Usp39 (MGI:107622)
chr2 85657316 85668740 2p12-p11.2 2p11.2 178640 SFTPB, SFTB3, SMDP1 Pulmonary surfactant-associated protein B, 18kD SFTPB 6439 ENSG00000168878 Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3), Autosomal recessive Sftpb (MGI:109516)
chr2 85694290 85698853 2p12-q11 2p11.2 188855 GNLY, D2S69E, TLA519 Granulysin (T-lymphocyte activation gene 519) GNLY 10578 ENSG00000115523
chr2 85839132 85889033 2p11.2 2p11.2 604402 SIAT9, ST3GALV, SPDRS Sialyltransferase 9 ST3GAL5 8869 ENSG00000115525 Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive St3gal5 (MGI:1339963)
chr2 86020215 86106154 2p11.2 2p11.2 616404 POLR1A, RPA194, AFDCIN Polymerase I, RNA, subunit A POLR1A 25885 ENSG00000068654 Acrofacial dysostosis, Cincinnati type, 616462 (3), Autosomal dominant Polr1a (MGI:1096397)
chr2 86106181 86142156 2p11.2 2p11.2 614918 PTCD3 Pentatricopeptide repeat domain-containing protein 3 PTCD3 55037 ENSG00000132300 Ptcd3 (MGI:1917206)
chr2 86143931 86195769 2p11.2 2p11.2 600378 IMMT, HMP Inner membrane protein, mitochondrial (mitofilin) IMMT 10989 ENSG00000132305 pseudogene on chr.21 Immt (MGI:1923864)
chr2 86199432 86213797 2p11.2 2p11.2 611841 MRPL35 Mitochondrial ribosomal protein L35 MRPL35 51318 ENSG00000132313 pseudogenes on 6, 10, and X Mrpl35 (MGI:1913473)
chr2 86213992 86338082 2p11.2 2p11.2 609139 REEP1, C2orf23, SPG31, HMN5B Receptor expression-enhancing protein 1 REEP1 65055 ENSG00000068615 mutation identified in 1 HMN5B family ?Neuronopathy, distal hereditary motor, type VB, 614751 (3), Autosomal dominant; Spastic paraplegia 31, autosomal dominant, 610250 (3), Autosomal dominant Reep1 (MGI:1098827)
chr2 86440646 86492715 2p11.2 2p11.2 611512 KDM3A, JMJD1A, JHDM2A, TSGA, KIAA0742 Lysine-specific demethylase 3A KDM3A 55818 ENSG00000115548 Kdm3a (MGI:98847)
chr2 86503429 86563496 2p24 2p11.2 610052 VPS24, CHMP3, NEDF Vacuolar protein sorting 24, yeast, homolog of CHMP3 51652 ENSG00000115561 Chmp3 (MGI:1913950)
chr2 86603392 86623876 2p11.2 2p11.2 602507 ZFP103, KF1 Zinc finger protein 103, mouse, homolog of RNF103 7844 ENSG00000239305 Rnf103 (MGI:109483)
chr2 86784604 86808395 2p12 2p11.2 186910 CD8A CD8 antigen, alpha polypeptide (p32) CD8A 925 ENSG00000153563 distal to IGK CD8 deficiency, familial, 608957 (3), Autosomal recessive Cd8a (MGI:88346)
chr2 86815336 86861923 2p12 2p11.2 186730 CD8B1, CD8B CD8 antigen, beta polypeptide 1 (p37) CD8B 926 ENSG00000172116 pseudogene, CD8B2, on 2q12 Cd8b1 (MGI:88347)
chr2 86913576 87013975 2p11.2 2p11.2 612704 RGPD1, RGP1 RANBP2-like and GRIP domain-containing protein 1 RGPD1 400966 ENSG00000187627 Ranbp2 (MGI:894323)
chr2 87010463 87021845 2p11-q11 2p11.2 173340 PLGLB1, PLGL, PRGB Plasminogen-like B1 PLGLB1 5343 ENSG00000183281
chr2 87757197 87992818 2p11.2 2p11.2 612705 RGPD2, RGP2 RANBP2-like and GRIP domain-containing protein 2 RGPD2 729857 ENSG00000185304 Ranbp2 (MGI:894323)
chr2 88067779 88113383 2p11.2 2p11.2 606846 SMYD1, BOP, ZMYND18 SET and MYND domain-containing protein 1 SMYD1 150572 ENSG00000115593 Smyd1 (MGI:104790)
chr2 88122981 88128130 2p11 2p11.2 134650 FABP1 Fatty acid-binding protein, liver FABP1 2168 ENSG00000163586 Fabp1 (MGI:95479)
chr2 88170294 88186636 2p11.2 2p11.2 611261 THNSL2, THS2 Threonine synthase-like 2 THNSL2 55258 ENSG00000144115 Thnsl2 (MGI:3041254)
chr2 88446786 88452534 2p11.2 2p11.2 612351 FOXI3 Forkhead box I3 FOXI3 344167 ENSG00000214336 Foxi3 (MGI:3511278)
chr2 88556739 88627575 2p12 2p11.2 604032 EIF2AK3, PEK, PERK, WRS Eukaryotic translation initiation factor 2-alpha kinase 3 EIF2AK3 9451 ENSG00000172071 Wolcott-Rallison syndrome, 226980 (3), Autosomal recessive Eif2ak3 (MGI:1341830)
chr2 88691657 88750934 2p11.2 2p11.2 180430 RPIA, RPI, RPIAD Ribose 5-phosphate isomerase A RPIA 22934 ENSG00000153574 mutation identified in 1 RPAID patient ?Ribose 5-phosphate isomerase deficiency, 608611 (3), Autosomal recessive Rpia (MGI:103254)
chr2 88832221 88833330 2p12 2p11.2 146780 IGKDEL Immunoglobulin kappa polypeptide deleting element IGKDEL 3515
chr2 88857360 88857682 2p12 2p11.2 147200 IGKC, IGKCD Immunoglobulin kappa constant region IGKC 3514 Kappa light chain deficiency, 614102 (3), Autosomal recessive
chr2 93900000 242193529 2q 606053 AUTS5 Autism, susceptibility to, 5 94313 max lod at D2S188 {Autism susceptibility 5}, 606053 (2), Autosomal recessive, Autosomal dominant
chr2 93900000 108700000 2q11-q12 612006 CELIAC8 Celiac disease, susceptibility to, 8 100188870 associated with rs917997 and rs13015714 {Celiac disease, susceptibility to, 8}, 612006 (2)
chr2 93900000 242193529 2q 606963 COPD Pulmonary disease, chronic obstructive, severe early-onset 260431 ?SERPINE2 Pulmonary disease, chronic obstructive, severe early-onset, 606963 (2)
chr2 93900000 112200000 2cen-q13 606689 GLC1B Glaucoma 1, open angle, B (adult-onset) GLC1B 2722 Glaucoma 1B, primary open angle, adult onset, 606689 (2)
chr2 93900000 129100000 2q11-q14 611897 NNO3 Nanophthalmos 3 100187717 max lod at D2S2265 Nanophthalmos 3, 611897 (2)
chr2 95025654 95053991 2cen-q13 2q11.1 188860 MAL T-lymphocyte maturation-associated protein MAL 4118 ENSG00000172005 Mal (MGI:892970)
chr2 95085390 95122026 2p11.2-q11.2 2q11.1 611972 MRPS5 Mitochondrial ribosomal protein S5 MRPS5 64969 ENSG00000144029 Mrps5 (MGI:1924971)
chr2 95165416 95184316 2q11.2 2q11.1 194500 ZNF2 Zinc finger protein-2 ZNF2 7549 ENSG00000275111 Zfp661 (MGI:1919430)
chr2 95274447 95291319 2q11.1 2q11.1 617160 PROM2, PROML2 Prominin 2 PROM2 150696 ENSG00000155066 Prom2 (MGI:2138997)
chr2 95297323 95386076 2q11.1 2q11.1 604662 KCNIP3, KCHIP3, CSEN, DREAM Potassium channel-interacting protein 3 KCNIP3 30818 ENSG00000115041 Kcnip3 (MGI:1929258)
chr2 96021945 96035973 2q11.2 2q11.2 616431 GPAT2 Glycerol-3-phosphate acyltransferase 2, mitochondrial GPAT2 150763 ENSG00000186281 Gpat2 (MGI:2684962)
chr2 96112874 96116244 2q11.2 2q11.2 104260 ADRA2B, ADRA2L1, FAME2 Adrenergic, alpha-2B-, receptor ADRA2B 151 ENSG00000274286 Epilepsy, myoclonic, familial adult, 2, 607876 (3), Autosomal dominant Adra2b (MGI:87935)
chr2 96143165 96145467 2q11 2q11.2 603068 DUSP2, PAC1 Dual-specificity phosphatase-2 DUSP2 1844 ENSG00000158050 Dusp2 (MGI:101911)
chr2 96184858 96208845 2q11.2 2q11.2 616712 STARD7, GTT1 START domain-containing protein 4 STARD7 56910 ENSG00000084090 Stard7 (MGI:2139090)
chr2 96248513 96266012 2q11 2q11.2 613403 TMEM127 Transmembrane protein 127 TMEM127 55654 ENSG00000135956 {Pheochromocytoma, susceptibility to}, 171300 (3), Autosomal dominant Tmem127 (MGI:1916720)
chr2 96266145 96274178 2q11.2 2q11.2 604333 CIAO1, WDR39 WD repeat-containing protein CIAO1 CIAO1 9391 ENSG00000144021 Ciao1 (MGI:1346998)
chr2 96274335 96305568 2q11.2 2q11.2 601664 SNRNP200, ASCC3L1, KIAA0788, RP33 Small nuclear ribonucleoprotein 200kD (U5) SNRNP200 23020 ENSG00000144028 Retinitis pigmentosa 33, 610359 (3), Autosomal dominant Snrnp200 (MGI:2444401)
chr2 96335740 96377094 2q11.2 2q11.2 602332 BRRN1 Barren, Drosophila, homolog of, 1 NCAPH 23397 ENSG00000121152 Ncaph (MGI:2444777)
chr2 96497642 96508156 2p11 2q11.2 617206 NEURL3, LINCR Neuralized E3 ubiquitin protein ligase 3 NEURL3 93082 ENSG00000163121 Neurl3 (MGI:2429944)
chr2 96536718 96552637 2q11.2 2q11.2 611583 ARID5A, MRF1 AT-rich interactive domain-containing protein 5A ARID5A 10865 ENSG00000196843 Arid5a (MGI:2443039)
chr2 96593154 96638378 2q11.2 2q11.2 617742 KANSL3, NSL3, KIAA1310 Kat8 regulatory NSL complex, subunit 3 KANSL3 55683 ENSG00000114982 Kansl3 (MGI:1918055)
chr2 96705928 96740091 2q11.2 2q11.2 609552 LMAN2L, VIPL, MRT52 LMAN2-like protein LMAN2L 81562 ENSG00000114988 mutation identified in 1 MRT52 family ?Mental retardation, autosomal recessive, 52, 616887 (3), Autosomal recessive Lman2l (MGI:2443010)
chr2 96760901 96811890 2q11.2 2q11.2 607805 CNNM4, ACDP4 Cyclin M4 CNNM4 26504 ENSG00000158158 Jalili syndrome, 217080 (3), Autosomal recessive Cnnm4 (MGI:2151060)
chr2 96814945 96837108 2q11.2 2q11.2 607804 CNNM3, ACDP3 Cyclin M3 CNNM3 26505 ENSG00000168763 previously assigned to 2p12-p11.2 Cnnm3 (MGI:2151055)
chr2 96837913 96844020 2p11.2-q11.1 2q11.2 610736 ANKRD23, DARP Ankyrin repeat domain-containing protein 23 ANKRD23 200539 ENSG00000163126 Ankrd23 (MGI:1925571)
chr2 96859735 96870942 5p15.3 2q11.2 604462 SEMA4C, SEMAF, KIAA1739 Semaphorin 4C SEMA4C 54910 ENSG00000168758 Sema4c (MGI:109252)
chr2 97646057 97648193 2cen-q13 2q11.2 123866 COX5B Cytochrome c oxidase, subunit Vb COX5B 1329 ENSG00000135940 7 pseudogenes on 4, 6, 7, 11, 12, 13, and 22
chr2 97655938 97664097 2q11.1-q11.2 2q11.2 605144 ACTR1B, ARP1B, CTRN2 Actin-related protein 1B ACTR1B 10120 ENSG00000115073 Actr1b (MGI:1917446)
chr2 97712029 97744326 2q12 2q11.2 176947 ZAP70, SRK, ADMIO2, IMD48 Zeta-chain associated protein kinase, 70kD (syk-related tyrosine kinase) ZAP70 7535 ENSG00000115085 Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3), Autosomal recessive; Immunodeficiency 48, 269840 (3), Autosomal recessive Zap70 (MGI:99613)
chr2 97756335 97996181 2q11.2 2q11.2 615659 TMEM131, KIAA0257, CC28 Transmembrane protein 131 TMEM131 23505 ENSG00000075568 Tmem131 (MGI:1927110)
chr2 98087131 98330681 2q11.2 2q11.2 614884 VWA3B, SCAR22 von Willebrand factor A domain-containing protein 3B VWA3B 200403 ENSG00000168658 mutation identified in 1 SCAR22 family ?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3), Autosomal recessive Vwa3b (MGI:1918103)
chr2 98346154 98399153 2q11 2q11.2 600053 CNGA3, CNG3, ACHM2 Cyclic nucleotide-gated channel, alpha-3 CNGA3 1261 ENSG00000144191 Achromatopsia 2, 216900 (3), Autosomal recessive Cnga3 (MGI:1341818)
chr2 98444537 98594067 2q11.2 2q11.2 600916 INPP4A, INPP4 Inositol polyphosphate-4-phosphatase, type I, 107kD INPP4A 3631 ENSG00000040933 Inpp4a (MGI:1931123)
chr2 98599322 98608517 2q11.2 2q11.2 613920 COA5, C2orf64, PET191, CEMCOX3 Cytochrome c oxidase assembly factor 5 COA5 493753 ENSG00000183513 mutation identified in 1 CEMCOX3 family ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 (3), Autosomal recessive Coa5 (MGI:1923428)
chr2 98608547 98618514 2q11.2 2q11.2 617826 UNC50, UNCL, GMH1 Unc50, inner nuclear membrane RNA-binding protein UNC50 25972 ENSG00000115446 Unc50 (MGI:1914637)
chr2 98619105 98731125 2q12 2q11.2 604623 MGAT4A Alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A MGAT4A 11320 ENSG00000071073 Mgat4a (MGI:2662992)
chr2 98997260 99154965 2q11.2 2q11.2 607166 TSGA10 Testis-specific protein 10 TSGA10 80705 ENSG00000135951 Tsga10 (MGI:2685063)
chr2 99154954 99163156 2q11.2 2q11.2 610284 LIPT1, LIPT1D Lipoyltransferase 1 LIPT1 51601 ENSG00000144182 Lipoyltransferase 1 deficiency, 616299 (3), Autosomal recessive Lipt1 (MGI:3645211)
chr2 99181078 99199556 2q11.2 2q11.2 611838 MRPL30, MRPL28 Mitochondrial ribosomal protein L30 MRPL30 51263 ENSG00000185414 Mrpl30 (MGI:1333820)
chr2 99242245 99260014 2q11.2 2q11.2 616547 LYG2, LYSG2 Lysozyme G-like 2 LYG2 254773 ENSG00000185674 Lyg2 (MGI:2685622)
chr2 99306183 99336396 2q11.2 2q11.2 612564 TXNDC9, PHLP3 Thioredoxin domain-containing protein 9 TXNDC9 10190 ENSG00000115514 Txndc9 (MGI:2138153)
chr2 99400474 99490122 2q11.2 2q11.2 606134 REV1L, REV1 Rev1, S. cerevisiae, homolog of REV1 51455 ENSG00000135945 Rev1 (MGI:1929074)
chr2 99545860 100142582 2q11.2-q12 2q11.2 601464 LAF4 Lymphoid nuclear protein related to AF4 AFF3 3899 ENSG00000144218 Aff3 (MGI:106927)
chr2 100391859 100417667 2q11.2 2q11.2 606376 CHST10, HNK1ST Carbohydrate sulfotransferase 10 CHST10 9486 ENSG00000115526 Chst10 (MGI:2138283)
chr2 100562955 100577471 2q11.2 2q11.2 611678 PDCL3, PHLP3, VIAF Phosducin-like 3 PDCL3 79031 ENSG00000115539 Pdcl3 (MGI:1916083)
chr2 100820150 100996828 2q13 2q11.2 603347 NPAS2, MOP4 Neuronal PAS domain protein 2 NPAS2 4862 ENSG00000170485 Npas2 (MGI:109232)
chr2 101002228 101019692 2q11.2 2q11.2 617415 RPL31 Ribosomal protein L31 RPL31 6160 ENSG00000071082 Rpl31 (MGI:2149632)
chr2 101697702 101894689 2q11.2 2q11.2 604666 MAP4K4, HGK, NIK, KIAA0687 Mitogen-activated protein kinase kinase kinase kinase 4 MAP4K4 9448 ENSG00000071054 Map4k4 (MGI:1349394)
chr2 101991804 102028543 2q12-q22 2q11.2 147811 IL1R2, IL1RB Interleukin-1 receptor, type II IL1R2 7850 ENSG00000115590 Il1r2 (MGI:96546)
chr2 102069637 102179873 2q12 2q11.2-q12.1 147810 IL1R1, IL1RA Interleukin-1 receptor, type I IL1R1 3554 ENSG00000115594 Il1r1 (MGI:96545)
chr2 102100000 129100000 2q12-q14 147185 IGKV1OR2-108, IGO1 Immunoglobulin orphon (transposed element) 1 IGKV1OR2-108 28862
chr2 102100000 105300000 2q12.1 617071 LNC13 Long noncoding RNA 13
chr2 102186972 102242909 2q12 2q12.1 604512 IL1RL2, IL1RRP2 Interleukin 1 receptor-like 2 IL1RL2 8808 ENSG00000115598 Il1rl2 (MGI:1913107)
chr2 102311501 102352366 2q11.2 2q12.1 601203 IL1RL1 Interleukin 1 receptor-like 1 IL1RL1 9173 ENSG00000115602 Il1rl1 (MGI:98427)
chr2 102355800 102398776 2q12 2q12.1 604494 IL18R1, IL1RRP Interleukin 18 receptor 1 IL18R1 8809 ENSG00000115604 Il18r1 (MGI:105383)
chr2 102418549 102452567 2q12 2q12.1 604509 IL18RAP, ACPL Interleukin 18 receptor accessory protein IL18RAP 8807 ENSG00000115607 Il18rap (MGI:1338888)
chr2 102473281 102533973 2q12.1 2q12.1 600531 SLC9A4, NHE4 Solute carrier family 9 (sodium/hydrogen exchanger), member 4 SLC9A4 389015 ENSG00000180251 Slc9a4 (MGI:105074)
chr2 102619533 102711349 2q11.2 2q12.1 600530 SLC9A2 Solute carrier family 9 (sodium/hydrogen exchanger), member 2 SLC9A2 6549 ENSG00000115616 Slc9a2 (MGI:105075)
chr2 104854067 104858573 2q12.1 2q12.1 602480 POU3F3 POU domain, class 3, transcription factor-3 POU3F3 5455 ENSG00000198914 previously mapped to 3p14.2 Pou3f3 (MGI:102564)
chr2 105037468 105099959 2q12.1 2q12.1 611975 MRPS9 Mitochondrial ribosomal protein S9 MRPS9 64965 ENSG00000135972 Mrps9 (MGI:1916777)
chr2 105241742 105243466 2q11.2-q12 2q12.1 604838 GPR45 G protein-coupled receptor 45 GPR45 11250 ENSG00000135973 Gpr45 (MGI:2135882)
chr2 105249422 105329713 2q12.1 2q12.1-q12.2 606237 TGFBRAP1, TRAP1 Transforming growth factor-beta receptor-associated protein 1 TGFBRAP1 9392 ENSG00000135966 Tgfbrap1 (MGI:2447427)
chr2 105360825 105438772 2q12-q14 2q12.2 602633 FHL2, DRAL Four and a half LIM domains-2 (Down-regulated in rhabdomyosarcoma LIM protein) FHL2 2274 ENSG00000115641 Fhl2 (MGI:1338762)
chr2 105744648 105894273 2q12 2q12.2 604930 NCK2 NCK adaptor protein 2 NCK2 8440 ENSG00000071051 Nck2 (MGI:1306821)
chr2 106063289 106078154 2q14.1-q14.3 2q12.2 611752 C2orf40, ECRG4 Esophageal cancer-related gene 4 C2orf40 84417 ENSG00000119147 1500015O10Rik (MGI:1926146)
chr2 106093302 106194338 2q12 2q12.2 609749 UXS1, UGD UDP-glucuronate decarboxylase 1 UXS1 80146 ENSG00000115652 Uxs1 (MGI:1915133)
chr2 106382113 106391394 2q12.2 2q12.2 612212 PLGLA, PRGA Plasminogen-like A PLGLA 285189
chr2 106404679 106470934 2q12.3-q13 2q12.2 612706 RGPD3, RGP3 RANBP2-like and GRIP domain-containing protein 3 RGPD3 653489 ENSG00000153165 Ranbp2 (MGI:894323)
chr2 106700000 112200000 2q12.3-q13 612710 RGPD7, RGP7 RANBP2-like and GRIP domain-containing protein 7
chr2 106801599 106887409 2q11.2-q12.1 2q12.3 608472 ST6GALII, KIAA1877 Beta-galactoside alpha-2,6-sialyltransferase II ST6GAL2 84620 ENSG00000144057 St6gal2 (MGI:2445190)
chr2 107826920 107892543 2q12.3-q13 2q12.3 612707 RGPD4, RGP4 RANBP2-like and GRIP domain-containing protein 4 RGPD4 285190 ENSG00000196862 Ranbp2 (MGI:894323)
chr2 107986513 108014496 2q12.3 2q12.3 608761 SLC5A7, CHT1, HMN7A, CMS20 Solute carrier family 5 (choline transporter), member 7 SLC5A7 60482 ENSG00000115665 Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive; Neuronopathy, distal hereditary motor, type VIIA, 158580 (3), Autosomal dominant Slc5a7 (MGI:1927126)
chr2 108239991 108265607 2q12.2 2q12.3 617151 SULT1C3 Sulfotransferase family 1C, member 3 SULT1C3 442038 ENSG00000196228 Sult1c1 (MGI:102928)
chr2 108288638 108309914 2q11.1-q11.2 2q12.3 602385 SULT1C1 Sulfotransferase 1C1 SULT1C2 6819 ENSG00000198203 Sult1c2 (MGI:1916333)
chr2 108377910 108388988 2q11.2 2q12.3 608357 SULT1C2 Sulfotransferase family 1C, member 2 SULT1C4 27233 ENSG00000198075
chr2 108448560 108509397 2q12.3 2q12.3 612711 GCC2, GCC185, KIAA0336 GRIP and coiled-coil domains-containing protein 2 GCC2 9648 ENSG00000135968 Gcc2 (MGI:1917547)
chr2 108700000 112200000 2q13 257550 COMA Cogan-type congenital oculomotor apraxia 266710 independent gene or feature of nephronophthisis Oculomotor apraxia, congenital, Cogan-type, 257550 (2), Autosomal recessive
chr2 108719445 109842300 2q11-q13 2q13 601181 RANBP2, NUP358, ANE1, IIAE3 RAN-binding protein 2 RANBP2 5903 ENSG00000153201 {Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3), Autosomal dominant
chr2 108894470 108989371 2q11-q13 2q13 604095 EDAR, DL, ED3, EDA3, HRM1, ECTD10A, ECTD10B Ectodysplasin 1, anhidrotic receptor (downless, mouse, homolog of) EDAR 10913 ENSG00000135960 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3), Autosomal dominant; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3), Autosomal recessive; [Hair morphology 1, hair thickness], 612630 (3) Edar (MGI:1343498)
chr2 109542796 109614205 2q13 2q13 611737 SEPT10 Septin 10 SEPT10 151011 ENSG00000186522 pseudogene on 8q22.1-q12 Sept10 (MGI:1918110)
chr2 109760593 109857690 2q12.3-q13 2q13 612708 RGPD5, RGP5, BS63 RANBP2-like and GRIP domain-containing protein 5 RGPD5 84220 ENSG00000015568 Ranbp2 (MGI:894323)
chr2 110083869 110118138 2q13 2q13 602022 MALL, BENE mal, T-cell differentiation protein-like MALL 7851 ENSG00000144063 Mall (MGI:2385152)
chr2 110123335 110205061 2q13 2q13 607100 NPHP1, NPH1, SLSN1, JBTS4 Nephrocystin NPHP1 4867 ENSG00000144061 Joubert syndrome 4, 609583 (3), Autosomal recessive; Nephronophthisis 1, juvenile, 256100 (3), Autosomal recessive; Senior-Loken syndrome-1, 266900 (3), Autosomal recessive Nphp1 (MGI:1858233)
chr2 110513801 110610902 2q12.3-q13 2q13 612709 RGPD6, RGP6 RANBP2-like and GRIP domain-containing protein 6 RGPD6 729540 ENSG00000183054 Ranbp2 (MGI:894323)
chr2 110637697 110678106 2q14 2q13 602452 BUB1 Budding uninhibited by benzimidazoles 1, S. cerevisiae, homolog of (mitotic checkpoint gene BUB1) BUB1 699 ENSG00000169679 Colorectal cancer with chromosomal instability, somatic (3) Bub1 (MGI:1100510)
chr2 111120913 111168444 2q13 2q13 603827 BCL2L11, BIM BCL2-like 11 BCL2L11 10018 ENSG00000153094 Bcl2l11 (MGI:1197519)
chr2 111195865 111495160 2q13 2q13 617144 MIR4435-2HG, MORRBID MIR4435-2 host gene (long noncoding RNA MORRBID) MIR4435-2HG 541471
chr2 111766149 111884195 2q13 2q13 608473 ANAP1, APC1 Anaphase-promoting complex, subunit 1 ANAPC1 64682 ENSG00000153107 Anapc1 (MGI:103097)
chr2 111898478 112039945 2q14.1 2q13 604705 MERTK, RP38 Mer tyrosine kinase protooncogene MERTK 10461 ENSG00000153208 Retinitis pigmentosa 38, 613862 (3), Autosomal recessive Mertk (MGI:96965)
chr2 112055222 112119317 2q13 2q13 617203 TMEM87B Transmembrane protein 87B TMEM87B 84910 ENSG00000153214 Tmem87b (MGI:1919727)
chr2 112138384 112254557 2q13 2q13-q14 611551 FBLN7, TM14 Fibulin 7 FBLN7 129804 ENSG00000144152 Fbln7 (MGI:1917620)
chr2 112200000 118100000 2q14.1 612459 BMIQ13 Body mass index quantitative trait locus 13 100233157 associated with rs7566605 [Body mass index QTL13], 612459 (2)
chr2 112200000 147900000 2q14-q22 604288 CMD1H Cardiomyopathy, dilated, 1H CMD1H 23459 Cardiomyopathy, dilated, 1H, 604288 (2)
chr2 112200000 136100000 2q14-q21 165320 LCO Liver cancer oncogene ?Hepatocellular carcinoma (1)
chr2 112200000 136100000 2q14-q21 164755 VIS1, HIS1 Viral integration site 1 VIS1 7435
chr2 112368368 112433644 2q12.3-q13 2q14.1 602752 RGPD8, RGP8, RANBP2L1 RANBP2-like and GRIP domain-containing protein 8 RGPD8 727851 ENSG00000169629 Ranbp2 (MGI:894323)
chr2 112482126 112532645 2q13 2q14.1 608291 TTL Tubulin-tyrosine ligase TTL 150465 ENSG00000114999 Ttl (MGI:1916987)
chr2 112541914 112577152 2q14.1 2q14.1 602000 POLR1B Polymerase I, RNA, subunit B POLR1B 84172 ENSG00000125630 Polr1b (MGI:108014)
chr2 112584436 112589039 2q14.1 2q14.1 616978 CHCHD5, MIC14 Coiled coil-helix-coiled coil-helix domain-containing protein 5 CHCHD5 84269 ENSG00000125611 Chchd5 (MGI:1913420)
chr2 112645856 112663824 2q11-q14 2q14.1 137570 SLC20A1, GLVR1 Solute carrier family 20, phosphate transporter, member 1 (Gibbon ape leukemia virus receptor-1) SLC20A1 6574 ENSG00000144136 Slc20a1 (MGI:108392)
chr2 112736348 112764676 2q13 2q14.1 616174 CKAP2L, RADMIS Cytoskeleton-associated protein 2-like CKAP2L 150468 ENSG00000169607 Filippi syndrome, 272440 (3), Autosomal recessive Ckap2l (MGI:1917716)
chr2 112773914 112785397 2q14 2q14.1 147760 IL1A Interleukin-1, alpha IL1A 3552 ENSG00000115008 within 430kb of IL1B, IL1RN Il1a (MGI:96542)
chr2 112829757 112836842 2q14 2q14.1 147720 IL1B Interleukin-1, beta IL1B 3553 ENSG00000125538 within 430kb of IL1RN, IL1A {Gastric cancer risk after H. pylori infection}, 137215 (3), Autosomal dominant Il1b (MGI:96543)
chr2 112908884 112918881 2q12.1 2q14.1 605510 IL37, IL1F7, FIL1Z, IL1H4, IL1RP1 Interleukin 37 IL37 27178 ENSG00000125571
chr2 112978018 112985671 2q13 2q14.1 605542 IL36G, IL1F9, IL1H1, IL1RP2 Interleukin 36, gamma IL36G 56300 ENSG00000136688 Il1f9 (MGI:2449929)
chr2 113005460 113011070 2q13 2q14.1 605509 IL36A, IL1F6, FIL1E Interleukin 36, alpha IL36A 27179 ENSG00000136694 Il1f6 (MGI:1859324)
chr2 113022090 113052866 2q13 2q14.1 605508 IL36B, IL1F8, IL1H2, FIL1H Interleukin 36, beta IL36B 27177 ENSG00000136696 Il1f8 (MGI:1916927)
chr2 113058637 113064743 2q13 2q14.1 605507 IL36RN, IL1F5, FIL1D, IL1HY1, IL1RP3, PSORP, PSORS14 Interleukin 36 receptor antagonist IL36RN 26525 ENSG00000136695 Psoriasis 14, pustular, 614204 (3), Autosomal recessive Il1f5 (MGI:1859325)
chr2 113067969 113075849 2q14 2q14.1 615296 IL1F10, IL1HY2 Interleukin 1 family, member 10 IL1F10 84639 ENSG00000136697 Il1f10 (MGI:2652548)
chr2 113099364 113134015 2q14.2 2q14.1 147679 IL1RN, MVCD4, DIRA Interleukin-1 receptor antagonist IL1RN 3557 ENSG00000136689 {Gastric cancer risk after H. pylori infection}, 137215 (3), Autosomal dominant; Interleukin 1 receptor antagonist deficiency, 612852 (3), Autosomal recessive; {Microvascular complications of diabetes 4}, 612628 (3) Il1rn (MGI:96547)
chr2 113157398 113203228 2q13 2q14.1 614442 PSD4, EFA6B, TIC Pleckstrin and Sec7 domains-containing protein 4 PSD4 23550 ENSG00000125637 Psd4 (MGI:2674093)
chr2 113215996 113278920 2q12-q14 2q14.1 167415 PAX8 Paired box homeotic gene-8 PAX8 7849 ENSG00000125618 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3), Autosomal dominant Pax8 (MGI:97492)
chr2 113437690 113496203 2q13-q14.1 2q14.1 611079 CBWD2 Cobalamin synthetase W domain-containing protein 2 CBWD2 150472 ENSG00000215126
chr2 113499083 113501149 2q13-q14.1 2q14.1 611084 FOXD4L1 Forkhead box D4-like 1 FOXD4L1 200350 ENSG00000184492
chr2 113627217 113643397 2q13 2q14.1 605412 RABL2A RAB-like 2A RABL2A 11159 ENSG00000144134 Rabl2 (MGI:1915958)
chr2 113889933 113961553 2q14.1 2q14.1 604222 ACTR3, ARP3 Actin-related protein 3 ACTR3 10096 ENSG00000115091 Actr3 (MGI:1921367)
chr2 114442357 115845751 2q12.3-q14.2 2q14.1 608209 DPP10, DPRP3, KIAA1492 Dipeptidyl peptidase X DPP10 57628 ENSG00000175497 Dpp10 (MGI:2442409)
chr2 117814678 117832376 2q14.1 2q14.1 606355 DDX18 DEAD/H box 18 DDX18 8886 ENSG00000088205 Ddx18 (MGI:1914192)
chr2 118088417 118110030 2q14.1 2q14.1-q14.2 608660 INSIG2 Insulin-induced gene 2 INSIG2 51141 ENSG00000125629 Insig2 (MGI:1920249)
chr2 118842170 118848182 2q13-q21 2q14.2 131290 EN1 Engrailed-1 EN1 2019 ENSG00000163064 En1 (MGI:95389)
chr2 118942168 118994663 2q12-q13 2q14.2 604870 MARCO Macrophage receptor with collagenous structure MARCO 8685 ENSG00000019169 Marco (MGI:1309998)
chr2 119156242 119158894 2q14.2 2q14.2 614330 C1QL2, CTRP10, C1QTNF10 Complement component 1, q subcomponent-like 2 C1QL2 165257 ENSG00000144119 C1ql2 (MGI:3032521)
chr2 119222475 119265651 2q14.2 2q14.2 609671 STEAP3, TSAP6, AHMIO2 Six-transmembrane epithelial antigen of prostate 3 STEAP3 55240 ENSG00000115107 mutation identified in 1 AHMIO2 family ?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3), Autosomal dominant Steap3 (MGI:1915678)
chr2 119366923 119372550 2q12-q21 2q14.2 125950 DBI Diazepam-binding inhibitor DBI 1622 ENSG00000155368 ?on 6q21-qter Dbi (MGI:94865)
chr2 119439842 119524451 2q14.1 2q14.2 182098 SCTR Secretin receptor SCTR 6344 ENSG00000080293 Sctr (MGI:2441720)
chr2 119759630 119984898 2q14.2 2q14.2 176878 PTPN4, PTPMEG1 Protein-tyrosine phosphatase, nonreceptor-type, 4 PTPN4 5775 ENSG00000088179 Ptpn4 (MGI:1099792)
chr2 120013027 120179120 2q14 2q14.2 611730 EPB41L5, KIAA1548 Erythrocyte membrane protein band 4.1-like 5 EPB41L5 57669 ENSG00000115109 Epb41l5 (MGI:103006)
chr2 120252837 120294710 2cen-q13 2q14.2 179551 RALB RAS-like protein B RALB 5899 ENSG00000144118 Ralb (MGI:1927244)
chr2 120346141 120351807 2cen-q13 2q14.2 147390 INHBB Inhibin, beta-2 INHBB 3625 ENSG00000163083 Inhbb (MGI:96571)
chr2 120735864 120992652 2q14 2q14.2 165230 GLI2, HPE9, CJS GLI-Kruppel family member GLI2 (oncogene GLI2) GLI2 2736 ENSG00000074047 Culler-Jones syndrome, 615849 (3), Autosomal dominant; Holoprosencephaly 9, 610829 (3), Autosomal dominant Gli2 (MGI:95728)
chr2 121216586 121285209 2q14 2q14.2 609785 TFCP2L1, CRTR1, LBP9 Transcription factor CP2-like 1 TFCP2L1 29842 ENSG00000115112 Tfcp2l1 (MGI:2444691)
chr2 121337775 121649475 2q14 2q14.2-q14.3 605852 CLASP1, KIAA0622 CLIP-associated protein 1 CLASP1 23332 ENSG00000074054 Clasp1 (MGI:1923957)
chr2 121530879 121531008 2q14.2 2q14.2 601428 RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN RNA, U4, small nuclear, AT-AC form RNU4ATAC 100151683 Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3), Autosomal recessive; Roifman syndrome, 616651 (3), Autosomal recessive
chr2 121600000 136100000 2q14.3-q21.3 614588 DYT21 Dystonia 21 DYT21 100885773 Dystonia 21, 614588 (2), Autosomal dominant
chr2 121726944 121736926 2q14.3 2q14.3 611970 NIFK, MKI67IP, NOPP34 Nucleolar protein interacting with the FHA domain of MKI67 NIFK 84365 ENSG00000155438 Nifk (MGI:1915199)
chr2 121755544 121767852 2q21.1 2q14.3 600575 TSN Translin TSN 7247 ENSG00000211460 Tsn (MGI:109263)
chr2 124025286 124921200 2q14 2q14.3 610519 CNTNAP5, CASPR5 Contactin-associated protein-like 5 CNTNAP5 129684 ENSG00000155052 Cntnap5a (MGI:3643623)
chr2 126655934 126696674 2q14-q21 2q14.3 110750 GYPC, GE, GPC Glycophorin C GYPC 2995 ENSG00000136732 [Blood group, Gerbich], 616089 (3); {Malaria, resistance to}, 611162 (3) Gypc (MGI:1098566)
chr2 127048022 127107326 2q14 2q14.3 601248 BIN1, AMPHL, CNM2 Box-dependent MYC-interacting protein-1 (amphiphysin-like) BIN1 274 ENSG00000136717 Centronuclear myopathy 2, 255200 (3), Autosomal recessive Bin1 (MGI:108092)
chr2 127257289 127294175 2q21 2q14.3 133510 ERCC3, XPB, TTD2 Excision-repair cross-complementing rodent repair deficiency, complementation group 3 ERCC3 2071 ENSG00000163161 Trichothiodystrophy 2, photosensitive, 616390 (3), Autosomal recessive; Xeroderma pigmentosum, group B, 610651 (3), Autosomal recessive Ercc3 (MGI:95414)
chr2 127298668 127387532 2q14.3 2q14.3 609487 MAP3K2, MEKK2 Mitogen-activated protein kinase kinase kinase 2 MAP3K2 10746 ENSG00000169967 Map3k2 (MGI:1346873)
chr2 127418142 127429245 2q13-q14 2q14.3 612283 PROC, PC, THPH3, THPH4 Protein C (inactivator of coagulation factors Va and VIIIa) PROC 5624 ENSG00000115718 Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3), Autosomal dominant; Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3), Autosomal recessive Proc (MGI:97771)
chr2 127535688 127637727 2q21.1 2q14.3 606541 MYO7B Myosin VIIb MYO7B 4648 ENSG00000169994 Myo7b (MGI:107709)
chr2 127638420 127681785 2q14.3 2q14.3 607908 LIMS2, PINCH2, LGMD2W LIM and senescent cell antigen-like domains 2 LIMS2 55679 ENSG00000072163 mutation identified in 1 LGMD2W family Muscular dystrophy, limb-girdle, type 2W, 616827 (3), Autosomal recessive Lims2 (MGI:2385067)
chr2 127645863 127652638 2q21 2q14.3 603071 GPR17 G protein-coupled receptor-17 GPR17 2840 ENSG00000144230 Gpr17 (MGI:3584514)
chr2 127846265 127858154 2q14.3 2q14.3 606017 POLR2D Polymerase II, RNA, subunit D POLR2D 5433 ENSG00000144231 Polr2d (MGI:1916491)
chr2 127941216 128028119 2q14.3 2q14.3 609697 SAP130 Sin3A-associated protein, 130kD SAP130 79595 ENSG00000136715 Sap130 (MGI:1919782)
chr2 128091179 128195676 2q14.3 2q14.3 605897 UGGT1, HUGT1 UDP-glucose glycoprotein glucosyltransferase 1 UGGT1 56886 ENSG00000136731 Uggt1 (MGI:2443162)
chr2 128265479 128318596 2q21 2q14.3 604846 HS6ST1, HS6ST, HH15 Heparan sulfate 6-O-sulfotransferase 1 HS6ST1 9394 ENSG00000136720 {Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3), Autosomal dominant Hs6st1 (MGI:1354958)
chr2 129100000 131700000 2q21.1 612311 ADHD5 Attention deficit-hyperactivity disorder, susceptibility to, 5 100190790 max lod at rs985162 {Attention deficit-hyperactivity disorder, susceptibility to, 5}, 612311 (2)
chr2 129100000 147900000 2q21.1-q22 608316 CHDS2 Coronary heart disease, susceptibility to, 2 387584 {Coronary heart disease, susceptibility to, 2}, 608316 (2)
chr2 129100000 136100000 2q21 606240 NMTC3 Nonmedullary thyroid carcinoma 3 114568 {Thyroid carcinoma, nonmedullary, 3}, 606240 (2), Autosomal dominant
chr2 129979661 129982737 2q21.1 2q21.1 612909 RAB6C, WTH3 Ras-associated protein RAB6C RAB6C 84084 ENSG00000222014
chr2 130151391 130182749 2q21.1 2q21.1 610457 SMPD4, NSMASE3, KIAA1418 Sphingomyelin phosphodiesterase 4, neutral membrane SMPD4 55627 ENSG00000136699 Smpd4 (MGI:1924876)
chr2 130181921 130190728 2q21.1 2q21.1 613450 FAM128B, MOZART2B Family with sequence similarity 128, member B MZT2B 80097 ENSG00000152082
chr2 130337932 130342680 2q21.2 2q21.1 613734 CCDC115, CCP1, CDG2O Coiled-coil domain-containing protein 115 CCDC115 84317 ENSG00000136710 Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive Ccdc115 (MGI:1916918)
chr2 130342224 130347960 2q21.1 2q21.1 612981 IMP4, BXDC4 Imp4, S. cerevisiae, homolog of IMP4 92856 ENSG00000136718 Imp4 (MGI:106572)
chr2 130356006 130375408 2q21.1 2q21.1 606587 PTPN18, BDP1 Protein-tyrosine phosphatase, nonreceptor-type, 18 PTPN18 26469 ENSG00000072135 Ptpn18 (MGI:108410)
chr2 130592164 130599574 2q21.1 2q21.1 605194 CFC1, CRYPTIC, HTX2 Cryptic protein CFC1 55997 ENSG00000136698 Heterotaxy, visceral, 2, autosomal, 605376 (3), Autosomal dominant Cfc1 (MGI:109448)
chr2 130836915 131051513 2q22 2q21.1 605216 ARHGEF4, ASEF RHO guanine nucleotide exchange factor 4 ARHGEF4 50649 ENSG00000136002 Arhgef4 (MGI:2442507)
chr2 131209580 131265253 2q21.1 2q21.1 608914 POTEE, POTE2 POTE ankyrin domain family, member E POTEE 445582 ENSG00000188219 5 POTE2 genes within 2Mb segment
chr2 131469723 131493079 2q21.1 2q21.1 613449 FAM128A, MOZART2A Family with sequence similarity 128, member A MZT2A 653784 ENSG00000173272 Mzt2 (MGI:1922845)
chr2 131476006 131482933 2q21.1 2q21.1 617878 TUBA3D, KTCN9 Tubulin, alpha-3D TUBA3D 113457 ENSG00000075886 Keratoconus 9, 617928 (3)
chr2 131592041 131626428 2q21.1 2q21.1 611266 POTEKP, ACT, ACTBL3, POTEK, FKSG30 POTE ankyrin domain family, member K, pseudogene POTEKP 440915
chr2 132415971 132646595 2q21-q22 2q21.2 602886 GPR39 G protein-coupled receptor-39 GPR39 2863 ENSG00000183840 Gpr39 (MGI:1918361)
chr2 132643279 132671578 2q21.2 2q21.2 610450 LYPD1, PHTS LY6/PLAUR domain-containing protein 1 LYPD1 116372 ENSG00000150551 Lypd1 (MGI:1919835)
chr2 132671787 133675181 2q21.2 2q21.2 608789 NCKAP5, NAP5 NCK-associated protein 5 NCKAP5 344148 ENSG00000176771 Nckap5 (MGI:2686394)
chr2 134119921 134454620 2q21 2q21.2-q21.3 601774 MGAT5 Mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl- glucosaminyltransferase MGAT5 4249 ENSG00000152127 Mgat5 (MGI:894701)
chr2 134918809 134959344 2p14-q21.3 2q21.3 603862 CCNT2 Cyclin T2 CCNT2 905 ENSG00000082258 Ccnt2 (MGI:1920199)
chr2 135052264 135176666 2q21.3 2q21.3 602536 RAB3GAP1, WARBM1, P130 RAB3 GTPase-activating protein, catalytic subunit RAB3GAP1 22930 ENSG00000115839 Warburg micro syndrome 1, 600118 (3), Autosomal recessive Rab3gap1 (MGI:2445001)
chr2 135164217 135531235 2q21.3 2q21.3 615655 ZRANB3 Zinc finger RANBP2-type domain-containing protein 3 ZRANB3 84083 ENSG00000121988 Zranb3 (MGI:1918362)
chr2 135665396 135665477 2q21 2q21.3 611774 MIR128-1, MIRN128-1, MIR128A Micro RNA 128-1 MIR128-1 406915
chr2 135741618 135785062 2q21.3-q22.1 2q21.3 611216 UBXN4, UBXD2, KIAA2042, ERASIN UBX domain protein 4 UBXN4 23190 ENSG00000144224 Ubxn4 (MGI:1915062)
chr2 135787839 135837194 2q21 2q21.3 603202 LCT, LAC, LPH Lactase (lactase-phlorizin hydrolase) LCT 3938 ENSG00000115850 Lactase deficiency, congenital, 223000 (3), Autosomal recessive Lct (MGI:104576)
chr2 135839625 135876476 2q21 2q21.3 601806 MCM6 Minichromosome maintenance deficient (mis5, S. pombe) 6 MCM6 4175 ENSG00000076003 mutations in introns 9 and 13 Lactase persistence/nonpersistence, 223100 (3), Autosomal dominant Mcm6 (MGI:1298227)
chr2 135905880 135985683 2q21.3 2q21.3 603084 DARS, HBSL, HBSL Aspartyl tRNA synthetase DARS 1615 ENSG00000115866 Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3), Autosomal recessive Dars (MGI:2442544)
chr2 136100000 168900000 2q22-q24 611535 MAFD5 Major affective disorder 5 100188843 {Major affective disorder 5}, 611535 (2)
chr2 136114348 136118154 2q21 2q22.1 162643 CXCR4, D2S201E, NPY3R, WHIMS Chemokine (C-X-C motif) receptor 4 (neuropeptide Y receptor Y3) CXCR4 7852 ENSG00000121966 Myelokathexis, isolated (3); WHIM syndrome, 193670 (3), Autosomal dominant Cxcr4 (MGI:109563)
chr2 137964067 138016363 2q22 2q22.1 605238 HNMT, MRT51 Histamine N-methyltransferase HNMT 3176 ENSG00000150540 {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; Mental retardation, autosomal recessive 51, 616739 (3), Autosomal recessive Hnmt (MGI:2153181)
chr2 138669156 138780240 2q22.1 2q22.1 604635 NXPH2, NPH2 Neuroxophilin 2 NXPH2 11249 ENSG00000144227 Nxph2 (MGI:107491)
chr2 142877625 143042315 2q22.2 2q22.2 605197 KYNU, KYNUU, VCRL2 Kynureninase KYNU 8942 ENSG00000115919 mutation identified in 1 KYNUU family ?Hydroxykynureninuria, 236800 (3), Autosomal recessive; Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3), Autosomal recessive Kynu (MGI:1918039)
chr2 143070972 143768351 2q22.2-q22.3 2q22.2-q22.3 610578 ARHGAP15, BM046 Rho GTPase-activating protein 15 ARHGAP15 55843 ENSG00000075884 Arhgap15 (MGI:1923367)
chr2 143945044 144333068 2q22 2q22.3 610165 GTDC1 Glycosyltransferase-like domain containing 1 GTDC1 79712 ENSG00000121964 Gtdc1 (MGI:2444269)
chr2 144384374 144520390 2q22 2q22.3 605802 ZEB2, ZFHX1B, SMADIP1, SIP1 Zinc finger E box-binding homeobox 2 ZEB2 9839 ENSG00000169554 Mowat-Wilson syndrome, 235730 (3), Autosomal dominant Zeb2 (MGI:1344407)
chr2 147844516 147930826 2q22.2-q23.3 2q22.3-q23.1 102581 ACVR2A, ACVR2 Activin A receptor, type IIA ACVR2A 92 ENSG00000121989 Acvr2a (MGI:102806)
chr2 147900000 168900000 2q23-q24.3 603964 DFNA16 Deafness, autosomal dominant 16 DFNA16 1694 Deafness, autosomal dominant 16, 603964 (2), Autosomal dominant
chr2 147900000 182100000 2q23-q31 605818 DFNB27 Deafness, autosomal recessive 27 DFNB27 23713 Deafness, autosomal recessive 27, 605818 (2), Autosomal recessive
chr2 147930396 148021603 2q22-q23 2q23.1 603056 ORC4, ORC4L Origin recognition complex, subunit 4, S. cerevisiae, homolog of ORC4 5000 ENSG00000115947 Meier-Gorlin syndrome 2, 613800 (3), Autosomal recessive Orc4 (MGI:1347043)
chr2 148021010 148516922 2q23.1 2q23.1 611472 MBD5, KIAA1461, MRD1 Methyl-CpG-binding domain protein 5 MBD5 55777 ENSG00000204406 Mental retardation, autosomal dominant 1, 156200 (3), Autosomal dominant Mbd5 (MGI:2138934)
chr2 148644779 148788490 2q23.1 2q23.1 611000 EPC2 Enhancer of polycomb, Drosophila, homolog of, 2 EPC2 26122 ENSG00000135999 Epc2 (MGI:1278321)
chr2 148875222 149026758 2q23.1 2q23.1-q23.2 604593 KIF5C, NKHC2, CDCBM2 Kinesin family member 5C KIF5C 3800 ENSG00000168280 Cortical dysplasia, complex, with other brain malformations 2, 615282 (3), Autosomal dominant Kif5c (MGI:1098269)
chr2 149329984 149474147 2q23.1-q23.2 2q23.2 613359 LYPD6 LY6/PLAUR domain-containing protein 6 LYPD6 130574 ENSG00000187123 Lypd6 (MGI:2443848)
chr2 149569632 149587815 2q23.2 2q23.2 611935 C2orf25, MMADHC Chromosome 2 open reading frame 25 MMADHC 27249 ENSG00000168288 Homocystinuria, cblD type, variant 1, 277410 (3), Autosomal recessive; Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3), Autosomal recessive; Methylmalonic aciduria, cblD type, variant 2, 277410 (3), Autosomal recessive Mmadhc (MGI:1923786)
chr2 150468192 150487694 2q23.3 2q23.3 602924 RND3, RHOE, ARHE RHO family GTPase 3 RND3 390 ENSG00000115963 Rnd3 (MGI:1921444)
chr2 151270464 151289915 2q23.3 2q23.3 603525 NMI NMYC interactor NMI 9111 ENSG00000123609 previously assigned to 22q13.3 Nmi (MGI:1928368)
chr2 151357591 151380047 2q23.3 2q23.3 600410 TNFAIP6 Tumor necrosis factor, alpha-induced protein-6 TNFAIP6 7130 ENSG00000123610 Tnfaip6 (MGI:1195266)
chr2 151485333 151734486 2q22 2q23.3 161650 NEB, NEM2 Nebulin NEB 4703 ENSG00000183091 Nemaline myopathy 2, autosomal recessive, 256030 (3), Autosomal recessive Neb (MGI:97292)
chr2 151800965 151828494 2q23-q24.1 2q23.3 608960 ARL5 ADP-ribosylation factor-like 5 ARL5A 26225 ENSG00000162980 Arl5a (MGI:1922673)
chr2 151832770 152099166 2q22-q23 2q23.3 601949 CACNB4, EJM6, EA5, EIG9 Calcium channel, voltage-dependent, beta 4 subunit CACNB4 785 ENSG00000182389 {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3), Autosomal dominant; Episodic ataxia, type 5, 613855 (3), Autosomal dominant Cacnb4 (MGI:103301)
chr2 152116800 152175991 2q23.3 2q23.3 606244 STAM2 Signal-transducing adaptor molecule 2 STAM2 10254 ENSG00000115145 Stam2 (MGI:1929100)
chr2 152335169 152649833 2q23.3 2q23.3 616285 FMNL2, KIAA1902 Formin-like 2 FMNL2 114793 ENSG00000157827 Fmnl2 (MGI:1918659)
chr2 152651592 152718011 2q23.3 2q23.3 612941 PRPF40A, HYPA, FNBP3, FBP11 Precursor mRNA-processing factor 40, S. cerevisiae, homolog of, A PRPF40A 55660 ENSG00000196504 Prpf40a (MGI:1860512)
chr2 152717692 152761252 2q23.3 2q23.3 616495 ARL6IP6, AIP6 ADP-ribosylation factor-like 6-interacting protein 6 ARL6IP6 151188 ENSG00000177917 Arl6ip6 (MGI:1929507)
chr2 153477337 153478807 2q23 2q23.3 612171 RPRM Reprimo RPRM 56475 ENSG00000177519 Rprm (MGI:1915124)
chr2 153871897 154454176 2q24.1 2q23.3-q24.1 608369 GALNT13, KIAA1918 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 GALNT13 114805 ENSG00000144278 Galnt13 (MGI:2139447)
chr2 154000000 196600000 2q24-q32 612108 FGQTL1 Fasting plasma glucose level QTL 1 100499165 associated with rs560887 [Fasting plasma glucose level QTL 1], 612108 (2)
chr2 154000000 177100000 2q24.1-q31.1 610295 INTLQ2 Intelligence quantitative trait locus 3 100462723 {Intelligence QTL3}, 610295 (2)
chr2 154000000 196600000 2q24-q32 156232 MMDK, MDK Mesomelic dysplasia, Kantaputra type 10305 Mesomelic dysplasia, Kantaputra type, 156232 (2), Autosomal dominant
chr2 154000000 158900000 2q24.1 612759 SYNSTH Synesthesia 100301527 max lod at D2S142 Synesthesia, 612759 (2)
chr2 154698580 154858351 2q24.1 2q24.1 601534 KCNJ3, GIRK1 Potassium inwardly-rectifying channel, subfamily J, member 3 KCNJ3 3760 ENSG00000162989 Kcnj3 (MGI:104742)
chr2 156324431 156332774 2q22-q23 2q24.1 601828 NR4A2, NURR1, NOT, TINUR Nuclear receptor subfamily 4, group A, member 2 NR4A2 4929 ENSG00000153234 Nr4a2 (MGI:1352456)
chr2 156435289 156586402 2q24.1 2q24.1 138430 GPD2 Glycerol-3-phosphate dehydrogenase 2 (mitochondrial) GPD2 2820 ENSG00000115159 pseudogene on 19 {Diabetes, type 2, susceptibility to}, 125853 (3), Autosomal dominant Gpd2 (MGI:99778)
chr2 157257597 157318490 2q24.2 2q24.1 615129 GALNT5, GALNACT5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 GALNT5 11227 ENSG00000136542 Galnt5 (MGI:2179403)
chr2 157318612 157327712 2q24.1 2q24.1 610072 ERMN, JN, KIAA1189 Ermin ERMN 57471 ENSG00000136541 Ermn (MGI:1925017)
chr2 157412781 157444091 2q11.2 2q24.1 604448 CYTIP, PSCDBP, HE Cytohesin 1 interacting protein CYTIP 9595 ENSG00000115165 Cytip (MGI:2183535)
chr2 157526766 157628886 2q24.1 2q24.1 608981 ACVR1C, ALK7 Activin A receptor, type IC ACVR1C 130399 ENSG00000123612 Acvr1c (MGI:2661081)
chr2 157736445 157875895 2q23-q24 2q24.1 102576 ACVR1, ACVRLK2, ALK2, FOP Activin A receptor, type I ACVR1 90 ENSG00000115170 Fibrodysplasia ossificans progressiva, 135100 (3), Autosomal dominant Acvr1 (MGI:87911)
chr2 157995178 158136153 2q24.1 2q24.1 617340 UPP2 Uridine phosphorylase 2 UPP2 151531 ENSG00000007001 Upp2 (MGI:1923904)
chr2 158456879 158681428 2q23-q31 2q24.1 604276 PKP4 Plakophilin-4 PKP4 8502 ENSG00000144283 Pkp4 (MGI:109281)
chr2 158968599 159232658 2q24.2 2q24.2 611397 TANC1, KIAA1728 Tetratricopeptide repeat-, ankyrin repeat-, and coiled-coil-containing protein 1 TANC1 85461 ENSG00000115183 Tanc1 (MGI:1914110)
chr2 159315311 159712438 2q23-q24 2q24.2 605683 BAZ2B Bromodomain adjacent to zinc finger domain, 2B BAZ2B 29994 ENSG00000123636 Baz2b (MGI:2442782)
chr2 159712456 159768582 2q24.2 2q24.2 613334 MARCH7 Membrane-associated RING-CH finger protein 7 MARCH7 64844 ENSG00000136536 March7 (MGI:1931053)
chr2 159768627 159798254 2q24 2q24.2 612246 CD302, DCL1, KIAA0022 CD302 antigen CD302 9936 ENSG00000241399 Cd302 (MGI:1913455)
chr2 159932001 160062614 2q23-q24 2q24.2 604939 PLA2R1, PLA2R Phospholipase A2 receptor 1 PLA2R1 22925 ENSG00000153246 Pla2r1 (MGI:102468)
chr2 160099665 160200312 2q24.2 2q24.2 147558 ITGB6, AI1H Integrin, beta-6 ITGB6 3694 ENSG00000115221 Amelogenesis imperfecta, type IH, 616221 (3), Autosomal recessive Itgb6 (MGI:96615)
chr2 160272150 160493982 2q24.2 2q24.2 602310 RBMS1, MSSP, SCR2 RNA-binding motif protein, single strand-interacting, 1 RBMS1 5937 ENSG00000153250 Rbms1 (MGI:1861774)
chr2 161136954 161236175 2q24.2 2q24.2 603893 TANK, ITRAF TRAF family member-associated NF-Kappa-B activator TANK 10010 ENSG00000136560 Tank (MGI:107676)
chr2 161308274 161411716 2q24.2 2q24.2 607173 PSMD14, POH1, PAD1 Proteasome 26S subunit, non-ATPase, 14 PSMD14 10213 ENSG00000115233 Psmd14 (MGI:1913284)
chr2 161416093 161425866 2q23-q37 2q24.2 604616 TBR1 T-box, brain, 1 TBR1 10716 ENSG00000136535 Tbr1 (MGI:107404)
chr2 161620962 161985275 2q23-q24 2q24.2 605556 SLC4A10 Solute carrier family 4 (sodium bicarbonate cotransporter-like), member 10 SLC4A10 57282 ENSG00000144290 Slc4a10 (MGI:2150150)
chr2 161992240 162074541 2q23 2q24.2 102720 DPP4, CD26, ADCP2 Dipeptidylpeptidase IV (CD26; adenosine deaminase complexing protein-2) DPP4 1803 ENSG00000197635 Dpp4 (MGI:94919)
chr2 162142868 162152403 2q36-q37 2q24.2 138030 GCG Glucagon GCG 2641 ENSG00000115263 [?Hyperproglucagonemia] (1)
chr2 162170683 162243556 2q23 2q24.2 600403 FAP, FAPA Fibroblast activation protein, alpha subunit FAP 2191 ENSG00000078098 Fap (MGI:109608)
chr2 162267078 162318707 2q24 2q24.2 606951 IFIH1, MDA5, AGS7, SGMRT1 Interferon induced with helicase C domain 1 IFIH1 64135 ENSG00000115267 Aicardi-Goutieres syndrome 7, 615846 (3), Autosomal dominant; Singleton-Merten syndrome 1, 182250 (3), Autosomal dominant Ifih1 (MGI:1918836)
chr2 162318762 162377224 2q24.2 2q24.2 607030 GCA Grancalcin GCA 25801 ENSG00000115271 Gca (MGI:1918521)
chr2 162371406 162838816 2q24.2 2q24.2 608169 KCNH7, ERG3, HERG3, Kv11.3 Potassium channel, voltage-gated, subfamily H, member 7 KCNH7 90134 ENSG00000184611 Kcnh7 (MGI:2159566)
chr2 162900000 168900000 2q24.3 610155 IDDM19 Diabetes mellitus, insulin-dependent, 19 associated with rs1990760 {Diabetes mellitus, insulin-dependent, 19}, 610155 (2)
chr2 163602610 163736154 4q22.1 2q24.3 605295 FIGN Fidgetin FIGN 55137 ENSG00000182263 Fign (MGI:1890647)
chr2 164492405 164622958 2q22-q24 2q24.3 601524 GRB14 Growth factor receptor-bound protein 14 GRB14 2888 ENSG00000115290 Grb14 (MGI:1355324)
chr2 164680184 164842167 2q24 2q24.3 610318 COBLL1, COBLR1, KIAA0977 COBL-like protein 1 COBLL1 22837 ENSG00000082438 Cobll1 (MGI:2442894)
chr2 164898198 164955720 2q24.3 2q24.3 616526 SLC38A11 Solute carrier family 38 (amino acid transporter), member 11 SLC38A11 151258 ENSG00000169507 Slc38a11 (MGI:2443383)
chr2 165087519 165204294 2q24 2q24.3 182391 SCN3A Sodium channel, voltage-gated, type III, alpha polypeptide SCN3A 6328 ENSG00000153253 Scn3a (MGI:98249)
chr2 165208055 165392309 2q23-q24.3 2q24.3 182390 SCN2A, SCN2A1, BFIC3, EIEE11, BFIS3, BFNIS Sodium channel, voltage-gated, type II, alpha subunit SCN2A 6326 ENSG00000136531 4 related genes on chr.2 Epileptic encephalopathy, early infantile, 11, 613721 (3), Autosomal dominant; Seizures, benign familial infantile, 3, 607745 (3), Autosomal dominant Scn2a (MGI:98248)
chr2 165747802 165796351 2q24-q31 2q24.3 601756 GALNT3, HHS, HFTC UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 GALNT3 2591 ENSG00000115339 Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3), Autosomal recessive Galnt3 (MGI:894695)
chr2 165873361 165953837 2q24.3 2q24.3 612014 TTC21B, THM1, NPHP12, SRTD4, ATD4 Tetratricopeptide repeat domain 21B TTC21B 79809 ENSG00000123607 Nephronophthisis 12, 613820 (3), Autosomal recessive, Autosomal dominant; Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3), Autosomal recessive Ttc21b (MGI:1920918)
chr2 165989159 166149215 2q24 2q24.3 182389 SCN1A, GEFSP2, SMEI, FEB3A, EIEE6, FHM3 Sodium channel, voltage-gated, type I, alpha polypeptide SCN1A 6323 ENSG00000144285 Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3), Autosomal dominant; Febrile seizures, familial, 3A, 604403 (3), Autosomal dominant; Migraine, familial hemiplegic, 3, 609634 (3), Autosomal dominant Scn1a (MGI:98246)
chr2 166195184 166375986 2q24 2q24.3 603415 SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP, HSAN2D Sodium channel, voltage-gated, type IX, alpha subunit SCN9A 6335 ENSG00000169432 {Dravet syndrome, modifier of}, 607208 (3), Autosomal dominant; Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3), Autosomal dominant; Erythermalgia, primary, 133020 (3), Autosomal dominant; Febrile seizures, familial, 3B, 613863 (3), Autosomal dominant; HSAN2D, autosomal recessive, 243000 (3), Autosomal recessive; Insensitivity to pain, congenital, 243000 (3), Autosomal recessive; Paroxysmal extreme pain disorder,, 167400 (3), Autosomal dominant; Small fiber neuropathy, 133020 (3), Autosomal dominant Scn9a (MGI:107636)
chr2 166403572 166494263 2q21-q23 2q24.3 182392 SCN7A, SCN6A Sodium channel, voltage-gated, type VII, alpha polypeptide SCN7A 6332 ENSG00000136546 Scn7a (MGI:102965)
chr2 166888486 167259752 2q24.3 2q24.3 609778 CMYA3, XIRP2 Cardiomyopathy-associated protein 3 XIRP2 129446 ENSG00000163092 Xirp2 (MGI:2685198)
chr2 167293059 167870855 2q24.3 2q24.3 603093 B3GALT1 UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase, polypeptide 1 B3GALT1 8708 ENSG00000172318 B3galt1 (MGI:1349403)
chr2 167954019 168247594 2q24.3 2q24.3 607648 STK39, SPAK Serine/threonine protein kinase 39 STK39 27347 ENSG00000198648 Stk39 (MGI:1858416)
chr2 168455861 168775133 2q24.3 2q24.3 615336 CERS6, LASS6 Ceramide synthase 6 CERS6 253782 ENSG00000172292 Cers6 (MGI:2442564)
chr2 168786538 168865338 2q31.1 2q24.3 607496 NOSTRIN Nitric oxide synthase trafficker NOSTRIN 115677 ENSG00000163072 Nostrin (MGI:3606242)
chr2 168865044 168890442 2q31.1 2q24.3 609395 SPC25, SPBC25 SPC25, NDC80 kinetochore complex component SPC25 57405 ENSG00000152253 Spc25 (MGI:1913692)
chr2 168900000 177100000 2q31.1 613681 DUP2q31.1, C2DUPq31.1 Chromosome 2q31.1 duplication syndrome duplication of 9 HOXD genes and MTX2 Chromosome 2q31.1 duplication syndrome, 613681 (4), Autosomal dominant
chr2 168900000 182100000 2q31 600321 IDDM7 Insulin-dependent diabetes mellitus-7 IDDM7 3406 {Diabetes mellitus, insulin-dependent, 7}, 600321 (2)
chr2 168900000 182100000 2q31 611147 PNKD2 Paroxysmal nonkinesigenic dyskinesia 2 100188328 between D2S2188 and D2S364 Paroxysmal nonkinesigenic dyskinesia 2, 611147 (2), Autosomal dominant
chr2 168900000 182100000 2q31 606708 SHFM5 Split-hand/foot malformation 5 SHFM5 171157 between EVX2 and D2S294 Split-hand/foot malformation 5, 606708 (2)
chr2 168901222 168909999 2q24-q32 2q31.1 608058 G6PC2, IGRP Glucose-6-phosphatase, catalytic, 2 G6PC2 57818 ENSG00000152254 G6pc2 (MGI:1277193)
chr2 168915467 169031395 2q24 2q31.1 603201 ABCB11, BSEP, SPGP, PFIC2, BRIC2 ATP-binding cassette, subfamily B, member 11 (bile salt export pump) ABCB11 8647 ENSG00000073734 Cholestasis, benign recurrent intrahepatic, 2, 605479 (3), Autosomal recessive; Cholestasis, progressive familial intrahepatic 2, 601847 (3), Autosomal recessive Abcb11 (MGI:1351619)
chr2 169067034 169096166 2q31.1 2q31.1 612131 DHRS9, RDHTBE Short-chain dehydrogenase/reductase family, member 9 DHRS9 10170 ENSG00000073737 Dhrs9 (MGI:2442798)
chr2 169127108 169362611 2q24-q31 2q31.1 600073 LRP2, DBS Low density lipoprotein-related protein 2 LRP2 4036 ENSG00000081479 Donnai-Barrow syndrome, 222448 (3), Autosomal recessive Lrp2 (MGI:95794)
chr2 169479495 169506654 2q31 2q31.1 603650 BBS5 BBS gene 5 BBS5 129880 ENSG00000163093 Bardet-Biedl syndrome 5, 615983 (3), Autosomal recessive Bbs5 (MGI:1919819)
chr2 169509701 169526261 2q31.1 2q31.1 607701 KLHL41, KBTBD10, SARCOSIN, NEM9 Kelch-like family member 41 KLHL41 10324 ENSG00000239474 Nemaline myopathy 9, 615731 (3), Autosomal recessive Klhl41 (MGI:2683854)
chr2 169527879 169573920 2q31.3 2q31.1 617529 FASTKD1, KIAA1800 Fast kinase domains 1 FASTKD1 79675 ENSG00000138399 Fastkd1 (MGI:2444596)
chr2 169584339 169641405 2q31.1 2q31.1 606093 PPIG Peptidyl-prolyl isomerase G (cyclophilin G) PPIG 9360 ENSG00000138398 Ppig (MGI:2445173)
chr2 169798811 169812063 2q31.1 2q31.1 109090 SSB, LARP3 Sjogren syndrome antigen B SSB 6741 ENSG00000138385 Ssb (MGI:98423)
chr2 169827461 170084130 2q31.1 2q31.1 613831 UBR3 Ubiquitin protein ligase E3 component N-recognin 3 UBR3 130507 ENSG00000144357 Ubr3 (MGI:1861100)
chr2 170178144 170655163 2q31.1-q31.2 2q31.1 610040 MYO3B Myosin IIIB MYO3B 140469 ENSG00000071909 Myo3b (MGI:2448580)
chr2 170714724 170717987 2q31.1 2q31.1 609391 SP5 Transcription factor Sp5 SP5 389058 ENSG00000204335 Sp5 (MGI:1927715)
chr2 170813209 170861150 2q31 2q31.1 605363 GAD1, SCP, CPSQ1 Glutamate decarboxylase-1, brain, 67kD GAD1 2571 ENSG00000128683 mutation identified in 1 CPSQ1 family ?Cerebral palsy, spastic quadriplegic, 1, 603513 (3), Autosomal recessive Gad1 (MGI:95632)
chr2 171434165 171491028 2q22.3-q35 2q31.1 612515 DCAF17, C20orf37 DDB1- and CUL4-associated factor 17 DCAF17 80067 ENSG00000115827 Woodhouse-Sakati syndrome, 241080 (3), Autosomal recessive Dcaf17 (MGI:1923013)
chr2 171687408 171750157 2q31.1 2q31.1 603331 DYNC1I2, DNCI2, IC2 Dynein, cytoplasmic-1, intermediate chain-2 DYNC1I2 1781 ENSG00000077380
chr2 171783404 171894305 2q24 2q31.1 603667 SLC25A12, ARALAR, EIEE39 Solute carrier family 25 (mitochondrial carrier, Aralar), member 12 SLC25A12 8604 ENSG00000115840 Epileptic encephalopathy, early infantile, 39, 612949 (3), Autosomal recessive Slc25a12 (MGI:1926080)
chr2 171922424 171983685 2q31.2-q33.1 2q31.1 603053 HAT1 Histone acetyltransferase-1 HAT1 8520 ENSG00000128708 Hat1 (MGI:96013)
chr2 171999896 172082429 2q31.1 2q31.1 610267 METAP1D, MAP1D Methionyl aminopeptidase type 1D (mitochondrial) METAP1D 254042 ENSG00000172878 Metap1d (MGI:1913809)
chr2 172085479 172089673 2q32 2q31.1 600029 DLX1 Distal-less homeo box-1 DLX1 1745 ENSG00000144355 Dlx1 (MGI:94901)
chr2 172099437 172102749 2q32 2q31.1 126255 DLX2, TES1 Distal-less homeo box-2 DLX2 1746 ENSG00000115844 Dlx2 (MGI:94902)
chr2 172427353 172506454 2q31.1 2q31.1 147556 ITGA6 Integrin, alpha-6 ITGA6 3655 ENSG00000091409 Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3), Autosomal recessive Itga6 (MGI:96605)
chr2 172555372 172672697 2q31.1 2q31.1 602524 PDK1 Pyruvate dehydrogenase kinase, isoenzyme 1 PDK1 5163 ENSG00000152256 Pdk1 (MGI:1926119)
chr2 173075434 173268008 2q31.1 2q31.1 609479 ZAK, MLTK, MRK, SFMMP, CNM6 Leucine zipper- and sterile alpha motif-containing kinase MAP3K20 51776 ENSG00000091436 Centronuclear myopathy 6 with fiber-type disproportion, 617760 (3), Autosomal recessive; Split-foot malformation with mesoaxial polydactyly, 616890 (3), Autosomal recessive Map3k20 (MGI:2443258)
chr2 173354832 173368989 2q31 2q31.1 609937 CDCA7, JPO1, ICF3 Cell division cycle-associated 7 CDCA7 83879 ENSG00000144354 Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910 (3) Cdca7 (MGI:1914203)
chr2 173906458 173965701 2q31 2q31.1 601804 SP3 Sp3 transcription factor SP3 6670 ENSG00000172845 Sp3 (MGI:1277166)
chr2 174072446 174248669 2q31.1 2q31.1 611175 OLA1, GTBP9 OBG-like ATPase 1 OLA1 29789 ENSG00000138430 Ola1 (MGI:1914309)
chr2 174348149 174395714 2q31.1 2q31.1 605228 CIR1 CBF1-interacting corepressor CIR1 9541 ENSG00000138433 Cir1 (MGI:1914185)
chr2 174395728 174430073 2q31.1 2q31.1 614967 SCRN3, SES3 Secernin 3 SCRN3 79634 ENSG00000144306 Scrn3 (MGI:1921866)
chr2 174559573 174682898 2q31.1 2q31.1 602357 WIPF1, WASPIP, WIP, WAS2 WAS/WASL-interacting protein family, member 1 WIPF1 7456 ENSG00000115935 mutation identified in 1 WAS2 patient ?Wiskott-Aldrich syndrome 2, 614493 (3) Wipf1 (MGI:2178801)
chr2 174747591 174764471 2q24-q32 2q31.1 100690 CHRNA1, ACHRD, CMS1B, CMS1A Cholinergic receptor, nicotinic, alpha polypeptide-1, muscle CHRNA1 1134 ENSG00000138435 Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3), Autosomal dominant; Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3), Autosomal recessive, Autosomal dominant Chrna1 (MGI:87885)
chr2 174799313 175005378 2q31-q32.1 2q31.1 118423 CHN1, CHN, ARHGAP2, RHOGAP2, DURS2 Chimerin 1 (GTPase-activating protein, rho, 2) CHN1 1123 ENSG00000128656 Duane retraction syndrome 2, 604356 (3) Chn1 (MGI:1915674)
chr2 175072249 175168205 2q32 2q31.1 123811 ATF2, CREB2 Activating transcription factor 2 ATF2 1386 ENSG00000115966 Atf2 (MGI:109349)
chr2 175176257 175181761 2q31.1 2q31.1 602736 ATP5G3 ATP synthase, mitochondrial, C subunit-3 ATP5MC3 518 ENSG00000154518 Atp5g3 (MGI:2442035)
chr2 175923861 176002900 2q31 2q31.1 610236 LNP, KIAA1715 Lunapark LNPK 80856 ENSG00000144320 Lnpk (MGI:1918115)
chr2 176080106 176083961 2q31-q32 2q31.1 142991 EVX2 Even-skipped homeo box-2 EVX2 344191 ENSG00000174279 13kb 5' to HOX4I Evx2 (MGI:95462)
chr2 176087486 176095937 2q31-q32 2q31.1 142989 HOXD13, HOX4I, SPD1, BDSD Homeo box-D13 HOXD13 3239 ENSG00000128714 mutation identified in 1 BDSD family Brachydactyly, type D, 113200 (3), Autosomal dominant; Brachydactyly, type E, 113300 (3), Autosomal dominant; ?Brachydactyly-syndactyly syndrome, 610713 (3); Syndactyly, type V, 186300 (3), Autosomal dominant; Synpolydactyly 1, 186000 (3), Autosomal dominant Hoxd13 (MGI:96205)
chr2 176099801 176100759 2q31-q32 2q31.1 142988 HOXD12, HOX4H Homeo box-D12 HOXD12 3238 ENSG00000170178 upstream from HOX4A-G Hoxd12 (MGI:96204)
chr2 176107355 176109587 2q31-q32 2q31.1 142986 HOXD11, HOX4F Homeo box-D11 HOXD11 3237 ENSG00000128713 Hoxd11 (MGI:96203)
chr2 176116763 176119941 2q31-q32 2q31.1 142984 HOXD10, HOX4D Homeo box-D10 HOXD10 3236 ENSG00000128710 Charcot-Marie-Tooth disease, foot deformity of, 192950 (3), Autosomal dominant; Vertical talus, congenital, 192950 (3), Autosomal dominant Hoxd10 (MGI:96202)
chr2 176122684 176124916 2q31-q32 2q31.1 142982 HOXD9, HOX4C Homeo box-D9 HOXD9 3235 ENSG00000128709 Hoxd9 (MGI:96210)
chr2 176129693 176132694 2q31-q32 2q31.1 142985 HOXD8, HOX4E Homeo box-D8 HOXD8 3234 ENSG00000175879 Hoxd8 (MGI:96209)
chr2 176150302 176150411 2q31 2q31.1 611576 MIR10B, MIRN10B Micro RNA 10B MIR10B 406903
chr2 176150393 176156077 2q31-q32 2q31.1 142981 HOXD4, HOX4B Homeo box-D4 HOXD4 3233 ENSG00000278500 Hoxd4 (MGI:96208)
chr2 176157162 176173101 2q31-q32 2q31.1 142980 HOXD3, HOX4A Homeo box-D3 HOXD3 3232 ENSG00000128652 Hoxd3 (MGI:96207)
chr2 176188578 176190906 2q31-q32 2q31.1 142987 HOXD1, HOX4G Homeo box-D1 HOXD1 3231 ENSG00000128645 Hoxd1 (MGI:96201)
chr2 176269394 176338024 2q31.1 2q31.1 608555 MTX2 Metaxin 2 MTX2 10651 ENSG00000128654 Mtx2 (MGI:1859652)
chr2 177100000 179700000 2q31.2 612345 DEL2q31 Chromosome 2q31.2 deletion syndrome contiguous gene deletion syndrome Chromosome 2q31.2 deletion syndrome, 612345 (4)
chr2 177212693 177223958 2q31.2 2q31.2 605372 HNRPA3, D10S102, FBRNP Heterogeneous nuclear ribonucleoprotein A3 HNRNPA3 220988 ENSG00000170144
chr2 177230302 177265130 2q31 2q31.2 600492 NFE2L2, NRF2, IMDDHH Nuclear factor, erythroid-derived 2-like 2 NFE2L2 4780 ENSG00000116044 Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 (3), Autosomal dominant Nfe2l2 (MGI:108420)
chr2 177392742 177543835 2q31 2q31.2 603051 AGPS, ADHAPS, RCDP3 Alkylglycerone-phosphate synthase AGPS 8540 ENSG00000018510 Rhizomelic chondrodysplasia punctata, type 3, 600121 (3), Autosomal recessive Agps (MGI:2443065)
chr2 177623248 178108338 2q31.2 2q31.2 604961 PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2 Phosphodiesterase 11A PDE11A 50940 ENSG00000128655 Pigmented nodular adrenocortical disease, primary, 2, 610475 (3), Autosomal dominant Pde11a (MGI:3036251)
chr2 178112408 178129655 2q31.2 2q31.2 608888 RBM45 RNA binding motif protein 45 RBM45 129831 ENSG00000155636 Rbm45 (MGI:2387367)
chr2 178194464 178399432 2q32.1 2q31.2 606734 OSBPL6, ORP6 Oxysterol-binding protein-like protein 6 OSBPL6 114880 ENSG00000079156 Osbpl6 (MGI:2139014)
chr2 178431413 178451239 2q31.3 2q31.2 603424 PRKRA, PACT, RAX, DYT16 Protein kinase, interferon-inducible double-stranded RNA-dependent activator PRKRA 8575 ENSG00000180228 Dystonia 16, 612067 (3), Autosomal recessive Prkra (MGI:1344375)
chr2 178450591 178467548 2q31.1-q31.3 2q31.2 610219 PJVK, DFNB59 Pejvakin PJVK 494513 ENSG00000204311 Deafness, autosomal recessive 59, 610220 (3), Autosomal recessive Pjvk (MGI:2685847)
chr2 178463663 178480816 2q31.2 2q31.2 607062 FKBP7, FKBP23 FK506-binding protein 7 FKBP7 51661 ENSG00000079150 Fkbp7 (MGI:1336879)
chr2 178480453 178516323 2q31.2 2q31.2 607774 PLEKHA3, FAPP1 Pleckstrin homology domain-containing protein, family A, member 3 PLEKHA3 65977 ENSG00000116095 Plekha3 (MGI:1932515)
chr2 178525988 178807422 2q31 2q31.2 188840 TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, SALMY Titin TTN 7273 ENSG00000155657 Cardiomyopathy, dilated, 1G, 604145 (3); Cardiomyopathy, familial hypertrophic, 9, 613765 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, type 2J, 608807 (3), Autosomal recessive; Myopathy, proximal, with early respiratory muscle involvement, 603689 (3); Salih myopathy, 611705 (3), Autosomal recessive; Tibial muscular dystrophy, tardive, 600334 (3), Autosomal dominant Ttn (MGI:98864)
chr2 178825307 179050130 2q31 2q31.2 616031 CCDC141, CAMDI Coiled-coil domain-containing protein 141 CCDC141 285025 ENSG00000163492 Ccdc141 (MGI:1919735)
chr2 179441981 179864549 2q31.2-q31.3 2q31.2-q31.3 612344 ZNF385B, ZFN533 Zinc finger protein 385B ZNF385B 151126 ENSG00000144331 Zfp385b (MGI:2444734)
chr2 179700000 188500000 2q31.3-q32.1 187370 DA10 Arthrogryposis, distal, type 10 max lod at D2S364 Arthrogryposis, distal, type 10, 187370 (2), Autosomal dominant
chr2 179860835 179860907 2q31.3 2q31.3 614488 MIR1258 Micro RNA 1258 MIR1258 100302172 on opposite strand from ZNF385B
chr2 179944875 180007295 2q31.3 2q31.3 615186 CWC2, KIAA1604, NCM CWC22 spliceosome-associated protein, X. cerevisiae, homolog of CWC22 57703 ENSG00000163510 Cwc22 (MGI:2136773)
chr2 180692103 180916938 2q31.3 2q31.3 615568 SCHLAP1, PCAT114, LINC00913 SWI/SNF complex antagonist associated with prostate cancer 1, noncoding SCHLAP1 101669767
chr2 180980384 181063426 2q32.1 2q31.3 604151 UBE2E3, UBCH9 Ubiquitin-conjugating enzyme E2E 3 UBE2E3 10477 ENSG00000170035 Ube2e3 (MGI:107412)
chr2 181456891 181538927 2q31-q32 2q31.3 192975 ITGA4, CD49D Integrin, alpha-4 (antigen CD49D, alpha-4 subunit of VLA-4 receptor) ITGA4 3676 ENSG00000115232 Itga4 (MGI:96603)
chr2 181536671 181657106 2q31.3 2q31.3 608381 CERKL, RP26 Ceramide kinase-like CERKL 375298 ENSG00000188452 Retinitis pigmentosa 26, 608380 (3) Cerkl (MGI:3037816)
chr2 181668294 181680664 2q32 2q31.3 601724 NEUROD1, NIDDM Neurogenic differentiation 1 NEUROD1 4760 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Maturity-onset diabetes of the young 6, 606394 (3) Neurod1 (MGI:1339708)
chr2 181891715 181930737 2q31.3 2q31.3 118990 SSFA2, CS1 Sperm-specific antigen 2 SSFA2 6744 ENSG00000138434 Ssfa2 (MGI:1917849)
chr2 181954240 182131381 2q32.1 2q31.3-q32.1 613240 PPP1R1C, IPP5 Protein phosphatase 1, regulatory subunit 1C PPP1R1C 151242 ENSG00000150722 Ppp1r1c (MGI:1923185)
chr2 182100000 196600000 2q32.1-q32.3 602087 ARVD4 Arrhythmogenic right ventricular dysplasia 4 ARVD4 425 Arrhythmogenic right ventricular dysplasia 4, 602087 (2), Autosomal dominant
chr2 182100000 188500000 2q32.1 612361 SCZD14 Schizophrenia 14 100196913 associated with rs1344706 {Schizophrenia, susceptibility to, 14}, 612361 (2)
chr2 182140034 182523374 2q32.1 2q32.1 171890 PDE1A Phosphodiesterase-1A PDE1A 5136 ENSG00000115252 Pde1a (MGI:1201792)
chr2 182715978 182780024 2p23.1-p22.1 2q32.1 607987 DNAJC10, ERDJ5, JPDI DNAJ/HSP40 homolog, subfamily C, member 10 DNAJC10 54431 ENSG00000077232 Dnajc10 (MGI:1914111)
chr2 182833274 182866769 2q31-q33 2q32.1 605083 FRZB, FRZB1, SRFP3, OS1 Frizzled-related protein FRZB 2487 ENSG00000162998 {Osteoarthritis susceptibility 1}, 165720 (3), Multifactorial Frzb (MGI:892032)
chr2 182924850 183038857 2q32.1-q32.2 2q32.1 604891 NCKAP1, NAP1 NCK-associated protein 1 NCKAP1 10787 ENSG00000061676 Nckap1 (MGI:1355333)
chr2 183117479 183161683 2q32.1 2q32.1 608140 NUP35, NP44 Nucleoporin, 35kD NUP35 129401 ENSG00000163002 Nup35 (MGI:1916732)
chr2 184598365 184939486 2q32.1 2q32.1 612282 ZNF804A, C2orf10 Zinc finger protein 804A ZNF804A 91752 ENSG00000170396 Zfp804a (MGI:2442949)
chr2 185738835 185833288 2q32.1 2q32.1 615796 FSIP2 Fibrous sheath-interacting protein 2 FSIP2 401024 ENSG00000188738 Fsip2 (MGI:2664111)
chr2 186590062 186680901 2q31 2q32.1 193210 ITGAV, VNRA Integrin, alpha-V (vitronectin receptor, alpha polypeptide) ITGAV 3685 ENSG00000138448 Itgav (MGI:96608)
chr2 187341962 187448303 2q31-q32 2q32.1 114190 CALCRL, CGRPR, CRLR Calcitonin receptor-like CALCRL 10203 ENSG00000064989 Calcrl (MGI:1926944)
chr2 187464229 187554504 2q31-q32.1 2q32.1 152310 TFPI, LACI Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) TFPI 7035 ENSG00000003436 Tfpi (MGI:1095418)
chr2 188291668 188595925 2q32.2-q33 2q32.1-q32.2 608165 GULP1, CED6 PTB domain-containing engulfment adaptor protein 1 GULP1 51454 ENSG00000144366 Gulp1 (MGI:1920407)
chr2 188733737 188790103 2q33 2q32.2 606423 DIRC1 Disrupted in renal cancer 1 DIRC1 116093 ENSG00000174325
chr2 188974372 189012745 2q32.2 2q32.2 120180 COL3A1, EDSVASC Collagen III, alpha-1 polypeptide COL3A1 1281 ENSG00000168542 in same 35kb segment as COL5A2 Ehlers-Danlos syndrome, vascular type, 130050 (3), Autosomal dominant Col3a1 (MGI:88453)
chr2 189031914 189225300 2q32.2 2q32.2 120190 COL5A2, EDSCL2 Collagen V, alpha-2 polypeptide COL5A2 1290 ENSG00000204262 very close to COL3A1 Ehlers-Danlos syndrome, classic type, 2, 130010 (3), Autosomal dominant Col5a2 (MGI:88458)
chr2 189560589 189580810 2q32 2q32.2 604653 SLC40A1, SLC11A3, FPN1, IREG1, HFE4 Solute carrier family 40 (iron-regulated transporter), member 1 SLC40A1 30061 ENSG00000138449 Hemochromatosis, type 4, 606069 (3), Autosomal dominant Slc40a1 (MGI:1315204)
chr2 189674291 189763058 2q32.2 2q32.2 609803 FLJ25415 FLJ25415 gene ANKAR 150709 ENSG00000151687 Ankar (MGI:2442559)
chr2 189766266 189784370 2q32.2 2q32.2 610073 ORMDL1 ORM1-like protein 1 ORMDL1 94101 ENSG00000128699 pseudogene on 10p14 Ormdl1 (MGI:2181669)
chr2 189784084 189877628 2q31-q33 2q32.2 600258 PMS1, PMSL1, HNPCC3 Postmeiotic segregation increased, S. cerevisiae, like 1 PMS1 5378 ENSG00000064933 Pms1 (MGI:1202302)
chr2 189879478 190203483 2q32.2 2q32.2 615117 C2orf88, SMAKAP Small membrane protein kinase A-anchoring protein C2orf88 84281 ENSG00000187699 1700019D03Rik (MGI:1914330)
chr2 190055699 190062728 2q32.2 2q32.2 601788 GDF8, MSTN, MSLHP Growth differentiation factor-8 (myostatin) MSTN 2660 ENSG00000138379 Muscle hypertrophy, 614160 (3) Mstn (MGI:95691)
chr2 190204633 190320044 2q32.2 2q32.2 610690 HIBCH 3-hydroxyisobutyryl-CoA hydrolase HIBCH 26275 ENSG00000198130 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3), Autosomal recessive Hibch (MGI:1923792)
chr2 190343469 190371664 2q32 2q32.2 147263 INPP1 Inositol polyphosphate-1-phosphatase INPP1 3628 ENSG00000151689 Inpp1 (MGI:104848)
chr2 190408354 190502314 2q32.2 2q32.2 613476 MFSD6, MMR2 Major facilitator superfamily domain-containing protein 6 MFSD6 54842 ENSG00000151690 Mfsd6 (MGI:1922925)
chr2 190454087 190607125 2q32.2 2q32.2 616497 NEMP2, TMEM194B Nuclear envelope integral membrane protein 2 NEMP2 100131211 ENSG00000189362 Nemp2 (MGI:2444113)
chr2 190648859 190692765 2q32.3-q33 2q32.2 600800 NAB1 NGFI-A-binding protein, ERG1-binding protein NAB1 4664 ENSG00000138386 Nab1 (MGI:107564)
chr2 190880820 190965551 2q32-q34 2q32.2 138280 GLS, GLS1 Glutaminase GLS 2744 ENSG00000115419 Gls (MGI:95752)
chr2 190968988 191014249 2q32.2-q32.3 2q32.2 600555 STAT1, CANDF7, IMD31A, IMD31B, IMD31C Signal transducer and activator of transcription-1 STAT1 6772 ENSG00000115415 Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3), Autosomal dominant; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3), Autosomal recessive; Immunodeficiency 31C, autosomal dominant, 614162 (3), Autosomal dominant Stat1 (MGI:103063)
chr2 191029575 191172683 2q32.2-q32.3 2q32.2-q32.3 600558 STAT4, SLEB11 Signal transducer and activator of transcription-4 STAT4 6775 ENSG00000138378 {Systemic lupus erythematosus, susceptibility to, 11}, 612253 (3) Stat4 (MGI:103062)
chr2 191245275 191425388 2q32 2q32.3 606537 MYO1B Myosin IB MYO1B 4430 ENSG00000128641 Myo1b (MGI:107752)
chr2 191678071 191688521 2q32.3 2q32.3 612103 OBFC2A, SSB2 Oligonucleotide/oligosaccharide-binding fold-containing protein 2A NABP1 64859 ENSG00000173559 Nabp1 (MGI:1923258)
chr2 191834304 191847279 2q32-q33 2q32.3 606728 CAVIN2, SDPR, SDR Caveolae-associated protein 2 CAVIN2 8436 ENSG00000168497 Cavin2 (MGI:99513)
chr2 191948299 192194932 2q32-q33 2q32.3 605734 TMEFF2, HPP1, TR Transmembrane protein with EGF-like and 2 follistatin-like domains 2 TMEFF2 23671 ENSG00000144339 Tmeff2 (MGI:1861735)
chr2 192749844 192776898 2q32 2q32.3 605443 PCGEM1 Prostate-specific gene PCGEM1 PCGEM1 64002
chr2 195737603 196068811 2q33.1 2q32.3 610061 DNAH7, KIAA0944 Dynein, axonemal, heavy chain 7 DNAH7 56171 ENSG00000118997 Dnah7c,Dnah7b,Dnah7a (MGI:3639762,MGI:2684953,MGI:2685838)
chr2 196133582 196176502 2q32.3 2q32.3 604727 STK17B, DRAK2 Serine/threonine protein kinase 17b STK17B 9262 ENSG00000081320 Stk17b (MGI:2138162)
chr2 196194369 196593691 2q32.3 2q32.3 617245 HECW2, NEDL2, KIAA1301, NDHSAL HECT, C2, and WW domains-containing E3 ubiquitin-protein ligase 2 HECW2 57520 ENSG00000138411 Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 (3), Autosomal dominant Hecw2 (MGI:2685817)
chr2 196600000 202500000 2q33.1 612586 ANIB9 Aneurysm, intracranial berry, 9 100271688 associated with rs700651 {Aneurysm, intracranial berry, 9}, 612586 (2)
chr2 196600000 220700000 2q33-q35 177500 CHE2 Cholinesterase, serum, 2 linkage to chr. 16 markers?
chr2 196600000 230100000 2q33-q36 614280 EJM9 Epilepsy, juvenile myoclonic, susceptibility to, 9 100750238 max lod at D2S2248 {Epilepsy, juvenile myoclonic, susceptibility to, 9}, 614280 (2), Autosomal dominant
chr2 196600000 208200000 2q33 610439 RLS4 Restless legs syndrome, susceptibility to, 4 100188813 between D2S311 and D2S317 {Restless legs syndrome 4}, 610439 (2)
chr2 196763031 196799767 2q33.1 2q33.1 604888 GTF3C3, TFIIIC102 General transcription factor 3C, polypeptide 3 GTF3C3 9330 ENSG00000119041 Gtf3c3 (MGI:2138383)
chr2 196833003 196926994 2q33.1 2q33.1 611655 PGAP1, MRT42 Post-GPI attachment to proteins 1 PGAP1 80055 ENSG00000197121 Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive Pgap1 (MGI:2443342)
chr2 197391973 197435092 2q33.1 2q33.1 605590 SF3B1, SF3B155, SAP155, MDS Splicing factor 3B, subunit 1 SF3B1 23451 ENSG00000115524 Myelodysplastic syndrome, somatic, 614286 (3) Sf3b1 (MGI:1932339)
chr2 197486583 197500273 2q33.1 2q33.1 118190 HSPD1, SPG13, HSP60, HLD4 Heat-shock 60kD protein 1 HSPD1 3329 ENSG00000144381 Leukodystrophy, hypomyelinating, 4, 612233 (3), Autosomal recessive; Spastic paraplegia 13, autosomal dominant, 605280 (3), Autosomal dominant Hspd1 (MGI:96242)
chr2 197499996 197503462 2q33.1 2q33.1 600141 HSPE1, HSP10 Heat-shock 10kD protein HSPE1 3336 ENSG00000115541 Hspe1 (MGI:104680)
chr2 197515570 197553698 2q33.1 2q33.1 609361 MOB4, MOBKL3, PREI3, MOB1, MOB3 MOB family, member 4 MOB4 25843 ENSG00000115540 Mob4 (MGI:104899)
chr2 197705303 197708389 2q33.1 2q33.1 609728 MARS2, SPAX3, COXPD25 Methionyl-tRNA synthetase 2 MARS2 92935 ENSG00000247626 mutation identified in 1 COXPD25 family ?Combined oxidative phosphorylation deficiency 25, 616430 (3), Autosomal recessive; Spastic ataxia 3, autosomal recessive, 611390 (3), Autosomal recessive Mars2 (MGI:2444136)
chr2 197726878 197786311 2q33 2q33.1 606165 BOLL, BOULE BOL-like (Boule, Drosophila, homolog of) BOLL 66037 ENSG00000152430 Boll (MGI:1922638)
chr2 197804701 198149883 2q33 2q33.1 600597 PLDL1, PLCE, PLCL Phospholipase C-like 1 PLCL1 5334 ENSG00000115896 Plcl1 (MGI:3036262)
chr2 199269499 199471265 2q33 2q33.1 608148 SATB2, KIAA1034, GLSS Special AT-rich sequence-binding protein 2 SATB2 23314 ENSG00000119042 Glass syndrome, 612313 (3), Autosomal dominant Satb2 (MGI:2679336)
chr2 199663331 199851179 2q33.1 2q33.1 614308 FTCDNL1, FONG Formiminotransferase cyclodeaminase N-terminal like FTCDNL1 348751 ENSG00000226124
chr2 199955316 199964124 2q33.1 2q33.1 617267 MAIP1, C2orf47 Matrix AAA peptidase-interacting protein 1 MAIP1 79568 ENSG00000162972 Maip1 (MGI:1915365)
chr2 200305880 200482262 2q33.1 2q33.1 613817 SPATS2L, SGNP Spermatogenesis-associated serine-rich protein 2-like SPATS2L 26010 ENSG00000196141 Spats2l (MGI:1914448)
chr2 200510197 200584094 2q33.1 2q33.1 612425 SGOL2, SGO2, TRIPIN Shugoshin-like 2 SGO2 151246 ENSG00000163535 Sgo2a,Sgo2b (MGI:1098767,MGI:3644562)
chr2 200585951 200677063 2q33 2q33.1 602841 AOX1 Aldehyde oxidase-1 AOX1 316 ENSG00000138356 Aox1 (MGI:88035)
chr2 200853008 200864743 2q33 2q33.1 601951 CLK1, CLK, STY CDC-like kinase 1 CLK1 1195 ENSG00000013441 Clk1 (MGI:107403)
chr2 200870906 200889332 2q33 2q33.1 615811 PPIL3 Peptidyl-prolyl isomerase-like 3 PPIL3 53938 ENSG00000240344 Ppil3 (MGI:1917475)
chr2 200889326 200903931 2q33 2q33.1 605778 NIF3L1 Ngg1 interacting factor 3, S. pombe, homolog of, like 1 NIF3L1 60491 ENSG00000196290 Nif3l1 (MGI:1929485)
chr2 200910170 200963700 2q33 2q33.1 601182 ORC2, ORC2L Origin recognition complex, subunit 2, S. cerevisiae, homolog of ORC2 4999 ENSG00000115942 Orc2 (MGI:1328306)
chr2 201071738 201085749 2q31.3 2q33.1 603839 NDUFB3 NADH-ubiquinone oxidoreductase 1 beta subcomplex, 3 NDUFB3 4709 ENSG00000119013 pseudogenes on chr. 1, 9, and 14 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufb3 (MGI:1913745)
chr2 201116103 201172687 2q33 2q33.1 603599 CFLAR, FLIP, CASPER, FLAME1, CASH CASP8- and FADD-like apoptosis regulator CFLAR 8837 ENSG00000003402 Cflar (MGI:1336166)
chr2 201182880 201229405 2q33-q34 2q33.1 601762 CASP10, MCH4, ALPS2 Caspase 10, apoptosis-related cysteine protease CASP10 843 ENSG00000003400 Autoimmune lymphoproliferative syndrome, type II, 603909 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3)
chr2 201233442 201287710 2q33 2q33.1 601763 CASP8, MCH5, ALPS2B Caspase 8, apoptosis-related cysteine protease CASP8 841 ENSG00000064012 mutation identified in 1 ALPS2B family ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3), Autosomal recessive; {Breast cancer, protection against}, 114480 (3), Autosomal dominant; Hepatocellular carcinoma, somatic, 114550 (3); {Lung cancer, protection against}, 211980 (3), Autosomal recessive Casp8 (MGI:1261423)
chr2 201377206 201451595 2q33-q34 2q33.1 607334 TRAK2, GRIF1, ALS2CR3, KIAA0549, OIP98 Gamma-aminobutyric acid receptor-interacting factor 1 TRAK2 66008 ENSG00000115993 Trak2 (MGI:1918077)
chr2 201451668 201480850 2q33-q34 2q33.1 607333 STRADB, ILPIP, ALS2CR2 STE20-related kinase adaptor beta STRADB 55437 ENSG00000082146 pseudogenes on chromosomes 1 and 9 Stradb (MGI:2144047)
chr2 201620183 201643528 2q33.2 2q33.1 614423 TMEM237, ALS2CR4, JBTS14 Transmembrane protein 237 TMEM237 65062 ENSG00000155755 Joubert syndrome 14, 614424 (3), Autosomal recessive Tmem237 (MGI:2138365)
chr2 201644873 201700262 2q31 2q33.1 606575 MPP4, DLG6 Membrane protein, palmitoylated 4 MPP4 58538 ENSG00000082126 Mpp4 (MGI:2386681)
chr2 201700262 201781171 2q33 2q33.1 606352 ALS2, ALSJ, PLSJ, IAHSP Alsin ALS2 57679 ENSG00000003393 Amyotrophic lateral sclerosis 2, juvenile, 205100 (3), Autosomal recessive; Primary lateral sclerosis, juvenile, 606353 (3), Autosomal recessive; Spastic paralysis, infantile onset ascending, 607225 (3), Autosomal recessive Als2 (MGI:1921268)
chr2 201790323 201895549 2q33.1 2q33.1 616147 CDK15, PFTAIRE2, ALS2CR7 Cyclin-dependent kinase 15 CDK15 65061 ENSG00000138395 Cdk15 (MGI:3583944)
chr2 202034586 202038436 2q33 2q33.1 603410 FZD7 Frizzled, Drosophila, homolog of, 7 FZD7 8324 ENSG00000155760 Fzd7 (MGI:108570)
chr2 202206179 202238598 2q32.2-q33 2q33.1 601912 SUMO1, UBL1, SMT3, OFC10 Small ubiquitin-like modifier 1 SUMO1 7341 ENSG00000116030 mutation identified in 1 OFC10 patient ?Orofacial cleft 10, 613705 (3), Isolated cases Sumo1 (MGI:1197010)
chr2 202265715 202303660 2p33.1 2q33.1 616742 NOP58, NOP5 Nop58, S. cerevisiae, homolog of NOP58 51602 ENSG00000055044 Nop58 (MGI:1933184)
chr2 202376309 202567750 2q33 2q33.1-q33.2 600799 BMPR2, PPH1, POVD1 Bone morphogenetic receptor, type II BMPR2 659 ENSG00000204217 Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3), Autosomal dominant; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3), Autosomal dominant; Pulmonary venoocclusive disease 1, 265450 (3), Autosomal dominant Bmpr2 (MGI:1095407)
chr2 202878918 202912225 2q33.2 2q33.2 616620 WDR12 WD repeat-containing protein 12 WDR12 55759 ENSG00000138442 Wdr12 (MGI:1927241)
chr2 202912217 202988260 2q33 2q33.2 607586 ALS2CR8, CARF Amyotrophic lateral sclerosis 2 chromosome region, candidate 8 (calcium response factor) CARF 79800 ENSG00000138380 Carf (MGI:2182269)
chr2 203013783 203225193 2q33-q34 2q33.2 609816 NBEAL1, ALS2CR17 Neurobeachin-like 1 NBEAL1 65065 ENSG00000144426 Nbeal1 (MGI:2444343)
chr2 203706474 203739755 2q33-q34 2q33.2 186760 CD28 CD28 antigen (Tp44) CD28 940 ENSG00000178562 Cd28 (MGI:88327)
chr2 203867787 203873959 2q33 2q33.2 123890 CTLA4, IDDM12, CELIAC3, ALPS5 Cytotoxic T-lymphocyte-associated serine esterase-4 CTLA4 1493 ENSG00000163599 Autoimmune lymphoproliferative syndrome, type V, 616100 (3), Autosomal dominant; {Celiac disease, susceptibility to, 3}, 609755 (3); {Diabetes mellitus, insulin-dependent, 12}, 601388 (3); {Hashimoto thyroiditis}, 140300 (3), Autosomal dominant; {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant Ctla4 (MGI:88556)
chr2 203936747 203961576 2q33 2q33.2 604558 ICOS, AILIM, CVID1 Inducible costimulator ICOS 29851 ENSG00000163600 Immunodeficiency, common variable, 1, 607594 (3), Autosomal recessive Icos (MGI:1858745)
chr2 204100000 208200000 2q33.3 610839 OS4, GOA1 Osteoarthritis susceptibility 4 100188821 max lod at D2S2358 {Osteoarthritis susceptibility 4}, 610839 (2)
chr2 205682499 205798132 2q34 2q33.3 602070 NRP2, VEGF1265R2, NPN2 Neuropilin 2 NRP2 8828 ENSG00000118257 Nrp2 (MGI:1100492)
chr2 206123078 206159518 2q33-q34 2q33.3 157655 NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kD NDUFS1 4719 ENSG00000023228 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufs1 (MGI:2443241)
chr2 206159593 206162928 2q33-q34 2q33.3 600655 EEF1B2, EEF1B1 Eukaryotic translation elongation factor-1, beta-2 EEF1B2 1933 ENSG00000114942 pseudogene on chr.15 Eef1b2 (MGI:1929520)
chr2 206175315 206218046 2q33.3 2q33.3 600239 GPR1 G protein-coupled receptor-1 GPR1 2825 ENSG00000183671 conflicting assignment to 15q21.6 Gpr1 (MGI:2385324)
chr2 206203375 206266242 2q33.3 2q33.3 617636 GPR1AS GPR1 antisense RNA GPR1-AS 101669764
chr2 206273571 206314437 2q33.3 2q33.3 617059 ZDBF2, KIAA1571 Zinc finger DBF domain-containing protein 2 ZDBF2 57683 ENSG00000204186 Zdbf2 (MGI:1921134)
chr2 206443543 206621129 2q33 2q33.3 603710 ADAM23, MDC3 A disintegrin and metalloproteinase domain 23 ADAM23 8745 ENSG00000114948 Adam23 (MGI:1345162)
chr2 206765387 206796188 2q33.3 2q33.3 612322 FASTKD2, KIAA0971 FAST kinase domains 2 FASTKD2 22868 ENSG00000118246 mutation identified in 1 family ?Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial Fastkd2 (MGI:1922869)
chr2 207074136 207173850 2q32 2q33.3 604865 KLF7, UKLF Kruppel-like factor 7 KLF7 8609 ENSG00000118263 Klf7 (MGI:1935151)
chr2 207529891 207605988 2q32.3-q34 2q33.3 123810 CREB1 cAMP-response element-binding protein-1 CREB1 1385 ENSG00000118260 fusion gene with EWSR1 Histiocytoma, angiomatoid fibrous, somatic, 612160 (3) Creb1 (MGI:88494)
chr2 207580630 207626052 2q33.3 2q33.3 615257 METTL21A, FAM119A Methyltransferase-like 21A METTL21A 151194 ENSG00000144401 Mettl21a (MGI:1914349)
chr2 207753888 207769562 2q33-q34 2q33.3 601723 FZD5 Polarity gene 'frizzled,' Drosophila, homolog of FZD5 7855 ENSG00000163251 Fzd5 (MGI:108571)
chr2 208121606 208124588 2q33-q35 2q33.3 123690 CRYGD, CRYG4, CTRCT4, CACA, CCA3, PCC Crystallin, gamma D CRYGD 1421 ENSG00000118231 Cataract 4, multiple types, 115700 (3), Autosomal dominant Crygd (MGI:88524)
chr2 208128136 208139099 2q33-q35 2q33.3 123680 CRYGC, CRYG3, CTRCT2, CCL Crystallin, gamma C CRYGC 1420 ENSG00000163254 Cataract 2, multiple types, 604307 (3), Autosomal dominant Crygc (MGI:88523)
chr2 208142572 208146326 2q33-q35 2q33.3 123670 CRYGB, CRYG2, CTRCT39 Crystallin, gamma B CRYGB 1419 ENSG00000182187 Cataract 39, multiple types, autosomal dominant, 615188 (3), Autosomal dominant Crygb (MGI:88522)
chr2 208160739 208163572 2q33-q35 2q33.3 123660 CRYGA, CRYG1 Crystallin, gamma A CRYGA 1418 ENSG00000168582 Cryga (MGI:88521)
chr2 208165346 208190257 2q34 2q33.3 615536 C2orf80, GONDA1 Chromosome 2 open reading frame 80 C2orf80 389073 ENSG00000188674 D630023F18Rik (MGI:2138198)
chr2 208200000 230100000 2q34-q36 185900 DUP2q35, C2DUPq35, SDTY1, SD1 Chromosome 2q35 duplication syndrome (syndactyly, type I) Syndactyly, type 1, with or without craniosynostosis, 185900 (4), Autosomal dominant
chr2 208200000 214500000 2q34 601318 IDDM13 Insulin-dependent diabetes mellitus-13 IDDM13 3412 {Diabetes mellitus, insulin-dependent, 13}, 601318 (2)
chr2 208200000 220700000 2q34-q35 607966 SLEN2 Systemic lupus erythematosus with nephritis, susceptibility to, 2 SLEN2 192679 {Systemic lupus erythematosus with nephritis, susceptibility to, 2}, 607966 (2)
chr2 208200000 214500000 2q34 186860 TCL4 T-cell leukemia/lymphoma-4 TCL4 6946 Leukemia/lymphoma, T-cell, 186860 (2)
chr2 208236226 208255142 2q33.3 2q34 147700 IDH1 Isocitrate dehydrogenase, soluble IDH1 3417 ENSG00000138413 {Glioma, susceptibility to, somatic}, 137800 (3) Idh1 (MGI:96413)
chr2 208266177 208358750 2q35 2q34 609414 PIKFYVE, PIP5K3 Phosphatidylinositol kinase, FYVE-finger containing PIKFYVE 200576 ENSG00000115020 Corneal fleck dystrophy, 121850 (3), Autosomal dominant Pikfyve (MGI:1335106)
chr2 208359844 208494505 2q33 2q34 601469 PTHR2 Parathyroid hormone receptor 2 PTH2R 5746 ENSG00000144407 Pth2r (MGI:2180917)
chr2 209424046 209734117 2q34-q35 2q34 157130 MAP2 Microtubule-associated protein-2 MAP2 4133 ENSG00000078018 Map2 (MGI:97175)
chr2 209771924 209999299 2q35 2q34 612636 UNC80, C2orf21, KIAA1843 Unc-80 homolog, NALCN activator UNC80 285175 ENSG00000144406 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive Unc80 (MGI:2652882)
chr2 210002564 210023362 2q32-q33.3 2q34 180480 RPE Ribulose 5-phosphate 3-epimerase RPE 6120 ENSG00000197713 Rpe (MGI:1913896)
chr2 210021420 210171369 2q34 2q34 613833 KANSL1L, C2orf67, MSL1V2 KAT8 regulatory NSL complex subunit 1-like KANSL1L 151050 ENSG00000144445 Kansl1l (MGI:1915941)
chr2 210187989 210225490 2q34-q35 2q34 609576 ACADL, LCAD Acyl-Coenzyme A dehydrogenase, long chain ACADL 33 ENSG00000115361 Acadl (MGI:87866)
chr2 210290143 210315170 2q32.1-qter 2q34 160780 MYL1 Myosin, light polypeptide-1, alkali; skeletal, fast MYL1 4632 ENSG00000168530 Myl1 (MGI:97269)
chr2 210431248 210477617 2q34 2q34 604155 LANCL1, GPR69A LanC-like 1 (G protein-coupled receptor 69A) LANCL1 10314 ENSG00000115365 Lancl1 (MGI:1336997)
chr2 210477681 210679106 2q35 2q34 608307 CPS1, PHN Carbamoyl-phosphate synthetase 1, mitochondrial CPS1 1373 ENSG00000021826 urea cycle enzyme Carbamoylphosphate synthetase I deficiency, 237300 (3), Autosomal recessive; {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3); {Venoocclusive disease after bone marrow transplantation} (3) Cps1 (MGI:891996)
chr2 211375716 212538627 2q34 2q34 600543 ERBB4, HER4, ALS19 Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4 ERBB4 2066 ENSG00000178568 Amyotrophic lateral sclerosis 19, 615515 (3), Autosomal dominant Erbb4 (MGI:104771)
chr2 212999683 213155296 2q34 2q34 606234 IKZF2, ANF1A2, HELIOS Ikaros family zinc finger 2 IKZF2 22807 ENSG00000030419 Ikzf2 (MGI:1342541)
chr2 213284368 214410500 2q34 2q34 612173 SPAG16, PF20 Sperm-associated antigen 16 SPAG16 79582 ENSG00000144451 Spag16 (MGI:1913972)
chr2 214500000 220700000 2q35 607949 MTBS1 Mycobacterium tuberculosis, susceptibility to infection by 404716 {Tuberculosis, susceptibility to}, 607949 (2)
chr2 214500000 220700000 2q35 613016 NBLST5 Neuroblastoma, susceptibility to, 5 100306938 associated with rs6435862, rs3768716 {Neuroblastoma, susceptibility to, 5}, 613016 (2)
chr2 214500000 230100000 2q35-q36 609153 PSHK2 Pseudohyperkalemia, familial, 2, due to red cell leak max lod at D2S1338 Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (2), Autosomal dominant
chr2 214725644 214809710 2q34-q35 2q35 601593 BARD1 BRCA1-associated RING domain 1 BARD1 580 ENSG00000138376 {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant Bard1 (MGI:1328361)
chr2 214931541 215138590 2q34 2q35 607800 ABCA12, ARCI4A, ARCI4B, ICR2B, LI2 ATP-binding cassette, subfamily A, member 12 ABCA12 26154 ENSG00000144452 Ichthyosis, congenital, autosomal recessive 4A, 601277 (3), Autosomal recessive; Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3), Autosomal recessive Abca12 (MGI:2676312)
chr2 215311955 215359744 2q35 2q35 601731 ATIC, PURH, AICAR 5-aminoimidazole-4-carboxyamide ribonucleotide formyltransferase/IMP cyclohydrolase ATIC 471 ENSG00000138363 AICA-ribosiduria due to ATIC deficiency, 608688 (3), Autosomal recessive Atic (MGI:1351352)
chr2 215360439 215436166 2q34 2q35 135600 FN1, FN, LETS, FNZ, GFND2, SMDCF Fibronectin-1 FN1 2335 ENSG00000115414 Glomerulopathy with fibronectin deposits 2, 601894 (3), Autosomal dominant; Plasma fibronectin deficiency, 614101 (1), Autosomal dominant; Spondylometaphyseal dysplasia, corner fracture type, 184255 (3), Autosomal dominant Fn1 (MGI:95566)
chr2 215939096 216013622 2q35 2q35 609207 MREG, DSU Melanoregulin MREG 55686 ENSG00000118242 Mreg (MGI:2151839)
chr2 216031655 216081842 2q35 2q35 605843 PECR, TERP Peroxisomal trans-2-enoyl-CoA reductase PECR 55825 ENSG00000115425 Pecr (MGI:2148199)
chr2 216109296 216206292 2q35 2q35 194364 XRCC5 X-ray repair, complementing defective, repair in Chinese hamster cells-5 XRCC5 7520 ENSG00000079246 included in YAC contig spanning 2q33-q34 Xrcc5 (MGI:104517)
chr2 216257861 216372026 2q35 2q35 608208 MARCH4, RNF174, KIAA1399 Membrane-associated RING-CH finger protein 4 MARCH4 57574 ENSG00000144583 March4 (MGI:2683550)
chr2 216412413 216483052 2q34-q36 2q35 606622 SMARCAL1, HARP, SIOD SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A-like SMARCAL1 50485 ENSG00000138375 Schimke immunoosseous dysplasia, 242900 (3), Autosomal recessive Smarcal1 (MGI:1859183)
chr2 216498796 216501466 2q35 2q35 613314 RPL37A Ribosomal protein L37A RPL37A 6168 ENSG00000197756 Rpl37a (MGI:98068)
chr2 216632827 216664435 2q33-q34 2q35 146731 IGFBP2 Insulin-like growth factor-binding protein-2, 36kD IGFBP2 3485 ENSG00000115457 Igfbp2 (MGI:96437)
chr2 216672104 216695548 2q33-q36 2q35 146734 IGFBP5, IBP5 Insulin-like growth factor-binding protein 5 IGFBP5 3488 ENSG00000115461 Igfbp5 (MGI:96440)
chr2 216859457 216860058 2q35-q36 2q35 190231 TNP1 Transition protein-1 TNP1 7141 ENSG00000118245
chr2 217799788 218002994 2q35-q36 2q35 600076 TNS1, TNS Tensin 1 TNS1 7145 ENSG00000079308 Tns1 (MGI:104552)
chr2 218125289 218137252 2q35 2q35 146928 CXCR2, IL8RB, IL8R2 Chemokine, CXC motif, receptor 2 CXCR2 3579 ENSG00000180871 Cxcr2 (MGI:105303)
chr2 218162844 218166992 2q35 2q35 146929 CXCR1, IL8RA Chemokine, CXC motif, receptor 1 CXCR1 3577 ENSG00000163464 {AIDS, slow progression to}, 609423 (3) Cxcr1 (MGI:2448715)
chr2 218217093 218254347 2q35 2q35 604224 ARPC2, ARC34 Actin-related protein 2/3 complex, subunit 2 ARPC2 10109 ENSG00000163466 Arpc2 (MGI:1923959)
chr2 218259495 218263860 2q35 2q35 610147 GPBAR1, BG37 G protein-coupled bile acid receptor 1 GPBAR1 151306 ENSG00000179921 Gpbar1 (MGI:2653863)
chr2 218264126 218270208 2q35 2q35 603488 AAMP Angio-associated migratory cell protein AAMP 14 ENSG00000127837 Aamp (MGI:107809)
chr2 218270391 218346792 2q35 2q35 609023 MR1, TAHCCP2, KIPP1184, BRP17, PNKD1, FPD1, PDC, DYT8 Myofibrillogenesis regulator 1 PNKD 25953 ENSG00000127838 Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3), Autosomal dominant Pnkd (MGI:1930773)
chr2 218274191 218292576 2q35 2q35 610364 TMBIM1, RECS1 Transmembrane BAX inhibitor motif-containing protein 1 TMBIM1 64114 ENSG00000135926 Tmbim1 (MGI:1916910)
chr2 218381765 218396893 2q35 2q35 600266 NRAMP1, NRAMP, SLC11A1 Solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 SLC11A1 6556 ENSG00000018280 within 220 kb of VIL1 {Buruli ulcer, susceptibility to}, 610446 (3); {Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3) Slc11a1 (MGI:1345275)
chr2 218398337 218405940 2q34 2q35 605323 CTDSP1, NLIIF, SCP1 C-terminal domain of RNA polymerase II polypeptide A, small phosphatase of, 1 CTDSP1 58190 ENSG00000144579 Ctdsp1 (MGI:2654470)
chr2 218402645 218402721 2q35 2q35 612152 MIR26B, MIRN26B Micro RNA 26B MIR26B 407017
chr2 218419114 218449524 2q35-q36 2q35 193040 VIL1 Villin-1 VIL1 7429 ENSG00000127831 Cholestasis, progressive canalicular (1) Vil1 (MGI:98930)
chr2 218568577 218596434 2q35 2q35 612054 RQCD1, RCD1, CNOT9 Required for cell differentiation 1, S. pombe, homolog of CNOT9 9125 ENSG00000144580 Cnot9 (MGI:1928902)
chr2 218637915 218659631 2q34-q35 2q35 604083 ZNF142 Zinc finger protein-142 ZNF142 7701 ENSG00000115568 Zfp142 (MGI:1924514)
chr2 218659655 218663442 2q33 2q35 603647 BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1 bcs1, S. cerevisiae, homolog-like BCS1L 617 ENSG00000074582 Bjornstad syndrome, 262000 (3), Autosomal recessive; GRACILE syndrome, 603358 (3); Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex III deficiency, nuclear type 1, 124000 (3), Autosomal recessive Bcs1l (MGI:1914071)
chr2 218663863 218672057 2q35 2q35 616014 RNF25, AO7 Ring finger protein 25 RNF25 64320 ENSG00000163481 Rnf25 (MGI:1890215)
chr2 218672025 218702716 2q35 2q35 607652 STK36, FU, KIAA1278 Serine/threonine protein kinase 36 STK36 27148 ENSG00000163482 Stk36 (MGI:1920831)
chr2 218781732 218815292 2q33-qter 2q35 606530 CYP27A1, CYP27, CTX Cytochrome P450, subfamily XXVIIA, polypeptide 1 (sterol 27-hydroxylase) CYP27A1 1593 ENSG00000135929 Cerebrotendinous xanthomatosis, 213700 (3), Autosomal recessive Cyp27a1 (MGI:88594)
chr2 218819948 218831802 2q35 2q35 604976 PRKAG3 Protein kinase, AMP-activated, noncatalytic, gamma 3 PRKAG3 53632 ENSG00000115592 Prkag3 (MGI:1891343)
chr2 218859822 218874231 2q35 2q35 604663 WNT6 Wingless-type MMTV integration site family, member 6 WNT6 7475 ENSG00000115596 Wnt6 (MGI:98960)
chr2 218874115 218893930 2q35 2q35 606268 WNT10A, SSPS, STHAG4, OODD Wingless-type MMTV integration site family, member 10A WNT10A 80326 ENSG00000135925 Odontoonychodermal dysplasia, 257980 (3), Autosomal recessive; Schopf-Schulz-Passarge syndrome, 224750 (3), Autosomal recessive; Tooth agenesis, selective, 4, 150400 (3), Autosomal recessive, Autosomal dominant Wnt10a (MGI:108071)
chr2 218959627 218962154 2q35 2q35 603764 CDK5R2, NCK5AI Cyclin-dependent kinase 5, regulatory subunit 2 CDK5R2 8941 ENSG00000171450 Cdk5r2 (MGI:1330828)
chr2 218981086 218985656 2q36 2q35 607150 FEV Fifth Ewing sarcoma variant FEV 54738 ENSG00000163497 fused with EWS in tumors Fev (MGI:2449712)
chr2 218990189 218993404 2q34-q36 2q35 600836 CRYBA2, CTRCT42 Crystallin, beta A2 CRYBA2 1412 ENSG00000163499 mutation identified in 1 CTRCT42 family ?Cataract 42, 115900 (3), Autosomal dominant Cryba2 (MGI:104336)
chr2 219001644 219001707 2q35 2q35 611173 MIR375, MIRN375 Micro RNA 375 MIR375 494324
chr2 219002845 219043141 2q35 2q35 614270 CFAP65, CCDC108 Cilia- and flagella-associated protein 65 CFAP65 255101 ENSG00000181378 Cfap65 (MGI:2444274)
chr2 219054419 219060515 2q33-q35 2q35 600726 IHH, BDA1 Indian hedgehog IHH 3549 ENSG00000163501 Acrocapitofemoral dysplasia, 607778 (3), Autosomal recessive; Brachydactyly, type A1, 112500 (3), Autosomal dominant Ihh (MGI:96533)
chr2 219075323 219160864 2q35 2q35 611290 NHEJ1, XLF Nonhomologous end-joining factor 1 NHEJ1 79840 ENSG00000187736 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3) Nhej1 (MGI:1922820)
chr2 219206783 219209650 2q35 2q35 613474 ZFAND2B, AIRAPL Zinc finger AN1 domain-containing protein 2B ZFAND2B 130617 ENSG00000158552 Zfand2b (MGI:1916068)
chr2 219209765 219219016 2q36 2q35 605452 ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2 ATP-binding cassette, subfamily B, member 6 ABCB6 10058 ENSG00000115657 [Blood group, Langereis system], 111600 (3); Dyschromatosis universalis hereditaria 3, 615402 (3), Autosomal dominant; Microphthalmia, isolated, with coloboma 7, 614497 (3), Autosomal dominant; Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3), Autosomal dominant Abcb6 (MGI:1921354)
chr2 219219379 219229687 2q35 2q35 612204 ATG9A, APG9L1 Autophagy 9, S. cerevisiae, homolog of, A ATG9A 79065 ENSG00000198925 Atg9a (MGI:2138446)
chr2 219229756 219236668 2q35 2q35 617541 ANKZF1, ZNF744 Ankyrin repeat- and zinc finger domain-containing 1 ANKZF1 55139 ENSG00000163516 Ankzf1 (MGI:1098746)
chr2 219249710 219254607 2q35 2q35 191110 TUBA4A, TUBA1, ALS22 Tubulin, alpha-4A TUBA4A 7277 ENSG00000127824 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 (3), Autosomal dominant Tuba4a (MGI:1095410)
chr2 219279317 219286899 2q35 2q35 604139 DNAJB2, HSJ1, HSPF3, DSMA5 DnaJ, E. coli, homolog of, subfamily B, member 2 (heat-shock protein, DNAJ-like 1) DNAJB2 3300 ENSG00000135924 Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3), Autosomal recessive Dnajb2 (MGI:1928739)
chr2 219289622 219309572 2q35-q36.1 2q35 601773 PTPRN, IA2 Protein tyrosine phosphatase, receptor type N (islet cell antigen 2) PTPRN 5798 ENSG00000054356 Ptprn (MGI:102765)
chr2 219327406 219334534 2q35 2q35 612721 RESP18 Regulated endocrine-specific protein 18 RESP18 389075 ENSG00000182698 Resp18 (MGI:1098222)
chr2 219372028 219400021 2q35 2q35 611367 DNPEP, ASPEP, DAP Aspartyl aminopeptidase DNPEP 23549 ENSG00000123992 Dnpep (MGI:1278328)
chr2 219418376 219426738 2q35 2q35 125660 DES, CMD1I, MFM1, SCPNK, ARVD7, ARVC7, LGMD2R Desmin DES 1674 ENSG00000175084 1 family with LGMD2R identified with mutation Cardiomyopathy, dilated, 1I, 604765 (3); ?Muscular dystrophy, limb-girdle, type 2R, 615325 (3), Autosomal recessive; Myopathy, myofibrillar, 1, 601419 (3), Autosomal recessive, Autosomal dominant; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3), Autosomal dominant Des (MGI:94885)
chr2 219434214 219493631 2q35 2q35 615950 SPEG, APEG1, CNM5 SPEG complex locus SPEG 10290 ENSG00000072195 Centronuclear myopathy 5, 615959 (3), Autosomal recessive Speg (MGI:109282)
chr2 219498864 219506995 2q35 2q35 615495 GMPPA, AAMR GDP-mannose pyrophosphorylase A GMPPA 29926 ENSG00000144591 Alacrima, achalasia, and mental retardation syndrome, 615510 (3), Autosomal recessive Gmppa (MGI:1916330)
chr2 219514169 219538771 2q35-q36 2q35 606715 ACCN4, ASIC4, BNAC4 Cation channel, amiloride-sensitive, neuronal, 4 ASIC4 55515 ENSG00000072182 Asic4 (MGI:2652846)
chr2 219538946 219543764 2q36.1 2q35 610405 CHPF, CSS2 Chondroitin polymerizing factor CHPF 79586 ENSG00000123989 Chpf (MGI:106576)
chr2 219549407 219571572 2q35 2q35 610991 OBSL1, KIAA0657, 3M2 Obscurin-like 1 OBSL1 23363 ENSG00000124006 3-M syndrome 2, 612921 (3)
chr2 219572231 219575712 2q33-q36 2q35 147380 INHA Inhibin, alpha INHA 3623 ENSG00000123999 proximal to PAX3 Inha (MGI:96569)
chr2 219597850 219616450 2q36 2q35 607172 STK11IP, KIAA1898, LIP1 Serine/threonine kinase 11 interacting protein STK11IP 114790 ENSG00000144589 Stk11ip (MGI:1918978)
chr2 219627569 219641979 2q36 2q35 106195 SLC2C, AE3 Anion exchanger 3, neuronal SLC4A3 6508 ENSG00000114923 Slc4a3 (MGI:109350)
chr2 220700000 230100000 2q36 102510 ACRPV Acropectorovertebral dysplasia (F syndrome) 414058 Acropectorovertebral dysplasia, 102510 (2), Autosomal dominant
chr2 220700000 230100000 2q36 613944 IGAN2 IgA nephropathy, susceptibility to, 2 100653384 between D2S1323 and D2S362 {IgA nephropathy, susceptibility to, 2}, 613944 (2), ?Autosomal dominant
chr2 220700000 230100000 2q36.1-q36.3 613238 SPDA3 Spondyloarthropathy, susceptibility to, 3 100379218 max lod at D2S2228 {Spondyloarthropathy, susceptibility to, 3}, 613238 (2)
chr2 221418026 221574201 2q36.1 2q36.1 602188 EPHA4, HEK8, TYRO1 Ephrin receptor EphA4 EPHA4 2043 ENSG00000116106 Epha4 (MGI:98277)
chr2 222199886 222298995 2q36.1 2q36.1 606597 PAX3, WS1, HUP2, CDHS, WS3 Paired box homeotic gene-3 PAX3 5077 ENSG00000135903 Craniofacial-deafness-hand syndrome, 122880 (3), Autosomal dominant; Rhabdomyosarcoma 2, alveolar, 268220 (3), Autosomal recessive; Waardenburg syndrome, type 1, 193500 (3), Autosomal dominant; Waardenburg syndrome, type 3, 148820 (3), Autosomal recessive, Autosomal dominant Pax3 (MGI:97487)
chr2 222424051 222562621 2q36.1 2q36.1 612827 SGPP2, SPP2 Sphingosine-1-phosphate phosphatase 2 SGPP2 130367 ENSG00000163082 Sgpp2 (MGI:3589109)
chr2 222571442 222656354 2q36 2q36.1 609690 FARSLB, FRSB Phenylalanine-tRNA synthetase-like, beta subunit FARSB 10056 ENSG00000116120 Farsb (MGI:1346035)
chr2 222671737 222709929 2q36.1 2q36.1 610268 MOGAT1, MGAT1, DGAT2L1 Monoacylglycerol O-acyltransferase 1 MOGAT1 116255 ENSG00000124003 Mogat1 (MGI:1915643)
chr2 222860933 222944650 2q34-q35 2q36.1 602371 ACSL3, FACL3, ACS3 Acyl-CoA synthetase long-chain family member 3 ACSL3 2181 ENSG00000123983 Acsl3 (MGI:1921455)
chr2 223051929 223055636 2q35-q36 2q36.1 607775 KCNE4, MIRP3 Potassium channel, voltage-gated, ISK-related subfamily, member 4 KCNE4 23704 ENSG00000152049 Kcne4 (MGI:1891125)
chr2 223596939 223602498 2q35-q36 2q36.1 118930 SCG2, CHGC Secretogranin II (chromogranin C) SCG2 7857 ENSG00000171951 Scg2 (MGI:103033)
chr2 223755329 223837601 2q36.1 2q36.1 615781 AP1S3, PSORS15 Adaptor-related protein complex 1, sigma-3 subunit AP1S3 130340 ENSG00000152056 {Psoriasis 15, pustular, susceptibility to}, 616106 (3), Autosomal dominant Ap1s3 (MGI:1891304)
chr2 223950845 223967713 2q36 2q36.1 611849 MRPL44, COXPD16 Mitochondrial ribosomal protein L44 MRPL44 65080 ENSG00000135900 Mutation identified in 1 family ?Combined oxidative phosphorylation deficiency 16, 615395 (3), Autosomal recessive Mrpl44 (MGI:1916413)
chr2 223975047 224039318 2q33-q35 2q36.1 177010 PI7, PN1, SERPINE2 Protease inhibitor 7 (protease nexin I) SERPINE2 5270 ENSG00000135919 near MYL1; ?COPD susceptibility Serpine2 (MGI:101780)
chr2 224300000 225200000 2q36.2 613658 RJBS Rajab syndrome 100528027 between D2S351 and D2S2390 Rajab syndrome, 613658 (2), Autosomal recessive
chr2 224470149 224585396 2q36 2q36.2 603136 CUL3, PHA2E Cullin 3 CUL3 8452 ENSG00000036257 Pseudohypoaldosteronism, type IIE, 614496 (3), Autosomal dominant Cul3 (MGI:1347360)
chr2 224765089 225042688 2q36.2 2q36.2 611518 DOCK10, KIAA0694, ZIZ3 Dedicator of cytokinesis 10 DOCK10 55619 ENSG00000135905 Dock10 (MGI:2146320)
chr2 225399709 225703652 2q36.3 2q36.3 615478 NYPA2, KIAA1486 Neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 2 NYAP2 57624 ENSG00000144460 Nyap2 (MGI:2443135)
chr2 226731316 226798789 2q36 2q36.3 147545 IRS1 Insulin receptor substrate-1 IRS1 3667 ENSG00000169047 {Coronary artery disease, susceptibility to} (3); {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant Irs1 (MGI:99454)
chr2 226800158 226999209 2q36.3 2q36.3 617515 RHBDD1, RRP4, RHBDL4 Rhomboid domain-containing 1 RHBDD1 84236 ENSG00000144468 Rhbdd1 (MGI:1924117)
chr2 226970292 227164558 2q36-q37 2q36.3 120131 COL4A4 Collagen IV, alpha-4 polypeptide COL4A4 1286 ENSG00000081052 head-to-head with COL4A4 in same YAC Alport syndrome, autosomal recessive, 203780 (3), Autosomal recessive; Hematuria, familial benign (3) Col4a4 (MGI:104687)
chr2 227164564 227314791 2q36-q37 2q36.3 120070 COL4A3 Collagen IV, alpha-3 polypeptide (Goodpasture antigen) COL4A3 1285 ENSG00000169031 noncollagenous domain = Goodpasture antigen Alport syndrome, autosomal dominant, 104200 (3), Autosomal dominant; Alport syndrome, autosomal recessive, 203780 (3), Autosomal recessive; Hematuria, benign familial, 141200 (3), Autosomal dominant Col4a3 (MGI:104688)
chr2 227325150 227357835 2q36.3 2q36.3 614785 MFF, C2orf33, EMPF2 Mitochondrial fission factor MFF 56947 ENSG00000168958 Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3), Autosomal recessive
chr2 227362037 227379305 2q36.3 2q36.3 615404 TM4SF20, SLI5 Transmembrane 4 L6 family, member 20 TM4SF20 79853 ENSG00000168955 {Specific language impairment 5}, 615432 (3), Autosomal dominant Tm4sf20 (MGI:1913511)
chr2 227472168 227561221 2q36 2q36.3 600862 AGFG1, HRB, RIP, RAB ADP-ribosylation factor GTPase-activating protein with FG repeats 1 AGFG1 3267 ENSG00000173744 Agfg1 (MGI:1333754)
chr2 227685209 227718029 2q36.3 2q36.3 606152 SLC19A3, THMD2, BBGD Solute carrier family 19 (folate transporter), member 3 SLC19A3 80704 ENSG00000135917 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3), Autosomal recessive Slc19a3 (MGI:1931307)
chr2 227813841 227817563 2q33-q37 2q36.3 601960 CCL20, SCYA20, MIP3A, LARC Chemokine, C-C motif, ligand 20 CCL20 6364 ENSG00000115009 Ccl20 (MGI:1329031)
chr2 227979953 228181998 2q36 2q36.3 611646 SPHKAP, SKIP, KIAA1678 SPHK1 interactor, AKAP domain containing SPHKAP 80309 ENSG00000153820 Sphkap (MGI:1924879)
chr2 229023972 229271340 2q36.3 2q36.3 612930 PID1, NYGGF4 Phosphotyrosine interaction domain-containing 1 PID1 55022 ENSG00000153823 Pid1 (MGI:2138391)
chr2 229357628 229714569 2q37 2q36.3 607299 DNER Delta-and notch-like egf-related receptor DNER 92737 ENSG00000187957 Dner (MGI:2152889)
chr2 229763836 229923233 2q36.3 2q36.3 604506 TRIP12, MRD49 Thyroid hormone receptor interactor 12 TRIP12 9320 ENSG00000153827 Mental retardation, autosomal dominant 49, 617752 (3), Autosomal dominant Trip12 (MGI:1309481)
chr2 229922490 230013912 2q37.1 2q36.3 609105 FBXO36, FBX36 F-box only protein 36 FBXO36 130888 ENSG00000153832 Fbxo36 (MGI:1289192)
chr2 230100000 242193529 2q37 600430 BDMR, C2DELq37, DEL2q37 Chromosome 2q37 deletion syndrome Chromosome 2q37 deletion syndrome, 600430 (4), Autosomal dominant
chr2 230100000 242193529 2q37.1-q37.3 605934 HPE6 Holoprosencephaly 6 117190 Holoprosencephaly 6, 605934 (2)
chr2 230100000 242193529 2q37 606656 IBGC2 Basal ganglia calcification, idiopathic, 2 100874532 Basal ganglia calcification, idiopathic, 2, 606656 (2)
chr2 230100000 234700000 2q37.1 609995 MYP12 Myopia 12 MYP12 664780 max lod at D2S2344 Myopia 12, 609995 (2)
chr2 230100000 234700000 2q37.1 613440 STQTL21 Stature quantitative trait locus 21 100502568 associated with rs6717918 {Stature QTL 21}, 613440 (2)
chr2 230165472 230225728 2q37.1 2q37.1 604457 SP110, IFI41, IFI75, VODI SP110 nuclear body protein (interferon-induced protein 41, 30kD; interferon-induced protein 75, 52kD) SP110 3431 ENSG00000135899 Hepatic venoocclusive disease with immunodeficiency, 235550 (3), Autosomal recessive; {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) Sp110,Gm15753,Gm16026 (MGI:3783243,MGI:1923364,MGI:3783195)
chr2 230327151 230407505 2q37.1 2q37.1 617747 SP140L Nuclear body protein SP140-like SP140L 93349 ENSG00000185404
chr2 230416155 230545601 2q37.1 2q37.1 604585 SP100 Nuclear antigen SP100 SP100 6672 ENSG00000067066
chr2 230712841 230821074 2q37.1 2q37.1 612174 CAB39 Calcium-binding protein 39 CAB39 51719 ENSG00000135932 Cab39 (MGI:107438)
chr2 230864597 230879253 2q37 2q37.1 609554 ITM2C, BRI3 Integral membrane protein 2C ITM2C 81618 ENSG00000135916 Itm2c (MGI:1927594)
chr2 230907317 230961269 2q37 2q37.1 604107 GPR55 G protein-coupled receptor 55 GPR55 9290 ENSG00000135898 Gpr55 (MGI:2685064)
chr2 231056863 231172826 2q37.1 2q37.1 617842 PSMD1 Proteasome 26S subunit, non-ATPase, 1 PSMD1 5707 ENSG00000173692 Psmd1 (MGI:1917497)
chr2 231108229 231126171 2q36.3-q37.1 2q37.1 601122 HTR2B 5-hydroxytryptamine (serotonin) receptor-2B HTR2B 3357 ENSG00000135914 Htr2b (MGI:109323)
chr2 231198545 231394990 2q37.1 2q37.1 617612 ARMC9, KIAA1868, JBTS30 Armadillo repeat-containing protein 9 ARMC9 80210 ENSG00000135931 Joubert syndrome 30, 617622 (3), Autosomal recessive Armc9 (MGI:1926045)
chr2 231395623 231401163 2q37.1 2q37.1 615313 B3GNT7 Beta-1,3-N-acetylglucosaminyltransferase 7 B3GNT7 93010 ENSG00000156966 B3gnt7 (MGI:2384394)
chr2 231454747 231464493 2q12-qter 2q37.1 164035 NCL Nucleolin NCL 4691 ENSG00000115053 Ncl (MGI:97286)
chr2 231460367 231460441 2q12-qter 2q37.1 611133 SNORD82, RNU82 Small nucleolar RNA, C/D box, 82 SNORD82 25826
chr2 231519902 231530470 2q37.1 2q37.1 604153 NMUR1, GPR66, FM3 Neuromedin U receptor 1 NMUR1 10316 ENSG00000171596 Nmur1 (MGI:1341898)
chr2 231708524 231713540 2q36-q37 2q37.1 188390 PTMA, TMSA Prothymosin, alpha (gene sequence 28) PTMA 5757 ENSG00000187514
chr2 231732424 231781326 2q36-q37 2q37.1 602676 PDE6D, JBTS22 Phosphodiesterase 6D, cGMP-specific, rod, delta PDE6D 5147 ENSG00000156973 mutation identified in 1 JBTS22 family ?Joubert syndrome 22, 615665 (3), Autosomal recessive Pde6d (MGI:1270843)
chr2 231781670 231809252 2q37.1 2q37.1 616010 COPS7B COP9 signalosome, subunit 7B COPS7B 64708 ENSG00000144524 Cops7b (MGI:1349388)
chr2 231922093 231926404 2q24-qter 2q37.1 600296 NPPC Natriuretic peptide precursor C NPPC 4880 ENSG00000163273 Nppc (MGI:97369)
chr2 231961582 232343967 2q37.2 2q37.1 614184 DIS3L2, PRLMNS Dis3 mitotic control, S. cerevisiae, homolog-like 2 DIS3L2 129563 ENSG00000144535 Perlman syndrome, 267000 (3), Autosomal recessive Dis3l2 (MGI:2442555)
chr2 232378533 232382888 2q37 2q37.1 171800 ALPP Alkaline phosphatase, placental (Regan isozyme) ALPP 250 ENSG00000163283 Alpi (MGI:1924018)
chr2 232406841 232410713 2q37 2q37.1 171810 ALPPL2 Alkaline phosphatase, placental-like 2 ALPPL2 251 ENSG00000163286 Alppl2 (MGI:108009)
chr2 232456111 232460744 2q37.1 2q37.1 171740 ALPI Alkaline phosphatase, intestinal ALPI 248 ENSG00000163295 close to ALPP; proximal to PAX3 Akp3 (MGI:87984)
chr2 232479826 232487858 2q36-q37 2q37.1 605896 ECEL1, XCE, DA5D Endothelin-converting enzyme-like 1 ECEL1 9427 ENSG00000171551 Arthrogryposis, distal, type 5D, 615065 (3), Autosomal recessive Ecel1 (MGI:1343461)
chr2 232520462 232525715 2q37.1 2q37.1 613858 PRSS56, MCOP6 Protease, serine, 56 PRSS56 646960 ENSG00000237412 Microphthalmia, isolated 6, 613517 (3), Autosomal recessive Prss56 (MGI:1916703)
chr2 232526159 232537906 2q33-q34 2q37.1 100720 CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C Cholinergic receptor, nicotinic, delta polypeptide CHRND 1144 ENSG00000135902 mutation identified in 1 CMS3A patient and 1 CMS3C family Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3), Autosomal dominant; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3), Autosomal recessive Chrnd (MGI:87893)
chr2 232539726 232546327 2q33-q34 2q37.1 100730 CHRNG, ACHRG Cholinergic receptor, nicotinic, gamma polypeptide CHRNG 1146 ENSG00000196811 tightly linked to CHRND by RE Escobar syndrome, 265000 (3), Autosomal recessive; Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive Chrng (MGI:87895)
chr2 232547969 232550589 2q37.1 2q37.1 612972 TIGD1 TIGGER transposable element-derived gene 1 TIGD1 200765 ENSG00000221944
chr2 232550586 232583644 2q37.1 2q37.1 605895 EIF4E2, EIF4EL3, 4EHP Eukaryotic translation initiation factor 4E family, member 2 EIF4E2 9470 ENSG00000135930 Eif4e2 (MGI:1914440)
chr2 232606056 232682780 2q37.1 2q37.1 611617 EFHD1 EF-hand domain family, member D1 EFHD1 80303 ENSG00000115468 Efhd1 (MGI:1921607)
chr2 232697304 232860576 2q37.1 2q37.1 612003 GIGYF2, KIAA0642, PARK11 GRB10-interacting GYF protein 2 GIGYF2 26058 ENSG00000204120 {Parkinson disease 11}, 607688 (3) Gigyf2 (MGI:2138584)
chr2 232765801 232776564 2q37 2q37.1 603208 KCNJ13, SVD, LCA16 Potassium inwardly-rectifying channel, subfamily J, member 13 KCNJ13 3769 ENSG00000115474 Leber congenital amaurosis 16, 614186 (3), Autosomal recessive; Snowflake vitreoretinal degeneration, 193230 (3), Autosomal dominant Kcnj13 (MGI:3781032)
chr2 232878685 233013240 2q37 2q37.1 605991 NGEF Neuronal guanine nucleotide exchange factor NGEF 25791 ENSG00000066248 Ngef (MGI:1858414)
chr2 233032671 233035056 2q37 2q37.1 605528 NEU2, SIAL2 Neuraminidase 2 NEU2 4759 ENSG00000115488 Neu2 (MGI:1344417)
chr2 233059966 233207902 2q36-q37 2q37.1 601582 INPP5D, SHIP Inositol polyphosphate-5-phosphatase, 145kD INPP5D 3635 ENSG00000168918 Inpp5d (MGI:107357)
chr2 233251570 233295673 2q37.1 2q37.1 610767 ATG16L1, APG16L, IBD10 Autophagy 16-like 1 ATG16L1 55054 ENSG00000085978 {Inflammatory bowel disease (Crohn disease) 10}, 611081 (3) Atg16l1 (MGI:1924290)
chr2 233275725 233276002 2q37.1 2q37.1 615640 SCARNA5 Small Cajal body-specific RNA 5 SCARNA5 677775 within intron 9 of ATG16L1
chr2 233288675 233288940 2q37.1 2q37.1 615641 SCARNA6 Small Cajal body-specific RNA 6 SCARNA6 677772 within intron 12 of ATG16L1
chr2 233307662 233347065 2q37.1 2q37.1 181031 SAG, RP47 S-antigen; retina and pineal gland (arrestin) SAG 6295 ENSG00000130561 Oguchi disease-1, 258100 (3), Autosomal recessive; Retinitis pigmentosa 47, 613758 (3) Sag (MGI:98227)
chr2 233354506 233472097 2q37.1 2q37.1 601826 DGKD Diacylglycerol kinase, delta, 130kD DGKD 8527 ENSG00000077044 Dgkd (MGI:2138334)
chr2 233475518 233566788 2q37.1 2q37.1 610570 USP40 Ubiquitin-specific protease 40 USP40 55230 ENSG00000085982 Usp40 (MGI:2443184)
chr2 233617644 233773298 2q37 2q37.1 606433 UGT1A8 UDP-glycosyltransferase 1 family, polypeptide A8 UGT1A8 54576 ENSG00000242366 Ugt1a9,Ugt1a10 (MGI:3576092,MGI:3580642)
chr2 233636476 233773304 2q37 2q37.1 606435 UGT1A10 UDP-glycosyltransferase 1 family, polypeptide A10 UGT1A10 54575 ENSG00000242515 Ugt1a9,Ugt1a10 (MGI:3576092,MGI:3580642)
chr2 233671897 233773304 2q37 2q37.1 606434 UGT1A9 UDP-glycosyltransferase 1 family, polypeptide A9 UGT1A9 54600 ENSG00000241119 Ugt1a9,Ugt1a10 (MGI:3576092,MGI:3580642)
chr2 233681937 233773298 2q37 2q37.1 606432 UGT1A7 UDP-glycosyltransferase 1 family, polypeptide A7 UGT1A7 54577 ENSG00000244122 Ugt1a9,Ugt1a10 (MGI:3576092,MGI:3580642)
chr2 233691674 233773304 2q37 2q37.1 606431 UGT1A6 UDP-glycosyltransferase 1 family, polypeptide A6 UGT1A6 54578 ENSG00000167165 Ugt1a6b,Ugt1a6a (MGI:3580629,MGI:2137698)
chr2 233712991 233773298 2q37 2q37.1 606430 UGT1A5 UDP-glycosyltransferase 1 family, polypeptide A5 UGT1A5 54579 ENSG00000240224
chr2 233718791 233773298 2q37 2q37.1 606429 UGT1A4, UGT1D UDP-glycosyltransferase 1 family, polypeptide A4 UGT1A4 54657 ENSG00000244474 Ugt1a5 (MGI:3032634)
chr2 233729126 233773298 2q37 2q37.1 606428 UGT1A3, UGT1C UDP-glycosyltransferase 1 family, polypeptide A3 UGT1A3 54659 ENSG00000243135 Ugt1a2 (MGI:3576049)
chr2 233760272 233773298 2q37 2q37.1 191740 UGT1A1, UGT1, GNT1, BILIQTL1 UDP glycosyltransferase 1 family, polypeptide A1 UGT1A1 54658 ENSG00000241635 [Bilirubin, serum level of, QTL1], 601816 (3); Crigler-Najjar syndrome, type I, 218800 (3), Autosomal recessive; Crigler-Najjar syndrome, type II, 606785 (3), Autosomal recessive; [Gilbert syndrome], 143500 (3), Autosomal recessive; Hyperbilirubinemia, familial transient neonatal, 237900 (3), Autosomal recessive Ugt1a1 (MGI:98898)
chr2 233836700 233854565 2q37.1 2q37.1 612667 HJURP Holliday junction recognition protein HJURP 55355 ENSG00000123485 Hjurp (MGI:2685821)
chr2 233917341 234019521 2q37 2q37.1 606678 TRPM8, TRPP8 Transient receptor potential cation channel, subfamily M, member 8 TRPM8 79054 ENSG00000144481 Trpm8 (MGI:2181435)
chr2 234050666 234077133 2q37-qter 2q37.1 602637 SPP2 Secreted phosphoprotein-2, 24kD SPP2 6694 ENSG00000072080 Spp2 (MGI:1922646)
chr2 234493040 234497052 2q37.1 2q37.1 604787 ARL4C, ARL7 ADP-ribosylation factor-like 4C ARL4C 10123 ENSG00000188042 Arl4c (MGI:2445172)
chr2 234951983 235055713 2q37.1-q37.2 2q37.2 605611 SH3BP4, BOG25 SH3 domain-binding protein 4 SH3BP4 23677 ENSG00000130147 Sh3bp4 (MGI:2138297)
chr2 236165235 236168008 2q36-q37 2q37.2 601135 GBX2 Gastrulation brain homeobox 2 GBX2 2637 ENSG00000168505 Gbx2 (MGI:95668)
chr2 236537130 236582357 2q37 2q37.3 610376 ACKR3, CXCR7, CMKOR1, GPR159, RDC1 Atypical chemokine receptor 3 ACKR3 57007 ENSG00000144476 Ackr3 (MGI:109562)
chr2 237085440 237098845 2q37.3 2q37.3 616011 COPS8, CSN8 COP9 signalosome, subunit 8 COPS8 10920 ENSG00000198612 Cops8 (MGI:1915363)
chr2 237324011 237434821 2q37 2q37.3 120250 COL6A3, DYT27, BTHLM1, UCMD1 Collagen VI, alpha-3 polypeptide COL6A3 1293 ENSG00000163359 close to CRBP1 Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant; Dystonia 27, 616411 (3), Autosomal recessive; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant Col6a3 (MGI:88461)
chr2 237486409 237555317 2q37 2q37.3 606526 MLPH Melanophilin MLPH 79083 ENSG00000115648 Griscelli syndrome, type 3, 609227 (3), Autosomal recessive Mlph (MGI:2176380)
chr2 237566573 237567174 2q37.3 2q37.3 602663 PRLH, PRRP Prolactin-releasing hormone PRLH 51052 ENSG00000071677 Prlh (MGI:3644668)
chr2 237574321 237591125 2q37.3 2q37.3 602206 RAB17 Ras-associated protein RAB17 64284 ENSG00000124839 Rab17 (MGI:104640)
chr2 237627575 237781646 2q37.3 2q37.3 603256 LRRFIP1, GCF2, TRIP, FLAP1 Leucine-rich repeat in FLII-interacting protein 1 LRRFIP1 9208 ENSG00000124831 Lrrfip1 (MGI:1342770)
chr2 237858554 237912116 2q36-q37.1 2q37.3 605153 RAMP1 Receptor activity-modifying protein 1 RAMP1 10267 ENSG00000132329 Ramp1 (MGI:1858418)
chr2 237966944 238042781 2q37.3 2q37.3 617700 UBE2F, NCE2 Ubiquitin-conjugating enzyme E2F UBE2F 140739 ENSG00000184182 Ube2f (MGI:1915171)
chr2 238060923 238099412 2q37.3 2q37.3 611056 SCLY, SCL Selenocysteine lyase SCLY 51540 ENSG00000132330 Scly (MGI:1355310)
chr2 238159007 238168889 2q37.3 2q37.3 615099 ERFE, FAM132B, CTRP15 Erythroferrone ERFE 151176 ENSG00000178752 Erfe (MGI:3606476)
chr2 238238266 238240123 2q37.3 2q37.3 610331 HES6 Hairy/enhancer of split, Drosophila, homolog of, 6 HES6 55502 ENSG00000144485 Hes6 (MGI:1859852)
chr2 238244037 238290101 2q37.3 2q37.3 603426 PER2, FASPS1, KIAA0347 Period, Drosophila, homolog of, 2 PER2 8864 ENSG00000132326 Advanced sleep phase syndrome, familial, 1, 604348 (3), Autosomal dominant Per2 (MGI:1195265)
chr2 238320488 238400899 2q37.3 2q37.3 607380 TRAF3IP1, MIPT3, SLSN9 TNF receptor-associated factor 3-interacting protein 1 TRAF3IP1 26146 ENSG00000204104 Senior-Loken syndrome 9, 616629 (3), Autosomal recessive Traf3ip1 (MGI:1921269)
chr2 238426927 238452249 2q37 2q37.3 605758 ASB1 Ankyrin repeat-containing SOCS box protein 1 ASB1 51665 ENSG00000065802 Asb1 (MGI:1929735)
chr2 238848031 238910547 2q37.3 2q37.3 607556 TWIST2, DERMO1, SETLSS, FFDD3, BBRSAY, AMS Twist, Drosophila, homolog of, 2 (dermis-expressed protein 1, mouse, homolog of) TWIST2 117581 ENSG00000233608 Ablepharon-macrostomia syndrome, 200110 (3), Autosomal dominant; Barber-Say syndrome, 209885 (3), Autosomal dominant; Focal facial dermal dysplasia 3, Setleis type, 227260 (3), Autosomal recessive Twist2 (MGI:104685)
chr2 239048167 239401646 2q37.2 2q37.3 605314 HDAC4, HDACA Histone deacetylase 4 HDAC4 9759 ENSG00000068024 Hdac4 (MGI:3036234)
chr2 239892449 240025401 2q37.3 2q37.3 603835 NDUFA10 NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 10 NDUFA10 4705 ENSG00000130414 Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial Ndufa10 (MGI:1914523)
chr2 240138941 240141372 2q37.3 2q37.3 607877 OTOSP Otospiralin OTOS 150677 ENSG00000178602 Otos (MGI:2672814)
chr2 240435697 240468077 2q35-q37 2q37.3 600395 GPC1 Glypican 1 GPC1 2817 ENSG00000063660 Gpc1 (MGI:1194891)
chr2 240456000 240456088 2q37.3 2q37.3 615209 MIR149 Micro RNA 149 MIR149 406941
chr2 240568525 240578731 2q37.3 2q37.3 605287 RNPEPL1 Arginyl aminopeptidase-like 1 (aminopeptidase B-like) RNPEPL1 57140 ENSG00000142327 Rnpepl1 (MGI:1914170)
chr2 240586715 240599108 2q37.3 2q37.3 605286 CAPN10, NIDDM1 Calpain-10 CAPN10 11132 ENSG00000142330 {Diabetes mellitus, noninsulin-dependent 1}, 601283 (3) Capn10 (MGI:1344392)
chr2 240605407 240631258 2q37.3 2q37.3 602646 GPR35 G protein-coupled receptor-35 GPR35 2859 ENSG00000178623 Gpr35 (MGI:1929509)
chr2 240691844 240698482 2q34-q37 2q37.3 609789 AQP12A, AQPX2, AQP12 Aquaporin 12A AQP12A 375318 ENSG00000184945 Aqp12 (MGI:2664636)
chr2 240713763 240820307 2q37 2q37.3 601255 KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9 Kinesin family member 1A KIF1A 547 ENSG00000130294 incorrectly assigned to chr.9 Mental retardation, autosomal dominant 9, 614255 (3), Autosomal dominant; Neuropathy, hereditary sensory, type IIC, 614213 (3), Autosomal recessive; Spastic paraplegia 30, autosomal recessive, 610357 (3), Autosomal recessive Kif1a (MGI:108391)
chr2 240868744 240879118 2q36-q37 2q37.3 604285 AGXT, SPAT Alanine-glyoxylate aminotransferase, liver-specific peroxisomal AGXT 189 ENSG00000172482 Hyperoxaluria, primary, type 1, 259900 (3), Autosomal recessive Agxt (MGI:1329033)
chr2 240997409 241095567 2q37.3 2q37.3 616634 SNED1, SNEP SUSHI, NIDOGEN, and EGF-like domains protein 1 SNED1 25992 ENSG00000162804 Sned1 (MGI:3045960)
chr2 241074393 241102331 2q37.3 2q37.3 615393 MTERF4, MTERFD2 Mitochondrial transcription termination factor 4 MTERF4 130916 ENSG00000122085 Mterf4 (MGI:1918355)
chr2 241106098 241150263 2q37.3 2q37.3 607505 PASK, KIAA0135 Pas domain-containing serine-threonine kinase PASK 23178 ENSG00000115687 Pask (MGI:2155936)
chr2 241149572 241183649 2q37.3 2q37.3 602877 PPP1R7, SDS22 Protein phosphatase 1, regulatory subunit 7 PPP1R7 5510 ENSG00000115685 Ppp1r7 (MGI:1913635)
chr2 241188508 241239601 2q37.3 2q37.3 605096 TMEM16G, PCANAP5, IPCA5, DTMPP, NGEP Transmembrane protein 16G ANO7 50636 ENSG00000146205 Ano7 (MGI:3052714)
chr2 241227263 241315841 2q37 2q37.3 142695 HDLBP, VGL High-density lipoprotein-binding protein HDLBP 3069 ENSG00000115677 Hdlbp (MGI:99256)
chr2 241315186 241354026 2q37 2q37.3 601506 SEPT2, NEDD5, DIFF6 Septin 2 SEPT2 4735 ENSG00000168385 Sept2 (MGI:97298)
chr2 241356248 241494841 2q37.3 2q37.3 617586 FARP2, FRG, FIR FERM, ARHGEF, and pleckstrin domain-containing protein 2 FARP2 9855 ENSG00000006607 Farp2 (MGI:2385126)
chr2 241494706 241509729 2q37.3 2q37.3 602255 STK25, SOK1, YSK1 Serine/threonine protein kinase 25 STK25 10494 ENSG00000115694 Stk25 (MGI:1891699)
chr2 241558730 241574137 2q37.3 2q37.3 605404 BOK, BCL2L9 BCL2-related ovarian killer BOK 666 ENSG00000176720 Bok (MGI:1858494)
chr2 241584404 241637542 2q37.3 2q37.3 612533 THAP4 THAP domain-containing protein 4 THAP4 51078 ENSG00000176946 Thap4 (MGI:1914276)
chr2 241637611 241673856 2q37.3 2q37.3 611338 ATG4B, APG4B, KIAA0943 Autophagy 4, S. cerevisiae, homolog of, B ATG4B 23192 ENSG00000168397 Atg4b (MGI:1913865)
chr2 241675741 241686967 2q37.3 2q37.3 188345 DTYMK, TYMK, CDC8 Deoxythymidylate kinase DTYMK 1841 ENSG00000168393 Dtymk (MGI:108396)
chr2 241687011 241729480 2q37.3 2q37.3 608525 ING5 Inhibitor of growth-5 ING5 84289 ENSG00000168395 Ing5 (MGI:1922816)
chr2 241734578 241768815 2q37.3 2q37.3 609186 D2HGDH, D2HGD D-2-hydroxyglutarate dehydrogenase D2HGDH 728294 ENSG00000180902 D-2-hydroxyglutaric aciduria, 600721 (3), Autosomal recessive D2hgdh (MGI:2138209)
chr2 241776824 241804286 2q37.3 2q37.3 608237 GAL3ST2, GP3ST Galactose-3-O-sulfotransferase 2 GAL3ST2 64090 ENSG00000154252 Gal3st2,Gal3st2c,Gal3st2b (MGI:2685834,MGI:3646771,MGI:3711964)
chr2 241809064 241817412 2q37.3 2q37.3 608527 NEU4 Neuraminidase 4 NEU4 129807 ENSG00000204099 Neu4 (MGI:2661364)
chr2 241849880 241858907 2q37.3 2q37.3 600244 PDCD1, SLEB2 Programmed cell death 1 PDCD1 5133 ENSG00000188389 {Multiple sclerosis, disease progression, modifier of}, 126200 (3), Multifactorial; {Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3) Pdcd1 (MGI:104879)
chr2 0 242193529 Chr.2 601136 TSE2 Transsuppressor of expression 2 57324
chr3 0 90900000 3p 607135 CRCL Creatinine clearance QTL 261727 in African Americans Creatinine clearance QTL, 607135 (2)
chr3 0 16300000 3pter-p25 613792 DEL3pterp25, C3DELpterp25 3p- syndrome (chromosome 3pter-p25 deletion syndrome) contiguous gene deletion syndrome 3p- syndrome, 613792 (4), Autosomal dominant
chr3 0 8100000 3p26 609299 HPC5 Prostate cancer, hereditary, 5 619402 between D3S1270 and D3S4559 {Prostate cancer, hereditary, 5}, 176807 (2), Autosomal dominant
chr3 0 8100000 3p26 608448 IBD9 Inflammatory bowel disease 9 IBD9 317669 {Inflammatory bowel disease 9}, 608448 (2)
chr3 0 26300000 3p26-p24.2 252350 MYMY1, MYMY Moyamoya disease MYMY1 50960 max lod at D3S3050 Moyamoya disease, 252350 (2), Autosomal recessive
chr3 0 8100000 3p26 608982 STQTL5 Stature quantitative trait locus 5 619479 max lod between D3S1297 and D3S1304 {Stature QTL 5}, 608982 (2)
chr3 196587 409416 3p26.1 3p26.3 607416 CHL1, CALL, L1CAM2 CHL1, mouse, homolog of (L1 cell adhesion molecule 2) CHL1 10752 ENSG00000134121 Chl1 (MGI:1098266)
chr3 978020 1403609 3p26-p25 3p26.3 607220 CNTN6, NB3 Contactin 6 CNTN6 27255 ENSG00000134115 Cntn6 (MGI:1858223)
chr3 2098802 3059079 3p26-p25 3p26.3-p26.2 607280 CNTN4 Contactin 4 CNTN4 152330 ENSG00000144619 Cntn4 (MGI:1095737)
chr3 3066323 3110413 3p26-p24 3p26.2 147851 IL5RA Interleukin-5 receptor, alpha IL5RA 3568 ENSG00000091181 Il5ra (MGI:96558)
chr3 3126915 3153434 3p25.1 3p26.2 612907 TRNT1, SIFD, RPEM tRNA nucleotidyltransferase, CCA-adding, 1 TRNT1 51095 ENSG00000072756 pseudogenes on chromosomes 1 and 22 Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3), Autosomal recessive; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3), Autosomal recessive Trnt1 (MGI:1917297)
chr3 3148489 3179716 3p26.2 3p26.2 609262 CRBN, MRT2 Cereblon CRBN 51185 ENSG00000113851 between D3S3525 and D3S1560 Mental retardation, autosomal recessive 2, 607417 (3), Autosomal recessive Crbn (MGI:1913277)
chr3 4000000 16300000 3p26.1-p25.1 612976 ARHI2 Age-related hearing impairment 2 100302721 associated with rs11928865, rs779701, and rs779706 {Age-related hearing impairment 2}, 612976 (2)
chr3 4034713 4467281 3p26 3p26.1 607939 SUMF1, FGE Sulfatase-modifying factor-1 SUMF1 285362 ENSG00000144455 Multiple sulfatase deficiency, 272200 (3), Autosomal recessive Sumf1 (MGI:1889844)
chr3 4303303 4320648 3p26 3p26.1 609834 SETMAR, METNASE SET and Mariner transposase domains-containing protein SETMAR 6419 ENSG00000170364
chr3 4493347 4847839 3p26.1 3p26.1 147265 ITPR1, SCA15, SCA16, SCA29 Inositol 1,4,5-triphosphate receptor, type 1 ITPR1 3708 ENSG00000150995 Gillespie syndrome, 206700 (3), Autosomal recessive, Autosomal dominant; Spinocerebellar ataxia 15, 606658 (3), Autosomal dominant; Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3), Autosomal dominant Itpr1 (MGI:96623)
chr3 4749191 4751589 3p26.2 3p26.1 611662 EGO Eosinophil granule ontogeny EGOT 100126791
chr3 4979411 4985180 3p26 3p26.1 604256 BHLHE40, HLHB2, STRA13, DEC1 Basic helix-loop-helix family, member E40 BHLHE40 8553 ENSG00000134107 Bhlhe40 (MGI:1097714)
chr3 5122244 5180915 3p26.1 3p26.1 616596 ARL8B, GIE1 ADP-ribosylation factor-like 8B ARL8B 55207 ENSG00000134108 Arl8b (MGI:1914416)
chr3 5187673 5219964 3p26.1 3p26.1 607673 EDEM, KIAA0212 ER degradation-enhancing alpha-mannosidase-like protein EDEM1 9695 ENSG00000134109 Edem1 (MGI:2180139)
chr3 6861114 7743037 3p26.1 3p26.1 604101 GRM7, MGLUR7 Glutamate receptor, metabotropic, 7 GRM7 2917 ENSG00000196277 Grm7 (MGI:1351344)
chr3 8100000 43600000 3p25-p22 607893 OVCAS1 Ovarian cancer, susceptibility to, 1 574048 between D3S1597 and D3S3611 {Ovarian cancer, susceptibility to}, 607893 (2)
chr3 8100000 16300000 3p25 602011 ST11, PETS1 Suppression of tumorigenicity 11, pancreas ST11 8466 ?Pancreatic endocrine tumors (1)
chr3 8501806 8568124 3p26-p24 3p25.3 604859 LMCD1 LIM and cysteine-rich domains 1 LMCD1 29995 ENSG00000071282 Lmcd1 (MGI:1353635)
chr3 8619399 8745034 3p26.1-p25.3 3p25.3 617479 SSUH2, C3orf32, FLS485 Ssu2, C. elegans, homolog of SSUH2 51066 ENSG00000125046 Ssu2 (MGI:2443733)
chr3 8733799 8746764 3p25 3p25.3 601253 CAV3, LGMD1C, LQT9 Caveolin-3 CAV3 859 ENSG00000182533 within 7-10kb of OXTR Cardiomyopathy, familial hypertrophic, 192600 (3), Autosomal dominant; Creatine phosphokinase, elevated serum, 123320 (3), Autosomal dominant; Long QT syndrome 9, 611818 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, type IC, 607801 (3), Autosomal recessive, Autosomal dominant; Myopathy, distal, Tateyama type, 614321 (3), Autosomal dominant; Rippling muscle disease, 606072 (3), Autosomal dominant Cav3 (MGI:107570)
chr3 8750407 8769613 3p26.2 3p25.3 167055 OXTR Oxytocin receptor OXTR 5021 ENSG00000180914 3p25 by others; within 7-10kb of CAV3 Oxtr (MGI:109147)
chr3 8877195 8969248 3p25-p24 3p25.3 605256 RAD18 Rad18, S. cerevisiae, homolog of RAD18 56852 ENSG00000070950 Rad18 (MGI:1890476)
chr3 8980590 9363445 3p25 3p25.3 606525 SRGAP3, KIAA0411, MEGAP Slit-robo GTPase-activating protein, rho, 3 SRGAP3 9901 ENSG00000196220 Srgap3 (MGI:2152938)
chr3 9397699 9478153 3p25.3 3p25.3 615743 SETD5, KIAA1757 SET domain-containing protein 5 SETD5 55209 ENSG00000168137 Mental retardation, autosomal dominant 23, 615761 (3), Autosomal dominant Setd5 (MGI:1920145)
chr3 9498360 9553801 3p25 3p25.3 610240 LHFPL4 LHFP-like protein 4 LHFPL4 375323 ENSG00000156959 Lhfpl4 (MGI:3057108)
chr3 9649432 9702393 3p25.3 3p25.3 611089 MTMR14, C3orf29, HJUMPY Myotubularin-related protein 14 MTMR14 64419 ENSG00000163719 {Centronuclear myopathy, autosomal, modifier of}, 160150 (3), Autosomal dominant Mtmr14 (MGI:1916075)
chr3 9731728 9748014 3p26-p25 3p25.3 602410 BRPF1, BR140, IDDDFP Bromodomain- and PHD finger-containing protein 1, 140kD BRPF1 7862 ENSG00000156983 Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (3), Autosomal dominant Brpf1 (MGI:1926033)
chr3 9749943 9788245 3p26.2 3p25.3 601982 OGG1 8-hydroxyguanine DNA glycosylase OGG1 4968 ENSG00000114026 Renal cell carcinoma, clear cell, somatic, 144700 (3) Ogg1 (MGI:1097693)
chr3 9757344 9769986 3p25.3 3p25.3 604998 CAMK1, CAMKI Calcium/calmodulin-dependent protein kinase I CAMK1 8536 ENSG00000134072 Camk1 (MGI:1098535)
chr3 9779963 9793010 3p25.3 3p25.3 602945 TADA3, TADA3L, ADA3 Transcriptional adaptor 3 TADA3 10474 ENSG00000171148 Tada3 (MGI:1915724)
chr3 9792494 9807104 3p25.3 3p25.3 604226 ARPC4, ARC20 Actin-related protein 2/3 complex, subunit 4 ARPC4 10093 ENSG00000241553 Arpc4 (MGI:1915339)
chr3 9836252 9844058 3p25.3 3p25.3 617759 RPUSD3 RNA pseudouridylate synthase domain-containing protein 3 RPUSD3 285367 ENSG00000156990 Rpusd3 (MGI:2141440)
chr3 9866709 9880253 3p25 3p25.3 612120 CIDEC, FSP27, CIDE3, FPLD5 Cell death-inducing DFFA-like effector C CIDEC 63924 ENSG00000187288 1 patient identified with mutation ?Lipodystrophy, familial partial, type 5, 615238 (3), Autosomal recessive Cidec (MGI:95585)
chr3 9890586 9894348 3p25.3 3p25.3 616012 JAGN1, SCN6 Jagunal, Drosophila, homolog of, 1 JAGN1 84522 ENSG00000171135 Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3), Autosomal recessive Jagn1 (MGI:1915017)
chr3 9902086 9916401 3p25.3 3p25.3 614995 IL17RE Interleukin 17 receptor E IL17RE 132014 ENSG00000163701 Il17re (MGI:1889371)
chr3 9917073 9933626 3p25.3-p24.1 3p25.3 610925 IL17RC, IL17RL, CANDF9 Interleukin 17 receptor C IL17RC 84818 ENSG00000163702 Candidiasis, familial, 9, 616445 (3), Autosomal recessive Il17rc (MGI:2159336)
chr3 9933787 9945412 3p25.3 3p25.3 607170 CRELD1, AVSD2 Cysteine-rich protein with EGF-like domains 1 CRELD1 78987 ENSG00000163703 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3), Autosomal dominant; {Atrioventricular septal defect, susceptibility to, 2}, 606217 (3), Autosomal dominant Creld1 (MGI:2152539)
chr3 10026386 10101936 3p25.3 3p25.3 613984 FANCD2, FANCD, FACD, FAD Fanconi anemia, complementation group D2 FANCD2 2177 ENSG00000144554 Fanconi anemia, complementation group D2, 227646 (3), Autosomal recessive Fancd2 (MGI:2448480)
chr3 10115648 10127189 3p25.3 3p25.3 611183 BRK1, C3orf10, HSPC300 BRICK1, SCAR/WAVE actin-nucleating complex subunit BRK1 55845 ENSG00000254999 Brk1 (MGI:1915406)
chr3 10141634 10153669 3p26-p25 3p25.3 608537 VHL VHL gene VHL 7428 ENSG00000134086 Erythrocytosis, familial, 2, 263400 (3), Autosomal recessive; Hemangioblastoma, cerebellar, somatic (3); Pheochromocytoma, 171300 (3), Autosomal dominant; Renal cell carcinoma, somatic, 144700 (3); von Hippel-Lindau syndrome, 193300 (3), Autosomal dominant Vhl (MGI:103223)
chr3 10164878 10243742 3p25.3 3p25.3 603304 IRAK2 Interleukin 1 receptor-associated kinase 2 IRAK2 3656 ENSG00000134070 Irak2 (MGI:2429603)
chr3 10285749 10292946 3p26-p25 3p25.3 605353 GHRL Ghrelin GHRL 51738 ENSG00000157017 {Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Ghrl (MGI:1930008)
chr3 10300928 10321187 3p25-p24 3p25.3 600152 SEC13L1, D3S1231E, SEC13R SEC13, S. cerevisiae, like 1 SEC13 6396 ENSG00000157020 Sec13 (MGI:99832)
chr3 10324022 10707961 3p26-p25 3p25.3 108733 ATP2B2, PMCA2 ATPase, Ca++ transporting, plasma membrane, 2 ATP2B2 491 ENSG00000157087 {Deafness, autosomal recessive 12, modifier of}, 601386 (3), Autosomal recessive Atp2b2 (MGI:105368)
chr3 10816199 10940732 3p25.3 3p25.3 607952 SLC6A11, GAT3, GAT4 Solute carrier family 6 (neurotransmitter transporter, GABA), member 11 SLC6A11 6538 ENSG00000132164 Slc6a11 (MGI:95630)
chr3 10992733 11039248 3p25-p24 3p25.3 137165 SLC6A1, GABATR, MAE Solute carrier family 6 (neurotransmitter transporter, GABA), member 1 SLC6A1 6529 ENSG00000157103 Myoclonic-atonic epilepsy, 616421 (3), Autosomal dominant Slc6a1 (MGI:95627)
chr3 11137092 11263252 3p21-p14 3p25.3 600167 HRH1 Histamine receptor, subclass H1 HRH1 3269 ENSG00000196639 Hrh1 (MGI:107619)
chr3 11272323 11564651 3p25.3 3p25.3 608760 ATG7, APG7L, GSA7 Autophagy 7, S. cerevisiae, homolog of ATG7 10533 ENSG00000197548 Atg7 (MGI:1921494)
chr3 11600000 16300000 3p25.2-p25.1 606661 UVM2 Melanoma, uveal, susceptibility to, 2 170593 {Melanoma, uveal, susceptibility to, 2}, 606661 (2)
chr3 11721895 11846918 3p25.2 3p25.2 614948 TAMM41, RAM41, C3orf31 Translocator assembly and maintenance, mitochondrial, S. cerevisiae, homolog of TAMM41 132001 ENSG00000144559 Tamm41 (MGI:1916221)
chr3 12004359 12192031 3p25 3p25.2 600755 SYN2 Synapsin II SYN2 6854 ENSG00000157152 {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant Syn2 (MGI:103020)
chr3 12153067 12159350 3p25 3p25.2 601915 TIMP4 Tissue inhibitor of metalloproteinase 4 TIMP4 7079 ENSG00000157150 Timp4 (MGI:109125)
chr3 12287484 12471053 3p25 3p25.2 601487 PPARG, PPARG1, PPARG2, CIMT1, GLM1 Peroxisome proliferator activated receptor, gamma PPARG 5468 ENSG00000132170 PPARG1, PPARG2 from same gene Carotid intimal medial thickness 1, 609338 (3); {Diabetes, type 2}, 125853 (3), Autosomal dominant; Insulin resistance, severe, digenic, 604367 (3), Autosomal dominant; Lipodystrophy, familial partial, type 3, 604367 (3), Autosomal dominant; [Obesity, resistance to] (3); Obesity, severe, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Pparg (MGI:97747)
chr3 12484431 12539623 3p25.1 3p25.2 608753 TSEN2, SEN2, PCH2B tRNA splicing endonuclease 2, S. cerevisiae, homolog of TSEN2 80746 ENSG00000154743 Pontocerebellar hypoplasia type 2B, 612389 (3), Autosomal recessive Tsen2 (MGI:2141599)
chr3 12557013 12583712 3p25 3p25.2 608426 MKRN2 Makorin 2 MKRN2 23609 ENSG00000075975 Mkrn2 (MGI:1914277)
chr3 12583600 12664200 3p25 3p25.2 164760 RAF1, CRAF, NS5, CMD1NN Oncogene RAF1 RAF1 5894 ENSG00000132155 Cardiomyopathy, dilated, 1NN, 615916 (3), Autosomal dominant; LEOPARD syndrome 2, 611554 (3); Noonan syndrome 5, 611553 (3), Autosomal dominant Raf1 (MGI:97847)
chr3 12796653 12834817 3p25.2 3p25.2 610403 CAND2, TIP120B, KIAA0667 Cullin-associated neddylation -dissociated 2 CAND2 23066 ENSG00000144712 Cand2 (MGI:1914338)
chr3 12897042 13073409 3p25.2 3p25.2 610166 IQSEC1, KIAA0763 IQ motif- and Sec7 domain-containing protein 1 IQSEC1 9922 ENSG00000144711 Iqsec1 (MGI:1196356)
chr3 13200000 32000000 3p25.1-p23 613530 LGMD1H Muscular dystrophy, limb-girdle, type 1H LGMD1H 100529230 between D3S1263 and D3S1277 Muscular dystrophy, limb-girdle, type 1H, 613530 (2), Autosomal dominant
chr3 13316229 13420318 3p25.1 3p25.1 607703 NUP210, GP210, KIAA0906 Nucleoporin, 210kD NUP210 23225 ENSG00000132182 Nup210 (MGI:1859555)
chr3 13549124 13638421 3p25-p24 3p25.1 135821 FBLN2 Fibulin-2 FBLN2 2199 ENSG00000163520 Fbln2 (MGI:95488)
chr3 13818107 13880120 3p25 3p25.1 601570 WNT7A Wingless-type MMTV integration site family, member 7A WNT7A 7476 ENSG00000154764 Fuhrmann syndrome, 228930 (3), Autosomal recessive; Ulna and fibula, absence of, with severe limb deficiency, 276820 (3), Autosomal recessive Wnt7a (MGI:98961)
chr3 13937306 14065983 3p25.1 3p25.1 611167 TPRXL Tetrapeptide repeat homeobox-like TPRXL 348825
chr3 14112076 14124870 3p25.1 3p25.1 611077 CHDH4, MIA40 Coiled-coil-helix-coiled-coil-helix domain-containing protein 4 CHCHD4 131474 ENSG00000163528 Chchd4 (MGI:1919420)
chr3 14124939 14143679 3p25 3p25.1 612048 TMEM43, ARVD5, ARVC5, EDMD7 Transmembrane protein 43 TMEM43 79188 ENSG00000170876 Arrhythmogenic right ventricular dysplasia 5, 604400 (3), Autosomal dominant; Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3), Autosomal dominant Tmem43 (MGI:1921372)
chr3 14145144 14178671 3p25 3p25.1 613208 XPC, XPCC XPC gene XPC 7508 ENSG00000154767 Xeroderma pigmentosum, group C, 278720 (3), Autosomal recessive Xpc (MGI:103557)
chr3 14178727 14198368 3p25.1 3p25.1 607283 LSM3 LSM3 protein LSM3 27258 ENSG00000170860 Lsm3 (MGI:1914928)
chr3 14402575 14489348 3p25-q24 3p25.1 186854 SLC6A6, TAUT Solute carrier family 6 (neurotransmitter transporter, taurine), member 6 SLC6A6 6533 ENSG00000131389 Slc6a6 (MGI:98488)
chr3 14651745 14672658 3p25.1 3p25.1 616735 CCDC174, HSPC212, IHPM Coiled-coil domain-containing protein 174 CCDC174 51244 ENSG00000154781 Hypotonia, infantile, with psychomotor retardation, 616816 (3), Autosomal recessive Ccdc174 (MGI:2444652)
chr3 14818961 14934564 3p25.1 3p25.1 614788 FGD5 FYVE, RhoGEF, and PH domain-containing protein 5 FGD5 152273 ENSG00000154783 Fgd5 (MGI:2443369)
chr3 14947583 15049278 3p25 3p25.1 601426 NR2C2, TR4, TAK1 Nuclear receptor subfamily 2, group C, member 2 NR2C2 7182 ENSG00000177463 Nr2c2 (MGI:1352466)
chr3 15042250 15065336 3p25 3p25.1 611987 MRPS25 Mitochondrial ribosomal protein S25 MRPS25 64432 ENSG00000131368 Mrps25 (MGI:1928140)
chr3 15070068 15099162 3p25.1 3p25.1 609511 RBSN, ZFYVE20 Rabenosyn 5 RBSN 64145 ENSG00000131381 Rbsn (MGI:1925537)
chr3 15165361 15205958 3p24.3 3p25.1 612397 COL6A4P1, DVWA, DIVA, LOC344875 Collagen, type VI, alpha 4, pseudogene 1 COL6A4P1 344875
chr3 15206225 15252915 3p24 3p25.1 606400 CAPN7, PALBH Calpain 7 CAPN7 23473 ENSG00000131375 Capn7 (MGI:1338030)
chr3 15254352 15341393 3p25.1 3p25.1 605612 SH3BP5, SAB SH3 domain-binding protein 5 SH3BP5 9467 ENSG00000131370 previously mapped to 1q431 Sh3bp5 (MGI:1344391)
chr3 15427556 15442612 3p25.1 3p25.1 608315 EAF1 ELL-associated factor 1 EAF1 85403 ENSG00000144597 Eaf1 (MGI:1921677)
chr3 15450132 15521750 3p25 3p25.1 603033 COLQ, EAD, CMS5 Collagenic tail of endplate acetylcholinesterase COLQ 8292 ENSG00000206561 Myasthenic syndrome, congenital, 5, 603034 (3), Autosomal recessive
chr3 15560703 15601851 3p25.1 3p25.1 604300 HACL1, HPCL2 2-hydroxyacyl-CoA lyase 1 HACL1 26061 ENSG00000131373 Hacl1 (MGI:1929657)
chr3 15601351 15653710 3p25 3p25.1 609019 BTD Biotinidase BTD 686 ENSG00000169814 Biotinidase deficiency, 253260 (3), Autosomal recessive Btd (MGI:1347001)
chr3 15667235 15859812 3p25.1 3p25.1 611122 ANKRD28, PITK, KIAA0379 Ankyrin repeat domain-containing protein 28 ANKRD28 23243 ENSG00000206560 Ankrd28 (MGI:2145661)
chr3 16174321 16248223 3p25.1 3p25.1 615131 GALNT15, GALNACT15 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 GALNT15 117248 ENSG00000131386 Galnt15 (MGI:1926004)
chr3 16257060 16264988 3p24.3 3p25.1 608959 DPH3, KTI11, ZCSL2, DELGIP1 DPH3, S. cerevisiae, homolog of DPH3 285381 ENSG00000154813 Dph3 (MGI:1922658)
chr3 16300000 54400000 3p24-p21 609954 ASPG4 Asperger syndrome, susceptibility to, 4 100188800 max lod at D3S2432 {Asperger syndrome susceptibility 4}, 609954 (2)
chr3 16300000 30800000 3p24 613519 ATOD9 Dermatitis, atopic, 9 105463126 max lod at D3S1768 {Dermatitis, atopic, susceptibility to, 9}, 613519 (2)
chr3 16300000 43600000 3p24-p22 608088 HSN1B Hereditary sensory neuropathy, type IB 378888 max lod at D3S2338 Neuropathy, hereditary sensory, type IB, 608088 (2), Autosomal dominant
chr3 16300000 23800000 3p24.3 612401 OS6 Osteoarthritis susceptibility 6 100286836 associated with rs11718863 and rs7639618 {Osteoarthritis susceptibility 6}, 612401 (2)
chr3 16300000 52300000 3p24-p21.2 609649 TRICY1 Trichilemmal cyst 1 TRICY1 94014 max lod at D3S1277 Trichilemmal cyst 1, 609649 (2), Autosomal dominant
chr3 16586791 16605498 3p24 3p24.3 601486 DAZL, DAZH, SPGYLA Deleted in azoospermia-like DAZL 1618 ENSG00000092345 ?founding member of DAZ gene family {Spermatogenic failure, susceptibility to} (3)
chr3 16802690 17090605 3p25-p24 3p24.3 614276 PLCL2, KIAA1092 Phospholipase C-like 2 PLCL2 23228 ENSG00000154822 Plcl2 (MGI:1352756)
chr3 17157161 17742738 3p24.3 3p24.3 615740 TBC1D5, KIAA0210 TBC1 domain family, member 5 TBC1D5 9779 ENSG00000131374 Tbc1d5 (MGI:1919488)
chr3 18345387 18445587 3p23 3p24.3 602075 SATB1 Special AT-rich sequence binding protein-1 SATB1 6304 ENSG00000182568 Satb1 (MGI:105084)
chr3 19947079 19985174 3p24-p22 3p24.3 179512 RAB5A, RAB5 RAS-associated protein RAB5A RAB5A 5868 ENSG00000144566 Rab5a (MGI:105926)
chr3 20040031 20154403 3p24 3p24.3 602303 CAF CREBBP-associated factor KAT2B 8850 ENSG00000114166 Kat2b (MGI:1343094)
chr3 20160592 20188142 3p24.3 3p24.3 609168 SGOL1, SGO, SGO1, CAID Shugoshin-like 1 SGO1 151648 ENSG00000129810 Chronic atrial and intestinal dysrhythmia, 616201 (3), Autosomal recessive Sgo1 (MGI:1919665)
chr3 23203006 23590804 3p24.2 3p24.3 602163 UBE2E2 Ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5) UBE2E2 7325 ENSG00000182247 Ube2e2 (MGI:2384997)
chr3 23800000 32000000 3p24.2-p23 611634 FEB9 Febrile seizures, familial, 9 100188849 between D3S3727 and D3S3567 Febrile seizures, familial, 9, 611634 (2), Autosomal dominant
chr3 23805892 23891639 3p24.3-p24.2 3p24.2 602916 UBE2E1, UBCH6 Ubiquitin-conjugating enzyme E2E 1 UBE2E1 7324 ENSG00000170142 Ube2e1 (MGI:107411)
chr3 23916544 23924630 3p24.2 3p24.2 604174 RPL15, DBA12 Ribosomal protein L15 RPL15 6138 ENSG00000174748 mutation identified in 1 family ?Diamond-Blackfan anemia 12, 615550 (3), Autosomal dominant Rpl15 (MGI:1913730)
chr3 23945259 23980617 3p24.3 3p24.2 602304 NR1D2, RVR, BD73 Nuclear receptor subfamily 1, group D, member 2 NR1D2 9975 ENSG00000174738 Nr1d2 (MGI:2449205)
chr3 24117152 24495280 3p24.3 3p24.2 190160 THRB, ERBA2, THR1, PRTH Thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog-2) THRB 7068 ENSG00000151090 Thyroid hormone resistance, 188570 (3), Autosomal dominant; Thyroid hormone resistance, autosomal recessive, 274300 (3), Autosomal recessive; Thyroid hormone resistance, selective pituitary, 145650 (3), Autosomal dominant Thrb (MGI:98743)
chr3 24829322 25597931 3p24 3p24.2 180220 RARB, HAP, MCOPS12 Retinoic acid receptor, beta polypeptide RARB 5915 ENSG00000077092 = HAP = HBV-activated protein Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive, Autosomal dominant Rarb (MGI:97857)
chr3 25597904 25664890 3p24 3p24.2 126431 TOP2B Topoisomerase (DNA) II, beta, 180kD TOP2B 7155 ENSG00000077097 Top2b (MGI:98791)
chr3 25718943 25790038 3p24 3p24.2 610661 NGLY1, PNG1, CDDG, CDG1V N-glycanase 1 NGLY1 55768 ENSG00000151092 Congenital disorder of deglycosylation, 615273 (3), Autosomal recessive Ngly1 (MGI:1913276)
chr3 25788282 25794533 3p24.2 3p24.2 610324 OXSM, KS 3-oxoacyl-ACP synthase, mitochondrial OXSM 54995 ENSG00000151093 Oxsm (MGI:1918397)
chr3 27372720 27484419 3p22 3p24.1 603353 SLC4A7, NBC2, NBC3 Solute carrier family 4, sodium bicarbonate cotransporter, member 7 SLC4A7 9497 ENSG00000033867 Slc4a7 (MGI:2443878)
chr3 27715948 27722714 3p21.3-p21.2 3p24.1 604615 EOMES, TBR2 Eomesodermin, Xenopus laevis, homolog of EOMES 8320 ENSG00000163508 ?translocation separating regulatory element from promoter Eomes (MGI:1201683)
chr3 28241592 28319775 3p24 3p24.1 615166 CMC1, C3orf68 Cytochrome C oxidase assembly mitochondrial protein 1, S. cerevisiae, homolog of CMC1 152100 ENSG00000187118 Cmc1 (MGI:1915149)
chr3 28322352 28349277 3p24.1 3p24.1 609916 AZI2, AZ2, NAP1, TILP 5-azacytidine-induced gene 2, mouse, homolog of AZI2 64343 ENSG00000163512 Azi2 (MGI:1351332)
chr3 29280859 30010394 3p24-p23 3p24.1 605786 RBMS3 RNA-binding motif protein, single strand-interacting, 3 RBMS3 27303 ENSG00000144642 Rbms3 (MGI:2444477)
chr3 30606471 30694141 3p24.1 3p24.1 190182 TGFBR2, HNPCC6, AAT3, MFS2, LDS2 Transforming growth factor, beta receptor II, 70-80kD TGFBR2 7048 ENSG00000163513 Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3); Esophageal cancer, somatic, 133239 (3); Loeys-Dietz syndrome 2, 610168 (3), Autosomal dominant Tgfbr2 (MGI:98729)
chr3 30726008 30894660 3p24.1 3p24-p23 615601 GADL1 Glutamate decarboxylase-like 1 GADL1 339896 ENSG00000144644 Gadl1 (MGI:1920998)
chr3 30800000 54400000 3p23-p21 182280 SCLC1 Small-cell cancer of lung 7864 centromeric to ERBA2 Small-cell cancer of lung, 182280 (2), Autosomal dominant
chr3 31532500 31637621 3p23 3p23 608605 STT3B, SIMP, CDG1X STT3B, subunit of the oligosaccharyltransferase complex (catalytic) STT3B 201595 ENSG00000163527 mutation identified in 1 family ?Congenital disorder of glycosylation, type Ix, 615597 (3), Autosomal recessive Stt3b (MGI:1915542)
chr3 31660824 31981849 3p25.3-p22 3p23 606738 OSBPL10, ORP10 Oxysterol-binding protein-like protein 10 OSBPL10 114884 ENSG00000144645 Osbpl10 (MGI:1921736)
chr3 32000000 43600000 3p22 614836 HHV8S Human herpesvirus 8, susceptibility to 101056702 {Human herpesvirus 8, susceptibility to}, 614836 (2)
chr3 32106510 32168714 3p22.3 3p22.3 611778 GPD1L, KIAA0089 Glycerol-3-phosphate dehydrogenase 1-like GPD1L 23171 ENSG00000152642 Brugada syndrome 2, 611777 (3) Gpd1l (MGI:1289257)
chr3 32238678 32370324 3p22.3 3p22.3 607891 CMTM8, CKLFSF8 CKLF-like marvel transmembrane domain-containing 8 CMTM8 152189 ENSG00000170293 Cmtm8 (MGI:2447167)
chr3 32391670 32455527 3p22.3 3p22.3 607890 CMTM7, CKLFSF7 CKLF-like marvel transmembrane domain-containing 7 CMTM7 112616 ENSG00000153551 Cmtm7 (MGI:2447166)
chr3 32481311 32502910 3p22.3 3p22.3 607889 CMTM6, CKLFSF6 CKLF-like marvel transmembrane domain-containing 6 CMTM6 54918 ENSG00000091317 Cmtm6 (MGI:2447165)
chr3 32525970 32570923 3p22.3 3p22.3 615890 DYNC1LI1, LIC1 Dynein, cytoplasmic 1, light intermediate chain 1 DYNC1LI1 51143 ENSG00000144635 Dync1li1 (MGI:2135610)
chr3 32951554 32955311 3p24 3p22.3 604836 CCR4, CKR4, CMKBR4 Chemokine (C-C) receptor-4 CCR4 1233 ENSG00000183813 Ccr4 (MGI:107824)
chr3 32996607 33097229 3p21.33 3p22.3 611458 GLB1, MPS4B Galactosidase, beta-1 GLB1 2720 ENSG00000170266 3p14.2-p11 excluded GM1-gangliosidosis, type I, 230500 (3), Autosomal recessive; GM1-gangliosidosis, type II, 230600 (3), Autosomal recessive; GM1-gangliosidosis, type III, 230650 (3), Autosomal recessive; Mucopolysaccharidosis type IVB (Morquio), 253010 (3), Autosomal recessive Glb1 (MGI:88151)
chr3 33113957 33147772 3p22 3p22.3 605497 CRTAP, CASP, OI7 Cartilage-associated protein CRTAP 10491 ENSG00000170275 Osteogenesis imperfecta, type VII, 610682 (3), Autosomal recessive Crtap (MGI:1891221)
chr3 33277024 33422697 3p22.3 3p22.3 605652 FBXL2, FBL2 F-box and leucine-rich repeat protein 2 FBXL2 25827 ENSG00000153558 Fbxl2 (MGI:1919429)
chr3 33388335 33440404 3p23 3p22.3 609784 UBP1, LBP1A, LBP1B Upstream binding protein 1 UBP1 7342 ENSG00000153560 Ubp1 (MGI:104889)
chr3 33496244 33718355 3p22.3 3p22.3 605853 CLASP2 CLIP-associated protein 2 CLASP2 23122 ENSG00000163539 Clasp2 (MGI:1923749)
chr3 33798570 33869706 3p22.3 3p22.3 608074 PDCD6IP, AIP1, ALIX, KIAA1375 Programmed cell death 6-interacting protein PDCD6IP 10015 ENSG00000170248 Pdcd6ip (MGI:1333753)
chr3 35744475 35744558 3p22 3p22.3 611769 MIR128-2, MIR128B, MIRN128-2 Micro RNA 128-2 MIR128-2 406916
chr3 36380342 36548006 3p24-p22 3p22.3-p22.2 602317 STAC SRC homology three (SH3) and cysteine-rich domain STAC 6769 ENSG00000144681 Stac (MGI:1201400)
chr3 36400000 39300000 3p22.2 615612 DDH2 Developmental dysplasia of the hip 2 102775567 between rs4481097 and rs4626072 Developmental dysplasia of the hip 2, 615612 (2), Autosomal dominant
chr3 36712421 36764205 3p22.3 3p22.2 613167 DCLK3, DCK3, CLR Doublecortin-like kinase 3 DCLK3 85443 ENSG00000163673 Dclk3 (MGI:3039580)
chr3 36985865 36993303 3p22.1 3p22.2 607911 EPM2AIP1, KIAA0766 EPM2A-interacting protein 1 EPM2AIP1 9852 ENSG00000178567 Epm2aip1 (MGI:1925031)
chr3 36993349 37050845 3p21.3 3p22.2 120436 MLH1, COCA2, HNPCC2 mutL, E. coli, homolog of, 1 MLH1 4292 ENSG00000076242 Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3); Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; Muir-Torre syndrome, 158320 (3), Autosomal dominant Mlh1 (MGI:101938)
chr3 37052625 37176816 3p22.2 3p22.2 614043 LRRFIP2 Leucine-rich repeat in FLII-interacting protein 2 LRRFIP2 9209 ENSG00000093167
chr3 37243190 37366878 3p22-p21.3 3p22.2 602509 GOLGA4 Golgi autoantigen, golgin subfamily a, 4 GOLGA4 2803 ENSG00000144674 Golga4 (MGI:1859646)
chr3 37452321 37819789 3p21.3 3p22.2 603963 ITGA9 Integrin, alpha-9 ITGA9 3680 ENSG00000144668 Itga9 (MGI:104756)
chr3 37969403 37969479 3p22.2 3p22.2 612151 MIR26A, MIRN26A1 Micro RNA 26A1 MIR26A1 407015
chr3 38007495 38029662 3p22-p21.3 3p22.2 602142 PLCD1, NDNC3 Phospholipase C, delta-1 PLCD1 5333 ENSG00000187091 Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3), Autosomal recessive, Autosomal dominant Plcd1 (MGI:97614)
chr3 38038594 38122740 3p22-p21.3 3p22.2 604050 DLEC1, DLC1 Deleted in lung and esophageal cancer 1 DLEC1 9940 ENSG00000008226 Esophageal cancer, 133239 (1), Autosomal dominant; Lung cancer, 211980 (1), Autosomal recessive Dlec1 (MGI:2443671)
chr3 38122709 38137241 3p23-p22 3p22.2 604054 ACAA1 Acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) ACAA1 30 ENSG00000060971 Acaa1a (MGI:2148491)
chr3 38137438 38143021 3p22-p21.3 3p22.2 602170 MYD88, MYD88D Myeloid differentiation primary response gene 88 MYD88 4615 ENSG00000172936 Macroglobulinemia, Waldenstrom, somatic, 153600 (3); Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3) Myd88 (MGI:108005)
chr3 38165050 38255487 3p22-p21.3 3p22.2 604046 OSR1 Oxidative stress-responsive 1 OXSR1 9943 ENSG00000172939 Oxsr1 (MGI:1917378)
chr3 38346759 38453040 3p22-p21.3 3p22.2 604049 XYLB Xylulokinase, H. influenzae, homolog of XYLB 9942 ENSG00000093217 Xylb (MGI:2142985)
chr3 38454298 38493141 3p22-p21.3 3p22.2 602730 ACVR2B, ACTRIIB, HTX4 Activin A receptor, type IIB ACVR2B 93 ENSG00000114739 Heterotaxy, visceral, 4, autosomal, 613751 (3) Acvr2b (MGI:87912)
chr3 38496126 38526304 3p22-p21.3 3p22.2 604051 EXOG, ENDOGL1, ENGL Endo/exonuclease, ENDOG-like EXOG 9941 ENSG00000157036 Exog (MGI:2143333)
chr3 38548060 38649672 3p21 3p22.2 600163 SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 Sodium channel, voltage-gated, type V, alpha polypeptide SCN5A 6331 ENSG00000183873 Atrial fibrillation, familial, 10, 614022 (3), Autosomal dominant; Brugada syndrome 1, 601144 (3), Autosomal dominant; Cardiomyopathy, dilated, 1E, 601154 (3), Autosomal dominant; Heart block, nonprogressive, 113900 (3), Autosomal dominant; Heart block, progressive, type IA, 113900 (3), Autosomal dominant; Long QT syndrome-3, 603830 (3), Autosomal dominant; Sick sinus syndrome 1, 608567 (3), Autosomal recessive; {Sudden infant death syndrome, susceptibility to}, 272120 (3), Autosomal recessive; Ventricular fibrillation, familial, 1, 603829 (3) Scn5a (MGI:98251)
chr3 38697109 38794009 3p22.2 3p22.2 604427 SCN10A, FEPS2 Sodium channel, voltage-gated, type X, alpha subunit SCN10A 6336 ENSG00000185313 Episodic pain syndrome, familial, 2, 615551 (3), Autosomal dominant Scn10a (MGI:108029)
chr3 38845763 39051944 3p22.2 3p22.2 604385 SCN11A, HSAN7, FEPS3 Sodium channel, voltage-gated, type XI, alpha subunit SCN11A 11280 ENSG00000168356 Episodic pain syndrome, familial, 3, 615552 (3), Autosomal dominant; Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3), Autosomal dominant Scn11a (MGI:1345149)
chr3 39051985 39096670 3p21.33 3p22.2 612167 WDR48, KIAA1449 WD repeat-containing protein 48 WDR48 57599 ENSG00000114742 Wdr48 (MGI:1914811)
chr3 39096598 39108362 3p21.3 3p22.2 606867 GORASP1, GOLPH5, GRASP65, P65 Golgi reassembly stacking protein 1, 65kD GORASP1 64689 ENSG00000114745 Gorasp1 (MGI:1921748)
chr3 39141850 39154601 3p22 3p22.2 606458 AXUD1 Axin1 upregulated CSRNP1 64651 ENSG00000144655 Csrnp1 (MGI:2387989)
chr3 39183209 39192620 3p22.2 3p22.2 609777 CMYA1, XIN Cardiomyopathy-associated protein 1 XIRP1 165904 ENSG00000168334 Xirp1 (MGI:1333878)
chr3 39263493 39281734 3pter-p21 3p22.2 601470 CX3CR1, GPR13, V28 Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13) CX3CR1 1524 ENSG00000168329 {Coronary artery disease, resistance to}, 607339 (3); {Macular degeneration, age-related, 12}, 613784 (3); {Rapid progression to AIDS from HIV1 infection}, 609423 (3) Cx3cr1 (MGI:1333815)
chr3 39329705 39333679 3p22 3p22.1 601834 CCR8, CMKBR8, CMKBRL2, CKRL1 Chemokine (C-C) receptor 8 CCR8 1237 ENSG00000179934 Ccr8 (MGI:1201402)
chr3 39383323 39397350 3p22.1 3p22.1 610819 SLC25A38, SIDBA2 Solute carrier family 25, member 38 SLC25A38 54977 ENSG00000144659 Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3), Autosomal recessive Slc25a38 (MGI:2384782)
chr3 39406688 39412541 3p21.3 3p22.1 150370 RPSA, LAMR1, LAMBR, ICAS Ribosomal protein SA RPSA 3921 ENSG00000168028 Asplenia, isolated congenital, 271400 (3), Autosomal dominant Rpsa (MGI:105381)
chr3 39411053 39411206 3p22.1 3p22.1 180646 SNORA62, RNU108, RNE2 Small nucleolar RNA, H/ACA box, 62 SNORA62 6044
chr3 39467572 39529496 3p22-p21 3p22.1 600948 MOBP Myelin-associated oligodendrocyte basic protein MOBP 4336 ENSG00000168314 Mobp (MGI:108511)
chr3 39808913 40260320 3p21.33-p21.32 3p22.1 611790 MYRIP, SLAC2C Myosin VIIA- and RAB-interacting protein MYRIP 25924 ENSG00000170011 Myrip (MGI:2384407)
chr3 40387155 40428625 3p21.3 3p22.1 603161 ENTPD3, CD39L3 Ectonucleoside triphosphate diphosphohydrolase 3 ENTPD3 956 ENSG00000168032 Entpd3 (MGI:1321386)
chr3 40457291 40462371 3p22.1 3p22.1 617414 RPL14 Ribosomal protein L14 RPL14 9045 ENSG00000188846 Rpl14 (MGI:1914365)
chr3 41199421 41240452 3p22.1 3p22.1 116806 CTNNB1, MRD19, EVR7 Catenin (cadherin-associated protein), beta 1, 88kD CTNNB1 1499 ENSG00000168036 Colorectal cancer, somatic, 114500 (3); Exudative vitreoretinopathy 7, 617572 (3), Autosomal dominant; Hepatocellular carcinoma, somatic, 114550 (3); Medulloblastoma, somatic, 155255 (3); Mental retardation, autosomal dominant 19, 615075 (3), Autosomal dominant; Ovarian cancer, somatic, 167000 (3); Pilomatricoma, somatic, 132600 (3) Ctnnb1 (MGI:88276)
chr3 41246598 41962439 3p22.1 3p22.1 617010 ULK4, FAM7C1 Unc51-like kinase 4 ULK4 54986 ENSG00000168038 Ulk4 (MGI:1921622)
chr3 42013801 42225889 3p25.3-p24.1 3p22.1 608112 TRAK1, OIP106, KIAA1042 Trafficking protein, kinesin-binding 1 TRAK1 22906 ENSG00000182606 Trak1 (MGI:1914345)
chr3 42257823 42266194 3pter-p21 3p22.1 118440 CCK Cholecystokinin CCK 885 ENSG00000187094 Cck (MGI:88297)
chr3 42360765 42411793 3p21.33 3p22.1 612750 LYZL4 Lysozyme-like 4 LYZL4 131375 ENSG00000157093 Lyzl4 (MGI:1916282)
chr3 42489298 42537572 3p22 3p22.1 192321 VIPR1 Vasoactive intestinal peptide receptor 1 VIPR1 7433 ENSG00000114812 incorrectly assigned to 2q37 Vipr1 (MGI:109272)
chr3 42547966 42603126 3p22.1 3p22.1 604028 SEC22C Secretion deficient 22, S. cerevisiae, homolog of, C SEC22C 9117 ENSG00000093183 Sec22c (MGI:2447871)
chr3 42581839 42594997 3p21 3p22.1 606473 SS18L2 SS18-like gene 2 SS18L2 51188 ENSG00000008324 Ss18l2 (MGI:1349474)
chr3 42600006 42648740 3p22.1 3p22.1 161565 NKTR Natural tumor-killer recognition sequence NKTR 4820 ENSG00000114857 mouse gene close to Cck Nktr (MGI:97346)
chr3 42685518 42692445 3p22.1 3p22.1 615340 KLHL40, SYRP, KBTBD5, NEM8 Kelch-like 40 KLHL40 131377 ENSG00000157119 Nemaline myopathy 8, autosomal recessive, 615348 (3) Klhl40 (MGI:1919580)
chr3 42692662 42702848 3p22.1 3p22.1 608116 HHATL, MBOAT3, C3orf3, KIAA1173 Hedgehog acyltransferase-like protein HHATL 57467 ENSG00000010282 Hhatl (MGI:1922020)
chr3 42809471 42867282 3p21.3 3p22.1 602648 ACKR2, CCBP2, CMKBR9, D6, CCR9, CCR10 Atypical chemokine receptor 2 ACKR2 1238 ENSG00000144648 Ackr2 (MGI:1891697)
chr3 42872191 42876140 3p22-p21.3 3p22.1 602172 CYP8B1, CYP12 Cytochrome P450, subfamily VIIIB, polypeptide 1 CYP8B1 1582 ENSG00000180432 Cyp8b1 (MGI:1338044)
chr3 43079228 43106084 3p22.1 3p22.1 614828 POMGNT2, GTDC2, C3orf39, AGO61, MDDGA8 Protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 2 POMGNT2 84892 ENSG00000144647 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3), Autosomal recessive Pomgnt2 (MGI:2143424)
chr3 43286511 43351142 3p21 3p22.1 612760 SNRK, KIAA0096 SNF-related kinase SNRK 54861 ENSG00000163788 Snrk (MGI:108104)
chr3 43366325 43691593 3p22.1 3p22.1-p21.3 613726 ANO10, TMEM16K, SCAR10 Anoctamin 10 ANO10 55129 ENSG00000160746 Spinocerebellar ataxia, autosomal recessive 10, 613728 (3), Autosomal recessive Ano10 (MGI:2143103)
chr3 43600000 54400000 3p21 612007 CELIAC9 Celiac disease, susceptibility to, 9 100188871 associated with rs6441961 {Celiac disease, susceptibility to, 9}, 612007 (2)
chr3 43600000 54400000 3p21 606874 HSCR6 Hirschsprung disease, susceptibility to, 6 246321 {Hirschsprung disease, susceptibility to, 6}, 606874 (2)
chr3 43600000 50600000 3p21.3 612241 IBD12 Inflammatory bowel disease 12 100188952 {Inflammatory bowel disease 12}, 612241 (2)
chr3 43600000 74100000 3p21-p13 612574 MPVQTL2 Mean platelet volume quantitative trait locus 2 100271868 associated with rs12485738 [Mean platelet volume QTL2], 612574 (2)
chr3 43600000 54400000 3p21 613806 PSC Cholangitis, primary sclerosing 100653366 Cholangitis, primary sclerosing, 613806 (2)
chr3 43600000 50600000 3p21.3 601994 TRR Transfer RNA arginine 7870
chr3 43690869 43734370 3p21 3p21.33 604780 ABHD5, CGI58, IECN2, NCIE2 Abhydrolase domain containing 5 ABHD5 51099 ENSG00000011198 Chanarin-Dorfman syndrome, 275630 (3), Autosomal recessive Abhd5 (MGI:1914719)
chr3 44114211 44114309 3p21.32 3p21.32 613394 MIR138-1, MIRN138-1 Micro RNA 138-1 MIR138-1 406929
chr3 44200000 50600000 3p21.31 609815 ZD1 Zygodactyly 1 780914 max lod at D3S2409 Zygodactyly 1, 609815 (2)
chr3 44241885 44337070 3p21.33 3p21.31 614412 TOPAZ1, C3orf77 Testis- and ovary-specific PAZ domain protein 1 TOPAZ1 375337 ENSG00000173769 Topaz1 (MGI:3779933)
chr3 44648740 44660790 3p22-p21 3p21.31 194533 ZNF35, HF10 Zinc finger protein-35 (HF.10) ZNF35 7584 ENSG00000169981 Zfp105 (MGI:1277119)
chr3 44761716 44853273 3p21.31 3p21.31 617569 KIF15, KLP2, KNSL7 Kinesin family, member 15 KIF15 56992 ENSG00000163808 Kif15 (MGI:1098258)
chr3 44874605 44914600 3p22-p21.33 3p21.31 600585 TGM4 Transglutaminase-4, prostate TGM4 7047 ENSG00000163810 Tgm4 (MGI:3027002)
chr3 44915260 44976184 3p21.31 3p21.31 617150 ZDHHC3, DHHC3, GODZ Zinc finger DHHC domain-containing protein 3 ZDHHC3 51304 ENSG00000163812 Zdhhc3 (MGI:1926134)
chr3 44975290 45012667 3p21.31 3p21.31 606488 EXOSC7, RRP42 Exosome component 7 EXOSC7 23016 ENSG00000075914 Exosc7 (MGI:1913696)
chr3 45026206 45036072 3p22-p21.3 3p21.31 187520 TNA Tetranectin (plasminogen-binding protein) CLEC3B 7123 ENSG00000163815 Clec3b (MGI:104540)
chr3 45082273 45146421 3p23-p21 3p21.31 611735 CDCP1, SIMA135 CUB domain-containing protein 1 CDCP1 64866 ENSG00000163814 Cdcp1 (MGI:2442010)
chr3 45388563 45548841 3p21.3 3p21.31 604544 LARS2, PRLTS4, HLASA Leucyl-tRNA synthetase, mitochondrial LARS2 23395 ENSG00000011376 mutation identified in 1 HLASA patient ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3), Autosomal recessive; Perrault syndrome 4, 615300 (3), Autosomal recessive Lars2 (MGI:2142973)
chr3 45594104 45681262 3p21.3 3p21.31 604543 LIMD1 LIM domain-containing protein 1 LIMD1 8994 ENSG00000144791 Limd1 (MGI:1352502)
chr3 45689240 45745424 3p21.3 3p21.31 606569 SACM1L, SAC1, KIAA0851 SAC1 suppressor of actin mutations 1-like SACM1L 22908 ENSG00000211456 Sacm1l (MGI:1933169)
chr3 45755448 45796552 3p21.3 3p21.31 605616 SLC6A20, XT3 X transporter protein 3 SLC6A20 54716 ENSG00000163817 Hyperglycinuria, 138500 (3), Autosomal dominant; Iminoglycinuria, digenic, 242600 (3), Autosomal recessive, Digenic recessive Slc6a20a (MGI:2143217)
chr3 45823315 45916036 3p21.3 3p21.31 606568 LZTFL1, BBS17 Leucine zipper transcription factor-like 1 LZTFL1 54585 ENSG00000163818 Bardet-Biedl syndrome 17, 615994 (3), Autosomal recessive Lztfl1 (MGI:1934860)
chr3 45886503 45903176 3p21.3 3p21.31 604738 CCR9 Chemokine, CC motif, receptor 9 CCR9 10803 ENSG00000173585 Ccr9 (MGI:1341902)
chr3 45917898 45995823 3p21.3 3p21.31 607182 FYCO1, CATC2, CTRCT18 FYVE and coiled-coil domain containing 1 FYCO1 79443 ENSG00000163820 Cataract 18, autosomal recessive, 610019 (3), Autosomal recessive Fyco1 (MGI:107277)
chr3 45940687 45948353 3p21 3p21.31 605163 CXCR6, STRL33, BONZO Chemokine, CXC motif, receptor 6 CXCR6 10663 ENSG00000172215 Cxcr6 (MGI:1934582)
chr3 46016989 46086802 3p21.3-p21.1 3p21.31 600552 XCR1, CCXCR1, GPR5 Chemokine, C motif, receptor 1 (G protein-coupled receptor-5) XCR1 2829 ENSG00000173578 Xcr1 (MGI:1346338)
chr3 46201708 46208340 3p21 3p21.31 601159 CCR1, CMKBR1, CKR1, HM145 Chemokine (C-C) receptor 1 CCR1 1230 ENSG00000163823 Ccr1 (MGI:104618)
chr3 46210698 46266705 3p21.3 3p21.31 601268 CCR3, CKR3, CMKBR3 Chemokine (C-C) receptor 3 CCR3 1232 ENSG00000183625 Ccr3 (MGI:104616)
chr3 46353743 46360939 3p21 3p21.31 601267 CCR2, CMKBR2 Chemokine (C-C) receptor 2 CCR2 729230 ENSG00000121807 {HIV infection, susceptibility/resistance to} (3) Ccr2 (MGI:106185)
chr3 46370141 46376205 3p21 3p21.31 601373 CCR5, CMKBR5, CCCKR5, IDDM22 Chemokine (C-C) receptor 5 CCR5 1234 ENSG00000160791 {Diabetes mellitus, insulin-dependent, 22}, 612522 (3); {HIV infection, susceptibility/resistance to} (3); {Hepatitis C virus, resistance to}, 609532 (3); {West nile virus, susceptibility to}, 610379 (3) Ccr5 (MGI:107182)
chr3 46407165 46409522 3p21 3p21.31 608379 CCRL2 Chemokine, CC motif, receptor-like protein 2 CCRL2 9034 ENSG00000121797 Ccrl2 (MGI:1920904)
chr3 46436004 46485233 3p21.31 3p21.31 150210 LTF Lactotransferrin LTF 4057 ENSG00000012223 Ltf (MGI:96837)
chr3 46497994 46500948 3p21.3 3p21.31 607181 RTP3, TMEM7 Receptor-transporting protein 3 RTP3 83597 ENSG00000163825
chr3 46515384 46580098 3p21.3 3p21.31 607180 LRRC2 Leucine-rich repeat-containing 2 LRRC2 79442 ENSG00000163827 Lrrc2 (MGI:1921499)
chr3 46574554 46582462 3p23-p21 3p21.31 187395 TDGF1 Teratocarcinoma-derived growth factor-1 TDGF1 6997 ENSG00000241186 Forebrain defects (3) Tdgf1 (MGI:98658)
chr3 46668994 46693712 3p21.31 3p21.31 612402 ALS2CL ALS2 C-terminal-like protein ALS2CL 259173 ENSG00000178038 Als2cl (MGI:2447532)
chr3 46693777 46710922 3p21 3p21.31 607237 TMIE, DFNB6 Transmembrane inner ear-expressed gene TMIE 259236 ENSG00000181585 Deafness, autosomal recessive 6, 600971 (3), Autosomal recessive Tmie (MGI:2159400)
chr3 46712115 46717882 3p21.31 3p21.31 607950 PRSS50 Protease, serine, 50 PRSS50 29122 ENSG00000283706 Prss50 (MGI:2447303)
chr3 46857866 46863482 3p 3p21.31 160790 MYL3, CMH8 Myosin, light polypeptide-3, alkali; ventricular, skeletal, slow MYL3 4634 ENSG00000160808 Cardiomyopathy, hypertrophic, 8, 608751 (3), Autosomal dominant Myl3 (MGI:97268)
chr3 46877688 46903798 3p22-p21.1 3p21.31 168468 PTHR1, PTHR, PFE Parathyroid hormone receptor-1 PTH1R 5745 ENSG00000160801 Chondrodysplasia, Blomstrand type, 215045 (3), Autosomal recessive; Eiken syndrome, 600002 (3), Autosomal recessive; Failure of tooth eruption, primary, 125350 (3), Autosomal dominant; Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3), Autosomal dominant Pth1r (MGI:97801)
chr3 46979682 47009703 3p22.1-p21.1 3p21.31 614169 NBEAL2, KIAA0540, GPS, BDPLT4 Neurobeachin-like 2 NBEAL2 23218 ENSG00000160796 Gray platelet syndrome, 139090 (3), Autosomal recessive Nbeal2 (MGI:2448554)
chr3 47016407 47164036 3p21.3-p21.2 3p21.31 612778 SETD2, SET2, HYPB, HBP231, KIAA1732, LLS SET domain-containing protein 2 SETD2 29072 ENSG00000181555 Luscan-Lumish syndrome, 616831 (3), Autosomal dominant Setd2 (MGI:1918177)
chr3 47228025 47282846 3p21.31 3p21.31 607910 KIF9 Kinesin family member 9 KIF9 64147 ENSG00000088727 Kif9 (MGI:1098237)
chr3 47380981 47413440 3p21.3 3p21.31 606584 PTPN23, KIAA1471, HDPTP Protein-tyrosine phosphatase, nonreceptor-type, 23 PTPN23 25930 ENSG00000076201 Ptpn23 (MGI:2144837)
chr3 47413684 47477125 3p21.31 3p21.31 601510 SCAP SREBP cleavage-activating protein SCAP 22937 ENSG00000114650 Scap (MGI:2135958)
chr3 47495639 47513724 3p21.31 3p21.31 615020 ELP6, TMEM103, C3orf75 Elongator acetyltransferase complex, subunit 6 ELP6 54859 ENSG00000163832 Elp6 (MGI:1919349)
chr3 47585887 47781914 3p23-p21 3p21.31 601732 SMARCC1, BAF155 SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily C, member 1 SMARCC1 6599 ENSG00000173473 Smarcc1 (MGI:1203524)
chr3 47802908 47850195 3p21.31 3p21.31 616423 DHX30, DDX30, RETCOR, KIAA0890, NEDMIAL DEAH box polypeptide 30 DHX30 22907 ENSG00000132153 Neurodevelopmental disorder with severe motor impairment and absent language, 617804 (3) Dhx30 (MGI:1920081)
chr3 47850689 48089278 3p21 3p21.31 157132 MAP4 Microtubule-associated protein 4 MAP4 4134 ENSG00000047849 Map4 (MGI:97178)
chr3 48157177 48188404 3p21 3p21.31 116947 CDC25A Cell division cycle 25A CDC25A 993 ENSG00000164045 Cdc25a (MGI:103198)
chr3 48223346 48225490 3p21.3 3p21.31 600474 CAMP, FALL39 Cathelicidin antimicrobial peptide CAMP 820 ENSG00000164047 Camp (MGI:108443)
chr3 48241087 48275292 3p21 3p21.31 616702 ZNF589, SZF1 Zinc finger protein 589 ZNF589 51385 ENSG00000164048
chr3 48288401 48302903 3p21.3 3p21.31 608294 NME6 Nonmetastatic cells 6, protein expressed in NME6 10201 ENSG00000172113 Nme6 (MGI:1861676)
chr3 48372218 48394829 3p21 3p21.31 609075 FBXW12, FBW12, FBXO35, FBXO12 F-box and WD40 domain protein 12 FBXW12 285231 ENSG00000164049
chr3 48403853 48430323 3pter-p14 3p21.31 601053 SEP SEP transmembrane protein PLXNB1 5364 ENSG00000164050 Plxnb1 (MGI:2154238)
chr3 48440237 48444207 3p21.31 3p21.31 615808 TMA7, HSPC016 Translation machinery-associated 7, S. cerevisiae, homolog of TMA7 51372 ENSG00000232112 Tma7 (MGI:1913417)
chr3 48446709 48465654 3p21.3-p21.2 3p21.31 606605 ATRIP ATR-interacting protein ATRIP 84126 ENSG00000164053 Atrip (MGI:1925349)
chr3 48465951 48467644 3p21.3-p21.2 3p21.31 606609 TREX1, AGS1, CRV, HERNS 3' repair exonuclease 1 TREX1 11277 ENSG00000213689 Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3), Autosomal recessive, Autosomal dominant; Chilblain lupus, 610448 (3), Autosomal dominant; {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3), Autosomal dominant Trex1 (MGI:1328317)
chr3 48467797 48504825 3p21.3 3p21.31 607290 SHISA5, SCOTIN Shisa family, member 5 SHISA5 51246 ENSG00000164054 pseudogene on Xq13.1-q13.3 Shisa5 (MGI:1915044)
chr3 48517683 48562382 3p22-p21 3p21.31 605320 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 PFKFB4 5210 ENSG00000114268 Pfkfb4 (MGI:2687284)
chr3 48561717 48563767 3p21.3 3p21.31 605902 UCN2, SRP, UR Urocortin II UCN2 90226 ENSG00000145040 Ucn2 (MGI:2176375)
chr3 48564072 48595301 3p21.3 3p21.31 120120 COL7A1, NDNC8 Collagen VII, alpha-1 polypeptide COL7A1 1294 ENSG00000114270 EBD inversa, 226600 (3), Autosomal recessive; EBD, Bart type, 132000 (3), Autosomal dominant; EBD, localisata variant (3); Epidermolysis bullosa dystrophica, AD, 131750 (3), Autosomal dominant; Epidermolysis bullosa dystrophica, AR, 226600 (3), Autosomal recessive; Epidermolysis bullosa pruriginosa, 604129 (3), Autosomal recessive, Autosomal dominant; Epidermolysis bullosa, pretibial, 131850 (3), Autosomal recessive, Autosomal dominant; Toenail dystrophy, isolated, 607523 (3), Autosomal dominant; Transient bullous of the newborn, 131705 (3), Autosomal recessive, Autosomal dominant Col7a1 (MGI:88462)
chr3 48598998 48609664 3p21.3 3p21.31 191328 UQCRC1 Ubiquinol-cytochrome c reductase core protein I UQCRC1 7384 ENSG00000010256 close upstream of COL7A1 Uqcrc1 (MGI:107876)
chr3 48625722 48635492 3p21.3 3p21.31 610068 SLC26A6 Solute carrier family 26 (anion transporter), member 6 SLC26A6 65010 ENSG00000225697 Slc26a6 (MGI:2159728)
chr3 48636462 48662914 3p24.1-p21.2 3p21.31 604264 CELSR3, EGFL1, MEGF2 Cadherin EGF LAG seven-pass G-type receptor 3 (epidermal growth factor-like 1) CELSR3 1951 ENSG00000008300 Celsr3 (MGI:1858236)
chr3 48663813 48685940 3p21 3p21.31 606671 NCKIPSD, AF3P21, SPIN90 NCK-interacting protein with SH3 domain NCKIPSD 51517 ENSG00000213672 Nckipsd (MGI:1931834)
chr3 48688002 48717277 3p21 3p21.31 606992 IHPK2, IP6K2 Inositol hexaphosphate kinase 2 IP6K2 51447 ENSG00000068745 Ip6k2 (MGI:1923750)
chr3 48744600 48847849 3p21.3-p21.2 3p21.31 176910 PRKAR2A Protein kinase, cAMP-dependent, regulatory, type II, alpha PRKAR2A 5576 ENSG00000114302 Prkar2a (MGI:108025)
chr3 48856922 48898992 3p21.31 3p21.31 613698 SLC25A20, CACT, CAC Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (carnitine-acylcarnitine translocase) SLC25A20 788 ENSG00000178537 pseudogene on 6p12 Carnitine-acylcarnitine translocase deficiency, 212138 (3), Autosomal recessive Slc25a20 (MGI:1928738)
chr3 48918819 48985540 3p21 3p21.31 605615 ARIH2, ARI2, TRIAD1 Ariadne, Drosophila, homolog of, 2 ARIH2 10425 ENSG00000177479 Arih2 (MGI:1344361)
chr3 48989907 49007148 3p21.31 3p21.31 614584 P4HTM, PH4 Prolyl 4-hydroxylase, transmembrane P4HTM 54681 ENSG00000178467 P4htm (MGI:1921693)
chr3 49007061 49015952 3p21.31 3p21.31 606031 WDR6 WD repeat-containing protein 6 WDR6 11180 ENSG00000178252 previously assigned to 15q21 by FISH Wdr6 (MGI:1930140)
chr3 49020474 49023494 3p21.31 3p21.31 612911 NDUFAF3 NADH dehydrogenase 1 alpha subcomplex, assembly factor 3 NDUFAF3 25915 ENSG00000178057 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufaf3 (MGI:1913956)
chr3 49020617 49020708 3p21.31 3p21.31 615150 MIR191 Micro RNA 191 MIR191 406966
chr3 49024324 49029749 3p21.2 3p21.31 146691 IMPDH2, IMPD2 Inosine-5'-monophosphate dehydrogenase, type II IMPDH2 3615 ENSG00000178035 [IMPDH2 enzyme activity, variation in] (3) Impdh2,Impdh2-ps (MGI:3705743,MGI:109367)
chr3 49029706 49094372 3p21.31 3p21.31 617387 QRICH1 Glutamine-rich protein 1 QRICH1 54870 ENSG00000198218 Qrich1 (MGI:1916482)
chr3 49095931 49105128 3p21 3p21.31 603727 QARS, GLNRS, MSCCA Glutaminyl-tRNA synthetase QARS 5859 ENSG00000172053 Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3), Autosomal recessive
chr3 49108045 49120937 3p21.31 3p21.31 614471 USP19, KIAA0891 Ubiquitin-specific protease 19 USP19 10869 ENSG00000172046 Usp19 (MGI:1918722)
chr3 49121113 49133165 3p21 3p21.31 150325 LAMB2, LAMS, NPHS5 Laminin, beta-2 (laminin S) LAMB2 3913 ENSG00000172037 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3); Pierson syndrome, 609049 (3), Autosomal recessive Lamb2 (MGI:99916)
chr3 49171119 49176486 3p21.31 3p21.31 613169 KLHDC8B, CHL Kelch domain-containing protein 8B KLHDC8B 200942 ENSG00000185909 {Hodgkin lymphoma, susceptibility to}, 236000 (3), Autosomal recessive Klhdc8b (MGI:1925517)
chr3 49274119 49274185 3p21.31 3p21.31 617176 MIR4271 Micro RNA 4271 MIR4271 100422952
chr3 49277143 49340102 3p21.31 3p21.31 603486 USP4, UNP Ubiquitin-specific protease-4 USP4 7375 ENSG00000114316 Usp4 (MGI:98905)
chr3 49357170 49358599 3p21.3 3p21.31 138320 GPX1, GPXD Glutathione peroxidase-1 GPX1 2876 ENSG00000233276 ?pseudogene on 3p11-p12 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1), Autosomal recessive Gpx1 (MGI:104887)
chr3 49359135 49412096 3p21.3 3p21.31 165390 RHOA, ARHA, ARH12, RHOH12 Ras homolog gene family, member A (oncogene RHO H12) RHOA 387 ENSG00000067560 Rhoa (MGI:1096342)
chr3 49412205 49416475 3p21 3p21.31 600690 TCTA T-cell leukemia translocation altered gene TCTA 6988 ENSG00000145022 Tcta (MGI:1918829)
chr3 49416777 49422677 3p21.2-p21.1 3p21.31 238310 AMT, NKH, GCE Aminomethyltransferase (glycine cleavage system protein T) AMT 275 ENSG00000145020 Glycine encephalopathy, 605899 (3), Autosomal recessive Amt (MGI:3646700)
chr3 49422332 49429323 3p21 3p21.31 611516 NICN1 Nicolin 1 NICN1 84276 ENSG00000145029 processed pseudogene on X Nicn1 (MGI:1913507)
chr3 49468702 49535617 3p21 3p21.31 128239 DAG1, DAG, MDDGC9, MDDGA9 Dystrophin-associated glycoprotein-1 DAG1 1605 ENSG00000173402 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3), Autosomal recessive Dag1 (MGI:101864)
chr3 49554488 49671548 3p21.31 3p21.31 604020 BSN, ZNF231 Bassoon, mouse, homolog of BSN 8927 ENSG00000164061 Bsn (MGI:1277955)
chr3 49673101 49683507 3p21 3p21.31 102645 APEH, D3S48E N-acylaminoacyl-peptide hydrolase APEH 327 ENSG00000164062 Apeh (MGI:88041)
chr3 49683946 49689522 3p21 3p21.31 142408 MST1, HGFL Macrophage-stimulating-1 (hepatocyte growth factor-like) MST1 4485 ENSG00000173531 Mst1 (MGI:96080)
chr3 49688752 49721528 3p21.31 3p21.31 614472 RNF123, KPC1 Ring finger protein 123 RNF123 63891 ENSG00000164068 Rnf123 (MGI:2148796)
chr3 49716833 49719804 3p21.31 3p21.31 615691 AMIGO3, ALI3 Adhesion molecule with Ig-like domain 3 AMIGO3 386724 ENSG00000176020 Amigo3 (MGI:2444854)
chr3 49721475 49723973 3p21.31 3p21.31 615320 GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14 GDP-mannose pyrophosphorylase B GMPPB 29925 ENSG00000173540 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3), Autosomal recessive Gmppb (MGI:2660880)
chr3 49724294 49786539 3p21.31 3p21.31 606991 IHPK1, IP6K1, KIAA0263 Inositol hexaphosphate kinase 1 IP6K1 9807 ENSG00000176095 Ip6k1 (MGI:1351633)
chr3 49805204 49813957 3p21 3p21.31 191325 UBE7, UBE1L Ubiquitin-activating enzyme-7 UBA7 7318 ENSG00000182179 Uba7 (MGI:1349462)
chr3 49828594 49856583 3p21.31 3p21.31 605958 TRAIP, TRIP, RNF206, SCKL9 TRAF-interacting protein TRAIP 10293 ENSG00000183763 Seckel syndrome 9, 616777 (3), Autosomal recessive Traip (MGI:1096377)
chr3 49857980 49870221 3p21.31 3p21.31 614993 CAMKV, 1G5 CAM kinase-like vesicle-associated CAMKV 79012 ENSG00000164076 Camkv (MGI:2384296)
chr3 49886470 49903636 3p21.3 3p21.31 600168 MST1R, RON, NPCA3 Macrophage stimulating 1 receptor (c-met-related tyrosine kinase) MST1R 4486 ENSG00000164078 {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3), Autosomal dominant Mst1r (MGI:99614)
chr3 49908868 49930011 3p21.31 3p21.31 611464 MON1A, SAND1 Mon1, S. cerevisiae, homolog of, A MON1A 84315 ENSG00000164077 Mon1a (MGI:1920075)
chr3 49940040 50077251 3p21.3 3p21.31 606886 RBM6, DEF3 RNA-binding motif protein 6 RBM6 10180 ENSG00000004534 Rbm6 (MGI:1338037)
chr3 50088907 50118963 3p21.3 3p21.31 606884 RMB5, LUCA15 RNA-binding motif protein 5 RBM5 10181 ENSG00000003756 Rbm5 (MGI:1933204)
chr3 50155044 50189074 3p21.3 3p21.31 601124 SEMA3F, SEMA4 Semaphorin III/F SEMA3F 6405 ENSG00000001617 Sema3f (MGI:1096347)
chr3 50191609 50197695 3p21 3p21.31 139330 GNAT1, CSNBAD3, CSNB1G Guanine nucleotide-binding protein (G protein), alpha-transducing (transducin) activity polypeptide-1 GNAT1 2779 ENSG00000114349 Night blindness, congenital stationary, autosomal dominant 3, 610444 (3), Autosomal dominant; Night blindness, congenital stationary, type 1G, 616389 (3), Autosomal recessive Gnat1 (MGI:95778)
chr3 50205245 50221485 3p21.3 3p21.31 604437 SLC38A3, SN1, G17 Solute carrier family 38, member 3 SLC38A3 10991 ENSG00000188338 Slc38a3 (MGI:1923507)
chr3 50226687 50259353 3p21 3p21.31 139360 GNAI2, GNAI2B, GIP Guanine nucleotide-binding protein (G protein), alpha-inhibiting activity polypeptide-2 GNAI2 2771 ENSG00000114353 on 12p13-p12, GNAI2L Pituitary ACTH-secreting adenoma (3); Ventricular tachycardia, idiopathic, 192605 (3), Autosomal dominant Gnai2 (MGI:95772)
chr3 50267557 50277170 3p21.3 3p21.31 601281 SEMA5 Semaphorin A(V) SEMA3B 7869 ENSG00000012171 Sema3b (MGI:107561)
chr3 50287731 50292594 3p21.3 3p21.31 602725 IFRD2 Interferon-related developmental regulator-2 IFRD2 7866 ENSG00000214706 Ifrd2 (MGI:1316708)
chr3 50292827 50299467 3p21.3 3p21.31 604038 HYAL3, LUCA3 Hyaluronoglucosaminidase 3 HYAL3 8372 ENSG00000186792 Hyal3 (MGI:1330288)
chr3 50296401 50299420 3p21.3 3p21.31 607073 FUS2 FUS2 gene NAT6 24142 ENSG00000243477 Nat6 (MGI:1888902)
chr3 50299888 50312950 3p21.3-p21.2 3p21.31 607071 HYAL1, MPS9 Hyaluronoglucosaminidase 1 HYAL1 3373 ENSG00000114378 mutation identified in 1 MPS9 patient ?Mucopolysaccharidosis type IX, 601492 (3), Autosomal recessive Hyal1 (MGI:96298)
chr3 50317789 50322849 3p21.3 3p21.31 603551 HYAL2, LUCA2 Hyaluronoglucosaminidase 2 HYAL2 8692 ENSG00000068001 Hyal2 (MGI:1196334)
chr3 50324908 50328237 3p21.3 3p21.31 607052 FUS1 FUS1 gene TUSC2 11334 ENSG00000114383 Tusc2 (MGI:1931086)
chr3 50329785 50340935 3p21.3 3p21.31 605082 RASSF1 RAS association domain family protein 1 RASSF1 11186 ENSG00000068028 epigenetically inactivated Lung cancer, 211980 (2), Autosomal recessive Rassf1 (MGI:1928386)
chr3 50341105 50345745 3p21.3 3p21.31 607070 ZMYND10, BLU Zinc finger MYND domain-containing protein 10 ZMYND10 51364 ENSG00000004838 Ciliary dyskinesia, primary, 22, 615444 (3), Autosomal recessive Zmynd10 (MGI:2387863)
chr3 50347486 50351054 3p21.3 3p21.31 607072 NPR2L, NPRL2, FFEVF2 Npr2, S. cerevisiae, homolog of NPRL2 10641 ENSG00000114388 Epilepsy, familial focal, with variable foci 2, 617116 (3), Autosomal dominant Nprl2 (MGI:1914482)
chr3 50350694 50368196 3p21.3 3p21.31 607068 CYB561D2, 101F6 Cytochrome b-561 domain containing 2 CYB561D2 11068 ENSG00000114395 Cyb561d2 (MGI:1929280)
chr3 50354748 50359507 3p21.3 3p21.31 607069 TMEM115, PL6 Transmembrane protein 115 TMEM115 11070 ENSG00000126062
chr3 50362612 50504243 3p21.3 3p21.31 607082 CACNA2D2, KIAA0558 Calcium channel, voltage-dependent, alpha-2/delta subunit 2 CACNA2D2 9254 ENSG00000007402 Cacna2d2 (MGI:1929813)
chr3 50606453 50611830 3p21.3 3p21.2 602441 CISH, BACTS2 Cytokine inducible SH2-containing protein CISH 1154 ENSG00000114737 {Bacteremia, susceptibility to}, 614383 (3); {Malaria, susceptibility to}, 611162 (3); {Tuberculosis, susceptibility to}, 607948 (3) Cish (MGI:103159)
chr3 50611861 50649296 3p21.3 3p21.2 602130 MAPKAP3, 3PK, MDPT3 Mitogen-activated protein kinase-activated protein kinase-3 MAPKAPK3 7867 ENSG00000114738 mutation identified in 1 MDPT3 family ?Macular dystrophy, patterned, 3, 617111 (3), Autosomal dominant Mapkapk3 (MGI:2143163)
chr3 50674968 51384197 3p14 3p21.2 603123 DOCK3 Dedicator of cytokinesis 3 DOCK3 1795 ENSG00000088538 Dock3 (MGI:2429763)
chr3 51385236 51389396 3p21.1 3p21.2 601916 ARMET, ARP Arginine-rich protein, mutated in early stage tumors MANF 7873 ENSG00000145050 Manf (MGI:1922090)
chr3 51391267 51397907 3p21.1 3p21.2 612602 RBM15B, OTT3, HUMAGCGB RNA-binding motif protein 15B RBM15B 29890 ENSG00000259956 Rbm15b (MGI:1923598)
chr3 51394260 51505619 3p21.2 3p21.2 617259 DCAF1, RIP, VPRBP, KIAA0800 DDB1- and CUL4-associated factor 1 DCAF1 9730 ENSG00000145041 Dcaf1 (MGI:2445220)
chr3 51707032 51718615 3p21.2-p21.1 3p21.2 604099 GRM2, MGLUR2 Glutamate receptor, metabotropic, 2 GRM2 2912 ENSG00000164082 Grm2 (MGI:1351339)
chr3 51942276 51948866 3p21.3-p21.1 3p21.2 607726 PARP3, ADPRTL3 Poly(ADP-ribose) polymerase 3 PARP3 10039 ENSG00000041880 Parp3 (MGI:1891258)
chr3 51955313 51957503 3p21.1 3p21.2 606917 GPR62 G protein-coupled receptor 62 GPR62 118442 ENSG00000180929 Gpr62 (MGI:3525078)
chr3 51957453 51967465 3p21.2 3p21.2 608503 PCBP4, MGC10 Poly(rC)-binding protein 4 PCBP4 57060 ENSG00000090097 Pcbp4 (MGI:1890471)
chr3 51983283 51989201 3p21.1 3p21.2 104620 ACY1, ACY1D Aminoacylase-1 ACY1 95 ENSG00000243989 Aminoacylase 1 deficiency, 609924 (3), Autosomal recessive Acy1 (MGI:87913)
chr3 51993606 51995941 3q29-qter 3p21.2 601832 RPL29, HIP Ribosomal protein L29 RPL29 6159 ENSG00000162244
chr3 52048918 52056444 3p21 3p21.2 602749 DUSP7, MKPX, PYST2 Dual-specificity phosphatase-7 DUSP7 1849 ENSG00000164086 Dusp7 (MGI:2387100)
chr3 52075232 52154689 3p21.2 3p21.2 614783 POC1A, PIX2, SOFT POC1 centriolar protein, Chlamydomonas, homolog of, A POC1A 25886 ENSG00000164087 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3), Autosomal recessive Poc1a (MGI:1917485)
chr3 52198082 52214326 3p21.1 3p21.2 125290 ALAS1 Aminolevulinate, delta-, synthase-1 ALAS1 211 ENSG00000023330 Alas1 (MGI:87989)
chr3 52221079 52226162 3p21.3 3p21.2 605474 TLR9 Toll-like receptor 9 TLR9 54106 ENSG00000239732 Tlr9 (MGI:1932389)
chr3 52228609 52239166 3p21.1 3p21.2 607433 TWF2, PTK9L, A6RP Twinfilin, actin-binding protein, Drosophila, homolog of, 2 TWF2 11344 ENSG00000247596 Twf2 (MGI:1346078)
chr3 52245724 52250598 3p21.2 3p21.2 608979 PPM1M, PP2CE Protein phosphatase 1M (protein phosphatase 2C, eta isoform) PPM1M 132160 ENSG00000164088 Ppm1m (MGI:1915155)
chr3 52254421 52278642 3p21.1 3p21.2 611059 WDR82, TMEM113 WD repeat-containing protein 82 WDR82 80335 ENSG00000164091 Wdr82 (MGI:1924555)
chr3 52268277 52268360 3p21.1 3p21.2 612102 MIRLET7G, LET7G, MIRNLET7G Micro RNA Let7G MIRLET7G 406890
chr3 52287557 52295255 3p21 3p21.2 610516 GLYCTK, GLYCTK1 Glycerate kinase GLYCTK 132158 ENSG00000168237 D-glyceric aciduria, 220120 (3), Autosomal recessive Glyctk (MGI:2444085)
chr3 52313009 52400496 3p21.3 3p21.1 603332 DNAH1, HL11, DNAHC1, HDHC7, SPGF18, CILD37 Dynein, axonemal, heavy chain-1 DNAH1 25981 ENSG00000114841 mutation identified in 1 CILD37 family ?Ciliary dyskinesia, primary, 37, 617577 (3), Autosomal recessive; Spermatogenic failure 18, 617576 (3), Autosomal recessive Dnah1 (MGI:107721)
chr3 52401003 52410104 3p21.3 3p21.1 603089 BAP1, TPDS BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) BAP1 8314 ENSG00000163930 Tumor predisposition syndrome, 614327 (3), Autosomal dominant Bap1 (MGI:1206586)
chr3 52451090 52454040 3p21.3-p14.3 3p21.1 191040 TNNC1, CMD1Z, CMH13 Troponin-C1, slow TNNC1 7134 ENSG00000114854 Cardiomyopathy, dilated, 1Z, 611879 (3); Cardiomyopathy, hypertrophic, 13, 613243 (3), Autosomal dominant Tnnc1 (MGI:98779)
chr3 52455507 52493071 3p21.1 3p21.1 615507 NISCH, IRAS, KIAA0975 Nischarin NISCH 11188 ENSG00000010322
chr3 52545351 52685906 3p21 3p21.1 606083 PBRM1, PB1, BAF180 Polybromo 1, chicken, homolog of PBRM1 55193 ENSG00000163939 Pbrm1 (MGI:1923998)
chr3 52685919 52694496 3p21.1 3p21.1 608011 GNL3, NS, E2IG3 Guanine nucleotide-binding protein-like 3 GNL3 26354 ENSG00000163938 Gnl3 (MGI:1353651)
chr3 52705840 52708181 3p21.1 3p21.1 610358 SPCS1, SPC12 Signal peptidase complex, subunit 1, S. cerevisiae, homolog of SPCS1 28972 ENSG00000114902 Spcs1 (MGI:1916269)
chr3 52708448 52770948 3p21.1 3p21.1 601959 NEK4, STK2, NRK2 NIMA (never in mitosis gene a)-related kinase 4 (serine/threonine protein kinase-2) NEK4 6787 ENSG00000114904 Nek4 (MGI:1344404)
chr3 52777585 52792067 3p21.2-p21.1 3p21.1 147270 ITIH1 Inter-alpha (globulin) inhibitor, H1 polypeptide ITIH1 3697 ENSG00000055957 Itih1 (MGI:96618)
chr3 52794767 52809008 3p21.2-p21.1 3p21.1 146650 ITIH3 Inter-alpha (globulin) inhibitor, H3 polypeptide ITIH3 3699 ENSG00000162267 Itih3 (MGI:96620)
chr3 52812989 52830700 3p21.2-p14.1 3p21.1 600564 ITIH4, PK120, ITIHL1 Inter-alpha (globulin) inhibitor, H4 polypeptide ITIH4 3700 ENSG00000055955 {Hypercholesterolemia, susceptibility to}, 143890 (3), Autosomal dominant Itih4 (MGI:109536)
chr3 52833114 52835218 3p21.1 3p21.1 617195 MUSTN1, MUSTANG Musculoskeletal embryonic nuclear protein 1 MUSTN1 389125 ENSG00000272573 Mustn1 (MGI:1913425)
chr3 52836755 52897580 3p21.1 3p21.1 617189 TMEM110, STIMATE Transmembrane protein 110 STIMATE 375346 ENSG00000213533
chr3 52899208 53046654 3p21.1 3p21.1 607319 SFMBT1, RU1 SCM-like protein with 4 MBT domains 1 SFMBT1 51460 ENSG00000163935 Sfmbt1 (MGI:1859609)
chr3 53071150 53130468 3p21.1 3p21.1 611908 RFT1, CDG1N RFT1, S. cerevisiae, homolog of RFT1 91869 ENSG00000163933 Congenital disorder of glycosylation, type In, 612015 (3), Autosomal recessive Rft1 (MGI:3607791)
chr3 53161206 53192716 3p 3p21.1 176977 PRKCD, CVID9, ALPS3 Protein kinase C, delta PRKCD 5580 ENSG00000163932 mutation identified in 1 family Autoimmune lymphoproliferative syndrome, type III, 615559 (3), Autosomal recessive Prkcd (MGI:97598)
chr3 53224706 53256113 3p14.3 3p21.1 606781 TKT, SDDHD Transketolase TKT 7086 ENSG00000163931 Short stature, developmental delay, and congenital heart defects, 617044 (3), Autosomal recessive Tkt (MGI:105992)
chr3 53283422 53347626 3p21.1 3p21.1 607010 DCP1A, SMIF Decapping enzyme 1, X. cerevisiae, homolog of, A DCP1A 55802 ENSG00000272886 Dcp1a (MGI:1923151)
chr3 53495048 53813150 3p21.1 3p21.1 114206 CACNA1D, CACNL1A2, CCHL1A2, SANDD, PASNA Calcium channel, voltage-dependent, L type, alpha 1D subunit CACNA1D 776 ENSG00000157388 Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3), Autosomal dominant; Sinoatrial node dysfunction and deafness, 614896 (3), Autosomal recessive Cacna1d (MGI:88293)
chr3 53846549 53867387 3p21.1 3p21.1 605458 IL17RB, IL17BR, IL17RH1 Interleukin 17, receptor B IL17RB 55540 ENSG00000056736 Il17rb (MGI:1355292)
chr3 53884975 53892014 3p21.31 3p21.1 607916 SELENOK, SELK, HSPC030 Selenoprotein K SELENOK 58515 ENSG00000113811 Selenok (MGI:1931466)
chr3 54122593 55074556 3p21.1 3p21.1-p14.3 606399 CACNA2D3 Calcium channel, voltage-dependent, alpha-2/delta subunit 3 CACNA2D3 55799 ENSG00000157445 Cacna2d3 (MGI:1338890)
chr3 54400000 122200000 3p14-q13 608586 KTCN3 Keratoconus 3 406215 Keratoconus 3, 608586 (2)
chr3 54632123 54639856 3p14.3 3p14.3 611473 HESRG Embryonic stem cell-related protein ESRG 790952
chr3 55465714 55505260 3p21-p14 3p14.3 164975 WNT5A Wingless-type MMTV integration site family, member 5A WNT5A 7474 ENSG00000114251 Robinow syndrome, autosomal dominant 1, 180700 (3), Autosomal dominant Wnt5a (MGI:98958)
chr3 55508310 56468472 3p14.3 3p14.3 617250 ERC2, CAST, KIAA0378 ELKS/RAB6-interacting/CAST family, member 2 ERC2 26059 ENSG00000187672 Erc2 (MGI:1098749)
chr3 56620131 56683236 3p14.3 3p14.3 616493 FAM208A, RAP140, C3orf63, KIAA1105 Family with sequence similarity 208, member A FAM208A 23272 ENSG00000163946 Fam208a (MGI:1921694)
chr3 56727417 57079307 3p21-p13 3p14.3 612115 ARHGEF3, XPLN RHO guanine nucleotide exchange factor 3 ARHGEF3 50650 ENSG00000163947 Arhgef3 (MGI:1918954)
chr3 57060440 57075431 3p21.2-p21.1 3p14.3 609869 SPATA12, SRG5 Spermatogenesis-associated protein 12 SPATA12 353324 ENSG00000186451
chr3 57089981 57170316 3p14.3-p14.2 3p14.3 606807 IL17RD, SEF, HH18 Interleukin 17, receptor D (Sef, zebrafish, homolog of) IL17RD 54756 ENSG00000144730 Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3), Autosomal recessive, Autosomal dominant Il17rd (MGI:2159727)
chr3 57197837 57227642 3p21.2-p21.1 3p14.3 601802 HESX1, RPX, CPHD5 Homeo box gene expressed in ES cells HESX1 8820 ENSG00000163666 Growth hormone deficiency with pituitary anomalies, 182230 (3), Autosomal recessive, Autosomal dominant; Pituitary hormone deficiency, combined, 5, 182230 (3), Autosomal recessive, Autosomal dominant; Septooptic dysplasia, 182230 (3), Autosomal recessive, Autosomal dominant Hesx1 (MGI:96071)
chr3 57227736 57273470 3p21.1-p14.3 3p14.3 604299 APPL1, APPL, MODY14 Adaptor protein containing PH domain, PTB domain, and leucine zipper motif 1 APPL1 26060 ENSG00000157500 {Maturity-onset diabetes of the young, type 14}, 616511 (3), Autosomal dominant Appl1 (MGI:1920243)
chr3 57293698 57545202 3p21.1 3p14.3 603340 DNAH12, DNAHC3, HL19 Dynein, heavy chain-5 DNAH12 201625 ENSG00000174844 Dnah12 (MGI:107720)
chr3 57556246 57656479 3q21.2 3p14.3 616519 PDE12 Phosphodiesterase 12 PDE12 201626 ENSG00000174840 Pde12 (MGI:2443226)
chr3 57571362 57597487 3p14.1 3p14.3 601177 ARF4, ARF2 ADP-ribosylation factor 4 ARF4 378 ENSG00000168374 Arf4 (MGI:99433)
chr3 57756228 57930012 3p21.2-p14.3 3p14.3 602701 SLAP Sarcolemmal-associated protein SLMAP 7871 ENSG00000163681 Slmap (MGI:1933549)
chr3 58008399 58172254 3p14.3 3p14.3 603381 FLNB, SCT, AOI, LRS1 Filamin B FLNB 2317 ENSG00000136068 Atelosteogenesis, type I, 108720 (3), Autosomal dominant; Atelosteogenesis, type III, 108721 (3), Autosomal dominant; Boomerang dysplasia, 112310 (3), Autosomal dominant; Larsen syndrome, 150250 (3), Autosomal dominant; Spondylocarpotarsal synostosis syndrome, 272460 (3), Autosomal recessive Flnb (MGI:2446089)
chr3 58192625 58211002 3p21.1-p14.3 3p14.3 602244 DNASE1L3, SLEB16 Deoxyribonuclease I-like 3 DNASE1L3 1776 ENSG00000163687 Systemic lupus erythematosus 16, 614420 (3), Autosomal recessive Dnase1l3 (MGI:1314633)
chr3 58237501 58294735 3p14.3 3p14.3 616966 ADHB6 Abhydrolase domain-containing protein 6 ABHD6 57406 ENSG00000163686 Abhd6 (MGI:1913332)
chr3 58306244 58320192 3p14.3 3p14.3 606112 RPP14 Ribonuclease P, 14kD subunit RPP14 11102 ENSG00000163684 Rpp14 (MGI:1914303)
chr3 58332889 58426126 3p14.3 3p14.3 611450 PXK, MONAKA PXK domain-containing serine/threonine kinase PXK 54899 ENSG00000168297 Pxk (MGI:1289230)
chr3 58427629 58433851 3p13-q23 3p14.3 179060 PDHB, PDHBD Pyruvate dehydrogenase, E1 beta polypeptide PDHB 5162 ENSG00000168291 Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) Pdhb (MGI:1915513)
chr3 58505135 58537201 3p14.3 3p14.3 601641 ACOX2, BRCACOX, CBAS6 Acyl-Coenzyme A oxidase 2, branched chain ACOX2 8309 ENSG00000168306 Bile acid synthesis defect, congenital, 6, 617308 (3), Autosomal recessive Acox2 (MGI:1934852)
chr3 58564111 58627609 3p21.1 3p14.3-p14.2 608295 FAM107A, DRR1, TU3A Family with sequence similarity 107, member A (downregulated in renal cell carcinoma 1) FAM107A 11170 ENSG00000168309 Fam107a (MGI:3041256)
chr3 58633942 58666842 3p14.2 3p14.2 608619 FAM3D Family with sequence similarity 3, member D FAM3D 131177 ENSG00000198643 Oit1 (MGI:1201784)
chr3 59747277 61251473 3p14.2 3p14.2 601153 FRA3B, FHIT Fragile histidine triad gene FHIT 2272 ENSG00000189283 deleted in RCC Fhit (MGI:1277947)
chr3 61561568 62297608 3p14.2 3p14.2 176886 PTPRG, PTPG Protein tyrosine phosphatase, receptor type, gamma polypeptide PTPRG 5793 ENSG00000144724 Ptprg (MGI:97814)
chr3 62369671 62373514 3p14.2 3p14.2 607414 FEZF2, ZNF312, FEZL, TOF FEZ family zinc finger 2 FEZF2 55079 ENSG00000153266 Fezf2 (MGI:1859823)
chr3 62398345 62875864 3p21.1 3p14.2 604667 CADPS, CAPS Ca(2+)-dependent activator protein for secretion CADPS 8618 ENSG00000163618 Cadps (MGI:1350922)
chr3 63652667 63665216 3p14.2 3p14.2 617832 SNTN, S100AL, S100A1L Sentan, cilia apical structural protein SNTN 132203 ENSG00000188817 Sntn (MGI:3045373)
chr3 63800000 103100000 3p14.1-q12.3 610948 HYT7 Hypertension, essential, susceptibility to, 7 100188825 {Hypertension, essential, susceptibility to, 7}, 610948 (2)
chr3 63833869 63864477 3p14.1 3p14.1 611965 THOC7, NIF3L1BP1 THO complex, subunit 7 THOC7 80145 ENSG00000163634 Thoc7 (MGI:1913481)
chr3 63864556 64003461 3p14.1 3p14.1 607640 ATXN7, SCA7, OPCA3 Ataxin 7 ATXN7 6314 ENSG00000163635 Spinocerebellar ataxia 7, 164500 (3), Autosomal dominant Atxn7 (MGI:2179277)
chr3 63911517 63911771 3p14.1 3p14.1 614481 ATXN7AS1, SCAANT1 ATXN7 antisense noncoding transcript 1 SCAANT1 100861563
chr3 64010548 64024009 3p14.1 3p14.1 617857 PSMD6, KIAA0107 Proteasome 26S subunit, non-ATPase, 6 PSMD6 9861 ENSG00000163636 Psmd6 (MGI:1913663)
chr3 64093849 64445475 3p14 3p14.1 608501 PRICKLE2 Prickle-like 2 PRICKLE2 166336 ENSG00000163637 Prickle2 (MGI:1925144)
chr3 64515653 64687999 3p14.3-p14.2 3p14.1 605421 ADAMTS9 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 9 ADAMTS9 56999 ENSG00000163638 Adamts9 (MGI:1916320)
chr3 65354230 66038833 3p14.1 3p14.1 602625 MAGI1, BAIAP1, WWP3, TNRC19 Membrane-associated guanylate kinase, WW and PDZ domains-containing, 1 MAGI1 9223 ENSG00000151276 Magi1 (MGI:1203522)
chr3 66133609 66380020 3p14.3 3p14.1 611037 SLC25A26, SAMC, COXPD28 Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26 SLC25A26 115286 ENSG00000144741 Combined oxidative phosphorylation deficiency 28, 616794 (3), Autosomal recessive Slc25a26 (MGI:1914832)
chr3 66378796 66501262 3p14 3p14.1 608868 LRIG1, LIG1 Leucine-rich repeats- and immunoglobulin-like domains-containing protein 1 LRIG1 26018 ENSG00000144749 Lrig1 (MGI:107935)
chr3 66998302 67011209 3p14.1 3p14.1 616607 KBTBD8, TAKRP, KIAA1842 KELCH repeat- and BTB/POZ domain-containing protein 8 KBTBD8 84541 ENSG00000163376 Kbtbd8 (MGI:2661430)
chr3 67360459 67654613 3p14.1 3p14.1 603922 SUCLG2 Succinate-CoA ligase, GDP-forming, beta subunit SUCLG2 8801 ENSG00000172340 Suclg2 (MGI:1306824)
chr3 67991591 68546055 3p14.1 3p14.1 617495 FAM19A1, TAFA1 Family with sequence similarity 19, member A1, CC motif chemokine-like FAM19A1 407738 ENSG00000183662 Fam19a1 (MGI:2443695)
chr3 68731763 68932609 3p14.1 3p14.1 617498 FAM19A4, TAFA4 Family with sequence similarity 19, member A4, CC motif chemokine-like FAM19A4 151647 ENSG00000163377 Fam19a4 (MGI:2444563)
chr3 68975211 69013960 3p14.1 3p14.1 614789 EOGT, EOGT1, C3orf64, AOS4 EGF domain-specific O-linked N-acetylglucosamine transferase EOGT 285203 ENSG00000163378 Adams-Oliver syndrome 4, 615297 (3), Autosomal recessive Eogt (MGI:2141669)
chr3 69019826 69052332 3p21-p12 3p14.1 601126 TMF1 TATA element modulatory factor 1 TMF1 7110 ENSG00000144747 Tmf1 (MGI:2684999)
chr3 69084938 69106087 3p14 3p14.1 605709 ARL6IP5 ADP-ribosylation-like factor 6-interacting protein 5 ARL6IP5 10550 ENSG00000144746 Arl6ip5 (MGI:1929501)
chr3 69108671 69122594 3p14.1 3p14.1 616112 LMOD3, NEM10 Leiomodin 3 LMOD3 56203 ENSG00000163380 Nemaline myopathy 10, 616165 (3), Autosomal recessive Lmod3 (MGI:2444169)
chr3 69168781 69541339 3p14.1 3p14.1 617467 FRMD4B, GRSP1, KIAA1013 FERM domain-containing protein 4B FRMD4B 23150 ENSG00000114541 Frmd4b (MGI:2141794)
chr3 69739434 69968336 3p14.1-p12.3 3p13 156845 MITF, WS2A, CMM8, COMMAD Microphthalmia-associated transcription factor MITF 4286 ENSG00000187098 COMMAD syndrome, 617306 (3), Autosomal recessive; {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3); Tietz albinism-deafness syndrome, 103500 (3), Autosomal dominant; Waardenburg syndrome, type 2A, 193510 (3), Autosomal dominant; Waardenburg syndrome/ocular albinism, digenic, 103470 (3), Autosomal dominant Mitf (MGI:104554)
chr3 69999743 70015300 3p13 3p13 616895 SAMMSON, LINC01212 Survival-associated mitochondrial melanoma-specific oncogenic noncoding RNA SAMMSON 101927152
chr3 70954713 71583988 3p14.1 3p13 605515 FOXP1, QRF1 Forkhead box P1 FOXP1 27086 ENSG00000114861 Mental retardation with language impairment and with or without autistic features, 613670 (3), Autosomal dominant
chr3 71679288 71754772 3p14 3p13 609896 EIF4E3 Eukaryotic translation initiation factor 4E family, member 3 EIF4E3 317649 ENSG00000163412 Eif4e3 (MGI:1914142)
chr3 71753723 71756379 3p21-p14 3p13 605187 GPR27, SREB1 G protein-coupled receptor 27 GPR27 2850 ENSG00000170837 Gpr27 (MGI:1202299)
chr3 71771654 71785205 3p21.1 3p13 607002 PROK2, PK2, BV8, HH4 Prokineticin 2 PROK2 60675 ENSG00000163421 Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3), Autosomal dominant Prok2 (MGI:1354178)
chr3 72374592 72446622 3p13 3p13 607535 RYBP, YEAF1 Ring1- and YY1-binding protein RYBP 23429 Rybp,Rybp-ps (MGI:3648043,MGI:1929059)
chr3 72725701 72848474 3p13 3p13 613663 SHQ1 Shq1, S. cerevisiae, homolog of SHQ1 55164 ENSG00000144736 Shq1 (MGI:1919421)
chr3 72848521 72976916 3p13 3p13 613322 GXYLT2, GLT8D4 Glucoside xylosyltransferase 2 GXYLT2 727936 ENSG00000172986 Gxylt2 (MGI:2682940)
chr3 72996742 73069200 3p13 3p13 613822 PPP4R2, PP4R2 Protein phosphatase 4, regulatory subunit 2 PPP4R2 151987 ENSG00000163605 Ppp4r2 (MGI:3027896)
chr3 73061658 73063336 3p14-p13 3p13 613250 EBLN2 Endogenous Borna-like N element-containing protein 2 EBLN2 55096 ENSG00000255423
chr3 73382429 73624996 3p13 3p13 609729 PDZRN3, KIAA1095 PDZ domain-containing ring finger protein 3 PDZRN3 23024 ENSG00000121440 Pdzrn3 (MGI:1933157)
chr3 74100000 122200000 3p12-q13 606896 DYX5 Dyslexia, susceptibility to, 5 DYX5 171089 ?same locus as SSD {Dyslexia, susceptibility to, 5}, 606896 (2)
chr3 74100000 113700000 3p12-q13.2 109720 PBC1 Biliary cirrhosis, primary, 1 associated with rs6441286 Biliary cirrhosis, primary, 1, 109720 (2), Autosomal dominant
chr3 74100000 122200000 3p12-q13 608445 SSD Speech-sound disorder 404713 ?same locus as DYX5 {Speech-sound disorder}, 608445 (2)
chr3 74262567 74614447 3p26 3p12.3 601325 CNTN3, PANG Contactin 3 (plasmocytoma-associated neuronal glycoprotein) CNTN3 5067 ENSG00000113805 Cntn3 (MGI:99534)
chr3 75906674 77649963 3p12.3 3p12.3 602431 ROBO2, SAX3, KIAA1568 Roundabout, Drosophila, homolog of, 2 ROBO2 6092 ENSG00000185008 Vesicoureteral reflux 2, 610878 (3) Robo2 (MGI:1890110)
chr3 78597237 79767997 3p12 3p12.3 602430 ROBO1, DUTT1, SAX3 Roundabout, Drosophila, homolog of, 1 ROBO1 6091 ENSG00000169855 Robo1 (MGI:1274781)
chr3 81489698 81761798 3p12 3p12.2 607839 GBE1, GSD4, APBD Glycogen branching enzyme GBE1 2632 Glycogen storage disease IV, 232500 (3), Autosomal recessive; Polyglucosan body disease, adult form, 263570 (3), Autosomal recessive Gbe1 (MGI:1921435)
chr3 84958981 86074428 3p12 3p12.1 609938 CADM2, IGSF4D, SYNCAM2, NECL3 Cell adhesion molecule 2 CADM2 253559 ENSG00000175161 Cadm2 (MGI:2442722)
chr3 86937968 86991122 3p12.1 3p12.1 609980 VGLL3, VGL3 Vestigial-like 3 VGLL3 389136 ENSG00000206538 Vgll3 (MGI:1920819)
chr3 87227262 87255547 3p11.2 3p11.2 609512 CHMP2B, DMT1, VPS2B, ALS17 CHMP family, member 2B CHMP2B 25978 ENSG00000083937 Amyotrophic lateral sclerosis 17, 614696 (3), Autosomal dominant; Dementia, familial, nonspecific, 600795 (3), Autosomal dominant Chmp2b (MGI:1916192)
chr3 87259632 87276586 3p11 3p11.2 173110 POU1F1, PIT1, CPHD1 POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1) POU1F1 5449 ENSG00000064835 Pituitary hormone deficiency, combined, 1, 613038 (3), Autosomal recessive, Autosomal dominant Pou1f1 (MGI:97588)
chr3 87792766 87994855 3p12 3p11.2-p11.1 182134 HTR1F, HTR1EL, MR77 5-hydroxytryptamine receptor 1F HTR1F 3355 ENSG00000179097 Htr1f (MGI:99842)
chr3 88051949 88149865 3p12-p11.1 3p11.1 603363 CGGBP1 CGG triplet repeat binding protein 1 CGGBP1 8545 ENSG00000163320 Cggbp1 (MGI:2146370)
chr3 89107523 89482133 3p11.2 3p11.1 179611 EPHA3, ETK1, HEK Ephrin receptor EphA3 (human embryo kinase 1) EPHA3 2042 ENSG00000044524 Epha3 (MGI:99612)
chr3 90900000 122200000 3cen-q13 614012 ERVK-5, HERV-KII Endogenous retrovirus group K, member 5 ERVK-5 60358
chr3 93873036 93974089 3q11.2 3q11.1 176880 PROS1, THPH5, THPH6 Protein S, alpha PROS1 5627 ENSG00000184500 pseudogene PROSP contiguous on chr.3 Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3), Autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3), Autosomal recessive Pros1 (MGI:1095733)
chr3 93980138 94055677 3q11.2 3q11.1-q11.2 608922 ARL13B, ARL2L1, JBTS8 ADP-ribosylation factor-like 13B ARL13B 200894 ENSG00000169379 Joubert syndrome 8, 612291 (3), Autosomal recessive Arl13b (MGI:1915396)
chr3 94000000 108200000 3q11.2-q13.12 114200 CAMPD1 Camptodactyly 1 100381210 between D3S2465 and D3S3044 Camptodactyly 1, 114200 (2), Autosomal dominant
chr3 94057921 94063388 3q11.2 3q11.2 616588 DHFRL1 Dihydrofolate reductase-like 1 DHFR2 200895 ENSG00000178700
chr3 94062904 94131831 3q11.2 3q11.2 617491 NSUN3 NOP2/SUN RNA methyltransferase family, member 3 NSUN3 63899 ENSG00000178694 Nsun3 (MGI:2146565)
chr3 96814580 97761531 3q11.2 3q11.2 600066 EPHA6, HEK12, EHK2 Ephrin receptor EphA6 EPHA6 285220 ENSG00000080224 Epha6 (MGI:108034)
chr3 97762580 97812584 3p12-q13 3q11.2 608845 ARL6, BBS3, RP55 ADP-ribosylation factor-like 6 ARL6 84100 ENSG00000113966 mutation identified in 1 RPS55 family {Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Autosomal recessive, Digenic recessive; Bardet-Biedl syndrome 3, 600151 (3), Autosomal recessive; ?Retinitis pigmentosa 55, 613575 (3) Arl6 (MGI:1927136)
chr3 97941816 97972450 3q12.1 3q11.2 612049 MINA, MINA53, MDIG MYC-induced nuclear antigen RIOX2 84864 ENSG00000170854 Riox2 (MGI:1914264)
chr3 98531898 98534678 3q11.2-q13.1 3q11.2 601166 GPR15 G protein-coupled receptor-15 GPR15 2838 ENSG00000154165 Gpr15 (MGI:1918473)
chr3 98569836 98593683 3q12 3q11.2 612732 CPOX Coproporphyrinogen oxidase CPOX 1371 ENSG00000080819 Coproporphyria, 121300 (3), Autosomal dominant; Harderoporphyria, 121300 (3), Autosomal dominant Cpox (MGI:104841)
chr3 98732235 98795844 3q12.1 3q12.1 607156 ST3GAL6, ST3GALVI ST3 beta-galactoside alpha-2,3-sialyltransferase 6 ST3GAL6 10402 ENSG00000064225 St3gal6 (MGI:1888707)
chr3 98795969 98901691 3q12.1 3q12.1 608698 DCBLD2, ESDN Discoidin, CUB, and LCCL domain-containing protein 2 DCBLD2 131566 ENSG00000057019 Dcbld2 (MGI:1920629)
chr3 99638595 99796732 3q12-q13.1 3q12.1 120251 COL8A1 Collagen VIII, alpha-1 polypeptide COL8A1 1295 ENSG00000144810 Col8a1 (MGI:88463)
chr3 99833143 100114512 3q12.1 3q12.1 612993 FILIP1L Filamin A-interacting protein 1-like FILIP1L 11259 ENSG00000168386 Filip1l (MGI:1925999)
chr3 100185823 100194185 3q12 3q12.1 611030 TMEM30C, CDC50C Transmembrane protein 30C TMEM30CP 644444
chr3 100260816 100325251 3q12.1-q12.2 3q12.1-q12.2 617687 TBC1D23, PCH11 TBC1 domain family, member 23 TBC1D23 55773 ENSG00000036054 Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive Tbc1d23 (MGI:1914831)
chr3 100334717 100355633 3q12.2 3q12.2 616769 NIT2 Nitrilase family member 2 NIT2 56954 ENSG00000114021 Nit2 (MGI:1261838)
chr3 100363458 100401397 3q12.2 3q12.2 606081 TOMM70A Translocase of outer mitochondrial membrane 70, yeast, homolog of, A TOMM70 9868 ENSG00000154174 Tomm70a (MGI:106295)
chr3 100492618 100577452 3q12.2 3q12.2 616928 TMEM45A, DERP7, DNAPTP4 Transmembrane protein 45A TMEM45A 55076 ENSG00000181458 Tmem45a (MGI:1913122)
chr3 100609588 100696173 3q12.2 3q12.2 612307 ADGRG7, GPR128 Adhesion G protein-coupled receptor G7 ADGRG7 84873 ENSG00000144820 Adgrg7 (MGI:2441732)
chr3 100709289 100748966 3q11-q12 3q12.2 602498 TFG, HMSNP, SPG57 TRK-fused gene TFG 10342 ENSG00000114354 fused with NR4A3 or NTRK1; mutation identified in 1 SPG57 family Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3), Autosomal dominant; ?Spastic paraplegia 57, autosomal recessive, 615658 (3), Autosomal recessive Tfg (MGI:1338041)
chr3 100749328 100993507 3q12 3q12.2 606279 TARSH Target of Nesh-SH3 ABI3BP 25890 ENSG00000154175
chr3 101222545 101320574 3q11.2 3q12.3 607056 IMPG2, IPM200, RP56, VMD5 Interphotoreceptor matrix proteoglycan 2 IMPG2 50939 ENSG00000081148 Macular dystrophy, vitelliform, 5, 616152 (3), Autosomal dominant; Retinitis pigmentosa 56, 613581 (3), Autosomal recessive Impg2 (MGI:3044955)
chr3 101324188 101513882 3q12.3 3q12.3 612846 SENP7, KIAA1707 Sentrin-specific protease family, member 7 SENP7 57337 ENSG00000138468 Senp7 (MGI:1913565)
chr3 101561835 101566445 3q12.3 3q12.3 615423 TRMT10C, RG9MTD1, MRPP1, COXPD30 tRNA methyltransferase 10, S. cerevisiae, homolog of, C TRMT10C 54931 ENSG00000174173 Combined oxidative phosphorylation deficiency 30, 616974 (3), Autosomal recessive Trmt10c (MGI:1196261)
chr3 101574093 101594464 3q12.3 3q12.3 615210 PCNP PEST-containing nuclear protein PCNP 57092 ENSG00000081154 Pcnp (MGI:1923552)
chr3 101681089 101686718 3q 3q12.3 604180 RPL24 Ribosomal protein L24 RPL24 6152 ENSG00000114391 Rpl24 (MGI:1915443)
chr3 101723930 101770561 3q12.2 3q12.3 615864 CEP97 Centrosomal protein, 97kD CEP97 79598 ENSG00000182504 Cep97 (MGI:1921451)
chr3 101827989 101861024 3q13.11 3q12.3 608004 NFKBIZ, INAP, MAIL, IKBZ Nuclear factor of kappa light chain gene enhancer in B cells inhibitor, zeta NFKBIZ 64332 ENSG00000144802 Nfkbiz (MGI:1931595)
chr3 102385143 102479840 3q12.3 3q12.3 615915 ZPLD1 Zona pellucida-like domain-containing protein 1 ZPLD1 131368 ENSG00000170044 Zpld1 (MGI:2443415)
chr3 103100000 111600000 3q13.1 600467 MHS4 Malignant hyperthermia susceptibility 4 MHS4 4265 {Malignant hyperthermia susceptibility 4}, 600467 (2), Autosomal dominant
chr3 105366712 105576912 3q13.1-q13.2 3q13.11 601662 ALCAM Activated leukocyte cell adhesion molecule ALCAM 214 ENSG00000170017 Alcam (MGI:1313266)
chr3 105655460 105869551 3q13.11 3q13.11 604491 CBLB CAS-BR-M murine ecotropic retroviral transforming sequence B CBLB 868 ENSG00000114423 Cblb (MGI:2146430)
chr3 107240691 107326963 3q13.12 3q13.12 616619 DUBR, DUM, LINC0883 DPPA2 upstream-binding RNA, noncoding DUBR 344595
chr3 108043093 108094199 3q13.1-q13.2 3q13.12 601028 CD47, MER6, IAP CD47 antigen (Rh-related antigen; integrin-associated protein) CD47 961 ENSG00000196776 Cd47 (MGI:96617)
chr3 108160811 108222569 3p12-q13 3q13.12-q13.13 606621 IFT57, ESRRBL1, HIPPI, OFD18 Intraflagellar transport 57, chlamydomonas, homolog of (HIP1 protein interactor) IFT57 55081 ENSG00000114446 mutation identified in 1 OFD18 family ?Orofaciodigital syndrome XVIII, 617927 (3), Autosomal recessive Ift57 (MGI:1921166)
chr3 108296489 108378284 3q13.13 3q13.13 604371 HHLA2 Human endogenous retrovirus-H long terminal repeat-associating 2 HHLA2 11148 ENSG00000114455
chr3 108380368 108549461 3q13.13 3q13.13 609929 MYH15 Myosin, heavy chain 15 MYH15 22989 ENSG00000144821 Myh15 (MGI:3643515)
chr3 108545751 108589643 3q13.13 3q13.13 610643 KIAA1524, p90 KIAA1524 gene CIP2A 57650 ENSG00000163507 C330027C09Rik (MGI:2146335)
chr3 108589489 108694845 3q13.13 3q13.13 608672 DZIP3, KIAA0675 DAZ-interacting zinc finger protein 3 DZIP3 9666 ENSG00000198919 Dzip3 (MGI:1917433)
chr3 108755638 108757282 3q13.13 3q13.13 605645 RETNLB, RELMB, FIZZ2 Resistin-like protein, beta RETNLB 84666 ENSG00000163515 Retnlb (MGI:1888505)
chr3 108822697 108855004 3q13 3q13.13 604962 TRAT1, TRIM T-cell receptor-associated transmembrane adaptor 1 TRAT1 50852 ENSG00000163519 Trat1 (MGI:1924897)
chr3 108907643 108955194 3q13.1 3q13.13 605128 GUCA1C, GCAP3 Guanylate cyclase activator 1C GUCA1C 9626 ENSG00000138472
chr3 108958238 109118145 3q13 3q13.13 603205 MORC1 MORC family CW-type zinc finger 1 (microrchidia, mouse, homolog of) MORC1 27136 ENSG00000114487 Morc1 (MGI:1316740)
chr3 109293787 109316588 3q13.13 3q13.13 614445 DPPA2, PESCRG1, ECAT15-2 Developmental pluripotency-associated gene 2 DPPA2 151871 ENSG00000163530 Dppa2 (MGI:2157523)
chr3 109326140 109339634 3q13.13 3q13.13 614125 DPPA4 Developmental pluripotency-associated gene 4 DPPA4 55211 ENSG00000121570 Dppa4 (MGI:2157525)
chr3 111071758 111201443 3q13 3q13.13 607147 NECTIN3, PVRL3, PRR3 Nectin 3 NECTIN3 25945 ENSG00000177707 Nectin3 (MGI:1930171)
chr3 111542078 111665995 3q13.13 3q13.1-q13.2 606037 CD96, TACTILE CD96 antigen CD96 10225 ENSG00000153283 C syndrome, 211750 (3), Autosomal dominant Cd96 (MGI:1934368)
chr3 111592899 111595334 3q13.2 3q13.13 615246 ZBED2 Zinc finger BED domain-containing protein 2 ZBED2 79413 ENSG00000177494
chr3 111600000 122200000 3q13.2-q13.33 614655 STUT3 Stuttering, familial persistent, 3 100909386 max lod at D3S1310 Stuttering, familial persistent, 3, 614655 (2)
chr3 111674675 111846446 3q13.2 3q13.2 617015 PLCXD1 Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 2 PLCXD2 257068 ENSG00000240891 Plcxd2 (MGI:3647874)
chr3 111732479 111976516 3q13.2 3q13.2 610298 PHLDB2 Pleckstrin homology-like domain, family B, member 2 PHLDB2 90102 ENSG00000144824 Phldb2 (MGI:2444981)
chr3 111998738 112013887 3q13.2 3q13.2 607953 TAGLN3, NP24, NP22 Transgelin 3 TAGLN3 29114 ENSG00000144834 Tagln3 (MGI:1926784)
chr3 112086334 112136378 3q13.2 3q13.2 611956 C3orf52, TTMP Chromosome 3 open reading frame 52 C3orf52 79669 ENSG00000114529 BC016579 (MGI:2384848)
chr3 112120840 112133955 3q13 3q13.2 607792 GCET2, HGAL Germinal center-expressed transcript 2 GCSAM 257144 ENSG00000174500 Gcsam (MGI:102969)
chr3 112140897 112294257 3q13.2 3q13.2 612738 SLC9A10 Solute carrier family 9, member 10 SLC9C1 285335 ENSG00000172139 Slc9c1 (MGI:2685456)
chr3 112332223 112362811 3q12-q13 3q13.2 155970 MOX2 MRC OX-2 antigen CD200 4345 ENSG00000091972 Cd200 (MGI:1196990)
chr3 112463029 112499756 3q13.2 3q13.2 607925 BTLA B- and T-lymphocyte attenuator BTLA 151888 ENSG00000186265 Btla (MGI:2658978)
chr3 112604385 112641142 3q13.2 3q13.2 608298 URB, SSG1 Urb, mouse, homolog of CCDC80 151887 ENSG00000091986 Ccdc80 (MGI:1915146)
chr3 112922684 112975089 3q13.1 3q13.2 607546 CD200R1, MOX2R, OX2R CD200 receptor 1 CD200R1 131450 ENSG00000163606 Cd200r1 (MGI:1889024)
chr3 113002443 113019732 3q13.2 3q13.2 617089 NEPRO, C3orf17 Nucleolus and neural progenitor protein NEPRO 25871 ENSG00000163608 Nepro (MGI:2384836)
chr3 113286929 113441513 3q13.2 3q13.2 617559 CFAP44, WDR52, SPGF20 Cilia- and flagella-associated protein 44 CFAP44 55779 ENSG00000206530 mutation identified in 1 SPGF20 patient ?Spermatogenic failure 20, 617593 (3), Autosomal recessive Cfap44 (MGI:1277238)
chr3 113442717 113515186 3q13.2 3q13.2 613447 SPICE1, CCDC52 Spindle- and centriole-associated protein 1 SPICE1 152185 ENSG00000163611 Spice1 (MGI:1196252)
chr3 113648384 113696656 3q13.2 3q13.2 617568 USF3 Upstream transcription factor family, member 3 USF3 205717 ENSG00000176542 Usf3 (MGI:2685454)
chr3 113700000 117600000 3q13.31 615433 DEL3q13.31, C13DELq13.31 Chromosome 3q13.31 deletion syndrome Chromosome 3q13.31 deletion syndrome, 615433 (4), Autosomal dominant
chr3 113716459 113746298 3q13.2 3q13.31 610834 NAT13, NAT5, SAN N-acetyltransferase 13 NAA50 80218 ENSG00000121579 Naa50 (MGI:1919367)
chr3 113747018 113812057 3p13 3q13.31 607027 ATP6V1A1, HO68, ARCL2D ATPase, H+ transporting, lysosomal alpha polypeptide, 70-kD, isoform 1 ATP6V1A 523 ENSG00000114573 Cutis laxa, autosomal recessive, type IID, 617403 (3), Autosomal recessive Atp6v1a (MGI:1201780)
chr3 113947900 113998001 3q13.31 3q13.31 617334 ZDHHC23, NIDD Zinc finger DHHC-type containing 23 ZDHHC23 254887 ENSG00000184307 Zdhhc23 (MGI:2685625)
chr3 114127622 114199406 3q13.3 3q13.31 126451 DRD3, ETM1, FET1 Dopamine receptor D3 DRD3 1814 ENSG00000151577 {Essential tremor, hereditary, 1}, 190300 (3), Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant Drd3 (MGI:94925)
chr3 114234630 114237577 3p12-qter 3q13.31 194553 ZNF80 Zinc finger protein-80 (pT17) ZNF80 7634 ENSG00000174255
chr3 114291101 114329746 3q13.3 3q13.31 612859 TIGIT T-cell immunoreceptor with immunoglobulin and ITIM domains TIGIT 201633 ENSG00000181847 Tigit (MGI:3642260)
chr3 114314499 115147279 3q13.2 3q13.31 606025 ZBTB20, ZNF288, DPZF, PRIMS Zinc finger and BTB-domain containing 20 ZBTB20 26137 ENSG00000181722 Primrose syndrome, 259050 (3), Autosomal dominant Zbtb20 (MGI:1929213)
chr3 115623303 115721486 3q13 3q13.31 162060 GAP43 Neuron growth-associated protein 43 GAP43 2596 ENSG00000172020 Gap43 (MGI:95639)
chr3 115802362 116445537 3q13.2-q21 3q13.31 603241 LSAMP, LAMP Limbic system-associated membrane protein LSAMP 4045 ENSG00000185565 Lsamp (MGI:1261760)
chr3 116709787 116717039 3q13.31 3q13.31 616057 TUSC7, LSAMPAS3, LOC285194 Tumor suppressor candidate 7, noncoding TUSC7 285194
chr3 119173577 119205152 3q13.3-q21 3q13.32 602380 UPK1B Uroplakin 1B UPK1B 7348 ENSG00000114638 Upk1b (MGI:98912)
chr3 119211741 119240906 3q13.3 3q13.32 604015 B4GALT4 Beta-1,4-galactosyltransferase 4 B4GALT4 8702 ENSG00000121578 B4galt4 (MGI:1928387)
chr3 119294288 119419475 3q13.3 3q13.32-q13.33 610911 ARHGAP31, CDGAP, KIAA1204, AOS1 Rho GTPase-activating protein 31 ARHGAP31 57514 ENSG00000031081 Adams-Oliver syndrome 1, 100300 (3), Autosomal dominant Arhgap31 (MGI:1333857)
chr3 119468937 119494707 3q13.33 3q13.33 615618 POGLUT1, CLP46, KTELC1, RUMI, C3orf9, DDD4, LGMD2Z Protein O-glucosyltransferase 1 POGLUT1 56983 ENSG00000163389 mutation identified in 1 LGMD2Z family Dowling-Degos disease 4, 615696 (3), Autosomal dominant; ?Muscular dystrophy, limb-girdle, type 2Z, 617232 (3), Autosomal recessive Poglut1 (MGI:2444232)
chr3 119498520 119524280 3q13.33 3q13.33 615534 TIMMDC1, C3orf1 Translocase of inner mitochondrial membrane domain-containing protein 1 TIMMDC1 51300 ENSG00000113845 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Timmdc1 (MGI:1922139)
chr3 119523908 119559633 3q21 3q13.33 112203 CD80, CD28LG, LAB7 CD80 antigen (CD28 antigen ligand 1, B7-1 antigen) CD80 941 ENSG00000121594 Cd80 (MGI:101775)
chr3 119579432 119589953 3q13.33 3q13.33 603081 ADPRH ADP-ribosylarginine hydrolase ADPRH 141 ENSG00000144843 Adprh (MGI:1098234)
chr3 119597847 119629810 3q13.2-q13.3 3q13.33 607460 PLA1A, PSPLA1 Phosphatidylserine-specific phospholipase A1-alpha PLA1A 51365 ENSG00000144837 Pla1a (MGI:1934677)
chr3 119642051 119660589 3q13.3 3q13.33 605823 POPDC2, POP2 Popeye domain-containing protein 2 POPDC2 64091 ENSG00000121577 Popdc2 (MGI:1930150)
chr3 119669524 119677395 3q 3q13.33 604813 COX17 Cytochrome c oxidase assembly protein COX17 COX17 10063 ENSG00000138495 pseudogene on chr. 13? Cox17 (MGI:1333806)
chr3 119703021 119767101 3q13.3-q21.1 3q13.33 609910 MAATS1, AAT1, C3orf15 MYCBP-associated testis-expressed protein 1 MAATS1 89876 ENSG00000183833 Maats1 (MGI:2443598)
chr3 119780483 119818484 3q13-q21 3q13.33 603065 NR1I2, PXR, SXR, PARq Nuclear receptor subfamily 1, group I, member 2 NR1I2 8856 ENSG00000144852 Nr1i2 (MGI:1337040)
chr3 119821320 120095822 3q13.3 3q13.33 605004 GSK3B Glycogen synthase kinase 3-beta GSK3B 2932 ENSG00000082701 Gsk3b (MGI:1861437)
chr3 120165480 120285073 3q13.33 3q13.33 610464 GPR156, GABABL G protein-coupled receptor 156 GPR156 165829 ENSG00000175697 Gpr156 (MGI:2653880)
chr3 120394213 120451070 3q13.3 3q13.33 605547 FSTL1, FRP, MIR198 Follistatin-like 1 FSTL1 11167 ENSG00000163430 FSTL1 mRNA can encode a protein or produce an micoRNA Fstl1 (MGI:102793)
chr3 120596280 120602410 3q13.33 3q13.33 603840 NDUFB4 NADH-ubiquinone oxidoreductase 1 beta subcomplex, 4 NDUFB4 4710 ENSG00000065518 Gm3244,Gm3873,Ndufb4 (MGI:3781422,MGI:3782046,MGI:1915444)
chr3 120628167 120682570 3q13.33 3q13.33 607474 HGD, AKU Homogentisate 1,2-dioxygenase (homogentisate oxidase) HGD 3081 ENSG00000113924 Alkaptonuria, 203500 (3), Autosomal recessive Hgd (MGI:96078)
chr3 120742710 120783133 3q13.33 3q13.33 189962 GTF2E1, TF2E1 General transcription factor IIE, polypeptide 1 GTF2E1 2960 ENSG00000153767 Gtf2e1 (MGI:1921447)
chr3 120908202 121424760 3q13.3 3q13.33 609381 STXBP5L, LLGL4 Syntaxin-binding protein 5-like STXBP5L 9515 ENSG00000145087 Stxbp5l (MGI:2443815)
chr3 121431419 121546005 3q13.3 3q13.33 604419 POLQ Polymerase, DNA, theta POLQ 10721 ENSG00000051341 Polq (MGI:2155399)
chr3 121567930 121590621 3q13.3 3q13.33 611164 ARGFX Arginine-fifty homeobox ARGFX 503582 ENSG00000186103 pseudogenes on 5q23.2 and 17q11.2
chr3 121593322 121630291 3q21.1 3q13.33 609107 FBXO40, FBX40, KIAA1195 F-box only protein 40 FBXO40 51725 ENSG00000163833 Fbxo40 (MGI:2443753)
chr3 121631397 121660947 3q13 3q13.33 601306 HCLS1 Hematopoietic cell-specific Lyn substrate 1 HCLS1 3059 ENSG00000180353 Hcls1 (MGI:104568)
chr3 121663198 121751168 3q13 3q13.33 602500 GOLGB1, GCP372 Golgi autoantigen, golgin subfamily B, 1 GOLGB1 2804 ENSG00000173230 Golgb1 (MGI:1099447)
chr3 121769760 121835078 3q13.33 3q13.33 609237 IQCB1, NPHP5, KIAA0036 IQ motif-containing protein B1 IQCB1 9657 ENSG00000173226 Senior-Loken syndrome 5, 609254 (3), Autosomal recessive Iqcb1 (MGI:2443764)
chr3 121835179 121886525 3q13.33 3q13.33 607659 EAF2 ELL-associated factor 2 EAF2 55840 ENSG00000145088 Eaf2 (MGI:2146616)
chr3 121894323 121944186 3q13.33 3q13.33 602339 SLC15A2, PEPT2 Solute carrier family 15 (H+/peptide transporter), member 2 SLC15A2 6565 ENSG00000163406 Slc15a2 (MGI:1890457)
chr3 121987322 122060553 3q21.1 3q13.33 609739 ILDR1, DFNB42 Immunoglobulin-like domain-containing receptor 1 ILDR1 286676 ENSG00000145103 Deafness, autosomal recessive 42, 609646 (3), Autosomal recessive Ildr1 (MGI:2146574)
chr3 122055361 122121142 3q21 3q13.33 601020 CD86, CD28LG2, LAB72 CD86 antigen (CD28 antigen ligand 2, B7-2 antigen) CD86 942 ENSG00000114013 Cd86 (MGI:101773)
chr3 122183682 122286502 3q21.1 3q13.3-q21.1 601199 CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1 Calcium-sensing receptor CASR 846 ENSG00000036828 15cM from RHO {Calcium, serum level of} (3); {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3); Hypercalciuric hypercalcemia (3); Hyperparathyroidism, neonatal, 239200 (3), Autosomal recessive, Autosomal dominant; Hypocalcemia, autosomal dominant, 601198 (3), Autosomal dominant; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3), Autosomal dominant; Hypocalciuric hypercalcemia, type I, 145980 (3), Autosomal dominant Casr (MGI:1351351)
chr3 122200000 129500000 3q21 603165 ATOD1 Dermatitis, atopic, 1 64069 max lod at D3S3606 {Dermatitis, atopic, susceptibility to, 1}, 603165 (2), Autosomal dominant
chr3 122200000 155300000 3q21-q25.2 614011 ERVK-4, HERV-KI Endogenous retrovirus group K, member 4 ERVK-4 60359
chr3 122200000 129500000 3q21 613460 FGQTL6, BWQTL3, PGQTL1 Fasting plasma glucose level QTL 6; Birth weight QTL 3; Plasma glucose, 2-hour, QTL 1 100499168 associated with rs11708067 and rs11708067 [Birth weight QTL 3], 613460 (2); [Fasting plasma glucose level QTL 6], 613460 (2); [Plasma glucose, 2-hour, QTL 1], 613460 (2)
chr3 122200000 149200000 3q21-q24 601682 GLC1C Glaucoma 1, open angle, C GLC1C 2723 Glaucoma 1C, primary open angle, 601682 (2), Autosomal dominant
chr3 122200000 139000000 3q21-q22 601471 HCFP1, MBS2 Facial paresis, hereditary congenital, 1 MBS2 7880 Facial paresis, hereditary congenital, 1, 601471 (2), Autosomal dominant
chr3 122200000 129500000 3q21 604316 PSORS5 Psoriasis susceptibility 5 PSORS5 63870 {Psoriasis susceptibility 5}, 604316 (2)
chr3 122325163 122341968 3q21 3q21.1 184600 CSTA, STFA, STF1, AREI, PSS4 Cystatin A (stefin A) CSTA 1475 ENSG00000121552 Peeling skin syndrome 4, 607936 (3), Autosomal recessive Gm5483,2010005H15Rik,Csta1 (MGI:3524930,MGI:1924020,MGI:3645124)
chr3 122384175 122410113 3q21.1 3q21.1 608017 C3orf28, E2IG5 E2-induced gene 5 FAM162A 26355 ENSG00000114023 Fam162a (MGI:1917436)
chr3 122421900 122514938 3q21 3q21.1 600686 KPNA1, RCH2, SRP1 Karyopherin, alpha-1 KPNA1 3836 ENSG00000114030 Kpna1 (MGI:103560)
chr3 122527909 122564675 3q21 3q21.1 612065 PARP9, BAL1, BAL Poly(ADP-ribose) polymerase 9 PARP9 83666 ENSG00000138496 Parp9 (MGI:1933117)
chr3 122564337 122575202 3q21 3q21.1 613143 DTX3L, BBAP DTX3-like DTX3L 151636 ENSG00000163840 head-to-head with PARP9 Dtx3l (MGI:2656973)
chr3 122575925 122639046 3q21 3q21.1 612066 PARP15, BAL3 Poly(ADP-ribose) polymerase 15 PARP15 165631 ENSG00000173200
chr3 122680725 122730839 3q21.1 3q21.1 610028 PARP14, KIAA1268 Poly(ADP-ribose) polymerase 14 PARP14 54625 ENSG00000173193 Parp14 (MGI:1919489)
chr3 122795053 122892156 3q21 3q21.1 602773 DIRC2, RCC4 Disrupted in renal carcinoma 2 DIRC2 84925 ENSG00000138463 t(2;3)(q35;q21) in renal cell carcinoma Renal cell carcinoma, 144700 (1) Dirc2 (MGI:2387188)
chr3 123067008 123162105 3q21.1 3q21.1 616942 PDIA5, PDIR Protein disulfide isomerase, family A, member 5 PDIA5 10954 ENSG00000065485 Pdia5 (MGI:1919849)
chr3 123201926 123274135 3q21.1 3q21.1 612442 SEC22A, SEC22L2 Secretion deficient 22, S. cerevisiae, homolog of, A SEC22A 26984 ENSG00000121542 Sec22a (MGI:2447876)
chr3 123282295 123448987 3q13.2-q21 3q21.1 600293 ADCY5, FDFM Adenylate cyclase-5 ADCY5 111 ENSG00000173175 Dyskinesia, familial, with facial myokymia, 606703 (3), Autosomal dominant Adcy5 (MGI:99673)
chr3 123491547 123585184 3q21.1 3q21.1 615939 PTPLB, HACD2 Protein tyrosine phosphatase-like (proline instead of catalytic arginine), member B HACD2 201562 ENSG00000206527 Hacd2 (MGI:1918007)
chr3 123612295 123884301 3q21 3q21.1 600922 MYLK, MLCK, AAT7 Myosin-light-polypeptide kinase MYLK 4638 ENSG00000065534 pseudogene on 3p13 Aortic aneurysm, familial thoracic 7, 613780 (3), Autosomal dominant Mylk (MGI:894806)
chr3 123887382 123961411 3q21.1 3q21.1 617147 CCDC14 Coiled-coil domain-containing protein 14 CCDC14 64770 ENSG00000175455 Ccdc14 (MGI:2443448)
chr3 123969005 123992169 3q21.1 3q21.1 611757 ROPN1, ODF6 Rhophilin-associated tail protein 1 ROPN1 54763 ENSG00000065371 Ropn1 (MGI:1923628)
chr3 124033340 124726324 3q13 3q21.1-q21.2 604605 KALRN, HAPIP, DUO, CHDS5 Kalirin KALRN 8997 ENSG00000160145 {Coronary heart disease, susceptibility to, 5}, 608901 (3) Kalrn (MGI:2685385)
chr3 124730365 124749272 3q13 3q21.2 613891 UMPS, OPRT Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) UMPS 7372 ENSG00000114491 Orotic aciduria, 258900 (3), Autosomal recessive Umps (MGI:1298388)
chr3 124761947 124901410 3q21.2 3q21.2 147561 ITGB5 Integrin, beta-5 ITGB5 3693 ENSG00000082781 Itgb5 (MGI:96614)
chr3 124905441 124934750 3q13.3 3q21.2 612181 MUC13 Mucin 13, cell surface-associated MUC13 56667 ENSG00000173702 Muc13 (MGI:103190)
chr3 124965709 125055957 3q21.2 3q21.2 614182 HEG1, KIAA1237 Heart of glass, zebrafish, homolog of, 1 HEG1 57493 ENSG00000173706 Heg1 (MGI:1924696)
chr3 125225668 125375353 3q21 3q21.2 601897 ZNF148, ZFP148, GDACCF Zinc finger protein-148 ZNF148 7707 ENSG00000163848 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3), Autosomal dominant Zfp148 (MGI:1332234)
chr3 125446643 125520213 3q21.2 3q21.2 605931 SNX4 Sorting nexin 4 SNX4 8723 ENSG00000114520 Snx4 (MGI:1916400)
chr3 125528857 125595536 3q21.1 3q21.2 606739 OSBPL11, ORP11 Oxysterol-binding protein-like protein 11 OSBPL11 114885 ENSG00000144909 previously assigned to chr.8 Osbpl11 (MGI:2146553)
chr3 126006356 126101549 3q21.2 3q21.2-q21.3 610803 SLC41A3 Solute carrier family 41, member 3 SLC41A3 54946 ENSG00000114544 Slc41a3 (MGI:1918949)
chr3 126103560 126197757 3q21.3 3q21.3 600249 ALDH1L1, FTHFD Aldehyde dehydrogenase 1 family, member L1 ALDH1L1 10840 ENSG00000144908 Aldh1l1 (MGI:1340024)
chr3 126288120 126357392 3q21-q22 3q21.3 606465 KLF15, KKLF Kruppel-like factor 15 KLF15 28999 ENSG00000163884 Klf15 (MGI:1929988)
chr3 126437347 126475937 3q21.3 3q21.3 615746 ZXDC ZCD family zinc finger protein C ZXDC 79364 ENSG00000070476 Zxdc (MGI:1933108)
chr3 126481164 126517772 3q21.3 3q21.3 613012 UROC1, UROCD Urocanase domain-containing protein 1 UROC1 131669 ENSG00000159650 mutation identified in 1 UROCD patient ?Urocanase deficiency, 276880 (3), Autosomal recessive Uroc1 (MGI:2385332)
chr3 126524287 126543290 3p21.3 3q21.3 610124 CHST13, C4ST3 Carbohydrate sulfotransferase 13 CHST13 166012 ENSG00000180767 Chst13 (MGI:1919047)
chr3 126607051 126655123 3q21 3q21.3 606235 TXNRD3, TRXR3, TR2 Thioredoxin reductase 3 TXNRD3 114112 ENSG00000197763 Txnrd3 (MGI:2386711)
chr3 126704219 126960419 3q21.3 3q21.3 615634 CHCHD6, CHCM1 Coiled-coil-helix-coiled-coil-helix domain-containing protein 6 CHCHD6 84303 ENSG00000159685 Chchd6 (MGI:1913348)
chr3 126983258 127037391 3q21-qter 3q21.3 601055 PLXNA1, NOVP, NOV, PLXN1 Plexin A1 (NOV transmembrane protein) PLXNA1 5361 ENSG00000114554 Plxna1 (MGI:107685)
chr3 127598356 127622435 3q21 3q21.3 116945 MCM2, CDCL1, DFNA70 Minichromosome maintenance deficient, S. cerevisiae, 2, homolog of (mitotin) MCM2 4171 ENSG00000073111 mutation identified in 1 DFNA70 family ?Deafness, autosomal dominant 70, 616968 (3), Autosomal dominant Mcm2 (MGI:105380)
chr3 127629158 127672809 3q21.3 3q21.3 616627 PODXL2, EG Podocalyxin-like 2 PODXL2 50512 ENSG00000114631 Podxl2 (MGI:2442488)
chr3 127672927 127680925 3q21 3q21.3 608308 ABTB1, BPOZ Ankyrin repeat and BTB/POZ domain containing 1 ABTB1 80325 ENSG00000114626 Abtb1 (MGI:1933148)
chr3 127689061 127823249 3p21.3 3q21.3 609699 MGLL, MGL, HUK5 Monoglyceride lipase MGLL 11343 ENSG00000074416 Mgll (MGI:1346042)
chr3 128052368 128071682 3q21.3 3q21.3 609213 SEC61A1, SEC61, HNFJ4 Sec61 complex, alpha-1 subunit SEC61A1 29927 ENSG00000058262 Hyperuricemic nephropathy, familial juvenile, 4, 617056 (3), Autosomal dominant Sec61a1 (MGI:1858417)
chr3 128064610 128153913 3q21 3q21.3 603449 RUVBL1, NMP238, TIP49 RUVB, E. coli, homolog-like 1 RUVBL1 8607 ENSG00000175792 Ruvbl1 (MGI:1928760)
chr3 128153452 128426192 3q21.3 3q21.3 607695 EEFSEC, SELB, EFSEC Eukaryotic elongation factor, selenocysteine-tRNA-specific EEFSEC 60678 ENSG00000132394 Eefsec (MGI:2137092)
chr3 128462431 128467247 3q21.3 3q21.3 611337 DNAJB8, DJ6 DNAJ/HSP40 homolog, subfamily B, member 8 DNAJB8 165721 ENSG00000179407 Dnajb8 (MGI:1922801)
chr3 128479421 128493186 3q21 3q21.3 137295 GATA2, DCML, MONOMAC, IMD21 GATA-binding protein-2 GATA2 2624 ENSG00000179348 Emberger syndrome, 614038 (3), Autosomal dominant; Immunodeficiency 21, 614172 (3), Autosomal dominant; {Leukemia, acute myeloid, susceptibility to}, 601626 (3), Autosomal dominant; {Myelodysplastic syndrome, susceptibility to}, 614286 (3) Gata2 (MGI:95662)
chr3 128619969 128650875 3q 3q21.3 180470 RPN1 Ribophorin I RPN1 6184 ENSG00000163902 Rpn1 (MGI:98084)
chr3 128726135 128814797 3q21 3q21.3 602298 RAB7, CMT2B, PSN Ras-associated protein RAB7 RAB7A 7879 ENSG00000075785 Charcot-Marie-Tooth disease, type 2B, 600882 (3), Autosomal dominant Rab7 (MGI:105068)
chr3 128879489 128913113 3q26 3q21.3 611103 ACAD9 Acyl-CoA dehydrogenase family, member 9 ACAD9 28976 ENSG00000177646 Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3), Autosomal recessive Acad9 (MGI:1914272)
chr3 129055448 129062410 3q21 3q21.3 173515 GP9 Glycoprotein IX, platelet GP9 2815 ENSG00000169704 Bernard-Soulier syndrome, type C, 231200 (3), Autosomal recessive Gp9 (MGI:1860137)
chr3 129127415 129161229 3q21.3 3q21.3 612764 ISY1, KIAA1160 ISY1 splicing factor, S. cerevisiae, homolog of ISY1 57461 ENSG00000240682
chr3 129167814 129183966 3q13.3-q24 3q21.3 116955 ZNF9, CNBP1, DM2, PROMM Zinc finger protein-9 (a cellular retroviral nucleic acid-binding protein) CNBP 7555 ENSG00000169714 Myotonic dystrophy 2, 602668 (3), Autosomal dominant Cnbp (MGI:88431)
chr3 129249574 129277772 3q21.3 3q21.3 615525 COPG1 Coatomer protein complex, subunit gamma-1 COPG1 22820 ENSG00000181789 Copg1 (MGI:1858696)
chr3 129314770 129316276 3q21.3 3q21.3 602785 H1FX, H1X H1 histone family, member X H1FX 8971 ENSG00000184897 H1fx (MGI:2685307)
chr3 129430943 129440178 3q21-q22 3q21.3 603574 MBD4, MED1 Methyl-CpG-binding domain protein 4 MBD4 8930 ENSG00000129071 Mbd4 (MGI:1333850)
chr3 129440035 129520506 3q21 3q21.3-q22.1 606045 IFT122, WDR10, CED1 Intraflagellar transport 122, homolog of IFT122 55764 ENSG00000163913 Cranioectodermal dysplasia 1, 218330 (3), Autosomal recessive Ift122 (MGI:1932386)
chr3 129500000 149200000 3q22-q24 611155 AD15 Alzheimer disease 15 100188838 max lod at D3S1579 {Alzheimer disease-15}, 611155 (2)
chr3 129500000 139000000 3q22 606012 DFNA18 Deafness, autosomal dominant 18 DFNA18 85507 Deafness, autosomal dominant 18, 606012 (2), Autosomal dominant
chr3 129500000 149200000 3q22-q24 220200 DWS, C3DELq22q24, DEL3q22q24 Dandy-Walker syndrome DWS 1858 ZIC1 and ZIC4 good candidate genes Dandy-Walker syndrome, 220200 (4), Isolated cases
chr3 129500000 149200000 3q22-q24 608787 OTSC5 Otosclerosis 5 OTSC5 317682 max lod at D3S1569 Otosclerosis 5, 608787 (2)
chr3 129500000 161000000 3q22-q25 173865 PABPL1 Polyadenylate-binding protein-like 1
chr3 129500000 139000000 3q22 616361 PARK21 Parkinson disease 21 108353827 conflicting mapping on 20pter-p12 Parkinson disease 21, 616361 (2), Autosomal dominant
chr3 129500000 139000000 3q22 606995 SLSN3 Senior-Loken syndrome 3 260432 ?allelic with NPHP3 Senior-Loken syndrome 3, 606995 (2), Autosomal recessive
chr3 129528638 129535343 3q21-q24 3q22.1 180380 RHO, RP4, OPN2, CSNBAD1 Rhodopsin (opsin 2) RHO 6010 ENSG00000163914 Night blindness, congenital stationary, autosomal dominant 1, 610445 (3); Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3), Autosomal recessive, Autosomal dominant; Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant Rho (MGI:97914)
chr3 129555212 129606738 3q22 3q22.1 604282 PLXND1 Plexin D1 PLXND1 23129 ENSG00000004399 Plxnd1 (MGI:2154244)
chr3 129647791 129893602 3q22.1 3q22.1 616242 TMCC1, KIAA0779 Transmembrane and coiled-coil domain family 1 TMCC1 23023 ENSG00000172765 Tmcc1 (MGI:2442368)
chr3 129974392 129977937 3q13.3-q21 3q22.1 613879 TRH Thyrotropin-releasing hormone TRH 7200 ENSG00000170893 Thyrotropin-releasing hormone deficiency, 275120 (1), Autosomal recessive Trh (MGI:98823)
chr3 130212819 130273805 3q21 3q22.1 616612 COL6A4P2 Collagen, type VI, alpha-4, pseudogene 2 COL6A4P2 646300
chr3 130345515 130484845 3q21 3q22.1 611916 COL6A5, COL29A1 Collagen, type VI, alpha-5 COL6A5 256076 ENSG00000172752 Col6a5 (MGI:3648134)
chr3 130516708 130678136 3q21 3q22.1 616613 COL6A6 Collagen, type VI, alpha-6 COL6A6 131873 ENSG00000206384 Col6a6 (MGI:2444259)
chr3 130678933 130746851 3q22.1 3q22.1 602610 PIK3R4 Phosphatidylinositol 3-kinase, regulatory subunit 4 PIK3R4 30849 ENSG00000196455 Pik3r4 (MGI:1922919)
chr3 130850499 131016711 3q21-q24 3q22.1 604384 ATP2C1, BCPM, HHD ATPase, Ca(2+)-sequestering ATP2C1 27032 ENSG00000017260 Hailey-Hailey disease, 169600 (3), Autosomal dominant Atp2c1 (MGI:1889008)
chr3 131026849 131350464 3q21-q22 3q22.1 609779 NEK11 Never in mitosis gene A-related kinase 11 NEK11 79858 ENSG00000114670 Nek11 (MGI:2442276)
chr3 131381670 131388829 3q22.1 3q22.1 617381 NUDT16 Nudix hydrolase 16 NUDT16 131870 ENSG00000198585 Nudt16 (MGI:1922936)
chr3 131462200 131503015 3q22.1 3q22.1 607118 MRPL3, MRL3, COXPD9 Mitochondrial ribosomal protein L3 MRPL3 11222 ENSG00000114686 Combined oxidative phosphorylation deficiency 9, 614582 (3), Autosomal recessive Mrpl3 (MGI:2137204)
chr3 131533559 132285695 3q22.1 3q22.1 604208 CPNE4, CPN4 Copine IV CPNE4 131034 ENSG00000196353 Cpne4 (MGI:1921270)
chr3 132317366 132368764 3q21-q23 3q22.1 171790 ACPP Acid phosphatase, prostate ACPP 55 ENSG00000014257 Acpp (MGI:1928480)
chr3 132417659 132539031 3q22.1 3q22.1 614334 DNAJC13, RME8, KIAA0678 DNAJ/HSP40 homolog, subfamily C, member 13 DNAJC13 23317 ENSG00000138246 Dnajc13 (MGI:2676368)
chr3 132558137 132660130 3q22.1 3q22.1 614288 ACAD11 Acyl-CoA dehydrogenase family, member 11 ACAD11 84129 ENSG00000240303 Acad11 (MGI:2143169)
chr3 132597236 132602643 3q22 3q22.1 606065 ACKR4, CCRL1, PPR1 Atypical chemokine receptor 4 ACKR4 51554 ENSG00000129048 Ackr4 (MGI:2181676)
chr3 132654445 132679785 3q22 3q22.1 610552 UBA5, UBE1DC1, EIEE44, SCAR24 Ubiquitin-like modifier activating enzyme 5 UBA5 79876 ENSG00000081307 mutation identified in 1 SCAR24 family Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive; ?Spinocerebellar ataxia, autosomal recessive 24, 617133 (3), Autosomal recessive Uba5 (MGI:1913913)
chr3 132680608 132722458 3q22 3q22.1 608002 NPHP3, NPH3, RHPD1, MKS7 Nephrocystin 3 NPHP3 27031 ENSG00000113971 Meckel syndrome 7, 267010 (3), Autosomal recessive; Nephronophthisis 3, 604387 (3), Autosomal recessive; Renal-hepatic-pancreatic dysplasia 1, 208540 (3), Autosomal recessive Nphp3 (MGI:1921275)
chr3 133038287 133397774 3q22.1 3q22.1 617361 TMEM108, RTLN, KIAA1690 Transmembrane protein 108 TMEM108 66000 ENSG00000144868 Tmem108 (MGI:1932411)
chr3 133397881 133475211 3q21-q25 3q22.1 603212 BFSP2, CP49, CP47, CTRCT12 Beaded filament structural protein 2 (cytoskeletal protein, 49 kD) BFSP2 8419 ENSG00000170819 Cataract 12, multiple types, 611597 (3), Autosomal dominant Bfsp2 (MGI:1333828)
chr3 133600604 133661967 3q22.1 3q22.1 607760 TOPBP1, KIAA0259 DNA topoisomerase II-binding protein 1 TOPBP1 11073 ENSG00000163781 Topbp1 (MGI:1920018)
chr3 133661985 133779005 3q21 3q22.1 190000 TF, TFQTL1 Transferrin TF 7018 ENSG00000091513 Atransferrinemia, 209300 (3), Autosomal recessive Trf (MGI:98821)
chr3 133784032 133821491 3q22.1 3q22.1 616883 SRPRB, APMCF1 Signal recognition particle receptor, beta subunit SRPRB 58477 ENSG00000144867 Srprb (MGI:102964)
chr3 133824234 133895846 3q22.1 3q22.1 615852 RAB6B Ras-associated protein RAB6B RAB6B 51560 ENSG00000154917 Rab6b (MGI:107283)
chr3 133932695 134030075 3q21 3q22.1-q22.2 601460 SLCO2A1, OATP2A1, PGT, SLC21A2, PHOAR2 Solute carrier organic anion transporter family, member 2A1 SLCO2A1 6578 ENSG00000174640 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3), Autosomal recessive Slco2a1 (MGI:1346021)
chr3 134157132 134250833 3q22.2 3q22.2 600524 RYK, RYK1 RYK receptor-like tyrosine kinase RYK 6259 ENSG00000163785 Ryk (MGI:101766)
chr3 134355344 134375416 3q22.2 3q22.2 614658 AMOTL2, KIAA0989 Angiomotin-like 2 AMOTL2 51421 ENSG00000114019 Amotl2 (MGI:1929286)
chr3 134477703 134486022 3q22.2 3q22.2 614484 ANAPC13, APC13, SWM1 Anaphase-promoting complex, subunit 13 ANAPC13 25847 ENSG00000129055 Anapc13 (MGI:1916260)
chr3 134485723 134783168 3q22.2 3q22.2 614724 CEP63, SCKL6 Centrosomal protein, 63kD CEP63 80254 ENSG00000182923 mutation identified in 1 family ?Seckel syndrome 6, 614728 (3), Autosomal recessive Cep63 (MGI:2158560)
chr3 134595263 135260466 3q21-q23 3q22.2 600600 EPHB1, EPHT2, NET eph tyrosine kinase 2 (ephrin receptor EphB1) EPHB1 2047 ENSG00000154928 Ephb1 (MGI:1096337)
chr3 134599922 134656052 3q21 3q22.2 605739 KY, MFM7 Kyphoscoliosis peptidase KY 339855 ENSG00000174611 Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive Ky (MGI:96709)
chr3 135965672 136149614 3q22 3q22.2-q22.3 604944 PP2R3A, PR72, PR130 Protein phosphatase 2, regulatory subunit B'', alpha PPP2R3A 5523 ENSG00000073711 Ppp2r3a (MGI:2442104)
chr3 136148917 136197299 3q22.3 3q22.3 614802 MSL2, KIAA1585 Male-specific lethal 2, Drosophila, homolog of MSL2 55167 ENSG00000174579 Msl2 (MGI:1925103)
chr3 136250324 136330170 3q21-q22 3q22.3 232050 PCCB Propionyl Coenzyme A carboxylase, beta polypeptide PCCB 5096 ENSG00000114054 pccB complementation group Propionicacidemia, 606054 (3), Autosomal recessive Pccb (MGI:1914154)
chr3 136336234 136752411 3q22.3 3q22.3 604358 STAG1, MRD47 Stromal antigen 1 STAG1 10274 ENSG00000118007 Mental retardation, autosomal dominant 47, 617635 (3), Autosomal dominant Stag1 (MGI:1098658)
chr3 136819018 136855891 3q22.3 3q22.3 617812 SLC35G2, TMEM22 Solute carrier family 35, member G2 SLC35G2 80723 ENSG00000168917 Slc35g2 (MGI:2685365)
chr3 136862207 136951609 3q21 3q22.3 600508 NCK Non-catalytic region of tyrosine kinase NCK1 4690 ENSG00000158092 Nck1 (MGI:109601)
chr3 137764291 137766333 3q23 3q22.3 604747 SOX14 SRY-box 14 SOX14 8403 ENSG00000168875 Sox14 (MGI:98362)
chr3 138061984 138115861 3q22.3 3q22.3 617570 DZIP1L, DZIP2, PKD5 DAZ-interacting zinc finger protein 1-like DZIP1L 199221 ENSG00000158163 Polycystic kidney disease 5, 617610 (3), Autosomal recessive Dzip1l (MGI:1919757)
chr3 138123717 138133309 3p14.3 3q22.3 616709 A4GNT Alpha-1,4-N-acetylglucosaminyltransferase A4GNT 51146 ENSG00000118017 A4gnt (MGI:2143261)
chr3 138160987 138174948 3q22.3 3q22.3 607024 DBR1 Debranching enzyme 1, S. cerevisiae, homolog of DBR1 51163 ENSG00000138231 Dbr1 (MGI:1931520)
chr3 138347647 138405534 3q22.3 3q22.3 608435 MRAS, RRAS3 Muscle Ras viral oncogene homolog MRAS 22808 ENSG00000158186 Mras (MGI:1100856)
chr3 138434572 138479941 3q22.3 3q22.3 616692 ESYT3, FAM62C Extended synaptotagmin-like protein 3 ESYT3 83850 ENSG00000158220 Esyt3 (MGI:1098699)
chr3 138494338 138594382 3q22.3 3q22.3 614310 CEP70 Centrosomal protein, 70kD CEP70 80321 ENSG00000114107 Cep70 (MGI:1915371)
chr3 138608098 138633375 3q22 3q22.3 617535 FAIM Fax apoptotic inhibitory molecule FAIM 55179 ENSG00000158234 Faim (MGI:1344387)
chr3 138652697 138834937 3q22.3 3q22.3 602925 PIK3CB, PI3KCB Phosphatidylinositol 3-kinase, catalytic, beta PIK3CB 5291 ENSG00000051382 Pik3cb (MGI:1922019)
chr3 138944223 138947139 3q23 3q22.3 605597 FOXL2, BPES, BPES1, PFRK, POF3 Forkhead transcription factor FOXL2 FOXL2 668 ENSG00000183770 Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3), Autosomal dominant; Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3), Autosomal dominant; Premature ovarian failure 3, 608996 (3), Autosomal dominant Foxl2 (MGI:1349428)
chr3 139000000 143100000 3q23 612221 STQTL10 Stature quantitative trait locus 10 100270794 associated with rs6440003 {Stature QTL 10}, 612221 (2)
chr3 139344013 139357128 3q23 3q23 605810 MRPS22, C3orf5, COXPD5 Mitochondrial ribosomal protein S22 MRPS22 56945 ENSG00000175110 Combined oxidative phosphorylation deficiency 5, 611719 (3), Autosomal recessive Mrps22 (MGI:1928137)
chr3 139355594 139389679 3q23 3q23 606990 COPB2, MCPH19 Coatomer protein complex, subunit beta-2 COPB2 9276 ENSG00000184432 mutation identified in 1 MCPH19 family ?Microcephaly 19, primary, autosomal recessive, 617800 (3), Autosomal recessive Copb2 (MGI:1354962)
chr3 139452883 139476509 3q21-qter 3q23 180280 RBP2, CRBP2 Retinol-binding protein-2, cellular RBP2 5948 ENSG00000114113 close to CRBP1 Rbp2 (MGI:97877)
chr3 139517433 139539828 3q21-q22 3q23 180260 RBP1, CRBP1 Retinol-binding protein-1, cellular RBP1 5947 ENSG00000114115 close to CRBP2 Rbp1 (MGI:97876)
chr3 139560179 139678049 3q23 3q23 608702 NMNAT3, PNAT3 Nicotinamide nucleotide adenylyltransferase 3 NMNAT3 349565 ENSG00000163864
chr3 139935184 140577396 3q23 3q23 611323 CLSTN2 Calsyntenin 2 CLSTN2 64084 ENSG00000158258 Clstn2 (MGI:1929897)
chr3 140941819 140979942 3q23 3q23 616149 SLC25A36, PNC2 Solute carrier family 25 (mitochondrial carrier, pyrimidine nucleotide transporter), member 36 SLC25A36 55186 ENSG00000114120 Slc25a36 (MGI:1924909)
chr3 141051401 141148610 3q23 3q23 611660 SPSB4, SSB4 SPRY domain- and SOCS box-containing 4 SPSB4 92369 ENSG00000175093 Spsb4 (MGI:2183445)
chr3 141324212 141449791 3q23 3q23 612218 ZBTB38 Zinc finger- and BTB domain-containing protein 38 ZBTB38 253461 ENSG00000177311 Zbtb38 (MGI:2442866)
chr3 141487046 141615362 3q22-q23 3q23 601589 RASA2, GAP1M RAS p21 protein activator 2 RASA2 5922 ENSG00000155903 Rasa2 (MGI:2149960)
chr3 141738208 141746802 3q22-q24 3q23 603863 RNF7, ROC2, SAG RING finger protein-7 (regulator of cullins 2; sensitive to apoptosis gene) RNF7 9616 ENSG00000114125 Rnf7 (MGI:1337096)
chr3 141763123 141818489 3q21-q23 3q23 606987 GRK7, GPRK7 G protein-coupled receptor kinase 7 GRK7 131890 ENSG00000114124
chr3 141876591 141926547 3q22-q23 3q23 601867 ATP1B3 ATPase, Na+/K+ transporting, beta 3 polypeptide ATP1B3 483 ENSG00000069849 Atp1b3 (MGI:107788)
chr3 141944427 142149543 3q23 3q23 602160 TFDP2, DP2 Transcription factor Dp-2 (E2F dimerization partner 2) TFDP2 7029 ENSG00000114126 Tfdp2 (MGI:107167)
chr3 142306606 142448061 3q25-q26.1 3q23 607994 XRN1, SEP1 Exoribonuclease 1 XRN1 54464 ENSG00000114127 Xrn1 (MGI:891964)
chr3 142449234 142578825 3q22-q24 3q23 601215 ATR, FRP1, SCKL1, FCTCS Ataxia-telangiectasia and Rad3-related (FRAP-related protein-1) ATR 545 ENSG00000175054 mutation identified in 1 FCTCS family ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3), Autosomal dominant; Seckel syndrome 1, 210600 (3), Autosomal recessive Atr (MGI:108028)
chr3 142596386 142713663 3q23 3q23 602734 PLS1 Plastin-1 PLS1 5357 ENSG00000120756 Pls1 (MGI:104809)
chr3 142724423 142807887 3q22-q24 3q23 602343 TRPC1, TRP1 Transient receptor potential channel 1 TRPC1 7220 ENSG00000144935 also called Htrp-1 Trpc1 (MGI:109528)
chr3 142817859 142889202 3q21-q24 3q23 607064 PCOLCE2 Procollagen C-endopeptidase enhancer-2 PCOLCE2 26577 ENSG00000163710 Pcolce2 (MGI:1923727)
chr3 142961230 142963335 3q23 3q23 614580 PAQR9 Progestin and ADIPOQ receptor family, member 9 PAQR9 344838 ENSG00000188582 Paqr9 (MGI:1922802)
chr3 143001529 143060724 3q23 3q23 617849 U2SURP, SR140, KIAA0332 U2 small nuclear ribonucleoprotein-associated SURP domain-containing protein U2SURP 23350 ENSG00000163714 U2surp (MGI:1915208)
chr3 143100000 183000000 3q24-q26 610761 HDLCQ5 High density lipoprotein cholesterol level QTL 5 100188818 max lod at D3S3053 [High density lipoprotein cholesterol level QTL 5], 610761 (2)
chr3 143100000 183000000 3q24-q26 606660 UVM1 Melanoma, uveal, susceptibility to, 1 170592 {Melanoma, uveal, susceptibility to, 1}, 606660 (2)
chr3 143119775 143124013 3q24 3q24 603798 CHST2 Carbohydrate sulfotransferase-2 (GlcNAc-6-O-sulfotransferase; N-acetylglucosamine-6-O-sulfotransferase) CHST2 9435 ENSG00000175040 mapped by FISH to 7q31 Chst2 (MGI:1891160)
chr3 143265221 143848530 3q24 3q24 608396 SLC9A9, AUTS16 Solute carrier family 9 (sodium/hydrogen exchanger), member A9 SLC9A9 285195 ENSG00000181804 mutation identified in 1 family {?Autism susceptibility 16}, 613410 (3) Slc9a9 (MGI:2679732)
chr3 143971797 143992367 3q24 3q24 612200 C3orf58, DIA1 Chromosome 3 open reading frame 58 C3orf58 205428 ENSG00000181744 1190002N15Rik (MGI:1916111)
chr3 146069436 146161494 3q23-q24 3q24 601865 PLOD2, LH2, TLH, BRKS2 Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2 PLOD2 5352 ENSG00000152952 Bruck syndrome 2, 609220 (3), Autosomal recessive Plod2 (MGI:1347007)
chr3 146192334 146251178 3q23 3q24 607612 PLSCR4 Phospholipid scramblase 4 PLSCR4 57088 ENSG00000114698 Plscr4 (MGI:2143267)
chr3 146391362 146497162 3q23 3q24 607610 PLSCR2 Phospholipid scramblase 2 PLSCR2 57047 ENSG00000163746
chr3 146515177 146544840 3q23 3q24 604170 PLSCR1, MMTRA1B Phospholipid scramblase 1 PLSCR1 5359 ENSG00000188313 Plscr1 (MGI:893575)
chr3 147386047 147407475 3q24 3q24 608948 ZIC4 Zic family, member 4 ZIC4 84107 ENSG00000174963 Zic4 (MGI:107201)
chr3 147409393 147416718 3q24 3q24 600470 ZIC1, CRS6 Zic family, member 1 ZIC1 7545 ENSG00000152977 Craniosynostosis 6, 616602 (3), Autosomal dominant Zic1 (MGI:106683)
chr3 148697870 148743002 3q21-q25 3q24 106165 AGTR1, AGTR1A, AT2R1 Angiotensin receptor 1 AGTR1 185 ENSG00000144891 {Hypertension, essential}, 145500 (3), Multifactorial; Renal tubular dysgenesis, 267430 (3), Autosomal recessive Agtr1a (MGI:87964)
chr3 148827800 148860186 3q24 3q24 114852 CPB1, PCPB, PASP Carboxypeptidase B1, tissue CPB1 1360 ENSG00000153002 Cpb1 (MGI:1923953)
chr3 148865255 148897090 3q24 3q24 114851 CPA3 Carboxypeptidase A3, mast cell CPA3 1359 ENSG00000163751 Cpa3 (MGI:88479)
chr3 148991407 149027668 3q24-q25.1 3q24 603942 GYG1, GSD15 Glycogenin 1 GYG1 2992 ENSG00000163754 mutation identified in 1 GSD15 patient ?Glycogen storage disease XV, 613507 (3), Autosomal recessive; Polyglucosan body myopathy 2, 616199 (3), Autosomal recessive Gyg (MGI:1351614)
chr3 149030063 149086553 3q25.1-q26.1 3q24 603257 SMARCA3, SNF2L3, HIP116 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3 HLTF 6596 ENSG00000071794 Hltf (MGI:1196437)
chr3 149129583 149173195 3q24 3q24 606118 HPS3 HPS gene 3 HPS3 84343 ENSG00000163755 Hermansky-Pudlak syndrome 3, 614072 (3), Autosomal recessive Hps3 (MGI:2153839)
chr3 149162409 149222044 3q23-q24 3q24-q25 117700 CP Ceruloplasmin CP 1356 ENSG00000047457 ~15cM from TF Cerebellar ataxia, 604290 (3), Autosomal recessive; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3), Autosomal recessive; [Hypoceruloplasminemia, hereditary], 604290 (3), Autosomal recessive Cp (MGI:88476)
chr3 149200000 188200000 3q25-q27 608638 ASPG1 Asperger syndrome, susceptibility to, 1 431710 max lod with D3S3037 {Asperger syndrome susceptibility 1}, 608638 (2), Isolated cases, Multifactorial
chr3 149200000 188200000 3q25-q27 607373 AUTS8 Autism, susceptibility to, 8 282553 {Autism susceptibility 8}, 607373 (2), Isolated cases, Multifactorial
chr3 149200000 183000000 3q25-q26 612008 CELIAC10 Celiac disease, susceptibility to, 10 100188872 associated with rs17810546 {Celiac disease, susceptibility to, 10}, 612008 (2)
chr3 149200000 183000000 3q25-q26 615697 ETL6 Epilepsy, familial temporal lobe, 6 103106902 between D3S1584 and D3S3520 Epilepsy, familial temporal lobe, 6, 615697 (2)
chr3 149369017 149377780 3q21-q25 3q25.1 191155 TM4SF1, M3S1, TAAL6 Transmembrane-4 superfamily, member 1 TM4SF1 4071 ENSG00000169908 Tm4sf1 (MGI:104678)
chr3 149474580 149503393 3q25 3q25.1 606567 TM4SF4, ILTMP Transmembrane 4 superfamily, member 4 TM4SF4 7104 ENSG00000169903 Tm4sf4 (MGI:2385173)
chr3 149517228 149724787 3q24 3q25.1 607392 WWTR1, TAZ WW domain-containing transcription regulator 1 WWTR1 25937 ENSG00000018408 Wwtr1 (MGI:1917649)
chr3 149738469 149752498 3q25.1 3q25.1 616699 COMMD2 COMM domain-containing protein 2 COMMD2 51122 ENSG00000114744 Commd2 (MGI:1098806)
chr3 149964903 149970953 3q25.1-q25.2 3q25.1 176590 PFN2, PFL, D3S1319E Profilin-2 PFN2 5217 ENSG00000070087 mapped previously to chr.1 Pfn2 (MGI:97550)
chr3 149981660 149983365 3q25.1 3q25.1 611365 TMEM183B, C1orf37DUP Transmembrane protein 183B TMEM183B 653659
chr3 150408334 150460118 3q25.1 3q25.1 617724 TSC22D2, KIAA0669 TSC22 domain family, member 2 TSC22D2 9819 ENSG00000196428 Tsc22d2 (MGI:1919283)
chr3 150541992 150546640 3q25.1 3q25.1 617674 SERP1, RAMP4 Stress-associated endoplasmic reticulum protein 1 SERP1 27230 ENSG00000120742 Serp1 (MGI:92638)
chr3 150546677 150586015 3q25.1 3q25.1 609234 EIF2A Eukaryotic translation initiation factor 2A EIF2A 83939 ENSG00000144895 Eif2a (MGI:1098684)
chr3 150603262 150630446 3q24 3q25.1 607912 SELENOT, SELT Selenoprotein T SELENOT 51714 ENSG00000198843 Selenot (MGI:1916477)
chr3 150741122 150763147 3q25 3q25.1 602213 SIAH2 Seven in absentia, Drosophila, homolog of, 2 SIAH2 6478 ENSG00000181788 Siah2 (MGI:108062)
chr3 150926162 150972998 3q21-q25 3q25.1 606397 CLRN1, USH3A, USH3, RP61 Clarin 1 CLRN1 7401 ENSG00000163646 frequent in Finland; ?digenic interaction with MYO7A Retinitis pigmentosa 61, 614180 (3); Usher syndrome, type 3A, 276902 (3), Autosomal recessive Clrn1 (MGI:2388124)
chr3 151085664 151436676 3q21-q25 3q25.1 611318 MED12L, NOPAR, KIAA1635 Mediator complex subunit 12-like MED12L 116931 ENSG00000144893 Med12l (MGI:2139916)
chr3 151212114 151279166 3q25.1 3q25.1 610116 P2RY14, BPR105, KIAA0001 Purinergic receptor P2Y, G protein-coupled, 14 P2RY14 9934 ENSG00000174944 P2ry14 (MGI:2155705)
chr3 151294085 151316847 3q24 3q25.1 606379 GPR87 G protein-coupled receptor 87 GPR87 53836 ENSG00000138271 Gpr87 (MGI:1934133)
chr3 151326307 151329548 3q24 3q25.1 606380 GPR86 G protein-coupled receptor 86 P2RY13 53829 ENSG00000181631 P2ry13 (MGI:1921441)
chr3 151336842 151384811 3q24-q25 3q25.1 600515 P2RY12, P2Y12, BDPLT8 Purinergic receptor P2Y, G protein-coupled, 12 P2RY12 64805 ENSG00000169313 Bleeding disorder, platelet-type, 8, 609821 (3), Autosomal recessive P2ry12 (MGI:1918089)
chr3 151435050 151619925 3q25.1 3q25.1 617351 IGSF10 Immunoglobulin superfamily, member 10 IGSF10 285313 ENSG00000152580 Igsf10 (MGI:1923481)
chr3 151814007 151828487 3q21.3-q25.2 3q25.1 600338 AADAC, DAC Arylacetamide deacetylase (esterase) AADAC 13 ENSG00000114771 Aadac (MGI:1915008)
chr3 151873642 151884618 3q24-q25.1 3q25.1 606381 SUCNR1, GPR91 Succinate receptor 1 SUCNR1 56670 ENSG00000198829 Sucnr1 (MGI:1934135)
chr3 152243655 152465779 3q25 3q25.1-q25.2 606516 MBNL1, KIAA0428, EXP Muscleblind-like protein MBNL1 4154 ENSG00000152601 Mbnl1 (MGI:1928482)
chr3 152834692 152841438 3q25 3q25.2 601167 P2RY1, P2Y1 Purinergic receptor P2Y, G-protein coupled, 1 P2RY1 5028 ENSG00000169860 P2ry1 (MGI:105049)
chr3 153162211 153170623 3q25.2 3q25.2 179541 RAP2B Ras-related protein 2B RAP2B 5912 ENSG00000181467 Rap2b (MGI:1921262)
chr3 154121002 154257826 3q25.2 3q25.2 617552 ARHGEF26, SGEF Rho guanine nucleotide exchange factor 26 ARHGEF26 26084 ENSG00000114790 Arhgef26 (MGI:1918053)
chr3 154271827 154324496 3q25.2 3q25.2 612767 DHX36, G4R1, RHAU, KIAA1488 DEAH (Asp-Glu-Ala-His) box polypeptide 36 DHX36 170506 ENSG00000174953 Dhx36 (MGI:1919412)
chr3 155024123 155183728 3q21-q27 3q25.2 120520 MME, CD10, CALLA, NEP, CMT2T, SCA43 Membrane metallo-endopeptidase (common acute lymphocytic leukemia antigen) MME 4311 ENSG00000196549 mutation identified in 1 SCA43 family Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3), Autosomal recessive, Autosomal dominant; ?Spinocerebellar ataxia 43, 617018 (3), Autosomal dominant Mme (MGI:97004)
chr3 155290231 155293699 3q25.2 3q25.2 616891 DWORF, LOC100507537 Dwarf open reading frame 100507537 ENSG00000240045
chr3 155300000 161000000 3q25.3 613459 BWQTL2 Birth weight quantitative trait locus 2 100502569 associated with rs900400 [Birth weight QTL 2], 613459 (2)
chr3 155458602 155745723 3q25.31 3q25.31 612835 PLCH1, PLCL3, KIAA1069 Phospholipase C, eta-1 PLCH1 23007 ENSG00000114805 Plch1 (MGI:2683547)
chr3 155826510 155855357 3q25.31 3q25.31 603690 SLC33A1, ACATN, AT1, SPG42, CCHLND Solute carrier family 33 (acetyl-CoA transporter), member 1 SLC33A1 9197 ENSG00000169359 Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3), Autosomal recessive; Spastic paraplegia 42, autosomal dominant, 612539 (3), Autosomal dominant Slc33a1 (MGI:1332247)
chr3 155869429 155943678 3q24 3q25.31 600358 GMPS Guanine monophosphate synthetase GMPS 8833 ENSG00000163655 fusion gene with MLL in AML Gmps (MGI:2448526)
chr3 156118215 156542647 3q26.1 3q25.31 601141 KCNAB1, KCNA1B Potassium voltage-gated channel, shaker-related subfamily, beta member 1 KCNAB1 7881 ENSG00000169282 Kcnab1 (MGI:109155)
chr3 156539552 156555199 3q25.31 3q25.31 606213 SSR3, TRAPG Signal sequence receptor, gamma SSR3 6747 ENSG00000114850 Ssr3 (MGI:1914687)
chr3 156674415 156706769 3q25.31 3q25.31 612480 TIPARP TCDD-inducible poly(ADP-ribose) polymerase TIPARP 25976 ENSG00000163659 Tiparp (MGI:2159210)
chr3 156826286 157047658 3q25.31 3q25.31 613536 LEKR1 Leucine-, glutamate-, and lysine-rich protein 1 LEKR1 389170 ENSG00000197980 Lekr1 (MGI:3645902)
chr3 157146501 157160759 3q25.31 3q25.31 613384 CCNL1, ANIA6A Cyclin L1 CCNL1 57018 ENSG00000163660 Ccnl1 (MGI:1922664)
chr3 157259741 157503776 3q24-q25 3q25.31-q25.32 609594 VEPH1, MELT, KIAA1692 Ventricular zone-expressed PH domain-containing protein, zebrafish, homolog of, 1 VEPH1 79674 ENSG00000197415 Veph1 (MGI:1920039)
chr3 157436790 157443627 3q25 3q25.32 602492 PTX3 Pentraxin-3 PTX3 5806 ENSG00000163661 Ptx3 (MGI:104641)
chr3 158096010 158106211 3q25-q26 3q25.32 602504 SHOX2, SHOT, OG12 Short stature homeo box 2 SHOX2 6474 ENSG00000168779 Shox2 (MGI:1201673)
chr3 158110051 158544834 3q25.32 3q25.32 613352 RSRC1, SRRP53 Arginine/serine-rich coiled-coil protein 1 RSRC1 51319 ENSG00000174891 Rsrc1 (MGI:1914130)
chr3 158571162 158606459 3q25.1 3q25.32 601402 MLF1 Myeloid leukemia factor-1 MLF1 4291 ENSG00000178053 Leukemia, acute myeloid, 601626 (1), Autosomal dominant Mlf1 (MGI:1341819)
chr3 158644523 158692571 3q25.32 3q25.32 606639 GFM1, EFG1, GFM, COXPD1 Mitochondrial elongation factor G1 GFM1 85476 ENSG00000168827 Combined oxidative phosphorylation deficiency 1, 609060 (3), Autosomal recessive Gfm1 (MGI:107339)
chr3 158666413 158672721 3q25.3 3q25.32 609305 LXN, ECI, TCI Latexin LXN 56925 ENSG00000079257 Lxn (MGI:107633)
chr3 158696891 158732943 3q25.3 3q25.32 605090 RARRES1, TIG1 Retinoic acid receptor responder 1 RARRES1 5918 ENSG00000118849 Rarres1 (MGI:1924461)
chr3 159069251 159266306 3q25 3q25.32 611622 IQCJ IQ motif-containing protein J IQCJ 654502 ENSG00000214216 Iqcj (MGI:3644166)
chr3 159988835 159996018 3p12-q13.2 3q25.33 161560 IL12A Interleukin-12A (natural killer cell stimulatory factor-1, cytotoxic lymphocyte maturation factor-1, p35) IL12A 3592 ENSG00000168811 Il12a (MGI:96539)
chr3 160256985 160399531 3q25.33 3q25.33 611177 IFT80, KIAA1374, WDR56, SRTD2, ATD2 Intraflagellar transport 80, Chlamydomonas, homolog of IFT80 57560 ENSG00000068885 Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3), Autosomal recessive Ift80 (MGI:1915509)
chr3 160399303 160434961 3q26.1 3q25.33 605575 CAPC Chromosome-associated protein C SMC4 10051 ENSG00000113810 Smc4 (MGI:1917349)
chr3 160435502 160449837 3q26.1 3q25.33 616148 TRIM59, RNF104, MRF1, IFT80L Tripartite motif-containing protein 59 TRIM59 286827 ENSG00000213186 Trim59 (MGI:1914199)
chr3 160494994 160565587 3q26.1 3q25.33 602970 KPNA4, QIP1 Karyopherin alpha-4 KPNA4 3840 ENSG00000186432 Kpna4 (MGI:1100848)
chr3 160514906 160515235 3q25.33 3q25.33 615644 SCARNA7 Small Cajal body-specific RNA 7 SCARNA7 677767
chr3 160677159 160678447 3q25.33 3q25.33 614439 ARL14, ARF7 ADP-ribosylation factor-like 14 ARL14 80117 ENSG00000179674 Arl14 (MGI:1918869)
chr3 160755531 161078906 3q26.1 3q25.3-q26.1 611931 PPM1L, PP2CE Protein phosphatase 1-like PPM1L 151742 ENSG00000163590 Ppm1l (MGI:2139740)
chr3 161000000 183000000 3q26 109200 AGA1, MPB Alopecia, androgenetic, 1 100188784 Alopecia, androgenetic, 1, 109200 (2), Autosomal dominant
chr3 161000000 183000000 3q26 600049 MDS1 Myelodysplasia syndrome-1 cen--EVI1--MDS1--EAP--tel Myelodysplasia syndrome-1 (3)
chr3 161000000 183000000 3q26.1-q26.3 606082 MNG3 Multinodular goiter-3 94337 Goiter, multinodular, 3, 606082 (2)
chr3 161000000 183000000 3q26 609257 MYP8 Myopia 8 MYP8 553192 Myopia 8, 609257 (2), Multifactorial
chr3 161083882 161105468 3q25 3q26.1 603094 B3GALT3, GLCT3, GLOB UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 3 B3GALNT1 8706 ENSG00000169255 [Blood group, P1PK system, P(k) phenotype], 111400 (3); [Blood group, globoside system], 615021 (3) B3galnt1 (MGI:1349405)
chr3 161221289 161253531 3q26.1 3q26.1 611021 NMD3 NMD3, S. cerevisiae, homolog of NMD3 51068 ENSG00000169251 Nmd3 (MGI:2140103)
chr3 161344783 161373227 3q26.1 3q26.1 610412 SPTSSB, C3orf57, SSSPTB, ADMP Serine palmitoyltransferase, small subunit B SPTSSB 165679 ENSG00000196542 Sptssb (MGI:1913433)
chr3 164978897 165078494 3q25-q26 3q26.1 609845 SI Sucrase-isomaltase SI 6476 ENSG00000090402 Sucrase-isomaltase deficiency, congenital, 222900 (3), Autosomal recessive Sis (MGI:1917233)
chr3 165186719 165197108 3q26 3q26.1 609679 SLITRK3, KIAA0848 SLIT- and NTRK-like family, member 3 SLITRK3 22865 ENSG00000121871 Slitrk3 (MGI:2679447)
chr3 165772902 165837471 3q26.1-q26.2 3q26.1 177400 BCHE, CHE1 Butyrylcholinesterase BCHE 590 ENSG00000114200 distal to CP, TF Apnea, postanesthetic (3) Bche (MGI:894278)
chr3 167441788 167474131 3q26.1-q26.2 3q26.1 605587 SERPIN12, PI14, MEPI Protease inhibitor 14 SERPINI2 5276 ENSG00000114204 Serpini2 (MGI:1915181)
chr3 167683892 167735809 3q26.1 3q26.1 609118 PDCD10, TFAR15, CCM3 Programmed cell death 10 PDCD10 11235 ENSG00000114209 Cerebral cavernous malformations 3, 603285 (3) Pdcd10 (MGI:1928396)
chr3 167735643 167825568 3q26 3q26.1 602445 SERPINI1, PI12 Protease inhibitor 12 SERPINI1 5274 ENSG00000163536 Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3), Autosomal dominant Serpini1 (MGI:1194506)
chr3 167900000 176000000 3q26.2-q26.31 610422 APMR2 Alopecia-mental retardation syndrome 2 100049544 between D3S1564 and D3S2427 Alopecia-mental retardation syndrome 2, 610422 (2), Autosomal recessive
chr3 167900000 183000000 3q26.2-q26.33 612637 FEB10 Febrile seizures, familial, 10 100271923 between D3S3656 and D3S1232 Febrile seizures, familial, 10, 612637 (2)
chr3 168008671 168095924 3q26.2 3q26.2 606805 GOLIM4, GOLPH4, GPP130 Golgi integral membrane protein 4 GOLIM4 27333 ENSG00000173905 Golim4 (MGI:1920374)
chr3 169083498 169663780 3q26 3q26.2 165215 MECOM, EVI1, RUSAT2 MDS1 and EVS1 complex locus MECOM 2122 ENSG00000085276 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3), Autosomal dominant Mecom (MGI:95457)
chr3 169764609 169765059 3q21-q28 3q26.2 602322 TERC, TRC3, TR, DKCA1, PFBMFT2 Telomerase RNA component TERC 7012 {Aplastic anemia}, 614743 (3), Autosomal dominant; Dyskeratosis congenita, autosomal dominant 1, 127550 (3), Autosomal dominant; {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743 (3), Autosomal dominant
chr3 169766920 169769894 3q26.2 3q26.2 608534 ARPM1 Actin-related protein M1 ACTRT3 84517 ENSG00000184378 Actrt3 (MGI:1923902)
chr3 169772229 169772301 3q26.2 3q26.2 615310 TRV-AAC1-1, TRNAV24 Transfer RNA valine (AAC) 1-1 TRV-AAC1-1 100189318
chr3 169772246 169790454 3q26.2 3q26.2 606042 MYNN Myoneurin MYNN 55892 ENSG00000085274 Mynn (MGI:1931415)
chr3 169966135 169998372 3q26.2 3q26.2 602173 SEC62, TLOC1, HTP1 Sec62, S. cerevisiae, homolog of SEC62 7095 ENSG00000008952 Sec62 (MGI:1916526)
chr3 170222431 170305981 3p25-q27 3q26.2 600539 PRKCI Protein kinase C, iota PRKCI 5584 ENSG00000163558 pseudogene on X Prkci (MGI:99260)
chr3 170357677 170396848 3q26.2 3q26.2 165340 SKIL, SNO SKI-like SKIL 6498 ENSG00000136603 Skil (MGI:106203)
chr3 170418864 170434690 3q26.2-q26.3 3q26.2 601326 CLDN11, OTM, OSP Claudin 11 (oligodendrocyte transmembrane protein) CLDN11 5010 ENSG00000013297 Cldn11 (MGI:106925)
chr3 170459553 170586073 3q26.2 3q26.2 615720 SLC7A14, KIAA1613, RP68 Solute carrier family 7, member 14 SLC7A14 57709 ENSG00000013293 Retinitis pigmentosa 68, 615725 (3), Autosomal recessive Slc7a14 (MGI:3040688)
chr3 170888414 170908636 3q25-q27 3q26.2 605782 EIF5A2 Eukaryotic translation initiation factor 5A2 EIF5A2 56648 ENSG00000163577 Eif5a2 (MGI:1933735)
chr3 170996340 171026978 3q26.1-q26.3 3q26.2 138160 SLC2A2, GLUT2 Solute carrier family 2 (facilitated glucose transporter), member 2 SLC2A2 6514 ENSG00000163581 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Fanconi-Bickel syndrome, 227810 (3), Autosomal recessive Slc2a2 (MGI:1095438)
chr3 171058413 171460407 3q26.2-q26.3 3q26.2-q26.3 610005 TNIK, KIAA0551, MRT54 TRAF2-and NCK-interacting kinase TNIK 23043 ENSG00000154310 Mental retardation, autosomal recessive 54, 617028 (3), Autosomal recessive Tnik (MGI:1916264)
chr3 171200000 188200000 3q26.3-q27.3 203650 APMR1 Alopecia-mental retardation syndrome 1 max lod at D3S3583 Alopecia-mental retardation syndrome 1, 203650 (2), Autosomal recessive
chr3 171600403 171810493 3q26 3q26.31 602382 PLD1, CVDD Phospholipase D1, phosphatidylcholine-specific PLD1 5337 ENSG00000075651 Cardiac valvular defect, developmental, 212093 (3), Autosomal recessive Pld1 (MGI:109585)
chr3 172039627 172400702 3q26 3q26.31 611909 FNDC3B, FAD104 Fibronectin domain III-containing protein 3B FNDC3B 64778 ENSG00000075420 Fndc3b (MGI:1919257)
chr3 172443290 172448455 3q26.3 3q26.31 601898 GHSR, GHDP Growth hormone secretagogue receptor GHSR 2693 ENSG00000121853 Growth hormone deficiency, isolated partial, 615925 (3), Autosomal recessive, Autosomal dominant Ghsr (MGI:2441906)
chr3 172505507 172523506 3q26 3q26.31 603598 TNFSF10, TRAIL, APO2L Tumor necrosis factor ligand superfamily, member 10 TNFSF10 8743 ENSG00000121858 Tnfsf10 (MGI:107414)
chr3 172630644 172711217 3q26.3 3q26.31 613234 NCEH1, NCEH, KIAA1363 Neutral cholesterol ester hydrolase 1 NCEH1 57552 ENSG00000144959 Nceh1 (MGI:2443191)
chr3 172750684 172829272 3q26.1-q26.2 3q26.31 600586 ECT2 Epithelial cell transforming sequence 2 oncogene ECT2 1894 ENSG00000114346 Ect2 (MGI:95281)
chr3 172889356 173141267 3q26.3 3q26.31 609856 SPATA16, SPGF6 Spermatogenesis-associated protein 16 SPATA16 83893 ENSG00000144962 mutation identified in 1 SPGF6 family ?Spermatogenic failure 6, 102530 (3), Autosomal recessive Spata16 (MGI:1918112)
chr3 173395898 174291286 3q26.3 3q26.31 600568 NLGN1 Neuroligin 1 NLGN1 22871 ENSG00000169760 Nlgn1 (MGI:2179435)
chr3 174438533 175810547 3q26.3 3q26.31 608806 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 NAALADL2 254827 ENSG00000177694 ?involved in Cornelia de Lange syndrome Naaladl2 (MGI:2685867)
chr3 176000000 192600000 3q26.32-q28 615127 FAME4, FCMTE4 Epilepsy, familial adult myoclonic, 4 101409188 between D3S3730 and D3S1580 Epilepsy, myoclonic, familial adult, 4, 615127 (2), Autosomal dominant
chr3 177019354 177197356 3q26.32 3q26.32 608628 TBL1XR1, TBLR1, IRA1, C21, MRD41 Transducin-beta-like 1 receptor 1 TBL1XR1 79718 ENSG00000177565 Mental retardation, autosomal dominant 41, 616944 (3), Autosomal dominant; Pierpont syndrome, 602342 (3), Autosomal dominant Tbl1xr1 (MGI:2441730)
chr3 178536297 178844428 3q26.32 3q26.32 605214 KCNMB2 Potassium channel, calcium-activated, large conductance, subfamily M, beta member 2 KCNMB2 10242 ENSG00000197584 Kcnmb2 (MGI:1919663)
chr3 179017222 179071867 3q26.3-q27 3q26.32 606452 WIG1 Wildtype p53-induced gene ZMAT3 64393 ENSG00000172667 Zmat3 (MGI:1195270)
chr3 179148113 179240092 3q26.3 3q26.32 171834 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5 Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide PIK3CA 5290 ENSG00000121879 Breast cancer, somatic, 114480 (3); CLOVE syndrome, somatic, 612918 (3); Colorectal cancer, somatic, 114500 (3); Cowden syndrome 5, 615108 (3); Gastric cancer, somatic, 613659 (3); Hepatocellular carcinoma, somatic, 114550 (3); Keratosis, seborrheic, somatic, 182000 (3); Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3); Nevus, epidermal, somatic, 162900 (3); Nonsmall cell lung cancer, somatic, 211980 (3); Ovarian cancer, somatic, 167000 (3) Pik3ca (MGI:1206581)
chr3 179239748 179267049 3q26.3-q27.1 3q26.32 605222 KCNMB3 Potassium large conductance calcium-activated channel, subfamily M, beta member 3 KCNMB3 27094 ENSG00000171121 Kcnmb3 (MGI:3612244)
chr3 179396087 179451582 3q26.3 3q26.33 610863 GNB4, CMTD1F Guanine nucleotide-binding protein, beta-4 GNB4 59345 ENSG00000114450 Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3), Autosomal dominant Gnb4 (MGI:104581)
chr3 179562879 179588404 3q26.3 3q26.33 604958 ACTL6A, BAF53, BAF53A Actin-like 6A ACTL6A 86 ENSG00000136518 Actl6a (MGI:1861453)
chr3 179588464 179604645 3q26.3 3q26.33 611852 MRPL47 Mitochondrial ribosomal protein L47 MRPL47 57129 ENSG00000136522 Mrpl47 (MGI:1921850)
chr3 179653144 179789400 3q26.2-q26.3 3q26.33 603591 USP13, ISOT3 Ubiquitin-specific protease-13 USP13 8975 ENSG00000058056 Usp13 (MGI:1919857)
chr3 179794957 180037052 3q26.2-q27 3q26.33 611058 PEX5L, PEX5R, PXR2B Peroxisome biogenesis factor 5-like PEX5L 51555 ENSG00000114757 Pex5l (MGI:1916672)
chr3 180614007 180679494 3q26.33 3q26.33 613798 CCDC39 Coiled-coil domain-containing protein 39 CCDC39 339829 ENSG00000284862 Ciliary dyskinesia, primary, 14, 613807 (3) Ccdc39 (MGI:1289263)
chr3 180912445 180982752 3q28 3q26.33 600819 FXR1 Fragile X mental retardation, autosomal homolog FXR1 8087 ENSG00000114416 pseudogene on 12q12 Fxr1 (MGI:104860)
chr3 180983708 180989773 3q26.3 3q26.33 608977 DNAJC19, TIM14 DnaJ (Hsp40) homolog, subfamily C, member 19 (translocase of inner mitochondrial membrane 14, yeast, homolog of) DNAJC19 131118 ENSG00000205981 3-methylglutaconic aciduria, type V, 610198 (3), Autosomal recessive Dnajc19-ps,Dnajc19 (MGI:1914963,MGI:3709029)
chr3 181056679 181742227 3q26.33 3q26.33 616338 SOX2OT, NCRNA00043 SOX2 overlapping transcript, noncoding SOX2-OT 347689
chr3 181711923 181714435 3q26.3-q27 3q26.33 184429 SOX2, MCOPS3 SRY (sex determining region Y)-box 2 SOX2 6657 ENSG00000181449 Microphthalmia, syndromic 3, 206900 (3), Autosomal dominant; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3), Autosomal dominant Sox2 (MGI:98364)
chr3 182793502 182923009 3q27 3q26.33 605869 ATP11B, ATPIR ATPase, class VI, type 11B ATP11B 23200 ENSG00000058063 Atp11b (MGI:1923545)
chr3 182938157 182986363 3q26.3 3q26.33 605905 DCUN1D1, RP42 DCN1 domain-containing protein 1 DCUN1D1 54165 ENSG00000043093 previously mapped to 6q16 Dcun1d1 (MGI:2150386)
chr3 183000000 188200000 3q27 605552 AOMS1, SYNX Abdominal obesity-metabolic syndrome QTL1 65076 epistatic gene on 17p12 Abdominal obesity-metabolic syndrome 1, 605552 (2), Autosomal dominant
chr3 183000000 192600000 3q27-q28 605229 SPG14 Spastic paraplegia 14, autosomal recessive SPG14 57309 Spastic paraplegia 14, autosomal recessive, 605229 (2), Autosomal recessive
chr3 183015217 183099586 3q25-q27 3q27.1 609010 MCCC1, MCCA 3-Methylcrotonyl-CoA carboxylase 1 MCCC1 56922 ENSG00000078070 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3), Autosomal recessive Mccc1 (MGI:1919289)
chr3 183122214 183162878 3q26.3-q27 3q27.1 605883 DCLAMP Lysosome-associated membrane glycoprotein, dendritic cell-specific LAMP3 27074 ENSG00000078081 Lamp3 (MGI:2441659)
chr3 183253206 183273390 3q27.1 3q27.1 615333 B3GNT5 Beta-1,3-N-acetylglucosaminyltransferase 5 B3GNT5 84002 ENSG00000176597 B3gnt5 (MGI:2137302)
chr3 183487527 183555711 3q27.3 3q27.1 614214 KLHL6, FLJ00029 Kelch-like 6 KLHL6 89857 ENSG00000172578 Klhl6 (MGI:2686922)
chr3 183635618 183684518 3q27.1 3q27.1 611295 KLHL24, KRIP6, EBSSH Kelch-like 24 KLHL24 54800 ENSG00000114796 Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294 (3), Autosomal dominant Klhl24 (MGI:1923035)
chr3 183697803 183812624 3q27.1 3q27.1 613373 YEATS2, KIAA1197 YEATS domain-containing protein 2 YEATS2 55689 ENSG00000163872 Yeats2 (MGI:2447762)
chr3 183815875 183825604 3q27 3q27.1 610593 MAPO6D1, SL21 MAP6 domain-containing protein 1 MAP6D1 79929 ENSG00000180834 Map6d1 (MGI:3607784)
chr3 183826487 183884907 3q27 3q27.1 607858 PARL Presenilin-associated rhomboid-like protein PARL 55486 ENSG00000175193 Parl (MGI:1277152)
chr3 183919933 184018009 3q27 3q27.1 605251 ABCC5, MRP5, MOATC ATP-binding cassette, subfamily C, member 5 ABCC5 10057 ENSG00000114770 Abcc5 (MGI:1351644)
chr3 184031543 184039368 3q27 3q27.1 610122 HTR3D 5-hydroxytryptamine receptor 3, subunit D HTR3D 200909 ENSG00000186090
chr3 184053046 184060672 3q27 3q27.1 610121 HTR3C 5-hydroxytryptamine receptor 3C HTR3C 170572 ENSG00000178084
chr3 184097063 184106994 3q27 3q27.1 610123 HTR3E 5-hydroxytryptamine receptor 3, subunit E HTR3E 285242 ENSG00000186038
chr3 184135021 184145310 3q27 3q27.1 603945 EIF2B5, LVWM, CACH, CLE Eukaryotic translation initiation factor 2B, subunit 5 EIF2B5 8893 ENSG00000145191 Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive Eif2b5 (MGI:2446176)
chr3 184155310 184173613 3q27 3q27.1 601368 DVL3, DRS3 Dishevelled 3 (homologous to Drosophila dsh) DVL3 1857 ENSG00000161202 Robinow syndrome, autosomal dominant 3, 616894 (3), Autosomal dominant Dvl3 (MGI:108100)
chr3 184174845 184184090 3q28 3q27.1 601024 AP2M1, CLAPM1 Adaptor-related protein complex 2, mu 1 subunit AP2M1 1173 ENSG00000161203 Ap2m1 (MGI:1298405)
chr3 184241404 184241488 3q27.1 3q27.1 611620 MIR1224, MIRN1224 Micro RNA 1224 MIR1224 100187716
chr3 184242328 184258300 3q27 3q27.1 608750 ALG3, NOT56L, CDGS4, CDG1D Alg3, S. cerevisiae, homolog of ALG3 10195 ENSG00000214160 Congenital disorder of glycosylation, type Id, 601110 (3), Autosomal recessive Alg3 (MGI:1098592)
chr3 184259214 184261462 3q27.1 3q27.1 608721 CAMK2N2, CAMKIIN Calcium/calmodulin-dependent protein kinase II inhibitor 2 CAMK2N2 94032 ENSG00000163888 Camk2n2 (MGI:1920297)
chr3 184276010 184293030 3q27.1 3q27.1 610145 ECE2, KIAA0604 Endothelin-converting enzyme 2 ECE2 9718 ENSG00000145194 Ece2 (MGI:1101356)
chr3 184299097 184309053 3q27.1 3q27.1 606223 PSMD2, S2, TRAP2 Proteasome 26S subunit, non-APTase, 2 PSMD2 5708 ENSG00000175166 Psmd2 (MGI:1096584)
chr3 184314494 184335357 3q27 3q27.1 600495 EIF4G1, EIF4G, PARK18 Eukaryotic translation initiation factor 4 gamma, 1 EIF4G1 1981 ENSG00000114867 amplified in squamous cell lung cancer {Parkinson disease 18}, 614251 (3), Autosomal dominant Eif4g1 (MGI:2384784)
chr3 184346184 184361650 3q26 3q27.1 600570 CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT Chloride channel-2 CLCN2 1181 ENSG00000114859 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3), Autosomal dominant; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3), Autosomal dominant; Leukoencephalopathy with ataxia, 615651 (3), Autosomal recessive Clcn2 (MGI:105061)
chr3 184361709 184368594 3q28 3q27.1 606023 POLR2H, RPB8 Polymerase II, RNA, subunit H POLR2H 5437 ENSG00000163882 Polr2h (MGI:2384309)
chr3 184371934 184379687 3q26.3-q27 3q27.1 600044 THPO, MGDF, MPLLG, TPO, THCYT1 Thrombopoietin (megakaryocyte growth and development factor) THPO 7066 ENSG00000090534 Thrombocythemia 1, 187950 (3), Autosomal dominant Thpo (MGI:101875)
chr3 184380072 184389834 3q27 3q27.1 603475 CHRD Chordin CHRD 8646 ENSG00000090539 near THPO, CLCN2, EIF4G1 Chrd (MGI:1313268)
chr3 184561798 184582407 3q21-qter 3q27.1 601839 EPHB3, ETK2 EPH-like tyrosine kinase-2 EPHB3 2049 ENSG00000182580 Ephb3 (MGI:104770)
chr3 184710366 184712047 3q13 3q27.1 609267 MAGEF1 Melanoma antigen, family F, 1 MAGEF1 64110 ENSG00000177383
chr3 185190623 185254097 3q27 3q27.2 607037 EHHADH, PBFE, LBFP, FRTS3 Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase EHHADH 1962 ENSG00000113790 mutation identified in 1 family ?Fanconi renotubular syndrome 3, 615605 (3), Autosomal dominant Ehhadh (MGI:1277964)
chr3 185282937 185489093 3q27 3q27.2 604915 MAP3K13, LZK Mitogen-activated protein kinase kinase kinase 13 (leucine zipper-bearing kinase) MAP3K13 9175 ENSG00000073803 Map3k13 (MGI:2444243)
chr3 185507044 185552660 3q27-q28 3q27.2 607365 LIPH, LAH2, ARWH2, HYPT7 Lipase H LIPH 200879 ENSG00000163898 Hypotrichosis 7, 604379 (3), Autosomal recessive; Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3), Autosomal recessive Liph (MGI:2388029)
chr3 185586242 185631100 3q27 3q27.2 608261 SENP2, SMT3IP2, AXAM2, KIAA1331 Sentrin-specific protease family, member 2 SENP2 59343 ENSG00000163904 Senp2 (MGI:1923076)
chr3 185643130 185825055 3q28 3q27.2 608289 IGF2BP2, IMP2 Insulin-like growth factor 2 mRNA-binding protein 2 IGF2BP2 10644 ENSG00000073792 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant Igf2bp2 (MGI:1890358)
chr3 185914567 185938135 3q26.2-q27 3q27.2 602719 TRA2B, SFRS10 Splicing factor, arginine/serine-rich, 10 (transformer 2, drosophila, homolog of, beta) TRA2B 6434 ENSG00000136527 Tra2b (MGI:106016)
chr3 186046316 186109111 3q28 3q27.2 601600 ETV5, ERM ets variant gene 5 (ets-related molecule) ETV5 2119 ENSG00000244405 Etv5 (MGI:1096867)
chr3 186147200 186362233 3q27-q28 3q27.2-q27.3 601854 DGKG, DAGK3 Diacylglycerol kinase, gamma, 90-kD DGKG 1608 ENSG00000058866 Dgkg (MGI:105060)
chr3 186538438 186544450 3q27 3q27.3 123730 CRYGS, CRYG8, CTRCT20 Crystallin, gamma S CRYGS 1427 ENSG00000213139 Cataract 20, multiple types, 116100 (3), Autosomal dominant Crygs (MGI:1298216)
chr3 186570675 186585799 3q27.3 3q27.3 611341 DNAJB11, HEDJ, DJ9, ABBP2 DNAJ/HSP40 homolog, subfamily B, member 11 DNAJB11 51726 ENSG00000090520 Dnajb11 (MGI:1915088)
chr3 186612922 186621317 3q27 3q27.3 138680 AHSG, APMR1 Alpha-2HS-glycoprotein AHSG 197 ENSG00000145192 mutation identified in 1 APMR1 family ?Alopecia-mental retardation syndrome 1, 203650 (3), Autosomal recessive Ahsg (MGI:107189)
chr3 186635827 186653007 3q27 3q27.3 605954 FETUB Fetuin B FETUB 26998 ENSG00000090512 Fetub (MGI:1890221)
chr3 186665951 186678239 3q27 3q27.3 142640 HRG, THPH11 Histidine-rich glycoprotein HRG 3273 ENSG00000113905 Thrombophilia due to HRG deficiency, 613116 (3), Autosomal dominant; Thrombophilia due to elevated HRG, 613116 (1), Autosomal dominant
chr3 186717308 186744409 3q27 3q27.3 612358 KNG1, KNG Kininogen 1 KNG1 3827 ENSG00000113889 [High molecular weight kininogen deficiency], 228960 (3), Autosomal recessive; [Kininogen deficiency], 228960 (3), Autosomal recessive Kng2,Kng1 (MGI:1097705,MGI:3027157)
chr3 186783571 186789896 3q28 3q27.3 601102 EIF4A2 Eukaryotic translation initiation factor-4A, isoform 2 EIF4A2 1974 ENSG00000156976 previously 18p11.2 by FISH Eif4a2 (MGI:106906)
chr3 186786674 186786851 3q27.3 3q27.3 611334 SNORA81 Small nucleolar RNA, H/ACA box, 81 SNORA81 677847 in intron 3 of EIF2A
chr3 186787298 186787432 3q27.3 3q27.3 180647 SNORA63, RNU107, RNE3 Small nucleolar RNA, H/ACA box, 63 SNORA63 6043
chr3 186789891 186806694 3q27 3q27.3 102577 RFC4 Replication factor C4, 37kD (activator 1, 37kD) RFC4 5984 ENSG00000163918 Rfc4 (MGI:2146571)
chr3 186842673 186858462 3q27 3q27.3 605441 ADIPOQ, APM1, GBP28, ADIPQTL1 Adipocyte-, C1q-, and collagen domain-containing ADIPOQ 9370 ENSG00000181092 Adiponectin deficiency, 612556 (3) Adipoq (MGI:106675)
chr3 186930525 187078552 3q21-q28 3q27.3 109675 SIAT1 Sialyltransferase-1 (beta-galactoside alpha-2,6-sialyltransferase) ST6GAL1 6480 ENSG00000073849 St6gal1 (MGI:108470)
chr3 187120947 187139522 3q27 3q27.3 607547 RPL39L Ribosomal protein L39-like RPL39L 116832 ENSG00000163923
chr3 187197485 187201464 3q27.3 3q27.3 609137 RTP1 Receptor-transporting protein 1 RTP1 132112 ENSG00000175077 Rtp1 (MGI:2685450)
chr3 187216084 187293528 3q27-q28 3q27.3 600521 MASP1, CRARF, 3MC1 Mannan-binding lectin serine protease-1 (C4/C2 activating component of Ra-reactive factor) MASP1 5648 ENSG00000127241 3MC syndrome 1, 257920 (3), Autosomal recessive
chr3 187368379 187371583 3q27 3q27.3 609350 RTP4 Receptor-transporting protein 4 RTP4 64108 ENSG00000136514 Rtp4 (MGI:1915025)
chr3 187668905 187670412 3q28 3q27.3 182450 SST Somatostatin SST 6750 ENSG00000157005 Sst (MGI:98326)
chr3 187698258 187715624 3q27.3 3q27.3 609138 RTP2 Receptor-transporting protein 2 RTP2 344892 ENSG00000198471 Rtp2 (MGI:2685451)
chr3 187721376 187745724 3q27 3q27.3 109565 BCL6 B-cell CLL/lymphoma-6 BCL6 604 ENSG00000113916 Lymphoma, B-cell, 109565 (2) Bcl6 (MGI:107187)
chr3 188152151 188890670 3q28 3q27-q28 600700 LPP Lipoma-preferred-partner gene LPP 4026 ENSG00000145012 fused with HMGIC in lipoma; fused with MLL in leukemia Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Lipoma (3) Lpp (MGI:2441849)
chr3 188200000 192600000 3q28 612009 CELIAC11 Celiac disease, susceptibility to, 11 100188873 associated with rs1464510 {Celiac disease, susceptibility to, 11}, 612009 (2)
chr3 188200000 192600000 3q28 614210 LNCR5 Lung cancer susceptibility 5 100682395 associated with rs4488809 {Lung cancer susceptibility 5}, 614210 (2)
chr3 188688780 188688865 3q28 3q28 612154 MIR28, MIRN28 Micro RNA 28 MIR28 407020
chr3 189596745 189897278 3q27 3q28 603273 TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 Tumor protein p63 (tumor protein p73-like) TP63 8626 ENSG00000073282 ADULT syndrome, 103285 (3), Autosomal dominant; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3), Autosomal dominant; Hay-Wells syndrome, 106260 (3), Autosomal dominant; Limb-mammary syndrome, 603543 (3), Autosomal dominant; Orofacial cleft 8, 129400 (3), Autosomal dominant; Rapp-Hodgkin syndrome, 129400 (3), Autosomal dominant; Split-hand/foot malformation 4, 605289 (3), Autosomal dominant Trp63 (MGI:1330810)
chr3 189956727 190122436 3q29 3q28 610341 P3H2, LEPREL1, MCVD Prolyl 3-hydroxylase 2 P3H2 55214 ENSG00000090530 Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3), Autosomal recessive P3h2 (MGI:2146663)
chr3 190305700 190322445 3q28-q29 3q28 603718 CLDN1, SEMP1, ILVASC Claudin 1 CLDN1 9076 ENSG00000163347 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3), Autosomal recessive Cldn1 (MGI:1276109)
chr3 190387871 190412142 3q27 3q28 603959 CLDN16, PCLN1, HOMG3 Claudin 16 (paracellin 1) CLDN16 10686 ENSG00000113946 Hypomagnesemia 3, renal, 248250 (3), Autosomal recessive Cldn16 (MGI:2148742)
chr3 190428654 190449875 3q28 3q28 614786 TMEM207 Transmembrane protein 207 TMEM207 131920 ENSG00000198398 Tmem207 (MGI:2685386)
chr3 190514050 190657196 3q28 3q28 602626 IL1RAP Interleukin 1 receptor accessory protein IL1RAP 3556 ENSG00000196083 Il1rap (MGI:104975)
chr3 190843270 190864199 3q28 3q28 614448 GMNC, GEMC1 Geminin coiled-coil domain-containing protein GMNC 647309 ENSG00000205835 Gmnc (MGI:2685452)
chr3 191199240 191265614 3q26 3q28 610280 OSTN Osteocrin OSTN 344901 ENSG00000188729 Ostn (MGI:2677164)
chr3 191329081 191398669 3q28 3q28 611051 CCDC50, C3orf6, DFNA44 Coiled-coil domain-containing protein 50 CCDC50 152137 ENSG00000152492 mutation identified in 1 DFNA44 family ?Deafness, autosomal dominant 44, 607453 (3), Autosomal dominant
chr3 191461162 191461455 3q28 3q28 615701 PYDC2, POP2 Pyrin domain-containing protein 2 PYDC2 152138 ENSG00000253548
chr3 192139392 192727598 3q28 3q28-q29 601513 FGF12, FHF1, EIEE47 Fibroblast growth factor-12 FGF12 2257 ENSG00000114279 Epileptic encephalopathy, early infantile, 47, 617166 (3), Autosomal dominant Fgf12 (MGI:109183)
chr3 192600000 198295559 3q29 609425 DEL3q29, MICRODEL3q29 Chromosome 3q29 microdeletion syndrome contiguous gene deletion syndrome Chromosome 3q29 microdeletion syndrome, 609425 (4), Isolated cases
chr3 192600000 198295559 3q29 611936 DUP3q29, MICRODUP3q29 Chromosome 3q29 microduplication syndrome contiguous gene duplication syndrome Chromosome 3q29 microduplication syndrome, 611936 (4), Autosomal dominant
chr3 193241127 193281638 3q28-q29 3q29 606487 HRASLS HRAS-like suppressor HRASLS 57110 ENSG00000127252 Hrasls (MGI:1351473)
chr3 193398966 193593113 3q29 3q29 609556 ATP13A4 ATPase, type 13A4 ATP13A4 84239 ENSG00000127249 Atp13a4 (MGI:1924456)
chr3 193593143 193697810 3q28-q29 3q29 605290 OPA1, NTG, NPG, BERHS, MTDPS14 Optic atrophy 1 gene OPA1 4976 ENSG00000198836 mutation identified in 1 MTDPS14 family Behr syndrome, 210000 (3), Autosomal recessive; {Glaucoma, normal tension, susceptibility to}, 606657 (3); ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3); Optic atrophy 1, 165500 (3), Autosomal dominant; Optic atrophy plus syndrome, 125250 (3), Autosomal dominant Opa1 (MGI:1921393)
chr3 194136141 194138611 3q28-q29 3q29 139605 HES1, HRY Hairy and enhancer of split, Drosophila, homolog of HES1 3280 ENSG00000114315 Hes1 (MGI:104853)
chr3 194339764 194351386 3q29 3q29 603104 CPN2 Carboxypeptidase N, polypeptide 2, 83-KD CPN2 1370 ENSG00000178772 conflicting assignment to chr.8 Cpn2 (MGI:1919006)
chr3 194394820 194399265 3q29 3q29 173511 GP5 Glycoprotein V, platelet GP5 2814 ENSG00000178732 Gp5 (MGI:1096363)
chr3 194402673 194487005 3q26.32 3q29 610232 ATP13A3, AFURS1 ATPase, type 13A3 ATP13A3 79572 ENSG00000133657 Atp13a3 (MGI:2685387)
chr3 194640787 194672476 3q29 3q29 610780 LSG1 Large subunit GTPase 1, S. cerevisiae, homolog of LSG1 55341 ENSG00000041802 Lsg1 (MGI:107236)
chr3 195066969 195271165 3q29 3q29 614552 XXYLT1, C3orf21 Xyloside xylosyltransferase 1 XXYLT1 152002 ENSG00000173950 Xxylt1 (MGI:2146443)
chr3 195274735 195443175 3q29 3q29 607766 CENTB2, KIAA0041, ACAP2 Centaurin, beta-2 ACAP2 23527 ENSG00000114331 Acap2 (MGI:1925868)
chr3 195514421 195543400 3q29 3q29 601792 PPP1R2, IPP2 Protein phosphatase-1, regulatory (inhibitor) subunit 2 PPP1R2 5504 ENSG00000184203 pseudogenes on chr. 5 and 6 Ppp1r2 (MGI:1914099)
chr3 195568701 195584204 3q26.2-qter 3q29 107740 APOD Apolipoprotein D APOD 347 ENSG00000189058 Apod (MGI:88056)
chr3 195699400 195699496 3q29 3q29 614538 MIR570 Micro RNA 570 MIR570 693155
chr3 195720881 195733552 3q29 3q29 610360 MUC20 Mucin 20, cell surface-associated MUC20 200958 ENSG00000176945 Muc20 (MGI:2385039)
chr3 195746764 195811972 3q29 3q29 158372 MUC4 Mucin 4, tracheobronchial MUC4 4585 ENSG00000145113
chr3 195863363 195909008 3q29 3q29 606994 TNK2, ACK, ACK1 Tyrosine kinase, non-receptor, 2 TNK2 10188 ENSG00000061938 Tnk2 (MGI:1858308)
chr3 196018693 196082160 3q29 3q29 190010 TFRC, TFR, CD71, IMD46 Transferrin receptor TFRC 7037 ENSG00000072274 Immunodeficiency 46, 616740 (3), Autosomal recessive Tfrc (MGI:98822)
chr3 196216511 196233429 3q29 3q29 612084 OSTA Organic solute transporter, alpha SLC51A 200931 ENSG00000163959 Slc51a (MGI:2146634)
chr3 196237744 196287751 3q29 3q29 123695 PCYT1A, CTPCT, PCYT1, SMDCRD Phosphate cytidylyltransferase 1, choline, alpha isoform PCYT1A 5130 ENSG00000161217 Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3), Autosomal recessive Pcyt1a (MGI:88557)
chr3 196291218 196318293 3q29 3q29 617353 TCTEX1D2, SRTD17 TCTEX1 domain-containing protein 2 TCTEX1D2 255758 ENSG00000213123 Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 (3), Autosomal recessive Tctex1d2 (MGI:1913311)
chr3 196347658 196454322 3q29 3q29 616379 UBXN7, KIAA0794 UBX domain protein 7 UBXN7 26043 ENSG00000163960 Ubxn7 (MGI:2146388)
chr3 196468782 196503767 3q29 3q29 612688 RNF168 RING finger protein 168 RNF168 165918 ENSG00000163961 RIDDLE syndrome, 611943 (3), Autosomal recessive Rnf168 (MGI:1917488)
chr3 196554176 196568673 3q29 3q29 615110 WDR53 WD repeat-containing protein 53 WDR53 348793 ENSG00000185798 Wdr53 (MGI:1916230)
chr3 196568853 196589058 3q29 3q29 609112 FBXO45, FBX45 F-box only protein 45 FBXO45 200933 ENSG00000174013 Fbxo45 (MGI:2447775)
chr3 196639695 196662003 3q29 3q29 615322 NRROS, LRRC33 Negative regulator of oxygen species NRROS 375387 ENSG00000174004 Nrros (MGI:2445095)
chr3 196706272 196712293 3q29 3q29 615586 CEP19, C3orf34, MOSPGF Centrosomal protein, 19kD CEP19 84984 ENSG00000174007 mutation identified in 1 family Morbid obesity and spermatogenic failure, 615703 (3), Autosomal recessive Cep19 (MGI:1914244)
chr3 196712373 196736006 3q29 3q29 610276 PIGX Phosphatidylinositol glycan, class X PIGX 54965 ENSG00000163964 Pigx (MGI:1919334)
chr3 196739856 196832646 3q29 3q29 605022 PAK2, PAK65 p21-activated kinase 2 PAK2 5062 ENSG00000180370 deleted in 3q29 microdeletion syndrome Pak2 (MGI:1339984)
chr3 196867855 196934713 3q29 3q29 612845 SENP5 Sentrin-specific protease family, member 5 SENP5 205564 ENSG00000119231 Senp5 (MGI:2443596)
chr3 196932728 196942592 3q29 3q29 605133 NCBP2, CBP20, NIP1 Nuclear CAP-binding protein 2 NCBP2 22916 ENSG00000114503 Ncbp2 (MGI:1915342)
chr3 196946342 196969410 3q29 3q29 611671 PIGZ, SMP3 Phosphatidylinositol glycan, class Z PIGZ 80235 ENSG00000119227 Pigz (MGI:2443822)
chr3 197001739 197029815 3q29 3q29 155750 MFI2, MAP97 Melanoma-associated antigen p97 MELTF 4241 ENSG00000163975 Meltf (MGI:1353421)
chr3 197042559 197299271 3q29 3q29 601014 DLG1 Discs, large, Drosophila, homolog of, 1 DLG1 1739 ENSG00000075711 deleted in 3q29 microdeletion syndrome Dlg1 (MGI:107231)
chr3 197509782 197573322 3q29 3q29 603063 BDH1, BDH 3-hydroxybutyrate dehydrogenase 1 BDH1 622 ENSG00000161267 Bdh1 (MGI:1919161)
chr3 197668866 197749726 3q29 3q29 613516 RUBCN, RUBICON, KIAA0226, SCAR15 RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein RUBCN 9711 ENSG00000145016 mutation identified in 1 family ?Spinocerebellar ataxia, autosomal recessive 15, 615705 (3), Autosomal recessive Rubcn (MGI:1915160)
chr3 197749552 197784445 3q29 3q29 616933 FYTTD1, UIF Forty-two-three domain-containing protein 1 FYTTD1 84248 ENSG00000122068 Fyttd1 (MGI:1917955)
chr3 197889074 197960110 3q29 3q29 612477 IQCG IQ motif-containing protein G IQCG 84223 ENSG00000114473 Iqcg (MGI:1916957)
chr3 197950189 197955850 3q29-qter 3q29 180468 RPL35A, DBA5 Ribosomal protein L35A RPL35A 6165 ENSG00000182899 previous assignment to chr.18 in error Diamond-Blackfan anemia 5, 612528 (3), Autosomal dominant Rpl35a (MGI:1928894)
chr3 197960199 198043719 3q29 3q29 609380 LMLN Leishmanolysin-like LMLN 89782 ENSG00000185621 Lmln (MGI:2444736)
chr4 0 11300000 4p16 600593 CRSA, CRS3 Craniosynostosis, Adelaide type 7885 Craniosynostosis, Adelaide type, 600593 (2), ?Autosomal dominant
chr4 0 182300000 4p16-q34 603783 INTLQ1 Intelligence quantitative trait locus 1 100462721 associated with D4S2943, MSX1, and D4S1607 {Intelligence QTL1}, 603783 (2)
chr4 0 4500000 4p16.3 609456 MDCMP Muscular dystrophy, congenital, merosin-positive 619409 max lod at D4S432 Muscular dystrophy, congenital, merosin-positive, 609456 (2), Autosomal recessive
chr4 0 50000000 4p 603663 MHW1 Mental health wellness 1 10386 at D4S2949 {Mental health wellness-1}, 603663 (2)
chr4 0 35800000 4p16-p15 611863 MNDEC Microtia with nasolacrimal duct imperforation and eye coloboma 100188855 copy number variant (CNV) association Microtia with nasolacrimal duct imperforation and eye coloboma (1)
chr4 0 11300000 4p16 611637 PLSA1, PLSA Primary lateral sclerosis, adult, 1 100240702 max lod at D4S2936 Primary lateral sclerosis, adult, 1, 611637 (2), Autosomal dominant
chr4 0 27700000 4p16-p15.2 605480 SLEB3 Systemic lupus erythematosus, susceptibility to, 3 SLEB3 64695 {Systemic lupus erythematosus, susceptibility to, 3}, 605480 (2)
chr4 0 35800000 4p16-p15 612335 SPG38 Spastic paraplegia 38, autosomal dominant SPG38 100049707 between D4S432 and D4S1599 Spastic paraplegia 38, autosomal dominant, 612335 (2), Autosomal dominant
chr4 0 4500000 4p16.3 194190 WHS Wolf-Hirschhorn syndrome contiguous gene syndrome; critical region 200kb region 1.9Mb from telomere Wolf-Hirschhorn syndrome, 194190 (4), Isolated cases
chr4 337778 384863 4p16.3 4p16.3 194648 ZNF141, D4S90, PAPA6 Zinc finger protein-141 (clone pHZ-44) ZNF141 7700 ENSG00000131127 1 family identified with mutation ?Polydactyly, postaxial, type A6, 615226 (3), Autosomal recessive
chr4 499199 540195 4p16.3 4p16.3 616918 PIGG, GPI7, MRT53 Phosphatidylinositol glycan anchor biosynthesis class G protein PIGG 54872 ENSG00000174227 Mental retardation, autosomal recessive 53, 616917 (3), Autosomal recessive Pigg (MGI:3576484)
chr4 587324 670891 4p16.3 4p16.3 180072 PDE6B, PDEB, RP40, CSNBAD2 Phosphodiesterase-6B, cGMP-specific, rod, beta PDE6B 5158 ENSG00000133256 Night blindness, congenital stationary, autosomal dominant 2, 163500 (3), Autosomal dominant; Retinitis pigmentosa-40, 613801 (3), Autosomal recessive Pde6b (MGI:97525)
chr4 672435 674337 4p16.3 4p16.3 601519 ATP5I, ATP5K ATP synthase, H+ transporting, mitochondrial FO complex, subunit E ATP5ME 521 ENSG00000169020
chr4 674198 682032 4p16.3 4p16.3 160782 MYL5 Myosin, light polypeptide-5, regulatory MYL5 4636 ENSG00000215375
chr4 705740 770979 4p16.3 4p16.3 617543 PCGF3, RNF3, RNF3A Polycomb group RING finger protein 3 PCGF3 10336 ENSG00000185619 Pcgf3 (MGI:1916837)
chr4 784956 826156 4p16.3 4p16.3 605032 CPLX1, CPX1 Complexin 1 CPLX1 10815 ENSG00000168993 Cplx1 (MGI:104727)
chr4 849274 932389 4p16 4p16.3 602052 GAK Cyclin G associated kinase GAK 2580 ENSG00000178950 Gak (MGI:2442153)
chr4 932386 958655 4p16.3 4p16.3 616660 TMEM175 Transmembrane protein 175 TMEM175 84286 ENSG00000127419 Tmem175 (MGI:1919642)
chr4 958883 973559 4p16.3 4p16.3 601207 DGKQ, DAGK4 Diacylglycerol kinase, theta, 110kD DGKQ 1609 ENSG00000145214 Dgkq (MGI:102918)
chr4 979072 993439 4p16.3 4p16.3 610130 SLC26A1, SAT1, CAON Solute carrier family 26 (sulfate transporter), member 1 SLC26A1 10861 ENSG00000145217 mutation identified in 1 CAON patient ?Nephrolithiasis, calcium oxalate, 167030 (3), Autosomal recessive Slc26a1 (MGI:2385894)
chr4 986996 1004556 4p16.3 4p16.3 252800 IDUA, IDA Iduronidase, alpha-L- IDUA 3425 ENSG00000127415 Mucopolysaccharidosis Ih, 607014 (3), Autosomal recessive; Mucopolysaccharidosis Ih/s, 607015 (3), Autosomal recessive; Mucopolysaccharidosis Is, 607016 (3), Autosomal recessive Idua (MGI:96418)
chr4 1009929 1026897 4p16 4p16.3 605830 FGFRL1 Fibroblast growth factor receptor-like 1 FGFRL1 53834 ENSG00000127418 Fgfrl1 (MGI:2150920)
chr4 1056247 1113793 4p16.3 4p16.3 612041 RNF212, ZHP3 Ring finger protein 212 RNF212 285498 ENSG00000178222 Recombination rate QTL 1, 612042 (3) Rnf212 (MGI:3645767)
chr4 1166931 1208961 4p16.3 4p16.3 605918 SPON2 Spondin 2 SPON2 10417 ENSG00000159674 Spon2 (MGI:1923724)
chr4 1211439 1253918 4p16 4p16.3 602618 CTBP1, HADDTS C-terminal binding protein 1 CTBP1 1487 ENSG00000159692 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3), Autosomal dominant Ctbp1 (MGI:1201685)
chr4 1289850 1340147 4p16.3 4p16.3 606801 MAEA, EMP Macrophage erythroblast attacher MAEA 10296 ENSG00000090316 Maea (MGI:1891748)
chr4 1341997 1388048 4p16.3 4p16.3 614632 UVSSA, KIAA1530, UVSS3 UV-stimulated scaffold protein A UVSSA 57654 ENSG00000163945 UV-sensitive syndrome 3, 614640 (3), Autosomal recessive Uvssa (MGI:1918351)
chr4 1391551 1395993 4p16.3 4p16.3 610203 CRIPAK, FLJ3443 Cysteine-rich inhibitor of PAK1 CRIPAK 285464 ENSG00000163945
chr4 1402931 1406441 4p16.3 4p16.3 617869 NKX1-1, SAX2 NK1 homeobox 1 NKX1-1 54729 ENSG00000235608
chr4 1574054 1684312 4p16.3 4p16.3 617229 FAM53A, DNTNP Family with sequence similarity 53, member A FAM53A 152877 ENSG00000174137 Fam53a (MGI:1919225)
chr4 1692730 1715875 4p16.3 4p16.3 602422 SLBP, HBP Histone stem-loop binding protein SLBP 7884 ENSG00000163950 Slbp (MGI:108402)
chr4 1715951 1721372 4p16.3 4p16.3 615975 TMEM129 Transmembrane protein 129 TMEM129 92305 ENSG00000168936 Tmem129 (MGI:1915616)
chr4 1721489 1745177 4p16.3 4p16.3 605303 TACC3 Transforming, acidic, coiled-coil-containing protein 3 TACC3 10460 ENSG00000013810 Tacc3 (MGI:1341163)
chr4 1793298 1808871 4p16.3 4p16.3 134934 FGFR3, ACH Fibroblast growth factor receptor-3 FGFR3 2261 ENSG00000068078 Achondroplasia, 100800 (3), Autosomal dominant; Bladder cancer, somatic, 109800 (3); CATSHL syndrome, 610474 (3), Autosomal recessive, Autosomal dominant; Cervical cancer, somatic, 603956 (3); Colorectal cancer, somatic, 114500 (3); Crouzon syndrome with acanthosis nigricans, 612247 (3), Autosomal dominant; Hypochondroplasia, 146000 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant; Muenke syndrome, 602849 (3), Autosomal dominant; Nevus, epidermal, somatic, 162900 (3); SADDAN, 616482 (3), Autosomal dominant; Spermatocytic seminoma, somatic, 273300 (3); Thanatophoric dysplasia, type I, 187600 (3), Autosomal dominant; Thanatophoric dysplasia, type II, 187601 (3), Autosomal dominant Fgfr3 (MGI:95524)
chr4 1811478 1856246 4p16.3 4p16.3 604407 LETM1 Leucine zipper/EF-hand-containing transmembrane protein 1 LETM1 3954 ENSG00000168924 Letm1 (MGI:1932557)
chr4 1871395 1982206 4p16.3 4p16.3 602952 NSD2, WHSC1, MMSET Nuclear receptor-binding SET domain protein 2 NSD2 7468 ENSG00000109685 Nsd2 (MGI:1276574)
chr4 1982713 2041913 4p16.3 4p16.3 606026 WHSC2 WHS candidate 2 gene NELFA 7469 ENSG00000185049 Nelfa (MGI:1346098)
chr4 2035609 2043969 4p16.3 4p16.3 614690 C4orf48 chromosome 4 open reading frame 48 C4orf48 401115 ENSG00000243449
chr4 2059511 2069088 4p16.3 4p16.3 610647 NAT8L, CML3, NACED N-acetyltransferase 8-like NAT8L 339983 ENSG00000185818 mutation identified in 1 patient ?N-acetylaspartate deficiency, 614063 (3), Autosomal recessive Nat8l (MGI:2447776)
chr4 2071957 2242163 4p16.2 4p16.3 610887 POLN Polymerase, DNA, nu POLN 353497 ENSG00000130997
chr4 2231835 2242163 4p16.3 4p16.3 613430 HAUS3, DGT3, C4orf15 HAUS augmin-like complex, subunit 3 HAUS3 79441 ENSG00000214367 Haus3 (MGI:2387633)
chr4 2269584 2418697 4p16 4p16.3 614176 ZFYVE28, LST2, KIAA1643 Zinc finger FYVE domain-containing protein 28 ZFYVE28 57732 ENSG00000159733 Zfyve28 (MGI:2684992)
chr4 2469067 2515858 4p16.3 4p16.3 602850 RNF4 RING finger protein-4 RNF4 6047 ENSG00000063978 Rnf4 (MGI:1201691)
chr4 2741659 2756375 4p16.3 4p16.3 610669 TNIP2, ABIN2, FLIP1 TNFAIP3-interacting protein 2 TNIP2 79155 ENSG00000168884 Tnip2 (MGI:2386643)
chr4 2793022 2841095 4p16.3 4p16.3 602104 SH3BP2, CRPM SH3-domain binding protein 2 SH3BP2 6452 ENSG00000087266 Cherubism, 118400 (3), Autosomal dominant Sh3bp2 (MGI:1346349)
chr4 2843856 2930075 4p16.3 4p16.3 102680 ADD1 Adducin-1, alpha ADD1 118 ENSG00000087274 {Hypertension, essential, salt-sensitive}, 145500 (3), Multifactorial Add1 (MGI:87918)
chr4 2930555 2934858 4p16.3 4p16.3 610977 TETRAN, TPO1 Tetracycline transporter-like protein MFSD10 10227 ENSG00000109736 Mfsd10 (MGI:1915544)
chr4 2937935 2963505 4p16.3 4p16.3 611526 NOP14, NOL14, RES425 Nop14, S. cerevisiae, homolog of NOP14 8602 ENSG00000087269 Nop14 (MGI:1922666)
chr4 2963503 3040759 4p16.3 4p16.3 137026 GRK4, GPRK2L, GPRK4 G protein-coupled receptor kinase 4 GRK4 2868 ENSG00000125388 Grk4 (MGI:95801)
chr4 3074680 3243959 4p16.3 4p16.3 613004 HTT, HD, IT15, LOMARS Huntingtin HTT 3064 ENSG00000197386 distal to D4S10 Huntington disease, 143100 (3), Autosomal dominant; Lopes-Maciel-Rodan syndrome, 617435 (3), Autosomal recessive Htt (MGI:96067)
chr4 3292977 3439912 4p16.2 4p16.3 602512 RGS12 Regulator of G protein signaling 12 RGS12 6002 ENSG00000159788 Rgs12 (MGI:1918979)
chr4 3441932 3449494 4p16 4p16.3 604552 HGFAC, HGFA Hepatocyte growth factor activator HGFAC 3083 ENSG00000109758 Hgfac (MGI:1859281)
chr4 3463305 3501475 4p16.2 4p16.3 610285 DOK7, C4orf25, CMS10 Downstream of tyrosine kinase 7 DOK7 285489 ENSG00000175920 mutation identified in 1 FADS family ?Fetal akinesia deformation sequence, 208150 (3), Autosomal recessive; Myasthenic syndrome, congenital, 10, 254300 (3), Autosomal recessive Dok7 (MGI:3584043)
chr4 3503596 3532496 4p16.3 4p16.3 104225 LRPAP1, A2MRAP, MYP23 Low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1) LRPAP1 4043 ENSG00000163956 Myopia 23, autosomal recessive, 615431 (3), Autosomal recessive Lrpap1 (MGI:96829)
chr4 3766568 3768525 4p16.1 4p16.3 104250 ADRA2C, ADRA2L2 Adrenergic, alpha-2C-, receptor ADRA2C 152 ENSG00000184160 linked to D4S10 {Congestive heart failure and beta-blocker response, modifier of} (3) Adra2c (MGI:87936)
chr4 4188725 4226893 4p16.2 4p16.3 607806 OTOP1 Otopetrin 1 OTOP1 133060 ENSG00000163982 Otop1 (MGI:2388363)
chr4 4267700 4290194 4p16.3 4p16.3 617684 LYAR Ly1 antibody-reactive protein, mouse, homolog of LYAR 55646 ENSG00000145220 Lyar (MGI:107470)
chr4 4290196 4321785 4p16.3 4p16.3 616238 ZBTB49, ZNF509 Zinc finger- and BTB domain-containing protein 49 ZBTB49 166793 ENSG00000168826 Zbtb49 (MGI:1922329)
chr4 4386255 4419057 4p16.3 4p16.3 607645 D4S234E, D4S234 D4S234E gene NSG1 27065 ENSG00000168824 Nsg1 (MGI:109149)
chr4 4859664 4863935 4p16.1 4p16.2 142983 MSX1, HOX7, HYD1, OFC5, STHAG1, ECTD3 Muscle segment homeo box, Drosophila, homolog of, 1 (homeo box 7) MSX1 4487 ENSG00000163132 Ectodermal dysplasia 3, Witkop type, 189500 (3), Autosomal dominant; Orofacial cleft 5, 608874 (3); Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3), Autosomal dominant Msx1 (MGI:97168)
chr4 5014585 5019469 4p16.2 4p16.2 607930 CYTL1, C17 Cytokine-like protein 1 CYTL1 54360 ENSG00000170891 Cytl1 (MGI:2684993)
chr4 5562407 5709547 4p16 4p16.2 607261 EVC2, LBN, WAD EVC2 (limbin) gene EVC2 132884 ENSG00000173040 Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant Evc2 (MGI:1915775)
chr4 5711196 5829042 4p16 4p16.2 604831 EVC EVC gene EVC 2121 ENSG00000072840 mutation identified in 1 WAD patient Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; ?Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant Evc (MGI:1890596)
chr4 5820763 5893082 4p16.1-p15 4p16.2 602462 CRMP1, DPYSL1, DRP1 Collapsin response mediator protein-1 CRMP1 1400 ENSG00000072832 Crmp1 (MGI:107793)
chr4 6024924 6200590 4p16.2 4p16.1 611195 JAKMIP1, JAMIP1, MARLIN1 Janus kinase and microtubule-interacting protein 1 JAKMIP1 152789 ENSG00000152969 Jakmip1 (MGI:1923321)
chr4 6260367 6303264 4p16.1 4p16.1 606201 WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41 Wolframin WFS1 7466 ENSG00000109501 mutation identified in 1 CTRCT41 family ?Cataract 41, 116400 (3), Autosomal dominant; Deafness, autosomal dominant 6/14/38, 600965 (3), Autosomal dominant; {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3), Autosomal dominant; Wolfram syndrome 1, 222300 (3), Autosomal recessive; Wolfram-like syndrome, autosomal dominant, 614296 (3), Autosomal dominant Wfs1 (MGI:1328355)
chr4 6320577 6563599 4p16 4p16.1 605997 PPP2R2C, PR52 Protein phosphatase 2A, regulatory subunit B, gamma isoform PPP2R2C 5522 ENSG00000074211 Ppp2r2c (MGI:2442660)
chr4 6640090 6642744 4p16.1 4p16.1 616905 MRFAP1, PAM14, PGR1` MORF4 family- associated protein 1 MRFAP1 93621 ENSG00000179010 Mrfap1 (MGI:1914818)
chr4 6693838 6697169 4p16 4p16.1 600614 S100P S100 calcium-binding protein P S100P 6286 ENSG00000163993
chr4 6716114 6717659 4p16.1 4p16.1 605695 BLOC1S4, BLOS4, CNO Biogenesis of lysosome-related organelles complex 1, subunit 4 BLOC1S4 55330 ENSG00000186222 Bloc1s4 (MGI:1929230)
chr4 6909443 7033117 4p16.1 4p16.1 614855 TBC1D14, KIAA1322 TBC1 domain family, member 14 TBC1D14 57533 ENSG00000132405 Tbc1d14 (MGI:1098708)
chr4 7043428 7057951 4p16.1 4p16.1 608790 TADA2B, ADA2B Transcriptional adaptor 2B TADA2B 93624 ENSG00000173011 Tada2b (MGI:3035274)
chr4 7058894 7068209 4p16 4p16.1 606173 GRPEL1, HMGE GrpE, E. coli, homolog of GRPEL1 80273 ENSG00000109519 Grpel1 (MGI:1334417)
chr4 7192606 7742836 4p16.1 4p16.1 606284 SORCS2, KIAA1329 SORCS receptor 2 SORCS2 57537 ENSG00000184985 Sorcs2 (MGI:1932289)
chr4 7758712 7939925 4p16.1 4p16.1 608252 AFAP1, AFAP, AFAP110 Actin filament-associated protein 1 AFAP1 60312 ENSG00000196526 Afap1 (MGI:1917542)
chr4 7965309 8158831 4p16 4p16.1 612544 ABLIM2, KIAA1808 Actin-binding LIM protein family, member 2 ABLIM2 84448 ENSG00000163995 Ablim2 (MGI:2385758)
chr4 8005300 8005380 Chr.4 4p16.1 613185 MIR95, MIRN95 Micro RNA 95 MIR95 407052
chr4 8269711 8307110 4p16.1 4p16.1 608785 HTRA3, PRSP HTRA serine peptidase 3 HTRA3 94031 ENSG00000170801 Htra3 (MGI:1925808)
chr4 8366262 8440724 4p15.3 4p16.1 603402 ACOX3 Acyl-coenzyme A oxidase 3, pristanoyl ACOX3 8310 ENSG00000087008 Acox3 (MGI:1933156)
chr4 8440773 8512530 4p15 4p16.1 614309 METTL19 Methyltransferase-like 19 TRMT44 152992 ENSG00000155275 Trmt44 (MGI:1926140)
chr4 8580236 8590022 4p16.1 4p16.1 606921 GPR78 G protein-coupled receptor 78 GPR78 27201 ENSG00000155269
chr4 8592659 8619760 4p16.1 4p16.1 603105 CPZ Carboxypeptidase Z CPZ 8532 ENSG00000109625 Cpz (MGI:88487)
chr4 8846075 8871816 4p16.1 4p16.1 142992 HMX1, H6 Homeo box (H6 family) 1 HMX1 3166 ENSG00000215612 Oculoauricular syndrome, 612109 (3), Autosomal recessive Hmx1 (MGI:107178)
chr4 9358381 9359973 4p16.1 4p16.1 607011 USP17L9P, USP17 Ubiquitin-specific protease 17-like family member 9, pseudogene USP17L9P 391627
chr4 9771124 10040247 4p16-p15.3 4p16.1 606142 SLC2A9, GLUT9, UAQTL2 Solute carrier family 2 (facilitated glucose transporter), member 9 SLC2A9 56606 ENSG00000109667 Hypouricemia, renal, 2, 612076 (3), Autosomal recessive, Autosomal dominant; {Uric acid concentration, serum, QTL 2}, 612076 (3), Autosomal recessive, Autosomal dominant Slc2a9 (MGI:2152844)
chr4 9781633 9784008 4p16.1-p15.3 4p16.1 126453 DRD5, DRD1B, DRD1L2 Dopamine receptor D5 DRD5 1816 ENSG00000169676 pseudogenes on 2p11 and 1q21 {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3), Autosomal dominant; {Blepharospasm, primary benign}, 606798 (3), Isolated cases; Dystonia, primary cervical (3) Drd5 (MGI:94927)
chr4 10074338 10117033 4p 4p16.1 604734 WDR1 WD repeat-containing protein 1 WDR1 9948 ENSG00000071127 Wdr1 (MGI:1337100)
chr4 10439879 10457422 4p16.1 4p16.1 617734 ZNF518B, KIAA1729 Zinc finger protein 518B ZNF518B 85460 ENSG00000178163 Zfp518b (MGI:2140750)
chr4 10486404 10734852 4p16.1 4p16.1 611434 CLNK, MIST Cytokine-dependent hematopoietic cell linker CLNK 116449 ENSG00000109684 Clnk (MGI:1351468)
chr4 11300000 41200000 4p15-p14 608410 BMIQ7 Body mass index quantitative trait locus 7 404683 {Obesity, susceptibility to, BMIQ7}, 608410 (2)
chr4 11300000 35800000 4p15 607221 EPPS Epilepsy, partial, with pericentral spikes 266789 Epilepsy, partial, with pericentral spikes, 607221 (2)
chr4 11300000 21300000 4p15.3 604802 HDL3, HLN2 Huntington disease-like 3 53369 Huntington disease-like 3, 604802 (2), Autosomal recessive
chr4 11300000 21300000 4p15.3 612226 STQTL13 Stature quantitative trait locus 13 100270796 associated with rs16896068 {Stature QTL 13}, 612226 (2)
chr4 11393149 11434397 4p15.33 4p15.33 603244 HS3ST1, 3OST, 3OST1 Heparan sulfate (glucosamine)3-O-sulfotransferase 1 HS3ST1 9957 ENSG00000002587 Hs3st1 (MGI:1201606)
chr4 13367722 13484364 4p15.33 4p15.33 612994 RAB28, CORD18 Ras-associated protein 28 RAB28 9364 ENSG00000157869 Cone-rod dystrophy 18, 615374 (3), Autosomal recessive Rab28 (MGI:1917285)
chr4 13540829 13544489 4p16.1 4p15.33 602183 NKX3-2, BAPX1, SMMD Bagpipe homeo box, Drosophila, homolog of NKX3-2 579 ENSG00000109705 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive Nkx3-2 (MGI:108015)
chr4 13568737 13627720 4p16.1 4p15.33 616746 BOD1L1, FAM44A BOD1-like protein 1 BOD1L1 259282 ENSG00000038219 Bod1l (MGI:2444804)
chr4 15002425 15070152 4q32-q33 4p15.32 610605 CPEB2 Cytoplasmic polyadenylation element-binding protein 2 CPEB2 132864 ENSG00000137449 Cpeb2 (MGI:2442640)
chr4 15468659 15601970 4p15.3 4p15.32 612013 CC2D2A, KIAA1345, MKS6 Coiled-coil and C2 domains-containing protein 2A CC2D2A 57545 ENSG00000048342 COACH syndrome, 216360 (3), Autosomal recessive; Joubert syndrome 9, 612285 (3), Autosomal recessive; Meckel syndrome 6, 612284 (3), Autosomal recessive Cc2d2a (MGI:1924487)
chr4 15604383 15681543 4p15.33 4p15.32 605655 FBXL5, FBL5 F-box and leucine-rich repeat protein 5 FBXL5 26234 ENSG00000118564 Fbxl5 (MGI:2152883)
chr4 15701865 15774177 4p15.32 4p15.32 600387 BST1 Bone marrow stromal cell antigen 1 BST1 683 ENSG00000109743 previously assigned to 14q32.3 Bst1 (MGI:105370)
chr4 15778264 15853242 4p15 4p15.32 107270 CD38 CD38 antigen (p45); ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase CD38 952 ENSG00000004468 Cd38 (MGI:107474)
chr4 15935568 15938739 4p15.3 4p15.32 607737 FGFBP1, FGFBP, HBP17 Fibroblast growth factor-binding protein 1 FGFBP1 9982 ENSG00000137440 Fgfbp1 (MGI:1096350)
chr4 15960239 15963235 4p16 4p15.32 607713 KSP37 Killer-specific secretory protein, 37kD FGFBP2 83888 ENSG00000137441
chr4 15968225 16084058 4p15.3 4p15.32 604365 PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4 Prominin 1 PROM1 8842 ENSG00000007062 Cone-rod dystrophy 12, 612657 (3); Macular dystrophy, retinal, 2, 608051 (3), Autosomal dominant; Retinitis pigmentosa 41, 612095 (3), Autosomal recessive; Stargardt disease 4, 603786 (3) Prom1 (MGI:1100886)
chr4 16160504 16226537 4p15.32 4p15.32 612758 TAPT1, CMVFR, OCLSBG Transmembrane anterior posterior transformation 1 TAPT1 202018 ENSG00000169762 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3), Autosomal recessive Tapt1 (MGI:2683537)
chr4 16501533 16898808 4p15 4p15.32 603450 LDB2, CLIM1 LIM domain-binding factor-2 LDB2 9079 ENSG00000169744 Ldb2 (MGI:894670)
chr4 17486392 17512233 4p15.31 4p15.32 612676 QDPR, DHPR Quinoid dihydropteridine reductase QDPR 5860 ENSG00000151552 Hyperphenylalaninemia, BH4-deficient, C, 261630 (3), Autosomal recessive Qdpr (MGI:97836)
chr4 17577303 17607966 4p11-q12 4p15.32 170250 PEPS Peptidase S LAP3 51056 ENSG00000002549 Lap3 (MGI:1914238)
chr4 17614627 17625627 4p15.32 4p15.32 610311 MED28, EG1, MAGICIN Mediator complex subunit 28 MED28 80306 ENSG00000118579 Med28 (MGI:1914249)
chr4 17810812 17844864 4p15.3 4p15.31 606280 NCAPG, CAPG Non-SMC condensin I complex subunit G NCAPG 64151 ENSG00000109805 Ncapg (MGI:1930197)
chr4 17841198 18023286 4p15.3 4p15.31 611799 LCORL, MLR1 Ligand-dependent nuclear receptor corepressor-like protein LCORL 254251 ENSG00000178177 Lcorl (MGI:2651932)
chr4 20251904 20620560 4p15.2 4p15.31 603746 SLIT2 Slit, Drosophila, homolog of, 2 SLIT2 9353 ENSG00000145147 Slit2 (MGI:1315205)
chr4 20528274 20528383 4p15.31 4p15.31 616770 MIR218-1 Micro RNA 218-1 MIR218-1 407000 within intron of SLIT2
chr4 20728519 21948750 4p15.3 4p15.3-p15.2 608182 KCNIP4, KCHIP4 Kv channel-interacting protein 4 KCNIP4 80333 ENSG00000185774 Kcnip4 (MGI:1933131)
chr4 22387373 22516057 4p15.2 4p15.2 612303 ADGRA3, GPR125 Adhesion G protein-coupled receptor A3 ADGRA3 166647 ENSG00000152990 Adgra3 (MGI:1917943)
chr4 22692913 22819574 4p15.31 4p15.2 606619 GBA3, CBGL1 Glucosidase, beta, acid 3 GBA3 57733 ENSG00000249948
chr4 23792020 24472828 4p15.1 4p15.2 604517 PPARGC1A, PPARGC1 Peroxisome proliferator-activated receptor-gamma, coactivator 1, alpha PPARGC1A 10891 ENSG00000109819 Ppargc1a (MGI:1342774)
chr4 24527463 24584560 4p15.3 4p15.2 603403 DHX15, DDX15, DBP1, HRH2 DEAH (Asp-Glu-Ala-His) box polypeptide 15 DHX15 1665 ENSG00000109606 Dhx15 (MGI:1099786)
chr4 24795462 24800844 4p15.3-p15.1 4p15.2 185490 SOD3 Superoxide dismutase-3, extracellular SOD3 6649 ENSG00000109610 [Superoxide dismutase, elevated extracellular] (3) Sod3 (MGI:103181)
chr4 24991959 25030791 4p15.2 4p15.2 608301 LGI2, KIAA1916 Leucine-rich gene, glioma-inactivated, 2 LGI2 55203 ENSG00000153012 Lgi2 (MGI:2180196)
chr4 25120004 25160581 4p15.2 4p15.2 613009 SEPSECS, SLA, LP, PCH2D O-phosphoserine tRNA-selenocysteine tRNA synthase SEPSECS 51091 ENSG00000109618 Pontocerebellar hypoplasia type 2D, 613811 (3), Autosomal recessive Sepsecs (MGI:1098791)
chr4 25234030 25279208 4p15.2 4p15.2 612101 PI4K2B Phosphatidylinositol 4-kinase, type 2, beta PI4K2B 55300 ENSG00000281028 Pi4k2b (MGI:1914323)
chr4 25312773 25373175 4p15.2 4p15.2 611792 ZCCHC4 Zinc finger CCHC domain-containing protein 4 ZCCHC4 29063 ENSG00000168228 Zcchc4 (MGI:1926046)
chr4 25377225 25418497 4p15.2 4p15.2 606947 ANAPC4, APC4 Anaphase-promoting complex, subunit 4 ANAPC4 29945 ENSG00000053900 Anapc4 (MGI:1098673)
chr4 25655812 25678747 4p15.31-p15.2 4p15.2 604217 SLC34A2 Solute carrier family 34 (sodium/phosphate cotransporter), member 2 SLC34A2 10568 ENSG00000157765 Pulmonary alveolar microlithiasis, 265100 (3), Autosomal recessive Slc34a2 (MGI:1342284)
chr4 25914191 25929878 4p15.2 4p15.2 617465 SMIM20, MITRAC7, C4orf52 Small integral membrane protein 20 SMIM20 389203 ENSG00000250317 Smim20 (MGI:1913528)
chr4 26163488 26435130 4p15.2 4p15.2 147183 RBPJ, RBPSUH, IGKJRB1, AOS3 Recombination signal-binding protein 1 for kappa J region RBPJ 3516 ENSG00000168214 pseudogenes at 9q13, 9p13, and 3q25 Adams-Oliver syndrome 3, 614814 (3), Autosomal dominant Rbpj (MGI:96522)
chr4 26481395 26490419 4p15.2-p15.1 4p15.2 118444 CCKAR Cholecystokinin A receptor CCKAR 886 ENSG00000163394 Cckar (MGI:99478)
chr4 26860690 27025380 4p15.1 4p15.2 610841 STIM2, KIAA1482 Stromal interaction molecule 2 STIM2 57620 ENSG00000109689 Stim2 (MGI:2151156)
chr4 27700000 58500000 4p15.1-q12 607107 NPC1, NPCA1 Nasopharyngeal carcinoma 1 257641 ?associated with acyl-CoA thioesterase 7-like {Nasopharyngeal carcinoma 1}, 607107 (2)
chr4 30719860 31146800 4p15 4p15.1 602988 PCDH7, BHPCDH Protocadherin-7 PCDH7 5099 ENSG00000169851 Pcdh7 (MGI:1860487)
chr4 35800000 41200000 4p14 614991 UCH1LAS Ubiquitin carboxyl-terminal esterase L1, antisense 101180899
chr4 36005185 36244832 4p14 4p14 606645 ARAP2, CENTD1, KIAA0580 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 ARAP2 116984 ENSG00000047365 Arap2 (MGI:2684416)
chr4 36281592 36347510 4p14 4p14 616979 DTHD1 Death domain-containing protein 1 DTHD1 401124 ENSG00000197057 Dthd1 (MGI:4937018)
chr4 37590799 37686402 4p14 4p14 611212 RELL1 Relt-like 1 RELL1 768211 ENSG00000181826 Rell1 (MGI:2140767)
chr4 37826659 37862937 4p14-q12 4p14 172000 PGM2 Phosphoglucomutase-2 PGM2 55276 ENSG00000169299 Pgm1 (MGI:97564)
chr4 37891083 38139174 4p15.1-q21 4p14 609850 TBC1D1, KIAA1108 TBC1 domain family, member 1 TBC1D1 23216 ENSG00000065882 Tbc1d1 (MGI:1889508)
chr4 37960434 37961009 4p12 4p14 604231 PTTG2 Pituitary tumor-transforming gene 2 PTTG2 10744 ENSG00000250254
chr4 38664078 38701507 4p14 4p14 609392 KLF3, BKLF Kruppel-like factor 3 KLF3 51274 ENSG00000109787 Klf3 (MGI:1342773)
chr4 38791054 38806261 4p14 4p14 601194 TLR1, TIL. LPRS5 Toll-like receptor-1 TLR1 7096 ENSG00000174125 {Leprosy, protection against}, 613223 (3); {Leprosy, susceptibility to, 5}, 613223 (3) Tlr1 (MGI:1341295)
chr4 38823679 38857766 4p14 4p14 605403 TLR6 Toll-like receptor 6 TLR6 10333 ENSG00000174130 Tlr6 (MGI:1341296)
chr4 38868031 38868126 4p14 4p14 615469 MIR574, MIR574-3p Micro RNA 574 MIR574 693159
chr4 39044673 39143100 4p15.1-p13 4p14 608064 KLHL5 Kelch-like 5 KLHL5 51088 ENSG00000109790 Klhl5 (MGI:1919028)
chr4 39182403 39285809 4p14-p11 4p14 608151 WDR19, SRTD5, ATD5, NPHP13, CED4 WD repeat-containing protein 19 WDR19 57728 ENSG00000157796 mutation identified in 1 CED4 family and 1 SRTD5 family ?Cranioectodermal dysplasia 4, 614378 (3), Autosomal recessive; Nephronophthisis 13, 614377 (3), Autosomal recessive; Senior-Loken syndrome 8, 616307 (3), Autosomal recessive; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3), Autosomal recessive Wdr19 (MGI:2443231)
chr4 39287448 39366380 4p14-p13 4p14 102579 RFC1, RECC1 Replication factor C1, 145kD (activator 1, 145kD) RFC1 5981 ENSG00000035928 Rfc1 (MGI:97891)
chr4 39406852 39451532 4p14 4p14 611135 KLB, BKL Klotho, beta KLB 152831 ENSG00000134962 Klb (MGI:1932466)
chr4 39454123 39458947 4p13 4p14 603686 RPL9 Ribosomal protein L9 RPL9 6133 ENSG00000163682 pseudogene on Xpter-p21 Rpl9 (MGI:1298373)
chr4 39459021 39477652 4p14 4p14 607031 LIAS, PDHLD, HGCLAS Lipoic acid synthase LIAS 11019 ENSG00000121897 Hyperglycinemia, lactic acidosis, and seizures, 614462 (3), Autosomal recessive Lias (MGI:1934604)
chr4 39498754 39527597 4p15.1 4p14 603370 UGDH, UDPGDH UDP-glucose dehydrogenase UGDH 7358 ENSG00000109814 Ugdh (MGI:1306785)
chr4 39698043 39782791 4p14 4p14 602846 HIP2 Huntingtin-interacting protein-2 UBE2K 3093 ENSG00000078140 Ube2k (MGI:1858216)
chr4 39822862 39977955 4p14 4p14 613200 PDS5A, KIAA0648, SCC112 PDS5, regulator of cohesion maintenance, S. Cerevisiae, homolog of, A PDS5A 23244 ENSG00000121892 Pds5a (MGI:1918771)
chr4 40042916 40057198 4p14-p11 4p14 611963 LOC344967 Acyl-CoA thioesterase 7-like 344967 ?associated with nasopharyngeal carcinoma
chr4 40191010 40244763 4p13 4p14 602037 ARHH, TTF Ras homolog gene family, member H RHOH 399 ENSG00000168421 Rhoh (MGI:1921984)
chr4 40335328 40355216 4p15.1-p14 4p14 605116 CHRNA9 Cholinergic receptor, neuronal nicotinic, alpha polypeptide 9 CHRNA9 55584 ENSG00000174343 Chrna9 (MGI:1202403)
chr4 40749873 40815728 4p14 4p14 617185 NSUN7 NOP2/SUN RNA methyltransferase family, member 7 NSUN7 79730 ENSG00000179299 Nsun7 (MGI:1918168)
chr4 40810026 41216713 4p14 4p14-p13 602710 APBB2, FE65L1 Amyloid beta A4 precursor protein-binding, family B, member 2 (Fe65-like 1) APBB2 323 ENSG00000163697 Apbb2 (MGI:108405)
chr4 41200000 87100000 4p13-q21 605841 NRCLP2 Narcolepsy 2 100918 max lod at D4S2987 Narcolepsy 2, 605841 (2)
chr4 41256880 41268428 4p14 4p13 191342 UCHL1, PARK5, SPG79, NDGOA Ubiquitin C-terminal esterase L1 UCHL1 7345 ENSG00000154277 mutation identified in 1 PARK5 family {?Parkinson disease 5, susceptibility to}, 613643 (3); Spastic paraplegia 79, autosomal recessive, 615491 (3), Autosomal recessive Uchl1 (MGI:103149)
chr4 41359606 41700043 4p13 4p13 617750 LIMCH1, LMO7B LIM and calponin homology domains-containing protein 1 LIMCH1 22998 ENSG00000064042 Limch1 (MGI:1924819)
chr4 41744081 41748969 4p12 4p13 603851 PHOX2B, NBPHOX, PMX2B, NBLST2, CCHS Paired mesoderm homeo box 2B PHOX2B 8929 ENSG00000109132 Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3), Autosomal dominant; Neuroblastoma with Hirschsprung disease, 613013 (3); {Neuroblastoma, susceptibility to, 2}, 613013 (3) Phox2b (MGI:1100882)
chr4 41990501 42087533 4p13 4p13 604604 SLC30A9, C4orf1, HUEL, BILAPES Solute carrier family 30 (zinc transporter), member 9 SLC30A9 10463 ENSG00000014824 mutation identified in 1 BILAPES family ?Birk-Landau-Perez syndrome, 617595 (3), Autosomal recessive Slc30a9 (MGI:1923690)
chr4 42397323 42402486 4p13 4p13 617325 SHISA3 Shisa family, member 3 SHISA3 152573 ENSG00000178343 Shisa3 (MGI:3041225)
chr4 42893265 43030657 4p13 4p13 613283 GRXCR1 Glutaredoxin, cysteine-rich, 1 GRXCR1 389207 ENSG00000215203 Deafness, autosomal recessive 25, 613285 (3), Autosomal recessive Grxcr1 (MGI:3577767)
chr4 44678394 44700680 4p12 4p12 617064 GUF1, EF4, EIEE40 GTPase, S. cerevisiae, homolog of GUF1 60558 ENSG00000151806 mutation identified in 1 EIEE40 family ?Epileptic encephalopathy, early infantile, 40, 617065 (3), Autosomal recessive Guf1 (MGI:2140726)
chr4 44701794 44726633 4p13 4p12 613222 GNPDA2, GNP2 Glucosamine-6-phosphate deaminase 2 GNPDA2 132789 ENSG00000163281 Gnpda2 (MGI:1915230)
chr4 46035768 46124064 4p14-q21.1 4p12 137166 GABRG1 Gamma-aminobutyric acid (GABA) A receptor, gamma-1 GABRG1 2565 ENSG00000163285 Gabrg1 (MGI:103156)
chr4 46243547 46390348 4p13-p12 4p12 137140 GABRA2 Gamma-aminobutyric acid (GABA) A receptor, alpha-2 GABRA2 2555 ENSG00000151834 {Alcohol dependence, susceptibility to}, 103780 (3), Multifactorial Gabra2 (MGI:95614)
chr4 46734826 46909265 4p12 4p12 609811 COX7B2 Cytochrome C oxidase subunit VIIb2 COX7B2 170712 ENSG00000170516
chr4 46918899 46994406 4p14-q12 4p12 137141 GABRA4 Gamma-aminobutyric acid (GABA) A receptor, alpha-4 GABRA4 2557 ENSG00000109158 cluster with GABRA2, B1, G1; ?involved in autism Gabra4 (MGI:95616)
chr4 46993559 47438408 4p13-p12 4p12 137190 GABRB1, EIEE45 Gamma-aminobutyric acid (GABA) A receptor, beta-1 GABRB1 2560 ENSG00000163288 Epileptic encephalopathy, early infantile, 45, 617153 (3), Autosomal dominant Gabrb1 (MGI:95619)
chr4 47450786 47463729 4p12 4p12 616656 COMMD8 COMM domain-containing protein 8 COMMD8 54951 ENSG00000169019 Commd8 (MGI:1343485)
chr4 47593997 47838105 4p12 4p12 605236 CORIN, CRN, TMPRSS10, ATC2, PEE5 Corin, serine peptidase CORIN 10699 ENSG00000145244 Preeclampsia/eclampsia 5, 614595 (3) Corin (MGI:1349451)
chr4 47935014 48016717 4p12-cen 4p12 123825 CNGA1, CNCG1, RP49 Cyclic nucleotide gated channel, alpha 1 CNGA1 1259 ENSG00000198515 Retinitis pigmentosa 49, 613756 (3) Cnga1 (MGI:88436)
chr4 48063503 48135321 4p12 4p12 600058 TXK, BTKL TXK tyrosine kinase TXK 7294 ENSG00000074966 Txk (MGI:102960)
chr4 48135782 48269863 4p12 4p12-p11 600583 TEC tec protein tyrosine kinase TEC 7006 ENSG00000135605 Tec (MGI:98662)
chr4 48341474 48426197 4p11 4p11 610492 SLAIN2, KIAA1458 SLAIN motif family, member 2 SLAIN2 57606 ENSG00000109171 Slain2 (MGI:1923241)
chr4 48490251 48499350 4p11 4p11 607520 ZAR1 Zygote arrest 1 ZAR1 326340 ENSG00000182223 Zar1 (MGI:2180337)
chr4 50000000 190214555 4q 603664 MHW2 Mental health wellness 2 50979 at D4S397 {Mental health wellness-2}, 603664 (2)
chr4 50000000 190214555 4q 601454 PSORS3 Psoriasis susceptibility 3 PSORS3 7889 {Psoriasis susceptibility 3}, 601454 (2)
chr4 50000000 190214555 4q 610430 WM2 Macroglobulinemia, Waldenstrom, susceptibility to, 2 100188811 between D4S2910 and D4S1539 {Macroglobulinemia, Waldenstrom, susceptibility to, 2}, 610430 (2)
chr4 51800000 65500000 4q12-q13.1 612431 DFNA27 Deafness, autosomal dominant 27 DFNA27 23722 max lod at D4S398 Deafness, autosomal dominant 27, 612431 (2), Autosomal dominant
chr4 51800000 69400000 4q12-q13.2 609952 DFNB55 Deafness, autosomal recessive 55 DFNB55 494148 max lod at D4S2638 Deafness, autosomal recessive 55, 609952 (2), Autosomal recessive
chr4 51800000 65500000 4q12-q13.1 614329 MRT31 Mental retardation, autosomal recessive 31 100852399 between rs11944876 and rs6551838 Mental retardation, autosomal recessive 31, 614329 (2), Autosomal recessive
chr4 51800000 58500000 4q12 609258 MYP9 Myopia 9 MYP9 553194 Myopia 9, 609258 (2), Multifactorial
chr4 51800000 58500000 4q12 106700 TAPVR1 Total anomalous pulmonary venous return 1 TAPVR1 6893 between D4S1630 and D4S3019; ?mutation in KDR Total anomalous pulmonary venous return, 106700 (2), Autosomal dominant
chr4 51842999 51916836 4q12 4q12 612977 DCUN1D4, KIAA0276 DCN1 domain-containing protein 4 DCUN1D4 23142 ENSG00000109184 Dcun1d4 (MGI:2140972)
chr4 52020694 52038318 4q12 4q12 600900 SGCB, LGMD2E Sarcoglycan, beta (43kD dystrophin-associated glycoprotein) SGCB 6443 ENSG00000163069 Muscular dystrophy, limb-girdle, type 2E, 604286 (3), Autosomal recessive Sgcb (MGI:1346523)
chr4 52051330 52097304 4q11-q12 4q12 612814 SPATA18, SPETEX1 Spermatogenesis-associated protein 18 SPATA18 132671 ENSG00000163071 Spata18 (MGI:1920722)
chr4 52590959 52659334 4q12 4q12 612849 USP46 Ubiquitin-specific peptidase 46 USP46 64854 ENSG00000109189 Usp46 (MGI:1916977)
chr4 52712393 52720696 4q12 4q12 614625 DANCR, ANCR, KIAA0114 Differentiation-antagonizing noncoding RNA DANCR 57291
chr4 52712681 52712746 4q12 4q12 614627 MIR4449 Micro RNA 4449 MIR4449 100616436
chr4 52713248 52713369 4q12 4q12 614626 SNORA26 Small nucleolar RNA, H/ACA box, 26 SNORA26 677810
chr4 52862327 52866834 4q12 4q12 612404 RASL11B RAS-like, family 11, member B RASL11B 65997 ENSG00000128045 Rasl11b (MGI:1916189)
chr4 53377571 53462610 4q12 4q12 607686 FIP1L1 Fip1-like 1 FIP1L1 81608 ENSG00000145216 fused to PDGFRA in hypereosinophilic syndrome
chr4 53458263 53652524 4q12 4q12 609732 LNX1, LNX, PDZRN2 Ligand of numb protein X1 LNX1 84708 ENSG00000072201 Lnx1 (MGI:1278335)
chr4 53996334 54064689 4q11-q12 4q12 604332 CHIC2, BTL Cysteine-rich hydrophobic domain 2 (Brx-like gene translocated in leukemia) CHIC2 26511 ENSG00000109220 {Leukemia, acute myeloid}, 601626 (3), Autosomal dominant Chic2 (MGI:1921527)
chr4 54100080 54101954 4q12 4q12 616253 GSX2, GSH2 GS homeobox 2 GSX2 170825 ENSG00000180613 Gsx2 (MGI:95843)
chr4 54229088 54298246 4q12 4q12 173490 PDGFRA Platelet-derived growth factor receptor, alpha polypeptide PDGFRA 5156 ENSG00000134853 same 700bp segment as KIT; fused to BCR or FIP1L1 Gastrointestinal stromal tumor, somatic, 606764 (3); Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3), Isolated cases, Somatic mutation Pdgfra (MGI:97530)
chr4 54657927 54740714 4q12 4q12 164920 KIT, PBT Hardy-Zuckerman 4 feline sarcoma (v-kit) oncogene KIT 3815 ENSG00000157404 same 700bp segment as PDGFRA Gastrointestinal stromal tumor, familial, 606764 (3), Autosomal dominant, Isolated cases; Germ cell tumors, somatic, 273300 (3); Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Mast cell disease, 154800 (3), Autosomal dominant; Piebaldism, 172800 (3), Autosomal dominant Kit (MGI:96677)
chr4 55078480 55125594 4q12 4q12 191306 KDR Kinase insert domain receptor KDR 3791 ENSG00000128052 ?mutant in TAPVR1 Hemangioma, capillary infantile, somatic, 602089 (3); {Hemangioma, capillary infantile, susceptibility to}, 602089 (3), Autosomal dominant Kdr (MGI:96683)
chr4 55346220 55373099 4q12 4q12 611715 SRD5A3, SRD5A2L, CDG1Q, KRIZI Steroid 5-alpha-reductase 3 SRD5A3 79644 ENSG00000128039 Congenital disorder of glycosylation, type Iq, 612379 (3), Autosomal recessive; Kahrizi syndrome, 612713 (3), Autosomal recessive Srd5a3 (MGI:1930252)
chr4 55395652 55453396 4q12 4q12 614726 TMEM165, FT27, CDG2K Transmembrane protein 165 TMEM165 55858 ENSG00000134851 Congenital disorder of glycosylation, type IIk, 614727 (3), Autosomal recessive Tmem165 (MGI:894407)
chr4 55427900 55547137 4q12 4q12 601851 CLOCK Circadian locomotor output cycles kaput CLOCK 9575 ENSG00000134852 Clock (MGI:99698)
chr4 55556522 55592273 4q11 4q12 611676 PDCL2 Phosducin-like 2 PDCL2 132954 ENSG00000163440 Pdcl2 (MGI:1890655)
chr4 55853647 55905077 4q12 4q12 607879 EXOC1, SEC3 Exocyst complex component 1 EXOC1 55763 ENSG00000090989 Exoc1 (MGI:2445020)
chr4 55948807 56033362 4q12 4q12 611423 CEP135, KIAA0635, MCPH8 Centrosomal protein, 135kD CEP135 9662 ENSG00000174799 Microcephaly 8, primary, autosomal recessive, 614673 (3), Autosomal recessive Cep135 (MGI:2681869)
chr4 56337686 56389417 4q12 4q12 614365 AASDH, ACSF4 Aminoadipate-semialdehyde dehydrogenase AASDH 132949 ENSG00000157426 Aasdh (MGI:2442517)
chr4 56393361 56435635 4q12 4q12 172450 PPAT, GPAT Phosphoribosylpyrophosphate amidotransferase PPAT 5471 ENSG00000128059 Ppat (MGI:2387203)
chr4 56435748 56461367 4q12 4q12 172439 PAICS, AIRC Phosphoribosylaminoimidazole carboxylase PAICS 10606 ENSG00000128050 bifunctional enzyme; ade-D; 625bp from PPAT Paics (MGI:1914304)
chr4 56467595 56503680 4q12 4q12 602122 SRP72, BMFS1 Signal recognition particle, 72kD SRP72 6731 ENSG00000174780 Bone marrow failure syndrome 1, 614675 (3), Autosomal dominant Srp72 (MGI:1333795)
chr4 56505208 56523982 4q12 4q12 612405 ARL9 ADP-ribosylation factor-like 9 ARL9 132946 ENSG00000196503 Arl9 (MGI:1915496)
chr4 56647987 56681865 4q11-q12 4q12 607275 HOPX, HOP HOP homeobox HOPX 84525 ENSG00000171476 Hopx (MGI:1916782)
chr4 56809859 56822209 4q12 4q12 605753 SPINK2 Serine protease inhibitor, Kazal-type, 2 SPINK2 6691 ENSG00000128040
chr4 56907875 56935846 4q12 4q12 600571 REST, NRSF, WT6, GINGF5, HGF5 RE1-silencing transcription factor REST 5978 ENSG00000084093 Fibromatosis, gingival, 5, 617626 (3), Autosomal dominant; {Wilms tumor 6, susceptibility to}, 616806 (3) Rest (MGI:104897)
chr4 56963343 56977659 4q12 4q12 614919 NOA1, C4orf14 Nitric oxide-associated protein 1 NOA1 84273 ENSG00000084092 Noa1 (MGI:1914306)
chr4 56978639 57031161 4q12 4q12 180661 POL2RB Polymerase (RNA) II (DNA directed) polypeptide B, 140kD POLR2B 5431 ENSG00000047315 Polr2b (MGI:2388280)
chr4 57031070 57110384 4q12 4q12 602867 IGFBP7, MAC25, RAMSVPS Insulin-like growth factor-binding protein-7 IGFBP7 3490 ENSG00000163453 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3), Autosomal recessive Igfbp7 (MGI:1352480)
chr4 58500000 87100000 4q13-q21 609400 AIS4, VAMAS5 Autoimmune disease, susceptibility to, 4 619405 between D4S392 and D4S3042 {Autoimmune disease, susceptibility to, 4}, 609400 (2)
chr4 61201255 62078334 4q13.1 4q13.1 616417 ADGRL3, LPHN3, CIRL3, CL3, LEC3, KIAA0768 Adhesion G protein-coupled receptor L3 ADGRL3 23284 ENSG00000150471 Adgrl3 (MGI:2441950)
chr4 64276297 64409509 4q13.1 4q13.1 617242 TECRL, TERL, SRD5A2L2, GPSN2L, CPVT3 Trans-2,3-enoyl-CoA reductase-like protein TECRL 253017 ENSG00000205678 Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3), Autosomal recessive Tecrl (MGI:2444966)
chr4 65319562 65670494 4q13 4q13.1-q13.2 600004 EPHA5, TYRO4, HEK7 Ephrin receptor EphA5 EPHA5 2044 ENSG00000145242 Epha5 (MGI:99654)
chr4 65500000 87100000 4q13.2-q21.3 611630 ETL3, FMTLE Epilepsy, familial temporal lobe, 3 100188848 max lod at D4S1517 Epilepsy, familial temporal lobe, 3, 611630 (2), Autosomal dominant
chr4 67468761 67545537 4q12-q13.3 4q13.2 117141 CENPC1, CENPC Centromere autoantigen C1 CENPC 1060 ENSG00000145241 ?pseudogene on chr.12 Cenpc1 (MGI:99700)
chr4 67558696 67607340 4q13.2 4q13.2 604298 STAP1, BRDG1 Signal transducing adaptor family member 1 STAP1 26228 ENSG00000035720 Stap1 (MGI:1926193)
chr4 67615760 67701170 4q13.2 4q13.2 611361 UBA6, UBE1L2 Ubiquitin activating enzyme 6 UBA6 55236 ENSG00000033178 Uba6 (MGI:1913894)
chr4 67737374 67756085 4q21.2 4q13.2 138850 GNRHR, LHRHR, HH7 Gonadotropin-releasing hormone receptor GNRHR 2798 ENSG00000109163 placed at 4q12 or 4q13 by some Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3), Autosomal recessive Gnrhr (MGI:95790)
chr4 67910300 67963513 4q13.2 4q13.2 611704 TMPRSS11A, ECRG1 Transmembrane protease, serine 11A TMPRSS11A 339967 ENSG00000187054 Tmprss11a (MGI:2684853)
chr4 68038415 68042510 4q12 4q13.2 608311 GRINL1B Glutamate receptor, ionotropic, N-methyl D-aspartate-like 1B GCOM2 339970
chr4 68060609 68063296 4q13.2 4q13.2 610892 SYT14L, SYTDEP, CHR415SYT Synaptotagmin 14-like protein SYT14P1 401135
chr4 68310386 68350116 4q13.2 4q13.2 617283 YTHDC1, KIAA1966 TYH domain-containing protein 1 YTHDC1 91746 ENSG00000083896 Ythdc1 (MGI:2443713)
chr4 68447448 68497603 4q13.2 4q13.2 610399 TMPRSS11E, DESC1 Transmembrane protease, serine 11E TMPRSS11E 28983 ENSG00000087128 Tmprss11e (MGI:3513175)
chr4 68537183 68576353 4q13 4q13.2 601903 UGT2B17, BMND12 UDP-glucuronyltransferase, family 2, beta-17 UGT2B17 7367 ENSG00000197888 {Bone mineral density QTL 12, osteoporosis}, 612560 (3) Ugt2b1 (MGI:1919023)
chr4 68646596 68670775 4q13 4q13.2 600069 UGT2B15, UGT2B8 UDP-glucuronyltransferase, family 2, beta-15 UGT2B15 7366 ENSG00000196620
chr4 68815992 68832037 4q13.2 4q13.2 600070 UGT2B10 Uridine diphosphate glycosyltransferase 2 family, member B10 UGT2B10 7365 ENSG00000109181 Ugt2b34 (MGI:2140962)
chr4 68928458 68951799 4q13 4q13.2 616382 UGT2A3 Uridine diphosphate glucuronosyltransferase 2 family, member A3 UGT2A3 79799 ENSG00000135220 Ugt2a3 (MGI:1919344)
chr4 69051263 69112986 4q13 4q13.2 600068 UGT2B7, UGT2B9 UDP-glucuronyltransferase, family 2, beta-7 UGT2B7 7364 ENSG00000171234 Ugt2b36,Ugt2b35 (MGI:3576103,MGI:3576100)
chr4 69200189 69224979 4q13.2 4q13.2 603064 UGT2B11 Uridine diphosphate glycosyltransferase 2 family, member B11 UGT2B11 10720 ENSG00000213759
chr4 69280428 69295049 4q13.2 4q13.2 606497 UGT2B28 Uridine diphosphate glycosyltransferase 2 family, member B28 UGT2B28 54490 ENSG00000135226 Ugt2b38,Ugt2b37,Ugt2b5 (MGI:2148239,MGI:2140794,MGI:98900)
chr4 69480164 69526013 4q13 4q13.3 600067 UGT2B4, UGT2B11 UDP-glucuronyltransferase, family 2, beta-4 UGT2B4 7363 ENSG00000156096 cluster in order B7--B4--B15 in 195kb
chr4 69588416 69653248 4q13 4q13.3 604716 UGT2A1 Uridine diphosphate glycosyltransferase 2 family, member A1 UGT2A1 10941 ENSG00000173610 Ugt2a1 (MGI:2149905)
chr4 69726847 69760711 4q13.3 4q13.3 608436 SULT1B1, ST1B2 Sulfotransferase family 1B, member 1 SULT1B1 27284 ENSG00000173597 Sult1b1 (MGI:2136282)
chr4 69841211 69860151 4q13.1 4q13.3 600043 STE, EST Sulfotransferase, estrogen-preferring SULT1E1 6783 ENSG00000109193 Sult1e1 (MGI:98431)
chr4 69931061 69946569 4q21.1 4q13.3 115450 CSN1 Casein, alpha CSN1S1 1446 ENSG00000126545
chr4 69955255 69965761 4q21.1 4q13.3 115460 CSN2 Casein, beta CSN2 1447 ENSG00000135222 Csn2 (MGI:88541)
chr4 69995930 70002455 4q11-q13 4q13.3 184470 STATH Statherin STATH 6779 ENSG00000126549
chr4 70028412 70036537 4q13 4q13.3 142702 HTN3, HTN2, HIS2 Histatin-3 HTN3 3347 ENSG00000205649
chr4 70050414 70058847 4q13 4q13.3 142701 HTN1 Histatin-1 HTN1 3346 ENSG00000126550 3 genes in a 15kb segment
chr4 70195727 70204575 4q13.3 4q13.3 614843 ODAM, APIN Odontogenic ameloblast-associated protein ODAM 54959 ENSG00000109205 Odam (MGI:1916842)
chr4 70238369 70251431 4q13-q21 4q13.3 601695 CSN3, CNS10, CSNK Casein, kappa CSN3 1448 ENSG00000171209 Csn3 (MGI:107461)
chr4 70383077 70390243 4q13.3 4q13.3 611593 SMR3B, SMR1B, PRL3, PBII Submaxillary gland androgen-regulated protein 3, mouse, homolog of, B SMR3B 10879 ENSG00000171201
chr4 70397881 70410196 4q13.3 4q13.3 608936 PROL1, PRL1, BPLP Proline-rich lacrimal protein 1 OPRPN 58503 ENSG00000171199
chr4 70430491 70482996 4q13-q21 4q13.3 158375 MUC7 Mucin 7, salivary MUC7 4589 ENSG00000171195 {Asthma, protection against}, 600807 (3), Autosomal dominant
chr4 70518571 70532742 4q13.3 4q13.3 610912 AMTN, AI3B Amelotin AMTN 401138 ENSG00000187689 mutation identified in 1 AI3B family ?Amelogenesis imperfecta, type IIIB, 617607 (3), Autosomal dominant Amtn (MGI:1918671)
chr4 70592257 70607287 4q21 4q13.3 601259 AMBN, AI1F Ameloblastin AMBN 258 ENSG00000178522 mutation identified in 1 AI1F family Amelogenesis imperfecta, type IF, 616270 (3), Autosomal recessive Ambn (MGI:104655)
chr4 70627470 70646818 4q21 4q13.3 606585 ENAM, AIH2, AI1C Enamelin ENAM 10117 ENSG00000132464 Amelogenesis imperfecta, type IB, 104500 (3), Autosomal dominant; Amelogenesis imperfecta, type IC, 204650 (3), Autosomal recessive Enam (MGI:1333772)
chr4 70655540 70666630 4q21 4q13.3 147790 IGJ Immunoglobulin J polypeptide, linker protein for JCHAIN 3512 ENSG00000132465 Jchain (MGI:96493)
chr4 70688478 70690550 4q21 4q13.3 611614 UTP3, CRL1, CRLZ1 UTP3, S. crevisiae, homolog of UTP3 57050 ENSG00000132467 Utp3 (MGI:1919230)
chr4 70704203 70808621 4q13.3 4q13.3 611194 RUFY3, SINGAR1, RIPX FUN and FYVE domains-containing protein 3 RUFY3 22902 ENSG00000018189 Rufy3 (MGI:106484)
chr4 70815781 70843273 4q13 4q13.3 604851 GRSF1 G-rich RNA sequence-binding factor 1 GRSF1 2926 ENSG00000132463 Grsf1 (MGI:106479)
chr4 70993547 71030913 4q13.3-q21.1 4q13.3 125450 DCK Deoxycytidine kinase DCK 1633 ENSG00000156136 Dck (MGI:102726)
chr4 71062645 71572086 4q21 4q13.3 603345 SLC4A4, NBC1, KNBC Solute carrier family 4, sodium bicarbonate cotransporter, member 4 SLC4A4 8671 ENSG00000080493 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3), Autosomal recessive Slc4a4 (MGI:1927555)
chr4 71741692 71805519 4q12 4q13.3 139200 GC, DBP Group-specific component (vitamin D-binding protein) GC 2638 ENSG00000145321 4q13-q21.1 by in situ hybridization Gc (MGI:95669)
chr4 72031803 72148200 4q13.2-q13.3 4q13.3 607449 GPR74, NPFF2, NPGPR G protein-coupled receptor 74 NPFFR2 10886 ENSG00000056291 Npffr2 (MGI:1860130)
chr4 72280968 72568798 4q21 4q13.3 605011 ADAMTS3 A Disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 3 ADAMTS3 9508 ENSG00000156140 Adamts3 (MGI:3045353)
chr4 73054695 73069776 4q21.1 4q13.3 610428 COX18 Cytochrome c oxidase assembly protein COX18 COX18 285521 ENSG00000163626 Cox18 (MGI:2448532)
chr4 73073965 73259765 4q13.3 4q13.3 615929 ANKRD17, GTAR Ankyrin repeat domain-containing protein 17 ANKRD17 26057 ENSG00000132466 Ankrd17 (MGI:1932101)
chr4 73404238 73421483 4q11-q13 4q13.3 103600 ALB, ANALBA, FDAH Albumin ALB 213 ENSG00000163631 linked to GC Analbuminemia, 616000 (3); [Dysalbuminemic hyperthyroxinemia], 615999 (3) Alb (MGI:87991)
chr4 73436218 73455784 4q11-q13 4q13.3 104150 AFP, HPAFP, AFPD Alpha-fetoprotein AFP 174 ENSG00000081051 order: 5'-ALB-3'--5'-AFP-3' Alpha-fetoprotein deficiency, 615969 (3), Autosomal recessive; [Hereditary persistence of alpha-fetoprotein], 615970 (3), Autosomal dominant Afp (MGI:87951)
chr4 73481744 73504000 4q11-q13 4q13.3 104145 AFM, ALBA, ALB2 Afamin AFM 173 ENSG00000079557 10kb 3' of AFP Afm (MGI:2429409)
chr4 73571549 73620630 4q13.3 4q13.3 612620 RASSF6 Ras association domain family, member 6 RASSF6 166824 ENSG00000169435 Rassf6 (MGI:1920496)
chr4 73740505 73743715 4q12-q13 4q13.3 146930 IL8 Interleukin-8 CXCL8 3576 ENSG00000169429
chr4 73836555 73838759 4q12-q13 4q13.3 138965 CXCL6, SCYB6, GCP2 Chemokine, C-X-C motif, ligand 6 (granulocyte chemotactic protein-2) CXCL6 6372 ENSG00000124875 Cxcl5 (MGI:1096868)
chr4 73848735 73849252 4q12-q13 4q13.3 188035 PPBPL1, TGB2 Pro-platelet basic protein-like 1 (thromboglobulin, beta-2) PPBPP1 728045 in cluster with PPBP, PF4, and PF4V1
chr4 73853295 73854483 4q12-q13 4q13.3 173461 PF4V1 Platelet factor 4, variant 1 (PF4-like) PF4V1 5197 ENSG00000109272 same region as PF4 and IP10
chr4 73869391 73871301 4q12-q13 4q13.3 155730 CXCL1, GRO1, MGSA Chemokine, C-X-C, ligand 1 (GRO1 oncogene; melanoma growth stimulating activity, alpha) CXCL1 2919 ENSG00000163739 apparently cluster of 3 GRO genes
chr4 73980824 73982123 4q12-q13 4q13.3 173460 PF4 Platelet factor 4 PF4 5196 ENSG00000163737 6kb from PF4V1 Pf4 (MGI:1888711)
chr4 73986438 73988189 4q12-q13 4q13.3 121010 PPBP, CXCL7, SCYB7, CTAP3, TGB Pro-platelet basic protein PPBP 5473 ENSG00000163736 less than 7kb from PF4
chr4 73995641 73998728 4q12-q13 4q13.3 600324 CXCL5, SCYB5, ENA78 Chemokine, C-X-C motif, ligand 5 (epithelial-derived neutrophil-activating peptide 78) CXCL5 6374 ENSG00000163735
chr4 74036588 74038772 4q12-q13 4q13.3 139111 CXCL3, GRO3, MIP2B Chemokine, C-X-C motif, ligand 3 (GRO3 oncogene) CXCL3 2921 ENSG00000163734 Cxcl2 (MGI:1340094)
chr4 74054037 74055398 4q13.3 4q13.3 611591 PPBPP2, PPBPL2 Pro-platelet basic protein pseudogene 2 PPBPP2 10895
chr4 74097034 74099279 4q12-q13 4q13.3 139110 CXCL2, GRO2, MIP2A Chemokine, C-X-C motif, ligand 2 (GRO2 oncogene) CXCL2 2920 ENSG00000081041 Cxcl1 (MGI:108068)
chr4 74123272 74303098 4q13.3 4q13.3 614047 MTHFD2L Methylenetetrahydrofolate dehydrogenase 2-like, NADP(+)-dependent MTHFD2L 441024 ENSG00000163738 Mthfd2l (MGI:1915871)
chr4 74365142 74388759 4q13.3 4q13.3 602061 EREG Epiregulin EREG 2069 ENSG00000124882 Ereg (MGI:107508)
chr4 74445097 74455008 4q13-q21 4q13.3 104640 AREG Amphiregulin AREG 374 ENSG00000109321 Areg (MGI:88068)
chr4 74744758 74794717 4q13-q21 4q13.3 600345 BTC Betacellulin BTC 685 ENSG00000174808 tightly linked to Areg in mouse Btc (MGI:99439)
chr4 74933074 75050114 4q13.3 4q13.3 617688 PARM1, CIPAR1 Prostate androgen-regulated mucin-like protein 1 PARM1 25849 ENSG00000169116 Parm1 (MGI:2443349)
chr4 75300000 87100000 4q21 613509 DEL4q21, C4DELq21 Chromosome 4q21 deletion syndrome contiguous gene deletion if at least 30 genes Chromosome 4q21 deletion syndrome, 613509 (4), Isolated cases
chr4 75300000 113200000 4q21-q25 134720 FECB Fecundity gene, Boorla, of sheep, homolog of 7892 sheep chr.6
chr4 75300000 154600000 4q21-q31 608371 OFC4 Orofacial cleft 4 474387 Orofacial cleft 4, 608371 (2)
chr4 75300000 100100000 4q21-q23 609566 PFM3 Parietal foramina 3 PFM3 619475 maximum lod between D4S2986 and D4S421 Parietal foramina 3, 609566 (2), Autosomal dominant
chr4 75479036 75515056 4q21.1 4q21.1 607680 RCHY1, ZNF363, PIRH2, ARNIP Ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase RCHY1 25898 ENSG00000163743 Rchy1 (MGI:1915348)
chr4 75513943 75547333 4q21.1 4q21.1 612535 THAP6 THAP domain-containing protein 6 THAP6 152815 ENSG00000174796
chr4 75554996 75565892 4q21.1 4q21.1 614829 ODAPH, C4orf26 Odontogenesis-associated phosphoprotein ODAPH 152816 ENSG00000174792 Amelogenesis imperfecta, type IIA4, 614832 (3), Autosomal recessive Odaph (MGI:2685891)
chr4 75576493 75630539 4q21.1 4q21.1 603442 CDKL2, KKIAMRE, P56 Cyclin-dependent kinase-like 2 CDKL2 8999 ENSG00000138769 Cdkl2 (MGI:1858227)
chr4 75724521 75814288 4q21.1 4q21.1 603344 USO1, TAP, p115 USO1 vesicle docking protein, S. cerevisiae, homolog of USO1 8615 ENSG00000138768 Uso1 (MGI:1929095)
chr4 75859871 75902527 4q21.1 4q21.1 602256 PPEF2 Protein phosphatase, EF hand calcium-binding domain-2 PPEF2 5470 ENSG00000156194 Ppef2 (MGI:1342304)
chr4 75910654 75941012 4q21.1 4q21.1 607469 NAAA, ASAHL N-acylethanolamine acid amidase NAAA 27163 ENSG00000138744 Naaa (MGI:1914361)
chr4 76001341 76007522 4q21 4q21.1 601704 CXCL9, MIG, SCYB9 Chemokine, C-X-C motif, ligand 9 CXCL9 4283 ENSG00000138755 close to INP10
chr4 76011167 76112801 4q21.1 4q21.1 603086 ART3 ADP-ribosyltransferase 3 ART3 419 ENSG00000156219 Art3 (MGI:1202729)
chr4 76021115 76023535 4q21 4q21.1 147310 CXCL10, INP10 Chemokine, C-X-C motif, ligand 10 (interferon-inducible cytokine IP-10) CXCL10 3627 ENSG00000169245 ?involved in monocytic leukemia with t(4;11)(q21;q23) Cxcl10 (MGI:1352450)
chr4 76033681 76036196 4q21.2 4q21.1 604852 CXCL11, SCYB11, IP9, SCYB9B Chemokine, C-X-C motif, ligand 11 CXCL11 6373 ENSG00000169248
chr4 76114658 76148514 4q21.1 4q21.1 607607 NUP54 Nucleoporin, 54kD NUP54 53371 ENSG00000138750 Nup54 (MGI:1920460)
chr4 76158736 76213898 4q13-q21 4q21.1 602257 SCARB2, CD36L2, LIMPII, AMRF, EPM4 Scavenger receptor class B, member 2 SCARB2 950 ENSG00000138760 Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3), Autosomal recessive Scarb2 (MGI:1196458)
chr4 76306025 76311129 4q25-q34 4q21.1 607406 GENEX3414 Genethonin 1 STBD1 8987 ENSG00000118804 Stbd1 (MGI:1261768)
chr4 76435099 76783252 4q21.1 4q21.1 604570 SHROOM3, SHRM, KIAA1481 Shroom family member 3 SHROOM3 57619 ENSG00000138771 Shroom3 (MGI:1351655)
chr4 76949713 77040153 4q21.1 4q21.1 612887 SEPT11 Septin 11 SEPT11 55752 ENSG00000138758 Sept11 (MGI:1277214)
chr4 77157203 77170059 4q21.1 4q21.1 603203 CCNG2 Cyclin G2 CCNG2 901 ENSG00000138764 Ccng2 (MGI:1095734)
chr4 77511752 77611833 4q21 4q21.1 605149 CXCL13, SCYB13, BCA1, BLC Chemokine, C-X-C motif, ligand 13 CXCL13 10563 ENSG00000156234 Cxcl13 (MGI:1888499)
chr4 77862650 77952789 4q21.1 4q21.1 611821 MRPL1 Mitochondrial ribosomal protein L1 MRPL1 65008 ENSG00000169288 Mrpl1 (MGI:2137202)
chr4 78056967 78544268 4q21 4q21.21 607830 FRAS1, FRASRS1 FRAS1 gene FRAS1 80144 ENSG00000138759 Fraser syndrome 1, 219000 (3), Autosomal recessive Fras1 (MGI:2385368)
chr4 78551587 78610450 4q21 4q21.21 106490 ANXA3, ANX3 Annexin A3 (lipocortin III) ANXA3 306 ENSG00000138772 Anxa3 (MGI:1201378)
chr4 78776377 78916364 4q21.21 4q21.21 617648 BMP2K, BIKE BMP2-inducible kinase BMP2K 55589 ENSG00000138756 Bmp2k (MGI:2155456)
chr4 78887224 78939427 4q21.21 4q21.21 614577 PAQR3, RKTG Progestin and ADIPOQ receptor family, member 3 PAQR3 152559 ENSG00000163291 Paqr3 (MGI:2679683)
chr4 79827470 79863246 4q21.1 4q21.21 609717 PCAT4, GDEP Prostate cancer-associated transcript 4 PCAT4 118425
chr4 79901616 80073471 4q21 4q21.21 608041 ANTXR2, CMG2, HFS Anthrax toxin receptor 2 ANTXR2 118429 ENSG00000163297 Hyaline fibromatosis syndrome, 228600 (3), Autosomal recessive Antxr2 (MGI:1919164)
chr4 80183417 80204328 4q21.21 4q21.21 616639 PRDM8, EPM10 PR domain-containing protein 8 PRDM8 56978 ENSG00000152784 mutation identified in 1 EPM10 family ?Epilepsy, progressive myoclonic, 10, 616640 (3), Autosomal recessive Prdm8 (MGI:1924880)
chr4 80266587 80291016 4q21 4q21.21 165190 FGF5, TCMGLY Fibroblast growth factor-5 FGF5 2250 ENSG00000138675 Trichomegaly, 190330 (3), Autosomal recessive Fgf5 (MGI:95519)
chr4 81030777 81057624 4p14-q21 4q21.21 112263 BMP3 Bone morphogenetic protein-3 BMP3 651 ENSG00000152785 Bmp3 (MGI:88179)
chr4 81086873 81217836 4q13.1-q21.1 4q21.21 601591 PRKG2, PRKGR2 Protein kinase, cGMP-dependent, type II PRKG2 5593 ENSG00000138669 Prkg2 (MGI:108173)
chr4 81426392 81471927 4q12-q21 4q21.21 614532 RASGEF1B, GPIG4 RASGEF domain family, member 1B RASGEF1B 153020 ENSG00000138670 Rasgef1b (MGI:2443755)
chr4 82353313 82373995 4q21.1-q21.2 4q21.22 601324 HNRPD, AUF1, AUF1A Heterogeneous nuclear ribonucleoprotein D HNRNPD 3184 ENSG00000138668 Hnrnpd (MGI:101947)
chr4 82422563 82430224 4q21.33 4q21.22 607137 HNRNPDL, HNRPDL, JKTBP, LGMD1G Heterogeneous nuclear ribonucleoprotein D-like protein HNRNPDL 9987 ENSG00000152795 Muscular dystrophy, limb-girdle, type 1G, 609115 (3), Autosomal dominant Hnrnpdl (MGI:1355299)
chr4 82483169 82562559 4q21.22 4q21.22 617292 TMEM150C, TTN3 Transmembrane protein 150C TMEM150C 441027 ENSG00000249242 Tmem150c (MGI:3041258)
chr4 82629536 82798856 4q21.1 4q21.22 608370 SCD4, ACOD4 Stearoyl-CoA desaturase 4 SCD5 79966 ENSG00000145284
chr4 82818508 82900570 4q21.22 4q21.22 610257 SEC31A, SEC31L1, KIAA0905 Sec31, yeast, homolog of, A SEC31A 22872 ENSG00000138674 Sec31a (MGI:1916412)
chr4 82900649 82920282 4q21.22 4q21.22 612537 THAP9 THAP domain-containing protein 9 THAP9 79725 ENSG00000168152
chr4 82924602 83012950 4q21.22 4q21.22 613367 LIN54 Lin54, C. elegans, homolog of LIN54 132660 ENSG00000189308 Lin54 (MGI:2140902)
chr4 83035085 83075817 4q21.22 4q21.22 616008 COPS4, CSN4 COP9 signalosome, subunit 4 COPS4 51138 ENSG00000138663 Cops4 (MGI:1349414)
chr4 83090047 83114757 4q21 4q21.22 607515 PLAC8 Placenta-specific gene 8 PLAC8 51316 ENSG00000145287 Plac8 (MGI:2445289)
chr4 83138563 83285133 4q21-q22 4q21.22-q21.23 609825 COQ2, COQ10D1, MSA1 CoQ2, S. cerevisiae, homolog of (parahydroxybenzoate-polyprenyltransferase, mitochondrial) COQ2 27235 ENSG00000173085 Coenzyme Q10 deficiency, primary, 1, 607426 (3), Autosomal recessive; {Multiple system atrophy, susceptibility to}, 146500 (3), Autosomal recessive, Autosomal dominant Coq2 (MGI:1919133)
chr4 83292460 83335152 4q21.3 4q21.23 604724 HPSE, HSE1, HPA Heparanase HPSE 10855 ENSG00000173083 Hpse (MGI:1343124)
chr4 83407342 83456045 4q21.23 4q21.23 606769 HELQ, HEL308 Helicase, POLQ-like HELQ 113510 ENSG00000163312 Helq (MGI:2176740)
chr4 83455931 83461722 4q21.23 4q21.23 611983 MRPS18C, MRPS18-1 Mitochondrial ribosomal protein S18C MRPS18C 51023 ENSG00000163319 6 pseudogenes Mrps18c (MGI:1915985)
chr4 83460938 83485177 4q21.2 4q21.23 611143 FAM175A, CCDC98, ABRAXAS, ABRA1 Family with sequence similarity 175, member A ABRAXAS1 84142 ENSG00000163322 Abraxas1 (MGI:1917931)
chr4 83535633 83605874 4q21.23 4q21.23 610958 AGPAT9, GPAT3, MAG1 1-acylglycerol-3-phosphate O-acyltransferase 9 GPAT3 84803 ENSG00000138678 Gpat3 (MGI:3603816)
chr4 84493282 84498233 4q21.2-q22 4q21.23 602563 NKX6-1, NKX6A NK6, Drosophila, homolog of, 1 NKX6-1 4825 ENSG00000163623 Nkx6-1 (MGI:1206039)
chr4 84582903 84651339 4q21 4q21.23 603548 CDS1 CDP-diacylglycerol synthase 1 CDS1 1040 ENSG00000163624 Cds1 (MGI:1921846)
chr4 84669536 84966390 4q21 4q21.23 617485 WDFY3, ALFY, BCHS, MCPH18 WD repeat- and FYVE domain-containing protein 3 WDFY3 23001 ENSG00000163625 mutation identified in 1 MCPH18 family ?Microcephaly 18, primary, autosomal dominant, 617520 (3), Autosomal dominant Wdfy3 (MGI:1096875)
chr4 85475130 86002669 4q21 4q21.2-q21.3 610586 ARHGAP24, RCGAP72, FILGAP RHO GTPase-activating protein 24 ARHGAP24 83478 ENSG00000138639 Arhgap24 (MGI:1922647)
chr4 86012295 86594624 4q21.3 4q21.3 602897 MAPK10, PRKM10, JNK3 Mitogen-activated protein kinase 10 MAPK10 5602 ENSG00000109339 Mapk10 (MGI:1346863)
chr4 86594306 86815175 4q21.3 4q21.3 600267 PTPN13 Protein tyrosine phosphatase, nonreceptor-type, 13 (APO-1/CD95 (Fas)-associated phosphatase) PTPN13 5783 ENSG00000163629 633bp upstream of JNK3 Ptpn13 (MGI:103293)
chr4 86823467 86849262 4q21.3 4q21.3 613366 SLC10A6, SOAT Solute carrier family 10 (sodium/bile acid cotransporter family), member 6 SLC10A6 345274 ENSG00000145283 Slc10a6 (MGI:1923000)
chr4 86934605 87141053 4q21 4q21.3-q22.1 159557 AFF1, MLLT2, AF4 AF4/FMR2 family, member 1 AFF1 4299 ENSG00000172493 fuses with ALL1 Aff1 (MGI:1100819)
chr4 87100000 92800000 4q22.1 613518 ATOD8 Dermatitis, atopic, 8 105463125 {Dermatitis, atopic, susceptibility to, 8}, 613518 (2)
chr4 87100000 97900000 4q22 612343 MUSQTL1 Musical aptitude quantitative trait locus 1 100192307 near D4S423 and D4S2460 [Musical aptitude QTL 1], 612343 (2)
chr4 87100000 122800000 4q22-q27 609994 MYP11 Myopia 11 MYP11 594832 max lod at D4S1564 Myopia 11, 609994 (2)
chr4 87160102 87220607 4q22.1 4q22.1 611967 KLHL8, KIAA1378 Kelch-like 8 KLHL8 57563 ENSG00000145332 Klhl8 (MGI:2179430)
chr4 87303788 87322905 4q22.1 4q22.1 612127 HSD17B13, SCDR9 17-beta-hydroxysteroid dehydrogenase XIII HSD17B13 345275 ENSG00000170509 Hsd17b13 (MGI:2140804)
chr4 87336521 87391302 4q21 4q22.1 612831 HSD17B11, RETSDR2, PAN1B 17-beta-hydroxysteroid dehydrogenase XI HSD17B11 51170 ENSG00000198189 Hsd17b11 (MGI:2149821)
chr4 87608528 87616872 4q21.3 4q22.1 125485 DSPP, DPP, DGI1, DFNA39, DTDP2 Dentin sialophosphoprotein DSPP 1834 ENSG00000152591 Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3), Autosomal dominant; Dentin dysplasia, type II, 125420 (3), Autosomal dominant; Dentinogenesis imperfecta, Shields type II, 125490 (3), Autosomal dominant; Dentinogenesis imperfecta, Shields type III, 125500 (3), Autosomal dominant
chr4 87650301 87664360 4q21 4q22.1 600980 DMP1, ARHR, ARHP Dentin matrix acidic phosphoprotein DMP1 1758 ENSG00000152592 Hypophosphatemic rickets, AR, 241520 (3), Autosomal recessive Dmp1 (MGI:94910)
chr4 87799549 87812448 4q21-q25 4q22.1 147563 IBSP Integrin-binding sialoprotein (bone sialoprotein II) IBSP 3381 ENSG00000029559 Ibsp (MGI:96389)
chr4 87821397 87846816 4q21.1 4q22.1 605912 MEPE Matrix, extracellular, phosphoglycoprotein MEPE 56955 ENSG00000152595 Mepe (MGI:2137384)
chr4 87975649 87983410 4q21-q25 4q22.1 166490 SPP1, OPN Secreted phosphoprotein-1 (osteopontin, bone sialoprotein) SPP1 6696 ENSG00000118785 Spp1 (MGI:98389)
chr4 88007646 88077778 4q21-q23 4q22.1 173910 PKD2 Polycystin-2 PKD2 5311 ENSG00000118762 Polycystic kidney disease 2, 613095 (3), Autosomal dominant Pkd2 (MGI:1099818)
chr4 88090263 88231625 4q22 4q22.1 603756 ABCG2, BCRP, ABCP, UAQTL1, GOUT1 ATP-binding cassette, subfamily G, member 2 ABCG2 9429 ENSG00000118777 [Junior blood group system], 614490 (3); [Uric acid concentration, serum, QTL1], 138900 (3), ?Autosomal dominant Abcg2 (MGI:1347061)
chr4 88257608 88284830 4q22.1 4q22.1 611065 PPM1K, PP2CM, PTMP, MSUDMV Protein phosphatase, PP2C domain-containing, 1K PPM1K 152926 ENSG00000163644 mutation identified in 1 MSUDMV family ?Maple syrup urine disease, mild variant, 615135 (3) Ppm1k (MGI:2442111)
chr4 88456603 88506169 4q22.2-q22.3 4q22.1 608242 HERC5, CEB1 HECT domain and RCC1-like domain 5 HERC5 51191 ENSG00000138646
chr4 88520977 88523800 4q22.1 4q22.1 610662 PIGY, HPMRS6 Phosphatidylinositol glycan, class Y PIGY 84992 ENSG00000255072 Hyperphosphatasia with mental retardation syndrome 6, 616809 (3), Autosomal recessive Pigyl (MGI:1913518)
chr4 88592422 88709302 4q22.1 4q22.1 605200 HERC3 HECT domain and RCC1-like domain 3 HERC3 8916 ENSG00000138641 Herc3 (MGI:1921248)
chr4 88695912 88698234 4q21-q22 4q22.1 612203 NAP1L5, DRLM Nucleosome assembly protein 1-like 5 NAP1L5 266812 ENSG00000177432 Nap1l5 (MGI:1923555)
chr4 88709788 88730102 4q22.1 4q22.1 613300 FAM13AOS, FAM13A1OS FAM13A opposite strand FAM13A-AS1 285512 overlaps with FAM13A
chr4 88725953 89111397 4q22.1 4q22.1 613299 FAM13A, FAM13A1, KIAA0914 Family with sequence similarity 13, member A FAM13A 10144 ENSG00000138640 overlaps with FAM13AOS
chr4 89112816 89114900 4q22.1 4q22.1 612973 TIGD2 TIGGER transposable element-derived gene 2 TIGD2 166815 ENSG00000180346 Tigd2 (MGI:1915390)
chr4 89237665 89308009 4q22.1 4q22.1 611241 GPRIN3, GRIN3 G protein-regulated inducer of neurite outgrowth 3 GPRIN3 285513 ENSG00000185477 Gprin3 (MGI:1924785)
chr4 89724098 89838323 4q21 4q22.1 163890 SNCA, NACP, PARK1, PARK4 Synuclein, alpha (non A4 component of amyloid precursor) SNCA 6622 ENSG00000145335 Dementia, Lewy body, 127750 (3), Autosomal dominant; Parkinson disease 1, 168601 (3), Autosomal dominant; Parkinson disease 4, 605543 (3), Autosomal dominant Snca (MGI:1277151)
chr4 89879538 89954628 4q22.1 4q22.1 601456 MMRN1, ECM Multimerin 1 MMRN1 22915 ENSG00000138722 Mmrn1 (MGI:1918195)
chr4 92303621 93810414 4q22 4q22.1-q22.2 602368 GRID2, SCAR18 Glutamate receptor, ionotropic, delta-2 GRID2 2895 ENSG00000152208 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3), Autosomal recessive Grid2 (MGI:95813)
chr4 93828926 93829990 4q22 4q22.2 601461 ATOH1, ATH1 Atonal, Drosophila, homolog of, 1 ATOH1 474 ENSG00000172238 Atoh1 (MGI:104654)
chr4 94207607 94291291 4q22-q23 4q22.3 612761 SMARCAD1, KIAA1122, ETL1, HEL1, ADERM, BASNS SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily A, DEAD/H box-containing, 1 SMARCAD1 56916 ENSG00000163104 Adermatoglyphia, 136000 (3), Autosomal dominant; Basan syndrome, 129200 (3), Autosomal dominant Smarcad1 (MGI:95453)
chr4 94298555 94342875 4q21-q22 4q22.3 602598 HPGDS, PGDS Prostaglandin D2 synthase, hematopoietic HPGDS 27306 ENSG00000163106 Hpgds (MGI:1859384)
chr4 94451856 94668226 4q22 4q22.3 605904 ENH Enigma-like LIM domain protein PDLIM5 10611 ENSG00000163110 Pdlim5 (MGI:1927489)
chr4 94757976 95158452 4q23-q24 4q22.3 603248 BMPR1B, ALK6, AMDD, BDA2, BDA1D Bone morphogenetic protein receptor, type IB BMPR1B 658 ENSG00000138696 Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive; Brachydactyly, type A1, D, 616849 (3), Autosomal dominant; Brachydactyly, type A2, 112600 (3), Autosomal dominant Bmpr1b (MGI:107191)
chr4 95162503 95549209 4q21-q23 4q22.3 603610 UNC5C, UNC5H3 UNC5, C. elegans, homolog of, C UNC5C 8633 ENSG00000182168 Unc5c (MGI:1095412)
chr4 95840087 95841473 4q22-q23 4q22.3 179061 PDHA2 Pyruvate dehydrogenase, E1-alpha polypeptide, testis specific form PDHA2 5161 ENSG00000163114
chr4 97900000 100100000 4q23 617478 DNAJB14 DNAJ/HSP40 homolog, subfamily B, member 14
chr4 97900000 100100000 4q23 181600 TYS, HRZ Sclerotylosis TYS 7303 Huriez syndrome, 181600 (2), Autosomal dominant
chr4 98261375 98443860 4q21-q25 4q23 179502 RAP1GDS1 RAP1, GTP-GDP dissociation stimulator 1 RAP1GDS1 5910 ENSG00000138698 fusion partner with NUP98 in ALL Lymphocytic leukemia, acute T-cell (3) Rap1gds1 (MGI:2385189)
chr4 98470366 98658660 4q23 4q23 613136 TSPAN5, NET4 Tetraspanin 5 TSPAN5 10098 ENSG00000168785 Tspan5 (MGI:1928096)
chr4 98871683 98930636 4q21-q25 4q23 133440 EIF4E, EIF4EL1, AUTS19 Eukaryotic translation initiation factor 4E EIF4E 1977 ENSG00000151247 pseudogene on 20 {Autism, susceptibility to, 19}, 615091 (3) Eif4e (MGI:95305)
chr4 98995636 99063108 4q23 4q23 610151 METAP1, KIAA0094 Methionyl aminopeptidase 1 METAP1 23173 ENSG00000164024 Metap1 (MGI:1922874)
chr4 99070977 99088787 4q21-q25 4q23 103710 ADH5, FDH Alcohol dehydrogenase (class III), chi polypeptide ADH5 128 ENSG00000197894 Adh5 (MGI:87929)
chr4 99123656 99144297 4q22 4q23 103740 ADH4 Alcohol dehydrogenase (class II), pi polypeptide ADH4 127 ENSG00000198099 Adh4 (MGI:1349472)
chr4 99202637 99219245 4q23-q24 4q23 103735 ADH6 Alcohol dehydrogenase 6 (aldehyde reductase) ADH6 130 ENSG00000172955
chr4 99276365 99291027 4q22 4q23 103700 ADH1A, ADH1 Alcohol dehydrogenase IA (class I), alpha polypeptide ADH1A 124 ENSG00000187758
chr4 99306386 99321441 4q22 4q23 103720 ADH1B, ADH2 Alcohol dehydrogenase IB (class I), beta polypeptide ADH1B 125 ENSG00000196616 {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} (3); {Alcohol dependence, protection against}, 103780 (3), Multifactorial
chr4 99336491 99353044 4q22 4q23 103730 ADH1C, ADH3 Alcohol dehydrogenase IC (class I), gamma polypeptide ADH1C 126 ENSG00000248144 {Alcohol dependence, protection against}, 103780 (3), Multifactorial; {Parkinson disease, susceptibility to}, 168600 (3), Isolated cases, Multifactorial Adh1 (MGI:87921)
chr4 99412260 99435509 4q23-q24 4q23 600086 ADH7 Alcohol dehydrogenase-7 ADH7 131 ENSG00000196344 Adh7 (MGI:87926)
chr4 99546706 99564056 4q23 4q23 616013 TRMT10A, RG9MTD2, MSSGM1 tRNA methyltransferase 10, S. cerevisiae, homolog of, A TRMT10A 93587 ENSG00000145331 Microcephaly, short stature, and impaired glucose metabolism 1, 616033 (3), Autosomal recessive Trmt10a (MGI:1920421)
chr4 99564077 99623996 4q22-q24 4q23 157147 MTP Microsomal triglyceride transfer protein, 88kD MTTP 4547 ENSG00000138823 Abetalipoproteinemia, 200100 (3), Autosomal recessive; {Metabolic syndrome, protection against}, 605552 (3), Autosomal dominant Mttp (MGI:106926)
chr4 99636528 99657805 4q23 4q23 617881 C4orf54, LOC285556, FOPV Chromosome 4 open reading frame 54 C4orf54 285556 ENSG00000248713 1110002E22Rik (MGI:1915066)
chr4 99816823 99872289 4q25-q27 4q23 605768 DAPP1, BAM32 Dual adaptor of phosphotyrosine and 3-phosphoinositides 1 DAPP1 27071 ENSG00000070190 Dapp1 (MGI:1347063)
chr4 99878337 99894545 4q23 4q23 603296 LAMTOR3, MP1, MAPBP Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 3 LAMTOR3 8649 ENSG00000109270 Lamtor3 (MGI:1929467)
chr4 99948086 99950354 4q24 4q23 142763 H2AZ H2AZ histone H2AFZ 3015 ENSG00000164032 H2afz (MGI:1888388)
chr4 100100000 138500000 4q24-q28 613340 HWE2 Epilepsy, hot water, 2 100415904 between D4S1572 and D4S2277 Epilepsy, hot water, 2, 613340 (2)
chr4 100100000 106700000 4q24 157300 MGR1, MA Migraine with or without aura, susceptibility to, 1 192115 {Migraine with or without aura, susceptibility to, 1}, 157300 (2), Autosomal dominant
chr4 100100000 106700000 4q24 615312 OCA5 Albinism, oculocutaneous, type V OCA5 101926885 max lod at D4S961 Albinism, oculocutaneous, type V, 615312 (2), Autosomal recessive
chr4 100185869 100190497 4q24-q25 4q24 607730 DDIT4L, REDD2 DNA damage-inducible transcript 4-like DDIT4L 115265 ENSG00000145358 Ddit4l (MGI:1920534)
chr4 101023429 101348294 4q24-q25 4q24 114105 PPP3CA, PPP2B, CALNA, CNA1, IECEE1 Protein phosphatase-3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha) PPP3CA 5530 ENSG00000138814 Epileptic encephalopathy, infantile or early childhood, 1, 617711 (3), Autosomal dominant Ppp3ca (MGI:107164)
chr4 101790481 102074811 4q22-q24 4q24 610292 BANK1, FLJ20706, BANK B-cell scaffold protein with ankyrin repeats 1 BANK1 55024 ENSG00000153064 Bank1 (MGI:2442120)
chr4 102251040 102345497 4q22-q24 4q24 608732 SLC39A8, BIGM103, CDG2N Solute carrier family 39 (zinc transporter), member 8 SLC39A8 64116 ENSG00000138821 Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive Slc39a8 (MGI:1914797)
chr4 102501265 102617301 4q23-q24 4q24 164011 NFKB1, CVID12 Nuclear factor of kappa light chain gene enhancer in B-cells 1 (p105) NFKB1 4790 ENSG00000109320 Immunodeficiency, common variable, 12, 616576 (3), Autosomal dominant Nfkb1 (MGI:97312)
chr4 102631485 102760993 4q22-q25 4q24 609489 MANBA, MANB1 Mannosidase, beta A, lysosomal MANBA 4126 ENSG00000109323 linked in mouse to Adl-3 Mannosidosis, beta, 248510 (3), Autosomal recessive Manba (MGI:88175)
chr4 102794382 102868892 4q24 4q24 602963 UBE2D3, UBCH5C Ubiquitin-conjugating enzyme E2D 3 UBE2D3 7323 ENSG00000109332 Ube2d3 (MGI:1913355)
chr4 102868977 102892806 4q22-q24 4q24 611507 CISD2, WFS2, ZCD2, ERIS CDGSH iron sulfur domain protein 2 CISD2 493856 ENSG00000145354 Wolfram syndrome 2, 604928 (3), Autosomal recessive Cisd2 (MGI:1914256)
chr4 102885047 103019738 4q24 4q24 611527 NHEDC1 Na+/H+ exchanger domain-containing protein 1 SLC9B1 150159 ENSG00000164037 Slc9b1 (MGI:1921696)
chr4 103018032 103077370 4q24 4q24 611789 NHEDC2, NHA2 NA+/H+ exchanger domain-containing protein 2 SLC9B2 133308 ENSG00000164038 Slc9b2 (MGI:2140077)
chr4 103105805 103198408 4q24-q25 4q24 117143 CENPE, MCPH13 Centromere autoantigen E, 312kD CENPE 1062 ENSG00000138778 mutation identified in 1 MCPH13 family ?Microcephaly 13, primary, autosomal recessive, 616051 (3), Autosomal recessive Cenpe (MGI:1098230)
chr4 103589467 103719815 4q25 4q24 162332 TACR3, NK3R, HH11 Tachykinin receptor 3 TACR3 6870 ENSG00000169836 Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3), Autosomal recessive Tacr3 (MGI:892968)
chr4 104468305 104494966 4q22-q24 4q24 611645 CXXC4, IDAX CXXC finger protein 4 CXXC4 80319 ENSG00000168772 Cxxc4 (MGI:2442112)
chr4 105145874 105279802 4q24 4q24 612839 TET2, KIAA1546, MDS TET oncogene family, member 2 TET2 54790 ENSG00000168769 Myelodysplastic syndrome, somatic, 614286 (3) Tet2 (MGI:2443298)
chr4 105369076 105474069 4q25 4q24 609988 PPA2, SCFI, SCFAI Pyrophosphatase, inorganic, 2 PPA2 27068 ENSG00000138777 mutation identified in 1 SCFAI family ?Sudden cardiac failure, alcohol-induced, 617223 (3), Autosomal recessive; Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive Ppa2 (MGI:1922026)
chr4 105682626 105708724 4q24 4q24 611355 INTS12, INT12 Integrator complex subunit 12 INTS12 57117 ENSG00000138785 Ints12 (MGI:1919043)
chr4 105708777 105847725 4q24 4q24 615912 GSTCD Glutathione S-transferase C-terminal domain-containing protein GSTCD 79807 ENSG00000138780 Gstcd (MGI:1914803)
chr4 105895439 105971670 4q24 4q24 610306 NPNT, POEM Nephronectin NPNT 255743 ENSG00000168743 Npnt (MGI:2148811)
chr4 106041599 106316703 4q24 4q24 616899 TBCK, IHPRF3 TBC1 domain-containing kinase TBCK 93627 ENSG00000145348 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive Tbck (MGI:2445052)
chr4 106315609 106349224 4q24 4q24 603605 AIMP1, SCYE1, EMAP2, EMAPII, HLD3 ARS-interacting multifunctional protein 1 AIMP1 9255 ENSG00000164022 Leukodystrophy, hypomyelinating, 3, 260600 (3), Autosomal recessive Aimp1 (MGI:102774)
chr4 106700000 113200000 4q25 611494 ATFB5 Atrial fibrillation, familial, 5 100188842 association with rs2200733 and rs10033464 {Atrial fibrillation, familial, 5}, 611494 (2)
chr4 106700000 113200000 4q25 152430 LGV1 Longevity 1, QTL 140802 maximum lod at D4S1564 [Longevity 1], 152430 (2)
chr4 107613665 107720262 4q24 4q25 603262 PAPSS1, ATPSK1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (ATP sulfurylase/APS kinase-1) PAPSS1 9061 ENSG00000138801 Papss1 (MGI:1330587)
chr4 107823644 107915046 4q25 4q25 611574 SGMS2, SMS2 Sphingomyelin synthase 2 SGMS2 166929 ENSG00000164023 Sgms2 (MGI:1921692)
chr4 107931548 107953460 4q25 4q25 610670 CYP2U1, SPG56 Cytochrome P450, family 2, subfamily U, polypeptide 1 CYP2U1 113612 ENSG00000155016 Spastic paraplegia 56, autosomal recessive, 615030 (3), Autosomal recessive Cyp2u1 (MGI:1918769)
chr4 107989713 108035174 4q22-q26 4q25 601609 HADHSC, SCHAD, HHF4 L-3-hydroxyacyl-CoA dehydrogenase, short chain HADH 3033 ENSG00000138796 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3), Autosomal recessive; Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3), Autosomal recessive Hadh (MGI:96009)
chr4 108047544 108168955 4q23-q25 4q25 153245 LEF1 Lymphoid enhancer-binding factor-1 LEF1 51176 ENSG00000138795 Sebaceous tumors, somatic (3) Lef1 (MGI:96770)
chr4 108620557 108630483 4q25 4q25 616862 RPL34 Ribosomal protein L34 RPL34 6164 ENSG00000109475 Rpl34-ps2 (MGI:3648994)
chr4 108742039 108763078 4q25 4q25 614682 AGXT2L1 Alanine-glyoxylate aminotransferase 2-like 1 ETNPPL 64850 ENSG00000164089 Etnppl (MGI:1919010)
chr4 108808724 109302736 4q25 4q25 610004 COL25A1, CLAC, CFEOM5 Collagen, type XXV, alpha-1 polypeptide COL25A1 84570 ENSG00000188517 Fibrosis of extraocular muscles, congenital, 5, 616219 (3), Autosomal recessive Col25a1 (MGI:1924268)
chr4 109433714 109540458 4q25 4q25 607184 SEC24B Sec24-related gene family, member B SEC24B 10427 ENSG00000138802 Sec24b (MGI:2139764)
chr4 109688628 109703472 4q25-q25 4q25 601532 CASP6, MCH2 Caspase 6, apoptosis-related cysteine protease CASP6 839 ENSG00000138794 Casp6 (MGI:1312921)
chr4 109709988 109730085 4q25 4q25 611652 PLA2G12A, GXII, ROSSY Phospholipase A2, Group XIIA PLA2G12A 81579 ENSG00000123739 Pla2g12a (MGI:1913600)
chr4 109731220 109802224 4q25 4q25 217030 CFI, FI, AHUS3, ARMD13 Complement factor I CFI 3426 ENSG00000205403 40kb distal to EGF Complement factor I deficiency, 610984 (3), Autosomal recessive; {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3), Autosomal dominant; {Macular degeneration, age-related, 13, susceptibility to}, 615439 (3), Autosomal dominant Cfi (MGI:105937)
chr4 109815509 109824736 4q25 4q25 606468 NOLA1, GAR1 Nucleolar protein family A, member 1 GAR1 54433 ENSG00000109534
chr4 109827993 109844706 4q 4q25 605224 RRH Rhodopsin homolog, retinal pigment epithelium-derived (peropsin) RRH 10692 ENSG00000180245 Rrh (MGI:1097709)
chr4 109848181 109872314 4q25 4q25 615004 LRIT3, FIGLER4, CSNB1F Leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein 3 LRIT3 345193 ENSG00000183423 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3), Autosomal recessive Lrit3 (MGI:2685267)
chr4 109912882 110013078 4q25 4q25 131530 EGF, URG, HOMG4 Epidermal growth factor (urogastrone) EGF 1950 ENSG00000138798 linked to ADH3; cen-ADH3-EGF-IL2-qter Hypomagnesemia 4, renal, 611718 (3) Egf (MGI:95290)
chr4 110045850 110199198 4q25 4q25 611546 ELOVL6, LCE, FACE Elongation of very long chain fatty acids-like 6 ELOVL6 79071 ENSG00000170522 Elovl6 (MGI:2156528)
chr4 110476072 110563336 4q25 4q25 138297 ENPEP Glutamyl aminopeptidase (aminopeptidase A) ENPEP 2028 ENSG00000138792 Enpep (MGI:106645)
chr4 110595512 110615457 4q25 4q25 617286 PANCR PITX2 adjacent noncoding RNA PANCR 110231149
chr4 110617422 110642122 4q25-q26 4q25 601542 PITX2, IDG2, RIEG1, RGS, IGDS2, ASGD4 Paired-like homeodomain transcription factor-2 PITX2 5308 ENSG00000164093 Anterior segment dysgenesis 4, 137600 (3), Autosomal dominant; Axenfeld-Rieger syndrome, type 1, 180500 (3), Autosomal dominant; Ring dermoid of cornea, 180550 (3), Autosomal dominant Pitx2 (MGI:109340)
chr4 110860581 110860646 4q25 4q25 615520 MIR297 Micro RNA 297 MIR297 100126354
chr4 112231738 112273109 4q25 4q25 610851 C4orf16, GBAR, 2C18 Gamma-1 adaptin brefeldin-A resistance protein AP1AR 55435 ENSG00000138660 Ap1ar (MGI:2384822)
chr4 112275625 112285902 4q25 4q25 609028 TIFA, T2BP TRAF-interacting protein with forkhead-associated domain TIFA 92610 ENSG00000145365 Tifa (MGI:2182965)
chr4 112285994 112442617 4q25 4q25 607347 ALPK1, LAK, KIAA1527 Alpha-kinase 1 ALPK1 80216 ENSG00000073331 Alpk1 (MGI:1918731)
chr4 112513515 112516171 4q25 4q25 606624 NEUROG2, NGN2, ATOH4 Neurogenin 2 NEUROG2 63973 ENSG00000178403 Neurog2 (MGI:109619)
chr4 112636963 112657591 4q25 4q25 612026 LARP7, PIP7S, ALAZS La ribonucleoprotein domain family, member 7 LARP7 51574 ENSG00000174720 Alazami syndrome, 615071 (3), Autosomal recessive Larp7 (MGI:107634)
chr4 112647873 112647940 4q25 4q25 614600 MIR367 Micro RNA 367 MIR367 442912
chr4 112648003 112648070 4q25 4q25 614599 MIR302D Micro RNA 302D MIR302D 442896
chr4 112648182 112648250 4q25 4q25 614596 MIR302A Micro RNA 302A MIR302A 407028
chr4 112648362 112648429 4q25 4q25 614598 MIR302C Micro RNA 302C MIR302C 442895
chr4 112648484 112648556 4q25 4q25 614597 MIR302B Micro RNA 302B MIR302B 442894
chr4 112706017 113383739 4q25-q27 4q25-q26 106410 ANK2, LQT4 Ankyrin-2, nonerythrocytic ANK2 287 ENSG00000145362 Cardiac arrhythmia, ankyrin-B-related, 600919 (3), Autosomal dominant; Long QT syndrome 4, 600919 (3), Autosomal dominant
chr4 113451031 113762176 4q26 4q26 607708 CAMK2D Calcium/calmodulin-dependent protein kinase II-delta CAMK2D 817 ENSG00000145349 Camk2d (MGI:1341265)
chr4 113899928 113980463 4q26 4q26 610010 ARSJ Arylsulfatase J ARSJ 79642 ENSG00000180801 Arsj (MGI:2443513)
chr4 114598401 114687913 4q26 4q26 601291 UGT8, CGT UDP glycosyltransferase 8 (cerebroside synthase) UGT8 7368 ENSG00000174607 Ugt8a (MGI:109522)
chr4 114824121 115114132 4q25-q26 4q26 615039 NDST4 N-deacetylase/N-sulfotransferase 4 NDST4 64579 ENSG00000138653 Ndst4 (MGI:1932545)
chr4 117083553 117085579 4q26 4q26 617505 TRAM1L1 Translocation-associated membrane protein 1-like 1 TRAM1L1 133022 ENSG00000174599 Tram1l1 (MGI:2443503)
chr4 118280037 118353041 4q25-q26 4q26 606709 PRSS12, BSSP3, MRT1 Protease, serine, 12 PRSS12 8492 ENSG00000164099 Mental retardation, autosomal recessive 1, 249500 (3), Autosomal recessive Prss12 (MGI:1100881)
chr4 118685369 118712269 4q26 4q26 616504 METTL14, KIAA1627 Methyltransferase-like 14 METTL14 57721 ENSG00000145388 Mettl14 (MGI:2442926)
chr4 118722822 118838682 4q26 4q26 607186 SEC24D, KIAA0755, CLCRP2 Sec24-related gene family, member D SEC24D 9871 ENSG00000150961 Cole-Carpenter syndrome 2, 616294 (3), Autosomal recessive Sec24d (MGI:1916858)
chr4 119135783 119187788 4q26-q27 4q26 605602 MYOZ2, CMH16 Myozenin 2 MYOZ2 51778 ENSG00000172399 Cardiomyopathy, hypertrophic, 16, 613838 (3), Autosomal dominant Myoz2 (MGI:1913063)
chr4 119212582 119295517 4q26 4q26 617431 USP53, KIAA1350 Ubiquitin-specific peptidase 53 USP53 54532 ENSG00000145390 Usp53 (MGI:2139607)
chr4 119317249 119322160 4q28-q31 4q26 134640 FABP2 Fatty acid-binding protein, intestinal FABP2 2169 ENSG00000145384 Fabp2 (MGI:95478)
chr4 119494394 119628825 4q26 4q26 603310 PDE5A Phosphodiesterase 5A PDE5A 8654 ENSG00000138735 Pde5a (MGI:2651499)
chr4 119900000 122800000 4q27 611598 CELIAC6, AIS5 Celiac disease, susceptibility to, 6 100188846 {Autoimmune disease, susceptibility to, 5}, 611598 (2); {Celiac disease, susceptibility to, 6}, 611598 (2)
chr4 119900000 122800000 4q27 612622 IDDM23 Diabetes mellitus, insulin-dependent, 23 100271697 associated with rs6534347 {Diabetes mellitus, insulin-dependent, 23}, 612622 (2)
chr4 119900000 130100000 4q27-q28.2 614333 MRT29 Mental retardation, autosomal recessive 29 100852393 between rs10518325 and rs10518608 Mental retardation, autosomal recessive 29, 614333 (2), Autosomal recessive
chr4 120059421 120066857 4q27 4q27 601467 MAD2L1 Mitotic arrest deficient, yeast, homolog-like 1 MAD2L1 4085 ENSG00000164109 previously mapped to 5q23-q31 Mad2l1 (MGI:1860374)
chr4 120684905 120922865 4q27 4q27 614161 PRDM5, BCS2 PR domain-containing protein 5 PRDM5 11107 ENSG00000138738 Brittle cornea syndrome 2, 614170 (3), Autosomal recessive Prdm5 (MGI:1918029)
chr4 121029292 121072517 4q27 4q27 616506 NDNF, C4orf31, NORD Neuron-derived neurotrophic factor NDNF 79625 ENSG00000173376 Ndnf (MGI:1915419)
chr4 121667996 121696993 4q26-q28 4q27 131230 ANXA5, ENX2, RPRGL3 Annexin A5 (endonexin II) ANXA5 308 ENSG00000164111 {Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3), Autosomal dominant Anxa5 (MGI:106008)
chr4 121801316 121817020 4q27 4q27 606180 EXOSC9, PMSCL1 Exosome component 9 EXOSC9 5393 ENSG00000123737 Exosc9 (MGI:1355319)
chr4 121816443 121824000 4q27 4q27 123835 CCNA, CCN1 Cyclin A CCNA2 890 ENSG00000145386 Ccna2 (MGI:108069)
chr4 121824328 121870496 4q27 4q27 607590 BBS7 BBS7 gene BBS7 55212 ENSG00000138686 Bardet-Biedl syndrome 7, 615984 (3), Autosomal recessive Bbs7 (MGI:1918742)
chr4 121875979 121952059 4q27 4q27 602345 TRPC3, TRP3, SCA41 Transient receptor potential cation channel, subfamily C, member 3 TRPC3 7222 ENSG00000138741 mutation identified in one SCA41 patient ?Spinocerebellar ataxia 41, 616410 (3), Autosomal dominant Trpc3 (MGI:109526)
chr4 122152332 122362758 4q27 4q27 611565 KIAA1109, ALKKUCS KIAA1109 gene KIAA1109 84162 ENSG00000138688 Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive 4932438A13Rik (MGI:2444631)
chr4 122378965 122429814 4q27 4q27 614130 ADAD1, TENR Adenosine deaminase domain-containing protein 1, testis-specific ADAD1 132612 ENSG00000164113 Adad1 (MGI:103258)
chr4 122449478 122456494 4q26-q27 4q27 147680 IL2 Interleukin-2 IL2 3558 ENSG00000109471 Il2 (MGI:96548)
chr4 122612627 122621056 4q26-q27 4q27 605384 IL21, CVID11 Interleukin 21 IL21 59067 ENSG00000138684 mutation identified in 1 CVID11 patient ?Immunodeficiency, common variable, 11, 615767 (3), Autosomal recessive Il21 (MGI:1890474)
chr4 122700436 122744942 4q27 4q27 610683 BBS12, FLJ35630, C4orf24 BBS12 gene BBS12 166379 ENSG00000181004 1Mb centromeric to BBS Bardet-Biedl syndrome 12, 615989 (3), Autosomal recessive Bbs12 (MGI:2686651)
chr4 122800000 154600000 4q28-q31 111800 SF Stoltzfus blood group 6420 ~25cM from MNSs [Blood group, Stoltzfus system], 111800 (2)
chr4 122826707 122898234 4q25-q27 4q28.1 134920 FGF2, FGFB Fibroblast growth factor-2 (basic) FGF2 2247 ENSG00000138685 many alternate names Fgf2 (MGI:95516)
chr4 122923069 123319449 4q28.1 4q28.1 613940 SPATA5, SPAF, EHLMRS Spermatogenesis-associated protein 5 SPATA5 166378 ENSG00000145375 Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive Spata5 (MGI:1927170)
chr4 123396790 123403759 4q28.1 4q28.1 602465 SPRY1 Sprouty, Drosophila, homolog of SPRY1 10252 ENSG00000164056 Spry1 (MGI:1345139)
chr4 125314912 125492931 4q28.1 4q28.1 612411 FAT4, VMLDS2, HKLLS2 FAT tumor suppressor, Drosophila, homolog of, 4 FAT4 79633 ENSG00000196159 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3), Autosomal recessive; Van Maldergem syndrome 2, 615546 (3), Autosomal recessive Fat4 (MGI:3045256)
chr4 127623270 127716778 4q28 4q28.1 610621 INTU, KIAA1284, PDZK6, SRTD20, OFD17 Inturned, Drosophila, homolog of INTU 27152 ENSG00000164066 mutation identified in 1 SRTD20 patient and 1 OFD17 patient ?Orofaciodigital syndrome XVII, 617926 (3), Autosomal recessive; ?Short-rib throacic dysplasia 20 with polydactyly, 617925 (3), Autosomal recessive Intu (MGI:2443752)
chr4 127730371 127774298 4q28.1 4q28.1 610796 SLC25A31, ANT4, AAC4 Solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 31 SLC25A31 83447 ENSG00000151475 Slc25a31 (MGI:1920583)
chr4 127880860 127899223 4q27-q28 4q28.1 605031 PLK4, STK18, SAK, MCCRP2 Polo-like kinase 4 (serine/threonine protein kinase-18) PLK4 10733 ENSG00000142731 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3), Autosomal recessive Plk4 (MGI:101783)
chr4 127917804 127966031 4q28.1-q28.2 4q28.2 611124 MFSD8, MGC33302, CLN7, CCMD Major facilitator superfamily domain-containing protein 8 MFSD8 256471 ENSG00000164073 Ceroid lipofuscinosis, neuronal, 7, 610951 (3), Autosomal recessive; Macular dystrophy with central cone involvement, 616170 (3), Autosomal recessive Mfsd8 (MGI:1919425)
chr4 128269236 128288828 4q26 4q28.2 607735 PGRMC2 Progesterone receptor membrane component 2 PGRMC2 10424 ENSG00000164040 Pgrmc2 (MGI:1918054)
chr4 128809622 128875223 4q28.2 4q28.2 610514 PHF17, JADE1 PHD finger protein 17 JADE1 79960 ENSG00000077684 Jade1 (MGI:1925835)
chr4 128874389 129093606 4q28.2 4q28.2 611399 SCLT1, CAP1A Sodium channel and clathrin linker 1 SCLT1 132320 ENSG00000151466 Sclt1 (MGI:1914411)
chr4 133149289 133208605 4q28.3 4q28.3 608286 PCDH10, KIAA1400 Protocadherin 10 PCDH10 57575 ENSG00000138650 Pcdh10 (MGI:1338042)
chr4 137518917 137532529 4q31 4q28.3 608287 PCDH18, KIAA1562 Protocadherin 18 PCDH18 54510 ENSG00000189184 Pcdh18 (MGI:1920423)
chr4 138164093 138242348 4q28.3 4q28.3 607933 SLC7A11, XCT Solute carrier family 7 (cationic amino acid transporter, y+ system), member 11 SLC7A11 23657 ENSG00000151012 Slc7a11 (MGI:1347355)
chr4 138500000 154600000 4q31 609782 AAA2 Aortic aneurysm, familial abdominal 2 100505390 max lod at D4S1644 Aortic aneurysm, familial abdominal 2, 609782 (2)
chr4 138500000 154600000 4q31 605428 DFNB26 Deafness, autosomal recessive 26 DFNB26 23714 Deafness, autosomal recessive 26, 605428 (2), Autosomal recessive
chr4 138500000 182300000 4q31-q34 609985 PAND3 Panic disorder 3 677663 max lod at D4S413 Panic disorder 3, 609985 (2)
chr4 138500000 182300000 4q31-q34 607857 PSORS9 Psoriasis susceptibility 9 PSORS9 359825 max lod at D4S1597 {Psoriasis susceptibility 9}, 607857 (2)
chr4 138500000 154600000 4q31 612224 STQTL12 Stature quantitative trait locus 12 100301523 associated with rs6854783 {Stature QTL 12}, 612224 (2)
chr4 139015758 139045938 4q31.1 4q31.1 608468 CCRN4L, CCR4L, CCR4 Carbon catabolite repression 4-like NOCT 25819 ENSG00000151014 Noct (MGI:109382)
chr4 139289916 139302550 4q28.2-q31.1 4q31.1 603844 NDUFC1 NADH-ubiquinone oxidoreductase 1, subcomplex C1 NDUFC1 4717 ENSG00000109390 Ndufc1 (MGI:1913627)
chr4 139301466 139390780 4q31.1 4q31.1 608000 NAA15, NARG1, NATH, MRD50 N-alpha-acetyltransferase 15, NatA auxiliary subunit NAA15 80155 ENSG00000164134 Mental retardation, autosomal dominant 50, 617787 (3), Autosomal dominant Naa15 (MGI:1922088)
chr4 139453231 139475915 4q31.1 4q31.1 605950 RAB33B, SMC2 Ras-associated protein RAB33B RAB33B 83452 ENSG00000172007 Smith-McCort dysplasia 2, 615222 (3), Autosomal recessive Rab33b (MGI:1330805)
chr4 139495933 139556768 4q31.1 4q31.1 606594 SETD7, SET7, KIAA1717 SET domain-containing protein 7 SETD7 80854 ENSG00000145391 Setd7 (MGI:1920501)
chr4 139665724 139754607 4q28-q31 4q31.1 601733 MGST2, GST2 Microsomal glutathione S-transferase 2 MGST2 4258 ENSG00000085871 Mgst2 (MGI:2448481)
chr4 139716390 140154078 4q28.3 4q31.1 608991 MAML3, MAM2, KIAA1816 Mastermind-like 3 MAML3 55534 ENSG00000196782 Maml3 (MGI:2389461)
chr4 140388452 140427660 4q31.1 4q31.1 601858 CLGN Calmegin CLGN 1047 ENSG00000153132 Clgn (MGI:107472)
chr4 140442256 140499045 4q31.1 4q31.1 610310 LOC152586 LOC152586 gene MGAT4D 152586 ENSG00000205301 Mgat4d (MGI:1914805)
chr4 140524145 140553769 4q31.1 4q31.1 610196 ELMOD2 ELMO domain-containing protein 2 ELMOD2 255520 ENSG00000179387 Elmod2 (MGI:2445165)
chr4 140555769 140568913 4q31 4q31.1 113730 UCP1 Uncoupling protein 1 (mitochondrial, proton carrier) UCP1 7350 ENSG00000109424 {Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Ucp1 (MGI:98894)
chr4 141220293 141234696 4q31.1-q31.2 4q31.21 609550 ZNF330, NOA36 Zinc finger protein 330 ZNF330 27309 ENSG00000109445 Zfp330 (MGI:1353574)
chr4 141636595 141733986 4q31 4q31.21 600554 IL15 Interleukin-15 IL15 3600 ENSG00000164136 Il15 (MGI:103014)
chr4 143336829 143474564 4q13.1 4q31.21 604439 GAB1 Grb2-associated binding protein 1 GAB1 2549 ENSG00000109458 Gab1 (MGI:108088)
chr4 143513462 143557488 4q31.1-q31.2 4q31.21 603375 SMARCA5, SNF2H SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 5 SMARCA5 8467 ENSG00000153147 Smarca5 (MGI:1935129)
chr4 143577406 143700674 4q31.2 4q31.21 608946 FREM3 FRAS1-related extracellular matrix protein 3 FREM3 166752 ENSG00000183090 Frem3 (MGI:2685641)
chr4 143870865 143912130 4q28-q31 4q31.21 138590 GYPE, GPE Glycophorin E GYPE 2996 ENSG00000197465 tandem: 5'-GYPA-GYPB-GYPE-3'; ?4q31.1
chr4 143995171 144021860 4q28-q31 4q31.21 617923 GYPB, SS Glycophorin B GYPB 2994 ENSG00000250361 [Blood group, Ss], 111740 (3); {Malaria, resistance to}, 611162 (3)
chr4 144109302 144140853 4q28.2-q31.1 4q31.21 617922 GYPA, MN, GPA Glycophorin A GYPA 2993 ENSG00000170180 [Blood group, MNSs system], 111300 (3); {Malaria, resistance to}, 611162 (3)
chr4 144645995 144740704 4q28-q32 4q31.21 606178 HHIP, HIP Hedgehog-interacting protein HHIP 64399 ENSG00000164161 Hhip (MGI:1341847)
chr4 144967116 145098540 4q31.21 4q31.21 613745 ANAPC10, DOC1, APC10 Anaphase-promoting complex, subunit 10 ANAPC10 10393 ENSG00000164162 Anapc10 (MGI:1916249)
chr4 145098003 145129523 4q31 4q31.21 601213 ABCE1, RNASELI, RNS4I ATP-binding cassette, subfamily E, member 1 (ribonuclease L inhibitor) ABCE1 6059 ENSG00000164163 Abce1 (MGI:1195458)
chr4 145133649 145180018 4q31.2 4q31.21 611744 OTUD4, KIAA1046, HIN1 OTD domain-containing protein 4 OTUD4 54726 ENSG00000164164 Otud4 (MGI:1098801)
chr4 145481305 145559175 4q28 4q31.21 601595 SMAD1, MADH1, MADR1, BSP1 Mothers against decapentaplegic, Drosophila, homolog of, 1 SMAD1 4086 ENSG00000170365 Smad1 (MGI:109452)
chr4 145619387 145660034 4q31.1-q31.2 4q31.21 607481 MMAA MMAA gene MMAA 166785 ENSG00000151611 Methylmalonic aciduria, vitamin B12-responsive, 251100 (3), Autosomal recessive Mmaa (MGI:1923805)
chr4 146175682 146204435 4q31.2 4q31.22 607286 LSM6 LSM6 protein LSM6 11157 ENSG00000164167 Lsm6 (MGI:1925901)
chr4 146638892 146642470 4q31.2 4q31.22 113725 BRN3B Brn3b POU domain transcription factor POU4F2 5458 ENSG00000151615 Pou4f2 (MGI:102524)
chr4 147480916 147544953 4q31.2 4q31.22-q31.23 131243 EDNRA, MFDA Endothelin receptor type A EDNRA 1909 ENSG00000151617 Mandibulofacial dysostosis with alopecia, 616367 (3), Autosomal dominant; {Migraine, resistance to}, 157300 (3), Autosomal dominant Ednra (MGI:105923)
chr4 147617370 147637272 4q31.21 4q31.23 613937 TMEM184C, TMEM34 Transmembrane protein 184C TMEM184C 55751 ENSG00000164168 Tmem184c (MGI:2384562)
chr4 147635649 147684229 4q31.23 4q31.23 616125 PRMT9, PRMT10 Protein arginine methyltransferase 9 PRMT9 90826 ENSG00000164169 Prmt9 (MGI:2142651)
chr4 147732062 148072780 4q31.2 4q31.23 609746 ARHGAP10, GRAF2, PSGAP RHO GTPase-activating protein 10 ARHGAP10 79658 ENSG00000071205 Arhgap10 (MGI:1925764)
chr4 148078763 148444697 4q31.1 4q31.23 600983 NR3C2, MLR, MCR Nuclear receptor subfamily 3, group C, member 2 (mineralocorticoid receptor; aldosterone receptor) NR3C2 4306 ENSG00000151623 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3); Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3), Autosomal dominant Nr3c2 (MGI:99459)
chr4 150078273 150257456 4q31.23 4q31.2-q31.3 613166 DCLK2, DCK2, CLIK2, CL2 Doublecortin-like kinase 2 DCLK2 166614 ENSG00000170390 Dclk2 (MGI:1918012)
chr4 150200000 169200000 4q31.3-q32.3 611644 HSCR9 Hirschsprung disease, susceptibility to, 9 100188850 between D4S3049 and D4S1566 {Hirschsprung disease, susceptibility to, 9}, 611644 (2)
chr4 150264514 151015726 4q31.3 4q31.3 606453 LRBA, LBA, CDC4L, CVID8 Lipopolysaccharide-responsive, beige-like anchor protein LRBA 987 ENSG00000198589 Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3), Autosomal recessive Lrba (MGI:1933162)
chr4 150581924 150584692 4q31.3 4q31.3 604357 MAB21L2, MCSKS14 MAB21, C. elegans, homolog-like 2 MAB21L2 10586 ENSG00000181541 Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 (3), Autosomal recessive, Autosomal dominant Mab21l2 (MGI:1346022)
chr4 151099572 151104651 4q31.2-q31.3 4q31.3 180478 RPS3A Ribosomal protein S3a RPS3A 6189 ENSG00000145425
chr4 151103826 151103890 4q31.3 4q31.3 603568 SNORD73A, RNU73 Small nucleolar RNA, C/D box 73A SNORD73A 8944
chr4 151120280 151325664 4q31.3 4q31.3 608674 SH3D19, EBP SH3 domain protein 19 SH3D19 152503 ENSG00000109686 fused with AML1 in t(4;21) Sh3d19 (MGI:1350923)
chr4 151670655 151761022 4q31.328 4q31.3 603645 GATB, PET112 Glutamyl-tRNA amidotransferase, subunit B GATB 5188 ENSG00000059691 Gatb (MGI:2442496)
chr4 152321257 152536872 4q31.3 4q31.3 606278 FBXW7, AGO, CDC4 F-box and WD40 domain protein 7 FBXW7 55294 ENSG00000109670 Fbxw7 (MGI:1354695)
chr4 153152280 153339321 4q31.3 4q31.3 614141 TRIM2, KIAA0517, CMT2R Tripartite motif-containing protein 2 TRIM2 23321 ENSG00000109654 Charcot-Marie-Tooth disease, type 2R, 615490 (3), Autosomal recessive Trim2 (MGI:1933163)
chr4 153344648 153415096 4q31.3 4q31.3 611422 MND1 Meiotic nuclear division 1, S. cerevisiae, homolog of MND1 84057 ENSG00000121211 Mnd1 (MGI:1924165)
chr4 153466345 153637607 4q31.3 4q31.3 616243 KIAA0922, TMEM131L KIAA0922 gene TMEM131L 23240 ENSG00000121210 Tmem131l (MGI:2443399)
chr4 153684079 153710642 4q32 4q31.3 603028 TLR2, TIL4 Toll-like receptor-2 TLR2 7097 ENSG00000137462 {Colorectal cancer, susceptibility to}, 114500 (3), Autosomal dominant; {Leprosy, susceptibility to}, 246300 (3), Autosomal dominant; {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) Tlr2 (MGI:1346060)
chr4 153780589 153789075 4q31.3 4q31.3 604157 SFRP2, SARP1 Secreted frizzled-related protein 2 SFRP2 6423 ENSG00000145423 Sfrp2 (MGI:108078)
chr4 154234374 154491724 4q31.3 4q31.3 612486 DCHS2, CDHJ, PCDHJ Dachsous, Drosophila, homolog of, 2 DCHS2 54798 ENSG00000197410
chr4 154534996 154550432 4q31.2-q32.1 4q31.3 605961 PLRG1, PRL1 Pleiotropic regulator 1 PLRG1 5356 ENSG00000171566 Plrg1 (MGI:1858197)
chr4 154562979 154572762 4q28 4q31.3 134830 FGB Fibrinogen, beta polypeptide FGB 2244 ENSG00000171564 4q31 by A; proximal to GYPB/GYPA Afibrinogenemia, congenital, 202400 (3), Autosomal recessive; Dysfibrinogenemia, congenital, 616004 (3); Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive Fgb (MGI:99501)
chr4 154583125 154590765 4q28 4q31.3 134820 FGA Fibrinogen, alpha polypeptide FGA 2243 ENSG00000171560 Afibrinogenemia, congenital, 202400 (3), Autosomal recessive; Amyloidosis, familial visceral, 105200 (3), Autosomal dominant; Dysfibrinogenemia, congenital, 616004 (3); Hypodysfibrinogenemia, congenital, 616004 (3) Fga (MGI:1316726)
chr4 154600000 182300000 4q32-q34 612165 RP29 Retinitis pigmentosa 29 RP29 54110 maximum lod at D4S415 Retinitis pigmentosa 29, 612165 (2), Autosomal recessive
chr4 154600000 163600000 4q32.1-q32.2 613603 TRIP4q32.1q32.2, C4TRIPq32.1q32.2 Chromosome 4q32.1-q32.2 triplication syndrome Chromosome 4q32.1-q32.2 triplication syndrome, 613603 (4), Autosomal dominant
chr4 154604133 154612807 4q28 4q32.1 134850 FGG Fibrinogen, gamma polypeptide FGG 2266 ENSG00000171557 linked to MN Afibrinogenemia, congenital, 202400 (3), Autosomal recessive; Dysfibrinogenemia, congenital, 616004 (3); Hypodysfibrinogenemia, 616004 (3); Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive Fgg (MGI:95526)
chr4 154740840 154753118 4q31 4q32.1 604863 LRAT, LCA14 Lecithin retinol acyltransferase LRAT 9227 ENSG00000121207 Leber congenital amaurosis 14, 613341 (3), Autosomal recessive; Retinal dystrophy, early-onset severe, 613341 (3), Autosomal recessive; Retinitis pigmentosa, juvenile, 613341 (3), Autosomal recessive Lrat (MGI:1891259)
chr4 155173513 155217077 4q31 4q32.1 162642 NPY2R Neuropeptide Y receptor Y2 NPY2R 4887 ENSG00000185149 Npy2r (MGI:108418)
chr4 155342657 155376969 4q32 4q32.1 610070 ASAP Aster-associated protein MAP9 79884 ENSG00000164114 Map9 (MGI:2442208)
chr4 155666709 155737061 4q32 4q32.1 139396 GUCY1A3, GUC1A3, GUCSA3, MYMY6 Guanylate cyclase 1, soluble, alpha 3 GUCY1A1 2982 ENSG00000164116 Moyamoya 6 with achalasia, 615750 (3), Autosomal recessive Gucy1a1 (MGI:1926562)
chr4 155758972 155807641 4q32 4q32.1 139397 GUCY1B3, GUC1B3, GUCSB3 Guanylate cyclase 1, soluble, beta 3 GUCY1B1 2983 ENSG00000061918 Gucy1b1 (MGI:1860604)
chr4 155829698 155867302 4q31.3-q32 4q32.1 616693 ASIC5, HINAC Acid-sensing ion channel family member 5 ASIC5 51802 ENSG00000256394 Asic5 (MGI:1929259)
chr4 155903692 155920405 4q31-q32 4q32.1 191070 TDO2, TPH2, TRPO, HYPTRP Tryptophan oxygenase TDO2 6999 ENSG00000151790 mutation identified in 1 HYPTRP patient [?Hypertryptophanemia], 600627 (3), Autosomal recessive Tdo2 (MGI:1928486)
chr4 155924117 155953895 4q32.1 4q32.1 600550 CTSO Cathepsin O CTSO 1519 ENSG00000256043 Ctso (MGI:2139628)
chr4 156761610 156971393 4q32 4q32.1 608452 PDGFC Platelet-derived growth factor C PDGFC 56034 ENSG00000145431 Pdgfc (MGI:1859631)
chr4 157076124 157172089 4q31.3 4q32.1 138492 GLRB, HKPX2 Glycine receptor, beta subunit GLRB 2743 ENSG00000109738 Hyperekplexia 2, autosomal recessive, 614619 (3) Glrb (MGI:95751)
chr4 157220583 157370582 4q32-q33 4q32.1 138247 GRIA2, GLUR2 Glutamate receptor, ionotropic, AMPA 2 GRIA2 2891 ENSG00000120251 Gria2 (MGI:95809)
chr4 158521710 158653371 4q32 4q32.1 606654 RXFP1, LGR7 Relaxin/insulin-like family peptide receptor 1 RXFP1 59350 ENSG00000171509 Rxfp1 (MGI:2682211)
chr4 158666674 158672254 4q32.1 4q32.1 616210 C4orf46, RCDG1 Chromosome 4 open reading frame 46 C4orf46 201725 ENSG00000205208 4930579G24Rik (MGI:1923189)
chr4 158672100 158708712 4q32-qter 4q32.1 231675 ETFDH, MADD Electron transfer flavoprotein:ubiquinone oxidoreductase ETFDH 2110 ENSG00000171503 Glutaric acidemia IIC, 231680 (3), Autosomal recessive Etfdh (MGI:106100)
chr4 158709126 158723399 4q31.3 4q32.1 601753 PPID Peptidylprolyl isomerase D (cyclophilin D) PPID 5481 ENSG00000171497 Ppid (MGI:1914988)
chr4 158768994 158908049 4q32.1 4q32.1 612768 FNIP2, FNIPL, KIAA1450 Folliculin-interacting protein 2 FNIP2 57600 ENSG00000052795 Fnip2 (MGI:2683054)
chr4 163109132 163166920 4q32.2 4q32.2 617868 NAF1 Nuclear assembly factor 1 ribonucleoprotein NAF1 92345 ENSG00000145414 Naf1 (MGI:2682306)
chr4 163323964 163344831 4q31.3-q32 4q32.2 162641 NPY1R Neuropeptide Y receptor NPY1R 4886 ENSG00000164128 Npy1r (MGI:104963)
chr4 163336967 163352276 4q31-q32 4q32.2 602001 NPY5R Neuropeptide Y receptor Y5 NPY5R 4889 ENSG00000164129 Npy5r (MGI:108082)
chr4 163524297 164384049 4q32.2-q32.3 4q32.2-q32.3 613331 MARCH1 Membrane-associated RING-CH finger protein 1 MARCH1 55016 ENSG00000145416 March1 (MGI:1920175)
chr4 163600000 169200000 4q32.3 611109 CINN Cinnamon odor, pleasantness of 100188835 max lod at AFM295YES [Cinnamon odor, pleasantness of], 611109 (2)
chr4 163600000 169200000 4q32.3 610239 HDLCQ4 High density lipoprotein cholesterol level QTL 4 100188806 between D4S1597 and D4S1539 [High density lipoprotein cholesterol level QTL 4], 610239 (2)
chr4 164197006 164197710 4q32.3 4q32.3 606877 ANP32C, PP32R1 Acidic leucine-rich nuclear phosphoprotein 32 family, member C ANP32C 23520
chr4 164876987 164899062 4q32.3 4q32.3 615594 ELA, LOC100506013 Elabela APELA 100506013 ENSG00000248329
chr4 165207617 165323155 4q21.2 4q32.3 605774 KLHL2, MAYVEN Kelch-like 2 KLHL2 11275 ENSG00000109466 Klhl2 (MGI:1924363)
chr4 165327665 165343163 4q32-q34 4q32.3 607545 MSMO1, SC4MOL, ERG25, MCCPD Methylsterol monooxygenase 1 MSMO1 6307 ENSG00000052802 Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3), Autosomal recessive Msmo1 (MGI:1913484)
chr4 165378941 165498546 4q32.3 4q32.3 114855 CPE Carboxypeptidase E CPE 1363 ENSG00000109472 Cpe (MGI:101932)
chr4 165873123 166105177 4q32-q33 4q32.3 606742 TLL1, TLL, ASD6 Tolloid-like 1 TLL1 7092 ENSG00000038295 Atrial septal defect 6, 613087 (3), Autosomal dominant Tll1 (MGI:106923)
chr4 166733383 167234868 4q32.3 4q32.3 607989 SPOCK3 SPARC/osteonectin, CWCV, and KAZAL-like domains proteoglycan 3 SPOCK3 50859 ENSG00000196104 Spock3 (MGI:1920152)
chr4 168092524 168187741 4q33 4q32.3 608008 ANXA10 Annexin A10 ANXA10 11199 ENSG00000109511 Anxa10 (MGI:1347090)
chr4 168216290 168325980 4q32.3 4q32.3 613974 DDX60 DEAD box polypeptide 60 DDX60 55601 ENSG00000137628 Ddx60 (MGI:2384570)
chr4 168356734 168480513 4q32.3 4q32.3 616725 DDX60L DEAD box polypeptide 60-like DDX60L 91351 ENSG00000181381
chr4 168497038 168928456 4q32.3 4q32.3 608092 PALLD, KIAA0992, PNCA1 Palladin, mouse, homolog of PALLD 23022 ENSG00000129116 {Pancreatic cancer, susceptibility to, 1}, 606856 (3) Palld (MGI:1919583)
chr4 169200000 190214555 4q33-qter 607258 HCA1 Hypercalciuria, absorptive, 1 266790 Hypercalciuria, absorptive, 607258 (2)
chr4 169393269 169612628 4q33 4q33 604588 NEK1, SRTD6, SRPS2A, ALS24 Never in mitosis gene A-related kinase 1 NEK1 4750 ENSG00000137601 1 patient showed heterozygous NEK2 and DYNC2H1 mutations {Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3); Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3), Autosomal recessive, Digenic recessive Nek1 (MGI:97303)
chr4 169620520 169723186 4q33 4q33 600580 CLCN3 Chloride channel-3 CLCN3 1182 ENSG00000109572 Clcn3 (MGI:103555)
chr4 169729467 169757941 4q33 4q33 616614 HPF1, C4orf27 Histone parylation factor 1 HPF1 54969 ENSG00000056050 Hpf1 (MGI:1919862)
chr4 169986596 170033027 4q32.3 4q33 616523 MFAP3L, KIAA0626 Microfibrillar-associated protein 3-like MFAP3L 9848 ENSG00000198948 Mfap3l (MGI:1918556)
chr4 170060221 170091698 4q32.2 4q33 611754 AADAT, KAT2 Alpha-aminoadipate aminotransferase AADAT 51166 ENSG00000109576 Aadat (MGI:1345167)
chr4 171812655 173040407 4q34.1 4q34.1 615138 GALNTL6, GALNACT20 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 GALNTL6 442117 ENSG00000174473 Galntl6 (MGI:1913581)
chr4 173168752 173323966 4q31.1 4q34.1 605005 GALNT7 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 GALNT7 51809 ENSG00000109586 Galnt7 (MGI:1349449)
chr4 173331375 173334443 4q31 4q34.1 163906 HMGB2, HMG2 High-mobility group box 2 (high-mobility group (nonhistone chromosomal) protein 2) HMGB2 3148 ENSG00000164104 Hmgb2 (MGI:96157)
chr4 173370941 173377531 4q34.1 4q34.1 603378 SAP30 SIN3-associated polypeptide, 30kD SAP30 8819 ENSG00000164105 Sap30 (MGI:1929129)
chr4 173388147 173519237 4q34.1 4q34.1 603163 SCRG1 Scraptie-responsive gene 1 SCRG1 11341 ENSG00000164106 Scrg1 (MGI:1328308)
chr4 173526500 173530226 4q33 4q34.1 602407 HAND2, DHAND2, DHAND Heart- and neural crest derivative-expressed 2 HAND2 9464 ENSG00000164107 Hand2 (MGI:103580)
chr4 173528599 173591254 4q34.1 4q34.1 617240 HAND2AS1, UPH, DEIN HAND2 antisense RNA 1, noncoding (Upperhand) HAND2-AS1 79804
chr4 173615735 173616841 4q33-q34.1 4q34.1 116960 MORF4, SEN1, CSRB Mortality factor 4 (senescence-related, cellular, 1) MORF4 10934
chr4 174236657 174284250 4q34.1 4q34.1 605649 FBXO8, FBX8, FBS F-box only protein 8 FBXO8 26269 ENSG00000164117 Fbxo8 (MGI:1354696)
chr4 174423794 174423863 4q34.1 4q34.1 616274 MIR4276 Micro RNA 4276 MIR4276 100423042
chr4 174490176 174522897 4q34-q35 4q34.1 601688 HPGD, PGDH1, PHOAR1 Hydroxyprostaglandin dehydrogenase 15-(NAD) HPGD 3248 ENSG00000164120 Cranioosteoarthropathy, 259100 (3), Autosomal recessive; Digital clubbing, isolated congenital, 119900 (3), Autosomal recessive; Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3), Autosomal recessive Hpgd (MGI:108085)
chr4 174642010 174829567 4q33-q34 4q34.1 600421 GLRA3 Glycine receptor, alpha-3 polypeptide GLRA3 8001 ENSG00000145451 Glra3 (MGI:95749)
chr4 174918357 174978179 4q34 4q34.1 604778 ADAM29 A disintegrin and metalloproteinase domain 29 ADAM29 11086 ENSG00000168594 Adam29 (MGI:2676326)
chr4 175632936 176002690 4q34 4q34.2 601275 GPM6A, M6A Glycoprotein M6A GPM6A 2823 ENSG00000150625 Gpm6a (MGI:107671)
chr4 176065833 176182827 4q34 4q34.2 609005 WDR17 WD repeat-containing protein 17 WDR17 116966 ENSG00000150627 Wdr17 (MGI:1924662)
chr4 176184573 176195670 4q34.1-q34.2 4q34.2 609879 SPATA4, TSARG2 Spermatogenesis-associated protein 4 SPATA4 132851 ENSG00000150628 Spata4 (MGI:1916531)
chr4 176213672 176277570 4q34.2 4q34.2 615050 ASB5 Ankyrin repeat- and SOCS box-containing protein 5 ASB5 140458 ENSG00000164122 Asb5 (MGI:1923544)
chr4 176600000 190214555 4q34.3-q35.2 600361 HMSN5 Hereditary motor and sensory neuropathy V 101059903 D4S1552 and D4S2930 Hereditary motor and sensory neuropathy V, 600361 (2), Autosomal dominant
chr4 176600000 186200000 4q34.3-q35.1 613371 SCA30 Spinocerebellar ataxia 30 SCA30 100359393 between rs1397413 and rs2175476; max lod 3.0 ?Spinocerebellar ataxia 30, 613371 (2), Autosomal dominant
chr4 176683533 176792744 4q34.3 4q34.3 601528 VEGFC, VRP, LMPH1D Vascular endothelial growth factor C VEGFC 7424 ENSG00000150630 Lymphedema, hereditary, ID, 615907 (3), Autosomal dominant Vegfc (MGI:109124)
chr4 177430773 177442502 4q32-q33 4q34.3 613228 AGA Aspartylglucosaminidase AGA 175 ENSG00000038002 Aspartylglucosaminuria, 208400 (3), Autosomal recessive Aga (MGI:104873)
chr4 181447612 182803023 4q35.1 4q34.3-q35.1 610083 TENM3, ODZ3, TNM3, KIAA1455, MCOPCB9 Teneurin transmembrane protein 3 TENM3 55714 ENSG00000218336 Microphthalmia, isolated, with coloboma 9, 615145 (3), Autosomal recessive Tenm3 (MGI:1345183)
chr4 182300000 190214555 4q35-qter 606282 DFNA24 Deafness, autosomal dominant 24 DFNA24 23723 Deafness, autosomal dominant 24, 606282 (2), Autosomal dominant
chr4 182300000 190214555 4q35 127600 DKBI Dyskeratosis, hereditary benign intraepithelial 80870 Dyskeratosis, hereditary benign intraepithelial, 127600 (2), Autosomal dominant
chr4 182300000 190214555 4q35 158900 FSHD1, FSHD1A Facioscapulohumeral muscular dystrophy 1 due to D4Z4 macrosatellite repeat on 4q35 Facioscapulohumeral muscular dystrophy 1, 158900 (4), Autosomal dominant
chr4 182890090 182917476 4q35 4q35.1 607638 DCTD Deoxycytidylate deaminase DCTD 1635 ENSG00000129187 Dctd (MGI:2444529)
chr4 183444590 183449063 4q35.1 4q35.1 615914 CDKN2AIP, CARF Cyclin-dependent kinase inhibitor 2A-interacting protein CDKN2AIP 55602 ENSG00000168564 Cdkn2aip (MGI:1918175)
chr4 183505049 183512427 4q35.1 4q35.1 604215 ING2, ING1L Inhibitor of growth 2 ING2 3622 ENSG00000168556 Ing2 (MGI:1916510)
chr4 183659266 183713593 4q35.1 4q35.1 614138 TRAPPC11, C4orf41, LGMD2S Trafficking protein particle complex, subunit 11 TRAPPC11 60684 ENSG00000168538 Muscular dystrophy, limb-girdle, type 2S, 615356 (3), Autosomal recessive Trappc11 (MGI:2444585)
chr4 183796330 184023529 4q35 4q35.1 617359 STOX2, KIAA1392 Storkhead box 2 STOX2 56977 ENSG00000173320 Stox2 (MGI:1918319)
chr4 184088705 184217960 4q35.1 4q35.1 616983 ENPP6 Ectonucleotide pyrophosphatase/phosphodiesterase 6 ENPP6 133121 ENSG00000164303 Enpp6 (MGI:2445171)
chr4 184382740 184474579 4q35.1 4q35.1 147576 IRF2 Interferon regulatory factor-2 IRF2 3660 ENSG00000168310 Irf2 (MGI:96591)
chr4 184627695 184649474 4q35 4q35.1 600636 CASP3, CPP32 Caspase 3, apoptosis-related cysteine protease CASP3 836 ENSG00000164305 Casp3 (MGI:107739)
chr4 184649612 184694958 4q35.1 4q35.1 615421 CCDC111, MYP22 Coiled-coil domain containing 111 PRIMPOL 201973 ENSG00000164306 Myopia 22, autosomal dominant, 615420 (3), Autosomal dominant Primpol (MGI:3603756)
chr4 184694064 184734131 4q35.1 4q35.1 611511 MLF1IP, CENPU, CENP50 MLF1-interacting protein (centromere protein U) CENPU 79682 ENSG00000151725 Cenpu (MGI:1919126)
chr4 184755594 184826592 4q34-q35 4q35.1 152425 ACSL1, FACL2, FACL1, LACS, ACS1 Acyl-CoA synthetase long-chain family member 1 ACSL1 2180 ENSG00000151726 Acsl1 (MGI:102797)
chr4 185018840 185021264 4q35.1 4q35.1 617546 HELT, HESL, MGN HELT basic helix-loop-helix transcription factor HELT 391723 ENSG00000187821 Helt (MGI:3040955)
chr4 185143262 185150383 4q35 4q35.1 103220 SLC25A4, ANT1, T1, PEO3, PEO2, MTDPS12A, PEOA2 Solute carrier family 25 (mitochondrial carrier) member 4 (adenine nucleotide translocator-1, skeletal muscle) SLC25A4 291 ENSG00000151729 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3), Autosomal dominant; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3), Autosomal dominant Slc25a4 (MGI:1353495)
chr4 185151722 185205442 4q35.1 4q35.1 616047 CFAP97, HMW, KIAA1430 Cilia- and flagella-associated protein 97 CFAP97 57587 ENSG00000164323 Cfap97 (MGI:1914006)
chr4 185399539 185425984 4q35.1 4q35.1 611482 UFSP2, C4orf20, BHD UFM1-specific protease 2 UFSP2 55325 ENSG00000109775 mutation identified in 1 BHD family ?Hip dysplasia, Beukes type, 142669 (3), Autosomal dominant Ufsp2 (MGI:1913679)
chr4 185445181 185471758 4q35.1 4q35.1 609488 KMHN1 Cancer/testis antigen KM-HN-1 CCDC110 256309 ENSG00000168491 Ccdc110 (MGI:2685018)
chr4 185500659 185535557 4q35 4q35.1 605889 ALP Actinin-associated LIM protein PDLIM3 27295 ENSG00000154553
chr4 185585443 185956715 4q35.1 4q35.1 616349 SORBS2, ARGBP2, KIAA0777 Sorbin and SH3 domains-containing protein 2 SORBS2 8470 ENSG00000154556 Sorbs2 (MGI:1924574)
chr4 186069154 186085097 4q35 4q35.1 603029 TLR3, IIAE2 Toll-like receptor-3 TLR3 7098 ENSG00000164342 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3), Autosomal recessive, Autosomal dominant; {HIV1 infection, resistance to}, 609423 (3) Tlr3 (MGI:2156367)
chr4 186191519 186213462 4q35.1 4q35.1-q35.2 608614 CYP4V2, BCD Cytochrome P450, family 4, subfamily V, polypeptide 2 CYP4V2 285440 ENSG00000145476 Bietti crystalline corneoretinal dystrophy, 210370 (3), Autosomal recessive Cyp4v3 (MGI:2142763)
chr4 186215713 186258476 4q35 4q35.2 229000 KLKB1, KLK3, PKKD Kallikrein B plasma 1 (Fletcher factor) KLKB1 3818 ENSG00000164344 similar to F11 Fletcher factor (prekallikrein) deficiency, 612423 (3), Autosomal recessive Klkb1 (MGI:102849)
chr4 186265963 186290726 4q35 4q35.2 264900 F11 Coagulation factor XI (plasma thromboplastin antecedent) F11 2160 ENSG00000088926 not closely linked to MNS Factor XI deficiency, autosomal dominant, 612416 (3); Factor XI deficiency, autosomal recessive, 612416 (3) F11 (MGI:99481)
chr4 186532768 186555566 4q35.1 4q35.2 600665 MTNR1A Melatonin receptor 1A MTNR1A 4543 ENSG00000168412 Mtnr1a (MGI:102967)
chr4 186587782 186726695 4q34-q35 4q35.2 600976 FAT1, FAT FAT tumor suppressor, Drosophila, homolog of, 1 FAT1 2195 ENSG00000083857 Fat1 (MGI:109168)
chr4 187994043 188005049 4q35.2 4q35.2 614572 ZFP42, REX1 Zinc finger protein 42 ZFP42 132625 ENSG00000179059 Zfp42 (MGI:99187)
chr4 189940818 189963203 4q35 4q35.2 601278 FRG1, FSG1 Facioscapulohumeral muscular dystrophy region gene-1 FRG1 2483 ENSG00000109536 Frg1 (MGI:893597)
chr4 190021168 190022664 4q35 4q35.2 615581 DUX4L9, DUX4C Double homeobox 4-like 9 DUX4L9 100288711
chr4 190024366 190027256 4q35 4q35.2 609032 FRG2 Facioscapulohumeral muscular dystrophy region gene 2 FRG2 448831 ENSG00000205097 Frg2f8,Frg2f7,Frg2f9,Frg2f2,Frg2f1,Frg2f4,Frg2f3,Frg2f10,Frg2f6,Frg2f11,Frg2f5,Frg2f12,Frg2f13 (MGI:3643940,MGI:3782846,MGI:3782845,MGI:3779576,MGI:3647970,MGI:3779574,MGI:3647962,MGI:3648470,MGI:3644083,MGI:3648177,MGI:3035485,MGI:3643939,MGI:3805017)
chr4 190064501 190067863 4q35 4q35.2 614865 DBET D4A4 binding element transcript, noncoding DBET 100419743
chr4 190067934 190069218 4q35.2 4q35.2 611442 DUX2 Double homeobox protein 2 DUX4L8 26583 ?10q26.3
chr4 190173700 190185910 4q35 4q35.2 606009 DUX4 Double homeo box protein 4 DUX4 100288687 ENSG00000260596
chr4 0 190214555 Chr.4 151450 LAG5 Leukocyte antigen group 5 7895 Neutropenia, neonatal alloimmune (1)
chr4 0 190214555 Chr.4 187320 TS13 Temperature sensitivity complementation, ts13 7896
chr5 0 48800000 5p 108800 ASD1 Atrial septal defect 1 ASD1 431 max lod at D5S406 Atrial septal defect 1, 108800 (2), Autosomal dominant
chr5 0 4400000 5p15.33 613059 BCC3 Basal cell carcinoma, susceptibility to, 3 100307120 {Basal cell carcinoma, susceptibility to, 3}, 613059 (2)
chr5 0 4400000 5p15.33 613033 GLM8 Glioma susceptibility 8 100316847 associated with rs2736100 {Glioma susceptibility 8}, 613033 (2)
chr5 0 4400000 5p15.33 612571 LNCR3 Lung cancer susceptibility 3 100271687 associated with rs402710 and rs2736100 {Lung cancer susceptibility 3}, 612571 (2)
chr5 0 42500000 5p15.33-p13.1 608850 MCDR3 Macular dystrophy, retinal, 3 MCDR3 317668 maximum lod at D5S630 Macular dystrophy, retinal, 3, 608850 (2), Autosomal dominant
chr5 0 48800000 5p 601888 MHS6 Malignant hyperthermia susceptibility 6 MHS6 4266 {Malignant hyperthermia susceptibility 6}, 601888 (2)
chr5 0 15000000 5p15.33-p15.2 612554 MYP16 Myopia 16 MYP16 100270641 max lod at D5S2505 Myopia 16, 612554 (2)
chr5 0 18400000 5p15 613637 TST2 Tuberculin skin test reactivity quantitative trait locus 100526823 max lod at 16:2.70Mb [Tuberculin skin test reactivity QTL], 613637 (2)
chr5 218222 264815 5p15 5p15.33 600857 SDHA, SDH1, SDHF, CMD1GG, PGL5 Succinate dehydrogenase complex, subunit A, flavoprotein SDHA 6389 ENSG00000073578 copy on 3q29 Cardiomyopathy, dilated, 1GG, 613642 (3); Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial respiratory chain complex II deficiency, 252011 (3), Autosomal recessive; Paragangliomas 5, 614165 (3), Autosomal dominant Sdha (MGI:1914195)
chr5 271620 314973 5p15.33 5p15.33 601057 PDCD6, ALG2 Programmed cell death 6 PDCD6 10016 ENSG00000249915 Pdcd6 (MGI:109283)
chr5 304175 438290 5p15.3 5p15.33 606517 AHRR, KIAA1234 Arylhydrocarbon receptor repressor AHRR 57491 ENSG00000063438 Ahrr (MGI:1333776)
chr5 443218 467295 5p15.33 5p15.33 608186 EXOC3, SEC6 Exocyst complex component 3 EXOC3 11336 ENSG00000180104 Exoc3 (MGI:2443972)
chr5 471985 524433 5p15.3 5p15.33 182307 SLC9A3, NHE3, DIAR8 Solute carrier family 9 (sodium/hydrogen exchanger), member 3 SLC9A3 6550 ENSG00000066230 pseudogene on chr.10 Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive Slc9a3 (MGI:105064)
chr5 612289 663499 5p15.33 5p15.33 616475 CEP72, KIAA1519 Centrosomal protein, 72kD CEP72 55722 ENSG00000112877 Cep72 (MGI:1921720)
chr5 659861 700726 5p15.3 5p15.33 608773 TPPP, P25, P24 Tubulin polymerization-promoting protein TPPP 11076 ENSG00000171368 Tppp (MGI:1920198)
chr5 892853 919347 5p15.33 5p15.33 604507 TRIP13, 16E1BP, MVA3 Thyroid hormone receptor interactor 13 TRIP13 9319 ENSG00000071539 Mosaic variegated aneuploidy syndrome 3, 617598 (3), Autosomal recessive Trip13 (MGI:1916966)
chr5 1008844 1038811 5p15.3 5p15.33 607852 NKD2 Naked cuticle, Drosophila, homolog of, 2 NKD2 85409 ENSG00000145506 Nkd2 (MGI:1919543)
chr5 1050373 1155886 5p15.3 5p15.33 604879 SLC12A7, KCC4 Solute carrier family 12 (potassium/chloride transporters), member 7 SLC12A7 10723 ENSG00000113504 Slc12a7 (MGI:1342283)
chr5 1201594 1225116 5p15.33 5p15.33 608893 SLC6A19, HND Solute carrier family 6 (neurotransmitter transporter), member 19 SLC6A19 340024 ENSG00000174358 Hartnup disorder, 234500 (3), Autosomal recessive; Hyperglycinuria, 138500 (3), Autosomal dominant; Iminoglycinuria, digenic, 242600 (3), Autosomal recessive, Digenic recessive Slc6a19 (MGI:1921588)
chr5 1225354 1246188 5p15.33 5p15.33 610300 SLC6A18, XTRP2 Solute carrier family 6 (neurotransmitter transporter), member 18 SLC6A18 348932 ENSG00000164363 Slc6a18 (MGI:1336892)
chr5 1253166 1295046 5p15.33 5p15.33 187270 TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9 Telomerase reverse transcriptase TERT 7015 ENSG00000164362 deleted in cri du chat {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3), Autosomal recessive, Autosomal dominant; {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3), Autosomal recessive, Autosomal dominant; {Leukemia, acute myeloid}, 601626 (3), Autosomal dominant; {Melanoma, cutaneous malignant, 9}, 615134 (3); {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3), Autosomal dominant Tert (MGI:1202709)
chr5 1317743 1345069 5p15.33 5p15.33 612585 CLPTM1L, CRR9 CLPTM1-like protein CLPTM1L 81037 ENSG00000049656 Clptm1l (MGI:2442892)
chr5 1392789 1445427 5p15.3 5p15.33 126455 SLC6A3, DAT1, PKDYS Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 SLC6A3 6531 ENSG00000142319 {Nicotine dependence, protection against}, 188890 (3); Parkinsonism-dystonia, infantile, 613135 (3), Autosomal recessive Slc6a3 (MGI:94862)
chr5 1461422 1523976 5p15.33 5p15.33 610472 AYTL2, LPCAT, LPCAT1 Acyltransferase-like 2 LPCAT1 79888 ENSG00000153395 Lpcat1 (MGI:2384812)
chr5 1798384 1801431 5p15.3 5p15.33 611842 MRPL36 Mitochondrial ribosomal protein L36 MRPL36 64979 ENSG00000171421 Mrpl36 (MGI:2137228)
chr5 1801381 1816050 5pter-p15.33 5p15.33 603848 NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kD NDUFS6 4726 ENSG00000145494 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Gm6415,Ndufs6 (MGI:107932,MGI:3648526)
chr5 1877426 1887178 5p15.3 5p15.33 606199 IRX4 Iroquois homeobox protein 4 IRX4 50805 ENSG00000113430 Irx4 (MGI:1355275)
chr5 2707929 2751654 5p15.3 5p15.33 606198 IRX2 Iroquois homeo box protein 2 IRX2 153572 ENSG00000170561 Irx2 (MGI:1197526)
chr5 2712590 2715236 5p15.33 5p15.33 615764 LSINCT5 Long stress-induced noncoding transcript 5 LSINCT5 101234261
chr5 2751939 2758575 5p15.33 5p15.33 610522 CEI Coordinated expression to IRXA2 C5orf38 153571 ENSG00000186493
chr5 3595854 3601402 5p15.3 5p15.33 606197 IRX1 Iroquois homeo box protein 1 IRX1 79192 ENSG00000170549 Irx1 (MGI:1197515)
chr5 5140329 5320303 5p15 5p15.32 607510 ADAMTS16 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 16 ADAMTS16 170690 ENSG00000145536 Adamts16 (MGI:2429637)
chr5 6300000 18400000 5p15.31-p15.1 613608 FAME3, FCMTE3 Epilepsy, myoclonic, familial adult, 3 100529229 between D5S580 and D5S2096 Epilepsy, myoclonic, familial adult, 3, 613608 (2), Autosomal dominant
chr5 6371925 6378525 5p15.31 5p15.31 612382 MED10, NUT2 Mediator complex subunit 10 MED10 84246 ENSG00000133398 Med10 (MGI:106331)
chr5 6437346 6496720 5p15.3 5p15.31 615832 UBE2QL1 Ubiquitin-conjugating enzyme E2Q family-like protein 1 UBE2QL1 134111 ENSG00000215218 Ube2ql1 (MGI:1924230)
chr5 6582135 6588499 5p15.31 5p15.31 616385 LINC01018, SRHC Long intergenic noncoding RNA 1018 LINC01018 255167
chr5 6599238 6633359 5p15.31 5p15.31 610916 NSUN2, TRM4, SAKI, MISU, MRT5 NOP2/SUN RNA methyltransferase family, member 2 NSUN2 54888 ENSG00000037474 Mental retardation, autosomal recessive 5, 611091 (3), Autosomal recessive Nsun2 (MGI:107252)
chr5 6633321 6669561 5p15 5p15.31 184753 SRD5A1 Steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) SRD5A1 6715 ENSG00000145545 pseudogene on X Srd5a1 (MGI:98400)
chr5 6713937 6757047 5p15 5p15.31 605198 POLS, TRF4, POLK Polymerase, DNA, sigma PAPD7 11044 ENSG00000112941 Papd7 (MGI:2682295)
chr5 7396229 7830080 5p15.3 5p15.31 103071 ADCY2 Adenylyl cyclase-2, brain ADCY2 108 ENSG00000078295 Adcy2 (MGI:99676)
chr5 7851185 7901123 5p15.3-p15.2 5p15.31 602568 MTRR Methionine synthase reductase MTRR 4552 ENSG00000124275 Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive Mtrr (MGI:1891037)
chr5 7859158 7869036 5p15.31 5p15.31 617530 FASTKD3 Fast kinase domains 3 FASTKD3 79072 ENSG00000124279 Fastkd3 (MGI:1916827)
chr5 9035025 9546120 5p15.2 5p15.31 609297 SEMA5A, SEMF Semaphorin 5a SEMA5A 9037 ENSG00000112902 Sema5a (MGI:107556)
chr5 9628996 9630350 5p15 5p15.31 604796 TRB7, T2R1 Taste receptor, family B, member 7 TAS2R1 50834 ENSG00000169777 Tas2r119 (MGI:2681253)
chr5 9900000 28900000 5p15.2-p14 606770 ADIPQTL2, CAQ5 Adiponectin, serum level of, QTL 2 171511 near D5S817 {Adiponectin, serum level of, QTL2}, 606770 (2)
chr5 9900000 23300000 5p15.2-p14.3 610213 ANIB4 Aneurysm, intracranial berry, 4 ANIB4 724058 max lod at D5S1954 Aneurysm, intracranial berry, 4, 610213 (2)
chr5 10249920 10266411 5p15.2 5p15.2 610150 CCT5, KIAA0098, CCTE chaperonin containing TCP1, subunit 5 (epsilon) CCT5 22948 ENSG00000150753 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3), Autosomal recessive Cct5 (MGI:107185)
chr5 10277594 10308055 5p15.2 5p15.2 613379 CMBL Carboxymethylenebutenolidase-like protein CMBL 134147 ENSG00000164237 Cmbl (MGI:1916824)
chr5 10353638 10440387 5p15.2 5p15.2 613297 MARCH6, TEB4, DOA10, KIAA0597 Membrane-associated RING-CH finger protein 6 MARCH6 10299 ENSG00000145495 March6 (MGI:2442773)
chr5 10441861 10482806 5p15.2 5p15.2 611756 ROPN1L, ASP ROPN1-like protein ROPN1L 83853 ENSG00000145491 Ropn1l (MGI:2182357)
chr5 10679229 10761274 5p15.2 5p15.2 600954 DAP Death-associated protein DAP 1611 ENSG00000112977 Dap (MGI:1918190)
chr5 10971839 11904066 5p15.2 5p15.2 604275 CTNND2, NPRAP Catenin, delta-2 CTNND2 1501 ENSG00000169862 Ctnnd2 (MGI:1195966)
chr5 12574856 12805182 5p15.2 5p15.2 617097 LINC01194, TAG Long intergenic noncoding RNA 1194 LINC01194 404663
chr5 13690327 14011828 5p15-p14 5p15.2 603335 DNAH5, HL1, PCD, CILD3 Dynein, axonemal, heavy chain 5 DNAH5 1767 ENSG00000039139 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) Dnah5 (MGI:107718)
chr5 14143349 14510203 5p15.1-p14 5p15.2 601893 TRIO, MRD44 Triple functional domain TRIO 7204 ENSG00000038382 Mental retardation, autosomal dominant 44, 617061 (3), Autosomal dominant Trio (MGI:1927230)
chr5 14660793 14716551 5p15.2 5p15.2 615712 OTULIN, FAM105B, GUM, AIPDS OTU deubiquitinase with linear linkage specificity OTULIN 90268 ENSG00000154124 Autoinflammation, panniculitis, and dermatosis syndrome, 617099 (3), Autosomal recessive Otulin (MGI:3577015)
chr5 14704799 14871784 5p15.2-p14.1 5p15.2 605145 ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD Ank, mouse, homolog of ANKH 56172 ENSG00000154122 Chondrocalcinosis 2, 118600 (3), Autosomal dominant; Craniometaphyseal dysplasia, 123000 (3), Autosomal dominant Ank (MGI:3045421)
chr5 15000000 33800000 5p15.1-p13.3 613969 MYP19 Myopia 19, autosomal dominant 100653370 highest lod at D5S419 Myopia 19, 613969 (2), Autosomal dominant
chr5 15000000 18400000 5p15.1 608098 PVNH3 Periventricular nodular heterotopia 3 100302681 Periventricular nodular heterotopia 3, 608098 (2)
chr5 15500195 15939795 5p15.1 5p15.1 605656 FBXL7, FBL7 F-box and leucine-rich repeat protein 7 FBXL7 23194 ENSG00000183580 Fbxl7 (MGI:3052506)
chr5 16067305 16179787 5p15.1 5p15.1 613338 MARCH11 Membrane-associated RING-CH finger protein 11 MARCH11 441061 ENSG00000183654 March11 (MGI:3608327)
chr5 16451518 16465784 5p15.1 5p15.1 608694 ZNF622, ZPR9 Zinc finger protein 622 ZNF622 90441 ENSG00000173545 Zfp622 (MGI:1289282)
chr5 16473037 16617095 5p15.1 5p15.1 613114 FAM134B, HSAN2B Family with sequence similarity 134, member B RETREG1 54463 ENSG00000154153 Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3), Autosomal recessive Retreg1 (MGI:1913520)
chr5 16661906 16936275 5p15.1-p14.3 5p15.1 601481 MYO10 Myosin X MYO10 4651 ENSG00000145555 Myo10 (MGI:107716)
chr5 17216822 17276844 5p15.1-p14 5p15.1 605940 BASP1, CAP23, NAP22 Brain-abundant signal protein, membrane-attached, 1 BASP1 10409 ENSG00000176788 Basp1 (MGI:1917600)
chr5 18400000 28900000 5p14 157960 MLVI2 Moloney leukemia virus integration site-2 4309
chr5 19471295 20575885 5p15.2-p15.1 5p14.3 603019 CDH18, CDH14 Cadherin 18 CDH18 1016 ENSG00000145526 Cdh18 (MGI:1344366)
chr5 21750865 22853621 5p14-p13 5p14.3 600562 CDH12, CDHB Cadherin-12 (N-cadherin 2) CDH12 1010 ENSG00000154162 pseudogene on 5q13 in SMA region Cdh12 (MGI:109503)
chr5 22142351 22152271 5p14 5p14.3 176793 PMCHL1 Pro-melanin-concentrating hormone-like 1 PMCHL1 5369
chr5 23507608 23528596 5p14.2 5p14.2 609760 PRDM9 PR domain-containing protein 9 PRDM9 56979 ENSG00000164256 Prdm9 (MGI:2384854)
chr5 24487099 24644977 5p14-p13 5p14.2-p14.1 604555 CDH10 Cadherin 10 CDH10 1008 ENSG00000040731 Cdh10 (MGI:107436)
chr5 26880599 27038581 5p14 5p14.1 609974 CDH9 Cadherin 9 CDH9 1007 ENSG00000113100 Cdh9 (MGI:107433)
chr5 28900000 42500000 5p13 608906 ADHD4 Attention deficit-hyperactivity disorder, susceptibility to, 4 450090 {Attention deficit-hyperactivity disorder}, 143465 (2), Autosomal dominant
chr5 28900000 38400000 5p13.3-p13.2 607004 BDA1B Brachydactyly, type A1, locus B 246260 Brachydactyly, type A1, B, 607004 (2), Autosomal dominant
chr5 28900000 42500000 5p13 613174 DUP5p13, C5DUPp13 Chromosome 5p13 duplication syndrome Chromosome 5p13 duplication syndrome, 613174 (4), Isolated cases
chr5 28900000 67400000 5p13-q12 610262 HYT6 Hypertension, essential, susceptibility to, 6 100188808 {Hypertension, essential, susceptibility to, 6}, 145500 (2), Multifactorial
chr5 28900000 42500000 5p13 610170 KYPSC1 Kyphoscoliosis 1 780921 Kyphoscoliosis 1, 610170 (2)
chr5 31193654 31329145 5p15.1-p14 5p13.3 603007 CDH6 Cadherin 6 CDH6 1004 ENSG00000113361 Cdh6 (MGI:107435)
chr5 31400493 31532174 5p14-p13 5p13.3 608828 RNASEN, DROSHA, RANSE3L, RN3 Ribonuclease III, nuclear DROSHA 29102 ENSG00000113360 Drosha (MGI:1261425)
chr5 31639387 32110931 5p13.2 5p13.3 610697 PDZD2, PAPIN, PIN1, AIPC PDZ domain containing 2 PDZD2 23037 ENSG00000133401 Pdzd2 (MGI:1922394)
chr5 32124710 32174318 5p13.3 5p13.3 612207 GOLPH3, GPP34, MIDAS Golgi phosphoprotein 3 GOLPH3 64083 ENSG00000113384 Golph3 (MGI:1913879)
chr5 32227006 32313007 5p13.3 5p13.3 606501 MTMR12, 3PAP, KIAA1682 Myotubularin-related protein 12 MTMR12 54545 ENSG00000150712 Mtmr12 (MGI:2443034)
chr5 32354345 32444760 5p13.3 5p13.3 615635 ZFR Zinc finger RNA-binding protein ZFR 51663 ENSG00000056097 Zfr (MGI:1341890)
chr5 32531777 32604078 5p13.3 5p13.3 600503 SUB1, PC4, p15 Sub1, S. cerevisiae, homolog of SUB1 10923 ENSG00000113387 Sub1 (MGI:104811)
chr5 32689075 32791723 5p14-p12 5p13.3 108962 NPR3, ANPRC Natriuretic peptide receptor C NPR3 4883 ENSG00000113389 ?Hypertension, salt-resistant (1) Npr3 (MGI:97373)
chr5 33440695 33468090 5p13-cen 5p13.3 187790 TARS Threonyl-tRNA synthetase TARS 6897 ENSG00000113407 linked to LARS Tars (MGI:106314)
chr5 33523534 33892191 5q35 5p13.3-p13.2 606184 ADAMTS12 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 12 ADAMTS12 81792 ENSG00000151388 Adamts12 (MGI:2146046)
chr5 33800000 38400000 5p13.2 612595 MS3 Multiple sclerosis, susceptibility to, 3 100271695 associated with rs6897932 {Multiple sclerosis, susceptibility to, 3}, 612595 (2)
chr5 33936385 33938917 5p15.1-p14 5p13.2 609445 RXFP3, RLN3R1, SALPR, GPCR135 Relaxin/insulin-like family peptide receptor 3 RXFP3 51289 ENSG00000182631 Rxfp3 (MGI:2441827)
chr5 33944615 33984674 5p13.3 5p13.2 606202 SLC45A2, MATP, AIM1, SHEP5, OCA4 Solute carrier family 45, member 2 SLC45A2 51151 ENSG00000164175 Albinism, oculocutaneous, type IV, 606574 (3); [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3), Autosomal recessive Slc45a2 (MGI:2153040)
chr5 33986985 34008114 5p13.2-q11.1 5p13.2 604489 AMACR, CBAS4, AMACRD Alpha-methylacyl-CoA racemase AMACR 23600 ENSG00000242110 Alpha-methylacyl-CoA racemase deficiency, 614307 (3), Autosomal recessive; Bile acid synthesis defect, congenital, 4, 214950 (3), Autosomal recessive Amacr (MGI:1098273)
chr5 34017857 34244723 5p13 5p13.2 612045 C1ATNF3, CTRP3, CORS26 C1q- and tumor necrosis factor-related protein 3 C1QTNF3 114899 ENSG00000082196 C1qtnf3 (MGI:1932136)
chr5 34656302 34832611 5p13.3-p13.2 5p13.2 606586 RAI14, KIAA1334 Retinoic acid-induced 14 RAI14 26064 ENSG00000039560 Rai14 (MGI:1922896)
chr5 34839163 34900510 5p13.2 5p13.2 616344 TTC23L Tetratricopeptide repeat domain-containing protein 23-like TTC23L 153657 ENSG00000205838 Ttc23l (MGI:1923027)
chr5 34905259 34915674 5p13.3-p13.2 5p13.2 603153 RAD1 RAD1, S. pombe, homolog of RAD1 5810 ENSG00000113456 Rad1 (MGI:1316678)
chr5 34929539 34958963 5p13.2 5p13.2 617048 DNAJC21, DNAJA5, BMFS3 DNAJ/HSP40 homolog, subfamily C, member 21 DNAJC21 134218 ENSG00000168724 Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive Dnajc21 (MGI:1925371)
chr5 34998098 35048187 5p13 5p13.2 612471 AGXT2, AGT2, BAIBA Alanine-glyoxylate aminotransferase 2 AGXT2 64902 ENSG00000113492 [Beta-aminoisobutyric acid, urinary excretion of], 210100 (3), Autosomal recessive Agxt2 (MGI:2146052)
chr5 35048755 35230723 5p13.2 5p13.2 176761 PRLR, MFAB, HPRL Prolactin receptor PRLR 5618 ENSG00000113494 mutation identified in 1 family with HPRL ?Hyperprolactinemia, 615555 (3), Autosomal dominant; Multiple fibroadenomas of the breast, 615554 (3), Autosomal dominant Prlr (MGI:97763)
chr5 35617366 35814610 5p13.2 5p13.2 610172 SPEF2, KPL2, KIAA1770 Sperm flagellar 2 SPEF2 79925 ENSG00000152582 Spef2 (MGI:2443727)
chr5 35856848 35879602 5p13 5p13.2 146661 IL7R, IL7RA, CD127 Interleukin-7 receptor IL7R 3575 ENSG00000168685 Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3), Autosomal recessive Il7r (MGI:96562)
chr5 35953088 36001054 5p13.2 5p13.2 616383 UGT3A1 Uridine diphosphate glucuronosyltransferase 3 family, member A1 UGT3A1 133688 ENSG00000145626 Ugt3a1,Ugt3a2 (MGI:2145969,MGI:2146055)
chr5 36035016 36071357 5p13.2 5p13.2 616384 UGT3A2 Uridine diphosphate glucuronosyltransferase 3 family, member A2 UGT3A2 167127 ENSG00000168671
chr5 36152042 36184040 5p13 5p13.2 601436 SKP2 S-phase kinase-associated protein 2 (p45) SKP2 6502 ENSG00000145604 Skp2 (MGI:1351663)
chr5 36192588 36242278 5p13.2 5p13.2 615787 NADK2, C5orf33, DECRD NAD kinase 2, mitochondrial NADK2 133686 ENSG00000152620 mutation identified in 1 DECRD family ?2,4-dienoyl-CoA reductase deficiency, 616034 (3), Autosomal recessive Nadk2 (MGI:1915896)
chr5 36246918 36301908 6p13.2 5p13.2 616391 RANBP3L RAN-binding protein 3-like RANBP3L 202151 ENSG00000164188 Ranbp3l (MGI:2444654)
chr5 36606354 36688333 5p13 5p13.2 600111 SLC1A3, EAAT1, EA6 Solute carrier family 1 (glial high affinity glutamate transporter), member 3 SLC1A3 6507 ENSG00000079215 Episodic ataxia, type 6, 612656 (3), Autosomal dominant Slc1a3 (MGI:99917)
chr5 36876758 37065818 5p13.1 5p13.2 608667 NIPBL, CDLS1 Nipped-B-like (delangin) NIPBL 25836 ENSG00000164190 Cornelia de Lange syndrome 1, 122470 (3), Autosomal dominant Nipbl (MGI:1913976)
chr5 37063927 37249498 5p13.2 5p13.2 614571 C5orf42, JBTS17, OFD6 Chromosome 5 open reading frame 42 CPLANE1 65250 ENSG00000197603 Joubert syndrome 17, 614615 (3), Autosomal recessive; Orofaciodigital syndrome VI, 277170 (3), Autosomal recessive 2410089E03Rik (MGI:1920942)
chr5 37291632 37371125 5p13 5p13.2 606694 NUP155, KIAA0791, ATFB15 Nucleoporin, 155kD NUP155 9631 ENSG00000113569 mutation identified in 1 ATFB15 family ?Atrial fibrillation 15, 615770 (3), Autosomal recessive Nup155 (MGI:2181182)
chr5 37379259 37752671 5p13.2 5p13.2 617233 WDR70 WD repeat-containing protein 70 WDR70 55100 ENSG00000082068 Wdr70 (MGI:1921020)
chr5 37812676 37840043 5p13.1-p12 5p13.2 600837 GDNF, HSCR3 Glial cell line derived neurotrophic factor GDNF 2668 ENSG00000168621 Central hypoventilation syndrome, 209880 (3), Autosomal dominant; {Hirschsprung disease, susceptibility to, 3}, 613711 (3), Autosomal dominant; {Pheochromocytoma, modifier of}, 171300 (3), Autosomal dominant Gdnf (MGI:107430)
chr5 38258408 38465479 5p13.2-p13.1 5p13.2-p13.1 617683 EGFLAM, PIKA, AGRINL EGF-like, fibronectin type III, and laminin G domains-containing protein EGFLAM 133584 ENSG00000164318 Egflam (MGI:2146149)
chr5 38400000 42500000 5p13.1 612262 IBD18 Inflammatory bowel disease 18 100190931 associated with rs1373692 {Inflammatory bowel disease 18}, 612262 (2)
chr5 38474962 38606289 5p13.1 5p13.1 151443 LIFR, STWS, SWS, SJS2 Leukemia inhibitory factor receptor LIFR 3977 ENSG00000113594 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3), Autosomal recessive Lifr (MGI:96788)
chr5 38845857 38945578 5p13.1 5p13.1 601743 OSMR, OSMRB, PLCA1 Oncostatin M receptor OSMR 9180 ENSG00000145623 Amyloidosis, primary localized cutaneous, 1, 105250 (3), Autosomal dominant Osmr (MGI:1330819)
chr5 39105251 39274499 5p13.1 5p13.1 602731 FYB, SLAP130, ADAP, THC3 FYN-binding protein FYB1 2533 ENSG00000082074 Thrombocytopenia 3, 273900 (3), Autosomal recessive Fyb (MGI:1346327)
chr5 39284143 39364559 5p13 5p13.1 120940 C9, C9D, ARMD15 Complement component-9 C9 735 ENSG00000113600 C9 deficiency, 613825 (3); {Macular degeneration, age-related, 15, susceptibility to}, 615591 (3) C9 (MGI:1098282)
chr5 39371673 39425232 5p13 5p13.1 601236 DAB2, DOC2 Disabled, Drosophila, homolog of, 2 (differentially expressed in ovarian cancer-2) DAB2 1601 ENSG00000153071 Dab2 (MGI:109175)
chr5 40679929 40740935 5p13.1 5p13.1 601586 PTGER4 Prostaglandin E receptor 4, EP4 subtype PTGER4 5734 ENSG00000171522 Ptger4 (MGI:104311)
chr5 40759378 40798194 5p12 5p13.1 602739 PRKAA1 Protein kinase, AMP-activated, catalytic, alpha-1 PRKAA1 5562 ENSG00000132356 Prkaa1 (MGI:2145955)
chr5 40831327 40835284 5p 5p13.1 604181 RPL37 Ribosomal protein L37 RPL37 6167 ENSG00000145592 Rpl37 (MGI:1914531)
chr5 40841196 40855353 5p13.1-p12 5p13.1 609986 CARD6, CINCIN1 Caspase recruitment domain-containing protein 6 CARD6 84674 ENSG00000132357 Card6 (MGI:3032959)
chr5 40909251 40984639 5p13 5p13.1 217070 C7 Complement component-7 C7 730 ENSG00000112936 C7 deficiency, 610102 (3) C7 (MGI:88235)
chr5 41142145 41261485 5p13 5p13.1 217050 C6 Complement component-6 C6 729 ENSG00000039537 C6 deficiency, 612446 (3); Combined C6/C7 deficiency (3) C6 (MGI:88233)
chr5 41306945 41510627 5p13.1 5p13.1 617016 PLCXD3 Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 3 PLCXD3 345557 ENSG00000182836 Plcxd3 (MGI:2442605)
chr5 41730064 41870688 5p13 5p13.1 601424 OXCT1, OXCT, SCOT 3-oxoacid CoA transferase 1 OXCT1 5019 ENSG00000083720 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3) Oxct1 (MGI:1914291)
chr5 41918060 42040229 5p12 5p13.1 609090 FBXO4, FBX4 F-box only protein 4 FBXO4 26272 ENSG00000151876 Fbxo4 (MGI:2146220)
chr5 42423774 42721877 5p13-p12 5p13-p12 600946 GHR, GHIP Growth hormone receptor GHR 2690 ENSG00000112964 Growth hormone insensitivity, partial, 604271 (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3), Autosomal dominant; Increased responsiveness to growth hormone (3); Laron dwarfism, 262500 (3), Autosomal recessive Ghr (MGI:95708)
chr5 42799879 42812075 5p11 5p12 601484 SELENOP, SEPP1 Selenoprotein P SELENOP 6414 ENSG00000250722 Selenop (MGI:894288)
chr5 43039079 43040344 5p12 5p12 611296 ANXA2R, C5orf39, AX2R, AXIIR Annexin A2 receptor ANXA2R 389289 ENSG00000177721
chr5 43120842 43176323 5p12-p11 5p12 604073 ZNF131 Zinc finger protein -31 ZNF131 7690 ENSG00000172262 Zfp131 (MGI:1919715)
chr5 43287469 43313511 5p14-p13 5p12 142940 HMGCS1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 HMGCS1 3157 ENSG00000112972 like HMGCR, regulated transcriptionally by steroid Hmgcs1 (MGI:107592)
chr5 43356971 43412390 5p12 5p12 605240 CCL28 Chemokine, C-C motif, ligand 28 CCL28 56477 ENSG00000151882 Ccl28 (MGI:1861731)
chr5 43526266 43557418 5p12 5p12 605184 PAIP1 Polyadenylate-binding protein-interacting protein 1 PAIP1 10605 ENSG00000172239 Paip1 (MGI:2384993)
chr5 43601091 43705565 5p12 5p12 607878 NNT, GCCD4 Nicotinamide nucleotide transhydrogenase NNT 23530 ENSG00000112992 Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3), Autosomal recessive
chr5 44301654 44389705 5p13-p12 5p12 602115 FGF10 Fibroblast growth factor-10 FGF10 2255 ENSG00000070193 Aplasia of lacrimal and salivary glands, 180920 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant Fgf10 (MGI:1099809)
chr5 44808924 44815513 5p12-q11 5p12 611991 MRPS30 Mitochondrial ribosomal protein S30 MRPS30 10884 ENSG00000112996 Mrps30 (MGI:1926237)
chr5 45254949 45696117 5p12 5p12 602780 HCN1, BCNG1, EIEE24 Hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 HCN1 348980 ENSG00000164588 Epileptic encephalopathy, early infantile, 24, 615871 (3), Autosomal dominant Hcn1 (MGI:1096392)
chr5 48800000 181538259 5q 609657 BSZQTL2 Bone size quantitative trait locus 2 100188794 {Bone size QTL}, 609657 (2)
chr5 50396191 50443298 5q11.1 5q11.1 615669 EMB, GP70 Embigin EMB 133418 ENSG00000170571 Emb (MGI:95321)
chr5 51383123 51394729 5q 5q11.1 600366 ISL1 ISL1 transcription factor, LIM/homeodomain (islet-1) ISL1 3670 ENSG00000016082 between D5S395 and D5S407; proximal 5q Isl1 (MGI:101791)
chr5 52787939 52802616 5q11.2 5q11.2 605757 PELO Pelota, Drosophila, homolog of PELO 53918 ENSG00000152684 Pelo (MGI:2145154)
chr5 52788301 52953654 5q11.2 5q11.2 192968 ITGA1, VLA1 Integrin, alpha-1 ITGA1 3672 ENSG00000213949 Itga1 (MGI:96599)
chr5 52989325 53094778 5q23-q31 5q11.2 192974 ITGA2, CD49B, BR, BDPLT9 Integrin, alpha-2 (CD49B; alpha-2 subunit of VLA-2 receptor; platelet antigen Br) ITGA2 3673 ENSG00000164171 ?Glycoprotein Ia deficiency, 614200 (1), Autosomal dominant Itga2 (MGI:96600)
chr5 53095678 53109771 5q11 5q11.2 603708 MOCS2, MPTS, MOCODB Molybdenum cofactor synthesis-2 MOCS2 4338 ENSG00000164172 Molybdenum cofactor deficiency B, 252160 (3), Autosomal recessive Mocs2 (MGI:1336894)
chr5 53480337 53487133 5q11.2 5q11.2 136470 FST, FS Follistatin FST 10468 ENSG00000134363 Fst (MGI:95586)
chr5 53560609 53683340 5q11.1 5q11.2 602694 NDUFS4, AQDQ NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kD (NADH-coenzyme Q reductase) NDUFS4 4724 ENSG00000164258 Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufs4 (MGI:1343135)
chr5 54455600 54456383 5q11.2 5q11.2 604624 HSPB3, HSPL27, HMN2C, DHMN2C Heat-shock 27kD protein 3 HSPB3 8988 ENSG00000169271 mutation identified in 1 HMN2C family ?Neuronopathy, distal hereditary motor, type IIC, 613376 (3), Autosomal dominant Hspb3 (MGI:1928479)
chr5 54977866 54985585 5q11.2 5q11.2 601521 ESM1 Endothelial cell-specific molecule 1 ESM1 11082 ENSG00000164283 Esm1 (MGI:1918940)
chr5 55024278 55034131 5q11.2 5q11.2 600784 GZMK, TRYP2 Granzyme K GZMK 3003 ENSG00000113088 Gzmk (MGI:1298232)
chr5 55102645 55110251 5q11-q12 5q11.2 140050 GZMA, CTLA3, HFSP Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease) GZMA 3001 ENSG00000145649 Gzma (MGI:109266)
chr5 55160117 55167300 5q11.2 5q11.2 617172 GPX8 Glutathione peroxidase 8 GPX8 493869 ENSG00000164294 Gpx8 (MGI:1916840)
chr5 55170531 55170621 5q11.2 5q11.2 613131 MIR449A, MIRN449A Micro RNA 449A MIR449A 554213
chr5 55170645 55170741 5q11.2 5q11.2 613132 MIR449B, MIRN449B Micro RNA 449B MIR449B 693123
chr5 55218790 55227314 5q11.2 5q11.2 614086 IDAS IDAS MCIDAS 345643 ENSG00000234602 Mcidas (MGI:3648807)
chr5 55231151 55233716 5q11.2 5q11.2 607752 CCNO, UNG2, CILD29 Cyclin O CCNO 10309 ENSG00000152669 Ciliary dyskinesia, primary, 29, 615872 (3), Autosomal recessive Ccno (MGI:2145534)
chr5 55256054 55307721 5q11.2 5q11.2 612720 DHX29 DEAH (Asp-Glu-Ala-His) box polypeptide 29 DHX29 54505 ENSG00000067248 Dhx29 (MGI:2145374)
chr5 55424841 55535077 5q11.2 5q11.2 607124 PLPP1, PPAP2A Phopshplipid phosphatase 1 PLPP1 8611 ENSG00000067113
chr5 55625844 55712342 5q11.2 5q11.2 616203 SLC38A9, URLC11 Solute carrier family 38, member 9 SLC38A9 153129 ENSG00000177058 Slc38a9 (MGI:1918839)
chr5 55737993 55817145 5q11.2-q12 5q11.2 605281 DDX4, VASA DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4 (vasa, Drosophila, homolog of) DDX4 54514 ENSG00000152670 Ddx4 (MGI:102670)
chr5 55840333 55922853 5q11.2 5q11.2 609510 IL31RA, GLMR, GPL, PLCA2 Interleukin 31 receptor A IL31RA 133396 ENSG00000164509 mutation identified in 1 PLCA2 patient ?Amyloidosis, primary localized cutaneous, 2, 613955 (3), Autosomal dominant Il31ra (MGI:2180511)
chr5 55935094 55994992 5q11 5q11.2 600694 IL6ST Interleukin-6 signal transducer (gp130, oncostatin M receptor) IL6ST 3572 ENSG00000134352 Il6st (MGI:96560)
chr5 56099679 56233358 5q11 5q11.2 615189 ANKRD55 Ankyrin repeat domain-containing protein 55 ANKRD55 79722 ENSG00000164512 Ankrd55 (MGI:1924568)
chr5 56815072 56896151 5q11.2 5q11.2 600982 MAP3K1, MEKK1, MEKK, SRXY6 Mitogen-activated protein kinase kinase kinase 1 MAP3K1 4214 ENSG00000095015 46XY sex reversal 6, 613762 (3), Autosomal dominant Map3k1 (MGI:1346872)
chr5 57173841 57264678 5q11.2 5q11.2 608412 GPBP1, GPBP GC-rich promoter-binding protein 1 GPBP1 65056 ENSG00000062194 Gpbp1 (MGI:1920524)
chr5 57480015 57482808 5q11.2 5q11.2 614835 ACTBL2 Actin, beta-like, 2 ACTBL2 345651 ENSG00000169067 Actbl2 (MGI:2444552)
chr5 58453981 58460138 5q12-q13 5q11.2 607023 PLK2, SNK Polo-like kinase 2 PLK2 10769 ENSG00000145632 Plk2 (MGI:1099790)
chr5 58582187 58859393 5q13 5q11.2 612829 RAB3C Ras-associated protein RAB3C RAB3C 115827 ENSG00000152932 Rab3c (MGI:1914545)
chr5 58969037 60524328 5q12 5q11.2-q12.1 600129 PDE4D, DPDE3, STRK1, ACRDYS2 Phosphodiesterase-4D, cAMP-specific (dunce, Drosophila, homolog of, phosphodiesterase-E3) PDE4D 5144 ENSG00000113448 Acrodysostosis 2, with or without hormone resistance, 614613 (3), Autosomal dominant; {Stroke, susceptibility to, 1}, 606799 (3)
chr5 59600000 67400000 5q12 615668 DEL5q12, C5DELq12 Chromosome 5q12 deletion syndrome Chromosome 5q12 deletion syndrome, 615668 (4), Autosomal dominant
chr5 59600000 93000000 5q12-q14 611364 EJM4 Myoclonic epilepsy, juvenile, 4 100126594 max lod at D5S459 Myoclonic epilepsy, juvenile, 4, 611364 (2), Autosomal dominant
chr5 60487712 60547656 5q12 5q12.1 604991 PART1 Prostate androgen-regulated transcript 1 PART1 25859
chr5 60596911 60700165 5q12.1 5q12.1 616073 DEPDC1B DEP domain-containing protein 1B DEPDC1B 55789 ENSG00000035499 Depdc1b (MGI:2145425)
chr5 60751788 60844291 5q12.1 5q12.1 614451 ELOVL7 Elongation of very long chain fatty acids-like 6 ELOVL7 79993 ENSG00000164181 Elovl7 (MGI:1921809)
chr5 60873831 60945077 5q12 5q12.1 609412 ERCC8, CKN1, CSA, UVSS2 Excision repair cross-complementing rodent repair deficiency, complementation group 8 ERCC8 1161 ENSG00000049167 Cockayne syndrome, type A, 216400 (3), Autosomal recessive; UV-sensitive syndrome 2, 614621 (3), Autosomal recessive Ercc8 (MGI:1919241)
chr5 60945128 61153036 5q12.1 5q12.1 609653 NDUFAF2, NDUFA12L, MMTN, B17.2L NADH dehydrogenase 1 alpha subcomplex, assembly factor 2 NDUFAF2 91942 ENSG00000164182 pseudogene on chr.2 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufaf2 (MGI:1922847)
chr5 61332272 61546171 5q12.1 5q12.1 615951 ZSWIM6, KIAA1577, AFND, NEDMAGA Zinc finger SWIM domain-containing protein 6 ZSWIM6 57688 ENSG00000130449 Acromelic frontonasal dysostosis, 603671 (3), Autosomal dominant; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3), Autosomal dominant Zswim6 (MGI:1914513)
chr5 62306161 62387183 5q12.1 5q12.1 602591 KIF2A, CDCBM3 Kinesin, heavy chain, 2 KIF2A 3796 ENSG00000068796 Cortical dysplasia, complex, with other brain malformations 3, 615411 (3), Autosomal dominant Kif2a (MGI:108390)
chr5 62387952 62403959 5q12.1 5q12.1 612499 DIMT1L, DIM1, HUSSY5 Dimethyladenosine transferase 1-like DIMT1 27292 ENSG00000086189 previously assigned to 8p12 Dimt1 (MGI:1913504)
chr5 62412745 62628588 5q12.1 5q12.1 610889 IPO11, RANBP11, SLRN Importin 11 IPO11 51194 ENSG00000086200 Ipo11 (MGI:2442377)
chr5 63960047 63962291 5q11.2-q13 5q12.3 109760 HTR1A, ADRB2RL1, PFMCD 5-hydroxytryptamine (serotonin) receptor-1A HTR1A 3350 ENSG00000178394 Periodic fever, menstrual cycle dependent, 614674 (3), Autosomal dominant Htr1a (MGI:96273)
chr5 64165310 64372878 5q12.3 5q12.3 616015 RNF180, RINES RING finger protein 180 RNF180 285671 ENSG00000164197 Rnf180 (MGI:1919066)
chr5 64505946 64612329 5q12.3 5q12.3 610890 RGS7BP, R7BP Regulator of G protein signaling 7-binding protein RGS7BP 401190 ENSG00000186479 Rgs7bp (MGI:106334)
chr5 64768917 65018762 5q12.3 5q12.3 617170 CWC27, SDCCAG10, RPSKA CWC27 spliceosome-associated protein, X. cerevisiae, homolog of CWC27 10283 ENSG00000153015 Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive Cwc27 (MGI:1914535)
chr5 65148735 65482662 5q12 5q12.3 605008 ADAMTS6 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 6 ADAMTS6 11174 ENSG00000049192 Adamts6 (MGI:1347348)
chr5 65488918 65563193 5p15.2-q12.3 5q12.3 611502 CEMPK, SOLT Centromeric protein K CENPK 64105 ENSG00000123219 Cenpk (MGI:1926210)
chr5 65589679 65624359 5q12.3 5q12.3 601747 TRIM23, ARD1 Tripartite motif-containing protein 23 TRIM23 373 ENSG00000113595 Trim23 (MGI:1933161)
chr5 65722195 65829282 5q12.3 5q12.3 611530 NLN, KIAA1226, AGTBP Neurolysin NLN 57486 ENSG00000123213 Nln (MGI:1923055)
chr5 65926553 66081022 5q12 5q12.3 606944 ERBB2IP, ERBIN ERBB2 interacting protein ERBIN 55914 ENSG00000112851 Erbin (MGI:1890169)
chr5 66144217 66183615 5q11.2-q12.1 5q12.3 609268 SREK1, SFRS12, SRRp508 Splicing regulatory glutamine/lysine-rich protein 1 SREK1 140890 ENSG00000153914 Srek1 (MGI:2145245)
chr5 67182274 67196788 5q12 5q12.3 602226 CD180, LY64, RP105 CD180 antigen CD180 4064 ENSG00000134061 Cd180 (MGI:1194924)
chr5 67400000 93000000 5q13-q14 607087 AAT2, FAA2 Aortic aneurysm, familial thoracic 2 252843 Aortic aneurysm, familial thoracic 2, 607087 (2)
chr5 67400000 115900000 5q13-q22 605544 GINGF2, GGF2, HGF2 Fibromatosis, gingival, 2 GINGF2 64644 formerly GINGF2 used for a locus on 2p16-p13 Fibromatosis, gingival, 2, 605544 (2)
chr5 67400000 77600000 5q13 612306 TSHQTL1 Thyroid-stimulating hormone level QTL 1 100190789 associated with rs4704397 [Thyroid-stimulating hormone level QTL 1], 612306 (2)
chr5 68215736 68301820 5q13 5q13.1 171833 PIK3R1, GRB1, AGM7, SHORT, IMD36 Phosphatidylinositol 3-kinase, regulatory, 1 PIK3R1 5295 ENSG00000145675 mutation identified in 1 AGM7 family ?Agammaglobulinemia 7, autosomal recessive, 615214 (3), Autosomal recessive; Immunodeficiency 36, 616005 (3), Autosomal dominant; SHORT syndrome, 269880 (3), Autosomal dominant Pik3r1 (MGI:97583)
chr5 69093948 69131071 5q11.2 5q13.1-q13.2 607819 SLC30A5, ZNT5, ZTL1 Solute carrier family 30 (zinc transporter), member 5 SLC30A5 64924 ENSG00000145740 Slc30a5 (MGI:1916298)
chr5 69167009 69178244 5q12 5q13.2 123836 CCNB1 Cyclin B1 CCNB1 891 ENSG00000134057 Ccnb1,Ccnb1-ps (MGI:88302,MGI:3648694)
chr5 69189547 69210356 5q13.2 5q13.2 605607 CENPH Centromeric protein H CENPH 64946 ENSG00000153044 Cenph (MGI:1349448)
chr5 69217745 69230157 5q12.1 5q13.2 611996 MRPS36 Mitochondrial ribosomal protein S36 MRPS36 92259 ENSG00000134056 6 pseudogenes Mrps36 (MGI:1913378)
chr5 69234794 69277429 5q13.2 5q13.2 601955 CDK7, STK1, CAK1 Cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase) CDK7 1022 ENSG00000134058 previously mapped to 2p15-cen Cdk7 (MGI:102956)
chr5 69273086 69333069 5q13.2 5q13.2 613781 CCDC125, KENAE Coiled-coil domain-containing protein 125 CCDC125 202243 ENSG00000183323 Ccdc125 (MGI:1923291)
chr5 69364742 69370012 5q11.2-q13.1 5q13.2 600822 TAF9, TAF2G, TAFII32 TAF9 RNA polymerase II, TATA box-binding protein-associated factor, 32kD TAF9 6880 ENSG00000273841 Taf9 (MGI:1888697)
chr5 69369296 69414800 5q13 5q13.2 603139 RAD17 RAD17, S. pombe, homolog of RAD17 5884 ENSG00000152942 Rad17 (MGI:1333807)
chr5 69415111 69444021 5q13.1 5q13.2 610572 MARVELD2, MARVD2, TRIC, DFNB49 Marvel domain-containing protein 2 (tricellulin) MARVELD2 153562 ENSG00000152939 Deafness, autosomal recessive 49, 610153 (3), Autosomal recessive Marveld2 (MGI:2446166)
chr5 69492291 69558103 5q13.1 5q13.2 602876 OCLN, BLCPMG, PTORCH1 Occludin OCLN 100506658 ENSG00000197822 Pseudo-TORCH syndrome 1, 251290 (3), Autosomal recessive Ocln (MGI:106183)
chr5 70049522 70077594 5q12.2-q13.3 5q13.2 601627 SMN2 Survival of motor neuron 2, centromeric SMN2 6607 ENSG00000205571 {Spinal muscular atrophy, type III, modifier of}, 253400 (3), Autosomal recessive Smn1 (MGI:109257)
chr5 70900662 70918529 5q12.2-q13.3 5q13.2 603011 SERF1A, H4F5, SMAM1 Small EDRK-rich factor 1A SERF1A 8293 ENSG00000205572 Serf1 (MGI:1337114)
chr5 70924940 70953014 5q12.2-q13.3 5q13.2 600354 SMN1, SMA1, SMA2, SMA3, SMA4 Survival of motor neuron 1, telomeric SMN1 6606 ENSG00000205571 Spinal muscular atrophy-1, 253300 (3), Autosomal recessive; Spinal muscular atrophy-2, 253550 (3), Autosomal recessive; Spinal muscular atrophy-3, 253400 (3), Autosomal recessive; Spinal muscular atrophy-4, 271150 (3), Autosomal recessive Smn1 (MGI:109257)
chr5 70968482 71025113 5q12.2-q13.3 5q13.2 600355 BIRC1, NAIP Baculoviral IAP repeat-containing 1 (neuronal apoptosis inhibitory protein) NAIP 4671 ENSG00000249437 ?involved in SMA Naip2 (MGI:1298226)
chr5 71035123 71109112 5q12.2-q13.3 5q13.2 601748 GTF2H2 General transcription factor IIH, polypeptide 2 (44kD subunit) GTF2H2 2966 ENSG00000145736 2 copies Gtf2h2 (MGI:1345669)
chr5 71375784 71385992 5q12-q13 5q13.2 176794 PMCHL2 Pro-melanin-concentrating hormone-like 2 PMCHL2 5370
chr5 71455614 71578287 5q13 5q13.2 607012 BDP1, TFNR B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB BDP1 55814 ENSG00000145734 Bdp1 (MGI:1347077)
chr5 71587287 71658705 5q12-q13 5q13.2 609014 MCCC2, MCCB 3-Methylcrotonyl-CoA carboxylase 2 MCCC2 64087 ENSG00000131844 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3), Autosomal recessive Mccc2 (MGI:1925288)
chr5 71719162 71721047 5q13.2 5q13.2 602606 CARTPT, CART Cocaine- and amphetamine-regulated transcript prepropeptide CARTPT 9607 ENSG00000164326 mutation identified in 1 family {?Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Cartpt (MGI:1351330)
chr5 72107267 72209569 5q13 5q13.2 157129 MAP1B Microtubule-associated protein-1B MAP1B 4131 ENSG00000131711 Map1b (MGI:1306778)
chr5 72219408 72320256 5q13.2 5q13.2 611989 MRPS27, KIAA0264 Mitochondrial ribosomal protein S27 MRPS27 23107 ENSG00000113048 Mrps27 (MGI:1919064)
chr5 72320366 72368394 5q13.2 5q13.2 615484 PTCD2 Pentatricopeptide repeat domain-containing protein 2 PTCD2 79810 ENSG00000049883 Ptcd2 (MGI:1916177)
chr5 72439898 72507421 5q13.2 5q13.2 610159 ZNF366, DCSCRIPT Zinc finger protein 366 ZNF366 167465 ENSG00000178175 Zfp366 (MGI:2178429)
chr5 72816590 72914387 5q13.2 5q13.2 602901 TNPO1, KPNB2, MIP1 Transportin 1 TNPO1 3842 ENSG00000083312 Tnpo1 (MGI:2681523)
chr5 72955980 73090521 5q13.2 5q13.2 613438 FCHO2 FCH domain-only protein 2 FCHO2 115548 ENSG00000157107 Fcho2 (MGI:3505790)
chr5 73173195 73175142 5q13.2 5q13.2 614909 TMEM174 Transmembrane protein 174 TMEM174 134288 ENSG00000164325 Tmem174 (MGI:1915594)
chr5 73446255 73448526 5q12-q13 5q13.2 601091 FOXD1, FKHL8 Forkhead box D1 FOXD1 2297 ENSG00000251493 Foxd1 (MGI:1347463)
chr5 73552199 73565685 5q12-q13 5q13.2 605787 ANKRA2, ANKRA Ankyrin repeat-containing protein, family A, member 2 ANKRA2 57763 ENSG00000164331 Ankra2 (MGI:1915808)
chr5 73565740 73583376 5q13.2 5q13.2 616194 UTP15 UTP15, U3 small nucleolar ribonucleoprotein, S. cerevisiae, homolog of UTP15 84135 ENSG00000164338 Utp15 (MGI:2145443)
chr5 73626157 73941992 5q13.2 5q13.2 612790 RGNEF, p190RHOGEF Rgnef, mouse, homolog of ARHGEF28 64283 ENSG00000214944 Arhgef28 (MGI:1346016)
chr5 74627405 74641423 5q13 5q13.3 605173 ENC1, PIG10 Ectodermal-neural cortex 1 ENC1 8507 ENSG00000171617 Enc1 (MGI:109610)
chr5 74640022 74721287 5q13 5q13.3 606873 HEXB Hexosaminidase B, beta polypeptide HEXB 3074 ENSG00000049860 Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3), Autosomal recessive Hexb (MGI:96074)
chr5 74721203 74767370 5q13 5q13.3 606544 EFG2 Elongation factor G2 GFM2 84340 ENSG00000164347 Gfm2 (MGI:2444783)
chr5 74765428 74776911 5q13.3 5q13.3 612497 TINP1, NSA2, HUSSY29 Transforming growth factor-beta-inducible nuclear protein 1 NSA2 10412 ENSG00000164346 Nsa2 (MGI:1913883)
chr5 74777573 74867993 5q13.3 5q13.3 615769 FAM169A, SLAP75, KIAA0888 Family with sequence similarity 169, member A FAM169A 26049 ENSG00000198780 Fam169a (MGI:2444268)
chr5 75027463 75030898 5q12 5q13.3 616782 GCNT4 Glucosaminyl (N-acetyl) transferase 4, core 2 GCNT4 51301 ENSG00000176928 Gcnt4 (MGI:2684919)
chr5 75336333 75362100 5q13.3-q14 5q13.3 142910 HMGCR, LDLCQ3 3-hydroxy-3-methylglutaryl-Coenzyme A reductase; HMG CoA reductase HMGCR 3156 ENSG00000113161 [Low density lipoprotein cholesterol level QTL 3] (3); [Statins, attenuated cholesterol lowering by] (3) Hmgcr (MGI:96159)
chr5 75368485 75511980 5q13.3 5q13.3 604677 COL4A3BP, GPBP, CERT, MRD34 COL4A3-binding protein (ceramide transporter) COL4A3BP 10087 ENSG00000113163 Mental retardation, autosomal dominant 34, 616351 (3), Autosomal dominant Col4a3bp (MGI:1915268)
chr5 75511307 75605819 5q13.1 5q13.3 605650 POLK, POLQ, DINB1 Polymerase, DNA, kappa POLK 51426 ENSG00000122008 Polk (MGI:1349767)
chr5 75674197 75717487 5q13.1 5q13.3 617880 POC5, C5orf37 POC5 centriolar protein POC5 134359 ENSG00000152359 Poc5 (MGI:1914713)
chr5 75847462 76353938 5q13.3 5q13.3 610291 SV2C Synaptic vesicle glycoprotein 2C SV2C 22987 ENSG00000122012 Sv2c (MGI:1922459)
chr5 76403254 76708131 5q11-q13 5q13.3 605401 IQGAP2 IQ motif-containing GTPase-activating protein-2 IQGAP2 10788 ENSG00000145703 Iqgap2 (MGI:2449975)
chr5 76615481 76623433 5q13 5q13.3 601919 F2RL2, PAR3 Coagulation factor II receptor-like 2 (protease-activated receptor 3) F2RL2 2151 ENSG00000164220 order: PAR2-PAR1-PAR3 F2rl2 (MGI:1298208)
chr5 76716042 76735779 5q13 5q13.3 187930 F2R, CF2R, PAR1 Coagulation factor II (thrombin) receptor F2R 2149 ENSG00000181104 within 900kb of GPR11 F2r (MGI:101802)
chr5 76818976 76835314 5q13 5q13.3 600933 F2RL1, GPR11, PAR2 Coagulation factor II, thrombin, receptor-like 1 (G protein-coupled receptor-11) F2RL1 2150 ENSG00000164251 within 900kb of F2R F2rl1 (MGI:101910)
chr5 76849952 76952881 5q13.3 5q13.3 610103 S100Z S100 calcium-binding protein, zeta S100Z 170591 ENSG00000171643 S100z (MGI:2685471)
chr5 76952854 76981142 5q11.2-q13.3 5q13.3 122559 CRHBP Corticotropin releasing hormone-binding protein CRHBP 1393 ENSG00000145708 Crhbp (MGI:88497)
chr5 77030384 77065233 5q13.3 5q13.3 608464 AGGF1, VG5Q, HUS84971, FLJ10283 Angiogenic factor with G patch and FHA domains 1 AGGF1 55109 ENSG00000164252 Aggf1 (MGI:1913799)
chr5 77076676 77087245 5q13.3 5q13.3 615250 ZBED3 Zinc finger BED domain-containing protein 3 ZBED3 84327 ENSG00000132846 Zbed3 (MGI:1919364)
chr5 77180251 77428255 5q13 5q13.3 603390 PDE8B, PPNAD3, ADSD Phosphodiesterase 8B PDE8B 8622 ENSG00000284762 Pigmented nodular adrenocortical disease, primary, 3, 614190 (3); Striatal degeneration, autosomal dominant, 609161 (3), Autosomal dominant Pde8b (MGI:2443999)
chr5 77426651 77620610 5q13.3 5q13.3-q14.1 617502 WDR41 WD repeat-containing protein 41 WDR41 55255 ENSG00000164253 Wdr41 (MGI:2445123)
chr5 77600000 93000000 5q14 187260 HBT Telangiectasia, hereditary benign TELAB1 338411 max lod at D5S641 Telangiectasia, hereditary benign, 187260 (2), Autosomal dominant
chr5 77600000 110200000 5q14.1-q21.3 614622 KTCN5 Keratoconus 5 100885801 between D5S2499 and D5S495 Keratoconus 5, 614622 (2), Autosomal dominant
chr5 77628711 77638696 5q13.3 5q14.1 604529 OTP Orthopedia, Drosophila, homolog of OTP 23440 ENSG00000171540 Otp (MGI:99835)
chr5 77691168 77776360 5q14.1 5q14.1 610058 TBCA Tubulin-specific chaperone A TBCA 6902 ENSG00000171530 Tbca (MGI:107549)
chr5 78002325 78294754 5q14.1 5q14.1 603401 AP3B1, ADTB3A, HPS2 Adaptor-related protein complex 3, beta 1 subunit (adaptin, beta-3a) AP3B1 8546 ENSG00000132842 Hermansky-Pudlak syndrome 2, 608233 (3), Autosomal recessive Ap3b1 (MGI:1333879)
chr5 78360502 78480738 5q13.3-q14.1 5q14.1 606911 SCAMP1, SCAMP37 Secretory carrier membrane protein 1 SCAMP1 9522 ENSG00000085365 Scamp1 (MGI:1349480)
chr5 78485214 78770255 5q14.1 5q14.1 609718 LHFPL2, KIAA0206 LHFP-like protein 2 LHFPL2 10184 ENSG00000145685 Lhfpl2 (MGI:2145236)
chr5 78777208 78986086 5q11-q13 5q14.1 611542 ARSB, MPS6 Arylsulfatase B ARSB 411 ENSG00000113273 Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3), Autosomal recessive Arsb (MGI:88075)
chr5 78997563 79069673 5q12.2-q12.3 5q14.1 605849 DMGDH, DMGDHD Dimethylglycine dehydrogenase DMGDH 29958 ENSG00000132837 Dimethylglycine dehydrogenase deficiency, 605850 (3), Autosomal recessive Dmgdh (MGI:1921379)
chr5 79069723 79090073 5q13.1-q13.2 5q14.1 605932 BHMT2 Betaine-homocysteine methyltransferase 2 BHMT2 23743 ENSG00000132840 Bhmt2 (MGI:1891379)
chr5 79111780 79132289 5q13.1-q13.2 5q14.1 602888 BHMT Betaine-homocysteine methyltransferase BHMT 635 ENSG00000145692 Bhmt (MGI:1339972)
chr5 79236101 79327214 5q13.2 5q14.1 604279 JMY Junction-mediating and regulatory protein JMY 133746 ENSG00000152409 Jmy (MGI:1913096)
chr5 79373823 79513835 5q14.2 5q14.1 604798 HOMER1, HOMER1B, HOMER1C, HOMER1A Homer, homlog 1 (Drosophila) HOMER1 9456 ENSG00000152413 Homer1 (MGI:1347345)
chr5 79612416 79688242 5q14.1 5q14.1 614121 PAPD4, GLD2 Poly(A) polymerase-associated domain-containing protein 4 PAPD4 167153 ENSG00000164329 Papd4 (MGI:2140950)
chr5 79689338 79800225 5q12-q13 5q14.1 612193 CMYA5, MYOSPRYN, TRIM76 Cardiomyopathy-associated protein 5 CMYA5 202333 ENSG00000164309
chr5 79991295 80083752 5q14.1 5q14.1 600715 THBS4 Thrombospondin IV THBS4 7060 ENSG00000113296 Thbs4 (MGI:1101779)
chr5 80111226 80256081 5q14.1 5q14.1 614551 SERINC5, C5orf12, TPO1 Serine incorporator 5 SERINC5 256987 ENSG00000164300 Serinc5 (MGI:2444223)
chr5 80407614 80483378 5q14.1 5q14.1 608880 ZFYVE16, ENDOFIN, KIAA0305 Zinc finger FYVE domain-containing protein 16 ZFYVE16 9765 ENSG00000039319 Zfyve16 (MGI:2145181)
chr5 80626225 80654980 5q11.2-q13.2 5q14.1 126060 DHFR Dihydrofolate reductase DHFR 1719 ENSG00000228716 Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3), Autosomal recessive Dhfr (MGI:94890)
chr5 80654647 80876814 5q11-q12 5q14.1 600887 MSH3, FAP4 mutS, E. coli, homolog of, 3 MSH3 4437 ENSG00000113318 5' to DHFR Endometrial carcinoma, somatic, 608089 (3); Familial adenomatous polyposis 4, 617100 (3), Autosomal recessive Msh3 (MGI:109519)
chr5 80960671 81230161 5q13 5q14.1 606614 RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 RASGRF2 5924 ENSG00000113319 Rasgrf2 (MGI:109137)
chr5 81227594 81266397 5q13.3 5q14.1 123295 CKMT2 Creatine kinase, mitochondrial-2 (sarcomeric) CKMT2 1160 ENSG00000131730 Ckmt2 (MGI:1923972)
chr5 81309044 81394173 5q14.1 5q14.1 614315 ACOT12, CACH Acyl-CoA thioesterase 12 ACOT12 134526 ENSG00000172497 Acot12 (MGI:1921406)
chr5 81412806 81751252 5q13.3 5q14.1 607389 SSBP2 Single-stranded DNA-binding protein 2 SSBP2 23635 ENSG00000145687 Ssbp2 (MGI:1914220)
chr5 81972020 82258501 5q14.2 5q14.1-q14.2 610800 ATG10, APG10 Autophagy 10, S. cerevisiae, homolog of ATG10 83734 ENSG00000152348 Atg10 (MGI:1914045)
chr5 82100000 83500000 5q14.2 614317 VUR4 Vesicoureteral reflux 4 100820757 closest marker rs1501656 Vesicoureteral reflux 4, 614317 (2)
chr5 82273319 82278415 5q14.2 5q14.2 603683 RPS23, BTDD, MCINS Ribosomal protein S23 RPS23 6228 ENSG00000186468 Brachycephaly, trichomegaly, and developmental delay, 617412 (3), Autosomal dominant Rps23 (MGI:1913725)
chr5 83064203 83064336 5q14.2 5q14.2 611329 SCARNA18 Small cajal body-specific RNA 18 SCARNA18 677765 in intron 1 of TMEM167
chr5 83077408 83370332 5q13-q14 5q14.2 194363 XRCC4, SSMED X-ray repair, complementing defective, repair in Chinese hamster cells-4 XRCC4 7518 ENSG00000152422 between D5S427 and D5S401 Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive Xrcc4 (MGI:1333799)
chr5 83471673 83582302 5q12-q14 5q14.2-q14.3 118661 VCAN, CSPG2, WGN, WGN1, ERVR Versican (chondroitin sulfate proteoglycan-2) VCAN 1462 ENSG00000038427 Wagner syndrome 1, 143200 (3), Autosomal dominant Vcan (MGI:102889)
chr5 83500000 98900000 5q14.3-q15 612881 PVNH5 Periventricular nodular heterotopia 5 deletion range 6.3-17Mb, common range 5.8Mb Periventricular nodular heterotopia 5, 612881 (4)
chr5 83638197 83721209 5q13-q14.1 5q14.3 115435 HAPLN1, CRTL1 Hyaluronan and proteoglycan link protein 1 HAPLN1 1404 ENSG00000145681 Hapln1 (MGI:1337006)
chr5 86617966 86620765 5q14 5q14.3 603774 COX7C Cytochrome C oxidase, subunit VII C COX7C 1350 ENSG00000127184 pseudogene on 13q14-q21
chr5 87267844 87391925 5q13.3 5q14.3 139150 RASA1, GAP, CMAVM, PKWS RAS p21 protein activator 1 (GTPase activating protein) RASA1 5921 ENSG00000145715 Basal cell carcinoma, somatic, 605462 (3); Capillary malformation-arteriovenous malformation, 608354 (3), Autosomal dominant; Parkes Weber syndrome, 608355 (3), Autosomal dominant Rasa1 (MGI:97860)
chr5 87311479 87413032 5q13.3-q14 5q14.3 601953 CCNH, CAK Cyclin H CCNH 902 ENSG00000134480 Ccnh (MGI:1913921)
chr5 88538265 88691040 5q14.3 5q14.3 616611 LINC00461, VISC Long intergenic noncoding RNA 461 LINC00461 645323
chr5 88666852 88666938 5q14.3 5q14.3 611187 MIR9-2, MIRN9-2 Micro RNA 9-2 MIR9-2 407047
chr5 88718240 88904104 5q14 5q14.3 600662 MEF2C, C5DELq14.3, DEL5q14.3 MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C) MEF2C 4208 ENSG00000081189 Chromosome 5q14.3 deletion syndrome, 613443 (4), Autosomal dominant; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3), Autosomal dominant Mef2c (MGI:99458)
chr5 90393334 90409785 5q14.3 5q14.3 602907 CETN3, CDC31 Centrin 3 CETN3 1070 ENSG00000153140 Cetn3 (MGI:1097706)
chr5 90473928 90514554 5p14.3 5q14.3 617456 POLR3G, RPC32, RPC7 Polymerase III, RNA, subunit G POLR3G 10622 ENSG00000113356 Polr3g (MGI:1914736)
chr5 90558795 91164225 5q14.3 5q14.3 602851 ADGRV1, GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C Adhesion G protein-coupled receptor V1 ADGRV1 84059 ENSG00000164199 mutation identified in 1 FEB4 family ?Febrile seizures, familial, 4, 604352 (3), Autosomal dominant; Usher syndrome, type 2C, 605472 (3), Autosomal recessive; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3), Autosomal recessive Adgrv1 (MGI:1274784)
chr5 91368631 91383372 5q14.3 5q14.3 612464 ARRDC3, TLIMP, KIAA1376 Arrestin domain-containing 3 ARRDC3 57561 ENSG00000113369 Arrdc3 (MGI:2145242)
chr5 93583336 93594612 5q14 5q15 132890 NR2F1, TFCOUP1, ERBAL3, EAR3, BBSOAS Nuclear receptor subfamily 2, group F, member 1 (transcription factor COUP 1) NR2F1 7025 ENSG00000175745 Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 (3), Autosomal dominant Nr2f1 (MGI:1352451)
chr5 94150850 94618603 5q15 5q15 617266 KIAA0825 KIAA0825 gene KIAA0825 285600 ENSG00000185261 2210408I21Rik (MGI:1919621)
chr5 94703689 95284574 5q15 5q15 616296 MCTP1 Multiple C2 domains-containing transmembrane protein 1 MCTP1 79772 ENSG00000175471 Mctp1 (MGI:1926021)
chr5 95463894 95555004 5q15 5q15 614589 TTC37, KIAA0372 Tetratricopeptide repeat domain 37 TTC37 9652 ENSG00000198677 Trichohepatoenteric syndrome 1, 222470 (3), Autosomal recessive Ttc37 (MGI:2679923)
chr5 95555107 95605101 5q15 5q15 610011 ARSK Arylsulfatase K ARSK 153642 ENSG00000164291 Arsk (MGI:1924291)
chr5 95713521 95796366 5q14.3 5q15 607353 RHOBTB3, KIAA0878 Rho-related BTB domain-containing protein 3 RHOBTB3 22836 ENSG00000164292 Rhobtb3 (MGI:1920546)
chr5 95813848 95822872 5q14 5q15 600443 GLRX, GRX Glutaredoxin (thioltransferase) GLRX 2745 ENSG00000173221 Glrx (MGI:2135625)
chr5 95885097 95962070 5q15 5q15 601874 ELL2 Elongation factor, RNA polymerase II, 2 ELL2 22936 ENSG00000118985 Ell2 (MGI:2183438)
chr5 96390335 96433280 5q15-q21 5q15 162150 PCSK1, NEC1, PC1, PC3, BMIQ12 Proprotein convertase subtilisin/kexin type 1 PCSK1 5122 ENSG00000175426 Obesity with impaired prohormone processing, 600955 (3), Autosomal recessive; {Obesity, susceptibility to, BMIQ12}, 612362 (3) Pcsk1 (MGI:97511)
chr5 96662036 96774682 5q15-q21 5q15 114090 CAST, PLACK Calpastatin CAST 831 ENSG00000153113 Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3), Autosomal recessive Cast (MGI:1098236)
chr5 96760272 96935982 5q15 5q15 606832 ERAP1, ALAP, ARTS1, PILSAP, KIAA0525 Endoplasmic reticulum aminopeptidase 1 ERAP1 51752 ENSG00000164307 Erap1 (MGI:1933403)
chr5 96875938 96919715 5q15 5q15 609497 ERAP2, LRAP Endoplasmic reticulum aminopeptidase 2 ERAP2 64167 ENSG00000164308
chr5 96934858 97037512 5q14.2-q15 5q15 151300 LNPEP Leucyl-cystinyl aminopeptidase LNPEP 4012 ENSG00000113441 Lnpep (MGI:2387123)
chr5 97091869 97142815 5q15 5q15 610466 LIX1 Limb expression 1, mouse, homolog of LIX1 167410 ENSG00000145721 Lix1 (MGI:1913893)
chr5 97160866 97183300 5q15 5q15 617754 RIOK2, RIO2 RIO kianse 2 RIOK2 55781 ENSG00000058729 Riok2 (MGI:1914295)
chr5 98768385 98796493 5q21.1 5q15 612687 RGMB, DRAGON RGM domain family, member B RGMB 285704 ENSG00000174136 Rgmb (MGI:1916049)
chr5 98855203 98929771 5q15-q21 5q15-q21 602118 CHD1, PILBOS Chromodomain helicase DNA binding protein-1 CHD1 1105 ENSG00000153922 Pilarowski-Bjornsson syndrome, 617682 (3), Autosomal dominant Chd1 (MGI:88393)
chr5 98900000 110200000 5q21 609570 MGR8 Migraine, susceptibility to, 8 100188790 {Migraine, susceptibility to, 8}, 609570 (2)
chr5 100806934 100903284 5q21 5q21.1 602547 PST, PST1 Polysialyltransferase ST8SIA4 7903 ENSG00000113532 St8sia4 (MGI:106018)
chr5 102233985 102296548 5q21.1 5q21.1 609013 SLCO4C1, OATP4C1 Solute carrier organic anion transporter family, member 4C1 SLCO4C1 353189 ENSG00000173930 Slco4c1 (MGI:2442784)
chr5 102371781 102502212 5q21.1 5q21.1 613365 SLCO6A1, GST Solute carrier organic anion transporter family, member 6A1 SLCO6A1 133482 ENSG00000205359 Slco6b1 (MGI:1915104)
chr5 102754782 103031104 5q14-q21 5q21.1 170270 PAM Peptidylglycine alpha-amidating monooxygenase PAM 5066 ENSG00000145730 Pam (MGI:97475)
chr5 103120247 103204910 5q21.1 5q21.1 611648 HISPPD1, PPIP5K2, VIP2, KIAA0433 Histidine acid phosphatase domain-containing protein 1 PPIP5K2 23262 ENSG00000145725 Ppip5k2 (MGI:2142810)
chr5 103258701 103278659 5q21.1 5q21.1 616608 C5orf30 Chromosome 5 open reading frame 30 C5orf30 90355 ENSG00000181751 D1Ertd622e (MGI:1277184)
chr5 105100000 156300000 5q21.3-q33.2 608970 MDBS2 Macular dystrophy, butterfly-shaped pigmentary, 2 between D5S433 and D5S410 Macular dystrophy, butterfly-shaped pigmentary, 2, 608970 (2), Autosomal dominant
chr5 107376888 107670894 5q21.3 5q21.3 601535 EFNA5, EPLG7, LERK7 Ephrin A5 EFNA5 1946 ENSG00000184349 Efna5 (MGI:107444)
chr5 107859032 108382097 5q21.3 5q21.3 609083 FBXL17, FBL17, FBX13, FBXO13 F-box and leucine-rich repeat protein 17 FBXL17 64839 ENSG00000145743 Fbxl17 (MGI:1354704)
chr5 108593483 108594002 5q13-q23 5q21.3 180463 RPS20A Ribosomal protein S20A RPS20P3 6225 ?pseudogene
chr5 108746084 109196840 5q21-q22 5q21.3 176942 FER, TYK3 fer (fps/fes related) tyrosine kinase FER 2241 ENSG00000151422 Fer (MGI:105917)
chr5 109689365 109869624 5q21-q22 5q21.3 154582 MAN2A1, MANA2 Mannosidase, alpha, class 2A, member 1 MAN2A1 4124 ENSG00000112893 Man2a1 (MGI:104669)
chr5 110200000 115900000 5q22 613412 EOE2 Esophagitis, eosinophilic, 2 100499167 association with rs3806932 {Esophagitis, eosinophilic, 2}, 613412 (2), Multifactorial
chr5 110200000 150400000 5q22.1-q32 610535 GLC1M Glaucoma 1, open angle, M GLC1M 777643 between D5S2051 and D5S2090 Glaucoma 1, open angle, M, 610535 (2), Autosomal dominant
chr5 110738135 110765173 5q22.1 5q22.1 610826 SLC25A46, HMSN6B Solute carrier family 25, member 46 SLC25A46 91137 ENSG00000164209 Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive Slc25a46 (MGI:1914703)
chr5 111070079 111078023 5q22.1 5q22.1 607003 TSLP Thymic stromal lymphopoietin TSLP 85480 ENSG00000145777 Tslp (MGI:1855696)
chr5 111092171 111130501 5q21.3-q22.1 5q22.1 609669 WDR36, TAWDRP, GLC1G WD repeat-containing protein 36 WDR36 134430 ENSG00000134987 Glaucoma 1, open angle, G, 609887 (3) Wdr36 (MGI:1917819)
chr5 111223652 111498502 5q21-q23 5q22.1 114080 CAMK4 Ca(2+)-calmodulin-dependent protein kinase type IV of brain CAMK4 814 ENSG00000152495 Camk4 (MGI:88258)
chr5 111491421 111512596 5q22 5q22.1 607049 STARD4 Start domain-containing protein 4 STARD4 134429 ENSG00000164211 Stard4 (MGI:2156764)
chr5 111729302 111976930 5q22.1 5q22.1 607332 C5orf13, P311, PTZ17 P311 protein NREP 9315 ENSG00000134986 Nrep (MGI:99444)
chr5 112141828 112419315 5q22 5q22.1-q22.2 612141 EPB41L4A, EPB41L4, NBL4 Erythrocyte membrane protein band 4.1-like 4A EPB41L4A 64097 ENSG00000129595 Epb41l4a (MGI:103007)
chr5 112707504 112846238 5q22.2 5q22.2 611731 APC, GS, FPC, BTPS2 Adenomatous polyposis coli APC 324 ENSG00000134982 150kb distal to MCC Adenoma, periampullary, somatic (3); Adenomatous polyposis coli, 175100 (3), Autosomal dominant; Brain tumor-polyposis syndrome 2, 175100 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Desmoid disease, hereditary, 135290 (3), Autosomal dominant; Gardner syndrome, 175100 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Hepatoblastoma, somatic, 114550 (3) Apc (MGI:88039)
chr5 112861187 112893078 5q21-q22 5q22.2 182175 SRP19 Signal recognition particle 19kD SRP19 6728 ENSG00000153037 within 100kb of APC Srp19 (MGI:1913634)
chr5 112876383 112922333 5q22-q23 5q22.2 125265 REEP5, D5S346, DP1, C5orf18 Receptor expression-enhancing protein 5 REEP5 7905 ENSG00000129625 Reep5 (MGI:1270152)
chr5 112891615 112893096 5q22 5q22.2 601079 ZRSR1, U2AF1RS1 Zinc finger-, CCCH domain-, and RNA-binding motif-containing serine/arginine-rich protein 1 ZRSR2P1 7310
chr5 112976701 113022194 5q21-q22 5q22.2 609844 DCP2 Decapping enzyme 2, S. cerevisiae, homolog of DCP2 167227 ENSG00000172795 Dcp2 (MGI:1917890)
chr5 113022098 113488829 5q21 5q22.2 159350 MCC Mutated in colorectal cancers MCC 4163 ENSG00000171444 Colorectal cancer, somatic, 114500 (3) Mcc (MGI:96930)
chr5 113432553 113435030 5q22.2 5q22.2 610709 TSSK1, STK22D Testis-specific serine/threonine kinase 1 TSSK1B 83942 ENSG00000212122 pseudogene on chr22 Tssk1 (MGI:1347557)
chr5 113513661 113595286 5q22.2 5q22.2 616530 YTHDC2, CAHL YTH domain-containing protein 2 YTHDC2 64848 ENSG00000047188 Ythdc2 (MGI:2448561)
chr5 114056005 114496499 5q21.2-q22.1 5q22.3 605879 KCNN2, SK2 Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 2 KCNN2 3781 ENSG00000080709
chr5 115124761 115180545 5q22.3 5q22.3 609317 TRIM36, RBCC728, ANPH Tripartite motif-containing protein 36 TRIM36 55521 ENSG00000152503 mutation identified in 1 ANPH patient ?Anencephaly, 206500 (3), Autosomal recessive Trim36 (MGI:106264)
chr5 115200246 115262886 5q22.3 5q22.3 602031 PGGT1B Protein geranylgeranyltransferase type I, beta subunit PGGT1B 5229 ENSG00000164219 Pggt1b (MGI:1917514)
chr5 115578495 115602478 5q23.1 5q22.3 608321 TIRP, TRAM Toll/interleukin-1 receptor domain-containing protein TICAM2 353376 ENSG00000243414 Ticam2 (MGI:3040056)
chr5 115804732 115816707 5q22-q23 5q22.3 603943 CDO1 Cysteine dioxygenase, type 1 CDO1 1036 ENSG00000129596 Cdo1 (MGI:105925)
chr5 115841605 115914080 5q23.1 5q22.3-q23.1 601507 AP3S1, CLAPS3 Adaptor-related protein complex 3, sigma 1 subunit AP3S1 1176 ENSG00000177879 previously assigned to chr. 12 by FISH Ap3s1 (MGI:1337062)
chr5 115900000 181538259 5q23-q35 181510 SCZD1 Schizophrenia susceptibility locus, chromosome 5-related SCZD1 6377 max lod at D5S820 {Schizophrenia}, 181500 (2), Autosomal dominant
chr5 115962453 116027601 5q23.1 5q23.1 610046 LVRN Laeverin LVRN 206338 ENSG00000172901 Lvrn (MGI:1921824)
chr5 116084975 116447434 5q23.1 5q23.1 616704 COMMD10 COMM domain-containing protein 10 COMMD10 51397 ENSG00000145781 Commd10 (MGI:1916706)
chr5 116443554 116574925 5q23.1 5q23.1 605885 SEMA6A Semaphorin 6A SEMA6A 57556 ENSG00000092421 Sema6a (MGI:1203727)
chr5 119071001 119249431 5q21-q22 5q23.1 605671 DMXL1 DMX-like 1 DMXL1 1657 ENSG00000172869 Dmxl1 (MGI:2443926)
chr5 119268691 119394603 5q23.1 5q23.1 612111 TNFAIP8, SCCS2 Tumor necrosis factor-alpha-induced protein 8 TNFAIP8 25816 ENSG00000145779 Tnfaip8 (MGI:2147191)
chr5 119452442 119542334 5q23.1 5q23.1 601860 HSD17B4, PRLTS1 Hydroxysteroid (17-beta) dehydrogenase 4 HSD17B4 3295 ENSG00000133835 D-bifunctional protein deficiency, 261515 (3), Autosomal recessive; Perrault syndrome 1, 233400 (3), Autosomal recessive Hsd17b4 (MGI:105089)
chr5 120464221 120794586 5q23.1 5q23.1 615931 PRR16, LARGEN Proline-rich protein 16 PRR16 51334 ENSG00000184838 Prr16 (MGI:1918623)
chr5 121851954 121852832 5q21.3 5q23.1 608847 FTMT Ferritin, mitochondrial FTMT 94033 ENSG00000181867 Ftmt (MGI:1914884)
chr5 121961960 122075623 5q23.1 5q23.1 610479 SRFBP1, P49 Serum response factor binding protein 1 SRFBP1 153443 ENSG00000151304 Srfbp1 (MGI:1914472)
chr5 122063194 122078500 5q23.3-q31.2 5q23.1 153455 LOX, AAT10 Lysyl oxidase LOX 4015 ENSG00000113083 Aortic aneurysm, familial thoracic 10, 617168 (3), Autosomal dominant Lox (MGI:96817)
chr5 122311353 122464218 5q23.1-q23.3 5q23.2 603779 SNCAIP Synuclein-alpha-interacting protein (synphilin 1) SNCAIP 9627 ENSG00000064692 Sncaip (MGI:1915097)
chr5 122774995 122834538 5q23 5q23.2 605929 SNX2 Sorting nexin 2 SNX2 6643 ENSG00000205302 Snx2 (MGI:1915054)
chr5 123023382 123036729 5q23.2 5q23.2 123842 PPIC Peptidyl-prolyl isomerase C PPIC 5480 ENSG00000168938 Ppic (MGI:97751)
chr5 123089102 123194265 5q23.2 5q23.2 616982 PRDM6, PRISM, PDA3 PR domain-containing protein 6 PRDM6 93166 ENSG00000061455 Patent ductus arteriosus 3, 617039 (3), Autosomal dominant Prdm6 (MGI:2684938)
chr5 123344884 123423591 5q23.2 5q23.2 613446 CEP120, CCDC100, SRTD13, JBTS31 Centrosomal protein, 120kD CEP120 153241 ENSG00000168944 Joubert syndrome 31, 617761 (3), Autosomal recessive; Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3), Autosomal recessive Cep120 (MGI:2147298)
chr5 123512098 123617044 5q23 5q23.2 604253 CSNK1G3 Casein kinase I, gamma-3 CSNK1G3 1456 ENSG00000151292 Csnk1g3 (MGI:1917675)
chr5 126541840 126595389 5q31 5q23.2 107323 ALDH7A1, ATQ1, EPD, PDE Aldehyde dehydrogenase 7 family, member A1 (antiquitin 1) ALDH7A1 501 ENSG00000164904 Epilepsy, pyridoxine-dependent, 266100 (3), Autosomal recessive Aldh7a1 (MGI:108186)
chr5 126600914 126627251 5q23.2 5q23.2 604924 RNUXA, PHAX RNA, U small nuclear, export adaptor PHAX 51808 ENSG00000164902 Phax (MGI:1891839)
chr5 126776622 126837019 5q23.2 5q23.2 150340 LMNB1, ADLD Lamin B1 LMNB1 4001 ENSG00000113368 Leukodystrophy, adult-onset, autosomal dominant, 169500 (3), Autosomal dominant Lmnb1 (MGI:96795)
chr5 126867713 127032401 5q23.2 5q23.2 613333 MARCH3 Membrane-associated RING-CH finger protein 3 MARCH3 115123 ENSG00000173926 March3 (MGI:2443667)
chr5 127229518 127461221 5q23.2 5q23.2 612453 MEGF10, KIAA1780, EMARDD Multiple epidermal growth factor-like domains 10 MEGF10 84466 ENSG00000145794 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3), Autosomal recessive; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3), Autosomal recessive Megf10 (MGI:2685177)
chr5 128083790 128189687 5q23.3 5q23.3 600840 SLC12A2, NKCC1 Solute carrier family 12 (sodium/potassium/chloride transporters), member 2 SLC12A2 6558 ENSG00000064651 Slc12a2 (MGI:101924)
chr5 128257908 128538041 5q23-q31 5q23.3 612570 FBN2, CCA, EOMD Fibrillin-2 FBN2 2201 ENSG00000138829 Contractural arachnodactyly, congenital, 121050 (3), Autosomal dominant; Macular degeneration, early-onset, 616118 (3), Autosomal dominant Fbn2 (MGI:95490)
chr5 129460264 129738682 5q31 5q23.3 607513 ADAMTS19 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 19 ADAMTS19 171019 ENSG00000145808 Adamts19 (MGI:2442875)
chr5 129903383 130186636 5q31 5q23.3 609963 CHSY3, CSS3 Chondroitin sulfate synthase 3 CHSY3 337876 ENSG00000198108 Chsy3 (MGI:1926173)
chr5 131159282 131165347 5q31.2 5q23.3 601314 HINT1, PRKCNH1, NMAN Histidine triad nucleotide-binding protein 1 (protein kinase C inhibitor 1) HINT1 3094 ENSG00000169567 Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3), Autosomal recessive Hint1 (MGI:1321133)
chr5 131170913 131205425 5q23.3 5q23.3-q31.1 615831 LYRM7, MZM1L, MC3DN8 LYR motif-containing protein 7 LYRM7 90624 ENSG00000186687 Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive Lyrm7 (MGI:1922780)
chr5 131200000 160500000 5q31-q33 608174 AITD2 Autoimmune thyroid disease, susceptibility to, 2 387579 {Autoimmune thyroid disease, susceptibility to, 2}, 608174 (2)
chr5 131200000 160500000 5q31-q33 605845 ATOD6 Dermatitis, atopic, 6 114477 between D5S436 and D5S643 {Dermatitis, atopic, susceptibility to, 6}, 605845 (2)
chr5 131200000 160500000 5q31-q33 609754 CELIAC2 Celiac disease, susceptibility to, 2 CELIAC2 317782 {Celiac disease, susceptibility to, 2}, 609754 (2)
chr5 131200000 150400000 5q31.1-q32 607683 DFNA52, DFNA42 Deafness, autosomal dominant 52 max lod at D5S2017 Deafness, autosomal dominant 52, 607683 (2), Autosomal dominant
chr5 131200000 145100000 5q31 615649 DFNA54 Deafness, autosomal dominant 54 DFNA54 448962 between D5S1972 and D5S410 Deafness, autosomal dominant 54, 615649 (2), Autosomal dominant
chr5 131200000 160500000 5q31-q33 131400 EOS Eosinophilia, familial 7908 Eosinophilia, familial, 131400 (2), Autosomal dominant
chr5 131200000 145100000 5q31 606348 IBD5 Inflammatory bowel disease 5 IBD5 50941 {Inflammatory bowel disease 5}, 606348 (2)
chr5 131200000 153300000 5q31.1-q33.1 605598 IDDM18 Insulin-dependent diabetes mellitus-18 IDDM18 57044 close to IL12B {Diabetes mellitus, insulin-dependent, 18}, 605598 (2)
chr5 131200000 136900000 5q31.1 147061 IGES Immunoglobulin E concentration, serum IGES 3478 {?Allergy and asthma susceptibility}, 147061 (2)
chr5 131200000 145100000 5q31 604966 PCDHA@ Protocadherin-alpha gene cluster
chr5 131200000 145100000 5q31 604967 PCDHB@ Protocadherin-beta gene cluster
chr5 131200000 145100000 5q31 604968 PCDHG Protocadherin-gamma gene cluster
chr5 131200000 145100000 5q31 606263 PDB4 Paget disease of bone 4 PDB4 94003 Paget disease of bone 4, 606263 (2), Autosomal dominant
chr5 131200000 160500000 5q31-q33 248310 PFBI Plasmodium falciparum blood infection levels 7910 {Malaria, intensity of infection}, 248310 (2), Autosomal recessive
chr5 131200000 153300000 5q31.1-q33.1 612599 PSORS11 Psoriasis susceptibility 11 100271719 associated with rs10045431 {Psoriasis susceptibility 11}, 612599 (2)
chr5 131200000 145100000 5q31 615197 RLS8 Restless legs syndrome, susceptibility to, 8 101448072 {Restless legs syndrome 8}, 615197 (2)
chr5 131200000 160500000 5q31-q33 181460 SM1 Schistosoma mansoni infection, susceptibility/resistance to 7911 {Schistosoma mansoni infection, susceptibility/resistance to}, 181460 (2), Autosomal dominant
chr5 131423920 131635235 5q31.1 5q31.1 610499 RAPGEF6, RAGEF2, PDZGEF2 RAP guanine nucleotide exchange factor 6 RAPGEF6 51735 ENSG00000158987 Rapgef6 (MGI:2384761)
chr5 131641712 131797062 5q23.3 5q31.1 610594 FNIP1, KIAA1961 Folliculin-interacting protein 1 FNIP1 96459 ENSG00000217128 Fnip1 (MGI:2444668)
chr5 131806989 131945697 5q31.1 5q31.1 616232 MEIKIN Meiotic kinetochore factor MEIKIN 728637 ENSG00000239642 Meikin (MGI:1922097)
chr5 131949972 132012067 5q31 5q31.1 604443 ACSL6, FACL6, ACS2 Acyl-CoA synthetase long-chain family member 6 ACSL6 23305 ENSG00000164398 Myelodysplastic syndrome (3); Myelogenous leukemia, acute (3) Acsl6 (MGI:894291)
chr5 132060653 132063202 5q31.1 5q31.1 147740 IL3 Interleukin-3 IL3 3562 ENSG00000164399 9kb from CSF2; order: cen-5'IL3-5'CF2-qter
chr5 132073791 132076169 5q31.1 5q31.1 138960 CSF2, GMCSF Colony-stimulating factor-2 (granulocyte-macrophage) CSF2 1437 ENSG00000164400 order: cen-CSF2-CSF1-FMS-qter Csf2 (MGI:1339752)
chr5 132190146 132227862 5q31 5q31.1 600608 P4HA2, MYP25 Procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit, isoform 2 P4HA2 8974 ENSG00000072682 Myopia 25, autosomal dominant, 617238 (3), Autosomal dominant P4ha2 (MGI:894286)
chr5 132257657 132273453 5q31.1 5q31.1 603422 RIL LIM domain protein ril PDLIM4 8572 ENSG00000131435 {Osteoporosis, susceptibility to}, 166710 (3), Autosomal dominant Pdlim4 (MGI:1353470)
chr5 132294383 132344205 5q31 5q31.1 604190 SLC22A4, OCTN1 Solute carrier family 22 (organic cation transporter), member 4 SLC22A4 6583 ENSG00000197208 {Rheumatoid arthritis, susceptibility to}, 180300 (3) Slc22a4 (MGI:1353479)
chr5 132369703 132395613 5q31.1 5q31.1 603377 SLC22A5, OCTN2, CDSP, SCD Solute carrier, family 22 (organic cation transporter), member 5 SLC22A5 6584 ENSG00000197375 Carnitine deficiency, systemic primary, 212140 (3), Autosomal recessive Slc22a5 (MGI:1329012)
chr5 132481608 132490788 5q31.1 5q31.1 147575 IRF1, MAR Interferon regulatory factor-1 IRF1 3659 ENSG00000125347 Gastric cancer, somatic, 613659 (3); Myelodysplastic syndrome, preleukemic (3); Myelogenous leukemia, acute (3); Nonsmall cell lung cancer, somatic, 211980 (3) Irf1 (MGI:96590)
chr5 132539193 132556863 5q31.1 5q31.1 147850 IL5 Interleukin-5 IL5 3567 ENSG00000113525 < 310kb from IL4 Il5 (MGI:96557)
chr5 132556923 132644620 5q31 5q31.1 604040 RAD50, NBSLD RAD50, S. cerevisiae, homolog of RAD50 10111 ENSG00000113522 Nijmegen breakage syndrome-like disorder, 613078 (3) Rad50 (MGI:109292)
chr5 132656523 132661108 5q31 5q31.1 147683 IL13, ALRH, BHR1 Interleukin-13 IL13 3596 ENSG00000169194 {Allergic rhinitis, susceptibility to}, 607154 (3); {Asthma, susceptibility to}, 600807 (3), Autosomal dominant Il13 (MGI:96541)
chr5 132673985 132682677 5q31.1 5q31.1 147780 IL4 Interleukin-4 IL4 3565 ENSG00000113520 Il4 (MGI:96556)
chr5 132688807 132737577 5q31 5q31.1 604683 KIF3A Kinesin family member 3A KIF3A 11127 ENSG00000131437 Kif3a (MGI:107689)
chr5 132750816 132778215 5q31-q33 5q31.1 608418 SEPT8, KIAA0202 Septin 8 SEPT8 23176 ENSG00000164402 Sept8 (MGI:894310)
chr5 132822140 132831626 5q31.1 5q31.1 611179 SHROOM1, APXL2, KIAA1960 SHROOM family member 1 SHROOM1 134549 ENSG00000164403 Shroom1 (MGI:1919024)
chr5 132861180 132866883 5q31.1 5q31.1 601918 GDF9 Growth/differentiation factor 9 GDF9 2661 ENSG00000164404 Gdf9 (MGI:95692)
chr5 132866626 132868843 5q31.1 5q31.1 612080 UQCRQ, QPC, MC3DN4 Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kD UQCRQ 27089 ENSG00000164405 Mitochondrial complex III deficiency, nuclear type 4, 615159 (3), Autosomal recessive Uqcrq (MGI:107807)
chr5 132873665 132874889 5q31.1 5q31.1 611373 LEAP2 Liver-expressed antimicrobial peptide 2 LEAP2 116842 ENSG00000164406 Leap2 (MGI:2672795)
chr5 132875378 132963661 5q31 5q31.1 604417 AFF4, AF5Q31, CHOPS AF4/FMR2 family, member 4 AFF4 27125 ENSG00000072364 CHOPS syndrome, 616368 (3), Autosomal dominant Aff4 (MGI:2136171)
chr5 133051969 133105016 5q31.1-q31.2 5q31.1 601113 HSPA4 Heat-shock 70kD protein-4 HSPA4 3308 ENSG00000170606 Hspa4 (MGI:1342292)
chr5 133913676 133917268 5q31.1 5q31.1 616333 WSPAR, lncTCF7 WNT signaling pathway activating noncoding RNA WSPAR 105664404
chr5 133971874 134070986 5q31 5q31.1 604492 VDAC1 Voltage-dependent anion channel 1 VDAC1 7416 ENSG00000213585 Vdac1 (MGI:106919)
chr5 134114697 134148228 5q31.1 5q31.1 189908 TCF7 Transcription factor-7, T-cell specific TCF7 6932 ENSG00000081059 originally called TCF-1
chr5 134156390 134177032 5q31 5q31.1 601434 SKP1, SKP1A, TCEB1L, OCP2 S-phase kinase-associated protein 1 (p19A) SKP1 6500 ENSG00000113558 pseudogene on chr.7 Skp1a (MGI:103575)
chr5 134196251 134226258 5q23-q31 5q31.1 176915 PPP2CA Protein phosphatase-2 (formerly 2A), catalytic subunit, alpha isoform PPP2CA 5515 ENSG00000113575 Ppp2ca (MGI:1321159)
chr5 134236119 134372379 5q31 5q31.1 608459 CDKL3, NKIAMRE Cyclin-dependent kinase-like 3 CDKL3 51265 ENSG00000006837 Cdkl3 (MGI:2388268)
chr5 134371175 134392107 5q23-q31 5q31.1 179095 UBE2B, RAD6B Ubiquitin-conjugating enzyme E2B (RAD6 homolog) UBE2B 7320 ENSG00000119048 ?Male infertility (1) Ube2b (MGI:102944)
chr5 134524152 134583229 5q31.1 5q31.1 610515 PHF15, JADE2, KIAA0239 PHD finger protein 15 JADE2 23338 ENSG00000043143 Jade2 (MGI:1924151)
chr5 134601148 134632842 5q31.1 5q31.1 607690 SAR1B, CMRD, SARA2, ANDD Sar1a, S. cerevisiae, homolog 2 SAR1B 51128 ENSG00000152700 Chylomicron retention disease, 246700 (3), Autosomal recessive Sar1b (MGI:1913647)
chr5 134647756 134727910 5q31.1 5q31.1 607183 SEC24A Sec24-related gene family, member A SEC24A 10802 ENSG00000113615 Sec24a (MGI:1924621)
chr5 134738479 134752159 5q23 5q31.1 601118 CAMLG Calcium-modulating cyclophilin ligand CAMLG 819 ENSG00000164615 Caml (MGI:104728)
chr5 134758733 134831137 5q31.1 5q31.1 617848 DDX46, PRP5, KIAA0801 DEAD box helicase 46 DDX46 9879 ENSG00000145833 Ddx46 (MGI:1920895)
chr5 134873769 134901632 5q31.1 5q31.1 617778 TXNDC15, C5orf14, BUG Thioredoxin domain-containing protein 15 TXNDC15 79770 ENSG00000113621 Txndc15 (MGI:1916922)
chr5 134905119 134962645 5q31.2 5q31.1 609836 PCBD2, DCOH2, DCOHM Pterin-4-alpha-carbinolamine dehydratase 2 PCBD2 84105 ENSG00000132570 Pcbd2 (MGI:1919812)
chr5 134967905 135011706 5q31.1 5q31.1 609120 CATSPER3, CACRC Cation channel, sperm-associated, 3 CATSPER3 347732 ENSG00000152705 Catsper3 (MGI:1924106)
chr5 135027733 135034273 5q31 5q31.1 602149 PITX1, PTX1, BFT, POTX, CCF, LBNBG Paired-like homeodomain transcription factor-1 PITX1 5307 ENSG00000069011 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3), Autosomal dominant; Liebenberg syndrome, 186550 (4), Autosomal dominant Pitx1 (MGI:107374)
chr5 135334380 135401997 5q31.3-q32 5q31.1 610054 H2AFY, MH2A1 H2A histone family, member Y H2AFY 9555 ENSG00000113648 H2afy (MGI:1349392)
chr5 135444213 135447347 5q31.1 5q31.1 609710 C5orf20, DCNP1 Dendritic cell nuclear protein 1 DCANP1 140947 ENSG00000251380
chr5 135448867 135452398 5q31.2 5q31.1 612663 TIFAB TRAF-interacting protein with forkhead-associated domain, family member B TIFAB 497189 ENSG00000255833 Tifab (MGI:2385852)
chr5 135534281 135535948 5q23-q31 5q31.1 601726 NEUROG1, NEUROD3 Neurogenin 1 NEUROG1 4762 ENSG00000181965 Neurog1 (MGI:107754)
chr5 135570678 135579278 5q31 5q31.1 604186 CXCL14, SCYB14, BRAK Chemokine, C-X-C motif, ligand 14 CXCL14 9547 ENSG00000145824 Cxcl14 (MGI:1888514)
chr5 135579164 135888636 5q31.1 5q31.1 616150 SLC25A48 Solute carrier family 25, member 48 SLC25A48 153328 ENSG00000145832
chr5 135892245 135895826 5q31.1 5q31.1 146931 IL9 Interleukin-9 IL9 3578 ENSG00000145839 Il9 (MGI:96563)
chr5 135930296 135941995 5q31.1 5q31.1 609087 FBXL21, FBL21, FBXL3B, FBL3B F-box and leucine-rich repeat protein 21 FBXL21 26223 Fbxl21 (MGI:2442921)
chr5 135946910 135955033 5q31.1-q32 5q31.1 602882 LECT2 Leukocyte cell-derived chemotaxin 2 LECT2 3950 ENSG00000145826 Lect2 (MGI:1278342)
chr5 136028894 136063817 5q31 5q31.1 601692 TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD Transforming growth factor, beta-induced, 68kD TGFBI 7045 ENSG00000120708 Corneal dystrophy, Avellino type, 607541 (3), Autosomal dominant; Corneal dystrophy, Groenouw type I, 121900 (3), Autosomal dominant; Corneal dystrophy, Reis-Bucklers type, 608470 (3); Corneal dystrophy, Thiel-Behnke type, 602082 (3), Autosomal dominant; Corneal dystrophy, epithelial basement membrane, 121820 (3), Autosomal dominant; Corneal dystrophy, lattice type I, 122200 (3), Autosomal dominant; Corneal dystrophy, lattice type IIIA, 608471 (3), Autosomal dominant Tgfbi (MGI:99959)
chr5 136080490 136080597 5q31 5q31.1 614938 VTRNA2-1, NC886, CBL3, VTRNA2 Vault RNA 2-1 VTRNA2-1 100126299
chr5 136132844 136182733 5q31 5q31.1 603110 MADH5, SMAD5 Mothers against decapentaplegic, Drosophila, homolog of, 5 SMAD5 4090 ENSG00000113658 Smad5 (MGI:1328787)
chr5 136975297 137499328 5q31 5q31.2 602264 SPOCK Testican SPOCK1 6695 ENSG00000152377 previously mapped to chr.21 Spock1 (MGI:105371)
chr5 137617499 137736089 5q31 5q31.2 605775 KLHL3, PHA2D Kelch-like 3 KLHL3 26249 ENSG00000146021 Pseudohypoaldosteronism, type IID, 614495 (3), Autosomal recessive, Autosomal dominant Klhl3 (MGI:2445185)
chr5 137751383 137754349 5q31 5q31.2 609409 HNRPA0 Heterogeneous nuclear ribonucleoprotein A0 HNRNPA0 10949 ENSG00000177733 Hnrnpa0 (MGI:1924384)
chr5 137801192 137810750 5q31 5q31.2 601770 NPY6R, PP2 Neuropeptide Y receptor Y6 NPY6R 4888 ?nonfunctional pseudogene
chr5 137867281 137887850 5q31 5q31.2 604103 MYOT, TTOD, MFM3 Myotilin (titin immunoglobulin domain protein) MYOT 9499 ENSG00000120729 Muscular dystrophy, limb-girdle, type 1A, 159000 (3), Autosomal dominant; Myopathy, myofibrillar, 3, 609200 (3), Autosomal dominant; Myopathy, spheroid body, 182920 (3), Autosomal dominant Myot (MGI:1889800)
chr5 137889410 137942746 5q31 5q31.2 604669 PKD2L2 Polycystin 2-like 2 PKD2L2 27039 ENSG00000078795 Pkd2l2 (MGI:1858231)
chr5 137937908 138051960 5q31.2 5q31.2 609371 FAM13B, C5orf5 Family with sequence similarity 13, member B FAM13B 51306 ENSG00000031003 Fam13b (MGI:2447834)
chr5 138077366 138092899 5q31.2 5q31.2 606360 WNT8A Wingless-type MMTV integration site family, member 8A WNT8A 7478 ENSG00000061492 Wnt8a (MGI:107924)
chr5 138115171 138139470 5q23-q31 5q31.2 603575 NME5, NM23H5 Nonmetastatic cells 5, protein expressed in (nonmetastatic protein 23, homolog 5) NME5 8382 ENSG00000112981 Nme5 (MGI:1922783)
chr5 138139765 138178668 5q31.2 5q31.2 602848 BRD8, SMAP Bromodomain-containing protein 8 BRD8 10902 ENSG00000112983 Brd8 (MGI:1925906)
chr5 138178727 138187714 5q31 5q31.2 605664 KIF20A, RAB6KIFL Kinesin family member 20A KIF20A 10112 ENSG00000112984 Kif20a (MGI:1201682)
chr5 138187647 138213342 5q31.1 5q31.2 603462 CDC23, APC8 Cell division cycle 23 (anaphase-promoting complex 8) CDC23 8697 ENSG00000094880 Cdc23 (MGI:1098815)
chr5 138252379 138274563 5q31 5q31.2 605710 GFRA3 GDNF family receptor alpha-3 GFRA3 2676 ENSG00000146013 Gfra3 (MGI:1201403)
chr5 138285264 138338354 5q31 5q31.2 157680 CDC25C Cell division cycle 25C CDC25C 995 ENSG00000158402 Cdc25c (MGI:88350)
chr5 138337534 138349728 5q31.2 5q31.2 609372 FAM53C, C5orf6 Family with sequence similarity 53, member C FAM53C 51307 ENSG00000120709 Fam53c (MGI:1913556)
chr5 138352595 138437026 5q31 5q31.2 609373 KDM3B, C5orf7, KIAA1082, JMJD1B Lysine-specific demethylase 3B KDM3B 51780 ENSG00000120733 Kdm3b (MGI:1923356)
chr5 138439000 138446968 5q31 5q31.2 609347 REEP2, C5orf19, SPG72 Receptor expression-enhancing protein 2 REEP2 51308 ENSG00000132563 mutation identified in 1 family each SPG72 AR and AD ?Spastic paraplegia 72, autosomal dominant, 615625 (3), Autosomal recessive, Autosomal dominant; ?Spastic paraplegia 72, autosomal recessive, 615625 (3), Autosomal recessive, Autosomal dominant Reep2 (MGI:2385070)
chr5 138465491 138469314 5q31.1 5q31.2 128990 EGR1 Early growth response-1 EGR1 1958 ENSG00000120738 Egr1 (MGI:95295)
chr5 138506092 138543299 5q31.1 5q31.2 600285 ETF1, RF1, ERF1 Eukaryotic translation termination factor-1 ETF1 2107 ENSG00000120705 Etf1 (MGI:2385071)
chr5 138554881 138575628 5q31.2 5q31.2 600548 HSPA9, HSPA9B, MOT2, GRP75, EVPLS, SIDBA4 Heat-shock 70kD protein-9 (mortalin) HSPA9 3313 ENSG00000113013 Anemia, sideroblastic, 4, 182170 (3), Autosomal dominant; Even-plus syndrome, 616854 (3), Autosomal recessive Hspa9 (MGI:96245)
chr5 138753385 138935033 5q31 5q31.2 116805 CTNNA1, MDPT2 Catenin (cadherin-associated protein), alpha 1, 102kD CTNNA1 1495 ENSG00000044115 Macular dystrophy, patterned, 2, 608970 (3), Autosomal dominant Ctnna1 (MGI:88274)
chr5 138869389 138875367 5q31.2 5q31.2 610868 LRRTM2, KIAA0416 Leucine-rich repeat transmembrane protein 2 LRRTM2 26045 ENSG00000146006 Lrrtm2 (MGI:2389174)
chr5 138946719 139198375 5q31 5q31.2 608005 SIL1, BAP, MSS Sil1, S. cerevisiae, homolog of SIL1 64374 ENSG00000120725 Marinesco-Sjogren syndrome, 248800 (3), Autosomal recessive Sil1 (MGI:1932040)
chr5 139273751 139331676 5q31.2 5q31.2 164015 MATR3, MPD2, ALS21 Matrin 3 MATR3 9782 ENSG00000015479 Amyotrophic lateral sclerosis 21, 606070 (3), Autosomal dominant Matr3 (MGI:1298379)
chr5 139341831 139369719 5q31.2 5q31.2 605604 PAIP2, PAIP2A Polyadenylate-binding protein-interacting protein 2 PAIP2 51247 ENSG00000120727 Paip2 (MGI:1915119)
chr5 139367195 139384552 5q31.2-q31.3 5q31.2 603790 SLC23A1, SVCT1 Solute carrier family 23 (nucleobase transporter), member 1 (sodium-dependent vitamin C transporter 1) SLC23A1 9963 ENSG00000170482 opposite orientation to MATR3 Slc23a1 (MGI:1341903)
chr5 139387567 139389915 5q31.2 5q31.2 609447 MZB1, PACAP, MGC29506 Marginal zone B and B1 cell-specific protein MZB1 51237 ENSG00000170476 Mzb1 (MGI:1917066)
chr5 139448553 139462742 5q31 5q31.2 615736 ECSCR, ECSM2, ARIA Endothelial cell surface-expressed chemotaxis and apoptosis regulator ECSCR 641700 ENSG00000249751 Ecscr (MGI:1915795)
chr5 139475527 139482789 5q31.2 5q31.2 612374 TMEM173, STING, MPYS, SAVI Transmembrane protein 173 TMEM173 340061 ENSG00000184584 STING-associated vasculopathy, infantile-onset, 615934 (3), Autosomal dominant Tmem173 (MGI:1919762)
chr5 139561165 139628433 5q31.2 5q31.2 602962 UBE2D2, UBCH5B, UBC4 Ubiquitin-conjugating enzyme E2D 2 UBE2D2 7322 ENSG00000131508 Ube2d2a (MGI:1930715)
chr5 139647298 139683884 5q31.3 5q31.2 612752 CXXC5 CXXC finger protein 5 CXXC5 51523 ENSG00000171604 Cxxc5 (MGI:1914643)
chr5 139846778 140043674 5q23-q33 5q31.2 603818 NRG2 Neuregulin 2 NRG2 9542 ENSG00000158458 Nrg2 (MGI:1098246)
chr5 140100000 150400000 5q31.3-q32 601101 HHT3, ORW3 Hereditary hemorrhagic telangiectasia, type 3 780903 Telangiectasia, hereditary hemorrhagic, type 3, 601101 (2)
chr5 140114122 140119415 5q31 5q31.3 600473 PURA, PUR1, MRD31 Purine-rich element binding protein A PURA 5813 ENSG00000185129 Mental retardation, autosomal dominant 31, 616158 (3), Autosomal dominant Pura (MGI:103079)
chr5 140245049 140303103 5q31 5q31.3 604897 PFDN1 Prefoldin 1 PFDN1 5201 ENSG00000113068 Pfdn1 (MGI:1914449)
chr5 140332842 140346602 5q23 5q31.3 126150 HBEGF, DTR, DTSF, HEGFL Heparin-binding EGF-like growth factor (diphtheria toxin receptor) HBEGF 1839 ENSG00000113070 {Diphtheria, susceptibility to} (1) Hbegf (MGI:96070)
chr5 140401813 140539855 5q31.3 5q31.3 610500 ANKHD1, MASK, KIAA1085, VBARP Ankyrin repeat and KH domain-containing protein 1 ANKHD1 54882 ENSG00000131503 Ankhd1 (MGI:1921733)
chr5 140550066 140558092 5q31.3 5q31.3 603819 SRA1 Steroid receptor RNA activator 1 SRA1 10011 ENSG00000213523 Sra1 (MGI:1344414)
chr5 140558267 140564603 5q31 5q31.3 602711 APBB3, FE65L2 Amyloid beta (A4) precursor protein-binding, family B, member 3 APBB3 10307 ENSG00000113108 Apbb3 (MGI:108404)
chr5 140631727 140633700 5q31.1 5q31.3 158120 CD14 CD14 antigen CD14 929 ENSG00000170458 Cd14 (MGI:88318)
chr5 140645362 140647784 5q31.2 5q31.3 602137 NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8) NDUFA2 4695 ENSG00000131495 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial Ndufa2 (MGI:1343103)
chr5 140647798 140662479 5q31.3 5q31.3 600549 IK, RED IK cytokine, downregulator of HLA II IK 3550 ENSG00000113141 Ik (MGI:1345142)
chr5 140670795 140673585 5q31.3 5q31.3 609385 DND1 Dead end, zebrafish, homolog of, 1 DND1 373863 ENSG00000256453 Dnd1 (MGI:2447763)
chr5 140673903 140691726 5q31.3 5q31.3 142810 HARS, USH3B, CMT2W Histidyl-tRNA synthetase HARS 3035 ENSG00000170445 Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3), Autosomal dominant; Usher syndrome type 3B, 614504 (3), Autosomal recessive Hars (MGI:108087)
chr5 140691425 140699317 5q31.3 5q31.3 600783 HARS2, HARSL, HARSR, HO3, PRLTS2 Histidyl-tRNA synthetase 2 HARS2 23438 ENSG00000112855 mutation identified in 1 PRLTS2 family ?Perrault syndrome 2, 614926 (3), Autosomal recessive Hars2 (MGI:1918041)
chr5 140711275 140711372 5q31 5q31.3 612695 VTRNA1-1, HVG1, VAULTRC1 Vault RNA 1-1 VTRNA1-1 56664
chr5 140718925 140719012 5q31 5q31.3 612696 VTRNA1-2, HVG2, VAULTRC2 Vault RNA 1-2 VTRNA1-2 56663
chr5 140726158 140726245 5q31 5q31.3 612697 VTRNA1-3, HVG3, VAULTRC3 Vault RNA 1-3 VTRNA1-3 56662
chr5 140786135 141012343 5q31 5q31.3 606307 PCDHA1 Protocadherin-alpha 1 PCDHA1 56147 ENSG00000204970 Pcdha1 (MGI:2150982)
chr5 140794858 141012343 5q31 5q31.3 606308 PCDHA2 Protocadherin-alpha 2 PCDHA2 56146 ENSG00000204969 Pcdha2 (MGI:2681880)
chr5 140801197 141012343 5q31 5q31.3 606309 PCDHA3 Protocadherin-alpha 3 PCDHA3 56145 ENSG00000255408 Pcdha3 (MGI:2447313)
chr5 140807073 141012343 5q31 5q31.3 606310 PCDHA4 Protocadherin-alpha 4 PCDHA4 56144 ENSG00000204967 Pcdha4 (MGI:1298406)
chr5 140821775 141012343 5q31 5q31.3 606311 PCDHA5 Protocadherin-alpha 5 PCDHA5 56143 ENSG00000204965 Pcdha5 (MGI:1298371)
chr5 140827921 141012343 5q31 5q31.3 606312 PCDHA6 Protocadherin-alpha 6 PCDHA6 56142 ENSG00000081842 Pcdha6 (MGI:1298367)
chr5 140834383 141012343 5q31 5q31.3 606313 PCDHA7 Protocadherin-alpha 7 PCDHA7 56141 ENSG00000204963 Pcdha7 (MGI:1298369)
chr5 140841321 141012343 5q31 5q31.3 606314 PCDHA8 Protocadherin-alpha 8 PCDHA8 56140 ENSG00000204962
chr5 140847771 141012343 5q31 5q31.3 606315 PCDHA9 Protocadherin-alpha 9 PCDHA9 9752 ENSG00000204961 Pcdha8 (MGI:2681879)
chr5 140855882 141012343 5q31 5q31.3 606316 PCDHA10 Protocadherin-alpha 10 PCDHA10 56139 ENSG00000250120 Pcdha9 (MGI:2447322)
chr5 140867512 141012343 5q31 5q31.3 606317 PCDHA11 Protocadherin-alpha 11 PCDHA11 56138 ENSG00000249158 Pcdha11 (MGI:1298372)
chr5 140875301 141012343 5q31 5q31.3 606318 PCDHA12 Protocadherin-alpha 12 PCDHA12 56137 ENSG00000251664 Pcdha10 (MGI:1298408)
chr5 140882268 141012343 5q31 5q31.3 606319 PCDHA13 Protocadherin-alpha 13 PCDHA13 56136 ENSG00000239389 Pcdha12 (MGI:1298370)
chr5 140926716 141012343 5q31 5q31.3 606320 PCDHAC1 Protocadherin-alpha, subfamily C, member 1 PCDHAC1 56135 ENSG00000248383 Pcdhac1 (MGI:1891442)
chr5 140966161 141012343 5q31 5q31.3 606321 PCDHAC2 Protocadherin-alpha, subfamily C, member 2 PCDHAC2 56134 ENSG00000243232 Pcdhac2 (MGI:1891443)
chr5 141051375 141053961 5q31 5q31.3 606327 PCDHB1 Protocadherin-beta 1 PCDHB1 29930 ENSG00000171815 Pcdhb1 (MGI:2136730)
chr5 141094606 141097379 5q31 5q31.3 606328 PCDHB2 Protocadherin-beta 2 PCDHB2 56133 ENSG00000112852 Pcdhb2 (MGI:2136735)
chr5 141100241 141103826 5q31 5q31.3 606329 PCDHB3 Protocadherin-beta 3 PCDHB3 56132 ENSG00000113205 Pcdhb3 (MGI:2136737)
chr5 141121749 141125622 5q31 5q31.3 606330 PCDHB4 Protocadherin-beta 4 PCDHB4 56131 ENSG00000081818 Pcdhb5 (MGI:2136739)
chr5 141135205 141138126 5q31 5q31.3 606331 PCDHB5 Protocadherin-beta 5 PCDHB5 26167 ENSG00000113209 Pcdhb10 (MGI:2136745)
chr5 141150021 141153286 5q31 5q31.3 606332 PCDHB6 Protocadherin-beta 6 PCDHB6 56130 ENSG00000113211 Pcdhb13 (MGI:2136748)
chr5 141172620 141176375 5q31 5q31.3 606333 PCDHB7 Protocadherin-beta 7 PCDHB7 56129 ENSG00000113212 Pcdhb15 (MGI:2136750)
chr5 141177789 141180499 5q31 5q31.3 606334 PCDHB8 Protocadherin-beta 8 PCDHB8 56128 ENSG00000120322 Pcdhb16 (MGI:2136752)
chr5 141181689 141186220 5q31 5q31.3 606345 PCDHB16 Protocadherin-beta 16 PCDHB16 57717 ENSG00000272674 Pcdhb17 (MGI:2136754)
chr5 141187126 141191537 5q31 5q31.3 606335 PCDHB9 Protocadherin-beta 9 PCDHB9 56127 ENSG00000177839
chr5 141192378 141195639 5q31 5q31.3 606336 PCHB10 Protocadherin-beta 10 PCDHB10 56126 ENSG00000120324
chr5 141199774 141203044 5q31 5q31.3 606337 PCDHB11 Protocadherin-beta 11 PCDHB11 56125 ENSG00000197479 Pcdhb21 (MGI:2136759)
chr5 141208718 141212125 5q31 5q31.3 606338 PCDHB12 Protocadherin-beta 12 PCDHB12 56124 ENSG00000120328 Pcdhb19 (MGI:2136757)
chr5 141213918 141217420 5q31 5q31.3 606339 PCDHB13 Protocadherin-beta 13 PCDHB13 56123 ENSG00000187372
chr5 141222325 141226287 5q31 5q31.3 606340 PCDHB14 Protocadherin-beta 14 PCDHB14 56122 ENSG00000120327 Pcdhb20 (MGI:2136758)
chr5 141245348 141248233 5q31 5q31.3 606341 PCDHB15 Protocadherin-beta 15 PCDHB15 56121 ENSG00000113248 Pcdhb22 (MGI:2136760)
chr5 141302628 141304062 5q31 5q31.3 608157 SLC25A2, ORNT2 Solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 2 SLC25A2 83884 ENSG00000120329
chr5 141318489 141320783 5q31 5q31.3 600573 TAF7, TAF2F, TAFII55 TAF7 RNA polymerase II, TATA box-binding protein-associated factor, 55kD TAF7 6879 ENSG00000178913 Taf7 (MGI:1346348)
chr5 141330684 141512978 5q31 5q31.3 606288 PCDHGA1 Protocadherin-gamma, subfamily A, member 1 PCDHGA1 56114 ENSG00000204956 Pcdhga1 (MGI:1935212)
chr5 141338759 141512978 5q31 5q31.3 606289 PCDHGA2 Protocadherin-gamma, subfamily A, member 2 PCDHGA2 56113 ENSG00000081853 Pcdhga2 (MGI:1935214)
chr5 141344033 141512978 5q31 5q31.3 606290 PCDHGA3 Protocadherin-gamma, subfamily A, member 3 PCDHGA3 56112 ENSG00000254245 Pcdhga3 (MGI:1935215)
chr5 141350260 141512978 5q31 5q31.3 606299 PCDHGB1 Protocadherin-gamma, subfamily B, member 1 PCDHGB1 56104 ENSG00000254221 Pcdhgb1 (MGI:1935169)
chr5 141355024 141512978 5q31 5q31.3 606291 PCDHGA4 Protocadherin-gamma, subfamily A, member 4 PCDHGA4 56111 ENSG00000262576 Pcdhga4 (MGI:1935216)
chr5 141360135 141512978 5q31 5q31.3 606300 PCDHGB2 Protocadherin-gamma, subfamily B, member 2 PCDHGB2 56103 ENSG00000253910 Pcdhgb2 (MGI:1935170)
chr5 141364330 141512978 5q31 5q31.3 606292 PCDHGA5 Protocadherin-gamma, subfamily A, member 5 PCDHGA5 56110 ENSG00000253485 Pcdhga5 (MGI:1935217)
chr5 141370263 141512978 5q31 5q31.3 606301 PCDHGB3 Protocadherin-gamma, subfamily B, member 3 PCDHGB3 56102 ENSG00000262209 Pcdhgb8 (MGI:1935200)
chr5 141374083 141512978 5q31 5q31.3 606293 PCDHGA6 Protocadherin-gamma, subfamily A, member 6 PCDHGA6 56109 ENSG00000253731 Pcdhga6 (MGI:1935218)
chr5 141382738 141512978 5q31 5q31.3 606294 PCDHGA7 Protocadherin-gamma, subfamily A, member 7 PCDHGA7 56108 ENSG00000253537 Pcdhga7 (MGI:1935219)
chr5 141387884 141512978 5q31 5q31.3 603058 PCDHGB4 Protocadherin-gamma, subfamily B, member 4 PCDHGB4 8641 ENSG00000253953 Pcdhgb4 (MGI:1935173)
chr5 141391915 141512978 5q31 5q31.3 606295 PCDHGA8 Protocadherin-gamma, subfamily A, member 8 PCDHGA8 9708 ENSG00000253767 Pcdhga8 (MGI:1935221)
chr5 141398127 141512978 5q31 5q31.3 606302 PCDHGB5 Protocadherin-gamma, subfamily B, member 5 PCDHGB5 56101 ENSG00000276547 Pcdhgb5 (MGI:1935196)
chr5 141402952 141512978 5q31 5q31.3 606296 PCDHGA9 Protocadherin-gamma, subfamily A, member 9 PCDHGA9 56107 ENSG00000261934 Pcdhga9 (MGI:1935226)
chr5 141408202 141512978 5q31 5q31.3 606303 PCDHGB6 Protocadherin-gamma, subfamily B, member 6 PCDHGB6 56100 ENSG00000253305 Pcdhgb6 (MGI:1935197)
chr5 141413175 141512978 5q31 5q31.3 606297 PCDHGA10 Protocadherin-gamma, subfamily A, member 10 PCDHGA10 56106 ENSG00000253846 Pcdhga10 (MGI:1935227)
chr5 141417646 141512980 5q31 5q31.3 606304 PCDHGB7 Protocadherin-gamma, subfamily B, member 7 PCDHGB7 56099 ENSG00000254122 Pcdhgb7 (MGI:1935199)
chr5 141420969 141512978 5q31 5q31.3 606298 PCDHGA11 Protocadherin-gamma, subfamily A, member 11 PCDHGA11 56105 ENSG00000253873 Pcdhga11 (MGI:1935228)
chr5 141430590 141512978 5q31 5q31.3 603059 PCDHGA12 Protocadherin-gamma, subfamily A, member 12 PCDHGA12 26025 ENSG00000253159 Pcdhga12 (MGI:1935229)
chr5 141476001 141512976 5q31 5q31.3 603627 PCDHGC3 Protocadherin-gamma, subfamily C, member 3 PCDHGC3 5098 ENSG00000240184 Pcdhgc3 (MGI:1935201)
chr5 141485173 141512978 5q31 5q31.3 606305 PCDHGC4 Protocadherin-gamma, subfamily C, member 4 PCDHGC4 56098 ENSG00000242419 Pcdhgc4 (MGI:1935203)
chr5 141489240 141512978 5q31 5q31.3 606306 PCDHGC5 Protocadherin-gamma, subfamily C, member 5 PCDHGC5 56097 ENSG00000240764 Pcdhgc5 (MGI:1935205)
chr5 141515015 141619054 5q31 5q31.3 602121 DIAPH1, DFNA1, LFHL1, SCBMS Diaphanous, Drosophila, homolog of, 1 DIAPH1 1729 ENSG00000131504 Deafness, autosomal dominant 1, 124900 (3), Autosomal dominant; Seizures, cortical blindness, microcephaly syndrome, 616632 (3), Autosomal recessive Diaph1 (MGI:1194490)
chr5 141620875 141636855 5q31 5q31.3 605166 HDAC3 Histone deacetylase 3 HDAC3 8841 ENSG00000171720 Hdac3 (MGI:1343091)
chr5 141636949 141641076 5q31.3 5q31.3 611213 RELL2 Relt-like 2 RELL2 285613 ENSG00000164620 Rell2 (MGI:1918044)
chr5 141639301 141651442 5q31.3 5q31.3 617555 FCHSD1, NWK2 FCH and double SH3 domains protein 1 FCHSD1 89848 ENSG00000197948 Fchsd1 (MGI:2441771)
chr5 141653400 141682232 5q31.3 5q31.3 606647 ARAP3, CENTD3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 ARAP3 64411 ENSG00000120318 Arap3 (MGI:2147274)
chr5 141850392 141878409 5q32-q33 5q31.3 603626 PCDH1, PC42 Protocadherin 1 (cadherin-like 1) PCDH1 5097 ENSG00000156453 Pcdh1 (MGI:104692)
chr5 141923819 141952030 5q31.3 5q31.3 615741 KIAA0141, DELE KIAA0141 gene DELE1 9812 ENSG00000081791 0610009O20Rik (MGI:1914089)
chr5 141943584 141959061 5q31 5q31.3 605622 PCDH12, VECAD2, PCDH12 Protocadherin 12 (cadherin, vascular endothelial, 2) PCDH12 51294 ENSG00000113555 Microcephaly, seizures, spasticity, and brain calcification, 605622 (3) Pcdh12 (MGI:1855700)
chr5 141966806 141990290 5q23.3-q31.1 5q31.3 605675 RNF14, ARA54 RING finger protein-14 RNF14 9604 ENSG00000013561 Rnf14 (MGI:1929668)
chr5 142000668 142013054 5q31 5q31.3 601798 GNPDA1, GNP1, GNPI, KIAA0060 Glucosamine 6-phosphate deaminase 1 GNPDA1 10007 ENSG00000113552 Gnpda1 (MGI:1347054)
chr5 142108758 142154442 5q31.3 5q31.3 612050 NDFIP1, N4WBP5 NEDD4 family-interacting protein 1 NDFIP1 80762 ENSG00000131507 Ndfip1 (MGI:1929601)
chr5 142310426 142325054 5q31.3 5q31.3 607984 SPRY4, HH17 Sprouty, Drosophila, homolog of SPRY4 81848 ENSG00000187678 Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3), Autosomal dominant Spry4 (MGI:1345144)
chr5 142317619 142318321 5q31.3 5q31.3 617617 SPRY4IT1 SPRY4 intronic transcript 1, noncoding SPRY4-IT1 100642175 in intron 2 of SPRY4
chr5 142592177 142698069 5q31 5q31.3 131220 FGF1, FGFA Fibroblast growth factor-1 (acidic) FGF1 2246 ENSG00000113578 Fgf1 (MGI:95515)
chr5 142770369 143229010 5q31 5q31.3 605370 ARHGAP26, GRAF RHO GTPase-activating protein 26 ARHGAP26 23092 ENSG00000145819 Leukemia, juvenile myelomonocytic, somatic, 607785 (3) Arhgap26 (MGI:1918552)
chr5 143277930 143435511 5q31 5q31.3 138040 NR3C1, GCR, GRL, GCRST Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NR3C1 2908 ENSG00000113580 Glucocorticoid resistance, 615962 (3), Autosomal dominant Nr3c1 (MGI:95824)
chr5 143812160 143820718 5q32 5q31.3 609961 HLA-HB1 Minor histocompatibility antigen HB-1 HMHB1 57824 ENSG00000158497
chr5 144158158 144170713 5q32 5q31.3 611483 YIPF5, SMAP5, YIP1A Yip1 domain family, member 5 YIPF5 81555 ENSG00000145817 Yipf5 (MGI:1914430)
chr5 144170722 144485685 5q31.3 5q31.3 613423 KCTD16, KIAA1317 Potassium channel tetramerization domain-containing 16 KCTD16 57528 ENSG00000183775 Kctd16 (MGI:1914659)
chr5 145858537 145931672 5q32 5q32 615762 GRXCR2, DFNB101 Glutaredoxin, cysteine-rich, 2 GRXCR2 643226 ENSG00000204928 mutation identified in 1 DFNB101 family ?Deafness, autosomal recessive 101, 615837 (3), Autosomal recessive Grxcr2 (MGI:2685697)
chr5 145936562 146081772 5q32 5q32 613377 SH3RF2, HEPP1 SH3 domain-containing RING finger protein 2 SH3RF2 153769 ENSG00000156463 Sh3rf2 (MGI:2444628)
chr5 146113025 146182786 5q32 5q32 151350 LARS, LFIS, ILFS1 Leucyl-tRNA synthetase LARS 51520 ENSG00000133706 mutation identified in 1 family ?Infantile liver failure syndrome 1, 615438 (3), Autosomal recessive Lars (MGI:1913808)
chr5 146339023 146340519 5q31 5q32 602460 POU4F3, BRN3C POU domain, class 4, transcription factor-3 POU4F3 5459 ENSG00000091010 Deafness, autosomal dominant 15, 602459 (3), Autosomal dominant Pou4f3 (MGI:102523)
chr5 146447309 146511507 5q31 5q32 605409 TCERG1, TAF2S, CA150 Transcription elongation regulator 1 (transcription factor CA150) TCERG1 10915 ENSG00000113649 Tcerg1 (MGI:1926421)
chr5 146589503 147081519 5q31-q33 5q32 604325 PPP2R2B Protein phosphatase 2, regulatory subunit B, beta PPP2R2B 5521 ENSG00000156475 Spinocerebellar ataxia 12, 604326 (3), Autosomal dominant Ppp2r2b (MGI:1920180)
chr5 147390807 147510055 5q32 5q32 601168 DPYSL3, ULIP, DRP3 Dihydropyrimidinase-like 3 DPYSL3 1809 ENSG00000113657 Dpysl3 (MGI:1349762)
chr5 147585438 147782847 5q32 5q32 611197 JAKMIP2, JAMIP2, NECC1, KIAA0555 Janus kinase and microtubule-interacting protein 2 JAKMIP2 9832 ENSG00000176049 Jakmip2 (MGI:1923467)
chr5 147824579 147839230 5q32 5q32 167790 SPINK1, PSTI, PCTT, TATI, TCP Serine protease inhibitor, Kazal type I (pancreatic secretory trypsin inhibitor) SPINK1 6690 ENSG00000164266 {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3), Autosomal recessive, Autosomal dominant; Pancreatitis, hereditary, 167800 (3), Autosomal dominant; Tropical calcific pancreatitis, 608189 (3), Autosomal recessive, Autosomal dominant Spink1 (MGI:106202)
chr5 147878710 147882192 5q31-q34 5q32 606531 SCGB3A2, UGRP1 Secretoglobin, family 3A, member 2 (uteroglobin-related protein 1) SCGB3A2 117156 ENSG00000164265 {Asthma, susceptibility to}, 600807 (3), Autosomal dominant Scgb3a2 (MGI:2153470)
chr5 148063971 148137361 5q32 5q32 605010 SPINK5, LEKTI Serine protease inhibitor, Kazal type, 5 SPINK5 11005 ENSG00000133710 Netherton syndrome, 256500 (3), Autosomal recessive Spink5 (MGI:1919682)
chr5 148202793 148215136 5q32 5q32 615868 SPINK6 Serine peptidase inhibitor, KAZAL-type, 6 SPINK6 404203 ENSG00000178172
chr5 148268859 148286209 5q32 5q32 615205 SPINK13 Serine protease inhibitor, Kazal-type, 13 SPINK13 153218 ENSG00000214510 Spink13 (MGI:3642511)
chr5 148312426 148315918 5q32 5q32 617288 SPINK7, ECRG2 Serine peptidase inhibitor, Kazal-type, 7 SPINK7 84651 ENSG00000145879 Spink7 (MGI:3644691)
chr5 148323218 148341973 5q33.1 5q32 613511 SPINK9, LEKTI2 Serine protease inhibitor, Kazal-type, 9 SPINK9 643394 ENSG00000204909
chr5 148383934 148442835 5q33.1 5q32 608533 FBXO38, FBX38, MOKA, HMN2D F-box only protein 38 FBXO38 81545 ENSG00000145868 Neuronopathy, distal hereditary motor, type IID, 615575 (3), Autosomal dominant
chr5 148451031 148654526 5q31-q33 5q32 602164 HTR4 5-hydroxytryptamine (serotonin) receptor-4 HTR4 3360 ENSG00000164270 Htr4 (MGI:109246)
chr5 148826592 148828633 5q32-q34 5q32 109690 ADRB2 Adrenergic, beta-2-, receptor, surface ADRB2 154 {Asthma, nocturnal, susceptibility to}, 600807 (3), Autosomal dominant; Beta-2-adrenoreceptor agonist, reduced response to (3); {Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Adrb2 (MGI:87938)
chr5 148982149 149063173 5q32 5q32 608206 SH3TC2, KIAA1985, MNMN SH3 domain and tetratricopeptide repeat domain 2 SH3TC2 79628 ENSG00000169247 Charcot-Marie-Tooth disease, type 4C, 601596 (3), Autosomal recessive; Mononeuropathy of the median nerve, mild, 613353 (3), Autosomal dominant Sh3tc2 (MGI:2444417)
chr5 149141446 149260438 5q32 5q32 611305 ABLIM3, KIAA0843 Actin-binding LIM protein family, member 3 ABLIM3 22885 ENSG00000173210 Ablim3 (MGI:2442582)
chr5 149271837 149343636 5q33.1 5q32 614410 AFAP1L1 Actin filament-associated protein 1-like 1 AFAP1L1 134265 ENSG00000157510 Afap1l1 (MGI:2147199)
chr5 149374266 149404201 5q32-q34 5q32 604627 IL17B Interleukin 17B IL17B 27190 ENSG00000127743 Il17b (MGI:1928397)
chr5 149428917 149429022 5q33.1 5q32 612117 MIR143, MIRN143 Micro RNA 143 MIR143 406935
chr5 149430645 149430732 5q33.1 5q32 611795 MIR145, MIRN145 Micro RNA 145 MIR145 406937
chr5 149495893 149551551 5q32 5q32 600505 CSNK1A1 Casein kinase-1, alpha-1 polypeptide CSNK1A1 1452 ENSG00000113712 previously assigned to 13q13 Csnk1a1 (MGI:1934950)
chr5 149730251 149857860 5q33 5q32 608886 PPARGC1B, PGC1B, PERC Peroxisome proliferator-activated receptor-gamma, coactivator 1, beta PPARGC1B 133522 ENSG00000155846 {Obesity, variation in}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Ppargc1b (MGI:2444934)
chr5 149732824 149732889 5q33.1 5q32 611957 MIR378, MIRN378 Micro RNA 378 MIR378A 494327
chr5 149857955 149944792 5q31.2-q34 5q32 180071 PDE6A, PDEA, RP43 Phosphodiesterase-6A, cGMP-specific, rod, alpha PDE6A 5145 ENSG00000132915 Retinitis pigmentosa 43, 613810 (3) Pde6a (MGI:97524)
chr5 149960736 149987399 5q32-q33.1 5q32 606718 SLC26A2, DTD, DTDST, D5S1708, EDM4 Solute carrier family 26 (sulfate transporter), member 2 (diastrophic dysplasia sulfate transporter) SLC26A2 1836 ENSG00000155850 distal to APC Achondrogenesis Ib, 600972 (3), Autosomal recessive; Atelosteogenesis, type II, 256050 (3), Autosomal recessive; De la Chapelle dysplasia, 256050 (3), Autosomal recessive; Diastrophic dysplasia, 222600 (3), Autosomal recessive; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 4, 226900 (3), Autosomal recessive Slc26a2 (MGI:892977)
chr5 150021526 150022052 5q33-qter 5q32 180464 RPS20B Ribosomal protein S20B RPS20P4 6226 ?pseudogene
chr5 150053290 150113371 5q32 5q32 164770 CSF1R, FMS, HDLS Colony-stimulating factor-1 receptor; oncogene FMS (McDonough feline sarcoma) CSF1R 1436 ENSG00000182578 FMS2 is 5' end Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3), Autosomal dominant Csf1r (MGI:1339758)
chr5 150113838 150155858 5q32 5q32 173410 PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS Platelet-derived growth factor receptor, beta polypeptide PDGFRB 5159 ENSG00000113721 fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders Basal ganglia calcification, idiopathic, 4, 615007 (3), Autosomal dominant; Kosaki overgrowth syndrome, 616592 (3), Autosomal dominant; Myeloproliferative disorder with eosinophilia, 131440 (4), Autosomal dominant; Myofibromatosis, infantile, 1, 228550 (3), Autosomal dominant; Premature aging syndrome, Penttinen type, 601812 (3), Autosomal dominant Pdgfrb (MGI:97531)
chr5 150166780 150184557 5q31-q33 5q32 600746 CDX1 Caudal type homeo box transcription factor 1 CDX1 1044 ENSG00000113722 100kb distal to CSF1R Cdx1 (MGI:88360)
chr5 150189860 150211071 5q31-q32 5q32 606205 SLC6A7, PROT Solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 SLC6A7 6534 ENSG00000011083 Slc6a7 (MGI:2147363)
chr5 150219490 150289839 5q32 5q32 114078 CAMK2A, KIAA0968, CAMKA, MRD53 Calcium/calmodulin-dependent protein kinase II-alpha CAMK2A 815 ENSG00000070808 Mental retardation, autosomal dominant 53, 617798 (3), Autosomal dominant Camk2a (MGI:88256)
chr5 150296338 150302961 5q32 5q32 610009 ARSI Arylsulfatase I ARSI 340075 ENSG00000183876 Arsi (MGI:2670959)
chr5 150357638 150400307 5q32-q33.1 5q32-q33 606847 TCOF1, MFD1, TCS1 Treacle TCOF1 6949 ENSG00000070814 prox. to SPARC Treacher Collins syndrome 1, 154500 (3), Autosomal dominant Tcof1 (MGI:892003)
chr5 150400000 177100000 5q33.1-q35.2 613269 FECD5, FCD3 Corneal dystrophy, Fuchs endothelial, 5 100380874 flanked by D5S470 and D5S2108 Corneal dystrophy, Fuchs endothelial, 5, 613269 (2)
chr5 150401636 150412935 5q32 5q33.1 142790 CD74, DHLAG CD74 antigen (invariant polypeptide of major histocompatibility class II antigen-associated) CD74 972 ENSG00000019582 Cd74 (MGI:96534)
chr5 150444228 150449755 5q32 5q33.1 130620 RPS14, EMTB Ribosomal protein S14 RPS14 6208 ENSG00000164587 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3) Rps14 (MGI:98107)
chr5 150485782 150558210 5q32-q33.3 5q33.1 600853 NDST1, HSST, MRT46 N-deacetylase/N-sulfotransferase (heparan sulfate-N-deacetylase/N-sulfotransferase) NDST1 3340 ENSG00000070614 Mental retardation, autosomal recessive 46, 616116 (3), Autosomal recessive Ndst1 (MGI:104719)
chr5 150586025 150659229 5q33.1 5q33.1 608155 SYNPO Synaptopodin SYNPO 11346 ENSG00000171992 Synpo (MGI:1099446)
chr5 150660840 150679367 5q31 5q33.1 610735 MYOZ3, FRP3 Myozenin 3 MYOZ3 91977 ENSG00000164591 Myoz3 (MGI:2179296)
chr5 150690789 150701106 5q33.1 5q33.1 612430 RBM22 RNA-binding motif protein 22 RBM22 55696 ENSG00000086589 Rbm22 (MGI:1914060)
chr5 150708746 150759094 5q33.1 5q33.1 614758 DCTN4, P62, DYN4 Dynactin 4 DCTN4 51164 ENSG00000132912 Dctn4 (MGI:1914915)
chr5 150777945 150796735 5q32 5q33.1 608324 SMIM3, NID67 Small integral membrane protein 3 SMIM3 85027 ENSG00000256235 Smim3 (MGI:1917088)
chr5 150846522 150902401 5q33.1 5q33.1 608212 IRGM, LRG47, IFI1, IBD19 Immunity-related GTPase family, M IRGM 345611 ENSG00000237693 {Inflammatory bowel disease (Crohn disease) 19}, 612278 (3); {Mycobacterium tuberculosis, protection against}, 607948 (3) Irgm2 (MGI:1926262)
chr5 150892957 150904982 5q33.1 5q33.1 612429 ZNF300 Zinc finger protein 300 ZNF300 91975 ENSG00000145908
chr5 151020411 151028992 5q32-q33.1 5q33.1 138321 GPX3 Glutathione peroxidase-3, plasma GPX3 2878 ENSG00000211445 Gpx3 (MGI:105102)
chr5 151029942 151087659 5q32-q33.1 5q33.1 607714 TNIP1, NAF1, KIAA0113 TNFAIP3-interacting protein 1 TNIP1 10318 ENSG00000145901 Tnip1 (MGI:1926194)
chr5 151100705 151157881 5q32-q34 5q33.1 114070 ANXA6, CBP68 Annexin A6 (calcium-binding protein p68) ANXA6 309 ENSG00000197043 Anxa6 (MGI:88255)
chr5 151253051 151270393 5q31.3-q33.1 5q33.1 613109 GM2A GM2 ganglioside activator protein GM2A 2760 ENSG00000196743 pseudogene on chr.3 GM2-gangliosidosis, AB variant, 272750 (3), Autosomal recessive Gm2a (MGI:95762)
chr5 151314977 151347589 5q33.1 5q33.1 608331 SLC36A2, PAT2 Solute carrier family 36 (proton/amino acid symporter), member 2 SLC36A2 153201 ENSG00000186335 Hyperglycinuria, 138500 (3), Autosomal dominant; Iminoglycinuria, digenic, 242600 (3), Autosomal recessive, Digenic recessive Slc36a2 (MGI:1891430)
chr5 151411343 151556317 5q31-q33 5q33.1 606561 SLC36A1, LYAAT1, PAT1 Solute carrier family 36 (proton/amino acid symporter), member 1 (lysosomal amino acid transporter 1) SLC36A1 206358 ENSG00000123643 Slc36a1 (MGI:2445299)
chr5 151504091 151594821 5q32-q33 5q33.1 604269 FAT2, MEGF1, SCA45 Fat tumor suppressor, Drosophila, homolog of, 2 FAT2 2196 ENSG00000086570 Spinocerebellar ataxia 45, 617769 (3), Autosomal dominant Fat2 (MGI:2685369)
chr5 151661095 151687053 5q31.3-q32 5q33.1 182120 SPARC, ON, OI17 Osteonectin (secreted protein, acidic, cysteine-rich) SPARC 6678 ENSG00000113140 Osteogenesis imperfecta, type XVII, 616507 (3), Autosomal recessive Sparc (MGI:98373)
chr5 151742821 151758648 5q32 5q33.1 602270 ATOX1, HAH1 Antioxidant protein 1 (ATX, yeast, homolog of) ATOX1 475 ENSG00000177556 Atox1 (MGI:1333855)
chr5 151771914 151805353 5q33.1 5q33.1 608431 G3BP1, G3BP GTPase-activating protein SH3 domain-binding protein 1 G3BP1 10146 ENSG00000145907 G3bp1 (MGI:1351465)
chr5 151822512 151924835 5q32 5q33.1 138491 GLRA1, STHE, HKPX1 Glycine receptor, alpha-1 polypeptide GLRA1 2741 ENSG00000145888 Hyperekplexia, hereditary 1, autosomal dominant or recessive, 149400 (3), Autosomal recessive, Autosomal dominant Glra1 (MGI:95747)
chr5 152391540 152405278 5q33.1 5q33.1 605108 NMUR2, NMU2R, FM4 Neuromedin U receptor 2 NMUR2 56923 ENSG00000132911 Nmur2 (MGI:2441765)
chr5 153490523 153813872 5q33 5q33.2 138248 GRIA1, GLUR1 Glutamate receptor, ionotropic, AMPA 1 GRIA1 2890 ENSG00000155511 Gria1 (MGI:95808)
chr5 154038958 154057453 5q32-q33.3 5q33.2 600491 MFAP3 Microfibrillar-associated protein-3 MFAP3 4238 ENSG00000037749 Mfap3 (MGI:1924068)
chr5 154190734 154420983 5q33.2 5q33.2 608043 GALNT10, GalNAcT10 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 GALNT10 55568 ENSG00000164574 Galnt10 (MGI:1890480)
chr5 154445956 154461052 5q33.2 5q33.2 610398 SAP30L SAP30-like protein SAP30L 79685 ENSG00000164576 Sap30l (MGI:1354709)
chr5 154474971 154478263 5q33.2 5q33.2 602406 HAND1, EHAND Heart- and neural crest derivatives-expressed 1 HAND1 9421 ENSG00000113196 Hand1 (MGI:103577)
chr5 154682662 154817606 5q33.2 5q33.2 612059 LARP1, LARP, KIAA0731 La ribonucleoprotein domain family, member 1 LARP1 23367 ENSG00000155506 incorrectly mapped to chromosome 10 Larp1 (MGI:1890165)
chr5 154857951 154876791 5q31-q33 5q33.2 603731 CNOT8, CALIF, POP2 CCR4-NOT transcription complex, subunit 8 CNOT8 9337 ENSG00000155508 Cnot8 (MGI:1916375)
chr5 154887415 154938215 5q33.2 5q33.2 607005 GEMIN5 GEM-associated protein 5 GEMIN5 25929 ENSG00000082516 Gemin5 (MGI:2449311)
chr5 154941072 154969410 5q33 5q33.2 611835 MRPL22 Mitochondrial ribosomal protein L22 MRPL22 29093 ENSG00000082515 Mrpl22 (MGI:1333794)
chr5 155013754 155018131 5q33.1 5q33.2 609184 KIF4B Kinesin family member 4B KIF4B 285643 ENSG00000226650
chr5 155728635 156767787 5q33 5q33.2-q33.3 601411 SGCD, SGD, LGMD2F, CMD1L Sarcoglycan, delta (35kD dystrophin-associated glycoprotein) SGCD 6444 ENSG00000170624 mutant in Syrian hamster cardiomyopathy Cardiomyopathy, dilated, 1L, 606685 (3); Muscular dystrophy, limb-girdle, type 2F, 601287 (3), Autosomal recessive Sgcd (MGI:1346525)
chr5 156919281 156963254 5q33.2 5q33.3 610096 TIMED4, TIM4, SMUCKLER T-cell immunoglobulin and mucin domains-containing protein 4 TIMD4 91937 ENSG00000145850 Timd4 (MGI:2445125)
chr5 157028382 157069632 5q33.2 5q33.3 606518 HAVCR1, HAVCR Hepatitis A virus cellular receptor 1 HAVCR1 26762 ENSG00000113249
chr5 157085831 157109236 5q33.2 5q33.3 606652 TIM3 T-cell immunoglobulin- and mucin-domain-containing molecule HAVCR2 84868 ENSG00000135077 Havcr2 (MGI:2159682)
chr5 157138439 157142909 5q33.3 5q33.3 605045 MED7, CRSP9, CRSP33 Mediator complex subunit 7 MED7 9443 ENSG00000155868 Med7 (MGI:1913463)
chr5 157180895 157255184 5q32 5q33.3 186973 ITK, EMT, LPFS1 T-cell-specific tyrosine kinase; homolog of mouse T-cell itk/tsk tyrosine kinase ITK 3702 ENSG00000113263 Lymphoproliferative syndrome 1, 613011 (3), Autosomal recessive Itk (MGI:96621)
chr5 157266079 157395597 5q33.3 5q33.3 606323 CYFIP2 Cytoplasmic FMRP interacting protein 2 CYFIP2 26999 ENSG00000055163 Cyfip2 (MGI:1924134)
chr5 157460018 157474721 5q33 5q33.3 609383 NIPAL4, ICHYN, ARCI6 NIPA-like domain-containing 4 NIPAL4 348938 ENSG00000172548 Ichthyosis, congenital, autosomal recessive 6, 612281 (3), Autosomal recessive Nipal4 (MGI:2444671)
chr5 157477303 157575822 5q32-q33 5q33.3 603640 ADAM19, MLTNB A disintegrin and metalloproteinase domain-19 (meltrin-beta, mouse, homolog of) ADAM19 8728 ENSG00000135074 Adam19 (MGI:105377)
chr5 157743694 157760708 5q33.3 5q33.3 617910 LSM11 Lsm11, U7 small nuclear RNA-associated protein LSM11 134353 ENSG00000155858 Lsm11 (MGI:1919540)
chr5 157785742 157859174 5q33.3 5q33.3 607265 CLINT1, EPN4, EPNR, KIAA0171 Clathrin interactor 1 (epsin 4) CLINT1 9685 ENSG00000113282 Clint1 (MGI:2144243)
chr5 158695914 159099761 5q34 5q33.3 164343 EBF, OLF1 Early B-cell factor (olfactory neuronal transcription factor 1) EBF1 1879 ENSG00000164330 Ebf1 (MGI:95275)
chr5 159263066 159286039 5q33.3 5q33.3 609867 UBLCP1 Ubiquitin-like domain-containing CTD phosphatase 1 UBLCP1 134510 ENSG00000164332 Ublcp1 (MGI:1933105)
chr5 159314782 159330472 5q33.3 5q33.3 161561 IL12B, NKSF2, IMD29 Interleukin-12B (natural killer cell stimulatory factor-2, cytotoxic lymphocyte maturation factor-2, p40) IL12B 3593 ENSG00000113302 between GLR1 and GABRA1 Immunodeficiency 29, mycobacteriosis, 614890 (3), Autosomal recessive Il12b (MGI:96540)
chr5 159916732 159989204 5q33 5q33.3 104220 ADRA1B Adrenergic, alpha-1B-, receptor ADRA1B 147 ENSG00000170214 Adra1b (MGI:104774)
chr5 160009099 160065544 5q32-q33.2 5q33.3 601963 TTC1, TPR1 Tetratricopeptide repeat domain-1 TTC1 7265 ENSG00000113312 Ttc1 (MGI:1914077)
chr5 160043537 160120700 5q33.3 5q33.3 617823 PWWP2A PWWP domain-containing protein 2A PWWP2A 114825 ENSG00000170234 Pwwp2a (MGI:1918052)
chr5 160187366 160238721 5q23-q35 5q33.3 600422 FABP6, ILLBP Fatty acid-binding protein 6, ileal (gastrotropin) FABP6 2172 ENSG00000170231 Fabp6 (MGI:96565)
chr5 160393147 160400096 5q33.3 5q33.3 615253 C5orf54, ZBED8, BUSTER3 Chromosome 5 open reading frame 54 ZBED8 63920 ENSG00000221886
chr5 160421806 160428743 5q33 5q33.3 604147 PTTG1, EAP1, TUTR1 Pituitary tumor-transforming gene 1 PTTG1 9232 ENSG00000164611 Pttg1 (MGI:1353578)
chr5 160485351 160485449 5q33.3 5q33.3 610566 MIR146A, MIRN146A Micro RNA 146A MIR146A 406938
chr5 160500000 177100000 5q34-q35.2 608036 NIDDM4 Diabetes mellitus, noninsulin-dependent, 4 100188782 {Diabetes mellitus, noninsulin-dependent}, 125853 (2), Autosomal dominant
chr5 161288428 161548123 5q34-q35 5q34 600232 GABRB2, ICEE2 Gamma-aminobutyric acid (GABA) A receptor, beta-2 GABRB2 2561 ENSG00000145864 Epileptic encephalopathy, infantile or early childhood, 2, 617829 (3), Autosomal dominant Gabrb2 (MGI:95620)
chr5 161685651 161702591 5q31.1-q35 5q34 137143 GABRA6 Gamma-aminobutyric acid (GABA) A receptor, alpha-6 GABRA6 2559 ENSG00000145863 Gabra6 (MGI:95618)
chr5 161847190 161899958 5q34-q35 5q34 137160 GABRA1, EJM5, ECA4, EIEE19 Gamma-aminobutyric acid (GABA) A receptor, alpha-1 GABRA1 2554 ENSG00000022355 in same 200kb as GABRG2 {Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3); {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3); Epileptic encephalopathy, early infantile, 19, 615744 (3), Autosomal dominant Gabra1 (MGI:95613)
chr5 162067641 162155538 5q34 5q34 137164 GABRG2, GEFSP3, CAE2, ECA2 Gamma-aminobutyric acid (GABA) A receptor, gamma-2 GABRG2 2566 ENSG00000113327 in alpha/beta/gamma cluster {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3), Autosomal dominant; Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3), Autosomal dominant; Febrile seizures, familial, 8, 611277 (3), Autosomal dominant Gabrg2 (MGI:95623)
chr5 163437570 163445015 5q32-q34 5q34 601578 CCNG1 Cyclin G1 CCNG1 900 ENSG00000113328 Ccng1 (MGI:102890)
chr5 163460510 163491944 5q33.2 5q34 600936 HMMR Hyaluronan-mediated motility receptor (RHAMM) HMMR 3161 ENSG00000072571 {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant Hmmr (MGI:104667)
chr5 166979065 168264158 5q34 5q34 610119 TENM2, ODZ2, TNM2, KIAA1127 Teneurin transmembrane protein 2 TENM2 57451 ENSG00000145934 Tenm2 (MGI:1345184)
chr5 168292059 168472302 5q34-q35.2 5q34 610533 WWC1, KIBRA, KIAA0869, MEMRYQTL WW, C2, and coiled-coil domain-containing 1 WWC1 23286 ENSG00000113645 [Memory, enhanced, QTL], 615602 (3) Wwc1 (MGI:2388637)
chr5 168486457 168519305 5q34 5q34 107820 RARS, HLD9 Arginyl-tRNA synthetase RARS 5917 ENSG00000113643 Leukodystrophy, hypomyelinating, 9, 616140 (3), Autosomal recessive Rars (MGI:1914297)
chr5 168555622 168579608 5q35 5q34 606161 PANK3 Pantothenate kinase 3 PANK3 79646 ENSG00000120137 Pank3 (MGI:2387464)
chr5 168560895 168560972 5q34 5q34 613187 MIR103-1, MIRN103-1 Micro RNA 103-1 MIR103A1 406895
chr5 168661732 169301128 5q35 5q34-q35 603745 SLIT3, SLIL2, MEGF5 Slit, Drosophila, homolog of, 3 SLIT3 6586 ENSG00000184347 Slit3 (MGI:1315202)
chr5 168768145 168768254 5q34 5q34 616771 MIR218-2 Micro RNA 218-2 MIR218-2 407001 in intron of SLIT3
chr5 169000000 181538259 5q35 208100 AMCN, AMCN1 Arthrogryposis multiplex congenital, neurogenic AMCN 261 Arthrogryposis multiplex congenita, neurogenic, 208100 (2), Autosomal recessive
chr5 169000000 181538259 5q35 118840 CHR Chromate resistance (sulfate transport)
chr5 169583633 169604777 5q35.1 5q35.1 616401 SPDL1, CCDC99, SPINDLY Spindly apparatus coiled-coil protein 1 SPDL1 54908 ENSG00000040275 Spdl1 (MGI:1917635)
chr5 169637246 170083381 5q35.1 5q35.1 603122 DOCK2, IMD40 Dedicator of cytokinesis 2 DOCK2 1794 ENSG00000134516 Immunodeficiency 40, 616433 (3), Autosomal recessive Dock2 (MGI:2149010)
chr5 170105896 170109724 5q34 5q35.1 601093 FOXI1, FKHL10, FREAC6 Forkhead box I1 FOXI1 2299 ENSG00000168269 some patients have digenic mutations with SLC26A4 Enlarged vestibular aqueduct, 600791 (3), Autosomal recessive Foxi1 (MGI:1096329)
chr5 170246232 170297841 5q33.1-qter 5q35.1 601603 LCP2, SLP76 Lymphocyte cytosolic protein-2 (SH2 domain-containing leukocyte protein of 76kD) LCP2 3937 ENSG00000043462 Lcp2 (MGI:1321402)
chr5 170378160 170389676 5q34 5q35.1 603951 KCNMB1 Potassium large conductance calcium-activated channel, subfamily M, beta member 1 KCNMB1 3779 ENSG00000145936 {Hypertension, diastolic, resistance to}, 608622 (3), Autosomal dominant Kcnmb1 (MGI:1334203)
chr5 170782840 170814046 5q32-q33 5q35.1 602729 GABRP Gamma-aminobutyric acid receptor, pi GABRP 2568 ENSG00000094755 Gabrp (MGI:2387597)
chr5 170861881 171300014 5q34 5q35.1 606141 RANBP17 RAN-binding protein 17 RANBP17 64901 ENSG00000204764 Ranbp17 (MGI:1929706)
chr5 171309283 171312133 5q35.1 5q35.1 604640 TLX3, HOX11L2, RNX T-cell leukemia, homeobox 3 TLX3 30012 ENSG00000164438 activated in T-cell ALL Tlx3 (MGI:1351209)
chr5 171387115 171410883 5q35 5q35.1 164040 NPM1 Nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) NPM1 4869 ENSG00000181163 fused with RARA in APL Leukemia, acute myeloid, somatic, 601626 (3) Npm1 (MGI:106184)
chr5 171419662 171457625 5q34 5q35.1 603726 FGF18 Fibroblast growth factor-18 FGF18 8817 ENSG00000156427 Fgf18 (MGI:1277980)
chr5 171861548 172009603 5q35.1 5q35.1 605651 FBXW11, FBXW1B, BTRC2, BTRCP2 F-box and WD40 domain protein 11 FBXW11 23291 ENSG00000072803 Fbxw11 (MGI:2144023)
chr5 172042069 172188341 5q35.1 5q35.1 603919 STK10, LOK Serine/threonine protein kinase-10 STK10 6793 ENSG00000072786 Stk10 (MGI:1099439)
chr5 172209644 172283796 5q35 5q35.1 610174 UBTD2, DCUBP, MGC30022 Ubiquitin domain-containing protein 2 UBTD2 92181 ENSG00000168246 Ubtd2 (MGI:2444752)
chr5 172325180 172454522 5q35.1 5q35.1 613293 SH3PXD2B, TKS4, KIAA1295, FTHS SH3 and PX domains-containing protein 2B SH3PXD2B 285590 ENSG00000174705 Frank-ter Haar syndrome, 249420 (3), Autosomal recessive Sh3pxd2b (MGI:2442062)
chr5 172641265 172691539 5q31 5q35.1 615893 NEURL1B, NEUR2 Neuralized E3 ubiquitin protein ligase 1B NEURL1B 54492 ENSG00000214357 Neurl1b (MGI:3643092)
chr5 172768089 172771199 5q34 5q35.1 600714 DUSP1, CL100, PTPN10 Dual specificity phosphatase-1 DUSP1 1843 ENSG00000120129 Dusp1 (MGI:105120)
chr5 172983759 173034896 5q35.1 5q35.1 603931 ATP6V0E, ATP6H ATPase, H+ transporting, lysosomal 9kD V0 subunit e ATP6V0E1 8992 ENSG00000113732 previously mapped to Chr.2 Atp6v0e (MGI:1328318)
chr5 173020725 173020928 5q35.1 5q35.1 611331 SNORA74B Small nucleolar RNA, H/ACA box, 74B SNORA74B 677841 in intron 3 of ATP6V0E1
chr5 173056348 173139287 5q35.1 5q35.1 617109 CREBRF, LRF, C5orf41 CREB3 recruitment factor CREBRF 153222 ENSG00000164463 Crebrf (MGI:1924378)
chr5 173144441 173164386 5q35.1 5q35.1 603291 BNIP1, NIP1 BCL2/adenovirus E1B 19kD protein-interacting protein 1 BNIP1 662 ENSG00000113734 Bnip1 (MGI:109328)
chr5 173232103 173235320 5q34 5q35.1 600584 NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2 NK2 homeobox-5 gene NKX2-5 1482 ENSG00000183072 near border with 5q35 Atrial septal defect 7, with or without AV conduction defects, 108900 (3), Autosomal dominant; Conotruncal heart malformations, variable, 217095 (3); Hypoplastic left heart syndrome 2, 614435 (3), Autosomal dominant; Hypothyroidism, congenital nongoitrous, 5, 225250 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant; Ventricular septal defect 3, 614432 (3), Autosomal dominant Nkx2-5 (MGI:97350)
chr5 173300000 177100000 5q35.2 612886 MENOQ4 Menopause, natural, age at, QTL4 100302519 associated with rs365132, rs7718874, rs402511, rs691141, rs2278493 {Menopause, natural, age at, QTL4}, 612886 (2)
chr5 173314722 173329502 5q35.1 5q35.2 603665 STC2, STCRP Stanniocalcin 2 STC2 8614 ENSG00000113739 Stc2 (MGI:1316731)
chr5 173607144 173617071 5q35.2 5q35.2 616745 BOD1, FAM44B Biorientation of chromosomes in cell division 1 BOD1 91272 ENSG00000145919 Bod1 (MGI:1916806)
chr5 173888327 173960990 5q21 5q35.2 610607 CPEB4, KIAA1673 Cytoplasmic polyadenylation element-binding protein 4 CPEB4 80315 ENSG00000113742 Cpeb4 (MGI:1914829)
chr5 174045603 174109178 5q35.2 5q35.2 616752 HMP19, NSG2 Hypothalamus golgi apparatus-expressed protein, 19kD NSG2 51617 ENSG00000170091 Nsg2 (MGI:1202070)
chr5 174724495 174730898 5q34-q35 5q35.2 123101 MSX2, CRS2, HOX8 msh, Drosophila, homeo box homolog of, 2 MSX2 4488 ENSG00000120149 Craniosynostosis 2, 604757 (3), Autosomal dominant; Parietal foramina 1, 168500 (3), Autosomal dominant; Parietal foramina with cleidocranial dysplasia, 168550 (3), Autosomal dominant Msx2 (MGI:97169)
chr5 175440037 175444217 5q35.1 5q35.2 126449 DRD1 Dopamine receptor D1 DRD1 1812 ENSG00000184845 same 300kb fragment as GRL Drd1 (MGI:99578)
chr5 175478497 175529741 5q35.2 5q35.2 615569 SFXN1 Sideroflexin 1 SFXN1 94081 ENSG00000164466 Sfxn1 (MGI:2137677)
chr5 175796538 175884020 5q35.2 5q35.2 605033 CPLX2, CPX2 Complexin 2 CPLX2 10814 ENSG00000145920 Cplx2 (MGI:104726)
chr5 175959530 176034904 5q35.2 5q35.2 606929 THOC3, TEX1 THO complex 3 (Tex1, yeast, homolog of) THOC3 84321 ENSG00000051596 Thoc3 (MGI:1920916)
chr5 176383936 176388926 5q35.2 5q35.2 612861 NOP15, HSPC111 Nop16, S. cerevisiae, homolog of NOP16 51491 ENSG00000048162 Nop16 (MGI:107862)
chr5 176392454 176416568 5q35.2 5q35.2 118970 CLTB Clathrin, light polypeptide (Lcb) CLTB 1212 ENSG00000175416 previously mapped to chr. 4 Cltb (MGI:1921575)
chr5 176448327 176510073 5q35.2 5q35.2 616935 FAF2, ETEA, UBXD8, KIAA0887 Fas-associated factor family, member 2 FAF2 23197 ENSG00000113194 Faf2 (MGI:1923827)
chr5 176595801 176610129 5q35.2 5q35.2 611239 GPRIN1, GRIN1, KIAA1893 G protein-regulated inducer of neurite outgrowth 1 GPRIN1 114787 ENSG00000169258 Gprin1 (MGI:1349455)
chr5 176620083 176630560 5q35 5q35.2 602569 SNCB Synuclein, beta SNCB 6620 ENSG00000074317 Dementia, Lewy body, 127750 (3), Autosomal dominant Sncb (MGI:1889011)
chr5 176810558 176880897 5q35.2 5q35.2 607869 UNC5A, UNC5H1 UNC5, C. elegans, homolog of, A UNC5A 90249 ENSG00000113763 Unc5a (MGI:894682)
chr5 176880868 176899372 5q35.2 5q35.2 142570 HK3 Hexokinase-3, white cell HK3 3101 ENSG00000160883 Hk3 (MGI:2670962)
chr5 176905004 177022639 5q35 5q35.2 609433 UIMC1, RAP80 Ubiquitin interaction motif containing 1 UIMC1 51720 ENSG00000087206 Uimc1 (MGI:103185)
chr5 177022679 177081188 5q35.2 5q35.2 605308 ZNF346, JAZ Zinc finger protein 346 ZNF346 23567 ENSG00000113761 Zfp346 (MGI:1349417)
chr5 177086871 177098141 5q35.1-qter 5q35.2 134935 FGFR4 Fibroblast growth factor receptor-4 FGFR4 2264 ENSG00000160867 distal to DRD1 {Cancer progression/metastasis} (3) Fgfr4 (MGI:95525)
chr5 177131834 177300212 5q35 5q35.3 606681 NSD1, ARA267, STO, SOTOS1 Nuclear receptor binding SET domain protein 1 NSD1 64324 ENSG00000165671 fusion gene with NUP98 in AML Leukemia, acute myeloid, 601626 (1), Autosomal dominant; Sotos syndrome 1, 117550 (3), Autosomal dominant Nsd1 (MGI:1276545)
chr5 177301189 177303743 5q35.3 5q35.3 612415 RAB24 Ras-associated protein 24 RAB24 53917 ENSG00000169228 Rab24 (MGI:105065)
chr5 177303761 177306958 5q35.3 5q35.3 605733 PRELID1, PRELI, PX19 PRELI domain-containing protein 1 PRELID1 27166 ENSG00000169230 Prelid1 (MGI:1913744)
chr5 177305499 177312290 5q35.3 5q35.3 609450 MXD3, MAD3 MAX dimerization protein 3 MXD3 83463 ENSG00000213347 Mxd3 (MGI:104987)
chr5 177357670 177372600 5q35.3 5q35.3 602513 RGS14 Regulator of G protein signaling 14 RGS14 10636 ENSG00000169220 Rgs14 (MGI:1859709)
chr5 177384430 177412020 5q35 5q35.3 182309 SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2, HCINF2 Solute carrier family 34 (sodium phosphate cotransporter), member 1 SLC34A1 6569 ENSG00000131183 mutation identified in 1 FRTS2 family ?Fanconi renotubular syndrome 2, 613388 (3), Autosomal recessive; Hypercalcemia, infantile, 2, 616963 (3), Autosomal recessive; Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3), Autosomal dominant Slc34a1 (MGI:1345284)
chr5 177400106 177400635 5q35.2 5q35.3 612812 PFN3 Profilin 3 PFN3 345456 ENSG00000196570 Pfn3 (MGI:2178800)
chr5 177402137 177409575 5q33-qter 5q35.3 610619 F12, HAF, HAE3 Coagulation factor XII (Hageman factor) F12 2161 ENSG00000131187 Angioedema, hereditary, type III, 610618 (3), Autosomal dominant; Factor XII deficiency, 234000 (3), Autosomal recessive F12 (MGI:1891012)
chr5 177426495 177442848 5q35 5q35.3 600869 GRK6, GPRK6 G protein-coupled receptor kinase 6 GRK6 2870 ENSG00000198055 Grk6 (MGI:1347078)
chr5 177456611 177480367 5q35.3 5q35.3 126660 DBN1 Drebrin-1 DBN1 1627 ENSG00000113758 Dbn1 (MGI:1931838)
chr5 177483393 177497604 5q35.3 5q35.3 605903 PDLIM7, ENIGMA PDZ and LIM domain 7 (enigma) PDLIM7 9260 ENSG00000196923 Pdlim7 (MGI:1914649)
chr5 177501903 177510507 5q35.3 5q35.3 611435 DOK3, DOKL Docking protein 3 DOK3 79930 ENSG00000146094 Dok3 (MGI:1351490)
chr5 177511576 177517325 5q35.3 5q35.3 608170 DDX41, ABS, MPLPF DEAD/H box 41 DDX41 51428 ENSG00000183258 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3), Autosomal dominant Ddx41 (MGI:1920185)
chr5 177519788 177554584 5q35.3 5q35.3 615813 FAM193B, IRIZIO, KIAA1931 Family with sequence similarity 193, member B FAM193B 54540 ENSG00000146067
chr5 177600101 177610346 5q35.2-q35.3 5q35.3 604327 B4GALT7, XGALT1, XGPT1, EDSSPD1 Beta-1,4-galactosyltransferase 7 B4GALT7 11285 ENSG00000027847 Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3), Autosomal recessive B4galt7 (MGI:2384987)
chr5 177992234 177996241 5q 5q35.3 601538 PROP1, CPHD2 Prophet of Pit1, paired-like homeodomain transcription factor PROP1 5626 ENSG00000175325 Pituitary hormone deficiency, combined, 2, 262600 (3), Autosomal recessive Prop1 (MGI:109330)
chr5 178149462 178153959 5q35.3 5q35.3 606470 NOLA2, NHP2, DKCB2 Nucleolar protein family A, member 2 NHP2 55651 ENSG00000145912 Dyskeratosis congenita, autosomal recessive 2, 613987 (3), Autosomal recessive Nhp2 (MGI:1098547)
chr5 178207143 178232821 5q35.3 5q35.3 614683 PHYKPL, AGXT2L2, PHLU 5-phosphohydroxy-L-lysine phospho-lyase PHYKPL 85007 ENSG00000175309 mutation identified in 1 PHLU patient [?Phosphohydroxylysinuria], 615011 (3) Phykpl (MGI:1920197)
chr5 178237615 178590554 5q35 5q35.3 610043 COL23A1 Collagen, type XXIII, alpha-1 COL23A1 91522 ENSG00000050767 Col23a1 (MGI:2653243)
chr5 178602663 178627052 5q35 5q35.3 607969 CLK4 CDC-like kinase 4 CLK4 57396 ENSG00000113240 Clk4 (MGI:1098551)
chr5 178711520 178730701 5q35.3 5q35.3 602444 TCF17, KID1 Transcription factor-17 ZNF354A 6940 ENSG00000169131 Zfp354a (MGI:103172)
chr5 178978326 178995122 5q35 5q35.3 604096 GRM6, MGLUR6, CSNB1B Glutamate receptor, metabotropic, 6 GRM6 2916 ENSG00000113262 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3), Autosomal recessive Grm6 (MGI:1351343)
chr5 179110850 179345429 5q23 5q35.3 604539 ADAMTS2, NPI, EDSDERMS A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 2 (procollagen I N-proteinase) ADAMTS2 9509 ENSG00000087116 Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3), Autosomal recessive Adamts2 (MGI:1347356)
chr5 179550550 179610025 5q35.3 5q35.3 610327 RUFY1 RUN and FYVE domains-containing protein 1 RUFY1 80230 ENSG00000176783 Rufy1 (MGI:2429762)
chr5 179614177 179634783 5q35.3 5q35.3 601035 HNRPH1 Heterogeneous nuclear ribonucleoprotein H HNRNPH1 3187 ENSG00000169045 Hnrnph1 (MGI:1891925)
chr5 179678645 179731640 5q35 5q35.3 114217 CANX Calnexin CANX 821 ENSG00000127022 Canx (MGI:88261)
chr5 179732849 179777285 5q35 5q35.3 605424 MAML1 Mastermind, Drosophila, homolog of, 1 MAML1 9794 ENSG00000161021 Maml1 (MGI:1890504)
chr5 179793984 179796511 5q35 5q35.3 246530 LTC4S Leukotriene C4 synthase LTC4S 4056 ENSG00000213316 Leukotriene C4 synthase deficiency, 614037 (1), Autosomal recessive Ltc4s (MGI:107498)
chr5 179797596 179806976 5q35 5q35.3 604561 MGAT4B Alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B MGAT4B 11282 ENSG00000161013 Mgat4b (MGI:2143974)
chr5 179806387 179838077 5q35 5q35.3 601530 SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV Sequestosome 1 SQSTM1 8878 ENSG00000161011 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3), Autosomal dominant; Myopathy, distal, with rimmed vacuoles, 617158 (3), Autosomal dominant; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive; Paget disease of bone 3, 167250 (3), Autosomal dominant Sqstm1 (MGI:107931)
chr5 179837265 179858839 5q35.3 5q35.3 617154 MRNIP, C5orf45 MRN complex-interacting protein MRNIP 51149 ENSG00000161010 Mrnip (MGI:1915317)
chr5 180233593 180292070 5q35 5q35.3 602896 MAPK9, PRKM9, JNK2 Mitogen-activated protein kinase 9 MAPK9 5601 ENSG00000050748 Mapk9 (MGI:1346862)
chr5 180300689 180353386 5q34-q35 5q35.3 603865 GFPT2, GFAT2 Glutamine: fructose-6-phosphate amidotransferase 2 GFPT2 9945 ENSG00000131459 Gfpt2 (MGI:1338883)
chr5 180494372 180578404 5q35.3 5q35.3 608951 CNOT6, CCR4, KIAA1194 CCR4-NOT transcription complex, subunit 6 CNOT6 57472 ENSG00000113300 Cnot6 (MGI:2144529)
chr5 180590104 180591486 5q35 5q35.3 606500 SCGB3A1, HIN1 Secretoglobin, family 3A, member 1 SCGB3A1 92304 ENSG00000161055 Scgb3a1 (MGI:1915912)
chr5 180601505 180650297 5q35.3 5q35.3 136352 FLT4, VEGFR3, PCL, LMPH1A fms-related tyrosine kinase-4 (vascular endothelial growth factor receptor 3) FLT4 2324 ENSG00000037280 Hemangioma, capillary infantile, somatic, 602089 (3); Lymphedema, hereditary, IA, 153100 (3), Autosomal dominant Flt4 (MGI:95561)
chr5 180790540 180815634 5q35 5q35.3 160995 MGAT1, GLYT1 Mannosyl (alpha-1,3-)-glycoprotein beta-1,2, N-acetylglucosaminyltransferase MGAT1 4245 ENSG00000131446 Mgat1 (MGI:96973)
chr5 180843579 180861326 5q35.3 5q35.3 610281 ZFP62 Zinc finger protein 62 ZFP62 643836 ENSG00000196670 Zfp62 (MGI:99662)
chr5 180899076 180952165 5q35.3 5q35.3 615606 BTNL8, BTN9.2 Butyrophilin-like protein 8 BTNL8 79908 ENSG00000113303
chr5 180988844 181006726 5q35 5q35.3 606192 BTNL3 Butyrophilin-like protein 3 BTNL3 10917 ENSG00000168903
chr5 181097069 181097141 5q35.3 5q35.3 612995 TRV-CAC1-2, TRNAV2, TRV2 Transfer RNA valine (CAC) 1-2 TRV-CAC1-2 7240
chr5 181188853 181188924 5q35.3 5q35.3 189912 TRP-TGG3-5, TRNAP3, TRP3 Transfer RNA-Pro (TGG) 3-5 TRP-TGG3-1 7219
chr5 181191686 181191757 5q35.3 5q35.3 189913 TRT-TGT6-1, TRNAT1, TRT1 Transfer RNA-Thr (TGT) 6-1 TRT-TGT6-1 7236
chr5 181193923 181218331 5q35.3 5q35.3 609315 TRIM7, GNIP Tripartite motif-containing protein 7 TRIM7 81786 ENSG00000146054 Trim7 (MGI:2137353)
chr5 181218269 181218341 5q35.3 5q35.3 189921 TRV-AAC1-4, TRNAV1, TRV1 Transfer RNA valine (AAC) 1-4 TRV-AAC1-4 7239
chr5 181221978 181222050 5q35.3 5q35.3 612996 TRK-CTT2-4, TRNAK2, TRK2 Transfer RNA lysine (CTT) 2-4 TRK-CTT2-3 790966
chr5 181223262 181235807 5q35.3 5q35.3 610530 TRIM41 Tripartite motif-containing 41 TRIM41 90933 ENSG00000146063 Trim41 (MGI:2384814)
chr5 181236927 181243905 5q35.3 5q35.3 176981 GNB2L1, RACK1 Guanine nucleotide-binding protein, beta-2-like 1 RACK1 10399 ENSG00000204628 Rack1 (MGI:101849)
chr6 0 7100000 6p25 612558 CLLS4 Leukemia, chronic lymphocytic susceptibility to, 4 100270643 associated with rs872071 {Leukemia, chronic lymphocytic susceptibility to, 4}, 612558 (2)
chr6 0 59800000 6p 122550 CSCI Corticosterone side-chain isomerase 7944 ?linked to MHC
chr6 0 13400000 6pter-p24 612582 DEL6pter, C6DELpter Chromosome 6pter-p24 deletion syndrome Chromosome 6pter-p24 deletion syndrome, 612582 (4), Isolated cases
chr6 0 25200000 6p25.3-p22.3 610294 INTLQ3 Intelligence quantitative trait locus 3 100462722 {Intelligence QTL3}, 610294 (2)
chr6 0 7100000 6p25 608545 LRSL Larsen-like syndrome 406214 Larsen-like syndrome, 608545 (2), Isolated cases
chr6 292056 351354 6p25.3 6p25.3 616778 DUSP22, LMWDSP2, MKPX, VHX, JKAP, JSP1 Dual-specificity phosphatase 22 DUSP22 56940 ENSG00000112679 Dusp22 (MGI:1915926)
chr6 391738 411442 6p25-p23 6p25.3 601900 IRF4, LSIRF, SHEP8 Interferon regulatory factor-4 IRF4 3662 ENSG00000137265 dysregulated in t(6;14) [Skin/hair/eye pigmentation, variation in, 8], 611724 (3) Irf4 (MGI:1096873)
chr6 485137 693140 6p25.3 6p25.3 615329 EXOC2, SEC5L1, SEC5 Exocyst complex component 2 EXOC2 55770 ENSG00000112685 Exoc2 (MGI:1913732)
chr6 655938 656963 6p25.3-p25.1 6p25.3 609713 HUS1B Hydroxyurea-sensitive 1, S. pombe, homolog of, B HUS1B 135458 ENSG00000188996 Hus1b (MGI:2671003)
chr6 1312439 1314757 6p25 6p25.3 612788 FOXQ1, HFH1 Forkhead box Q1 FOXQ1 94234 ENSG00000164379 Foxq1 (MGI:1298228)
chr6 1389833 1395596 6p25.3 6p25.3 603250 FOXF2, FKHL6, FREAC2 Forkhead box F2 FOXF2 2295 ENSG00000137273 Foxf2 (MGI:1347479)
chr6 1605530 1607357 6p25 6p25.3 615976 FOXCUT, LINC01379 FOXC1 upstream transcript, noncoding FOXCUT 101927703
chr6 1610445 1613896 6p25 6p25.3 601090 FOXC1, FKHL7, FREAC3, IRID1, RIEG3, ASGD3 Forkhead, Drosophila, homolog-like 7 FOXC1 2296 ENSG00000054598 Anterior segment dysgenesis 3, multiple subtypes, 601631 (3), Autosomal dominant; Axenfeld-Rieger syndrome, type 3, 602482 (3), Autosomal dominant Foxc1 (MGI:1347466)
chr6 1623799 2245633 6p25 6p25.3 602884 GMDS GDP-mannose 4,6-dehydratase GMDS 2762 ENSG00000112699 Gmds (MGI:1891112)
chr6 2765340 2785744 6p25.2 6p25.2 608196 WRNIP1, WHIP Werner helicase-interacting protein 1 WRNIP1 56897 ENSG00000124535 Wrnip1 (MGI:1926153)
chr6 2832331 2842048 6pter-p24 6p25.2 130135 ELANH2, EI Protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived SERPINB1 1992 ENSG00000021355 Serpinb1a (MGI:1913472)
chr6 2887264 2903317 6p25 6p25.2 601799 PI9, CAP3, SERPINB9 Protease inhibitor 9, ovalbumin type SERPINB9 5272 ENSG00000170542 Serpinb9 (MGI:106603)
chr6 2948158 2972164 6p25 6p25.2 173321 SERPINB6, PI6, PTI, SPI3, DFNB91 Protease inhibitor 6 (placental thrombin inhibitor) SERPINB6 5269 ENSG00000124570 mutation identified in 1 DFNB91 family ?Deafness, autosomal recessive 91, 613453 (3), Autosomal recessive Serpinb6a (MGI:103123)
chr6 2999815 3019875 6p25 6p25.2 160998 NQO2, NMOR2 NAD(P)H dehydrogenase, quinone 2 (NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2) NQO2 4835 ENSG00000124588 {?Breast cancer susceptibility}, 114480 (1), Autosomal dominant Nqo2 (MGI:104513)
chr6 3063840 3115191 6p25.2 6p25.2 603453 RIPK1, RIP1, RIP Receptor-interacting serine/threonine kinase 1 RIPK1 8737 ENSG00000137275 Ripk1 (MGI:108212)
chr6 3118375 3153598 6p25 6p25.2 603156 BPHL Biphenyl hydrolase-like BPHL 670 ENSG00000137274 Bphl (MGI:1915271)
chr6 3153665 3157548 6p25.2 6p25.2 615101 TUBB2A, CDCBM5 Tubulin, beta-2A TUBB2A 7280 ENSG00000137267 Cortical dysplasia, complex, with other brain malformations 5, 615763 (3), Autosomal dominant Tubb2a (MGI:107861)
chr6 3224260 3227733 6p25.2 6p25.2 612850 TUBB2B, CDCBM7 Tubulin, beta-2B TUBB2B 347733 ENSG00000137285 TUBB2A is 70kb telomeric to TUBB2B Cortical dysplasia, complex, with other brain malformations 7, 610031 (3), Autosomal dominant Tubb2b (MGI:1920960)
chr6 3254324 3308223 6p25.2 6p25.2 617550 PSMG4, PAC4, C6orf86 Proteasome assembly chaperone 4 PSMG4 389362 ENSG00000180822 Psmg4 (MGI:1916916)
chr6 3268972 3456573 6p25.2 6p25.2 611697 SLC22A23, C6orf85 Solute carrier family 22, member 23 SLC22A23 63027 ENSG00000137266 Slc22a23 (MGI:1920352)
chr6 3831900 3851319 6p25.2 6p25.2 614686 FAM60B, X5L Family with sequence similarity 50, member B FAM50B 26240 ENSG00000145945 Fam50b (MGI:1351640)
chr6 4021328 4064982 6p25.2 6p25.2 602338 PRPF4B, PRP4 Pre-mRNA processing factor 4, yeast, homolog of, B PRPF4B 8899 ENSG00000112739 Prpf4b (MGI:109584)
chr6 4115692 4135596 6p25.2 6p25.2 608024 ECI2, PECI, DRS1 Enoyl-CoA delta isomerase 2 ECI2 10455 ENSG00000198721 Eci2 (MGI:1346064)
chr6 4706158 4955543 6p25.1 6p25.1 603778 CDYL Chromodomain protein on Y chromosome-like CDYL 9425 ENSG00000153046 Cdyl (MGI:1339956)
chr6 4992404 5004062 6p25.1 6p25.1 606117 RPP40 Ribonuclease P, 40kD subunit RPP40 10799 ENSG00000124787 Rpp40 (MGI:1346084)
chr6 5031028 5260949 6p25.1 6p25.1 613311 LYRM4, ISD11, C6orf149, COXPD19 LYR motif-containing protein 4 LYRM4 57128 ENSG00000214113 mutation identified in 1 family ?Combined oxidative phosphorylation deficiency 19, 615595 (3), Autosomal recessive Lyrm4 (MGI:2683538)
chr6 5261000 5771591 6p25.1 6p25.1 611592 FARS2, FARS1, COXPD14, SPG77 Phenylalanyl-tRNA synthetase 2, mitochondrial FARS2 10667 ENSG00000145982 Combined oxidative phosphorylation deficiency 14, 614946 (3), Autosomal recessive; Spastic paraplegia 77, autosomal recessive, 617046 (3), Autosomal recessive Fars2 (MGI:1917205)
chr6 5997998 6007604 6p25.1 6p25.1 607409 NRN1, NRN Neuritin 1 NRN1 51299 ENSG00000124785 Nrn1 (MGI:1915654)
chr6 6144077 6320690 6p25-p24 6p25.1 134570 F13A1, F13A Coagulation factor XIII, A polypeptide F13A1 2162 ENSG00000124491 Factor XIIIA deficiency, 613225 (3), Autosomal recessive; {Myocardial infarction, protection against}, 608446 (3); {Venous thrombosis, protection against}, 188050 (3), Autosomal dominant F13a1 (MGI:1921395)
chr6 6588638 6654982 6p25.1 6p25.1 605241 LY86, MD1 Lymphocyte antigen 86 LY86 9450 ENSG00000112799 Ly86 (MGI:1321404)
chr6 7100000 10600000 6p24.3 119530 OFC1, CL Orofacial cleft-1 (cleft lip with or without cleft palate; isolated cleft palate) OFC1 4963 probable heterogeneity Orofacial cleft-1, 119530 (2), Autosomal dominant
chr6 7107596 7251979 6p25 6p24.3 602209 RREB1 RAS-responsive element binding protein-1 RREB1 6239 ENSG00000124782 Rreb1 (MGI:2443664)
chr6 7281142 7313313 6p24.3 6p24.3 600868 SSR1 Signal sequence receptor, alpha SSR1 6745 ENSG00000124783 Ssr1 (MGI:105082)
chr6 7326653 7389708 6p25.3-p24.1 6p24.3 608304 CTAG3, CAGE1 Cancer/testis antigen 3 CAGE1 285782 ENSG00000164304 Cage1 (MGI:1918463)
chr6 7389828 7418036 6p24.3 6p24.3 617753 RIOK1, RIO1 RIO kinase 1 RIOK1 83732 ENSG00000124784 Riok1 (MGI:1918590)
chr6 7541574 7586716 6p24 6p24.3 125647 DSP, KPPS2, PPKS2, DCWHKTA Desmoplakin DSP 1832 ENSG00000096696 splice variants result in DP I and DP II Arrhythmogenic right ventricular dysplasia 8, 607450 (3), Autosomal dominant; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3), Autosomal recessive; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3), Autosomal dominant; Epidermolysis bullosa, lethal acantholytic, 609638 (3), Autosomal recessive; Keratosis palmoplantaris striata II, 612908 (3); Skin fragility-woolly hair syndrome, 607655 (3), Autosomal recessive Dsp (MGI:109611)
chr6 7726098 7881727 6p24-p23 6p24.3 112266 BMP6 Bone morphogenetic protein-6 BMP6 654 ENSG00000153162 Bmp6 (MGI:88182)
chr6 7881513 7910813 6p25.2 6p24.3 616412 TXNDC5, ERP46, ENDOPDI, HCC2 Thioredoxin domain-containing protein 5 TXNDC5 81567 ENSG00000239264 Txndc5 (MGI:2145316)
chr6 8013566 8064413 6p24.3 6p24.3 607289 BLOC1S5, BLOS5, MUTED Biogenesis of lysosome-related organelles complex 1, subunit 5 BLOC1S5 63915 ENSG00000188428 Bloc1s5 (MGI:2178598)
chr6 8073359 8102594 6p25.1-p23 6p24.3 609206 EEF1E1 Eukaryotic translation elongation factor 1, epsilon-1 EEF1E1 9521 ENSG00000124802 Eef1e1 (MGI:1913393)
chr6 8413065 8436168 6p24.3 6p24.3 610845 SLC35B3, PAPST2 Solute carrier family 25 (3'-phosphoadenosine 5'-phosphosulfate transporter), member B3 SLC35B3 51000 ENSG00000124786 Slc35b3 (MGI:1913978)
chr6 8652208 8653845 6p24.3 6p24.3 612210 HULC Highly upregulated in liver cancer HULC 728655
chr6 9850415 10211607 6p24 6p24.3 614287 OFCC1, MRDS1 OFC1 candidate gene 1 OFCC1 266553 Ofcc1 (MGI:2658851)
chr6 10396676 10419896 6p24 6p24.3 107580 TFAP2A, AP2TF, BOFS Transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha) TFAP2A 7020 ENSG00000137203 Branchiooculofacial syndrome, 113620 (3), Autosomal dominant Tfap2a (MGI:104671)
chr6 10404501 10407926 6p24.3 6p24.3 617136 HIPSTR Long noncoding RNA HIPSTR TFAP2A-AS2 109729173 overlaps TFAP2A
chr6 10521282 10629367 6p24-p23 6p24.3-p24.2 600429 GCNT2, Ii, CTRCT13 Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme GCNT2 2651 ENSG00000111846 previously assigned to 9q21 Adult i phenotype without cataract, 110800 (3), Autosomal dominant; [Blood group, Ii], 110800 (3), Autosomal dominant; Cataract 13 with adult i phenotype, 116700 (3), Autosomal recessive Gcnt2 (MGI:1100870)
chr6 10690864 10709781 6p24.2 6p24.2 607811 PAK1IP1, PIP1 PAK1-interacting protein PAK1IP1 55003 ENSG00000111845 Pak1ip1 (MGI:1915333)
chr6 10722914 10731128 6p24.3 6p24.2 615318 TMEM14C Transmembrane protein 14C TMEM14C 51522 ENSG00000111843 Tmem14c (MGI:1913404)
chr6 10762722 10838953 6p24.2 6p24.2 154235 MAK, RP62 Male germ cell-associated kinase MAK 4117 ENSG00000111837 Retinitis pigmentosa 62, 614181 (3), Autosomal recessive Mak (MGI:96913)
chr6 10873222 10881864 6p24.2 6p24.2 603716 GCM2, GCMB, HRPT4 Glial cells missing, Drosophila, homolog of, 2 GCM2 9247 ENSG00000124827 Hyperparathyroidism 4, 617343 (3), Autosomal dominant; Hypoparathyroidism, familial isolated, 146200 (3), Autosomal dominant Gcm2 (MGI:1861438)
chr6 10886830 10974308 6p24.2 6p24.2 616799 SYCP2L, C6orf177 Synaptonemal complex protein 2-like SYCP2L 221711 ENSG00000153157 Sycp2l (MGI:2685114)
chr6 10980758 11044390 6p24.2 6p24.2 611814 ELOVL2, SSC2 Elongation of very long chain fatty acids-like 2 ELOVL2 54898 ENSG00000197977 Elovl2 (MGI:1858960)
chr6 11102488 11111837 6p24.1 6p24.2 610524 ERVFRD-1 Endogenous retrovirus group FRD, member 1 ERVFRD-1 405754 ENSG00000244476 Synb (MGI:3045308)
chr6 11183297 11382347 6p24.2 6p24.2 602265 NEDD9, HEF1, CASL Neural precursor cell expressed, developmentally downregulated 9 NEDD9 4739 ENSG00000111859 Nedd9 (MGI:97302)
chr6 11600000 25200000 6p24.1-p22.3 607017 DFNA21 Deafness, autosomal dominant 21 DFNA21 192644 previously mapped to 6p21.3 Deafness, autosomal dominant 21, 607017 (2), Autosomal dominant
chr6 11713522 11779627 6p24.1 6p24.1 614348 C6orf105, ADTRP Chromosome 6 open reading frame 105 (androgen-dependent TFPI-regulating protein) ADTRP 84830 ENSG00000111863 Adtrp (MGI:1924596)
chr6 12002095 12212033 6p24-p22.3 6p24.1 194540 HIVEP1, ZNF40 Human immunodeficiency virus type I enhancer-binding protein-1 HIVEP1 3096 ENSG00000095951 Hivep1 (MGI:96100)
chr6 12256462 12297193 6p24-p23 6p24.1 131240 EDN1, ARCND3, QME, HDLCQ7 Endothelin-1 EDN1 1906 ENSG00000078401 Auriculocondylar syndrome 3, 615706 (3), Autosomal recessive; {High density lipoprotein cholesterol level QTL 7} (3); Question mark ears, isolated, 612798 (3), Autosomal dominant Edn1 (MGI:95283)
chr6 12716634 13290461 6p24.1 6p24.1 608723 PHACTR1, KIAA1733 Phosphatase and actin regulator 1 PHACTR1 221692 ENSG00000112137 Phactr1 (MGI:2659021)
chr6 13304950 13328582 6p24.1 6p24.1 612655 TBC1D7, PIG51, TBC7, MGCPH TBC1 domain family, member 7 TBC1D7 51256 ENSG00000145979 Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3), Autosomal recessive Tbc1d7 (MGI:1914296)
chr6 13400000 15200000 6p23 611456 ETM3 Tremor, hereditary essential, 3 101027378 max lod at D6S1630 and D6S1605 Essential tremor, hereditary, 3, 611456 (2)
chr6 13400000 46200000 6p23-p21 271250 SCAR3, SCABD Spinocerebellar ataxia, autosomal recessive 3 SCAR3 85502 Spinocerebellar ataxia, autosomal recessive 3, 271250 (2), Autosomal recessive
chr6 13400000 15200000 6p23 600511 SCZD3 Schizophrenia susceptibility locus, chromosome 6-related SCZD3 6365 ?same as DTNBP1; cognitive deficit type {Schizophrenia}, 181500 (2), Autosomal dominant
chr6 13574216 13615157 6p23 6p23 604483 SIRT5 Sirtuin, S. cerevisiae, homolog 5 SIRT5 23408 ENSG00000124523 Sirt5 (MGI:1915596)
chr6 13615326 13632469 6p23 6p23 611533 NOL7 Nucleolar protein 7 NOL7 51406 ENSG00000225921 Nol7 (MGI:1917328)
chr6 13621497 13711581 6p23 6p23 603854 RANBP9, RANBPM RAN-binding protein 9 RANBP9 10048 ENSG00000010017 Ranbp9 (MGI:1928741)
chr6 13786548 13814993 6p23 6p23 616952 MCUR1, CCDC90A, FMP32 Mitochondrial calcium uniporter regulator 1 MCUR1 63933 ENSG00000050393 Mcur1 (MGI:1923387)
chr6 14117255 14136917 6p23 6p23 604534 CD83, HB15, BL11 CD83 antigen CD83 9308 ENSG00000112149 Cd83 (MGI:1328316)
chr6 15200000 30500000 6p22 612368 ALPQTL3 Alkaline phosphatase, plasma level of, QTL 3 100196915 linkage with rs9467160 {Alkaline phosphatase, plasma level of, QTL3}, 612368 (2)
chr6 15200000 25200000 6p22.3 615192 BWQTL4 Birth weight quantitative trait locus 4 101448071 associated with rs7756992 [Birth weight QTL4], 615192 (2)
chr6 15200000 25200000 6p22.3 613290 CIHL Hearing loss, cisplatin-induced, susceptibility to 100381207 associated with rs12201199 {?Hearing loss, cisplatin-induced, susceptibility to}, 613290 (2)
chr6 15200000 27100000 6p22.3-p22.2 603209 CMAHP, CMAH Cytidine monophospho-N-acetylneuraminic acid hydroxylase pseudogene CMAHP 8418 mutation inactivates gene in humans
chr6 15200000 46200000 6p22-p21 600202 DYX2 Dyslexia, susceptibility to, 2 ?between D6S105 and TNFB {Dyslexia, susceptibility to, 2}, 600202 (2), Autosomal dominant
chr6 15200000 30500000 6p22 613015 NBLST4 Neuroblastoma, susceptibility to, 4 100306937 associated with rs6939340, rs4712653, rs9295536 {Neuroblastoma, susceptibility to, 4}, 613015 (2)
chr6 15200000 36600000 6p22.3-p21.3 608244 OTSC3 Otosclerosis 3 OTSC3 170532 Otosclerosis 3, 608244 (2), Autosomal dominant
chr6 15200000 46200000 6p22.3-p21.1 601431 TRNAA1 tRNA alanine-1 TRA-TGC7-1 7154
chr6 15245974 15522041 6p24-p23 6p22.3 601594 JMJ Jumonji JARID2 3720 ENSG00000008083 Jarid2 (MGI:104813)
chr6 15522800 15663057 6p22.3 6p22.3 607145 DTNBP1, HPS7 Dystrobrevin-binding protein 1 (dysbindin) DTNBP1 84062 ENSG00000047579 Hermansky-Pudlak syndrome 7, 614076 (3), Autosomal recessive Dtnbp1 (MGI:2137586)
chr6 16129085 16151014 6p23-p22.3 6p22.3 610082 MYLIP, MIR Myosin regulatory light chain-interacting protein MYLIP 29116 ENSG00000007944 Mylip (MGI:2388271)
chr6 16238579 16295548 6p23 6p22.3 139265 GMPR, GMPR1 Guanosine monophosphate reductase GMPR 2766 ENSG00000137198 Gmpr (MGI:1913605)
chr6 16299111 16761489 6p23 6p22.3 601556 ATXN1, ATX1, SCA1 Ataxin-1 ATXN1 6310 ENSG00000124788 Spinocerebellar ataxia 1, 164400 (3), Autosomal dominant Atxn1 (MGI:104783)
chr6 17281507 17293874 6p22.3 6p22.3 617603 RBM24, RNPC6 RNA-binding motif protein 24 RBM24 221662 ENSG00000112183 Rbm24 (MGI:3610364)
chr6 17615034 17706833 6p22.3 6p22.3 603948 NUP153 Nucleoporin, 153kD NUP153 9972 ENSG00000124789 Nup153 (MGI:2385621)
chr6 17759182 17987622 6p22.3 6p22.3 605433 KIF13A Kinesin family member 13A KIF13A 63971 ENSG00000137177 Kif13a (MGI:1098264)
chr6 18120486 18122619 6p22.3 6p22.3 608072 NHLRC1, EPM2A, EPM2B NHL repeat-containing 1 gene (malin) NHLRC1 378884 ENSG00000187566 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3), Autosomal recessive Nhlrc1 (MGI:2145264)
chr6 18128310 18155168 6p22.3 6p22.3 187680 TPMT, TPMTD Thiopurine S-methyltransferase TPMT 7172 ENSG00000137364 {Thiopurines, poor metabolism of, 1}, 610460 (3), Autosomal recessive Tpmt (MGI:98812)
chr6 18155387 18223852 6p22.3 6p22.3 613081 KDM1B, LSD2, AOF1 Lysine-specific demethylase 1B KDM1B 221656 ENSG00000165097
chr6 18224168 18264567 6p23 6p22.3 125264 DEK, D6S231E DEK oncogene DEK 7913 ENSG00000124795 fused with CAN in t(6;9) Leukemia, acute nonlymphocytic, 125264 (2) Dek (MGI:1926209)
chr6 19837369 19842199 6p22-p21.3 6p22.3 600581 ID4 Inhibitor of DNA binding 4, dominant negative helix-loop-helix protein ID4 3400 ENSG00000172201 Id4 (MGI:99414)
chr6 20099683 20212463 6p23 6p22.3 611732 MBOAT1 Membrane-bound O-acetyltransferase domain-containing 1 MBOAT1 154141 ENSG00000172197 Mboat1 (MGI:2387184)
chr6 20401905 20493713 6p22 6p22.3 600427 E2F3 E2F transcription factor 3 E2F3 1871 ENSG00000112242 E2f3 (MGI:1096340)
chr6 20534456 21232403 6p22.3 6p22.3 611259 CDKAL1 CDK5 regulatory subunit-associated protein 1-like 1 CDKAL1 54901 ENSG00000145996 Cdkal1 (MGI:1921765)
chr6 21593740 21598618 6p22.3 6p22.3 184430 SOX4 SRY (sex determining region Y)-box 4 SOX4 6659 ENSG00000124766 Sox4 (MGI:98366)
chr6 21666412 22195819 6p22.3 6p22.3 616610 CASC15, LINC00340 Cancer susceptibility candidate 15, noncoding CASC15 401237
chr6 22134601 22147192 6p22 6p22.3 616206 NBAT1 Neuroblastoma-associated transcript 1, noncoding NBAT1 729177
chr6 22287243 22302896 6p22.2-p21.3 6p22.3 176760 PRL Prolactin PRL 5617 ENSG00000172179 ?between 6cen and GLO1 Prl (MGI:97762)
chr6 24126185 24147528 6p22 6p22.3 616630 NRSN1, VMP Neurensin 1 NRSN1 140767 ENSG00000152954 Nrsn1 (MGI:894662)
chr6 24171754 24383291 6p22.1 6p22.3 605755 DCDC2, RU2, KIAA1154, NPHP19, DFNB66, NSC Doublecortin domain-containing protein 2 DCDC2 51473 ENSG00000146038 mutation identified in 1 DFNB66 family ?Deafness, autosomal recessive 66, 610212 (3), Autosomal recessive; Nephronophthisis 19, 616217 (3), Autosomal recessive; Sclerosing cholangitis, neonatal, 617394 (3), Autosomal recessive Dcdc2a (MGI:2652818)
chr6 24356902 24358283 6p22.1 6p22.3 608211 KAAG1, RU2AS Kidney-associated antigen 1 KAAG1 353219 ENSG00000146049
chr6 24423968 24495231 6p22.1 6p22.3 602515 GPLD1, PIGPLD, GPIPLD Phospholipase D1, glycosylphosphatidylinositol-specific GPLD1 2822 ENSG00000112293 Gpld1 (MGI:106604)
chr6 24494968 24537206 6p22 6p22.3 610045 ALDH5A1, SSADH Succinic semialdehyde dehydrogenase ALDH5A1 7915 ENSG00000112294 Succinic semialdehyde dehydrogenase deficiency, 271980 (3), Autosomal recessive Aldh5a1 (MGI:2441982)
chr6 24540127 24646154 6p22.2 6p22.3 609269 KIAA0319 KIAA0319 gene KIAA0319 9856 ENSG00000137261 D130043K22Rik (MGI:3036268)
chr6 24649976 24666886 6p22.3-p22.1 6p22.3 605764 TDP2, TTRAP Tyrosyl-DNA phosphodiesterase 2 TDP2 51567 ENSG00000111802 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3), Autosomal recessive Tdp2 (MGI:1860486)
chr6 24667034 24705068 6p22.3 6p22.3 615652 ACOT13, THEM2 Acyl-CoA thioesterase 13 ACOT13 55856 ENSG00000112304 Acot13 (MGI:1914084)
chr6 24774930 24786098 6p22.3 6p22.3 602842 GMNN, MGORS6 Geminin GMNN 51053 ENSG00000112312 Meier-Gorlin syndrome 6, 616835 (3), Autosomal dominant Gmnn (MGI:1927344)
chr6 24804280 25042287 6p22.3-p21.32 6p22.3 611410 FAM65B, C6orf32, KIAA0386, PL48, DFNB104 Family with sequence similarity 65, member B RIPOR2 9750 ENSG00000111913 mutation identified in 1 DFNB104 family ?Deafness, autosomal recessive 104, 616515 (3), Autosomal recessive Ripor2 (MGI:2444879)
chr6 25279427 25620529 6p22.2 6p22.2 609593 LRRC16A, LRRC16, CARMIL Leucine-rich repeat-containing protein 16A CARMIL1 55604 ENSG00000079691 Carmil1 (MGI:1915982)
chr6 25723742 25832107 6p23-p21.3 6p22.2 182308 SLC17A1, NPT1 Solute carrier family 17, sodium phosphate, member-1 (Sodium phosphate transport 1, kidney) SLC17A1 6568 ENSG00000124568 Slc17a1 (MGI:103209)
chr6 25726062 25726561 6p22.2 6p22.2 613499 HISTH2AA, H2AFR, H2AA Histone gene cluster 1, H2A histone family, member A HIST1H2AA 221613 ENSG00000164508 Hist1h2ak (MGI:2448297)
chr6 25726908 25727344 6p22.2 6p22.2 609904 HIST1H2BA, TSH2B Histone 1, H2BA HIST1H2BA 255626 ENSG00000146047 Hist1h2ba (MGI:2448375)
chr6 25754672 25781174 6p22-p21.3 6p22.2 604216 SLC17A4 Solute carrier family 17 (sodium phosphate), member 4 SLC17A4 10050 ENSG00000146039 Slc17a4 (MGI:2442850)
chr6 25845099 25874242 6p21.3 6p22.2 611034 SLC17A3, NPT4, UAQTL4, GOUT4 Solute carrier family 17 (sodium phosphate cotransporter), member 3 SLC17A3 10786 ENSG00000124564 {Gout susceptibility 4}, 612671 (3), Autosomal dominant; [Uric acid concentration, serum, QTL4], 612671 (3), Autosomal dominant Slc17a3 (MGI:2389216)
chr6 25912753 25930726 6p21.3 6p22.2 611049 SLC17A2, NPT3 Solute carrier family 17 (sodium phosphate cotransporter), member 2 SLC17A2 10246 ENSG00000112337 Slc17a2 (MGI:2443098)
chr6 26017031 26017811 6p21.3 6p22.2 142709 HIST1H1A, H1F1 Histone 1, H1a HIST1H1A 3024 ENSG00000124610
chr6 26020489 26020957 6p21.3 6p22.2 602810 HIST1H3A, H3FA Histone 1, H3a HIST1H3A 8350 ENSG00000275714 Hist1h3d (MGI:2448322)
chr6 26021678 26022049 6p21.3 6p22.2 602822 HIST1H4A, H4FA Histone 1, H4a HIST1H4A 8359 ENSG00000278637 Hist1h4d (MGI:2448423)
chr6 26026895 26027251 6p21.3 6p22.2 602829 HIST1H4B, H4FI Histone 1, H4b HIST1H4B 8366 ENSG00000278705 Hist4h4 (MGI:2448443)
chr6 26031588 26032059 6p21.3 6p22.2 602819 HIST1H3B, H3FL Histone 1, H3fl HIST1H3B 8358 ENSG00000274267 in major cluster on 6p Hist2h3b (MGI:2448351)
chr6 26033091 26033567 6p21.3 6p22.2 602795 HIST1H2AB, H2AFM Histone 1, H2ab HIST1H2AB 8335 ENSG00000278463 Hist1h2ag (MGI:2448293)
chr6 26043226 26043656 6p21.3 6p22.2 602803 HIST1H2BB, H2BFF Histone 1, H2bb HIST1H2BB 3018 ENSG00000276410 Hist1h2bb (MGI:2448377)
chr6 26045410 26045868 6p21.3 6p22.2 602812 HIST1H3C, H3FC Histone 1, H3c HIST1H3C 8352 ENSG00000278272 Hist2h3c1 (MGI:2448355)
chr6 26055739 26056470 6p21.3 6p22.2 142710 HIST1H1C, H1F2 Histone 1, H1c HIST1H1C 3006 ENSG00000187837 Hist1h1c (MGI:1931526)
chr6 26087280 26096215 6p21.3 6p22.2 613609 HFE, HLA-H, HFE1, MVCD7, TFQTL2 Hemochromatosis gene HFE 3077 ENSG00000010704 {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant; Hemochromatosis, 235200 (3), Autosomal recessive; {Microvascular complications of diabetes 7}, 612635 (3); {Porphyria cutanea tarda, susceptibility to}, 176100 (3), Autosomal recessive, Autosomal dominant; {Porphyria variegata, susceptibility to}, 176200 (3), Autosomal dominant; [Transferrin serum level QTL2], 614193 (3) Hfe (MGI:109191)
chr6 26103947 26104336 6p21.3 6p22.2 602827 HIST1H4C, H4FG Histone 1, H4c HIST1H4C 8364 ENSG00000197061 Hist2h4 (MGI:2140113)
chr6 26107411 26108135 6p21.3 6p22.2 142712 HIST1H1T, H1FT Histone 1, H1t HIST1H1T 3010 ENSG00000187475 Hist1h1t (MGI:1888530)
chr6 26123466 26123903 6p21.3 6p22.2 602847 HIST1H2BC, H2BFL Histone 1, H2bc HIST1H2BC 8347 ENSG00000180596 Hist1h2bg (MGI:2448386)
chr6 26124144 26124689 6p21.3 6p22.2 602794 HIST1H2AC, H2AFL Histone 1, H2ac HIST1H2AC 8334 ENSG00000180573 Hist1h2ao (MGI:2448302)
chr6 26156330 26157114 6p21.3 6p22.2 142220 HIST1H1E, H1F4, RMNS Histone 1, H1e HIST1H1E 3008 ENSG00000168298 Rahman syndrome, 617537 (3), Autosomal dominant
chr6 26158007 26171348 6p21.3 6p22.2 602799 HIST1H2BD, H2BFB Histone 1, H2bd HIST1H2BD 3017 ENSG00000158373 Hist3h2ba (MGI:1925553)
chr6 26183795 26184229 6p21.3 6p22.2 602805 HIST1H2BE, H2BFH Histone 1, H2be HIST1H2BE 8344 ENSG00000274290 Hist1h2bl (MGI:2448403)
chr6 26188709 26189075 6p21.3 6p22.2 602823 HIST1H4D, H4FB Histone 1, H4d HIST1H4D 8360 ENSG00000277157 Hist1h4m (MGI:2448441)
chr6 26196783 26199292 6p21.3 6p22.2 602811 HIST1H3D, H3FB Histone 1, H3d HIST1H3D 8351 ENSG00000197409 Hist1h3a (MGI:2668828)
chr6 26198783 26199292 6p21.3 6p22.2 602792 HIST1H2AD, H2AFG Histone 1, H2ad HIST1H2AD 3013 ENSG00000196866 Hist1h2ab (MGI:2448306)
chr6 26199558 26199987 6p21.3 6p22.2 602804 HIST1H2BF, H2BFG Histone 1, H2bf HIST1H2BF 8343 ENSG00000277224 Hist1h2be (MGI:2448380)
chr6 26204644 26205020 6p21.3 6p22.2 602830 HIST1H4E, H4FJ Histone 1, H4e HIST1H4E 8367 ENSG00000276966
chr6 26216199 26216643 6p21.3 6p22.2 602798 HIST1H2BG, H2BFA Histone 1, H2bg HIST1H2BG 8339 ENSG00000273802 Hist1h2bf (MGI:2448383)
chr6 26216919 26217482 6p21.3 6p22.2 602786 HIST1H2AE, H2AFA Histone 1, H2ae HIST1H2AE 3012 ENSG00000277075 Hist1h2ai (MGI:2448457)
chr6 26225154 26225615 6p21.3 6p22.2 602813 HIST1H3E, H3FD, H3.1 Histone 1, H3e HIST1H3E 8353 ENSG00000274750 in cluster of 35 histone genes Hist1h3h (MGI:2448349)
chr6 26234211 26234987 6p21.3 6p22.2 142210 HIST1H1D, H1F3 Histone 1, H1d HIST1H1D 3007 ENSG00000124575 Hist1h1d (MGI:107502)
chr6 26240425 26240792 6p21.3 6p22.2 602824 HIST1H4F, H4FC Histone 1, H4f HIST1H4F 8361 ENSG00000274618 Hist1h4c (MGI:2448421)
chr6 26246610 26246976 6p21.3 6p22.2 602832 HIST1H4G, H4FL Histone 1, H4g HIST1H4G 8369 ENSG00000275663
chr6 26250141 26250606 6p21.3 6p22.2 602816 HIST1H3F Histone 1, H3f HIST1H3F 8968 ENSG00000277775 Hist1h3i (MGI:2448350)
chr6 26251650 26252074 6p21.3 6p22.2 602806 HIST1H2BH, H2BFJ Histone 1, H2bh HIST1H2BH 8345 ENSG00000275713 Hist1h2br,Hist1h2bq (MGI:3710645,MGI:3702051)
chr6 26270917 26271383 6p21.3 6p22.2 602815 HIST1H3G, H3FH Histone 1, H3g HIST1H3G 8355 ENSG00000273983 Hist2h3c2 (MGI:2448357)
chr6 26272975 26273411 6p21.3 6p22.2 602807 HIST1H2BI, H2BFK Histone 1, H2bi HIST1H2BI 8346 ENSG00000278588 Hist1h2bc (MGI:1915274)
chr6 26285125 26285498 6p21.3 6p22.2 602828 HIST1H4H, H4FH Histone 1, H4h HIST1H4H 8365 ENSG00000158406 Hist1h4k (MGI:2448439)
chr6 26286525 26286596 6p23-q12 6p22.2 180621 TRNAM1, TRMI2, TRM2, RNTMT1 tRNA methionine-1 TRX-CAT1-2 7210
chr6 26299676 26299748 6p22.3-p21.1 6p22.2 601432 TRNAR3, TRR3 tRNA arginine-3 TRR-TCG4-1 7232
chr6 26365158 26378319 6p22.1 6p22.2 613594 BTN3A2, BTF4 Butyrophilin, subfamily 3, member A2 BTN3A2 11118 ENSG00000186470
chr6 26382892 26394873 6p22.1 6p22.2 613591 BTN2A2, BTF2 Butyrophilin, subfamily 2, member A2 BTN2A2 10385 ENSG00000124508 Btn2a2 (MGI:3606486)
chr6 26402236 26415215 6p22.1 6p22.2 613593 BTN3A1, BTF5, CD277 Butyrophilin, subfamily 3, member A1 BTN3A1 11119 ENSG00000026950
chr6 26421390 26430587 6p22.1 6p22.2 613592 BTN2A3 Butyrophilin, subfamily 2, member A3 BTN2A3P 54718
chr6 26440471 26453414 6p22.1 6p22.2 613595 BTN3A3, BTF3 Butyrophilin, subfamily 3, member A3 BTN3A3 10384 ENSG00000111801
chr6 26457903 26476620 6p22.1 6p22.2 613590 BTN2A1, BTF1 Butyrophilin, subfamily 2, member A1 BTN2A1 11120 ENSG00000112763
chr6 26499289 26510424 6p22.1 6p22.2 601610 BTN1A1, BTN Butyrophilin BTN1A1 696 ENSG00000124557 Btn1a1 (MGI:103118)
chr6 26537497 26537569 6p22.2 6p22.2 615305 TRNAR2 Transfer RNA arginine 2 TRR-ACG1-2 7231
chr6 26538053 26538125 6p22.2 6p22.2 615306 TRNAV21 Transfer RNA valine 21 TRV-CAC1-6 100189227
chr6 26634382 26659751 6p22.1 6p22.2 610847 ZNF322A, ZNF489, ZNF322 Zinc finger protein 322A ZNF322 79692 ENSG00000181315 Zfp322a (MGI:2442566)
chr6 27100000 30500000 6p22.1 612892 STQTL18 Stature quantitative trait locus 18 100302683 associated with rs10946808 {Stature QTL 18}, 612892 (2)
chr6 27132315 27132795 6p22-p21.3 6p22.1 615044 HIST1H2BJ, H2BJ Histone gene cluster 1, H2B histone family, member J HIST1H2BJ 8970 ENSG00000124635 Hist2h2be (MGI:2448415)
chr6 27133037 27133534 6p22-p21.3 6p22.1 615012 HIST1H2AG, H2AG, H2AFP Histone gene cluster 1, H2A histone family, member 6 HIST1H2AG 8969 ENSG00000196787 Hist1h2an (MGI:2448300)
chr6 27138292 27146857 6p22-p21.3 6p22.1 615045 HIST1H2BK, H2BK Histone gene cluster 1, H2B histone family, member K HIST1H2BK 85236 ENSG00000197903 Hist1h2bk (MGI:2448399)
chr6 27139308 27139677 6p21.3 6p22.1 602833 HIST1H4I, H4FM, H4M Histone 1, H4i HIST1H4I 8294 ENSG00000276180 Hist1h4h (MGI:2448427)
chr6 27147081 27147561 6p22-p21.3 6p22.1 615013 HIST1H2AH, H2AH Histone gene cluster 1, H2A histone family, member H HIST1H2AH 85235 ENSG00000274997 Hist1h2ah (MGI:2448295)
chr6 27235508 27235580 6p22.1 6p22.1 615307 TRNAV12 Transfer RNA valine 12 TRV-AAC5-1 100189014
chr6 27247700 27256619 6p22-p21.3 6p22.1 607169 PRSS16, TSSP Protease, serine, 16 PRSS16 10279 ENSG00000112812 Prss16 (MGI:1859181)
chr6 27404009 27473117 6p21.3 6p22.1 602277 ZNF184 Zinc finger protein-184 ZNF184 7738 ENSG00000096654 Zfp184 (MGI:1922244)
chr6 27495813 27495894 6p22.1 6p22.1 189910 TRS-AGA2-4, TRNAS2, TRS2, TRNS Transfer RNA serine (AGA) 2-4 TRS-AGA2-3 23437
chr6 27505827 27505908 6p22.1 6p22.1 606172 TRS-TGA4-1, TRNAS3, TRS3 Transfer RNA serine (TGA) 4-1 TRS-TGA4-1 23540
chr6 27681105 27681177 6p22.1 6p22.1 615308 TRNAV17 Transfer RNA valine 17 TRV-AAC4-1 100189161
chr6 27684694 27684767 6p22.1 6p22.1 615309 TRNAT15 Transfer RNA threonine 15 TRT-AGT2-2 100189340
chr6 27777884 27777955 6p23-q12 6p22.1 180620 TRNAM2, TRNAMI2, RNTMI2 tRNA methionine-2 TRX-CAT2-1 7212 2 of 12+ RNTMI genes are on chr. 6
chr6 27807478 27807930 6p22-p21.3 6p22.1 602800 HIST1H2BL, H2BFC Histone 1, H2bl HIST1H2BL 8340 ENSG00000185130 Hist1h2bj (MGI:2448388)
chr6 27808198 27808666 6p22-p21.3 6p22.1 602787 HIST1H2AI, H2AFC Histone 1, H2ai HIST1H2AI 8329 ENSG00000196747
chr6 27810063 27810535 6p22-p21.3 6p22.1 602818 HIST1H3H, H3FK Histone 1, H3h HIST1H3H 8357 ENSG00000278828 in minor cluster on 6p Hist1h3b (MGI:2448319)
chr6 27814301 27814739 6p22-p21.3 6p22.1 602791 HIST1H2AJ, HIST1H2AK, H2AFE Histone 1, H2aj HIST1H2AJ 8331 ENSG00000276368 Hist1h2af (MGI:2448309)
chr6 27815043 27815488 6p22-p21.3 6p22.1 602802 HIST1H2BM, H2BFE Histone 1, H2bm HIST1H2BM 8342 ENSG00000273703 Hist1h2bn (MGI:2448407)
chr6 27824124 27824479 6p22-p21.3 6p22.1 602826 HIST1H4J, H4FE Histone 1, H4j HIST1H4J 8363 ENSG00000197238 Hist1h4f (MGI:2448425)
chr6 27831173 27831526 6p22-p21.3 6p22.1 602825 HIST1H4K, H4FD Histone 1, H4k HIST1H4K 8362 ENSG00000273542 Hist1h4j (MGI:2448436)
chr6 27837879 27838338 6p22-p21.3 6p22.1 602788 HIST1H2AK, HIST1H2AI, H2AFD Histone 1, H2ak HIST1H2AK 8330 ENSG00000275221 Hist1h2ac (MGI:2448287)
chr6 27838661 27839109 6p22-p21.3 6p22.1 602801 HIST1H2BN, H2BFD Histone 1, H2bn HIST1H2BN 8341 ENSG00000233822 Hist1h2bm (MGI:2448404)
chr6 27865328 27865797 6p22-p21.3 6p22.1 602793 HIST1H2AL, H2AFI Histone 1, H2al HIST1H2AL 8332 ENSG00000276903 Hist1h2ae (MGI:2448290)
chr6 27866791 27867580 6p22-p21.3 6p22.1 142711 HIST1H1B, H1F5 Histone 1, H1b HIST1H1B 3009 ENSG00000184357 ~2Mb centromeric of H1F1 cluster
chr6 27871844 27872320 6p22-p21.3 6p22.1 602814 HIST1H3I, H3FF Histone 1, H3i HIST1H3I 8354 ENSG00000275379 in cluster of 16 histone genes centromeric of major cluster Hist1h3e (MGI:2448326)
chr6 27873147 27873510 6p22-p21.3 6p22.1 602831 HIST1H4L, H4FK Histone 1, H4l HIST1H4L 8368 ENSG00000275126 Hist1h4n (MGI:4843992)
chr6 27890314 27890791 6p22-p21.3 6p22.1 602817 HIST1H3J, H3FJ Histone 1, H3j HIST1H3J 8356 ENSG00000197153 in 2nd cluster on 6p Hist1h3g (MGI:2145541)
chr6 27892698 27893184 6p22-p21.3 6p22.1 602796 HIST1H2AM, H2AFN Histone 1, H2am HIST1H2AM 8336 ENSG00000278677 Hist1h2ad (MGI:2448289)
chr6 27893424 27893890 6p22-p21.3 6p22.1 602808 HIST1H2BO, H2BFN Histone 1, H2bo HIST1H2BO 8348 ENSG00000274641 Hist1h2bp (MGI:2448409)
chr6 28080703 28104243 6p21.3 6p22.1 600834 ZNF165, LD65 Zinc finger protein-165 ZNF165 7718 ENSG00000197279
chr6 28141642 28159471 6p21.3 6p22.1 602240 ZNF192 Zinc finger protein-192 ZKSCAN8 7745 ENSG00000198315 Zkscan8 (MGI:1913815)
chr6 28224701 28233486 6p21.3 6p22.1 602246 ZNF193 Zinc finger protein-193 ZSCAN9 7746 ENSG00000137185
chr6 28241696 28259257 6p21.33-p21.31 6p22.1 611643 ZKSCAN4, ZNF307 Zinc finger with KRAB and SCAN domains 4 ZKSCAN4 387032 ENSG00000187626
chr6 28267009 28278223 6p22.1 6p22.1 616474 ZSCAN26, SREZBP Zinc finger- and SCAN domain-containing protein 26 ZSCAN26 7741 ENSG00000197062 Zscan26 (MGI:3531417)
chr6 28324736 28359156 6p22.3-p22.1 6p22.1 610794 ZNF323 Zinc finger protein 323 ZSCAN31 64288 ENSG00000235109
chr6 28349912 28369176 6p22.1 6p22.1 612791 ZKSCAN3, ZNF306 Zinc finger protein with KRAB and SCAN domains 3 ZKSCAN3 80317 ENSG00000189298 Zkscan3 (MGI:1919989)
chr6 28378820 28399767 6p22.2-p21.3 6p22.1 603978 ZSCAN12, ZNF96, KIAA0426 Zinc finger- and SCAN domain-containing protein 12 ZSCAN12 9753 ENSG00000158691 Zscan12 (MGI:1099444)
chr6 28503295 28515792 6p22.1 6p22.1 607913 GPX6 Glutathione peroxidase 6 GPX6 257202 ENSG00000198704 Gpx6 (MGI:1922762)
chr6 28526011 28534950 6p22.1 6p22.1 603435 GPX5 Glutathione peroxidase 5 (epididymal) GPX5 2880 ENSG00000224586 Gpx5 (MGI:104886)
chr6 28568287 28616176 6p22.1 6p22.1 615254 SCAND3, ZBED9, BUSTER4, KIAA1925 SCAN domain-containing protein 3 ZBED9 114821 ENSG00000232040
chr6 28903001 28923990 6p22 6p22.1 602165 TRIM27, RFP Tripartite motif-containing 27 TRIM27 5987 ENSG00000204713 Trim27 (MGI:97904)
chr6 29111809 29112883 6p22.1 6p22.1 615016 OR2J3, C3HEXS Olfactory receptor, family 2, subfamily J, member 3 OR2J3 442186 ENSG00000204701 [C3HEX, ability to smell], 615082 (3), Autosomal dominant
chr6 29486696 29487955 6p21 6p22.1 607235 MAS1L, MRG MAS1 oncogene-like MAS1L 116511 ENSG00000204687
chr6 29555611 29559924 6p21.3 6p22.1 606050 UBD, FAT10 Ubiquitin D UBD 10537 ENSG00000213886 Ubd (MGI:1344410)
chr6 29586523 29592505 6p21.3 6p22.1 600578 OR2H3, OLFR2 Olfactory receptor, family 2, subfamily H, member 3 (olfactory receptor 2) OR2H2 7932 ENSG00000204657 in class I MHC region Olfr90 (MGI:2177473)
chr6 29602227 29633134 6p21.3 6p22.1 603540 GABBR1, GABABR1 Gamma-aminobutyric acid B receptor 1 GABBR1 2550 ENSG00000204681 Gabbr1 (MGI:1860139)
chr6 29656980 29672371 6p21.3 6p22.1 159465 MOG, NRCLP7 Myelin-oligodendrocyte glycoprotein MOG 4340 ENSG00000204655 60kb telomeric to HLA-F; mutation identified in 1 NRCLP7 family ?Narcolepsy 7, 614250 (3), Autosomal dominant Mog (MGI:97435)
chr6 29672391 29681149 6p22.1 6p22.1 612192 ZFP57, TNDM1 Zinc finger protein 57, mouse, homolog of ZFP57 346171 ENSG00000204644 Diabetes mellitus, transient neonatal, 1, 601410 (3) Zfp57 (MGI:99204)
chr6 29723339 29740354 6p21.3 6p22.1 143110 HLA-F, HLA-CDA12, HLAF Major histocompatibility complex, class I, F HLA-F 3134 ENSG00000204642 Gm11127,Gm7030 (MGI:3779381,MGI:3647514)
chr6 29826966 29831129 6p21.3 6p22.1 142871 HLA-G HLA-G histocompatibility antigen, class I HLA-G 3135 ENSG00000204632 {Asthma, susceptibility to}, 600807 (2), Autosomal dominant H2-M3 (MGI:95915)
chr6 29942469 29945883 6p21.3 6p22.1 142800 HLA-A Major histocompatibility complex, class I, A HLA-A 3105 ENSG00000206503 {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3) Gm8909,H2-Bl,H2-Q6,H2-K1,H2-Q7,H2-Q4,H2-Q2,Gm10499,H2-Q1,H2-D1,H2-Q10 (MGI:95935,MGI:95936,MGI:95904,MGI:3702919,MGI:95931,MGI:892004,MGI:95933,MGI:3704134,MGI:95896,MGI:95928,MGI:95929)
chr6 29975114 29978402 6p21.3 6p22.1 615797 HCG9, HCGIX, HCGIX4 HLA complex group 9, noncoding HCG9 10255
chr6 30001010 30061188 6p22.1 6p22.1 615714 ZNRD1AS1, TCTEX4, HTEX4 ZNRD1 antisense RNA 1 ZNRD1ASP 80862
chr6 30061239 30064908 6p22.1 6p22.1 607525 ZNRD1, TCTEX6, HTEX6 Zinc ribbon domain-containing protein 1 ZNRD1 30834 ENSG00000066379 Znrd1 (MGI:1913386)
chr6 30066863 30070332 6p21.3 6p22.1 606670 PPP1R11, TCTEX5 Protein phosphatase 1, regulatory subunit 11 PPP1R11 6992 ENSG00000204619 Ppp1r11 (MGI:1923747)
chr6 30070265 30080624 6p21.3 6p22.1 607524 RNF39, HZFW, HZF, LIRF Ring finger protein 39 RNF39 80352 ENSG00000204618 Rnf39 (MGI:2156378)
chr6 30102891 30113105 6p23-p21 6p22.1 609316 TRIM31, HCGI Tripartite motif-containing protein 31 TRIM31 11074 ENSG00000204616 Trim31 (MGI:2385051)
chr6 30135997 30148772 6p22.1 6p22.1 616976 TRIM40, RNF35 Tripartite motif-containing protein 40 TRIM40 135644 ENSG00000204614 Trim40 (MGI:2684881)
chr6 30151938 30163215 6p21.3 6p22.1 605701 RNF9, RFB30, HERF1 RING finger protein-9 TRIM10 10107 ENSG00000204613 Trim10 (MGI:1338757)
chr6 30184452 30213493 6p21.3 6p22.1 600830 ZNF173 Zinc finger protein-173 TRIM26 7726 ENSG00000234127 Trim26 (MGI:1337056)
chr6 30326843 30343728 6p22.1-p21.3 6p22.1 605700 TRIM39, RNF23, TFP Tripartite motif-containing 39 TRIM39 56658 ENSG00000204599 Trim39 (MGI:1890659)
chr6 30345128 30346857 6p21 6p22.1 612524 RPP21 Ribonuclease P/MRP, 21kD subunit RPP21 79897 ENSG00000241370 Rpp21 (MGI:1914926)
chr6 30489405 30494204 6p21.3 6p22.1 143010 HLA-E Major histocompatibility complex, class I, E HLA-E 3133 ENSG00000204592 H2-T23,H2-T-ps (MGI:95957,MGI:2442805)
chr6 30500000 36600000 6p21.3 107320 ATPLS Antiphospholipid syndrome, familial 100499532 possible linkage with HLA-DRB1*14 ?Antiphospholipid syndrome, familial, 107320 (2), Autosomal dominant
chr6 30500000 40500000 6p21.3-p21.2 153380 CP20 Lymphocyte cytosolic protein, molecular weight 20kD 7938
chr6 30500000 36600000 6p21.3 612862 CTEPH1 Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to 100302516 associated with DPB1*0202 {Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to}, 612862 (2)
chr6 30500000 36600000 6p21.3 608645 DFNA31 Deafness, autosomal dominant 31 DFNA31 347737 between D6S276 and D6S273 Deafness, autosomal dominant 31, 608645 (2), Autosomal dominant
chr6 30500000 46200000 6p21 608816 EJM3 Epilepsy, juvenile myoclonic 3 449018 Epilepsy, juvenile myoclonic 3, 608816 (2)
chr6 30500000 32100000 6p21.33 613024 FL1 Follicular lymphoma, susceptibility to, 1 100306940 associated with rs6457327 {Follicular lymphoma, susceptibility to, 1}, 613024 (2)
chr6 30500000 36600000 6p21.3 615801 HCG8, HCGVIII HLA complex group 8
chr6 30500000 36600000 6p21.3 612735 HLA-DRB3, HLA-DR52 Major histocompatibility complex, class II, DR beta-3 HLA-DRB3 3125
chr6 30500000 36600000 6p21.3 604519 IBD3 Inflammatory bowel disease 3 IBD3 30829 {Inflammatory bowel disease 3}, 604519 (2), Autosomal dominant
chr6 30500000 36600000 6p21.3 222100 IDDM1 Insulin-dependent diabetes mellitus-1 linkage or association, with HLA {Diabetes mellitus, insulin-dependent-1}, 222100 (2), Autosomal recessive
chr6 30500000 36600000 6p21.3 137100 IGAD1 Immunoglobulin A deficiency IGAD1 10986 Immunoglobulin A deficiency, 137100 (2), Autosomal recessive, Autosomal dominant, Isolated cases
chr6 30500000 36600000 6p21.3 146820 IGAT Immune response to synthetic polypeptide--IRGAT 7927 in B/D segment
chr6 30500000 36600000 6p21.3 147080 IGLP1 Immune response to synthetic polypeptides-1 IGLP1 7925
chr6 30500000 36600000 6p21.3 147090 IGLP2 Immune response to synthetic polypeptides-2 IGLP2 7926
chr6 30500000 36600000 6p21.3 146850 ISCW Immune suppression to streptococcal antigen 7928 HLA-linked
chr6 30500000 40500000 6p21.3-p21.2 150270 LAP Laryngeal adductor paralysis 7939 ?linkage to HLA and GLO1 ?Laryngeal adductor paralysis, 150270 (2), Autosomal dominant
chr6 30500000 46200000 6p21 601086 LATD Laterality defects, autosomal dominant 207115 max lod 2.95 at theta = 0
chr6 30500000 32100000 6p21.33 612593 LNCR4 Lung cancer susceptibility 4 100271693 associated with rs3117582 and rs3131379 {Lung cancer susceptibility 4}, 612593 (2)
chr6 30500000 36600000 6p21.3 614692 MBNP Membranous nephropathy, susceptibility to 101154649 {?Membranous nephropathy, susceptibility to}, 614692 (2)
chr6 30500000 40500000 6p21.3-p21.2 614644 MPVQTL4 Mean platelet volume quantitative trait locus 4 100887753 associated with rs210134 Mean platelet volume QTL4, 614644 (2)
chr6 30500000 36600000 6p21.3 607085 MYAS1 Myasthenia gravis with thymus hyperplasia 246750 Myasthenia gravis with thymus hyperplasia, 607085 (2)
chr6 30500000 36600000 6p21.3 272370 NKS1, EC1 Susceptibility to lysis by alloreactive natural killer cells NKS1 4819
chr6 30500000 36600000 6p21.3 161550 NPCA2 Nasopharyngeal carcinoma, susceptibility to, 2 100312951 associated with rs2517713 and rs2975042 {Nasopharyngeal carcinoma, susceptibility to, 2}, 161550 (2)
chr6 30500000 36600000 6p21.3 613007 PBC2 Biliary cirrhosis, primary, 2 100303716 associated with rs2856683 {Biliary cirrhosis, primary, 2}, 613007 (2)
chr6 30500000 36600000 6p21.3 600089 PBCA Pancreatic beta cell, agenesis of 7962 uniparental disomy ?Diabetes mellitus, insulin-dependent, neonatal, 600089 (2), Autosomal recessive
chr6 30500000 36600000 6p21.3 604809 PBLT Panbronchiolitis, diffuse Panbronchiolitis, diffuse, 604809 (2), Multifactorial
chr6 30500000 36600000 6p21.3 614590 PDCOS Podoconiosis, susceptibility to 100885774 {Podoconiosis, susceptibility to}, 614590 (2)
chr6 30500000 46200000 6p21 611185 RLS6 Restless legs syndrome, susceptibility to, 6 100302512 associated with rs9296249 and rs9357271 {Restless legs syndrome 6}, 611185 (2)
chr6 30500000 36600000 6p21.3 179450 RWS Ragweed sensitivity 7937 ?linkage or association, with HLA ?Ragweed sensitivity, 179450 (2), Autosomal dominant
chr6 30500000 36600000 6p21.3 193200 VAMAS6 Vitiligo-associated multiple autoimmune disease susceptibility 6 246319 possible second locus on 1p31.3-p32.2 {Vitiligo-associated multiple autoimmune disease susceptibility 6}, 193200 (2), Autosomal recessive
chr6 30500000 36600000 6p21.3 608710 WG Wegener granulomatosis 474168 Wegener granulomatosis, 608710 (2)
chr6 30500000 36600000 6p21.3 153600 WM1 Macroglobulinemia, Waldenstrom, susceptibility to, 1 100188787 linked to HLA {Macroglobulinemia, Waldenstrom, susceptibility to, 1}, 153600 (2), Autosomal dominant
chr6 30500000 36600000 6p21.3 603282 ZNF204 Zinc finger protein-204 ZNF204P 7754 ?pseudogene
chr6 30541376 30557593 6p21.3 6p21.33 143024 GNL1, HSR1 Guanine nucleotide-binding protein-like 1 GNL1 2794 ENSG00000204590 Gnl1 (MGI:95764)
chr6 30571392 30591531 6p21.33 6p21.33 603429 ABCF1, ABC50 ATP-binding cassette 50, TNF-alpha stimulated ABCF1 23 ENSG00000204574 Abcf1 (MGI:1351658)
chr6 30584331 30584416 6p21.33 6p21.33 611619 MIR877, MIRN877 Micro RNA 877 MIR877 100126314
chr6 30600399 30618606 6p21.3 6p21.33 603771 PPP1R10, PNUTS Protein phosphatase 1, regulatory subunit 10 PPP1R10 5514 ENSG00000204569 Ppp1r10 (MGI:1289273)
chr6 30617319 30626396 6p21.3 6p21.33 611982 MRPS18B, MRPS18-2 Mitochondrial ribosomal protein S18B MRPS18B 28973 ENSG00000204568 pseudogenes on chromosomes 1 and 2 Mrps18b (MGI:1914223)
chr6 30626456 30646822 6p21.33 6p21.33 615556 ATAT1, MEC17, C6orf134 Alpha-tubulin acetyltransferase 1 ATAT1 79969 ENSG00000137343 Atat1 (MGI:1913869)
chr6 30653118 30673052 6p21.3 6p21.33 603405 DHX16, DDX16, DBP2, PRP8 DEAH (Asp-Glu-Ala-His) box polypeptide 16 DHX16 8449 ENSG00000204560 Dhx16 (MGI:1916442)
chr6 30676388 30687894 6p21.3 6p21.33 610990 PPP1R18, KIAA1949 Protein phosphatase 1 regulatory subunit 18 PPP1R18 170954 ENSG00000146112 Ppp1r18 (MGI:1923698)
chr6 30699806 30717987 6pter-p21.3 6p21.33 607593 MDC1, NFBD1, KIAA0170 Mediator of DNA damage checkpoint protein 1 MDC1 9656 ENSG00000137337 Mdc1 (MGI:3525201)
chr6 30720200 30725425 6p21.3 6p21.33 191130 TUBB, TUBB5, M40, CDCBM6, CSCSC1 Tubulin, beta polypeptide TUBB 203068 ENSG00000196230 Cortical dysplasia, complex, with other brain malformations 6, 615771 (3), Autosomal dominant; Symmetric circumferential skin creases, congenital, 1, 156610 (3), Autosomal dominant Tubb5 (MGI:107812)
chr6 30727708 30742850 6p21.3 6p21.33 606998 FLOT1 Flotillin 1 FLOT1 10211 ENSG00000137312 Flot1 (MGI:1100500)
chr6 30743198 30744549 6p21.3 6p21.33 602996 IER3, DIF2, IEX1, PRG1, GLY96 Immediate early response-3 IER3 8870 ENSG00000137331 Ier3 (MGI:104814)
chr6 30880957 30900155 6p21.3 6p21.33 600408 NEP, EDDR1, NTRK4, TRKE Neuroepithelial tyrosine kinase DDR1 780 ENSG00000204580 Ddr1 (MGI:99216)
chr6 30908199 30914102 6p21.3 6p21.33 601760 GTF2H4 General transcription factor IIH, polypeptide 4 GTF2H4 2968 ENSG00000213780 Gtf2h4 (MGI:1338799)
chr6 30914207 30926458 6p21.3 6p21.33 612802 VARS2, KIAA1885, COXPD20 Valyl-tRNA synthetase 2 VARS2 57176 ENSG00000137411 Combined oxidative phosphorylation deficiency 20, 615917 (3), Autosomal recessive Vars2 (MGI:1916165)
chr6 30940999 30954220 6p21.3 6p21.33 613928 DPCR1, C6orf37 Diffuse panbronchiolitis critical region gene 1 MUCL3 135656 ENSG00000168631 Dpcr1 (MGI:2685476)
chr6 30983707 30989902 6p21.33 6p21.33 616991 MUC21, C6orf205 Mucin 21, cell surface-associated MUC21 394263 ENSG00000204544
chr6 31005951 31035401 6p21.3 6p21.33 613917 MUC22, PBMUCL1 Mucin 22 MUC22 100507679 ENSG00000261272
chr6 31053449 31059889 6p21.3 6p21.33 613918 HCG22, PBMUCL2 HLA complex group 22 HCG22 285834
chr6 31114830 31140091 6p21.3 6p21.33 613525 SEEK1, C6orf16, PSORS1C1 SEEK1 gene PSORS1C1 170679 ENSG00000204540
chr6 31115087 31120474 6p21.3 6p21.33 602593 CDSN, HTSS1, HYPT2, PSS1 Corneodesmosin CDSN 1041 ENSG00000204539 Hypotrichosis 2, 146520 (3), Autosomal dominant; Peeling skin syndrome 1, 270300 (3), Autosomal recessive
chr6 31142438 31158237 6p21.3 6p21.33 605310 CCHCR1, HCR, C6orf18 Coiled-coil alpha-helical rod protein 1 CCHCR1 54535 ENSG00000204536 ?role in psoriasis Cchcr1 (MGI:2385321)
chr6 31158523 31164214 6p21.3 6p21.33 600912 TCF19, SC1 Transcription factor-19 (SC1) TCF19 6941 ENSG00000137310 Tcf19 (MGI:103180)
chr6 31164336 31170692 6p21.3 6p21.33 164177 POU5F1, OTF3, OCT3 Pou domain, class 5, transcription factor 1 (octamer-binding transcription factor 3) POU5F1 5460 ENSG00000204531 OTF3L on 12; ?related pseudogene on chr.8 Pou5f1 (MGI:101893)
chr6 31268748 31272135 6p21.3 6p21.33 142840 HLA-C, PSORS1 Major histocompatibility complex, class I, C HLA-C 3107 ENSG00000204525 {HIV-1 viremia, susceptibility to}, 609423 (3); {Psoriasis susceptibility 1}, 177900 (3), Multifactorial
chr6 31353865 31357244 6p21.3 6p21.33 142830 HLA-B, SPDA1 Major histocompatibility complex, class I, B HLA-B 3106 ENSG00000234745 {Abacavir hypersensitivity, susceptibility to} (3); {Drug-induced liver injury due to flucloxacillin} (3); {Spondyloarthropathy, susceptibility to, 1}, 106300 (3), Multifactorial; {Stevens-Johnson syndrome, susceptibility to}, 608579 (3); {Synovitis, chronic, susceptibility to} (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
chr6 31399783 31415314 6p21.3 6p21.33 600169 MICA MHC class I polypeptide-related sequence A MICA 100507436 ENSG00000204520
chr6 31463179 31465808 6p21.3 6p21.33 604676 HCP5, 6S2650E Major histocompatibility complex, class I, gene P5-1 HCP5 10866
chr6 31494880 31511123 6p21.3 6p21.33 602436 MICB MHC class I polypeptide-related sequence B MICB 4277 ENSG00000204516 Mill2 (MGI:2179989)
chr6 31528961 31530230 6p21.3 6p21.33 609624 MCCD1 Mitochondrial coiled-coil domain 1 MCCD1 401250 ENSG00000204511
chr6 31530218 31542474 6p21.3 6p21.33 142560 DDX39B, BAT1, D6S81E DEAD box polypeptide 39Bipt-1 DDX39B 7919 ENSG00000198563 5 BATs in 160kb segment including also TNFA, TNFB Ddx39b (MGI:99240)
chr6 31544450 31546847 6p21.3 6p21.33 606853 ATP6V1G2, ATP6G ATPase, H+ transporting, lysosomal, 13kD, V1 subunit G isoform 2 ATP6V1G2 534 ENSG00000213760 Atp6v1g2 (MGI:1913487)
chr6 31546850 31558828 6p21.3 6p21.33 601022 NFKBIL1 Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 NFKBIL1 4795 ENSG00000204498 {Rheumatoid arthritis, susceptibility to}, 180300 (3) Nfkbil1 (MGI:1340031)
chr6 31560549 31574323 6p21.3 6p21.33 153440 LTA, TNFB Lymphotoxin alpha (formerly tumor necrosis factor beta) LTA 4049 ENSG00000226979 cen-DR-21OH-C4-BF-C2-TNF-LTA-HLA-B {Leprosy, susceptibility to, 4}, 610988 (3); {Myocardial infarction, susceptibility to}, 608446 (3); {Psoriatic arthritis, susceptibility to}, 607507 (3) Lta (MGI:104797)
chr6 31575566 31578335 6p21.3 6p21.33 191160 TNF, TNFA Tumor necrosis factor (cachectin) TNF 7124 ENSG00000232810 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {Dementia, vascular, susceptibility to} (3); {Malaria, cerebral, susceptibility to}, 611162 (3); {Migraine without aura, susceptibility to}, 157300 (3), Autosomal dominant; {Septic shock, susceptibility to} (3) Tnf (MGI:104798)
chr6 31580557 31582424 6p21.3 6p21.33 600978 LTB, TNFC Lymphotoxin B LTB 4050 ENSG00000227507 Ltb (MGI:104796)
chr6 31586178 31588908 6p21.3-p21.1 6p21.33 109170 LST1, D6S49E, B144 Leukocyte-specific transcript 1 (B144 protein) LST1 7940 ENSG00000204482 10kb 3' from TNFA
chr6 31588882 31593023 6p21.3 6p21.33 611550 NCR3, 1C7, NKP30, CD337, MALS Natural cytotoxicity triggering receptor 3 NCR3 259197 ENSG00000204475 {Malaria, mild, susceptibility to}, 609148 (3)
chr6 31615208 31617024 6p21.3 6p21.33 601833 AIF1, IRT1 Allograft inflammatory factor 1 AIF1 199 ENSG00000204472 part of TNF block Aif1 (MGI:1343098)
chr6 31620672 31637779 6p21.3 6p21.33 142580 PRRC2A, BAT2, D6S51E Proline-rich coiled-coil protein 2A PRRC2A 7916 ENSG00000204469 Prrc2a (MGI:1915467)
chr6 31639027 31660899 6p21.3 6p21.33 142590 BAG6, BAT3, D6S52E BCL2-associated athanogene 6 BAG6 7917 ENSG00000204463 Bag6 (MGI:1919439)
chr6 31661228 31666282 6p21.3 6p21.33 142610 GPANK1, BAT4, D6S54E G patch domain- and ankyrin repeats-containing protein 1 GPANK1 7918 ENSG00000204438 Gpank1 (MGI:2148975)
chr6 31665879 31670069 6p21.3 6p21.33 115441 CSNK2B Casein kinase-2, beta polypeptide CSNK2B 1460 ENSG00000204435 Csnk2b (MGI:88548)
chr6 31670950 31672449 6p21.3 6p21.33 610433 LY6G5B, G5B Lymphocyte antigen 6 complex, locus G5B LY6G5B 58496 ENSG00000240053 Ly6g5b (MGI:2385809)
chr6 31676683 31680372 6p21.3 6p21.33 610434 LY6G5C, G5C Lymphocyte antigen 6 complex, locus G5C LY6G5C 80741 ENSG00000204428 Ly6g5c (MGI:2148974)
chr6 31686948 31703359 6p21.3 6p21.33 142620 ABHD16A, BAT5, D6S82E Abhydrolase domain-containing 16A ABHD16A 7920 ENSG00000204427 Abhd16a (MGI:99476)
chr6 31711975 31714064 6p21.3 6p21.33 610437 LY6G6E, G6E Lymphocyte antigen 6 complex, locus G6E LY6G6E 79136
chr6 31715355 31717803 6p21.3 6p21.33 606038 LY6G6D, MEGT1, G6D, C6orf23 Lymphocyte antigen 6 complex, locus G6D LY6G6D 58530 ENSG00000244355 Ly6g6d (MGI:2148931)
chr6 31718647 31721733 6p21.3 6p21.33 610435 LY6G6C, G6C Lymphocyte antigen 6 complex, locus G6C LY6G6C 80740 ENSG00000204421 Ly6g6c (MGI:2148930)
chr6 31720556 31726709 6p21.33 6p21.33 606520 G6B, C6orf25, THAMY G6B protein MPIG6B 80739 ENSG00000204420 mutation identified in 1 THAMY family ?Thrombocytopenia, anemia, and myelofibrosis, 617441 (3), Autosomal recessive Mpig6b (MGI:2146995)
chr6 31727036 31730264 6p21.3 6p21.33 604744 DDAH2 Dimethylarginine dimethylaminohydrolase-2 DDAH2 23564 ENSG00000213722 Ddah2 (MGI:1859016)
chr6 31739947 31762677 6p21.33 6p21.33 603382 MSH5, POF13 MutS, E. coli, homolog of, 5 MSH5 4439 ENSG00000204410 mutation identified in POF13 family ?Premature ovarian failure 13, 617442 (3), Autosomal recessive Msh5 (MGI:1329021)
chr6 31764134 31777330 6p21.33 6p21.33 609693 VWA7, C6orf27, G7C von Willebrand factor A domain-containing protein 7 VWA7 80737 ENSG00000204396 Vwa7 (MGI:1306798)
chr6 31777517 31795934 6p21.3 6p21.33 192150 VARS, VARS1, G7A, VARS2, NDMSCA Valyl-tRNA synthetase VARS 7407 ENSG00000204394 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive Vars (MGI:90675)
chr6 31797391 31806983 6p21.3 6p21.33 607282 LSM2, C6orf28 LSM2 protein LSM2 57819 ENSG00000204392 Lsm2 (MGI:90676)
chr6 31809618 31815057 6p21.3 6p21.33 140559 HSPA1L Heat-shock 70kD protein-like-1 HSPA1L 3305 ENSG00000204390 Hspa1l (MGI:96231)
chr6 31815513 31817941 6p21.3 6p21.33 140550 HSPA1A Heat-shock 70kD protein-1A HSPA1A 3303 ENSG00000204389 also 14q22-q24, chr.21, and at least 1 other chromosome Hspa1a (MGI:96244)
chr6 31827734 31830253 6p21.3 6p21.33 603012 HSPA1B Heat-shock 70kD protein-1B HSPA1B 3304 ENSG00000204388 Hspa1a (MGI:96244)
chr6 31834914 31839765 6p21.3 6p21.33 605447 G8 G8 protein C6orf48 50854 ENSG00000204387
chr6 31859051 31862931 6p21.3 6p21.33 608272 NEU1, NEU, SIAL1 Neuraminidase 1 (lysosomal sialidase; sialidase 1) NEU1 4758 ENSG00000204386 Sialidosis, type I, 256550 (3), Autosomal recessive; Sialidosis, type II, 256550 (3), Autosomal recessive Neu1 (MGI:97305)
chr6 31863191 31879045 6p21.3 6p21.33 606107 SLC44A4, CTL4, C6orf29, DFNA72 Solute carrier family 44, member 4 SLC44A4 80736 ENSG00000204385 mutation identified in 1 DFNA72 family ?Deafness, autosomal dominant 72, 617606 (3), Autosomal dominant Slc44a4 (MGI:1917379)
chr6 31879758 31897706 6p21.3 6p21.33 604599 EHMT2, GAT8, G9A, NG36 Euchromatic histone-lysine N-methyltransferase 2 EHMT2 10919 ENSG00000204371 Ehmt2 (MGI:2148922)
chr6 31897784 31945673 6p21.3 6p21.33 613927 C2, ARMD14 Complement component-2 C2 717 ENSG00000166278 no crossover with BF C2 deficiency, 217000 (3), Autosomal recessive; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3) C2 (MGI:88226)
chr6 31945943 31952083 6p21.3 6p21.33 138470 CFB, BF, GBG, AHUS4, ARMD14, CFBD Complement factor B CFB 629 ENSG00000243649 mutation identified in 1 CFBD family ?Complement factor B deficiency, 615561 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3), Autosomal dominant; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3) Cfb (MGI:105975)
chr6 31952086 31959086 6p21.3 6p21.33 154040 RDBP RD RNA-binding protein NELFE 7936 ENSG00000204356 between C4 and BF Nelfe (MGI:102744)
chr6 31958803 31969851 6p21 6p21.33 600478 SKIV2L, SKI2, SKI2W, THES2 Superkiller viralicidic activity 2, S. cerevisiae, homolog, like SKIV2L 6499 ENSG00000204351 Trichohepatoenteric syndrome 2, 614602 (3), Autosomal recessive Skiv2l (MGI:1099835)
chr6 31969810 31972289 6p21.3 6p21.33 605996 DOM3Z DOM3, C. elegans, homolog of, Z DXO 1797 ENSG00000204348 Dxo (MGI:1890444)
chr6 31971174 31981445 6p21.3 6p21.33 604977 STK19 Serine/threonine protein kinase 19 STK19 8859 ENSG00000204344 Stk19 (MGI:1860085)
chr6 31982056 32002679 6p21.3 6p21.33 120810 C4A, C4S, C4AD Complement component-4A C4A 720 ENSG00000244731 order: HLA-B, C2, BF, C4A, C4B, CYP21, DR [Blood group, Rodgers], 614374 (3); C4a deficiency, 614380 (3), Autosomal recessive C4b,C4a (MGI:98320,MGI:88228)
chr6 32014794 32035417 6p21.3 6p21.33 120820 C4B, C4F, C4BD Complement component-4B C4B 721 ENSG00000224389 10kb from C4S C4B deficiency, 614379 (3) C4b,C4a (MGI:98320,MGI:88228)
chr6 32038315 32041669 6p21.3 6p21.33 613815 CYP21A2, CYP21, CA21H Cytochrome P450, subfamily XXIA, polypeptide 2 (steroid 21-hydroxylase) CYP21A2 1589 ENSG00000231852 linked to C2, C4, BF; 2 loci, A and B; only B active; pseudogene CYP21P contiguous on 6p Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive Cyp21a1 (MGI:88591)
chr6 32041154 32109373 6p21.3 6p21.33-p21.32 600985 TNXB, TNX, TNXB1, TNXBS, TNXB2, EDSCLL, VUR8 Tenascin XB TNXB 7148 ENSG00000168477 Ehlers-Danlos syndrome, classic-like, 606408 (3), Autosomal recessive; Vesicoureteral reflux 8, 615963 (3), Autosomal dominant Tnxb (MGI:1932137)
chr6 32115267 32128239 6p21.3 6p21.32 600984 ATF6B, CREBL1 Activating transcription factor 6 beta ATF6B 1388 ENSG00000213676 Atf6b (MGI:105121)
chr6 32128706 32130289 6p21.3 6p21.32 617076 FKBPL, DIR1, WISP39 FK506-binding protein-like FKBPL 63943 ENSG00000204315 Fkbpl (MGI:1932127)
chr6 32153451 32163680 6p21.3 6p21.32 603298 PPT2 Palmitoyl-protein thioesterase-2 PPT2 9374 ENSG00000221988 Ppt2 (MGI:1860075)
chr6 32164604 32168284 6p21.32 6p21.32 609897 EGFL8 Epidermal growth factor-like 8 EGFL8 80864 ENSG00000241404 Egfl8 (MGI:1932094)
chr6 32168205 32178110 6p21.3 6p21.32 603099 AGPAT1, LPAATA 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase-alpha) AGPAT1 10554 ENSG00000204310 Agpat1 (MGI:1932075)
chr6 32178384 32180792 6p21.3 6p21.32 602677 RNF5, RING5 RING finger protein-5 RNF5 6048 ENSG00000204308 Rnf5 (MGI:1860076)
chr6 32180967 32184379 6p21.3 6p21.32 600214 AGER, RAGE Advanced glycosylation end product-specific receptor AGER 177 ENSG00000204305 at junction of classes II, III MHC Ager (MGI:893592)
chr6 32184732 32190185 6p21.3 6p21.32 176311 PBX2, HOX12, G17 Pre-B-cell leukemia transcription factor-2 PBX2 5089 ENSG00000204304 Pbx2 (MGI:1341793)
chr6 32194842 32224066 6p21.3 6p21.32 164951 NOTCH4, INT3 Notch, Drosophila, homolog of, 4 NOTCH4 4855 ENSG00000204301 Notch4 (MGI:107471)
chr6 32393338 32408878 6p21.3 6p21.32 606000 BTNL2, SS2 Butyrophilin-like protein 2 BTNL2 56244 ENSG00000204290 {Sarcoidosis, susceptibility to, 2}, 612387 (3), Autosomal dominant Btnl2 (MGI:1859549)
chr6 32439841 32445045 6p21.3 6p21.32 142860 HLA-DRA Major histocompatibility complex, class II, DR alpha HLA-DRA 3122 ENSG00000204287 1 alpha, 3 different beta chains H2-Ea-ps (MGI:95900)
chr6 32517342 32530315 6p21.3 6p21.32 604776 HLA-DRB5 Major histocompatibility complex, class II, DR beta-5 HLA-DRB5 3127 ENSG00000198502 H2-Eb1 (MGI:95901)
chr6 32578768 32589835 6p21.3 6p21.32 142857 HLA-DRB1, SS1 Major histocompatibility complex, class II, DR beta-1 HLA-DRB1 3123 ENSG00000196126 {Multiple sclerosis, susceptibility to, 1}, 126200 (3), Multifactorial; {Sarcoidosis, susceptibility to, 1}, 181000 (3), Autosomal dominant
chr6 32637405 32654845 6p21.3 6p21.32 146880 HLA-DQA1, CELIAC1 Major histocompatibility complex, class II, DQ alpha-1 HLA-DQA1 3117 ENSG00000196735 {Celiac disease, susceptibility to}, 212750 (3), Autosomal recessive, Multifactorial H2-Aa (MGI:95895)
chr6 32659463 32666688 6p21.3 6p21.32 604305 HLA-DQB1, CELIAC1 Major histocompatibility complex, class II, DQ beta-1 HLA-DQB1 3119 ENSG00000179344 {Celiac disease, susceptibility to}, 212750 (3), Autosomal recessive, Multifactorial; {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3), Autosomal dominant; {Multiple sclerosis, susceptibility to, 1}, 126200 (3), Multifactorial H2-Ab1 (MGI:103070)
chr6 32741385 32746886 6p21.32 6p21.32 613503 HLA-DQA2, HLA-DXA Major histocompatibility complex, class II, DQ alpha-2 HLA-DQA2 3118 ENSG00000237541
chr6 32756093 32763552 6p21.32 6p21.32 615161 HLA-DQB2, HLA-DXB Major histocompatibility complex, class II, DQ beta-2 HLA-DQB2 3120 ENSG00000232629
chr6 32812762 32817047 6p21.3 6p21.32 600629 HLA-DOB Major histocompatibility complex, class II, DO beta HLA-DOB 3112 ENSG00000241106 H2-Ob (MGI:95925)
chr6 32821832 32838822 6p21.3 6p21.32 170261 TAP2, ABCB3, PSF2, RING11 Transporter 2, ATP-binding cassette, subfamily B TAP2 6891 ENSG00000204267 tel-TAP1-LMP2-LMP1-TAP2-cen Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3), Autosomal recessive; Wegener-like granulomatosis (3) Tap2 (MGI:98484)
chr6 32840716 32844934 6p21.3 6p21.32 177046 PSMB8, LMP7, RING10, JMP, NKJO, ALDD Proteasome subunit, beta type, 8 (large multifunctional protease-7) PSMB8 5696 ENSG00000204264 between TAP1 and TAP2 Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3), Autosomal recessive Psmb8 (MGI:1346527)
chr6 32845208 32853970 6p21.3 6p21.32 170260 TAP1, ABCB2, RING4, PSF1 Transporter 1, ATP-binding cassette, subfamily B TAP1 6890 ENSG00000168394 ~7kb telomeric to TAP2 Bare lymphocyte syndrome, type I, 604571 (3), Autosomal recessive Tap1 (MGI:98483)
chr6 32854160 32859850 6p21.3 6p21.32 177045 PSMB9, LMP2, RING12 Proteasome subunit, beta type, 9 PSMB9 5698 ENSG00000240065 just centromeric to TAP1 Psmb9 (MGI:1346526)
chr6 32934628 32941069 6p21.3 6p21.32 142856 HLA-DMB, RING7 Major histocompatibility complex, class II, DM beta HLA-DMB 3109 ENSG00000242574 H2-DMb2,H2-DMb1 (MGI:95922,MGI:95923)
chr6 32948613 32953121 6p21.3 6p21.32 142855 HLA-DMA, RING6 Major histocompatibility complex, class II, DM alpha HLA-DMA 3108 ENSG00000204257 H2-DMa (MGI:95921)
chr6 32968659 32981504 6p21.3 6p21.32 601540 BRD2, RING3, FSRG1 Bromodomain-containing protein 2 BRD2 6046 ENSG00000204256 between HLA-DNA and HLA-DMA Brd2 (MGI:99495)
chr6 33004181 33009611 6p21.3 6p21.32 142930 HLA-DNA Major histocompatibility complex, class II, DN alpha HLA-DOA 3111 ENSG00000204252 H2-Oa (MGI:95924)
chr6 33064568 33080777 6p21.3 6p21.32 142880 HLA-DPA1, HLADP Major histocompatibility complex, class II, DP alpha-1 HLA-DPA1 3113 ENSG00000231389 2 different alpha, 2 different beta chains
chr6 33075925 33089695 6p21.3 6p21.32 142858 HLA-DPB1 Major histocompatibility complex, class II, DP beta-1 HLA-DPB1 3115 ENSG00000223865 {Beryllium disease, chronic, susceptibility to} (3)
chr6 33162691 33193008 6p21.3 6p21.32 120290 COL11A2, DFNA13, DFNB53, FBCG2, OSMEDA, OSMEDB Collagen XI, alpha-2 polypeptide COL11A2 1302 ENSG00000204248 45kb centromeric of HLA-DPB2; 3'--5'-cen Deafness, autosomal dominant 13, 601868 (3), Autosomal dominant; Deafness, autosomal recessive 53, 609706 (3), Autosomal recessive; Fibrochondrogenesis 2, 614524 (3), Autosomal recessive, Autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3), Autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3), Autosomal recessive Col11a2 (MGI:88447)
chr6 33193584 33200990 6p21.3 6p21.32 180246 RXRB Retinoid X receptor, beta RXRB 6257 ENSG00000204231 Rxrb (MGI:98215)
chr6 33200825 33204436 6p21.3 6p21.32 601416 SLC39A7, D6S2244E, HKE4 Solute carrier family 39 (zinc transporter), member 7 (Ke4 gene, mouse, homolog of) SLC39A7 7922 ENSG00000112473 Slc39a7 (MGI:95909)
chr6 33204636 33206830 6p21.3 6p21.32 601417 HSD17B8, FABGL, D6S2245E, HKE6 Hydroxysteroid (17-beta) dehydrogenase 8 (Ke6 gene, mouse, homolog of) HSD17B8 7923 ENSG00000204228 H2-Ke6 (MGI:95911)
chr6 33207834 33207943 6p21.32 6p21.32 611500 MRI219-1, MIRN219-1 Micro RNA 219-1 MIR219A1 407002
chr6 33208508 33212721 6p21.3 6p21.32 602045 RING1, RNF1 RING finger protein-1 RING1 6015 ENSG00000204227 Ring1 (MGI:1101770)
chr6 33250271 33271964 6p21.3 6p21.32 603443 VPS52, SACM2L Vacuolar protein sorting 52 homolog (S. cerevisiae) VPS52 6293 ENSG00000223501 Vps52 (MGI:1330304)
chr6 33272074 33276503 6p21.3 6p21.32 180473 RPS18 Ribosomal protein S18 RPS18 6222 ENSG00000231500 Rps18 (MGI:98146)
chr6 33277139 33278824 6p21.3 6p21.32 603095 B3GALT4 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 4 B3GALT4 8705 ENSG00000235863 B3galt4 (MGI:1859517)
chr6 33278206 33289526 6p21.3 6p21.32 611440 WDR46, BING4 WD repeat-containing protein 46 WDR46 9277 ENSG00000227057 Wdr46 (MGI:1931871)
chr6 33291653 33299387 6p21.3 6p21.32 602306 RAB2L RAB2, member RAS oncogene family-like RGL2 5863 ENSG00000237441 Rgl2 (MGI:107483)
chr6 33299693 33314386 6p21.3 6p21.32 601962 TAPBP, TPSN TAP-binding protein (tapasin) TAPBP 6892 ENSG00000231925 Bare lymphocyte syndrome, type I, 604571 (3), Autosomal recessive Tapbp (MGI:1201689)
chr6 33314404 33317941 6p21.3 6p21.32 611439 ZBTB22, BING1 Zinc finger- and BTB domain-containing protein 22 ZBTB22 9278 ENSG00000236104 Zbtb22 (MGI:1931870)
chr6 33318557 33323015 6p21.3 6p21.32 603186 DAXX Death-associated protein 6 DAXX 1616 ENSG00000204209 Daxx (MGI:1197015)
chr6 33391523 33410225 6p21.3 6p21.32 603763 KIFC1, KNSL2, HSET Kinesin family member C1 KIFC1 3833 ENSG00000237649 Kifc1,Kifc5b (MGI:2137414,MGI:109596)
chr6 33410750 33416452 6p21.3 6p21.32 602881 PHF1 PHD finger protein-1 PHF1 5252 ENSG00000112511 Phf1 (MGI:98647)
chr6 33416541 33418287 6p21.32 6p21.32 616953 CUTA, ACHAP, C6orf82 CutA, E. coli, homolog of CUTA 51596 ENSG00000112514 Cuta (MGI:1914925)
chr6 33420069 33453688 6p21.3 6p21.32 603384 SYNGAP1, MRD5 Synaptic Ras GTPase activating protein 1 SYNGAP1 8831 ENSG00000197283 Mental retardation, autosomal dominant 5, 612621 (3), Autosomal dominant Syngap1 (MGI:3039785)
chr6 33500000 36600000 6p21.31 612893 STQTL19 Stature quantitative trait locus 19 100302684 associated with rs1776897 {Stature QTL 19}, 612893 (2)
chr6 33572545 33580295 6p21.3-p21.2 6p21.31 600516 BAK1 BCL2-antagonist/killer 1 BAK1 578 ENSG00000030110 centromeric to MHC region Bak1 (MGI:1097161)
chr6 33621332 33696573 6pter-p21 6p21.31 147267 ITPR3 Inositol 1,4,5-triphosphate receptor, type 3 ITPR3 3710 ENSG00000096433 {Diabetes, type 1, susceptibility to}, 222100 (2), Autosomal recessive Itpr3 (MGI:96624)
chr6 33696760 33711750 6p21.31 6p21.31 614461 UQCC2, C6orf126, M19 Ubiquinol-cytochrome c reductase complex assembly factor 2 UQCC2 84300 ENSG00000137288 mutation identified in 1 MC3DN7 patient ?Mitochondrial complex III deficiency, nuclear type 7, 615824 (3), Autosomal recessive Uqcc2 (MGI:1914517)
chr6 33721475 33755670 6p21 6p21.31 606993 IHPK3, INSP6K3, IP6K3 Inositol hexaphosphate kinase 3 IP6K3 117283 ENSG00000161896 pseudogene on 6p24.1 Ip6k3 (MGI:3045325)
chr6 33771212 33794273 6p21.31 6p21.31 616312 LEMD2, NET25, CTRCT42 LEM domain-containing protein 2 LEMD2 221496 ENSG00000161904 Cataract 46, juvenile-onset, 212500 (3), Autosomal recessive Lemd2 (MGI:2385045)
chr6 33794671 33804015 6p21.3 6p21.31 158270 MLN Motilin MLN 4295 ENSG00000096395
chr6 34018642 34155621 6p21.3 6p21.31 604100 GRM4, MGLUR4 Glutamate receptor, metabotropic, 4 GRM4 2914 ENSG00000124493 Grm4 (MGI:1351341)
chr6 34236799 34246230 6p21 6p21.31 600701 HMGA1, HMGIY High-mobility group AT-hook 1 HMGA1 3159 ENSG00000137309 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant Hmga1,Hmga1b (MGI:96161,MGI:96160)
chr6 34246379 34249107 6p21.3 6p21.31 611419 C6orf1, LBH Chromosome 6, open reading frame 1 SMIM29 221491 ENSG00000186577 opposite strand, tail-to-tail with HMGA1
chr6 34417453 34426124 6p 6p21.31 603632 RPS10, DBA9 Ribosomal protein S10 RPS10 6204 ENSG00000124614 Diamond-Blackfan anemia 9, 613308 (3), Autosomal dominant Rps10 (MGI:1914347)
chr6 34466060 34536261 6p21 6p21.31 606512 PACSIN1, KIAA1379 Protein kinase C and casein kinase substrate in neurons 1 PACSIN1 29993 ENSG00000124507 Pacsin1 (MGI:1345181)
chr6 34537799 34556332 6p21.3 6p21.31 608144 SPDEF, PDEF SAM pointed domain-containing ETS transcription factor SPDEF 25803 ENSG00000124664 Spdef (MGI:1353422)
chr6 34587279 34696849 6p21.31 6p21.31 612217 C6orf106 Chromosome 6 open reading frame 106 C6orf106 64771 ENSG00000196821 D17Wsu92e (MGI:106281)
chr6 34757093 34773856 6p21.31 6p21.31 603522 SNRPC Small nuclear ribonucleoprotein polypeptide C SNRPC 6631 ENSG00000124562
chr6 34877777 34888070 6p21.31 6p21.31 600772 TAF11, TAF2I, TAFII28 TAF11 RNA polymerase II, TATA box-binding protein-associated factor, 28kD TAF11 6882 ENSG00000064995 Taf11 (MGI:1916026)
chr6 34889260 35097991 6p21.3 6p21.31 608994 ANKS1, ODIN, KIAA0229 Ankyrin repeat and sterile alpha motif domains-containing protein 1 ANKS1A 23294 ENSG00000064999 Anks1 (MGI:2446180)
chr6 35118070 35141409 6p21.3-p21.2 6p21.31 186982 TCP11, D6S230E T-complex homolog tcp-11 TCP11 6954 ENSG00000124678 expressed only in testis at same time as ZNF76 (day 20 after birth) Tcp11 (MGI:98544)
chr6 35214046 35253078 6p21.3 6p21.31 614708 SCUBE3 Signal peptide-, CUB domain-, and EGF-like domains-containing protein 3 SCUBE3 222663 ENSG00000146197 Scube3 (MGI:3045253)
chr6 35259472 35295986 6p21.3-p21.2 6p21.31 194549 ZNF76, D6S229E Zinc finger protein-76 (expressed in testis) ZNF76 7629 ENSG00000065029 same 300kb fragment as TCP11 Zfp523 (MGI:2687278)
chr6 35297817 35321770 6p21.31 6p21.31 610094 DEF6, IBP, SLAT Def6, mouse, homolog of DEF6 50619 ENSG00000023892 Def6 (MGI:1346328)
chr6 35342557 35428190 6p21.2-p21.1 6p21.31 600409 PPARD, NUC1 Peroxisome proliferative activated receptor, delta PPARD 5467 ENSG00000112033 Ppard (MGI:101884)
chr6 35452338 35467105 6p22-p21 6p21.31 613976 FANCE, FACE Fanconi anemia, complementation group E gene FANCE 2178 ENSG00000112039 Fanconi anemia, complementation group E, 600901 (3), Autosomal recessive Fance (MGI:1920025)
chr6 35468400 35470780 6p21.31 6p21.31 615660 RPL10A, CSA19 Ribosomal protein L10A RPL10A 4736 ENSG00000198755 Rpl10a (MGI:1343877)
chr6 35473596 35497083 6p21.3 6p21.31 603170 TEAD3, TEF5, TEAD5 TEA domain family member 3 (transcriptional enhancer factor 5) TEAD3 7005 ENSG00000007866 Tead3 (MGI:109241)
chr6 35497873 35512937 6p21.3 6p21.31 602280 TULP1, RP14, LCA15 Tubby-like protein-1 TULP1 7287 ENSG00000112041 Leber congenital amaurosis 15, 613843 (3), Autosomal recessive; Retinitis pigmentosa 14, 600132 (3), Autosomal recessive Tulp1 (MGI:109571)
chr6 35573584 35728582 6p21.3-p21.2 6p21.31 602623 FKBP5, FKBP51 FK506-binding protein 5 FKBP5 2289 ENSG00000096060 {Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3) Fkbp5 (MGI:104670)
chr6 35794981 35797343 6pter-p21.1 6p21.31 120105 CLPS Colipase, pancreatic CLPS 1208 ENSG00000137392 Clps (MGI:88421)
chr6 35805293 35824074 6p21.3 6p21.31 609427 LHFPL5, TMHS, DFNB67 LHFP-like protein 5 LHFPL5 222662 ENSG00000197753 Deafness, autosomal recessive 67, 610265 (3), Autosomal recessive Lhfpl5 (MGI:1915382)
chr6 35833033 35921179 6p21.31 6p21.31 601939 SRPK1 Protein kinase, serine/arginine-specific, 1 SRPK1 6732 ENSG00000096063 Srpk1 (MGI:106908)
chr6 35943513 36024635 6p21.31 6p21.31 608480 SLC26A8, TAT1, SPGF3 Solute carrier family 26 (sulfate transporter), member 8 SLC26A8 116369 ENSG00000112053 Spermatogenic failure 3, 606766 (3), Autosomal dominant Slc26a8 (MGI:2385046)
chr6 36027676 36122963 6p21.3-p21.2 6p21.31 600289 MAPK14, CSBP1 Mitogen-activated protein kinase 14 (cytokine suppressive anti-inflammatory drug binding protein 1) MAPK14 1432 ENSG00000112062 Mapk14 (MGI:1346865)
chr6 36196772 36232789 6p21.31 6p21.31 616856 BRPF3, KIAA1286 Bromodomain- and PHD finger-containing protein 3 BRPF3 27154 ENSG00000096070 Brpf3 (MGI:2146836)
chr6 36242522 36313954 6p21.31 6p21.31 612121 PNPLA1, ARCI10 Patatin-like phospholipase domain-containing protein 1 PNPLA1 285848 ENSG00000180316 Ichthyosis, congenital, autosomal recessive 10, 615024 (3), Autosomal recessive Pnpla1 (MGI:3617850)
chr6 36354220 36387799 6p21 6p21.31 605255 ETV7, TEL2, TELB ETS variant gene 7 ETV7 51513 ENSG00000010030
chr6 36442766 36491142 6p21.31 6p21.31 615932 KCTD20 Potassium channel tetramerization domain-containing protein 20 KCTD20 222658 ENSG00000112078 Kctd20 (MGI:1914239)
chr6 36493881 36547515 6p21 6p21.31 606964 STK38, NDR Serine/threonine protein kinase 38 STK38 11329 ENSG00000112079 Stk38 (MGI:2442572)
chr6 36594312 36604466 6p21 6p21.3-p21.2 603364 SRSF3, SFRS3, SRP20 Splicing factor, arginine/serine-rich, 3 SRSF3 6428 ENSG00000112081 Srsf3 (MGI:98285)
chr6 36600000 40500000 6p21.2 615080 AD17 Alzheimer disease 17 101290498 associated with rs75932628T Alzheimer disease 17, 615080 (2)
chr6 36600000 40500000 6p21.2 616343 TP53COR1 Tumor protein p53 pathway corepressor 1, noncoding TP53COR1 102800311
chr6 36673620 36675125 6p21.2 6p21.2 617179 PANDAR Promoter of CDKN1A antisense DNA damage-activated RNA PANDAR 101154753
chr6 36676459 36687338 6p21.2 6p21.2 116899 CDKN1A, WAF1, CIP1, CDKN1 Cyclin-dependent kinase inhibitor 1A (p21, Cip1) CDKN1A 1026 ENSG00000124762 Cdkn1a (MGI:104556)
chr6 36740772 36839443 6p21 6p21.2 604209 CPNE5, CPN5 Copine V CPNE5 57699 ENSG00000124772 Cpne5 (MGI:2385908)
chr6 36834885 36928963 6p21.2 6p21.2 616642 C6orf89, BRAP, AMFION Bombesin receptor-activated protein C6orf89 221477 ENSG00000198663 BC004004 (MGI:2136782)
chr6 36854828 36875023 6p21.1 6p21.2 601301 PPIL1, CYPL1 Peptidylprolyl isomerase (cyclophilin)-like 1 PPIL1 51645 ENSG00000137168 previously assigned to chr.2 Ppil1 (MGI:1916066)
chr6 36968134 36987170 6p21.2 6p21.2 610449 MTCH1, PSAP Mitochondrial carrier homolog 1 MTCH1 23787 ENSG00000137409 Mtch1 (MGI:1929261)
chr6 37005646 37029071 6p21.2 6p21.2 605091 FGD2 FYVE, RhoGEF, and PH domain-containing protein 2 FGD2 221472 ENSG00000146192 Fgd2 (MGI:1347084)
chr6 37170145 37175427 6p21.2 6p21.2 164960 PIM1 Oncogene PIM1 PIM1 5292 ENSG00000137193 Pim1 (MGI:97584)
chr6 37257703 37332969 6p21.2 6p21.2 616880 TBC1D22B, C6orf197 TBC1 domain family, member 22B TBC1D22B 55633 ENSG00000065491 Tbc1d22b (MGI:2681867)
chr6 37353971 37394737 6p21.3 6p21.2 611685 RNF8, KIAA0646 Ring finger protein 8 RNF8 9025 ENSG00000112130 Rnf8 (MGI:1929069)
chr6 37433130 37482843 6p21.2 6p21.2 616189 CMTR1, MTR1, ISG95, FTSJD2, KIAA0082 CAP methyltransferase 1 CMTR1 23070 ENSG00000137200 Cmtr1 (MGI:1921407)
chr6 37632507 37697989 6p21 6p21.2 609626 MDGA1, GPIM MAM domain-containing glycosylphosphatidylinositol anchor 1 MDGA1 266727 ENSG00000112139 Mdga1 (MGI:1922012)
chr6 37819530 38154623 6pter-p22.3 6p21.2 607455 ZFAND3, TEX27 Zinc finger AN1 domain-containing protein 3 ZFAND3 60685 ENSG00000156639 Zfand3 (MGI:1096572)
chr6 38168450 38640540 6p21 6p21.2 611237 BTBD9, KIAA1880 BTB/POZ domain-containing protein 9 BTBD9 114781 ENSG00000183826 Btbd9 (MGI:1916625)
chr6 38675924 38703175 6p21.3-p21.2 6p21.2 138750 GLO1 Glyoxalase I GLO1 2739 ENSG00000124767 ~3cM proximal to HLA Glo1 (MGI:95742)
chr6 38715328 39030797 6p21 6p21.2 603337 DNAH8, HDHC9 Dynein, axonemal, heavy chain 8 DNAH8 1769 ENSG00000124721 Dnah8 (MGI:107714)
chr6 39048780 39091302 6p21 6p21.2 138032 GLP1R Glucagon-like peptide 1 receptor GLP1R 2740 ENSG00000112164 Glp1r (MGI:99571)
chr6 39188970 39229474 6p21 6p21.2 603493 KCNK5, TASK2 Potassium channel, subfamily K, member 5 KCNK5 8645 ENSG00000164626 Kcnk5 (MGI:1336175)
chr6 39299000 39314460 6p21.2-p21.1 6p21.2 607370 KCNK17, TASK4, TALK2 Potassium channel, subfamily K, member 17 KCNK17 89822 ENSG00000124780
chr6 39314565 39322991 6p21.2-p21.1 6p21.2 607369 KCNK16, TALK1 Potassium channel, subfamily K, member 16 KCNK16 83795 ENSG00000095981 Kcnk16 (MGI:1921821)
chr6 39329989 39725422 6p21 6p21.2 613919 KIF6 Kinesin family member 6 KIF6 221458 ENSG00000164627 Kif6 (MGI:1098238)
chr6 39792365 39904876 6p21.2 6p21.2 606627 DAAM2, KIAA0381 Dishevelled-associated activator of morphogenesis 2 DAAM2 23500 ENSG00000146122 Daam2 (MGI:1923691)
chr6 39904257 39934550 6p21.3 6p21.2 603707 MOCS1, MOCODA Molybdenum cofactor synthesis-1 MOCS1 4337 ENSG00000124615 Molybdenum cofactor deficiency A, 252150 (3), Autosomal recessive
chr6 40378284 40379898 6p21.2-p21.1 6p21.2 615676 TDRG1, LINC00532 Testis development-related gene 1, noncoding TDRG1 732253
chr6 40391588 40587463 6p21.2 6p21.2-p21.1 612808 LRFN2, SALM1, KIAA1246 Leucine-rich repeat and fibronectin type III domain-containing protein 2 LRFN2 57497 ENSG00000156564 Lrfn2 (MGI:1917780)
chr6 40500000 53000000 6p21.1-p12.2 607498 MGR3 Migraine with or without aura, susceptibility to, 3 337892 lod 5.78 at D6S452 {Migraine with or without aura, susceptibility to, 3}, 607498 (2), Autosomal dominant
chr6 40500000 46200000 6p21.1 132100 PPR1 Photoparoxysmal response 1 100528023 max lod at D6S2427 Photoparoxysmal response 1, 132100 (2), Autosomal dominant
chr6 41026900 41039198 6p21.1 6p21.1 617464 UNC5CL, ZUD Unc5 family C-terminal-like protein UNC5CL 222643 ENSG00000124602 Unc5cl (MGI:1923839)
chr6 41053200 41064890 6p21 6p21.1 604797 APOBEC2 Apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2 APOBEC2 10930 ENSG00000124701 Apobec2 (MGI:1343178)
chr6 41066787 41097786 6p21.2 6p21.1 614393 OARD1, C6orf130 O-acyl-ADP-ribose deacylase 1 OARD1 221443 ENSG00000124596 Oard1 (MGI:2146818)
chr6 41072967 41102406 6p21.3 6p21.1 189903 NFYA Transcription factor NF-Y, A subunit NFYA 4800 ENSG00000001167 Nfya (MGI:97316)
chr6 41149096 41158449 6p21.1 6p21.1 609714 TREML1, TLT1 Triggering receptor expressed on myeloid cells-like protein 1 TREML1 340205 ENSG00000161911 Treml1 (MGI:1918576)
chr6 41158505 41163185 6p21.2 6p21.1 605086 TREM2 Triggering receptor expressed on myeloid cells 2 TREM2 54209 ENSG00000095970 Nasu-Hakola disease, 221770 (3), Autosomal recessive Trem2 (MGI:1913150)
chr6 41189748 41201232 6p21.1 6p21.1 609715 TREML2, TLT2 Triggering receptor expressed on myeloid cells-like protein 2 TREML2 79865 ENSG00000112195 Treml2 (MGI:2147038)
chr6 41208553 41217946 6p21.1 6p21.1 609716 TREML3, TLT3 Triggering receptor expressed on myeloid cells-like protein 3 TREML3P 340206
chr6 41228286 41239385 6p21 6p21.1 614664 TREML4, TLT4 Triggering receptor expressed on myeloid cells-like protein 4 TREML4 285852 ENSG00000188056
chr6 41267384 41286744 6p21.1 6p21.1 605085 TREM1 Triggering receptor expressed on myeloid cells 1 TREM1 54210 ENSG00000124731 Trem1 (MGI:1930005)
chr6 41335619 41350886 6p21.1 6p21.1 604531 NCR2, LY95, NKP44 Natural cytotoxicity triggering receptor 2 (lymphocyte antigen 95, mouse, homolog of) NCR2 9436 ENSG00000096264
chr6 41546425 41602383 6p21.1 6p21.1 608924 FOXP4 Forkhead box P4 FOXP4 116113 ENSG00000137166 Foxp4 (MGI:1921373)
chr6 41637019 41654245 6p21 6p21.1 604971 MDFI MYOD family inhibitor MDFI 4188 ENSG00000112559 Mdfi (MGI:107687)
chr6 41683977 41736258 6p21 6p21.1 600744 TFEB, TCFEB Transcription factor EB TFEB 7942 ENSG00000112561 Tfeb (MGI:103270)
chr6 41736710 41747400 6p21.3-p21.1 6p21.1 169740 PGC Preprogastricsin PGC 5225 ENSG00000096088 cen-PGG-GLO1-HLA Pgc (MGI:98909)
chr6 41780761 41787371 6p21.31 6p21.1 611389 PRICKLE4, C6orf49, OBTP Prickle, Drosophila, homolog of, 4 PRICKLE4 29964 ENSG00000278224 Prickle4 (MGI:2685785)
chr6 41787442 41789895 6p21.1 6p21.1 616168 TOMM6, TOM6 Translocase of outer mitochondrial membrane 6, yeast, homolog of TOMM6 100188893 ENSG00000214736 Tomm6 (MGI:1913369)
chr6 41905352 41921146 6p21.1 6p21.1 612915 MED20, TRFP Mediator complex subunit 20 MED20 9477 ENSG00000124641 Med20 (MGI:1929648)
chr6 41921226 41933045 6p21.1 6p21.1 603871 BYSL By the ribosomal protein S6 gene, Drosophila, homolog-like (bystin) BYSL 705 ENSG00000112578 Bysl (MGI:1858419)
chr6 41934932 42048893 6p21 6p21.1 123834 CCND3 Cyclin D3 CCND3 896 ENSG00000112576 pseudogene also on 6p21 Ccnd3 (MGI:88315)
chr6 42155376 42180082 6p21.1 6p21.1 600364 GUCA1A, GCAP, COD3, CORD14 Guanylate cyclase activator 1A, retina GUCA1A 2978 ENSG00000048545 Cone dystrophy-3, 602093 (3), Autosomal dominant; Cone-rod dystrophy 14, 602093 (3), Autosomal dominant Guca1a (MGI:102770)
chr6 42183283 42194955 6p21.1 6p21.1 602275 GUCA1B, GCAP2, GUCA2, RP48 Guanylate cyclase activator 1B, retina GUCA1B 2979 ENSG00000112599 Retinitis pigmentosa 48, 613827 (3) Guca1b (MGI:1194489)
chr6 42206800 42217894 6p21.1-p12.1 6p21.1 611976 MRPS10 Mitochondrial ribosomal protein S10 MRPS10 55173 ENSG00000048544 5 pseudogenes on chromosomes 1, 3, and 9 Mrps10 (MGI:1928139)
chr6 42224932 42452215 6p21.1 6p21.1 610322 TRERF1, TREP132 Transcriptional regulating factor 1 TRERF1 55809 ENSG00000124496 Trerf1 (MGI:2442086)
chr6 42563904 42693504 6p21.1 6p21.1 609134 UBR2, C6orf133, KIAA0349 Ubiquitin-protein ligase E3 component N-recognin 2 UBR2 23304 ENSG00000024048 Ubr2 (MGI:1861099)
chr6 42694508 42723038 6p21.1-cen 6p21.1 179605 PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1 Peripherin 2, mouse, homolog of PRPH2 5961 ENSG00000112619 digenic RP with ROM1 Choroidal dystrophy, central areolar 2, 613105 (3), Autosomal dominant; Leber congenital amaurosis 18, 608133 (3), Autosomal recessive, Autosomal dominant; Macular dystrophy, patterned, 1, 169150 (3), Autosomal dominant; Macular dystrophy, vitelliform, 3, 608161 (3), Autosomal dominant; Retinitis pigmentosa 7 and digenic, 608133 (3), Autosomal recessive, Autosomal dominant; Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant Prph2 (MGI:102791)
chr6 42744495 42746145 6p21.1 6p21.1 602971 TBCC, CFC Tubulin-specific chaperone C TBCC 6903 ENSG00000124659 Tbcc (MGI:1919976)
chr6 42879162 42889895 6p21.1 6p21.1 617417 RPL7L1 Ribosomal protein L7-like 1 RPL7L1 285855 ENSG00000146223 Rpl7l1 (MGI:1913479)
chr6 42915596 42925837 6p21.3 6p21.1 606817 PTCRA Pre-T-cell receptor, alpha-chain precursor PTCRA 171558 ENSG00000171611 Ptcra (MGI:104857)
chr6 42928001 42939286 6pter-p12 6p21.1 610774 CNPY3, TNRC5, PRAT4A, ERDA5, EIEE60 Canopy 3, zebrafish, homolog of CNPY3 10695 ENSG00000137161 Epileptic encephalopathy, early infantile, 60, 617929 (3), Autosomal recessive Cnpy3 (MGI:1919279)
chr6 42960753 42963879 6p12 6p21.1 606628 GNMT Glycine N-methyltransferase GNMT 27232 ENSG00000124713 Glycine N-methyltransferase deficiency, 606664 (3), Autosomal recessive Gnmt (MGI:1202304)
chr6 42963872 42980223 6p21.1 6p21.1 601498 PEX6, PXAAA1, PAF2, PBD4A, PDB4B, HMLR2 Peroxisomal biogenesis factor 6 (peroxisomal AAA-type ATPase 1) PEX6 5190 ENSG00000124587 Heimler syndrome 2, 616617 (3), Autosomal recessive; Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3), Autosomal recessive; Peroxisome biogenesis disorder 4B, 614863 (3), Autosomal recessive, Autosomal dominant Pex6 (MGI:2385054)
chr6 42980343 43017085 6p23-q12 6p21.1 143170 MEA1, MEA Male-enhanced antigen 1 MEA1 4201 ENSG00000124733 Mea1 (MGI:96957)
chr6 42984498 43012344 6p21.1 6p21.1 601646 PPP2R5D, MRD35 Protein phosphatase-2, regulatory subunit B (B56), delta isoform PPP2R5D 5528 ENSG00000112640 Mental retardation, autosomal dominant 35, 616355 (3), Autosomal dominant Ppp2r5d (MGI:2388481)
chr6 43014102 43021297 6p21.1 6p21.1 611248 KLHDC3, PEAS KELCH domain-containing protein 3 KLHDC3 116138 ENSG00000124702 Klhdc3 (MGI:2651568)
chr6 43021601 43029598 6p21.1 6p21.1 613475 RRP36, C6orf153 Ribosomal RNA-processing factor, 36 RRP36 88745 ENSG00000124541 Rrp36 (MGI:2385053)
chr6 43037616 43053944 6p21.1 6p21.1 609577 CUL7, 3M1 Cullin 7 CUL7 9820 ENSG00000044090 3-M syndrome 1, 273750 (3), Autosomal recessive Cul7 (MGI:1913765)
chr6 43054028 43060179 6p21.3 6p21.1 611822 MRPL2 Mitochondrial ribosomal protein L2 MRPL2 51069 ENSG00000112651 Mrpl2 (MGI:1351622)
chr6 43076267 43161719 6p21.1-p12.2 6p21.1 601890 PTK7 PTK7 protein tyrosine kinase 7 PTK7 5754 ENSG00000112655 Ptk7 (MGI:1918711)
chr6 43171294 43181505 6p21.1 6p21.1 600589 SRF Serum response factor SRF 6722 ENSG00000112658 Srf (MGI:106658)
chr6 43182169 43224586 6p21.1 6p21.1 607489 CUL9, PARC, KIAA0708 Cullin 9 CUL9 23113 ENSG00000112659 Cul9 (MGI:1925559)
chr6 43295709 43305537 6p21.2-p21.1 6p21.1 604995 SLC22A7, OAT2 Solute carrier family 22 (organic anion transporter), member 7 SLC22A7 10864 ENSG00000137204 Slc22a7 (MGI:1859559)
chr6 43336069 43369442 6p21.1 6p21.1 617512 ZNF318, TZF, ZFP318 Zinc finger protein 318 ZNF318 24149 ENSG00000171467 Zfp318 (MGI:1889348)
chr6 43427537 43451993 6p21.1 6p21.1 612509 ABCC10, MRP7 ATP-binding cassette, subfamily C, member 10 ABCC10 89845 ENSG00000124574 Abcc10 (MGI:2386976)
chr6 43477522 43506555 6p21.1 6p21.1 612658 TJAP1, PILT, TJP4 Tight junction-associated protein 1 TJAP1 93643 ENSG00000137221 Tjap1 (MGI:1921344)
chr6 43511826 43516989 6p21.2-p21.1 6p21.1 609775 YIPF3, KLIP1 YIP1 domain family, member 3 YIPF3 25844 ENSG00000137207 Yipf3 (MGI:106280)
chr6 43517023 43562403 6p22.3 6p21.1 610060 POLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3, HLD11 Polymerase I, RNA, subunit C POLR1C 9533 ENSG00000171453 Leukodystrophy, hypomyelinating, 11, 616494 (3), Autosomal recessive; Treacher Collins syndrome 3, 248390 (3), Autosomal recessive Polr1c (MGI:103288)
chr6 43522329 43576074 6p21.1 6p21.1 607845 XPO5, KIAA1291 Exportin 5 XPO5 57510 ENSG00000124571 Xpo5 (MGI:1913789)
chr6 43576140 43620522 6p21.1-p12 6p21.1 603968 POLH, XPV Polymerase, DNA, eta POLH 5429 ENSG00000170734 Xeroderma pigmentosum, variant type, 278750 (3), Autosomal recessive Polh (MGI:1891457)
chr6 43620480 43631308 6p21.2-p21.1 6p21.1 607434 GTPBP2 GTP-binding protein 2 GTPBP2 54676 ENSG00000172432 Gtpbp2 (MGI:1860138)
chr6 43645029 43671010 6p21.1 6p21.1 612648 RSPH9, CILD12 Radial spoke head 9, Chlamydomonas, homolog of RSPH9 221421 ENSG00000172426 Ciliary dyskinesia, primary, 12, 612650 (3) Rsph9 (MGI:1922814)
chr6 43671196 43687811 6p21.3 6p21.1 611981 MRPS18A, MRPS18-3 Mitochondrial ribosomal protein S18A MRPS18A 55168 ENSG00000096080 Mrps18a (MGI:1915815)
chr6 43770208 43786486 6p12 6p21.1 192240 VEGF, MVCD1 Vascular endothelial growth factor VEGFA 7422 ENSG00000112715 {Microvascular complications of diabetes 1}, 603933 (3) Vegfa (MGI:103178)
chr6 44113453 44127490 6p21.3 6p21.1 611827 MRPL14, MRPL32 Mitochondrial ribosomal protein L14 MRPL14 64928 ENSG00000180992 Mrpl14 (MGI:1333864)
chr6 44158810 44184401 6p12 6p21.1 604822 CAPN11 Calpain 11 CAPN11 11131 ENSG00000137225 Capn11 (MGI:1352490)
chr6 44219504 44234150 6p21.2-p21.1 6p21.1 602193 SLC29A1, ENT1 Solute carrier family 29 (nucleoside transporters), member 1 (equilibrative nucleoside transporter-1) SLC29A1 2030 ENSG00000112759 Slc29a1 (MGI:1927073)
chr6 44246165 44253887 6p21.1 6p21.1 140572 HSP90AB1, HSPCB, HSPC2, HSP90B Heas-shock protein, 90kD, alpha, class B, member 1 HSP90AB1 3326 ENSG00000096384 Hsp90ab1 (MGI:96247)
chr6 44254100 44257889 6p12.1-p11.2 6p21.1 610788 SLC35B2, PAPST1, SLL Solute carrier family 35 (3'-phosphoadenosine 5')-phosphosulfate transporter), member B2 SLC35B2 347734 ENSG00000157593 Slc35b2 (MGI:1921086)
chr6 44258165 44265787 6p21.1 6p21.1 604548 NFKBIE, IKBE Nuclear factor of kappa light chain gene enhancer in B cells inhibitor, epsilon NFKBIE 4794 ENSG00000146232 Nfkbie (MGI:1194908)
chr6 44280159 44297804 6p21.3-cen 6p21.1 186975 TCTE1 T-complex-associated-testis-expressed-1 TCTE1 202500 ENSG00000146221 Tcte1 (MGI:98640)
chr6 44297849 44313357 6p21.1 6p21.1 612035 AARS2, KIAA1270, MTALARS, COXPD8, LKENP Alanyl-tRNA synthetase 2 AARS2 57505 ENSG00000124608 Combined oxidative phosphorylation deficiency 8, 614096 (3), Autosomal recessive; Leukoencephalopathy, progressive, with ovarian failure, 615889 (3), Autosomal recessive Aars2 (MGI:2681839)
chr6 44387513 44450423 6p21 6p21.1 602868 CDC5L Cell division cycle 5, S. pombe, homolog-like CDC5L 988 ENSG00000096401 Cdc5l (MGI:1918952)
chr6 44809056 45378050 6p21.1 6p21.1 602947 SUPT3H, SPT3 Suppressor of Ty 3, S. cerevisiae, homolog of SUPT3H 8464 ENSG00000196284 Supt3 (MGI:1923723)
chr6 45328316 45551081 6p21 6p21.1 600211 RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD Runt-related transcription factor 2 RUNX2 860 ENSG00000124813 Cleidocranial dysplasia, 119600 (3), Autosomal dominant; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3), Autosomal dominant; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3), Autosomal dominant; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3), Autosomal dominant Runx2 (MGI:99829)
chr6 45898450 46129808 6p21.1-p12.1 6p21.1 607293 CLIC5, DFNB103 Chloride intracellular channel 5 CLIC5 53405 ENSG00000112782 mutation identified in 1 DFNB103 family ?Deafness, autosomal recessive 103, 616042 (3), Autosomal recessive Clic5 (MGI:1917912)
chr6 46129963 46146698 6p21.1 6p21.1 617000 ENPP4, NPP4, KIAA0879 Ectonucleotide pyrophosphatase/phosphodiesterase 4 ENPP4 22875 ENSG00000001561 Enpp4 (MGI:2682634)
chr6 46159181 46171009 6p21.1 6p21.1 617001 ENPP5, NPP5 Ectonucleotide pyrophosphatase/phosphodiesterase 5 ENPP5 59084 ENSG00000112796 Enpp5 (MGI:1933830)
chr6 46200000 69200000 6p12-q12 609026 CTRCT28, ARCC1 Cataract 28 493862 {Cataract 28, age-related cortical, susceptibility to}, 609026 (2)
chr6 46200000 57200000 6p12 164100 NYS2, NYSA Nystagmus 2, congenital, autosomal dominant NYS2 4933 Nystagmus 2, congenital, autosomal dominant, 164100 (2), Autosomal dominant
chr6 46220729 46492066 6p12.3 6p12.3 604876 RCAN2, ZAKI4, DSCR1L1, MCIP2, CSP2 Regulator of calcineurin 2 RCAN2 10231 ENSG00000172348 Rcan2 (MGI:1858219)
chr6 46549579 46652848 6p21.1-p11.2 6p12.3 605994 CYP39A1 Cytochrome P450, subfamily XXXIXA (oxysterol 7-alpha-hydroxylase), polypeptide 1 CYP39A1 51302 ENSG00000146233 Cyp39a1 (MGI:1927096)
chr6 46652914 46678189 6p12.3 6p12.3 613725 SLC25A27, UCP4 Solute carrier family 25, member 17 SLC25A27 9481 ENSG00000153291 Slc25a27 (MGI:1921261)
chr6 46680267 46704318 6p12.3 6p12.3 611200 TDRD6 TUDOR domain-containing protein 6 TDRD6 221400 ENSG00000180113 Tdrd6 (MGI:2679727)
chr6 46700557 46735835 6p21.2-p12 6p12.3 601690 PLA2G7, PAFAH, PAFAD Phospholipase A2, group VII (platelet-activating factor acetylhydrolase) PLA2G7 7941 ENSG00000146070 {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {Atopy, susceptibility to}, 147050 (3), Autosomal dominant; Platelet-activating factor acetylhydrolase deficiency, 614278 (3), Autosomal recessive Pla2g7 (MGI:1351327)
chr6 46793356 46845986 6p21.2-p21.1 6p12.3 600388 MEP1A Meprin A, alpha MEP1A 4224 ENSG00000112818 Mep1a (MGI:96963)
chr6 46997702 47042362 6p12.3 6p12.3 617430 ADGRF1, GPR110 Adhesion G protein-coupled receptor F1 ADGRF1 266977 ENSG00000153292 Adgrf1 (MGI:1924846)
chr6 47477745 47627262 6p12 6p12.3 604241 CD2AP, CMS CD2-associated protein CD2AP 23607 ENSG00000198087 Glomerulosclerosis, focal segmental, 3, 607832 (3) Cd2ap (MGI:1330281)
chr6 47698544 47722020 6p12.3 6p12.3 614268 ADGRF4, GPR115 Adhesion G protein-coupled receptor F4 ADGRF4 221393 ENSG00000153294 Adgrf4 (MGI:1925499)
chr6 47782036 47831087 6p12.3 6p12.3 609042 OPN5, GRP136, PGR12 Opsin 5 OPN5 221391 ENSG00000124818 Opn5 (MGI:2662912)
chr6 47858597 48111131 6p21.3 6p12.3 616908 PTCHD4, PTCH53, C6orf138 Patched domain-containing protein 4 PTCHD4 442213 ENSG00000244694 Ptchd4 (MGI:1920485)
chr6 49430359 49463327 6p21 6p12.3 609058 MUT, MCM Methylmalonyl Coenzyme A mutase MUT 4594 ENSG00000146085 Methylmalonic aciduria, mut(0) type, 251000 (3), Autosomal recessive Mut (MGI:97239)
chr6 49463326 49493106 6p12.3 6p12.3 611506 CENPQ Centromeric protein Q CENPQ 55166 ENSG00000031691 Cenpq (MGI:1933744)
chr6 49499957 49528063 6p12.3 6p12.3 614763 GLYATL3 Glycine N-acyltransferase-like 3 GLYATL3 389396 ENSG00000203972 Glyatl3 (MGI:3647683)
chr6 49605174 49636873 6p21.1-p11 6p12.3 180297 RHAG, RH50A, OHST Rhesus blood group-associated glycoprotein RHAG 6005 ENSG00000112077 Anemia, hemolytic, Rh-null, regulator type, 268150 (3), Autosomal dominant; Overhydrated hereditary stomatocytosis, 185000 (3), Autosomal dominant; Rh-mod syndrome (3) Rhag (MGI:1202713)
chr6 49676664 49714197 6p12 6p12.3 187430 CRISP2, TPX1, TSP1 Cysteine-rich secretory protein 2 CRISP2 7180 ENSG00000124490 Crisp2 (MGI:98815)
chr6 49785650 49787339 6p21.1-p12 6p12.3 172270 PGK2 Phosphoglycerate kinase-2 (testicular PGK) PGK2 5232 ENSG00000170950 pseudogene on chr.12 Pgk2 (MGI:97563)
chr6 49833938 49877095 6p21.2-p21.1 6p12.3 601193 CRISP1, AEGL1 Cysteine-rich secretory protein 1 CRISP1 167 ENSG00000124812 Crisp4 (MGI:1925331)
chr6 49960291 49964104 6p12 6p12.3 615243 DEFB114, DEFB14 Defensin, beta, 114 DEFB114 245928 ENSG00000177684
chr6 50713543 50773032 6p21.1-p12.1 6p12.3 610161 TFAP2D, TFAP2BL1 Transcription factor AP2-delta TFAP2D 83741 ENSG00000008197 Tfap2d (MGI:2153466)
chr6 50817691 50847618 6p12 6p12.3 601601 TFAP2B, CHAR, PDA2 Transcription factor AP-2 beta (activating enhancer-binding protein 2 beta) TFAP2B 7021 ENSG00000008196 Char syndrome, 169100 (3), Autosomal dominant; Patent ductus arteriosus 2, 617035 (3), Autosomal dominant Tfap2b (MGI:104672)
chr6 51614684 52087624 6p12.3-p12.2 6p12.3-p12.2 606702 FCYT, PKHD1, ARPKD, PKD4 Fibrocystin PKHD1 5314 ENSG00000170927 Polycystic kidney disease 4, with or without hepatic disease, 263200 (3), Autosomal recessive Pkhd1 (MGI:2155808)
chr6 51800000 69200000 6p12.2-q12 614345 MRT24 Mental retardation, autosomal recessive 24 MRT24 100852402 between rs651733 and rs1508668 Mental retardation, autosomal recessive 24, 614345 (2), Autosomal recessive
chr6 52144348 52144433 6p12.2 6p12.2 611599 MIR206, MIRN206 Micro RNA 206 MIR206 406989
chr6 52146813 52151022 6p12.2 6p12.2 614933 LINCMD1 Long intergenic noncoding RNA, muscle differentiation 1 LINCMD1 101154644
chr6 52148922 52149040 6p12.2 6p12.2 610946 MIR133B, MIRN133B Micro RNA 133B MIR133B 442890
chr6 52186386 52190637 6p12.2 6p12.2 603149 IL17A, IL17, CTLA8 Interleukin-17a IL17A 3605 ENSG00000112115 previously mapped to 2q31 Il17a (MGI:107364)
chr6 52236680 52245688 6p12 6p12.2 606496 IL17F, ML1, CANDF6 Interleukin 17F IL17F 112744 ENSG00000112116 mutation identified in 1 CANDF6 family ?Candidiasis, familial, 6, autosomal dominant, 613956 (3) Il17f (MGI:2676631)
chr6 52264013 52284880 6p12 6p12.2 602693 MCM3 Minichromosome maintenance, S. cerevisiae, homolog of, 3 MCM3 4172 ENSG00000112118 Mcm3 (MGI:101845)
chr6 52362127 52407776 6p12 6p12.2 607780 PAQR8, C6orf33, LMPB1, MPRB Progestin and ADIPOQ receptor family, member 8 PAQR8 85315 ENSG00000170915 Paqr8 (MGI:1921479)
chr6 52420195 52495784 6p12-p11 6p12.2 608815 EFHC1, FLJ10466, EJM1, JAE, EJA1 EF hand domain (C-terminal)-containing 1 EFHC1 114327 ENSG00000096093 {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3), Autosomal dominant; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3), Autosomal dominant Efhc1 (MGI:1919127)
chr6 52497401 52577063 6p12.2 6p12.2 608485 TRAM2, KIAA0057 Translocation-associated membrane protein 2 TRAM2 9697 ENSG00000065308 Tram2 (MGI:1924817)
chr6 52671085 52686587 6p12.2 6p12.2 616870 TMEM14A Transmembrane protein 14A TMEM14A 28978 ENSG00000096092 Tmem14a (MGI:1922962)
chr6 52750086 52763562 6p12.2 6p12.2 138360 GSTA2, GST2 Glutathione S-transferase A2 GSTA2 2939 ENSG00000244067
chr6 52791379 52803966 6p12.2 6p12.2 138359 GSTA1 Glutathione S-transferase A1 GSTA1 2938 ENSG00000243955
chr6 52831741 52846094 6p12.2 6p12.2 607605 GSTA5 Glutathione S-transferase, alpha-5 GSTA5 221357 ENSG00000182793 Gm10639,Gsta1,Gsta2,Gm3776 (MGI:1095417,MGI:3704339,MGI:95863,MGI:3826440)
chr6 52896638 52909798 6p12.2 6p12.2 605449 GSTA3 Glutathione S-transferase, alpha-3 GSTA3 2940 ENSG00000174156 Gsta3 (MGI:95856)
chr6 52977947 52995379 6p12.2 6p12.2 605450 GSTA4 Glutathione S-transferase, alpha-4 GSTA4 2941 ENSG00000170899
chr6 52995619 52995950 6p12.1 6p12.2 606515 RN7SK, 7SK RNA, 7SK small nuclear RN7SK 125050
chr6 53001298 53061863 6p12.3 6p12.1 612325 ICK, MRK, KIAA0936, ECO, EJM10 Intestinal cell kinase ICK 22858 ENSG00000112144 Endocrine-cerebroosteodysplasia, 612651 (3), Autosomal recessive; {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3), Autosomal dominant Ick (MGI:1934157)
chr6 53057806 53100872 6p12.3-p11.2 6p12.1 609091 FBXO9, FBX9 F-box only protein 9 FBXO9 26268 ENSG00000112146 Fbxo9 (MGI:1918788)
chr6 53126960 53262802 6p12.1 6p12.1 603715 GCM1, GCMA Glial cells missing, Drosophila, homolog of, 1 GCM1 8521 ENSG00000137270 Gcm1 (MGI:108045)
chr6 53267397 53349178 6p12 6p12.1 611805 ELOVL5, HELO1, SCA38 Elongation of very long chain fatty acids-like 5 ELOVL5 60481 ENSG00000012660 Spinocerebellar ataxia 38, 615957 (3), Autosomal dominant Elovl5 (MGI:1916051)
chr6 53497340 53545128 6p12 6p12.1 606857 GCLC, GLCLC Glutamate-cysteine ligase, catalytic subunit GCLC 2729 ENSG00000001084 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3), Autosomal recessive; {Myocardial infarction, susceptibility to}, 608446 (3) Gclc (MGI:104990)
chr6 53647900 53665853 6p12 6p12.1 610749 KLHL31, KLHL Kelch-like 31 KLHL31 401265 ENSG00000124743 Klhl31 (MGI:3045305)
chr6 53794496 53924124 6p12.3-p12.2 6p12.1 608195 LRRC1, LANO Leucine-rich repeat-containing protein 1 LRRC1 55227 ENSG00000137269 Lrrc1 (MGI:2442313)
chr6 54018915 54266324 6p12.1 6p12.1 614106 MLIP, C6orf142 Muscular LMNA-interating protein MLIP 90523 ENSG00000146147 Mlip (MGI:1916892)
chr6 54307791 54390151 6p12-p11.2 6p12.1 606749 TINAG, TIN1, TIN2 Tubulointerstitial nephritis antigen TINAG 27283 ENSG00000137251 Tinag (MGI:1349477)
chr6 55106459 55284697 6p12.1 6p12.1 602393 HCRTR2, OX2R Hypocretin receptor 2 HCRTR2 3062 ENSG00000137252 Hcrtr2 (MGI:2680765)
chr6 55327468 55402492 6p12.1 6p12.1 617837 GFRAL, GRAL GDNF family receptor alpha-like protein GFRAL 389400 ENSG00000187871 Gfral (MGI:3607786)
chr6 55753652 55875589 6p12.1 6p12.1 112265 BMP5 Bone morphogenetic protein-5 BMP5 653 ENSG00000112175 Bmp5 (MGI:88181)
chr6 56056589 56394127 6p12.3-p11.2 6p12.1 610002 COL21A1 Collagen, type XXI, alpha-1 polypeptide COL21A1 81578 ENSG00000124749
chr6 56457986 56954670 6p12-p11 6p12.1 113810 DST, BPAG1, DMH, D6S1101, HSAN6, EBSB2 Dystonin (bullous pemphigoid antigen 1) DST 667 ENSG00000151914 ?mutation identified in 1 HSAN6 family Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3), Autosomal recessive; ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3), Autosomal recessive
chr6 57088969 57170304 6p12.1 6p12.1 615708 ZNF451, COASTER Zinc finger protein 451 ZNF451 26036 ENSG00000112200 Zfp451 (MGI:2137896)
chr6 57172305 57185214 6p11.2 6p12.1 603882 BAG2 BCL2-associated athanogene 2 BAG2 9532 ENSG00000112208 Bag2 (MGI:1891254)
chr6 57186991 57222313 6p11 6p12.1-p11.2 606144 RAB23 Ras-associated protein RAB23 RAB23 51715 ENSG00000112210 Carpenter syndrome, 201000 (3), Autosomal recessive Rab23 (MGI:99833)
chr6 57200000 59800000 6p11 608173 AITD1 Autoimmune thyroid disease, susceptibility to, 1 387578 {Autoimmune thyroid disease, susceptibility to, 1}, 608173 (2)
chr6 57314804 57646851 6p12-p11.1 6p11.2 176636 PRIM2A Primase polypeptide 2A, 58kD PRIM2 5558 ENSG00000146143 Prim2 (MGI:97758)
chr6 59800000 170805979 6q 193007 BPPV Vertigo, benign paroxysmal positional 619536 max lod at D6S1556 Vestibulopathy, familial, 193007 (2), Autosomal dominant
chr6 59800000 87300000 6q11-q14 613544 DEL6q11q14, C6DELq11q14 Chromosome 6q11-q14 deletion syndrome contiguous gene deletion syndrome Chromosome 6q11-q14 deletion syndrome, 613544 (4), Isolated cases
chr6 61542696 62286226 6q11.1 6q11.1 610487 KHDRBS2, SLM1 KH domain-containing, RNA-binding, signal transduction-associated protein 2 KHDRBS2 202559 ENSG00000112232 Khdrbs2 (MGI:2159649)
chr6 62700000 69200000 6q12 608905 ADHD3 Attention deficit-hyperactivity disorder, susceptibility to, 2 450089 {Attention deficit-hyperactivity disorder}, 143465 (2), Autosomal dominant
chr6 62700000 105000000 6q12-q16 605582 CMD1K Cardiomyopathy, dilated, 1K CMD1K 65014 Cardiomyopathy, dilated, 1K, 605582 (2)
chr6 62700000 92500000 6q12-q15 614342 MRT30 Mental retardation, autosomal recessive 30 100852401 between rs4612125 and rs285651 Mental retardation, autosomal recessive 30, 614342 (2), Autosomal recessive
chr6 63528020 63583587 6q12 6q12 601585 PTP4A1, HH72, PRL1 Protein tyrosine phosphatase, type 4A, 1 PTP4A1 7803 ENSG00000112245 Ptp4a1 (MGI:1277096)
chr6 63635801 63715521 6q12 6q12 607789 PHF3, KIAA0244 PHD finger protein 3 PHF3 23469 ENSG00000118482 Phf3 (MGI:2446126)
chr6 63719979 65707224 6q12 6q12 612424 EYS, RP25 Eyes shut, Drosophila, homolog of EYS 346007 ENSG00000188107 Retinitis pigmentosa 25, 602772 (3), Autosomal recessive
chr6 68635282 69389510 6q12 6q12-q13 602684 ADGRB3, BAI3 Adhesion G protein-coupled receptor B3 ADGRB3 577 ENSG00000135298 Adgrb3 (MGI:2441837)
chr6 69200000 98900000 6q13-q16.1 611572 OTSC7 Otosclerosis 7 OTSC7 399516 between D6S1036 and D6S300 Otosclerosis 7, 611572 (2), Autosomal dominant
chr6 69200000 164100000 6q13-q26 603175 SCZD5 Schizophrenia susceptibility locus, chromosome 6q-related max lod at D6S1626 and D6S292 {Schizophrenia}, 181500 (2), Autosomal dominant
chr6 69675748 69797156 6q13 6q13 612625 LMBRD1, LMBD1, NESI, MAHCF LMBR1 domain-containing protein 1 LMBRD1 55788 ENSG00000168216 Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3), Autosomal recessive Lmbrd1 (MGI:1915671)
chr6 69866555 70215062 6q12-q14 6q13 120165 COL19A1, D6S228E, COL9A1L Collagen XIX, alpha-1 polypeptide COL19A1 1310 ENSG00000082293 Col19a1 (MGI:1095415)
chr6 70216039 70303082 6q13 6q13 120210 COL9A1, EDM6, STL4 Collagen IX, alpha-1 polypeptide COL9A1 1297 ENSG00000112280 mutation identified in 1 EDM6 family ?Epiphyseal dysplasia, multiple, 6, 614135 (3), Autosomal dominant; Stickler syndrome, type IV, 614134 (3) Col9a1 (MGI:88465)
chr6 70667770 70862014 6q13 6q13 611372 SMAP1 Small ADP-ribosylation factor GTPase-activating protein 1 SMAP1 60682 ENSG00000112305 Smap1 (MGI:2138261)
chr6 70861365 70957084 6q13 6q13 607497 GLCATS, KIAA1963 UDP-glucuronyltransferase S B3GAT2 135152 ENSG00000112309 B3gat2 (MGI:2389490)
chr6 71403550 71403620 6q13 6q13 612329 MIR30A, MIRN30A Micro RNA 30A MIR30A 407029
chr6 71886702 72403142 6q12-q13 6q13 606629 RIMS1, RIM1, RIM, KIAA0340, CORD7 Regulating synaptic membrane exocytosis 1 RIMS1 22999 ENSG00000079841 Cone-rod dystrophy 7, 603649 (3) Rims1 (MGI:2152971)
chr6 72621842 73198850 6q14 6q13 607357 KCNQ5, MRD46 Potassium channel, voltage-gated, KQT-like subfamily, member 5 KCNQ5 56479 ENSG00000185760 Mental retardation, autosomal dominant 46, 617601 (3), Autosomal dominant Kcnq5 (MGI:1924937)
chr6 73241313 73310364 6q13 6q13 611688 KHDC1 KH homology domain-containing protein 1 KHDC1 80759 ENSG00000135314
chr6 73353061 73354275 6q13 6q13 611111 DPPA5, ESG1 Developmental pluripotency-associated gene 5 DPPA5 340168 ENSG00000203909 Dppa5a (MGI:101800)
chr6 73362676 73364174 6q13 6q13 611687 KHDC3L, C6orf221, ECAT1, HYDM2 KH domain containing 3-like, subcortical maternal complex member KHDC3L 154288 ENSG00000203908 Hydatidiform mole, recurrent, 2, 614293 (3), Autosomal recessive Khdc3 (MGI:1914241)
chr6 73368554 73369791 6q13 6q13 611689 OOEP, KHDC2 Oocyte-expressed protein, Dog, homolog of OOEP 441161 ENSG00000203907 Ooep (MGI:1915218)
chr6 73394561 73417565 6q12-q13 6q13 606286 DDX43, HAGE DEAD/H box 43 DDX43 55510 ENSG00000080007 Ddx43 (MGI:3642857)
chr6 73425132 73452319 6q13 6q13 613973 CGAS, MB21D1, C6orf150 Cyclic GMP-AMP synthase CGAS 115004 ENSG00000164430 Mb21d1 (MGI:2442261)
chr6 73461730 73501455 6q13 6q13 614667 MTO1, COXPD10 Mitochondrial translation optimization 1, S. cerevisiae, homolog of MTO1 25821 ENSG00000135297 Combined oxidative phosphorylation deficiency 10, 614702 (3), Autosomal recessive Mto1 (MGI:1915541)
chr6 73515749 73521031 6q14 6q13 130590 EEF1A1, EF1A Eukaryotic translation elongation factor-1, alpha-1 EEF1A1 1915 ENSG00000156508 Eef1a1 (MGI:1096881)
chr6 73593378 73654013 6q14-q15 6q13 604322 SLC17A5, SIASD, SLD Solute carrier family 17 (sodium phosphate), member 5 SLC17A5 26503 ENSG00000119899 Salla disease, 604369 (3), Autosomal recessive; Sialic acid storage disorder, infantile, 269920 (3), Autosomal recessive Slc17a5 (MGI:1924105)
chr6 73696084 73828316 6q13 6q13 608859 CD109 CD109 antigen CD109 135228 ENSG00000156535 Cd109 (MGI:2445221)
chr6 75084325 75206261 6q13-q14.1 6q13-q14 120320 COL12A1, UCMD2, BTHLM2, EDSMYP Collagen, type XII, alpha-1 COL12A1 1303 ENSG00000111799 mutation identified in 1 UCMD2 family Bethlem myopathy 2, 616471 (3), Autosomal dominant; ?Ullrich congenital muscular dystrophy 2, 616470 (3) Col12a1 (MGI:88448)
chr6 75200000 105000000 6q14-q16 608988 ATFB2 Atrial fibrillation, familial, 2 619478 max lod between D6S286 and D6S1021 Atrial fibrillation, familial, 2, 608988 (2)
chr6 75200000 100000000 6q14-q16.2 600790 PBCRA, CRAPB Progressive bifocal chorioretinal atrophy PBCRA1 7948 Chorioretinal atrophy, progressive bifocal, 600790 (2), Autosomal dominant
chr6 75200000 83200000 6q14.1 610685 SHFLD2 Split-hand/foot malformation with long bone deficiency 2 791123 between rs623155 and rs1547251 Split-hand/foot malformation with long bone deficiency 2, 610685 (2)
chr6 75237674 75244658 6q12 6q14.1 123996 COX7A2 Cytochrome c oxidase, subunit VIIa, polypeptide-2, liver COX7A2 1347 ENSG00000112695 previously thought to be on chr.4 Cox7a2 (MGI:1316715)
chr6 75252921 75284915 6q14.1 6q14.1 611028 TMEM30A, CDC50A Transmembrane protein 30A TMEM30A 55754 ENSG00000112697 Tmem30a (MGI:106402)
chr6 75291857 75493913 6q14.1 6q14.1 607307 FILIP, KIAA1275 Filamin A-interacting protein FILIP1 27145 ENSG00000118407 Filip1 (MGI:1917848)
chr6 75601508 75718284 6q13 6q14.1 605003 SENP6, SSP1, SUSP1 Sentrin-specific protease family, member 6 SENP6 26054 ENSG00000112701 Senp6 (MGI:1922075)
chr6 75749175 75919536 6q13 6q14.1 600970 MYO6, DFNA22, DFNB37 Myosin VI MYO6 4646 ENSG00000196586 Deafness, autosomal dominant 22, 606346 (3), Autosomal dominant; Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3), Autosomal dominant; Deafness, autosomal recessive 37, 607821 (3), Autosomal recessive Myo6 (MGI:104785)
chr6 75921113 76072677 6q13-q15 6q14.1 602870 IMPG1, IPM150, VMD4 Interphotoreceptor matrix proteoglycan-1 IMPG1 3617 ENSG00000112706 Macular dystrophy, vitelliform, 4, 616151 (3), Autosomal dominant Impg1 (MGI:1926876)
chr6 77460847 77464021 6q13 6q14.1 182131 HTR1B 5-hydroxytryptamine (serotonin) receptor-1B HTR1B 3351 ENSG00000135312 Htr1b (MGI:96274)
chr6 78867485 78979410 6q14.1 6q14.1 615375 IRAK1BP1, SIMPL Interleukin 1 receptor-associated kinase 1-binding protein 1 IRAK1BP1 134728 ENSG00000146243 Irak1bp1 (MGI:1929475)
chr6 78934418 79078297 6q14 6q14.1 612870 PHIP Pleckstrin homology domain-interacting protein PHIP 55023 ENSG00000146247 Phip (MGI:1932404)
chr6 79201244 79234737 6q14.1 6q14.1 604502 HMGN3, TRIP7 High-mobility group nucleosomal binding protein 3 (thyroid hormone receptor interactor 7) HMGN3 9324 ENSG00000118418
chr6 79484990 79537429 6q14.1 6q14.1 611408 LCA5, C6orf152 Lebercilin LCA5 167691 ENSG00000135338 Leber congenital amaurosis 5, 604537 (3) Lca5 (MGI:1923032)
chr6 79631104 79703669 6q14.1 6q14.1 615678 SH3BGRL2 SH3 domain-binding glutamic acid-rich protein-like protein 2 SH3BGRL2 83699 ENSG00000198478 Sh3bgrl2 (MGI:1915350)
chr6 79914811 79947597 6q14 6q14.1 605512 ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34 Elongation of very long chain fatty acids 4 ELOVL4 6785 ENSG00000118402 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3), Autosomal recessive; Spinocerebellar ataxia 34, 133190 (3), Autosomal dominant; Stargardt disease 3, 600110 (3), Autosomal dominant Elovl4 (MGI:1933331)
chr6 80004146 80042650 6q13-q21 6q14.1 604092 TTK, MPS1L1, PYT TTK protein kinase TTK 7272 ENSG00000112742 Ttk (MGI:1194921)
chr6 80106609 80469087 6q14 6q14.1 248611 BCKDHB, E1B Branched chain keto acid dehydrogenase E1, beta polypeptide BCKDHB 594 ENSG00000083123 Maple syrup urine disease, type Ib, 248600 (3), Autosomal recessive Bckdhb (MGI:88137)
chr6 82169986 82247753 6q13-q14 6q14.1 606457 IBTK Inhibitor of Bruton agammaglobulinemia tyrosine kinase IBTK 25998 ENSG00000005700 Ibtk (MGI:1918677)
chr6 82363205 82367416 6q14-q15 6q14.1 190920 TPBG Trophoblast glycoprotein TPBG 7162 ENSG00000146242 Tpbg (MGI:1341264)
chr6 82880833 83065840 6q14.1 6q14.1 612495 UBE2CBP, H10BH Ubiquitin-conjugating enzyme E2C-binding protein UBE3D 90025 ENSG00000118420 Ube2cbp (MGI:1917598)
chr6 83067665 83171350 6q14.1 6q14.1 616823 DOPEY1, DOP1, KIAA1117 DOPEY family member 1 DOPEY1 23033 ENSG00000083097 Dopey1 (MGI:1289294)
chr6 83150727 83193935 6q12 6q14.1 172100 PGM3, AGM1, IMD23 Phosphoglucomutase-3 (N-acetylglucosamine-phosphate mutase 1) PGM3 5238 ENSG00000013375 Immunodeficiency 23, 615816 (3), Autosomal recessive Pgm3 (MGI:97566)
chr6 83210388 83431218 6q12 6q14.2 154250 ME1 Malic enzyme, cytoplasmic ME1 4199 ENSG00000065833 Me1 (MGI:97043)
chr6 83552884 83709407 6q14.2 6q14.2 607923 SNAP91, AP180, KIAA0656 Synaptosomal-associated protein, 91kD SNAP91 9892 ENSG00000065609 Snap91 (MGI:109132)
chr6 83853265 83857514 6q14.2 6q14.2 609891 RIPPLY2, C6orf59, SCDO6 Ripply2, zebrafish, homolog of RIPPLY2 134701 ENSG00000203877 mutation identified in 1 SCDO6 family ?Spondylocostal dysostosis 6, 616566 (3), Autosomal recessive Ripply2 (MGI:2685968)
chr6 83859650 83960426 6q14-q15 6q14.2 608343 CYB5R4, NCB5OR Cytochrome b5 reductase 4 CYB5R4 51167 ENSG00000065615 Cyb5r4 (MGI:2386848)
chr6 84032620 84146277 6q14.2 6q14.2 615410 MRAP2, C6orf117, BMIQ18 Melanocortin 2 receptor accessory protein 2 MRAP2 112609 ENSG00000135324 mutation identified in 1 BMIQ18 individual {?Obesity, susceptibility to, BMIQ18}, 615457 (3), Autosomal dominant Mrap2 (MGI:3609239)
chr6 84124240 84227888 6q14.2-q14.3 6q14.2-q14.3 610201 CEP162, KIAA1009 Centrosomal protein, 162kD CEP162 22832 ENSG00000135315 Cep162 (MGI:1925343)
chr6 84666809 84764235 6q14.3 6q14.3 604613 TBX18, CAKUT2 T-box 18 TBX18 9096 ENSG00000112837 Congenital anomalies of kidney and urinary tract 2, 143400 (3), Autosomal dominant Tbx18 (MGI:1923615)
chr6 85449583 85495790 6q14-q21 6q14.3 129190 NT5E, NT5 5' nucleotidase, ecto (CD73) NT5E 4907 ENSG00000135318 Calcification of joints and arteries, 211800 (3), Autosomal recessive Nt5e (MGI:99782)
chr6 85505495 85594155 6q14.3 6q14.3 616105 SNX14, SCAR20 Sorting nexin 14 SNX14 57231 ENSG00000135317 Spinocerebellar ataxia, autosomal recessive 20, 616354 (3), Autosomal recessive Snx14 (MGI:2155664)
chr6 85607783 85643861 6q14.3 6q14.3 616686 SYNCRIP, NSAP1, GRYRBP, HNRNPQ Synaptotagmin-binding cytoplasmic RNA-interacting protein SYNCRIP 10492 ENSG00000135316 Syncrip (MGI:1891690)
chr6 85677006 85678732 6q15 6q14.3 613263 SNHG5, U50HG Small nucleolar RNA host gene 5 SNHG5 387066
chr6 85677293 85677367 6q15 6q14.3 613117 SNORD50A, RNU50 Small nucleolar RNA, C/D box, 50A SNORD50A 26799
chr6 85677588 85677658 6q15 6q14.3 613264 SNORD50B Small nucleolar RNA, C/D box SNORD50B 692088
chr6 86936918 87020067 6q14-q15 6q14.3 182132 HTR1E 5-hydroxytryptamine (serotonin) receptor-1E HTR1E 3354 ENSG00000168830
chr6 87085497 87095146 6q12-q21 6q14.3 118850 CGA Chorionic gonadotropin, alpha polypeptide CGA 1081 ENSG00000135346 shared with LH, FSH, TSH Cga (MGI:88390)
chr6 87155548 87265942 6q14.3 6q14.3 616213 ZNF292, ZFP292, KIAA0530 Zinc finger protein 292 ZNF292 23036 ENSG00000188994 Zfp292 (MGI:1353423)
chr6 87282977 87329277 6q15 6q14-q15 611921 GJB7, CX25 Gap junction protein, beta-7 GJB7 375519 ENSG00000164411
chr6 87472924 87512338 6q15 6q15 605634 SLC35A1, CST, CDG2F Solute carrier family 35 (CMP-sialic acid transporter), member 1 SLC35A1 10559 ENSG00000164414 Congenital disorder of glycosylation, type IIf, 603585 (3), Autosomal recessive Slc35a1 (MGI:1345622)
chr6 87513934 87590031 6q16.1 6q15 611524 RARS2, RARSL, PCH6 Arginyl-tRNA synthetase 2 RARS2 57038 ENSG00000146282 Pontocerebellar hypoplasia, type 6, 611523 (3), Autosomal recessive Rars2 (MGI:1923596)
chr6 87590066 87677823 6q15 6q15 604972 ORC3, ORC3L, LAT Origin recognition complex, subunit 3, S. cerevisiae, homolog of ORC3 23595 ENSG00000135336 Orc3 (MGI:1354944)
chr6 87674859 87702266 6q15 6q15 615165 AKIRIN2 Akirin 2 AKIRIN2 55122 ENSG00000135334 Akirin2 (MGI:1889364)
chr6 88046906 88066831 6q15-q16.2 6q15 612739 SPACA1, SAMP32 Sperm acrosome-associated 1 SPACA1 81833 ENSG00000118434 Spaca1 (MGI:1914902)
chr6 88139863 88172848 6q14-q15 6q15 114610 CNR1 Cannabinoid receptor-1, brain CNR1 1268 ENSG00000118432 Cnr1 (MGI:104615)
chr6 88609896 88963628 6q16 6q15 603512 RNGTT, HCE1, CAP1A RNA guanylyltransferase and 5'-phosphatase RNGTT 8732 ENSG00000111880 Rngtt (MGI:1329041)
chr6 89080709 89085159 6q15 6q15 606714 PNRC1, PROL2 Proline-rich nuclear receptor coactivator 1 PNRC1 10957 ENSG00000146278 Pnrc1 (MGI:1917838)
chr6 89094817 89165568 6q15 6q15 615913 PM20D2, ACY1L2 Peptidase M20 domain-containing 2 PM20D2 135293 ENSG00000146281 Pm20d2 (MGI:2685270)
chr6 89177503 89231287 6q14-q21 6q15 137161 GABRR1 Gamma-aminobutyric acid (GABA) A receptor, rho-1 GABRR1 2569 ENSG00000146276 Gabrr1 (MGI:95625)
chr6 89254463 89315298 6q14-q21 6q15 137162 GABRR2 Gamma-aminobutyric acid (GABA) A receptor, rho-2 GABRR2 2570 ENSG00000111886 Gabrr2 (MGI:95626)
chr6 89326624 89353154 6q15 6q15 616175 UBE2J1, UBC6E Ubiquitin-conjugating enzyme E2J 1 UBE2J1 51465 ENSG00000198833 Ube2j1 (MGI:1926245)
chr6 89363508 89412275 6q15-q16 6q15 608268 RRAGD, RAGD RAS-related GTP-binding protein D RRAGD 58528 ENSG00000025039 Rragd (MGI:1098604)
chr6 89433177 89633833 6q14-q16 6q15 610583 ANKRD6, KIAA0957 Ankyrin repeat domain-containing protein 6 ANKRD6 22881 ENSG00000135299 Ankrd6 (MGI:2154278)
chr6 89829899 89874435 6q15 6q15 606880 CASP8AP2, FLASH Caspase 8-associated protein 2 CASP8AP2 9994 ENSG00000118412 Casp8ap2 (MGI:1349399)
chr6 89894468 89896099 6q15 6q15 611924 GJA10, CX62 Gap junction protein, alpha-10 GJA10 84694 ENSG00000135355 Gja10 (MGI:1339969)
chr6 89926527 90296907 6q15 6q15 605394 BACH2 BTB and CNC homology 2 BACH2 60468 ENSG00000112182 Bach2 (MGI:894679)
chr6 90513572 90587300 6q14-q21 6q15 602614 MAP3K7, TAK1, CSCF, FMD2 Mitogen-activated protein kinase kinase kinase 7 MAP3K7 6885 ENSG00000135341 Cardiospondylocarpofacial syndrome, 157800 (3), Autosomal dominant; Frontometaphyseal dysplasia 2, 617137 (3), Autosomal dominant
chr6 93240019 93419583 6q16.1 6q16.1 602190 EPHA7, HEK11 Ephrin receptor EphA7 EPHA7 2045 ENSG00000135333 Epha7 (MGI:95276)
chr6 95577496 95609451 6q16 6q16.1 612327 MANEA, ENDO Mannosidase, endo-alpha MANEA 79694 ENSG00000172469 Manea (MGI:2444484)
chr6 96015968 96215611 6q16 6q16.1 606865 FUT9 Fucosyltransferase 9 FUT9 10690 ENSG00000172461 Fut9 (MGI:1330859)
chr6 96521825 96555275 6q16.1 6q16.1 613372 UFL1, KIAA0776, NLBP UFM1-specific ligase 1 UFL1 23376 ENSG00000014123 Ufl1 (MGI:1914740)
chr6 96562524 96618625 6q16.1-q16.3 6q16.1 605126 FHL5, ACT Four-and-a-half LIM domains 5 FHL5 9457 ENSG00000112214 Fhl5 (MGI:1913192)
chr6 96794121 96837476 6q16.1-q16.3 6q16.1 606915 GPR63 G protein-coupled receptor 63 GPR63 81491 ENSG00000112218 Gpr63 (MGI:2135884)
chr6 96889310 96897890 6q16.1 6q16.1 611776 NDUFAF4, HRPAP20, C6orf66 NADH dehydrogenase 1 alpha subcomplex, assembly factor 4 NDUFAF4 29078 ENSG00000123545 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufaf4 (MGI:1915743)
chr6 97142160 97283436 6q16.1 6q16.1 615614 MMS22L, C6orf167 MMS22-like protein MMS22L 253714 ENSG00000146263 Mms22l (MGI:2684980)
chr6 98830140 98831699 6q16.1 6q16.1 616328 PNKY Long intergenic noncoding RNA Pinky 105447646
chr6 98834703 98838789 6q16 6q16.1 600494 POU3F2, OCT7 POU domain, class 3, transcription factor 2 POU3F2 5454 ENSG00000184486 Pou3f2 (MGI:101895)
chr6 98868534 98948005 6q16.1-q16.3 6q16.1-q16.2 605654 FBXL4, FBL4, MTDPS13 F-box and leucine-rich repeat protein 4 FBXL4 26235 ENSG00000112234 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3), Autosomal recessive Fbxl4 (MGI:2140367)
chr6 98900000 100000000 6q16.2 616842 DHS6S1, MCDR1 DNase1 hypersensitivity, chromosome 6, site 1 107305681 upstream of PRDM13 and CCNC Macular dystrophy, North Carolina type, 136550 (3), Autosomal dominant
chr6 98900000 117900000 6q16.2-q22.1 611944 LMPH1B Lymphedema, hereditary, IB 100188865 max lod at D6S1671 Lymphedema, hereditary, IB, 611944 (2), Autosomal dominant
chr6 99398050 99426305 6q16.2 6q16.2 616653 PNISR, SRRP130, SFRS18 PNN-interacting serine/arginine-rich protein PNISR 25957 ENSG00000132424 Pnisr (MGI:1913875)
chr6 99542386 99568813 6q21 6q16.2 123838 CCNC Cyclin C CCNC 892 ENSG00000112237 Ccnc (MGI:1858199)
chr6 99606773 99615577 6q16.2 6q16.2 616741 PRDM13 PR domain-containing protein 13 PRDM13 59336 ENSG00000112238 Prdm13 (MGI:2448528)
chr6 99919909 99994237 6q16.2-q21 6q16.2 606111 MCHR2, MCH2R, SLT, MCH2 Melanin-concentrating hormone receptor 2 MCHR2 84539 ENSG00000152034
chr6 100000000 125800000 6q16.3-q22.31 613828 GEFSP8 Generalized epilepsy with febrile seizures plus, type 8 100653381 between D6S962 and D6S287 Epilepsy, generalized, with febrile seizures plus, type 8, 613828 (2)
chr6 100385008 100464928 6q16.3-q21 6q16.3 603128 SIM1 Single-minded, Drosophila, homolog of, 1 SIM1 6492 ENSG00000112246 Obesity, severe, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Sim1 (MGI:98306)
chr6 100508193 100884454 6q16.3 6q16.3 614217 ASCC3, p200 Activating signal cointegrator 1 complex, subunit 3 ASCC3 10973 ENSG00000112249 Ascc3 (MGI:1925237)
chr6 101393707 102070082 6q21 6q16.3 138244 GRIK2, GLUR6, MRT6 Glutamate receptor, ionotropic, kainate 2 GRIK2 2898 ENSG00000164418 Mental retardation, autosomal recessive, 6, 611092 (3), Autosomal recessive Grik2 (MGI:95815)
chr6 104682669 104859918 6q21 6q16.3 610876 HACE1, KIAA1320, SPPRS HECT domain- and ankyrin repeat-containing E3 ubiquitin protein ligase 1 HACE1 57531 ENSG00000085382 Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive Hace1 (MGI:2446110)
chr6 104936998 105083331 6q21 6q16-q21 611044 LIN28B Lin28, C. elegans, homolog of, B LIN28B 389421 ENSG00000187772 Lin28b (MGI:3584032)
chr6 105000000 114200000 6q21 109780 BKMA1 Banded krait minor satellite DNA-1 7951 related to heterogametic sex
chr6 105000000 114200000 6q21 606325 HTX3 Heterotaxy, visceral, 3, autosomal 116629 ?Heterotaxy, visceral, 3, autosomal, 606325 (2)
chr6 105000000 114200000 6q21 601666 IDDM15 Insulin-dependent diabetes mellitus-15 IDDM15 3414 {Diabetes mellitus, insulin-dependent, 15}, 601666 (2)
chr6 105000000 114200000 6q21 606460 LGV2 Longevity 2 100329168 associated with rs2802292 [Longevity 2], 606460 (2)
chr6 105000000 114200000 6q21 601349 MCOPS8, MMEP Microphthalmia, syndromic 8 translocation with 13q12 Microphthalmia, syndromic 8, 601349 (2), ?Autosomal dominant
chr6 105000000 114200000 6q21 612882 MENAQ2 Menarche, age at, QTL2 100302562 associated with rs7759938 {Menarche, age at, QTL2}, 612882 (2)
chr6 105000000 130000000 6q21-q22 608852 PLF Pulmonary function 450095 close to D6S281 {Pulmonary function}, 608852 (2)
chr6 105096821 105137173 6q21 6q21 604577 BVES, HBVES, POPDC1, LGMD2X Blood vessel epicardial substance BVES 11149 ENSG00000112276 mutation identified in 1 LGMD2X family ?Muscular dystrophy, limb-girdle, type 2X, 616812 (3), Autosomal recessive Bves (MGI:1346013)
chr6 105157899 105179982 6q21 6q21 605824 POPDC3, POP3 Popeye domain-containing protein 3 POPDC3 64208 ENSG00000132429 Popdc3 (MGI:1930153)
chr6 105277566 105403123 6q22 6q21 600400 PREP Prolyl endopeptidase PREP 5550 ENSG00000085377 Prep (MGI:1270863)
chr6 106046728 106109938 6q21-q22.1 6q21 603423 PRDM1, BLIMP1 PR domain-containing protein 1 (B-lymphocyte-induced maturation protein 1) PRDM1 639 ENSG00000057657 Prdm1 (MGI:99655)
chr6 106184475 106325819 6q21 6q21 604261 ATG5, APG5, APG5L, ASP, SCAR25 Autophagy 5, S. cerevisiae, homolog of ATG5 9474 ENSG00000057663 mutation identified in one SCAR25 family ?Spinocerebellar ataxia, autosomal recessive 25, 617584 (3), Autosomal recessive Atg5 (MGI:1277186)
chr6 106360807 106570448 6q21 6q21 601797 AIM1, ST4 Absent in melanoma 1 CRYBG1 202 ENSG00000112297 Crybg1 (MGI:109544)
chr6 106559236 106630920 6q21 6q21 610502 RTN4IP1, NIMP, OPA10 Reticulon 4-interacting protein 1 RTN4IP1 84816 ENSG00000130347 Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive Rtn4ip1 (MGI:2178759)
chr6 106629565 106668416 6q21 6q21 617209 QRSL1, GATA Glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like protein 1 QRSL1 55278 ENSG00000130348 Qrsl1 (MGI:1923813)
chr6 106969830 106976854 6q21 6q21 600074 CD24 CD24 antigen CD24 100133941 ENSG00000272398 pseudogenes at 15q21-q22; Yq11
chr6 107065180 107115185 6q21 6q21 616374 BEND3, KIAA1553 BEN domain-containing protein 3 BEND3 57673 ENSG00000178409 Bend3 (MGI:2677212)
chr6 107152556 107459680 6q21 6q21 610564 PDSS2, DLP1, C6orf210, COQ10D3 Prenyl diphosphate synthase, subunit 2 PDSS2 57107 ENSG00000164494 Coenzyme Q10 deficiency, primary, 3, 614652 (3), Autosomal recessive Pdss2 (MGI:1918615)
chr6 107490103 107661308 6q21 6q21 613667 SOBP, JXC1, MRAMS Sine oculis-binding protein, Drosophila, homolog of SOBP 55084 ENSG00000112320 Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3), Autosomal recessive Sobp (MGI:1924427)
chr6 107867755 107958277 6q21 6q21 608648 SEC63, PCLD2 Sec63, S. cerevisiae, homolog of SEC63 11231 ENSG00000025796 Polycystic liver disease 2, 617004 (3), Autosomal dominant Sec63 (MGI:2155302)
chr6 108041408 108074736 6q21 6q21 607649 OSTM1, GL, OPTB5 Osteopetrosis associated transmembrane protein 1 (grey-lethal, mouse, homolog of) OSTM1 28962 ENSG00000081087 Osteopetrosis, autosomal recessive 5, 259720 (3), Autosomal recessive Ostm1 (MGI:2655574)
chr6 108166057 108188808 6q21 6q21 603849 NR2E1, TLX Nuclear receptor subfamily 2, group E, member 1 (tailless, Drosophila, homolog of) NR2E1 7101 ENSG00000112333 Nr2e1 (MGI:1100526)
chr6 108211216 108261259 6q21 6q21 605930 SNX3 Sorting nexin 3 SNX3 8724 ENSG00000112335 t(6;13)(q21;q12) Snx3 (MGI:1860188)
chr6 108294873 108525783 6q21 6q21 617469 AFG1L, AFG1, LACE1 AFG1-like ATPase AFG1L 246269 ENSG00000135537 Afg1l (MGI:2148801)
chr6 108559822 108684768 6q21 6q21 602681 FOXO3A, FOXO3, FKHRL1 Forkhead box O3A FOXO3 2309 ENSG00000118689 Foxo3 (MGI:1890081)
chr6 108986436 109094504 6q21 6q21 606103 SESN1, SEST1, PA26 Sestrin 1 SESN1 27244 ENSG00000080546 Sesn1 (MGI:2155278)
chr6 109366513 109382811 6q21 6q21 603356 CD164, DFNA66 CD164 antigen CD164 8763 ENSG00000135535 mutation identified in 1 DFNA66 family ?Deafness, autosomal dominant 66, 616969 (3), Autosomal dominant Cd164 (MGI:1859568)
chr6 109444061 109465967 6q16.1 6q21 607129 MICAL1, NICAL, MICAL Microtubule-associated monooxygenase, calponin and LIM domains-containing 1 MICAL1 64780 ENSG00000135596 Mical1 (MGI:2385847)
chr6 109462515 109483236 6q21 6q21 614064 ZBTB24, PATZ2, ZNF450, KIAA0441, ICF2 Zinc finger- and BTB domain-containing protein 24 ZBTB24 9841 ENSG00000112365 Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3), Autosomal recessive Zbtb24 (MGI:3039618)
chr6 109492854 109691211 6q21 6q21 615358 AK9 Adenylate kinase 9 AK9 221264 ENSG00000155085 Ak9 (MGI:2685080)
chr6 109691220 109825430 6q21 6q21 609390 FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP Fig4, S. cerevisiae, homolog of FIG4 9896 ENSG00000112367 mutation identified in 1 BTOP family Amyotrophic lateral sclerosis 11, 612577 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 4J, 611228 (3), Autosomal recessive; ?Polymicrogyria, bilateral temporooccipital, 612691 (3), Autosomal recessive; Yunis-Varon syndrome, 216340 (3), Autosomal recessive Fig4 (MGI:2143585)
chr6 109978255 109980719 6q21-q22.1 6q21 600553 GPR6 G protein-coupled receptor-6 GPR6 2830 ENSG00000146360 Gpr6 (MGI:2155249)
chr6 110099818 110180003 6q21-q22 6q21 605035 WASF1, WAVE, WAVE1, SCAR1 WAS protein family member 1 WASF1 8936 ENSG00000112290 Wasf1 (MGI:1890563)
chr6 110180420 110232219 6q22.1 6q21 605585 CDC40, PRP17 Cell division cycle 40, S. cerevisiae, homolog of CDC40 51362 ENSG00000168438 Cdc40 (MGI:1918963)
chr6 110392179 110415549 6q21 6q21 124450 DDO, DASOX D-aspartate oxidase DDO 8528 ENSG00000203797 Ddo (MGI:1925528)
chr6 110424586 110476673 6q21 6q21 608276 SLC22A16, FLIPT2, CT2 Solute carrier family 22 (organic cation transporter), member 16 SLC22A16 85413 ENSG00000004809 Slc22a16 (MGI:1918090)
chr6 110609977 110816530 6q21 6q21 614720 CDK19, KIAA1028 Cyclin-dependent kinase 19 CDK19 23097 ENSG00000155111 Cdk19 (MGI:1925584)
chr6 110814620 110895712 6q21-q22 6q21 180980 AMD1 S-adenosylmethionine decarboxylase-1 AMD1 262 ENSG00000123505 pseudogene AMD2 on Xq28 Amd2,Amd1 (MGI:88004,MGI:1333111)
chr6 110958559 110967887 6q21 6q21 611784 GTF3C6, C6orf51 General transcription factor 3C, polypeptide 6 GTF3C6 112495 ENSG00000155115 Gtf3c6 (MGI:1914621)
chr6 111087502 111227124 6q21-q22 6q21 607550 SLC16A10, TAT1 Solute carrier family 16 (monocarboxylic acid transporter), member 10 SLC16A10 117247 ENSG00000112394 Slc16a10 (MGI:1919722)
chr6 111259278 111280004 6q21 6q21 617331 MFSD4B, NAGLT1, Kiaa1919 Major facilitator superfamily domain-containing protein 4B MFSD4B 91749 ENSG00000173214 Mfsd4b1 (MGI:2143575)
chr6 111299030 111483714 6q21 6q21 602776 REV3L, POLZ, REV3 Rev-3, yeast, homolog-like (polymerase, DNA, zeta) REV3L 5980 ENSG00000009413 Rev3l (MGI:1337131)
chr6 111555377 111606299 6q21 6q21 607043 TRAF3IP2, C6orf5, ACT1, CIKS, C6orf4, C6orf6, PSORS13, CANDF8 TRAF3-interacting protein 2 TRAF3IP2 10758 ENSG00000056972 mutation identified in 1 family with CANDF8 ?Candidiasis, familial, 8, 615527 (3), Autosomal recessive; {Psoriasis susceptibility 13}, 614070 (3) Traf3ip2 (MGI:2143599)
chr6 111660331 111873451 6q21 6q21 137025 FYN FYN oncogene related to SRC, FGR, YES FYN 2534 ENSG00000010810 proximal 6q21 Fyn (MGI:95602)
chr6 112052812 112069685 6q22-q23 6q21 603400 WISP3, PPAC, PPD Wnt-1 inducible signaling pathway protein 3 WISP3 8838 ENSG00000112761 Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3), Autosomal recessive; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3), Autosomal recessive Wisp3 (MGI:2685581)
chr6 112070656 112087547 6q21 6q21 607345 TUBE1, TUBE Tubulin, epsilon-1 TUBE1 51175 ENSG00000074935 Tube1 (MGI:1919174)
chr6 112107930 112254721 6q21 6q21 600133 LAMA4, LAMA3, CMD1JJ Laminin, alpha-4 LAMA4 3910 ENSG00000112769 Cardiomyopathy, dilated, 1JJ, 615235 (3), Autosomal dominant Lama4 (MGI:109321)
chr6 113857334 113863474 6q22.2 6q21 177061 MRACKS, MACS, PKCSL Myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L) MARCKS 4082 ENSG00000277443 monomorphic
chr6 113936155 113971194 6q21 6q21 605164 HDAC2 Histone deacetylase 2 HDAC2 3066 ENSG00000196591 Hdac2 (MGI:1097691)
chr6 114055585 114342394 6q22.31 6q21-q22 609407 HS3ST5, 3OST5 Heparan sulfate 3-O-sulfotransferase 5 HS3ST5 222537 ENSG00000249853 Hs3st5 (MGI:2441996)
chr6 114200000 148500000 6q22-q24 609255 FEB5 Febrile seizures, familial, 5 FEB5 619398 between D6S1572 and D6S472 Febrile seizures, familial, 5, 609255 (2), Autosomal dominant
chr6 114200000 148500000 6q22-q24 606035 FIQTL1 Fasting insulin level quantitative trait locus 1 619503 max lod at D6S1569 [Fasting insulin level quantitative trait locus 1], 606035 (2)
chr6 114200000 138300000 6q22-q23 161950 IGAN1 IgA nephropathy, susceptibility to, 1 60498 {IgA nephropathy, susceptibility to, 1}, 161950 (2), ?Autosomal dominant
chr6 114200000 138300000 6q22-q23 604201 SM2 Hepatic fibrosis susceptibility due to Schistosoma mansoni infection 53366 ?polymorphism of INFGR1 {Hepatic fibrosis susceptibility due to Schistosoma mansoni infection}, 604201 (2)
chr6 115941030 116100738 6q21-q22.3 6q22.1 606573 FRK, RAK, GTK FYN-related kinase FRK 2444 ENSG00000111816 Frk (MGI:103265)
chr6 116118908 116219936 6q21-q22.3 6q22.1 120110 COL10A1 Collagen X, alpha-1 polypeptide COL10A1 1300 ENSG00000123500 Metaphyseal chondrodysplasia, Schmid type, 156500 (3), Autosomal dominant Col10a1 (MGI:88445)
chr6 116254151 116441260 6q22 6q22.1 605942 DSE, SART2, EDSMC2 Dermatan sulfate epimerase DSE 29940 ENSG00000111817 Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3), Autosomal recessive Dse (MGI:2443455)
chr6 116274858 116280116 6q22-q23 6q22.1 604714 TSPYL1, TSPYL, SIDDT Y-encoded testis-specific protein-like TSPYL1 7259 ENSG00000189241 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3), Autosomal recessive Tspyl1 (MGI:1298395)
chr6 116461369 116463781 6q22.1 6q22.1 617305 FAM26F, INAM Family with sequence similarity 26, member F CALHM6 441168 ENSG00000188820 Fam26f (MGI:2443082)
chr6 116496482 116545609 6q22.1 6q22.1 614137 BET3L, TRAPPC3L Bet3, S. cerevisiae, homolog-like TRAPPC3L 100128327 ENSG00000173626 Trappc3l (MGI:3642034)
chr6 116598183 116633050 6q22.1 6q22.1 612647 RSPH4A, CILD11 Radial spoke head 4, Chlamydomonas, homolog of, A RSPH4A 345895 ENSG00000111834 Ciliary dyskinesia, primary, 11, 612649 (3) Rsph4a (MGI:3027894)
chr6 116677642 116741866 6q22.1 6q22.1 604545 KPNA5 Karyopherin alpha-5 KPNA5 3841 ENSG00000196911
chr6 116877212 116932162 6q22.2 6q22.1 612659 RFX6, RFXDC1, MTCHRS Regulatory factor X, 6 RFX6 222546 ENSG00000185002 Mitchell-Riley syndrome, 615710 (3), Autosomal recessive Rfx6 (MGI:2445208)
chr6 117265557 117273564 6q21 6q22.1 609979 VGLL2, VGL2, VITO1 Vestigial-like 2 VGLL2 245806 ENSG00000170162 Vgll2 (MGI:2447460)
chr6 117287917 117426064 6q22 6q22.1 165020 ROS1, MCF3 Avian UR2 sarcoma virus oncogene (v-ros) homolog 1 ROS1 6098 ENSG00000047936 Ros1 (MGI:97999)
chr6 117560268 117602541 6q21 6q22.1 606845 GOPC, PIST, FIG, CAL Golgi-associated PDZ and coiled-coil domains-containing protein GOPC 57120 ENSG00000047932 Gopc (MGI:2149946)
chr6 117675459 117710726 6q22.31 6q22.1 610463 NUS1, NGBR, C6orf68, CDG1AA, MRD55 Nuclear undecaprenyl pyrophosphate synthase 1, S. cerevisiae, homolog of NUS1 116150 ENSG00000153989 mutation identified in 1 CDG1AA family ?Congenital disorder of glycosylation, type 1aa, 617082 (3), Autosomal recessive; Mental retardation, autosomal dominant 55, with seizures, 617831 (3), Autosomal dominant Nus1 (MGI:1196365)
chr6 118100000 130900000 6q22.3-q23.1 142470 HBFQTL2, FCP Fetal hemoglobin quantitative trait locus 2 7954 Fetal hemoglobin quantitative trait locus 2, 142470 (2), Autosomal dominant
chr6 118548262 118561714 6q22.1 6q22.31 172405 PLN, PLB, CMD1P, CMH18 Phospholamban PLN 5350 ENSG00000198523 Cardiomyopathy, dilated, 1P, 609909 (3); Cardiomyopathy, hypertrophic, 18, 613874 (3), Autosomal dominant
chr6 118813448 118935161 6q22.1-q22.33 6q22.31 610098 MCM9, MCMDC1, ODG4 Minichromosome maintenance complex component 9 MCM9 254394 ENSG00000111877 Ovarian dysgenesis 4, 616185 (3), Autosomal recessive Mcm9 (MGI:1918817)
chr6 118894076 118909170 6q22.31 6q22.31 609189 ASF1A, CIA Anti-silencing function 1, S. cerevisiae, homolog of, A ASF1A 25842 ENSG00000111875 Asf1a (MGI:1913653)
chr6 119177200 119350618 6q22 6q22.31 604344 MAN1A1 Mannosidase, alpha, class 1A, member 1 MAN1A1 4121 ENSG00000111885 Man1a (MGI:104677)
chr6 121079493 121335383 6q22.31 6q22.31 615867 TBC1D32, BROMI TBC1 domain family, member 32 TBC1D32 221322 ENSG00000146350 Tbc1d32 (MGI:2442827)
chr6 121435576 121449743 5q22.31 6q22.31 121014 GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP3 Gap junction protein, alpha-1, 43kD (connexin 43) GJA1 2697 ENSG00000152661 pseudogene on chr.5 Atrioventricular septal defect 3, 600309 (3), Autosomal dominant; Craniometaphyseal dysplasia, autosomal recessive, 218400 (3), Autosomal recessive; Erythrokeratodermia variabilis et progressiva 3, 617525 (3), Autosomal dominant; Hypoplastic left heart syndrome 1, 241550 (3), Autosomal recessive; Oculodentodigital dysplasia, 164200 (3), Autosomal dominant; Oculodentodigital dysplasia, autosomal recessive, 257850 (3), Autosomal recessive; Palmoplantar keratoderma with congenital alopecia, 104100 (3), Autosomal dominant; Syndactyly, type III, 186100 (3), Autosomal dominant Gja1 (MGI:95713)
chr6 122399550 122433118 6q22.3 6q22.31 140581 HSF2 Heat-shock transcription factor 2 HSF2 3298 ENSG00000025156 Hsf2 (MGI:96239)
chr6 122443347 122471880 6q22.31 6q22.31 614548 SERINC1, TMS2, KIAA1253 Serine incorporator 1 SERINC1 57515 ENSG00000111897 Serinc1 (MGI:1926228)
chr6 122471916 122726372 6q22.31 6q22.31 606914 PKIB Protein kinase, cAMP-dependent catalytic, inhibitor beta PKIB 5570 ENSG00000135549 Pkib (MGI:101937)
chr6 122749200 122784076 6q22-q23 6q22.31 602965 FABP7, FABPB, BLBP Fatty acid-binding protein 7 FABP7 2173 ENSG00000164434 Fabp7 (MGI:101916)
chr6 122788455 122809719 6q22.31 6q22.31 610728 SMPDL3A, ASML3A Sphingomyelin phosphodiesterase, acid-like, 3A SMPDL3A 10924 ENSG00000172594 Smpdl3a (MGI:1931437)
chr6 122995970 123072919 6q22.31 6q22.31 616945 CLVS2 Clavesin 2 CLVS2 134829 ENSG00000146352 Clvs2 (MGI:2443223)
chr6 123216338 123637092 6q22-q23 6q22.31 603283 TRDN, TDN, CPVT5 Triadin TRDN 10345 ENSG00000186439 Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3), Autosomal recessive Trdn (MGI:1924007)
chr6 123803841 124825651 6q21 6q22.31 609758 NKAIN2, TCBA Na+/K+ transporting ATPase interacting 2 NKAIN2 154215 ENSG00000188580 fused with SUSP1 in T-cell lymphoma/leukemia Nkain2 (MGI:1923447)
chr6 124908242 124963026 6q23 6q22.31 602532 STL Six-twelve leukemia gene RNF217-AS1 7955
chr6 125153728 125264406 6q22.31 6q22.31 604069 TPD52L1, D53 Tumor protein D52-like 1 TPD52L1 7164 ENSG00000111907 Tpd52l1 (MGI:1298386)
chr6 125747638 125762242 6q21 6q22.31 604674 HEY2, HERP1, GRL Hairy/enhancer of split-related with YRPW motif 2 HEY2 23493 ENSG00000135547 Hey2 (MGI:1341884)
chr6 125780942 125932029 6q22.33 6q22.31-q22.32 609752 NCOA7, ERAP140 Nuclear receptor coactivator 7 NCOA7 135112 ENSG00000111912 Ncoa7 (MGI:2444847)
chr6 125956714 125980243 6q22.33 6q22.32 609998 HINT3 Histidine triad nucleotide-binding protein 3 HINT3 135114 ENSG00000111911 Hint3 (MGI:1914097)
chr6 126339695 126483319 6q22.32 6q22.32 611264 CEMPW, C6orf173, CUG2 Centromeric protein W CENPW 387103 ENSG00000203760 Cenpw (MGI:1913561)
chr6 127118670 127199480 6q22.2 6q22.33 610574 RSPO3, PWTSR, CRISTIN1 R-spondin family member 3 RSPO3 84870 ENSG00000146374 Rspo3 (MGI:1920030)
chr6 127263414 127289892 6q22.1-q22.33 6q22.33 612137 RNF146 Ring finger protein 146 RNF146 81847 ENSG00000118518 Rnf146 (MGI:1915281)
chr6 127288711 127344178 6q22.33 6q22.33 612136 ECHDC1 Enoyl coenzyme A hydratase domain-containing protein 1 ECHDC1 55862 ENSG00000093144 Echdc1 (MGI:1277169)
chr6 127708193 127918630 6q22.33 6q22.33 613607 THEMIS, GASP, SPOT, C6orf190 Thymocyte-expressed molecule involved in selection THEMIS 387357 ENSG00000172673 Themis (MGI:2443552)
chr6 127968778 128520673 6q22.2-q22.3 6q22.33 602545 PTPRK Protein-tyrosine phosphatase, receptor type, kappa PTPRK 5796 ENSG00000152894 Ptprk (MGI:103310)
chr6 128883140 129516565 6q22-q23 6q22.33 156225 LAMA2, LAMM Laminin, alpha-2 (merosin) LAMA2 3908 ENSG00000196569 Muscular dystrophy, congenital merosin-deficient, 607855 (3), Autosomal recessive; Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3), Autosomal recessive Lama2 (MGI:99912)
chr6 129576144 129710224 6q22-q24 6q22.33 613351 ARHGAP18 RHO GTPase-activating protein 18 ARHGAP18 93663 ENSG00000146376 Arhgap18 (MGI:1921160)
chr6 130000000 160600000 6q23-q25 607446 BMIQ3 Body mass index quantitative trait locus 3 BMIQ3 337895 max lod at D6S305 [Body mass index QTL3], 607446 (2)
chr6 130000000 138300000 6q23 602067 CMD1F, CDCD3, LGMD1D Cardiomyopathy, dilated-1F, autosomal dominant Cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, 602067 (2)
chr6 130000000 138300000 6q23 609319 HCHGQ1 Hematocrit/hemoglobin quantitative trait locus 1 100381204 [Hematocrit/hemoglobin quantitative trait locus 1], 609319 (2)
chr6 130000000 160600000 6q23-q25 608935 LNCR1 Lung cancer 1 450093 max hlod at D6S2436 {Lung cancer susceptibility}, 608935 (2)
chr6 130000000 148500000 6q23-q24 611536 MAFD6, BPAD Major affective disorder 6 100188844 {Major affective disorder 6}, 611536 (2)
chr6 130000000 148500000 6q23-q24 602154 NTT Noncoding transcript in T cells 7956
chr6 130000000 138300000 6q23 180300 RA Rheumatoid arthritis, susceptibility to associated with SNP rs10499194 and rs6920220 {Rheumatoid arthritis, susceptibility to}, 180300 (2)
chr6 130000000 138300000 6q23 614494 RP63 Retinitis pigmentosa 63 RP63 100862681 between D6S457 and D6S1656 Retinitis pigmentosa 63, 614494 (2), Autosomal dominant
chr6 130000000 138300000 6q23 612378 SLEB13 Systemic lupus erythematosus, susceptibility to, 13 100196918 associated with rs5029939 {Systemic lupus erythematosus, susceptibility to, 13}, 612378 (2)
chr6 130000000 142200000 6q23-q24.1 608220 SPG25 Spastic paraplegia 25, autosomal recessive, with disc herniation SPG25 387583 Spastic paraplegia 25, autosomal recessive, 608220 (2), Autosomal recessive
chr6 130827954 131063321 6q22-q23 6q23.1-q23.2 603237 EPB41L2 Erythrocyte membrane protein band 4.1-like 2 EPB41L2 2037 ENSG00000079819 Epb41l2 (MGI:103009)
chr6 131573158 131584331 6q23 6q23.2 608313 ARG1 Arginase, liver ARG1 383 ENSG00000118520 Argininemia, 207800 (3), Autosomal recessive Arg1 (MGI:88070)
chr6 131573965 131628238 6q23.2 6q23.2 605042 MED23, MRT18 Mediator complex subunit 23 MED23 9439 ENSG00000112282 Mental retardation, autosomal recessive 18, 614249 (3), Autosomal recessive Med23 (MGI:1917458)
chr6 131637234 131747412 6q22 6q23.2 602182 ENPP3, PDNP3 Ectonucleotide pyrophosphatase/phosphodiesterase 3 ENPP3 5169 ENSG00000154269 Enpp3 (MGI:2143702)
chr6 131808015 131895154 6q22-q23 6q23.2 173335 ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of) ENPP1 5167 ENSG00000197594 Arterial calcification, generalized, of infancy, 1, 208000 (3), Autosomal recessive; Cole disease, 615522 (3), Autosomal dominant; {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant; Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3); {Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Enpp1 (MGI:97370)
chr6 131948175 131951377 6q23.1 6q23.2 121009 CTGF, NOV2 Connective tissue growth factor CTGF 1490 ENSG00000118523 proximal to MYB Ctgf (MGI:95537)
chr6 132296054 132401533 6q23.1-q23.3 6q23.2 609000 MOXD1, MOX Monooxygenase, DBH-like, 1 MOXD1 26002 ENSG00000079931 Moxd1 (MGI:1921582)
chr6 132457523 132513471 6q23.2 6q23.2 603217 STX7 Syntaxin 7 STX7 8417 ENSG00000079950 Stx7 (MGI:1858210)
chr6 132538287 132539335 6q23.2 6q23.2 608282 TAR3, TA3 Trace amine receptor 3 TAAR9 134860 ENSG00000237110 Taar9 (MGI:3527454)
chr6 132552683 132553730 6q23.2 6q23.2 606927 GPR102, TA5 G protein-coupled receptor 102 TAAR8 83551 ENSG00000146385 Taar8c,Taar8b,Taar8a (MGI:2685995,MGI:3527452,MGI:2685076)
chr6 132570321 132571358 6q23.2 6q23.2 608923 TAAR6, TRAR4 Trace amine-associated receptor 6 TAAR6 319100 ENSG00000146383 Taar6 (MGI:2685074)
chr6 132588591 132589737 6q23.2 6q23.2 607405 PNR Putative neurotransmitter receptor TAAR5 9038 ENSG00000135569 Taar5 (MGI:2685073)
chr6 132617149 132624274 6q24 6q23.2 604849 TAAR2, GPR58 Trace amine-associated receptor 2 TAAR2 9287 ENSG00000146378 Taar2 (MGI:2685071)
chr6 132644897 132646025 6q23.1 6q23.2 609333 TAAR1, TA1 Trace amine-associated receptor 1 TAAR1 134864 ENSG00000146399 Taar1 (MGI:2148258)
chr6 132680857 132714054 6q23-q24 6q23.2 603570 VNN1, HDLCQ8 Vanin 1 VNN1 8876 ENSG00000112299 [High density lipoprotein cholesterol level QTL 8] (3) Vnn1 (MGI:108395)
chr6 132722786 132734764 6q23-q24 6q23.2 606592 VNN3 Vanin 3 VNN3 55350 ENSG00000093134
chr6 132743502 132763488 6q23-q24 6q23.2 603571 VNN2 Vanin 2 VNN2 8875 ENSG00000112303
chr6 132769367 132798655 6q22.3 6q23.2 613361 C6orf192 Chromosome 6 open reading frame 192 SLC18B1 116843 ENSG00000146409 Slc18b1 (MGI:1923556)
chr6 132814568 132817563 6q 6q23.2 603660 RPS12 Ribosomal protein S12 RPS12 6206 ENSG00000112306 Rps12 (MGI:98105)
chr6 133240339 133532119 6q23 6q23.2 603550 EYA4, DFNA10, CMD1J Eyes absent, Drosophila, homolog of, 4 EYA4 2070 ENSG00000112319 Cardiomyopathy, dilated, 1J, 605362 (3); Deafness, autosomal dominant 10, 601316 (3), Autosomal dominant Eya4 (MGI:1337104)
chr6 133502251 133889005 6q23.2 6q23.2 616058 TARID TCF21 antisense RNA inducing promoter demethylation TARID 100507308
chr6 133889120 133895536 6q23-q24 6q23.2 603306 TCF21, POD1 Transcription factor-21 (epicardin; podocyte-expressed 1) TCF21 6943 ENSG00000118526 Tcf21 (MGI:1202715)
chr6 133987580 134052650 6q23.2 6q23.2 610372 SLC2A12, GLUT12 Solute carrier family 2 (facilitated glucose transporter), member 12 SLC2A12 154091 ENSG00000146411 Slc2a12 (MGI:3052471)
chr6 134169245 134318111 6q23 6q23.2 602958 SGK1 Serum/glucocorticoid-regulated kinase 1 SGK1 6446 ENSG00000118515 Sgk1 (MGI:1340062)
chr6 134700000 138300000 6q23.3 614645 MPVQTL5 Mean platelet volume quantitative trait locus 5 100887752 associated with rs9399137 Mean platelet volume QTL5, 614645 (2)
chr6 134917389 134950121 6q23.2 6q23.3 606467 ALDH8A1, ALDH12 Aldehyde dehydrogenase 8 family, member A1 ALDH8A1 64577 ENSG00000118514 Aldh8a1 (MGI:2653900)
chr6 134960377 135054897 6q24 6q23.3 612450 HBS1L, KIAA1038, ERFS HBS1-like protein HBS1L 10767 ENSG00000112339 Hbs1l (MGI:1891704)
chr6 135181314 135219172 6q22 6q23.3 189990 MYB Avian myeloblastosis viral (v-myb) oncogene homolog MYB 4602 ENSG00000118513 {T-cell acute lymphoblastic leukemia} (3) Myb (MGI:97249)
chr6 135283971 135497770 6q23.3 6q23.3 608894 AHI1 Abelson helper integration site 1 AHI1 54806 ENSG00000135541 Joubert syndrome 3, 608629 (3), Autosomal recessive Ahi1 (MGI:87971)
chr6 135851695 136195570 6q23.3 6q23.3 604645 PDE7B Phosphodiesterase 7B, cAMP-specific, high-affinity PDE7B 27115 ENSG00000171408 Pde7b (MGI:1352752)
chr6 136256862 136289850 6q22-q23 6q23.3 612588 BCLAF1, BTF, KIAA0164 BCL2-associated transcription factor 1 BCLAF1 9774 ENSG00000029363 Bclaf1 (MGI:1917580)
chr6 136342280 136550818 6q22-q25 6q23.3 604108 MAP7, EMAP115 Microtubule-associated protein-7 MAP7 9053 ENSG00000135525 Map7 (MGI:1328328)
chr6 136557045 136793097 6q22.33 6q23.3 602448 MAP3K5, MEKK5, MAPKKK5, ASK1 Mitogen-activated protein kinase kinase kinase 5 MAP3K5 4217 ENSG00000197442 Map3k5 (MGI:1346876)
chr6 136821682 136913933 6q23.3 6q23.3 601757 PEX7, RCDP1, PBD9B Peroxisomal biogenesis factor-7 PEX7 5191 ENSG00000112357 Peroxisome biogenesis disorder 9B, 614879 (3); Rhizomelic chondrodysplasia punctata, type 1, 215100 (3), Autosomal recessive Pex7 (MGI:1321392)
chr6 136922240 136925659 6q23.3 6q23.3 612519 SLC35D3 Solute carrier family 35, member D3 SLC35D3 340146 ENSG00000182747 Slc35d3 (MGI:1923407)
chr6 136999970 137045179 6q23 6q23.3 605620 IL20RA Interleukin 20 receptor, alpha IL20RA 53832 ENSG00000016402 Il20ra (MGI:3605069)
chr6 137143819 137173647 6q24.1-q24.2 6q23.3 606648 IL22BP, IL22RA2 Interleukin 22-binding protein IL22RA2 116379 ENSG00000164485 Il22ra2 (MGI:2665114)
chr6 137197483 137220350 6q23.3 6q23.3 107470 IFNGR1, IMD27A, IMD27B Immune interferon, receptor for IFNGR1 3459 ENSG00000027697 {H. pylori infection, susceptibility to}, 600263 (3); {Hepatitis B virus infection, susceptibility to}, 610424 (3); Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3), Autosomal recessive; Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3), Autosomal dominant; {Tuberculosis infection, protection against}, 607948 (3); {Tuberculosis, susceptibility to}, 607948 (3) Ifngr1 (MGI:107655)
chr6 137492198 137494393 6q23.3 6q23.3 609323 OLIG3, BHLHB7 Oligodendrocyte lineage transcription factor 3 OLIG3 167826 ENSG00000177468 Olig3 (MGI:2149955)
chr6 137866316 137883313 6q23 6q23.3 191163 TNFAIP3, A20, OTUD7C, AISBL Tumor necrosis factor-alpha-induced protein 3 TNFAIP3 7128 ENSG00000118503 Autoinflammatory syndrome, familial, Behcet-like, 616744 (3), Autosomal dominant Tnfaip3 (MGI:1196377)
chr6 138088504 138107522 6q23.3 6q23.3 609301 PERP p53 effector related to PMP22 PERP 64065 ENSG00000112378 Perp (MGI:1929938)
chr6 138161689 138344662 6q23.3-q24.1 6q23.3-q24.1 617411 ARFGEF3, BIG3, KIAA1244 ADP-ribosylation factor guanine nucleotide exchange factor 3 ARFGEF3 57221 ENSG00000112379 Arfgef3 (MGI:106387)
chr6 138215985 138218489 6q23-q24 6q23.3 605669 PBOV1, UROC28, UC28 Prostate and breast cancer overexpressed 1 PBOV1 59351 ENSG00000254440
chr6 138300000 160600000 6q24-q25 612863 DEL6q24q25, C6DELq25q25 Chromosome 6q24-q25 deletion syndrome Chromosome 6q25-q25 deletion syndrome, 612863 (4)
chr6 138300000 160600000 6q24-q25 606255 STQTL1 Stature quantitative trait locus 1 associated with rs4896582 and rs3748069 {Stature QTL 1}, 606255 (2)
chr6 138403530 138413444 6q24 6q24.1 605825 C6orf34, SOUL Soul, chicken, homolog of HEBP2 23593 ENSG00000051620 Hebp2 (MGI:1860084)
chr6 138773516 138793318 6q24.1 6q24.1 615353 CCDC28A, C6orf80 Coiled-coil domain-containing 28A CCDC28A 25901 ENSG00000024862 Ccdc28a (MGI:2443508)
chr6 138904014 138988260 6q23.1-q24.1 6q24.1 614825 REPS1, NBIA7 RALBP1-associated EPS domain-containing protein 1 REPS1 85021 ENSG00000135597 mutation identified in 1 NBIA7 family ?Neurodegeneration with brain iron accumulation 7, 617916 (3), Autosomal recessive Reps1 (MGI:1196373)
chr6 139135111 139180808 6q24.1 6q24.1 607977 HECA, HDC Headcase, Drosophila, homolog of HECA 51696 ENSG00000112406 Heca (MGI:2685715)
chr6 139372254 139374649 6q23.3 6q24.1 602937 CITED2, MRG1, P35SRJ, VSD2, ASD8 CBP/p300-interacting transactivator, with glu/asp-rich C-terminal domain, 2 CITED2 10370 ENSG00000164442 ?pseudogene on 1q22 Atrial septal defect 8, 614433 (3), Autosomal dominant; Ventricular septal defect 2, 614431 (3), Autosomal dominant Cited2 (MGI:1306784)
chr6 142074483 142147204 6q21-qter 6q24.1 162341 NMBR Neuromedin B receptor NMBR 4829 ENSG00000135577 Nmbr (MGI:1100525)
chr6 142147161 142220947 6q24.1 6q24.1-q24.2 610902 C6orf55, SBP1, LIP5, VTA1, DRG1 SKD1-binding protein 1 VTA1 51534 ENSG00000009844 Vta1 (MGI:1913451)
chr6 142200000 155200000 6q24.2-q25.2 127500 DUH1, DUH Dyschromatosis universalis hereditaria 1 387570 max lod at D6S1553 Dyschromatosis universalis hereditaria 1, 127500 (2), Autosomal dominant
chr6 142301918 142446265 6q24.1 6q24.2 612243 ADGRG6, PR126, VIGR, LCCS9 Adhesion G protein-coupled receptor G6 ADGRG6 57211 ENSG00000112414 Lethal congenital contracture syndrome 9, 616503 (3), Autosomal recessive Adgrg6 (MGI:1916151)
chr6 142751466 142945755 6q23-q24 6q24.2 143054 HIVEP2, MRD43 Human immunodeficiency virus type I enhancer-binding protein-2 HIVEP2 3097 ENSG00000010818 Mental retardation, autosomal dominant 43, 616977 (3), Autosomal dominant Hivep2 (MGI:1338076)
chr6 143422831 143450749 6q24.2 6q24.2 615388 ADAT2, TAD2 Adenosine deaminase, tRNA-specific, 2 ADAT2 134637 ENSG00000189007 Adat2 (MGI:1914007)
chr6 143450780 143490615 6q24.2 6q24.2 603164 PEX3, PBD10A, PBD10B Peroxisomal biogenesis factor-3 PEX3 8504 ENSG00000034693 mutation identified in 1 PBD10B patient Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3), Autosomal recessive; ?Peroxisome biogenesis disorder 10B, 617370 (3), Autosomal recessive Pex3 (MGI:1929646)
chr6 143494811 143511882 6q24.2 6q24.2 136820 FUCA2 Fucosidase, alpha-L- 2, plasma FUCA2 2519 ENSG00000001036 linked to PLG Fuca2 (MGI:1914098)
chr6 143608179 143831184 6q24.2 6q24.2 608724 PHACTR2, KIAA0680 Phosphatase and actin regulator 2 PHACTR2 9749 ENSG00000112419 Phactr2 (MGI:2446138)
chr6 143940299 144064598 6q24 6q24.2 603044 PLAGL1, ZAC, LOT1 Pleomorphic adenoma gene-like 1 (ZAC tumor suppressor) PLAGL1 5325 ENSG00000118495 relaxed imprinting in TNDM {Diabetes mellitus, transient neonatal}, 601410 (1) Plagl1 (MGI:1100874)
chr6 144004915 144008729 6q24 6q24.2 606546 HYMAI Hydatidiform mole-associated and imprinted transcript HYMAI 57061
chr6 144094880 144095616 6q24.2 6q24.2 617847 SF3B5, SF3B10 Splicing factor 3B, subunit 5 SF3B5 83443 ENSG00000169976 Sf3b5 (MGI:1913375)
chr6 144140043 144191938 6q24 6q24.2 605014 STX11, FHL4, HPLH4, HLH4 Syntaxin-11 STX11 8676 ENSG00000135604 Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3), Autosomal recessive Stx11 (MGI:1921982)
chr6 144284954 144853033 6q24 6q24.2 128240 UTRN, DMDL, DRP1 Utrophin (homologous to dystrophin) UTRN 7402 ENSG00000152818 near dy in mouse Utrn (MGI:104631)
chr6 145382539 145736020 6q24 6q24.3 607566 EPM2A, MELF, EPM2 Laforin EPM2A 7957 ENSG00000112425 Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3), Autosomal recessive Epm2a (MGI:1341085)
chr6 145798134 145864408 6q24 6q24.3 609101 FBXO30, FBX30 F-box only protein 30 FBXO30 84085 ENSG00000118496 Fbxo30 (MGI:1919115)
chr6 146027633 146437597 6q24 6q24.3 604473 GRM1, MGLUR1, GRM1A, SCAR13, SCA44 Glutamate receptor, metabotropic, 1 GRM1 2911 ENSG00000152822 Spinocerebellar ataxia 44, 617691 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 13, 614831 (3), Autosomal recessive Grm1 (MGI:1351338)
chr6 146543691 146554955 6q24.3 6q24.3 612906 RAB32 Ras-associated protein RAB32 RAB32 10981 ENSG00000118508 Rab32 (MGI:1915094)
chr6 146598964 146815461 6q24.3 6q24.3 614630 ADGB Androglobin ADGB 79747 ENSG00000118492 Adgb (MGI:3605549)
chr6 147204183 147390475 6q24.3 6q24.3 604586 STXBP5 Syntaxin-binding protein 5 (tomosyn) STXBP5 134957 ENSG00000164506 Stxbp5 (MGI:1926058)
chr6 148193439 148552049 6q24.3 6q24.3-q25.1 607955 SASH1, KIAA0790 Sterile alpha motifs- and SH3 domain-containing protein 1 SASH1 23328 ENSG00000111961 Sash1 (MGI:1917347)
chr6 148500000 160600000 6q25 612114 BMND11 Bone mineral density quantitative trait locus 11 100188884 associated with rs4870044, rs1038304, and rs1999805 [Bone mineral density QTL 11], 612114 (2)
chr6 148500000 160600000 6q25 612521 IDDM21 Diabetes mellitus, insulin-dependent, 21 associated with rs1738074 {Diabetes mellitus, insulin-dependent, 21}, 612521 (2)
chr6 148500000 170805979 6q25-q27 600883 IDDM8 Insulin-dependent diabetes mellitus-8 IDDM8 3407 {Diabetes mellitus, insulin-dependent, 8}, 600883 (2)
chr6 148500000 164100000 6q25-q26 180020 RCD1 Retinal cone dystrophy-1 RCD1 5953 ?Retinal cone dystrophy-1, 180020 (2), Autosomal dominant
chr6 148745890 149076989 6q25.1 6q25.1 610752 UST Uronyl 2-sulfotransferase UST 10090 ENSG00000111962 Ust (MGI:2442406)
chr6 149217923 149411612 6q25 6q25.1 605101 TAB2, MAP3K7IP2, KIAA0733, CHTD2 Tak1 (MAP3K7) binding protein 2 TAB2 23118 ENSG00000055208 Congenital heart defects, nonsyndromic, 2, 614980 (3), Autosomal dominant Tab2 (MGI:1915902)
chr6 149400358 149401045 6q25 6q25.1 608829 SUMO4, IDDM5 Small ubiquitin-like modifier 4 SUMO4 387082 ENSG00000177688 {Diabetes mellitus, insulin-dependent, 5}, 600320 (3)
chr6 149447629 149485011 6q25.1 6q25.1 611106 ZC3H12D, p34, C6orf95 Zinc finger CCCH domain-containing protein 12D ZC3H12D 340152 ENSG00000178199 Zc3h12d (MGI:3045313)
chr6 149504494 149546101 6q24-q25 6q25.1 607609 PPIL4 Peptidyl-prolyl isomerase-like 4 PPIL4 85313 ENSG00000131013 Ppil4 (MGI:1914668)
chr6 149594872 149649017 6q25.1 6q25.1 606696 KATNA1 Katanin, p60 subunit, A1 KATNA1 11104 ENSG00000186625 Katna1 (MGI:1344353)
chr6 149658152 149718255 6q25.1 6q25.1 603473 LATS1 Large tumor suppressor, Drosophila, homolog of, 1 LATS1 9113 ENSG00000131023 Lats1 (MGI:1333883)
chr6 149724314 149746571 6q24.3 6q25.1 608141 NUP43 Nucleoporin, 43kD NUP43 348995 ENSG00000120253 Nup43 (MGI:1917162)
chr6 149749694 149811420 6q22.3-q24 6q25.1 176851 PCMT1 Protein-L-isoaspartate (D-aspartate) O-methyltransferase PCMT1 5110 ENSG00000120265
chr6 149941937 149949234 6q25 6q25.1 605698 ULBP2 UL16-binding protein 2 ULBP2 80328 ENSG00000131015
chr6 149963973 149973714 6q25 6q25.1 605697 ULBP1 UL16-binding protein 1 ULBP1 80329 ENSG00000111981 Ulbp1 (MGI:1925027)
chr6 150018333 150025595 6q24.2-q25.3 6q25.1 611047 RAET1L Retinoic acid early transcript 1L RAET1L 154064 ENSG00000155918
chr6 150061045 150069146 6q25 6q25.1 605699 ULBP3 UL16-binding protein 3 ULBP3 79465 ENSG00000131019
chr6 150143051 150250391 6q24.3-q25.3 6q25.1 613242 PPP1R14C, KEPI Protein phosphatase 1, regulatory subunit 14C PPP1R14C 81706 ENSG00000198729 Ppp1r14c (MGI:1923392)
chr6 150368853 150404628 6q24-q25 6q25.1 612025 IYD, DEHAL1, TDH4 Iodotyrosine deiodinase IYD 389434 ENSG00000009765 Thyroid dyshormonogenesis 4, 274800 (3), Autosomal recessive Iyd (MGI:1917587)
chr6 150865678 151101886 6q25.2 6q25.1 611427 MTHFD1L, MTC1THFS Methylenetetrahydrofolate dehydrogenase 1-like, NADP(+)-dependent MTHFD1L 25902 ENSG00000120254 Mthfd1l (MGI:1924836)
chr6 151364114 151391704 6q25.1 6q25.1 616595 ZBTB2, ZNF437, KIAA1483 Zinc finger- and BTB domain-containing protein 2 ZBTB2 57621 ENSG00000181472 Zbtb2 (MGI:2685949)
chr6 151404547 151452180 6q25 6q25.1 614917 RMND1, COXPD11 Required for meiotic nuclear division 1, S. cerevisiae, homolog of RMND1 55005 ENSG00000155906 Combined oxidative phosphorylation deficiency 11, 614922 (3), Autosomal recessive Rmnd1 (MGI:1913334)
chr6 151452257 151470100 6q25.1 6q25.1 616332 ARMT1, C6orf211 Acidic residue methyltransferase 1 ARMT1 79624 ENSG00000146476 Armt1 (MGI:1920669)
chr6 151654147 152129603 6q25.1 6q25.1-q25.2 133430 ESR1, ESR, ESTRR Estrogen receptor 1 ESR1 2099 ENSG00000091831 {Atherosclerosis, susceptibility to} (3); {Breast cancer}, 114480 (1), Autosomal dominant; Estrogen resistance, 615363 (3), Autosomal recessive; {HDL response to hormone replacement, augmented} (3); {Migraine, susceptibility to}, 157300 (3), Autosomal dominant; {Myocardial infarction, susceptibility to}, 608446 (3) Esr1 (MGI:1352467)
chr6 152121683 152637398 6q25 6q25.2 608441 SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4 Spectrin repeat-containing nuclear envelope protein 1 (nesprin 1) SYNE1 23345 ENSG00000131018 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 8, 610743 (3), Autosomal recessive Syne1 (MGI:1927152)
chr6 152697894 152747174 6q25 6q25.2 616805 MYCT1, MTLC MYC target in myeloid cells 1 MYCT1 80177 ENSG00000120279 Myct1 (MGI:1915882)
chr6 152750796 152759764 6q26-q27 6q25.2 192320 VIP Vasoactive intestinal peptide VIP 7432 ENSG00000146469 Vip (MGI:98933)
chr6 152970518 152983618 6q25-q26 6q25.2 606013 FBXO5, FBX5, EMI1 F-box only protein 5 FBXO5 26271 ENSG00000112029 Fbxo5 (MGI:1914391)
chr6 154010495 154246866 6q24-q25 6q25.2 600018 OPRM1 Opioid receptor, mu-1 OPRM1 4988 ENSG00000112038 Oprm1 (MGI:97441)
chr6 154405146 154510658 6q25.2 6q25.2 617476 CNKSR3, CNK3 CNKSR family, member 3 CNKSR3 154043 ENSG00000153721 Cnksr3 (MGI:2674130)
chr6 154733377 154834243 6q25.2 6q25.2 616024 SCAF8, KIAA1116 SR-related C-terminal domain-associated factor 8 SCAF8 22828 ENSG00000213079 Scaf8 (MGI:1925212)
chr6 155090288 155257722 6q25.2-q25.3 6q25.2-q25.3 604709 TIAM2 T-cell lymphoma invasion and metastasis 2 TIAM2 26230 ENSG00000146426 Tiam2 (MGI:1344338)
chr6 155200000 160600000 6q25.3 612010 CELIAC12 Celiac disease, susceptibility to, 12 100188874 in LD block containing TAGAP {Celiac disease, susceptibility to, 12}, 612010 (2)
chr6 155229870 155314496 6q25 6q25.3 607033 TFB1M, CGI75 Transcription factor B1, mitochondrial TFB1M 51106 ENSG00000029639 Tfb1m (MGI:2146851)
chr6 155395367 155455902 6q25.1 6q25.3 607105 NOX3 NADPH oxidase 3 NOX3 50508 ENSG00000074771 Nox3 (MGI:2681162)
chr6 156777846 157210778 6q25.1 6q25.3 614556 ARID1B, BAF250B, KIAA1235, MRD12, CSS1 AT-rich interaction domain-containing protein 1B ARID1B 57492 ENSG00000049618 Coffin-Siris syndrome 1, 135900 (3), Autosomal dominant Arid1b (MGI:1926129)
chr6 157716045 157945076 6q26.3 6q25.3 605952 SNX9, SH3PX1 Sorting nexin 9 SNX9 51429 ENSG00000130340 Snx9 (MGI:1913866)
chr6 157981855 158099175 6q25.3 6q25.3 609410 SYNJ2, KIAA0348 Synaptojanin 2 SYNJ2 8871 ENSG00000078269 Synj2 (MGI:1201671)
chr6 158109503 158168279 6q25.3 6q25.3 614725 SERAC1, MEGDEL Serine active site-containing protein 1 SERAC1 84947 ENSG00000122335 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3), Autosomal recessive Serac1 (MGI:2447813)
chr6 158168315 158199343 6q25.3 6q25.3 608780 GTF2H5, TTD3, TFB5, C6orf175, TTDA General transcription factor IIH, polypeptide 5 GTF2H5 404672 ENSG00000272047 Trichothiodystrophy 3, photosensitive, 616395 (3) Gtf2h5 (MGI:107227)
chr6 158536431 158635434 6q25.3 6q25.3 613209 TMEM181, GPR178, KIAA1423 Transmembrane protein 181 TMEM181 57583 ENSG00000146433 Tmem181a (MGI:1924356)
chr6 158636473 158644785 6q25.2-q25.3 6q25.3 601554 TCTEL1 T-complex-associated-testis-expressed 1-like 1 DYNLT1 6993 ENSG00000146425 Dynlt1c,Dynlt1b,Dynlt1a,Dynlt1f (MGI:3807476,MGI:3780996,MGI:98643,MGI:3807506)
chr6 158765740 158819423 6q25.3 6q25.3 123900 EZR, VIL2, CVL Ezrin EZR 7430 ENSG00000092820 coamplified with MYB Ezr (MGI:98931)
chr6 158947011 159000425 6q25.3 6q25.3 615876 RSPH3, RSHL2, RSP3, CILD32 Radial spoke head 3, Chlamydomonas, homolog of RSPH3 83861 ENSG00000130363 Ciliary dyskinesia, primary, 32, 616481 (3), Autosomal recessive Rsph3a,Rsph3b (MGI:1914082,MGI:3630308)
chr6 159034467 159045151 6q25.3 6q25.3 609667 TAGAP T-cell activation GTPase-activating protein TAGAP 117289 ENSG00000164691 Tagap (MGI:3615484)
chr6 159169396 159272107 6q25 6q25.3 609991 FNDC1, AGS8, KIAA1866 Fibronectin type III domain-containing protein 1 FNDC1 84624 ENSG00000164694
chr6 159679063 159762528 6q25.3 6q25.3 147460 SOD2, MNSOD, MVCD6 Superoxide dismutase-2, mitochondrial SOD2 6648 ENSG00000112096 {Microvascular complications of diabetes 6}, 612634 (3) Sod2 (MGI:98352)
chr6 159726695 159756318 6q25.3 6q25.3 605442 WTAP Wilms tumor 1-associating protein WTAP 9589 ENSG00000146457 Wtap (MGI:1926395)
chr6 159761956 159779111 6q25.3-q26 6q25.3 100678 ACAT2 Acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) ACAT2 39 ENSG00000120437 encoded on strand opposite TCP1 ?ACAT2 deficiency, 614055 (1), Isolated cases Acat3,Acat2 (MGI:109182,MGI:87871)
chr6 159778497 159789702 6q25.3-q26 6q25.3 186980 TCP1 T-complex locus TCP-1 TCP1 6950 ENSG00000120438 tightly linked to PLG; ~15cM proximal to TCP10; overlap with ACAT2 Tcp1 (MGI:98535)
chr6 159789811 159798428 6q25.3 6q25.3 611831 MRPL18 Mitochondrial ribosomal protein L18 MRPL18 29074 ENSG00000112110 Mrpl18 (MGI:1914931)
chr6 159906941 159908075 6q24-q27 6q25.3 165180 MAS1 Oncogene MAS1 MAS1 4142 ENSG00000130368 Mas1 (MGI:96918)
chr6 159969098 160111503 6q26 6q25.3 147280 IGF2R, MPRI Insulin-like growth factor-2 receptor (mannose-6-phosphate receptor, cation-independent) IGF2R 3482 ENSG00000197081 behaves as a tumor suppressor Hepatocellular carcinoma, somatic, 114550 (3) Igf2r (MGI:96435)
chr6 160003290 160007663 6q26 6q25.3 604893 AIRN, AIR Antisense IGF2R RNA, noncoding AIRN 100271873
chr6 160121807 160160589 6q26 6q25.3 602607 SLC22A1, OCT1 Solute carrier family 22 (organic cation transporter), member 1 SLC22A1 6580 ENSG00000175003 Slc22a1 (MGI:108111)
chr6 160216761 160258930 6q26 6q25.3 602608 SLC22A2, OCT2 Solute carrier family 22 (organic cation transporter), member 2 SLC22A2 6582 ENSG00000112499 Slc22a2 (MGI:1335072)
chr6 160348372 160454981 6q27 6q25.3 604842 SLC22A3, EMT Solute carrier family 22 (extraneuronal monoamine transporter), member 3 SLC22A3 6581 ENSG00000146477 Slc22a3 (MGI:1333817)
chr6 160466554 160511123 6q26-q27 6q25.3 611682 LPAL2, APOARGC Lipoprotein(a)-like 2 LPAL2 80350
chr6 160531482 160666374 6q27 6q25-q26 152200 LPA Apolipoprotein Lp(a) LPA 4018 ENSG00000198670 absent in mice {Coronary artery disease, susceptibility to} (1); [LPA deficiency, congenital] (3)
chr6 160600000 170805979 6q26-q27 608219 DFNB38 Deafness, autosomal recessive 38 DFNB38 337991 Deafness, autosomal recessive 38, 608219 (2), Autosomal recessive
chr6 160600000 170805979 6q26-q27 614347 MRT28 Mental retardation, autosomal recessive 28 MRT28 100852396 between rs6935718 and rs3886091 Mental retardation, autosomal recessive 28, 614347 (2), Autosomal recessive
chr6 160702192 160754053 6q26 6q26 173350 PLG Plasminogen PLG 5340 ENSG00000122194 20cM from TCP10A Dysplasminogenemia, 217090 (3), Autosomal recessive; Plasminogen deficiency, type I, 217090 (3), Autosomal recessive Plg (MGI:97620)
chr6 160991520 161117384 6q26 6q26 602425 MAP3K4, MEKK4, MTK1, MAPKKK4 Mitogen-activated protein kinase kinase kinase 4 MAP3K4 4216 ENSG00000085511 Map3k4 (MGI:1346875)
chr6 161129979 161274107 6q26 6q26 614795 AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 AGPAT4 56895 ENSG00000026652 Agpat4 (MGI:1915512)
chr6 161347416 162727801 6q25.2-q27 6q26 602544 PRKN, PARK2, PDJ, LPRS2 Parkin PRKN 5071 ENSG00000185345 shares 5' regulatory region and both 3' UTRs with PACRG Adenocarcinoma of lung, somatic, 211980 (3); Adenocarcinoma, ovarian, somatic, 167000 (3); {Leprosy, susceptibility to}, 607572 (3); Parkinson disease, juvenile, type 2, 600116 (3), Autosomal recessive Park2 (MGI:1355296)
chr6 162726869 163315491 6q25-q27 6q26 608427 PACRG Parkin coregulated gene PACRG 135138 ENSG00000112530 shares 5' regulatory region and both 3' UTRs with PARK2 Pacrg (MGI:1916560)
chr6 163413064 163413949 6q26 6q26 615930 CAHM, LINC00468 Colorectal adenocarcinoma hypermethylated gene, noncoding CAHM 100526820
chr6 163414485 163578595 6q26 6q26 609590 QKI, QK1 Quaking, mouse, homolog of QKI 9444 ENSG00000112531 Qk (MGI:97837)
chr6 164100000 170805979 6q27 215400 CHDM Chordoma associated with duplication of the T gene {Chordoma, susceptibility to}, 215400 (4), Autosomal dominant
chr6 164100000 170805979 6q27 616837 HPAT5 Human pluripotency-associated transcript 5, noncoding
chr6 164100000 170805979 6q27 611382 KAZA3 Kala-azar, susceptibility to, 3 101241899 {Kala-azar, susceptibility to, 3}, 611382 (2)
chr6 165327286 165988114 6q27 6q27 610652 PDE10A, IOLOD, ADSD2 Phosphodiesterase 10A PDE10A 10846 ENSG00000112541 Dyskinesia, limb and orofacial, infantile-onset, 616921 (3), Autosomal recessive; Striatal degeneration, autosomal dominant, 616922 (3), Autosomal dominant Pde10a (MGI:1345143)
chr6 166157643 166168668 6q27 6q27 601397 T, TFT, SAVA Brachyury, mouse, homolog of TBXT 6862 ENSG00000164458 {Neural tube defects, susceptibility to}, 182940 (3), Autosomal dominant; Sacral agenesis with vertebral anomalies, 615709 (3), Autosomal recessive T (MGI:98472)
chr6 166364918 166383012 6q27 6q27 614738 BRP44L, MPC1, MPYCD Brain protein 44-like MPC1 51660 ENSG00000060762 Mitochondrial pyruvate carrier deficiency, 614741 (3), Autosomal recessive Mpc1 (MGI:1915240)
chr6 166409363 166862550 6q27 6q27 601685 RPS6KA2, RSK3 Ribosomal protein S6 kinase, 90kD, 2 RPS6KA2 6196 ENSG00000071242 Rps6ka2 (MGI:1342290)
chr6 166929508 166956588 6q27 6q27 612944 RNASET2, RNASE6PL Ribonuclease T2 RNASET2 8635 ENSG00000026297 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3), Autosomal recessive Rnaset2a,Rnaset2b (MGI:3702087,MGI:1915445)
chr6 166999316 167042417 6q27 6q27 605392 FGFR1OP, FOP Fibroblast growth factor receptor-1 oncogene partner FGFR1OP 11116 ENSG00000213066 fusion gene with ZNF198, CEP1, and FGFR1 Myeloproliferative disorder, 605392 (2) Fgfr1op (MGI:1922546)
chr6 167111806 167139140 6q27 6q27 601835 CCR6, CMKBR6, CKRL3, GPR29, GPRCY4 Chemokine (C-C) receptor 6 CCR6 1235 ENSG00000112486 Ccr6 (MGI:1333797)
chr6 167156871 167157830 6q27 6q27 602043 GPR31 G protein-coupled receptor-31 GPR31 2853 ENSG00000120436 Gpr31b (MGI:1354372)
chr6 167269031 167316013 6q27 6q27 607995 UNC93A UNC93, C. elegans, homolog of, A UNC93A 54346 ENSG00000112494 Unc93a,Gm9992 (MGI:1933250,MGI:3712668)
chr6 167357355 167384545 6q27 6q27 187020 TCP10 T-complex 10 (a murine tcp homolog) TCP10 6953 ENSG00000203690
chr6 167826871 167972022 6q27 6q27 159559 AFDN, MLLT4, AF6 Afadin AFDN 4301 ENSG00000130396 Afdn (MGI:1314653)
chr6 167999091 168045106 6q27 6q27 603815 KIF25, KNSL3 Kinesin family member 25 KIF25 3834 ENSG00000125337
chr6 168292829 168319753 6q27 6q27 608966 DACT2, DPR2, DAPPER2 Dapper, antagonist of beta-catenin, 2 DACT2 168002 ENSG00000164488 Dact2 (MGI:1920347)
chr6 168441150 168667993 6q27 6q27 607223 SMOC2, SMAP2, DTDP1 Secreted modular calcium-binding protein 2 SMOC2 64094 ENSG00000112562 Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3), Autosomal recessive Smoc2 (MGI:1929881)
chr6 169215779 169254113 6q27 6q27 188061 THBS2 Thrombospondin 2 THBS2 7058 ENSG00000186340 {Lumbar disc herniation, susceptibility to}, 603932 (3) Thbs2 (MGI:98738)
chr6 169702111 169706357 6q27 6q27 616987 C6orf120 Chromosome 6 open reading frame 120 C6orf120 387263 ENSG00000185127 1600012H06Rik (MGI:1915162)
chr6 169703904 169724009 6q26 6q27 613069 PHF10, BAF45A PHD finger protein 10 PHF10 55274 ENSG00000130024 Phf10 (MGI:1919307)
chr6 169725487 169751582 6q27 6q27 186977 TCTE3 T-complex-associated-testis-expressed-3 TCTE3 6991 ENSG00000184786 Gm3448,Gm3417,Tcte3 (MGI:3809205,MGI:98642,MGI:3781595)
chr6 169751621 169781583 6q27 6q27 615532 ERMARD, C6orf70, PVNH6 Endoplasmic reticulum membrane-associated RNA degradation protein ERMARD 55780 ENSG00000130023 ?Periventricular nodular heterotopia 6, 615544 (3), Autosomal dominant Ermard (MGI:1917317)
chr6 170290702 170407747 6q26-q27 6q27 612266 FAM120B, PGCC1, CCPG, KIAA1838 Family with sequence similarity 120, member B FAM120B 84498 ENSG00000112584 Fam120b (MGI:1914794)
chr6 170535115 170553328 6q27 6q27 602017 PSMB1 Proteasome subunit, beta type, 1 PSMB1 5689 ENSG00000008018 incorrectly assigned to 7p Psmb1 (MGI:104884)
chr6 170554332 170572869 6q27 6q27 600075 TBP, SCA17, HDL4 TATA box binding protein TBP 6908 ENSG00000112592 {Parkinson disease, susceptibility to}, 168600 (3), Isolated cases, Multifactorial; Spinocerebellar ataxia 17, 607136 (3), Autosomal dominant Tbp (MGI:101838)
chr6 170575571 170584691 6q27 6q27 600866 PDCD2 Programmed cell death 2 PDCD2 5134 ENSG00000071994 Pdcd2 (MGI:104643)
chr6 0 170805979 Chr.6 109180 BEVI Baboon M7 virus replication 628
chr6 0 170805979 Chr.6 137010 FEA F9 embryonic antigen 7959
chr6 0 170805979 Chr.6 153435 LAKLG, LAKL Lymphokine-activated killer cell ligand LAKLG 3905
chr6 0 170805979 Chr.6 158050 MRBC Monkey RBC receptor 7960
chr6 0 170805979 Chr.6 187330 TS546 Temperature sensitivity complementation, cell cycle specific, ts546 cells 7963
chr7 0 43300000 7p22-p14 614021 CPVT3 Ventricular tachycardia, catecholaminergic polymorphic, 3 between D7S526 and D7S481 Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (2), Autosomal recessive
chr7 0 7200000 7p22 605626 ERVK-6 Endogenous retroviral group K, member 6 ERVK-6 64006
chr7 0 7200000 7p22 605635 FHII Hyperaldosteronism, familial, type II 79179 Hyperaldosteronism, familial, type II, 605635 (2)
chr7 0 13700000 7p22.3-p21.3 614238 HYPT10 Hypotrichosis 10 100736251 between D7S1532 and D7S3047 Hypotrichosis 10, 614238 (2), Autosomal recessive
chr7 192938 260773 7p22 7p22.3 611061 FAM20C, DMP4 Family with sequence similarity 20, member C FAM20C 56975 ENSG00000177706 Raine syndrome, 259775 (3), Autosomal recessive Fam20c (MGI:2136853)
chr7 497244 520667 7p22 7p22.3 173430 PDGFA Platelet-derived growth factor, alpha polypeptide PDGFA 5154 ENSG00000197461 Pdgfa (MGI:97527)
chr7 549184 727675 7pter-p22 7p22.3 176911 PRKAR1B Protein kinase, cAMP-dependent, regulatory, type I, beta PRKAR1B 5575 ENSG00000188191 Prkar1b (MGI:97759)
chr7 726691 786478 7p22.3 7p22.3 614864 DNAAF5, HEATR2, CILD18 Dynein axonemal assembly factor 5 DNAAF5 54919 ENSG00000164818 Ciliary dyskinesia, primary, 18, 614874 (3), Autosomal recessive Dnaaf5 (MGI:3616079)
chr7 815556 874919 7p22.3 7p22.3 607723 UNC84A, KIAA0810, SUN1 UNC84, C. elegans, homolog of, A SUN1 23353 ENSG00000164828 Sun1 (MGI:1924303)
chr7 876553 896433 7p22.3 7p22.3 612056 GET4, C7orf20, CEE Golgi to ER traffic protein 4, S. cerevisiae, homolog of GET4 51608 ENSG00000239857 Get4 (MGI:1914854)
chr7 897899 955406 7p22.3 7p22.3 608114 CENTA1 Centaurin, alpha-1 ADAP1 11033 ENSG00000105963 Adap1 (MGI:2442201)
chr7 964849 975598 7p22.3 7p22.3 610429 COX19 Cytochrome c oxidase assembly protein Cox19 COX19 90639 ENSG00000240230 Cox19 (MGI:1915283)
chr7 983154 989639 7p22.3 7p22.3 615967 CYP2W1 Cytochrome P450, family 2, subfamily W, polypeptide 1 CYP2W1 54905 ENSG00000073067 Cyp2w1 (MGI:3616076)
chr7 1022932 1023025 7p22.3 7p22.3 615977 MIR339 Micro RNA 339 MIR339 442907
chr7 1086806 1093814 7p22 7p22.3 601805 GPER, CMKRL2, GPR30 G protein-coupled estrogen receptor 1 GPER1 2852 ENSG00000164850 Gper1 (MGI:1924104)
chr7 1148849 1160218 7p22.3 7p22.3 610699 ZFAND2A, AIRAP Zinc finger AN1 domain-containing protein 2A ZFAND2A 90637 ENSG00000178381 Zfand2a (MGI:2140729)
chr7 1470276 1504381 7p22.3 7p22.3 611345 INTS1, INT1, KIAA1440 Integrator complex subunit 1 INTS1 26173 ENSG00000164880 Ints1 (MGI:1915760)
chr7 1530731 1543042 7p22 7p22.3 600197 MAFK, NFE2U V-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein K (nuclear factor erythroid 2, ubiquitous subunit) MAFK 7975 ENSG00000198517 Mafk (MGI:99951)
chr7 1567331 1570489 7p22.3 7p22.3 617528 PSMG3, PAC3 Proteasome assembly chaperone 3 PSMG3 84262 ENSG00000157778 Psmg3 (MGI:1913756)
chr7 1666074 1747953 7p22.3 7p22.3 614964 ELFN1, PPP1R28 Extracellular leucine-rich repeat and fibronectin type III domain-containing protein 1 ELFN1 392617 ENSG00000225968 Elfn1 (MGI:2442479)
chr7 1815791 2232970 7p22 7p22.3 602686 MAD1L1, TXBP181 Mitotic arrest-deficient 1, yeast, homolog-like 1 MAD1L1 8379 ENSG00000002822 Lymphoma, somatic (3); Prostate cancer, somatic, 176807 (3) Mad1l1 (MGI:1341857)
chr7 2234290 2242197 7p22 7p22.3 606906 FTSJ2, FJH1 FTSJ, E. coli, homolog of, 2 MRM2 29960 ENSG00000122687 Mrm2 (MGI:1915267)
chr7 2242221 2251144 7p22 7p22.3 600312 NUDT1, MTH1 Nudix-type motif 1 NUDT1 4521 ENSG00000106268 Nudt1 (MGI:109280)
chr7 2251769 2354476 7p22.3 7p22.3 614905 SNX8 Sorting nexin 8 SNX8 29886 ENSG00000106266 Snx8 (MGI:2443816)
chr7 2354539 2380744 7p22.2 7p22.3 603917 EIF3B, EIF3S9, PRT1 Eukaryotic translation initiation factor 3, subunit B EIF3B 8662 ENSG00000106263 Eif3b (MGI:106478)
chr7 2403488 2448483 7p22 7p22.3 610129 CHST12, C4ST2 Carbohydrate sulfotransferase 12 CHST12 55501 ENSG00000136213 Chst12 (MGI:1929064)
chr7 2512528 2529176 7p22 7p22.3 602576 LFNG, SCDO3 Lunatic fringe LFNG 3955 ENSG00000106003 mutation identified in 1 SDO3 family ?Spondylocostal dysostosis 3, autosomal recessive, 609813 (3) Lfng (MGI:1095413)
chr7 2537809 2555757 7p22.3 7p22.3 614506 BRAT1, BAAT1, C7orf27, RMFSL BRCA1-associated ATM activator 1 BRAT1 221927 ENSG00000106009 Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3), Autosomal recessive Brat1 (MGI:1891679)
chr7 2558971 2614733 7p22.3 7p22.3 617631 IQCE, KIAA1023, PAPA7 IQ domain-containing protein E IQCE 23288 ENSG00000106012 mutation identified in 1 PAPA7 family ?Polydactyly, postaxial, type A7, 617642 (3), Autosomal recessive Iqce (MGI:1921489)
chr7 2679521 2765186 7p22.3 7p22.3 615168 AMZ1, KIAA1950 Archaelysin family metallopeptidase 1 AMZ1 155185 ENSG00000174945 Amz1 (MGI:2442258)
chr7 2728104 2870655 7p22.2 7p22.3-p22.2 604394 GNA12 Guanine nucleotide-binding protein, alpha-12 GNA12 2768 ENSG00000146535 Gna12 (MGI:95767)
chr7 2906074 3043944 7p22 7p22.2 607210 CARD11, CARMA1, BIMP3, PPBL, BENTA, IMD11A Caspase recruitment domain-containing protein 11 CARD11 84433 ENSG00000198286 B-cell expansion with NFKB and T-cell anergy, 616452 (3), Autosomal dominant; Immunodeficiency 11A, 615206 (3), Autosomal recessive; Immunodeficiency 11B with atopic dermatitis, 617638 (3), Autosomal dominant Card11 (MGI:1916978)
chr7 3301447 4268999 7p22.2 7p22.2 607216 SDK1 Sidekick, Drosophila, homolog of, 1 SDK1 221935 ENSG00000146555 Sdk1 (MGI:2444413)
chr7 4500000 7200000 7p22.1 185100 STBMS1 Strabismus, susceptibility to, 1 100188805 max lod at marker 1911/1912 {Strabismus, susceptibility to, 1}, 185100 (2)
chr7 4642283 4771442 7p22.1 7p22.1 616302 FOXK1, MNF Forkhead box K1 FOXK1 221937 ENSG00000164916 Foxk1 (MGI:1347488)
chr7 4775616 4794394 7p22.1 7p22.1 613653 AP5Z1, KIAA0415, SPG48 Adaptor-related protein complex 5, zeta-1 subunit AP5Z1 9907 ENSG00000242802 Spastic paraplegia 48, autosomal recessive, 613647 (3), Autosomal recessive Ap5z1 (MGI:1924908)
chr7 4799108 4883703 7p22.1 7p22.1 611491 RADIL, KIAA1849 RAP GTPase interactor RADIL 55698 ENSG00000157927 Radil (MGI:2443088)
chr7 4857737 4861993 7p22.1 7p22.1 607436 PAPOLB, TPAP Poly(A) polymerase, beta PAPOLB 56903 ENSG00000218823 Papolb (MGI:1932115)
chr7 4892244 4959212 7p22.1 7p22.1 614581 MMD2, PAQR10 Monocyte-to-macrophage differentiation-associated protein 2 MMD2 221938 ENSG00000136297 Mmd2 (MGI:1922354)
chr7 5045820 5069487 7p22.1 7p22.1 608191 RBAK RB-associated KRAB repressor RBAK 57786 ENSG00000146587 Rbak (MGI:1927369)
chr7 5190203 5233854 7p22.2 7p22.1 609225 WIPI2 WD40 repeat protein interacting with phosphoinositides 2 WIPI2 26100 ENSG00000157954 Wipi2 (MGI:1923831)
chr7 5274310 5304072 7p22.1 7p22.1 609149 SLC29A4, PMAT, ENT4 Solute carrier family 29 (monoamine transporter), member 4 SLC29A4 222962 ENSG00000164638 Slc29a4 (MGI:2385330)
chr7 5454447 5513797 7p22.1 7p22.1 609084 FBXL18, FBL18 F-box and leucine-rich repeat protein 18 FBXL18 80028 ENSG00000155034 Fbxl18 (MGI:2444450)
chr7 5527145 5530708 7p22-p12 7p22.1 102630 ACTB, BRWS1 Actin, beta ACTB 60 ENSG00000075624 ~20 pseudogenes also; mutation identified in twin DJO patients Baraitser-Winter syndrome 1, 243310 (3), Autosomal dominant; ?Dystonia, juvenile-onset, 607371 (3), Autosomal dominant Actb (MGI:87904)
chr7 5592804 5606655 7p22 7p22.1 602689 FSCN1, SNL Fascin homolog 1, actin-bundling protein (singed, Drosophila, homolog-like) FSCN1 6624 ENSG00000075618 Fscn1 (MGI:1352745)
chr7 5620040 5781729 7p22 7p22.1 609948 RNF216, TRIAD3, ZIN, CAHH RING finger protein 216 RNF216 54476 ENSG00000011275 Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3), Autosomal recessive Rnf216 (MGI:1344349)
chr7 5859788 5886362 7p13-p11 7p22.1 164795 OCM Oncomodulin OCM 654231 ENSG00000122543 Ocm (MGI:97401)
chr7 5970924 6009105 7p22 7p22.1 600259 PMS2, PMSL2, HNPCC4 Postmeiotic segregation increased, S. cerevisiae, 2, homolog of PMS2 5395 ENSG00000122512 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3); Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive Pms2 (MGI:104288)
chr7 6009250 6023833 7p22 7p22.1 600859 AIMP2, JTV1 Aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 AIMP2 7965 ENSG00000106305 Aimp2 (MGI:2385237)
chr7 6022246 6059228 7p22.1 7p22.1 613635 EIF2AK1, HRI Eukaryotic translation initiation factor 2-alpha kinase 1 EIF2AK1 27102 ENSG00000086232 Eif2ak1 (MGI:1353448)
chr7 6161778 6272610 7p22.1 7p22.1 605081 CYTH3, PSCD3, ARNO3, GRP1 Cytohesin 3 CYTH3 9265 ENSG00000008256 Cyth3 (MGI:1335107)
chr7 6329408 6348958 7p22.1 7p22.1 616628 FAM220A, SIPAR, ACPIN1, C7orf70 Family with sequence similarity 220, member A FAM220A 84792 ENSG00000178397 Fam220a (MGI:1914488)
chr7 6374494 6403966 7p22.1 7p22.1 602048 RAC1, MRD48 Ras-related C3 botulinum toxin substrate 1 RAC1 5879 ENSG00000136238 Mental retardation, autosomal dominant 48, 617751 (3), Autosomal dominant Rac1 (MGI:97845)
chr7 6409115 6448011 7p22.1 7p22.1 614016 DAGLB Diacylglycerol lipase, beta DAGLB 221955 ENSG00000164535 Daglb (MGI:2442032)
chr7 6688432 6706934 7p22-p21 7p22.1 194536 ZNF12 Zinc finger protein-12 (KOX3) ZNF12 7559 ENSG00000164631 Zfp12 (MGI:99157)
chr7 7182546 7248650 7p14-p13 7p22.1-p21.3 610555 C1GALT1 Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 C1GALT1 56913 ENSG00000106392 C1galt1 (MGI:2151071)
chr7 7200000 16500000 7p21.3-p21.2 616986 LOC105375159 Long intergenic noncoding RNA AC011288.2
chr7 7200000 28800000 7p21-p15 153880 MDDC Macular dystrophy, dominant cystoid CYMD 1541 ?allelic to RP9 Macular dystrophy, dominant cystoid, 153880 (2), Autosomal dominant
chr7 7338541 7542093 7p21.3 7p21.3 609996 COL28A1 Collagen, type XXVIII, alpha-1 polypeptide COL28A1 340267 ENSG00000215018 Col28a1 (MGI:2685312)
chr7 7566874 7609143 7p21.3 7p21.3 615359 MIOS Missing oocyte/meiosis regulator, Drosophila, homolog of MIOS 54468 ENSG00000164654 Mios (MGI:2182066)
chr7 7636562 7718606 7p22 7p21.3 179837 RPA3 Replication protein A3, 14kD RPA3 6119 ENSG00000106399 Rpa3 (MGI:1915490)
chr7 7968742 8089079 7p22 7p21.3 614283 GLCCI1, TSSN1, GCTR Glucocorticoid-induced transcript 1 GLCCI1 113263 ENSG00000106415 {Glucocorticoid therapy, response to}, 614400 (3) Glcci1 (MGI:2179717)
chr7 8113183 8262686 7p22 7p21.3 147625 ICA1 Islet cell autoantigen 1, 69kD ICA1 3382 ENSG00000003147 Ica1 (MGI:96391)
chr7 8433954 8752962 7p21.3 7p21.3 604639 NXPH1, NPH1 Neurexophilin 1 NXPH1 30010 ENSG00000122584 Nxph1 (MGI:107492)
chr7 10931952 10940185 7p21.3 7p21.3 603833 NDUFA4 NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 4 NDUFA4 4697 ENSG00000189043 Ndufa4 (MGI:107686)
chr7 11370434 11832197 7p21.3 7p21.3 612249 THSD7A, KIAA0960 Thrombospondin type-1 domain-containing protein 7A THSD7A 221981 ENSG00000005108 Thsd7a (MGI:2685683)
chr7 12211221 12237263 7p21.3 7p21.3 613413 TMEM106B Transmembrane protein 106B TMEM106B 54664 ENSG00000106460 Tmem106b (MGI:1919150)
chr7 12570362 12653602 7p21.3 7p21.3 613416 SCIN, KIAA1905 Scinderin SCIN 85477 ENSG00000006747 Scin (MGI:1306794)
chr7 12686826 12690933 7q 7p21.3 604786 ARL4 ADP-ribosylation factor-like 4 ARL4A 10124 ENSG00000122644 Arl4a (MGI:99437)
chr7 13700000 34900000 7p21.2-p14.3 613576 EDSS2 Ectodermal dysplasia-syndactyly syndrome 2 100505394 between D7S488 and D7S817 Ectodermal dysplasia-syndactyly syndrome 2, 613576 (2), Autosomal recessive
chr7 13700000 16500000 7p21.2 613462 FGQTL4 Fasting plasma glucose level QTL 4 100499169 associated with rs2191349 [Fasting plasma glucose level QTL 4], 613462 (2)
chr7 13891228 13991424 7p22 7p21.2 600541 ETV1 ETS variant gene-1 ETV1 2115 ENSG00000006468 fused with EWS in some Ewing sarcoma Etv1 (MGI:99254)
chr7 14145048 14974776 7p21.2 7p21.2 604070 DGKB, DGK, KIAA0718 Diacylglycerol kinase, beta, 90kD DGKB 1607 ENSG00000136267 Dgkb (MGI:2442474)
chr7 15117222 15562014 7p21.2 7p21.2 613738 AGMO, TMEM195 Alkylglycerol monooxygenase AGMO 392636 ENSG00000187546 Agmo (MGI:2442495)
chr7 15611211 15686682 7p22.1-p21.3 7p21.2 600535 MEOX2 Mesenchyme homeo box 2 MEOX2 4223 ENSG00000106511 Meox2 (MGI:103219)
chr7 16087526 16502499 7p21.2 7p21.2-p21.1 614631 ISPD, MDDGA7, MDDGC7 Isoprenoid synthase domain-containing protein ISPD 729920 ENSG00000214960 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3), Autosomal recessive Ispd (MGI:1923097)
chr7 16461480 16465848 7p21.2 7p21.2 609675 SOSTDC1, ECTODIN, USAG1 Sclerostin domain-containing protein 1 SOSTDC1 25928 ENSG00000171243 Sostdc1 (MGI:1913292)
chr7 16753725 16784535 7p21.1 7p21.1 613139 TSPAN13, NET6 Tetraspanin 13 TSPAN13 27075 ENSG00000106537 Tspan13 (MGI:1913359)
chr7 16791810 16805113 7p21.3 7p21.1 606358 AGR2, AG2 Anterior gradient 2, Xenopus, homolog of AGR2 10551 ENSG00000106541 Agr2 (MGI:1344405)
chr7 16854710 16881988 7p21.3 7p21.1 609482 AGR3, BCMP11 Anterior gradient 3, Xenopus, homolog of AGR3 155465 ENSG00000173467 Agr3 (MGI:2685734)
chr7 17298651 17346150 7p15 7p21.1 600253 AHR Aryl hydrocarbon receptor AHR 196 ENSG00000106546 Ahr (MGI:105043)
chr7 17790760 17940507 7p21.1 7p21.1 606589 SNX13, KIAA0713 Sorting nexin 13 SNX13 23161 ENSG00000071189 Snx13 (MGI:2661416)
chr7 18026773 18027862 7p21.2 7p21.1 611566 PRPS1L1, PRPS3 Phosphoribosylpyrophosphate synthetase 1-like 1 PRPS1L1 221823 ENSG00000229937 Prps1l1 (MGI:1922706)
chr7 18086941 19002415 7p21-p15 7p21.1 606543 HDAC9, MITR, HDAC7B, KIAA0744 Histone deacetylase 9 HDAC9 9734 ENSG00000048052 Hdac9 (MGI:1931221)
chr7 19113046 19117671 7p21 7p21.1 601622 TWIST1, ACS3, SCS, CRS1, SWCOS TWIST, Drosophila, homolog of, 1 TWIST1 7291 ENSG00000122691 Craniosynostosis 1, 123100 (3), Autosomal dominant; Robinow-Sorauf syndrome, 180750 (3), Autosomal dominant; Saethre-Chotzen syndrome with or without eyelid anomalies, 101400 (3), Autosomal dominant; Sweeney-Cox syndrome, 617746 (3), Autosomal dominant Twist1 (MGI:98872)
chr7 19144781 19145420 7p21.1 7p21.1 617578 FERD3L, NTWIST, NATO3, PTFB Fer3, Drosophila, homolog of FERD3L 222894 ENSG00000146618 Ferd3l (MGI:2150010)
chr7 19695461 19709036 7p21 7p21.1 608312 TWISTNB TWIST neighbor TWISTNB 221830 ENSG00000105849 pseudogene on 6q14.3 Twistnb (MGI:106292)
chr7 20134654 20217389 7p21.1 7p21.1 612646 MACC1 Metastasis-associated gene in colon cancer 1 MACC1 346389 ENSG00000183742 Macc1 (MGI:2685113)
chr7 20615621 20757013 7p15.3 7p21.1 611785 ABCB5 ATP-binding cassette, subfamily B, member 5 ABCB5 340273 ENSG00000004846 Abcb5 (MGI:1924956)
chr7 20782273 20786888 7p21 7p21.1 608306 SP8, BTD Transcription factor Sp8 SP8 221833 ENSG00000164651 Sp8 (MGI:2443471)
chr7 20900000 45400000 7p15-p13 613219 FGQTL2, BWQTL1 Fasting plasma glucose level QTL 2; Birth weight QTL 1 100379216 associated with rs4607517 [Birth weight QTL 1], 613219 (2); [Fasting plasma glucose level QTL 2], 613219 (2)
chr7 20900000 28800000 7p15 164865 MYCLK1 Avian myelocytomatosis viral (v-myc) oncogene homolog like 1
chr7 20900000 28800000 7p15 608367 MYP17, MYP4 Myopia 17 MYP17 100359401 previously assigned to 7q36 (MYP4) Myopia 17, 608367 (2), Autosomal dominant
chr7 20900000 28800000 7p15 612737 STQTL17 Stature quantitative trait locus 17 100301526 associated with rs1635852 and rs849140 {Stature QTL 17}, 612737 (2)
chr7 21428033 21514821 7p15 7p15.3 600540 SP4 Sp4 transcription factor SP4 6671 ENSG00000105866 Sp4 (MGI:107595)
chr7 21543214 21901567 7p21 7p15.3 603339 DNAH11, DNAHC11, CILD7, DNAHBL Dynein, axonemal, heavy chain-11 DNAH11 8701 ENSG00000105877 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3), Autosomal recessive Dnah11 (MGI:1100864)
chr7 21900898 21945923 7p15 7p15.3 609685 CDCA7L, R1, JPO2 Cell division cycle-associated protein 7-like CDCA7L 55536 ENSG00000164649 Cdca7l (MGI:2384982)
chr7 22725888 22732001 7p21 7p15.3 147620 IL6, IFNB2, BSF2, HSF, HGF Interleukin-6 (interferon, beta-2) IL6 3569 ENSG00000136244 {Crohn disease-associated growth failure}, 266600 (3), Multifactorial; {Diabetes, susceptibility to},, 222100 (3), Autosomal recessive; {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3), Autosomal dominant; {Kaposi sarcoma, susceptibility to}, 148000 (3), Autosomal dominant; {Rheumatoid arthritis, systemic juvenile}, 604302 (3) Il6 (MGI:96559)
chr7 22812631 22822851 7p15.3 7p15.3 607980 TOMM7 Translocase of outer mitochondrial membrane 7, yeast, homolog of TOMM7 54543 ENSG00000196683 Tomm7 (MGI:1913419)
chr7 22895847 23014150 7p15.3 7p15.3 610531 FAM126A, DRCTNNB1A, HLD5 Hyccin FAM126A 84668 ENSG00000122591 Leukodystrophy, hypomyelinating, 5, 610532 (3), Autosomal recessive Fam126a (MGI:2149839)
chr7 23105733 23175420 7p15.3 7p15.3 611119 KLHL7, RP42, CISS3 Kelch-like 7 KLHL7 55975 ENSG00000122550 Cold-induced sweating syndrome 3, 617055 (3), Autosomal recessive; Retinitis pigmentosa 42, 612943 (3), Autosomal dominant Klhl7 (MGI:1196453)
chr7 23246696 23275109 7p15.3 7p15.3 604368 GPNMB, PLCA3 Glycoprotein NMB GPNMB 10457 ENSG00000136235 Amyloidosis, primary localized cutaneous, 3, 617920 (3), Autosomal recessive Gpnmb (MGI:1934765)
chr7 23298743 23309572 7p15.3 7p15.3 614624 MALSU1, C7orf30 Mitochondrial assembly of ribosomal large subunit 1 MALSU1 115416 ENSG00000156928 Malsu1 (MGI:1922843)
chr7 23310208 23470673 7p15 7p15.3 608259 IGF2BP3, IMP3, KOC1, VICKZ3 Insulin-like growth factor 2 mRNA-binding protein 3 IGF2BP3 10643 ENSG00000136231 Igf2bp3 (MGI:1890359)
chr7 23504779 23532040 7p15.3 7p15.3 602718 TRA2A Transformer 2, Drosophila, homolog of TRA2A 29896 ENSG00000164548 Tra2a (MGI:1933972)
chr7 23710139 23832514 7p15.3 7p15.3 605790 STK31 Serine/threonine kinase 31 STK31 56164 ENSG00000196335 Stk31 (MGI:1924735)
chr7 24284187 24291864 7p15.1 7p15.3 162640 NPY Neuropeptide Y NPY 4852 ENSG00000122585 Npy (MGI:97374)
chr7 24573345 24694085 7p21-p15 7p15.3 606959 MPP6, VAM1, PALS2 Membrane protein, palmitoylated 6 MPP6 51678 ENSG00000105926 Mpp6 (MGI:1927340)
chr7 24698354 24762234 7p15 7p15.3 608798 GSDME, DFNA5 Gasdermin E GSDME 1687 ENSG00000105928 Deafness, autosomal dominant 5, 600994 (3), Autosomal dominant Gsdme (MGI:1889850)
chr7 24796536 24980217 7p15 7p15.3 606732 OSBPL3, ORP3, KIAA0704 Oxysterol-binding protein-like protein 3 OSBPL3 26031 ENSG00000070882 Osbpl3 (MGI:1918970)
chr7 25118650 25125360 7p15.2 7p15.3 123970 CYCS, CYC, THC4 Cytochrome C, somatic CYCS 54205 ENSG00000172115 Thrombocytopenia 4, 612004 (3), Autosomal dominant Cycs (MGI:88578)
chr7 25134696 25180741 7p15.3 7p15.3 616071 C7orf31 Chromosome 7 open reading frame 31 C7orf31 136895 ENSG00000153790 4921507P07Rik (MGI:1918071)
chr7 25224569 25228485 7p15.3 7p15.3 616984 NPVF, RFRP, C7orf9 Neuropeptide VF precursor NPVF 64111 ENSG00000105954 Npvf (MGI:1926488)
chr7 25949918 25949985 7p15.2 7p15.2 613786 MIR148A, MIRN148A Micro RNA 148A MIR148A 406940
chr7 26152226 26187136 7p15-p14 7p15.2 604135 NFE2L3, NRF3 Nuclear factor erythroid 2-like 3 NFE2L3 9603 ENSG00000050344 Nfe2l3 (MGI:1339958)
chr7 26189919 26200792 7p15 7p15.2 600124 HNRPA2B1, IBMPFD2 Heterogeneous nuclear ribonucleoprotein A2/B1 HNRNPA2B1 3181 ENSG00000122566 mutation identified in 1 family ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, 615422 (3) Hnrnpa2b1 (MGI:104819)
chr7 26201210 26213606 7p15.2 7p15.2 604477 CBX3 Chromobox homolog 3 CBX3 11335 ENSG00000122565 Cbx3 (MGI:108515)
chr7 26291894 26374329 7p15.2 7p15.2 614780 SNX10, OPTB8 Sorting nexin 10 SNX10 29887 ENSG00000086300 Osteopetrosis, autosomal recessive 8, 615085 (3), Autosomal recessive Snx10 (MGI:1919232)
chr7 26654771 26864742 7p15.2 7p15.2 605215 SKAP2, SCAP2, SKAP55R src kinase associated phosphoprotein 2 SKAP2 8935 ENSG00000005020 Skap2 (MGI:1889206)
chr7 27092992 27096005 7p15.3 7p15.2 142955 HOXA1, HOX1F, BSAS Homeo box-A1 HOXA1 3198 ENSG00000105991 Athabaskan brainstem dysgenesis syndrome, 601536 (3); Bosley-Salih-Alorainy syndrome, 601536 (3) Hoxa1 (MGI:96170)
chr7 27100353 27102774 7p15-p14 7p15.2 604685 HOXA2, MCOHI Homeobox A2 HOXA2 3199 ENSG00000105996 ?Microtia with or without hearing impairment (AD), 612290 (3), Autosomal recessive, Autosomal dominant; ?Microtia, hearing impairment, and cleft palate (AR), 612290 (3), Autosomal recessive, Autosomal dominant Hoxa2 (MGI:96174)
chr7 27106189 27153237 7p15-p14.2 7p15.2 142954 HOXA3, HOX1E Homeo box-A3 HOXA3 3200 ENSG00000105997 homolog of Drosophila zen1, zen2 Hoxa3 (MGI:96175)
chr7 27121918 27128759 7p15.2 7p15.2 616068 HOXAAS2 HOXA cluster antisense RNA 2 HOXA-AS2 285943
chr7 27128506 27130779 7p15-p14.2 7p15.2 142953 HOXA4, HOX1D Homeo box-A4 HOXA4 3201 ENSG00000197576 homolog of Drosophila Dfd Hoxa4 (MGI:96176)
chr7 27141051 27143667 7p15-p14.2 7p15.2 142952 HOXA5, HOX1C Homeo box-A5 HOXA5 3202 ENSG00000106004 Hoxa5 (MGI:96177)
chr7 27145582 27147773 7p15-p14.2 7p15.2 142951 HOXA6, HOX1B Homeo box-A6 HOXA6 3203 ENSG00000106006 Hoxa6 (MGI:96178)
chr7 27153715 27156676 7p15-p14.2 7p15.2 142950 HOXA7, HOX1A Homeo box-A7 HOXA7 3204 ENSG00000122592 homolog of Drosophila Antp Hoxa7 (MGI:96179)
chr7 27162437 27165529 7p15-p14.2 7p15.2 142956 HOXA9, HOX1G Homeo box-A9 HOXA9 3205 ENSG00000078399 homolog of Drosophila Abd-B; fused to NUP98 in myeloid leukemia Hoxa9 (MGI:96180)
chr7 27169479 27169562 7p15-p14.2 7p15.2 609688 MIR196B, MIRN196B Micro RNA 196B MIR196B 442920
chr7 27170590 27180260 7p15-p14.2 7p15.2 142957 HOXA10, HOX1H Homeo box-A10 HOXA10 3206 ENSG00000253293 Hoxa10 (MGI:96171)
chr7 27181156 27185215 7p15-p14.2 7p15.2 142958 HOXA11, HOX1I, RUSAT1 Homeo box-A11 HOXA11 3207 ENSG00000005073 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 (3), Autosomal dominant Hoxa11 (MGI:96172)
chr7 27185407 27189292 7p15.2 7p15.2 607530 HOXA11AS Homeo box A11, antisense HOXA11-AS 221883
chr7 27196879 27200105 7p15-p14.2 7p15.2 142959 HOXA13, HOX1J Homeo box-A13 HOXA13 3209 ENSG00000106031 Guttmacher syndrome, 176305 (3), Autosomal dominant; Hand-foot-uterus syndrome, 140000 (3), Autosomal dominant Hoxa13 (MGI:96173)
chr7 27200420 27207258 7p15.2 7p15.2 614060 HOTTIP, NCRNA00213 HOXA distal transcript antisense RNA HOTTIP 100316868
chr7 27242544 27247818 7p15-p14 7p15.2 142996 EVX1 Even-skipped homeo box-1 (homolog of Drosophila) EVX1 2128 ENSG00000106038 at 5' end of HOX1 cluster Evx1 (MGI:95461)
chr7 27525439 27663000 7p15.2 7p15.2 608475 HIBADH 3-hydroxyisobutyrate dehydrogenase HIBADH 11112 ENSG00000106049 Hibadh (MGI:1889802)
chr7 27739372 27829766 7p15 7p15.2 605326 TAX1BP1, TXBP151 TAX1-binding protein 1 TAX1BP1 8887 ENSG00000106052 Tax1bp1 (MGI:1289308)
chr7 27830572 28180817 7p15 7p15.2-p15.1 606246 JAZF1, TIP27 JAZF1 gene JAZF1 221895 ENSG00000153814 fused with JJAZ1 Jazf1 (MGI:2141450)
chr7 28800000 43300000 7p14 610655 HHT4 Telangiectasia, hereditary hemorrhagic, type 4 791087 between D7S2252 and D7S510 Telangiectasia, hereditary hemorrhagic, type 4, 610655 (2), Autosomal dominant
chr7 28953357 28958412 7p14.3 7p14.3 613356 TRIL, KIAA0644 TLR4 interactor with leucine-rich repeats TRIL 9865 ENSG00000255690 Tril (MGI:1914123)
chr7 28995230 29195450 7p15-p14 7p14.3 609780 CPVL, HVLP Carboxypeptidase, vitellogenic-like CPVL 54504 ENSG00000106066 Cpvl (MGI:1918537)
chr7 29146546 29514334 7p15.3 7p14.3 602857 CHN2, ARHGAP3, RHOGAP3 Chimerin 2 (GTPase-activating protein, rho, 3) CHN2 1124 ENSG00000106069 Chn2 (MGI:1917243)
chr7 29806553 29917065 7p15.1 7p14.3 612432 WIPF3, CR16 WAS/WASL-interacting protein family, member 3 WIPF3 644150 ENSG00000122574 Wipf3 (MGI:3044681)
chr7 29920102 29990288 7p14.3-p14.1 7p14.3 614965 SCRN1, SES1, KIAA0193 Secernin 1 SCRN1 9805 ENSG00000136193 Scrn1 (MGI:1917188)
chr7 30010582 30026800 7p15.1 7p14.3 614505 FKBP14, EDSKSCL2 FK506-binding protein 14 FKBP14 55033 ENSG00000106080 Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 (3), Autosomal recessive Fkbp14 (MGI:2387639)
chr7 30028360 30130482 7p21-p11.2 7p14.3 608639 FAPP2 Phosphatidylinositol 4-phosphate adaptor protein 2 PLEKHA8 84725 ENSG00000106086 Plekha8 (MGI:2681164)
chr7 30284306 30367691 7p15.1 7p14.3 612061 ZNRF2 Zinc finger and ring finger protein 2 ZNRF2 223082 ENSG00000180233 Znrf2 (MGI:1196246)
chr7 30424526 30478865 7p15-p14 7p14.3 605980 NOD1, CARD4 Nucleotide-binding oligomerization domain protein 1 NOD1 10392 ENSG00000106100 Nod1 (MGI:1341839)
chr7 30496620 30504840 7p15-p14 7p14.3 137170 GGCT, GCTG, C7orf24 Gamma-glutamylcyclotransferase GGCT 79017 ENSG00000006625 Ggct (MGI:95700)
chr7 30594734 30634032 7p15 7p14.3 600287 GARS, SMAD1, CMT2D, HMN5 Glycyl-tRNA synthetase GARS 2617 ENSG00000106105 Charcot-Marie-Tooth disease, type 2D, 601472 (3), Autosomal dominant; Neuropathy, distal hereditary motor, type VA, 600794 (3), Autosomal dominant Gars (MGI:2449057)
chr7 30649405 30700102 7p21-p15 7p14.3 602034 CRHR2, CRFR2 Corticotropin releasing hormone receptor-2 CRHR2 1395 ENSG00000106113 Crhr2 (MGI:894312)
chr7 30752134 30757601 7p15.3-p15.2 7p14.3 604854 INMT Indolethylamine N-methyltransferase INMT 11185 ENSG00000241644 Inmt (MGI:102963)
chr7 30911693 30925516 7p14 7p14.3 107776 AQP1, CHIP28, CO Aquaporin-1 (channel-forming integral protein, 28kD) AQP1 358 ENSG00000240583 [Aquaporin-1 deficiency], 110450 (3); [Blood group, Colton], 110450 (3) Aqp1 (MGI:103201)
chr7 30964020 30979530 7p15-p14 7p14.3 139191 GHRHR, GHRFR, IGHD1B Growth hormone releasing hormone receptor GHRHR 2692 ENSG00000106128 Growth hormone deficiency, isolated, type IB, 612781 (3) Ghrhr (MGI:95710)
chr7 31052340 31111478 7p14 7p14.3 102981 ADCYAP1R1, PACAPR Adenylate cyclase activating polypeptide-1 (pituitary) receptor type 1 ADCYAP1R1 117 ENSG00000078549 Adcyap1r1 (MGI:108449)
chr7 31337460 31340923 7p15-p14 7p14.3 611513 NEUROD6, ATOH2, MATH2 Neurogenic differentiation 6 NEUROD6 63974 ENSG00000164600 Neurod6 (MGI:106593)
chr7 31616776 32428223 7p14.3 7p14.3 602987 PDE1C, HCAM3 Phosphodiesterase 1C PDE1C 5137 ENSG00000154678 Pde1c (MGI:108413)
chr7 31687016 31710157 7p15 7p14.3 604088 GSBS G-substrate PPP1R17 10842 ENSG00000106341 {Hypercholesterolemia, susceptibility to}, 143890 (3), Autosomal dominant Ppp1r17 (MGI:1333876)
chr7 32485332 32495257 7p14.3 7p14.3 607285 LSM5 LSM5 protein LSM5 23658 ENSG00000106355 Lsm5 (MGI:1913623)
chr7 32495425 32588740 7p14.3 7p14.3 612927 AVL9, KIAA0241 AVL9, S. cerevisiae, homolog of AVL9 23080 ENSG00000105778 Avl9 (MGI:1926187)
chr7 32957403 33006930 7p12 7p14.3 616257 FKBP9, FKBP60, FKBP63 FK506-binding protein 9 FKBP9 11328 ENSG00000122642 Fkbp9 (MGI:1350921)
chr7 33014112 33062820 7p15-p14 7p14.3 606224 NT5C3A, NT5C3, UMPH1, PSN1 5' nucleotidase, cytosolic IIIA (uridine 5' monophosphate hydrolase 1) NT5C3A 51251 ENSG00000122643 pseudogenes on chr.4 and chr.7 Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3), Autosomal recessive Nt5c3 (MGI:1927186)
chr7 33094796 33109389 7p14.2 7p14.3 607331 RP9, PAP1 RP9 gene (pim1-associated protein, mouse, homolog of) RP9 6100 ENSG00000164610 mutation identified in 1 patient ?Retinitis pigmentosa 9, 180104 (3), Autosomal dominant Rp9 (MGI:2157166)
chr7 33129243 33637237 7p14 7p14.3 607968 PTHB1, BBS9 Parathyroid hormone-responsive B1 gene BBS9 27241 ENSG00000122507 Bardet-Biedl syndrome 9, 615986 (3), Autosomal recessive Bbs9 (MGI:2442833)
chr7 33904910 34155871 7p14.3 7p14.3 608699 BMPER, CV2 BMP binding endothelial regulator BMPER 168667 ENSG00000164619 Diaphanospondylodysostosis, 608022 (3), Autosomal recessive Bmper (MGI:1920480)
chr7 34346511 34834330 7p15-p14 7p14.3 608596 AAA1 Asthma-associated alternatively spliced gene 1 NPSR1-AS1 404744
chr7 34658238 34878331 7p15-p14 7p14.3 608595 NPSR1, GPR154, GPRA, VRR1, PGR14, ASRT2 Neuropeptide S receptor 1 NPSR1 387129 ENSG00000187258 {Asthma, susceptibility to, 2}, 608584 (3) Npsr1 (MGI:2441738)
chr7 34928880 35038040 7p14.3 7p14.2 613892 DPY19L1, KIAA0877 DPY19-like 1 DPY19L1 23333 ENSG00000173852 Dpy19l1 (MGI:1915685)
chr7 35199935 35254099 7p15-p14 7p14.2 606061 TBX20, ASD4 T-box 20 TBX20 57057 ENSG00000164532 Atrial septal defect 4, 611363 (3) Tbx20 (MGI:1888496)
chr7 35800985 35915762 7p14 7p14.2 603151 SEPT7, CDC10 Septin 7 SEPT7 989 ENSG00000122545 Sept7 (MGI:1335094)
chr7 36153226 36301542 7p14.2 7p14.2 617192 EEPD1, KIAA1706 Endonuclease/exonuclease/phosphatase family domain-containing protein 1 EEPD1 80820 ENSG00000122547 Eepd1 (MGI:1914734)
chr7 36389802 36453790 7p14.2 7p14.2 616027 ANLN, FSFS8 Actin-binding protein anillin ANLN 54443 ENSG00000011426 Focal segmental glomerulosclerosis 8, 616032 (3), Autosomal dominant Anln (MGI:1920174)
chr7 36509312 36724548 7p14-p12 7p14.2 102593 AOAH Acyloxyacyl hydrolase (neutrophil) AOAH 313 ENSG00000136250 Aoah (MGI:1350928)
chr7 36852905 37449325 7p14 7p14.2-p14.1 606420 ELMO1, CED12 Engulfment and cell motility gene 1 ELMO1 9844 ENSG00000155849 Elmo1 (MGI:2153044)
chr7 37100000 43300000 7p14.1 615455 TRGJ@ T-cell receptor gamma chain joining gene cluster
chr7 37100000 43300000 7p14.1 615454 TRGV@ T-cell receptor gamma chain variable gene cluster
chr7 37683559 37743834 7p14.1 7p14.1 609045 GPR141, PGR13 G protein -coupled receptor 141 GPR141 353345 ENSG00000187037 Gpr141 (MGI:2672983)
chr7 37848596 37900400 7p14.1 7p14.1 607421 NME8, TXNDC3, SPTRX2, CILD6 NME/NM23 family member 8 NME8 51314 ENSG00000086288 Ciliary dyskinesia, primary, 6, 610852 (3), Autosomal recessive Nme8 (MGI:1920662)
chr7 37905931 37916922 7p14.1 7p14.1 606570 SFRP4, FRPHE, PYL Secreted frizzled-related protein 4 SFRP4 6424 ENSG00000106483 Pyle disease, 265900 (3), Autosomal recessive Sfrp4 (MGI:892010)
chr7 38178205 38230670 7p14-p13 7p14.1 611759 STARD3NL, MENTHO STARD3 N-terminal like STARD3NL 83930 ENSG00000010270 Stard3nl (MGI:1923455)
chr7 38239576 38276740 7p15-p14 7p14.1 609642 TARP T-cell antigen receptor, gamma subunit, alternate reading frame protein 445347 ENSG00000211689
chr7 38240023 38249571 7p14.1 7p14.1 615450 TRGC2 T-cell receptor gamma chain constant region 2 TRGC2 6967
chr7 38260087 38265677 7p14.1 7p14.1 186970 TRGC1 T-cell receptor gamma chain constant region 1 TRGC1 6966
chr7 38383693 38631566 7p14-p13 7p14.1 600418 AMPH Amphiphysin AMPH 273 ENSG00000078053 Amph (MGI:103574)
chr7 38722974 38909199 7p14.1 7p14.1 605485 VPS41 Vacuolar protein sorting 41, Yeast, homolog of VPS41 27072 ENSG00000006715 Vps41 (MGI:1929215)
chr7 38977877 39468600 7p14-p13 7p14.1 609062 POU6F2, WTSL, WT5 POU domain, class 6, transcription factor 2 POU6F2 11281 ENSG00000106536 {Wilms tumor susceptibility-5}, 601583 (3), Autosomal dominant, Somatic mutation
chr7 39622954 39708123 7p22-p15 7p14.1 179550 RALA RAS-like protein A (Simian leukemia viral (v-ral) oncogene homolog A, ras-related) RALA 5898 ENSG00000006451 Rala (MGI:1927243)
chr7 39949663 40097133 7p14.1 7p14.1 603309 CDK13, CDC2L5, CHED, CHDFIDD Cyclin-dependent kinase 13 CDK13 8621 ENSG00000065883 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3), Autosomal dominant Cdk13 (MGI:1916812)
chr7 40132742 40134651 7p14 7p14.1 609188 MPLKIP, C7orf11, ABHS, TTDN1, TTD4 M-phase specific PLK1 interacting protein MPLKIP 136647 ENSG00000168303 Trichothiodystrophy 4, nonphotosensitive, 234050 (3), Autosomal recessive Mplkip (MGI:1913558)
chr7 40134886 40860766 7p14 7p14.1 609187 C7orf10, GA3 Chromosome 7 open reading frame 10 SUGCT 79783 ENSG00000175600 Glutaric aciduria III, 231690 (3), Autosomal recessive Sugct (MGI:1923221)
chr7 41685100 41710531 7p15-p13 7p14.1 147290 INHBA Inhibin, beta-1 INHBA 3624 ENSG00000122641 Inhba (MGI:96570)
chr7 41960948 42237018 7p13 7p14.1 165240 GLI3, PAPA, PAPB GLI-Kruppel family member GLI3 (oncogene GLI3) GLI3 2737 ENSG00000106571 amplified in glioblastoma Greig cephalopolysyndactyly syndrome, 175700 (3), Autosomal dominant; {Hypothalamic hamartomas, somatic}, 241800 (3); Pallister-Hall syndrome, 146510 (3), Autosomal dominant; Polydactyly, postaxial, types A1 and B, 174200 (3), Autosomal dominant; Polydactyly, preaxial, type IV, 174700 (3), Autosomal dominant Gli3 (MGI:95729)
chr7 42916860 42932205 7p13 7p14.1 176842 PSMA2, PSC2, HC3 Proteasome (prosome, macropain) subunit, alpha type, 2 PSMA2 5683 ENSG00000106588 incorrectly assigned to 6q Psma2 (MGI:104885)
chr7 42932339 42937856 7p14 7p14.1 611839 MRPL32 Mitochondrial ribosomal protein L32 MRPL32 64983 ENSG00000106591 Mrpl32 (MGI:2137226)
chr7 43112579 43566000 7p13 7p14-p13 610384 HECW1, NEDL1, KIAA0322 HECT, C2, and WW domains-containing E3 ubiquitin-protein ligase 1 HECW1 23072 ENSG00000002746 Hecw1 (MGI:2444115)
chr7 43583092 43627378 7p13 7p13 604726 STK17A, DRAK1 Serine/threonine protein kinase 17A STK17A 9263 ENSG00000164543
chr7 43608451 43729540 7p13 7p13 614769 COA1, C7orf44 Cytochrome c oxidase assembly factor 1, S. cerevisiae, homolog of COA1 55744 ENSG00000106603
chr7 43758121 43807341 7p13 7p13 109750 BLVRA Biliverdin reductase A BLVRA 644 ENSG00000106605 Hyperbiliverdinemia, 614156 (3), Autosomal recessive, Autosomal dominant Blvra (MGI:88170)
chr7 43866557 43869545 7p14 7p13 611986 MRPS24 Mitochondrial ribosomal protein S24 MRPS24 64951 ENSG00000062582 Mrps24 (MGI:1928142)
chr7 43875893 43926410 7p13 7p13 610337 URGCP, URG4 Upregulator of cell proliferation URGCP 55665 ENSG00000106608 Urgcp (MGI:1919296)
chr7 43997854 44011039 7p13 7p13 617623 SPDYE1, SPDYB2L2, RINGO1 SPEEDY/RINGO cell cycle regulator family, member E1 SPDYE1 285955 ENSG00000136206
chr7 44044639 44061912 7p13 7p13 610106 DBNL, HIP55 Drebrin-like DBNL 28988 ENSG00000136279 Dbnl (MGI:700006)
chr7 44062726 44065586 7p13-p12.3 7p13 612931 PGAM2, PGAMM, GSD10 Phosphoglycerate mutase, muscle form PGAM2 5224 ENSG00000164708 Glycogen storage disease X, 261670 (3), Autosomal recessive Pgam2 (MGI:1933118)
chr7 44072061 44082539 7p13 7p13 606344 POLM Polymerase, DNA, mu POLM 27434 ENSG00000122678 Polm (MGI:1860191)
chr7 44114679 44123667 7p13 7p13 600815 POLD2 Polymerase (DNA directed), delta 2, regulatory subunit, 50kD POLD2 5425 ENSG00000106628 Pold2 (MGI:1097163)
chr7 44138863 44141391 7p13 7p13 613993 MYL7, MYL2A, MLC2A, MYLC2A Myosin, light chain 7, regulatory MYL7 58498 ENSG00000106631 Myl7 (MGI:107495)
chr7 44143212 44189438 7p15-p13 7p13 138079 GCK, HHF3 Glucokinase (hexokinase-4) GCK 2645 ENSG00000106633 proximal to TCRB Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal, 606176 (3), Autosomal recessive, Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3), Autosomal dominant; MODY, type II, 125851 (3), Autosomal dominant Gck (MGI:1270854)
chr7 44217149 44326166 7p14 7p13 607707 CAMK2B, MRD54 Calcium/calmodulin-dependent protein kinase II-beta CAMK2B 816 ENSG00000058404 Mental retardation, autosomal dominant 54, 617799 (3), Autosomal dominant Camk2b (MGI:88257)
chr7 44382365 44490874 7p13 7p13 610296 NUDCD3, KIAA1068, NUDCL NUDC domain-containing protein 3 NUDCD3 23386 ENSG00000015676 Nudcd3 (MGI:2144158)
chr7 44512439 44541650 7p13 7p13 608010 NPC1L1 NPC1-like 1 NPC1L1 29881 ENSG00000015520 [Ezetimibe, nonresponse to] (3) Npc1l1 (MGI:2685089)
chr7 44565416 44574537 7p13 7p13 608023 DDX56, NOH61 DEAD/H box 56 DDX56 54606 ENSG00000136271 Ddx56 (MGI:1277172)
chr7 44577893 44582294 7p22.2 7p13 612038 TMED4 Transmembrane p24 trafficking protein 4 TMED4 222068 ENSG00000158604 Tmed4 (MGI:1915070)
chr7 44606521 44709069 7p14-p13 7p13 613022 OGDH Oxoglutarate dehydrogenase, lipoamide (alpha-ketoglutarate dehydrogenase) OGDH 4967 ENSG00000105953 Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1), Autosomal recessive Ogdh (MGI:1098267)
chr7 44748546 44769880 7p13 7p13 611196 ZMIZ2, KIAA1886, ZIMP7 Zinc finger MIZ-domain containing 2 ZMIZ2 83637 ENSG00000122515 Zmiz2 (MGI:106374)
chr7 44795959 44803122 7p13 7p13 123840 PPIA Peptidylprolyl isomerase A (cyclophilin A) PPIA 5478 ENSG00000196262 Ppia (MGI:97749)
chr7 44876292 44885384 7p13 7p13 608887 PURB Purine-rich element-binding protein B PURB 5814 ENSG00000146676 Purb (MGI:1338779)
chr7 44962660 44979104 7p13 7p13 600642 MYO1G, HA2, HLA-HA2 Myosin IG MYO1G 64005 ENSG00000136286 Myo1g (MGI:1927091)
chr7 44999745 45076469 7p13 7p13 607929 C7orf22, CCM2, MGC4067 Malcavernin CCM2 83605 ENSG00000136280 Cerebral cavernous malformations-2, 603284 (3), Autosomal dominant Ccm2 (MGI:2384924)
chr7 45100099 45111746 7p13 7p13 611325 TBRG4, KIAA0948, CPR2 Transforming growth factor-beta regulator 4 TBRG4 9238 ENSG00000136270 Tbrg4 (MGI:1100868)
chr7 45104905 45105041 7p13 7p13 611335 SNORA5C Small nucleolar RNA, H/ACA box, 5C SNORA5C 677796 in intron 3 of TBRG4
chr7 45157767 45184249 7p13-p12 7p13 605155 RAMP3 Receptor activity-modifying protein 3 RAMP3 10268 ENSG00000122679 Ramp3 (MGI:1860292)
chr7 45400000 60100000 7p12-cen 147830 TTIM1 T-cell tumor invasion and metastasis-1 (invasion-metastasis of neoplasms, chromosome 7 determined)
chr7 45574139 45723115 7p13-p12 7p12.3 103072 ADCY1, DFNB44 Adenylate cyclase-1, brain ADCY1 107 ENSG00000164742 mutation identified in 1 DFNB44 family ?Deafness, autosomal recessive 44, 610154 (3), Autosomal recessive Adcy1 (MGI:99677)
chr7 45723786 45769017 7p13 7p12.3 611563 SEPT13 Septin 13 SEPT7P2 641977
chr7 45888418 45893667 7p14-p12 7p12.3 146730 IGFBP1 Insulin-like growth factor-binding protein-1 IGFBP1 3484 ENSG00000146678 Igfbp1 (MGI:96436)
chr7 45912244 45921271 7p14-p12 7p12.3 146732 IGFBP3 Insulin-like growth factor-binding protein-3 IGFBP3 3486 ENSG00000146674 tail-to-tail 20kb from IGFBP1 Igfbp3 (MGI:96438)
chr7 47275153 47582552 7p12.3 7p12.3 606825 TNS3, TEM6 Tensin 3 TNS3 64759 ENSG00000136205 Tns3 (MGI:2443012)
chr7 47774602 47958912 7p13-p12 7p12.3 609721 PKD1L1, HTX8 Polycystin 1L1 PKD1L1 168507 ENSG00000158683 Heterotaxy, visceral, 8, autosomal, 617205 (3), Autosomal recessive Pkd1l1 (MGI:2156538)
chr7 47962979 47979624 7p13-p12 7p12.3 603760 HUS1 Hydroxyurea-sensitive 1, S. pombe, homolog of HUS1 3364 ENSG00000136273 Hus1 (MGI:1277962)
chr7 48088307 48108745 7p12.3 7p12.3 191730 UPP1, UP Uridine phosphorylase 1 UPP1 7378 ENSG00000183696 Upp1 (MGI:1097668)
chr7 48171423 48647496 7p12.3 7p12.3 607807 ABCA13 ATP-binding cassette, subfamily A, member 13 ABCA13 154664 ENSG00000179869 Abca13 (MGI:2388707)
chr7 49000000 50500000 7p12.2 613067 ALL2 Leukemia, acute lymphoblastic, susceptibility to, 2 100310786 associated with rs11978267 {Leukemia, acute lymphoblastic, susceptibility to, 2}, 613067 (2)
chr7 49773660 49923776 7p12.2 7p12.2 611108 VWC2, BRORIN von Willebrand factor C domain-containing protein 2 VWC2 375567 ENSG00000188730 Vwc2 (MGI:2442987)
chr7 49846354 50093263 7p12.2 7p12.2 608498 ZPBP, SP38 Zona pellucida-binding protein ZPBP 11055 ENSG00000042813 Zpbp (MGI:1855701)
chr7 50303452 50405100 7p12 7p12.2 603023 IKZF1, ZNFN1A1, IK1, LYF1, CVID13 Ikaros family zinc finger 1 IKZF1 10320 ENSG00000185811 fused with BCL6 in DLBL Immunodeficiency, common variable, 13, 616873 (3), Autosomal dominant Ikzf1 (MGI:1342540)
chr7 50437319 50450405 7p12.1 7p12.2 615383 FIGNL1 Fidgetin-like protein 1 FIGNL1 63979 ENSG00000132436 Fignl1 (MGI:1890648)
chr7 50458435 50565459 7p11 7p12.2-p12.1 107930 DDC DOPA decarboxylase (aromatic L-amino acid decarboxylase) DDC 1644 ENSG00000132437 Aromatic L-amino acid decarboxylase deficiency, 608643 (3), Autosomal recessive Ddc (MGI:94876)
chr7 50500000 98400000 7p12.1-q21 614676 CMH21 Cardiomyopathy, familial hypertrophic, 21 100909387 max lod at D7S669 Cardiomyopathy, hypertrophic, 21, 614676 (2), Autosomal dominant
chr7 50590062 50793461 7p12-p11.2 7p12.1 601523 GRB10, RSS Growth factor receptor-bound protein-10 GRB10 2887 ENSG00000106070 Grb10 (MGI:103232)
chr7 51016211 51316860 7p12 7p12.1 610317 COBL, KIAA0633 Cordon-bleu, mouse, homolog of COBL 23242 ENSG00000106078 Cobl (MGI:105056)
chr7 53900000 98400000 7p11-q21 608658 HPC4 Prostate cancer, hereditary, 4 408260 {Prostate cancer, susceptibility to, 4}, 176807 (2), Autosomal dominant
chr7 53900000 58100000 7p11.2 608345 NYS3 Nystagmus 3, congenital, autosomal dominant NYS3 4934 translocation t(7;15)(p11.2;q11.2) Nystagmus 3, congenital, autosomal dominant, 608345 (2), Autosomal dominant
chr7 53900000 58100000 7p11.2 180860 SRS, RSS Silver-Russell syndrome maternal uniparental disomy of chromosome 7 Silver-Russell syndrome, 180860 (4), Isolated cases
chr7 54201223 54202420 7p14-p13 7p11.2 600762 HPVC1, PE5L Human papillomavirus E5 central sequence-like 1 HPVC1 3262
chr7 54752246 54759245 7p11.2 7p11.2 609215 SEC61G Sec61 complex, gamma subunit SEC61G 23480 ENSG00000132432 Gm16261,Sec61g,Gm11575,Gm12881,Gm4184 (MGI:3782360,MGI:3649592,MGI:3651892,MGI:3826544,MGI:1202066)
chr7 55019020 55208079 7p12.3-p12.1 7p11.2 131550 EGFR, NISBD2 Epidermal growth factor receptor EGFR 1956 ENSG00000146648 same as oncogene ERBB; mutation identified in 1 NISBD2 family Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3), Autosomal recessive; ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3), Autosomal recessive; Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3), Autosomal recessive; {Nonsmall cell lung cancer, susceptibility to}, 211980 (3), Autosomal recessive Egfr (MGI:95294)
chr7 55365447 55433741 7p11.2 7p11.2 612919 LANCL2, TASP LanC-like 2 LANCL2 55915 ENSG00000132434 Lancl2 (MGI:1919085)
chr7 55434405 55572519 7p11.2 7p11.2 611915 VOPP1, ECOP, GASP Vesicular, overexpressed in cancer, prosurvival protein 1 VOPP1 81552 ENSG00000154978 Vopp1 (MGI:2141658)
chr7 55764796 55773695 7q11.2 7p11.2 604239 PSPHP1, PSPHL, CO9 Phosphoserine phosphatase-like (pseudogene) PSPHP1 8781
chr7 55793543 55862788 7p11.2 7p11.2 612140 SEPT14 Septin 14 SEPT14 346288 ENSG00000154997 Sept14 (MGI:1921472)
chr7 55887276 55942224 7p11.2 7p11.2 616181 ZNF713 Zinc finger protein 713 ZNF713 349075 ENSG00000178665
chr7 55951917 55955340 7p11-q11.21 7p11.2 611980 MRPS17 Mitochondrial ribosomal protein S17 MRPS17 51373 ENSG00000239789 9 pseudogenes Mrps17 (MGI:1913508)
chr7 55964576 56000181 7p12 7p11.2 603004 GBAS, NIPSNAP2 Glioblastoma amplified sequence NIPSNAP2 2631 ENSG00000146729 Nipsnap2 (MGI:1278343)
chr7 56010486 56051603 7p11.2 7p11.2 172480 PSPH, PSP, PSPHD Phosphoserine phosphatase PSPH 5723 ENSG00000146733 Phosphoserine phosphatase deficiency, 614023 (3), Autosomal recessive Psph (MGI:97788)
chr7 56051684 56063988 7p11.2 7p11.2 104613 CCT6A, CCT6, HTR3, TCP20 Chaperonin containing T-complex polypeptide 1, subunit 6A CCT6A 908 ENSG00000146731 Cct6a (MGI:107943)
chr7 56064006 56080671 7p11.2 7p11.2 607940 SUMF2 Sulfatase-modifying factor 2 SUMF2 25870 ENSG00000129103 Sumf2 (MGI:1915152)
chr7 56079926 56093449 7p12-q21 7p11.2 172470 PHKG1 Phosphorylase kinase, gamma 1, muscle PHKG1 5260 ENSG00000164776 presumed pseudogene on 11 Phkg1 (MGI:97579)
chr7 56101561 56106629 7p11.2 7p11.2 616244 CHCHD2, PARK22 Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 CHCHD2 51142 ENSG00000106153 Parkinson disease 22, autosomal dominant, 616710 (3), Autosomal dominant Chchd2,Chchd2-ps (MGI:1261428,MGI:3649942)
chr7 57119573 57139898 7p11.2 7p11.2 617444 ZNF479, KR19 Zinc finger protein 479 ZNF479 90827 ENSG00000185177
chr7 60100000 159345973 7q 145290 HRX Hyperreflexia 7974 linked to KEL
chr7 60100000 159345973 7q 252270 MLSM7, DEL7q, C7DELq Monosomy 7 of bone marrow Myelodysplasia and leukemia syndrome with monosomy 7, 252270 (4), Autosomal recessive
chr7 62100000 77900000 7q11.2 105800 ANIB1 Aneurysm, intracranial berry, 1 ANIB1 116833 in or near ELN Aneurysm, intracranial berry, 1, 105800 (2), Autosomal dominant
chr7 62100000 98400000 7q11.2-q21.3 129900 EEC1 Ectrodactyly, ectodermal dysplasia, cleft lip/palate, 1 EEC1 1913 ?EEC syndrome-1, 129900 (2), Autosomal dominant
chr7 62100000 77900000 7q11.2 610247 EOE1, EE Esophagitis, eosinophilic, 1 100302511 associated with rs2302009 {Esophagitis, eosinophilic, 1}, 610247 (2), Multifactorial
chr7 64665009 64711581 7q11.2 7q11.21 603989 ZNF107 Zinc finger protein-107 ZNF107 51427 ENSG00000196247
chr7 64794387 64853799 7q11.21-q11.23 7q11.21 604080 ZNF138 Zinc finger protein-138 ZNF138 7697 ENSG00000197008
chr7 64882492 64932238 7q11.21 7q11.21 604756 ZNF273, HZF9 Zinc finger protein 273 ZNF273 10793 ENSG00000198039
chr7 64974451 64991035 7q11.2 7q11.21 194624 ZNF117 Zinc finger protein-117 ZNF117 51351 ENSG00000152926
chr7 64990354 65006745 7q11.2 7q11.21 131170 ERV3 Endogenous retroviral sequence-3 (includes zinc finger protein H-plk) ERV3-1 2086 ENSG00000213462
chr7 65373798 65401134 7q11.21 7q11.21 603974 ZNF92 Zinc finger protein-92 ZNF92 168374 ENSG00000146757 sequence aligns with sequence on 19p13.1-p12
chr7 65865771 65959562 7q11.21 7q11.21 608838 VKORC1L1 Vitamin K epoxide reductase complex, subunit 1-like 1 VKORC1L1 154807 ENSG00000196715 Vkorc1l1 (MGI:1916818)
chr7 65960683 65982313 7q21.11 7q11.21 611499 GUSB, MPS7 Glucuronidase, beta- GUSB 2990 ENSG00000169919 Mucopolysaccharidosis VII, 253220 (3), Autosomal recessive Gusb (MGI:95872)
chr7 66075788 66093342 7cen-q11.2 7q11.21 608310 ASL Argininosuccinate lyase ASL 435 ENSG00000126522 Argininosuccinic aciduria, 207900 (3), Autosomal recessive Asl (MGI:88084)
chr7 66114817 66154567 7q21.3-q22 7q11.21 606121 RCP Calcitonin gene-related peptide receptor component protein CRCP 27297 ENSG00000241258 Crcp (MGI:1100818)
chr7 66205271 66360450 7q11.21 7q11.21 603125 TPST1 Tyrosylprotein sulfotransferase 1 TPST1 8460 ENSG00000169902 Tpst1 (MGI:1298231)
chr7 66628880 66643228 7q11.21 7q11.21 611725 KCTD7, EPM3, CLN14 Potassium channel tetramerization domain containing 7 KCTD7 154881 ENSG00000243335 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3), Autosomal recessive Kctd7 (MGI:2442265)
chr7 66682090 66811463 7q11.21 7q11.21 609700 RABGEF1, RABEX5 RAB guanine nucleotide exchange factor 1 RABGEF1 27342 ENSG00000154710 Rabgef1 (MGI:1929459)
chr7 66987676 66995695 7q11 7q11.21 607444 SBDS, SDS SBDS gene SBDS 51119 ENSG00000126524 {Aplastic anemia, susceptibility to}, 609135 (3); Shwachman-Diamond syndrome, 260400 (3), Autosomal recessive Sbds (MGI:1913961)
chr7 66996804 67239519 7q11.21 7q11.21 611243 TYW1 tRNA-wybutosine-synthesizing protein 1, S. cerevisiae, homolog of TYW1 55253 ENSG00000198874 Tyw1 (MGI:2141161)
chr7 69598474 70793067 7q11.2 7q11.22 607270 KIAA0442, MRD26 KIAA0442 gene AUTS2 26053 ENSG00000158321 translocation break at 7q11.2 Mental retardation, autosomal dominant 26, 615834 (3), Autosomal dominant Auts2 (MGI:1919847)
chr7 71132404 71713600 7q11.22 7q11.22 615137 WBSCR17, GALNTL3, GALNACT17 Williams-Beuren syndrome chromosome region 17 GALNT17 64409 ENSG00000185274 Galnt17 (MGI:2137594)
chr7 72700000 77900000 7q11.23 613729 DEL7q11.23, C7DELq11.23 Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb contiguous gene deletion syndrome Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb, 613729 (4)
chr7 72700000 77900000 7q11.23 609757 DUP7q11.23, C7DUPq11.23 Chromosome 7q11.23 duplication syndrome Chromosome 7q11.23 duplication syndrome, 609757 (4), Autosomal dominant
chr7 72700000 77900000 7q11.23 194050 WBS, WMS, WS, DEL7q11, C7DELq11 Williams-Beuren syndrome (chromosome 7q11.23 deletion syndrome) contiguous gene syndrome Williams-Beuren syndrome, 194050 (4), Autosomal dominant
chr7 72879334 72951439 7q11.23 7q11.23 615753 POM121, POM121A, KIAA0618 POM121 transmembrane nucleoporin POM121 9883 ENSG00000196313 Pom121 (MGI:2137624)
chr7 72954844 73005931 7q11.23 7q11.23 612550 TRIM74, TRIM50C Tripartite motif-containing protein 74 TRIM74 378108 ENSG00000155428
chr7 73302515 73308866 7q11.23 7q11.23 615732 NSUN5, WBSCR20, WBSCR20A NOP2/SUN RNA methyltransferase family, member 5 NSUN5 55695 ENSG00000130305 Nsun5 (MGI:2140844)
chr7 73312535 73328081 7q11.23 7q11.23 612548 TRIM50, TRIM50A Tripartite motif-containing protein 50 TRIM50 135892 ENSG00000146755 Trim50 (MGI:2664992)
chr7 73328151 73358636 7q11.23 7q11.23 604839 FKBP6 FK506-binding protein 6 FKBP6 8468 ENSG00000077800 Fkbp6 (MGI:2137612)
chr7 73433778 73436119 7q11.23 7q11.23 601766 FZD9, FZD3 Frizzled, Drosophila, homolog of, 9 FZD9 8326 ENSG00000188763 Fzd9 (MGI:1313278)
chr7 73440397 73522284 7q11-q21 7q11.23 605681 BAZ1B, WSTF, WBSCR9 Bromodomain adjacent to zinc finger domain, 1B BAZ1B 9031 ENSG00000009954 Baz1b (MGI:1353499)
chr7 73536352 73557734 7q11.23 7q11.23 605846 BCL7B B-cell CLL/lymphoma 7B BCL7B 9275 ENSG00000106635 Bcl7b (MGI:1332238)
chr7 73568943 73578682 7q11.23 7q11.23 605842 TBL2 Transducin-beta-like 2 TBL2 26608 ENSG00000106638 Tbl2 (MGI:1351652)
chr7 73593193 73624542 7q11.23 7q11.23 605678 MLXIPL, WBSCR14, MONDOB, CHREBP MLX interacting protein-like MLXIPL 51085 ENSG00000009950 Mlxipl (MGI:1927999)
chr7 73665345 73672109 7q11.23 7q11.23 610039 VPS37D, WBSCR24 Vacuolar protein sorting 37, yeast, homolog of, D VPS37D 155382 ENSG00000176428 Vps37d (MGI:2159402)
chr7 73683567 73698220 7q11.23 7q11.23 615733 BUD23, WBSCR22, MERM1 rRNA methyltransferase and ribosome maturation factor Bud23 BUD23 114049 ENSG00000071462 Bud23 (MGI:1913388)
chr7 73699204 73719686 7q11.2 7q11.23 186590 STX1A, STX1 Syntaxin 1A, brain STX1A 6804 ENSG00000106089 Stx1a (MGI:109355)
chr7 73735068 73735999 7q11.23 7q11.23 612545 WBSCR26 Williams-Beuren syndrome chromosome region 26 ABHD11-AS1 171022
chr7 73768996 73770269 7q11 7q11.23 602910 CLDN3, CPETR2 Claudin-3 (Clostridium perfringens enterotoxin receptor 2) CLDN3 1365 ENSG00000165215 Cldn3 (MGI:1329044)
chr7 73830862 73832692 7q11.23 7q11.23 602909 CLDN4, CPETR1, CPER Claudin 4 CLDN4 1364 ENSG00000189143 Cldn4 (MGI:1313314)
chr7 73834589 73842526 7q11.23 7q11.23 612546 WBSCR27 Williams-Beuren syndrome chromosome region 27 METTL27 155368 ENSG00000165171 Mettl27 (MGI:1933146)
chr7 73860847 73865892 7q11.23 7q11.23 612547 WBSCR28 Williams-Beuren syndrome chromosome region 28 TMEM270 135886 ENSG00000175877 Tmem270 (MGI:1923879)
chr7 74027771 74069906 7q11.2 7q11.23 130160 ELN, SVAS, ADCL1 Elastin ELN 2006 ENSG00000049540 Cutis laxa, autosomal dominant, 123700 (3), Autosomal dominant; Supravalvar aortic stenosis, 185500 (3), Autosomal dominant
chr7 74083776 74122524 7q11.23 7q11.23 601329 LIMK1 LIM domain kinase 1 LIMK1 3984 ENSG00000106683 Limk1 (MGI:104572)
chr7 74174375 74197100 7q11.23 7q11.23 603431 EIF4H, WBSCR1, WSCR1 Eukaryotic translation initiation factor 4H EIF4H 7458 ENSG00000106682 Eif4h (MGI:1341822)
chr7 74191197 74191293 7q11.23 7q11.23 615070 MIR590 Micro RNA 590 MIR590 693175
chr7 74209756 74229833 7q11.23 7q11.23 605719 LAT2, WBSCR5, LAB, NTAL Linker for activation of T cells family, member 2 LAT2 7462 ENSG00000086730 Lat2 (MGI:1926479)
chr7 74231501 74254457 7q11.23 7q11.23 600404 RFC2 Replication factor C2, 40kD (activator 1, 40kD) RFC2 5982 ENSG00000049541 Rfc2 (MGI:1341868)
chr7 74289436 74405942 7q11.23 7q11.23 603432 CLIP2, CYLN2, WBSCR4, WSCR4 CAP-GLY domain-containing linker protein 2 CLIP2 7461 ENSG00000106665 ?neurodevelopmental defect of Williams syndrome Clip2 (MGI:1313136)
chr7 74453789 74603069 7q11.23 7q11.23 604318 GTF2IRD1, GTF3, MUSTRD1, WBS GTF21 repeat domain-containing protein 1 GTF2IRD1 9569 ENSG00000006704 Gtf2ird1 (MGI:1861942)
chr7 74657664 74760691 7q11.23 7q11.23 601679 GTF2I, BAP135, WBS General transcription factor II-I (BTK-associated protein, 135kD) GTF2I 2969 ENSG00000263001 Gtf2i (MGI:1202722)
chr7 74773961 74789375 7q11.23 7q11.23 608512 NCF1 Neutrophil cytosolic factor-1, 47kD NCF1 653361 ENSG00000158517 Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3), Autosomal recessive Ncf1 (MGI:97283)
chr7 74964692 75031531 7q11.23 7q11.23 617033 GATSL2, CASTOR2 GATS protein-like 2 CASTOR2 729438 ENSG00000274070 Gatsl2 (MGI:1933384)
chr7 75395628 75405612 7q11.23 7q11.23 612549 TRIM73, TRIM50B Tripartite motif-containing protein 73 TRIM73 375593 ENSG00000178809
chr7 75416780 75486287 7q11.23 7q11.23 615754 POM121C, POM121-2 POM121 Transmembrane nucleoporin C POM121C 100101267 ENSG00000272391 Pom121 (MGI:2137624)
chr7 75533297 75738975 7q11.23 7q11.23 601767 HIP1 Huntingtin interacting protein-1 HIP1 3092 ENSG00000127946 {Prostate cancer, progression of}, 176807 (1), Autosomal dominant Hip1 (MGI:1099804)
chr7 75769523 75791582 7q11.2 7q11.23 604697 CCL26, SCYA26 Chemokine, C-C motif, ligand 26 CCL26 10344 ENSG00000006606
chr7 75810824 75823355 7q11.23 7q11.23 602495 CCL24, SCYA24, MPIF2 Chemokine, C-C motif, ligand 24 CCL24 6369 ENSG00000106178 Ccl24 (MGI:1928953)
chr7 75878991 75888925 7q11.23 7q11.23 615203 RHBDD2 Rhomboid domain-containing protein 2 RHBDD2 57414 ENSG00000005486 Rhbdd2 (MGI:1915612)
chr7 75915101 75986854 7q11.2 7q11.23 124015 POR Cytochrome P450 oxidoreductase POR 5447 ENSG00000127948 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3), Autosomal recessive; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3) Por (MGI:97744)
chr7 75986836 75994673 7q11.23 7q11.23 616550 TMEM120A, TMPIT, NET29 Transmembrane protein 120A TMEM120A 83862 ENSG00000189077 Tmem120a (MGI:2686991)
chr7 75995819 76049343 7q11.23 7q11.23 616695 STYXL1, MKSTYX, DUSP24 Serine/threonine/tyrosine-interacting protein-like 1 STYXL1 51657 ENSG00000127952 Styxl1 (MGI:1923821)
chr7 76048018 76067507 7q11.23 7q11.23 154100 MDH2, EIEE51 Malate dehydrogenase, mitochondrial MDH2 4191 ENSG00000146701 Epileptic encephalopathy, early infantile, 51, 617339 (3), Autosomal recessive Mdh2 (MGI:97050)
chr7 76302557 76304300 7q11.23 7q11.23 602195 HSPB1, HSP27, CMT2F, HMN2B Heat-shock 27kD protein-1 HSPB1 3315 ENSG00000106211 Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3), Autosomal dominant; Neuropathy, distal hereditary motor, type IIB, 608634 (3), Autosomal dominant Hspb1 (MGI:96240)
chr7 76326790 76359024 7q11.23 7q11.23 605356 YWHAG, EIEE56 Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma isoform YWHAG 7532 ENSG00000170027 Epileptic encephalopathy, early infantile, 56, 617665 (3), Autosomal dominant Ywhag (MGI:108109)
chr7 76389328 76410024 7q11.23 7q11.23 607639 SRCRB4D Protein with 4 group B scavenger receptor cysteine-rich domains SSC4D 136853 ENSG00000146700 Ssc4d (MGI:1924709)
chr7 76397523 76442070 7q11.23 7q11.23 182889 ZP3, ZP3A, ZP3B, OOMD3 Zona pellucida glycoprotein-3 (sperm receptor) ZP3 7784 ENSG00000188372 Oocyte maturation defect 3, 617712 (3), Autosomal dominant Zp3 (MGI:99215)
chr7 76461654 76505994 7q11.23 7q11.23 613141 DTX2, KIAA1528 Deltex, Drosophila, homolog of, 2 DTX2 113878 ENSG00000091073 Dtx2 (MGI:1921448)
chr7 76510341 76516520 7q11.23 7q11.23 611887 UPK3B, UPIIIB, P35 Uroplakin 3B UPK3B 105375355 ENSG00000243566
chr7 76609985 76627302 7q11.2 7q11.23 600587 POMZP3 POM121/ZP3 fusion protein POMZP3 22932 ENSG00000146707
chr7 77193370 77199832 7q11.2 7q11.23 605351 FGL2 Fibrinogen-like 2 FGL2 10875 ENSG00000127951 Fgl2 (MGI:103266)
chr7 77310750 77416418 7q11.23 7q11.23 613552 GSAP, PION Gamma-secretase-activating protein GSAP 54103 ENSG00000186088 Gsap (MGI:2442259)
chr7 77537189 77640070 7q11.23 7q11.23 600079 PTPN12, PTPG1 Protein tyrosine phosphatase, nonreceptor-type, 12 PTPN12 5782 ENSG00000127947 Colon cancer, somatic, 114500 (3) Ptpn12 (MGI:104673)
chr7 77657659 77697344 7q21 7q11.23 616048 APTR Alu-mediated CDKN1A/p21 transcriptional regulator, noncoding APTR 100505854
chr7 77798791 77957503 7q11.23-q21 7q11.23-q21.11 616785 PHTF2 Putative homeodomain transcription factor 2 PHTF2 57157 ENSG00000006576 Phtf2 (MGI:1916020)
chr7 77900000 98400000 7q21 608950 MAGI2IT, PR47 MAGI2 intronic transcript
chr7 77900000 107800000 7q21-q22 154276 MHS3 Malignant hyperthermia susceptibility 3 7977 ?mutation in CACNA2 {Malignant hyperthermia susceptibility 3}, 154276 (2), Autosomal dominant
chr7 77900000 98400000 7q21 612223 STQTL11 Stature quantitative trait locus 11 100270795 associated with rs2282978 {Stature QTL 11}, 612223 (2)
chr7 78017054 79453573 7q21 7q21.11 606382 MAGI2, AIP1, KIAA0705 Membrane-associated guanylate kinase, WW and PDZ domains-containing, 2 MAGI2 9863 ENSG00000187391 Nephrotic syndrome 15, 617609 (3), Autosomal recessive Magi2 (MGI:1354953)
chr7 80134823 80219408 7q21 7q21.11 139310 GNAI1 Guanine nucleotide-binding protein (G protein), alpha-inhibiting activity polypeptide-1 GNAI1 2770 ENSG00000127955 Gnai1 (MGI:95771)
chr7 80457290 80512502 7q21.11 7q21.11 139395 GNAT3, GDCA Guanine nucleotide-binding protein, alpha-transducing activity polypeptide 3 GNAT3 346562 ENSG00000214415 Gnat3 (MGI:3588268)
chr7 80602187 80679276 7q21.11 7q21.11 173510 CD36, CHDS7, BDPLT10 CD36 antigen (collagen type I) CD36 948 ENSG00000135218 {Coronary heart disease, susceptibility to, 7}, 610938 (3); [Macrothrombocytopenia] (1); {Malaria, cerebral, reduced risk of}, 611162 (3); {Malaria, cerebral, susceptibility to}, 611162 (3); Platelet glycoprotein IV deficiency, 608404 (3), Autosomal recessive Cd36 (MGI:107899)
chr7 80742535 80922378 7q21.11 7q21.11 602645 SEMA3C Semaphorin 3C SEMA3C 10512 ENSG00000075223 Sema3c (MGI:107557)
chr7 81699005 81770437 7q21.1 7q21.11 142409 HGF, DFNB39 Hepatic growth factor HGF 3082 ENSG00000019991 Deafness, autosomal recessive 39, 608265 (3), Autosomal recessive Hgf (MGI:96079)
chr7 81946443 82443805 7q21-q22 7q21.11 114204 CACNA2, CACNL2A Calcium channel, voltage-dependent, L type, alpha 2/delta subunit CACNA2D1 781 ENSG00000153956 Cacna2d1 (MGI:88295)
chr7 82754004 83164160 7q11.23-q21.1 7q21.11 604918 PCLO, PCH3 Piccolo, mouse, homolog of PCLO 27445 ENSG00000186472 mutation identified in 1 PCHD3 family ?Pontocerebellar hypoplasia, type 3, 608027 (3), Autosomal recessive Pclo (MGI:1349390)
chr7 83363905 83649162 7q21.11 7q21.11 608166 SEMA3E, SEMAH, KIAA0331 Semaphorin 3E SEMA3E 9723 ENSG00000170381 mutation identified in 1 CHARGE patient ?CHARGE syndrome, 214800 (3), Autosomal dominant Sema3e (MGI:1340034)
chr7 83956845 84515188 7q21.11 7q21.11 603961 SEMA3A, SEMAD, COLL1, HH16 Semaphorin 3A SEMA3A 10371 ENSG00000075213 {Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3), Autosomal dominant Sema3a (MGI:107558)
chr7 84995191 85187175 7q21.11 7q21.11 609907 SEMA3D Semaphorin 3D SEMA3D 223117 ENSG00000153993 Sema3d (MGI:1860118)
chr7 86643913 86864878 7q21.1-q21.2 7q21.11-q21.12 601115 GRM3 Glutamate receptor, metabotropic-3 GRM3 2913 ENSG00000198822 Grm3 (MGI:1351340)
chr7 86876905 87059713 7q21.12 7q21.12 614048 KIAA1324L, EIG121L KIAA1324-like gene KIAA1324L 222223 ENSG00000164659 9330182L06Rik (MGI:2443264)
chr7 87152360 87196331 7q21.12 7q21.12 608491 DMTF1, DMP1 Cyclin D-binding MYB-like transcription factor 1 DMTF1 9988 ENSG00000135164 Dmtf1 (MGI:1344415)
chr7 87196161 87220586 7q21.12 7q21.12 616993 TMEM243, C7orf23, MMTRAG Transmembrane protein 243 TMEM243 79161 ENSG00000135185 Tmem243 (MGI:3606159)
chr7 87325346 87345491 7q21.12 7q21.12 616403 TP53TG1 TP53 target gene 1 TP53TG1 11257
chr7 87345634 87399795 7q21.1 7q21.12 606090 CROT, COT Carnitine octanoyltransferase CROT 54677 ENSG00000005469 Crot (MGI:1921364)
chr7 87398987 87476721 7q21.1 7q21.12 171060 ABCB4, PGY3, MDR3, ICP3 ATP-binding cassette, subfamily B, member 4 (P-glycoprotein-3/multiple drug resistance-3) ABCB4 5244 ENSG00000005471 within 500kb of MDR1 Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3), Autosomal recessive, Autosomal dominant; Cholestasis, progressive familial intrahepatic 3, 602347 (3), Autosomal recessive; Gallbladder disease 1, 600803 (3), Autosomal recessive, Autosomal dominant Abcb4 (MGI:97569)
chr7 87503862 87713322 7q21.1 7q21.12 171050 ABCB1, PGY1, MDR1, IBD13, CLCs ATP-binding cassette, subfamily B, member 1 (P-glycoprotein-1/multiple drug resistance-1) ABCB1 5243 ENSG00000085563 {Colchicine resistance}, 120080 (3); {Inflammatory bowel disease 13}, 612244 (3) Abcb1a (MGI:97570)
chr7 87627655 87832297 7q21.12 7q21.12 617295 RUNDC3B, RPIP9 RUN domain-containing protein 3B RUNDC3B 154661 ENSG00000105784 Rundc3b (MGI:2685286)
chr7 87834498 87876376 7q21.12 7q21.12 610821 SLC25A40 Solute carrier family 25, member 40 SLC25A40 55972 ENSG00000075303 Slc25a40 (MGI:2442486)
chr7 87876228 87909540 7q21.3 7q21.12 604281 ASK, DBF4 Activator of S-phase kinase DBF4 10926 ENSG00000006634 Dbf4 (MGI:1351328)
chr7 87934142 88202888 7q21 7q21.12 603709 ADAM22, EIEE61 A disintegrin and metalloproteinase domain 22 ADAM22 53616 ENSG00000008277 mutation identified in 1 EIEE61 patient ?Epileptic encephalopathy, early infantile, 61, 617933 (3), Autosomal recessive Adam22 (MGI:1340046)
chr7 88205114 88226992 7q21.1 7q21.12 182520 SRI, SCN Sorcin (class 4 gene) SRI 6717 ENSG00000075142 Sri (MGI:98419)
chr7 88276428 88306912 7q21 7q21.12 611098 STEAP4, STAMP2, TIARP Six-transmembrane epithelial antigen of prostate 4 STEAP4 79689 ENSG00000127954 Steap4 (MGI:1923560)
chr7 90154374 90164826 7q21 7q21.13 604415 STEAP Six-transmembrane epithelial antigen of the prostate STEAP1 26872 ENSG00000164647 Steap1 (MGI:1917608)
chr7 90211685 90243407 7q21 7q21.13 605094 STEAP2, STAMP1, IPCA1, PCANAP1 Six-transmembrane epithelial antigen of prostate 2 STEAP2 261729 ENSG00000157214 Steap2 (MGI:1921301)
chr7 90346664 90391454 7q21.13 7q21.13 610920 GTPBP10, OBGH2 GTP-binding protein 10 GTPBP10 85865 ENSG00000105793 Gtpbp10 (MGI:2385599)
chr7 90403333 90415953 7q21 7q21.13 611232 CLKDN12 Claudin 12 CLDN12 9069 ENSG00000157224 Cldn12 (MGI:1929288)
chr7 90595731 91210589 7q21.13 7q21.13 610679 CDK14, PFTK1, PFTAIRE1, KIAA0834 Cyclin-dependent kinase 14 CDK14 5218 ENSG00000058091 Cdk14 (MGI:894318)
chr7 91264467 91268816 7q21 7q21.13 603408 FZD1 Frizzled, Drosophila, homolog of, 1 FZD1 8321 ENSG00000157240 Fzd1 (MGI:1196625)
chr7 91500000 98400000 7q21.2-q21.3 183600 SHFM1, SHFD1, SHSF1 Split hand/foot malformation (ectrodactyly) type 1 contiguous gene deletion syndrome Split hand/foot malformation 1, 183600 (4), Autosomal dominant
chr7 91872875 91880732 7q21.2 7q21.2 602318 MTERF Transcription termination factor, mitochondrial MTERF1 7978 ENSG00000127989 Mterf1a,Mterf1b (MGI:1918240,MGI:3704243)
chr7 91940866 92112907 7q21-q22 7q21.2 604001 AKAP9, YOTIAO, AKAP450 A-kinase anchor protein 9 AKAP9 10142 ENSG00000127914 mutation identified in 1 LQT11 family ?Long QT syndrome-11, 611820 (3), Autosomal dominant
chr7 92112148 92134744 7q21.2-q21.3 7q21.2 601637 CYP51A1, CYP51 Cytochrome P450, family 51, subfamily A, polypeptide 1 (lanosterol 14-alpha-demethylase) CYP51A1 1595 ENSG00000001630 Cyp51 (MGI:106040)
chr7 92198968 92246099 7q11.2-q21 7q21.2 604214 CCM1, CAM, KRIT1 KREV interaction trapped 1 KRIT1 889 ENSG00000001631 Cavernous malformations of CNS and retina, 116860 (3), Autosomal dominant; Cerebral cavernous malformations-1, 116860 (3), Autosomal dominant; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3), Autosomal dominant Krit1 (MGI:1930618)
chr7 92447447 92494630 7q21.2 7q21.2 614518 GATAD1, ODAG, CMD2B GATA zinc finger domain-containing protein 1 GATAD1 57798 ENSG00000157259 mutation identified in 1 GATAD1 family ?Cardiomyopathy, dilated, 2B, 614672 (3), Autosomal recessive Gatad1 (MGI:1914460)
chr7 92468379 92477914 7q21-q22 7q21.2 604659 ERVW1, ERVWE1, HERVW Endogenous retroviral family W, member 1 (syncytin) ERVW-1 30816 ENSG00000242950
chr7 92487022 92528530 7q21-q22 7q21.2 602136 PEX1, ZWS1, PBD1A, PBD1B, HMLR1 Peroxisome biogenesis factor-1 PEX1 5189 ENSG00000127980 Heimler syndrome 1, 234580 (3), Autosomal recessive; Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3), Autosomal recessive; Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3), Autosomal recessive Pex1 (MGI:1918632)
chr7 92604920 92836626 7q21-q22 7q21.2 603368 CDK6, PLSTIRE, MCPH12 Cyclin-dependent kinase 6 CDK6 1021 ENSG00000105810 mutation identified in 1 MCPH12 family ?Microcephaly 12, primary, autosomal recessive, 616080 (3), Autosomal recessive Cdk6 (MGI:1277162)
chr7 93099512 93118022 7q21 7q21.2 610456 SAMD9, NFTC, MIRAGE Sterile alpha motif domain-containing protein 9 SAMD9 54809 ENSG00000205413 MIRAGE syndrome, 617053 (3), Autosomal dominant; Tumoral calcinosis, familial, normophosphatemic, 610455 (3), Autosomal recessive
chr7 93130053 93148398 7q21.2 7q21.2 611170 SAMD9L, ATXPC Sterile alpha motif domain-containing 9-like SAMD9L 219285 ENSG00000177409 Ataxia-pancytopenia syndrome, 159550 (3), Autosomal dominant Samd9l (MGI:1343184)
chr7 93188538 93232292 7q21.2-q21.3 7q21.2 614133 HEPACAM2, MIKI Hepacam family member 2 HEPACAM2 253012 ENSG00000188175 Hepacam2 (MGI:2141520)
chr7 93232339 93361122 7q21.2-q21.3 7q21.2-q21.3 616465 VPS50, CCDC132, KIAA1861 VPS50, EARP/GARPII complex subunit VPS50 55610 ENSG00000004766 Vps50 (MGI:1920538)
chr7 93424486 93574729 7q21.3 7q21.3 114131 CALCR, CRT Calcitonin receptor CALCR 799 ENSG00000004948 not deleted in Williams syndrome {Osteoporosis, postmenopausal, susceptibility}, 166710 (3), Autosomal dominant Calcr (MGI:101950)
chr7 93483935 93484018 7q21.3 7q21.3 614523 MIR489 Micro RNA 489 MIR489 574442 in intron 4 of CALCR
chr7 93885396 93890990 7q22 7q21.3 600033 TFPI2 Tissue factor pathway inhibitor-2 TFPI2 7980 ENSG00000105825 Tfpi2 (MGI:108543)
chr7 93906507 93911264 7q21.3 7q21.3 189970 GNGT1 Guanine nucleotide-binding protein, gamma-transducing activity polypeptide 1 GNGT1 2792 ENSG00000127928 Gngt1 (MGI:109165)
chr7 93921703 93926513 7q21.3 7q21.3 604390 GNG11 Guanine nucleotide-binding protein, gamma 11 GNG11 2791 ENSG00000127920 Gng11 (MGI:1913316)
chr7 93962769 94004381 7q21.3 7q21.3 605456 BET1 Bet1 golgi vesicular membrane-trafficking protein BET1 10282 ENSG00000105829 Bet1 (MGI:1343104)
chr7 94394560 94431231 7q22.1 7q21.3 120160 COL1A2, EDSCV, EDSARTH2 Collagen I, alpha-2 polypeptide COL1A2 1278 ENSG00000164692 ~17cM from CF Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3), Autosomal dominant; Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3), Autosomal recessive; imperfecta, type III, 259420 (3), Autosomal dominant; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant; {Osteoporosis, postmenopausal}, 166710 (3), Autosomal dominant Col1a2 (MGI:88468)
chr7 94509857 94633464 7q21 7q21.3 611686 CASD1, C7orf12 CAS1 domain-containing protein 1 CASD1 64921 ENSG00000127995 Casd1 (MGI:2384865)
chr7 94585223 94656208 7q21 7q21.3 604149 SGCE, DYT11 Sarcoglycan, epsilon SGCE 8910 ENSG00000127990 pseudogene on 2q21; maternally imprinted Dystonia-11, myoclonic, 159900 (3), Autosomal dominant Sgce (MGI:1329042)
chr7 94656324 94669694 7q21 7q21.3 609810 PEG10, KIAA1051 Paternally expressed gene 10 PEG10 23089 ENSG00000242265 Peg10 (MGI:2157785)
chr7 94907201 95296414 7q21.3 7q21.3 602468 PPP1R9A, NRBI, NRB1, KIAA1222 Protein phosphatase 1, regulatory subunit 9A (neurabin I) PPP1R9A 55607 ENSG00000158528 Ppp1r9a (MGI:2442401)
chr7 95297675 95324705 7q21.3 7q21.3 168820 PON1, PON, ESA, MVCD5 Paraoxonase-1 PON1 5444 ENSG00000005421 {Coronary artery disease, susceptibility to} (3); {Coronary artery spasm 2, susceptibility to (3); {Microvascular complications of diabetes 5}, 612633 (3); {Organophosphate poisoning, sensitivity to} (3) Pon1 (MGI:103295)
chr7 95359871 95396374 7q21.3 7q21.3 602720 PON3 Paraoxonase-3 PON3 5446 ENSG00000105852 Pon3 (MGI:106686)
chr7 95404861 95435071 7q21.3 7q21.3 602447 PON2 Paraoxonase-2 PON2 5445 ENSG00000105854 {Coronary artery disease, susceptibility to} (3) Pon2 (MGI:106687)
chr7 95485438 95544737 7q21-q22 7q21.3 605761 ASB4 Ankyrin repeat-containing SOCS box protein 4 ASB4 51666 ENSG00000005981 Asb4 (MGI:1929751)
chr7 95583496 95596612 7q21.3-q22.1 7q21.3 602527 PDK4 Pyruvate dehydrogenase kinase, isoenzyme 4 PDK4 5166 ENSG00000004799 Pdk4 (MGI:1351481)
chr7 95772505 96110321 7q21.3-q22.1 7q21.3 603772 DNCI1 Dynein, cytoplasmic, intermediate chain 1 DYNC1I1 1780 ENSG00000158560 Dync1i1 (MGI:107743)
chr7 96120219 96322146 7q21.3 7q21.3 603859 SLC25A13, CTLN2 Solute carrier family 25 (mitochondrial carrier, citrin), member 13 SLC25A13 10165 ENSG00000004864 Citrullinemia, adult-onset type II, 603471 (3), Autosomal recessive; Citrullinemia, type II, neonatal-onset, 605814 (3), Autosomal recessive Slc25a13 (MGI:1354721)
chr7 96481625 96709890 7q21.3-q22.1 7q21.3 601285 SEM!, DSS1 Proteasome 26S subunit SEM1 SEM1 7979 ENSG00000127922 ?gene mutant in SHFM1 Sem1 (MGI:109238)
chr7 97005977 97011039 7q22 7q21.3 600030 DLX6 Distal-less homeo box-6 DLX6 1750 ENSG00000006377 Dlx6 (MGI:101927)
chr7 97020389 97024830 7q22 7q21.3 600028 DLX5, SHFM1D Distal-less homeo box-5 DLX5 1749 ENSG00000105880 mutation identified in 1 family ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3), Autosomal recessive Dlx5 (MGI:101926)
chr7 97116592 97181762 7q21.3 7q21.3 615773 ACN9 Acn9, S. cerevisiae, homolog of SDHAF3 57001 ENSG00000196636 Sdhaf3 (MGI:1913288)
chr7 97731958 97740471 7q21-q22 7q21.3 162320 TAC1, TAC2, NKNA Tachykinin 1 (substance K; neurokinin A; neurokinin 2; neuromedin L; neuropeptide gamma; tachykinin 2) TAC1 6863 ENSG00000006128 Tac1 (MGI:98474)
chr7 97852116 97928561 7q21-q31 7q21.3 108370 ASNS, ASNSD Asparagine synthetase ASNS 440 ENSG00000070669 temperature sensitive G1 mutant Asparagine synthetase deficiency, 615574 (3), Autosomal recessive Asns (MGI:1350929)
chr7 98106867 98209635 7q21.3-q22.1 7q21.3 610989 LMTK2, KPI2, BREK, KIAA1079 Lemur tyrosine kinase 2 LMTK2 22853 ENSG00000164715 Lmtk2 (MGI:3036247)
chr7 98212253 98212958 7q21 7q21.3 608606 BHLHA15, MIST1 Basic helix-loop-helix family, member A15 BHLHA15 168620 ENSG00000180535 Bhlha15 (MGI:891976)
chr7 98215442 98252250 7q21.3 7q21.3 614781 TECPR1, KIAA1358 Tectonin beta-propeller repeat-containing 1 TECPR1 25851 ENSG00000205356 Tecpr1 (MGI:1917631)
chr7 98281666 98322397 7q21.3 7q21.3 615628 BRI3 Brain protein I3 BRI3 25798 ENSG00000164713 Bri3 (MGI:1933174)
chr7 98291649 98401114 7q21.3-q22.1 7q21.3-q22.1 611877 BAIAP2L1, IRTKS BAI1-associated protein 2-like 1 BAIAP2L1 55971 ENSG00000006453 Baiap2l1 (MGI:1914148)
chr7 98400000 107800000 7q22 209850 AUTS1 Autism, susceptibility to, 1 100188832 {Autism susceptibility 1}, 209850 (2), Isolated cases, Multifactorial
chr7 98400000 132900000 7q22-q32 148750 G7P1 Kinase-like protein
chr7 98400000 104200000 7q22.1 612130 GAEC1 Gene amplified in esophageal cancer 1 100126794
chr7 98400000 107800000 7q22 191390 IBD11 Inflammatory bowel disease 11 100529151 associated with MUC3A {Inflammatory bowel disease 11}, 191390 (2), Multifactorial
chr7 98400000 107800000 7q22 605633 MUC3B Mucin 3B, intestinal MUC3B 57876
chr7 98400000 107800000 7q22 608580 MYH16 Myosin, heavy chain 16, skeletal muscle MYH16 84176 inactivated in humans; expressed in masticatory muscles in nonhuman primates
chr7 98400000 159345973 7q22-qter 162820 NM, NCR Neutrophil migration, abnormal NM 4827 ?Neutrophil chemotactic response, abnormal, 162820 (2), Autosomal dominant
chr7 98400000 107800000 7q22 608562 PAPA4 Polydactyly, postaxial, type A4 450096 highest lod with D7S1799 Polydactyly, postaxial, type A4, 608562 (2)
chr7 98400000 132900000 7q22-q32 607458 SCA18, SMNA Spinal cerebellar ataxia 18 SCA18 94008 between D7S2418 and D7S1804 Spinocerebellar ataxia 18, 607458 (2), Autosomal dominant
chr7 98617284 98629868 7q21.3-q22.1 7q22.1 600750 NPTX2 Pentraxin II NPTX2 4885 ENSG00000106236 Nptx2 (MGI:1858209)
chr7 98878489 99013242 7q21.2-q22.1 7q22.1 603015 TRRAP Transformation/transcription domain-associated protein TRRAP 8295 ENSG00000196367 Trrap (MGI:2153272)
chr7 99027434 99144119 7q21.1-q31.1 7q22.1 605568 SMURF1 SMAD ubiquitination regulatory factor 1 SMURF1 57154 ENSG00000198742 Smurf1 (MGI:1923038)
chr7 99145466 99219416 7q22.1 7q22.1 614107 KPNA7 Karyopherin alpha 7 KPNA7 402569 ENSG00000185467 Kpna7 (MGI:2141165)
chr7 99325872 99366261 7q21-q22 7q22.1 604220 ARPC1A, SOP2L Actin-related protein 2/3 complex, subunit 1A ARPC1A 10552 ENSG00000241685 Arpc1a (MGI:1928896)
chr7 99374253 99394804 7q21-q22 7q22.1 604223 ARPC1B, ARC41, PLTEID Actin-related protein 2/3 complex, subunit 1B ARPC1B 10095 ENSG00000130429 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive Arpc1b (MGI:1343142)
chr7 99394672 99408681 7q22.1 7q22.1 607075 PDAP1, PAP1, PAP PDGFA-associated protein 1 PDAP1 11333 ENSG00000106244 Pdap1 (MGI:2448536)
chr7 99408619 99419615 7q22.1 7q22.1 603477 BUD31, G10 Bud31, S. cerevisiae, homolog of BUD31 8896 ENSG00000106245
chr7 99416738 99438838 7q22.1 7q22.1 614774 PTCD1, KIAA0632 Pentatricopeptide repeat domain 1 PTCD1 26024 ENSG00000106246
chr7 99438911 99457376 7q21-q22 7q22.1 603052 CPSF4, CPSF30, NEB1 Cleavage-polyadenylation specificity factor 4, 30kD CPSF4 10898 ENSG00000160917 Cpsf4 (MGI:1861602)
chr7 99504643 99534105 7q22.1 7q22.1 611272 ZKSCAN5, ZFP95, KIAA1015 Zinc finger protein with KRAB and SCAN domains 5 ZKSCAN5 23660 ENSG00000196652 Zkscan5 (MGI:107533)
chr7 99558421 99576452 7q22.1 7q22.1 617891 ZNF655, VIK Zinc finger protein 655 ZNF655 79027 ENSG00000197343 Zfp655 (MGI:1919861)
chr7 99648188 99680025 7q22.1 7q22.1 605325 CYP3A5, P450PCN3 Cytochrome P450, subfamily IIIA, polypeptide 5 CYP3A5 1577 ENSG00000106258 {Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3), Multifactorial Cyp3a16,Cyp3a11,Cyp3a41b,Cyp3a44,Cyp3a41a (MGI:2449818,MGI:106099,MGI:3714859,MGI:88609,MGI:1858451)
chr7 99705036 99735199 7q22.1 7q22.1 605340 CYP3A7 Cytochrome P450, subfamily IIIA, polypeptide 7 CYP3A7 1551 ENSG00000160870 Cyp3a13 (MGI:88610)
chr7 99756959 99784187 7q22.1 7q22.1 124010 CYP3A4 Cytochrome P450, subfamily IIIA (nifedipine oxidase) polypeptide 4 CYP3A4 1576 ENSG00000160868
chr7 99827625 99867137 7q22.1 7q22.1 606534 CYP3A43 Cytochrome P450, subfamily IIIa, polypeptide 43 CYP3A43 64816 ENSG00000021461
chr7 99923268 99929619 7q22.1 7q22.1 611925 GJC3, CX30.2, CX31.3 Gap junction protein, gamma-3 GJC3 349149 ENSG00000176402 Gjc3 (MGI:2153041)
chr7 99966726 99976111 7q22.1 7q22.1 194460 AZGP1, ZAG Alpha-2-glycoprotein, zinc AZGP1 563 ENSG00000160862 Azgp1 (MGI:103163)
chr7 100015551 100045373 7q21-q22 7q22.1 601260 ZNF36, KOX18 Zinc finger protein-36 (KOX 18) ZKSCAN1 7586 ENSG00000106261 Zkscan1 (MGI:1921820)
chr7 100049773 100065040 7q21-q22 7q22.1 601261 ZNF38, KOX25 Zinc finger protein-38 (KOX 25) ZSCAN21 7589 ENSG00000166529 Zscan21 (MGI:99182)
chr7 100063846 100082547 7q22.1 7q22.1 194510 ZNF3 Zinc finger protein-3 ZNF3 7551 ENSG00000166526 ?relation to ZNF4, ZNF5; previous assignment to Chr.5 Zfp113 (MGI:1929116)
chr7 100088959 100092199 7q22.1 7q22.1 614729 COPS6, CSN6 COP9 signalosome, subunit 6 COPS6 10980 ENSG00000168090 Cops6 (MGI:1349439)
chr7 100092727 100101939 7q21.3-q22.1 7q22.1 600592 MCM7, MCM2 Minichromosome maintenance deficient, S. cerevisiae, homolog of, 7 MCM7 4176 ENSG00000166508 Mcm7 (MGI:1298398)
chr7 100093559 100093642 7q22.1 7q22.1 612150 MIR25, MIRN25 Micro RNA 25 MIR25 407014
chr7 100093767 100093846 7q22 7q22.1 612984 MIR93, MIRN9 Micro RNA 93 MIR93 407050
chr7 100093992 100094073 7q22 7q22.1 612983 MIR106B, MIRN106B Micro RNA 106B MIR106B 406900
chr7 100101412 100107179 7q22.1 7q22.1 602296 AP4M1, SPG50, CPSQ3 Adaptor-related protein complex 4, mu-1 subunit AP4M1 9179 ENSG00000221838 Spastic paraplegia 50, autosomal recessive, 612936 (3), Autosomal recessive Ap4m1 (MGI:1337063)
chr7 100107069 100127207 7q22.1 7q22.1 602955 TAF6, TAF2E, TAFII80, ALYUS TAF6 RNA polymerase II, TATA box-binding protein-associated factor, 80kD TAF6 6878 ENSG00000106290 Alazami-Yuan syndrome, 617126 (3), Autosomal recessive Taf6 (MGI:109129)
chr7 100119641 100125507 7q22.1 7q22.1 610047 CNPY4, PRAT4B, MGC40499 Canopy 4, zebrafish, homolog of CNPY4 245812 ENSG00000166997 Cnpy4 (MGI:1913705)
chr7 100159241 100168749 7q22 7q22.1 608235 GAL3ST4 Galactose-3-O-sulfotransferase 4 GAL3ST4 79690 ENSG00000197093 Gal3st4 (MGI:1916254)
chr7 100177562 100219333 7q22 7q22.1 608489 STAG3, POF8 Stromalin 3 STAG3 10734 ENSG00000066923 Premature ovarian failure 8, 615723 (3), Autosomal recessive Stag3 (MGI:1355311)
chr7 100218624 100221488 7q22.1 7q22.1 617012 PVRIG, CD112R, C7orf15 Poliovirus receptor-related immunoglobulin domain-containing protein PVRIG 79037 ENSG00000213413 Pvrig (MGI:5596028)
chr7 100306797 100322195 7q22.1 7q22.1 617625 SPDYE3, SPDYB2 SPEEDY/RINGO cell cycle regulator family, member E3 SPDYE3 441272 ENSG00000214300
chr7 100320639 100336306 7q22.1 7q22.1 605038 PMS2P1, PMS2L1, PMS3 Postmeiotic segregation increased 2 pseudogene 1 PMS2P1 5379
chr7 100358002 100367830 7q22 7q22.1 605342 PILRB Paired immunoglobulin-like receptor, beta PILRB 29990 ENSG00000121716 Pilrb1,Pilrb2 (MGI:2450532,MGI:2450535)
chr7 100372658 100400098 7q22 7q22.1 605341 PILRA Paired immunoglobulin-like receptor, alpha PILRA 29992 ENSG00000085514 Pilra (MGI:2450529)
chr7 100428789 100434125 7q22 7q22.1 611478 MEPCE, BCDIN3 Methylphosphate capping enzyme MEPCE 56257 ENSG00000146834 Mepce (MGI:106477)
chr7 100466518 100479278 7p21-p15 7q22.1 611914 TSC22D4, THG1 TSC22 domain family, member 4 TSC22D4 81628 ENSG00000166925 Tsc22d4 (MGI:1926079)
chr7 100483926 100494801 7q22.1 7q22.1 615477 NYPA1 Neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1 NYAP1 222950 ENSG00000166924 Nyap1 (MGI:2443880)
chr7 100539210 100568219 7q22.1 7q22.1 604019 AGFG2, HRBL, RABR ADP-ribosylation factor GTPase-activating protein with FG repeats 2 AGFG2 3268 ENSG00000106351 Agfg2 (MGI:2443267)
chr7 100574034 100574732 7q22 7q22.1 617677 ZASP ZO2-associated speckle protein 101927655
chr7 100582489 100601116 7q22 7q22.1 609097 FBXO24, FBX24 F-box only protein 24 FBXO24 26261 ENSG00000106336 Fbxo24 (MGI:1918426)
chr7 100602258 100608174 7q21.3-q22 7q22.1 600270 PCOLCE Procollagen C-endopeptidase enhancer PCOLCE 5118 ENSG00000106333 Pcolce (MGI:105099)
chr7 100620415 100642779 7q22 7q22.1 604720 TFR2, HFE3 Transferrin receptor 2 TFR2 7036 ENSG00000106327 Hemochromatosis, type 3, 604250 (3), Autosomal recessive Tfr2 (MGI:1354956)
chr7 100643096 100656460 7q22 7q22.1 612458 ACTL6B, BAF53B Actin-like 6B ACTL6B 51412 ENSG00000077080 Actl6b (MGI:1933548)
chr7 100673739 100679168 7q21 7q22.1 139390 GNB2 Guanine nucleotide-binding protein, beta polypeptide-2 GNB2 2783 ENSG00000172354 30-70kb from EPO Gnb2 (MGI:95784)
chr7 100679505 100694279 7q22.1 7q22.1 612064 GIGYF1 GRB10-interacting GYF protein 1 GIGYF1 64599 ENSG00000146830 Gigyf1 (MGI:1888677)
chr7 100706052 100707499 7q22 7q22.1 606113 POP7, RPP20 Processing of precursor 7, S. cerevisiae, homolog of POP7 10248 ENSG00000172336 Pop7 (MGI:1921347)
chr7 100720799 100723699 7q21 7q22.1 133170 EPO, MVCD2, ECYT5, DBAL Erythropoietin EPO 2056 ENSG00000130427 mutation identified in 1 DBAL family ?Diamond-Blackfan anemia-like, 617911 (3), Autosomal recessive; Erythrocytosis, familial, 5, 617907 (3), Autosomal dominant; {Microvascular complications of diabetes 2}, 612623 (3) Epo (MGI:95407)
chr7 100733598 100797796 7q22 7q22.1 602372 ZAN Zonadhesin ZAN 7455 ENSG00000146839 Zan (MGI:106656)
chr7 100802564 100827520 7q22 7q22.1 600011 EPHB4, HTK, MYK1, HFASD Ephrin receptor EphB4 (hepatoma transmembrane kinase) EPHB4 2050 ENSG00000196411 {Hydrops fetalis, nonimmune, and/or atrial septal defect}, 617300 (3), Autosomal dominant Ephb4 (MGI:104757)
chr7 100826873 100867011 7q22 7q22.1 616861 SLC12A9, CIP1, CCC6 Solute carrier family 12 (potassium/chloride transporter), member 9 SLC12A9 56996 ENSG00000146828 Slc12a9 (MGI:1933532)
chr7 100867327 100873453 7q22 7q22.1 602933 TRIP6, OIP1 Thyroid hormone receptor interactor-6 TRIP6 7205 ENSG00000087077 Trip6 (MGI:1343458)
chr7 100874970 100888663 7q22 7q22.1 614469 SRRT, ARS2 Serrate RNA effector molecule, arabidopsis, homolog of SRRT 51593 ENSG00000087087 Srrt (MGI:1933527)
chr7 100888722 100889717 7q22.1 7q22.1 611481 UFSP1 UFM1-specific protease 1 UFSP1 402682 ENSG00000176125 Ufsp1 (MGI:1917490)
chr7 100889993 100896132 7q22 7q22.1 100740 ACHE, YT Acetylcholinesterase (YT blood group) ACHE 43 ENSG00000087085 blood group YT (112100) = epitope of ACHE [Blood group, Yt system], 112100 (3) Ache (MGI:87876)
chr7 100949053 100968346 7q22 7q22.1 158371 MUC3A Mucin 3A, intestinal MUC3A 4584 ENSG00000169894 Muc3a (MGI:3588263)
chr7 100969622 101018948 7q22 7q22.1 604609 MUC12, MUC11 Mucin 12 MUC12 10071 ENSG00000205277
chr7 101020082 101058858 7q22 7q22.1 608424 MUC17 Mucin 17 MUC17 140453 ENSG00000169876
chr7 101085423 101091741 7q22.1 7q22.1 616996 TRIM56 Tripartite motif-containing protein 56 TRIM56 81844 ENSG00000169871 Trim56 (MGI:2685298)
chr7 101127088 101139265 7q21.3-q22 7q22.1 173360 PAI1, PLANH1, SERPINE1 Plasminogen activator inhibitor, type I SERPINE1 5054 ENSG00000106366 Plasminogen activator inhibitor-1 deficiency, 613329 (3), Autosomal recessive, Autosomal dominant; {Transcription of plasminogen activator inhibitor, modulator of} (3) Serpine1 (MGI:97608)
chr7 101154397 101161276 7q22.1 7q22.1 603531 AP1S1, CLAPS1, AP19, MEDNIK Adaptor-related protein complex 1, sigma 1 subunit AP1S1 1174 ENSG00000106367 MEDNIK syndrome, 609313 (3), Autosomal recessive Ap1s1 (MGI:1098244)
chr7 101162508 101169955 7q22 7q22.1 602186 VGF VGF nerve growth factor inducible VGF 7425 ENSG00000128564 Vgf (MGI:1343180)
chr7 101170492 101180275 7q22.1 7q22.1 615783 NAT16 N-acetyltransferase 16 NAT16 375607 ENSG00000167011
chr7 101192885 101201130 7q22.1 7q22.1 610184 MOGAT3, MGAT3 Monoacylglycerol O-acyltransferase 3 MOGAT3 346606 ENSG00000106384
chr7 101205976 101217729 7q22 7q22.1 603066 PLOD3, LH3 Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (lysyl hydroxylase 3) PLOD3 8985 ENSG00000106397 previously assigned to 7q36 Lysyl hydroxylase 3 deficiency, 612394 (3), Autosomal recessive Plod3 (MGI:1347008)
chr7 101232091 101238819 7q22.1 7q22.1 615778 CLDN15 Claudin 15 CLDN15 24146 ENSG00000106404 Cldn15 (MGI:1913103)
chr7 101239611 101245089 7q22.1 7q22.1 609003 TTC11, FIS1 Tetratricopeptide repeat domain 11 FIS1 51024 ENSG00000214253 Fis1 (MGI:1913687)
chr7 101613324 101629295 7q22.1 7q22.1 617177 MYL10, PLRLC Myosin light chain 10 MYL10 93408 ENSG00000106436 Myl10 (MGI:1891705)
chr7 101815903 102283957 7q22 7q22.1 116896 CUTL1, CDP Cut, Drosophila, homolog of (CCAAT displacement protein) CUX1 1523 ENSG00000257923
chr7 102284524 102321710 7q22 7q22.1 605300 APS Adaptor protein containing PH and SH2 domains SH2B2 10603 ENSG00000160999 Sh2b2 (MGI:1345171)
chr7 102396356 102426681 7q22.1 7q22.1 617458 PRKRIP1, C114 PRKR-interacting protein 1, IL11-inducible PRKRIP1 79706 ENSG00000128563 Prkrip1 (MGI:1914051)
chr7 102433529 102456820 7q22.1 7q22.1 610929 ORAI2, MEM142B, C7orf19 ORAI calcium release-activated calcium modulator 2 ORAI2 80228 ENSG00000160991 Orai2 (MGI:2443195)
chr7 102456219 102464873 7q22.1 7q22.1 613302 ALKBH4, ABH4 AlkB, E. coli, homolog of, 4 ALKBH4 54784 ENSG00000160993 Alkbh4 (MGI:1919291)
chr7 102464882 102473167 7q22.1 7q22.1 615167 LRWD1, ORCA Leucine-rich repeats- and WD repeat domain-containing protein 1 LRWD1 222229 ENSG00000161036 Lrwd1 (MGI:1918985)
chr7 102473099 102478933 7q22-q31.1 7q22.1 604150 POLR2J Polymerase II, RNA, subunit J POLR2J 5439 ENSG00000005075 Polr2j (MGI:109582)
chr7 102579645 102616757 7q22 7q22.1 607943 RASA4, CAPRI, GAPL, KIAA0538 Ras p21 protein activator 4 RASA4 10156 ENSG00000105808 Rasa4 (MGI:1858600)
chr7 102636747 102671728 7q11.2 7q22.1 609881 POLR2J2, RPB11 RNA polymerase II polypeptide J-related gene POLR2J2 246721 ENSG00000228049
chr7 102810965 103075215 7q22.1 7q22.1 609080 EBXL13, FBL13 F-box and leucine-rich repeat protein 13 FBXL13 222235 ENSG00000161040 Fbxl13 (MGI:2443416)
chr7 102973436 102978666 7q22.1 7q22.1 612133 NFE4 Transcription factor NFE4 NFE4 58160 ENSG00000230257
chr7 103074880 103099772 7q11.2 7q22.1 611864 ARMC10, SVH Armadillo repeat-containing 10 ARMC10 83787 ENSG00000170632 Armc10 (MGI:1914461)
chr7 103099575 103149559 7q22.1 7q22.1 612334 NAPEPLD N-acyl phosphatidylethanolamine-hydrolyzing phospholipase D NAPEPLD 222236 ENSG00000161048 Napepld (MGI:2140885)
chr7 103297425 103329901 7q22-q31.1 7q22.1 603131 MPPB Mitochondrial processing peptidase-beta PMPCB 9512 ENSG00000105819 Pmpcb (MGI:1920328)
chr7 103312473 103344872 7q22 7q22.1 605502 DNAJC2, ZRF1, MPP11 DnaJ (Hsp40) homolog, subfamily C, member 2 DNAJC2 27000 ENSG00000105821 Dnajc2 (MGI:99470)
chr7 103344404 103369394 7q22.1-q22.3 7q22.1 154365 PSMC2, MSS1, S7 Proteasome 26S subunit, ATPase, 2 PSMC2 5701 ENSG00000161057 Psmc2 (MGI:109555)
chr7 103352597 103446176 7q22.1 7q22.1 604943 SLC26A5, PRES, DFNB61 Solute carrier family 26, member 5 SLC26A5 375611 ENSG00000170615 mutation identified in 1 DFNB61 family ?Deafness, autosomal recessive 61, 613865 (3), Autosomal recessive Slc26a5 (MGI:1933154)
chr7 103471783 103989515 7q22 7q22.1 600514 RELN, RL, LIS2, ETL7 Reelin RELN 5649 ENSG00000189056 {Epilepsy, familial temporal lobe, 7}, 616436 (3), Autosomal dominant; Lissencephaly 2 (Norman-Roberts type), 257320 (3), Autosomal recessive Reln (MGI:103022)
chr7 104126340 104208046 7q22.1 7q22.1-q22.2 602331 ORC5, ORC5L Origin recognition complex, subunit 5, S. cerevisiae, homolog of ORC5 5001 ENSG00000164815 Orc5 (MGI:1347044)
chr7 104328655 104908557 7q22.1 7q22.2-q22.3 609719 LHFPL3 LHFP-like protein 3 LHFPL3 375612 Lhfpl3 (MGI:1925076)
chr7 104900000 115000000 7q22.3-q31.1 609915 CMD1Q Cardiomyopathy, dilated, 1Q CMD1Q 664728 between D7S2545 and D7S2554 Cardiomyopathy, dilated, 1Q, 609915 (2)
chr7 104900000 107800000 7q22.3 614646 MPVQTL6 Mean platelet volume quantitative trait locus 6 100887751 associated with rs342293 Mean platelet volume QTL6, 614646 (2)
chr7 104940948 105114084 7q22 7q22.3 608444 KMT2E, MLL5 Lysine (K)-specific methyltransferase 2E KMT2E 55904 ENSG00000005483 Kmt2e (MGI:1924825)
chr7 105456500 105522257 7q22.3 7q22.3 616261 PUS7, KIAA1897 Pseudouridylate synthase 7, putative PUS7 54517 ENSG00000091127 Pus7 (MGI:1925947)
chr7 105532080 105567683 7q22.3 7q22.3 610089 RINT1 RAD50-interacting protein 1 RINT1 60561 ENSG00000135249 Rint1 (MGI:1916233)
chr7 105876749 106036430 7q22.3 7q22.3 615610 CDHR3 Cadherin-related family, member 3 CDHR3 222256 ENSG00000128536 Cdhr3 (MGI:1916014)
chr7 106090367 106112646 7q22.3 7q22.3 616665 SYPL1, SYPL Synaptophysin-like 1 SYPL1 6856 ENSG00000008282 Sypl (MGI:108081)
chr7 106248284 106285191 7q22.2 7q22.3 608764 NAMPT, PBEF1, VF, PBEF Nicotinamide phosphoribosyltransferase NAMPT 10135 ENSG00000105835 Nampt (MGI:1929865)
chr7 106865277 106908977 7q22 7q22.3 601232 PIK3CG Phosphatidylinositol 3-kinase, catalytic, gamma PIK3CG 5294 ENSG00000105851 Pik3cg (MGI:1353576)
chr7 107044727 107161810 7q22 7q22.3 176912 PRKAR2B Protein kinase, cAMP-dependent, regulatory, type II, beta PRKAR2B 5577 ENSG00000005249 Prkar2b (MGI:97760)
chr7 107168960 107202528 7q22.3 7q22.3 616714 HBP1 HMG-box transcription factor 1 HBP1 26959 ENSG00000105856 Hbp1 (MGI:894659)
chr7 107201743 107564513 7q31 7q22.3 606821 COG5, GOLTC1, GTC90, CDG2I Component of oligomeric golgi complex 5 COG5 10466 ENSG00000164597 Congenital disorder of glycosylation, type IIi, 613612 (3) Cog5 (MGI:2145130)
chr7 107470056 107476206 7q22-q31.1 7q22.3 601910 GPR22 G protein-coupled receptor-22 GPR22 2845 ENSG00000172209 Gpr22 (MGI:1920260)
chr7 107660634 107717808 7q31 7q22.3 605646 SLC26A4, PDS, DFNB4, EVA, TDH2B Solute carrier family 26 (sulfate transporter), member 4 SLC26A4 5172 ENSG00000091137 some patients have digenic mutations with FOXI1 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3), Autosomal recessive; Pendred syndrome, 274600 (3), Autosomal recessive Slc26a4 (MGI:1346029)
chr7 107743696 107764996 7q22.3 7q22.3 606872 CBLL1, HAKAI, RNF188 Cas-Br-M murine ectopic retroviral transforming sequence like-1 CBLL1 79872 ENSG00000105879 Cbll1 (MGI:2144842)
chr7 107765466 107803232 7q22-q31.1 7q22.3-q31.1 126650 SLC26A3, DRA, CLD Solute carrier family 26 (sulfate transporter), member 3 SLC26A3 1811 ENSG00000091138 5' and close to PDS Diarrhea 1, secretory chloride, congenital, 214700 (3), Autosomal recessive Slc26a3 (MGI:107181)
chr7 107800000 127500000 7q31 611015 AUTS9 Autism, susceptibility to, 9 max lod near D7S530 {Autism, susceptibility to, 9}, 611015 (2)
chr7 107800000 127500000 7q31 603678 DFNB14 Deafness, autosomal recessive 14 DFNB14 1706 ?same as DFNB17 Deafness, autosomal recessive 14, 603678 (2), Autosomal recessive
chr7 107800000 127500000 7q31 603010 DFNB17 Deafness, autosomal recessive 17 DFNB17 1709 Deafness, autosomal recessive 17, 603010 (2), Autosomal recessive
chr7 107891106 107921197 7q31-q32 7q31.1 238331 DLD, LAD, PHE3, DLDD Dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex) DLD 1738 ENSG00000091140 Dihydrolipoamide dehydrogenase deficiency, 246900 (3), Autosomal recessive Dld (MGI:107450)
chr7 107923798 108003358 7q31.1-q31.3 7q31.1 150240 LAMB1, LIS5 Laminin, beta-1 LAMB1 3912 ENSG00000091136 Lissencephaly 5, 615191 (3), Autosomal recessive Lamb1 (MGI:96743)
chr7 108011661 108130355 7q31.1 7q31.1 616380 LAMB4 Laminin, beta-4 LAMB4 22798 ENSG00000091128
chr7 108147625 108456441 7q31.1-q31.2 7q31.1 601581 NRCAM Neuronal cell adhesion molecule NRCAM 4897 ENSG00000091129 Nrcam (MGI:104750)
chr7 108470421 108528160 7q31 7q31.1 612123 PNPLA8, MMLA Patatin-like phospholipase domain-containing protein 8 PNPLA8 50640 ENSG00000135241 mutation identified in 1 MMLA family ?Mitochondrial myopathy with lactic acidosis, 251950 (3), Autosomal recessive Pnpla8 (MGI:1914702)
chr7 108562143 108569767 7q31.1 7q31.1 612534 THAP5 THAP domain-containing protein 5 THAP5 168451 ENSG00000177683
chr7 108569744 108574849 7q31.1 7q31.1 602634 DNAJB9, MDG1 DnaJ, E. coli, homolog of, subfamily B, member 9 (microvascular endothelial differentiation gene-1) DNAJB9 4189 ENSG00000128590 previously assigned to chr.14 by FISH Dnajb9 (MGI:1351618)
chr7 110662644 111562530 7q31 7q31.1 605977 IMMP2L, IMP2 Inner mitochondrial membrane peptidase, subunit 2, S. cerevisiae, homolog of IMMP2L 83943 ENSG00000184903 Immp2l (MGI:2135611)
chr7 111726107 112206406 7q31 7q31.1 607679 DOCK4, KIAA0716 Dedicator of cytokinesis 4 DOCK4 9732 ENSG00000128512 Dock4 (MGI:1918006)
chr7 112206587 112343933 7q31.1 7q31.1 605465 ZNF277 Zinc finger protein-277 ZNF277 11179 ENSG00000198839 Zfp277 (MGI:1890393)
chr7 112423143 112477939 7q22-q31 7q31.1 603502 IFRD1 Interferon-related developmental regulator 1 IFRD1 3475 ENSG00000006652 Ifrd1 (MGI:1316717)
chr7 112819146 112939876 7q31.1 7q31.1 617855 BMT2, SAMTOR, C7orf60 Base methyltransferase of 25S rRNA 2, S. cerevisiae, homolog of BMT2 154743 ENSG00000164603 Bmt2 (MGI:2141466)
chr7 113080412 113087777 7q31 7q31.1 605188 GPR85, SREB2 G protein-coupled receptor-85 GPR85 54329 ENSG00000164604 Gpr85 (MGI:1927851)
chr7 113876826 113919093 7q11.23-q21.11 7q31.1 600917 PPP1R3A, PPP1R3 Protein phosphatase 1, regulatory subunit 3A PPP1R3A 5506 ENSG00000154415 Insulin resistance, severe, digenic, 125853 (3), Autosomal dominant Ppp1r3a (MGI:2153588)
chr7 114086309 114693771 7q31 7q31.1 605317 FOXP2, SPCH1, TNRC10, CAGH44 Forkhead box P2 FOXP2 93986 ENSG00000128573 Speech-language disorder-1, 602081 (3), Autosomal dominant
chr7 114922153 115019915 7q31.1 7q31.1-q31.2 614511 MDFIC, HIC MYOD family inhibitor domain-containing protein MDFIC 29969 ENSG00000135272 Mdfic (MGI:104611)
chr7 115935147 116159890 7q31.2 7q31.2 604732 TFEC, TFECL Transcription factor EC TFEC 22797 ENSG00000105967 Tfec (MGI:1333760)
chr7 116210492 116258785 7q31.2 7q31.2 606085 TES Testin TES 26136 ENSG00000135269 Tes (MGI:105081)
chr7 116499600 116508540 7q31.1 7q31.2 601048 CAV2 Caveolin-2 CAV2 858 ENSG00000105971 Cav2 (MGI:107571)
chr7 116524784 116561184 7q31.1 7q31.2 601047 CAV1, BSCL3, CGL3, PPH3, LCCNS Caveolin-1 CAV1 857 ENSG00000105974 mutation identified in 1 CGL3 family; mutation identified in 1 LCCNS family ?Lipodystrophy, congenital generalized, type 3, 612526 (3); ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, 606721 (3), Autosomal dominant; Pulmonary hypertension, primary, 3, 615343 (3), Autosomal dominant Cav1 (MGI:102709)
chr7 116672358 116798385 7q31 7q31.2 164860 MET, DFNB97, OSFD Oncogene MET MET 4233 ENSG00000105976 mutation identified in 1 DFNB97 family ?Deafness, autosomal recessive 97, 616705 (3), Autosomal recessive; Hepatocellular carcinoma, childhood type, somatic, 114550 (3); {Osteofibrous dysplasia, susceptibility to}, 607278 (3), Autosomal dominant; Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3) Met (MGI:96969)
chr7 116862508 116919260 7q31.2-q31.3 7q31.2 601571 CAPZA2, CAPPA2 Capping protein (actin filament) muscle Z-line, alpha 2 CAPZA2 830 ENSG00000198898 Capza2 (MGI:106222)
chr7 116953326 117230022 7q31.1 7q31.2 600833 ST7, TSG7, RAY1, FAM4A1 Suppressor of tumorigenicity 7 (breast) ST7 7982 ENSG00000004866 St7 (MGI:1927450)
chr7 117276630 117323288 7q31 7q31.2 147870 WNT2, INT1L1 Wingless-type MMTV integration site family, member 2 WNT2 7472 ENSG00000105989 isolated by CMGT with MET Wnt2 (MGI:98954)
chr7 117363221 117427522 7q31.3 7q31.2 605797 ASZ1, ALP1, ANKL1, GASZ Ankyrin repeat, SAM, and basic leucine zipper domain-containing 1 ASZ1 136991 ENSG00000154438 Asz1 (MGI:1921318)
chr7 117479962 117668664 7q31.2 7q31.2 602421 CFTR, ABCC7, CF, MRP7 Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette, subfamily C, member 7) CFTR 1080 ENSG00000001626 distal and 5' to MET {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3), Autosomal dominant; Congenital bilateral absence of vas deferens, 277180 (3), Autosomal recessive; Cystic fibrosis, 219700 (3), Autosomal recessive; {Hypertrypsinemia, neonatal} (3); {Pancreatitis, hereditary}, 167800 (3), Autosomal dominant; Sweat chloride elevation without CF (3) Cftr (MGI:88388)
chr7 117700000 127500000 7q31.3 606256 STQTL2 Stature quantitative trait locus 2 192143 max lod at D7S195 {Stature QTL 2}, 606256 (2)
chr7 117710647 117873817 7q31 7q31.31 609772 CTTNBP2, CORTBP2, KIAA1758 Cortactin-binding protein 2 CTTNBP2 83992 ENSG00000077063 Cttnbp2 (MGI:1353467)
chr7 118184031 118204038 7q31.31 7q31.31 607288 LSM8 LSM8, S. cerevisiae, homolog of, U6 small nuclear RNA associated LSM8 51691 ENSG00000128534 Lsm8 (MGI:1923772)
chr7 118224657 118242730 7q31.3 7q31.31 610731 ANKRD7 Ankyrin repeat domain-containing protein 7 ANKRD7 56311 ENSG00000106013 Ankrd7 (MGI:1922446)
chr7 120273637 120750332 7q31 7q31.31 605410 KCND2, KIAA1044 Potassium voltage-gated channel, Shal-related subfamily, member 2 KCND2 3751 ENSG00000184408 Kcnd2 (MGI:102663)
chr7 120787319 120858336 7q31 7q31.31 613138 TSPAN12, NET2, EVR5 Tetraspanin 12 TSPAN12 23554 ENSG00000106025 Exudative vitreoretinopathy 5, 613310 (3), Autosomal dominant Tspan12 (MGI:1889818)
chr7 120950748 120975656 7q31 7q31.31 607493 ING3, P47ING3 Inhibitor of growth family, member 3 ING3 54556 ENSG00000071243 Ing3 (MGI:1919027)
chr7 121325366 121341103 7q31.3 7q31.31 606267 WNT16 Wingless-type MMTV integration site family, member 16 WNT16 51384 ENSG00000002745 Wnt16 (MGI:2136018)
chr7 121348850 121396368 7q31.3 7q31.31 608618 FAM3C Family with sequence similarity 3, member C FAM3C 10447 ENSG00000196937 Fam3c (MGI:107892)
chr7 121873104 122062035 7q31.3 7q31.32 176891 PTPRZ1, PTP18 Protein-tyrosine phosphatase, receptor-type, zeta-1, polypeptide PTPRZ1 5803 ENSG00000106278 {H. pylori infection, susceptibility to}, 600263 (1) Ptprz1 (MGI:97816)
chr7 122073543 122144289 7q31.3 7q31.32 605113 AASS Alpha-aminoadipic semialdehyde synthase AASS 10157 ENSG00000008311 Hyperlysinemia, 238700 (3), Autosomal recessive; Saccharopinuria, 268700 (1), Autosomal recessive Aass (MGI:1353573)
chr7 122300938 122311854 7q31.32 7q31.32 613301 FEZF1, FEZ, ZNF312B, HH22 FEZ family zinc finger protein 1 FEZF1 389549 ENSG00000128610 Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3), Autosomal recessive Fezf1 (MGI:1920441)
chr7 122318423 122886758 7q31.3 7q31.32 609978 CADPS2, KIAA1591 Calcium-dependent activator protein for secretion 2 CADPS2 93664 ENSG00000081803 Cadps2 (MGI:2443963)
chr7 122994704 122995699 7q31 7q31.32 604867 TAS2R16, T2R16 Taste receptor type 2, member 16 TAS2R16 50833 ENSG00000128519 {Alcohol dependence, susceptibility to}, 103780 (3), Multifactorial; [Beta-glycopyranoside tasting] (3) Tas2r118 (MGI:2681247)
chr7 123113489 123201835 7q31-q32 7q31.32 606193 SLC13A1, NAS1 Solute carrier family 13 (sodium/sulfate symporters), member 1 SLC13A1 6561 ENSG00000081800 Slc13a1 (MGI:1859937)
chr7 123536996 123601650 7q32 7q31.32 601677 NDUFA5, UQOR13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13) NDUFA5 4698 ENSG00000128609 Ndufa5 (MGI:1915452)
chr7 123655806 123664289 7q31.32 7q31.32 608006 LMOD2, CLMOD Leiomodin 2 LMOD2 442721 ENSG00000170807 Lmod2 (MGI:2135672)
chr7 123681926 123749070 7q31.3 7q31.32 605056 WASL, NWASP Wiskott-Aldrich syndrome gene-like WASL 8976 ENSG00000106299
chr7 123763707 123877480 7q31 7q31.32 604510 HYAL4 Hyaluronoglucosaminidase 4 HYAL4 23553 ENSG00000106302 Hyal4 (MGI:1924292)
chr7 123925231 123971409 7q31 7q31.32 600930 SPAM1 Sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) SPAM1 6677 ENSG00000106304 Hyal5 (MGI:1921718)
chr7 124743884 124766107 7q31 7q31.33 602583 GPR37 G protein-coupled receptor-37 GPR37 2861 ENSG00000170775 Gpr37 (MGI:1313297)
chr7 124822385 124929982 7q31.33 7q31.33 606478 POT1, CMM10, GLM9 Protection of telomeres 1 POT1 25913 ENSG00000128513 {Glioma susceptibility 9}, 616568 (3), Autosomal dominant; {Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3), Autosomal dominant Pot1a (MGI:2141503)
chr7 126438597 127253292 7q31.3-q32.1 7q31.33 601116 GRM8 Glutamate receptor, metabotropic-8 GRM8 2918 ENSG00000179603 Grm8 (MGI:1351345)
chr7 127500000 132900000 7q32 613063 BCC6 Basal cell carcinoma, susceptibility to, 6 100307123 associated with rs157935 {Basal cell carcinoma, susceptibility to, 6}, 613063 (2)
chr7 127500000 132900000 7q32 600676 CATR1 CATR tumorigenic conversion 1 CATR1 856
chr7 127500000 132900000 7q32 614220 PBC4 Biliary cirrhosis, primary, 4 100689215 associated with rs10488631 Biliary cirrhosis, primary, 4, 614220 (2)
chr7 127500000 132900000 7q32 609573 PPR3 Photoparoxysmal response 3 619471 max lod at D7S1804 Photoparoxysmal response 3, 609573 (2)
chr7 127500000 138500000 7q32-q33 613909 SCA32 Spinocerebellar ataxia 32 SCA32 100653368 between rs3847110 and rs2241728 Spinocerebellar ataxia 32, 613909 (2), Autosomal dominant
chr7 127580627 127585599 7q32.1 7q32.1 607418 GCC1, GCC88 GRIP and coiled-coil domains-containing protein 1 GCC1 79571 ENSG00000179562 Gcc1 (MGI:1921625)
chr7 127588351 127591704 7q31.3 7q32.1 103188 ARF5 ADP-ribosylation factor 5 ARF5 381 ENSG00000004059 Arf5 (MGI:99434)
chr7 127593634 127601796 7q31.3 7q32.1 615800 FSCN3 Fascin actin-bundling protein 3, testicular FSCN3 29999 ENSG00000106328 Fscn3 (MGI:1890386)
chr7 127610291 127618191 7q32 7q32.1 167413 PAX4, MODY9, KPD Paired box homeotic gene-4 PAX4 5078 ENSG00000106331 {Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3), Autosomal recessive, Autosomal dominant; Diabetes mellitus, type 2, 125853 (3), Autosomal dominant; Maturity-onset diabetes of the young, type IX, 612225 (3) Pax4 (MGI:97488)
chr7 127651988 128092608 7q31.3 7q32.1 602181 P100, SND1 EBNA-2 coactivator p100 SND1 27044 ENSG00000197157 Snd1 (MGI:1929266)
chr7 128027070 128032106 7q32.1 7q32.1 610486 LRRC4 Leucine-rich repeat-containing protein 4 LRRC4 64101 ENSG00000128594 Lrrc4 (MGI:2182081)
chr7 128241200 128257628 7q31.3 7q32.1 164160 LEP, OB, LEPD Leptin (murine obesity homolog) LEP 3952 ENSG00000174697 in mouse cen-Cola-2-Met-ob-Cpa-Tcrb-tel Obesity, morbid, due to leptin deficiency, 614962 (3), Autosomal recessive Lep (MGI:104663)
chr7 128304172 128343914 7q32.1 7q32.1 612074 RBM28, ANES RNA-binding motif protein 28 RBM28 55131 ENSG00000106344 mutation identified in 1 ANES family ?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3), Autosomal recessive Rbm28 (MGI:2655711)
chr7 128392276 128409988 7q31.3-q32 7q32.1 146690 IMPDH1, RP10, LCA11 Inosine-5'-monophosphate dehydrogenase, type I IMPDH1 3614 ENSG00000106348 pseudogene on 16p13.13 Leber congenital amaurosis 11, 613837 (3); Retinitis pigmentosa 10, 180105 (3), Autosomal dominant Impdh1 (MGI:96567)
chr7 128455829 128458417 7q32.1 7q32.1 617905 HILPDA, HIG2 Hypoxia-inducible lipid droplet-associated protein HILPDA 29923 ENSG00000135245 Hilpda (MGI:1916823)
chr7 128739291 128773422 7q32 7q32.1 603420 CALU Calumenin CALU 813 ENSG00000128595 Calu (MGI:1097158)
chr7 128772488 128775789 7q31.3-q32 7q32.1 613522 OPN1SW, BCP, CBT Blue cone pigment (opsin 1, short-wave-sensitive) OPN1SW 611 ENSG00000128617 Colorblindness, tritan, 190900 (3), Autosomal dominant Opn1sw (MGI:99438)
chr7 128790761 128822132 7q31-q32 7q32.1 611902 CCDC136, NAG6, KIAA1793 Coiled-coil domain-containing protein 136 CCDC136 64753 ENSG00000128596 Ccdc136 (MGI:1918128)
chr7 128830428 128859273 7q32 7q32.1 102565 FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5 Filamin C (actin-binding protein-280) FLNC 2318 ENSG00000128591 Cardiomyopathy, familial hypertrophic, 26 (3); Cardiomyopathy, familial restrictive 5, 617047 (3), Autosomal dominant; Myopathy, distal, 4, 614065 (3), Autosomal dominant; Myopathy, myofibrillar, 5, 609524 (3), Autosomal dominant Flnc (MGI:95557)
chr7 128870644 128910718 7q32.3 7q32.1 609344 KCP Kielin/chordin-like protein KCP 375616 ENSG00000135253 Kcp (MGI:2141640)
chr7 128937031 128950041 7q32 7q32.1 607218 IRF5, IBD14, SLEB10 Interferon regulatory factor 5 IRF5 3663 ENSG00000128604 {Inflammatory bowel disease 14}, 612245 (3); {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3) Irf5 (MGI:1350924)
chr7 128954179 129055172 7q32.1 7q32.1 610032 TNPO3, TRNSR, LGMD1F Transportin 3 TNPO3 23534 ENSG00000064419 Muscular dystrophy, limb-girdle, type 1F, 608423 (3), Autosomal dominant Tnpo3 (MGI:1196412)
chr7 129144715 129169693 7q32.1 7q32.1 610120 TSPAN33, PEN Tetraspanin 33 TSPAN33 340348 ENSG00000158457 Tspan33 (MGI:1919012)
chr7 129188871 129213547 7q31-q32 7q32.1 601500 SMOH, SMO, CRJS Smoothened, Drosophila, homolog of SMO 6608 ENSG00000128602 Basal cell carcinoma, somatic, 605462 (3); Curry-Jones syndrome, somatic mosaic, 601707 (3) Smo (MGI:108075)
chr7 129225013 129430210 7q32.1 7q32.1 616520 AHCYL2 Adenosylhomocysteinase-like 2 AHCYL2 23382 ENSG00000158467 Ahcyl2 (MGI:1921590)
chr7 129434432 129488398 7q32.1 7q32.1 617919 STRIP2, FAR11B, FAM40B Striatin-interacting protein 2 STRIP2 57464 ENSG00000128578 Strip2 (MGI:2444363)
chr7 129600000 152800000 7q32.2-q36.1 146450 HYSP3 Hypospadias 3, autosomal 100689211 between D7S2519 and D7S2442. Hypospadias 3, autosomal, 146450 (2), Autosomal dominant, Multifactorial
chr7 129611701 129757081 7q32 7q32.2 600879 NRF1 Nuclear respiratory factor 1 NRF1 4899 ENSG00000106459 earlier location = 7q31 Nrf1 (MGI:1332235)
chr7 129770382 129770491 7q32.2 7q32.2 611607 MIR182, MIRN182 Micro RNA 182 MIR182 406958
chr7 129774691 129774768 7q32.2 7q32.2 611606 MIR96, MIRN96, DFNA50 Micro RNA 96 MIR96 407053 Deafness, autosomal dominant 50, 613074 (3), Autosomal dominant
chr7 129774904 129775013 7q32.2 7q32.2 611608 MIR183, MIRN183 Micro RNA 183 MIR183 406959
chr7 129830731 129952959 7q32 7q32.2 601082 UBE2H, UBCH2, UBC8 Ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8) UBE2H 7328 ENSG00000186591 Ube2h (MGI:104632)
chr7 130070508 130135719 7q32.2 7q32.2 615152 KLHDC10, SLIM KELCH domain-containing protein 10 KLHDC10 23008 ENSG00000128607 Klhdc10 (MGI:1924038)
chr7 130266862 130289797 7q32 7q32.2 600688 CPA2 Carboxypeptidase A2, pancreatic CPA2 1358 ENSG00000158516 Cpa2 (MGI:3617840)
chr7 130293133 130324179 7q32 7q32.2 607635 CPA4, CPA3 Carboxypeptidase A4 CPA4 51200 ENSG00000128510 Cpa4 (MGI:1919041)
chr7 130380370 130388107 7q32-qter 7q32.2 114850 CPA1 Carboxypeptidase A CPA1 1357 ENSG00000091704 both CPA and TRY1 = serine proteases Cpa1 (MGI:88478)
chr7 130393770 130441209 7q32 7q32.2 610523 CEP41, TSGA14, JBTS15 Centrosomal protein, 41kD CEP41 95681 ENSG00000106477 Joubert syndrome 15, 614464 (3), Autosomal recessive Cep41 (MGI:1891414)
chr7 130486174 130506296 7q32 7q32.2 601029 MEST, PEG1 Mesoderm specific transcript, mouse, homolog of MEST 4232 ENSG00000106484 imprinted maternally Mest (MGI:96968)
chr7 130506237 130668757 7q32 7q32.2 604355 COPG2 Coatomer protein complex, subunit gamma-2 COPG2 26958 ENSG00000158623 Copg2 (MGI:1858683)
chr7 130543452 130546899 7q32 7q32.2 610581 COPG2IT1, CIT1 Coatomer protein complex, subunit gamma-2, intronic transcript 1 COPG2IT1 53844
chr7 130732553 130734032 7q32.2 7q32.2 609393 LKF14, BTEB5 Kruppel-like factor 14 KLF14 136259 ENSG00000266265 Klf14 (MGI:3577024)
chr7 130800000 132900000 7q32.3 606641 BMIQ1 Body mass index quantitative trait locus 1 BMIQ1 170815 max lod at D7S1804 [Body mass index QTL1], 606641 (2)
chr7 130876746 130876809 7q32.3 7q32.3 610782 MIR29A, MIRN29A Micro RNA 29A MIR29A 407021
chr7 130877458 130877538 7q32.3 7q32.3 610783 MIR29B1, MIRN29B1 Micro RNA 29B1 MIR29B1 407024
chr7 131110095 131496638 7q32 7q32.3 605623 MKLN1 Muskelin 1 MKLN1 4289 ENSG00000128585 Mkln1 (MGI:1351638)
chr7 131500261 131556616 7q32-q33 7q32.3 602632 PODXL, PCLP Podocalyxin-like PODXL 5420 ENSG00000128567
chr7 132123331 132648687 7q32.3 7q32.3 604280 PLXNA4 Plexin A4 PLXNA4 91584 ENSG00000221866 Plxna4 (MGI:2179061)
chr7 132784861 133082157 7q32.3-q33 7q32-q33 613748 CHCHD3 Coiled-coil-helix-coiled-coil-helix domain-containing protein 3 CHCHD3 54927 ENSG00000106554 Chchd3 (MGI:1913325)
chr7 133253066 134067136 7q31 7q33 608185 EXOC4, SEC8, KIAA1699 Exocyst complex component 4 EXOC4 60412 ENSG00000131558 Exoc4 (MGI:1096376)
chr7 134127351 134282474 7q33 7q33 616478 LRGUK Leucine-rich repeats- and guanylate kinase domain-containing protein LRGUK 136332 ENSG00000155530 Lrguk (MGI:1921604)
chr7 134289336 134320306 7q33 7q33 610923 SLC35B4 Solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 SLC35B4 84912 ENSG00000205060 Slc35b4 (MGI:1931249)
chr7 134442349 134459238 7q35 7q33 103880 AKR1B1, ALDR1 Aldo-keto reductase family 1, member B1 AKR1B1 231 ENSG00000085662 Akr1b3 (MGI:1353494)
chr7 134527591 134541413 7q33 7q33 604707 AKR1B10, ARL1 Aldo-keto reductase family 1, member B10 AKR1B10 57016 ENSG00000198074 Akr1b8 (MGI:107673)
chr7 134549096 134579842 7q33 7q33 616336 AKR1B15, AKR1B10L, AKR1R1B7 Aldo-keto reductase family 1, member B15 AKR1B15 441282 ENSG00000227471
chr7 134646778 134679815 7q31-q34 7q33 613896 BPGM 2,3-bisphosphoglycerate mutase BPGM 669 ENSG00000172331 Erythrocytosis due to bisphosphoglycerate mutase deficiency, 222800 (3), Autosomal recessive Bpgm (MGI:1098242)
chr7 134779412 134970728 7q33 7q33 114213 CALD1, CDM Caldesmon-1 CALD1 800 ENSG00000122786
chr7 134986138 135135781 7q33 7q33 617346 AGBL3, CCP3 ATP/GTP-binding protein-like 3 AGBL3 340351 ENSG00000146856 Agbl3 (MGI:1923473)
chr7 135092302 135170825 7q33 7q33 616980 C7orf49, MRI Chromosome 7 open reading frame 49 CYREN 78996 ENSG00000122783 3110062M04Rik (MGI:1925662)
chr7 135183837 135211563 7q33 7q33 616303 WDR91, SORF1 WD repeat-containing protein 91 WDR91 29062 ENSG00000105875 Wdr91 (MGI:2141558)
chr7 135231978 135258660 7q31 7q33 609987 STRA8 Stimulated by retinoic acid 8, mouse, homolog of STRA8 346673 ENSG00000146857 Stra8 (MGI:107917)
chr7 135361794 135510126 7q22-qter 7q33 604911 CNOT4, NOT4 CCR4-NOT transcription complex, subunit 4 CNOT4 4850 ENSG00000080802 Cnot4 (MGI:1859026)
chr7 135557913 135648752 7q33 7q33 614352 NUP205, C7orf14, KIAA0225, NPHS13 Nucleoporin, 205kD NUP205 23165 ENSG00000155561 mutation identified in 1 NPHS13 family ?Nephrotic syndrome, type 13, 616893 (3) Nup205 (MGI:2141625)
chr7 135681236 135728203 7q33 7q33 604309 SLC13A4, SUT1 Solute carrier family 13 (sodium/sulfate symporters), member 4 (sulfate transporter 1) SLC13A4 26266 ENSG00000164707 Slc13a4 (MGI:2442367)
chr7 135926754 135977455 7q33 7q33 611050 LUZP6, MPD6 Leucine zipper protein 6 LUZP6 767558 ENSG00000267697
chr7 135926754 135977455 7q33-q35 7q33 606484 MTPN Myotrophin MTPN 136319 ENSG00000105887 Mtpn (MGI:99445)
chr7 136868636 137020254 7q35-q36 7q33 118493 CHRM2 Cholinergic receptor, muscarinic, 2 CHRM2 1129 ENSG00000181072 Chrm2 (MGI:88397)
chr7 136903166 136903293 7q33 7q33 616972 MIR490 Micro RNA 490 MIR490 574443
chr7 137227340 137343989 7q33 7q33 162095 PTN, NEGF1 Pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1) PTN 5764 ENSG00000105894 Ptn (MGI:97804)
chr7 137384400 137846863 7q32.3-q33 7q33 604072 DGKI Diacylglycerol kinase, iota, 130-kD DGKI 9162 ENSG00000157680 Dgki (MGI:2443430)
chr7 137874978 138002100 7q33 7q33 608834 CREB3L2, BBF2H7 cAMP response element-binding protein 3-like 2 CREB3L2 64764 ENSG00000182158 Creb3l2 (MGI:2442695)
chr7 138076431 138118303 7q32-q33 7q33 604741 AKR1D1, SRD5B1, CBAS2 Bile acid synthesis defect, congenital, 2 AKR1D1 6718 ENSG00000122787 Bile acid synthesis defect, congenital, 2, 235555 (3), Autosomal recessive Akr1d1 (MGI:2384785)
chr7 138460333 138585587 7q32-q34 7q33-q34 603406 TRIM24, TIF1, TIF1A, PTC6 Tripartite motif-containing protein 24 (Transcriptional intermediary factor 1) TRIM24 8805 ENSG00000122779 fused with RET to form PTC6 Trim24 (MGI:109275)
chr7 138500000 159345973 7q34-q36 603098 DFNB13 Deafness, autosomal recessive 13 DFNB13 1705 Deafness, autosomal recessive 13, 603098 (2), Autosomal recessive
chr7 138500000 159345973 7q34-q36 182960 DHMN1 Neuronopathy, distal hereditary motor, type I between D7S2513 and D7S637 Neuronopathy, distal hereditary motor, type I, 182960 (2), Autosomal dominant
chr7 138500000 159345973 7q34-q36 605727 OTSC2 Otosclerosis 2 OTSC2 93999 Otosclerosis 2, 605727 (2)
chr7 138500000 143400000 7q34 615449 TRBJ@ T-cell receptor beta chain joining gene cluster
chr7 138500000 143400000 7q34 615446 TRBV@ T-cell receptor beta chain variable gene cluster
chr7 138591688 138701546 7q34 7q34 611700 SVOPL SV2-related protein-like SVOPL 136306 ENSG00000157703 Svopl (MGI:2444335)
chr7 138706293 138799838 7q33-q34 7q34 605239 ATP6V0A4, ATP6N1B, VPP2, RTA1C, RTADR ATPase, H+ transporting, lysosomal V0 subunit a isoform 4 ATP6V0A4 50617 ENSG00000105929 Renal tubular acidosis, distal, autosomal recessive, 602722 (3) Atp6v0a4 (MGI:2153480)
chr7 138831376 138981625 7q34 7q34 613344 KIAA1549 KIAA1549 gene KIAA1549 57670 ENSG00000122778 D630045J12Rik (MGI:2669829)
chr7 139043518 139109718 7q34 7q34 607312 ZC3HAV1, ZAP, FLJ13288, FLB6421 Zinc finger CCCH domain-containing antiviral protein 1 ZC3HAV1 56829 ENSG00000105939 Zc3hav1 (MGI:1926031)
chr7 139133743 139191985 7q34 7q34 617453 TTC26, IFT56 Tetratricopeptide repeat domain-containing protein 26 TTC26 79989 ENSG00000105948 Ttc26 (MGI:2444853)
chr7 139228407 139329420 7q34 7q34 613841 UBN2 Ubinuclein 2 UBN2 254048 ENSG00000157741 Ubn2 (MGI:2444236)
chr7 139340358 139423456 7q34 7q34 613056 LUC7L2 Luc7, S. cerevisiae, homolog of, 2 LUC7L2 51631 ENSG00000146963 Luc7l2 (MGI:2183260)
chr7 139561569 139777893 7q33-q34 7q34 606868 HIPK2 Homeodomain-interacting protein kinase 2 HIPK2 28996 ENSG00000064393 Hipk2 (MGI:1314872)
chr7 139778247 140020324 7q34 7q34 274180 TBXAS1, GHOSAL, CYP5, BDPLT14 Thromboxane A synthase 1, platelet TBXAS1 6916 ENSG00000059377 Ghosal hematodiaphyseal syndrome, 231095 (3), Autosomal recessive; ?Thromboxane synthase deficiency, 614158 (1), Autosomal dominant Tbxas1 (MGI:98497)
chr7 140023743 140063720 7q34 7q34 612481 PARP12, ZC3HDC1, FLJ22693 Poly(ADP-ribose) polymerase family, member 12 PARP12 64761 ENSG00000059378 Parp12 (MGI:2143990)
chr7 140719326 140924927 7q34 7q34 164757 BRAF, NS7 Murine sarcoma viral (v-raf) oncogene homolog B1 BRAF 673 ENSG00000157764 pseudogene BRAF2 on Xq13 or 7q Adenocarcinoma of lung, somatic, 211980 (3); Cardiofaciocutaneous syndrome, 115150 (3), Autosomal dominant; Colorectal cancer, somatic (3); LEOPARD syndrome 3, 613707 (3), Autosomal dominant; Melanoma, malignant, somatic (3); Nonsmall cell lung cancer, somatic (3); Noonan syndrome 7, 613706 (3), Autosomal dominant Braf (MGI:88190)
chr7 141006160 141014980 7q32-q34 7q34 611993 MRPS33 Mitochondrial ribosomal protein S33 MRPS33 51650 ENSG00000090263 4 pseudogenes Mrps33 (MGI:1338046)
chr7 141551277 141662152 7q34 7q34 610345 AGK, MULK, MTDPS10, CATC5, CTRCT38 Acylglycerol kinase AGK 55750 ENSG00000006530 Cataract 38, autosomal recessive, 614691 (3), Autosomal recessive; Sengers syndrome, 212350 (3), Autosomal recessive Agk (MGI:1917173)
chr7 141708352 141731270 7q34 7q34 614084 WEE2, WEE1B Wee1, S. pombe, homolog of, 2 WEE2 494551 ENSG00000214102 Wee2 (MGI:3027899)
chr7 141738320 141750487 7q34 7q34 600439 SSBP1, SSBP Single-stranded DNA-binding protein 1 SSBP1 6742 ENSG00000106028 Ssbp1 (MGI:1920040)
chr7 141764096 141765196 7q31.3-q32 7q34 604868 TAS2R3, T2R3 Taste receptor type 2, member 3 TAS2R3 50831 ENSG00000127362 Tas2r137 (MGI:3606604)
chr7 141778488 141779387 7q31.3-q32 7q34 604869 TAS2R4, T2R4 Taste receptor type 2, member 4 TAS2R4 50832 ENSG00000127364 Tas2r108 (MGI:2681210)
chr7 141790216 141791365 7q31.3-q32 7q34 605062 TAS2R5, T2R5 Taste receptor type 2, member 5 TAS2R5 54429 ENSG00000127366
chr7 141927355 141947008 7q33 7q34 604987 CLEC5A, CLECSF5, MDL1 C-type lectin domain family 5, member A CLEC5A 23601 ENSG00000258227 Clec5a (MGI:1345151)
chr7 141972630 141973772 7q34 7q34 607751 TAS2R38, T2R61, PTC Taste receptor, type 2, member 38 TAS2R38 5726 ENSG00000257138 [Phenylthiocarbamide tasting], 171200 (3), Autosomal dominant Tas2r138 (MGI:2681306)
chr7 141986516 142106746 7q34 7q34 154360 MGAM, MGA Maltase-glucoamylase MGAM 8972 ENSG00000257335 similar to EST GS1365 Mgam (MGI:1203495)
chr7 142740234 142753075 7q35 7q34 276000 PRSS1, TRY1 Protease, serine, 1 (trypsin 1) PRSS1 5644 ENSG00000204983 8 trypsinogen genes embedded in TCRB locus Pancreatitis, hereditary, 167800 (3), Autosomal dominant; Trypsinogen deficiency, 614044 (1), Autosomal recessive Try10 (MGI:3687012)
chr7 142770942 142774563 7q35 7q34 601564 PRSS2, TRY2 Protease, serine, 2 (trypsin 2) PRSS2 5645 ENSG00000275896 {Pancreatitis, chronic, protection against}, 167800 (3), Autosomal dominant Prss2 (MGI:102759)
chr7 142786212 142786223 7q34 7q34 615447 TRBD1 T-cell receptor beta chain diversity gene 1 TRBD1 28637
chr7 142791693 142793140 7q34 7q34 186930 TRBC1 T-cell receptor beta chain constant region 1 TRBC1 28639
chr7 142795704 142795719 7q34 7q34 615448 TRBD2 T-cell receptor beta chain diversity gene 2 TRBD2 28636
chr7 142801040 142802528 7q34 7q34 615445 TRBC2 T-cell receptor beta chain constant region 2 TRBC2 28638
chr7 142854638 142871092 7q33-q35 7q34 602757 EPHB6, HEP Ephrin receptor EPHB6 EPHB6 2051 ENSG00000106123 Ephb6 (MGI:1096338)
chr7 142871202 142885744 7q33-q34 7q34 606680 TRPV6, ECAC2, CAT1, CATL Transient receptor potential cation channel, subfamily V, member 6 TRPV6 55503 ENSG00000165125 Trpv6 (MGI:1927259)
chr7 142908100 142933722 7q35 7q34 606679 TRPV5, ECAC1, CAT2 Transient receptor potential cation channel, subfamily V, member 5 TRPV5 56302 ENSG00000127412 Trpv5 (MGI:2429764)
chr7 142941113 142962415 7q33 7q34 613883 KEL Kell blood group KEL 3792 ENSG00000197993 [Blood group, Kell], 110900 (3) Kel (MGI:1346053)
chr7 143132080 143139740 7q32-q36 7q34 176720 PIP Prolactin-inducible protein PIP 5304 ENSG00000159763 Pip (MGI:102696)
chr7 143222036 143223078 7q34 7q34 613964 TAS2R40, T2R40 Taste receptor, type 2, member 40 TAS2R40 259286 ENSG00000221937 Tas2r144 (MGI:2681312)
chr7 143263428 143269128 7q34 7q34 602321 GSTK1 Glutathione S-transferase, kappa-1 GSTK1 373156 ENSG00000197448 Gstk1 (MGI:1923513)
chr7 143284898 143288048 7q34 7q34 616524 TMEM139 Transmembrane protein 139 TMEM139 135932 ENSG00000178826 Tmem139 (MGI:1924444)
chr7 143288214 143307695 7q35 7q34 600639 CASP2, NEDD2, ICH1 Caspase 2, apoptosis-related cysteine protease (neural precursor cell expressed, developmentally down-regulated 2) CASP2 835 ENSG00000106144 Casp2 (MGI:97295)
chr7 143316125 143352007 7q35 7q34 118425 CLCN1 Chloride channel-1, skeletal muscle CLCN1 1180 ENSG00000188037 Myotonia congenita, dominant, 160800 (3), Autosomal dominant; Myotonia congenita, recessive, 255700 (3), Autosomal recessive; Myotonia levior, recessive (3) Clcn1 (MGI:88417)
chr7 143381226 143391110 7q34-q35 7q34 602002 ZYX Zyxin ZYX 7791 ENSG00000159840 Zyx (MGI:103072)
chr7 143390812 143408891 7q32-q36 7q34-q35 179610 EPHA1, EPHT1 eph tyrosine kinase 1 (erythropoietin-producing hepatoma amplified sequence; oncogene EPH; ephrin receptor EphA1) EPHA1 2041 ENSG00000146904 Epha1 (MGI:107381)
chr7 143400000 159345973 7q35-q36 157570 D7S437, MS3315 Minisatellite 33.15
chr7 143400000 159345973 7q35-q36 600510 GPDS1, PDS1 Glaucoma-related pigment dispersion syndrome-1 GPDS1 7986 Pigment dispersion syndrome, 600510 (2), Autosomal dominant
chr7 143400000 159345973 7q35-q36 612514 SLI4 Specific language impairment 4 100233227 associated with rs1723629 {Specific language impairment 4}, 612514 (2)
chr7 143443452 143444408 7q35 7q35 613968 TAS2R60, T2R60 Taste receptor, type 2, member 60 TAS2R60 338398 ENSG00000185899 Tas2r135 (MGI:2681302)
chr7 143477872 143478795 7q35 7q35 613965 TAS2R41, T2R59 Taste receptor, type 2, member 41 TAS2R41 259287 ENSG00000221855 Tas2r126 (MGI:2681273)
chr7 143620951 143730085 7q35 7q35 616252 TCAF2, FAM115C, FAM139A TRPM8 channel-associated factor 2 TCAF2 285966 ENSG00000170379 Tcaf2 (MGI:2385258)
chr7 143851367 143902197 7q35 7q35 616251 TCAF1, FAM115A, KIAA0738 TRPM8 channel-associated factor 1 TCAF1 9747 ENSG00000198420 Tcaf1 (MGI:1914665)
chr7 143907151 143988539 7q35 7q35 608497 OR2F1, OLF3 Olfactory receptor, family 2, subfamily F, member 1 OR2F1 26211 ENSG00000213215 Olfr453 (MGI:3030287)
chr7 144355395 144380631 7q33-q35 7q35 600888 ARHGEF5, TIM Rho guanine nucleotide exchange factor-5 (oncogene TIM) ARHGEF5 7984 ENSG00000050327 Arhgef5 (MGI:1858952)
chr7 144396804 144410421 7q35 7q35 610934 NOBOX, POF5 Newborn ovary homeobox, mouse, homolog of NOBOX 135935 ENSG00000106410 Premature ovarian failure 5, 611548 (3), Autosomal dominant Nobox (MGI:108011)
chr7 144451940 144836423 7q34 7q35 606370 TPK1, THMD5 Thiamine pyrophosphokinase TPK1 27010 ENSG00000196511 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3), Autosomal recessive Tpk1 (MGI:1352500)
chr7 146116206 148420997 7q35-q36 7q35-q36 604569 CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1 Contactin-associated protein-like 2 CNTNAP2 26047 ENSG00000174469 {Autism susceptibility 15}, 612100 (3); Cortical dysplasia-focal epilepsy syndrome, 610042 (3), Autosomal recessive; Pitt-Hopkins like syndrome 1, 610042 (3), Autosomal recessive Cntnap2 (MGI:1914047)
chr7 148200000 159345973 7q36 605967 ACRPS Acropectoral syndrome 85505 Acropectoral syndrome, 605967 (2), Autosomal dominant
chr7 148200000 159345973 7q36 609636 AD10 Alzheimer disease-10 780912 max lod with D7S798 Alzheimer disease-10, 609636 (2), Autosomal dominant
chr7 148200000 159345973 7q36 611016 AUTS10 Autism, susceptibility to, 10 max lod at D7S483 {Autism, susceptibility to, 10}, 611016 (2)
chr7 148698156 148801109 7q36.1 7q36.1 603134 CUL1 Cullin 1 CUL1 8454 ENSG00000055130 Cul1 (MGI:1349658)
chr7 148807371 148884348 7q35 7q36.1 601573 EZH2, EZH1, WVS Enhancer of zeste, Drosophila, homolog of, 2 EZH2 2146 ENSG00000106462 pseudogene on 21q22 Weaver syndrome, 277590 (3), Autosomal dominant Ezh2 (MGI:107940)
chr7 148941487 148941570 7q36 7q36.1 601824 RNY5, Y5 RNA, Y5 small cytoplasmic RNY5 6090
chr7 148963314 148963409 7q36 7q36.1 601823 RNY4, Y4 RNA, Y4 small cytoplasmic RNY4 6086
chr7 148983754 148983855 7q36 7q36.1 601822 RNY3, Y3 RNA, Y3 small cytoplasmic RNY3 6085
chr7 148987135 148987247 7q36 7q36.1 601821 RNY1, Y1 RNA, Y1 small cytoplasmic RNY1 6084
chr7 149195461 149226247 7q36.1 7q36.1 603397 ZNF282, HUB1 Zinc finger protein 282 ZNF282 8427 ENSG00000170265 Zfp282 (MGI:2141413)
chr7 149239650 149255608 7q36.1 7q36.1 602386 ZNF212, ZNFC150, ZNF182 Zinc finger protein 212 ZNF212 7988 ENSG00000170260 Zfp212 (MGI:2682609)
chr7 149472792 149497831 7q36.1 7q36.1 613914 ZNF746, PARIS Zinc finger protein 746 ZNF746 155061 ENSG00000181220 Zfp746 (MGI:1916478)
chr7 149764181 149776322 7q36.1 7q36.1 614040 ZNF467, EZI, ZFP467 Zinc finger protein 467 ZNF467 168544 ENSG00000181444 Zfp467 (MGI:1916160)
chr7 149776041 149833964 7q36.1 7q36.1 617356 SSPO Subcommissural organ spondin SSPO 23145 ENSG00000197558 Sspo (MGI:2674311)
chr7 149872967 149880712 7q36 7q36.1 611019 ATP6V0E2 ATPase, H+ transporting, lysosomal, 9kD, V- subunit E2 ATP6V0E2 155066 ENSG00000171130 Atp6v0e2 (MGI:1923502)
chr7 150041354 150045371 7q36.1 7q36.1 615171 LOC100134040 LOC100134040 gene 100134040
chr7 150329848 150332720 7q36.1 7q36.1 615252 ZBED6CL, C7orf29 ZBED6 C terminus-like protein ZBED6CL 113763 ENSG00000188707
chr7 150338317 150341684 7q36.1 7q36.1 601973 RARRES2, TIG2 Retinoic acid receptor responder 2 RARRES2 5919 ENSG00000106538 Rarres2 (MGI:1918910)
chr7 150450629 150479394 7q36.1 7q36.1 616962 GIMAP8 GTPase, IMAP family, member 8 GIMAP8 155038 ENSG00000171115 Gimap8 (MGI:2685303)
chr7 150514856 150521072 7q36.1 7q36.1 616961 GIMAP7 GTPase IMAP family, member 7 GIMAP7 168537 ENSG00000179144 Gimap7 (MGI:1349657)
chr7 150567369 150573954 7q36.1 7q36.1 608087 GIMAP4, IMAP4, IAN1 GTPase, IMAP family, member 4 GIMAP4 55303 ENSG00000133574 Gimap4 (MGI:1349656)
chr7 150625374 150632647 7q36.1 7q36.1 616960 GIMAP6 GTPase, IMAP family, member 6 GIMAP6 474344 ENSG00000133561 Gimap6 (MGI:1918876)
chr7 150685705 150693640 7q36.1 7q36.1 608085 GIMAP2, IMAP2 GTPase, IMAP family, member 2 GIMAP2 26157 ENSG00000106560
chr7 150716556 150724279 7q36.1 7q36.1 608084 GIMAP1, IMAP1 GTPase, IMAP family, member 1 GIMAP1 170575 ENSG00000213203 Gimap1 (MGI:109368)
chr7 150737347 150743648 7q36.1 7q36.1 608086 GIMAP5, IAN4L1, IMAP3 GTPase, IMAP family, member 5 GIMAP5 55340 ENSG00000196329
chr7 150791286 150801359 7q36.1 7q36.1 610385 LR8 LR8 protein TMEM176B 28959 ENSG00000106565 Tmem176b (MGI:1916348)
chr7 150800542 150805119 7q36.1 7q36.1 610334 TEM176A, HCA112, GS188 Transmembrane protein 176A TMEM176A 55365 ENSG00000002933 Tmem176a (MGI:1913308)
chr7 150824874 150861290 7q31-q32 7q36.1 104610 ABP1 Amiloride-binding protein-1 AOC1 26 ENSG00000002726 Aoc1 (MGI:1923757)
chr7 150944955 150978313 7q35-q36 7q36.1 152427 KCNH2, LQT2, HERG, SQT1 Potassium voltage-gated channel, subfamily H, member 2 (human ether-a-go-go-related gene) KCNH2 3757 ENSG00000055118 Long QT syndrome 2, 613688 (3), Autosomal dominant; {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3), Autosomal dominant; Short QT syndrome 1, 609620 (3) Kcnh2 (MGI:1341722)
chr7 150991055 151014598 7q36 7q36.1 163729 NOS3 Nitric oxide synthase 3, endothelial cell NOS3 4846 ENSG00000164867 {Alzheimer disease, late-onset, susceptibility to}, 104300 (3), Autosomal dominant; {Coronary artery spasm 1, susceptibility to} (3); {Hypertension, pregnancy-induced}, 189800 (3), Autosomal dominant; {Hypertension, susceptibility to}, 145500 (3), Multifactorial; {Ischemic stroke, susceptibility to}, 601367 (3), Multifactorial; {Placental abruption} (3) Nos3 (MGI:97362)
chr7 151012208 151028266 7q36.1 7q36.1 612205 ATG9B, NOS3AS, APG9L2, SONE Autophagy 9, S. cerevisiae, homolog of, B ATG9B 285973 ENSG00000181652 Atg9b (MGI:2685420)
chr7 151028421 151047781 7q35-q36 7q36.1 605464 ABCB8, MABC1 ATP-binding cassette, subfamily B, member 8 ABCB8 11194 ENSG00000197150 Abcb8 (MGI:1351667)
chr7 151048291 151052755 7q35 7q36.1 611741 ACCN3, ASIC3, TNAC1, DRASIC Cation channel, amiloride-sensitive, neuronal 3 ASIC3 9311 ENSG00000213199 Asic3 (MGI:2159339)
chr7 151053811 151057964 7q36 7q36.1 123831 CDK5, LIS7 Cyclin-dependent kinase 5 CDK5 1020 ENSG00000164885 mutation identified in 1 LIS7 family ?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3), Autosomal recessive Cdk5 (MGI:101765)
chr7 151058199 151076526 7q35-q36 7q36.1 109280 SLC4A2, AE2, EPB3L1 Solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) SLC4A2 6522 ENSG00000164889 Slc4a2 (MGI:109351)
chr7 151076620 151080882 7q35 7q36.1 606965 FASTK, FAST Fas-activated serine/threonine kinase FASTK 10922 ENSG00000164896 Fastk (MGI:1913837)
chr7 151081084 151083532 7q36.1 7q36.1 614792 TMUB1, DULP, SB144, C7orf21 Transmembrane and ubiquitin-like domain-containing protein 1 TMUB1 83590 ENSG00000164897 Tmub1 (MGI:1923764)
chr7 151085830 151144435 7q36.1 7q36.1 616813 AGAP3, CENTG3, CRAG ARF GTPase-activating protein with GTPase domain, ankyrin repeat, and pleckstrin homology domain 3 AGAP3 116988 ENSG00000133612 Agap3 (MGI:2183446)
chr7 151148008 151167547 7q36 7q36.1 603354 GBX1 Gastrulation brain homeobox 1 GBX1 2636 ENSG00000164900 Gbx1 (MGI:95667)
chr7 151175697 151187831 7q36.1 7q36.1 615054 ASB10, GLC1F Ankyrin repeat- and SOCS box-containing protein 10 ASB10 136371 ENSG00000146926 Glaucoma 1, open angle, F, 603383 (3) Asb10 (MGI:2152836)
chr7 151207836 151227373 7q36 7q36.1 612510 ABCF2, HUSSY18 ATP-binding cassette, subfamily F, member 2 ABCF2 10061 ENSG00000033050 Abcf2 (MGI:1351657)
chr7 151232488 151238826 7q36.1 7q36.1 608037 CHPF2, KIAA1402, CSGlcAT Chondroitin polymerizing factor 2 CHPF2 54480 ENSG00000033100 Chpf2 (MGI:1917522)
chr7 151238420 151238537 7q36.1 7q36.1 615245 MIR671 Micro RNA 671 MIR671 768213
chr7 151238972 151277451 7q35-q36 7q36.1 601737 SMARCD3, BAF60C SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 3 SMARCD3 6604 ENSG00000082014 Smarcd3 (MGI:1914243)
chr7 151341698 151378460 7q36.1 7q36.1 607981 NUB1 Negative regulator of ubiquitin-like proteins 1 NUB1 51667 ENSG00000013374 Nub1 (MGI:1889001)
chr7 151466011 151519923 7q36 7q36.1 601293 RHEB, RHEB2 Ras homolog enriched in brain RHEB 6009 ENSG00000106615 Rheb (MGI:97912)
chr7 151556113 151877230 7q36 7q36.1 602743 PRKAG2, WPWS, CMH6 Protein kinase, AMP-activated, noncatalytic, gamma-2 PRKAG2 51422 ENSG00000106617 Cardiomyopathy, hypertrophic 6, 600858 (3), Autosomal dominant; Glycogen storage disease of heart, lethal congenital, 261740 (3), Autosomal dominant; Wolff-Parkinson-White syndrome, 194200 (3), ?Autosomal dominant Prkag2 (MGI:1336153)
chr7 151956378 152019933 7q36.1 7q36.1 615133 GALNTL5, GALNACT19 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 GALNTL5 168391 ENSG00000106648 Galntl5 (MGI:1915159)
chr7 152025654 152122346 7q36.1 7q36.1 615130 GALNT11, GALNACT11 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 GALNT11 63917 ENSG00000178234 Galnt11 (MGI:2444392)
chr7 152134924 152436641 7q36 7q36.1 606833 KMT2C, MLL3, KIAA1506, KLEFS2 Lysine (K)-specific methyltransferase 2C KMT2C 58508 ENSG00000055609 Kleefstra syndrome 2, 617768 (3), Autosomal dominant Kmt2c (MGI:2444959)
chr7 152646497 152676164 7q36.1 7q36.1 600375 XRCC2, FANCU X-ray repair, complementing defective, repair in Chinese hamster cells-2 XRCC2 7516 ENSG00000196584 mutation identified in 1 FANCU patient ?Fanconi anemia, complementation group U, 617247 (3), Autosomal recessive Xrcc2 (MGI:1927345)
chr7 153747985 154894289 7q36.2 7q36.2 126141 DPP6, VF2, MRD33 Dipeptidylpeptidase VI DPP6 1804 ENSG00000130226 Mental retardation, autosomal dominant 33, 616311 (3); {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3), Autosomal dominant Dpp6 (MGI:94921)
chr7 154943689 155003418 7q36 7q36.2 608254 PAXIP1, PAXIP1L, PTIP PAX transcription activation domain-interacting protein 1 PAXIP1 22976 ENSG00000157212
chr7 155070323 155087391 7q36.1 7q36.2 601305 HTR5A 5-hydroxytryptamine (serotonin) receptor-5A HTR5A 3361 ENSG00000157219 Htr5a (MGI:96283)
chr7 155200000 159345973 7q36.3 613959 SCZD16, C16DUPq36.3, DUP7q36.3 Chromosome 7q36.3 duplication syndrome, 362kb 362kb duplication that includes VIPR2 Schizophrenia 16, 613959 (4)
chr7 155297771 155310234 7q36 7q36.3 602055 INSIG1 Insulin-induced gene 1 INSIG1 3638 ENSG00000186480 Insig1 (MGI:1916289)
chr7 155356987 155367932 7q36 7q36.3 608450 BLACE B-cell acute lymphoblastic leukemia-expressed gene BLACE 338436
chr7 155458128 155464830 7q36 7q36.3 131310 EN2 Engrailed-2 EN2 2020 ENSG00000164778 En2 (MGI:95390)
chr7 155501257 155533843 7q36.3 7q36.3 612493 CNPY1 Canopy 1, zebrafish, homolog of CNPY1 285888 ENSG00000146910 Cnpy1 (MGI:2442451)
chr7 155799983 155812272 7q36 7q36.3 600725 SHH, HPE3, HLP3, SMMCI, MCOPCB5 Sonic hedgehog SHH 6469 ENSG00000164690 separate from TPT1 Holoprosencephaly 3, 142945 (3), Autosomal dominant; Microphthalmia with coloboma 5, 611638 (3), Autosomal dominant; Schizencephaly, 269160 (3); Single median maxillary central incisor, 147250 (3), Autosomal dominant Shh (MGI:98297)
chr7 156472098 156640653 7q36 7q36.3 610242 C7orf13 Chromosome 7 open reading frame 13 LINC01006 100506380 overlaps RNF32 on the opposite strand
chr7 156640201 156678332 7q36 7q36.3 610241 RNF32 RING finger protein 32 RNF32 140545 ENSG00000105982 Rnf32 (MGI:1861747)
chr7 156669011 156893207 7q36 7q36.3 605522 LMBR1, ACHP, C7orf2, PPD2, THYP, LSS Limb region 1, mouse, homolog of LMBR1 64327 ENSG00000105983 Acheiropody, 200500 (3), Autosomal recessive; Hypoplastic or aplastic tibia with polydactyly, 188740 (3), Autosomal dominant; Laurin-Sandrow syndrome, 135750 (3), Autosomal dominant; Polydactyly, preaxial type II, 174500 (3), Autosomal dominant; Syndactyly, type IV, 186200 (3), Autosomal dominant; Triphalangeal thumb, type I, 174500 (3), Autosomal dominant; Triphalangeal thumb-polysyndactyly syndrome, 174500 (3), Autosomal dominant Lmbr1 (MGI:1861746)
chr7 156949721 156973181 7q36 7q36.3 611269 NOM1, C7orf3 Nucleolar protein with MIF4G domain 1 NOM1 64434 ENSG00000146909 Nom1 (MGI:1861749)
chr7 157004852 157010652 7q36 7q36.3 142994 MNX1, HLXB9, HOXHB9, SCRA1 Motor neuron and pancreas homeobox 1 MNX1 3110 ENSG00000130675 Currarino syndrome, 176450 (3), Autosomal dominant Mnx1 (MGI:109160)
chr7 157138951 157269371 7q36.3 7q36.3 614454 UBE3C, HECTH2, KIAA0010, KIAA10 Ubiquitin protein ligase E3C UBE3C 9690 ENSG00000009335 Ube3c (MGI:2140998)
chr7 157337003 157417438 7q36.3 7q36.3 611332 DNAJB6, MRJ, DJ4, LGMD1E DNAJ/HSP40 homolog, subfamily B, member 6 DNAJB6 10049 ENSG00000105993 previously assigned to 11q25 Muscular dystrophy, limb-girdle, type 1E, 603511 (3), Autosomal dominant Dnajb6 (MGI:1344381)
chr7 157539051 158587801 7q36 7q36.3 601698 PTPRN2, IAR, ICAAR Protein-tyrosine phosphatase, receptor-type, N, polypeptide 2 PTPRN2 5799 ENSG00000155093 Ptprn2 (MGI:107418)
chr7 158631168 158704830 7q36.3 7q36.3 608532 NCAPG2, CAPG2, MTB Non-SMC condensin II complex subunit G2 NCAPG2 54892 ENSG00000146918 Ncapg2 (MGI:1923294)
chr7 158730996 158829627 7q36.3 7q36.3 616691 ESYT2, FAM62B Extended synaptotagmin-like protein 2 ESYT2 57488 ENSG00000117868 Esyt2 (MGI:1261845)
chr7 158839244 158958694 7q36.3 7q36.3 615462 WDR60, SRTD8, SRPS6 WD repeat containing protein 60 WDR60 55112 ENSG00000126870 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3), Autosomal recessive Wdr60 (MGI:2445085)
chr7 159028174 159144956 7q36.3 7q36.3 601970 VIPR2 Vasoactive intestinal peptide receptor 2 VIPR2 7434 ENSG00000106018 Vipr2 (MGI:107166)
chr7 0 159345973 Chr.7 608391 AIS2, VAMAS3 Autoimmune disease, susceptibility to, 2 AIS2 378426 {Autoimmune disease, susceptibility to, 2}, 608391 (2)
chr7 0 159345973 Chr.7 118880 NHCP2 Nonhistone chromosomal protein-2
chr8 0 19200000 8p23.3-p22 606129 DBA2 Diamond-Blackfan anemia 2 114086 Diamond-Blackfan anemia 2, 606129 (2)
chr8 0 29000000 8p23-p21 612279 GEFSP6 Generalized epilepsy with febrile seizures plus, type 6 100190787 between D8S1706 and D8S549 Epilepsy, generalized, with febrile seizures plus, type 6, 612279 (2)
chr8 0 19200000 8p23-p22 148370 KWE Keratolytic winter erythema KWE 3896 Keratolytic winter erythema, 148370 (2), Autosomal dominant
chr8 0 12800000 8p23 609259 MYP10 Myopia 10 MYP10 553195 Myopia 10, 609259 (2), Multifactorial
chr8 0 19200000 8p23-p22 615174 TDH L-threonine dehydrogenase, pseudogene TDH 157739
chr8 0 12800000 8p23 606662 WS2C Waardenburg syndrome, type 2C 170594 Waardenburg syndrome, type 2C, 606662 (2)
chr8 406807 469875 8p23.3 8p23.3 609098 FBXO25, FBX25 F-box only protein 25 FBXO25 26260 ENSG00000147364 Fbxo25 (MGI:1914072)
chr8 737604 1708475 8p 8p23.3 605438 DLGAP2, DAP2 Discs large associated protein 2 DLGAP2 9228 ENSG00000198010 Dlgap2 (MGI:2443181)
chr8 1755777 1786569 8p23 8p23.3 607837 CLN8, EPMR CLN8 gene CLN8 2055 ENSG00000182372 Ceroid lipofuscinosis, neuronal, 8, 600143 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3), Autosomal recessive Cln8 (MGI:1349447)
chr8 1823975 1958640 8p23 8p23.3 608136 ARHGEF10, KIAA0294, SNCV Rho guanine nucleotide exchange factor 10 ARHGEF10 9639 ENSG00000104728 mutation identified in 1 SNCV family ?Slowed nerve conduction velocity, AD, 608236 (3), Autosomal dominant Arhgef10 (MGI:2444453)
chr8 2045042 2145455 8p23.3 8p23.3 603509 MYOM2 Myomesin 2 MYOM2 9172 ENSG00000036448 Myom2 (MGI:1328358)
chr8 2935352 4995034 8p23 8p23.2 608397 CSMD1, KIAA1890 Cub and Sushi multiple domains 1 CSMD1 64478 ENSG00000183117 Csmd1 (MGI:2137383)
chr8 6300000 12800000 8p23.1 222400 DIH2 Hernia, congenital diaphragmatic 2 780899 Hernia, congenital diaphragmatic 2, 222400 (2), Autosomal recessive
chr8 6300000 12800000 8p23.1 612254 SLEB12 Systemic lupus erythematosus, susceptibility to, 12 100190928 associated with rs13277113 {Systemic lupus erythematosus, susceptibility to, 12}, 612254 (2)
chr8 6406591 6648504 8p23 8p23.1 607117 MCPH1 Microcephalin MCPH1 79648 ENSG00000147316 genetic heterogeneity Microcephaly 1, primary, autosomal recessive, 251200 (3), Autosomal recessive Mcph1 (MGI:2443308)
chr8 6499650 6563419 8p23 8p23.1 601922 ANGPT2, ANG2 Angiopoietin 2 ANGPT2 285 ENSG00000091879 close to MCPH1 Angpt2 (MGI:1202890)
chr8 6708356 6761502 8p23.1 8p23.1 614796 AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 AGPAT5 55326 ENSG00000155189 Agpat5 (MGI:1196345)
chr8 6870574 6878006 8p23.1 8p23.1 602056 DEFB1 Defensin, beta-1 DEFB1 1672 ENSG00000164825
chr8 6924693 6926075 8p23.1 8p23.1 600471 DEFA6, DEF6 Defensin, alpha-6, Paneth cell-specific DEFA6 1671 ENSG00000164822
chr8 6935819 6938337 8p23 8p23.1 601157 DEFA4, DEF4, HP4 Defensin, alpha-4, corticostatin DEFA4 1669 ENSG00000164821
chr8 6977648 6980119 8p23.1 8p23.1 125220 DEFA1, DEF1, MRS Defensin, alpha-1, myeloid-related sequence DEFA1 1667 ENSG00000206047
chr8 7055299 7056738 8p23.1 8p23.1 600472 DEFA5, DEF5 Defensin, alpha-5, Paneth cell-specific DEFA5 1670 ENSG00000164816
chr8 7255242 7260475 8p23.1 8p23.1 613051 FAM90A15 Family with sequence similarity 90, member A15 FAM90A15P 389630 copy 1
chr8 7262865 7268097 8p23.1 8p23.1 613042 FAM90A3 Family with sequence similarity 90, member A3 FAM90A3P 389611 copy 2
chr8 7278109 7283341 8p23.1 8p23.1 613049 FAM90A13 Family with sequence similarity 90, member A13 FAM90A13P 441314 copy 4
chr8 7285731 7290963 8p23.1 8p23.1 613043 FAM90A5 Family with sequence similarity 90, member A5 FAM90A5P 441315 copy 5
chr8 7293353 7298583 8p23.1 8p23.1 613054 FAM90A20 Family with sequence similarity 90, member A20 FAM90A20P 728430 copy 6
chr8 7428887 7430347 8p23.1 8p23.1 606611 DEFB103A, DEFB3, HBD3, HBP3 Defensin, beta 103A DEFB103B 55894 ENSG00000177243
chr8 7447753 7463669 8p23-p22 8p23.1 606560 SPAG11, HE2, EP2 Sperm-associated antigen 11 SPAG11B 10407 ENSG00000164871 Spag11b (MGI:3647173)
chr8 7556137 7559103 8p23.1 8p23.1 613044 FAM90A7 Family with sequence similarity 90, member A7 FAM90A7P 441317 copy 8
chr8 7713782 7719014 8p23.1 8p23.1 613050 FAM90A14 Family with sequence similarity 90, member A14 FAM90A14P 645651 copy 12
chr8 7721428 7726662 8p23.1 8p23.1 613052 FAM90A18 Family with sequence similarity 90, member A18 FAM90A18P 441326 copy 13
chr8 7736724 7741957 8p23.1 8p23.1 613045 FAM90A8 Family with sequence similarity 90, member A8 FAM90A8P 441324 copy 15
chr8 7752019 7757253 8p23.1 8p23.1 613053 FAM90A19 Family with sequence similarity 90, member A19 FAM90A19P 728753 copy 17
chr8 7759667 7764901 8p23.1 8p23.1 613046 FAM90A9 Family with sequence similarity 90, member A9 FAM90A9P 441327 copy 18
chr8 7769583 7771312 8p23.1 8p23.1 613047 FAM90A10 Family with sequence similarity 90, member A10 FAM90A10P 441328 copy 19
chr8 7894564 7896715 8p23.1 8p23.1 602215 DEFB4A, DEFB4, DEFB2 Defensin, beta-4a (formerly defensin, beta-2) DEFB4A 1673 ENSG00000171711
chr8 8027073 8032304 8p23.1 8p23.1 613048 FAM90A12 Family with sequence similarity 90, member A12 FAM90A12P 645879 copy 22
chr8 8317730 8386440 8p23.1 8p23.1 617344 PRAG1, PRAGMIN, NACK PEAK1-related kinase-activating pseudokinase 1 PRAG1 157285 ENSG00000275342 Prag1 (MGI:1196223)
chr8 8702155 8704106 8p23.1 8p23.1 609203 CLDN23 Claudin 23 CLDN23 137075 ENSG00000253958 Cldn23 (MGI:1919158)
chr8 8783353 8893620 8p23.1 8p23.1 605352 MFHAS1, MASL1 Malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats-1 MFHAS1 9258 ENSG00000147324 Malignant fibrous histiocytoma, 605352 (2) Mfhas1 (MGI:1098644)
chr8 9136253 9151641 8p23 8p23.1 610541 PPP1R3B, GL Protein phosphatase 1, regulatory subunit 3B PPP1R3B 79660 ENSG00000173281 Ppp1r3b (MGI:2177268)
chr8 9555229 9782345 Chr.8 8p23.1 603303 TNKS TRF1-interacting, ankyrin-related ADP-ribose polymerase (tankyrase) TNKS 8658 ENSG00000173273 Tnks (MGI:1341087)
chr8 9903387 9903471 8p23.1 8p23.1 609327 MIR124-1, MIR124A Micro RNA 124-1 MIR124-1 406907
chr8 10054223 10428890 8p23.1 8p23.1 601250 MSRA Peptide methionine sulfoxide reductase MSRA 4482 ENSG00000175806 Msra (MGI:106916)
chr8 10525483 10554165 8p23.1 8p23.1 615144 PRSS55, TSP1 Protease, serine, 55 PRSS55 203074 ENSG00000184647 Prss55 (MGI:1918287)
chr8 10606348 10655106 8p23 8p23.1 608581 RP1L1 RP1-like protein 1 RP1L1 94137 ENSG00000183638 Occult macular dystrophy, 613587 (3), Autosomal dominant Rp1l1 (MGI:2384303)
chr8 10723767 10730573 8p22 8p23.1 612202 SOX7 SRY-box 7 SOX7 83595 ENSG00000171056 Sox7 (MGI:98369)
chr8 10764960 10839898 8p23 8p23.1 606505 PINX1 PIN2-interacting protein 1 PINX1 54984 ENSG00000254093 Pinx1 (MGI:1919650)
chr8 11284415 11328145 8p23-p22 8p23.1 606260 MTMR9, MTMR8 Myotubularin-related protein 9 MTMR9 66036 ENSG00000104643 Mtmr9 (MGI:2442842)
chr8 11330985 11332185 8p21.3 8p23.1 615199 SLC35G5, AMAC, AMAC1L2 Solute carrier family 35, member G5 SLC35G5 83650 ENSG00000177710
chr8 11421463 11475908 8p23-p22 8p23.1 610085 FAM167A, C8orf13 Family with sequence similarity 167, member A FAM167A 83648 ENSG00000154319 Fam167a (MGI:3606565)
chr8 11493990 11564603 8p23-p22 8p23.1 191305 BLK, MODY11 BLK nonreceptor tyrosine kinase BLK 640 ENSG00000136573 Maturity-onset diabetes of the young, type 11, 613375 (3), Autosomal dominant Blk (MGI:88169)
chr8 11676918 11760001 8p23.1-p22 8p23.1 600576 GATA4, ASD2, VSD1, TACHD, TOF GATA-binding protein-4 GATA4 2626 ENSG00000136574 mutations identified in 1 TACHD family Atrial septal defect 2, 607941 (3), Autosomal dominant; Atrioventricular septal defect 4, 614430 (3), Autosomal dominant; ?Testicular anomalies with or without congenital heart disease, 615542 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant; Ventricular septal defect 1, 614429 (3), Autosomal dominant Gata4 (MGI:95664)
chr8 11769624 11787354 8p23.1 8p23.1 608933 NEIL2, NEI2 Endonuclease VIII-like 2 NEIL2 252969 ENSG00000154328 Neil2 (MGI:2686058)
chr8 11795572 11839308 8p23.1-p22 8p23.1 184420 FDFT1, DGPT Farnesyl-diphosphate farnesyltransferase 1 (squalene synthase) FDFT1 2222 ENSG00000079459 Fdft1 (MGI:102706)
chr8 11842523 11868149 8p22 8p23.1 116810 CTSB, CPSB Cathepsin B CTSB 1508 ENSG00000164733 13q14 by rat probe Ctsb (MGI:88561)
chr8 12137167 12138759 8p23.1 8p23.1 610186 USP17L2, DUB3 Ubiquitin specific peptidase 17-like family member 2 USP17L2 377630 ENSG00000223443
chr8 12182103 12195435 8p23.1 8p23.1 616122 FAM86B1 Family with sequence similarity 86, member B1 FAM86B1 85002 ENSG00000186523
chr8 12425400 12436405 8p23.1 8p23.1 616123 FAM86B2 Family with sequence similarity 86, member B2 FAM86B2 653333 ENSG00000145002
chr8 12800000 19200000 8p22 614252 ANIB11 Aneurysm, intracranial berry, 11 100750328 max lod at D8S552 Aneurysm, intracranial berry, 11, 614252 (2)
chr8 12800000 19200000 8p22 612030 CHDS9 Coronary heart disease, susceptibility to, 9 100188877 max lod at D8S1106 {Coronary heart disease, susceptibility to, 9}, 612030 (2)
chr8 12800000 23500000 8p22-p21.3 612789 DFNB71 Deafness, autosomal recessive 71 DFNB71 100302513 max lod at D8S261 Deafness, autosomal recessive 71, 612789 (2), Autosomal recessive
chr8 12800000 54600000 8p22-q11 610099 MPD3 Myopathy, distal 3 780920 possible locus on 12q13-q22 Myopathy, distal 3, 610099 (2), Autosomal dominant
chr8 12945673 13029776 8p22 8p22 615666 KIAA1456, TRM9L KIAA1456 gene TRMT9B 57604 ENSG00000250305 6430573F11Rik (MGI:2442328)
chr8 13083360 13604615 8p22-p21.3 8p22 604258 DLC1 Deleted in liver cancer 1 DLC1 10395 ENSG00000164741 Colorectal cancer, somatic, 114500 (3) Dlc1 (MGI:1354949)
chr8 14084834 15238282 8p22 8p22 608113 SGCZ, ZSG1 Sarcoglycan, zeta SGCZ 137868 ENSG00000185053 Sgcz (MGI:2388820)
chr8 15540086 15766648 8p22 8p22 601385 TUSC3, M33, D8S1992, MRT7, MRT22 Tumor suppressor candidate 3 TUSC3 7991 ENSG00000104723 Mental retardation, autosomal recessive 7, 611093 (3), Autosomal recessive Tusc3 (MGI:1933134)
chr8 16107877 16192790 8p22 8p22 153622 MSR1, SCARA1, SRA Macrophage scavenger receptor MSR1 4481 ENSG00000038945 ~11cM distal to LPL Barrett esophagus/esophageal adenocarcinoma, 614266 (3) Msr1 (MGI:98257)
chr8 16992824 17002164 8p22-p21.3 8p22 605558 FGF20, RHDA2 Fibroblast growth factor-20 FGF20 26281 ENSG00000078579 mutation identified in 1 RHDA2 family ?Renal hypodysplasia/aplasia 2, 615721 (3), Autosomal recessive Fgf20 (MGI:1891346)
chr8 17027237 17133068 8p22 8p22 610633 MICU3, EFHA2 Mitochondrial calcium uptake protein 3 MICU3 286097 ENSG00000155970 Micu3 (MGI:1925756)
chr8 17221980 17246908 8p22-p21.3 8p22 604913 CNOT7, CAF1 CCR4-NOT transcription complex, subunit 7 CNOT7 29883 ENSG00000198791 Cnot7 (MGI:1298230)
chr8 17246891 17333531 8p23-p21 8p22 609927 VPS37A, HCRP1, SPG53 Vacuolar protein sorting 37A VPS37A 137492 ENSG00000155975 Spastic paraplegia 53, autosomal recessive, 614898 (3), Autosomal recessive Vps37a (MGI:1261835)
chr8 17296127 17413530 8p22 8p22 603562 MTMR7 Myotubularin-related protein 7 MTMR7 9108 ENSG00000003987 Mtmr7 (MGI:1891693)
chr8 17494348 17570567 8p22 8p22 601872 SLC7A2, ATRC2, HCAT2 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 SLC7A2 6542 ENSG00000003989 Slc7a2 (MGI:99828)
chr8 17576432 17643132 8p22-p21.3 8p22 604584 PDGFRL, PDGRL, PRLTS Platelet-derived growth factor receptor-like PDGFRL 5157 ENSG00000104213 Colorectal cancer, somatic, 114500 (3); Hepatocellular cancer, somatic, 114550 (3) Pdgfrl (MGI:1916047)
chr8 17864379 17909982 8p22 8p22 605776 FGL1, HFREP1 Fibrinogen-like 1 FGL1 2267 ENSG00000104760 Fgl1 (MGI:102795)
chr8 17922783 18029947 8p22-p21.3 8p22 600299 PCM1, PTC4 Pericentriolar material 1 PCM1 5108 ENSG00000078674 fused with RET to form PTC4 Pcm1 (MGI:1277958)
chr8 18056298 18084997 8p22-p21.3 8p22 613468 ASAH1, AC, SMAPME N-acylsphingosine amidohydrolase (acid ceramidase) 1 ASAH1 427 ENSG00000104763 Farber lipogranulomatosis, 228000 (3), Autosomal recessive; Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3), Autosomal recessive Asah1 (MGI:1277124)
chr8 18170418 18223688 8p23.1-p21.3 8p22 108345 NAT1, AAC1 Arylamine N-acetyltransferase-1 NAT1 9 ENSG00000171428 Nat2 (MGI:109201)
chr8 18386584 18401218 8p23.1-p21.3 8p22 612182 NAT2, AAC2 Arylamine N-acetyltransferase-2 NAT2 10 ENSG00000156006 acetylation polymorphism [Acetylation, slow], 243400 (3), Autosomal recessive Nat1 (MGI:97279)
chr8 18527302 19086908 8p22 8p22 614440 PSD3, HCA67, EFA6R Pleckstrin and Sec7 domains-containing protein 3 PSD3 23362 ENSG00000156011 Psd3 (MGI:1918215)
chr8 19200000 29000000 8p21 603013 SCZD6 Schizophrenia susceptibility locus, chromosome 8p-related SCZD6 8400 ?neuregulin 1 {Schizophrenia}, 181500 (2), Autosomal dominant
chr8 19313442 19396217 8p22 8p21.3 614968 SH2D4A, SH2A, PPP1R38 SH2 domain-containing protein 4A SH2D4A 63898 ENSG00000104611 Sh2d4a (MGI:1919531)
chr8 19404160 19758028 8p21.3 8p21.3 616615 CSGALNACT1 Chondroitin sulfate N-acetylgalactosaminyltransferase 1 CSGALNACT1 55790 ENSG00000147408 Csgalnact1 (MGI:2442354)
chr8 19817148 19852082 8p21.3 8p21.3 611353 INTS10, INT10 Integrator complex subunit 10 INTS10 55174 ENSG00000104613 Ints10 (MGI:1918135)
chr8 19939070 19967258 8p22 8p21.3 609708 LPL, LIPD, HDLCQ11 Lipoprotein lipase LPL 4023 ENSG00000175445 Combined hyperlipidemia, familial, 144250 (3), Autosomal dominant; [High density lipoprotein cholesterol level QTL 11] (3); Lipoprotein lipase deficiency, 238600 (3), Autosomal recessive Lpl (MGI:96820)
chr8 20144854 20183205 8p21.3 8p21.3 193002 SLC18A1, VMAT1, VAT1, CGAT Solute carrier family 18 (vesicular monoamine), member 1 SLC18A1 6570 ENSG00000036565 Slc18a1 (MGI:106684)
chr8 20197192 20226851 8p21.3 8p21.3 606939 ATP6V1B2, ATP6B2, VPP3, DOOD, ZLS2 ATPase, H+ transporting, lysosomal, V1 subunit B, isoform 2 ATP6V1B2 526 ENSG00000147416 Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 (3), Autosomal dominant; Zimmermann-Laband syndrome 2, 616455 (3), Autosomal dominant Atp6v1b2 (MGI:109618)
chr8 20246164 20303980 8p22 8p21.3 606551 LZTS1, F37, FEZ1 Leucine zipper, putative tumor suppressor 1 LZTS1 11178 ENSG00000061337 Esophageal squamous cell carcinoma, 133239 (3), Autosomal dominant Lzts1 (MGI:2684762)
chr8 21690402 21789295 8p21 8p21.3 601956 GFRA2, GDNFRB GDNF family receptor alpha-2 GFRA2 2675 ENSG00000168546 Gfra2 (MGI:1195462)
chr8 21908872 21913716 8p21.3 8p21.3 604997 DOK2, P56DOK Docking protein 2 DOK2 9046 ENSG00000147443 Dok2 (MGI:1332623)
chr8 21919668 22006584 8p21.3 8p21.3 606140 XPO7, RANBP16, KIAA0745 Exportin 7 XPO7 23039 ENSG00000130227 Xpo7 (MGI:1929705)
chr8 22023307 22036907 8p21.3 8p21.3 608073 NPM2 Nucleophosmin/nucleoplasmin family, member 2 NPM2 10361 ENSG00000158806 Npm2 (MGI:1890811)
chr8 22039707 22048808 8p21.3 8p21.3 603725 FGF17, HH20 Fibroblast growth factor 17 FGF17 8822 ENSG00000158815 Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3), Autosomal dominant Fgf17 (MGI:1202401)
chr8 22048954 22082526 8p21.1 8p21.3 125305 EPB49, DMT Erythrocyte membrane protein band 49 (dematin) DMTN 2039 ENSG00000158856 Dmtn (MGI:99670)
chr8 22106871 22110354 8p21.3 8p21.3 615791 NUDT18, MTH3 Nucleoside diphosphate-linked moiety X motif 18 NUDT18 79873 ENSG00000275074 Nudt18 (MGI:2385853)
chr8 22114418 22133383 8p21.2 8p21.3 602302 HR, AU, MUHH1, HYPT4 Hairless, mouse, homolog of HR 55806 ENSG00000168453 Alopecia universalis, 203655 (3), Autosomal recessive; Atrichia with papular lesions, 209500 (3), Autosomal recessive; Hypotrichosis 4, 146550 (3), Autosomal dominant Hr (MGI:96223)
chr8 22138013 22141950 8p21.3 8p21.3 609349 REEP4, C8orf20 Receptor expression-enhancing protein 4 REEP4 80346 ENSG00000168476 Reep4 (MGI:1919799)
chr8 22146829 22156830 8p21.3 8p21.3 608302 LGI3 Leucine-rich gene, glioma-inactivated, 3 LGI3 203190 ENSG00000168481 Lgi3 (MGI:2182619)
chr8 22161670 22164478 8p21 8p21.3 178620 SFTPC, SFTP2, SMDP2 Surfactant, pulmonary-associated protein C (pulmonary surfactant apoprotein-2, SP-C) SFTPC 6440 ENSG00000168484 Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3), Autosomal dominant Sftpc (MGI:109517)
chr8 22165139 22212325 8p21 8p21.3 112264 BMP1, OI13 Bone morphogenetic protein-1 BMP1 649 ENSG00000168487 1kb 3' to SFTP2 Osteogenesis imperfecta, type XIII, 614856 (3), Autosomal recessive Bmp1 (MGI:88176)
chr8 22244961 22245042 8p21.3 8p21.3 614112 MIR320A, MIRN320A Micro RNA 320A MIR320A 407037
chr8 22245103 22251166 8q21 8p21.3 187280 POLR3D, BN51T, TSBN51 Polymerase III, RNA, subunit D POLR3D 661 ENSG00000168495 Polr3d (MGI:1914315)
chr8 22275279 22356865 8p21.3 8p21.3 610312 PIWIL2, MILI PIWI-like 2 PIWIL2 55124 ENSG00000197181 Piwil2 (MGI:1930036)
chr8 22367229 22434128 8p21.3 8p21.3 608736 SLC39A14, ZIP14, KIAA0062, HMNDYT2 Solute carrier family 39 (zinc transporter), member 14 SLC39A14 23516 ENSG00000104635 Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive Slc39a14 (MGI:2384851)
chr8 22440969 22541465 Chr.8 8p21.3 114107 PPP3CC, CALNA3 Protein phosphatase-3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma) PPP3CC 5533 ENSG00000120910 Ppp3cc (MGI:107162)
chr8 22544989 22575494 8p21.3 8p21.3 610795 SORBS3, SCAM1, SH3D4 Sorbin and SH3 domains-containing 3 SORBS3 10174 ENSG00000120896 Sorbs3 (MGI:700013)
chr8 22578740 22598024 8p21.2 8p21.3 609722 PDLIM2, MYSTIQUE PDZ and LIM domain protein 2 PDLIM2 64236 ENSG00000120913 Pdlim2 (MGI:2384850)
chr8 22604631 22620470 8p21 8p21.3 607359 CCAR2, DBC1, KIAA1967 Cell division cycle and apoptosis regulator 2 CCAR2 57805 ENSG00000158941 Ccar2 (MGI:2444228)
chr8 22620417 22669147 8p21.3 8p21.3 606396 BIN3 Bridging integrator 3 BIN3 55909 ENSG00000147439 Bin3 (MGI:1929883)
chr8 22687660 22693301 8p23-p21 8p21.3 602419 EGR3 Early growth response 3 EGR3 1960 ENSG00000179388 Egr3 (MGI:1306780)
chr8 22713250 22941094 8p21.2 8p21.3 612473 PEPB4, CORK1 Phosphatidylethanolamine-binding protein 4 PEBP4 157310 ENSG00000134020 Pebp4 (MGI:1920773)
chr8 22987405 23020196 8p21.2 8p21.3 607352 RHOBTB2, DBC2, KIAA0717 Rho-related BTB domain-containing protein 2 RHOBTB2 23221 ENSG00000008853 Rhobtb2 (MGI:2180557)
chr8 23020132 23069186 8p22-p21 8p21.3 603612 TNFRSF10B, DR5, TRAILR2 Tumor necrosis factor receptor superfamily, member 10B TNFRSF10B 8795 ENSG00000120889 Squamous cell carcinoma, head and neck, 275355 (3), Autosomal recessive
chr8 23102813 23117436 8p22-p21 8p21.3 603613 TNFRSF10C, DCR1, TRAILR3, TRID Tumor necrosis factor receptor superfamily, member 10C TNFRSF10C 8794
chr8 23135587 23164029 8p21 8p21.3 603614 TNFRSF10D, DCR2, TRAILR4 Tumor necrosis factor receptor superfamily, member 10D TNFRSF10D 8793 ENSG00000173530
chr8 23191456 23225166 8p21 8p21.3 603611 TNFRSF10A, DR4, TRAILR1, APO2 Tumor necrosis factor receptor superfamily, member 10A TNFRSF10A 8797 ENSG00000104689 Tnfrsf10b (MGI:1341090)
chr8 23243636 23261999 8p21.3 8p21.3 611130 CHMP7 CHMP family, member 7 CHMP7 91782 ENSG00000147457 Chmp7 (MGI:1913922)
chr8 23296896 23404208 8p21.3-p21.2 8p21.3 606663 LOXL2 Lysyl oxidase-like 2 LOXL2 4017 ENSG00000134013 Loxl2 (MGI:2137913)
chr8 23429151 23457730 8p21.3 8p21.3 607577 ENTPD4, LYSAL1, LAP70, KIAA0392 Ectonucleoside triphosphate diphosphohydrolase 4 ENTPD4 9583 ENSG00000197217 Entpd4,Entpd4b (MGI:1914714,MGI:5435040)
chr8 23528794 23575462 8p21 8p21.2 610387 SLC25A37, MFRN, MFRN1 Solute carrier family 25 (mitochondrial iron carrier), member 37 SLC25A37 51312 ENSG00000147454 Slc25a37 (MGI:1914962)
chr8 23678692 23682936 8p21 8p21.2 602041 NKX3-1, NKX3A, BAPX2 NK3 homeo box 1 NKX3-1 4824 ENSG00000167034 Nkx3-1 (MGI:97352)
chr8 23702450 23706597 8p21 8p21.2 611770 NKX2-6, CSX2, CTHM NK2, Drosophila, homolog of, 6 NKX2-6 137814 ENSG00000180053 Conotruncal heart malformations, 217095 (3); Persistent truncus arteriosus, 217095 (3) Nkx2-6 (MGI:97351)
chr8 23841920 23854806 8p21-p11.2 8p21.2 601185 STC1, STC Stanniocalcin 1 STC1 6781 ENSG00000159167 Stc1 (MGI:109131)
chr8 24294039 24359017 8p12 8p21.2 606188 ADAM28, MDCL A disintegrin and metalloproteinase domain 28 ADAM28 10863 ENSG00000042980 Adam28 (MGI:105988)
chr8 24384284 24406012 8p12 8p21.2 606393 ADAMDEC1, DECYSIN A disintegrin and metalloproteinase domain-like protein decysin 1 ADAMDEC1 27299 ENSG00000134028 Adamdec1 (MGI:1917650)
chr8 24440995 24509564 8p12 8p21.2 607310 ADAM7 A disintegrin and metalloproteinase domain 7 ADAM7 8756 ENSG00000069206 Adam7 (MGI:107247)
chr8 24913760 24919092 8p21 8p21.2 162250 NEFM, NEF3, NFM Neurofilament protein, medium polypeptide NEFM 4741 ENSG00000104722
chr8 24950954 24956868 8p21 8p21.2 162280 NEFL, CMT2E, CMT1F, CMTDIG Neurofilament, light polypeptide NEFL 4747 ENSG00000277586 Charcot-Marie-Tooth disease, dominant intermediate G, 617882 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1F, 607734 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, type 2E, 607684 (3), Autosomal dominant Nefl (MGI:97313)
chr8 25184722 25415715 8p21.2 8p21.2 616904 DOCK5 Dedicator of cytokinesis 5 DOCK5 80005 ENSG00000147459 Dock5 (MGI:2652871)
chr8 25419257 25425039 8p21-p11.2 8p21.2 152760 GNRH1, LNRH, HH12 Gonadotropin-releasing hormone-1 (luteinizing-releasing hormone) GNRH1 2796 ENSG00000147437 mutation identified in 1 HH12 family ?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3), Autosomal recessive Gnrh1 (MGI:95789)
chr8 25424356 25458467 8p21.2 8p21.2 617265 KCTD9, BTBD27 Potassium channel tetramerization domain-containing protein 9 KCTD9 54793 ENSG00000104756 Kctd9 (MGI:2145579)
chr8 25841729 26045123 8p21.2 8p21.2 609934 EBF2 Early B-cell factor 2 EBF2 64641 ENSG00000221818 Ebf2 (MGI:894332)
chr8 26383006 26413128 8p21 8p21.2 605368 BNIP3L, NIX BCL2/adenovirus E1B 19-kD protein-interacting protein 3-like BNIP3L 665 ENSG00000104765 Bnip3l,Bnip3l-ps (MGI:1332659,MGI:3642435)
chr8 26504679 26513966 8p21.2 8p21.2 603970 PNMA2, MA2, MM2 Paraneoplastic MA antigen 2 PNMA2 10687 ENSG00000240694 Pnma2 (MGI:2444129)
chr8 26514192 26658176 8p21 8p21.2 602463 DPYSL2, DRP2, CRMP2 Dihydropyrimidinase-like 2 DPYSL2 1808 ENSG00000092964 Dpysl2 (MGI:1349763)
chr8 26738112 26870993 8p21 8p21.2 104221 ADRA1C Adrenergic, alpha-1C-, receptor ADRA1A 148 ENSG00000120907 .03cM from NEFL Adra1a (MGI:104773)
chr8 27284885 27311318 8p21.1 8p21.2 617007 TRIM35, MAIR, HLS5, KIAA1098 Tripartite motif-containing protein 35 TRIM35 23087 ENSG00000104228 Trim35 (MGI:1914104)
chr8 27311481 27459390 8p22-p11.2 8p21.2 601212 PTK2B, FAK2, PYK2 Protein tyrosine kinase-2, beta (focal adhesion kinase 2) PTK2B 2185 ENSG00000120899 Ptk2b (MGI:104908)
chr8 27459760 27479295 8p21 8p21.2 118502 CHRNA2 Cholinergic receptor, nicotinic, alpha polypeptide-2 CHRNA2 1135 ENSG00000120903 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3), Autosomal dominant Chrna2 (MGI:87886)
chr8 27491001 27597558 8p21-p12 8p21.2-p21.1 132811 EPHX2 Epoxide hydrolase 2, cytoplasmic EPHX2 2053 ENSG00000120915 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3), Autosomal dominant Ephx2 (MGI:99500)
chr8 27500000 29000000 8p21.1 240400 GULOP, GULO Gulonolactone (L-) oxidase pseudogene GULOP 2989 Scurvy (3)
chr8 27500000 72000000 8p21.1-q13.3 611945 SPG37 Spastic paraplegia 37 SPG37 100049159 max lod at D8S601 Spastic paraplegia 37, autosomal dominant, 611945 (2), Autosomal dominant
chr8 27596916 27615030 8p21-p12 8p21.1 185430 CLU, CLI, SGP2, TRPM2 Clusterin (complement lysis inhibitor, SP-40,40; sulfated glycoprotein 2; testosterone-repressed prostate message-2; apolipoprotein J) CLU 1191 ENSG00000120885 Clu (MGI:88423)
chr8 27633664 27736593 8p21 8p21.1 602728 SCARA3, MSLR1, CSR Scavenger receptor class A, member 3 SCARA3 51435 ENSG00000168077 Scara3 (MGI:2444418)
chr8 27771948 27812429 8p21.1 8p21.1 609353 ESCO2 Establishment of cohesion 1, S. cerevisiae, homolog of, 2 ESCO2 157570 ENSG00000171320 Roberts syndrome, 268300 (3), Autosomal recessive; SC phocomelia syndrome, 269000 (3), Autosomal recessive Esco2 (MGI:1919238)
chr8 27809620 27838094 8p21.1 8p21.1 611210 PBK, TOPK PDZ-binding kinase PBK 55872 ENSG00000168078 Pbk (MGI:1289156)
chr8 27869881 27992851 8p21.1 8p21.1 611306 SCARA5 Scavenger receptor class A, member 5 SCARA5 286133 ENSG00000168079 Scara5 (MGI:1918395)
chr8 28090230 28191152 8p21.1 8p21.1 612722 ELP3, KAT9 Elongation protein 3, S. cerevisiae, homolog of ELP3 55140 ENSG00000134014 Elp3 (MGI:1921445)
chr8 28316978 28343354 8p21 8p21.1 601459 PNOC, PPNOC Prepronociceptin PNOC 5368 ENSG00000168081 Pnoc (MGI:105308)
chr8 28345584 28386459 8p21.1 8p21.1 609494 ZNF395, PBF, HDBP2 Zinc finger protein 395 ZNF395 55893 ENSG00000186918 Zfp395 (MGI:2682318)
chr8 28428407 28490317 8p21.1 8p21.1 608519 FBXO16, FBX16 F-box only protein 16 FBXO16 157574 ENSG00000214050 ?8p12 Fbxo16 (MGI:1354706)
chr8 28494204 28574267 8p21 8p21.1 606143 FZD3 Frizzled, Drosophila, homolog of, 3 FZD3 7976 ENSG00000104290 Fzd3 (MGI:108476)
chr8 28607735 28753689 8p21 8p21.1 605744 EXTL3, EXTR1, ISDNA Exostosin-like 3 EXTL3 2137 ENSG00000012232 Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive Extl3 (MGI:1860765)
chr8 28767657 28890225 8p21.1 8p21.1 611352 INTS9, INT9, RC74 Integrator complex subunit 9 INTS9 55756 ENSG00000104299 Ints9 (MGI:1098533)
chr8 29000000 105100000 8p12-q22 611073 AD12 Alzheimer disease 12 100188830 max lod at D8S1119 {Alzheimer disease 12}, 611073 (2)
chr8 29000000 36700000 8p12 612348 THPH9 Thrombophilia due to decreased release of tissue plasminogen activator ?Thrombophilia due to decreased release of tissue plasminogen (1)
chr8 29067277 29263384 8p12 8p12 607350 KIF13B, GAKIN, KIAA0639 Kinesin family member 13B KIF13B 23303 ENSG00000197892 Kif13b (MGI:1098265)
chr8 29333061 29350749 8p12-p11 8p12 602747 DUSP4, MKP2, HVH2 Dual-specificity phosphatase-4 (MAP kinase phosphatase-2) DUSP4 1846 ENSG00000120875 Dusp4 (MGI:2442191)
chr8 30063011 30083207 8p12 8p12 614768 TMEM66, SARAF Transmembrane protein 66 SARAF 51669 ENSG00000133872 Saraf (MGI:1915137)
chr8 30095405 30137705 8p21.2-p21.1 8p12 607338 LEPROTL1 Leptin receptor overlapping transcript-like 1 LEPROTL1 23484 ENSG00000104660 Leprotl1 (MGI:1915442)
chr8 30131453 30148767 8p12 8p12 611940 MBOAT4, GOAT Membrane-bound O-acetyltransferase domain-containing 4 MBOAT4 619373 ENSG00000177669 Mboat4 (MGI:2685017)
chr8 30156296 30183638 8p12-p11 8p12 612963 DCTN6, WS3, P27 Dynactin 6 DCTN6 10671 ENSG00000104671 Dctn6 (MGI:1343154)
chr8 30384500 30572260 8p12-p11 8p12 601558 RBPMS RNA-binding protein gene with multiple splicing RBPMS 11030 ENSG00000157110 Rbpms (MGI:1334446)
chr8 30578317 30658240 8p21-p12 8p12 189964 GTF2E2, TTD6 General transcription factor IIE, polypeptide 2, beta subunit, 34kD GTF2E2 2961 ENSG00000197265 Trichothiodystrophy 6, nonphotosensitive, 616943 (3), Autosomal recessive Gtf2e2 (MGI:1915403)
chr8 30678060 30727998 8p21.1 8p12 138300 GSR Glutathione reductase GSR 2936 ENSG00000104687 Hemolytic anemia due to glutathione reductase deficiency (1) Gsr (MGI:95804)
chr8 30729130 30767005 8p12-p11.2 8p12 602155 UBXN8, D8S2298E, REP8 UBX domain protein 8 UBXN8 7993 ENSG00000104691 Ubxn8 (MGI:1337129)
chr8 30785609 30812835 8p12-p11.2 8p12 176916 PPP2CB Protein phosphatase-2 (formerly 2A), catalytic subunit, beta isoform PPP2CB 5516 ENSG00000104695 pseudogene on 16 Ppp2cb (MGI:1321161)
chr8 30831543 30913011 Chr.8 8p12 605795 TEX15 Testis-expressed gene 15 TEX15 56154 ENSG00000133863 Tex15 (MGI:1934816)
chr8 31033261 31175870 8p12-p11.2 8p12 604611 RECQL2, RECQ3, WRN DNA helicase, RecQ-like 2 WRN 7486 ENSG00000165392 Werner syndrome, 277700 (3), Autosomal recessive Wrn (MGI:109635)
chr8 31639221 32771715 8p22-p11 8p12 142445 NRG1, HGL, HRGA, ARIA Neuregulin 1 (heregulin, alpha, 45kD; ERBB2 p185-activator) NRG1 3084 ENSG00000157168 {?Schizophrenia, susceptibility to}, 603013 (1)
chr8 33308101 33473145 8p12 8p12 616931 FUT10, FUCTX Fucosyltransferase 10 FUT10 84750 ENSG00000172728 Fut10 (MGI:2384748)
chr8 33498464 33513191 8p12 8p12 614426 TTI2, C8orf41, MRT39 TELO2-interacting protein 2 TTI2 80185 ENSG00000129696 Mental retardation, autosomal recessive 39, 615541 (3), Autosomal recessive Tti2 (MGI:2384576)
chr8 33513474 33513577 8p12 8p12 616664 SNORD13 Small nucleolar RNA, C/D box, 13 SNORD13 692084
chr8 35235456 35796549 8p12 8p12 616466 UNC5D, UNC5H4 Unc5. C. elegans, homolog of, D UNC5D 137970 ENSG00000156687 Unc5d (MGI:2389364)
chr8 36700000 45200000 8p11 613523 SCLL Chromosome 8p11 myeloproliferative syndrome (stem cell leukemia/lymphoma) translocation of FGFR1 (8p11) and various partners Chromosome 8p11 myeloproliferative syndrome, 613523 (4)
chr8 36784323 36936124 8p11.23 8p11.23 615215 KCNU1, SLO3 Potassium channel, subfamily U, member 1 KCNU1 157855 ENSG00000215262 Kcnu1 (MGI:1202300)
chr8 37695750 37700020 8p11.23 8p11.23 617045 ZNF703, ZEPPO1, NLZ1 Zinc finger protein 703 ZNF703 80139 ENSG00000183779 Zfp703 (MGI:2662729)
chr8 37736578 37757800 8p11.2 8p11.23 611605 ERLIN2, SPFH2, C8orf2, SPG18 Endoplasmic reticulum lipid raft-associated protein 2 ERLIN2 11160 ENSG00000147475 Spastic paraplegia 18, autosomal recessive, 611225 (3), Autosomal recessive Erlin2 (MGI:2387215)
chr8 37762545 37779767 8p11.2 8p11.23 604436 PROSC, EPVB6D Proline synthetase cotranscribed, bacteria, homolog of PLPBP 11212 ENSG00000147471 Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive Plpbp (MGI:1891207)
chr8 37796882 37843985 8p12 8p11.23 606823 ADGRA2, GPR124, TEM5, KIAA1531 Adhesion G protein-coupled receptor A2 ADGRA2 25960 ENSG00000020181 Adgra2 (MGI:1925810)
chr8 37843879 37849912 8p11.23 8p11.23 607013 BRF2, BRFU, TFIIIB50 BRF2 subunit of RNA polymerase III transcription initiation factor BRF2 55290 ENSG00000104221 Brf2 (MGI:1913903)
chr8 37858946 37899496 8p11.22 8p11.23 608737 RAB11FIP1, RCP RAB11 family-interacting protein 1 RAB11FIP1 80223 ENSG00000156675 Rab11fip1 (MGI:1923017)
chr8 37962994 37966665 8p12-p11.2 8p11.23 109691 ADRB3 Adrenergic, beta-3-, receptor ADRB3 155 ENSG00000188778 {Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Adrb3 (MGI:87939)
chr8 38030501 38060364 8p12 8p11.23 602223 EIF4EBP1, 4EBP1 Eukaryotic translation initiation factor-4E binding protein-1 EIF4EBP1 1978 ENSG00000187840 Eif4ebp1 (MGI:103267)
chr8 38104964 38140079 8p11.2 8p11.23 604782 ASH2L, ASH2L2, ASH2L1 ASH2, Drosophila, homolog of ASH2L 9070 ENSG00000129691 Ash2l (MGI:1344416)
chr8 38142699 38151081 8p11.2 8p11.23 600617 STAR Steroidogenic acute regulatory protein STAR 6770 ENSG00000147465 Lipoid adrenal hyperplasia, 201710 (3), Autosomal recessive Star (MGI:102760)
chr8 38163320 38176729 8p11.23 8p11.23 607281 LSM1 LSM1 protein LSM1 27257 ENSG00000175324 Lsm1 (MGI:1914457)
chr8 38176587 38213300 8p11.23 8p11.23 603884 BAG4, SODD Bcl2-associated athanogene 4 BAG4 9530 ENSG00000156735 Bag4 (MGI:1914634)
chr8 38231490 38273921 8p11.23 8p11.23 615003 DDHD2, KIAA0725, SPG54 DDHD domain-containing protein 2 DDHD2 23259 ENSG00000085788 Spastic paraplegia 54, autosomal recessive, 615033 (3), Autosomal recessive Ddhd2 (MGI:1919358)
chr8 38261789 38269434 8p11.23 8p11.23 610626 PLPP5, PPAPDC1B, HTPAP Phospholipid phosphatase 5 PLPP5 84513 ENSG00000147535 Plpp5 (MGI:1919160)
chr8 38275041 38382271 8p12 8p11.23 607083 NSD3, WHSC1L1 Nuclear receptor-binding SET domain protein 3 NSD3 54904 ENSG00000147548 pseudogene on 17q21; fusion partner with NUP98 in AML Leukemia, acute myeloid, 601626 (3), Autosomal dominant Nsd3 (MGI:2142581)
chr8 38411137 38468833 8p11.2-p11.1 8p11.23 136350 FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2) FGFR1 2260 ENSG00000077782 fused with BCR, CEP1, FOP, FIM in hematologic malignancies Encephalocraniocutaneous lipomatosis, 613001 (3), Somatic mosaicism; Hartsfield syndrome, 615465 (3), Autosomal dominant; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3), Autosomal dominant; Jackson-Weiss syndrome, 123150 (3), Autosomal dominant; Osteoglophonic dysplasia, 166250 (3), Autosomal dominant; Pfeiffer syndrome, 101600 (3), Autosomal dominant; Trigonocephaly 1, 190440 (3), Autosomal dominant Fgfr1 (MGI:95522)
chr8 38728185 38853029 8p11 8p11.22 605301 TACC1 Transforming, acidic, coiled-coil-containing protein-1 TACC1 6867 ENSG00000147526 Tacc1 (MGI:2443510)
chr8 38901234 38973911 Chr.8 8p11.22 607773 PLEKHA2, TAPP2 Pleckstrin homology domain-containing protein, family A, member 2 PLEKHA2 59339 ENSG00000169499 Plekha2 (MGI:1928144)
chr8 38974148 38988661 8p11.23 8p11.22 610700 HTRA4 HTRA serine peptidase 4 HTRA4 203100 ENSG00000169495 Htra4 (MGI:3036260)
chr8 38988807 38997138 8p11.22 8p11.22 610081 TM2D2, BLP1 TM2 domain-containing protein 2 TM2D2 83877 ENSG00000169490 Tm2d2 (MGI:1916992)
chr8 38996766 39105260 8p11.23 8p11.22 602713 ADAM9, MDC9, MCMP, CORD9 A disintegrin and metalloproteinase domain 9 ADAM9 8754 ENSG00000168615 Cone-rod dystrophy 9, 612775 (3) Adam9 (MGI:105376)
chr8 39743734 39838288 8p11.2 8p11.22 601533 ADAM2, FTNB, PH30, CRYN1, CRYN2 A disintegrin and metalloproteinase domain 2 (fertilin, beta) ADAM2 2515 ENSG00000104755 Adam2 (MGI:1340894)
chr8 39913808 39928789 8p12-p11 8p11.21 147435 IDO1, INDO, IDO Indoleamine 2,3-dioxygenase IDO1 3620 ENSG00000131203 Ido1 (MGI:96416)
chr8 39934954 40016390 8p12 8p11.21 612129 IDO2, INDOL1 Indoleamine 2,3-dioxygenase 2 IDO2 169355 ENSG00000188676 Ido2 (MGI:2142489)
chr8 40153467 40155307 8p11.2 8p11.21 607702 TCIM, C8orf4 Transcriptional and immune response regulator TCIM 56892 ENSG00000176907 Tcim (MGI:1916318)
chr8 41261956 41309470 8p12-p11.1 8p11.21 604156 SFRP1, FRP, SARP2 Secreted frizzled-related protein 1 SFRP1 6422 ENSG00000104332 Sfrp1 (MGI:892014)
chr8 41529204 41545045 8p11.21 8p11.21 610611 GINS4, SLD5 GINS complex subunit 4 GINS4 84296 ENSG00000147536 Gins4 (MGI:1923847)
chr8 41578187 41625000 8p11.21 8p11.21 608143 AGPAT6, LPAATZ 1-acylglycerol-3-phosphate O-acyltransferase 6 GPAT4 137964 ENSG00000158669 Gpat4 (MGI:2142716)
chr8 41645176 41650817 8p11.2 8p11.21 610772 NKX6-3, NKX6.3 NK6, Drosophila, homolog of NKX6-3 157848 ENSG00000165066
chr8 41653224 41896761 8p11.2 8p11.21 612641 ANK1, SPH1 Ankyrin-1, erythrocytic ANK1 286 ENSG00000029534 Spherocytosis, type 1, 182900 (3), Autosomal dominant Ank1 (MGI:88024)
chr8 41929478 42052025 8p11 8p11.21 601408 KAT6A, MYST3, MOZ, ZNF220, MRD32 K(lysine) acetyltransferase 6A KAT6A 7994 ENSG00000083168 Mental retardation, autosomal dominant 32, 616268 (3), Autosomal dominant Kat6a (MGI:2442415)
chr8 42152945 42171182 8p11.2 8p11.21 610469 AP3M2, CLA20 Adaptor-related protein complex 3, mu-2 subunit AP3M2 10947 ENSG00000070718 Ap3m2 (MGI:1929214)
chr8 42174717 42207723 8p12 8p11.21 173370 PLAT, TPA Plasminogen activator, tissue type PLAT 5327 ENSG00000104368 Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1); Thrombophilia, familial, due to decreased release of PLAT, 612348 (1) Plat (MGI:97610)
chr8 42270726 42332652 8p11.2 8p11.21 603258 IKBKB, NFKBIKB, IMD15 Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, beta IKBKB 3551 ENSG00000104365 Immunodeficiency 15, 615592 (3), Autosomal recessive Ikbkb (MGI:1338071)
chr8 42338451 42371812 8p11.2 8p11.21 174760 POLB Polymerase (DNA directed), beta POLB 5423 ENSG00000070501 Polb (MGI:97740)
chr8 42373193 42391321 8p11.2-p11.1 8p11.21 605417 DKK4 Dickkopf, Xenopus, homolog of, 4 DKK4 27121 ENSG00000104371 Dkk4 (MGI:2385299)
chr8 42391623 42405936 8p11.2 8p11.21 610029 VDAC3 Voltage-dependent anion channel 3 VDAC3 7419 ENSG00000078668 Vdac3 (MGI:106922)
chr8 42416461 42542212 8p11.21 8p11.21 158378 SLC20A2, MLVAR, GLVR2, IBGC1 Solute carrier family 20, phosphate transporter, member 2 (murine leukemia virus, amphotropic, receptor for) SLC20A2 6575 ENSG00000168575 Basal ganglia calcification, idiopathic, 1, 213600 (3), Autosomal dominant Slc20a2 (MGI:97851)
chr8 42697375 42737406 8p11.2 8p11.21 118508 CHRNB3 Cholinergic receptor, nicotinic, beta polypeptide-3 CHRNB3 1142 ENSG00000147432 Chrnb3 (MGI:106212)
chr8 42752619 42768785 8p11.21 8p11.21 606888 CHRNA6 Cholinergic receptor, neuronal nicotinic, alpha polypeptide 6 CHRNA6 8973 ENSG00000147434 Chrna6 (MGI:106213)
chr8 42836673 42843330 8p11.21 8p11.21 609520 THAP1, DYT6 THAP domain-containing protein 1 THAP1 55145 ENSG00000131931 Dystonia 6, torsion, 602629 (3), Autosomal dominant Thap1 (MGI:1921004)
chr8 42849636 42897293 8p11.2 8p11.21 614649 RNF170, SNAX1 RING finger protein 170 RNF170 81790 ENSG00000120925 Ataxia, sensory, 1, autosomal dominant, 608984 (3), Autosomal dominant Rnf170 (MGI:1924983)
chr8 42896889 43030538 8p11.21 8p11.21 607825 HOOK3, HK3 Hook, Drosophila, homolog of, 3 HOOK3 84376 ENSG00000168172 Hook3 (MGI:2443554)
chr8 43056298 43085787 8p22-q11 8p11.21 134635 FNTA Farnesyltransferase, CAAX box, alpha FNTA 2339 ENSG00000168522 related FNTAL1 on 11, FNTAL2 on 13 Fnta (MGI:104683)
chr8 43093505 43123179 8p11 8p11.21 615247 POMK, SGK196, MDDGA12, MDDGC12 Protein-O-mannose kinase POMK 84197 ENSG00000185900 mutation in 1 MDDGC12 family has been reported Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3), Autosomal recessive; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3), Autosomal recessive Pomk (MGI:1921903)
chr8 43140448 43202826 8p11.1 8p11.2-p11.1 610453 HGSNAT, TMEM76, MPS3C, RP73 Heparan-alpha-glucosaminide N-acetyltransferase HGSNAT 138050 ENSG00000165102 Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3), Autosomal recessive; Retinitis pigmentosa 73, 616544 (3), Autosomal recessive Hgsnat (MGI:1196297)
chr8 45200000 145138636 8q 600668 CCAL1 Chondrocalcinosis 1 CCAL1 882 Chondrocalcinosis with early-onset osteoarthritis, 600668 (2), Autosomal dominant
chr8 45200000 145138636 8q 109640 GPB Glycerol phosphatase, beta-
chr8 45200000 145138636 8q 606789 HBFQTL4 Fetal hemoglobin quantitative trait locus 4 171515 Fetal hemoglobin quantitative trait locus 4, 606789 (2)
chr8 45200000 72000000 8q11.1-q13.3 128700 PAFC Preauricular fistulae, congenital 404715 between D8S532 and D8S279 ?Preauricular fistulae, congenital, 128700 (2), Autosomal dominant
chr8 46840885 46855784 8q11.2 8q11.1 609543 BEYLA BEYLA gene LINC00293 497634
chr8 47200000 69600000 8q11.2-q13.2 609197 GCCD3, FGD3, GCCD2 Glucocorticoid deficiency 3 619477 between D8S285 and D8S1718 Glucocorticoid deficiency 3, 609197 (2), Autosomal recessive
chr8 47260877 47736000 8q11.21 8q11.21 615384 SPIDR, KIAA0146 Scaffolding protein involved in DNA repair SPIDR 23514 ENSG00000164808 Spidr (MGI:1924834)
chr8 47736913 47738163 8p11.2-p11.1 8q11.21 116898 CEBPD CCAAT/enhancer-binding protein (C/EBP), delta CEBPD 1052 ENSG00000221869 earlier mapped to 8q11 Cebpd (MGI:103573)
chr8 47773107 47960182 8q11 8q11.21 600899 PRKDC, HYRC1, DNPK1, IMD26 Protein kinase, DNA-activated, catalytic polypeptide (hyperradiosensitivity of murine SCID mutation, complementing-1) PRKDC 5591 ENSG00000253729 Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3), Autosomal recessive Prkdc (MGI:104779)
chr8 47960202 47978159 8q11.2 8q11.21 602638 MCM4, NKGCD, NKCD, IMD54 Minichromosome maintenance deficient, S. cerevisiae, homolog of, 4 MCM4 4173 ENSG00000104738 Immunodeficiency 54, 609981 (3), Autosomal recessive Mcm4 (MGI:103199)
chr8 47997526 48063541 8q11.21 8q11.21 603001 UBE2V2, UEV2, DDVIT1, EDPF1, MMS2 Ubiquitin-conjugating enzyme E2 variant 2 UBE2V2 7336 ENSG00000169139 Ube2v2 (MGI:1917870)
chr8 48917676 48921439 8q11 8q11.21 602150 SNAI2, SLUG, WS2D snail, Drosophila, homolog of, 2 (Neural crest transcription factor SLUG) SNAI2 6591 ENSG00000019549 Piebaldism, 172800 (3), Autosomal dominant; Waardenburg syndrome, type 2D, 608890 (3), Autosomal recessive Snai2 (MGI:1096393)
chr8 49909725 50796655 8q11 8q11.21 608714 SNTG1, SYN4 Syntrophin, gamma-1 SNTG1 54212 ENSG00000147481 implicated in idiopathic scoliosis Sntg1 (MGI:1918346)
chr8 51319574 51809444 8q11 8q11.22-q11.23 615904 PXDNL, PMR1, VPO2 Peroxidasin, Drosophila, homolog-like PXDNL 137902 ENSG00000147485
chr8 52110831 52409878 8q11.2 8q11.23 617155 ST18, ZNF387, KIAA0535 Suppression of tumorigenicity 18 ST18 9705 ENSG00000147488 St18 (MGI:2446700)
chr8 52622457 52714465 8q11 8q11.23 606837 RB1CC1, CC1, KIAA0203 RB1-inducible coiled-coil 1 RB1CC1 9821 ENSG00000023287 Breast cancer, somatic, 114480 (3) Rb1cc1 (MGI:1341850)
chr8 52939907 52940893 8q11.23 8q11.23 600730 NPBWR1, GPR7 Neuropeptides B and W receptor 1 NPBWR1 2831 ENSG00000183729 previously assigned to 10q11.2-q21.1 by FISH Npbwr1 (MGI:891989)
chr8 53225715 53251696 8q11.2 8q11.23 165196 OPRK1 Opiate receptor, kappa-1 OPRK1 4986 ENSG00000082556 Oprk1 (MGI:97439)
chr8 53966553 54022455 8q11.23 8q11.23 601425 TCEA1, TF2S, GTF2S Transcription elongation factor A, SII, 1 TCEA1 6917 ENSG00000187735 previously mapped to 3p22-p21.3 Tcea1 (MGI:1196624)
chr8 54046366 54102016 Chr.8 8q11.23 605599 LYPLA1 Lysophospholipase I LYPLA1 10434 ENSG00000120992 Lypla1 (MGI:1344588)
chr8 54135220 54148513 8q11.2-q13 8q11.23 611828 MRPL15 Mitochondrial ribosomal protein L15 MRPL15 29088 ENSG00000137547 Mrpl15 (MGI:1351639)
chr8 54457934 54460895 8q12-q13 8q11.23 610928 SOX17, VUR3 SRY-box 17 SOX17 64321 ENSG00000164736 Vesicoureteral reflux 3, 613674 (3), Autosomal dominant Sox17 (MGI:107543)
chr8 54509447 54630833 8q11-q13 8q11.2-q12.1 603937 RP1, ORP1 Oxygen-regulated photoreceptor protein-1 (retinitis pigmentosa-1) RP1 6101 ENSG00000104237 Retinitis pigmentosa 1, 180100 (3), Autosomal recessive, Autosomal dominant Rp1 (MGI:1341105)
chr8 54600000 60600000 8q12.1 612587 ANIB10 Aneurysm, intracranial berry, 10 100271689 associated with rs10958409 {Aneurysm, intracranial berry, 10}, 612587 (2)
chr8 54600000 65100000 8q12 608765 IS3 Scoliosis, isolated, susceptibility to, 3 {Scoliosis, isolated, susceptibility to, 3}, 608765 (2)
chr8 54600000 72000000 8q12-q13 611046 MTBS2 Mycobacterium tuberculosis, susceptibility to, 2 100188829 max lod at D8S1723 {Mycobacterium tuberculosis, susceptibility to, 2}, 611046 (2)
chr8 55773231 55826444 8q11 8q12.1 606461 TGS1, NCOA6IP, PIMT Trimethylguanosine synthase, S. cerevisiae, homolog of TGS1 96764 ENSG00000137574 Tgs1 (MGI:2151797)
chr8 55876040 56012446 8q13-qter 8q12.1 165120 LYN Yamaguchi sarcoma viral (v-yes-1) related oncogene homolog LYN 4067 ENSG00000254087 Lyn (MGI:96892)
chr8 56068179 56074580 8q12.1 8q12.1 603682 RPS20 Ribosomal protein S20 RPS20 6224 ENSG00000008988 Rps20 (MGI:1914677)
chr8 56112941 56113981 8q11 8q12.1 190060 MOS Oncogene MOS, Moloney murine sarcoma virus MOS 4342 ENSG00000172680 Mos (MGI:97052)
chr8 56160908 56211326 8q12 8q12.1 603026 PLAG1, SGPA, PSA Pleomorphic adenoma gene 1 PLAG1 5324 ENSG00000181690 fused with CTNNB1 in SGPA Adenomas, salivary gland pleomorphic, somatic, 181030 (3) Plag1 (MGI:1891916)
chr8 56211637 56218797 8q12 8q12.1 611238 CHCHD7 Coiled-coil-helix-coiled-coil-helix domain-containing protein 7 CHCHD7 79145 ENSG00000170791 Chchd7 (MGI:1913683)
chr8 56299647 56320775 8q12.1 8q12.1 608989 RDHE2 Retinal dehydrogenase, epidermal, 2 SDR16C5 195814 ENSG00000170786 Sdr16c5 (MGI:2668443)
chr8 56440953 56446733 8q23-q24 8q12.1 131330 PENK Proenkephalin PENK 5179 ENSG00000181195 Penk (MGI:104629)
chr8 56957928 56993873 8q12.1 8q12.1 614010 IMPAD1, GPAPP, IMPA3 Inositol monophosphatase domain-containing protein 1 IMPAD1 54928 ENSG00000104331 Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3), Autosomal recessive Impad1 (MGI:1915720)
chr8 57994508 58149717 8q12.1 8q12.1 611394 FAM110B, C8orf72 Family with sequence similarity 110, member B FAM110B 90362 ENSG00000169122 Fam110b (MGI:1916593)
chr8 58411263 58451507 8q12.1 8q12.1 610686 UBXN2B, LOC137886, p37 UBX domain protein 2B UBXN2B 137886 ENSG00000215114 Ubxn2b (MGI:1915303)
chr8 58490177 58500160 8q11-q12 8q12.1 118455 CYP7A1, CYP7 Cytochrome P450, subfamily VII (cholesterol 7-alpha-monooxygenase), polypeptide 1 CYP7A1 1581 ENSG00000167910 Cyp7a1 (MGI:106091)
chr8 58552923 58582859 8q12.1 8q12.1 602217 SDCBP, TACIP18, MDA9 Syndecan-binding protein SDCBP 6386 ENSG00000137575 Sdcbp (MGI:1337026)
chr8 58583503 58659844 8q12-q13 8q12.1 603043 NSMAF, FAN Neutral sphingomyelinase activation-associated factor NSMAF 8439 ENSG00000035681 Nsmaf (MGI:1341864)
chr8 58805417 59119292 8q12.1 8q12.1 606863 TOX, KIAA0808 Thymus high mobility group box protein, mouse, homolog of TOX 9760 ENSG00000198846 Tox (MGI:2181659)
chr8 60185419 60281422 8q11-q12 8q12.1 114815 CA8, CALS, CARP, CAMRQ3 Carbonic anhydrase VIII CA8 767 ENSG00000178538 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3), Autosomal recessive Car8 (MGI:88253)
chr8 60516909 60623643 8q12.1 8q12.1-q12.2 179509 RAB2, RAB2A Ras-associated protein RAB2 RAB2A 5862 ENSG00000104388 Rab2a (MGI:1928750)
chr8 60600000 85900000 8q12.2-q21.2 600257 DEL8q12q21, C8DELq12q21 Bor-Duane hydrocephalus contiguous gene syndrome (chromosome 8q12.1-q21.2 deletion syndrome) Bor-Duane hydrocephalus contiguous gene syndrome, 600257 (4), Autosomal dominant
chr8 60600000 85900000 8q12.2-q21.2 123155 HDCPH1 Hydrocephalus, autosomal dominant ?Hydrocephalus, autosomal dominant, 123155 (2), Autosomal dominant
chr8 60678743 60868027 8q12.1 8q12.2 608892 CHD7, HH5 Chromodomain helicase DNA binding protein 7 CHD7 55636 ENSG00000171316 CHARGE syndrome, 214800 (3), Autosomal dominant; Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3), Autosomal dominant Chd7 (MGI:2444748)
chr8 60964832 61501644 8q12.2 8q12.2-q12.3 611292 CLVS1, RLBP1L1, CRALBPL Clavesin 1 CLVS1 157807 ENSG00000177182 Clvs1 (MGI:1921688)
chr8 61500555 61714639 8q12.1 8q12.3 600582 ASPH, HAAH, FDLAB Aspartate beta-hydroxylase (junctin; junctate) ASPH 444 ENSG00000198363 Traboulsi syndrome, 601552 (3), Autosomal recessive Asph (MGI:1914186)
chr8 62248941 62999651 8q12.13 8q12.3 612872 NKAIN3 Na+/K+ transporting ATPase-interacting 3 NKAIN3 286183 Nkain3 (MGI:2444830)
chr8 63015078 63039050 8q12.3 8q12.3 601509 GGH Gamma-glutamyl hydrolase GGH 8836 ENSG00000137563 Ggh (MGI:1329035)
chr8 63059487 63086522 8q13.1-q13.3 8q12.3 600415 TTPA, TTP1, AVED Tocopherol, alpha, transfer protein TTPA 7274 ENSG00000137561 Ataxia with isolated vitamin E deficiency, 277460 (3), Autosomal recessive Ttpa (MGI:1354168)
chr8 64580237 64583633 8q13 8q12.3 613483 BHLHE22, BHLHB5, BETA3 Basic helix-loop-helix family, member E22 BHLHE22 27319 ENSG00000180828 Bhlhe22 (MGI:1930001)
chr8 64586592 64798790 8q21.3 8q12.3 603711 CYP7B1, CBAS3, SPG5A Cytochrome P450, subfamily VIIB (oxysterol 7-alpha-hydroxylase), polypeptide 1 CYP7B1 9420 ENSG00000172817 Bile acid synthesis defect, congenital, 3, 613812 (3), Autosomal recessive; Spastic paraplegia 5A, autosomal recessive, 270800 (3), Autosomal recessive Cyp7b1 (MGI:104978)
chr8 65100000 116700000 8q13-q23 607731 CMT2H Charcot-Marie-Tooth disease, axonal, type 2H 619496 between D8S1807 and D8S548 Charcot-Marie-Tooth disease, axonal, type 2H, 607731 (2), Autosomal recessive
chr8 65100000 72000000 8q13 600383 DEL8q13, C8DELq13 Mesomelia-synostoses syndrome (Chromosome 8q13 deletion syndrome) contiguous gene deletion of SULF1 and SLCO5A1 Mesomelia-synostoses syndrome, 600383 (4), Autosomal dominant
chr8 65100000 72000000 8q13 126800 DURS1, DUS Duane retraction syndrome 1 DURS1 10674 Duane retraction syndrome 1, 126800 (2), Autosomal dominant
chr8 65100000 92300000 8q13-q21 121210 FEB1 Febrile seizures, familial, 1 FEB1 2233 Febrile seizures, familial, 1, 121210 (2), Autosomal dominant
chr8 65714333 65841733 8q13-q22 8q13.1 171885 PDE7A, HCP1 Phosphodiesterase-7A PDE7A 5150 ENSG00000205268 Pde7a (MGI:1202402)
chr8 66014977 66101242 8q13.1 8q13.1 613945 DNAJC5B DNAJ/HSP40 homolog, subfamily C, member 5, beta DNAJC5B 85479 ENSG00000147570 Dnajc5b (MGI:1913576)
chr8 66112666 66175484 8q13.1 8q13.1 606469 TRIM55, RNF29, MURF2 Tripartite motif containing 55 TRIM55 84675 ENSG00000147573 Trim55 (MGI:3036269)
chr8 66176376 66178644 8q13 8q13.1 122560 CRH Corticotropin releasing hormone CRH 1392 ENSG00000147571 Crh (MGI:88496)
chr8 66432482 66468808 8q13.1 8q13.1 611083 ADHFE1, HOT, ADH8 Alcohol dehydrogenase, iron-containing, 1 ADHFE1 137872 ENSG00000147576 Adhfe1 (MGI:1923437)
chr8 66562174 66613248 8q22 8q13.1 159405 MYBL1 Avian myeloblastosis viral (v-myb) oncogene homolog like-1 MYBL1 4603 ENSG00000185697 Mybl1 (MGI:99925)
chr8 66630252 66667216 8q13 8q13.1 611745 VCPIP1 VCIP135, KIAA1850 VCP/p47 complex-interacting protein 1 VCPIP1 80124 ENSG00000175073 Vcpip1 (MGI:1917925)
chr8 66712417 66862021 8q12.3-q13.1 8q13.1 607591 SGK3, SGKL, CISK Serum/glucocorticoid-regulated kinase 3 SGK3 23678 ENSG00000104205 Sgk3 (MGI:2182368)
chr8 66870748 66926435 8q13.1 8q13.1 617545 MCMDC2, C8orf45 Minichromosome maintenance domain-containing protein 2 MCMDC2 157777 ENSG00000178460 Mcmdc2 (MGI:3045334)
chr8 66921689 66925540 8q13 8q13.1 612215 SNHG6, U87HG Small nucleolar RNA host gene 6 SNHG6 641638
chr8 66922473 66922548 8q13 8q13.1 612216 SNORD87, U87 Small nucleolar RNA, C/D box, 87 SNORD87 641648 within intron 2 of SNHG6
chr8 66987675 67028550 8q13.1 8q13.1 617720 PPP1R42, TLRR, LRRC67 Protein phosphatase 1, rebulatory subunit 42 PPP1R42 286187 ENSG00000178125 Ppp1r42 (MGI:1921138)
chr8 67043078 67062326 8q13.2 8q13.1 604850 COPS5, JAB1, SGN5 COP9, subunit 5 COPS5 10987 ENSG00000121022 Cops5 (MGI:1349415)
chr8 67062416 67198002 8q13.2 8q13.1-q13.2 611654 CSPP1, CSPP, JBTS21 Centrosome spindle pole-associated protein 1 CSPP1 79848 ENSG00000104218 Joubert syndrome 21, 615636 (3), Autosomal recessive Cspp1 (MGI:2681832)
chr8 67174297 67343823 8q13 8q13.2 604141 ARFGEF1, ARFGEP1, BIG1, P200 ADP-ribosylation factor guanine nucleotide exchange factor 1 ARFGEF1 10565 ENSG00000066777 Arfgef1 (MGI:2442988)
chr8 67422169 67747113 8q13 8q13.2 609562 CPA6, CPAH, ETL5, FEB11 Carboxypeptidase A6 CPA6 57094 ENSG00000165078 Epilepsy, familial temporal lobe, 5, 614417 (3), Autosomal recessive, Autosomal dominant; Febrile seizures, familial, 11, 614418 (3), Autosomal recessive Cpa6 (MGI:3045348)
chr8 67951917 68237032 8q13.1-q13.2 8q13.2 612139 PREX2, DEPDC2 Phosphatidylinositol 3,4,5-trisphosphate-dependent RAC exchanger 2 PREX2 80243 ENSG00000046889 Prex2 (MGI:1923385)
chr8 69466623 69660911 8q13.3 8q13.2-q13.3 610012 SULF1, KIAA1077 Sulfatase 1 SULF1 23213 ENSG00000137573 Sulf1 (MGI:2138563)
chr8 69667045 69835063 8q13.3 8q13.3 613543 SLCO5A1, OATPRP4, SLC21A15, OATPJ, OATP5A1 Solute carrier organic anion transporter family, member 5A1 SLCO5A1 81796 ENSG00000137571 Slco5a1 (MGI:2443431)
chr8 70051612 70071326 8q13.3 8q13.3 611781 PRDM14, PFM11 PR domain-containing protein 14 PRDM14 63978 ENSG00000147596 Prdm14 (MGI:3588194)
chr8 70109761 70405389 8q13.2-q13.3 8q13.3 601993 NCOA2, GRIP1, TIF2, SRC2 Nuclear receptor coactivator 2 NCOA2 10499 ENSG00000140396 Ncoa2 (MGI:1276533)
chr8 70573217 70608458 Chr.8 8q13.3 605190 TRAM Translocating chain-associating membrane protein TRAM1 23471 ENSG00000067167 Tram1 (MGI:1919515)
chr8 71197432 71548129 8q13.3 8q13.3 601653 EYA1, BOR, BOS1, OFC1 Eyes absent, Drosophila, homolog of, 1 EYA1 2138 ENSG00000104313 mutation identified in 1 OFC1 family Anterior segment anomalies with or without cataract, 602588 (3), Autosomal dominant; Branchiootic syndrome 1, 602588 (3), Autosomal dominant; Branchiootorenal syndrome 1, with or without cataracts, 113650 (3), Autosomal dominant; ?Otofaciocervical syndrome, 166780 (3), Autosomal dominant Eya1 (MGI:109344)
chr8 71841541 71844495 8q13.3 8q13.3 603628 MSC, ABF1, MYOR Musculin MSC 9242 ENSG00000178860 Msc (MGI:1333884)
chr8 72000000 74600000 8q21.11 614230 DEL8q21.11, C8DELq21.11 Chromosome 8q21.11 deletion syndrome contiguous gene deletion; minimal region (GRCh37, 8:77226464-77766239 Chromosome 8q21.11 deletion syndrome, 614230 (4), Autosomal dominant, Isolated cases
chr8 72000000 145138636 8q21.1-qter 138480 GLYB Glycine auxotroph B, complementation of hamster GLYB 2757 gly(-)B
chr8 72000000 105100000 8q21-q22 258500 OPA6 Optic atrophy 6 OPA6 777778 between D8S1702 and D8S1794 Optic atrophy 6, 258500 (2), Autosomal recessive
chr8 72021250 72094884 8q13 8q21.11 604775 TRPA1, ANKTM1, FEPS1 Transient receptor potential cation channel, subfamily A, member 1 (ankyrin-like protein with transmembrane domains 1) TRPA1 8989 ENSG00000104321 mutation identified in 1 FEPS1 family ?Episodic pain syndrome, familial, 1, 615040 (3), Autosomal dominant Trpa1 (MGI:3522699)
chr8 72537390 72945889 Chr.8 8q21.11 607738 KCNB2, KV2.2 Potassium channel, voltage-gated, shab-related subfamily, member 2 KCNB2 9312 ENSG00000182674 Kcnb2 (MGI:99632)
chr8 73008855 73047751 8q13 8q21.11 600951 TERF1, TRF1 Telomeric repeat binding factor 1 TERF1 7013 ENSG00000147601 Terf1 (MGI:109634)
chr8 73290638 73294425 8q 8q21.11 604166 RPL7 Ribosomal protein L7 RPL7 6129 ENSG00000147604 pseudogene on chr.5 Rpl7 (MGI:98073)
chr8 73294601 73325284 Chr.8 8q21.11 607599 RDH10 Retinol dehydrogenase 10 RDH10 157506 ENSG00000121039 Rdh10 (MGI:1924238)
chr8 73420368 73747707 8q13-q21.1 8q21.11 605920 STAU2 Staufen, Drosophila, homolog of, 2 STAU2 27067 ENSG00000040341 Stau2 (MGI:1352508)
chr8 73780096 73878909 8q13-q21.1 8q21.11 614277 UBE2W, UBC16 Ubiquitin-conjugating enzyme 2W UBE2W 55284 ENSG00000104343 Ube2w (MGI:1914049)
chr8 73945137 73972286 Chr.8 8q21.11 600788 TCEB1 Transcription elongation factor B, polypeptide 1, 15kD (elongin C) ELOC 6921 ENSG00000154582 Eloc (MGI:1915173)
chr8 73976141 73982782 8q21.11 8q21.11 612418 TMEM70, MC5DN2 Transmembrane protein 70 TMEM70 54968 ENSG00000175606 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3), Autosomal recessive Tmem70 (MGI:1915068)
chr8 73991274 74099806 8q21.11 8q21.11 605243 LY96, MD2 Lymphocyte antigen 96 LY96 23643 ENSG00000154589 Ly96 (MGI:1341909)
chr8 74234699 74321544 8q21 8q21.11 605266 JPH1, JP1, CMT2K Junctophilin 1 JPH1 56704 ENSG00000104369 mutation identified in 1 CMT2K family ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, 607831 (3), Autosomal recessive, Autosomal dominant Jph1 (MGI:1891495)
chr8 74350382 74488866 8q21.11 8q21.11 606598 GDAP1, CMT4A, CMT2K, CMTRIA Ganglioside-induced differentiation-associated protein 1 GDAP1 54332 ENSG00000104381 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3), Autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3), Autosomal recessive; Charcot-Marie-Tooth disease, type 4A, 214400 (3), Autosomal recessive Gdap1 (MGI:1338002)
chr8 74700000 83500000 8q21.13 612578 STQTL15 Stature quantitative trait locus 15 100270801 associated with rs2220456 {Stature QTL 15}, 612578 (2)
chr8 74824536 74855043 8q21.13 8q21.13 607076 PI15, P25TI Protease inhibitor 15 PI15 51050 ENSG00000137558 Pi15 (MGI:1934659)
chr8 75407566 75566842 8q21 8q21.13 605966 HNF4G Hepatocyte nuclear factor 4-gamma HNF4G 3174 ENSG00000164749 Hnf4g (MGI:1353604)
chr8 76681218 76867284 8q21.12 8q21.13 606940 ZFHX4, ZFH4 Zinc finger homeobox 4 ZFHX4 79776 ENSG00000091656 ?Ptosis, congenital, 178300 (2), Autosomal dominant Zfhx4 (MGI:2137668)
chr8 76980257 77001043 8q21.1 8q21.13 170993 PEX2, PAF1, PMP35, PBD5A, PBD5B, PXMP3 Peroxisome biogenesis factor 2 PEX2 5828 ENSG00000164751 Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3), Autosomal recessive; Peroxisome biogenesis disorder 5B, 614867 (3), Autosomal recessive Pex2 (MGI:107486)
chr8 78516100 78605266 Chr.8 8q21.13 606059 PKIA Protein kinase, cAMP-dependent catalytic, inhibitor alpha PKIA 5569 ENSG00000171033 Pkia (MGI:104747)
chr8 78675869 78806829 8q12-q13 8q21.13 146660 IL7 Interleukin-7 IL7 3574 ENSG00000104432 Il7 (MGI:96561)
chr8 79610813 79666174 8q21.13 8q21.13 600621 STMN2, SCGN10, SCG10 Stathmin-like 2 STMN2 11075 ENSG00000104435 Stmn2 (MGI:98241)
chr8 79918859 80030270 8q21.1-q21.3 8q21.13 611990 MRPS28, MRPS35 Mitochondrial ribosomal protein S28 MRPS28 28957 ENSG00000147586 Mrps28 (MGI:1913480)
chr8 80034867 80171658 8q21 8q21.13 604068 TPD52, D52 Tumor protein D52 TPD52 7163 ENSG00000076554 Tpd52 (MGI:107749)
chr8 80967809 81112067 Chr.8 8q21.13 605767 PAG Phosphoprotein associated with glycosphingolipid-enriched microdomains PAG1 55824 ENSG00000076641 Pag1 (MGI:2443160)
chr8 81280482 81284776 8q21.13 8q21.13 605168 FABP5, PAFABP, EFABP Fatty acid-binding protein 5 FABP5 2171 ENSG00000164687 Fabp5 (MGI:101790)
chr8 81440325 81447522 8q21.3-q22.1 8q21.13 170715 PMP2 Peripheral myelin protein-2 PMP2 5375 ENSG00000147588 not involved in CMT4A Pmp2 (MGI:102667)
chr8 81478496 81483237 8q21 8q21.13 600434 FABP4 Fatty acid-binding protein-4, adipocyte FABP4 2167 ENSG00000170323 Fabp4 (MGI:88038)
chr8 81656915 81686353 8q21.13-q21.3 8q21.13 602064 IMPA1, MRT59 Inositol(myo)-1(or 4)-monophosphatase-1 IMPA1 3612 ENSG00000133731 Mental retardation, autosomal recessive 59, 617323 (3), Autosomal recessive Impa1 (MGI:1933158)
chr8 81732452 81759514 8q21.12 8q21.13 610899 CHMP4C, SNF7-3 CHMP family, member 4C CHMP4C 92421 ENSG00000164695 Chmp4c (MGI:1913621)
chr8 81799582 81842325 8q21.13 8q21.13 614903 SNX16 Sorting nexin 16 SNX16 64089 ENSG00000104497 Snx16 (MGI:1921968)
chr8 84182764 84921843 8q21.2 8q21.2 614648 RALYL RALY-like protein RALYL 138046 ENSG00000184672 Ralyl (MGI:1924147)
chr8 85107087 85146079 8q21.2 8q21.2 617791 LRRCC1, CLERK, KIAA1764 Leucine-rich repeat- and coiled-coil domain-containing centrosomal protein 1 LRRCC1 85444 ENSG00000133739 Lrrcc1 (MGI:1918960)
chr8 85177383 85214517 8q21.2 8q21.2 600967 E2F5 E2F transcription factor 5 E2F5 1875 ENSG00000133740 E2f5 (MGI:105091)
chr8 85328228 85378153 8q22 8q21.2 114800 CA1 Carbonic anhydrase I CA1 759 ENSG00000133742 Car1 (MGI:88268)
chr8 85438826 85449039 8q22 8q21.2 114750 CA3 Carbonic anhydrase III CA3 761 ENSG00000164879 Car3 (MGI:88270)
chr8 85463901 85481491 8q22 8q21.2 611492 CA2 Carbonic anhydrase II CA2 760 ENSG00000104267 CA1, CA2 linked in monkey and mouse Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3), Autosomal recessive Car2 (MGI:88269)
chr8 86213908 86230374 8q21.3 8q21.3 617256 SLC7A13, AGT1, XAT2 Solute carrier family 7, member 13 SLC7A13 157724 ENSG00000164893 Slc7a13 (MGI:1921337)
chr8 86342659 86468353 8q21 8q21.3 602307 WWP1, TIUL1 WW domain-containing protein 1 WWP1 11059 ENSG00000123124 Wwp1 (MGI:1861728)
chr8 86467054 86514347 8q21.3 8q21.3 611871 FAM82B, RMD1 Family with sequence similarity 82, member B RMDN1 51115 ENSG00000176623 Rmdn1 (MGI:1913552)
chr8 86514421 86561497 8q21.3 8q21.3 604207 CPNE3, CPN3 Copine III CPNE3 8895 ENSG00000085719 Cpne3 (MGI:1917818)
chr8 86573607 86743674 8q21-q22 8q21.3 605080 CNGB3, ACHM3, ACHM1 Cyclic nucleotide-gated channel, beta-3 CNGB3 54714 ENSG00000170289 Achromatopsia 3, 262300 (3), Autosomal recessive; Macular degeneration, juvenile, 248200 (3), Autosomal recessive Cngb3 (MGI:1353562)
chr8 88032008 88327487 8q21 8q21.3 602262 MMP16 Matrix metalloproteinase 16 (membrane-inserted) MMP16 4325 ENSG00000156103 Mmp16 (MGI:1276107)
chr8 89757746 89791063 8q21.3 8q21.3 603455 RIPK2, CARDIAK, RIP2, RICK Receptor-interacting serine/threonine kinase 2 RIPK2 8767 ENSG00000104312 Ripk2 (MGI:1891456)
chr8 89901867 89935613 8q21.3 8q21.3 604598 OSGIN2, C8orf1 Oxidative stress-induced growth inhibitor family member 2 OSGIN2 734 ENSG00000164823 Osgin2 (MGI:2384798)
chr8 89933335 89984723 8q21 8q21.3 602667 NBN, NBS1 Nibrin NBN 4683 ENSG00000104320 Aplastic anemia, 609135 (3); Leukemia, acute lymphoblastic, 613065 (3); Nijmegen breakage syndrome, 251260 (3), Autosomal recessive Nbn (MGI:1351625)
chr8 90001351 90053632 8q21.3 8q21.3 222745 DECR1 2,4-dienoyl CoA reductase DECR1 1666 ENSG00000104325 Decr1 (MGI:1914710)
chr8 90058607 90082880 8q21.3-q22.1 8q21.3 114050 CALB1 Calbindin 1, 28kD CALB1 793 ENSG00000104327 Calb1 (MGI:88248)
chr8 90994270 91040974 8q21.2 8q21.3 609864 TMEM55A Transmembrane protein 55A PIP4P2 55529 ENSG00000155099 Tmem55a (MGI:1919769)
chr8 91070195 91087094 8q21.3 8q21.3 612021 OTUD6B, DUBA5, IDDFSDA OTU domain-containing protein 6B OTUD6B 51633 ENSG00000155100 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive Otud6b (MGI:1919451)
chr8 91954966 92103450 8q22 8q21.3 133435 RUNX1T1, CBFA2T1, AML1T1, ETO unt-related transcription factor 1, translocated to, 1, cyclin D-related RUNX1T1 862 ENSG00000079102 fused with AML1 in t(8;21) Runx1t1 (MGI:104793)
chr8 92300000 97900000 8q22.1 151200 DUP8q22.1, C8DUPq22.1 Chromosome 8q22.1 duplication syndrome (Leri pleonosteosis) duplication of 0.9-1.2 Mb on 8q22.1 Leri pleonosteosis chromosome duplication syndrome, 151200 (4), Autosomal dominant
chr8 92300000 105100000 8q22 145701 HTC1 Hypertrichosis universalis congenita, Ambras type HTC1 3341 ?Hypertrichosis universalis congenita, Ambras type, 145701 (2), Autosomal dominant
chr8 92300000 97900000 8q22.1 608156 NMLFS, DEL8q22.1, C8DELq22.1 Nablus mask-like facial syndrome (chromosome 8q22.1 deletion syndrome) Nablus mask-like facial syndrome, 608156 (4), Autosomal dominant, Isolated cases
chr8 93700251 93732369 8q22.1 8q22.1 617273 FAM92A, FAM92A1 Family with sequence similarity 92, member A FAM92A 137392 ENSG00000188343 Fam92a (MGI:1915349)
chr8 93754843 93832652 8q21.13-q22.1 8q22.1 609884 TMEM67, MKS3, JBTS6, NPHP11 Transmembrane protein 67 (meckelin) TMEM67 91147 ENSG00000164953 {Bardet-Biedl syndrome 14, modifier of}, 615991 (3), Autosomal recessive; COACH syndrome, 216360 (3), Autosomal recessive; Joubert syndrome 6, 610688 (3), Autosomal recessive; Meckel syndrome 3, 607361 (3), Autosomal recessive; Nephronophthisis 11, 613550 (3), Autosomal recessive Tmem67 (MGI:1923928)
chr8 93916854 93926067 8q22.1 8q22.1 605993 PDP1, PPM2C, PDPC Pyruvate dehydrogenase phosphatase catalytic subunit 1 PDP1 54704 ENSG00000164951 Pyruvate dehydrogenase phosphatase deficiency, 608782 (3), Autosomal recessive Pdp1 (MGI:2685870)
chr8 94127161 94217302 8q22.1 8q22.1 603017 CDH17, CDH16, HPT1 Cadherin-17, liver-intestine CDH17 1015 ENSG00000079112 Cdh17 (MGI:1095414)
chr8 94249248 94262344 8q13-q21 8q22.1 600164 GEM GTP-binding protein overexpressed in skeletal muscle GEM 2669 ENSG00000164949 Gem (MGI:99844)
chr8 94371959 94475114 8q21.3-q22 8q22.1 604289 RAD54B RAD54, S. cerevisiae, homolog of, B RAD54B 25788 ENSG00000265817 Colon cancer, somatic, 114500 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3) Rad54b (MGI:3605986)
chr8 94427711 94436951 8q22.1 8q22.1 616306 FSBP Fibrinogen silencer-binding protein FSBP 100861412 ENSG00000265817 Fsbp (MGI:5301008)
chr8 94487776 94553517 8q22.1 8q22.1 616447 KIAA1429 KIAA1429 gene VIRMA 25962 ENSG00000164944 Virma (MGI:1913435)
chr8 94640998 94707465 8q22.1 8q22.1 612959 ESRP1, RMB35A Epithelial splicing regulatory protein 1 ESRP1 54845 ENSG00000104413 Esrp1 (MGI:1917326)
chr8 94719707 94793847 8q22.1 8q22.1 613895 DPY19L4 DPY19-like 4 DPY19L4 286148 ENSG00000156162 Dpy19l4 (MGI:2685869)
chr8 94823289 94894663 8q22.1 8q22.1 611351 INTS8, INT8 Integrator complex subunit 8 INTS8 55656 ENSG00000164941 Ints8 (MGI:1919906)
chr8 94880223 94896670 8q22.1 8q22.1 603775 CCNE2 Cyclin E2 CCNE2 9134 ENSG00000175305 Ccne2 (MGI:1329034)
chr8 94895767 95118495 8q22.1 8q22.1 612392 NDUFAF6, C8orf38 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 NDUFAF6 137682 ENSG00000156170 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial Ndufaf6 (MGI:1924197)
chr8 94925971 94949386 8q22 8q22.1 606185 TP53DINP1, P53DINP1 Tumor protein p53 inducible nuclear protein 1 TP53INP1 94241 ENSG00000164938 Trp53inp1 (MGI:1926609)
chr8 95133720 95156684 8q22.1 8q22.1 615208 PLEKHF2, EAPF, PHAFIN2 Pleckstrin homology domain-containing protein, family F, member 2 PLEKHF2 79666 ENSG00000175895 Plekhf2 (MGI:1919051)
chr8 95244912 95270603 8q22.1 8q22.1 614477 C8orf37, CORD16, RP64, BBS21 Chromosome 8 open reading frame 37 C8orf37 157657 ENSG00000156172 Bardet-Biedl syndrome 21, 617406 (3), Autosomal recessive; Cone-rod dystrophy 16, 614500 (3), Autosomal recessive; Retinitis pigmentosa 64, 614500 (3), Autosomal recessive 2610301B20Rik (MGI:1914407)
chr8 96142332 96160791 8q22.1 8q22.1 601147 GDF6, MCOP4, KFS1, MCOPCB6, LCA17, SYNS4 Growth/differentiation factor 6 GDF6 392255 ENSG00000156466 Klippel-Feil syndrome 1, autosomal dominant, 118100 (3), Autosomal dominant; Leber congenital amaurosis 17, 615360 (3), Autosomal recessive; Microphthalmia with coloboma 6, digenic, 613703 (3), Autosomal dominant; Microphthalmia, isolated 4, 613094 (3); Multiple synostoses syndrome 4, 617898 (3), Autosomal dominant Gdf6 (MGI:95689)
chr8 96226675 96235633 8q22 8q22.1 191330 UQCRB, UQBP, QPC, MC3DN3 Ubiquinol-cytochrome c reductase binding protein UQCRB 7381 ENSG00000156467 Mitochondrial complex III deficiency, nuclear type 3, 615158 (3), Autosomal recessive Uqcrb (MGI:1914780)
chr8 96239397 96261612 8q22.1 8q22.1 616930 MTERF3, MTERFD1 Transcription termination factor 3, mitochondrial MTERF3 51001 ENSG00000156469 Mterf3 (MGI:1913660)
chr8 96261885 96334551 8q22 8q22.1 612792 PTDSS1, PSS1, KIAA0024, LMHD Phosphatidylserine synthase 1 PTDSS1 9791 ENSG00000156471 Lenz-Majewski hyperostotic dwarfism, 151050 (3), Autosomal dominant Ptdss1 (MGI:1276575)
chr8 96493600 96611808 8q22-q24 8q22.1 142460 SDC2, HSPG1 Syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated; fibroglycan) SDC2 6383 ENSG00000169439 Sdc2 (MGI:1349165)
chr8 97273485 97277947 8q22 8q22.1 614721 TSPYL5, KIAA1750 TSPY-like 5 TSPYL5 85453 ENSG00000180543 Tspyl5 (MGI:2442458)
chr8 97643971 97730259 8q22-q23 8q22.1 610323 MTDH, AEG1, LYRIC Metadherin MTDH 92140 ENSG00000147649 Mtdh (MGI:1914404)
chr8 97775580 97852601 8q22.1 8q22.1 613296 LAPTM4B Lysosome-associated protein, transmembrane 4, beta LAPTM4B 55353 ENSG00000104341 pseudogenes on 1q, 3q,3p, 4q, and 7q33-q35 Laptm4b (MGI:1890494)
chr8 97869020 98036719 8q22 8q22.1-q22.2 602108 MATN2 Matrilin 2 MATN2 4147 ENSG00000132561 Matn2 (MGI:109613)
chr8 98041709 98045589 Chr.8 8q22.2 180467 RPL30 Ribosomal protein L30 RPL30 6156 ENSG00000156482 Rpl30 (MGI:98037)
chr8 98102338 98117189 8q22 8q22.2 602487 HRSP12, PSP, UK114 Heat-responsive protein 12 RIDA 10247 ENSG00000132541 Rida (MGI:1095401)
chr8 98117292 98159840 8q22 8q22.2 602486 POP1, ANXD2 Processing of precursor 1, S. cerevisiae, homolog of POP1 10940 ENSG00000104356 Anauxetic dysplasia 2, 617396 (3), Autosomal recessive Pop1 (MGI:1914974)
chr8 98427021 98430796 8q22 8q22.2 602906 KCNS2 Potassium voltage-gated channel, delayed-rectifier, subfamily S, member-2 KCNS2 3788 ENSG00000156486 Kcns2 (MGI:1197011)
chr8 98433047 98944328 8q22.2 8q22.2 605030 STK3, MST2, KRS1 Serine/threonine protein kinase 3 STK3 6788 ENSG00000104375 Stk3 (MGI:1928487)
chr8 98944402 98952103 8q23 8q22.2 611297 OSR2 Odd-skipped-related 2 OSR2 116039 ENSG00000164920 Osr2 (MGI:1930813)
chr8 99013084 99877585 8q22-q23 8q22.2 607817 VPS13B, KIAA0532, COH1 Vacuolar protein sorting 13, yeast, homolog of, B VPS13B 157680 ENSG00000132549 Cohen syndrome, 216550 (3), Autosomal recessive Vps13b (MGI:1916380)
chr8 99877994 99894013 8q22-q23 8q22.2 124090 COX6C Cytochrome c oxidase, subunit VIc COX6C 1345 ENSG00000164919 pseudogene on 16p12 Gm6265 (MGI:3649160)
chr8 99960935 100106945 8q22.2 8q22.2 615650 RGS22 Regulator of G protein signaling 22 RGS22 26166 ENSG00000132554 Rgs22 (MGI:3613651)
chr8 100133359 100150568 8q22.3 8q22.2 609110 FBXO43, EMI2, ERP1, FBX43 F-box only protein 43 FBXO43 286151 ENSG00000156509 Fbxo43 (MGI:1926053)
chr8 100150610 100154001 8p22 8q22.2 606033 POLR2K, RPB12 Polymerase II, RNA, subunit K POLR2K 5440 ENSG00000147669 Polr2k (MGI:102725)
chr8 100157868 100241903 8q22 8q22.2 603395 SPAG1, CILD28 Sperm-associated antigen-1 SPAG1 6674 ENSG00000104450 Ciliary dyskinesia, primary, 28, 615505 (3), Autosomal recessive Spag1 (MGI:1349387)
chr8 100500000 105100000 8q22.3 149000 KTWS, KTS Klippel-Trenaunay-Weber syndrome 791122 translocation with 14q13 Klippel-Trenaunay-Weber syndrome, 149000 (2), Isolated cases
chr8 100500000 105100000 8q22.3 613318 MMD2 Miyoshi muscular dystrophy 2 100505381 max lod at D10S2325 Miyoshi muscular dystrophy 2, 613318 (2)
chr8 100702915 100722086 8q22 8q22.3 604679 PABPC1, PAB1, PABP1, PABP Polyadenylate-binding protein, cytoplasmic, 1 PABPC1 26986 ENSG00000070756 Pabpc1 (MGI:1349722)
chr8 100918575 100954067 8q22.3 8q22.3 601288 YWHAZ Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide YWHAZ 7534 ENSG00000164924 pseudogene on 2p25 Ywhaz (MGI:109484)
chr8 101492438 101678103 8q22 8q22.3 608576 GRHL2, TFCP2L3, DFNA28, ECTDS Grainyhead-like 2 GRHL2 79977 ENSG00000083307 Deafness, autosomal dominant 28, 608641 (3), Autosomal dominant; Ectodermal dysplasia/short stature syndrome, 616029 (3), Autosomal recessive Grhl2 (MGI:2182543)
chr8 101686541 102125080 8q22.2 8q22.3 606722 NCALD Neurocalcin, delta NCALD 83988 ENSG00000104490 Ncald (MGI:1196326)
chr8 102204500 102239117 8q23.1 8q22.3 604712 RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B Ribonucleotide reductase M2 B, TP53 inducible RRM2B 50484 ENSG00000048392 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3), Autosomal dominant Rrm2b (MGI:2155865)
chr8 102252272 102412688 8q22.3 8q22.3 608413 UBR5, EDD1, HYD, KIAA0896 Ubiquitin protein ligase E3 component n-recognin 5 UBR5 51366 ENSG00000104517 Ubr5 (MGI:1918040)
chr8 102551619 102561016 8q22 8q22.3 182878 ODF1 Outer dense fiber of sperm tails 1 ODF1 4956 ENSG00000155087 Odf1 (MGI:97424)
chr8 102648776 102655901 8q22.2 8q22.3 601878 KLF10, TIEG Kruppel-like factor 10 KLF10 7071 ENSG00000155090 Klf10 (MGI:1101353)
chr8 102826301 102864199 8q22.3 8q22.3 607909 AZIN1, OAZIN Antizyme inhibitor 1 AZIN1 51582 ENSG00000155096 Azin1 (MGI:1859169)
chr8 103021019 103073056 8q22.3 8q22.3 603097 ATP6V1C1, ATP6C, ATP6D ATPase, H+ transporting, lysosomal, 42-kD, V1 subunit C, isoform 1 ATP6V1C1 528 ENSG00000155097 Atp6v1c1 (MGI:1913585)
chr8 103140692 103230304 8q22.3 8q22.3 606602 BAALC Brain and acute leukemia gene, cytoplasmic BAALC 79870 ENSG00000164929 Baalc (MGI:1928704)
chr8 103298432 103332865 8q22.3-q23.1 8q22.3 603409 FZD6, NDNC10 Frizzled, Drosophila, homolog of, 6 FZD6 8323 ENSG00000164930 Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3), Autosomal recessive Fzd6 (MGI:108474)
chr8 103371514 103383004 8q22.3 8q22.3 610635 CTHRC1 Collagen triple-helix repeat-containing protein 1 CTHRC1 115908 ENSG00000164932 Barrett esophagus/esophageal adenocarcinoma, 614266 (3) Cthrc1 (MGI:1915838)
chr8 103398637 103415334 8q21.2 8q22.3 610815 SLC25A32, MFT, RREI Solute carrier family 25 (mitochondrial carrier, folate), member 32 SLC25A32 81034 ENSG00000164933 mutation identified in 1 RREI patient ?Exercise intolerance, riboflavin-responsive, 616839 (3), Autosomal recessive Slc25a32 (MGI:1917156)
chr8 103414713 103443452 8q22.3 8q22.3 616196 DCAF13, WDSOF1 DDB1- and CUL4-associated factor 13 DCAF13 25879 ENSG00000164934 Dcaf13 (MGI:2684929)
chr8 103499933 104254429 8q23 8q22.3 606630 RIMS2, KIAA0751, RIM2, OBOE Regulating synaptic membrane exocytosis-2 RIMS2 9699 ENSG00000176406 Rims2 (MGI:2152972)
chr8 104339086 104356873 8q22 8q22.3 605933 TM7SF4, DCSTAMP, FIND Transmembrane 7 superfamily, member 4 DCSTAMP 81501 ENSG00000164935 Dcstamp (MGI:1923016)
chr8 104379423 104467073 8q22 8q22.3 613326 DPYS, DHP Dihydropyrimidinase DPYS 1807 ENSG00000147647 Dihydropyrimidinuria, 222748 (3), Autosomal recessive Dpys (MGI:1928679)
chr8 105100000 116700000 8q23 612231 CRCS6 Colorectal cancer, susceptibility to, 6 100187710 associated with rs16892766 {Colorectal cancer, susceptibility to, 6}, 612231 (2)
chr8 105100000 116700000 8q23 602429 GLC1D Glaucoma 1, open angle, D GLC1D 2724 Glaucoma 1D, primary open angle, 602429 (2)
chr8 105100000 116700000 8q23 607053 HDLCQ2 High density lipoprotein cholesterol level QTL 2 353127 [High density lipoprotein cholesterol level QTL 2], 607053 (2)
chr8 105100000 145138636 8q23-q24 140300 HT Hashimoto thyroiditis 140805 ?chr.12 Hashimoto thyroiditis, 140300 (2), Autosomal dominant
chr8 105100000 116700000 8q23 612729 LBMQTL1 Lean body mass quantitative trait locus 1 100294719 associated with rs16892496 and rs7832552 [Lean body mass QTL 1], 612729 (2)
chr8 105100000 145138636 8q23-q24 611376 MGS Mungan syndrome 100126595 between D8S1830 and D8S1799 Mungan syndrome, 611376 (2), Autosomal recessive
chr8 105100000 116700000 8q23 608796 MYMY3 Moyamoya disease 3 MYMY3 493818 max lod at D8S546 Moyamoya disease 3, 608796 (2)
chr8 105318858 105804538 8q23 8q23.1 603693 ZFPM2, FOG2, DIH3, SRXY9 Zinc finger protein, multitype 2 (friend of GATA2) ZFPM2 23414 ENSG00000169946 Diaphragmatic hernia 3, 610187 (3); Tetralogy of Fallot, 187500 (3), Autosomal dominant; 46XY sex reversal 9, 616067 (3), Autosomal dominant Zfpm2 (MGI:1334444)
chr8 106270177 106752693 8q23 8q23.1 605609 OXR1 Oxidation resistance 1 OXR1 55074 ENSG00000164830 ?pseudogene on chr.15 Oxr1 (MGI:2179326)
chr8 106759482 106809072 8q23 8q23.1 609747 ABRA, STARS Actin-binding RHO-activating protein ABRA 137735 ENSG00000174429 Abra (MGI:2444891)
chr8 107249481 107498054 8q22 8q23.1 601667 ANGPT1, ANG1 Angiopoietin-1 ANGPT1 284 ENSG00000154188 Angpt1 (MGI:108448)
chr8 107899315 108083684 8q23.1 8q23.1 610575 RSPO2, CRISTIN2 R-spondin family, member 2 RSPO2 340419 ENSG00000147655 Rspo2 (MGI:1922667)
chr8 108201742 108248733 8q22-q23 8q23.1 602210 EIF3E, EIF3S6, INT6 Eukaryotic translation initiation factor 3, subunit E (oncogene INT6) EIF3E 3646 ENSG00000104408 Eif3e (MGI:99257)
chr8 108443582 108489187 8q23.1 8q23.1 607722 EMC2, KIAA0103 ER membrane protein complex subunit 2 EMC2 9694 ENSG00000104412 Emc2 (MGI:1913986)
chr8 108606849 108787614 8q23.2 8q23.1 613935 TMEM74 Transmembrane protein 74 TMEM74 157753 ENSG00000164841 Tmem74 (MGI:2443417)
chr8 109085744 109119784 8q23 8q23.1 188545 TRHR Thyrotropin-releasing hormone receptor TRHR 7201 ENSG00000174417 Thyrotropin-releasing hormone resistance, generalized (3) Trhr (MGI:98824)
chr8 109240918 109334120 8q23 8q23.1 606109 CML66 Immunogenic tumor antigen CML66 NUDCD1 84955 ENSG00000120526 Nudcd1 (MGI:1914679)
chr8 109362476 109537213 8q23 8q23.1-q23.2 607843 PKHD1L1 PKHD1-like 1 PKHD1L1 93035 ENSG00000205038 Pkhd1l1 (MGI:2183153)
chr8 109539699 109565995 8q23 8q23.2 605772 EBAG9, RCAS1, EB9 Estrogen receptor-binding site-associated antigen 9 EBAG9 9166 ENSG00000147654 Ebag9 (MGI:1859920)
chr8 109573977 109691790 8q23 8q23.2 611568 GOLSYN, SYBU, KIAA1472 Golgi-localized syntaphilin-related protein SYBU 55638 ENSG00000147642 Sybu (MGI:2442392)
chr8 109963644 109975846 8q22.3-q24.1 8q23.2 608164 KCNV1, KV8.1 Potassium channel, voltage-gated, subfamily V, member 1 KCNV1 27012 ENSG00000164794 Kcnv1 (MGI:1914748)
chr8 112222927 113437498 8q23.3 8q23.3 608399 CSMD3, KIAA1894 Cub and Sushi multiple domains 3 CSMD3 114788 ENSG00000164796 Csmd3 (MGI:2386403)
chr8 115408495 115669636 8q24.12 8q23.3 604386 TRPS1 Zinc finger transcription factor TRPS1 TRPS1 7227 ENSG00000104447 Trichorhinophalangeal syndrome, type I, 190350 (3), Autosomal dominant; Trichorhinophalangeal syndrome, type III, 190351 (3), Autosomal dominant Trps1 (MGI:1927616)
chr8 116644815 116755822 8q24.11 8q23.3-q24.1 603912 EIF3H, EIF3S3 Eukaryotic translation initiation factor 3, subunit H EIF3H 8667 ENSG00000147677 Eif3h (MGI:1915385)
chr8 116700000 145138636 8q24 612113 BMND10 Bone mineral density quantitative trait locus 10 100188883 associated with rs6469804 and rs6993813 [Bone mineral density QTL 10], 612113 (2)
chr8 116700000 145138636 8q24 610649 BSZQTL3 Bone size quantitative trait locus 3 100188815 [Bone size quantitative trait locus 3], 610649 (2)
chr8 116700000 145138636 8q24 611469 CRCS2 Colorectal cancer, susceptibility to, 2 100188841 associated with rs7014346 {Colorectal cancer, susceptibility to, 2}, 611469 (2)
chr8 116700000 145138636 8q24 600131 ECA1 Epilepsy, childhood absence, 1 ECA1 50966 Epilepsy, childhood absence, 1, 600131 (2), Autosomal dominant
chr8 116700000 145138636 8q24 600669 EIG1 Epilepsy, idiopathic generalized, susceptibility to 1 EGI 1957 ?same as EBN2 {Epilepsy, idiopathic generalized, susceptibility to, 1}, 600669 (2), Autosomal dominant
chr8 116700000 145138636 8q24 601068 FAME1, BAFME1, MEBA Epilepsy, myoclonic, adult familial, 1 FCMTE1 50968 Epilepsy, myoclonic, familial adult, 1, 601068 (2), Autosomal dominant
chr8 116700000 145138636 8q24 611100 HPC10 Prostate cancer, hereditary, 10 100188834 strongest assoc. with rs1447295 {Prostate cancer, hereditary, 10}, 611100 (2)
chr8 116700000 145138636 8q24 167959 HPV18I1 Human papillomavirus type 18 integration site-1 HPV18I1 3260
chr8 116700000 126300000 8q24.1 275220 THM Tibial hemimelia 117193 ?Tibial hemimelia, 275220 (2), Autosomal recessive
chr8 116700000 126300000 8q24.11-q24.13 150230 TRPS2, LGCR, LGS Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome) contiguous gene syndrome involving TRPS1 and EXT1 Trichorhinophalangeal syndrome, type II, 150230 (4), Autosomal dominant
chr8 116845933 116874865 8q24 8q24.11 606462 RAD21, SCC1, NXP1, KIAA0078, CDLS4 Rad21, S. pombe, homolog of RAD21 5885 ENSG00000164754 Cornelia de Lange syndrome 4, 614701 (3), Autosomal dominant Rad21 (MGI:108016)
chr8 116950272 117176713 8q24.11 8q24.11 611145 SLC30A8, ZNT8 Solute carrier family 30 (zinc transporter), member 8 SLC30A8 169026 ENSG00000164756 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant Slc30a8 (MGI:2442682)
chr8 117520712 117540261 8q24.11 8q24.11 610237 MED30, TRAP25, THRAP6 Mediator complex subunit 30 MED30 90390 ENSG00000164758 Med30 (MGI:1917040)
chr8 117799362 118111818 8q24.11-q24.13 8q24.11 608177 EXT1 Exostosin 1 EXT1 2131 ENSG00000182197 distal to TRPS1 Chondrosarcoma, 215300 (3), Autosomal recessive; Exostoses, multiple, type 1, 133700 (3), Autosomal dominant Ext1 (MGI:894663)
chr8 118923556 118952143 8q24 8q24.12 602643 TNFRSF11B, OPG, OCIF, PDB5 Tumor necrosis factor receptor superfamily, member 11B (osteoprotegerin) TNFRSF11B 4982 ENSG00000164761 Paget disease of bone 5, juvenile-onset, 239000 (3), Autosomal recessive Tnfrsf11b (MGI:109587)
chr8 118952166 119108454 8q23-q24.1 8q24.12 607620 COLEC10, CLL1, 3MC3 Collectin 10 COLEC10 10584 ENSG00000184374 3MC syndrome 3, 248340 (3), Autosomal recessive Colec10 (MGI:3606482)
chr8 119416311 119424437 8q24.1 8q24.12 164958 NOV Nephroblastoma overexpressed gene NOV 4856 ENSG00000136999 proximal to MYC Nov (MGI:109185)
chr8 119557076 119673575 8q24.1 8q24.12 601060 ENPP2, PDNP2 Ectonucleotide pyrophosphatase/phosphodiesterase 2 ENPP2 5168 ENSG00000136960 Enpp2 (MGI:1321390)
chr8 119730772 119832857 8q24.12 8q24.12 604912 TAF2, TAF2B, TAFII150, CIF150, MRT40 TAF2 RAN polymerase II, TATA box-binding protein-associated factor, 150kD TAF2 6873 ENSG00000064313 Mental retardation, autosomal recessive 40, 615599 (3), Autosomal recessive Taf2 (MGI:2443028)
chr8 119833940 119855929 8q24.12 8q24.12 613203 DSCC1, DCC1 Defective in sister chromatid cohesion 1, S. cerevisiae, homolog of DSCC1 79075 ENSG00000136982 Dscc1 (MGI:1919357)
chr8 119873654 120056201 8q24.12 8q24.12 612974 DEPDC6, DEPTOR DEP domain-containing protein 6 DEPTOR 64798 ENSG00000155792 Deptor (MGI:2146322)
chr8 120124466 120373574 8q23 8q24.12 120324 COL14A1, UND Collagen, type XIV, alpha-1 (undulin) COL14A1 7373 ENSG00000187955 Col14a1 (MGI:1341272)
chr8 120395843 120445406 8q24.12 8q24.12 610200 MRPL13, RPML13, L13A Mitochondrial ribosomal protein L13 MRPL13 28998 ENSG00000172172 Mrpl13 (MGI:2137218)
chr8 120445397 120523634 8q24.1-q24.3 8q24.12 605927 MTBP Mouse double minute 2 homolog, binding protein of MTBP 27085 ENSG00000172167 Mtbp (MGI:2146005)
chr8 120535744 120812068 8q23-q24 8q24.12 600026 SNT2B1, A1B, SNTB1 Syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic basic component 1) SNTB1 6641 ENSG00000172164 Sntb1 (MGI:101781)
chr8 121500000 135400000 8q24.13-q24.22 612448 ARHI1 Age-related hearing impairment 1 100233147 between rs3765212 and rs4601326 {Age-related hearing impairment 1}, 612448 (2)
chr8 121500000 130400000 8q24.13-q24.21 614936 PPKP1B Keratoderma, palmoplantar, punctate type IB 101154752 between D8S1804 and D8S1720 Keratoderma, palmoplantar, punctate type IB, 614936 (2), Autosomal dominant
chr8 121613030 121641389 8q24.12 8q24.13 601636 HAS2 Hyaluronan synthase-2 HAS2 3037 ENSG00000170961 Has2 (MGI:107821)
chr8 121639345 121645324 8q24.13 8q24.13 614353 HAS2AS1, HASNT HAS2 antisense RNA 1 HAS2-AS1 594842
chr8 123013163 123042422 8q24.13 8q24.13 608813 DERL1, DER1 DER1-like domain family, member 1 DERL1 79139 ENSG00000136986 Derl1 (MGI:1915069)
chr8 123248449 123275540 8q 8q24.13 604764 ZHX1 Zinc finger and homeodomain protein 1 ZHX1 11244 ENSG00000165156 Zhx1 (MGI:109271)
chr8 123319849 123396464 8q24.13 8q24.13 611941 ATAD2, ANCCA ATPase family, AAA domain-containing, member 2 ATAD2 29028 ENSG00000156802 Atad2 (MGI:1917722)
chr8 123497886 123541252 8q24.13 8q24.13 606604 FBXO32, MAFBX, FLJ32424, ATROGIN1 F-box only protein 32 FBXO32 114907 ENSG00000156804 Fbxo32 (MGI:1914981)
chr8 123680793 123737425 8q24.1-q24.2 8q24.13 602573 ANX13, ISA Annexin XIII ANXA13 312 ENSG00000104537 Anxa13 (MGI:1917037)
chr8 124306188 124372698 8q24.13 8q24.13 616609 TMEM65 Transmembrane protein 65 TMEM65 157378 ENSG00000164983 Tmem65 (MGI:1922118)
chr8 124450806 124453025 8q24.13 8q24.13 611244 TRMT12, TRM12 tRNA methyltransferase 12, S. cerevisiae, homolog of TRMT12 55039 ENSG00000183665 Trmt12 (MGI:1915510)
chr8 124474766 124488617 8q24.1 8q24.13 603046 RNF139, TRC8, RCA1 RING finger protein 139 RNF139 11236 ENSG00000170881 Renal cell carcinoma, 144700 (3) Rnf139 (MGI:1923091)
chr8 124539101 124549985 8q13.3 8q24.13 601445 NDUFB9, UQOR22 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22) NDUFB9 4715 ENSG00000147684 mutation identified in 1 family ?Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufb9 (MGI:1913468)
chr8 124550769 124728506 8q24.1 8q24.13 608486 MTSS1, MIM, KIAA0429 Metastasis suppressor 1 MTSS1 9788 ENSG00000170873 Mtss1 (MGI:2384818)
chr8 124998477 125022282 8q24.1 8q24.13 602019 SQLE Squalene epoxidase SQLE 6713 ENSG00000104549 Sqle (MGI:109296)
chr8 125024259 125091818 8q24.13 8q24.13 610657 WSHC5, KIAA0196, SPG8, RTSC1 WASH complex, subunit 5 WASHC5 9897 ENSG00000164961 Ritscher-Schinzel syndrome 1, 220210 (3), Autosomal recessive; Spastic paraplegia 8, autosomal dominant, 603563 (3), Autosomal dominant Washc5 (MGI:2146110)
chr8 125091778 125367124 8q24.13 8q24.13 617246 NSMCE2, NSE2, MMS21 Non-SMC element 2, S. cerevisiae, homolog of NSMCE2 286053 ENSG00000156831 Seckel syndrome 10, 617253 (3), Autosomal recessive Nsmce2 (MGI:1915751)
chr8 125430289 125438404 8q24.13 8q24.13 609461 TRIB1, TRB1, SKIP1, C8FW Tribbles, Drosophila, homolog of, 1 TRIB1 10221 ENSG00000173334 Trib1 (MGI:2443397)
chr8 126300000 130400000 8q24.21 613032 GLM7 Glioma susceptibility 7 101409265 associated with rs55705857 {Glioma susceptibility 7}, 613032 (2)
chr8 126552437 126558497 8q24.21 8q24.21 609483 FAM84B, BCMP101 Family with sequence similarity 84, member B FAM84B 157638 ENSG00000168672 Fam84b (MGI:3026924)
chr8 127013153 127021013 8q24 8q24.21 616043 PCAT1 Prostate cancer-associated transcript 1, noncoding PCAT1 100750225
chr8 127072693 127082220 8q24.21 8q24.21 617678 PCAT2, PCA2, CARLO4 Prostate cancer-associated transcript 2, noncoding PCAT2 103164619
chr8 127079873 127092594 8q24 8q24.21 615452 PRNCR1, PCAT8 Prostate cancer-associated noncoding RNA 1 PRNCR1 101867536
chr8 127187784 127197626 8q24.21 8q24.21 617703 CASC19, LINC01245, CARLO6 Cancer susceptibility candidate 19, noncoding CASC19 103021165
chr8 127207381 127219267 8q24.21 8q24.21 617705 CCAT1, CARLO5 Colon cancer-associated transcript 1, noncoding CCAT1 100507056
chr8 127244636 127392630 8q24.21 8q24.21 617702 CASC21, LINC01244, CARLO2 Cancer susceptibility candidate 21, noncoding CASC21 103021164
chr8 127289675 127482138 8q24.21 8q24.21 617701 CASC8, LINC00860, CARLO1 Cancer susceptibility candidate 8, noncoding CASC8 727677
chr8 127415611 127417209 8q24.21 8q24.21 615739 POU5F1B, POU5F1P1, OCT4PG1 POU domain, class 5, transcription factor 1B POU5F1B 5462 ENSG00000212993
chr8 127700607 127733966 8q24.21 8q24.21 617704 CASC11, LINC00990, CARLO7 Cancer susceptibility candidate 11, noncoding CASC11 100270680
chr8 127735433 127742950 8q24.12-q24.13 8q24.21 190080 MYC Avian myelocytomatosis viral (v-myc) oncogene homolog MYC 4609 ENSG00000136997 cen-5'-3'-ter Burkitt lymphoma, 113970 (3), Isolated cases Myc (MGI:97250)
chr8 127794532 128101252 8q24 8q24.21 165140 PVT1 Oncogene PVT-1 (MYC activator) PVT1 5820
chr8 129351693 129680238 8q24.21 8q24.21 613040 CCD26, RAM Coiled-coil domain-containing protein 26 CCDC26 137196
chr8 129705902 129786887 8q24.1-q24.2 8q24.21 608384 GSDMC, MLZE Gasdermin C GSDMC 56169 ENSG00000147697 Gsdmc,Gsdmc4,Gsdmc3,Gsdmc2 (MGI:1933176,MGI:3580656,MGI:1921798,MGI:2146102)
chr8 130052103 130443847 8q24.1-q24.2 8q24.21-q24.22 605953 ASAP1, DDEF1 Arf GTPase-activating protein with SH3 domain, ankyrin repeat, and PH domain 1 ASAP1 50807 ENSG00000153317 Asap1 (MGI:1342335)
chr8 130780299 131041603 8q24.2 8q24.22 103070 ADCY8, ADCY3 Adenylyl cyclase-8, brain ADCY8 114 ENSG00000155897 Adcy8 (MGI:1341110)
chr8 131904087 132013641 8q24.2 8q24.22 611798 EFR3A, KIAA0143 EFR3, S. cerevisiae, homolog of, A EFR3A 23167 ENSG00000132294 Efr3a (MGI:1923990)
chr8 132024219 132059379 8q24 8q24.22 601658 OC90, PLA2L Otoconin 90 (phospholipase A2-like) OC90 729330 ENSG00000253117 PLA2L = fusion between HHLA1 and OC90 Oc90 (MGI:1313269)
chr8 132061485 132105264 8q24 8q24.22 604109 HHLA1 Human endogenous retrovirus-H long terminal repeat-associating 1 HHLA1 10086 ENSG00000132297 Hhla1 (MGI:3615329)
chr8 132120857 132480756 8q24 8q24.22 602232 KCNQ3, EBN2, BFNC2 Potassium voltage-gated channel, KQT-like subfamily, member 3 KCNQ3 3786 ENSG00000184156 Seizures, benign neonatal, 2, 121201 (3), Autosomal dominant Kcnq3 (MGI:1336181)
chr8 132570418 132685038 8q24.22 8q24.22 614930 LRRC6, LRTP, CILD19 Leucine-rich repeat-containing protein 6 LRRC6 23639 ENSG00000129295 Ciliary dyskinesia, primary, 19, 614935 (3), Autosomal recessive Lrrc6 (MGI:1859553)
chr8 132866942 133134901 8q24.2-q24.3 8q24.22 188450 TG, AITD3, TDH3 Thyroglobulin TG 7038 ENSG00000042832 distal to MYC {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3); Thyroid dyshormonogenesis 3, 274700 (3), Autosomal recessive Tg (MGI:98733)
chr8 133036727 133103065 8q24.2-q24.3 8q24.22 601099 SLA Src-like-adaptor SLA 6503 ENSG00000155926 in intron of TG Sla (MGI:104295)
chr8 133054958 133057766 8q24 8q24.22 617440 PTCSC1, NCRNA00197 Papillary thyroid carcinoma susceptibility candidate 1 gene PTCSC1 100302522
chr8 133190906 133231689 8q24.1-q24.3 8q24.22 603398 WISP1 Wnt-1 inducible signaling pathway protein 1 WISP1 8840 ENSG00000104415 Wisp1 (MGI:1197008)
chr8 133237170 133297586 8q24.3 8q24.22 605262 NDRG1, HMSNL, CMT4D N-myc downstream-regulated gene 1 NDRG1 10397 ENSG00000104419 Charcot-Marie-Tooth disease, type 4D, 601455 (3), Autosomal recessive Ndrg1 (MGI:1341799)
chr8 134477787 134713048 8q23-q24 8q24.22 610931 ZFAT1, ZNF406, AITD3 Zinc finger gene in autoimmune thyroid disease 1 ZFAT 57623 ENSG00000066827 {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3) Zfat (MGI:2681865)
chr8 135457460 135656515 8q24.2 8q24.23 610421 KHDRBS3, TSTAR, SALP, SLM2, ETOILE KH domain-containing, RNA-binding, signal transduction-associated protein 3 KHDRBS3 10656 ENSG00000131773 Khdrbs3 (MGI:1313312)
chr8 138588234 138914086 8q24.2 8q24.2-q24.3 610026 COL22A1 Collagen, type XXII, alpha-1 polypeptide COL22A1 169044 ENSG00000169436 Col22a1 (MGI:1916950)
chr8 138900000 145138636 8q24.3 616992 C8orf17, MOST1 Chromosome 8 open reading frame 17 C8orf17 100507249
chr8 138900000 145138636 8q24.3 612858 OFC12 Orofacial cleft 12 100302515 associated with rs987525 Orofacial cleft 12, 612858 (2)
chr8 139600837 139703134 8q24.1-q24.3 8q24.3 605874 KCNK9, TASK3 Potassium channel, subfamily K, member 9 KCNK9 51305 ENSG00000169427 Birk-Barel mental retardation dysmorphism syndrome, 612292 (3) Kcnk9 (MGI:3521816)
chr8 139727724 140458578 8q24.3 8q24.3 611966 TRAPPC9, NIBP, KIAA1882, MRT13 Trafficking protein particle complex 9 TRAPPC9 83696 ENSG00000167632 Mental retardation, autosomal recessive 13, 613192 (3), Autosomal recessive Trappc9 (MGI:1923760)
chr8 140511297 140517152 8q11-q12 8q24.3 607268 CHARC1, CHARC15, YCL1 Chromatin accessibility complex, subunit 1 CHRAC1 54108 ENSG00000104472 Chrac1 (MGI:2135796)
chr8 140520150 140642405 8q24 8q24.3 606229 AGO2, EIF2C2 Argonaute 2, RISC catalytic component AGO2 27161 ENSG00000123908 Ago2 (MGI:2446632)
chr8 140658381 141002078 8q24-qter 8q24.3 600758 PTK2, FADK PTK2 protein tyrosine kinase PTK2 5747 ENSG00000169398 Ptk2 (MGI:95481)
chr8 141128561 141195803 8q24.3 8q24.3 617503 DENND3, KIAA0870 DENN domain-containing protein 3 DENND3 22898 ENSG00000105339 Dennd3 (MGI:2146009)
chr8 141356484 141367264 8q24.2-q24.3 8q24.3 601908 GPR20 G protein-coupled receptor-20 GPR20 2843 ENSG00000204882 Gpr20 (MGI:2441803)
chr8 141391994 141432453 8q24.3 8q24.3 606449 PTP4A3, PRL3 Protein-tyrosine phosphatase, type 4A, 3 PTP4A3 11156 ENSG00000184489 Ptp4a3 (MGI:1277098)
chr8 142449702 142545008 8q24 8q24.3 602682 ADGRB1, BAI1, GDAIF Adhesion G protein-coupled receptor B1 ADGRB1 575 ENSG00000181790 Adgrb1 (MGI:1933736)
chr8 142611043 142614471 8q24 8q24.3 612461 ARC, KIAA0278 Activity-regulated cytoskeleton-associated protein ARC 23237 ENSG00000198576 Arc (MGI:88067)
chr8 142651500 142669993 8q24 8q24.3 603210 JRK, JH8 Jerky, mouse, homolog of JRK 8629 ENSG00000234616 Jrk (MGI:106214)
chr8 142670307 142682726 8q24.2 8q24.3 602470 PSCA Prostate stem cell antigen PSCA 8000 ENSG00000167653 Psca (MGI:1919623)
chr8 142700080 142704169 8q24.3 8q24.3 615093 LY6K Lymphocyte antigen 6 complex, locus K LY6K 54742 ENSG00000160886
chr8 142740943 142742410 8qter 8q24.3 606119 SLURP1, MDM Secreted LY6/uPAR-related protein 1 SLURP1 57152 ENSG00000126233 Meleda disease, 248300 (3), Autosomal recessive Slurp1 (MGI:1930923)
chr8 142771196 142777847 Chr.8 8q24.3 606110 LYNX1 Lynx1, mouse, homolog of LYNX1 66004 ENSG00000180155 Lynx1 (MGI:1345180)
chr8 142784881 142786591 8q24-qter 8q24.3 606204 LY6D, E48 Lymphocyte antigen 6 complex, locus D LY6D 8581 ENSG00000167656 ?pseudogene ono 15q22 Ly6d (MGI:96881)
chr8 142834800 142846845 8q24.3 8q24.3 602370 GML Glycosylphosphatidylinositol-anchored molecule-like protein GML 2765 ENSG00000104499 Gml,Gml2 (MGI:1341831,MGI:3644767)
chr8 142872356 142879819 8q21 8q24.3 610613 CYP11B1, P450C11, FHI Cytochrome P450, subfamily XIB, polypeptide 1 (11-beta-hydroxylase; corticosteroid methyl-oxidase II (CMO II)) CYP11B1 1584 ENSG00000160882 chimeric CYP11B1/CYP11B2 gene = anti-Lepore-like Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3), Autosomal recessive; Aldosteronism, glucocorticoid-remediable, 103900 (3), Autosomal dominant Cyp11b2 (MGI:88584)
chr8 142910558 142917842 8q21 8q24.3 124080 CYP11B2 Cytochrome P450, subfamily XIB, polypeptide 2 CYP11B2 1585 ENSG00000179142 Aldosterone to renin ratio raised (3); Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3), Autosomal recessive; Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3), Autosomal recessive; {Low renin hypertension, susceptibility to} (3) Cyp11b1 (MGI:88583)
chr8 143018484 143022409 8q24.3 8q24.3 601384 LY6E, RIGE, SCA2 Lymphocyte antigen 6 complex, locus E (retinoic acid induced gene E) LY6E 4061 ENSG00000160932 Ly6e (MGI:106651)
chr8 143157913 143160635 8q24.3 8q24.3 603625 LY6H Lymphocyte antigen 6 complex, locus H LY6H 4062 ENSG00000176956 Ly6h (MGI:1346030)
chr8 143213192 143217169 8q24.3 8q24.3 612757 GPIHBP1, HYPL1D Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 GPIHBP1 338328 ENSG00000277494 Hyperlipoproteinemia, type 1D, 615947 (3), Autosomal recessive
chr8 143267436 143276930 8q24.3 8q24.3 165280 GLI4, HKR4 GLI-Kruppel family member GLI4 (oncogene HKR4) GLI4 2738 ENSG00000250571
chr8 143309323 143359976 8q24.3 8q24.3 606387 TOP1MT Topoisomerase I, mitochondrial TOP1MT 116447 ENSG00000184428 Top1mt (MGI:1920210)
chr8 143368826 143384219 8q24.3 8q24.3 601031 RHPN1, ODF5 Rhophilin 1 RHPN1 114822 ENSG00000158106 Rhpn1 (MGI:1098783)
chr8 143428059 143430431 8q24 8q24.3 610303 MAFA, RIPE3B1, INSDM v-MAF avian musculoaponeurotic fibrosarcoma oncogene homolog A MAFA 389692 ENSG00000182759 Insulinomatosis and diabetes mellitus, 147630 (3), Autosomal dominant Mafa (MGI:2673307)
chr8 143553386 143563061 8q24.3 8q24.3 617042 GSDMD, GSDMDC1, DFNA5L Gasdermin D GSDMD 79792 ENSG00000104518 Gsdmd (MGI:1916396)
chr8 143574584 143578350 8q24.3 8q24.3 611552 NAPRT1 Nicotinate phosphoribosyltransferase domain-containing 1 NAPRT 93100 ENSG00000147813 Naprt (MGI:2442664)
chr8 143579721 143597674 8q24.3 8q24.3 130592 EEF1D, EF1D Eukaryotic translation elongation factor 1, delta EEF1D 1936 ENSG00000104529 Eef1d (MGI:1913906)
chr8 143603223 143609613 8q24.3 8q24.3 616408 PYCRL, PYCR3 Pyrroline-5-carboxylate reductase-like PYCR3 65263 ENSG00000104524 Pycrl (MGI:1913444)
chr8 143612617 143618042 8q24.3 8q24.3 137020 TSTA3 Tissue-specific transplantation antigen-3 TSTA3 7264 ENSG00000104522 Tsta3 (MGI:98857)
chr8 143723932 143741625 8q24.3 8q24.3 611927 FAM83H, AI3A Family with sequence similarity 83, member H FAM83H 286077 ENSG00000180921 Amelogenesis imperfecta, type IIIA, 130900 (3), Autosomal dominant Fam83h (MGI:2145900)
chr8 143790919 143815378 8q24.3 8q24.3 607733 SCRIB, SCRB1, KIAA0147 Scribble, Drosophila, homolog of SCRIB 23513 ENSG00000180900 Scrib (MGI:2145950)
chr8 143816343 143830040 8q24.3 8q24.3 604819 PUF60, FIR, SIAHBP1, VRJS Poly-U-binding splicing factor, 60kD PUF60 22827 ENSG00000179950 Verheij syndrome, 615583 (3), Autosomal dominant Puf60 (MGI:1915209)
chr8 143829775 143840973 8q24.3 8q24.3 615563 NRBP2 Nuclear receptor-binding protein 2 NRBP2 340371 ENSG00000185189
chr8 143857318 143879042 8q24.3 8q24.3 607553 EPPK1 Epiplakin 1 EPPK1 83481 ENSG00000261150 Eppk1 (MGI:2386306)
chr8 143915146 143976799 8q24 8q24.3 601282 PLEC1, PLEC, PLTN, EBS1, LGMD2Q, EBSOG, EBSPA, EBSMD, EBSND Plectin 1 PLEC 5339 ENSG00000178209 mutation identified in 1 EBSND family Epidermolysis bullosa simplex with muscular dystrophy, 226670 (3), Autosomal recessive; ?Epidermolysis bullosa simplex with nail dystrophy, 616487 (3), Autosomal recessive; Epidermolysis bullosa simplex with pyloric atresia, 612138 (3), Autosomal recessive; Epidermolysis bullosa simplex, Ogna type, 131950 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, type 2Q, 613723 (3), Autosomal recessive Plec (MGI:1277961)
chr8 143945190 143945278 8q24.3 8q24.3 613716 MIR661, MIRN661 Micro RNA 661 MIR661 724031
chr8 143990057 143993414 8q24.3 8q24.3 138251 GRINA, NMDARA1 Glutamate receptor, ionotropic, N-methyl GRINA 2907 ENSG00000178719 Grina (MGI:1913418)
chr8 144010991 144047113 8q24 8q24.3 610874 SPATC1 Spermatogenesis- and centriole-associated 1 (speriolin) SPATC1 375686 ENSG00000186583 Spatc1 (MGI:1921531)
chr8 144051265 144064025 8q24.3 8q24.3 614243 OPLAH, OPLAHD 5-oxoprolinase (ATP-hydrolyzing) OPLAH 26873 ENSG00000178814 5-oxoprolinase deficiency, 260005 (3), Autosomal recessive, Autosomal dominant Oplah (MGI:1922725)
chr8 144064060 144080647 8q24.3 8q24.3 606491 EXOSC4, RRP41 Exosome component 4 EXOSC4 54512 ENSG00000178896 Exosc4 (MGI:1923576)
chr8 144082620 144086215 8q24 8q24.3 603048 GPAA1, GAA1, GPIBD15 Glycophosphatidylinositol anchor attachment protein 1 GPAA1 8733 ENSG00000197858 Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3) Gpaa1 (MGI:1202392)
chr8 144095034 144097526 8q24.3 8q24.3 123980 CYC1, MC3DN6 Cytochrome c1 CYC1 1537 ENSG00000179091 Mitochondrial complex III deficiency, nuclear type 6, 615453 (3), Autosomal recessive Cyc1 (MGI:1913695)
chr8 144098632 144104247 8q24.3 8q24.3 611885 SHARPIN, SIPL1 SHANK-associated RH domain interactor SHARPIN 81858 ENSG00000179526 Sharpin (MGI:1913331)
chr8 144104401 144107611 8q24.3 8q24.3 610210 MAF1 Maf1, S. cerevisiae, homolog of MAF1 84232 ENSG00000179632 Maf1 (MGI:1916127)
chr8 144262045 144291437 8q24 8q24.3 610596 BOP1, KIAA0124 Block of proliferation 1 BOP1 23246 ENSG00000261236 Bop1 (MGI:1334460)
chr8 144265059 144268482 8q24.3 8q24.3 609067 SCXA, SCX Scleraxis, mouse, homolog of, A SCX 642658 ENSG00000260428 Scx (MGI:102934)
chr8 144291568 144314725 8q24.3 8q24.3 140580 HSF1 Heat-shock transcription factor 1 HSF1 3297 ENSG00000185122 Hsf1 (MGI:96238)
chr8 144314582 144326918 8q24.3 8q24.3 604900 DGAT1, ARGP1, DIAR7 Diacylglycerol O-acyltransferase 1 DGAT1 8694 ENSG00000185000 mutation identified in 1 DIAR7 family ?Diarrhea 7, 615863 (3), Autosomal recessive Dgat1 (MGI:1333825)
chr8 144330564 144336280 Chr.8 8q24.3 605858 SCRT1 Scratch, mouse, homolog of SCRT1 83482 ENSG00000261678 Scrt1 (MGI:2176606)
chr8 144355427 144358522 8q24.3 8q24.3 609076 FBXL6, FBL6, FBL6A F-box and leucine-rich repeat protein 6 FBXL6 26233 ENSG00000182325 Fbxl6 (MGI:1354705)
chr8 144358546 144361285 8q24.3 8q24.3 607882 SLC52A2, GPR172A, GPCR41, PAR1, FLJ11856, BVVLS2 Solute carrier family 52, riboflavin transporter, member 2 SLC52A2 79581 ENSG00000185803 Brown-Vialetto-Van Laere syndrome 2, 614707 (3), Autosomal recessive Slc52a2 (MGI:1289288)
chr8 144412413 144417145 8q24.3 8q24.3 607059 SLC39A4, ZIP4 Solute carrier family 36 (zinc transporter), member 4 SLC39A4 55630 ENSG00000147804 Acrodermatitis enteropathica, 201100 (3), Autosomal recessive Slc39a4 (MGI:1919277)
chr8 144423600 144428562 8q24.3 8q24.3 611952 VPS28 Vacuolar protein sorting 28, yeast, homolog of VPS28 51160 ENSG00000160948 Vps28 (MGI:1914164)
chr8 144428779 144444487 8q24.3 8q24.3 604546 NFKBIL2, IKBR Nuclear factor of kappa light chain gene enhancer in B cells inhibitor-like 2 TONSL 4796 ENSG00000160949 Tonsl (MGI:1919999)
chr8 144449581 144465647 8q24.3 8q24.3 616635 CYHR1, KIAA0496 Cysteine- and histidine-rich protein 1 CYHR1 50626 ENSG00000187954 Cyhr1 (MGI:1859320)
chr8 144466245 144474115 8q24.3 8q24.3 615216 KIFC2 Kinesin family member C2 KIFC2 90990 ENSG00000167702 Kifc2 (MGI:109187)
chr8 144473731 144476334 8q24.3 8q24.3 603621 FAST1 Forkhead activin signal transducer 1, Xenopus, homolog of FOXH1 8928 ENSG00000160973 Foxh1 (MGI:1347465)
chr8 144502216 144507173 8q24.3 8q24.3 138200 GPT, GPT1, AAT1 Glutamic-pyruvate transaminase (alanine aminotransferase) GPT 2875 ENSG00000167701 Gpt (MGI:95802)
chr8 144511283 144517827 8q24.3 8q24.3 603780 RECQL4, RTS, RECQ4 DNA helicase, RecQ-like 4 RECQL4 9401 ENSG00000160957 Baller-Gerold syndrome, 218600 (3), Autosomal recessive; RAPADILINO syndrome, 266280 (3), Autosomal recessive; Rothmund-Thomson syndrome, 268400 (3), Autosomal recessive Recql4 (MGI:1931028)
chr8 144529178 144700519 8q24.3 8q24.3 615880 ARHGAP39, VILSE, KIAA1688 RHO GTPase-activating protein 39 ARHGAP39 80728 ENSG00000147799 Arhgap39 (MGI:107858)
chr8 144772223 144787370 8q24.12-q24.13 8q24.3 194526 ZNF34, KOX32 Zinc finger protein-34 (KOX32) ZNF34 80778 ENSG00000196378
chr8 144789764 144792445 8q 8q24.3 604177 RPL8 Ribosomal protein L8 RPL8 6132 ENSG00000161016 Rpl8 (MGI:1350927)
chr8 144827508 144848069 8q24 8q24.3 194531 ZNF7, KOX4 Zinc finger protein-7 (KOX4) ZNF7 7553 ENSG00000147789 Zfp7 (MGI:99208)
chr8 144837977 144853577 8q24.3 8q24.3 608216 COMMD5, HCARG COMM domain-containing protein 5 COMMD5 28991 ENSG00000170619 Commd5 (MGI:1913648)
chr8 144930357 144950887 8q24 8q24.3 601262 ZNF16, KOX9 Zinc finger protein-16 (KOX 9) ZNF16 7564 ENSG00000170631
chr8 0 145138636 Chr.8 608392 AIS3, VAMAS4 Autoimmune disease, susceptibility to, 3 AIS3 378427 {Autoimmune disease, susceptibility to, 3}, 608392 (2)
chr8 0 145138636 Chr.8 147860 IFNB3 Interferon, beta-3, fibroblast previously assigned to 2p23-qter
chr8 0 145138636 Chr.8 194490 ZNF1 Zinc finger protein-1
chr9 0 43000000 9p 158170 DEL9p, C9DELp Chromosome 9p deletion syndrome Chromosome 9p deletion syndrome, 158170 (4), Autosomal dominant
chr9 0 2200000 9p24.3 154230 DEL9p24.3, C9DELp24.3, SRXY4 Chromosome 9p24.3 deletion syndrome 46XY sex reversal 4, 154230 (4)
chr9 0 43000000 9p 606613 HDLCQ1 High density lipoprotein cholesterol level QTL 1 HDLCQ1 192144 [High density lipoprotein cholesterol level QTL 1], 606613 (2)
chr9 0 9000000 9p24 614113 MRD2 Mental retardation, autosomal dominant 2 2 patients reported with genomic deletion or rearrangement including disruption of DOCK8 Mental retardation, autosomal dominant 2, 614113 (4), Autosomal dominant
chr9 0 19900000 9p24-p22 610438 RLS3 Restless legs syndrome, susceptibility to, 3 100188812 associated with rs4626664 and rs1975197 {Restless legs syndrome 3}, 610438 (2)
chr9 14474 30486 9p24.3 9p24.3 613632 WASHC1, WASH1 WASH complex, subunit 1 WASHC1 100287171 ENSG00000181404 pseudogenes on 1p, 15q, 16p, Xq/Yq Washc1 (MGI:1916017)
chr9 116230 118416 9q21.11 9p24.3 601092 FOXD4, FKHL9 Forkhead box D4 FOXD4 2298 ENSG00000170122 Foxd4 (MGI:1347467)
chr9 121037 179082 9p24.3 9p24.3 611078 CBWD1 Cobalamin synthetase W domain-containing protein 1 CBWD1 55871 ENSG00000172785 Cbwd1 (MGI:2385089)
chr9 211295 465259 9p24 9p24.3 611432 DOCK8 Dedicator of cytokinesis 8 DOCK8 81704 ENSG00000107099 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3), Autosomal recessive Dock8 (MGI:1921396)
chr9 470290 746105 9p24.3 9p24.3 607704 KANK1, KANK, ANKRD15, KIAA0172, CPSQ2 KN motif- and ankyrin repeat domain-containing protein 1 KANK1 23189 ENSG00000107104 Cerebral palsy, spastic quadriplegic, 2, 612900 (3) Kank1 (MGI:2147707)
chr9 841646 969089 9p24.3 9p24.3 602424 DMRT1, DMT1 Double sex and mab-3-related transcription factor-1 DMRT1 1761 ENSG00000137090 Dmrt1 (MGI:1354733)
chr9 976967 991731 9p24.3 9p24.3 614754 DMRT3, DMRTA3 Doublesex-and mab3-related transcription factor 3 DMRT3 58524 ENSG00000064218 Dmrt3 (MGI:2449470)
chr9 1003236 1057553 9p24.3 9p24.3 604935 DMRT2 Double sex and mab-3-related transcription factor-2 DMRT2 10655 ENSG00000173253 Dmrt2 (MGI:1330307)
chr9 2015218 2193623 9p24-p23 9p24.3 600014 SMARCA2, SNF2L2, NCBRS SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 SMARCA2 6595 ENSG00000080503 Nicolaides-Baraitser syndrome, 601358 (3), Autosomal dominant Smarca2 (MGI:99603)
chr9 2621773 2656102 9p24 9p24.2 192977 VLDLR, CAMRQ1 Very low density lipoprotein receptor VLDLR 7436 ENSG00000147852 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3), Autosomal recessive Vldlr (MGI:98935)
chr9 2717525 2730036 9p24.2 9p24.2 607604 KCNV2, KV11.1, RCD3B Potassium channel, voltage-gated, subfamily V, member 2 KCNV2 169522 ENSG00000168263 Retinal cone dystrophy 3B, 610356 (3), Autosomal recessive Kcnv2 (MGI:2670981)
chr9 2804151 2844129 9p24.2 9p24.2 609960 KIAA0020, HLA-HA8 Minor histocompatibility antigen HA-8 PUM3 9933 ENSG00000080608 Pum3 (MGI:106253)
chr9 3218296 3526528 9p24.2 9p24.2 601337 RFX3 Regulatory factor X, 3 RFX3 5991 ENSG00000080298 Rfx3 (MGI:106582)
chr9 3824126 4310693 9p24.3-p23 9p24.2 610192 GLIS3, ZNF515, NDH GLIS family zinc finger protein 3 GLIS3 169792 ENSG00000107249 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3), Autosomal recessive Glis3 (MGI:2444289)
chr9 4490426 4587468 9p24 9p24.2 133550 SLC1A1, EAAC1, SCZD18, DCBXA Solute carrier family 1, member 1 (high-affinity glutamate transporter; excitatory amino acid carrier 1) SLC1A1 6505 ENSG00000106688 mutation identified in 1 SCZD18 family Dicarboxylic aminoaciduria, 222730 (3), Autosomal recessive; {?Schizophrenia susceptibility 18}, 615232 (3) Slc1a1 (MGI:105083)
chr9 4600000 19900000 9p24.1-p22.1 613271 FECD7, FCD4 Corneal dystrophy, Fuchs endothelial, 7 100380875 max lod at D9S256 Corneal dystrophy, Fuchs endothelial, 7, 613271 (2)
chr9 4662293 4665273 9p24.1 9p24.1 611666 PLPP6, PPAPDC2 PPAP2 domain-containing protein 2 PLPP6 403313 ENSG00000205808 Phospholipid phosphatase 6, 611666 (3) Plpp6 (MGI:1921661)
chr9 4679552 4708398 9p24.1 9p24.1 610346 CDC37L1, HARC, FLJ20639 CDC37-like 1 CDC37L1 55664 ENSG00000106993 Cdc37l1 (MGI:1914322)
chr9 4709555 4742042 9p24.1 9p24.1 609290 AK3, AK3L1 Adenylate kinase 3 AK3 50808 ENSG00000147853 Ak3 (MGI:1860835)
chr9 4792833 4861076 9p24.1 9p24.1 611405 RCL1, RPCL1, RNAC RNA terminal phosphate cyclase-like 1 RCL1 10171 ENSG00000120158 Rcl1 (MGI:1913275)
chr9 4850296 4850374 9p24.1 9p24.1 612512 MIR101-2, MIRN101-2 Micro RNA 101-2 MIR101-2 406894 another locus, MIRN101-1, on 1p31
chr9 4985085 5128182 9p24 9p24.1 147796 JAK2, THCYT3 Janus kinase 2 (a protein-tyrosine kinase) JAK2 3717 ENSG00000096968 {Budd-Chiari syndrome, somatic}, 600880 (3); Erythrocytosis, somatic, 133100 (3); Leukemia, acute myeloid, somatic, 601626 (3); Myelofibrosis, somatic, 254450 (3); Polycythemia vera, somatic, 263300 (3); Thrombocythemia 3, 614521 (3), Autosomal dominant, Somatic mutation Jak2 (MGI:96629)
chr9 4992408 5185706 9p24 9p24.1 606414 INSL6 Insulin-like 6 INSL6 11172 ENSG00000120210 Insl6 (MGI:1351595)
chr9 5231418 5233966 9p24 9p24.1 600910 INSL4 Insulin-like 4, placenta INSL4 3641 ENSG00000120211
chr9 5299863 5340914 9pter-q12 9p24.1 179730 RLN1 Relaxin, H1 RLN1 6013 ENSG00000107018 Rln1 (MGI:97931)
chr9 5299863 5339437 9pter-q12 9p24.1 179740 RLN2 Relaxin, H2 RLN2 6019 ENSG00000107014
chr9 5450502 5470566 9p24 9p24.1 605402 CD274, PDCD1LG1, B7H1 CD274 molecule CD274 29126 ENSG00000120217 Cd274 (MGI:1926446)
chr9 5510437 5571281 9p24.2 9p24.1 605723 PDCD1L2, PDL2 Programmed cell death 1 ligand 2 PDCD1LG2 80380 ENSG00000197646 Pdcd1lg2 (MGI:1930125)
chr9 5629029 5778632 9p24.1 9p24.1 610354 CIP150, KIAA1432 Connexin 43-interacting protein, 150kD RIC1 57589 ENSG00000107036 Ric1 (MGI:1924893)
chr9 5764060 5867090 9p24 9p24.1 611156 ERMP1, KIAA1815, FXNA Endoplasmic reticulum metallopeptidase 1 ERMP1 79956 ENSG00000099219 Ermp1 (MGI:106250)
chr9 5890908 5909821 9p24.1 9p24.1 605513 MLANA, MART1 Melan A MLANA 2315 ENSG00000120215 Mlana (MGI:108454)
chr9 6214590 6257982 9p24.1 9p24.1 608678 IL33, C9orf26, NFEHEV Interleukin 33 IL33 90865 ENSG00000137033 Il33 (MGI:1924375)
chr9 6328348 6331899 9p24.1 9p24.1 617567 TPD52L3 Tumor protein D52-like 3 TPD52L3 89882 ENSG00000170777 Trpd52l3 (MGI:1913995)
chr9 6413147 6507055 9p24.1-p23 9p24.1 615211 UHRF2, NIRF Ubiquitin-like protein containing PDH and RING finger domains 2, E3 ubiquitin protein ligase UHRF2 115426 ENSG00000147854 Uhrf2 (MGI:1923718)
chr9 6532463 6645691 9p22 9p24.1 238300 GLDC, HYGN1, GCSP, GCE, NKH Glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P) GLDC 2731 ENSG00000178445 Glycine encephalopathy, 605899 (3), Autosomal recessive Gldc (MGI:1341155)
chr9 6720862 7175647 9p24.1 9p24.1 605469 KDM4C, JMJD2C, GASC1, KIAA0780 Lysine-specific demethylase 4C KDM4C 23081 ENSG00000107077 Kdm4c (MGI:1924054)
chr9 7796489 7799805 9p24.1 9p24.1 617261 TMEM261, DMAC1, C9orf123 Transmembrane protein 261 DMAC1 90871 ENSG00000137038 Dmac1 (MGI:1914178)
chr9 8314245 10612840 9p24.3-p23 9p24-p23 601598 PTPRD, PTPD, HPTP Protein tyrosine phosphatase, receptor type, delta polypeptide PTPRD 5789 ENSG00000153707
chr9 9000000 28000000 9p23-p21.2 613685 DFNB83 Deafness, autosomal recessive 83 DFNB83 100359400 between rs4742645 and rs1471364 Deafness, autosomal recessive 83, 613685 (2), Autosomal recessive
chr9 9000000 43000000 9p23-p11 601992 FRDA2 Friedreich ataxia 2 FRDA2 2420 Friedreich ataxia 2, 601992 (2), Autosomal recessive
chr9 9000000 36300000 9p23-p13.3 614208 MRT16 Mental retardation, autosomal recessive 16 100689014 between rs10738277 and rs12376565 Mental retardation, autosomal recessive 16, 614208 (2), Autosomal recessive
chr9 12693374 12710265 9p23 9p23 115501 TYRP1, CAS2, GP75, SHEP11 Tyrosinase-related protein 1 TYRP1 7306 ENSG00000107165 Albinism, oculocutaneous, type III, 203290 (3), Autosomal recessive; [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3) Tyrp1 (MGI:98881)
chr9 12774993 12823059 9p23 9p23 616130 LURAP1L, LRAP35B Leucine-rich adaptor protein 1-like LURAP1L 286343 ENSG00000153714 Lurap1l (MGI:106510)
chr9 13105295 13279712 9p24-p22 9p23 603785 MPDZ, MUPP1, HYC2 Multiple PDZ domain protein MPDZ 8777 ENSG00000107186 Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3), Autosomal recessive Mpdz (MGI:1343489)
chr9 14081842 14398982 9p24.1 9p23-p22 600728 NFIB Nuclear factor I/B NFIB 4781 ENSG00000147862 Nfib (MGI:103188)
chr9 14200000 33200000 9p22-p21 608652 DFNA47, DFNB83 Deafness, autosomal dominant 47 DFNA47 246289 between D9S268 and D9S942; possibly allelic to DFNB83 Deafness, autosomal dominant 47, 608652 (2), Autosomal dominant
chr9 14200000 33200000 9p22-p21 247640 LALL Lymphomatous acute lymphoblastic leukemia 8009 Leukemia, acute lymphoblastic, 247640 (2), Autosomal recessive
chr9 14588796 14693545 9p22.3 9p22.3 614605 ZDHHC21, DHHC21 Zinc finger DHHC domain-containing protein 21 ZDHHC21 340481 ENSG00000175893 Zdhhc21 (MGI:1915518)
chr9 14715081 14724307 9p22 9p22.3 603777 CER1 Cerebrus 1, Xenopus, homolog of CER1 9350 ENSG00000147869 Cer1 (MGI:1201414)
chr9 14734665 14911652 9p22.3 9p22.3 608944 FREM1, C9orf154, BNAR, MOTA, TRIGNO2 FRAS1-related extracellular matrix protein 1 FREM1 158326 ENSG00000164946 Bifid nose with or without anorectal and renal anomalies, 608980 (3); Manitoba oculotrichoanal syndrome, 248450 (3), Autosomal recessive; Trigonocephaly 2, 614485 (3), Autosomal dominant Frem1 (MGI:2670972)
chr9 15167203 15307359 9p22.3 9p22.3 613574 TTC39B Tetratricopeptide repeat domain 39B TTC39B 158219 ENSG00000155158 Ttc39b (MGI:1917113)
chr9 15422783 15466750 9p22.3 9p22.3 602348 SNAPC3, SNAP50 Small nuclear RNA-activating protein complex, polypeptide 3 SNAPC3 6619 ENSG00000164975 Snapc3 (MGI:1916338)
chr9 15464065 15511018 9p22.2 9p22.3 603620 PSIP1, LEDGF PC4- and SFRS1-interacting protein 1 PSIP1 11168 ENSG00000164985 Psip1 (MGI:2142116)
chr9 16409502 16870787 9p22.1 9p22.3-p22.2 608669 BNC2 Basonuclin 2 BNC2 54796 ENSG00000173068 Bnc2 (MGI:2443805)
chr9 17134990 17510019 9p22.2 9p22.2 611870 CNTLN, C9orf101, C9orf39 Centlein CNTLN 54875 ENSG00000044459 Cntln (MGI:2443104)
chr9 17578953 17797128 9p22 9p22.2 604465 SH3GL2, SH3P4 SH3 domain, GRB2-like, 2 SH3GL2 6456 ENSG00000107295 Sh3gl2 (MGI:700009)
chr9 17906514 18910949 9p22.1-p21.2 9p22.2-p22.1 609198 ADAMTSL1 ADAMTS-like protein 1 ADAMTSL1 92949 ENSG00000178031 Adamtsl1 (MGI:1924989)
chr9 18500000 19900000 9p22.1 609790 AD11 Alzheimer disease 11 100188795 between D9S157 and D9S259 Alzheimer disease-11, 609790 (2)
chr9 18927659 19049505 9p22.1 9p22.1 616292 SAXO1, FAM154A Stabilizer of axonemal microtubules 1 SAXO1 158297 ENSG00000155875 Saxo1 (MGI:1923061)
chr9 19049373 19051024 9p22.1 9p22.1 612194 RRAGA, RAGA, FIP1 Ras-related GTP-binding protein A RRAGA 10670 ENSG00000155876 Rraga (MGI:1915691)
chr9 19053136 19102941 9p22.1 9p22.1 613433 HAUS6, DGT6, FAM29A HAUS, augmin-like complex, subunit 6 HAUS6 54801 ENSG00000147874 Haus6 (MGI:1923389)
chr9 19063655 19063785 9p22.1 9p22.1 615646 SCARNA8 Small Cajal body-specific RNA 8 SCARNA8 677776
chr9 19108390 19127605 9p22.1 9p22.1 103195 PLIN2 Perilipin 2 PLIN2 123 ENSG00000147872 Plin2 (MGI:87920)
chr9 19376255 19380236 9p21 9p22.1 180460 RPS6 Ribosomal protein S6 RPS6 6194 ENSG00000137154 Rps6 (MGI:98159)
chr9 19408926 19455172 9p22.1 9p22.1 613492 ACER2 Alkaline ceramidase 2 ACER2 340485 ENSG00000177076 Acer2 (MGI:1920932)
chr9 19507451 20307887 9p22 9p22.1-p21.3 609838 SLC24A2, NCKX2 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 SLC24A2 25769 ENSG00000155886 Slc24a2 (MGI:1923626)
chr9 19900000 33200000 9p21 611891 AAA3 Aneurysm, familial abdominal 3 100188857 associated with rs10757278 {Aneurysm, familial abdominal 3}, 611891 (2)
chr9 19900000 33200000 9p21 611892 ANIB6 Aneurysm, intracranial berry, 6 100188858 associated with rs10757278 {Aneurysm, intracranial berry, 6}, 611892 (2)
chr9 19900000 33200000 9p21 613062 BCC5 Basal cell carcinoma, susceptibility to, 5 100307122 associated with rs2151280 {Basal cell carcinoma, susceptibility to, 5}, 613062 (2)
chr9 19900000 33200000 9p21 611139 CHDS8 Coronary heart disease, susceptibility to, 8 100188836 strongest linkage with dbSNP rs1333049 {Coronary heart disease, susceptibility to, 8}, 611139 (2)
chr9 19900000 25600000 9p21.3 613030 GLM5 Glioma susceptibility 5 100415894 associated with rs4977756 {Glioma susceptibility 5}, 613030 (2)
chr9 19900000 33200000 9p21 612099 MFT2, TEM Trichoepithelioma, multiple familial, 2 100188881 max lod at D9S171 Trichoepithelioma, multiple familial, 2, 612099 (2)
chr9 20341664 20622542 9p22 9p21.3 159558 MLLT3, AF9 Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 3 MLLT3 4300 ENSG00000171843 fuses with ALL1 Mllt3 (MGI:1917372)
chr9 20658308 20995954 9p21.3 9p21.3 614606 FOCAD, KIAA1797 Focadhesin FOCAD 54914 ENSG00000188352 Focad (MGI:2676921)
chr9 21003620 21031711 9p21.3 9p21.3 615941 PTPLAD2, HACD4 Protein tyrosine phosphatase-like A domain-containing protein 2 HACD4 401494 ENSG00000188921 Hacd4 (MGI:1914025)
chr9 21077104 21077962 9p21 9p21.3 147640 IFNB1 Interferon, beta-1, fibroblast IFNB1 3456 ENSG00000171855 distal to IFL; ?9p23-p22; IFF duplicate in some Ifnb1 (MGI:107657)
chr9 21140631 21141900 9p21 9p21.3 147553 IFNW1 Interferon, omega-1 IFNW1 3467 ENSG00000177047 pseudogene IFNWP2; interspersed with IFNA
chr9 21165636 21166659 9p22 9p21.3 147584 IFNA21 Interferon, alpha-21 IFNA21 3452 ENSG00000137080
chr9 21186617 21187598 9p22 9p21.3 147564 IFNA4 Interferon, alpha-4 IFNA4 3441 ENSG00000236637 Ifnab,Ifna13,Ifna14,Ifna5,Ifna11,Ifna6,Ifna12,Ifna7,Ifna1,Ifna15,Ifna2,Ifna16,Ifna9 (MGI:107659,MGI:3649418,MGI:107666,MGI:107668,MGI:107661,MGI:107662,MGI:2676324,MGI:107663,MGI:3641425,MGI:109210,MGI:1097683,MGI:3649260,MGI:2667155)
chr9 21201468 21202204 9p22 9p21.3 147567 IFNA7 Interferon, alpha-7 IFNA7 3444 ENSG00000214042
chr9 21206180 21207142 9p22 9p21.3 147577 IFNA10 Interferon, alpha-10 IFNA10 3446 ENSG00000186803
chr9 21216372 21217310 9p22 9p21.3 147580 IFNA16 Interferon, alpha-16 IFNA16 3449 ENSG00000147885
chr9 21227242 21228221 9p22 9p21.3 147583 IFNA17 Interferon, alpha-17 IFNA17 3451 ENSG00000234829
chr9 21239201 21239978 9p22 9p21.3 147579 IFNA14 Interferon, alpha-14 IFNA14 3448 ENSG00000228083
chr9 21304613 21305312 9p22 9p21.3 147565 IFNA5 Interferon, alpha-5 IFNA5 3442 ENSG00000147873
chr9 21329670 21335431 9p21.3 9p21.3 611201 KLHL9, KIAA1354 Kelch-like 9 KLHL9 55958 ENSG00000198642 Klhl9 (MGI:2180122)
chr9 21350317 21350886 9p22 9p21.3 147566 IFNA6 Interferon, alpha-6 IFNA6 3443 ENSG00000120235
chr9 21367371 21368075 9p22 9p21.3 147578 IFNA13 Interferon, alpha-13 IFNA13 3447 ENSG00000233816
chr9 21384254 21385396 9p22 9p21.3 147562 IFNA2 Interferon, alpha-2 IFNA2 3440 ENSG00000188379
chr9 21409146 21410184 9p22 9p21.3 147568 IFNA8 Interferon, alpha-8 IFNA8 3445 ENSG00000120242
chr9 21440453 21441315 9p22 9p21.3 147660 IFNA1, IFNA@ Interferon, alpha-1 IFNA1 3439 ENSG00000197919 very close to IFF by Fd, LD; 15-30 genes Interferon, alpha, deficiency (1)
chr9 21454267 21559797 9p21.3 9p21.3 616356 MIR31HG, LOC554202 Micro RNA 31 host gene, noncoding MIR31HG 554202
chr9 21480838 21482312 9p21 9p21.3 615223 IFNE, INFE1, IFNT1 Interferon, epsilon IFNE 338376 ENSG00000184995 Ifne (MGI:2667156)
chr9 21512114 21512184 9p21.3 9p21.3 612155 MIR31, MIRN31 Micro RNA 31 MIR31 407035
chr9 21802635 21865970 9p21 9p21.3 156540 MTAP, DMSMFH Methylthioadenosine phosphorylase MTAP 4507 ENSG00000099810 Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3), Autosomal dominant Mtap (MGI:1914152)
chr9 21967751 21995042 9p21 9p21.3 600160 CDKN2A, MTS1, P16, MLM, CMM2 Cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4) CDKN2A 1029 ENSG00000147889 Melanoma and neural system tumor syndrome, 155755 (3), Autosomal dominant; {Melanoma, cutaneous malignant, 2}, 155601 (3), Autosomal dominant; Orolaryngeal cancer, multiple (3); Pancreatic cancer/melanoma syndrome, 606719 (3), Autosomal dominant Cdkn2a (MGI:104738)
chr9 21994790 22121096 9p21 9p21.3 613149 CDKN2BAS, ANRIL CDKN2B antisense RNA CDKN2B-AS1 100048912
chr9 22002902 22009312 9p21 9p21.3 600431 CDKN2B, MTS2, P15, INK4B Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) CDKN2B 1030 ENSG00000147883 tandem with MTS1 Cdkn2b (MGI:104737)
chr9 22446840 22452472 9p21.3 9p21.3 614803 DMRTA1, DMRT4 Doublesex- and MAB3-related transcription factor A1 DMRTA1 63951 ENSG00000176399 Dmrta1 (MGI:2653627)
chr9 23690098 23850707 9p21 9p21.3 601673 ELAVL2, HELN1, HUB Embryonic lethal, abnormal vision, Drosophila, homolog of, like-2 (Hu antigen B) ELAVL2 1993 ENSG00000107105 Elavl2 (MGI:1100887)
chr9 25600000 28000000 9p21.2 617651 EMICER1 EQTN, MOB3B, IFNK, and C9orf72 enhancer RNA I, noncoding
chr9 25676388 25678857 9p21 9p21.2 610529 TUSC1, TSG9 Tumor suppressor candidate 1 TUSC1 286319 ENSG00000198680 Tusc1 (MGI:2684283)
chr9 26903369 26947472 9p21.2 9p21.2 603873 PLAA, PLAP, NDMSBA Phospholipase A2-activating protein PLAA 9373 ENSG00000137055 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive Plaa (MGI:104810)
chr9 26946989 27066133 9p21.2 9p21.2 608040 IFT74, CCDC2, CMG1, BBS20 Intraflagellar transport 74, Chlamydomonas, homolog of IFT74 80173 ENSG00000096872 mutation identified in 1 BBS20 patient ?Bardet-Biedl syndrome 20, 617119 (3), Autosomal recessive Ift74 (MGI:1914944)
chr9 27109140 27230177 9p21 9p21.2 600221 TEK, TIE2, VMCM, GLC3E TEK tyrosine kinase, endothelial TEK 7010 ENSG00000120156 Glaucoma 3, primary congenital, E, 617272 (3), Autosomal dominant; Venous malformations, multiple cutaneous and mucosal, 600195 (3), Autosomal dominant Tek (MGI:98664)
chr9 27284653 27297138 9p21.2 9p21.2 617653 EQTN, AFAF, SPACA8, C9orf11 Equatorin EQTN 54586 ENSG00000120160 Eqtn (MGI:1915003)
chr9 27325208 27529851 9p21.2 9p21.2 617652 MOB3B, MOB1D, MOBKL2B, C9orf35 MOB kinase activator 3B MOB3B 79817 ENSG00000120162 Mob3b (MGI:2664539)
chr9 27524313 27526497 9p21.2 9p21.2 615326 IFNK Interferon, kappa IFNK 56832 ENSG00000147896 Ifnk (MGI:2683287)
chr9 27546545 27573865 9p21 9p21.2 614260 C9orf72, FTDALS1, FTDALS, ALSFTD Chromosome 9 open reading frame 72 C9orf72 203228 ENSG00000147894 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3), Autosomal dominant 3110043O21Rik (MGI:1920455)
chr9 27937616 29215242 9p21.2-p21.1 9p21.2-p21.1 609793 LRRN6C, LINGO2, LERN3 Leucine-rich repeat protein, neuronal, 6C LINGO2 158038 ENSG00000174482 Lingo2 (MGI:2442298)
chr9 28888878 28888954 9p21.1 9p21.1 616137 MIR873 Micro RNA 873 MIR873 100126316
chr9 32384602 32450835 9p21.2 9p21.1 100880 ACO1, IREB1 Aconitase, soluble (iron-responsive element-binding protein-1) ACO1 48 ENSG00000122729 Aco1 (MGI:87879)
chr9 32455301 32526323 9p21.1 9p21.1 609631 DDX58, RIGI, SGMRT2 DEAD box polypeptide 58 DDX58 23586 ENSG00000107201 Singleton-Merten syndrome 2, 616298 (3), Autosomal dominant Ddx58 (MGI:2442858)
chr9 32540543 32552627 9p21 9p21.1 609507 TOPORS, P53BP3, LUN, RP31 Topoisomerase I-binding arginine/serine-rich protein TOPORS 10210 ENSG00000197579 Retinitis pigmentosa 31, 609923 (3) Topors (MGI:2146189)
chr9 32883871 33025130 9p13.3 9p21.1 606350 APTX, AOA, AOA1 Aprataxin APTX 54840 ENSG00000137074 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3), Autosomal recessive Aptx (MGI:1913658)
chr9 33041851 33076715 9p21.1 9p21.1 617811 SMU1 DNA replication regulator and spliceosomal factor SMU1 SMU1 55234 ENSG00000122692 Smu1 (MGI:1915546)
chr9 33110640 33167357 9p13 9p21.1 137060 B4GALT1, GGTB2, GT1, GTB, CDG2D Glycoprotein-4-beta-galactosyltransferase-2 (EC 2.4.1.22) B4GALT1 2683 ENSG00000086062 Congenital disorder of glycosylation, type IId, 607091 (3), Autosomal recessive B4galt1 (MGI:95705)
chr9 33200000 39000000 9p13 609403 PEE3 Preeclampsia/eclampsia 3 780909 Preeclampsia/eclampsia 3, 609403 (2)
chr9 33240163 33248566 9p13.3 9p13.3 613929 SPINK4, PEC60 Serine protease inhibitor, Kazal-type, 4 SPINK4 27290 ENSG00000122711 Spink4 (MGI:1341848)
chr9 33252470 33264760 9p12 9p13.3 601497 BAG1 BCL2-associated athanogene BAG1 573 ENSG00000107262 Bag1 (MGI:108047)
chr9 33264878 33282068 9p13.3 9p13.3 610900 CHMP5 CHMP family, member 5 CHMP5 51510 ENSG00000086065 Chmp5 (MGI:1924209)
chr9 33290416 33371162 9p13.3 9p13.3 603255 NFX1 Nuclear transcription factor, X box-binding, protein 1 NFX1 4799 ENSG00000086102 Nfx1 (MGI:1921414)
chr9 33383134 33402681 9p13 9p13.3 602974 AQP7, GLYCQTL Aquaporin-7 AQP7 364 ENSG00000165269 [Glycerol quantitative trait locus], 614411 (3), Autosomal recessive Aqp7 (MGI:1314647)
chr9 33441153 33447632 9p13 9p13.3 600170 AQP3 Aquaporin-3 AQP3 360 ENSG00000165272 incorrectly mapped to chr.7 [Blood group GIL], 607457 (3) Aqp3 (MGI:1333777)
chr9 33460810 33473942 9p13 9p13.3 611532 NOL6, NRAP Nucleolar protein 6 NOL6 65083 ENSG00000165271 Nol6 (MGI:2140151)
chr9 33673503 33677419 9p13.3 9p13.3 613531 PTENP1 Phosphatase and tensin homolog pseudogene 1 (functional) PTENP1 11191
chr9 33750465 33799230 9p13 9p13.3 613578 PRSS3, TRY3, T9 Protease, serine, 3 PRSS3 5646 ENSG00000010438 Try5,Try4 (MGI:102756,MGI:102757)
chr9 33817163 33920402 9p22.1 9p13.3 612506 UBE2R2, UBC3B Ubiquitin-conjugating enzyme E2R 2 UBE2R2 54926 ENSG00000107341 Ube2r2 (MGI:1914865)
chr9 34179004 34252522 9p22-p21 9p13.3 609787 UBAP1, UBAP Ubiquitin-associated protein 1 UBAP1 51271 ENSG00000165006 Ubap1 (MGI:2149543)
chr9 34252032 34333519 9p13.3 9p13.3 613747 KIF24 Kinesin family member 24 KIF24 347240 ENSG00000186638 Kif24 (MGI:1918345)
chr9 34329505 34343712 9p13 9p13.3 602852 NUDT2, APAH1 Nudix-type motif 1 (AP4A hydrolase-1) NUDT2 318 ENSG00000164978 Nudt2 (MGI:1913651)
chr9 34458751 34520988 9p13.3 9p13.3 604366 DNAI1, CILD1, ICS, PCD Dynein, axonemal, intermediate chain 1 DNAI1 27019 ENSG00000122735 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3), Autosomal recessive Dnaic1 (MGI:1916172)
chr9 34551431 34590385 9p13 9p13.3 118946 CNTFR Ciliary neurotrophic factor receptor CNTFR 1271 ENSG00000122756 Cntfr (MGI:99605)
chr9 34613544 34620522 9p13 9p13.3 607387 DCTN3, DCTN22 Dynactin 3 DCTN3 11258 ENSG00000137100 Dctn3 (MGI:1859251)
chr9 34634721 34637825 9p13 9p13.3 601978 SIGMAR1, SRBP, ALS16, DSMA2 Sigma nonopioid intracellular receptor 1 SIGMAR1 10280 ENSG00000147955 mutation identified in 1 ALS16 family and 1 DSMA2 family ?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3), Autosomal recessive; ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3), Autosomal recessive Sigmar1 (MGI:1195268)
chr9 34646588 34650597 9p13 9p13.3 606999 GALT Galactose-1-phosphate uridyltransferase GALT 2592 ENSG00000213930 Galactosemia, 230400 (3), Autosomal recessive Galt (MGI:95638)
chr9 34652184 34661901 9p13 9p13.3 600939 IL11RA, CRSDA Interleukin-11 receptor, alpha IL11RA 3590 ENSG00000137070 Craniosynostosis and dental anomalies, 614188 (3), Autosomal recessive Il11ra1,Gm13305,Gm2002,Il11ra2 (MGI:3780172,MGI:107426,MGI:3801997,MGI:109123)
chr9 34661882 34662691 9p13 9p13.3 604833 CCL27, SCYA27, ILC, CTACK Chemokine, C-C motif, ligand 27 CCL27 10850 ENSG00000213927 Gm2506,Gm13306,Ccl27b (MGI:1891389,MGI:3713752,MGI:3780673)
chr9 34689569 34691276 9p13 9p13.3 602227 CCL19, SCYA19, ELC, MIP3B Chemokine, C-C motif, ligand 19 CCL19 6363 ENSG00000172724 Ccl19-ps1,Gm12407,Gm13309,Gm21104,Gm2457,Gm2564,Ccl19,Gm2023 (MGI:5434459,MGI:3708691,MGI:1891387,MGI:3780624,MGI:1346316,MGI:3780192,MGI:3693096,MGI:3702000)
chr9 34709004 34710166 9p13 9p13.3 602737 CCL21, SCYA21, SLC Chemokine, C-C motif, ligand 21 CCL21 6366 ENSG00000137077 Ccl21c,Gm1987,Gm13304,Gm10591,Ccl21b,Ccl21a,Gm21541 (MGI:1349183,MGI:3711256,MGI:1349182,MGI:5434896,MGI:3710514,MGI:1891386,MGI:3780156)
chr9 34989640 34998432 9p13.3 9p13.3 611328 DNAJB5, KIAA1045, HSC40 DNAJ/HSP40 homolog, subfamily B, member 5 DNAJB5 25822 ENSG00000137094 Dnajb5 (MGI:1930018)
chr9 35056063 35072741 9p13-p12 9p13.3 601023 VCP, IBMPFD1, ALS14, CMT2Y Valosin-containing protein VCP 7415 ENSG00000165280 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3); Charcot-Marie-Tooth disease, type 2Y, 616687 (3), Autosomal dominant; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3), Autosomal dominant Vcp (MGI:99919)
chr9 35073837 35080015 9p13 9p13.3 602956 XRCC9, FANCG X-ray repair, complementing defective, in Chinese hamster, 9 FANCG 2189 ENSG00000221829 Fanconi anemia, complementation group G, 614082 (3) Fancg (MGI:1926471)
chr9 35085495 35096600 9p13 9p13.3 614730 PIGO, HPMRS2 Phosphatidylinositol glycan, class O PIGO 84720 ENSG00000165282 Hyperphosphatasia with mental retardation syndrome 2, 614749 (3), Autosomal recessive Pigo (MGI:1861452)
chr9 35099775 35103194 9p13.1 9p13.3 608292 STOML2 Stomatin-like protein 2 STOML2 30968 ENSG00000165283 Stoml2 (MGI:1913842)
chr9 35161968 35405337 Chr.9 9p13.3 605836 UNC13, MUNC13 UNC13, C. elegans, homolog of UNC13B 10497 ENSG00000198722 Unc13b (MGI:1342278)
chr9 35489832 35561897 9p13.1 9p13.3 611053 RUSC2, KIAA0375, IPORIN, MRT61 RUN and SH3 domain-containing 2 RUSC2 9853 ENSG00000198853 Mental retardation, autosomal recessive 61, 617773 (3), Autosomal recessive Rusc2 (MGI:2140371)
chr9 35605283 35610040 9p13 9p13.3 601782 TESK1 Testis-specific protein kinase-1 TESK1 7016 ENSG00000107140 Tesk1 (MGI:1201675)
chr9 35609978 35618426 9p 9p13.3 107272 CD72, LYB2 CD72 antigen CD72 971 ENSG00000137101 Cd72 (MGI:88345)
chr9 35649297 35650949 9p13-p12 9p13.3 604964 SIT SHP2-interacting transmembrane adaptor protein SIT1 27240 ENSG00000137078 Sit1 (MGI:1889342)
chr9 35657750 35658017 9p21-p12 9p13.3 157660 RMRP, RMRPR, CHH Mitochondrial RNA-processing endoribonuclease RMRP 6023 Anauxetic dysplasia 1, 607095 (3), Autosomal recessive; Cartilage-hair hypoplasia, 250250 (3), Autosomal recessive; Metaphyseal dysplasia without hypotrichosis, 250460 (3), Autosomal recessive
chr9 35673808 35681158 9p13.3 9p13.3 603179 CA9, MN Carbonic anhydrase IX CA9 768 ENSG00000107159 previously assigned to 17q21.2 Car9 (MGI:2447188)
chr9 35681992 35690055 9p13.2-p13.1 9p13.3 190990 TPM2, TMSB, AMCD1, DA1, DA2B, NEM4 Tropomyosin-2, beta TPM2 7169 ENSG00000198467 Arthrogryposis multiplex congenita, distal, type 1, 108120 (3), Autosomal dominant; Arthrogryposis, distal, type 2B, 601680 (3), Autosomal dominant; CAP myopathy 2, 609285 (3), Autosomal dominant; Nemaline myopathy 4, autosomal dominant, 609285 (3), Autosomal dominant
chr9 35697336 35732394 9p 9p13.3 186745 TLN1 Talin 1 TLN1 7094 ENSG00000137076 Tln1 (MGI:1099832)
chr9 35732319 35737007 9p13.3 9p13.3 606443 CREB3, LZIP cAMP response element-binding protein 3 CREB3 10488 ENSG00000107175 Creb3 (MGI:99946)
chr9 35736861 35749235 9p13.3 9p13.3 609471 GBA2, KIAA1605, SPG46 Glucosidase, beta, acid 2 GBA2 57704 ENSG00000070610 Spastic paraplegia 46, autosomal recessive, 614409 (3), Autosomal recessive Gba2 (MGI:2654325)
chr9 35749279 35753266 9p13.3 9p13.3 615742 RGP1, KIAA0258 RGP1 retrograde golgi transport, S. cerevisiae, homolog of RGP1 9827 ENSG00000107185 Rgp1 (MGI:1915956)
chr9 35752989 35754276 9p13.3 9p13.3 612191 MSMP, PSMP Microseminoprotein, prostate-associated MSMP 692094 ENSG00000215183 Msmp (MGI:3652339)
chr9 35782085 35809730 9p21-p12 9p13.3 108961 NPR2, ANPRB, AMDM, ECDM, SNSK Natiuretic peptide receptor 2 NPR2 4882 ENSG00000159899 Acromesomelic dysplasia, Maroteaux type, 602875 (3), Autosomal recessive; Epiphyseal chondrodysplasia, Miura type, 615923 (3), Autosomal dominant; Short stature with nonspecific skeletal abnormalities, 616255 (3), Autosomal dominant Npr2 (MGI:97372)
chr9 35807784 35812271 9p13-p12 9p13.3 605731 SPAG8, SMP1 Sperm-associated antigen 8 SPAG8 26206 ENSG00000137098 Spag8 (MGI:3056295)
chr9 35812959 35815478 9p11.2 9p13.3 609997 HINT2 Histidine triad nucleotide-binding protein 2 HINT2 84681 ENSG00000137133 Hint2 (MGI:1916167)
chr9 35825816 35865514 9p13.3 9p13.3 616888 TMEM8B, NGX6, NAG5 Transmembrane protein 8B TMEM8B 51754 ENSG00000137103 Tmem8b (MGI:2441680)
chr9 35909482 35911619 9p13.3 9p13.3 617627 SPAAR, LINC00961 Small regulatory polypeptide of amino acid response SPAAR 158376 ENSG00000235387
chr9 36036904 36124454 9p13-p12 9p13.3 605227 RECK, ST15 Reversion-inducing cysteine-rich protein with kazal motifs (suppressor of tumorigenicity 15) RECK 8434 ENSG00000122707 Reck (MGI:1855698)
chr9 36136535 36163912 9p13.3 9p13.3 607141 GLIPR2, GAPR1, C9orf19 GLI pathogenesis-related 2 GLIPR2 152007 ENSG00000122694 Glipr2 (MGI:1917770)
chr9 36169391 36171333 9p13.3 9p13.3 603960 CCIN Calicin CCIN 881 ENSG00000185972 Ccin (MGI:3045316)
chr9 36190854 36212061 9p13.3 9p13.3 118960 CLTA Clathrin, light polypeptide (Lca) CLTA 1211 ENSG00000122705 previously mapped to 12q23-q24 Clta (MGI:894297)
chr9 36214440 36277055 9p13.3 9p13.3 603824 GNE, GLCNE, IBM2, DMRV, NM UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase GNE 10020 ENSG00000159921 Nonaka myopathy, 605820 (3), Autosomal recessive; Sialuria, 269921 (3), Autosomal dominant Gne (MGI:1354951)
chr9 36336397 36487383 9p13 9p13.2 612488 RNF38 Ring finger protein 38 RNF38 152006 ENSG00000137075 Rnf38 (MGI:1920719)
chr9 36572861 36677682 Chr.9 9p13.2 607025 MELK, KIAA0175 Maternal embryonic leucine zipper kinase MELK 9833 ENSG00000165304 Melk (MGI:106924)
chr9 36833274 37034478 9p13 9p13.2 167414 PAX5, BSAP, ALL3 Paired box homeotic gene-5 (B-cell lineage specific activator protein) PAX5 5079 ENSG00000196092 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3) Pax5 (MGI:97489)
chr9 37422434 37438951 9cen 9p13.2 604296 GRHPR, GLXR Glyoxylate reductase/hydroxypyruvate reductase GRHPR 9380 ENSG00000137106 Hyperoxaluria, primary, type II, 260000 (3), Autosomal recessive Grhpr (MGI:1923488)
chr9 37438101 37465409 9p13.2 9p13.2 616590 ZBTB5, KIAA0354 Zinc finger- and BTB domain-containing protein 5 ZBTB5 9925 ENSG00000168795 Zbtb5 (MGI:1924601)
chr9 37510891 37576458 9p13.1 9p13.2 609092 FBXO10, FBX10 F-box only protein 10 FBXO10 26267 ENSG00000147912 Fbxo10 (MGI:2686937)
chr9 37588412 37592638 9p13.2 9p13.2 616169 TOMM5, TOM5 Translocase of outer mitochondrial membrane 5, yeast, homolog of TOMM5 401505 ENSG00000175768
chr9 37602976 37746903 9p13.2 9p13.2 616919 FRMPD1, FRMD2, KIAA0967 FERM and PDZ domains-containing protein 1 FRMPD1 22844 ENSG00000070601 Frmpd1 (MGI:2446274)
chr9 37779713 37785091 9p13.2 9p13.2 606489 EXOSC3, RRP40, PCH1B Exosome component 3 EXOSC3 51010 ENSG00000107371 Pontocerebellar hypoplasia, type 1B, 614678 (3), Autosomal recessive Exosc3 (MGI:1913612)
chr9 37900000 69300000 9p13.1-q21.11 612096 OTSC8 Otosclerosis 8 OTSC8 100151644 between D9S970 and D9S1799 Otosclerosis 8, 612096 (2), Autosomal dominant
chr9 37915897 38069212 9p12-p11 9p13.1 600314 SHB SHB adaptor protein (a Src homology 2 protein) SHB 6461 ENSG00000107338 Shb (MGI:98294)
chr9 38392663 38398664 9p13 9p13.1 100670 ALDH1B1, ALDH5 Aldehyde dehydrogenase 1 family, member B1 ALDH1B1 219 ENSG00000137124 Aldh1b1 (MGI:1919785)
chr9 38406527 38424446 9p13.1 9p13.1 610413 IGFBPL1, IGFBPRP4 Insulin-like growth factor binding protein-like 1 IGFBPL1 347252 ENSG00000137142 Igfbpl1 (MGI:1933198)
chr9 39000000 61500000 9p12-q12 605388 ACP Cerebral palsy, ataxic, autosomal recessive CPAT1 60502 Cerebral palsy, ataxic, autosomal recessive, 605388 (2), Autosomal recessive
chr9 39072766 39288302 9p13.1 9p12 610517 CNTNAP3, KIAA1714 Contactin-associated protein-like 3 CNTNAP3 79937 ENSG00000106714 Cntnap3 (MGI:3588199)
chr9 40000000 43000000 9p11 155900 MROS Melkersson-Rosenthal syndrome MROS 8011 ?Melkersson-Rosenthal syndrome, 155900 (2), Autosomal dominant
chr9 43000000 138394717 9q 609320 HCHGQ2 Hematocrit/hemoglobin quantitative trait locus 2 100381205 [Hematocrit/hemoglobin quantitative trait locus 2], 609320 (2)
chr9 43000000 138394717 9q 607152 SPG19 Spastic paraplegia-19 SPG19 140907 Spastic paraplegia 19, autosomal dominant, 607152 (2), Autosomal dominant
chr9 45500000 61500000 9q12 126330 DNCM Cytoplasmic membrane DNA 1784 in 9qh
chr9 61190035 61196279 9q12 9q12 616584 SPATA31A7, AEP1, FAM75A7, C9orf36 Spermatogenesis-associated protein 31, subfamily A, member 7 SPATA31A7 26165 ENSG00000276040 Spata31 (MGI:1925374)
chr9 61500000 65000000 9q13 600884 CMD1B, CMPD1, FDC Cardiomyopathy, dilated-1B, autosomal dominant CMD1B 1218 Cardiomyopathy, dilated 1B, 600884 (2), Autosomal dominant
chr9 61500000 99800000 9q13-q22 605749 CTRCT26, CAAR Cataract 26, multiple types CTPL1 81863 Cataract 26, multiple types, 605749 (2)
chr9 61500000 87800000 9q13-q21 190100 GSM1, GSP Geniospasm 1 GSM1 2933 Geniospasm, 190100 (2), Autosomal dominant
chr9 65000000 69300000 9q21.11 613558 DFNA51, C9DUPq21.11, DUP9q21.11 Deafness, autosomal dominant 51 (chromosome 9q21.11 duplication syndrome) 259kb duplication involving TJP2 and FAM189A2 Deafness, autosomal dominant 51, 613558 (4), Autosomal dominant
chr9 65000000 99800000 9q21-q22 611631 ETL4, ETOLM Epilepsy, familial temporal lobe, 4 100144434 between GATA152H04 and D9S253 Epilepsy, familial temporal lobe, 4, 611631 (2), Autosomal dominant
chr9 65000000 87800000 9q21 613088 PVOP2 Pelvic organ prolapse, susceptibility to, 2 100312955 between rs4077632 and rs10868525 {Pelvic organ prolapse, susceptibility to, 2}, 613088 (2)
chr9 65737145 65738395 9p11.2 9q21.11 611085 FOXD4L4, FOXD4L2 Forkhead box D4-like 4 FOXD4L4 349334 ENSG00000184659
chr9 66900724 66932140 9q21.11 9q21.11 616290 ZNF658 Zinc finger protein 658 ZNF658 26149 ENSG00000274349 Gm7145,Zfp735,Zfp616 (MGI:3648947,MGI:1923640,MGI:3650906)
chr9 68241865 68300034 9q13 9q21.11 611080 CBWD3 Cobalamin synthetase W domain-containing protein 3 CBWD3 445571 ENSG00000196873
chr9 68302866 68305083 9q13 9q21.11 611086 FOXD4L3 Forkhead box D4-like 3 FOXD4L3 286380 ENSG00000187559
chr9 68356583 68531060 9p12-q12 9q21.11 600981 PGM5 Phosphoglucomutase-5 PGM5 5239 ENSG00000154330 Pgm5 (MGI:1925668)
chr9 68705216 69009175 9q13 9q21.11 602745 PIP5K1B, STM7, MSS4 Phosphatidylinositol-4-phosphate 5-kinase, type I, beta PIP5K1B 8395 ENSG00000107242 Pip5k1b (MGI:107930)
chr9 68780005 68783878 9q21.1 9q21.11 617249 FAM122A, C9orf42 Family with sequence similarity 122, member A FAM122A 116224 ENSG00000187866 Fam122a (MGI:1915284)
chr9 69012528 69014122 9q21.11 9q21.11 176893 PRKACG, BDPLT19 Protein kinase, cAMP-dependent, catalytic, gamma PRKACG 5568 ENSG00000165059 mutation identified in 1 BDPLT19 family ?Bleeding disorder, platelet-type, 19, 616176 (3), Autosomal recessive
chr9 69035562 69079076 9q13 9q21.11 606829 FXN, FRDA, FARR, X25 Frataxin FXN 2395 ENSG00000165060 Friedreich ataxia, 229300 (3), Autosomal recessive; Friedreich ataxia with retained reflexes, 229300 (3), Autosomal recessive Fxn (MGI:1096879)
chr9 69121005 69255207 9q12-q13 9q21.11 607709 TJP2, ZO2, PFIC4 Tight junction protein 2 TJP2 9414 ENSG00000119139 Cholestasis, progressive familial intrahepatic 4, 615878 (3), Autosomal recessive; Hypercholanemia, familial, 607748 (3) Tjp2 (MGI:1341872)
chr9 69324571 69392472 9q13-q21 9q21.12 607710 X123 X123 gene FAM189A2 9413 ENSG00000135063 Fam189a2 (MGI:2685813)
chr9 69427531 69673011 9q21.11-q21.12 9q21.12 602414 APBA1, X11, D9S411E, MINT1, LIN10 Amyloid beta A4 precursor protein-binding, family A, member 1 APBA1 320 ENSG00000107282 Apba1 (MGI:1860297)
chr9 70043580 70226971 9q21.11 9q21.12 612879 MAMDC2 MAM domain-containing 2 MAMDC2 256691 ENSG00000165072 Mamdc2 (MGI:1918988)
chr9 70258961 70354872 9q21.11 9q21.12 609386 SMC5L1, SMC5, KIAA0594 Structural maintenance of chromosomes 5-like 1 SMC5 23137 ENSG00000198887 Smc5 (MGI:2385088)
chr9 70384596 70414656 9q13 9q21.12 602902 BTEB1, BTEB Basic transcription element-binding protein 1 KLF9 687 ENSG00000119138 Klf9 (MGI:1333856)
chr9 70529062 71446949 9q21.12 9q21.12-q21.13 608961 TRPM3, MLSN2, LTRPC3, KIAA1616 Transient receptor potential cation channel, subfamily M, member 3 TRPM3 80036 ENSG00000083067 Trpm3 (MGI:2443101)
chr9 70809974 70810083 9q21.11 9q21.12 610942 MIR204, MIRN204, RDICC Micro RNA 204 MIR204 406987 mutation identified in 1 RDICC family ?Retinal dystrophy and iris coloboma with or without cataract, 616722 (3), Autosomal dominant
chr9 71683365 71769531 9q13-q21 9q21.13 605835 TMEM2 Transmembrane protein 2 CEMIP2 23670 ENSG00000135048 Tmem2 (MGI:1890373)
chr9 72114594 72256044 9q21.13 9q21.13 139260 GDA, CYPIN Guanine deaminase GDA 9615 ENSG00000119125 Gda (MGI:95678)
chr9 72351424 72365246 9q13-q21 9q21.13 604761 ZFAND5, ZNF216 Zinc finger AN1 domain-containing protein 5 ZFAND5 7763 ENSG00000107372 Zfand5 (MGI:1278334)
chr9 72521800 72836350 9q13-q21 9q21.13 606706 TMC1, DFNB7, DFNB11, DFNA36 Transmembrane channel-like protein 1 TMC1 117531 ENSG00000165091 Deafness, autosomal dominant 36, 606705 (3), Autosomal dominant; Deafness, autosomal recessive 7, 600974 (3), Autosomal recessive Tmc1 (MGI:2151016)
chr9 72900661 72953316 9q21 9q21.13 100640 ALDH1A1 Aldehyde dehydrogenase-1 family, member A1, soluble ALDH1A1 216 ENSG00000165092 Aldh1a1 (MGI:1353450)
chr9 73151730 73170392 9q11-q22 9q21.13 151690 ANXA1, LPC1 Annexin A1 (lipocortin I) ANXA1 301 ENSG00000135046 Anxa1 (MGI:96819)
chr9 74497335 74687200 9q22 9q21.13 601972 RORB, RZRB RAR-related orphan receptor B RORB 6096 ENSG00000198963 Rorb (MGI:1343464)
chr9 74722494 74888093 9q22 9q21.13 607009 TRPM6, CHAK2, HOMG1 Transient receptor potential cation channel, subfamily M, member 6 TRPM6 140803 ENSG00000119121 Hypomagnesemia 1, intestinal, 602014 (3), Autosomal recessive Trpm6 (MGI:2675603)
chr9 74980793 75028455 9q21.13 9q21.13 616552 CARNMT1, C9orf41, UPF0586 Carnosine N-methyltransferase 1 CARNMT1 138199 ENSG00000156017 Carnmt1 (MGI:1914633)
chr9 75088479 75147197 9q21.13 9q21.13 610180 OSTF1, OSF, SH3P2 Osteoclast-stimulating factor 1 OSTF1 26578 ENSG00000134996 Ostf1 (MGI:700012)
chr9 75890643 76362338 9q21.3 9q21.13 600488 PCSK5 Proprotein convertase subtilisin/kexin type 5 PCSK5 5125 ENSG00000099139 ?close to LPC1 on 9q Pcsk5 (MGI:97515)
chr9 76385516 76394527 9q21.1 9q21.13 613010 RFK Riboflavin kinase RFK 55312 ENSG00000135002 Rfk (MGI:1914688)
chr9 76441665 76507415 9q13 9q21.13 600391 GCNT1 Glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) GCNT1 2650 ENSG00000187210 Gcnt1 (MGI:95676)
chr9 76611375 76906219 9p13 9q21.2 610691 PRUNE2, BMCC1, KIAA0367 PRUNE, Drosophila, homolog of, 2 PRUNE2 158471 ENSG00000106772 Prune2 (MGI:1925004)
chr9 76764435 76787568 9q21-q22 9q21.2 604845 PCA3, DD3 Prostate cancer antigen 3 PCA3 50652
chr9 77177352 77421536 9q21 9q21.2 605978 VPS13A, CHAC Vacuolar protein sorting 13A (chorein) VPS13A 23230 ENSG00000197969 Choreoacanthocytosis, 200150 (3), Autosomal recessive Vps13a (MGI:2444304)
chr9 77423078 77648315 9q21 9q21.2 604397 GNA14 Guanine nucleotide-binding protein, alpha-14 GNA14 9630 ENSG00000156049 Gna14 (MGI:95769)
chr9 77716273 78031448 9q21 9q21.2 600998 GNAQ, SWS, CMC1 Guanine nucleotide-binding protein (G protein), q GNAQ 2776 ENSG00000156052 pseudogene on 2q Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3); Sturge-Weber syndrome, somatic, mosaic, 185300 (3) Gnaq (MGI:95776)
chr9 78236061 78278436 9q21.2 9q21.2 617110 CEP78, CRDHL Centrosomal protein, 78kD CEP78 84131 ENSG00000148019 Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive Cep78 (MGI:1924386)
chr9 78297074 78330092 9q21.31 9q21.2 610936 PSAT1, PSAT, EPIP, PSATD, NLS2 Phosphoserine aminotransferase 1 PSAT1 29968 ENSG00000135069 mutation identified in 1 PSATD family Neu-Laxova syndrome 2, 616038 (3), Autosomal recessive; ?Phosphoserine aminotransferase deficiency, 610992 (3), Autosomal recessive Psat1 (MGI:2183441)
chr9 78500000 99800000 9q21.3-q22 267700 FHL1, HPLH1, HLH1 Hemophagocytic lymphohistiocytosis, familial, 1 HPLH1 27259 Hemophagocytic lymphohistiocytosis, familial, 1, 267700 (2), Autosomal recessive
chr9 81583682 81689534 9q21.3 9q21.32 600189 TLE1, ESG1 Transducin-like enhancer of split 1 (homolog of Drosophila E(spl)) TLE1 7088 ENSG00000196781 conflicting assignment to chr.19 Tle1 (MGI:104636)
chr9 82979584 83063171 9q21.32 9q21.32 611344 RASEF RAS and EF-hand domains-containing protein RASEF 158158 ENSG00000165105 Rasef (MGI:2448565)
chr9 83242989 83585796 9q21-q22 9q21.32 607619 FRMD3, EPB41LO FERM domain-containing 3 FRMD3 257019 ENSG00000172159 Frmd3 (MGI:2442466)
chr9 83622323 83644129 9q21.32 9q21.32 611343 C9orf103 Chromosome 9 open reading frame 103 IDNK 414328 ENSG00000148057 Idnk (MGI:1922981)
chr9 83659962 83708252 9q21.2-q21.3 9q21.32 605046 UBQLN1, DA41 Ubiquilin 1 (Da41, rat, homolog of) UBQLN1 29979 ENSG00000135018 Ubqln1 (MGI:1860276)
chr9 83739420 83817836 9q21.32 9q21.32 611356 GKAP1, GKAP42 G kinase-anchoring protein 1 GKAP1 80318 ENSG00000165113 Gkap1 (MGI:1891694)
chr9 83832794 83921543 9q21.32 9q21.32 611253 KIF27 Kinesin family member 27 KIF27 55582 ENSG00000165115 Kif27 (MGI:1922300)
chr9 83938310 83956985 9q21.32 9q21.32 611342 C9orf64 Chromosome 9 open reading frame 64 C9orf64 84267 ENSG00000165118 2210016F16Rik (MGI:1917403)
chr9 83968082 83980781 9q21.32-q21.33 9q21.32 600712 HNRNPK, HNRPK, AUKS Heterogeneous nuclear ribonucleoprotein K HNRNPK 3190 ENSG00000165119 Au-Kline syndrome, 616580 (3), Autosomal dominant Hnrnpk (MGI:99894)
chr9 83969747 83969856 9q21.32 9q21.32 615239 MIR7-1 Micro RNA 7-1 MIR7-1 407043
chr9 83980358 84004073 9q21.32 9q21.32 610404 RMI2, BLAP75, C9orf76 RecQ-mediated genome instability 1, S. cerevisiae, homolog of RMI1 80010 ENSG00000178966 Rmi1 (MGI:1921636)
chr9 84273122 84368633 9q22.2 9q21.32-q21.33 608269 SLC28A3, CNT3 Solute carrier family (sodium-coupled nucleoside transporter), member 3 SLC28A3 64078 ENSG00000197506 Slc28a3 (MGI:2137361)
chr9 84668457 85027069 9q21.33 9q21.33 600456 NTRK2, TRKB, OBHD, EIEE58 Neurotrophic tyrosine kinase, receptor, type 2 NTRK2 4915 ENSG00000148053 Epileptic encephalopathy, early infantile, 58, 617830 (3), Autosomal dominant; Obesity, hyperphagia, and developmental delay, 613886 (3), Autosomal dominant Ntrk2 (MGI:97384)
chr9 85546538 85742028 9q21.33 9q21.33 606830 AGTPBP1, NNA1, KIAA1035, CCP1 ATP/GTP-binding protein 1 AGTPBP1 23287 ENSG00000135049 Agtpbp1 (MGI:2159437)
chr9 86026140 86100200 9q21.33 9q21.33 606804 GOLM1, GOLPH2, GP73, C9orf155 Golgi membrane protein 1 GOLM1 51280 ENSG00000135052 Golm1 (MGI:1917329)
chr9 86264545 86282574 9q21.2-q22.1 9q21.33 611006 ISCA1, HBLD2, HISCA, MMDS5 Iron-sulfur cluster assembly 1, S. cerevisiae, homolog of ISCA1 81689 ENSG00000135070 Multiple mitochondrial dysfunctions syndrome 5, 617613 (3), Autosomal recessive Isca1 (MGI:1916296)
chr9 86287732 86354496 9q21.33 9q21.33 613467 ZCCHC6, TUT7, KIAA1711 Zinc finger CCHC domain-containing protein 6 ZCCHC6 79670 ENSG00000083223 Zcchc6 (MGI:2387179)
chr9 86944361 86947188 9q21.3-q22.1 9q21.33 139185 GAS1 Growth arrest-specific gene-1 GAS1 2619 ENSG00000180447 Gas1 (MGI:95655)
chr9 87497227 87708633 9q34.1 9q21.33 600831 DAPK1 Death-associated protein kinase-1 DAPK1 1612 ENSG00000196730 Dapk1 (MGI:1916885)
chr9 87725436 87731468 9q21-q22 9q21.33 116880 CTSL Cathepsin L CTSL 1514 ENSG00000135047 \'like\' sequence on 10q23-q24
chr9 87800000 99800000 9q22 608695 JOAG2 Glaucoma, primary open angle, juvenile-onset, 2 GLC1J 574078 between D9S1803 and D9S196 Glaucoma, primary open angle, juvenile-onset, 2, 608695 (2)
chr9 87800000 99800000 9q22 610114 STQTL8 Stature quantitative trait locus 8 100037266 between GATA81C04M and ATA18A07M {Stature QTL 8}, 610114 (2)
chr9 87966440 87974779 9q22.1 9q22.1 610076 CDK20, CCRK, CDCH, P42 Cyclin-dependent kinase 20 CDK20 23552 ENSG00000156345 Cdk20 (MGI:2145349)
chr9 88388381 88478707 9q22.1-q22.3 9q22.1 609936 SPIN, SPIN1 Spindlin SPIN1 10927 ENSG00000106723 Spin1 (MGI:109242)
chr9 88535087 88584509 9q22.1 9q22.1 615299 NXNL2, RDCVF2 Nucleoredoxin-like protein 2 NXNL2 158046 ENSG00000130045 Nxnl2 (MGI:1922374)
chr9 88991408 89005154 9q22.1-q22.2 9q22.1 601965 S1PR3, EDG3 Sphingosine-1-phosphate receptor 3 S1PR3 1903 ENSG00000213694 S1pr3 (MGI:1339365)
chr9 89005770 89182401 9q22.1 9q22.1 605263 SHC3, NSHC, RAI, SHCC SHC transforming protein 3 SHC3 53358 ENSG00000148082 Shc3 (MGI:106179)
chr9 89311194 89316702 9q22.2 9q22.2 116901 CKS2 CDC2-associated protein CKS2 CKS2 1164 ENSG00000123975 Cks2 (MGI:1913447)
chr9 89318472 89367116 9q22.2 9q22.2 607693 SECISBP2, SBP2 Selenocysteine insertion sequence-binding protein 2 SECISBP2 79048 ENSG00000187742 Thyroid hormone metabolism, abnormal, 609698 (3) Secisbp2 (MGI:1922670)
chr9 89360790 89498064 9q22.2 9q22.2 601866 SEMA4D, SEMAJ, CD100, COLL4 Semaphorin 4D SEMA4D 10507 ENSG00000187764 Sema4d (MGI:109244)
chr9 89605008 89606554 9q22.1-q22.2 9q22.2 604949 GADD45G, GRP17 Growth arrest- and DNA damage-inducible gene 45, gamma GADD45G 10912 ENSG00000130222 Gadd45g (MGI:1346325)
chr9 90609831 90643104 9q22.2 9q22.2 607863 DIRAS2 DIRAS family, GTP-binding Ras-like protein 2 DIRAS2 54769 ENSG00000165023 Diras2 (MGI:1915453)
chr9 90801679 90898559 9q22 9q22.2 600085 SYK Spleen tyrosine kinase SYK 6850 ENSG00000165025 Syk (MGI:99515)
chr9 91213814 91361968 9q22.31 9q22.31 600529 AUH AU-specific RNA-binding protein (3-methylglutaconyl-CoA hydratase) AUH 549 ENSG00000148090 3-methylglutaconic aciduria, type I, 250950 (3), Autosomal recessive Auh (MGI:1338011)
chr9 91409044 91425062 9q22.1-q22.3 9q22.31 605327 NFIL3, NFIL3A, E4BP4 Nuclear factor, interleukin 3-regulated NFIL3 4783 ENSG00000165030 Nfil3 (MGI:109495)
chr9 91722595 91950205 9q22 9q22.31 602337 ROR2, BDB1, BDB, NTRKR2 Receptor tyrosine kinase-like orphan receptor 2 ROR2 4920 ENSG00000169071 Brachydactyly, type B1, 113000 (3), Autosomal dominant; Robinow syndrome, autosomal recessive, 268310 (3), Autosomal recessive Ror2 (MGI:1347521)
chr9 92031133 92115473 9q22.1-q22.3 9q22.31 605712 SPTLC1, LBC1, SPT1, HSN1, HSAN Serine palmitoyltransferase, long-chain base subunit 1 SPTLC1 10558 ENSG00000090054 Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3), Autosomal dominant Sptlc1 (MGI:1099431)
chr9 92210206 92293755 9q21 9q22.31 600709 IARS, GRIDHH Isoleucine-tRNA synthetase IARS 3376 ENSG00000196305 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive Iars (MGI:2145219)
chr9 92297357 92325993 9q22.32 9q22.31 611534 NOL8, NOP132 Nucleolar protein 8 NOL8 55035 ENSG00000198000 Nol8 (MGI:1918180)
chr9 92325456 92615163 9q22.31 9q22.31 611505 CENPP Centromeric protein P CENPP 401541 ENSG00000188312 Cenpp (MGI:1913586)
chr9 92383270 92404698 9q22.3 9q22.31 602383 OGN, OIF Osteoglycin OGN 4969 ENSG00000106809 Ogn (MGI:109278)
chr9 92456204 92482561 9q21.3-q22 9q22.31 608135 ASPN, PLAP1, OS3 Asporin ASPN 54829 ENSG00000106819 {Lumbar disc degeneration}, 603932 (3); {Osteoarthritis susceptibility 3}, 607850 (3), Autosomal dominant Aspn (MGI:1913945)
chr9 92493546 92536840 9q22.3 9q22.31 603479 ECM2 Extracellular matrix protein-2 ECM2 1842 ENSG00000106823 Ecm2 (MGI:3039578)
chr9 92711362 92764840 9q22.3 9q22.31 609797 BICD2, KIAA0699, SMALED2 Bicaudal D, Drosophila, homolog of, 2 BICD2 23299 ENSG00000185963 Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 (3), Autosomal dominant Bicd2 (MGI:1924145)
chr9 92947318 93036235 9q22.31 9q22.31 617554 FGD3, ZFYVE5 FYVE, RhoGEF, and Ph domain-containing protein 3 FGD3 89846 ENSG00000127084 Fgd3 (MGI:1353657)
chr9 93058687 93085137 9q22.31 9q22.31 616429 SUSD3 SUSHI domain-containing protein 3 SUSD3 203328 ENSG00000157303 Susd3 (MGI:1913579)
chr9 93096122 93113294 9q22.32 9q22.31 617726 CARD19, BINCARD, C9orf89 Caspase recruitment domain-containing protein 19 CARD19 84270 ENSG00000165233 Card19 (MGI:1915730)
chr9 93121488 93134303 9q22 9q22.31 602062 NINJ1 Ninjurin NINJ1 4814 ENSG00000131669 Ninj1 (MGI:1196617)
chr9 93184155 93327580 9q22.3 9q22.31 606249 WNK2, PRKWNK2 WNK lysine deficient protein kinase 2 WNK2 65268 ENSG00000165238 Wnk2 (MGI:1922857)
chr9 93451695 93566114 9q22.31 9q22.31 612265 FAM120A, C9orf10, KIAA0183 Family with sequence similarity 120, member A FAM120A 23196 ENSG00000048828 Fam120a (MGI:2446163)
chr9 93576626 93679586 9q22 9q22.31 604351 PHF2 PHD finger protein-2 PHF2 5253 ENSG00000197724 Phf2 (MGI:1338034)
chr9 93951626 93955325 9q12 9q22.32 603260 BARX1 BarH-like homeo box gene 1 BARX1 56033 ENSG00000131668 Barx1 (MGI:103124)
chr9 94175956 94176035 9q22.32 9q22.32 605386 MIRLET7A1, LET7A1, MIRNLET7A1 Micro RNA Let7a1 MIRLET7A1 406881
chr9 94176346 94176432 9q22.32 9q22.32 612146 MIRLET7F1, LET7F1, MIRNLET7F1 Micro RNA Let7f1 MIRLET7F1 406888
chr9 94178833 94178919 9q22.32 9q22.32 612145 MIRLET7D, LET7D, MIRNLET7D Micro RNA Let7d MIRLET7D 406886
chr9 94259265 94303966 9q22.3 9q22.32 603404 ZNF169 Zinc finger protein-169 ZNF169 169841 ENSG00000175787 Zfp169 (MGI:1915161)
chr9 94558713 94593831 Chr.9 9q22.32 603027 FBP2 Fructose-1,6-bisphosphatase 2 FBP2 8789 ENSG00000130957 Fbp2 (MGI:95491)
chr9 94603132 94640257 9q22.2-q22.3 9q22.32 611570 FBP1 Fructose-bisphosphatase 1 FBP1 2203 ENSG00000165140 Fructose-1,6-bisphosphatase deficiency, 229700 (3), Autosomal recessive Fbp1 (MGI:95492)
chr9 95085207 95085303 9q22.32 9q22.32 610723 MIR23B, MIRN23B Micro RNA 23B MIR23B 407011
chr9 95085444 95085540 9q22.32 9q22.32 610636 MIR27B, MIRN27B Micro RNA 27B MIR27B 407019
chr9 95086020 95086087 9q22.32 9q22.32 609705 MIR189, MIRN24-1 Micro RNA 24-1 MIR24-1 407012
chr9 95099053 95317729 9q22.3 9q22.32 613899 FANCC, FACC Fanconi anemia, complementation group C FANCC 2176 ENSG00000158169 Fanconi anemia, complementation group C, 227645 (3), Autosomal recessive Fancc (MGI:95480)
chr9 95442979 95517056 9q22.3 9q22.32 601309 PTCH1, NBCCS, BCNS, HPE7 Patched, Drosophila, homolog of PTCH1 5727 ENSG00000185920 Basal cell carcinoma, somatic, 605462 (3); Basal cell nevus syndrome, 109400 (3), Autosomal dominant; Holoprosencephaly 7, 610828 (3), Autosomal dominant Ptch1 (MGI:105373)
chr9 95875617 96041091 9q22.32 9q22.32 615667 ERCC6L2, RAD26L, BMFS2 ERCC6-like 2 ERCC6L2 375748 ENSG00000182150 Bone marrow failure syndrome 2, 615715 (3), Autosomal recessive Ercc6l2 (MGI:1923501)
chr9 96235305 96313986 9q22 9q22.32 605573 HSD17B3, EDH17B3 Hydroxysteroid (17-beta) dehydrogenase 3 HSD17B3 3293 ENSG00000130948 Pseudohermaphroditism, male, with gynecomastia, 264300 (3), Autosomal recessive Hsd17b3 (MGI:107177)
chr9 96313436 96383709 9q22.3 9q22.32 609182 SLC35D2, HFRC1, SQV7L Solute carrier family 35, member D2 SLC35D2 11046 ENSG00000130958 Slc35d2 (MGI:1917734)
chr9 96385940 96418638 9q22.32 9q22.32 610160 ZNF367, AFF29 Zinc finger protein 367 ZNF367 195828 ENSG00000165244 Zfp367 (MGI:2442266)
chr9 96492742 96619829 9q22.32-q22.33 9q22.32-q22.33 603505 CDC14B Cell division cycle 14, S. cerevisiae, homolog B CDC14B 8555 ENSG00000081377 Cdc14b (MGI:2441808)
chr9 97029676 97039642 9q22.2 9q22.33 603308 CTSL2, CTSV Cathepsin L2 CTSV 1515 ENSG00000136943 Ctsl (MGI:88564)
chr9 97412019 97496124 9q22.33 9q22.33 611258 TDRD7, KIAA1529, TRAP, CATC4, CTRCT36 Tudor domain-containing protein 7 TDRD7 23424 ENSG00000196116 Cataract 36, 613887 (3), Autosomal recessive Tdrd7 (MGI:2140279)
chr9 97501179 97601742 9q22.3 9q22.33 190930 TMOD Tropomodulin TMOD1 7111 ENSG00000136842 Tmod1 (MGI:98775)
chr9 97633422 97673747 9q22.3-q31 9q22.33 600469 NCBP1 Nuclear cap binding protein 1, 80kD NCBP1 4686 ENSG00000136937 in 500kb of XPA Ncbp1 (MGI:1891840)
chr9 97654397 97697408 9q22.3 9q22.33 611153 XPA, XPAC XPA complementing gene XPA 7507 ENSG00000136936 Xeroderma pigmentosum, group A, 278700 (3), Autosomal recessive Xpa (MGI:99135)
chr9 97853254 97856714 9q22 9q22.33 602617 FOXE1, FKHL15, TITF2, TTF2, NMTC4 Forkhead box E1 (thyroid transcription factor-2) FOXE1 2304 ENSG00000178919 Bamforth-Lazarus syndrome, 241850 (3), Autosomal recessive; {Thyroid cancer, nonmedullary, 4}, 616534 (3), Autosomal dominant Foxe1 (MGI:1353500)
chr9 97926790 97944914 9q22 9q22.33 610715 HEMGN, EDAG Hemogen HEMGN 55363 ENSG00000136929 Hemgn (MGI:2136910)
chr9 98056676 98083082 9q22.33 9q22.33 605202 NANS, SAS, SEMDCG N-acetylneuraminic acid synthase (sialic acid synthase) NANS 54187 ENSG00000095380 Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive Nans (MGI:2149820)
chr9 98072013 98119419 9q22-q31 9q22.33 606556 TRIM14, KIAA0129 Tripartite motif-containing protein 14 TRIM14 9830 ENSG00000106785 Trim14 (MGI:1921985)
chr9 98120974 98192673 9q22.3 9q22.33 602159 CORO2A, WDR2, IR10 Coronin 2A CORO2A 7464 ENSG00000106789 Coro2a (MGI:1345966)
chr9 98198997 98255720 9q22.3 9q22.33 609871 TBC1D2, PARIS1 TBC1 domain family, member 2 TBC1D2 55357 ENSG00000095383 Tbc1d2 (MGI:2652885)
chr9 98288081 98709196 9q22.1 9q22.33 607340 GABBR2, GPR51, EIEE59, NDPLHS Gamma-aminobutyric acid B receptor 2 GABBR2 9568 ENSG00000136928 Epileptic encephalopathy, early infantile, 59, 617904 (3), Autosomal dominant; Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3), Autosomal dominant; {Nicotine dependence, protection against}, 188890 (3); {Nicotine dependence, susceptibility to}, 188890 (3) Gabbr2 (MGI:2386030)
chr9 98732008 98796541 9q22.33 9q22.33 615370 ANKS6, PKDR1, NPHP16 Ankyrin repeat and sterile alpha motif domains-containing protein 6 ANKS6 203286 ENSG00000165138 Nephronophthisis 16, 615382 (3), Autosomal recessive Anks6 (MGI:1922941)
chr9 98807698 98850080 9q22 9q22.33 610290 GALNT12, CRCS1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 GALNT12 79695 ENSG00000119514 {Colorectal cancer, susceptibility to, 1}, 608812 (3) Galnt12 (MGI:2444664)
chr9 98943391 99070791 9q21-q22 9q22.33 120325 COL15A1 Collagen XV, alpha-1 polypeptide COL15A1 1306 ENSG00000204291 Col15a1 (MGI:88449)
chr9 99104037 99154191 9q22 9q22.33 190181 TGFBR1, ALK5, AAT5, LDS1, MSSE Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD) TGFBR1 7046 ENSG00000106799 Loeys-Dietz syndrome 1, 609192 (3), Autosomal dominant; {Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3), Autosomal dominant Tgfbr1 (MGI:98728)
chr9 99216424 99221963 9q22 9q22.33 607905 ALG2, CDGII, CMSTA3, CMS14 Alg2, S. cerevisiae, homolog of ALG2 85365 ENSG00000119523 mutation identified in 1 CDGII patient ?Congenital disorder of glycosylation, type Ii, 607906 (3), Autosomal recessive; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3), Autosomal recessive Alg2 (MGI:1914731)
chr9 99222287 99230618 9q22.33 9q22.33 609214 SEC61B Sec61 complex, beta subunit SEC61B 10952 ENSG00000106803 Sec61b (MGI:1913462)
chr9 99800000 105400000 9q31.1 614954 CHDT3 Congenital heart defects, multiple types, 3 101154642 max lod at D9S1690 Congenital heart defects, multiple types, 3, 614954 (2), Autosomal dominant
chr9 99800000 114900000 9q31-q32 608026 HNP1 Hypertensive nephropathy 574045 Hypertensive nephropathy, 608026 (2)
chr9 99800000 112100000 9q31 600156 HSCR5 Hirschsprung disease, susceptibility to, 5 404720 {Hirschsprung disease, susceptibility to, 5}, 600156 (2), Autosomal dominant
chr9 99800000 112100000 9q31 607853 PAND2 Panic disorder 2 619493 max lod at D9S271 Panic disorder 2, 607853 (2)
chr9 99800000 138394717 9q31-q34 183840 SPDA2 Spondyloarthropathy, susceptibility to, 2 791255 max lod at D9S1776 {Spondyloarthropathy, susceptibility to, 2}, 183840 (2), Autosomal dominant
chr9 99821854 99866892 9q22 9q31.1 600542 CSMF Chondrosarcoma, extraskeletal myxoid, fused to EWS in NR4A3 8013 ENSG00000119508 t(9;17)(q22;q11); t(9;22)(q22;q11-q12) Chondrosarcoma, extraskeletal myxoid, 612237 (3) Nr4a3 (MGI:1352457)
chr9 99906632 99974540 9q31 9q31.1 604204 STX17 Syntaxin 17 STX17 55014 ENSG00000136874 Stx17 (MGI:1914977)
chr9 99979178 100099051 9q31.1 9q31.1 609170 TXNDC4, KIAA0573 Thioredoxin domain-containing protein 4 ERP44 23071 ENSG00000023318 Erp44 (MGI:1923549)
chr9 100099184 100302174 9q31 9q31.1 243305 INVS, INV, NPHP2, NPH2 Inversin INVS 27130 ENSG00000119509 Nephronophthisis 2, infantile, 602088 (3), Autosomal recessive Invs (MGI:1335082)
chr9 100302074 100352976 9q31.1 9q31.1 616717 TEX10 Testis-expressed gene 10 TEX10 54881 ENSG00000136891 Tex10 (MGI:1344413)
chr9 100473237 100577635 9q31 9q31.1 603421 TMEFF1, C9orf2 Transmembrane protein with EGF-like and 2 follistatin-like domains 1 TMEFF1 8577 ENSG00000241697 Tmeff1 (MGI:1926810)
chr9 100578078 100588388 9q31 9q31.1 617714 CAVIN4, MURC Caveolae-associated protein 4 CAVIN4 347273 ENSG00000170681 Cavin4 (MGI:1915266)
chr9 101360416 101385004 9q22.3 9q31.1 602938 BAAT Bile acid coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase) BAAT 570 ENSG00000136881 Hypercholanemia, familial, 607748 (3) Baat (MGI:106642)
chr9 101389966 101398636 9q31.1 9q31.1 611854 MRPL50 Mitochondrial ribosomal protein L50 MRPL50 54534 ENSG00000136897 pseudogenes on 2, 5, and 10 Mrpl50 (MGI:107329)
chr9 101398829 101410659 9q22-q31 9q31.1 603132 ZNF189 Zinc finger protein-189 ZNF189 7743 ENSG00000136870 Zfp189 (MGI:2444707)
chr9 101420559 101435779 9q22.3 9q31.1 612724 ALDOB Aldolase B, fructose-bisphosphatase ALDOB 229 ENSG00000136872 Fructose intolerance, hereditary, 229600 (3), Autosomal recessive Aldob (MGI:87995)
chr9 101533848 101563343 9q31.1 9q31.1 607699 RNF20, BRE1A Ring finger protein 20 RNF20 56254 ENSG00000155827 Rnf20 (MGI:1925927)
chr9 101569351 101738579 9q31.1 9q31.1 606650 GRIN3A, NR3A Glutamate receptor, ionotropic, N-methyl-D-aspartate 3A GRIN3A 116443 ENSG00000198785 Grin3a (MGI:1933206)
chr9 101591614 101595000 9q31.1 9q31.1 613821 PPP3R2, PPP3RL, CBLP Protein phosphatase 3, regulatory subunit B, beta PPP3R2 5535 ENSG00000188386 Ppp3r2 (MGI:107171)
chr9 102995310 103018487 9q31.1 9q31.1 604035 CYLC2 Cylicin 2 CYLC2 1539 ENSG00000155833
chr9 104093759 104141418 Chr.9 9q31.1 605576 CAPE Chromosome-associated protein E SMC2 10592 ENSG00000136824 Smc2 (MGI:106067)
chr9 104747567 104760123 9q31.1 9q31.1 608871 NIPSNAP3A, TASSC NIPSNAP, C. elegans, homolog of, 3A NIPSNAP3A 25934 ENSG00000136783 Nipsnap3b (MGI:1913786)
chr9 104781001 104928245 9q22-q31 9q31.1 600046 ABCA1, ABC1, HDLDT1, TGD ATP-binding cassette 1 ABCA1 19 ENSG00000165029 {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3), Autosomal dominant; HDL deficiency, type 2, 604091 (3); Tangier disease, 205400 (3), Autosomal recessive Abca1 (MGI:99607)
chr9 105244604 105439774 9q31.2 9q31.1-q31.2 606105 SLC44A1, CTL1, CDW92 Solute carrier family 44, member 1 SLC44A1 23446 ENSG00000070214 Slc44a1 (MGI:2140592)
chr9 105400000 134500000 9q31.2-q34.2 612238 IS4 Scoliosis, idiopathic, susceptibility to, 4 100190785 max lod at D9S2157 {Scoliosis, idiopathic, susceptibility to, 4}, 612238 (2)
chr9 105400000 108500000 9q31.2 612883 MENAQ3 Menarche, age at, QTL3 100302563 associated with rs2090409 {Menarche, age at, QTL3}, 612883 (2)
chr9 105442182 105552432 9q31 9q31.2 609829 FSD1NL, FSD1L, MIR1, CCDC10 FSD1 N-terminus-like protein FSD1L 83856 ENSG00000106701 Fsd1l (MGI:2442443)
chr9 105558116 105655949 9q31 9q31.2 607440 FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4 Fukutin FKTN 2218 ENSG00000106692 Cardiomyopathy, dilated, 1X, 611615 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3), Autosomal recessive Fktn (MGI:2179507)
chr9 105662456 105663111 9q31 9q31.2 186855 TAL2 T-cell acute lymphocytic leukemia-2 TAL2 6887 ENSG00000186051 33kb from breakpoint in t(7;9) Leukemia, T-cell acute lymphocytic, somatic, 613065 (3) Tal2 (MGI:99540)
chr9 105694524 105776610 9q31.2 9q31.2 611236 TMEM38B, TRICB, OI14 Transmembrane protein 38B TMEM38B 55151 ENSG00000095209 Osteogenesis imperfecta, type XIV, 615066 (3) Tmem38b (MGI:1098718)
chr9 106860153 107013633 9q31.2 9q31.2 617371 ZNF462, KIAA1803 Zinc finger protein 462 ZNF462 58499 ENSG00000148143 Zfp462 (MGI:107690)
chr9 107283235 107332193 9q31.2 9q31.2 600062 RAD23B RAD23 (Saccharomyces cerevisiae) homolog of, B RAD23B 5887 ENSG00000119318 previously 3p25.1 Rad23b (MGI:105128)
chr9 107484851 107489719 9q31 9q31.2 602253 KLF4, EZF, GKLF Kruppel-like factor 4 KLF4 9314 ENSG00000136826 Klf4 (MGI:1342287)
chr9 108854587 108855994 9q31 9q31.3 604304 ACTL7B Actin-like 7B ACTL7B 10880 ENSG00000148156 Actl7b (MGI:1343053)
chr9 108862227 108863754 9q31 9q31.3 604303 ACTL7A Actin-like 7A ACTL7A 10881 ENSG00000187003 Actl7a (MGI:1343051)
chr9 108867516 108934331 9q31 9q31.3 603722 IKBKAP, IKAP Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase complex-associated protein ELP1 8518 ENSG00000070061 Dysautonomia, familial, 223900 (3), Autosomal recessive Ikbkap (MGI:1914544)
chr9 108942568 109013593 9q31.2 9q31.3 604785 CTNNAL1 Catenin, alpha-like, 1 CTNNAL1 8727 ENSG00000119326 Ctnnal1 (MGI:1859649)
chr9 109046228 109046297 9q31.3 9q31.3 609355 MIR32, MIRN32 Micro RNA 32 MIR32 407036
chr9 109130292 109167290 9q31.3 9q31.3 604574 FRRS1L, C9orf4, CG6, EIEE37 Ferric-chelate reductase 1-like FRRS1L 23732 ENSG00000260230 Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive Frrs1l (MGI:2442704)
chr9 109171973 109320963 9q31-q32 9q31.3 610340 EPB41L4B, EHM2 Erythrocyte membrane protein band 4.1-like 4B EPB41L4B 54566 ENSG00000095203 Epb41l4b (MGI:1859149)
chr9 109375693 109538394 9q31.3 9q31.3 176877 PTPN3, PTPH1 Protein-tyrosine phosphatase, nonreceptor-type, 3 PTPN3 5774 ENSG00000070159 Ptpn3 (MGI:105307)
chr9 110048597 110172511 9q31-q33 9q31.3 604582 AKAP2, AKAPKL, KIAA0920, PALM2 A-kinase anchor protein 2 AKAP2 11217 ENSG00000241978 multiple splice variants Akap2 (MGI:1306795)
chr9 110243811 110256639 9q31 9q31.3 187700 TXN Thioredoxin TXN 7295 ENSG00000136810 incorrectly assigned to 3 Txn1 (MGI:98874)
chr9 110300899 110337886 9q32 9q31.3 617789 TXNDC8, SPTRX3 Thioredoxin domain-containing protein 8 TXNDC8 255220 ENSG00000204193 Txndc8 (MGI:1914652)
chr9 110365247 110579879 9q32 9q31.3 611691 SVEP1, POLYDOM, SELOB Sushi, von willebrand factor type A, EGF, and pentraxin domain-containing 1 SVEP1 79987 ENSG00000165124 Svep1 (MGI:1928849)
chr9 110668188 110806632 9q31.3-q32 9q31.3 601296 MUSK, CMS9, FADS Receptor tyrosine kinase MuSK MUSK 4593 ENSG00000030304 Fetal akinesia deformation sequence, 208150 (3), Autosomal recessive; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3), Autosomal recessive Musk (MGI:103581)
chr9 110873251 111039258 9q31.3 9q31.3 602282 LPAR1, EDG2, LPA1, VZG1 Lysophosphatidic acid receptor 1 LPAR1 1902 ENSG00000198121 Lpar1 (MGI:108429)
chr9 111360692 111484744 9q31.3 9q31.3 616694 KIAA0368, ECM29 KIAA0368 gene ECPAS 23392 ENSG00000136813 AI314180 (MGI:2140220)
chr9 111549721 111599854 9q31.3 9q31.3 601274 PTGR1, LTB4DH Prostaglandin reductase 1 PTGR1 22949 ENSG00000106853 Ptgr1 (MGI:1914353)
chr9 111661570 111670245 9q31.3 9q31.3 604389 GNG10 Guanine nucleotide-binding protein, gamma 10 GNG10 2790 ENSG00000242616 Gng10 (MGI:1336169)
chr9 111896765 111935373 9q31 9q31.3 602874 UGCG, GCS UDP-glucose ceramide glucosyltransferase UGCG 7357 ENSG00000148154 Ugcg (MGI:1332243)
chr9 112100000 127500000 9q32-q33 611488 ARMD10 Macular degeneration, age-related, 10 107880065 Macular degeneration, age-related, 10, 611488 (2)
chr9 112100000 127500000 9q32-q33 608762 EIG3 Epilepsy, idiopathic generalized, susceptibility to 3 432400 {Epilepsy, idiopathic generalized, susceptibility to, 3}, 608762 (2), Autosomal recessive
chr9 112100000 114900000 9q32 612259 IBD16 Inflammatory bowel disease 16, susceptibility to 100190930 {Inflammatory bowel disease 16}, 612259 (2)
chr9 112217714 112333668 Chr.9 9q32 607527 ROD1 Regulator of differentiation 1 PTBP3 9991 ENSG00000119314 Ptbp3 (MGI:1923334)
chr9 112486967 112665310 3q32 9q32 617390 KIAA1958 KIAA1958 gene KIAA1958 158405 ENSG00000165185
chr9 112683947 112718148 9q32 9q32 613273 INIP, C9orf80, SOSSC INST3- and NABP-interacting protein INIP 58493 ENSG00000148153 Inip (MGI:1913459)
chr9 112878919 112895537 9q31-q34 9q32 608956 SLC46A2, TSCOT Solute carrier family 46, member 2 SLC46A2 57864 ENSG00000119457 Slc46a2 (MGI:1353616)
chr9 113041814 113056790 9q32 9q32 602951 ZFP37 Zinc finger protein-37, mouse, homolog of ZFP37 7539 ENSG00000136866 ?candidate for Nager syndrome Zfp37 (MGI:99181)
chr9 113150957 113164141 9q31-q32 9q32 603088 SLC13A2, COPT2, CTR2 Solute carrier family 31 (copper transporter), member 2 SLC31A2 1318 ENSG00000136867 Slc31a2 (MGI:1333844)
chr9 113165035 113221360 9q32 9q32 617398 FKBP15, FKBP133, KIAA0674, WAFL FK506-binding protein 15 FKBP15 23307 ENSG00000119321 Fkbp15 (MGI:2444782)
chr9 113221527 113264491 9q31-q32 9q32 603085 SLC31A1, COPT1, CTR1 Solute carrier family 31 (copper transporter), member 1 SLC31A1 1317 ENSG00000136868 Slc31a1 (MGI:1333843)
chr9 113267007 113275588 9q32 9q32 614533 CDC26, APC12 Cell division cycle 26, S. cerevisiae, homolog of CDC26 246184 ENSG00000176386 pseudogene on 7q32.1 Cdc26 (MGI:1913690)
chr9 113275633 113292904 9q31-q33 9q32 607795 PRPF4, PRP4, HPRP4, RP70 Precursor mRNA-processing factor 4, S. cerevisiae, homolog of PRPF4 9128 ENSG00000136875 Retinitis pigmentosa 70, 615922 (3), Autosomal dominant Prpf4 (MGI:1917302)
chr9 113386311 113401337 9q34 9q32 125270 ALAD, ALADH, PBGS Aminolevulinate, delta-, dehydratase ALAD 210 ENSG00000148218 linked to ABO; ORM-ALAD-AK-ABO {Lead poisoning, susceptibility to}, 612740 (3), Autosomal recessive; Porphyria, acute hepatic, 612740 (3), Autosomal recessive Alad (MGI:96853)
chr9 113407234 113410748 9q33 9q32 607267 POLE3, CHARAC17, YBL1 Polymerase, DNA, epsilon-3 POLE3 54107 ENSG00000148229 Pole3 (MGI:1933378)
chr9 113444031 113597742 9q31-q33 9q32 602189 RGS3 Regulator of G-protein signaling-3 RGS3 5998 ENSG00000138835 Rgs3 (MGI:1354734)
chr9 113876281 114056594 9q32 9q32 617077 ZNF618, NEDD10, KIAA1952 Zinc finger protein 618 ZNF618 114991 ENSG00000157657 Zfp618 (MGI:1919950)
chr9 114060126 114078471 9q32-q33 9q32 176870 AMBP, ITIL, ITI, HCP Alpha-1-microglobulin/bikunin precursor (inter-alpha-trypsin inhibitor, light chain; protein HC) AMBP 259 ENSG00000106927 Ambp (MGI:88002)
chr9 114091622 114100089 9q32 9q32 611278 KIF12 Kinesin family member 12 KIF12 113220 ENSG00000136883 Kif12 (MGI:1098232)
chr9 114154270 114312515 9q32 9q32 608461 COL27A1, KIAA1870, STLS Collagen, type XXVII, alpha-1 COL27A1 85301 ENSG00000196739 mutation identified in 1 STLS family ?Steel syndrome, 615155 (3), Autosomal recessive Col27a1 (MGI:2672118)
chr9 114323022 114326478 9q34.1-q34.3 9q32 138600 ORM1, AGP1 Orosomucoid-1 (alpha-1-acid glycoprotein-1) ORM1 5004 ENSG00000229314 linked to ABO, AK1, ALAD
chr9 114329788 114333255 9q34.1-q34.3 9q32 138610 ORM2 Orosomucoid-2 ORM2 5005 ENSG00000228278
chr9 114402077 114505499 9q32-q34 9q32 607928 WHRN, CIP98, KIAA1526, DFNB31, USH2D Whirlin WHRN 25861 ENSG00000095397 Deafness, autosomal recessive 31, 607084 (3), Autosomal recessive; Usher syndrome, type 2D, 611383 (3), Autosomal recessive Whrn (MGI:2682003)
chr9 114587713 114598871 Chr.9 9q32 607296 ATP6V1G1, ATP6G1 ATPase, H+ transporting, lysosomal, 13kD, V1 subunit G, isoform 1 ATP6V1G1 9550 ENSG00000136888 Atp6v1g1 (MGI:1913540)
chr9 114784634 114806127 9q32 9q32 604052 TNFSF15, TL1, VEGI Tumor necrosis factor ligand superfamily, member 15 (vascular endothelial growth inhibitor) TNFSF15 9966 ENSG00000181634 Tnfsf15 (MGI:2180140)
chr9 114893342 114930673 9q33 9q32-q33 603875 TNFSF8, CD30L, CD30LG Tumor necrosis factor ligand superfamily, member 8 (CD30 ligand) TNFSF8 944 ENSG00000106952 Tnfsf8 (MGI:88328)
chr9 114900000 127500000 9q33 613207 ASRT8 Asthma-related traits, susceptibility to, 8 100415896 associated with rs3789873 {Asthma-related traits, susceptibility to, 8}, 613207 (2)
chr9 115019574 115118256 9q33 9q33.1 187380 TNC, HXB, DFNA56 Tenascin C (hexabrachion) TNC 3371 ENSG00000041982 proximal to ABL Deafness, autosomal dominant 56, 615629 (3), Autosomal dominant Tnc (MGI:101922)
chr9 115141817 115402643 9q32 9q33.1 604767 DEC1 Deleted in esophageal cancer 1 DEC1 50514 ENSG00000173077 Esophageal squamous cell carcinoma, 133239 (1), Autosomal dominant
chr9 116153751 116402320 9q33.1 9q33.1 176385 PAPPA Pregnancy-associated plasma protein A PAPPA 5069 ENSG00000182752 Pappa (MGI:97479)
chr9 116398156 116400605 9q33.1 9q33.1 610689 DIPAS DIPLA1, antisense PAPPA-AS1 493913
chr9 116425224 117415038 9q33.1 9q33.1 612856 ASTN2, KIAA0634 Astrotactin 2 ASTN2 23245 ENSG00000148219 Astn2 (MGI:1889277)
chr9 116687301 116701299 9q31-q34.1 9q33.1 602290 TRIM32, HT2A, LGMD2H, BBS11 Tripartite-motif-containing protein 32 TRIM32 22954 ENSG00000119401 mutation identified in 1 BBS11 family ?Bardet-Biedl syndrome 11, 615988 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, type 2H, 254110 (3), Autosomal recessive Trim32 (MGI:1917057)
chr9 117704174 117717490 9q32-q33 9q33.1 603030 TLR4 Toll-like receptor-4 TLR4 7099 ENSG00000136869 Tlr4 (MGI:96824)
chr9 119166629 119369460 9q33.1 9q33.1 602865 BRINP1, DBC1, DBCCR1 Bone morphogenetic protein/retinoic acid-inducible neural-specific protein 1 BRINP1 1620 ENSG00000078725 Brinp1 (MGI:1928478)
chr9 120388868 120580169 9q33.3 9q33.2 608201 CDK5RAP2, KIAA1633, MCPH3 CDK5 regulatory subunit-associated protein 2 CDK5RAP2 55755 ENSG00000136861 Microcephaly 3, primary, autosomal recessive, 604804 (3), Autosomal recessive Cdk5rap2 (MGI:2384875)
chr9 120600917 120714486 9q32-q33.3 9q33.2 604268 MEGF9, EGFL5 Multiple epidermal growth factor-like domains 9 MEGF9 1955 ENSG00000106780 Megf9 (MGI:1918264)
chr9 120756975 120793461 9q34 9q33.2 609071 FBXW2, FBW2, FWD2 F-box and WD40 domain protein 2 FBXW2 26190 ENSG00000119402 Fbxw2 (MGI:1353435)
chr9 120816052 120843020 9q33.2 9q33.2 604452 PSMD5, S5B Proteasome 26S subunit, non-ATPase, 5 PSMD5 5711 ENSG00000095261 Psmd5 (MGI:1914248)
chr9 120855650 120902159 9q33.3 9q33.2 609740 PHF19 PHD finger protein 19 PHF19 26147 ENSG00000119403 Phf19 (MGI:1921266)
chr9 120902392 120929172 9q33-q34 9q33.2 601711 TRAF1 TNF receptor-associated factor 2 TRAF1 7185 ENSG00000056558 Traf1 (MGI:101836)
chr9 120952334 121075173 9q34.1 9q33.2 120900 C5, C5D, ECLZB Complement component-5 C5 727 ENSG00000106804 C5 deficiency, 609536 (3); [Eculizumab, poor response to], 615749 (3), Autosomal dominant Hc (MGI:96031)
chr9 121074772 121177609 9q33 9q33.2 605496 CEP1, CEP110, FAN Centrosomal protein 1 CNTRL 11064 ENSG00000119397 Cntrl (MGI:1889576)
chr9 121178136 121202086 9q33.2 9q33.2 612673 RAB14 Ras-associated protein RAB14 51552 ENSG00000119396 Rab14 (MGI:1915615)
chr9 121201482 121332843 9q34 9q33.2 137350 GSN Gelsolin GSN 2934 ENSG00000148180 40kb proximal to ABL Amyloidosis, Finnish type, 105120 (3), Autosomal dominant Gsn (MGI:95851)
chr9 121338987 121370303 9q34.1 9q33.2 133090 STOM, EPB72, BND7 Stomatin (erythrocyte membrane protein band 7.2) STOM 2040 ENSG00000148175 proximal to ABL Stom (MGI:95403)
chr9 121455040 121500026 9q33-q34 9q33.2 104175 GGTA1P, GGTA1 Glycoprotein, alpha-galactosyltransferase-1 pseudogene GGTA1P 2681 processed pseudogene GGTA1P on 12q14-q15
chr9 121566882 121785529 9q33 9q33.2 609205 DAB2IP, AIP1, KIAA1743 DAB2-interacting protein DAB2IP 153090 ENSG00000136848 Dab2ip (MGI:1916851)
chr9 122132465 122159818 9q33.2-q34.11 9q33.2 603359 NDUFA8 NADH-ubiquinone oxidoreductase 1 beta subcomplex, 8 NDUFA8 4702 ENSG00000119421 Ndufa8 (MGI:1915625)
chr9 122185625 122228892 9q33.2 9q33.2 608215 LHX6 LIM homeobox gene 6 LHX6 26468 ENSG00000106852 Lhx6 (MGI:1306803)
chr9 122264602 122325314 9q32-q34.1 9q33.2 604602 MRFF, RRF Ribosome-recycling factor, mitochondrial MRRF 92399 ENSG00000148187 Mrrf (MGI:1915121)
chr9 122369905 122395702 9q32-q33.3 9q33.2 176805 PTGS1, COX1, PGHS1, COX3, PCOX1 Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) PTGS1 5742 ENSG00000095303 Ptgs1 (MGI:97797)
chr9 122816057 122828655 Chr.9 9q33.2 604421 PDCL Phosducin-like PDCL 5082 ENSG00000136940 Pdcl (MGI:1914716)
chr9 122844564 122905350 9q34 9q33.2 615231 RC3H2, MNAB RING finger and CCCH-type zinc finger domains-containing protein 2 RC3H2 54542 ENSG00000056586 Rc3h2 (MGI:2442789)
chr9 122931639 123104868 9q33.2-q33.3 9q33.2-q33.3 615882 RABGAP1, GAPCENA, TBC1D11 RAB GTPase-activating protein 1 RABGAP1 23637 ENSG00000011454 Rabgap1 (MGI:2385139)
chr9 123033634 123042750 9q33 9q33.2 601909 GPR21 G protein-coupled receptor-21 GPR21 2844 ENSG00000011454 Gpr21 (MGI:2441890)
chr9 123109493 123268575 9q34 9q33.3 611138 STRBP, SPNR, p74 Spermatid perinuclear RNA-binding protein STRBP 55342 ENSG00000165209 Strbp (MGI:104626)
chr9 123354064 123380334 9q33.3 9q33.3 609720 CRB2, FSGS9, VMCKD Crumbs, Drosophila, homolog of CRB2 286204 ENSG00000148204 Focal segmental glomerulosclerosis 9, 616220 (3), Autosomal recessive; Ventriculomegaly with cystic kidney disease, 219730 (3), Autosomal recessive Crb2 (MGI:2679260)
chr9 123379653 123930157 9q33.2 9q33.3 613633 DENND1A, KIAA1608 DENN/MADD domain-containing protein 1A DENND1A 57706 ENSG00000119522 Dennd1a (MGI:2442794)
chr9 124011609 124033162 9q33-q34.1 9q33.3 603759 LHX2, LH2 LIM/homeodomain protein LHX2 LHX2 9355 ENSG00000106689 Lhx2 (MGI:96785)
chr9 124257605 124352441 9q33.3-q34.11 9q33.3 604884 NEK6 Never-in-mitosis gene A-related kinase 6 NEK6 10783 ENSG00000119408 Nek6 (MGI:1891638)
chr9 124353464 124415472 9q34.11-q34.12 9q33.3 604030 PSMB7 Proteasome subunit, beta-type, 7 PSMB7 5695 ENSG00000136930 Psmb7 (MGI:107637)
chr9 124481235 124507419 9q33 9q33.3 184757 NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8, SRXX4 Nuclear receptor subfamily 5, group A, member 1 NR5A1 2516 ENSG00000136931 Adrenocortical insufficiency, 612964 (3), Autosomal dominant; Premature ovarian failure 7, 612964 (3), Autosomal dominant; Spermatogenic failure 8, 613957 (3), Autosomal dominant; 46, XX sex reversal 4, 617480 (3), Autosomal dominant; 46XY sex reversal 3, 612965 (3), Autosomal dominant Nr5a1 (MGI:1346833)
chr9 124517274 124771309 9q33-q34.1 9q33.3 602778 GCNF Germ cell nuclear factor NR6A1 2649 ENSG00000148200 Nr6a1 (MGI:1352459)
chr9 124692441 124692550 9q33.3 9q33.3 612743 MIR181A2, MIRN181A2 Micro RNA 181A2 MIR181A2 406954
chr9 124693709 124693797 9q33.3 9q33.3 612745 MIR181B2, MIRN181B2 Micro RNA 181B2 MIR181B2 406956
chr9 124777157 124814890 9q33.3 9q33.3 615899 OLFML2A Olfactomedin-like 2A OLFML2A 169611 ENSG00000185585 Olfml2a (MGI:2444741)
chr9 124878293 124941406 9q33.3 9q33.3 602502 GOLGA1 Golgi autoantigen, golgin subfamily A, 1 GOLGA1 2800 ENSG00000136935 Golga1 (MGI:1924149)
chr9 125146572 125189938 9q33.3 9q33.3 612725 PPP6C Protein phosphatase 6, catalytic subunit PPP6C 5537 ENSG00000119414 highly related sequence on Xq22.3 Ppp6c (MGI:1915107)
chr9 125234847 125241386 9q34 9q33.3 138120 HSPA5, GRP78 Heat-shock 70kD protein-5 (glucose-regulated protein, 78kD) HSPA5 3309 ENSG00000044574 Hspa5 (MGI:95835)
chr9 125261793 125367206 9q33.3 9q33.3 611714 GAPVD1, RAP6, GAPEX5, KIAA1521 GTPase-activating protein and VPS9 domains 1 GAPVD1 26130 ENSG00000165219 Gapvd1 (MGI:1913941)
chr9 125437393 125707233 9q33.3 9q33.3 610558 MAPKAP1, SIN1, MIP1, JC310 Mitogen-activated protein kinase-associated protein 1 MAPKAP1 79109 ENSG00000119487 Mapkap1 (MGI:2444554)
chr9 125747337 125967376 9q33-q34 9q33.3 176312 PBX3 Pre-B-cell leukemia transcription factor-3 PBX3 5090 ENSG00000167081 Pbx3 (MGI:97496)
chr9 126614442 126701031 9q34.1 9q33.3 602575 LMX1B, NPS1 LIM homeo box transcription factor 1, beta LMX1B 4010 ENSG00000136944 Nail-patella syndrome, 161200 (3), Autosomal dominant Lmx1b (MGI:1100513)
chr9 126860664 126885877 9q33.3 9q33.3 611692 ZBTB34, KIAA1993 Zinc finger- and BTB domain-containing protein 34 ZBTB34 403341 ENSG00000177125 Zbtb34 (MGI:2685195)
chr9 126914773 127223165 9q33.3 9q33.3 614444 RALGPS1, RALGEF2, KIAA0351 Ral guanine nucleotide exchange factor with PH domain and SH3 domain-binding motif 1 RALGPS1 9649 ENSG00000136828 Ralgps1 (MGI:1922008)
chr9 127087348 127122764 9q33.3 9q33.3 605001 ANGPTL2, ARP2 Angiopoietin-like 2 ANGPTL2 23452 ENSG00000136859 Angptl2 (MGI:1347002)
chr9 127397137 127407897 Chr.9 9q33.3 605245 SLC2A8, GLUT8 Solute carrier family 2, (facilitated glucose transporter) member 8 SLC2A8 29988 ENSG00000136856 Slc2a8 (MGI:1860103)
chr9 127424373 127446288 9q34 9q33.3 194552 ZNF79 Zinc finger protein-79 (pT7) ZNF79 7633 ENSG00000196152
chr9 127447673 127451431 9q33.3 9q33.3 180475 RPL12 Ribosomal protein L12 RPL12 6136 ENSG00000197958 Rpl12 (MGI:98002)
chr9 127451485 127503500 9q33.3-q34.11 9q33.3-q34.1 610933 LRSAM1, TAL, RIFLE, CMT2P Leucine-rich repeat- and sterile alpha motif-containing 1 LRSAM1 90678 ENSG00000148356 Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3), Autosomal recessive, Autosomal dominant Lrsam1 (MGI:2684789)
chr9 127500000 133100000 9q34.1 612557 CLLS3 Leukemia, chronic lymphocytic, susceptibility to, 3 100270642 associated with SNP -6531 upstream of DAPK1 promoter {Leukemia, chronic lymphocytic, susceptibility to, 3}, 612557 (2)
chr9 127500000 138394717 9q34 614623 KTCN6 Keratoconus 6 100885802 max lod at 159cM Keratoconus 6, 614623 (2), Autosomal dominant
chr9 127505337 127579006 9q34.13 9q34.11 614045 FAM129B, MINERVA Family with sequence similarity 129, member B FAM129B 64855 ENSG00000136830 Fam129b (MGI:2442910)
chr9 127612206 127692715 9q34.1 9q34.11 602926 STXBP1, UNC18, EIEE4 Syntaxin-binding protein 1 STXBP1 6812 ENSG00000136854 Epileptic encephalopathy, early infantile, 4, 612164 (3), Autosomal dominant Stxbp1 (MGI:107363)
chr9 127731523 127735348 9q34.11 9q34.11 608052 TOR2A, TORP1 Torsin 2A TOR2A 27433 ENSG00000160404 Tor2a (MGI:1353596)
chr9 127738316 127778768 9q34.11 9q34.11 604722 SH2D3C, NSP3 SH2 domain-containing protein 3C SH2D3C 10044 ENSG00000095370 Sh2d3c (MGI:1351631)
chr9 127785537 127790781 9q34.1 9q34.11 603251 CDK9, CDC2L4 Cyclin-dependent kinase-9 CDK9 1025 ENSG00000136807 Cdk9 (MGI:1328368)
chr9 127785917 127786006 9q34.11 9q34.11 613405 MIR2861, MIRN2861, BMND15 Micro RNA 2861 MIR2861 100422910 [Bone mineral density QTL 15], 613418 (3), Autosomal recessive, Autosomal dominant
chr9 127802857 127814519 9cen-q34 9q34.11 136510 FPGS Folylpolyglutamate synthetase FPGS 2356 ENSG00000136877 Fpgs (MGI:95576)
chr9 127815011 127854772 9q34.1 9q34.11 131195 ENG, END, HHT1, ORW Endoglin ENG 2022 ENSG00000106991 Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3), Autosomal dominant Eng (MGI:95392)
chr9 127866479 127885541 9q34.1 9q34.11 103000 AK1 Adenylate kinase-1 AK1 203 ENSG00000106992 proximal to Ph1 break, 9q34.1; AK1 to ORM = 17cM Hemolytic anemia due to adenylate kinase deficiency, 612631 (3), Autosomal recessive Ak1 (MGI:87977)
chr9 127885320 127906763 9q34.11 9q34.11 610135 ST6GALNAC6, SIAT7F ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ST6GALNAC6 30815 ENSG00000160408 St6galnac6 (MGI:1355316)
chr9 127907885 127917051 9q31 9q34.11 606378 SIAT7D, SIAT3C Sialyltransferase 7D ST6GALNAC4 27090 ENSG00000136840 St6galnac4 (MGI:1341894)
chr9 127920885 127931957 9q34.11 9q34.11 612865 PIP5KL1, PIPKH Phosphatidylinositol-4-phosphate-5-kinase-like 1 PIP5KL1 138429 ENSG00000167103 Pip5kl1 (MGI:2448520)
chr9 127935094 127938483 9q34.11 9q34.11 603564 DPM2, CDG1U Dolichyl-phosphate mannosyltransferase 2, regulatory subunit DPM2 8818 ENSG00000136908 Congenital disorder of glycosylation, type Iu, 615042 (3), Autosomal recessive Dpm2 (MGI:1330238)
chr9 127940581 127980532 9q34.13 9q34.11 610891 FAM102A, EEIG1 Family with sequence similarity 102, member A FAM102A 399665 ENSG00000167106 Fam102a (MGI:2138935)
chr9 128061232 128067866 9q34.11 9q34.11 610673 C9orf90, NAIF1 Nuclear apoptosis-inducing factor 1 NAIF1 203245 ENSG00000171169 Naif1 (MGI:1918504)
chr9 128120692 128128461 9q34.13 9q34.11 608152 PTGES2, PGES2, GBF1 Prostaglandin E synthase 2 PTGES2 80142 ENSG00000148334 Ptges2 (MGI:1917592)
chr9 128149429 128153454 9q34 9q34.11 600181 LCN2, NGAL Lipocalin 2 (oncogene 24p3) LCN2 3934 ENSG00000148346 Lcn2 (MGI:96757)
chr9 128166064 128204382 9q34 9q34.11 611420 CIZ1, ZNF356, LSFR1, NP94 CDKN1A-interacting zinc finger protein 1 CIZ1 25792 ENSG00000148337 Ciz1 (MGI:1920234)
chr9 128203354 128255247 9q34 9q34.11 602377 DNM1, EIEE31 Dynamin-1 DNM1 1759 ENSG00000106976 Epileptic encephalopathy, early infantile, 31, 616346 (3), Autosomal dominant Dnm1 (MGI:107384)
chr9 128244720 128244829 9q34.11 9q34.11 614791 MIR199B Micro RNA 199B MIR199B 406978
chr9 128255828 128276006 9q34.11 9q34.11 602580 GOLGA2, GM130 Golgi autoantigen, golgin subfamily A, 2 GOLGA2 2801 ENSG00000167110 Golga2 (MGI:2139395)
chr9 128275363 128288989 9q34.11 9q34.11 616528 SWI5, SAE3, C9orf119 SWi5 homologous recombination repair protein SWI5 375757 ENSG00000175854 Swi5 (MGI:1920181)
chr9 128309099 128322779 9q34.11 9q34.11 610727 TRUB2 TRUB pseudouridine synthase, E. coli, homolog of, 2 TRUB2 26995 ENSG00000167112 Trub2 (MGI:2442186)
chr9 128322485 128334071 9q34.13 9q34.11 612898 COQ4, COQ10D7 Coenzyme Q4, S. cerevisiae, homolog of COQ4 51117 ENSG00000167113 Coenzyme Q10 deficiency, primary, 7, 616276 (3), Autosomal recessive Coq4 (MGI:1098826)
chr9 128340515 128361469 9q34 9q34.11 604194 SLC27A4, FATP4, IPS Solute carrier family 27 (fatty acid transporter), member 4 SLC27A4 10999 ENSG00000167114 Ichthyosis prematurity syndrome, 608649 (3) Slc27a4 (MGI:1347347)
chr9 128371318 128392015 9q34.11 9q34.11 612693 URM1 Ubiquitin-related modifier 1, S. cerevisiae, homolog of URM1 81605 ENSG00000167118 Urm1 (MGI:1915455)
chr9 128405993 128437350 9q34.11 9q34.11 616626 CERCAM Cerebral endothelial cell adhesion molecule CERCAM 51148 ENSG00000167123 Cercam (MGI:2139134)
chr9 128455154 128501291 9q34 9q34.11 602015 ODF2, ODF84 Outer dense fiber of sperm tails 2 ODF2 4957 ENSG00000136811 Odf2 (MGI:1098824)
chr9 128504691 128542300 9q34 9q34.11 603371 GLE1, GLE1L, LCCS, LCCS1 Gle1, RNA export mediator, S. cerevisiae, homolog of GLE1 2733 ENSG00000119392 Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3); Lethal congenital contracture syndrome 1, 253310 (3), Autosomal recessive Gle1 (MGI:1921662)
chr9 128552557 128633664 9q33-q34 9q34.11 182810 SPTAN1, NEAS, EIEE5 Spectrin, alpha, nonerythrocytic-1 (alpha-fodrin) SPTAN1 6709 ENSG00000197694 Epileptic encephalopathy, early infantile, 5, 613477 (3), Autosomal dominant Sptan1 (MGI:98386)
chr9 128633652 128656849 9q34.11 9q34.11 613363 WDR34, SRTD11 WD repeat-containing protein 34 WDR34 89891 ENSG00000119333 Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3), Autosomal recessive Wdr34 (MGI:1919070)
chr9 128683431 128696395 9q34 9q34.11 600960 SET SET gene SET 6418 ENSG00000119335 fused with CAIN in acute undifferentiated leukemia Set (MGI:1860267)
chr9 128702496 128720919 9q34.11 9q34.11 610714 PKN3 Protein kinase N3 PKN3 29941 ENSG00000160447 Pkn3 (MGI:2388285)
chr9 128729785 128772506 9q34.11 9q34.11 617764 ZER1, ZYG11BL, C9orf60 Zyg11-related cell cycle regulator ZER1 10444 ENSG00000160445 Zer1 (MGI:2442511)
chr9 128787206 128810431 9q34.11 9q34.11 616218 TBC1D13 TBC1 domain family, member 13 TBC1D13 54662 ENSG00000107021 Tbc1d13 (MGI:2385326)
chr9 128818401 128822675 9q34.1 9q34.11 600440 ENDOG Endonuclease G ENDOG 2021 ENSG00000167136 Endog (MGI:1261433)
chr9 128819650 128833308 9q34.11 9q34.11 617614 SPOUT1, CENP32, C9orf114 SPOUT domain-containing methyltransferase 1 SPOUT1 51490 ENSG00000198917 Spout1 (MGI:106544)
chr9 128833112 128882557 9q34.11 9q34.11 600547 CCBL1 Cysteine conjugate beta-lyase 1 KYAT1 883 ENSG00000171097 Kyat1 (MGI:1917516)
chr9 128882111 128918041 9q34.13 9q34.11 608360 LRRC8A, KIAA1437, AGM5 Leucine-rich repeat-containing 8A LRRC8A 56262 ENSG00000136802 mutation identified in 1 AGM5 patient ?Agammaglobulinemia 5, 613506 (3), Autosomal dominant Lrrc8a (MGI:2652847)
chr9 128945529 128947732 9q34.11 9q34.11 610746 DOLK, TMEM15, DK1, SEC59, KIAA1094, CDG1M Dolichol kinase DOLK 22845 ENSG00000175283 Congenital disorder of glycosylation, type Im, 610768 (3), Autosomal recessive Dolk (MGI:2677836)
chr9 128947692 129007095 9q34.11 9q34.11 615587 NUP188, KIAA1069 Nucleoporin, 188kD NUP188 23511 ENSG00000095319 Nup188 (MGI:2446190)
chr9 129080987 129090437 9q34.1 9q34.11 614516 DOLPP1, LSFR2 Dolichyl pyrophosphate phosphatase 1 DOLPP1 57171 ENSG00000167130 Dolpp1 (MGI:1914093)
chr9 129094793 129110797 9q34.1 9q34.11 600184 CRAT, CAT1, NBIA8 Carnitine acetyltransferase CRAT 1384 ENSG00000095321 mutation identified in 1 NBIA8 patient ?Neurodegeneration with brain iron accumulation 8, 617917 (3), Autosomal recessive Crat (MGI:109501)
chr9 129110948 129148945 9q34 9q34.11 600756 PPP2R4, PTPA Protein phosphatase-2A, regulatory subunit B' (PR 53) PTPA 5524 ENSG00000119383 proximal to ABL Ptpa (MGI:1346006)
chr9 129608883 129636741 9q34.11 9q34.11 613560 NTMT1, METTL11A, NRMT, C9orf32 N-terminal X-Pro-Lys N-methyltransferase 1 NTMT1 28989 ENSG00000148335 Ntmt1 (MGI:1913867)
chr9 129634603 129642168 9q34.11 9q34.11 615051 ASB6 Ankyrin repeat- and SOCS box-containing protein 6 ASB6 140459 ENSG00000148331 Asb6 (MGI:1919573)
chr9 129665640 129722673 9q34.1 9q34.11 604675 PRRX2, PRX2 Paired-related homeo box gene 2 PRRX2 51450 ENSG00000167157 Prrx2 (MGI:98218)
chr9 129738335 129777578 9q34.3 9q34.11 605172 PTGES, PGES, PIG12, MGST1L1 Prostaglandin E synthase PTGES 9536 ENSG00000148344 Ptges (MGI:1927593)
chr9 129803142 129811423 9q34 9q34.11 608050 TOR1B, DQ1 Torsin 1B TOR1B 27348 ENSG00000136816 centromeric to TOR1A; pseudogene on chr.2 Tor1b (MGI:1353605)
chr9 129812941 129824161 9q34 9q34.11 605204 DYT1, TOR1A Torsin A TOR1A 1861 ENSG00000136827 {Dystonia-1, modifier of} (3); Dystonia-1, torsion, 128100 (3), Autosomal dominant Tor1a (MGI:1353568)
chr9 129835416 129881837 9q34.11 9q34.11 615143 USP20, VDU2 Ubiquitin-specific protease 20 USP20 10868 ENSG00000136878 Usp20 (MGI:1921520)
chr9 129887186 130053845 9q34 9q34.11 606191 FNBP1, FBP17 Formin-binding protein 17 FNBP1 23048 ENSG00000187239 fused with MLL in chronic myeloid leukemia Fnbp1 (MGI:109606)
chr9 130172577 130237303 9q34 9q34.11 603315 FREQ, NCS1 Frequenin, Drosophila, homolog of NCS1 23413 ENSG00000107130 Ncs1 (MGI:109166)
chr9 130444706 130501273 9q34.1 9q34.11 603470 ASS1, ASS Argininosuccinate synthetase 1 ASS1 445 ENSG00000130707 14 pseudogenes on 11 chromosomes, including X and Y and ASSP2 on 6p23-q12 Citrullinemia, 215700 (3), Autosomal recessive Ass1 (MGI:88090)
chr9 130579572 130638351 9q34.11-q34.12 9q34.11-q34.12 603536 FUBP3, FBP3 FAR upstream element-binding protein 3 FUBP3 8939 ENSG00000107164 Fubp3 (MGI:2443699)
chr9 130664593 130682996 9q34.1 9q34.12 616458 PRDM12, HSAN8 PR domain-containing protein 12 PRDM12 59335 ENSG00000130711 Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive Prdm12 (MGI:2685844)
chr9 130693759 130704893 9q34.12 9q34.12 602238 EXOSC2, RRP4, SHRF Exosome component 2 EXOSC2 23404 ENSG00000130713 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763 (3), Autosomal recessive Exosc2 (MGI:2385133)
chr9 130713880 130887674 9q34.1 9q34.12 189980 ABL1, CHDSKM Abelson murine leukemia viral (v-abl) oncogene homolog 1 ABL1 25 ENSG00000097007 fusion hybrid gene with BCR1 in CML Congenital heart defects and skeletal malformations syndrome, 617602 (3), Autosomal dominant; Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3) Abl1 (MGI:87859)
chr9 130893427 130896811 9q34.12 9q34.12 609795 QRFP, P518, 26RFA Pyroglutamylated FR-amide peptide precursor protein QRFP 347148 ENSG00000188710 Qrfp (MGI:3630329)
chr9 130902437 130939067 9q34.1 9q34.12 613357 FIBCD1 Fibrinogene C domain-containing protein 1 FIBCD1 84929 ENSG00000130720 Fibcd1 (MGI:2138953)
chr9 131009116 131093058 9q33-q34 9q34.12 604349 LAMC3, OCCM Laminin, gamma-3 LAMC3 10319 ENSG00000050555 Cortical malformations, occipital, 614115 (3), Autosomal recessive Lamc3 (MGI:1344394)
chr9 131100000 133100000 9q34.13 171720 ALPQTL1 Alkaline phosphatase, plasma level of, QTL 1 100196909 linkage with rs657152 {Alkaline phosphatase, plasma level of, QTL1}, 171720 (2), ?Autosomal dominant
chr9 131125560 131234669 9q34.1 9q34.13 114350 NUP214, D9S46E, CAN, CAIN Nucleoporin, 214kD NUP214 8021 ENSG00000126883 fused with DEK in AML; fused with ABL1 in T-ALL Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3); Leukemia, acute myeloid, somatic, 601626 (3) Nup214 (MGI:1095411)
chr9 131502901 131523805 9q34.1 9q34.13 607423 POMT1, MDDGA1, MDDGB1, MDDGC1 Protein O-mannosyltransferase 1 POMT1 10585 ENSG00000130714 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3), Autosomal recessive Pomt1 (MGI:2138994)
chr9 131523795 131531274 9q34.2 9q34.13 609328 UCK1 Uridine/cytidine kinase 1 UCK1 83549 ENSG00000130717 Uck1 (MGI:98904)
chr9 131576769 131740067 9q34.3 9q34.13 600303 RAPGEF1, GRF2, C3G RAP guanine nucleotide exchange factor 1 RAPGEF1 2889 ENSG00000107263 Rapgef1 (MGI:104580)
chr9 131860109 132079886 9q34 9q34.13 605044 MED27, CRSP8, CRAP34 Mediator complex subunit 27 MED27 9442 ENSG00000160563 Med27 (MGI:1916225)
chr9 132261355 132356725 9q34 9q34.13 608465 SETX, SCAR1, AOA2, ALS4 Senataxin SETX 23064 ENSG00000107290 Amyotrophic lateral sclerosis 4, juvenile, 602433 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 1, 606002 (3), Autosomal recessive Setx (MGI:2443480)
chr9 132375547 132406850 9q34.13 9q34.13 600777 TTF1 Transcription termination factor, RNA polymerase I TTF1 7270 ENSG00000125482
chr9 132582605 132590252 9q34 9q34.13 605211 BARHL1 BARH-like 1 BARHL1 56751 ENSG00000125492 Barhl1 (MGI:1859288)
chr9 132592996 132670400 9q34.13 9q34.13 616533 DDX31, PPP1R25 DEAD box polypeptide 31 DDX31 64794 ENSG00000125485 Ddx31 (MGI:2682639)
chr9 132725573 132878810 9q34.13 9q34.13 615365 AK8 Adenylate kinase 8 AK8 158067 ENSG00000165695 Ak8 (MGI:1916120)
chr9 132891347 132945268 9q34 9q34.13 605284 TSC1, LAM Hamartin (tuberous sclerosis 1 gene) TSC1 7248 ENSG00000165699 linked to ABO, ABL Focal cortical dysplasia, type II, somatic, 607341 (3); Lymphangioleiomyomatosis, 606690 (3); Tuberous sclerosis-1, 191100 (3), Autosomal dominant Tsc1 (MGI:1929183)
chr9 132945544 132991696 9q34.13 9q34.13 604383 GFI1B, BDPLT17 Growth factor-independent 1B GFI1B 8328 ENSG00000165702 Bleeding disorder, platelet-type, 17, 187900 (3), Autosomal recessive, Autosomal dominant Gfi1b (MGI:1276578)
chr9 133030674 133058502 9q34.2 9q34.13 604890 GTF3C5, TFIIIC63 General transcription factor 3C, polypeptide 5 GTF3C5 9328 ENSG00000148308 Gtf3c5 (MGI:1917489)
chr9 133061977 133071862 9q34.3 9q34.13 114840 CEL, BSSL, CELL, MODY8 Carboxyl-ester lipase (bile-salt stimulated lipase) CEL 1056 ENSG00000170835 Maturity-onset diabetes of the young, type VIII, 609812 (3), Autosomal dominant Cel (MGI:88374)
chr9 133097719 133149219 9q34 9q34.1-q34.2 601619 RALGDS ral guanine nucleotide dissociation stimulator RALGDS 5900 ENSG00000160271 Ralgds (MGI:107485)
chr9 133152947 133163944 9q34 9q34.2 606074 GBGT1, FS Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (Forssman synthetase) GBGT1 26301 ENSG00000148288 Gbgt1 (MGI:2449143)
chr9 133205278 133223254 9q34 9q34.2 604606 OBP2B Odorant-binding protein 2B OBP2B 29989 ENSG00000171102 Obp2a (MGI:2387617)
chr9 133255175 133275213 9q34 9q34.2 110300 ABO ABO glycosyltransferase ABO 28 ENSG00000175164 linked to AK1 [Blood group, ABO system], 616093 (3) Abo (MGI:2135738)
chr9 133330706 133336209 9q34 9q34.2 185642 SURF6 Surfeit-6 SURF6 6838 ENSG00000148296 Surf6 (MGI:98447)
chr9 133340900 133348155 9q34 9q34.2 185641 SURF5 Surfeit-5 MED22 6837 ENSG00000148297 Med22 (MGI:98446)
chr9 133348213 133351424 9q34 9q34.2 185640 RPL7A, SURF3 Ribosomal protein L7a (surfeit-3) RPL7A 6130 ENSG00000148303 in cluster with SURF1 Rpl7a (MGI:1353472)
chr9 133351804 133356484 9q34 9q34.2 185620 SURF1, CMT4K Surfeit-1 SURF1 6834 ENSG00000148290 distal to ABL, CAN Charcot-Marie-Tooth disease, type 4K, 616684 (3), Autosomal recessive; Leigh syndrome, due to COX IV deficiency, 256000 (3), Autosomal recessive, Mitochondrial Surf1 (MGI:98443)
chr9 133356544 133361164 9q34 9q34.2 185630 SURF2 Surfeit-2 SURF2 6835 ENSG00000148291 Surf2 (MGI:98444)
chr9 133361448 133377948 9q34 9q34.2 185660 SURF4 Surfeit-4 SURF4 6836 ENSG00000148248 Surf4 (MGI:98445)
chr9 133406057 133418171 9q34 9q34.2 602930 REXO4, XPMC2H RNA exonuclease 4, S. cerevisiae, homolog of REXO4 57109 ENSG00000148300 Rexo4 (MGI:2684957)
chr9 133414338 133459402 9q34 9q34.2 604134 ADAMTS13, VWFCP, TTP A disintegrin-like and metalloprotease with thrombospondin type 1 motif, 13 ADAMTS13 11093 ENSG00000160323 Thrombotic thrombocytopenic purpura, familial, 274150 (3), Autosomal recessive Adamts13 (MGI:2685556)
chr9 133459964 133470786 9q34.2 9q34.2 613104 C9orf7, FLOWER Flower, Drosophila, homolog of CACFD1 11094 ENSG00000160325 Cacfd1 (MGI:1924317)
chr9 133471093 133479153 9q34 9q34.2 606813 SLC2A6 Solute carrier family 2, member 6 SLC2A6 11182 ENSG00000160326 Slc2a6 (MGI:2443286)
chr9 133514585 133524945 9q34.2 9q34.2 615345 MYMK, TMEM8C Myomaker MYMK 389827 ENSG00000187616 Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive Mymk (MGI:1913389)
chr9 133532163 133575518 9q34.2 9q34.2 612277 ADAMTSL2, KIAA0605, GPHYSD1 ADAMTS-like protein 2 ADAMTSL2 9719 ENSG00000197859 Geleophysic dysplasia 1, 231050 (3), Autosomal recessive Adamtsl2 (MGI:1925044)
chr9 133636362 133659343 9q34 9q34.2 609312 DBH Dopamine-beta-hydroxylase DBH 1621 ENSG00000123454 tightly linked to ABO Dopamine beta-hydroxylase deficiency, 223360 (3), Autosomal recessive; [Dopamine-beta-hydroxylase activity levels, plasma] (3) Dbh (MGI:94864)
chr9 133663073 133739957 9q34.2 9q34.2 604455 SARDH, SARD, SAR Sarcosine dehydrogenase SARDH 1757 ENSG00000123453 [Sarcosinemia], 268900 (3), Autosomal recessive Sardh (MGI:2183102)
chr9 133761893 133992373 9q34 9q34.2 600428 VAV2 Oncogene VAV2 VAV2 7410 ENSG00000160293 Vav2 (MGI:102718)
chr9 134030304 134068532 9q34 9q34.2 601541 RING3L, ORFX RING3-like gene (open reading frame X) BRD3 8019 ENSG00000169925 Brd3 (MGI:1914632)
chr9 134164439 134164563 9q34.2 9q34.2 601429 RNU6ATAC, U6ATAC RNA, U6ATAC small nuclear RNU6ATAC 100151684
chr9 134326462 134440585 9q34.3 9q34.2 180245 RXRA Retinoid X receptor, alpha RXRA 6256 ENSG00000186350 distal to DBH Rxra (MGI:98214)
chr9 134641788 134844842 9q34.2-q34.3 9q34.3 120215 COL5A1, EDSCL1 Collagen V, alpha-1 polypeptide COL5A1 1289 ENSG00000130635 Ehlers-Danlos syndrome, classic type, 1, 130000 (3), Autosomal dominant Col5a1 (MGI:88457)
chr9 134864061 134890505 9q34 9q34.3 601624 FCN2 Ficolin (collagen/fibrinogen domain-containing lectin) 2 FCN2 2220 ENSG00000160339
chr9 134903235 134918002 9q34 9q34.3 601252 FCN1 Ficolin (collagen/fibrinogen domain-containing) 1 FCN1 2219 ENSG00000085265 Fcnb (MGI:1341158)
chr9 135075242 135121183 Chr.9 9q34.3 605366 OLFM1, AMY Olfactomedin 1 OLFM1 10439 ENSG00000130558 Olfm1 (MGI:1860437)
chr9 135477649 135488893 9q34.3 9q34.3 614056 PPP1R26, KIAA0649 Protein phosphatase 1, regulatory subunit 26 PPP1R26 9858 ENSG00000196422 Ppp1r26 (MGI:2685193)
chr9 135495179 135499914 9q34.3 9q34.3 614502 C9orf116, PIERCE1 p53-induced expression in RB-null cells 1 C9orf116 138162 ENSG00000160345 1700007K13Rik (MGI:1916577)
chr9 135499988 135504672 9q34 9q34.3 611971 MRPS2 Mitochondrial ribosomal protein S2 MRPS2 51116 ENSG00000122140 Mrps2 (MGI:2153089)
chr9 135521295 135526539 9q34 9q34.3 151675 LCN1 Lipocalin 1 (protein migrating faster than albumin, tear prealbumin) LCN1 3933 ENSG00000160349
chr9 135544811 135549968 9q34 9q34.3 164320 OBP2A Odorant-binding protein 2A OBP2A 29991 ENSG00000122136 Obp2b (MGI:3651927)
chr9 135561626 135566775 9q34 9q34.3 173310 PAEP, PP14 Progestagen-associated endometrial protein (placental protein 14) PAEP 5047 ENSG00000122133
chr9 135623655 135641223 9q34.3 9q34.3 613699 GLT6D1, GT6M7, GLTDC1 Glycosyltransferase 6 domain-containing 1 GLT6D1 360203 ENSG00000204007 Glt6d1 (MGI:1918353)
chr9 135663321 135670730 9q34 9q34.3 612903 LCN9 Lipocalin 9 LCN9 392399 ENSG00000148386 Lcn9 (MGI:1924954)
chr9 135691861 135702111 9q34.3 9q34.3 610224 SOHLH1, NOHLH, TEB2, ODG5 Spermatogenesis- and oogenesis-specific basic helix-look-helix protein 1 SOHLH1 402381 ENSG00000165643 Ovarian dysgenesis 5, 617690 (3), Autosomal recessive Sohlh1 (MGI:2684956)
chr9 135702184 135793146 9q34.3 9q34.3 608167 KCNT1, KIAA1422, EIEE14, ENFL5 Potassium channel, subfamily T, member 1 KCNT1 57582 ENSG00000107147 Epilepsy, nocturnal frontal lobe, 5, 615005 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 14, 614959 (3), Autosomal dominant Kcnt1 (MGI:1924627)
chr9 135808486 135907550 9q34.3 9q34.3 613774 CAMSAP1 Calmodulin-regulated spectrin-associated protein 1 CAMSAP1 157922 ENSG00000130559 Camsap1 (MGI:3036242)
chr9 135932968 135961379 9q34.3 9q34.3 608129 UBAC1, GBDR1 Ubiquitin-associated domain-containing protein 1 UBAC1 10422 ENSG00000130560 Ubac1 (MGI:1920995)
chr9 136006536 136095284 9q34.3 9q34.3 615786 NACC2, RBB NACC family, member 2, BEN and BTB/POZ domains-containing NACC2 138151 ENSG00000148411 Nacc2 (MGI:1915241)
chr9 136196249 136205128 9q34.3 9q34.3 600577 LHX3, CPHD3 LIM/homeodomain protein LHX3 LHX3 8022 ENSG00000107187 in mouse, close to Notch1; centromeric to ABL Pituitary hormone deficiency, combined, 3, 221750 (3), Autosomal recessive Lhx3 (MGI:102673)
chr9 136206332 136245840 9q34.3 9q34.3 612860 QSOX2, SOXN Quiescin Q6 sulfhydryl oxidase 2 QSOX2 169714 ENSG00000165661 Qsox2 (MGI:2387194)
chr9 136363955 136373680 9q34.3 9q34.3 607212 CARD9, CANDF2 Caspase recruitment domain-containing protein 9 CARD9 64170 ENSG00000187796 Candidiasis, familial, 2, autosomal recessive, 212050 (3), Autosomal recessive Card9 (MGI:2685628)
chr9 136375568 136400219 9q34.3 9q34.3 602777 SNAPC4, SNAP190 Small nuclear RNA-activating protein complex, polypeptide 4 SNAPC4 6621 ENSG00000165684 Snapc4 (MGI:2443935)
chr9 136410572 136423760 9q34.3 9q34.3 613036 PMPCA, KIAA0123, SCAR2 Peptidase, mitochondrial processing, alpha PMPCA 23203 ENSG00000165688 Spinocerebellar ataxia, autosomal recessive 2, 213200 (3), Autosomal recessive Pmpca (MGI:1918568)
chr9 136428614 136439860 9q34.3 9q34.3 613037 INPP5E, MORMS, JBTS1, CORS1 Inositol polyphosphate-5-phosphatase, 72kD INPP5E 56623 ENSG00000148384 Joubert syndrome 1, 213300 (3), Autosomal recessive; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3), Autosomal recessive Inpp5e (MGI:1927753)
chr9 136440095 136484551 9q34.3 9q34.3 612854 SEC16A, SEC16L, KIAA0310, p250 Sec16, S. Cerevisiae, homolog of, A SEC16A 9919 ENSG00000148396 Sec16a (MGI:2139207)
chr9 136494432 136545785 9q34.3 9q34.3 190198 NOTCH1, TAN1, AOS5, AOVD1 Notch, Drosophila, homolog of, 1, translocation-associated NOTCH1 4851 ENSG00000148400 Adams-Oliver syndrome 5, 616028 (3), Autosomal dominant; Aortic valve disease 1, 109730 (3), Autosomal dominant Notch1 (MGI:97363)
chr9 136654752 136672677 9q34.3 9q34.3 608582 EGFL7 Epidermal growth factor-like 7 EGFL7 51162 ENSG00000172889 Egfl7 (MGI:2449923)
chr9 136670601 136670685 9q34.3 9q34.3 611767 MIR126, MIRN126 Micro RNA 126 MIR126 406913
chr9 136673142 136687458 9q34.3 9q34.3 603100 AGPAT2, LPAAB, BSCL, BSCL1 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase-beta) AGPAT2 10555 ENSG00000169692 Lipodystrophy, congenital generalized, type 1, 608594 (3), Autosomal recessive Agpat2 (MGI:1914762)
chr9 136712571 136724717 9q34.3 9q34.3 614543 FAM69B Family with sequence similarity 69, member B FAM69B 138311 ENSG00000165716 Fam69b (MGI:1927576)
chr9 136738166 136742958 9q34 9q34.3 612904 LCN10 Lipocalin 10 LCN10 414332 ENSG00000187922 Lcn10 (MGI:1925000)
chr9 136744016 136748527 9q34 9q34.3 609379 LCN6 Lipocalin 6 LCN6 158062 ENSG00000267206 Lcn6 (MGI:3045364)
chr9 136754387 136758550 9q34 9q34.3 612902 LCN8 Lipocalin 8 LCN8 138307 ENSG00000204001 Lcn8 (MGI:2135945)
chr9 136796337 136807740 9q34.3 9q34.3 615955 CCDC183, KIAA1984 Coiled-coil domain-containing protein 183 CCDC183 84960 ENSG00000213213 Ccdc183 (MGI:1924308)
chr9 136807921 136841186 9q34.3 9q34.3 610615 RABL6, PARF, C9orf86 RAB-like protein 6 RABL6 55684 ENSG00000196642 Rabl6 (MGI:2442633)
chr9 136848815 136851042 9q34.3 9q34.3 610167 PHPT1 Phosphohistidine phosphatase 1 PHPT1 29085 ENSG00000054148 Phpt1 (MGI:1922704)
chr9 136852366 136860798 9q34.3 9q34.3 617208 MAMDC4 MAM domain-containing protein 4 MAMDC4 158056 ENSG00000177943 Mamdc4 (MGI:2685841)
chr9 136881932 136926614 9q34.3 9q34.3 601895 TRAF2, TRAP TNF receptor-associated factor 2 TRAF2 7186 ENSG00000127191 Traf2 (MGI:101835)
chr9 136940432 136944773 9q34.3 9q34.3 609072 FBXW5, FBW5 F-box and WD40 domain protein 5 FBXW5 54461 ENSG00000159069 Fbxw5 (MGI:1354731)
chr9 136944869 136946980 9q34.3 9q34.3 120930 C8G Complement component-8, gamma polypeptide C8G 733 ENSG00000176919 C8g (MGI:88237)
chr9 136949179 136955504 9q34 9q34.3 612905 LCN12 Lipocalin 12 LCN12 286256 ENSG00000184925 Lcn12 (MGI:1924951)
chr9 136977503 136981741 9q34.2-q34.3 9q34.3 176803 PTGDS Prostaglandin D2 synthase (21kD, brain) PTGDS 5730 ENSG00000107317 distal to ABL Ptgds (MGI:99261)
chr9 136992417 136993987 9q34.3 9q34.3 616315 PAXX, C9orf142 Paralog of XRCC4 and XLF PAXX 286257 ENSG00000148362 Paxx (MGI:2442831)
chr9 136994607 136997928 Chr.9 9q34.3 606533 CLIC3 Chloride intracellular channel 3 CLIC3 9022 ENSG00000169583 Clic3 (MGI:1916704)
chr9 137007233 137028921 9q34 9q34.3 600047 ABCA2, ABC2 ATP-binding cassette 2 ABCA2 20 ENSG00000107331 Abca2 (MGI:99606)
chr9 137030173 137032839 Chr.9 9q34.3 602030 FUT7 Fucosyltransferase 7 (alpha (1,3) fucosyltransferase) FUT7 2529 ENSG00000180549 Fut7 (MGI:107692)
chr9 137039456 137046223 Chr.9 9q34.3 605798 NPDC1, CAB1 Neural proliferation, differentiation, and control protein 1 NPDC1 56654 ENSG00000107281 Npdc1 (MGI:1099802)
chr9 137048097 137054050 9q34 9q34.3 602012 ENTPD2, CD39L1 Ectonucleoside triphosphate diphosphohydrolase 2 ENTPD2 954 ENSG00000054179 same cosmid as ABC2 Entpd2 (MGI:1096863)
chr9 137062126 137070575 9q34.3 9q34.3 612057 C9orf140, P42.3 Chromosome 9 open reading frame 140 SAPCD2 89958 ENSG00000186193 Sapcd2 (MGI:1919330)
chr9 137086926 137109186 9q34.3 9q34.3 604346 MAN1B1, MRT15 Mannosidase, alpha, class 1B member 1 MAN1B1 11253 ENSG00000177239 Mental retardation, autosomal recessive 15, 614202 (3), Autosomal recessive Man1b1 (MGI:2684954)
chr9 137110539 137117979 9q34.3 9q34.3 610537 DPP7, QPP Dipeptidyl peptidase VII DPP7 29952 ENSG00000176978 Dpp7 (MGI:1933213)
chr9 137139091 137168761 9q34.3 9q34.3 138249 GRIN1, NMDAR1, NDHMSR, NDHMSD Glutamate receptor, ionotropic, N-methyl D-aspartate 1 GRIN1 2902 ENSG00000176884 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3), Autosomal dominant; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3), Autosomal recessive Grin1 (MGI:95819)
chr9 137168757 137170038 9q34.3 9q34.3 613505 LRRC26, CAPC Leucine-rich repeat-containing protein 26 LRRC26 389816 ENSG00000184709 Lrrc26 (MGI:2385129)
chr9 137188601 137190369 9q34.3 9q34.3 610882 SSNA1, NA14 Sjogren syndrome nuclear autoantigen 1 SSNA1 8636 ENSG00000176101 Ssna1 (MGI:1915725)
chr9 137174783 137188604 Chr.9 9q34.3 606946 ANAPC2, APC2, KIAA1406 Anaphase-promoting complex, subunit 2 ANAPC2 29882 ENSG00000176248 Anapc2 (MGI:2139135)
chr9 137191616 137200710 9q34.3 9q34.3 613354 TPRN, C9orf75, DFNB79 Taperin TPRN 286262 ENSG00000176058 Deafness, autosomal recessive 79, 613307 (3), Autosomal recessive Tprn (MGI:2139535)
chr9 137204081 137205637 9q34.3 9q34.3 616499 TMEM203 Transmembrane protein 203 TMEM203 94107 ENSG00000187713 Tmem203 (MGI:2443597)
chr9 137205666 137219360 9q34.3 9q34.3 606073 NR1 NADPH-dependent FMN- and FAD-containing oxidoreductase NDOR1 27158 ENSG00000188566 Ndor1 (MGI:1926047)
chr9 137230756 137236553 9q34 9q34.3 609826 SLC34A3, NPTIIC, HHRH Solute carrier family 34 (sodium/phosphate cotransporter), member 3 SLC34A3 142680 ENSG00000198569 Hypophosphatemic rickets with hypercalciuria, 241530 (3), Autosomal recessive Slc34a3 (MGI:2159410)
chr9 137241258 137243706 9q34.3 9q34.3 602660 TUBB4B, TUBB2C, LCAEOD Tubulin, beta-4B TUBB4B 10383 ENSG00000188229 Leber congenital amaurosis with early-onset deafness, 617879 (3), Autosomal dominant Tubb4b (MGI:1915472)
chr9 137255299 137273547 9q34 9q34.3 611180 COBRA1, NELFB, KIAA1182 Cofactor of BRCA1 NELFB 25920 ENSG00000188986 Nelfb (MGI:1931035)
chr9 137423371 137434405 9q34.3 9q34.3 611255 NOXA1 NADPH oxidase activator 1 NOXA1 10811 ENSG00000188747 Noxa1 (MGI:2449980)
chr9 137434363 137441709 9q34 9q34.3 616748 ENTPD8 Ectonucleoside triphosphate diphosphohydrolase 8 ENTPD8 377841 ENSG00000188833 Entpd8 (MGI:1919340)
chr9 137447569 137459333 9q34.3 9q34.3 608137 NSMF, NELF, HH9 NMDA receptor synaptonuclear signaling and neuronal migration factor NSMF 26012 ENSG00000165802 Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3), Autosomal dominant Nsmf (MGI:1861755)
chr9 137459398 137550665 9q34.3 9q34.3 612122 PNPLA7 Patatin-like phospholipase domain containing 7 PNPLA7 375775 ENSG00000130653 Pnpla7 (MGI:2385325)
chr9 137551856 137552554 9q34.3 9q34.3 611846 MRPL41, MRPL27 Mitochondrial ribosomal protein L41 MRPL41 64975 ENSG00000182154 Mrpl41 (MGI:1333816)
chr9 137554443 137578934 9q34.3 9q34.3 613210 WDR85 WD repeat-containing protein 85 DPH7 92715 ENSG00000148399 Dph7 (MGI:1914478)
chr9 137582078 137590484 9q34.3 9q34.3 611424 ZMYND19, MIZIP Zinc finger MYND domain-containing protein 19 ZMYND19 116225 ENSG00000165724 Zmynd19 (MGI:1914437)
chr9 137618991 137836126 9q34.3 9q34.3 607001 EHMT1, EUHMTASE1, DEL9q34, KLEFS1 Euchromatic histone methyltransferase 1 EHMT1 79813 ENSG00000181090 Kleefstra syndrome 1, 610253 (3), Autosomal dominant Ehmt1 (MGI:1924933)
chr9 137877788 138124623 9q34 9q34.3 601012 CACNA1B, CACNL1A5, DYT23 Calcium channel, voltage-dependent, L type, alpha 1B subunit CACNA1B 774 ENSG00000148408 mutation identified in 1 DYT23 family ?Dystonia 23, 614860 (3), Autosomal dominant Cacna1b (MGI:88296)
chr9 0 138394717 Chr.9 187290 H142T Temperature sensitivity complementation, H142 8023
chr10 0 39800000 10p 603188 BMIQ8 Body mass index quantitative trait locus 8 56694 {Obesity, susceptibility to, BMIQ8}, 603188 (2)
chr10 0 39800000 10p 607499 BULN Bulimia nervosa, susceptibility to 337893 between D10S1430 and D10S1423 {Bulimia nervosa, susceptibility to}, 607499 (2), Multifactorial
chr10 0 6600000 10p15 611384 PFFE1 Plasmodium falciparum fever episodes QTL1 101910199 {Plasmodium falciparum fever episodes QTL1}, 611384 (2)
chr10 0 51100000 10pter-q11 601188 ST12, PAC1 Suppression of tumorigenicity 12, prostate Prostate adenocarcinoma, 601188 (2)
chr10 46436 49503 10p15.3 10p15.3 616768 TUBB8, OOMD2 Tubulin, beta 8 TUBB8 347688 ENSG00000261456 Oocyte maturation defect 2, 616780 (3), Autosomal recessive, Autosomal dominant
chr10 134339 254636 10p14 10p15.3 608668 ZMYND11, BS69, BRAM1, MRD30 Zinc finger MYND domain-containing protein 11 ZMYND11 10771 ENSG00000015171 Mental retardation, autosomal dominant 30, 616083 (3), Autosomal dominant Zmynd11 (MGI:1913755)
chr10 274189 689709 10p15.3 10p15.3 611380 DIP2C, KIAA0934 Disco-interacting protein 2, Drosophila, homolog of, C DIP2C 22982 ENSG00000151240 Dip2c (MGI:1920179)
chr10 806913 931899 10p15.3 10p15.3 616513 LARP4B, LARP5, KIAA0217 La ribonucleoprotein domain family, member 4B LARP4B 23185 ENSG00000107929 Larp4b (MGI:106330)
chr10 1018906 1025858 10p15 10p15.3 615389 IDI2, IPPI2 Isopentenyl-diphosphate delta isomerase 2 IDI2 91734 ENSG00000148377
chr10 1022636 1044200 10p15 10p15.3 615391 IDI2AS1 IDI2 antisense RNA 1, noncoding IDI2-AS1 55853
chr10 1039418 1056715 10p15 10p15.3 604055 IDI1 Isopentenyl-diphosphate delta isomerase 1 IDI1 3422 ENSG00000067064 Idi1 (MGI:2442264)
chr10 1177312 1737475 10p15 10p15.3 602065 ADARB2, RED2 Adenosine deaminase, RNA-specific, B2 (homolog of rat BLUE) ADARB2 105 ENSG00000185736 Adarb2 (MGI:2151118)
chr10 3067474 3136804 10p15.3-p15.2 10p15.2 171840 PFKP Phosphofructokinase, platelet type PFKP 5214 ENSG00000067057 Pfkp (MGI:1891833)
chr10 3775995 3785280 10p15 10p15.2 602053 KLF6, COPEB, BCD1, ZF9 Kruppel-like factor-6 KLF6 1316 ENSG00000067082 Gastric cancer, somatic, 613659 (3); Prostate cancer, somatic, 176807 (3) Klf6 (MGI:1346318)
chr10 3800000 6600000 10p15.1 612594 MS2 Multiple sclerosis, susceptibility to, 2 100271694 associated with rs12722489 and rs2104286 {Multiple sclerosis, susceptibility to, 2}, 612594 (2)
chr10 4824553 4908420 10p15.1 10p15.1 617451 AKR1E2, HTSP, TAKR Aldo-keto reductase family 1, member E2 AKR1E2 83592 ENSG00000165568 Akr1e1 (MGI:1914758)
chr10 4963261 4979966 10p15-p14 10p15.1 600449 AKR1C1, DDH1, DD1, HAKRC Aldo-keto reductase family 1, member 1 (dihydrodiol dehydrogenase, type 1) AKR1C1 1645 ENSG00000187134 Akr1c21 (MGI:1924587)
chr10 4987774 5018032 10p15-p14 10p15.1 600450 AKR1C2, DDH2, DD2, HAKRD, SRXY8 Aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase, type II) AKR1C2 1646 ENSG00000151632 Obesity, hyperphagia, and developmental delay (3); 46XY sex reversal 8, 614279 (3), Autosomal recessive Akr1c21 (MGI:1924587)
chr10 5048765 5107685 10p15-p14 10p15.1 603966 AKR1C3, HAKRB, DD3 Aldo-keto reductase family 1, member C3 AKR1C3 8644 ENSG00000196139 Akr1c18 (MGI:2145420)
chr10 5196834 5218946 10p15-p14 10p15.1 600451 AKR1C4, CHDR, CDR, HAKRA, DD4 Aldo-keto reductase family 1, member C4 (chlordecone reductase) AKR1C4 1109 ENSG00000198610 {46XY sex reversal 8, modifier of}, 614279 (3), Autosomal recessive Akr1c6 (MGI:1933427)
chr10 5524888 5526267 10pter-p13 10p15.1 114184 CALML3 Calmodulin-like 3 CALML3 810 ENSG00000178363 Calml3 (MGI:1917655)
chr10 5638856 5666594 10p15.1 10p15.1 615055 ASB13 Ankyrin repeat- and SOCS box-containing protein 13 ASB13 79754 ENSG00000196372 Asb13 (MGI:2145525)
chr10 5765221 5813548 10p15 10p15.1 600767 GDI2, RABGDIB GDP dissociation inhibitor 2 GDI2 2665 ENSG00000057608 pseudogene on chr.7 Gdi2 (MGI:99845)
chr10 5889571 5937594 10p15.1 10p15.1 607222 FBXO18, FBH1, FBX18 F-box only protein 18 FBH1 84893 ENSG00000134452 Fbxo18 (MGI:1354699)
chr10 5948896 5978740 10p15-p14 10p15.1 601070 IL15RA Interleukin-15 receptor, alpha IL15RA 3601 ENSG00000134470 Il15ra (MGI:104644)
chr10 6010693 6062369 10p15.1 10p15.1 147730 IL2RA, CD25, IL2R, IDDM10, IMD41 Interleukin-2 receptor, alpha IL2RA 3559 ENSG00000134460 {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3); Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3), Autosomal recessive Il2ra (MGI:96549)
chr10 6088985 6117458 10p15.1 10p15.1 606935 RBM17, SPF45 RNA binding motif protein 17 RBM17 84991 ENSG00000134453 Rbm17 (MGI:1924188)
chr10 6144877 6254647 10p15-p14 10p15.1 605319 PFKFB3, IPFK2 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 PFKFB3 5209 ENSG00000170525 Pfkfb3 (MGI:2181202)
chr10 6393037 6580645 10p15 10p15.1 600448 PRKCQ Protein kinase C, theta PRKCQ 5588 ENSG00000065675 Prkcq (MGI:97601)
chr10 6600000 29300000 10p14-p12 604401 ARVD6 Arrhythmogenic right ventricular dysplasia 6 27038 Arrhythmogenic right ventricular dysplasia 6, 604401 (2)
chr10 6600000 12200000 10p14 612230 CRCS5 Colorectal cancer, susceptibility to, 5 100188887 associated with rs10795668 {Colorectal cancer, susceptibility to, 5}, 612230 (2)
chr10 6600000 17300000 10p14-p13 601362 DGCR2, DGS2 DiGeorge syndrome chromosome region-2 8026 DiGeorge syndrome/velocardiofacial syndrome complex-2, 601362 (2)
chr10 7158623 7411485 10p14 10p14 615392 SFMBT2, KIAA1617 SCM-like protein with 4 MBT domains 2 SFMBT2 57713 ENSG00000198879 Sfmbt2 (MGI:2447794)
chr10 7559269 7666997 10p15 10p14 609783 ITIH5 Inter-alpha-trypsin inhibitor, heavy chain 5 ITIH5 80760 ENSG00000123243 Itih5 (MGI:1925751)
chr10 7703272 7749519 10p15 10p14 146640 ITIH2 Inter-alpha (globulin) inhibitor, H2 polypeptide ITIH2 3698 ENSG00000151655 Itih2 (MGI:96619)
chr10 7750961 7788026 10p15-p14 10p14 601720 KIN, KIN17, BTCD Antigenic determinant of recombination protein A, mouse, homolog of KIN 22944 ENSG00000151657 Kin (MGI:96676)
chr10 7788103 7807800 10p15.1 10p14 108729 ATP5C1, ATP5CL1, ATP5C ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide-1 ATP5F1C 509 ENSG00000165629 Atp5c1 (MGI:1261437)
chr10 7818503 8016630 10p14 10p14 606576 TAF3, TAFII140 TAF3 RNA polymerase II, TATA box-binding protein-associated factor, 140kD TAF3 83860 ENSG00000165632 Taf3 (MGI:2388097)
chr10 8045419 8075200 10p15 10p14 131320 GATA3, HDR, HDRS GATA-binding protein-3 GATA3 2625 ENSG00000107485 Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3), Autosomal dominant Gata3 (MGI:95663)
chr10 10462514 11336674 10p13 10p14 602538 CELF2, CUGBP2, ETR3, BRUNOL3 CUGbp- and ELAV-like family, member 2 CELF2 10659 ENSG00000048740 Celf2 (MGI:1338822)
chr10 11460509 11611788 10p13 10p14 605405 USP6NL, RNTRE USP6 N-terminal-like USP6NL 9712 ENSG00000148429 Usp6nl (MGI:2138893)
chr10 11920021 12043169 10p15-p13 10p14 605529 UPF2, RENT2 UPF2 regulator of nonsense transcripts, yeast, homolog of UPF2 26019 ENSG00000151461 Upf2 (MGI:2449307)
chr10 12068916 12123227 10p14 10p14 614984 DHTKD1, KIAA1630, AMOXAD, CMT2Q Dehydrogenase E1 and transketolase domains-containing protein 1 DHTKD1 55526 ENSG00000181192 mutation identified in 1 CMT2Q family 2-aminoadipic 2-oxoadipic aciduria, 204750 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3), Autosomal dominant Dhtkd1 (MGI:2445096)
chr10 12195961 12250589 10p14-p13 10p14-p13 617708 CDC123 Cell division cycle 123 CDC123 8872 ENSG00000151465 Cdc123 (MGI:2138811)
chr10 12200000 17300000 10p13 606187 AD7 Alzheimer disease 7 114475 max LOD at D10S1423 Alzheimer disease-7, 606187 (2)
chr10 12200000 17300000 10p13 609888 LPRS Leprosy, paucibacillary type, susceptibility to 81861 {Leprosy, paucibacillary type, susceptibility to}, 609888 (2)
chr10 12349513 12835544 10p13 10p13 607957 CAMK1D, CKLIK Calcium/calmodulin-dependent protein kinase I-delta CAMK1D 57118 ENSG00000183049 Camk1d (MGI:2442190)
chr10 13100081 13138275 10p15-p14 10p13 602432 OPTN, GLC1E, FIP2, HYPL, NRP, ALS12 Optineurin OPTN 10133 ENSG00000123240 Amyotrophic lateral sclerosis 12, 613435 (3); Glaucoma 1, open angle, E, 137760 (3), Autosomal dominant; {Glaucoma, normal tension, susceptibility to}, 606657 (3) Optn (MGI:1918898)
chr10 13161553 13211109 10p13 10p13 609357 MCM10, CNA43 Minichromosome maintenance 10, S. cerevisiae, homolog of MCM10 55388 ENSG00000065328 Mcm10 (MGI:1917274)
chr10 13277795 13300129 10pter-p11.2 10p13 602026 PHYH, PAHX Phytanoyl-CoA hydroxylase PHYH 5264 ENSG00000107537 Refsum disease, 266500 (3), Autosomal recessive Phyh (MGI:891978)
chr10 13317427 13348297 10p13 10p13 600902 SEPHS1, SPS1 Selenophosphate synthetase 1 SEPHS1 22929 ENSG00000086475 Sephs1 (MGI:1923580)
chr10 13586810 13645343 10p13 10p13 604993 PRPF18, PRP18 Prp18, S. cerevisiae, homolog of PRPF18 8559 ENSG00000165630 Prpf18 (MGI:1914479)
chr10 13638299 14330883 10p13 10p13 616305 FRMD4A, KIAA1294, CCAFCA FERM domain-containing protein 4A FRMD4A 55691 ENSG00000151474 mutation identified in 1 CCAFCA family ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3), Autosomal recessive Frmd4a (MGI:1919850)
chr10 14819244 14838072 10p13 10p13 611233 ARMETL1, CDNF Arginine-rich protein mutated in early stage tumors-like 1 CDNF 441549 ENSG00000185267 Cdnf (MGI:3606576)
chr10 14838159 14871740 10p12.3 10p13 610369 HSPA14, HSP70L1 Heat-shock 70kD protein 14 HSPA14 51182 ENSG00000187522 Hspa14 (MGI:1354164)
chr10 14878782 14904314 10p13 10p13 606503 SUV39H2, FLJ23414 Suppressor of variegation 3-9, Drosophila, homolog of, 2 SUV39H2 79723 ENSG00000152455 Suv39h2 (MGI:1890396)
chr10 14897563 14954431 10p 10p13 605988 DCLRE1C, ARTEMIS, SCIDA DNA cross-link repair protein 1C DCLRE1C 64421 ENSG00000152457 Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, Athabascan type, 602450 (3), Autosomal recessive Dclre1c (MGI:2441769)
chr10 14954227 14988049 10p13 10p13 614174 MEIG1 Meiosis-expressed gene 1, mouse, homolog of MEIG1 644890 ENSG00000197889 Meig1 (MGI:1202878)
chr10 15097179 15104256 10p13 10p13 606116 RPP38 Ribonuclease P, 38-kD subunit RPP38 10557 ENSG00000152464 Rpp38 (MGI:2443607)
chr10 15104587 15168709 10p13 10p13 603801 NMT2 N-myristoyltransferase 2 NMT2 9397 ENSG00000152465 Nmt2 (MGI:1202298)
chr10 15513948 15720334 10p13 10p13 604063 ITGA8, RHDA1 Integrin, alpha-8 ITGA8 8516 ENSG00000077943 Renal hypodysplasia/aplasia 1, 191830 (3), Autosomal recessive Itga8 (MGI:109442)
chr10 15778168 15860532 10p13 10p13 611649 MINDY3, C10orf97, CARP MINDY lysine-48 deubiquitinase 3 MINDY3 80013 ENSG00000148481 Mindy3 (MGI:1914210)
chr10 16436942 16517961 10p12 10p13 604446 PTER Phosphotriesterase-related protein PTER 9317 ENSG00000165983 Pter (MGI:107372)
chr10 16513742 16522004 10p13 10p13 615227 C1QL3, CTRP13, K100 Complement component 1, q subcomponent-like 3 C1QL3 389941 ENSG00000165985 C1ql3 (MGI:2387350)
chr10 16590615 16817453 10p13 10p13 179555 RSU1 Ras suppressor protein 1 RSU1 6251 ENSG00000148484 Rsu1 (MGI:103040)
chr10 16823965 17130491 10p12.1 10p13 602997 CUBN, IFCR, MGA1 Cubilin (intrinsic factor-cobalamin receptor) CUBN 8029 ENSG00000107611 Megaloblastic anemia-1, Finnish type, 261100 (3), Autosomal recessive Cubn (MGI:1931256)
chr10 17137335 17202070 10p15.1 10p13 602478 TRDMT1, DMNT2 tRNA aspartic acid methyltransferase 1 (DNA methyltransferase 2) TRDMT1 1787 ENSG00000107614 Trdmt1 (MGI:1274787)
chr10 17228209 17237596 10p13 10p13 193060 VIM, CTRCT30 Vimentin VIM 7431 ENSG00000026025 Cataract 30, pulverulent, 116300 (3), Autosomal dominant Vim (MGI:98932)
chr10 17315413 17455965 10p12.31 10p12.33 610139 ST8SIA6, SIAT8F ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ST8SIA6 338596 ENSG00000148488 St8sia6 (MGI:2386797)
chr10 17589958 17617373 10p12.33 10p12.33 610467 HACD1, PTPLA 3-hydroxyacyl-CoA dehydratase 1 HACD1 9200 ENSG00000165996 Hacd1 (MGI:1353592)
chr10 17644124 17716823 10p14-p13 10p12.33 601899 STAM Signal transducing adaptor molecule STAM 8027 ENSG00000136738 Stam (MGI:1329014)
chr10 17809342 17911161 10p13 10p12.33 153618 MRC1, MMR Mannose receptor, C type 1 MRC1 4360 ENSG00000260314 Mrc1 (MGI:97142)
chr10 18140559 18545880 10p12 10p12.33-p12.31 600003 CACNB2 Calcium channel, voltage-dependent, beta 2 subunit CACNB2 783 ENSG00000165995 Brugada syndrome 4, 611876 (3) Cacnb2 (MGI:894644)
chr10 18512581 18659263 10p12.31 10p12.31 617199 NSUN6 NOP2/SUN RNA methyltransferase family, member 6 NSUN6 221078 ENSG00000241058 Nsun6 (MGI:1921705)
chr10 18659334 18681638 10p12.31 10p12.31 608909 ARL5B, ARL8 ADP-ribosylation factor-like 5B ARL5B 221079 ENSG00000165997 Arl5b (MGI:1923119)
chr10 19046930 19734477 10p12.31 10p12.31 617715 MALRD1, C10orf112, DIET1 MAM and LDL receptor class A domain-containing protein 1 MALRD1 340895 ENSG00000204740 Malrd1 (MGI:1928271)
chr10 19816214 20289855 10p12.3 10p12.31 606827 PLXDC2, TEM7R Plexin domain containing 2 PLXDC2 84898 ENSG00000120594 Plxdc2 (MGI:1914698)
chr10 20779972 21174186 10p13-p12 10p12.31 605491 NEBL Nebulette NEBL 10529 ENSG00000078114
chr10 21496561 21496640 10p12.31 10p12.31 615202 MIR1915 Micro RNA 1915 MIR1915 100302129
chr10 21524615 21743629 10p12 10p12.31 602409 AF10 ALL1 fused gene from chromosome 10 MLLT10 8028 ENSG00000078403 fuses with MLL and HEAB Leukemia, acute myeloid, 601626 (3), Autosomal dominant Mllt10 (MGI:1329038)
chr10 21756547 22003762 10p12.31 10p12.31 611207 DNAJC1, HTJ1 DNAJ/HSP40 homolog, subfamily C, member 1 DNAJC1 64215 ENSG00000136770 Dnajc1 (MGI:103268)
chr10 22208813 22209982 10p12.3 10p12.31 613249 EBLN1 Endogenous Borna-like N element-containing protein 1 EBLN1 340900 ENSG00000223601
chr10 22316382 22320316 10p12.2 10p12.2 616700 COMMD3 COMM domain-containing protein 3 COMMD3 23412 ENSG00000148444 Commd3 (MGI:88218)
chr10 22321209 22331484 10p13 10p12.2 164831 BMI1 Oncogene BMI-1 BMI1 648 ENSG00000168283
chr10 22345444 22417609 10p12-p11.2 10p12.2 605730 SPAG6 Sperm-associated antigen 6 SPAG6 9576 ENSG00000077327 Spag6l (MGI:1354388)
chr10 22534836 22714573 10p12.2 10p12.2 603140 PIP4K2A, PI5P4KA, PIP5K2A Phosphatidylinositol 5-phosphate 4-kinase, type II, alpha PIP4K2A 5305 ENSG00000150867 Pip4k2a (MGI:1298206)
chr10 22928023 23038526 10p12.23 10p12.2 611226 ARMC3 Armadillo repeat-containing protein 3 ARMC3 219681 ENSG00000165309 Armc3 (MGI:1918132)
chr10 23095497 23122012 10p12 10p12.2 613782 MSRB2, CBS1 Methionine sulfoxide reductase B2 MSRB2 22921 ENSG00000148450 Msrb2 (MGI:1923717)
chr10 23192530 23194251 10p12.3 10p12.2 607194 PTF1A, PACA, PAGEN2 Pancreas transcription factor 1, alpha subunit PTF1A 256297 ENSG00000168267 Pancreatic agenesis 2, 615935 (3), Autosomal recessive; Pancreatic and cerebellar agenesis, 609069 (3), Autosomal recessive Ptf1a (MGI:1328312)
chr10 23439268 23442380 10p12.2 10p12.2 612022 OTUD1, DUBA7 OTU domain-containing protein 1 OTUD1 220213 ENSG00000165312 Otud1 (MGI:1918448)
chr10 23694726 24547847 10p12.2 10p12.2-p12.1 617367 KIAA1217, SKT KIAA1217 gene KIAA1217 56243 ENSG00000120549 Etl4 (MGI:95454)
chr10 24583608 24725420 10p12.3 10p12.1 609870 ARHGAP21, KIAA1424 GTPase-activating protein, Rho, 21 ARHGAP21 57584 ENSG00000107863 pseudogene on chr.6 Arhgap21 (MGI:1918685)
chr10 24848606 24952643 10p12.1 10p12.1 610751 PRTFDC1 Phosphoribosyl transferase domain-containing protein 1 PRTFDC1 56952 ENSG00000099256
chr10 24952318 25026663 10p12.1 10p12.1 611260 THNSL1, TSH1 Threonine synthase-like 1 THNSL1 79896 ENSG00000185875 Thnsl1 (MGI:2139347)
chr10 24981978 25062278 10p12.1 10p12.1 611025 ENKUR, C10orf63 Enkurin, TRPC channel-interacting protein ENKUR 219670 ENSG00000151023 Enkur (MGI:1918483)
chr10 25174736 25602228 10p12.1 10p12.1 614573 GPR158, KIAA1136 G protein-coupled receptor 158 GPR158 57512 ENSG00000151025 Gpr158 (MGI:2441697)
chr10 25934072 26212535 10p11.1 10p12.1 606808 MYO3A, DFNB30 Myosin IIIA MYO3A 53904 ENSG00000095777 Deafness, autosomal recessive 30, 607101 (3), Autosomal recessive Myo3a (MGI:2183924)
chr10 26216306 26304561 10p11.23 10p12.1 138275 GAD2 Glutamate decarboxylase-2, pancreas GAD2 2572 ENSG00000136750 Gad2 (MGI:95634)
chr10 26697423 26747245 10p12.1 10p12.1 607429 PDSS1, TPT, COQ1, COQ10D2 Prenyl diphosphate synthase, subunit 1 PDSS1 23590 ENSG00000148459 Coenzyme Q10 deficiency, primary, 2, 614651 (3), Autosomal recessive Pdss1 (MGI:1889278)
chr10 26746595 26861086 10p11.2 10p12.1 603050 ABI1 ABL-interactor 1 ABI1 10006 ENSG00000136754 Abi1 (MGI:104913)
chr10 26938194 27100497 10p12.1 10p12.1 610855 ANKRD26, KIAA1074, THC2 Ankyrin repeat domain-containing protein 26 ANKRD26 22852 ENSG00000107890 Thrombocytopenia 2, 188000 (3), Autosomal dominant Ankrd26 (MGI:1917887)
chr10 27110110 27155050 10p14 10p12.1 607472 YME1L1, YME1L, PAMP, OPA11 Mitochondrial escape 1-like 1 YME1L1 10730 ENSG00000136758 mutation identified in1 OPA11 family ?Optic atrophy 11, 617302 (3), Autosomal recessive Yme1l1 (MGI:1351651)
chr10 27154478 27187952 10p12.1 10p12.1 608221 MASTL, FLJ14813, GWL Microtubule-associated serine/threonine kinase-like MASTL 84930 ENSG00000120539 Mastl (MGI:1914371)
chr10 27182837 27243541 10p12.1 10p12.1 616618 ACBD5, KIAA1996 Acyl-CoA-binding domain-containing protein 5 ACBD5 91452 ENSG00000107897 Acbd5 (MGI:1921409)
chr10 27398187 27414367 10p12.1 10p12.1 611791 PTCHD3 Patched domain-containing protein 3 PTCHD3 374308 ENSG00000182077 Ptchd3 (MGI:1921925)
chr10 27504173 27542236 10p12.1 10p12.1 602207 RAB18, WARBM3 Ras-associated protein RAB18 RAB18 22931 ENSG00000099246 Warburg micro syndrome 3, 614222 (3), Autosomal recessive Rab18 (MGI:102790)
chr10 27672873 27745848 10p12.1 10p12.1 601332 MKX, IFRX, IRXL1 Mohawk homeobox MKX 283078 ENSG00000150051 Mkx (MGI:2687286)
chr10 27812163 27999499 10p12.1 10p12.1 615408 ARMC4, CILD23 Armadillo repeat-containing protein 4 ARMC4 55130 ENSG00000169126 Ciliary dyskinesia, primary, 23, 615451 (3), Autosomal recessive Armc4 (MGI:1922184)
chr10 28050992 28303065 10p12.1 10p12.1 610973 MPP7 Membrane protein, palmitoylated 7 MPP7 143098 ENSG00000150054 Mpp7 (MGI:1922989)
chr10 28532587 28623111 10p12.1-p11.2 10p12.1 615049 WAC, KIAA1844, DESSH WW domain-containing adaptor with coiled-coil region WAC 51322 ENSG00000095787 Desanto-Shinawi syndrome, 616708 (3), Autosomal dominant Wac (MGI:2387357)
chr10 28677494 28682938 10p12.3-p11.2 10p12.1 604444 BAMBI, NMA BMP and activin membrane-bound inhibitor, xenopus, homolog of BAMBI 25805 ENSG00000095739 Bambi (MGI:1915260)
chr10 29300000 59400000 10p11.23-q21.1 607239 DFNB33 Deafness, autosomal recessive 33 DFNB33 170508 prev. assignment to chr. 9 an error Deafness, autosomal recessive 33, 607239 (2), Autosomal recessive
chr10 29457337 29737000 10p11.2 10p11.23 604126 SVIL Supervillin SVIL 6840 ENSG00000197321 Svil (MGI:2147319)
chr10 30012799 30115493 10p11 10p11.23 614398 KIAA1462, JCAD KIAA1462 gene JCAD 57608 ENSG00000165757 Jcad (MGI:2685174)
chr10 30309800 30349337 10p11.23 10p11.23 613669 MTPAP, PAPD1, SPAX4 Mitochondrial poly(A) polymerase MTPAP 55149 ENSG00000107951 mutation identified in 1 SPAX4 family ?Spastic ataxia 4, autosomal recessive, 613672 (3), Autosomal recessive Mtpap (MGI:1914690)
chr10 30434020 30461832 10p11.2 10p11.23 191195 MAP3K8, COT, EST, TPL2 Mitogen-activated protein kinase kinase kinase 8 (cancer Osaka thyroid oncogene) MAP3K8 1326 ENSG00000107968 Lung cancer, somatic, 211980 (3) Map3k8 (MGI:1346878)
chr10 30606221 30629760 10p11.23 10p11.23 612748 LYZL2 Lysozyme-like 2 LYZL2 119180 ENSG00000151033
chr10 31100000 34200000 10p11.22 611934 EIG5 Epilepsy, idiopathic generalized, susceptibility to, 5 100188861 max lod at D10S1426 {Epilepsy, idiopathic generalized, susceptibility to, 5}, 611934 (2)
chr10 31307716 31320446 10p11.22 10p11.22 616915 ZEB1AS1 ZEB1 antisense RNA 1, noncoding ZEB1-AS1 220930
chr10 31318494 31529813 10p11.2 10p11.22 189909 ZEB1, TCF8, NIL2A, PPCD3, FECD6 Zinc finger E box-binding homeobox 1 ZEB1 6935 ENSG00000148516 Corneal dystrophy, Fuchs endothelial, 6, 613270 (3); Corneal dystrophy, posterior polymorphous, 3, 609141 (3) Zeb1 (MGI:1344313)
chr10 31805397 31928875 10p12 10p11.22 610577 ARHGAP12 Rho GTPase-activating protein 12 ARHGAP12 94134 ENSG00000165322 Arhgap12 (MGI:1922665)
chr10 32009009 32056442 10p11.22 10p11.22 602809 KIF5B, KNS1, UKHC Kinesin 1 KIF5B 3799 ENSG00000170759 Kif5b (MGI:1098268)
chr10 32267715 32378797 10p11 10p11.22 610999 EPC1 Enhancer of polycomb, Drosophila, homolog of, 1 EPC1 80314 ENSG00000120616 Epc1 (MGI:1278322)
chr10 32900317 32958364 10p11.2 10p11.22 135630 ITGB1, FNRB Integrin, beta-1 (fibronectin receptor, beta polypeptide; antigen CD29 includes MDF2, MSK12) ITGB1 3688 ENSG00000150093 pseudogene FNRBL on 19p Itgb1 (MGI:96610)
chr10 33177490 33334904 10p12 10p11.22 602069 NRP1, NRP, VEGF165R Neuropilin 1 NRP1 8829 ENSG00000099250 Nrp1 (MGI:106206)
chr10 34109559 34815324 10p11.21 10p11.22-p11.21 606745 PARD3, PAR3 Partitioning-defective protein 3, C. elegans, homolog of PARD3 56288 ENSG00000148498 Pard3 (MGI:2135608)
chr10 34200000 59400000 10p11.21-q21.1 614990 USH1K Usher syndrome, type IK USH1K 101180907 max lod at D10S539 Usher syndrome, type IK, 614990 (2), Autosomal recessive
chr10 35008550 35126898 10p11.2-p11.1 10p11.21 603135 CUL2 Cullin 2 CUL2 8453 ENSG00000108094 Cul2 (MGI:1918995)
chr10 35126829 35212957 10p12.1-p11.2 10p11.21 123812 CREM cAMP-responsive element modulator CREM 1390 ENSG00000095794 Crem (MGI:88495)
chr10 35246980 35572669 10p11.2 10p11.21 612786 CCNY, CFP1, CCNX, C10orf9 Cyclin Y CCNY 219771 ENSG00000108100 Ccny (MGI:1915224)
chr10 35605409 35608934 10p11.21 10p11.21 611922 GJD4, CX40.1 Gap junction protein, delta-4 GJD4 219770 ENSG00000177291 Gjd4 (MGI:2444990)
chr10 35638248 35641433 10p11.2 10p11.21 606146 FZD8 Frizzled, Drosophila, homolog of, 8 FZD8 8325 ENSG00000177283 Fzd8 (MGI:108460)
chr10 37125753 37309297 10p11.21 10p11.21 610856 ANKRD30A Ankyrin repeat domain-containing protein 30A ANKRD30A 91074 ENSG00000148513
chr10 37949571 37976654 10p11.2-q11.2 10p11.21 194528 ZNF25, KOX19 Zinc finger protein-25 (KOX 19) ZNF25 219749 ENSG00000175395 Zfp9 (MGI:99210)
chr10 38010482 38067833 10q11.2 10p11.1 194521 ZNF33A, NF11A, KOX2 Zinc finger protein-33a ZNF33A 7581 ENSG00000189180
chr10 38094326 38150292 10p11.1 10p11.1 616085 ZNF37A, KOX21, ZNF37 Zinc finger protein 37A ZNF37A 7587 ENSG00000075407
chr10 39800000 133797422 10q 608176 AITD4 Autoimmune thyroid disease, susceptibility to, 4 387581 {Autoimmune thyroid disease, susceptibility to, 4}, 608176 (2)
chr10 41600000 68800000 10q11.2-q21 610926 STHAG5 Tooth agenesis, selective, 5 100188748 D10S604 and D10S568 Tooth agenesis, selective, 5, 610926 (2)
chr10 42574168 42638836 10q11.2 10q11.21 194522 ZNF33B, ZNF11B, KOX2 Zinc finger protein-33b ZNF33B 7582 ENSG00000196693
chr10 42782505 42834936 10q11.21 10q11.21 611448 BMS1, BMS1L, KIAA0187, ACC Bms1, ribosome assembly protein, S. cerevisiae, homolog of BMS1 9790 ENSG00000165733 mutation identified in one ACC family ?Aplasia cutis congenita, nonsyndromic, 107600 (3), Autosomal dominant Bms1 (MGI:2446132)
chr10 43077026 43130350 10q11.2 10q11.21 164761 RET, MEN2A, HSCR1 RET transforming sequence; oncogene RET RET 5979 ENSG00000165731 Central hypoventilation syndrome, congenital, 209880 (3), Autosomal dominant; {Hirschsprung disease, susceptibility to, 1}, 142623 (3), Autosomal dominant; Medullary thyroid carcinoma, 155240 (3), Autosomal dominant; Multiple endocrine neoplasia IIA, 171400 (3), Autosomal dominant; Multiple endocrine neoplasia IIB, 162300 (3), Autosomal dominant; Pheochromocytoma, 171300 (3), Autosomal dominant Ret (MGI:97902)
chr10 43138444 43185307 10q11.22 10q11.21 616616 CSGALNACT2 Chondroitin sulfate N-acetylgalactosaminyltransferase 2 CSGALNACT2 55454 ENSG00000169826 Csgalnact2 (MGI:1926002)
chr10 43194532 43266918 10q11.21 10q11.21 614531 RASFEF1A RASGEF domain family, member 1A RASGEF1A 221002 ENSG00000198915 Rasgef1a (MGI:1917977)
chr10 43371643 43376334 10q11.21 10q11.21 616926 FXYD4, CHIF FXYD domain-containing ion transport regulator 4 FXYD4 53828 ENSG00000150201 Fxyd4 (MGI:1889005)
chr10 43385616 43409247 10q11.21-q11.22 10q11.21 601037 HNRPF Heterogeneous nuclear ribonucleoprotein F HNRNPF 3185 ENSG00000169813 Hnrnpf (MGI:2138741)
chr10 43554515 43574618 10q11.2 10q11.21 601069 ZNF239, MOK2 Zinc finger protein-239 ZNF239 8187 ENSG00000196793 previously 19q13.2-q13.3 Zfp239 (MGI:1306812)
chr10 43643858 43648877 10q23-q24 10q11.21 194539 ZNF32, KOX30 Zinc finger protein-32 (KOX30) ZNF32 7580 ENSG00000169740 Zfp637 (MGI:2448537)
chr10 44292087 44385096 10q11.1 10q11.21 600835 CXCL12, SDF1 Chemokine, C-X-C motif, ligand 12 (stromal cell-derived factor 1) CXCL12 6387 ENSG00000107562 {AIDS, resistance to}, 609423 (3) Cxcl12 (MGI:103556)
chr10 44959752 44994723 10q11.21 10q11.21 610559 RASSF4, AD037 Ras association domain family, member 4 RASSF4 83937 ENSG00000107551 Rassf4 (MGI:2386853)
chr10 44976260 44978881 10q11.21 10q11.21 611309 C10orf10, DEPP, FIG Chromosome 10 open reading frame 10 DEPP1 11067 ENSG00000165507 8430408G22Rik (MGI:1918730)
chr10 45000824 45005328 10q11.2 10q11.21 194529 ZNF22, KOX15 Zinc finger protein-22 (KOX15) ZNF22 7570 ENSG00000165512 Zfp422 (MGI:1914505)
chr10 45374165 45446120 10q11.2 10q11.21 152390 ALOX5 Arachidonate 5-lipoxygenase ALOX5 240 ENSG00000012779 {Asthma, diminished response to antileukotriene treatment in}, 600807 (3), Autosomal dominant; {Atherosclerosis, susceptibility to} (3) Alox5 (MGI:87999)
chr10 45454584 45594905 10q11.21 10q11.21-q11.22 613335 MARCH8 Membrane-associated RING-CH finger protein 8 MARCH8 220972 ENSG00000165406 March8 (MGI:1919029)
chr10 45727199 45792963 10q11.22 10q11.22 613631 WASHC2C, FAM21C, VPEF, KIAA0592 WASH complex, subunit 2C WASHC2C 253725 ENSG00000172661 Washc2 (MGI:106463)
chr10 45972452 46003741 10q11.21-q11.23 10q11.22 605034 TIMM23 Translocase of inner mitochondrial membrane 23, Yeast, homolog of TIMM23 100287932 ENSG00000265354 Timm23 (MGI:1858317)
chr10 46005087 46030713 10q11.2 10q11.22 601984 NCOA4, ELE1, PTC3 Nuclear receptor coactivator 4 NCOA4 8031 ENSG00000266412 fused with RET to form PTC3 Ncoa4 (MGI:1350932)
chr10 46033304 46046268 10q11.2 10q11.22 157145 MSMB, HPC13 Microseminoprotein, beta MSMB 4477 ENSG00000263639 {Prostate cancer, hereditary, 13}, 611928 (3) Msmb (MGI:97166)
chr10 46458547 46470693 10q11.2-q21.2 10q11.22 601790 PPYR1, NPY4R, PP1 Pancreatic polypeptide receptor-1 NPY4R 5540 ENSG00000204174
chr10 46543973 46557417 10q11.22 10q11.22 611240 GPRIN2, GRIN2 G protein-regulated inducer of neurite outgrowth 2 GPRIN2 9721 ENSG00000204175 Gprin2 (MGI:2444560)
chr10 46578017 46595169 10q11.1 10q11.22 608081 SYT15 Synaptotagmin 15 SYT15 83849 ENSG00000204176 Syt15 (MGI:2442166)
chr10 46911371 47003828 10q11.2 10q11.22 610630 PTPN20A Protein tyrosine phosphatase, nonreceptor-type, 20A PTPN20 26095 ENSG00000204179 Ptpn20 (MGI:1196295)
chr10 46911371 47003828 10q11.2 10q11.22 610631 PTPN20B Protein tyrosine phosphatase, nonreceptor-type, 20B PTPN20 26095 ENSG00000204179
chr10 47300223 47313582 10q11.22 10q11.22 601361 GDF10, BMP3B Growth/differentiation factor 10 GDF10 2662 ENSG00000266524 Gdf10 (MGI:95684)
chr10 47322489 47327587 10q11.22 10q11.22 605120 GDF2, BMP9, HHT5 Growth differentiation factor 2 (bone morphogenetic protein 9) GDF2 2658 ENSG00000263761 Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3), Autosomal dominant Gdf2 (MGI:1321394)
chr10 47348370 47357874 10q11.2 10q11.22 180290 RBP3, RP66 Retinol-binding protein-3, interstitial RBP3 5949 ENSG00000265203 1 family identified with mutation ?Retinitis pigmentosa 66, 615233 (3), Autosomal recessive Rbp3 (MGI:97878)
chr10 47467992 47991878 10q11.2 10q11.22 602396 ANXA8 Annexin A8 ANXA8 653145 ENSG00000265190 Anxa8 (MGI:1201374)
chr10 48156558 48274897 10q11.22 10q11.22 613323 FRMPD2 FERM and PDZ domains-containing protein 2 FRMPD2 143162 ENSG00000170324 Frmpd2 (MGI:2685472)
chr10 48306638 48439359 10q11.2 10q11.22 601158 MAPK8, PRKM8, JNK1, SAPK1 Mitogen-activated protein kinase 8 MAPK8 5599 ENSG00000107643 Mapk8 (MGI:1346861)
chr10 48429830 48656264 10q11 10q11.22-q11.23 610585 ARHGAP22 Rho GTPase-activating protein 22 ARHGAP22 58504 ENSG00000128805 Arhgap22 (MGI:2443418)
chr10 48600000 51100000 10q11.23 610987 ASAH2C, ASAH2L N-acylsphingosine amidohydrolase 2C
chr10 48600000 80300000 10q11.23-q22.3 614237 HYPT9 Hypotrichosis 9 100736250 between D10S538 and D10S2327 Hypotrichosis 9, 614237 (2), Autosomal recessive
chr10 48684815 48982955 10q11.22-q11.23 10q11.23 613316 WDFY4, KIAA1607 WD repeat- and FYVE domain-containing protein 4 WDFY4 57705 ENSG00000128815 Wdfy4 (MGI:3584510)
chr10 49364069 49396015 10q11.23 10q11.23 606701 DRGX, DRG11 Dorsal root ganglia homeobox DRGX 644168 ENSG00000165606
chr10 49454479 49539537 10q11 10q11.23 609413 ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11 Excision repair cross complementing rodent repair deficiency, complementation group 6 ERCC6 2074 ENSG00000225830 Cerebrooculofacioskeletal syndrome 1, 214150 (3), Autosomal recessive; Cockayne syndrome, type B, 133540 (3), Autosomal recessive; De Sanctis-Cacchione syndrome, 278800 (3), Autosomal recessive; {Lung cancer, susceptibility to}, 211980 (3), Autosomal recessive; {Macular degeneration, age-related, susceptibility to, 5}, 613761 (3); Premature ovarian failure 11, 616946 (3), Autosomal dominant; UV-sensitive syndrome 1, 600630 (3), Autosomal recessive Ercc6 (MGI:1100494)
chr10 49609094 49665103 10q11.2 10q11.23 118490 CHAT, CMS6 Choline acetyltransferase CHAT 1103 ENSG00000070748 Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3), Autosomal recessive Chat (MGI:88392)
chr10 49610300 49612719 10q11.2 10q11.23 600336 SLC18A3, VACHT, CMS21 Solute carrier family 18 (vesicular acetylcholine), member 3 SLC18A3 6572 ENSG00000187714 Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3), Autosomal recessive Slc18a3 (MGI:1101061)
chr10 49734640 49762378 10q11.23 10q11.23 617513 OGDHL, KIAA1290 Oxoglutarate dehydrogenase-like protein OGDHL 55753 ENSG00000197444 Ogdhl (MGI:3616088)
chr10 49818273 49942026 10q11.23 10q11.23 603501 PARG Poly(ADP-ribose) glycohydrolase PARG 8505 ENSG00000227345 Parg (MGI:1347094)
chr10 50184860 50251563 10q11.23 10q11.23 611202 ASAH2 N-acylsphingosine amidohydrolase 2 ASAH2 56624 ENSG00000188611 Asah2 (MGI:1859310)
chr10 50305584 50623976 10q11.2 10q11.23 611573 SGMS1, SMS1, TMEM23, MOB Sphingomyelin synthase 1 SGMS1 259230 ENSG00000198964 Sgms1 (MGI:2444110)
chr10 50991150 52298349 10q11.2 10q11.2-q21.1 176894 PRKG1, PRKG1B, PRKGR1B, AAT8 Protein kinase, cGMP-dependent, regulatory, type I PRKG1 5592 ENSG00000185532 Aortic aneurysm, familial thoracic 8, 615436 (3), Autosomal dominant Prkg1 (MGI:108174)
chr10 51100000 68800000 10q21 613065 ALL1 Leukemia, acute lymphocytic, susceptibility to, 1 100310785 associated with rs10821936 {Leukemia, acute lymphocytic, susceptibility to, 1}, 613065 (2)
chr10 51100000 68800000 10q21 612369 ALPQTL4 Alkaline phosphatase, plasma level of, QTL 4 100196916 linkage with rs12355784 {Alkaline phosphatase, plasma level of, QTL4}, 612369 (2)
chr10 51100000 68800000 10q21 612255 IBD15 Inflammatory bowel disease 15 100190929 association with rs10761659 {Inflammatory bowel disease 15}, 612255 (2)
chr10 51100000 68800000 10q21 612357 MAFD8 Major affective disorder 8 100196912 associated with rs20994336 {Major affective disorder-8, susceptibility to}, 612357 (2)
chr10 51100000 59400000 10q21.1 612717 MYP15 Myopia 15 MYP15 100294716 max lod at D10S1643 Myopia 15, 612717 (2), Autosomal dominant
chr10 51695485 51699594 10q22-q23 10q21.1 611968 CSTF2T, KIAA0689 Cleavage stimulation factor, 3-prime pre-RNA, subunit 2, 64kD, tau variant CSTF2T 23283 ENSG00000177613 Cstf2t (MGI:1932622)
chr10 52314182 52317656 10q11.2 10q21.1 605189 DKK1 Dickkopf, Xenopus, homolog of, 1 DKK1 22943 ENSG00000107984 Dkk1 (MGI:1329040)
chr10 52764976 52772846 10q11.2-q21 10q21.1 154545 MBL2, MBL, MBP1, MBL2D, MBPD Mannose-binding lectin 2, soluble (opsonic defect) MBL2 4153 ENSG00000165471 near MEN2A {Chronic infections, due to MBL deficiency}, 614372 (3), Autosomal dominant Mbl2 (MGI:96924)
chr10 53802770 55629181 10q21-q22 10q21.1 605514 PCDH15, DFNB23, USH1F Protocadherin 15 PCDH15 65217 ENSG00000150275 Deafness, autosomal recessive 23, 609533 (3), Autosomal recessive; Usher syndrome, type 1D/F digenic, 601067 (3), Autosomal recessive, Digenic recessive; Usher syndrome, type 1F, 602083 (3), Autosomal recessive Pcdh15 (MGI:1891428)
chr10 56357437 56361272 10q21-q22 10q21.1 609177 ZWINT, SIP30 ZW10 interacting kinetochore protein ZWINT 11130 ENSG00000122952 Zwint (MGI:1289227)
chr10 58191516 58269960 10q21 10q21.1 609851 IPMK Inositol polyphosphate multikinase IPMK 253430 ENSG00000151151 Ipmk (MGI:1916968)
chr10 58269101 58289258 10q21.1 10q21.1 611932 CISD1, MITONEET CDGSH iron sulfur domain protein 1 CISD1 55847 ENSG00000122873 Cisd1 (MGI:1261855)
chr10 58334978 58370752 10q11.2-q21 10q21.1 602961 UBE2D1, UBCH5A, UBCH5 Ubiquitin-conjugating enzyme E2D 1 UBE2D1 7321 ENSG00000072401 Ube2d1 (MGI:2384911)
chr10 58385142 58399229 10q21 10q21.1 600438 TFAM, TCF6L2, TCF6L1, TCF6L3, MTTF1, TCF6, MTDPS15 Transcription factor A, mitochondrial TFAM 7019 ENSG00000108064 mutation identified in 1 MTDPS15 family ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3), Autosomal recessive Tfam (MGI:107810)
chr10 58512902 58831436 10q21.2 10q21.1 614295 BICC1, BICC, CYSRD Bicaudal C, Drosophila, homolog of, 1 BICC1 80114 ENSG00000122870 {Renal dysplasia, cystic, susceptibility to}, 601331 (3), Autosomal dominant Bicc1 (MGI:1933388)
chr10 59650763 59710078 10q21.2 10q21.2 614242 SLC16A9, MCT9 Solute carrier family 16 (monocarboxylic acid transporter), member 9 SLC16A9 220963 ENSG00000165449 Slc16a9 (MGI:1914109)
chr10 59736989 59753444 10q21.2 10q21.2 616246 MRLN, LINC00948 Myoregulin MRLN 100507027 ENSG00000227877
chr10 59788746 59906655 10q21 10q21.2 601985 CCDC6, D10S170, H4, TST1 Coiled-coil domain-containing 6 CCDC6 8030 ENSG00000108091 fused with RET to form PTC1 Ccdc6 (MGI:1923801)
chr10 60026297 60733525 10q21 10q21.2 600465 ANK3, MRT37 Ankyrin-3, node of Ranvier ANK3 288 ENSG00000151150 mutation identified in 1 family ?Mental retardation, autosomal recessive, 37, 615493 (3), Autosomal recessive Ank3 (MGI:88026)
chr10 60778330 60794851 10q21.1 10q21.2 116940 CDK1, CDC2 Cyclin-dependent kinase 1 CDK1 983 ENSG00000170312 Cdk1 (MGI:88351)
chr10 60869437 61001485 10q21.1 10q21.2 607351 RHOBTB1, KIAA0740 Rho-related BTB domain-containing protein 1 RHOBTB1 9886 ENSG00000072422 Rhobtb1 (MGI:1916538)
chr10 61406641 61453449 10q21.2 10q21.2 617803 TMEM26 Transmembrane protein 26 TMEM26 219623 ENSG00000196932 Tmem26 (MGI:2143537)
chr10 61901253 62096947 10q21.2 10q21.2 608538 ARID5B, MRF2, DESRT AT-rich interaction domain-containing protein 5B ARID5B 84159 ENSG00000150347 Arid5b (MGI:2175912)
chr10 62374156 62672010 10q21.2 10q21.2 607818 ZNF365, UAN Zinc finger protein 365 ZNF365 22891 ENSG00000138311 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3) Zfp365 (MGI:2143676)
chr10 62800000 73100000 10q21.3-q22.1 604185 HCFP2 Facial paresis, hereditary congenital, 2 MBS3 22811 Facial paresis, hereditary congenital, 2, 604185 (2), Autosomal dominant
chr10 62800000 80300000 10q21.3-q22.3 613339 HWE1 Epilepsy, hot water, 1 100415903 max lod at D10S412 Epilepsy, hot water, 1, 613339 (2), Autosomal dominant
chr10 62800000 68800000 10q21.3 614996 MSE Myelinating Schwann cell element 101180900
chr10 62804755 62808478 10q21.3 10q21.3 611392 ADO, C10orf22 2-aminoethanethiol dioxygenase ADO 84890 ENSG00000181915 Ado (MGI:2685083)
chr10 62811995 62819166 10q21.1-q22.1 10q21.3 129010 EGR2, KROX20 KROX-20, Drosophila, homolog of (early growth response-2) EGR2 1959 ENSG00000122877 Charcot-Marie-Tooth disease, type 1D, 607678 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; Neuropathy, congenital hypomyelinating, 1, 605253 (3), Autosomal recessive, Autosomal dominant Egr2 (MGI:95296)
chr10 63133246 63155030 10q21.3 10q21.3 616477 NRBF2, COPR Nuclear receptor-binding factor 2 NRBF2 29982 ENSG00000148572 Nrbf2 (MGI:1354950)
chr10 63167220 63522074 10q21.3 10q21.3 604503 JMJD1C, TRIP8, KIAA1380 Jumonji domain-containing protein 1C JMJD1C 221037 ENSG00000171988 Jmjd1c (MGI:1918614)
chr10 63521352 63625122 10q21.3 10q21.3 609348 REEP3, C10orf74 Receptor expression-enhancing protein 3 REEP3 221035 ENSG00000165476 Reep3 (MGI:88930)
chr10 65912517 67696216 10q21 10q21.3 607667 CTNNA3, ARVD13 Catenin, alpha-3 CTNNA3 29119 ENSG00000183230 Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3), Autosomal dominant Ctnna3 (MGI:2661445)
chr10 66926033 67101550 10q21.3 10q21.3 610869 LRRTM3 Leucine-rich repeat transmembrane protein 3 LRRTM3 347731 ENSG00000198739 Lrrtm3 (MGI:2389177)
chr10 67796664 67838186 10q21.1 10q21.3 606060 DNAJC12, JDP1, HPANBH4 DNAJ/HSP40 homolog, subfamily C, member 12 DNAJC12 56521 ENSG00000108176 Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive Dnajc12 (MGI:1353428)
chr10 67884668 67918389 10q21.3 10q21.3 604479 SIRT1, SIR2L1 Sirtuin, S. cerevisiae, homolog 1 SIRT1 23411 ENSG00000096717 Sirt1 (MGI:2135607)
chr10 68087906 68212016 10q21.1 10q21.3 608517 MYPN, CMD1DD, CMH22, RCM4, NEM11 Myopalladin MYPN 84665 ENSG00000138347 Cardiomyopathy, dilated, 1KK, 615248 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 4, 615248 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 22, 615248 (3), Autosomal dominant; Nemaline myopathy 11, autosomal recessive, 617336 (3), Autosomal recessive Mypn (MGI:1916052)
chr10 68230594 68232112 10q21.3-q22.1 10q21.3 609875 ATOH7, PHPVAR, NCRNA Atonal, Drosophila, homolog of, 7 ATOH7 220202 ENSG00000179774 Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3), Autosomal recessive Atoh7 (MGI:1355553)
chr10 68282659 68332957 10q21.1 10q21.3 612189 PBLD, MAWBP, MAWDBP Phenazine biosynthesis-like protein domain-containing protein PBLD 64081 ENSG00000108187 Pbld1 (MGI:1915621)
chr10 68331692 68343195 10q22 10q21.3 602324 HNRPH3, 2H9 Heterogeneous nuclear ribonucleoprotein H3 HNRNPH3 3189 ENSG00000096746 Hnrnph3 (MGI:1926462)
chr10 68341106 68407301 10q21.1 10q21.3 610328 RUFY2, KIAA1537 RUN and FYVE domains-containing protein 2 RUFY2 55680 ENSG00000204130 Rufy2 (MGI:1917682)
chr10 68414063 68472520 10q21.3-q22.1 10q21.3 601810 DNA2, DNA2L, KIAA0083, PEOA6, SCKL8 DNA replication helicase 2, yeast, homolog of DNA2 1763 ENSG00000138346 mutation identified in 1 SCKL8 family Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3), Autosomal dominant; ?Seckel syndrome 8, 615807 (3), Autosomal recessive Dna2 (MGI:2443732)
chr10 68482332 68527522 10q21.3-q22.1 10q21.3 139080 SLC25A16, D10S105E, GDA Solute carrier family 25 (mitochondrial carrier), member 16 (Graves disease autoantigen) SLC25A16 8034 ENSG00000122912 Slc25a16 (MGI:1920382)
chr10 68560359 68700793 10q22 10q21.3 607790 TET1, CXXC6, LCX, KIAA1676 tet oncogene 1 TET1 80312 ENSG00000138336 Tet1 (MGI:1098693)
chr10 68721143 68792376 10q21.3 10q21.3 612569 CCAR1, CARP1 Cell division cycle and apoptosis regulator 1 CCAR1 55749 ENSG00000060339 Ccar1 (MGI:1914750)
chr10 68800000 104000000 10q22-q24 608583 ATFB1 Atrial fibrillation, familial, 1 406216 Atrial fibrillation, familial, 1, 608583 (2), Autosomal dominant
chr10 68800000 95300000 10q22-q23 611706 MGR12 Migraine, with or without aura, susceptibility to, 12 100188851 max lod at 100cM {Migraine, with or without aura, susceptibility to, 12}, 611706 (2), Autosomal dominant
chr10 68800000 97500000 10q22.1-q24.1 609041 SPG27 Spastic paraplegia-27, autosomal recessive SPG27 414886 between D10S606 and D10S1758 Spastic paraplegia 27, autosomal recessive, 609041 (2), Autosomal recessive
chr10 68800000 80300000 10q22 611003 SQTL1 Smoking as a quantitative trait locus 1 100188827 near D10S1432 {Smoking as a quantitative trait locus 1}, 611003 (2)
chr10 68827536 68895941 10q22.1 10q22.1 609397 STOX1, PEE4 Storkhead box 1 STOX1 219736 ENSG00000165730 Preeclampsia/eclampsia 4, 609404 (3) Stox1 (MGI:2684909)
chr10 68898816 68956311 10q22.1 10q22.1 610373 DDX50, GUB DEAD/H box 50 DDX50 79009 ENSG00000107625 Ddx50 (MGI:2182303)
chr10 68956122 68985068 10q21 10q22.1 606357 DDX21 DEAD/H box 21 DDX21 9188 ENSG00000165732 Ddx21 (MGI:1860494)
chr10 68988720 69016982 10q22.1 10q22.1 609367 KIAA1279 KIAA1279 gene KIF1BP 26128 ENSG00000198954 Goldberg-Shprintzen megacolon syndrome, 609460 (3), Autosomal recessive Kif1bp (MGI:1919570)
chr10 69057532 69104810 10q22.1 10q22.1 177040 SRGN, PRG1, PRG Serglycin SRGN 5552 ENSG00000122862
chr10 69124152 69174415 10q21.1 10q22.1 605506 VPS26A, VPS26, HB58 Vacuolar protein sorting 26, yeast, homolog of, A VPS26A 9559 ENSG00000122958 Vps26a (MGI:1353654)
chr10 69180203 69209097 10q22.1 10q22.1 605122 SUPV3L1 Suv3-like 1 SUPV3L1 6832 ENSG00000156502 Supv3l1 (MGI:2441711)
chr10 69220302 69267558 10q22.1 10q22.1 617221 HKDC1 Hexokinase domain-containing protein 1 HKDC1 80201 ENSG00000156510 Hkdc1 (MGI:2384910)
chr10 69269990 69401881 10q22 10q22.1 142600 HK1, HKD, HMSNR, RP79 Hexokinase-1 HK1 3098 ENSG00000156515 10p11.2 conflicting assignment; ?2 loci on chr.10 Hemolytic anemia due to hexokinase deficiency, 235700 (3), Autosomal recessive; Neuropathy, hereditary motor and sensory, Russe type, 605285 (3), Autosomal recessive; Retinitis pigmentosa 79, 617460 (3), Autosomal dominant Hk1 (MGI:96103)
chr10 69404201 69416917 10q11-q21 10q22.1 162321 TACR2, TAC2R, NKNAR Tachykinin receptor 2 (substance K receptor; neurokinin 2 receptor) TACR2 6865 ENSG00000075073 Tacr2 (MGI:98477)
chr10 69451463 69549507 10q22.1 10q22.1 613140 TSPAN15, NET7 Tetraspanin 15 TSPAN15 23555 ENSG00000099282 Tspan15 (MGI:1917673)
chr10 69571439 69573453 10q21.3 10q22.1 604882 NEUROG3, NGN3, ATOH5 Neurogenin 3 NEUROG3 50674 ENSG00000122859 Diarrhea 4, malabsorptive, congenital, 610370 (3), Autosomal recessive Neurog3 (MGI:893591)
chr10 69801834 69959147 10q22 10q22.1 120350 COL13A1, CMS19 Collagen XIII, alpha-1 polypeptide COL13A1 1305 ENSG00000197467 ~550kb proximal to P4HA Myasthenic syndrome, congenital, 19, 616720 (3), Autosomal recessive Col13a1 (MGI:1277201)
chr10 70052600 70112283 10q22.3 10q22.1 616141 H2AFY2 H2A histone family, member Y2 H2AFY2 55506 ENSG00000099284 H2afy2 (MGI:3037658)
chr10 70137980 70146739 10q22.1 10q22.1 611017 TYSND1 Trypsin domain-containing protein 1 TYSND1 219743 ENSG00000156521 Tysnd1 (MGI:1919017)
chr10 70150203 70170528 10q22.1 10q22.1 607691 SARA1, SAR1A Sar1a, S. cerevisiae, homolog 1 SAR1A 56681 ENSG00000079332 Sar1a (MGI:98230)
chr10 70202829 70233433 10q21.3 10q22.1 179030 PP Inorganic pyrophosphatase PPA1 5464 ENSG00000180817 Ppa1 (MGI:97831)
chr10 70254956 70283693 10q21 10q22.1 607448 NPFF1 Neuropeptide FF1 NPFFR1 64106 ENSG00000148734 Npffr1 (MGI:2685082)
chr10 70404104 70428617 10q21-q22 10q22.1 602224 EIF4EBP2, 4EBP2 Eukaryotic translation initiation factor-4E binding protein-1 EIF4EBP2 1979 ENSG00000148730 Eif4ebp2 (MGI:109198)
chr10 70431935 70447947 10q22.1 10q22.1 601265 NODAL, HTX5 Nodal, mouse, homolog of NODAL 4838 ENSG00000156574 Heterotaxy, visceral, 5, 270100 (3), Autosomal dominant Nodal (MGI:97359)
chr10 70458541 70568449 10q22.1 10q22.1 614656 KIAA1274, PALD Paladin, mouse, homolog of PALD1 27143 ENSG00000107719 Pald1 (MGI:1351623)
chr10 70597347 70602787 10q22 10q22.1 170280 PRF1, HPLH2, FLH2 Perforin PRF1 5551 ENSG00000180644 mistakenly assigned to chr.17 Aplastic anemia, 609135 (3); Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3), Autosomal recessive; Lymphoma, non-Hodgkin, 605027 (3) Prf1 (MGI:97551)
chr10 70672505 70762440 10q22.1 10q22.1 607506 ADAMTS14 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 14 ADAMTS14 140766 ENSG00000138316 Adamts14 (MGI:2179942)
chr10 70771236 70785418 10q22.1 10q22.1 612640 C10orf27 chromosome 10 open reading frame 27 TBATA 219793 ENSG00000166220 Tbata (MGI:1923820)
chr10 70815919 70881188 10q22.1 10q22.1 603729 SGPL1, SPL, NPHS14 Sphingosine-1-phosphate lyase 1 SGPL1 8879 ENSG00000166224 Nephrotic syndrome 14, 617575 (3), Autosomal recessive Sgpl1 (MGI:1261415)
chr10 70882279 70888785 10q22 10q22.1 126090 PCBD1, DCOH Pterin-4a-carbinolamine dehydratase 1 PCBD1 5092 ENSG00000166228 Hyperphenylalaninemia, BH4-deficient, D, 264070 (3), Autosomal recessive Pcbd1 (MGI:94873)
chr10 71212534 71302878 10q21-q22 10q22.1 607870 UNC5B, UNC5H2 Unc5, C. elegans, homolog of, B UNC5B 219699 ENSG00000107731 Unc5b (MGI:894703)
chr10 71319252 71363389 10q22.1 10q22.1 612373 SLC29A3, ENT3, PHID, HCLAP Solute carrier family 29 (nucleoside transporter), member 3 SLC29A3 55315 ENSG00000198246 Histiocytosis-lymphadenopathy plus syndrome, 602782 (3), Autosomal recessive Slc29a3 (MGI:1918529)
chr10 71396933 71815946 10q21-q22 10q22.1 605516 CDH23, USH1D, DFNB12, PITA5 Cadherin-23 (otocadherin) CDH23 64072 ENSG00000107736 between D10S529 and D10S573 Deafness, autosomal recessive 12, 601386 (3), Autosomal recessive; {Pituitary adenoma 5, multiple types}, 617540 (3), Autosomal dominant; Usher syndrome, type 1D, 601067 (3), Autosomal recessive, Digenic recessive; Usher syndrome, type 1D/F digenic, 601067 (3), Autosomal recessive, Digenic recessive Cdh23 (MGI:1890219)
chr10 71747555 71773579 10q22.1 10q22.1 615608 C10orf54, B7H5 Chromosome 10 open reading frame 54 VSIR 64115 ENSG00000107738 Vsir (MGI:1921298)
chr10 71816282 71851374 10q22.1 10q22.1 176801 PSAP, SAP1 Prosaposin (sphingolipid activator protein-1) PSAP 5660 ENSG00000197746 Combined SAP deficiency, 611721 (3), Autosomal recessive; Gaucher disease, atypical, 610539 (3); Krabbe disease, atypical, 611722 (3), Autosomal recessive; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3), Autosomal recessive Psap (MGI:97783)
chr10 71964361 72013563 10q22.1 10q22.1 603799 CHST3, C6ST, C6ST1, HSD Carbohydrate sulfotransferase 3 CHST3 9469 ENSG00000122863 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3), Autosomal recessive Chst3 (MGI:1858224)
chr10 72059033 72095312 10q21-q23 10q22.1 607988 SPOCK2, KIAA0275 SPARC/osteonectin, CWCV, and KAZAL-like domains proteoglycan 2 SPOCK2 9806 ENSG00000107742 Spock2 (MGI:1891351)
chr10 72096031 72218776 10q22.1 10q22.1 614215 ASCC1, p50, SMABF2 Activating signal cointegrator 1 complex, subunit 1 ASCC1 51008 ENSG00000138303 mutation identified in 1 SMABF2 family Barrett esophagus/esophageal adenocarcinoma, 614266 (3); ?Spinal muscular atrophy with congenital bone fractures 2, 616867 (3), Autosomal recessive Ascc1 (MGI:1916340)
chr10 72215999 72235859 10q22.1 10q22.1 613427 ANAPC16, MSAG, C10orf104 Anaphase-promoting complex, subunit 16 ANAPC16 119504 ENSG00000166295 Anapc16 (MGI:1289325)
chr10 72273918 72276035 10q24.33 10q22.1 607729 DDIT4, REDD1, RTP801 DNA damage-inducible transcript 4 DDIT4 54541 ENSG00000168209 Ddit4 (MGI:1921997)
chr10 72332829 72355148 10q22.2 10q22.1 608376 DNAJB12, DJ10, FLJ0027 DNAJ, E. coli, homolog of, subfamily B, member 12 DNAJB12 54788 ENSG00000148719 Dnajb12 (MGI:1931881)
chr10 72367325 72626190 10q22.1 10q22.1 605084 MICU1, CBARA1, MPXPS Mitochondrial calcium uptake protein 1 MICU1 10367 ENSG00000107745 Myopathy with extrapyramidal signs, 615673 (3), Autosomal recessive Micu1 (MGI:2384909)
chr10 72692130 72887693 10q22.1 10q22.1 614197 MCU, CCDC109A Mitochondrial calcium uniporter MCU 90550 ENSG00000156026 Mcu (MGI:3026965)
chr10 72893555 72933035 10q21.3 10q22.1 609330 OIT3, LZP Oncoprotein-induced transcript 3, mouse, homolog of OIT3 170392 ENSG00000138315 Oit3 (MGI:1201782)
chr10 72934761 72955043 10q22.1 10q22.1 611653 PLA2G12B, GXIIB Phospholipase A2, group XIIB PLA2G12B 84647 ENSG00000138308 Pla2g12b (MGI:1917086)
chr10 73007216 73096973 10q21.3-q23.1 10q22.1 176710 P4HA1, P4HA Procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide 1 P4HA1 5033 ENSG00000122884 P4ha1 (MGI:97463)
chr10 73134523 73168094 10q22.2 10q22.2 616464 ECD, SGT1 Ecdysoneless, Drosophila, homolog of ECD 11319 ENSG00000122882 Ecd (MGI:1917851)
chr10 73241953 73247330 10q22.2 10q22.2 611206 DNAJC9, JDD1, KIAA0974 DNAJ/HSP40 homolog, subfamily C, member 9 DNAJC9 23234 ENSG00000213551 Dnajc9 (MGI:1915326)
chr10 73248842 73252692 10q22.1 10q22.2 609204 MRPS16, COXPD2 Mitochondrial ribosomal protein S16 MRPS16 51021 ENSG00000182180 Combined oxidative phosphorylation deficiency 2, 610498 (3), Autosomal recessive Mrps16 (MGI:1913492)
chr10 73375100 73414084 10q21.1-q21.2 10q22.2 186360 ANXA7, SNX Annexin A7 (synexin) ANXA7 310 ENSG00000138279 Anxa7 (MGI:88031)
chr10 73423578 73433560 10q22.2 10q22.2 614773 MSS51, ZMYND17 MSS51 mitochondrial translational activator, S. cerevisiae, homolog of MSS51 118490 ENSG00000166343 Mss51 (MGI:1922093)
chr10 73436427 73496023 10q21-q22 10q22.2 114106 PPP3CB, CALNB Protein phosphatase-3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta) PPP3CB 5532 ENSG00000107758 Ppp3cb (MGI:107163)
chr10 73631611 73641756 10q22.1 10q22.2 605603 MYOZ1 Myozenin 1 (calsarcin 2) MYOZ1 58529 ENSG00000177791 Myoz1 (MGI:1929471)
chr10 73744163 73772174 10q22.2 10q22.2 607185 SEC24C, KIAA0079 Sec24-related gene family, member C SEC24C 9632 ENSG00000176986 Sec24c (MGI:1919746)
chr10 73801910 73811848 10q22 10q22.2 603268 NDST2 N-deacetylase/N-sulfotransferase 2 NDST2 8509 ENSG00000166507 in intron of PCDH15 Ndst2 (MGI:97040)
chr10 73812500 73874590 10q22 10q22.2 602123 CAMK2G, CAMKG Calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma CAMK2G 818 ENSG00000148660 in intron of PCDH15 Camk2g (MGI:88259)
chr10 73909181 73917500 10q24 10q22.2 191840 PLAU, URK, QPD, BDPLT5 Plasminogen activator, urokinase PLAU 5328 ENSG00000122861 proximal to HOX11 {Alzheimer disease, late-onset, susceptibility to}, 104300 (3), Autosomal dominant; Quebec platelet disorder, 601709 (3), Autosomal dominant Plau (MGI:97611)
chr10 73998113 74120159 10q22.1-q23 10q22.2 193065 VCL, CMD1W, CMH15 Vinculin VCL 7414 ENSG00000035403 Cardiomyopathy, dilated, 1W, 611407 (3); Cardiomyopathy, hypertrophic, 15, 613255 (3), Autosomal dominant Vcl (MGI:98927)
chr10 74120011 74151084 10q22.2 10q22.2 610366 AP3M1 Adaptor-related protein complex 3, mu-1 subunit AP3M1 26985 ENSG00000185009 Ap3m1 (MGI:1929212)
chr10 74151184 74709302 10q11-q24 10q22.2 102750 ADK Adenosine kinase ADK 132 ENSG00000156110 Hypermethioninemia due to adenosine kinase deficiency, 614300 (3), Autosomal recessive Adk (MGI:87930)
chr10 74824926 75032622 10q22 10q22.2 605880 KAT6B, MYST4, MORF, GTPTS Lysine acetyltransferase 6B KAT6B 23522 ENSG00000156650 Genitopatellar syndrome, 606170 (3), Autosomal dominant; SBBYSS syndrome, 603736 (3), Autosomal dominant
chr10 75094431 75109220 10q22.2 10q22.2 613191 DUSP13, TMDP, MDSP Dual-specificity phosphatase 13 DUSP13 51207 ENSG00000079393 Dusp13 (MGI:1351599)
chr10 75099574 75182122 10q22.2 10q22.2 611575 SAMD8, SMSR Sterile alpha motif domain-containing 8 SAMD8 142891 ENSG00000156671 Samd8 (MGI:1914880)
chr10 75210153 75231447 10q22 10q22.2 193245 VDAC2 Voltage-dependent anion channel 2 VDAC2 7417 ENSG00000165637 Vdac2 (MGI:106915)
chr10 75279725 75401893 10q22.2 10q22.2 613902 ZNF503, NOLZ1 Zinc finger protein 503 ZNF503 84858 ENSG00000165655 Zfp503 (MGI:1353644)
chr10 75431645 76557374 10q22.3 10q22.2-q22.3 614537 C10orf11, OCA7 Chromosome 10 open reading frame 11 LRMDA 83938 ENSG00000148655 Albinism, oculocutaneous, type VII, 615179 (3), Autosomal recessive Lrmda (MGI:1923883)
chr10 75900000 80300000 10q22.3 608078 SCZD11 Schizophrenia susceptibility locus, chromosome 10q-related 404686 between D10S1677 and D10S1753 {Schizophrenia}, 181500 (2), Autosomal dominant
chr10 75900000 80300000 10q22.3 607965 SLEN1 Systemic lupus erythematosus with nephritis, susceptibility to, 1 SLEN1 192677 {Systemic lupus erythematosus with nephritis, susceptibility to, 1}, 607965 (2)
chr10 75900000 80300000 10q22.3 612388 SS3 Sarcoidosis, susceptibility to, 3 100196919 associated with rs2789679 and rs1049550 {Sarcoidosis, susceptibility to, 3}, 612388 (2)
chr10 76869600 77637968 10q22.3 10q22.3 600150 KCNMA1, SLO, PNKD3, CADEDS Potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (slowpoke, Drosophila, homolog of) KCNMA1 3778 ENSG00000156113 mutation identified in 1 CADEDS family ?Cerebellar atrophy, developmental delay, and seizures, 617643 (3), Autosomal recessive; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3), Autosomal dominant Kcnma1 (MGI:99923)
chr10 77790786 77926589 10q23 10q22.3 604090 DLG5, PDLG, KIAA0583 Discs large, Drosophila, homolog of, 5 DLG5 9231 ENSG00000151208 Dlg5 (MGI:1918478)
chr10 77975148 78029539 10q22.3 10q22.3 614258 POLR3A, RPC1, RPC155, ADDH, HLD7 Polymerase III, RNA, subunit A POLR3A 11128 ENSG00000148606 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3), Autosomal recessive Polr3a (MGI:2681836)
chr10 78033759 78056812 10q22-q23 10q22.3 602412 RPS24, DBA3 Ribosomal protein S24 RPS24 6229 ENSG00000138326 Diamond-blackfan anemia 3, 610629 (3), Autosomal dominant Rps24 (MGI:98147)
chr10 79068993 79316527 10q22.1-q22.3 10q22.3 607159 RAI17, KIAA1224, ZIMP10 Retinoic acid-induced gene 17 ZMIZ1 57178 ENSG00000108175 Zmiz1 (MGI:3040693)
chr10 79347463 79355333 10q22-q23 10q22.3 604486 PPIF, CYP3 Peptidylprolyl-cis-trans-isomerase, mitochondrial PPIF 10105 ENSG00000108179 Ppif (MGI:2145814)
chr10 79555851 79560460 10q22-q23 10q22.3 178642 SFTPA2, SPA2, COLEC5 Surfactant, pulmonary-associated protein A2 SFTPA2 729238 ENSG00000185303 contiguous with SFTPA1 Pulmonary fibrosis, idiopathic, 178500 (3), Autosomal dominant
chr10 79610938 79615442 10q22.2-q23.1 10q22.3 178630 SFTPA1, SFTP1 Surfactant, pulmonary-associated protein A1 SFTPA1 653509 ENSG00000122852 contiguous with SFTPA2 Sftpa1 (MGI:109518)
chr10 79937739 79982235 10q23.3 10q22.3 178635 SFTPD, SFTP4 Surfactant, pulmonary-associated protein D SFTPD 6441 ENSG00000133661 Sftpd (MGI:109515)
chr10 80131682 80145063 10q22.3 10q22.3 612857 PLAC9 Placenta-specific gene 9 PLAC9 219348 ENSG00000189129
chr10 80153952 80205676 10q22.3-q23.1 10q22.3 602572 ANXA11, ANX11, ALS23 Annexin A11 (annexin XI) ANXA11 311 ENSG00000122359 Amytrophic lateral sclerosis 23, 617839 (3), Autosomal dominant Anxa11 (MGI:108481)
chr10 80271819 80289677 10q22 10q22.3 610550 MAT1A, MATA1, SAMS1 Methionine adenosyltransferase I, alpha MAT1A 4143 ENSG00000151224 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3), Autosomal recessive, Autosomal dominant; Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3), Autosomal recessive, Autosomal dominant Mat1a (MGI:88017)
chr10 80300000 104000000 10q23-q24 611920 CPROTQ C-reactive protein QTL 100188860 max lod at D10S1239 [C-reactive protein QTL], 611920 (2)
chr10 80300000 95300000 10q23 612242 DEL10q23, C10DELq23 Chromosome 10q22.3-q23.2 deletion syndrome Chromosome 10q22.3-q23.2 deletion syndrome, 612242 (4)
chr10 80300000 104000000 10q23-q24 612288 IBD20 Inflammatory bowel disease 20 100190788 associated with rs11190140 {Inflammatory bowel disease 20}, 612288 (2)
chr10 80336012 80356786 10q23.1 10q23.1 615154 DYDC1 DPY30 domain-containing protein 1 DYDC1 143241 ENSG00000170788 Dydc1 (MGI:1916746)
chr10 80407828 80437114 10q23.1 10q23.1 617165 FAM213A, PAMM Family with sequence similarity 213, member A FAM213A 84293 ENSG00000122378 Fam213a (MGI:1917814)
chr10 81875189 82989978 10q22 10q23.1 605533 NRG3 Neuregulin 3 NRG3 10718 ENSG00000185737 Nrg3 (MGI:1097165)
chr10 84167227 84172075 10q23.1 10q23.1 617434 HOST2 Long noncoding RNA HOST2 CERNA2 642934
chr10 84173763 84185293 10q23.1 10q23.1 617775 C10orf99, CSBF, AP57 Chromosome 10 open reading frame 99 C10orf99 387695 ENSG00000188373
chr10 84194634 84219620 10q23.1 10q23.1 609502 CDHR1, PCDH21, PRCAD, CORD15, RP65 Cadherin-related family, member 1 CDHR1 92211 ENSG00000148600 Cone-rod dystrophy 15, 613660 (3), Autosomal recessive; Retinitis pigmentosa 65, 613660 (3), Autosomal recessive Cdhr1 (MGI:2157782)
chr10 84231519 84241460 10q23.1 10q23.1 616103 LRIT1, PAL Leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein 1 LRIT1 26103 ENSG00000148602 REc, A Lrit1 (MGI:2385320)
chr10 84243740 84259187 10q23 10q23.1 600342 RGR, RP44 Retinal G protein coupled receptor RGR 5995 ENSG00000148604 Retinitis pigmentosa 44, 613769 (3) Rgr (MGI:1929473)
chr10 85599554 86366492 10q22 10q23.1-q23.2 610659 GRID1, KIAA1220 Glutamate receptor, inotropic, delta 1 GRID1 2894 ENSG00000182771 Grid1 (MGI:95812)
chr10 86264693 86264787 10q23.2 10q23.2 611190 MIR346 Micro RNA 346 MIR346 442911
chr10 86435255 86521815 10q23.2 10q23.2 610754 WAPAL, KIAA0261, FOE, WAPL Wings apart-like protein, Drosophila, homolog of WAPL 23063 ENSG00000062650 Wapl (MGI:2675859)
chr10 86653494 86666459 10q23.2 10q23.2 606665 OPN4 Opsin 4 OPN4 94233 ENSG00000122375 Opn4 (MGI:1353425)
chr10 86664784 86736071 10q22.2-q23.3 10q23.2 605906 LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3 LIM domain binding 3 LDB3 11155 ENSG00000122367 Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 24, 601493 (3), Autosomal dominant; Left ventricular noncompaction 3, 601493 (3), Autosomal dominant; Myopathy, myofibrillar, 4, 609452 (3), Autosomal dominant Ldb3 (MGI:1344412)
chr10 86755785 86927968 10q22.3 10q23.2 601299 BMPR1A, ACVRLK3, ALK3 Bone morphogenetic protein receptor, type IA BMPR1A 657 ENSG00000107779 Juvenile polyposis syndrome, infantile form, 174900 (3), Autosomal dominant; Polyposis syndrome, hereditary mixed, 2, 610069 (3); Polyposis, juvenile intestinal, 174900 (3), Autosomal dominant Bmpr1a (MGI:1338938)
chr10 86955800 86963259 10q23.2-q23.3 10q23.2 602998 SNCG, BCSG1 Synuclein, gamma (breast cancer-specific gene 1) SNCG 6623 ENSG00000173267 Sncg (MGI:1298397)
chr10 87050201 87095046 10q23.3 10q23.2 138130 GLUD1 Glutamate dehydrogenase-1 GLUD1 2746 ENSG00000148672 pseudogene on Xq26-q28 Hyperinsulinism-hyperammonemia syndrome, 606762 (3), Autosomal dominant Glud1 (MGI:95753)
chr10 87504465 87553460 10q23 10q23.2 605391 MINPP1, HIPER1 Multiple inositol polyphosphate phosphatase 1 MINPP1 9562 ENSG00000107789 Thyroid carcinoma, follicular, 188470 (3), Autosomal dominant Minpp1 (MGI:1336159)
chr10 87659718 87747704 10q22-q24 10q23.2-q23.3 603005 PAPSS2, ATPSK2, BCYM4 3'-phosphoadenosine 5'-phosphosulfate synthase 2 PAPSS2 9060 ENSG00000198682 Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3), Autosomal recessive Papss2 (MGI:1330223)
chr10 87700000 91100000 10q23.31 613006 IDDM24 Diabetes mellitus, insulin-dependent, 24 100303715 associated with rs10509540 {Diabetes mellitus, insulin-dependent, 24}, 613006 (2)
chr10 87700000 95300000 10q23.3 609578 RCM2 Cardiomyopathy, familial restrictive, 2 619468 max lod at D10S1242 Cardiomyopathy, familial restrictive, 2, 609578 (2)
chr10 87751511 87841358 10q23.31 10q23.31 614452 ATAD1, THORASE ATPase family, AAA domain-containing, member 1 ATAD1 84896 ENSG00000138138 Atad1 (MGI:1915229)
chr10 87859160 87863436 10q23 10q23.31 612105 KLLN, CWS4 Killin KLLN 100144748 ENSG00000227268 Cowden syndrome 4, 615107 (3)
chr10 87863437 87971929 10q23.31 10q23.31 601728 PTEN, MMAC1, GLM2, CWS1 Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) PTEN 5728 ENSG00000171862 Bannayan-Riley-Ruvalcaba syndrome, 153480 (3), Autosomal dominant; Cowden syndrome 1, 158350 (3), Autosomal dominant; Endometrial carcinoma, somatic, 608089 (3); {Glioma susceptibility 2}, 613028 (3); Lhermitte-Duclos syndrome, 158350 (3), Autosomal dominant; Macrocephaly/autism syndrome, 605309 (3), Autosomal dominant; Malignant melanoma, somatic, 155600 (3); {Meningioma}, 607174 (3), Autosomal dominant; PTEN hamartoma tumor syndrome (3); {Prostate cancer, somatic}, 176807 (3); Squamous cell carcinoma, head and neck, somatic, 275355 (3); VATER association with macrocephaly and ventriculomegaly, 276950 (3), Autosomal recessive Pten (MGI:109583)
chr10 88176051 88584479 10q23.33 10q23.31 609360 RNLS, C10orf59 Renalase RNLS 55328 ENSG00000184719 Rnls (MGI:1915045)
chr10 88583276 88623160 10q23.31 10q23.31 613921 LIPJ, LIPL1 Lipase J LIPJ 142910 ENSG00000204022
chr10 88664388 88678814 10q23.31 10q23.31 601980 LIPF Lipase F, gastric type LIPF 8513 ENSG00000182333 Lipf (MGI:1914967)
chr10 88706224 88753091 10q23.31 10q23.31 613922 LIPK, LIPL2 Lipase family, member K LIPK 643414 ENSG00000204021 Lipk (MGI:2679259)
chr10 88757225 88783661 10q23.31 10q23.31 613924 LIPN, LIPL4, ARCI8, LI4 Lipase family, member N LIPN 643418 ENSG00000204020 Ichthyosis, congenital, autosomal recessive 8, 613943 (3), Autosomal recessive Lipn (MGI:1917416)
chr10 88802729 88822021 10q23.31 10q23.31 613923 LIPM, LIPL3 Lipase family, member M LIPM 340654 ENSG00000173239 Lipm (MGI:1926003)
chr10 88879367 88923501 10q23 10q23.31 612352 STAMBPL1, KIAA1373 STAM-binding protein-like 1 STAMBPL1 57559 ENSG00000138134 Stambpl1 (MGI:1923880)
chr10 88935073 88991396 10q22-q24 10q23.31 102620 ACTA2, ACTSA, AAT6, MYMY5 Actin, alpha-2, smooth muscle, aorta ACTA2 59 ENSG00000107796 Aortic aneurysm, familial thoracic 6, 611788 (3), Autosomal dominant; Moyamoya disease 5, 614042 (3); Multisystemic smooth muscle dysfunction syndrome, 613834 (3), Autosomal dominant Acta2 (MGI:87909)
chr10 88968428 89017060 10q24.1 10q23.31 134637 FAS, TNFRSF6, APT1, CD95, ALPS1A Fas cell surface death receptor FAS 355 ENSG00000026103 Autoimmune lymphoproliferative syndrome, type IA, 601859 (3), Autosomal dominant; {Autoimmune lymphoproliferative syndrome}, 601859 (3), Autosomal dominant; Squamous cell carcinoma, burn scar-related, somatic (3) Fas (MGI:95484)
chr10 89205936 89207313 10q23 10q23.31 604551 CH25H Cholesterol 25-hydroxylase CH25H 9023 ENSG00000138135 Ch25h (MGI:1333869)
chr10 89213568 89252038 10q23.31 10q23.31 613497 LIPA, CESD Lipase A, lysosomal acid, cholesterol esterase LIPA 3988 ENSG00000107798 ?close to GOT Cholesteryl ester storage disease, 278000 (3), Autosomal recessive; Wolman disease, 278000 (3), Autosomal recessive Lipa (MGI:96789)
chr10 89301948 89309275 10q23.3 10q23.31 147040 IFIT2, IFI54, G10P2 Interferon-induced protein with tetratricopeptide repeats 2 IFIT2 3433 ENSG00000119922 Ifit2 (MGI:99449)
chr10 89327818 89340967 10q23.3 10q23.31 604650 IFIT4 Interferon-induced protein with tetratricopeptide repeats 4 IFIT3 3437 ENSG00000119917 Ifit3b,Ifit3 (MGI:1101055,MGI:3698419)
chr10 89392545 89406486 10q23.3 10q23.31 147690 IFIT1, IFI56, G10P1, IFNAI1 Interferon-induced protein with tetratricopeptide repeats 1 IFIT1 3434 ENSG00000185745 10q25-q26 = conflicting site Ifit1bl1,Ifit1bl2 (MGI:2148249,MGI:3650685)
chr10 89414567 89421001 10q23.31 10q23.31 616135 IFIT5, RI58, ISG58 Interferon-induced protein with tetratricopeptide repeats 5 IFIT5 24138 ENSG00000152778
chr10 89430293 89536028 10q23.3 10q23.31 611910 SLC16A12, MCT12, CTRCT47 Solute carrier family 16 (monocarboxylic acid transporter), member 12 SLC16A12 387700 ENSG00000152779 mutation identified in 1 CTRCT47 family Cataract 47, juvenile, with microcornea, 612018 (3), Autosomal dominant Slc16a12 (MGI:2147716)
chr10 89579496 89645571 10q23 10q23.31 606160 PANK1 Pantothenate kinase 1 PANK1 53354 ENSG00000152782 Pank1 (MGI:1922985)
chr10 89592746 89592826 10q23.31 10q23.31 613189 MIR107, MIRN107 Micro RNA 107 MIR107 406901
chr10 89701589 89774942 10q22-q24 10q23.31 605498 MPHOSPH1, MPP1 M-phase phosphoprotein 1 KIF20B 9585 ENSG00000138182 Kif20b (MGI:2444576)
chr10 90738692 90857913 10q21-q24 10q23.31 182137 HTR7 5-hydroxytryptamine (serotonin) receptor-7, adenylate cyclase-coupled HTR7 3363 ENSG00000148680 Htr7 (MGI:99841)
chr10 90871951 90908554 10q23.31 10q23.31 606115 RPP30 Ribonuclease P, 30kD subunit RPP30 10556 ENSG00000148688 Rpp30 (MGI:1859683)
chr10 90912099 90921274 10q23.31 10q23.31 609599 ANKRD1, CARP Ankyrin repeat domain-containing protein 1 ANKRD1 27063 ENSG00000148677 Ankrd1 (MGI:1097717)
chr10 91162401 91284330 10q23.32 10q23.32 617407 PCGF5 Polycomb group ring finger protein 5 PCGF5 84333 ENSG00000180628 Pcgf5 (MGI:1923505)
chr10 91628440 91633100 10q23-q24 10q23.32 602999 PPP1R3C, PPP1R5 Phosphatase 1, regulatory subunit 3C PPP1R3C 5507 ENSG00000119938 Ppp1r3c (MGI:1858229)
chr10 91923769 92030997 10q22-q23 10q23.32 605191 BTAF1, TAFII170, TAF172, MOT1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kD (Mot1, S. cerevisiae, homolog of) BTAF1 9044 ENSG00000095564 Btaf1 (MGI:2147538)
chr10 92046691 92291498 10q23.3 10q23.32 610606 CPEB3, KIAA0940 Cytoplasmic polyadenylation element-binding protein 3 CPEB3 22849 ENSG00000107864 Cpeb3 (MGI:2443075)
chr10 92291162 92353963 10q23.3 10q23.32-q23.33 610637 MARCH5 Membrane-associated RING-CH finger protein 5 MARCH5 54708 ENSG00000198060 March5 (MGI:1915207)
chr10 92451683 92574094 10q23-q25 10q23.33 146680 IDE Insulin-degrading enzyme IDE 3416 ENSG00000119912 Ide (MGI:96412)
chr10 92593067 92655394 10q23.33 10q23.33 148760 KIF11, KNSL1, MCLMR Kinesin family member 11 KIF11 3832 ENSG00000138160 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3), Autosomal dominant Kif11 (MGI:1098231)
chr10 92689923 92695650 10q24 10q23.33 604420 HHEX, PRHX, PRH Hematopoietically expressed homeo box HHEX 3087 ENSG00000152804 Hhex (MGI:96086)
chr10 92826830 93059493 10q23.33 10q23.33 609672 EXOC6, SEC15L1, SEC15L, SEC15 Exocyst complex component 6 EXOC6 54536 ENSG00000138190 Exoc6 (MGI:1351611)
chr10 93061263 93068696 10q23.3 10q23.33 608428 CYP26C1, FFDD4 Cytochrome P450, subfamily XXVIC, polypeptide 1 CYP26C1 340665 ENSG00000187553 Focal facial dermal dysplasia 4, 614974 (3), Autosomal recessive Cyp26c1 (MGI:2679699)
chr10 93073474 93077883 10q23-q24 10q23.33 602239 CYP26A1 Cytochrome p450, subfamily XXVIA, polypeptide 1 CYP26A1 1592 ENSG00000095596 Cyp26a1 (MGI:1096359)
chr10 93306428 93482504 10q24 10q23.33 604603 MYOF, FER1L3 Myoferlin MYOF 26509 ENSG00000138119 Myof (MGI:1919192)
chr10 93496611 93529093 10q23.33 10q23.33 610000 CEP55, MARCH Centrosomal protein, 55kD CEP55 55165 ENSG00000138180 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3), Autosomal recessive Cep55 (MGI:1921357)
chr10 93566177 93590071 10q23.33 10q23.33 609044 FFAR4, O3FAR1, GPR120, PGR4, BMIQ10 Free fatty acid receptor 4 FFAR4 338557 ENSG00000186188 {Obesity, susceptibility to}, 607514 (3) Ffar4 (MGI:2147577)
chr10 93591835 93601743 10q24 10q23.33 180250 RBP4, RDCCAS, MCOPCB10 Retinol-binding protein-4, interstitial RBP4 5950 ENSG00000138207 just centromeric of CYP2C cluster Microphthalmia, isolated, with coloboma 10, 616428 (3), Autosomal dominant; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3), Autosomal recessive Rbp4 (MGI:97879)
chr10 93612587 93665672 10q24 10q23.33 600827 PDE6C, PDEA2, COD4 Phosphodiesterase-6C, cGMP-specific, cone, alpha prime PDE6C 5146 ENSG00000095464 Cone dystrophy 4, 613093 (3), Autosomal recessive Pde6c (MGI:105956)
chr10 93667882 93702958 10q23.33 10q23.33 608866 C10orf4, FRA10AC1, FRA10A Chromosome 10 open reading frame 4 FRA10AC1 118924 ENSG00000148690 Fra10ac1 (MGI:1917817)
chr10 93757808 93798173 10q24 10q23.33 604619 LGI1, EPT, ETL1, ADLTE, ADPEAF Leucine-rich gene, glioma-inactivated, 1 LGI1 9211 ENSG00000108231 Epilepsy, familial temporal lobe, 1, 600512 (3), Autosomal dominant Lgi1 (MGI:1861691)
chr10 93893950 93914270 10q23.33 10q23.33 617167 SLC35G1, POST, TMEM20, C10orf60 Solute carrier family 35, member G1 SLC35G1 159371 ENSG00000176273 Slc35g1 (MGI:2444789)
chr10 93993988 94328391 10q23 10q23.33 608414 PLCE1, KIAA1516, NPHS3 Phospholipase C, epsilon-1 PLCE1 51196 ENSG00000138193 Nephrotic syndrome, type 3, 610725 (3), Autosomal recessive Plce1 (MGI:1921305)
chr10 94314906 94362975 10q24 10q23.33 610769 NOC3L, FAD24 Nucleolar complex-associated 3, S. cerevisiae, homolog of NOC3L 64318 ENSG00000173145 Noc3l (MGI:1932610)
chr10 94545766 94613904 10q23.3-q24.2 10q23.33 603946 HELLS, LSH, ICF4 Helicase, lymphoid-specific HELLS 3070 ENSG00000119969 Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3), Autosomal recessive Hells (MGI:106209)
chr10 94683493 94736189 10q23.33 10q23.33 601131 CYP2C18 Cytochrome P450, subfamily IIC, polypeptide 18 CYP2C18 1562 ENSG00000108242 Cyp2c55 (MGI:1919332)
chr10 94762680 94855550 10q24.1-q24.3 10q23.33 124020 CYP2C, CYP2C19 Cytochrome P450, subfamily IIC (mephenytoin 4'-hydroxylase) CYP2C19 1557 ENSG00000165841 4 genes in order: cen-C18-C19-C9-C8-tel Clopidogrel, impaired responsiveness to, 609535 (3), Autosomal recessive; Mephenytoin poor metabolizer, 609535 (3), Autosomal recessive; Omeprazole poor metabolizer, 609535 (3), Autosomal recessive; Proguanil poor metabolizer, 609535 (3), Autosomal recessive
chr10 94938657 94989390 10q24 10q23.33 601130 CYP2C9 Cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9 CYP2C9 1559 ENSG00000138109 Tolbutamide poor metabolizer (3); Warfarin sensitivity, 122700 (3), Autosomal dominant Cyp2c65,Cyp2c66 (MGI:1919553,MGI:1917138)
chr10 95036771 95069496 10q23.3 10q23.33 601129 CYP2C8 Cytochrome P450, subfamily IIc, polypeptide 8 CYP2C8 1558 ENSG00000138115 Rhabdomyolysis, cerivastatin-induced (3) Cyp2c29,Cyp2c38,Cyp2c39 (MGI:103238,MGI:1306818,MGI:1306819)
chr10 95237567 95291147 10q26 10q23.33 605900 PDLIM1, CLP36, CLIM1 PDZ and LIM domain protein 1 PDLIM1 9124 ENSG00000107438 Pdlim1 (MGI:1860611)
chr10 95300000 104000000 10q24 605526 AD6 Alzheimer disease 6 64851 Alzheimer disease 6, 605526 (2)
chr10 95300000 110100000 10q24.1-q25.1 606483 CMTDIA Charcot-Marie-Tooth disease, dominant intermediate A 387574 Charcot-Marie-Tooth disease, dominant intermediate A, 606483 (2), Autosomal dominant
chr10 95300000 104000000 10q24 246560 SHFM3, SHSF3, DUP10q24, C10DUPq24 Split-hand/foot malformation 3 (Chromosome 10q24 duplication syndrome) contiguous gene duplication syndrome Split-hand/foot malformation 3, gene duplication syndrome, 246560 (4), Autosomal dominant
chr10 95311772 95561438 10q23.3-q24.1 10q24.1 605264 SORBS1, SH3D5, SH3P12, KIAA1296 Sorbin and SH3 domain containing 1 SORBS1 10580 ENSG00000095637 Sorbs1 (MGI:700014)
chr10 95605928 95656900 10q24.3 10q24.1 138250 ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3 Aldehyde dehydrogenase 18 family, member A1 (1-pyrroline-5-carboxylate synthetase) ALDH18A1 5832 ENSG00000059573 GOT1 and GSAS in same pathway Cutis laxa, autosomal dominant 3, 616603 (3), Autosomal dominant; Cutis laxa, autosomal recessive, type IIIA, 219150 (3), Autosomal recessive, Isolated cases; Spastic paraplegia 9A, autosomal dominant, 601162 (3), Autosomal dominant; Spastic paraplegia 9B, autosomal recessive, 616586 (3), Autosomal recessive Aldh18a1 (MGI:1888908)
chr10 95663395 95694142 10q24.1 10q24.1 613847 TCTN3, TECT3, C10orf61, OFD4, JBTS18 Tectonic family, member 3 TCTN3 26123 ENSG00000119977 Joubert syndrome 18, 614815 (3), Autosomal recessive; Orofaciodigital syndrome IV, 258860 (3), Autosomal recessive Tctn3 (MGI:1914840)
chr10 95710900 95877265 10q24 10q24.1 601752 ENTPD1, CD39, SPG64 Ectonucleoside triphosphate diphosphohydrolase 1 (CD39 antigen) ENTPD1 953 ENSG00000138185 Spastic paraplegia 64, autosomal recessive, 615683 (3), Autosomal recessive Entpd1 (MGI:102805)
chr10 96128905 96205290 10q24.1 10q24.1 617733 ZNF518A, KIAA0335 Zinc finger protein 518A ZNF518A 9849 ENSG00000177853 Zfp518a (MGI:1919922)
chr10 96189170 96271575 10q23.2 10q24.1 604515 BLNK, SLP65, AGM4 B-cell linker protein (SH2 domain-containing leukocyte protein, 65kD) BLNK 29760 ENSG00000095585 mutation identified in 1 AGM4 family ?Agammaglobulinemia 4, 613502 (3), Autosomal recessive Blnk (MGI:96878)
chr10 96304327 96338563 10q23-q24 10q24.1 187410 DNTT, TDT Terminal deoxynucleotidyltransferase DNTT 1791 ENSG00000107447 Dntt (MGI:98659)
chr10 96343215 96359364 10q24 10q24.1 617200 OPALIN, TMEM10, TMP10 Oligodendrocytic myelin paranodal and inner loop protein OPALIN 93377 ENSG00000197430 Opalin (MGI:2657025)
chr10 96364605 96513925 10q23-q24 10q24.1 606743 TLL2, KIAA0932 Tolloid-like 2 TLL2 7093 ENSG00000095587 Tll2 (MGI:1346044)
chr10 96518109 96587051 10q24.1 10q24.1 616872 TM9SF3, SMBP Transmembrane 9 superfamily, member 3 TM9SF3 56889 ENSG00000077147 Tm9sf3 (MGI:1914262)
chr10 96593311 96720521 10q24.1 10q24.1 607942 PIK3AP1, BCAP, FLJ35564 Phosphoinositide 3-kinase adaptor protein 1 PIK3AP1 118788 ENSG00000155629 Pik3ap1 (MGI:1933177)
chr10 96832259 96986211 10q24.1 10q24.1 607698 LCOR, MLR2, KIAA1795 Ligand-dependent nuclear receptor corepressor LCOR 84458 ENSG00000196233 Lcor (MGI:2443930)
chr10 96998037 97185925 10q24.1 10q24.1 603742 SLIT1, SLIL1, MEGF4 Slit, Drosophila, homolog of, 1 SLIT1 6585 ENSG00000187122 Slit1 (MGI:1315203)
chr10 97222172 97292672 10q24.1 10q24.1 611587 ARHGAP19 RHO GTPase-activating protein 19 ARHGAP19 84986 ENSG00000213390 Arhgap19 (MGI:1918335)
chr10 97332496 97334700 10q24.1 10q24.1 605006 FRAT2 Frequently rearranged in advanced T-cell lymphomas 2 FRAT2 23401 ENSG00000181274 Frat2 (MGI:2673967)
chr10 97356700 97401369 10q24.1 10q24.1 617723 RRP12, KIAA0690 Ribosomal RNA-processing protein 12, S. cerevisiae, homolog of RRP12 23223 ENSG00000052749 Rrp12 (MGI:2147437)
chr10 97426124 97433443 10q25.3 10q24.1 172250 PGAM1 Phosphoglycerate mutase A, nonmuscle form PGAM1 5223 ENSG00000171314 Pgam1 (MGI:97552)
chr10 97435908 97446016 10q24.1 10q24.1 606493 EXOSC1, CSL4 Exosome component 1 EXOSC1 51013 ENSG00000171311 Exosc1 (MGI:1913833)
chr10 97446130 97457369 10q24 10q24.1 616750 ZDHHC16, APH2 Zinc finger DHHC domain-containing protein 16 ZDHHC16 84287 ENSG00000171307 Zdhhc16 (MGI:1921418)
chr10 97458323 97498793 10q24.1 10q24.1 614777 MMS19, MMS19L MMS19 nucleotide excision repair, S. Cerevisiae, homolog of MMS19 64210 ENSG00000155229 Mms19 (MGI:1919449)
chr10 97498881 97571209 10q24.1-q24.2 10q24.1-q24.2 616388 UBTD1 Ubiquitin domain-containing protein 1 UBTD1 80019 ENSG00000165886 Ubtd1 (MGI:2385092)
chr10 97572440 97583895 10q23.31-q23.32 10q24.2 610734 ANKRD2, ARPP Ankyrin repeat domain-containing protein 2 ANKRD2 26287 ENSG00000165887 Ankrd2 (MGI:1861447)
chr10 97584344 97612801 10q24.2 10q24.2 613597 HOGA1, DHDPSL, HP3 4-hydroxy-2-oxoglutarate aldolase 1 HOGA1 112817 ENSG00000241935 Hyperoxaluria, primary, type III, 613616 (3) Hoga1 (MGI:1914682)
chr10 97614552 97634155 10q24.2 10q24.2 617736 MORN4, RTP, UTA MORN repeat-containing protein 4 MORN4 118812 ENSG00000171160 Morn4 (MGI:2449568)
chr10 97640685 97676433 10q24 10q24.2 609763 PI4K2A Phosphatidylinositol 4-kinase type 2 alpha PI4K2A 55361 ENSG00000155252 Pi4k2a (MGI:1934031)
chr10 97713707 97718151 10q24.2 10q24.2 616970 MARVELD1, MARVD1 Marvel domain-containing protein 1 MARVELD1 83742 ENSG00000155254 Marveld1 (MGI:2147570)
chr10 97737120 97760906 10q24.2 10q24.2 610243 ZFYVE27, SPG33 Zinc finger FYVE domain-containing protein 27 ZFYVE27 118813 ENSG00000155256 Spastic paraplegia 33, autosomal dominant, 610244 (3), Autosomal dominant Zfyve27 (MGI:1919602)
chr10 97766750 97771998 10q24.1 10q24.2 604158 SFRP5, SARP3 Secreted frizzled-related protein 5 SFRP5 6425 ENSG00000120057 Sfrp5 (MGI:1860298)
chr10 97850237 97871577 10q22 10q24.2 614189 GOLGA7B, C10orf132 Golgin A7 family, member B GOLGA7B 401647 ENSG00000155265 Golga7b (MGI:1918396)
chr10 98247685 98268249 10q24 10q24.2 607318 LOXL4 Lysyl oxidate-like 4 LOXL4 84171 ENSG00000138131 Loxl4 (MGI:1914823)
chr10 98383564 98415220 10q24.2 10q24.2 617889 PYROXD2, C10orf33, YUEF Pyridine nucleotide-disulphide oxidoreductase domain-containing protein 2 PYROXD2 84795 ENSG00000119943 Pyroxd2 (MGI:1921830)
chr10 98416192 98446962 10q23.1 10q24.2 604982 HPS1 HPS gene 1 HPS1 3257 ENSG00000107521 Hermansky-Pudlak syndrome 1, 203300 (3), Autosomal recessive Hps1 (MGI:2177763)
chr10 98457076 99235874 10q23-q24 10q24.2 613469 HPSE2, HPA2, UFS1 Heparanase 2 HPSE2 60495 ENSG00000172987 Urofacial syndrome 1, 236730 (3), Autosomal recessive Hpse2 (MGI:2685814)
chr10 99329098 99394329 10q23-q24 10q24.2 607802 CNNM1, ACDP1 Cyclin M1 (ancient conserved domain protein 1) CNNM1 26507 ENSG00000119946 Cnnm1 (MGI:1891366)
chr10 99396869 99430772 10q24.1-q25.1 10q24.2 138180 GOT1, ASTQTL1 Glutamic-oxaloacetic transaminase-1, soluble (EC 2.6.1.1) GOT1 2805 ENSG00000120053 10q26.1 = conflicting localization Aspartate aminotransferase, serum level of, QTL1, 614419 (3) Got1 (MGI:95791)
chr10 99532932 99536523 10q24.2 10q24.2 606727 NKX2C, NK2.3, CSX3 NK2, Drosophila, homolog of, C NKX2-3 159296 ENSG00000119919 Nkx2-3 (MGI:97348)
chr10 99610517 99659506 10q24 10q24.2 609767 SLC25A28, MRS4L, NPD016 Solute carrier family 25 (mitochondrial carrier), member 28 SLC25A28 81894 ENSG00000155287 Slc25a28 (MGI:2180509)
chr10 99659376 99711244 10q23-q24 10q24.2 616753 ENTPD7, LALP1 Ectonucleoside triphosphate diphosphohydrolase 7 ENTPD7 57089 ENSG00000198018 Entpd7 (MGI:2135885)
chr10 99694792 99732665 10q24 10q24.2 603646 COX15, CEMCOX2 Cytochrome c oxidase, subunit 15 COX15 1355 ENSG00000014919 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3), Autosomal recessive; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3), Autosomal recessive, Mitochondrial Cox15 (MGI:1920112)
chr10 99732200 99756136 10q24 10q24.2 610101 CUTC CutC copper transporter, E. coli, homolog of CUTC 51076 ENSG00000119929 Cutc (MGI:1913638)
chr10 99782597 99853740 10q24 10q24.2 601107 ABCC2, CMOAT ATP-binding cassette, subfamily C, member 2 (canalicular multispecific organic anion transporter) ABCC2 1244 ENSG00000023839 Dubin-Johnson syndrome, 237500 (3), Autosomal recessive Abcc2 (MGI:1352447)
chr10 99875570 100009952 10q24.2 10q24.2 611282 DNMBP, TUBA, KIAA1010 Dynamin-binding protein DNMBP 23268 ENSG00000107554 Dnmbp (MGI:1917352)
chr10 100042307 100081884 10q24.2 10q24.2 603103 CPN1, SCPN, CPN Carboxypeptidase N, polypeptide 1, 50-kD CPN1 1369 ENSG00000120054 Carboxypeptidase N deficiency, 212070 (3), Autosomal recessive Cpn1 (MGI:2135874)
chr10 100150089 100186056 10q24.31 10q24.31 611604 ERLIN1, SPG62 Endoplasmic reticulum lipid raft-associated protein 1 ERLIN1 10613 ENSG00000107566 Spastic paraplegia 62, 615681 (3), Autosomal recessive Erlin1 (MGI:2387613)
chr10 100188297 100229609 10q24 10q24.31 600664 CHUK, IKBKA, NFKBIKA, IKKA, IKK1 Conserved helix-loop-helix ubiquitous kinase CHUK 1147 ENSG00000213341 Cocoon syndrome, 613630 (3) Chuk (MGI:99484)
chr10 100232295 100267680 10q24.31 10q24.31 616120 CWF19L1, C19L1, SCAR17 CWF19-like protein 1 CWF19L1 55280 ENSG00000095485 Spinocerebellar ataxia, autosomal recessive 17, 616127 (3), Autosomal recessive Cwf19l1 (MGI:1919752)
chr10 100237155 100237301 10q24.31 10q24.31 611330 SNORA12 Small nucleolar RNA, H/ACA box, 12 SNORA12 677800 in intron 11 of CWF19L1
chr10 100273277 100286711 10q24.31 10q24.31 609768 BLOC1S2, BLOS2 Biogenesis of lysosome-related organelles complex 1, subunit 2 BLOC1S2 282991 ENSG00000196072 Bloc1s2 (MGI:1920939)
chr10 100288144 100347029 10q24-q25 10q24.31 604532 PKD2L1, PKDL, PKD2L Polycystin L PKD2L1 9033 ENSG00000107593 Pkd2l1 (MGI:1352448)
chr10 100347014 100364830 10q24.31 10q24.31 604031 SCD Stearoyl-CoA desaturase SCD 6319 ENSG00000099194 pseudogene on chr.17 Scd1 (MGI:98239)
chr10 100373575 100388353 10q24.31 10q24.31 616240 OLMALINC, LINC00263, OLMALINCAS Oligodendrocyte maturation-associated long intergenic noncoding RNA OLMALINC 90271 OLMALINCAS is on opposite strand overlapping exon 1 of OLMALINC
chr10 100463054 100483641 10q24 10q24.31 601396 WNT8B Wingless-type MMTV integration site family, member 8B WNT8B 7479 ENSG00000075290 Wnt8b (MGI:109485)
chr10 100486645 100519837 10q24.3 10q24.31 610258 SEC31B, SEC31L2 Sec31, yeast, homolog of, B SEC31B 25956 ENSG00000075826 Sec31b (MGI:2685187)
chr10 100523728 100529922 10q23.2-q23.33 10q24.31 602140 NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG) NDUFB8 4714 ENSG00000166136 previously assigned to 12q21 Ndufb8 (MGI:1914514)
chr10 100535883 100553923 10q24 10q24.31 606615 HIF1AN, FIH1 Hypoxia-inducible factor 1-alpha inhibitor HIF1AN 55662 ENSG00000166135 Hif1an (MGI:2442345)
chr10 100735708 100829940 10q24.3-q25.1 10q24.31 167409 PAX2, PAPRS, FSGS7 Paired box homeotic gene-2 PAX2 5076 ENSG00000075891 Glomerulosclerosis, focal segmental, 7, 616002 (3), Autosomal dominant; Papillorenal syndrome, 120330 (3), Autosomal dominant Pax2 (MGI:97486)
chr10 100909415 100965133 10q24 10q24.31 610348 FAM178A, C10orf6 Family with sequence similarity 178, member A SLF2 55719 ENSG00000119906 Slf2 (MGI:1924968)
chr10 100977819 100987518 10q24 10q24.31 611848 MRPL43 Mitochondrial ribosomal protein L43 MRPL43 84545 ENSG00000055950 Mrpl43 (MGI:2137229)
chr10 100987526 100994402 10q24 10q24.31 606075 TWNK, C10orf2, TWINKLE, PEOA3, IOSCA, MTDPS7, PRLTS5 Twinkle mtDNA helicase TWNK 56652 ENSG00000107815 PEO digenic with POLG Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3), Autosomal recessive; Perrault syndrome 5, 616138 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3), Autosomal dominant Twnk (MGI:2137410)
chr10 100997064 101007835 10q24.3 10q24.31 610454 LZTS2, KIAA1813, LAPSER1 Leucine zipper, putative tumor suppressor 2 LZTS2 84445 ENSG00000107816 Lzts2 (MGI:2385095)
chr10 101007682 101031156 10q24.3 10q24.31 612971 PDZD7 PDZ domain-containing 7 PDZD7 79955 ENSG00000186862 {Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3), Autosomal recessive; Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3), Autosomal recessive Pdzd7 (MGI:3608325)
chr10 101031238 101041242 10q24.31 10q24.31 615571 SFXN3 Sideroflexin 3 SFXN3 81855 ENSG00000107819 Sfxn3 (MGI:2137679)
chr10 101089320 101141265 10q24 10q24.31 612734 TD1 TLX1 divergent gene TLX1NB 100038246
chr10 101130772 101137788 10q24 10q24.31 186770 TLX1, HOX11, TCL3 T-cell leukemia, homeobox 1 TLX1 3195 ENSG00000107807 t(7;10) or t(10;4) in T-ALL Tlx1 (MGI:98769)
chr10 101200000 110100000 10q24.32-q25.1 614927 ECTD5 Ectodermal dysplasia 5, hair/nail type 101101769 between D10S1239 and D10S1264 Ectodermal dysplasia 5, hair/nail type, 614927 (2), Autosomal recessive
chr10 101226975 101228959 10q24 10q24.32 604255 LBX1, LBX1H Lady bird late, Drosophila, homolog of, 1 LBX1 10660 ENSG00000138136 Lbx1 (MGI:104867)
chr10 101353807 101557320 10q24-q25 10q24.32 603482 BTRC, BTRCP Beta-transducin repeat-containing protein BTRC 8945 ENSG00000166167 Btrc (MGI:1338871)
chr10 101578881 101588318 10q23 10q24.32 606343 POLL Polymerase, DNA, lambda POLL 27343 ENSG00000166169 Poll (MGI:1889000)
chr10 101588287 101609663 10q24.32 10q24.32 616467 DPCD Deleted in primary ciliary dyskinesia, mouse, homolog of DPCD 25911 ENSG00000166171 Dpcd (MGI:1924407)
chr10 101610663 101695294 10q24 10q24.32 608071 FBXW4, DAC, FBW4, FBWD4 F-box and WD repeat domain containing 4 FBXW4 6468 ENSG00000107829 Fbxw4 (MGI:1354698)
chr10 101770129 101780368 10q24 10q24.32 600483 FGF8, HH6 Fibroblast growth factor-8 FGF8 2253 ENSG00000107831 Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3), Autosomal dominant Fgf8 (MGI:99604)
chr10 101781324 101783412 10q24-q26 10q24.32 606456 NPM3 Nucleophosmin/nucleoplasmin family, member 3 NPM3 10360 ENSG00000107833 Npm3 (MGI:894653)
chr10 101784442 101818708 10q24.1-q24.3 10q24.32 604039 MGEA5 Meningioma-expressed antigen 5 OGA 10724 ENSG00000198408 Mgea5 (MGI:1932139)
chr10 102065366 102068037 10q24.32 10q24.32 607522 HPS6, RU HPS gene 6 HPS6 79803 ENSG00000166189 Hermansky-Pudlak syndrome 6, 614075 (3), Autosomal recessive Hps6 (MGI:2181763)
chr10 102102099 102120472 10q24-q25 10q24.32 603451 LDB1, CLIM2, NLI LIM domain-binding factor-1 LDB1 8861 ENSG00000198728 Ldb1 (MGI:894762)
chr10 102120633 102150332 10q24.2-q24.3 10q24.32 617462 PPRC1, PRC, KIAA0595 Peroxisome proliferator-activated receptor-gamma, coactivator-related protein 1 PPRC1 23082 ENSG00000148840 Pprc1 (MGI:2385096)
chr10 102152175 102163870 10q24.32 10q24.32 602394 NOLC1, p130, NOPP140 Nucleolar and coiled-body phosphoprotein 1 NOLC1 9221 ENSG00000166197
chr10 102224766 102229588 10q24.32 10q24.32 611815 ELOVL3, CIG30 Elongation of very long chain fatty acids-like 3 ELOVL3 83401 ENSG00000119915 Elovl3 (MGI:1195976)
chr10 102230188 102241473 10q25 10q24.32 602669 PITX3, CTPP4, CTRCT11, ASGD1 Paired-like homeodomain transcription factor-3 PITX3 5309 ENSG00000107859 Anterior segment dysgenesis 1, multiple subtypes, 107250 (3), Autosomal dominant; Cataract 11, multiple types, 610623 (3), Autosomal dominant; Cataract 11, syndromic, 610623 (3), Autosomal dominant Pitx3 (MGI:1100498)
chr10 102245497 102382898 10q24 10q24.32 603698 GBF1 Golgi-specific brefeldin-A resistance factor 1 GBF1 8729 ENSG00000107862 Gbf1 (MGI:1861607)
chr10 102394109 102402528 10q24 10q24.32 164012 NFKB2, LYT10, CVID10 Nuclear factor of kappa light chain gene enhancer in B-cells 2 (p49/p100); oncogene Lyt-10 NFKB2 4791 ENSG00000077150 Immunodeficiency, common variable, 10, 615577 (3), Autosomal dominant Nfkb2 (MGI:1099800)
chr10 102402616 102420163 10q24 10q24.32 602327 PSD Pleckstrin and Sec7 domain protein PSD 5662 ENSG00000059915 Psd (MGI:1920978)
chr10 102419221 102423137 10q24.32 10q24.32 610287 FBXL15, JET F-box and leucine-rich repeat protein 15 FBXL15 79176 ENSG00000107872 Fbxl15 (MGI:1915681)
chr10 102423244 102432665 10q24.32 10q24.32 614142 CUEDC2 Cue domain-containing protein 2 CUEDC2 79004 ENSG00000107874 Cuedc2 (MGI:1914366)
chr10 102436511 102436583 10q24.32 10q24.32 610567 MIR146B Micro RNA 146B MIR146B 574447
chr10 102479228 102502754 10q24.32 10q24.32 605143 ACTR1A, ARP1 Actin-related protein 1A ACTR1A 10121 ENSG00000138107 Actr1a (MGI:1858964)
chr10 102502800 102633457 10q24-q25 10q24.32 607035 SUFU, SUFUXL, SUFUH, JBTS32 Suppressor of fused SUFU 51684 ENSG00000107882 Basal cell nevus syndrome, 109400 (3), Autosomal dominant; Joubert syndrome 32, 617757 (3), Autosomal recessive; Medulloblastoma, desmoplastic, 155255 (3), Autosomal recessive, Autosomal dominant; {Meningioma, familial, susceptibility to}, 607174 (3), Autosomal dominant Sufu (MGI:1345643)
chr10 102644494 102658318 10q24.3 10q24.32 606125 TRIM8, RNF27, GERP Tripartite motif-containing 8 TRIM8 81603 ENSG00000171206 Trim8 (MGI:1933302)
chr10 102673726 102714432 10q23.3 10q24.32 604695 ARL3, ARFL3 ADP-ribosylation factor-like 3 ARL3 403 ENSG00000138175 Arl3 (MGI:1929699)
chr10 102714517 102739189 10q24.32 10q24.32 615570 SFXN2 Sideroflexin 2 SFXN2 118980 ENSG00000156398 Sfxn2 (MGI:2137678)
chr10 102742707 102816266 10q24.32 10q24.32 611129 C10orf26, OPAL1 Chromosome 10 open reading frame 26 WBP1L 54838 ENSG00000166272 Wbp1l (MGI:107577)
chr10 102830530 102837532 10q24.3 10q24.32 609300 CYP17A1, CYP17, P450C17 Cytochrome P450, family 17, subfamily A, polypeptide 1 (steroid 17-alpha-hydroxylase) CYP17A1 1586 ENSG00000148795 at least 2 genes; distal to GOT1 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3), Autosomal recessive; 17,20-lyase deficiency, isolated, 202110 (3), Autosomal recessive Cyp17a1 (MGI:88586)
chr10 102854209 102864960 10q24.32 10q24.32 616600 BORCS7, C10orf32 BLOC1-related complex, subunit 7 BORCS7 119032 ENSG00000166275 Borcs7 (MGI:1913689)
chr10 102869452 102901898 10q24 10q24.32 611806 AS3MT, CYT19 Arsenic (+3 oxidation state) methyltransferase AS3MT 57412 ENSG00000214435 As3mt (MGI:1929882)
chr10 102918292 103087168 10q24.33 10q24.32 607803 CNNM2, ACDP2, HOMG6, HOMGSMR Cyclin M2 CNNM2 54805 ENSG00000148842 Hypomagnesemia 6, renal, 613882 (3), Autosomal dominant; Hypomagnesemia, seizures, and mental retardation, 616418 (3), Autosomal recessive, Autosomal dominant Cnnm2 (MGI:2151054)
chr10 103088016 103193305 10q24.3 10q24.32-q24.33 600417 NT5C2, NT5B, PNT5, SPG45 5' nucleotidase, cytosolic II NT5C2 22978 ENSG00000076685 Spastic paraplegia 45, autosomal recessive, 613162 (3), Autosomal recessive Nt5c2 (MGI:2178563)
chr10 103302795 103351133 10q24.33 10q24.33 607816 PCGF6, RNF134, MBLR Polycomb group ring finger 6 PCGF6 84108 ENSG00000156374 Pcgf6 (MGI:1918291)
chr10 103367952 103389064 10q24-q25.2 10q24.33 601787 TAF5, TAF2D, TAFII100 TAF5 RNA polymerase II, TATA box binding protein-associated factor, 100kD TAF5 6877 ENSG00000148835 Taf5 (MGI:2442144)
chr10 103389049 103396512 10q24 10q24.33 615204 USMG5, DAPIT Upregulated during skeletal muscle growth 5, mouse, homolog of ATP5MD 84833 ENSG00000173915 Usmg5 (MGI:1891435)
chr10 103396614 103446294 10q24.2-q25.1 10q24.33 612333 PDCD11, ALG4, NFBP, KIAA0185 Programmed cell death 11 PDCD11 22984 ENSG00000148843 Pdcd11 (MGI:1341788)
chr10 103446782 103452404 10q24.33 10q24.33 612235 CALHM2, FAM26B Calcium homeostasis modulator 2 CALHM2 51063 ENSG00000138172 Calhm2 (MGI:1919941)
chr10 103453386 103458890 10q24.33 10q24.33 612234 CALHM1, FAM26C Calcium homeostasis modulator 1 CALHM1 255022 ENSG00000185933 ?Alzheimer disease, 605526 Calhm1 (MGI:3643383)
chr10 103493787 103592551 10q25.1 10q24.33 603804 NEURL1, NEURL, NEUR1 Neuralized E3 ubiquitin protein ligase 1 NEURL1 9148 ENSG00000107954 Neurl1a (MGI:1334263)
chr10 103877557 103918286 10q24.33 10q24.33 613128 STN1, OBFC1, AAF44 STN1, CST complex subunit STN1 79991 ENSG00000107960 Cerebroretinal microangiopathy with calcifications and cysts 2, 617341 (3), Autosomal recessive Stn1 (MGI:1915581)
chr10 103967099 104029232 10q24.33-q25.1 10q24.3-q25.1 616563 SLK, LOSK, KIAA0204 STE20-like protein kinase SLK 9748 ENSG00000065613 Slk (MGI:103241)
chr10 104000000 133797422 10q25-q26 609750 EIG4 Epilepsy, idiopathic generalized, susceptibility to 4 780913 between D16S397 and D16S3095 {Epilepsy, idiopathic generalized, susceptibility to 4}, 609750 (2)
chr10 104000000 117300000 10q25 603266 IDDM17 Insulin-dependent diabetes mellitus-17 IDDM17 8691 {Diabetes mellitus, insulin-dependent, 17}, 603266 (2)
chr10 104031287 104085879 10q24.3 10q25.1 113811 COL17A1, BPAG2, ERED Collagen XVII, alpha-1 polypeptide COL17A1 1308 ENSG00000065618 Epidermolysis bullosa, junctional, localisata variant, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive; Epithelial recurrent erosion dystrophy, 122400 (3), Autosomal dominant
chr10 104122057 104126384 10q25.1 10q25.1 616527 SFR1, MEI5, C10orf78 SWI5-dependent homologous recombination repair protein 1 SFR1 119392 ENSG00000156384 Sfr1 (MGI:1915038)
chr10 104129887 104232382 10q25.1 10q25.1 617558 CFAP43, WDR96, C10orf79, SPGF19 Cilia- and flagella-associated protein 43 CFAP43 80217 ENSG00000197748 Spermatogenic failure 19, 617592 (3), Autosomal recessive Cfap43 (MGI:1289258)
chr10 104254193 104267463 10q24-q25 10q25.1 605482 GSTO1 Glutathione S-transferase, omega-1 GSTO1 9446 ENSG00000148834 Gsto1 (MGI:1342273)
chr10 104267625 104304947 10q24-q25 10q25.1 612314 GSTO2 Glutathione S-transferase, omega-2 GSTO2 119391 ENSG00000065621 Gsto2 (MGI:1915464)
chr10 104641100 105265241 10q23.3 10q25.1 606285 SORCS3, KIAA1059 SORCS receptor 3 SORCS3 22986 ENSG00000156395 Sorcs3 (MGI:1913923)
chr10 106573662 107181137 10q23.3 10q25.1 606283 SORCS1 SORCS receptor 1 SORCS1 114815 ENSG00000108018 Sorcs1 (MGI:1929666)
chr10 109864765 109923552 10q25.3 10q25.1 602443 XPNPEP1, SAMP, XPNPEPL X-prolyl aminopeptidase P1 XPNPEP1 7511 ENSG00000108039 Xpnpep1 (MGI:2180003)
chr10 109996349 110135564 10q24.2-q24.3 10q25.1-q25.2 601568 ADD3, ADDL, CPSQ3 Adducin-3, gamma ADD3 120 ENSG00000148700 fusion with NUP98 in T-ALL Cerebral palsy, spastic quadriplegic, 3, 617008 (3), Autosomal recessive Add3 (MGI:1351615)
chr10 110207604 110287364 10q25 10q25.2 600020 MXI1 MAX-interacting protein 1 MXI1 4601 ENSG00000119950 Neurofibrosarcoma (3); {Prostate cancer, susceptibility to}, 176807 (3), Autosomal dominant Mxi1 (MGI:97245)
chr10 110293039 110304968 10q23 10q25.2 603519 SMNR, SPF30 Survival motor neuron-related protein SMNDC1 10285 ENSG00000119953 Smndc1 (MGI:1923729)
chr10 110497866 110511543 10q25 10q25.2 603069 DUSP5, HVH3 Dual-specificity phosphatase-5 DUSP5 1847 ENSG00000138166 Dusp5 (MGI:2685183)
chr10 110567690 110604633 10q25 10q25.2 606062 SMC3, CSPG6, HCAP, BAM, CDLS3 Structural maintenance of chromosomes 3 SMC3 9126 ENSG00000108055 Cornelia de Lange syndrome 3, 610759 (3), Autosomal dominant Smc3 (MGI:1339795)
chr10 110641932 110839470 10q25.2 10q25.2 613171 RBM20 RNA-binding motif protein 20 RBM20 282996 ENSG00000203867 Cardiomyopathy, dilated, 1DD, 613172 (3), Autosomal dominant Rbm20 (MGI:1920963)
chr10 110871794 110900005 10q24 10q25.2 608610 PDCD4 Programmed cell death 4 PDCD4 27250 ENSG00000150593 Pdcd4 (MGI:107490)
chr10 110898729 110919365 10q25.2 10q25.2 613605 BBIP1, NCRNA00081, BBIP10, BBS18 BBSome interacting protein 1 BBIP1 92482 ENSG00000214413 mutation identified in 1 BBS18 family ?Bardet-Biedl syndrome 18, 615995 (3), Autosomal recessive Bbip1 (MGI:1913610)
chr10 110919369 111013666 10q25 10q25.2 602775 SHOC2, SIAA0862, SOC2, SUR8 Suppressor of clear, C. elegans, homolog of SHOC2 8036 ENSG00000108061 Noonan-like syndrome with loose anagen hair, 607721 (3), Autosomal dominant Shoc2 (MGI:1927197)
chr10 111077031 111080906 10q24-q26 10q25.2 104210 ADRA2A, ADRA2R Adrenergic, alpha-2A-, receptor ADRA2A 150 ENSG00000150594 Adra2a (MGI:87934)
chr10 112149863 112216305 10q24-q26 10q25.2 602395 GPAM Glycerol-3-phosphate acyltransferase GPAM 57678 ENSG00000119927 Gpam (MGI:109162)
chr10 112283655 112305034 10q25.2 10q25.2 602653 TECTB Tectorin, beta TECTB 6975 ENSG00000119913 Tectb (MGI:109574)
chr10 112374157 112428379 10q25.1-q25.2 10q25.2 605677 ACSL5, FACL5, ACS5 Acyl-CoA synthetase long-chain family member 5 ACSL5 51703 ENSG00000197142 Acsl5 (MGI:1919129)
chr10 112446987 112949402 10q25.2 10q25.2 614316 VTI1A, VTI1RP2, MMDS3 VTI1, S. cerevisiae, homolog of, A VTI1A 143187 ENSG00000151532 Vti1a (MGI:1855699)
chr10 112950219 113167677 10q25.3 10q25.2-q25.3 602228 TCF7L2, TCF4 Transcription factor 7-like 2 TCF7L2 6934 ENSG00000148737 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant Tcf7l2 (MGI:1202879)
chr10 113100000 133797422 10q25.3-q26.3 102777 ADORA2L1, ADORA2L Adenosine A2 receptor-like 1
chr10 113550830 113589601 10q25-q26 10q25.3 603924 HABP2, PHBP, HGFAL, FSAP, NMTC5 Hyaluronan-binding protein 2 HABP2 3026 ENSG00000148702 mutation identified in 1 NMTC5 family {?Thyroid cancer, nonmedullary, 5}, 616535 (3), Autosomal dominant; {Venous thromboembolism, susceptibility to}, 188050 (3), Autosomal dominant Habp2 (MGI:1196378)
chr10 113588823 113664069 10q24-q26 10q25.3 602873 NRAP Nebulin-related anchoring protein NRAP 4892 ENSG00000197893 Nrap (MGI:1098765)
chr10 113679161 113730908 10q25.1-q25.2 10q25.3 601761 CASP7, MCH3 Caspase 7, apoptosis-related cysteine protease CASP7 840 ENSG00000165806 Casp7 (MGI:109383)
chr10 113834723 113854403 10q25.1 10q25.3 609682 DCLRE1A, SNM1, SNM1A, KIAA0086 DNA cross-link repair protein 1A DCLRE1A 9937 ENSG00000198924 Dclre1a (MGI:1930042)
chr10 114044046 114046907 10q24-q26 10q25.3 109630 ADRB1, ADRB1R, RHR Adrenergic, beta-1-, receptor ADRB1 153 ENSG00000043591 close linkage to ADRA2R {Congestive heart failure and beta-blocker response, modifier of} (3); [Resting heart rate], 607276 (3) Adrb1 (MGI:87937)
chr10 114174441 114232668 10q25.3 10q25.3 605796 TDRD1 Tudor domain protein 1 TDRD1 56165 ENSG00000095627 Tdrd1 (MGI:1933218)
chr10 114280759 114404777 10q25.3 10q25.3 612420 AFAP1L2, XB130, KIAA1914 Actin filament-associated protein 1-like protein 2 AFAP1L2 84632 ENSG00000169129 Afap1l2 (MGI:2147658)
chr10 114431109 114821642 10q25 10q25.3 602330 LIMAB1 LIM actin-binding protein-1 ABLIM1 3983 ENSG00000099204 Ablim1 (MGI:1194500)
chr10 114821743 114899826 10q25.3 10q25.3 617312 FAM160B1, KIAA1600 Family with sequence similarity 160, member B1 FAM160B1 57700 ENSG00000151553 Fam160b1 (MGI:2147545)
chr10 114938192 114977679 10q25.3 10q25.3 610726 TRUB1, PUS4 TRUB pseudouridine synthase, E. coli, homolog of, 1 TRUB1 142940 ENSG00000165832 Trub1 (MGI:1919383)
chr10 115093364 115948998 10q26 10q25.3 612869 ATRNL1, KIAA0534, ALP Attractin-like 1 ATRNL1 26033 ENSG00000107518 Atrnl1 (MGI:2147749)
chr10 116056924 116273644 10q26 10q25.3 601496 GFRA1, GDNFRA, GDNFR GDNF family receptor, alpha-1 GFRA1 2674 ENSG00000151892 Gfra1 (MGI:1100842)
chr10 116545923 116567857 10q26.1 10q25.3 246600 PNLIP, PNLIPD Pancreatic lipase PNLIP 5406 ENSG00000175535 mutation identified in 1 family ?Pancreatic lipase deficiency, 614338 (3), Autosomal recessive Pnlip (MGI:97722)
chr10 116590958 116609174 10q25.3 10q25.3 604422 PNLIPRP1, PLRP1 Pancreatic lipase-related protein 1 PNLIPRP1 5407 ENSG00000187021 Pnliprp1 (MGI:97723)
chr10 116620952 116645142 10q25.3 10q25.3 604423 PNLIPRP2, PLRP2 Pancreatic lipase-related protein 2 PNLIPRP2 5408 ENSG00000266200 Pnliprp2 (MGI:1336202)
chr10 116671191 116853271 10q26.12 10q25.3 610701 HSPA12A, KIAA0417 Heat-shock 70kD protein 12A HSPA12A 259217 ENSG00000165868 Hspa12a (MGI:1920692)
chr10 116883376 117126585 10q25.3 10q25.3 611171 KIAA1598, SHOOTIN1 Kiaa1598 gene SHTN1 57698 ENSG00000187164 Shtn1 (MGI:1918903)
chr10 117128520 117138300 10q26.1 10q25.3 604294 VAX1, MCOPS11 Ventral anterior homeo box 1 VAX1 11023 ENSG00000148704 mutation identified in one MCOPS11 family ?Microphthalmia, syndromic 11, 614402 (3), Autosomal recessive Vax1 (MGI:1277163)
chr10 117197488 117210298 10q25.3 10q25.3 613655 KCNK18, TRESK, TRIK, MGR13 Potassium channel, subfamily K, member 18 KCNK18 338567 ENSG00000186795 {Migraine, with or without aura, susceptibility to, 13}, 613656 (3) Kcnk18 (MGI:2685627)
chr10 117241072 117279429 10q25 10q25.3 193001 SLC18A2, VAT2, SVMT Solute carrier family 18 (vesicular monoamine), member 2 SLC18A2 6571 ENSG00000165646 Slc18a2 (MGI:106677)
chr10 117280488 117375491 10q25.3-q26.11 10q25.3-q26.1 614235 PDZD8 PDZ domain-containing protein 8 PDZD8 118987 ENSG00000165650 Pdzd8 (MGI:2677270)
chr10 117300000 133797422 10q26 615163 CORD17 Cone-rod dystrophy 17 CORD17 101409267 between D10S1757 and D10S1782 Cone-rod dystrophy 17, 615163 (2), Autosomal dominant
chr10 117300000 133797422 10q26 609625 DEL10q26, C10q26DEL Chromosome 10q26 deletion syndrome Chromosome 10q26 deletion syndrome, 609625 (4), Autosomal dominant
chr10 117300000 133797422 10q26 131200 ENDO1 Endometriosis, susceptibility to, 1 100188863 max lod at D10S587 {Endometriosis, susceptibility to, 1}, 131200 (2), Autosomal recessive, Multifactorial
chr10 117300000 133797422 10q26 609116 RRIS Respiratory rhythmicity in sleep 497662 [Respiratory rhythmicity in sleep], 609116 (2)
chr10 117484292 117545067 10q26 10q26.11 607637 EMX2OS EMX2 opposite strand EMX2OS 196047 non-coding RNA
chr10 117542444 117549545 10q26.1 10q26.11 600035 EMX2 Empty spiracles, Drosophila, homolog of, 2 EMX2 2018 ENSG00000170370 close to VAX1 Schizencephaly, 269160 (3) Emx2 (MGI:95388)
chr10 118004915 118046920 10q26 10q26.11 608599 RAB11FIP2, KIAA0941 RAB11 family-interacting protein 2 RAB11FIP2 22841 ENSG00000107560 Rab11fip2 (MGI:1922248)
chr10 118046820 118210152 10q26 10q26.11 608598 CASC2 Cancer susceptibility candidate 2 CASC2 255082 head-to-head orientation with RAB11FIP2
chr10 118593403 118595647 10q25.3-q26 10q26.11 600895 GPR10 G protein-coupled receptor-10 PRLHR 2834 ENSG00000119973 Prlhr (MGI:2135956)
chr10 119029715 119033731 10q26.11 10q26.11 608226 NANOS1, NOS1, SPGF12 NANOS, Drosophila, homolog of, 1 NANOS1 340719 ENSG00000188613 Spermatogenic failure 12, 615413 (3), Autosomal dominant Nanos1 (MGI:2669254)
chr10 119033669 119080883 10q26 10q26.11 602039 EIF3A, EIF3S10, P167 Eukaryotic translation initiation factor 3, subunit A EIF3A 8661 ENSG00000107581 Eif3a (MGI:95301)
chr10 119140912 119165727 10q26.11 10q26.11 615564 SFXN4, COXPD18 Sideroflexin 4 SFXN4 119559 ENSG00000183605 Combined oxidative phosphorylation deficiency 18, 615578 (3), Autosomal recessive Sfxn4 (MGI:2137680)
chr10 119167698 119178864 10q25-q26 10q26.11 604769 PRDX3, AOP1 Peroxiredoxin 3 (antioxidant protein 1) PRDX3 10935 ENSG00000165672 Prdx3 (MGI:88034)
chr10 119207684 119455618 10q24-qter 10q26.11 600870 GRK5, GPRK5 G protein-coupled receptor kinase 5 GRK5 2869 ENSG00000198873 Grk5 (MGI:109161)
chr10 119573464 119598840 10q 10q26.11 603413 TIAL1, TIAR, TCBP Tia1 cytotoxic granule-associated RNA-binding protein-like 1 TIAL1 7073 ENSG00000151923 Tial1 (MGI:107913)
chr10 119651369 119677818 10q25.2-q26.2 10q26.11 603883 BAG3, MFM6 BCL2-associated athanogene 3 BAG3 9531 ENSG00000151929 Cardiomyopathy, dilated, 1HH, 613881 (3), Autosomal dominant; Myopathy, myofibrillar, 6, 612954 (3), Autosomal dominant Bag3 (MGI:1352493)
chr10 119704394 119830481 10q26.11 10q26.11 609389 INPP5F, SAC2, KIAA0966 Inositol polyphosphate 5-phosphatase F INPP5F 22876 ENSG00000198825 Inpp5f (MGI:2141867)
chr10 119829403 119873627 10q26.11 10q26.11 610909 MCMBP, C10orf119 Minichromosome maintenance complex-binding protein MCMBP 79892 ENSG00000197771 Mcmbp (MGI:1920977)
chr10 119892572 119944657 10q26.11-q26.12 10q26.11-q26.12 617852 SEC23IP Sec23-interacting protein SEC23IP 11196 ENSG00000107651 Sec23ip (MGI:2450915)
chr10 120851174 120909525 10q26 10q26.12 606417 WDR11, DR11, KIAA1351, BRWD2, HH14 WD repeat-containing protein 11 WDR11 55717 ENSG00000120008 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3), Autosomal dominant Wdr11 (MGI:1920230)
chr10 121478329 121598457 10q26 10q26.13 176943 FGFR2, BEK, CFD1, JWS, TK14, BBDS Fibroblast growth factor receptor-2 (bacteria-expressed kinase) FGFR2 2263 ENSG00000066468 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3), Autosomal dominant; Apert syndrome, 101200 (3), Autosomal dominant; Beare-Stevenson cutis gyrata syndrome, 123790 (3), Autosomal dominant; Bent bone dysplasia syndrome, 614592 (3), Autosomal dominant; Craniofacial-skeletal-dermatologic dysplasia, 101600 (3), Autosomal dominant; Craniosynostosis, nonspecific (3); Crouzon syndrome, 123500 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Jackson-Weiss syndrome, 123150 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant; Pfeiffer syndrome, 101600 (3), Autosomal dominant; Saethre-Chotzen syndrome, 101400 (3), Autosomal dominant; Scaphocephaly and Axenfeld-Rieger anomaly (3); Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3) Fgfr2 (MGI:95523)
chr10 121957087 121975227 10q26.13 10q26.13 612987 NSMCE4A, NSE4A Non-SMC element 4, S. cerevisiae, homolog of, A NSMCE4A 54780 ENSG00000107672 Nsmce4a (MGI:1915122)
chr10 121989173 122254544 10q26 10q26.13 605302 TACC2 Transforming, acidic, coiled-coil-containing protein 2 TACC2 10579 ENSG00000138162 Tacc2 (MGI:1928899)
chr10 122374577 122432354 10q25.3-q26.2 10q26.13 607772 PLEKHA1, TAPP1 Pleckstrin homology domain-containing protein, family A, member 1 PLEKHA1 59338 ENSG00000107679 Plekha1 (MGI:2442213)
chr10 122454652 122457351 10q26.13 10q26.13 611313 LOC387715, ARMD8 LOC387715 gene ARMS2 387715 ENSG00000254636 {Macular degeneration, age-related, 8}, 613778 (3)
chr10 122461524 122514907 10q25.3-q26.2 10q26.13 602194 HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2 HTRA serine peptidase 1 HTRA1 5654 ENSG00000166033 CARASIL syndrome, 600142 (3), Autosomal recessive; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3), Autosomal dominant; {Macular degeneration, age-related, 7}, 610149 (3); {Macular degeneration, age-related, neovascular type}, 610149 (3) Htra1 (MGI:1929076)
chr10 122560664 122643735 10q25.3-q26.1 10q26.13 601969 DMBT1 Deleted in malignant brain tumors 1 DMBT1 1755 ENSG00000187908 Dmbt1 (MGI:106210)
chr10 122832154 122846174 10q26.13 10q26.13 616644 CUZD1, ERG1, ITMAP1 Cub and zona pellucida-like domains 1 CUZD1 50624 ENSG00000138161 Cuzd1 (MGI:1202881)
chr10 122980039 122990406 10q26.13 10q26.13 611310 PSTK, C10orf89 Phosphoseryl-tRNA kinase PSTK 118672 ENSG00000179988 Pstk (MGI:2685945)
chr10 122990805 123008849 10q26.13 10q26.13 606238 IFZF5, ZNFN1A5, PEGASUS Ikaros family zinc finger 5 IKZF5 64376 ENSG00000095574 Ikzf5 (MGI:1914393)
chr10 123008912 123058289 10q25-q26 10q26.13 600301 ACADSB, SBCAD Acyl-Coenzyme A dehydrogenase, short/branched chain ACADSB 36 ENSG00000196177 2-methylbutyrylglycinuria, 610006 (3), Autosomal recessive Acadsb (MGI:1914135)
chr10 123136050 123137730 10q26.13 10q26.13 613380 HMX3, NKX5.1 H6 family homeobox 3 HMX3 340784 ENSG00000188620 Hmx3 (MGI:107160)
chr10 123142420 123150672 10q25.2-q26.3 10q26.13 600647 HMX2 Homeo box (H6 family) 2 HMX2 3167 ENSG00000188816 Hmx2 (MGI:107159)
chr10 123154243 123165369 10q24-q26 10q26.13 603719 BUB3 Budding uninhibited by benzimidazoles 3, S. cerevisiae, homolog of BUB3 9184 ENSG00000154473 Bub3 (MGI:1343463)
chr10 123666354 123697398 10q26.2-q26.3 10q26.13 604847 GPR26 G protein-coupled receptor 26 GPR26 2849 ENSG00000154478 Gpr26 (MGI:2441758)
chr10 123745635 123944093 10q26.13 10q26.13 617348 CPXM2, CPX2 Carboxypeptidase X, M14 family, member 2 CPXM2 119587 ENSG00000121898 Cpxm2 (MGI:1926006)
chr10 124006058 124093683 10q26 10q26.13 608277 CHST15, BRAG, KIAA0598 Carbohydrate sulfotransferase 15 CHST15 51363 ENSG00000182022 Chst15 (MGI:1924840)
chr10 124397302 124418975 10q26 10q26.13 613349 OAT, GACR Ornithine aminotransferase OAT 4942 ENSG00000065154 pseudogene at Xp11.2 Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3), Autosomal recessive Oat (MGI:97394)
chr10 124461771 124614140 10q26.13 10q26.13 617231 LHPP Phospholysine phosphohistidine inorganic pyrophosphate phosphatase LHPP 64077 ENSG00000107902 Lhpp (MGI:1923679)
chr10 124619293 124744360 10q26.13 10q26.13 617289 FAM53B, KIAA0140 Family with sequence similarity 53, member B FAM53B 9679 ENSG00000189319 Fam53b (MGI:1925188)
chr10 124757830 124791940 10q26.13 10q26.13 617794 EEF1AKMT2, METTL10 EEF1A lysine methyltransferase 2 EEF1AKMT2 399818 ENSG00000203791 Eef1akmt2 (MGI:1919346)
chr10 124801784 124836669 10q26.13 10q26.13 611144 FAM175B, ABRO1, KIAA0157 Family with sequence similarity 175, member B ABRAXAS2 23172 ENSG00000165660 Abraxas2 (MGI:1926116)
chr10 124939488 124987435 10q26.13 10q26.13 611749 ZRANB1, TRABID Zinc finger- and RAN-binding domain-containing protein 1 ZRANB1 54764 ENSG00000019995 Zranb1 (MGI:106441)
chr10 124987848 125161060 10q26.13 10q26.13 602619 CTBP2 C-terminal-binding protein 2 CTBP2 1488 ENSG00000175029 Ctbp2 (MGI:1201686)
chr10 125766452 125775820 10q26.13 10q26.2 608416 MMP21, HTX7 Matrix metalloproteinase 21 MMP21 118856 ENSG00000154485 Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive Mmp21 (MGI:2664387)
chr10 125784979 125823279 10q25.2-q26.3 10q26.2 606938 UROS Uroporphyrinogen III synthase UROS 7390 ENSG00000188690 Porphyria, congenital erythropoietic, 263700 (3), Autosomal recessive Uros (MGI:98917)
chr10 125823534 125853694 10q25.3-q26.2 10q26.2 611883 BCCIP, TOK1 BRCA2- and CDKN1A-interacting protein BCCIP 56647 ENSG00000107949 Bccip (MGI:1913415)
chr10 125836339 125881314 10q26 10q26.2 607960 DHX32, DDX32 DEAH (Asp-Glu-Ala-His) box polypeptide 32 DHX32 55760 ENSG00000089876 Dhx32 (MGI:2141813)
chr10 125896222 126009598 10q26.2 10q26.2 611640 FANK1 Fibronectin type III and ankyrin repeat domains 1 FANK1 92565 ENSG00000203780 Fank1 (MGI:1914180)
chr10 126012384 126388557 10q26.3 10q26.2 602714 ADAM12, MLTN A disintegrin and metalloproteinase domain 12 (Meltrin-alpha, mouse, homolog of) ADAM12 8038 ENSG00000148848 Adam12 (MGI:105378)
chr10 126424996 126670509 10q26.2 10q26.2 617735 C10orf90, FATS Chromosome 10 open reading frame 90 C10orf90 118611 ENSG00000154493 D7Ertd443e (MGI:1196431)
chr10 126905408 127452516 10q26.13-q26.3 10q26.2 601403 DOCK1, DOCK180 Dedicator of cytokinesis-1 DOCK1 1793 ENSG00000150760 Dock1 (MGI:2429765)
chr10 127135425 127196572 10q26.2 10q26.2 617129 FAM196A, C10orf141, INSYN2 Family with sequence similarity 196, member A FAM196A 642938 ENSG00000188916 Fam196a (MGI:3605068)
chr10 127549348 127552670 10q26.2 10q26.2 609513 NPS Neuropeptide S NPS 594857 ENSG00000214285 Nps (MGI:3642232)
chr10 127737273 127741185 10q26.2 10q26.2 617202 FOXI2 Forkhead box I2 FOXI2 399823 ENSG00000186766 Foxi2 (MGI:3028075)
chr10 127907052 128085854 10q26 10q26.2 600926 PTPRE Protein tyrosine phosphatase, receptor type, epsilon PTPRE 5791 ENSG00000132334 Ptpre (MGI:97813)
chr10 128096658 128126404 10q25-qter 10q26.2 176741 MKI67 Proliferation-related Ki-67 antigen MKI67 4288 ENSG00000148773 Mki67 (MGI:106035)
chr10 128800000 133797422 10q26.3 166760 OMS Otitis media susceptibility to 619538 also 19q, 3p {Otitis media, susceptibility to}, 166760 (2)
chr10 129467183 129770982 10q26 10q26.3 156569 MGMT Methylguanine-DNA methyltransferase MGMT 4255 ENSG00000170430 Mgmt (MGI:96977)
chr10 129835231 129964273 10q26.3 10q26.3 607407 EBF3, COE3, HADDS Early B-cell factor 3 EBF3 253738 ENSG00000108001 Hypotonia, ataxia, and delayed development syndrome, 617330 (3), Autosomal dominant Ebf3 (MGI:894289)
chr10 130136374 130182876 10q26.3 10q26.3 612754 GLRX3, PICOT Glutaredoxin 3 GLRX3 10539 ENSG00000108010 Glrx3 (MGI:1353653)
chr10 131900643 131971534 10q26.3 10q26.3 613992 PPP2R2D Protein phosphatase 2, regulatory subunit B, delta PPP2R2D 55844 ENSG00000175470 Ppp2r2d (MGI:1289252)
chr10 131967682 131982012 10q26.3 10q26.3 603293 BNIP3, NIP3 BCL2/adenovirus E1B 19-kD protein-interacting protein 3 BNIP3 664 ENSG00000176171 Bnip3 (MGI:109326)
chr10 132036067 132184851 10q26.1 10q26.3 611198 JAKMIP3, C10orf39, NECC2, JAMIP3 Janus kinase and microtubule interacting protein 3 JAKMIP3 282973 ENSG00000188385 Jakmip3 (MGI:1921254)
chr10 132184982 132205775 10q25.2-q26 10q26.3 608407 DPYSL4, CRMP3, ULIP4 Dihydropyrimidinase-like 4 DPYSL4 10570 ENSG00000151640 Dpysl4 (MGI:1349764)
chr10 132537778 132783479 10q26.3 10q26.3 600106 INPP5A Inositol polyphosphate-5-phosphatase, 40kD INPP5A 3632 ENSG00000068383 Inpp5a (MGI:2686961)
chr10 132782228 132786032 10q26 10q26.3 605955 NKX6-2, NKX6B, NKX6.2, SPAX8 NK6 transcription factor related, locus 2 (Drosophila) NKX6-2 84504 ENSG00000148826 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3), Autosomal recessive Nkx6-2 (MGI:1352738)
chr10 133070928 133131674 10q26.3 10q26.3 612302 ADGRA1, GPR123, KIAA1828 Adhesion G protein-coupled receptor A1 ADGRA1 84435 ENSG00000197177 Adgra1 (MGI:1277167)
chr10 133160431 133226411 10q26.3 10q26.3 616237 KNDC1, RASGEF2, KIAA1768 Kinase noncatalytic C-lobe domain-containing protein 1 KNDC1 85442 ENSG00000171798 Kndc1 (MGI:1923734)
chr10 133230273 133231557 10q26 10q26.3 604130 UTF1 Undifferentiated embryonic cell transcription factor 1 UTF1 8433 ENSG00000171794 Utf1 (MGI:1276125)
chr10 133237903 133241929 10q26.3 10q26.3 607158 VENTX, VENTX2, HPX42B VENT homeobox VENTX 27287 ENSG00000151650
chr10 133262415 133276902 10q26.3 10q26.3 602267 ADAM8, CD156 A disintegrin and metalloprotease domain 8 ADAM8 101 ENSG00000151651 Adam8 (MGI:107825)
chr10 133278629 133312336 10q26.3 10q26.3 617817 TUBGCP2, GCP2, GRIP103, SPC97, ALP4 Tubulin-gamma complex-associated protein 2 TUBGCP2 10844 ENSG00000130640 Tubgcp2 (MGI:1921487)
chr10 133325422 133336982 10q26.3 10q26.3 604647 CALY, DRD1IP Calcyon neuron-specific vesicular protein CALY 50632 ENSG00000130643 Caly (MGI:1915816)
chr10 133347339 133352682 10q26.3 10q26.3 609776 PRAP1 Proline-rich acidic protein 1 PRAP1 118471 ENSG00000165828 Prap1 (MGI:893573)
chr10 133352772 133358030 10q26.3 10q26.3 617725 FUOM, FUCU Fucose mutarotase FUOM 282969 ENSG00000148803 Fuom (MGI:1916314)
chr10 133362479 133373403 10q26.2-q26.3 10q26.3 602292 ECHS1, SCEH, ECHS1D Enoyl-CoA hydratase, short-chain, 1, mitochondrial ECHS1 1892 ENSG00000127884 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3), Autosomal recessive Echs1 (MGI:2136460)
chr10 133379236 133391695 10q26.3 10q26.3 615853 PAOX, PAO Polyamine oxidase PAOX 196743 ENSG00000148832 Paox (MGI:1916983)
chr10 133420665 133424616 10q26.3 10q26.3 610447 SPRN, SHADOO, SHO Shadow of prion protein SPRN 503542 ENSG00000203772 Sprn (MGI:3582583)
chr10 133527362 133539115 10q24.3-qter 10q26.3 124040 CYP2E, CYP2E1, P450C2E Cytochrome P450, subfamily IIE, ethanol-inducible CYP2E1 1571 ENSG00000130649 Cyp2e1 (MGI:88607)
chr10 133553899 133568274 10q26.3 10q26.3 611486 SYCE1, POF12, SPGF15 Synaptonemal complex central element protein 1 SYCE1 93426 ENSG00000171772 mutation identified in 1 POF12 and 1 SPGF15 family ?Premature ovarian failure 12, 616947 (3), Autosomal recessive; ?Spermatogenic failure 15, 616950 (3), Autosomal recessive Syce1 (MGI:1921325)
chr11 0 31000000 11p15-p14 606528 DEL11p15p14, C11DELp15p14 Chromosome 11p15-p14 deletion syndrome (homozygous) contiguous gene deletion syndrome Chromosome 11p15-p14 deletion syndrome, 606528 (4), Autosomal recessive
chr11 0 22000000 11p15 611010 GINGF4, HGF4, GGF4 Fibromatosis, gingival, 4 GINGF4 100124414 between D11S1984 and D11S1338 Fibromatosis, gingival, 4, 611010 (2)
chr11 0 53400000 11p 604499 HYPLIP2 Hyperlipidemia, combined, 2 28515 Hyperlipidemia, combined, 2, 604499 (2)
chr11 0 22000000 11p15 235000 IH, HHP Hemihyperplasia, isolated 100188864 epigenetic or uniparental disomy Hemihypertrophy, 235000 (2), Autosomal dominant
chr11 0 2800000 11p15.5 147510 IRDN, ILPR Insulin-related DNA polymorphism (insulin-related VNTR)
chr11 0 22000000 11p15 609470 LVNC2 Left ventricular noncompaction 2 619411 max lod at D11S902 Left ventricular noncompaction 2, 609470 (2)
chr11 0 22000000 11p15 616792 NBLST7 Neuroblastoma, susceptibility to, 7 107181289 associated with rs2168101 {Neuroblastoma, susceptibility to, 7}, 616792 (2)
chr11 0 53400000 11p 600165 NNO1 Nanophthalmos 1 NNO1 23691 Nanophthalmos-1, 600165 (2), Autosomal dominant
chr11 0 2800000 11p15.5 607967 SLEN3 Systemic lupus erythematosus with nephritis, susceptibility to, 3 SLEN3 282849 {Systemic lupus erythematosus with nephritis, susceptibility to, 3}, 607967 (2)
chr11 0 48800000 11pter-p11.2 186710 TP250 T-cell activation antigen p250
chr11 187880 194574 11p15.5 11p15.5 610176 SCGB1C1, RYD5 Secretoglobin, family 1C, member 1 SCGB1C1 147199 ENSG00000188076
chr11 196760 200257 11p15.5 11p15.5 608356 ODF3, SHIPPO1 Outer dense fiber of sperm tails 3 ODF3 113746 ENSG00000177947 Odf3 (MGI:1916537)
chr11 202923 207421 11p15.5 11p15.5 615417 BET1L, GS15 BET1-like protein BET1L 51272 ENSG00000177951 Bet1l (MGI:1913128)
chr11 207510 215174 11p15.5 11p15.5 609146 RIC8A Ric8, C. elegans, homolog of, A RIC8A 60626 ENSG00000177963 Ric8a (MGI:2141866)
chr11 215029 236949 11p15.5 11p15.5 604481 SIRT3, SIR2L3 Sirtuin, S. cerevisiae, homolog 3 SIRT3 23410 ENSG00000142082 Sirt3 (MGI:1927665)
chr11 236807 252983 11p15.5 11p15.5 603481 PSMD13, S11 Proteasome 26S subunit, non-ATPase, 13 PSMD13 5719 ENSG00000185627 Psmd13 (MGI:1345192)
chr11 278364 285941 11p15.5 11p15.5 609650 NALP6, PYPAF5 NACHT domain-, leucine-rich repeat-, and PYD-containing protein 6 NLRP6 171389 ENSG00000174885 Nlrp6 (MGI:2141990)
chr11 287759 295687 11p15.5 11p15.5 617032 PGGHG, ATHL1 Protein-glucosylgalactosylhydroxylysine glucosidase PGGHG 80162 ENSG00000142102 Pgghg (MGI:2444047)
chr11 298199 299525 11p15.5 11p15.5 614757 IFITM5, OI5 Interferon-induced transmembrane protein 5 IFITM5 387733 ENSG00000206013 Osteogenesis imperfecta, type V, 610967 (3), Autosomal dominant Ifitm5 (MGI:1934923)
chr11 308106 309409 11p15.5 11p15.5 605578 IFITM2 Interferon-induced transmembrane protein 1 IFITM2 10581 ENSG00000185201 Ifitm2 (MGI:1933382)
chr11 313990 315271 11p15.5 11p15.5 604456 IFITM1, IFI17, LEU13 Interferon-induced transmembrane protein 1 IFITM1 8519
chr11 319672 320913 11p15.5 11p15.5 605579 IFITM3 Interferon-induced transmembrane protein 3 IFITM3 10410 ENSG00000142089 {Influenza, severe, susceptibility to}, 614680 (3) Ifitm3 (MGI:1913391)
chr11 392598 404907 11p15 11p15.5 605561 PKP3 Plakophilin-3 PKP3 11187 ENSG00000184363 Pkp3 (MGI:1891830)
chr11 405715 417453 11p15.5 11p15.5 605478 SIGIRR Single immunoglobulin domain-containing IL1R-related protein SIGIRR 59307 ENSG00000185187 Sigirr (MGI:1344402)
chr11 448214 491399 11p15.5 11p15.5 612793 PTDSS2, PSS2 Phosphatidylserine synthase 2 PTDSS2 81490 ENSG00000174915 Ptdss2 (MGI:1351664)
chr11 494511 507282 11p15.5 11p15.5 173320 RNH1, RNH Ribonuclease/angiogenin inhibitor 1 RNH1 6050 ENSG00000023191 Rnh1 (MGI:1195456)
chr11 532241 535566 11p15.5 11p15.5 190020 HRAS Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog HRAS 3265 ENSG00000174775 pseudogene HRASP on X {Bladder cancer, somatic}, 109800 (3); Congenital myopathy with excess of muscle spindles, 218040 (3), Autosomal dominant, Isolated cases; Costello syndrome, 218040 (3), Autosomal dominant, Isolated cases; {Nevus sebaceous or woolly hair nevus, somatic}, 162900 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); {Spitz nevus or nevus spilus, somatic}, 137550 (3); {Thyroid carcinoma, follicular, somatic}, 188470 (3) Hras (MGI:96224)
chr11 560970 564024 11p15.5 11p15.5 143023 RASSF7, C11orf13, HRC1 RAS association domain family, member 7 RASSF7 8045 ENSG00000099849 29kb 5' to HRAS1; divergently transcribed Rassf7 (MGI:1914235)
chr11 568088 568197 11p15.5 11p15.5 612982 MIR210, MIRN210 Micro RNA 210 MIR210 406992
chr11 576445 612221 11p15.5 11p15.5 611780 PHRF1, KIAA1542 PHD and RING finger domain-containing protein 1 PHRF1 57661 ENSG00000070047 Phrf1 (MGI:2141847)
chr11 612554 615998 11p15.5 11p15.5 605047 IRF7, IRF7A, IRF7B, IRF7C, IRF7H, IMD39 Interferon regulatory factor 7 IRF7 3665 ENSG00000185507 mutation identified in 1 family ?Immunodeficiency 39, 616345 (3), Autosomal recessive Irf7 (MGI:1859212)
chr11 616564 625066 11p15.5 11p15.5 606839 CDHR5, MUCDHL Cadherin-related family, member 5 CDHR5 53841 ENSG00000099834 Cdhr5 (MGI:1919290)
chr11 626094 627691 11p15.5 11p15.5 182099 SCT Secretin SCT 6343 ENSG00000070031
chr11 637304 640705 11p15.5 11p15.5 126452 DRD4 Dopamine receptor D4 DRD4 1815 ENSG00000069696 proximal to HRAS {Attention deficit-hyperactivity disorder}, 143465 (3), Autosomal dominant; Autonomic nervous system dysfunction (3); [Novelty seeking personality], 601696 (1), ?Autosomal dominant Drd4 (MGI:94926)
chr11 644219 695753 11p15.5 11p15.5 602635 DEAF1, SPN, ZMYND5, MRD24 Deaf1, Drosophila, homolog of DEAF1 10522 ENSG00000177030 mutation identified in 1 DYSEIDD family ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 (3), Autosomal recessive; Mental retardation, autosomal dominant 24, 615828 (3), Autosomal dominant Deaf1 (MGI:1858496)
chr11 706119 727726 11p15 11p15.5 614988 EPS8L2, EPS8R2, DFNB106 EPS8-like protein 2 EPS8L2 64787 ENSG00000177106 Deafness autosomal recessive 106, 617637 (3), Autosomal recessive Eps8l2 (MGI:2138828)
chr11 747431 765023 11p15.5-p15.4 11p15.5 602063 TALDO1 Transaldolase-1 TALDO1 6888 ENSG00000177156 pseudogene on chr.1 Transaldolase deficiency, 606003 (3), Autosomal recessive Taldo1 (MGI:1274789)
chr11 787109 790125 11p15.5 11p15.5 608213 CEND1, BM88 Cell cycle exit and neuronal differentiation 1 CEND1 51286 ENSG00000184524 Cend1 (MGI:1929898)
chr11 790474 798280 11p15.5 11p15.5 609302 SLC25A22, GC1, EIEE3 Solute carrier family 25 (mitochondrial carrier, glutamate), member 22 SLC25A22 79751 ENSG00000177542 Epileptic encephalopathy, early infantile, 3, 609304 (3), Autosomal recessive Slc25a22 (MGI:1915517)
chr11 799178 809866 11p15.5 11p15.5 605247 PIDD1, LRDD p53-induced death domain protein 1 PIDD1 55367 ENSG00000177595 Pidd1 (MGI:1889507)
chr11 809935 812875 11p15.5 11p15.5 180530 RPLP2 Ribosomal phosphoprotein, large, P2 RPLP2 6181 ENSG00000177600 Rplp2 (MGI:1914436)
chr11 818889 825572 11p15.5 11p15.5 609059 PNPLA2, TTS2, ATGL Patatin-like phospholipase domain-containing protein 2 PNPLA2 57104 ENSG00000177666 Neutral lipid storage disease with myopathy, 610717 (3), Autosomal recessive Pnpla2 (MGI:1914103)
chr11 825557 831990 11p15.5 11p15.5 614177 EFCAB4A, CRACR2B EF-hand calcium-binding domain-containing protein 4A CRACR2B 283229 ENSG00000177685 Cracr2b (MGI:2446129)
chr11 832951 838834 11p15.5 11p15.5 602243 CD151, PETA3, SFA1, MER2 CD151 antigen CD151 977 ENSG00000177697 [Blood group, Raph], 179620 (3); Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3) Cd151 (MGI:1096360)
chr11 839720 842528 11p15 11p15.5 601189 POLR2L, RPB10 Polymerase II, RNA, subunit L POLR2L 5441 ENSG00000177700 Polr2l (MGI:1913741)
chr11 842823 867115 11p15.5 11p15.5 602644 TSPAN4, TM4SF7, NAG2 Tetraspanin 4 TSPAN4 7106 ENSG00000214063 Tspan4 (MGI:1928097)
chr11 867858 915057 11p15.5 11p15.5 615692 CHID1, SICLP Chitinase domain-containing protein 1 CHID1 66005 ENSG00000177830 Chid1 (MGI:1915288)
chr11 925808 1012244 11p15.5 11p15.5 607242 AP2A2, KIAA0899 Adaptor-related protein complex 2, alpha-2 subunit AP2A2 161 ENSG00000183020 Ap2a2 (MGI:101920)
chr11 1012823 1036705 11p15.5-p15.4 11p15.5 158374 MUC6 Mucin 6, gastric MUC6 4588 ENSG00000184956 order: tel-HRAS-MUC6-MUC2-MUC5AC-MUC5B-IGF2-cen Muc6 (MGI:2663233)
chr11 1074874 1110507 11p15.5 11p15.5 158370 MUC2 Mucin 2, intestinal/tracheal MUC2 4583 ENSG00000198788 Muc2 (MGI:1339364)
chr11 1157952 1201137 11p15.5 11p15.5 158373 MUC5AC, MUC5 Mucin 5, subtypes A and C, tracheobronchial/gastric MUC5AC 4586 ENSG00000215182 Muc5ac (MGI:104697)
chr11 1223064 1262175 11p15 11p15.5 600770 MUC5B Mucin 5, subtype B, tracheobronchial MUC5B 727897 ENSG00000117983 {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3), Autosomal dominant Muc5b (MGI:1921430)
chr11 1274367 1309661 11p15.5 11p15.5 606277 TOLLIP Toll-interacting protein TOLLIP 54472 ENSG00000078902 Tollip (MGI:1891808)
chr11 1389898 1462688 11p15.5 11p15.5 609236 BRSK2, SAD1, PEN11B BR serine/threonine kinase 2 BRSK2 9024 ENSG00000174672 Brsk2 (MGI:1923020)
chr11 1469447 1486778 11p15.5 11p15.5 611969 HCCA2 HCCA2 gene MOB2 81532 ENSG00000182208 Mob2 (MGI:1919891)
chr11 1554050 1572838 11p15.5 11p15.5 602038 DUSP8, HVH8 Dual specificity phosphatase-8 DUSP8 1850 ENSG00000184545 pseudogene on 10q11.2 Dusp8 (MGI:106626)
chr11 1584341 1585282 11p15.5 11p15.5 148022 KRTAP5-1, KRN1L Keratin associated protein 5-1 KRTAP5-1 387264 ENSG00000205869
chr11 1752751 1763991 11p15.5 11p15.5 116840 CTSD, CPSD, CLN10 Cathepsin D (lysosomal aspartyl protease) CTSD 1509 ENSG00000117984 Ceroid lipofuscinosis, neuronal, 10, 610127 (3), Autosomal recessive Ctsd (MGI:88562)
chr11 1827483 1837520 11p15.5 11p15.5 607719 SYT8 Synaptotagmin 8 SYT8 90019 ENSG00000149043 Syt8 (MGI:1859867)
chr11 1839002 1841679 11p15.5 11p15.5 191043 TNNI2, AMCD2B, DA2B, FSSV Troponin I, fast-twitch skeletal muscle isoform TNNI2 7136 ENSG00000130598 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3), Autosomal dominant Tnni2 (MGI:105070)
chr11 1852969 1892262 11p15.5 11p15.5 153432 LSP1 Lymphocyte-specific protein pp52 LSP1 4046 ENSG00000130592 Lsp1 (MGI:96832)
chr11 1919550 1938705 11p15.5 11p15.5 600692 TNNT3, AMCD2B, DA2B, FSSV Troponin-T3, skeletal, fast TNNT3 7140 ENSG00000130595 Arthrogryposis, distal, type 2B, 601680 (3), Autosomal dominant Tnnt3 (MGI:109550)
chr11 1947271 2013175 11p15.5 11p15.5 600789 RPL23L, L23MRP, MRPL23 Ribosomal protein L23-like (L23 mitochondrial-related protein) MRPL23 6150 ENSG00000214026 Mrpl23 (MGI:1196612)
chr11 1995175 2001465 11p15.5 11p15.5 103280 H19, D11S813E, ASM1, BWS, WT2 H19 gene H19 283120 same 200kb fragment as IGF2 Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant; Silver-Russell syndrome, 180860 (3), Isolated cases; Wilms tumor 2, 194071 (3), Autosomal dominant, Somatic mutation
chr11 1996758 1996830 11p15.5 11p15.5 615509 MIR675 Micro RNA 675 MIR675 100033819
chr11 1998744 2003508 11p15.5 11p15.5 616186 ICR1 H19-IGF2-imprinting control region 105259599 Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant
chr11 2129111 2149602 11p15.5 11p15.5 147470 IGF2, GRDF Insulin-like growth factor-2, or somatomedin A IGF2 3481 ENSG00000167244 mutation identified in 1 GRDF family ?Growth restriction, severe, with distinctive facies, 616489 (3), Autosomal dominant Igf2 (MGI:96434)
chr11 2140511 2148665 11p15.5 11p15.5 610146 IGF2AS, PEG8 Insulin-like growth factor II, antisense IGF2-AS 51214
chr11 2159778 2161208 11p15.5 11p15.5 176730 INS, MODY10, IDDM2 Insulin INS 3630 ENSG00000254647 5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH Diabetes mellitus, insulin-dependent, 2, 125852 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal, 606176 (3), Autosomal recessive, Autosomal dominant; Hyperproinsulinemia, 616214 (3), Autosomal dominant; Maturity-onset diabetes of the young, type 10, 613370 (3), Autosomal dominant Ins2 (MGI:96573)
chr11 2163928 2174080 11p15.5 11p15.5 191290 TH, TYH Tyrosine hydroxylase TH 7054 ENSG00000180176 distal to HRAS1 Segawa syndrome, recessive, 605407 (3), Autosomal recessive Th (MGI:98735)
chr11 2268497 2270951 11p15.5 11p15.5 601886 ASCL2 Achaete-scute complex, Drosophila, homolog-like 2 ASCL2 430 ENSG00000183734 Ascl2 (MGI:96920)
chr11 2295639 2303048 11p15.5 11p15.5 611033 C11orf21 Chromosome 11 open reading frame 21 C11orf21 29125 ENSG00000110665
chr11 2299479 2318200 11p15.5 11p15.5 603853 TSPAN32, PHEMX, TSSC6 Tetraspanin 32 TSPAN32 10077 ENSG00000064201 not imprinted Tspan32 (MGI:1350360)
chr11 2376176 2397418 11p 11p15.5 186845 CD81, TAPA1, CVID6 CD81 antigen (target of antiproliferative antibody-1) CD81 975 ENSG00000110651 Immunodeficiency, common variable, 6, 613496 (3), Autosomal recessive Cd81 (MGI:1096398)
chr11 2398411 2403877 11p15.5 11p15.5 603852 TSSC4 Tumor-suppressing subchromosomal transferable fragment cDNA 4 TSSC4 10078 ENSG00000184281 not imprinted Tssc4 (MGI:1861712)
chr11 2403961 2423423 11p15.5 11p15.5 604600 TRPM5, MTR1 Transient receptor potential cation channel, subfamily M, member 5 (MLSN1- and TRP-related gene 1) TRPM5 29850 ENSG00000070985 maternal allele imprinted Trpm5 (MGI:1861718)
chr11 2444990 2849109 11p15.5 11p15.5-p15.4 607542 KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2 Potassium voltage-gated channel, KQT-like subfamily, member 1 KCNQ1 3784 ENSG00000053918 Atrial fibrillation, familial, 3, 607554 (3), Autosomal dominant; Jervell and Lange-Nielsen syndrome, 220400 (3), Autosomal recessive; Long QT syndrome 1, 192500 (3), Autosomal dominant; {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3), Autosomal dominant; Short QT syndrome 2, 609621 (3), Autosomal dominant Kcnq1 (MGI:108083)
chr11 2608327 2699997 11p15.5 11p15.5 604115 KCNQ1OT1, LIT1 KCNQ1-overlapping transcript 1 KCNQ1OT1 10984 Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant
chr11 2800000 11700000 11p15.4 616121 GVINP1, VLIG1 GTPase, very large interferon-inducible, pseudogene 1 GVINP1 387751
chr11 2870032 2872104 11p15.5 11p15.4 610980 KCNQ1DN KCNQ1 downstream neighbor KCNQ1DN 55539
chr11 2883217 2885803 11p15.5 11p15.4 600856 CDKN1C, KIP2, BWS, IMAGE Cyclin-dependent kinase inhibitor 1C (p57, Kip2) CDKN1C 1028 ENSG00000129757 rare cause of BWS Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant; IMAGE syndrome, 614732 (3), Autosomal dominant
chr11 2887343 2905503 11p15.5 11p15.4 603240 SLC22A1LS, ORCTL2S, BWSCR1B Solute carrier family 22, member 1-like-antisense SLC22A18AS 5003 ENSG00000254827
chr11 2899720 2925245 11p15.5 11p15.4 602631 SLC22A1L, BWSCR1A, IMPT1 Solute carrier family 22, member 1-like (Beckwith-Wiedemann region 1A; organic-cation transporter-like 2) SLC22A18 5002 ENSG00000110628 Breast cancer, somatic, 114480 (3); Lung cancer, somatic, 211980 (3); Rhabdomyosarcoma, somatic, 268210 (3) Slc22a18 (MGI:1336884)
chr11 2928272 2929419 11p15.5 11p15.4 602131 PHLDA2, TSSC3, IPL, BRW1C Pleckstrin homology-like domain, family A, member 2 PHLDA2 7262 ENSG00000181649 Phlda2 (MGI:1202307)
chr11 2944429 2992376 11p15.5 11p15.4 601651 NAP1L4, NAP2L, NAP2 Nucleosome assembly protein 1-like 4 NAP1L4 4676 ENSG00000205531 Nap1l4 (MGI:1316687)
chr11 3000921 3057450 11p15.5 11p15.4 123859 CARS Cysteinyl-tRNA synthetase CARS 833 ENSG00000110619 Cars (MGI:1351477)
chr11 3087115 3165351 11p15.4 11p15.4 606733 OSBPL5, ORP5, KIAA1534 Oxysterol-binding protein-like protein 5 OSBPL5 114879 ENSG00000021762 Osbpl5 (MGI:1930265)
chr11 3217943 3218812 11p15.5 11p15.4 607234 MRGPRG, MRGG MAS-related G protein-coupled receptor family, member G MRGPRG 386746 ENSG00000182170 Mrgprg (MGI:3033145)
chr11 3227652 3232385 11p15.4 11p15.4 607232 MRGPRE, MRGE Mas-related G protein-coupled receptor family, member E MRGPRE 116534 ENSG00000184350 Mrgpre (MGI:2441884)
chr11 3357926 3379221 11p15.5 11p15.4 602187 ZNF195 Zinc finger protein-195 ZNF195 7748 ENSG00000005801
chr11 3380960 3409147 11p15.5 11p15.4 608999 TSSC2 Tumor-suppressing subtransferable fragment candidate gene 2 TSSC2 650368
chr11 3638502 3642391 11p15 11p15.4 610625 ART5 ADP-ribosyltransferase 5 ART5 116969 ENSG00000167311 Art5 (MGI:107948)
chr11 3645109 3665515 11p15 11p15.4 601625 ART1 ADP-ribosyltransferase 1 ART1 417 ENSG00000129744 Art1 (MGI:107511)
chr11 3665586 3673628 11p15.5 11p15.4 606372 CHRNA10 Cholinergic receptor, neuronal nicotinic, alpha polypeptide 10 CHRNA10 57053 ENSG00000129749 Chrna10 (MGI:3609260)
chr11 3675009 3797791 11p15 11p15.4 601021 NUP98 Nucleoporin, 98kD NUP98 4928 ENSG00000110713 fused with HOXA9, NSD1, NSD3, PMX1, HOXC13, DDX10, TOP1, HOXD11 in myeloid leukemia Nup98 (MGI:109404)
chr11 3797723 3826370 11p15.5 11p15.4 615187 PGAP2, FRAG1, HPMRS3, MRT17, MRT21 Post-GPI attachment to proteins 2 PGAP2 27315 ENSG00000148985 Hyperphosphatasia with mental retardation syndrome 3, 614207 (3), Autosomal recessive
chr11 3826977 3840982 11p15.5-p15.4 11p15.4 179505 ARHG ras homolog gene family, member G (rho G) RHOG 391 ENSG00000177105 Rhog (MGI:1928370)
chr11 3855702 4093209 11p15.5 11p15.4 605921 STIM1, TAM1, IMD10, STRMK Stromal interaction molecule 1 STIM1 6786 ENSG00000167323 Immunodeficiency 10, 612783 (3), Autosomal recessive; Myopathy, tubular aggregate, 1, 160565 (3), Autosomal dominant; Stormorken syndrome, 185070 (3), Autosomal dominant Stim1 (MGI:107476)
chr11 4094684 4138924 11p15.5 11p15.4 180410 RRM1 Ribonucleotide reductase, M1 polypeptide RRM1 6240 ENSG00000167325 Rrm1 (MGI:98180)
chr11 4384896 4393695 11p15.5 11p15.4 109092 TRIM21, SSA1, RO52 Tripartite motif-containing protein 21 TRIM21 6737 ENSG00000132109 Trim21 (MGI:106657)
chr11 4598671 4608258 11p15.4 11p15.4 613184 TRIM68, SS56, GC109 Tripartite motif-containing protein 68 TRIM68 55128 ENSG00000167333 incorrectly assigned to 2p24 by FISH Trim68 (MGI:2142077)
chr11 4643925 4655487 11p15.4 11p15.4 611267 OR51E1, DGPCR, PSGR2 Olfactory receptor, family 51, subfamily E, member 1 OR51E1 143503 ENSG00000180785 Olfr558 (MGI:3030392)
chr11 4680170 4697845 11p15.4 11p15.4 611268 OR51E2, PSGR Olfactory receptor, family 51, subfamily E, member 2 OR51E2 81285 ENSG00000167332 Olfr78 (MGI:2157548)
chr11 4988190 4992428 11p15 11p15.4 605470 MMP26 Matrix metalloproteinase 26 (matrilysin 2) MMP26 56547 ENSG00000167346
chr11 5225465 5227070 11p15.5 11p15.4 141900 HBB Hemoglobin beta HBB 3043 ENSG00000244734 pseudogene HBBP1 between HBG and HBD loci Delta-beta thalassemia, 141749 (3), Autosomal dominant; Erythremias, beta- (3); Heinz body anemias, beta-, 140700 (3), Autosomal dominant; Hereditary persistence of fetal hemoglobin, 141749 (3), Autosomal dominant; {Malaria, resistance to}, 611162 (3); Methemoglobinemias, beta- (3); Sickle cell anemia, 603903 (3), Autosomal recessive; Thalassemia-beta, dominant inclusion-body, 603902 (3); Thalassemias, beta-, 613985 (3) Hbb-bt,Hbb-bs (MGI:5474850,MGI:5474852)
chr11 5232828 5234627 11p15.5 11p15.4 142000 HBD Hemoglobin delta HBD 3045 ENSG00000223609 Thalassemia due to Hb Lepore (3); Thalassemia, delta- (3)
chr11 5244553 5245545 11p15.4 11p15.4 616308 BGLT3, LINC01083 Beta-globin locus transcript 3, noncoding BGLT3 103344929
chr11 5248271 5249856 11p15.5 11p15.4 142200 HBG1 Hemoglobin, gamma A HBG1 3047 ENSG00000213934 Fetal hemoglobin quantitative trait locus 1, 141749 (3), Autosomal dominant
chr11 5253190 5254780 11p15.5 11p15.4 142250 HBG2, TNCY Hemoglobin, gamma G HBG2 3048 ENSG00000196565 Cyanosis, transient neonatal, 613977 (3), Autosomal dominant; Fetal hemoglobin quantitative trait locus 1, 141749 (3), Autosomal dominant Hbb-y (MGI:96027)
chr11 5268349 5270142 11p15.5 11p15.4 142100 HBE1 Hemoglobin epsilon HBE1 3046 ENSG00000213931 Hbb-bh1 (MGI:96024)
chr11 5269924 5304185 11p15.5 11p15.4 152424 LCRB Locus control region beta 109580095 Thalassemia, Hispanic gamma-delta-beta, 613985 (3)
chr11 5507299 5509984 11p15 11p15.4 605473 UBQLN3 Ubiquilin 3 UBQLN3 50613 ENSG00000175520 Ubqln3 (MGI:3045291)
chr11 5590905 5685108 11p15 11p15.4 608487 TRIM5, RNF88 Tripartite motif-containing protein 5 TRIM5 85363 ENSG00000132256 Trim5,Trim12c (MGI:4821183,MGI:3646853)
chr11 5596100 5612957 11p15 11p15.4 607564 TRIM6 Tripartite motif-containing protein 6 TRIM6 117854 ENSG00000121236 Trim6 (MGI:2137352)
chr11 5619943 5644397 11p15.4-p15.3 11p15.4 605684 TRIM34, RNF21, IFP1 Tripartite motif-containing 34 (RING finger protein-21) TRIM34 53840 ENSG00000258659
chr11 5689586 5710862 11p15 11p15.4 606559 TRIM22, STAF50 Tripartite motif-containing protein 22 TRIM22 10346 ENSG00000132274
chr11 6259673 6272126 11p15.5-p15.4 11p15.4 118445 CCKBR, GASR Cholecystokinin B receptor CCKBR 887 ENSG00000110148 Cckbr (MGI:99479)
chr11 6390413 6394997 11p15.4-p15.1 11p15.4 607608 SMPD1, NPD Sphingomyelin phosphodiesterase-1, acid lysosomal SMPD1 6609 ENSG00000166311 Niemann-Pick disease, type A, 257200 (3), Autosomal recessive; Niemann-Pick disease, type B, 607616 (3), Autosomal recessive Smpd1 (MGI:98325)
chr11 6395123 6419829 11p15 11p15.4 602709 APBB1, FE65 Amyloid beta A4 precursor protein-binding, family B, member-1 APBB1 322 ENSG00000166313 Apbb1 (MGI:107765)
chr11 6431037 6441023 11p15.5-p15.4 11p15.4 142290 HPX Hemopexin HPX 3263 ENSG00000110169 Hpx (MGI:105112)
chr11 6448612 6474458 11p15.4 11p15.4 605493 TRIM3, RNF22, BERP Tripartite motif-containing 3 TRIM3 10612 ENSG00000110171 Trim3 (MGI:1860040)
chr11 6474682 6481478 11p15.4 11p15.4 601638 ARFIP2, POR1 ADP-ribosylation factor-interacting protein 2 ARFIP2 23647 ENSG00000132254 Arfip2 (MGI:1924182)
chr11 6481446 6484680 11p15.5-p15.2 11p15.4 607388 FXC1, TIMM10B Fracture callus 1, rat, homolog of TIMM10B 26515 ENSG00000132286 Timm10b (MGI:1315196)
chr11 6497295 6572024 11p15.4 11p15.4 617277 DHND1, FLJ00251 Dynein heavy chain domain 1 DNHD1 144132 ENSG00000179532 Dnhd1 (MGI:1924755)
chr11 6514829 6603677 11p15.4 11p15.4 615818 RRP8, NML, KIAA0409 Ribosomal RNA processing protein 8, homolog of RRP8 23378 ENSG00000132275 Rrp8 (MGI:1914251)
chr11 6603707 6610873 11p15.5-p15.4 11p15.4 602366 ILK, P59 Integrin-linked kinase ILK 3611 ENSG00000166333 Ilk (MGI:1195267)
chr11 6610816 6612243 11p15.3 11p15.4 600475 TAF10, TAF2H, TAF2A TAF10 RNA polymerase II, TATA box-binding protein-associated factor, 30kD TAF10 6881 ENSG00000166337 Taf10 (MGI:1346320)
chr11 6612765 6619460 11p15.5 11p15.4 607998 TPP1, CLN2, SCAR7 Tripeptidyl peptidase 1 TPP1 1200 ENSG00000166340 Ceroid lipofuscinosis, neuronal, 2, 204500 (3), Autosomal recessive; Spinocerebellar ataxia, autosomal recessive 7, 609270 (3), Autosomal recessive Tpp1 (MGI:1336194)
chr11 6621323 6655848 11p15.4 11p15.4 603057 DCHS1, PCDH16, FIB1, CDH19, VMLDS1, MVP2 Dachsous, Drosophila, homolog of, 1 DCHS1 8642 ENSG00000166341 Mitral valve prolapse 2, 607829 (3), Autosomal dominant; Van Maldergem syndrome 1, 601390 (3), Autosomal recessive Dchs1 (MGI:2685011)
chr11 6680384 6683400 11p15.5-p15.4 11p15.4 611830 MRPL17 Mitochondrial ribosomal protein L17 MRPL17 63875 ENSG00000158042 Mrpl17 (MGI:1351608)
chr11 6794524 6795907 11p15 11p15.4 608495 OR6A2, OR6A1 Olfactory receptor, family 6, subfamily A, member 2 OR6A2 8590 ENSG00000184933 Olfr2 (MGI:97432)
chr11 6845682 6846635 11p15.4 11p15.4 608493 OR10A1 Olfactory receptor, family 10, subfamily A, member 1 OR10A5 144124 ENSG00000166363 Olfr713 (MGI:3030547)
chr11 6891573 6892499 11p15.4 11p15.4 608494 OR2D2 Olfactory receptor, family 2, subfamily D, member 2 OR2D2 120776 ENSG00000166368 Olfr715,Olfr715b (MGI:3647188,MGI:3030549)
chr11 6926360 6991143 11p15.4 11p15.4 605016 ZNF215 Zinc finger protein-215 ZNF215 7762 ENSG00000149054
chr11 6993481 7020366 11p15.4 11p15.4 605015 ZNF214 Zinc finger protein-214 ZNF214 7761 ENSG00000149050
chr11 7020445 7089024 11p15.4 11p15.4 609665 NLRP1, NALP14, NOD5 NLR family, pyrin domain containing 1 NLRP14 338323 ENSG00000158077 Nlrp14 (MGI:1924108)
chr11 7088933 7091147 11p15 11p15.4 605444 RBMXL2, HNRNPGT, HNRPGT RNA-binding motif protein, X chromosome, like 2 RBMXL2 27288 ENSG00000170748 Rbmxl2 (MGI:1923822)
chr11 7238783 7470031 11p15.4 11p15.4 613528 SYT9 Synaptotagmin 9 SYT9 143425 ENSG00000170743 Syt9 (MGI:1926373)
chr11 7665094 7678568 11p15.4 11p15.4 608342 CYB5R2 Cytochrome b5 reductase 2 CYB5R2 51700 ENSG00000166394 Cyb5r2 (MGI:2444415)
chr11 7959020 7965426 11p15 11p15.4 609662 NLRP10, NALP10, PYNOD, NOD8 NLR family, pyrin domain containing 10 NLRP10 338322 ENSG00000182261 Nlrp10 (MGI:2444084)
chr11 7987319 7996170 11p15.4 11p15.4 603914 EIF3F, EIF3S5 Eukaryotic translation initiation factor 3, subunit F EIF3F 8665 ENSG00000175390 Eif3f (MGI:1913335)
chr11 8019179 8106106 11p15.4 11p15.4 601197 TUB, RDOB Tubby, mouse, homolog of TUB 7275 ENSG00000166402 mutation identified in 1 RDOB family ?Retinal dystrophy and obesity, 616188 (3), Autosomal recessive Tub (MGI:2651573)
chr11 8092964 8169093 11p15.4 11p15.4 610509 RIC3 Resistance to inhibitors of cholinesterase 3, C. elegans, homolog of RIC3 79608 ENSG00000166405 Ric3 (MGI:2443887)
chr11 8224303 8268634 11p15 11p15.4 186921 LMO1, RBTN1, RHOM1 LIM domain only 1 (rhombotin 1) LMO1 4004 ENSG00000166407 Leukemia, T-cell acute lymphoblastic, 186921 (2) Lmo1 (MGI:102812)
chr11 8335028 8594288 11p15.3 11p15.4 607670 STK33 Serine/threonine protein kinase 33 STK33 65975 ENSG00000130413 Stk33 (MGI:2152419)
chr11 8612036 8683216 11p15.4 11p15.4 612000 TRIM66, TIF1D, KIAA0298 Tripartite motif-containing protein 66 TRIM66 9866 ENSG00000166436 Trim66 (MGI:2152406)
chr11 8682447 8689871 11p15 11p15.4 603637 RPL27A Ribosomal protein L27a RPL27A 6157 ENSG00000166441 Rpl27a (MGI:1347076)
chr11 8685438 8685568 11p15.4 11p15.4 611333 SNORA3B, SNORA45 Small nucleolar RNA, H/ACA box 3B SNORA3B 677826
chr11 8693351 8910950 11p15 11p15.4 140750 ST5, HTS1 Suppression of tumorigenicity-5 ST5 6764 ENSG00000166444 St5 (MGI:108517)
chr11 8911116 8920078 11p15.3 11p15.4 609191 AKIP1, BCA3, C11orf17 Protein kinase A-interacting protein 1 AKIP1 56672 ENSG00000166452 Akip1 (MGI:3041226)
chr11 8980575 9004650 11p15.3 11p15.4 613125 NRIP3 Nuclear receptor-interacting protein 3 NRIP3 56675 ENSG00000175352 Nrip3 (MGI:1925843)
chr11 9019499 9091606 11p15.4 11p15.4 611747 SCUBE2 Signal peptide-, CUB domain-, and EGF-like domains-containing protein 2 SCUBE2 57758 ENSG00000175356 Scube2 (MGI:1928765)
chr11 9138824 9265325 11p15.4 11p15.4 617278 DENND5A, RAB6IP1, KIAA1091, EIEE49 DENN domain-containing protein 5A DENND5A 23258 ENSG00000184014 Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive Dennd5a (MGI:1201681)
chr11 9384621 9448126 Chr.11 11p15.4 605586 IPO7, RANBP7 Importin 7 IPO7 10527 ENSG00000205339 Ipo7 (MGI:2152414)
chr11 9460964 9528523 11p15.4-p15.3 11p15.4 603433 ZNF143, SBF Zinc finger protein-143 ZNF143 7702 ENSG00000166478 Zfp143 (MGI:1277969)
chr11 9573680 9589766 11p15.3-p15.1 11p15.4 193525 WEE1 wee1+, S. pombe, homolog of WEE1 7465 ENSG00000166483 Wee1 (MGI:103075)
chr11 9664076 9752990 11p15 11p15.4 604762 SWAP70 Switch-associated protein 70 SWAP70 23075 ENSG00000133789 Swap70 (MGI:1298390)
chr11 9778666 10294206 11p15 11p15.4 607697 SBF2, MTMR13, CMT4B2 SET binding factor 2 (myotubularin-related 13) SBF2 81846 ENSG00000133812 Charcot-Marie-Tooth disease, type 4B2, 604563 (3), Autosomal recessive Sbf2 (MGI:1921831)
chr11 10304979 10307401 11p15.4 11p15.4 103275 ADM Adrenomedullin ADM 133 ENSG00000148926 Adm (MGI:108058)
chr11 10450320 10507578 11pter-p13 11p15.4 102772 AMPD3 Adenosine monophosphate deaminase-3, isoform E AMPD3 272 ENSG00000133805 [AMP deaminase deficiency, erythrocytic], 612874 (3), Autosomal recessive Ampd3 (MGI:1096344)
chr11 10511677 10541226 11p15 11p15.4 616641 RNF141, ZNF230 RING finger protein 141 RNF141 50862 ENSG00000110315 Rnf141 (MGI:1914400)
chr11 10557865 10568817 Chr.11 11p15.4 605702 LYVE1 Lymphatic vessel endothelial hyaluronan receptor 1 LYVE1 10894 ENSG00000133800 Lyve1 (MGI:2136348)
chr11 10573090 10693987 11p15.4-p15.3 11p15.4 604673 MRVI1, IRAG Murine retrovirus integration site 1, homolog of MRVI1 10335 ENSG00000072952 Mrvi1 (MGI:1338023)
chr11 10750986 10779754 11p15.3 11p15.4 609366 SH2BP1, KIAA0155, p150 SH2 domain-binding protein 1 CTR9 9646 ENSG00000198730 Ctr9 (MGI:109345)
chr11 10797045 10809034 11p15 11p15.4 602325 EIF4G2, DAP5 Eukaryotic translation initiation factor 4G-like 1 EIF4G2 1982 ENSG00000110321 Eif4g2 (MGI:109207)
chr11 10852703 10858072 11p15.3 11p15.4 615251 ZBED5, BUSTER1 Zinc finger BED domain-containing protein 5 ZBED5 58486 ENSG00000236287 Zbed5 (MGI:1919220)
chr11 11270873 11622013 11p15.3 11p15.4 615136 GALNT18, GALNACT18, GALNTL4 UPD-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 GALNT18 374378 ENSG00000110328 Galnt18 (MGI:2446239)
chr11 11841422 11959324 11p15.3 11p15.3 614460 USP47 Ubiquitin-specific protease 47 USP47 55031 ENSG00000170242 Usp47 (MGI:1922246)
chr11 11962995 12009826 11p15.1 11p15.3 605416 DKK3, RIG Dickkopf, Xenopus, homolog of, 3 DKK3 27122 ENSG00000050165 Dkk3 (MGI:1354952)
chr11 12110575 12263789 11p15.3 11p15.3 608881 MICAL2, KIAA0750 Microtubule-associated monooxygenase, calponin and LIM domains-containing 2 MICAL2 9645 ENSG00000133816 Mical2 (MGI:2444947)
chr11 12286899 12362139 11p15.3 11p15.3 612355 MICALCL, EBITEIN1 MICAL C terminus-like protein MICALCL 84953 ENSG00000133816 Micalcl (MGI:1918127)
chr11 12376440 12535355 11p15 11p15.3 608120 PARVA Parvin, alpha PARVA 55742 ENSG00000197702 Parva (MGI:1931144)
chr11 12674421 12944736 11p15.2 11p15.3 189967 TEAD1, TCF13, REF1 TEA domain family member 1 TEAD1 7003 ENSG00000187079 Sveinsson chorioretinal atrophy, 108985 (3), Autosomal dominant Tead1 (MGI:101876)
chr11 13009422 13012105 11p15.2 11p15.3 614713 RASSF10 Ras association domain family, member 10 RASSF10 644943 ENSG00000189431 Rassf10 (MGI:1925998)
chr11 13276551 13387267 11p15 11p15.3 602550 ARNTL, BMAL1, TIC Aryl hydrocarbon receptor nuclear translocator-like ARNTL 406 ENSG00000133794 Arntl (MGI:1096381)
chr11 13387995 13463296 11p15.2 11p15.3 615933 BTBD10 BTB/POZ domain-containing protein 10 BTBD10 84280 ENSG00000148925 Btbd10 (MGI:1916065)
chr11 13492044 13496174 11p15.3-p15.1 11p15.3 168450 PTH Parathyroid hormone PTH 5741 ENSG00000152266 ~9cM distal to CALC1; distal to MYOD Hypoparathyroidism, autosomal dominant, 146200 (3), Autosomal dominant; Hypoparathyroidism, autosomal recessive, 146200 (3), Autosomal dominant Pth (MGI:97799)
chr11 13668658 13732345 11p15.2 11p15.3 616107 FAR1, MLSTD2, PFCRD Fatty acyl CoA reductase 1 FAR1 84188 ENSG00000197601 Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3), Autosomal recessive Far1 (MGI:1914670)
chr11 13962636 14268132 Chr.11 11p15.2 604989 SPON1 F-spondin, Rat, homolog of SPON1 10418 ENSG00000262655 Spon1 (MGI:2385287)
chr11 14277919 14364505 11pter-p15.5 11p15.2 600098 RRAS2, TC21 Related Ras viral oncogene homolog 2 RRAS2 22800 ENSG00000133818 Ovarian carcinoma (3) Rras2 (MGI:1914172)
chr11 14457502 14499894 11p15.2 11p15.2 600959 COPB1, COPB Coatomer protein complex, subunit beta 1 COPB1 1315 ENSG00000129083 Copb1 (MGI:1917599)
chr11 14504875 14643633 11p15.1 11p15.2 602854 PSMA1, PROS30 Proteasome subunit, alpha-type, 1 PSMA1 5682 ENSG00000129084 Psma1 (MGI:1347005)
chr11 14643690 14874138 11p15 11p15.2 602047 PDE3B Phosphodiesterase-3B, cGMP-inhibited PDE3B 5140 ENSG00000152270 Pde3b (MGI:1333863)
chr11 14878004 14898914 11p15.2 11p15.2 608713 CYP2R1 Cytochrome P450, subfamily IIR, polypeptide 1 (vitamin D 25-hydroxylase) CYP2R1 120227 ENSG00000186104 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3), Autosomal recessive Cyp2r1 (MGI:2449771)
chr11 14966667 14972360 11p15.2-p15.1 11p15.2 114130 CALCA, CALC1 Calcitonin/calcitonin-related polypeptide, alpha CALCA 796 ENSG00000110680 same 220kb fragment as CALCB
chr11 15073599 15078630 11p15.2-p15.1 11p15.2 114160 CALCB, CALC2 Calcitonin-related polypeptide, beta CALCB 797 ENSG00000175868 Calca (MGI:2151253)
chr11 15111415 15269674 11p15.2 11p15.2 610668 INSC Inscuteable, Drosophila, homolog of INSC 387755 ENSG00000188487 Insc (MGI:1917942)
chr11 15966448 16476387 11p15.3-p15.2 11p15.2 607257 SOX6 SRY-box 6 SOX6 55553 ENSG00000110693 Sox6 (MGI:98368)
chr11 16777296 17014422 11p15.1 11p15.2-p15.1 612686 PLEKHA7 Pleckstrin homology domain-containing protein, family A, member 7 PLEKHA7 144100 ENSG00000166689 Plekha7 (MGI:2445094)
chr11 17074391 17077672 11p 11p15.1 180476 RPS13 Ribosomal protein S13 RPS13 6207 ENSG00000110700 Rps13 (MGI:1915302)
chr11 17086574 17207995 11p15.1 11p15.1 603601 PIK3C2A, CPK Phosphatidylinositol 3-kinase, class 2, alpha PIK3C2A 5286 ENSG00000011405 Pik3c2a (MGI:1203729)
chr11 17260336 17349979 11p15-p14 11p15.1 608020 NUCB2, NEFA Nucleobindin 2 NUCB2 4925 ENSG00000070081 Nucb2 (MGI:1858179)
chr11 17351761 17377320 11p15.1 11p15.1 613714 B7H6 B7 homolog 6 NCR3LG1 374383 ENSG00000188211
chr11 17385245 17389330 11p15.1 11p15.1 600937 KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13 Potassium inwardly-rectifying channel, subfamily J, member 11 KCNJ11 3767 ENSG00000187486 4.5kb 3' of SUR Diabetes mellitus, transient neonatal, 3, 610582 (3), Autosomal dominant; {Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant; Diabetes, permanent neonatal, with or without neurologic features, 606176 (3), Autosomal recessive, Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3), Autosomal recessive; Maturity-onset diabetes of the young, type 13, 616329 (3), Autosomal dominant Kcnj11 (MGI:107501)
chr11 17392884 17476848 11p15.1 11p15.1 600509 ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 ATP-binding cassette, subfamily C, member 8 (sulfonylurea receptor) ABCC8 6833 ENSG00000006071 Diabetes mellitus, noninsulin-dependent, 125853 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal, 606176 (3), Autosomal recessive, Autosomal dominant; Diabetes mellitus, transient neonatal 2, 610374 (3); Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3), Autosomal recessive, Autosomal dominant; Hypoglycemia of infancy, leucine-sensitive, 240800 (3), Autosomal dominant Abcc8 (MGI:1352629)
chr11 17493894 17544415 11p15.1 11p15.1 605242 USH1C, DFNB18A Harmonin (Usher syndrome 1C gene) USH1C 10083 ENSG00000006611 Acadian and Samaritan variety Deafness, autosomal recessive 18A, 602092 (3), Autosomal recessive; Usher syndrome, type 1C, 276904 (3), Autosomal recessive Ush1c (MGI:1919338)
chr11 17547372 17645943 11p14.3 11p15.1 604487 OTOG, OTGN, DFNB18B Otogelin OTOG 340990 ENSG00000188162 Deafness, autosomal recessive 18B, 614945 (3), Autosomal recessive Otog (MGI:1202064)
chr11 17719562 17722130 11p15.4 11p15.1 159970 MYOD1, MYF3 Myogenic factor-3 MYOD1 4654 ENSG00000129152 proximal to CALCA, HBB, BWS, PTH; ?11p14.3 Myod1 (MGI:97275)
chr11 17734809 17783054 11p15 11p15.1 176258 KCNC1, EPM7 Potassium voltage-gated channel, Shaw-related subfamily, member 1 KCNC1 3746 ENSG00000129159 Epilepsy, progressive myoclonic 7, 616187 (3), Autosomal dominant Kcnc1 (MGI:96667)
chr11 17788047 18013161 11p14 11p15.1 606051 SERGEF, DELGEF Secretion-regulating guanine nucleotide exchange factor SERGEF 26297 ENSG00000129158 Sergef (MGI:1351630)
chr11 18020536 18040787 11p15.3-p14 11p15.1 191060 TPH1, TPH Tryptophan hydroxylase 1 (tryptophan-5-monooxygenase) TPH1 7166 ENSG00000129167 Tph1 (MGI:98796)
chr11 18120954 18138479 11p15.1 11p15.1 607229 MRGPRX3, MRGX3 Mas-related G protein-coupled receptor family, member X3 MRGPRX3 117195 ENSG00000179826 Mrgpra9,Mrgpra1,Mrgpra2b,Mrgpra2a (MGI:3033148,MGI:3033095,MGI:3033098,MGI:3821888)
chr11 18172836 18174279 11p15.1 11p15.1 607230 MRGPRX4, MRGX4 Mas-related G protein-coupled receptor family, member X4 MRGPRX4 117196 ENSG00000179817 Mrgprx1 (MGI:3033139)
chr11 18231354 18236836 11p15.1 11p15.1 104752 SAA4 Serum amyloid A4, constitutive SAA4 6291 ENSG00000148965
chr11 18238232 18248673 11p15.1 11p15.1 104751 SAA2 Serum amyloid A2 SAA2 6289 ENSG00000134339 pseudogene = SAA3
chr11 18266224 18269976 11p15.1 11p15.1 104750 SAA1 Serum amyloid A1 SAA1 6288 ENSG00000173432 Saa2,Saa1 (MGI:98221,MGI:98222)
chr11 18278669 18322497 11p15-p13 11p15.1 607521 HPS5, RU2, KIAA1017 HPS gene 5 (ruby-eye 2, mouse, homolog of) HPS5 11234 ENSG00000110756 Hermansky-Pudlak syndrome 5, 614074 (3), Autosomal recessive Hps5 (MGI:2180307)
chr11 18322268 18367042 11p15.1-p14 11p15.1 189972 GTF2H1 General transcription factor IIH, polypeptide 1 (62kD subunit) GTF2H1 2965 ENSG00000110768 within 50kb of LDHA Gtf2h1 (MGI:1277216)
chr11 18394388 18408217 11p15.4 11p15.1 150000 LDHA, LDH1, GSD11 Lactate dehydrogenase A LDHA 3939 ENSG00000134333 Glycogen storage disease XI, 612933 (3), Autosomal recessive Ldha (MGI:96759)
chr11 18412297 18451245 11p15.5-p15.3 11p15.1 150150 LDHC, LDH3 Lactate dehydrogenase C LDHC 3948 ENSG00000166796 closely linked to LDHB in other species; in man syntenic with LDHA; ?close to LDHA Ldhc (MGI:96764)
chr11 18480310 18526955 11p15.2-p15.1 11p15.1 601387 TSG101 Tumor susceptibility gene 101 TSG101 7251 ENSG00000074319 Breast cancer, somatic, 114480 (3) Tsg101 (MGI:106581)
chr11 18529605 18588837 11p15.2-p15.1 11p15.1 610985 UEVLD, UEV3, ATTP Ubiquitin E2 variant and lactate/malate dehydrogenase domains-containing protein UEVLD 55293 ENSG00000151116 Uevld (MGI:1860490)
chr11 18727927 18792720 11p15.2-p15.1 11p15.1 176879 PTPN5, STEP Protein tyrosine phosphatase, nonreceptor-type, 5 (striatum-enriched) PTPN5 84867 ENSG00000110786 Ptpn5 (MGI:97807)
chr11 18933812 18935001 11p15.1 11p15.1 607227 MRGPRX1, MRGX1 Mas-related G protein-coupled receptor family, member X1 MRGPRX1 259249 ENSG00000170255 Mrgprb2 (MGI:2441674)
chr11 19054454 19060680 11p15.1 11p15.1 607228 MRGPRX2, MRGX2 Mas-related G protein-coupled receptor family, member X2 MRGPRX2 117194 ENSG00000183695 Mrgprx2,Mrgprb1 (MGI:3033115,MGI:3588270)
chr11 19117098 19176419 11p15.1 11p15.1 612815 ZDHHC13, HIP14L Zinc finger DHHC domain-containing protein 13 ZDHHC13 54503 ENSG00000177054 Zdhhc13 (MGI:1919227)
chr11 19182029 19210570 11p15.1 11p15.1 600824 CSRP3, CRP3, CLP, CMD1M, CMH12 Cysteine- and glycine-rich protein 3 CSRP3 8048 ENSG00000129170 mutation identified in 1 CMD1M family ?Cardiomyopathy, dilated, 1M, 607482 (3); Cardiomyopathy, hypertrophic, 12, 612124 (3), Autosomal dominant Csrp3 (MGI:1330824)
chr11 19224062 19241654 11p15.1 11p15.1 612047 E2F8 E2F transcription factor 8 E2F8 79733 ENSG00000129173 E2f8 (MGI:1922038)
chr11 19345199 20121600 11p15.1 11p15.1 607026 NAV2, RAINB1, KIAA1419 Neuron navigator 2 NAV2 89797 ENSG00000166833 Nav2 (MGI:2183691)
chr11 20363684 20383782 11p15.1 11p15.1 605628 HTATIP2, TIP30, CC3 HIV-1 TAT-interacting protein 2, 30kD HTATIP2 10553 ENSG00000109854 Htatip2 (MGI:1859271)
chr11 20599399 20655063 11p15.2-p15.1 11p15.1 604159 SLC6A5, GLYT2, HKPX3 Solute carrier family 6 (neurotransmitter transporter, glycine), member 5 SLC6A5 9152 Hyperekplexia 3, 614618 (3), Autosomal recessive, Autosomal dominant Slc6a5 (MGI:105090)
chr11 20669550 21575685 11p15.2-p15.1 11p15.1 602319 NELL1 Nel-like 1 NELL1 4745 ENSG00000165973 Nell1 (MGI:2443902)
chr11 22000000 43400000 11p14.3-p12 185440 ST2 Suppression of tumorigenicity-2 ST2 6761
chr11 22000000 31000000 11p14 613636 TST1 Tuberculin skin test reactivity, absence of 100526790 at chr11:26.37M [Tuberculin skin test reactivity, absence of], 613636 (2)
chr11 22192484 22283366 11p14.3 11p14.3 608662 ANO5, TMEM16E, GDD1, LGMD2L Anoctamin 5 ANO5 203859 ENSG00000171714 Gnathodiaphyseal dysplasia, 166260 (3), Autosomal dominant; Miyoshi muscular dystrophy 3, 613319 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, type 2L, 611307 (3), Autosomal recessive Ano5 (MGI:3576659)
chr11 22338120 22379502 11p14.3 11p14.3 607563 SLC17A6, VGLUT2, DNPI Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 SLC17A6 57084 ENSG00000091664 Slc17a6 (MGI:2156052)
chr11 22622532 22625840 11p15 11p14.3 613897 FANCF Fanconi anemia, complementation group F FANCF 2188 ENSG00000183161 Fanconi anemia, complementation group F, 603467 (3) Fancf (MGI:3689889)
chr11 22627757 22885929 11p15.2-p14.3 11p14.3 602835 GAS2 Growth arrest-specific 2 GAS2 2620 ENSG00000148935 Gas2 (MGI:95657)
chr11 24496487 25082639 11p14-p13 11p14.3 608178 LUZP2 Leucine zipper protein 2 LUZP2 338645 ENSG00000187398 Luzp2 (MGI:1889615)
chr11 26189122 26667906 11p14 11p14.3-p14.2 610110 ANO3, TMEM16C, C11orf25, DYT24 Anoctamin 3 ANO3 63982 ENSG00000134343 Dystonia 24, 615034 (3), Autosomal dominant Ano3 (MGI:3613666)
chr11 26200000 63600000 11p14.2-q12.3 612642 DFNA59 Deafness, autosomal dominant 59 DFNA59 100271924 between D22S929 and D11S480 Deafness, autosomal dominant 59, 612642 (2), Autosomal dominant
chr11 26667018 26723355 11p14.2 11p14.2 612455 SLC5A12, SMCT2 Solute carrier family 5 (sodium/glucose cotransporter), member 12 SLC5A12 159963 ENSG00000148942 Slc5a12 (MGI:2138890)
chr11 26994080 26997086 11p14.2 11p14.2 617085 FIBIN Fin bud initiation factor, zebrafish, homolog of FIBIN 387758 ENSG00000176971 Fibin (MGI:1914856)
chr11 27040704 27127806 11p14.2 11p14.2 603312 BBOX1, BBOX Butyrobetaine-gamma, 2-oxoglutarate dioxygenase 1 BBOX1 8424 ENSG00000129151 Bbox1 (MGI:1891372)
chr11 27200000 31000000 11p14.1 612321 DCDC5, KIAA1493 Doublecortin domain-containing protein 5
chr11 27200000 48800000 11p14.1-p11.2 613364 SPG41 Spastic paraplegia 41 SPG41 100359402 max lod 2.36; between D11S1324 and D11S1993 ?Spastic paraplegia 41, autosomal dominant, 613364 (2), Autosomal dominant
chr11 27338513 27363247 11p14.1 11p14.1 612324 CCDC34 Coiled-coil domain-containing protein 34 CCDC34 91057 ENSG00000109881 Ccdc34 (MGI:1915451)
chr11 27365960 27472774 11p14.1 11p14.1 606666 LGR4, GPR48, BNMD17 Leucine-rich repeat-containing G protein-coupled receptor 4 LGR4 55366 ENSG00000205213 previously mapped to 5q34-q35.1 {Bone mineral density, low, susceptibility to}, 615311 (3) Lgr4 (MGI:1891468)
chr11 27494417 27506778 11p14.1 11p14.1 612332 LIN7C, VELI3, MALS3 Lin7, C. elegans, homolog of, C LIN7C 55327 ENSG00000148943 Lin7c (MGI:1330839)
chr11 27506851 27698170 11p14 11p14.1 611468 BDNFAS, BDNFOS BDNF antisense RNA BDNF-AS 497258
chr11 27654892 27722057 11p13 11p14.1 113505 BDNF, BULN2, ANON2 Brain-derived neurotrophic factor BDNF 627 ENSG00000176697 homeology with NRF3 on 12p; at p14 boundary {Anorexia nervosa, susceptibility to}, 610269 (3); {Bulimia nervosa, age of onset of weight loss in}, 607499 (3), Multifactorial; Central hypoventilation syndrome, congenital, 209880 (3), Autosomal dominant; {Memory impairment, susceptibility to} (3); {Obsessive-compulsive disorder, protection against}, 164230 (3), Autosomal dominant Bdnf (MGI:88145)
chr11 27888170 27891091 11p14.1 11p14.1 140575 HSP90AA2, HSPCAL3 Heat-shock protein, 90kD, alpha, class A, member 2 HSP90AA2P 3324
chr11 28020615 28108198 11p14 11p14.1 611271 KIF18A Kinesin family member 18A KIF18A 81930 ENSG00000121621 Kif18a (MGI:2446977)
chr11 28056814 28056909 11p14.1 11p14.1 612330 MIR610, MIRN610 Micro RNA 610 MIR610 693195
chr11 30009740 30017029 11q13.4-q14.1 11p14.1 176266 KCNA4, KCNA8 Potassium voltage-gated channel, shaker-related subfamily, member 4 KCNA4 3739 ENSG00000182255 other map to 11p Kcna4 (MGI:96661)
chr11 30231015 30235276 11p13 11p14.1 136530 FSHB, HH24 Follicle-stimulating hormone, beta polypeptide FSHB 2488 ENSG00000131808 distal to AN2 Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3), Autosomal recessive Fshb (MGI:95582)
chr11 30323098 30338457 11p14.1-p13 11p14.1 612295 C11orf46 Chromosome 11 open reading frame 46 ARL14EP 120534 ENSG00000152219 Arl14ep (MGI:1926020)
chr11 30384492 30586994 11p14-p13 11p14.1 600911 MPPED2, C11orf8, D11S302E, 239FB Metallophosphoesterase domain-containing protein 2 MPPED2 744 ENSG00000066382 Mpped2 (MGI:1924265)
chr11 30863602 31369809 11p13 11p14-p13 608062 DCDC1 Doublecortin domain-containing protein 1 DCDC1 341019 ENSG00000170959
chr11 31000000 63600000 11p13-q12 607644 CANDF3, CANDN1, FCNC Candidiasis, familial, 3 CANDN1 338434 between D11S1312 and D11S4191 Candidiasis, familial, 3, 607644 (2), Autosomal dominant
chr11 31000000 36400000 11p13 616902 DEL11p13, C11DELp13 Chromosome 11p13 deletion syndrome, distal Chromosome 11p13 deletion syndrome, distal, 616902 (4), Autosomal dominant
chr11 31000000 36400000 11p13 194072 DEL11p13, C11DELp13, WAGR Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome (chromosome 11p13 deletion syndrome) deletion of WT1 and PAX6 genes Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072 (4), Autosomal dominant, Somatic mutation
chr11 31000000 43400000 11p13-p12 609941 DFNB51 Deafness, autosomal recessive 51 DFNB51 448963 max lod at D11S4102 Deafness, autosomal recessive 51, 609941 (2), Autosomal recessive
chr11 31000000 36400000 11p13 117100 ECT, BECTS Centrotemporal epilepsy 100379198 previously assigned to 15q14 Centrotemporal epilepsy, 117100 (2), Isolated cases
chr11 31000000 43400000 11p13-p12 605750 EVR3 Exudative vitreoretinopathy 3 EVR3 81864 Exudative vitreoretinopathy 3, 605750 (2), Autosomal dominant
chr11 31000000 85900000 11p13-q14.1 614344 MRT23 Mental retardation, autosomal recessive 23 MRT23 100852398 between rs604518 and rs10899421 Mental retardation, autosomal recessive 23, 614344 (2), Autosomal recessive
chr11 31000000 36400000 11p13 609256 MYP7 Myopia 7 MYP7 553190 Myopia 7, 609256 (2), Multifactorial
chr11 31000000 43400000 11p13-p12 612469 WAGRO, DEL11p14p12 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome contiguous gene deletion syndrome WAGRO syndrome, 612469 (4)
chr11 31369829 31432834 11p13 11p13 611072 DPH4 DPH4, S. cerevisiae, homolog of DNAJC24 120526 ENSG00000170946 Dnajc24 (MGI:1919522)
chr11 31432398 31509643 11p13 11p13 612323 IMMP1L, IMP1 Inner mitochondrial membrane peptidase, subunit 1, S. cerevisiae, homolog of IMMP1L 196294 ENSG00000148950 Immp1l (MGI:1913791)
chr11 31509728 31784524 11p13 11p13 606985 ELP4, PAX6NEB, AN2 Elongation protein 4, S. cerevisiae, homolog of ELP4 26610 ENSG00000109911 mutation identified in 1 AN2 patient ?Aniridia 2, 617141 (3), Autosomal dominant Elp4 (MGI:1925016)
chr11 31784791 31817960 11p13 11p13 607108 PAX6, AN2, MGDA, FVH1, ASGD5 Paired box homeotic gene-6 PAX6 5080 ENSG00000007372 mutation identified in 1 patient each with MDGA, COLBN, or COLB Aniridia, 106210 (3), Autosomal dominant; Anterior segment dysgenesis 5, multiple subtypes, 604229 (3); Cataract with late-onset corneal dystrophy, 106210 (3), Autosomal dominant; ?Coloboma of optic nerve, 120430 (3), Autosomal dominant; ?Coloboma, ocular, 120200 (3), Autosomal dominant; Foveal hypoplasia 1, 136520 (3), Autosomal dominant; Keratitis, 148190 (3), Autosomal dominant; ?Morning glory disc anomaly, 120430 (3), Autosomal dominant; Optic nerve hypoplasia, 165550 (3), Autosomal dominant Pax6 (MGI:97490)
chr11 32090930 32105725 11p13 11p13 602735 RCN1 Reticulocalbin 1 RCN1 5954 ENSG00000049449 Rcn1 (MGI:104559)
chr11 32387774 32435538 11p13 11p13 607102 WT1, NPHS4 Wilms tumor-1 WT1 7490 ENSG00000184937 clumped: pter-FSHB-AN2-WT1-CAT Denys-Drash syndrome, 194080 (3), Autosomal dominant, Somatic mutation; Frasier syndrome, 136680 (3), Autosomal dominant, Somatic mutation; Meacham syndrome, 608978 (3); Mesothelioma, somatic, 156240 (3); Nephrotic syndrome, type 4, 256370 (3), Autosomal dominant; Wilms tumor, type 1, 194070 (3), Autosomal dominant, Somatic mutation Wt1 (MGI:98968)
chr11 32435517 32458768 11p13 11p13 607899 WT1AS, WIT1 WT1 antisense RNA WT1-AS 51352
chr11 32583766 32602872 11p13 11p13 609641 EIF3M, PCID1, B5, GA17 Eukaryotic translation initiation factor 3, subunit M EIF3M 10480 ENSG00000149100 Eif3m (MGI:1351744)
chr11 32602079 32794657 11p13 11p13 612328 CCDC73 Coiled-coil domain-containing protein 73 CCDC73 493860 ENSG00000186714 Ccdc73 (MGI:3606488)
chr11 32829755 32858122 11p13 11p13 611690 PRRG4, PRGP4, TMG4 Proline-rich gamma-carboxyglutamic acid protein 4 PRRG4 79056 ENSG00000135378 Prrg4 (MGI:2442211)
chr11 33015863 33033581 11p13 11p13 612294 DEPDC7, TR2 DEP domain-containing protein 7 DEPDC7 91614 ENSG00000121690 Depdc7 (MGI:2139258)
chr11 33076149 33079453 11p14.1-p13 11p13 612296 LOC283267 LOC283267 gene LINC00294 283267
chr11 33084583 33161490 11p13 11p13 600367 CSTF3 Cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD CSTF3 1479 ENSG00000176102 Cstf3 (MGI:1351825)
chr11 33256671 33357022 11p13 11p13 604424 HIPK3, PKY, DYRK6 Homeodomain-interacting protein kinase-3 HIPK3 10114 ENSG00000110422 Hipk3 (MGI:1314882)
chr11 33376568 33674101 11p13 11p13 612297 C11orf41, G2 Chromosome 11 open reading frame 41 KIAA1549L 25758 ENSG00000110427 D430041D05Rik (MGI:2181743)
chr11 33703009 33736478 11p13 11p13 107271 CD59, MIC11 CD59 antigen (p18-20) CD59 966 ENSG00000085063 in mouse Ly-6 = multigene complex Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3), Autosomal recessive Cd59b (MGI:1888996)
chr11 33740943 33774524 11p13 11p13 609089 FBXO3, FBX3, FBA F-box only protein 3 FBXO3 26273 ENSG00000110429 Fbxo3 (MGI:1929084)
chr11 33858575 33892288 11p13 11p13 180385 LMO2, RBTNL1, RHOM2, TTG2 LIM domain only 2 (rhombotin-like 1) LMO2 4005 ENSG00000135363 3rd rhombotin gene not on 11 Leukemia, acute T-cell, 180385 (2) Lmo2 (MGI:102811)
chr11 34051662 34102609 11p13 11p13 601178 CAPRIN1, M11S1, GPIAP1, GRIP137 Cell cycle associated protein 1 CAPRIN1 4076 ENSG00000135387 Caprin1 (MGI:1858234)
chr11 34105563 34146910 11p13 11p13 609221 NAT10, ALP, KIAA1709 N-acetyltransferase 10 NAT10 55226 ENSG00000135372 Nat10 (MGI:2138939)
chr11 34438924 34472059 11p13 11p13 115500 CAT Catalase CAT 847 ENSG00000121691 cen-CAT-WT1-AN2-pter Acatalasemia, 614097 (3) Cat (MGI:88271)
chr11 34478790 34513799 11p15-p13 11p13 605169 ELF5, ESE2 E74-like factor 5 (epithelium-specific ETS factor 2) ELF5 2001 ENSG00000135374
chr11 34621040 34663287 11p12 11p13 605439 EHF, ESE3 ETS homologous factor EHF 26298 ENSG00000135373 Ehf (MGI:1270840)
chr11 34882294 34916410 11p13 11p13 612491 APIP, CGI29, MMRP19 APAF1-interacting protein APIP 51074 ENSG00000149089 Apip (MGI:1926788)
chr11 34915828 34996127 11p13 11p13 608769 PDHX, PDX1, E3BP, PDHXD Pyruvate dehydrogenase complex, lipoyl-containing component X PDHX 8050 ENSG00000110435 Lacticacidemia due to PDX1 deficiency, 245349 (3), Autosomal recessive Pdhx (MGI:1351627)
chr11 35138869 35232401 11pter-p13 11p13 107269 CD44, MDU2, MDU3, MIC4, IN CD44 antigen (homing function) CD44 960 ENSG00000026508 [Blood group, Indian system], 609027 (3) Cd44 (MGI:88338)
chr11 35251204 35420062 11p13-p12 11p13 600300 SLC1A2, EAAT2, EIEE41 Solute carrier family 1 (glial high affinity glutamate transporter), member 2 SLC1A2 6506 ENSG00000110436 Epileptic encephalopathy, early infantile, 41, 617105 (3), Autosomal dominant Slc1a2 (MGI:101931)
chr11 35618186 35620872 11p13 11p13 612206 FJX1 Four-jointed box, Drosophila, homolog of, 1 FJX1 24147 ENSG00000179431 Fjx1 (MGI:1341907)
chr11 35662691 35811052 11p13 11p13 612298 TRIM44, AN3 Tripartite motif-containing protein 44 TRIM44 54765 ENSG00000166326 mutation identified in 1 AN3 family ?Aniridia 3, 617142 (3), Autosomal dominant Trim44 (MGI:1931835)
chr11 36272291 36289448 11p13 11p13 612299 COMM9 COMM domain-containing protein 9 COMMD9 29099 ENSG00000110442 Commd9 (MGI:1923751)
chr11 36296174 36465203 11p13-p12 11p13-p12 611728 PRR5L, PROTOR2, FLJ14213 Proline-rich protein 5-like PRR5L 79899 ENSG00000135362 Prr5l (MGI:1919696)
chr11 36400000 43400000 11p12 611739 BMND8 Bone mineral density QTL 8 100188854 between D11S1392 and D11S4102 {Osteoporosis}, 166710 (2), Autosomal dominant
chr11 36400000 53400000 11p12-p11 610898 PSNP3 Supranuclear palsy, progressive, 3 100038248 Supranuclear palsy, progressive, 3, 610898 (2)
chr11 36483766 36510312 11p12 11p12 602355 TRAF6 TNF receptor-associated factor 6 TRAF6 7189 ENSG00000175104 Traf6 (MGI:108072)
chr11 36510365 36579761 11p13 11p12 179615 RAG1 Recombination activating gene-1 RAG1 5896 ENSG00000166349 assignment to 14 in error Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3); Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive; Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive Rag1 (MGI:97848)
chr11 36591942 36598278 11p13 11p12 179616 RAG2 Recombination activating gene-2 RAG2 5897 ENSG00000175097 assignment to 14 in error Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive; Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive Rag2 (MGI:97849)
chr11 40107065 41460418 11p12 11p12 608817 LRRC4C, NGL1, KIAA1580 Leucine rich repeat containing 4C (netrin-G1 ligand) LRRC4C 57689 ENSG00000148948 Lrrc4c (MGI:2442636)
chr11 43311954 43344529 11p12 11p12 609774 API5, AAC11 Apoptosis inhibitor 5 API5 8539 ENSG00000166181 Api5 (MGI:1888993)
chr11 43400000 53400000 11p11 609630 CLLS1 Leukemia, chronic lymphocytic, susceptibility to, 1 100188791 {Leukemia, chronic lymphocytic, susceptibility to, 1}, 609630 (2)
chr11 43400000 48800000 11p11.2 616229 OI16, C16DELp11.2, DEL16p11.2 Osteogenesis imperfecta, type XVI (chromosome 11p11.2 deletion syndrome, 91.3kb) Osteogenesis imperfecta, type XVI, 616229 (4), Autosomal recessive
chr11 43400000 48800000 11p11.2 601224 PSS Potocki-Shaffer syndrome contiguous gene syndrome caused by deletion of 11p11.2 Potocki-Shaffer syndrome, 601224 (4)
chr11 43400000 48800000 11p11.2 191270 TYRL Tyrosinase-like TYRL 7300
chr11 43880806 43920274 11p11.12 11p11.2 610603 ALKBH3, PCA1, DEPC1, ABH3 AlkB, E. coli, homolog of, 3 ALKBH3 221120 ENSG00000166199 Alkbh3 (MGI:1916363)
chr11 44066117 44084236 11p11 11p11.2 608405 ACCS, ACS, PHACS 1-aminocyclopropane-1-carboxylate synthase ACCS 84680 ENSG00000110455 Accs (MGI:1919717)
chr11 44095548 44245429 11p12-p11 11p11.2 608210 EXT2, SSMS Exostosin 2 EXT2 2132 ENSG00000151348 mutation identified in 1 SSMS family Exostoses, multiple, type 2, 133701 (3), Autosomal dominant; ?Seizures, scoliosis, and macrocephaly syndrome, 616682 (3), Autosomal recessive Ext2 (MGI:108050)
chr11 44260727 44310165 11p11.2 11p11.2 605420 ALX4, PFM2, FPP, FND2, CRS5 Aristaless-like 4, mouse, homolog of ALX4 60529 ENSG00000052850 {Craniosynostosis 5, susceptibility to}, 615529 (3), Autosomal dominant; Frontonasal dysplasia 2, 613451 (3), Autosomal recessive; Parietal foramina 2, 609597 (3), Autosomal dominant Alx4 (MGI:108359)
chr11 44565590 44620362 11p11.2 11p11.2 600623 CD82, SAR2, KAI1, ST6 CD82 antigen CD82 3732 ENSG00000085117 {Prostate cancer, susceptibility to}, 176807 (2), Autosomal dominant Cd82 (MGI:104651)
chr11 44932347 44951305 11p11.2 11p11.2 617867 TP53I11, PIG11 Tumor protein p53-inducible protein 11 TP53I11 9537 ENSG00000175274 Trp53i11 (MGI:2670995)
chr11 45094012 45235123 11p11.2 11p11.2 616347 PRDM11, PFM8 PR domain-containing protein 11 PRDM11 56981 ENSG00000019485 Prdm11 (MGI:2685553)
chr11 45240301 45286332 Chr.11 11p11.2 607716 SYT13, KIAA1427 Synaptotagmin 13 SYT13 57586 ENSG00000019505 Syt13 (MGI:1933945)
chr11 45647688 45665655 11p11.2-p11.1 11p11.2 603797 CHST1, KSGAL6ST Carbohydrate sulfotransferase-1 CHST1 8534 ENSG00000175264 Chst1 (MGI:1924219)
chr11 45804071 45813015 11p11.2 11p11.2 605881 SLC35C1, FUCT1, CDG2C Solute carrier family 35, member C1 (GDP-Fucose transporter 1) SLC35C1 55343 ENSG00000181830 Congenital disorder of glycosylation, type IIc, 266265 (3), Autosomal recessive Slc35c1 (MGI:2443301)
chr11 45847117 45883247 Chr.11 11p11.2 603732 CRY2 Cryptochrome 2 CRY2 1408 ENSG00000121671 Cry2 (MGI:1270859)
chr11 45885495 45906464 11p12-p11.2 11p11.2 604641 MAPK8IP1, IB1 Mitogen-activated protein kinase 8-interacting protein 1 MAPK8IP1 9479 ENSG00000121653 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant Mapk8ip1 (MGI:1309464)
chr11 45909668 45918122 11p12-p11.2 11p11.2 603360 PEX16, PBD8A, PBD8B Peroxisome biogenesis factor 16 PEX16 9409 Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3), Autosomal recessive; Peroxisome biogenesis disorder 8B, 614877 (3), Autosomal recessive Pex16 (MGI:1338829)
chr11 45921620 45929095 11p11.2 11p11.2 609709 GYLTL1B, LARGE2 Glycosyltransferase-like 1B LARGE2 120071 ENSG00000165905 Large2 (MGI:2443769)
chr11 45929318 46121433 11p11.2 11p11.2 608325 PHF21A, BHC80, KIAA1696 PHD finger protein 21A PHF21A 51317 ENSG00000135365 Phf21a (MGI:2384756)
chr11 46277637 46321421 11p11.2 11p11.2 616215 CREB3L1, OASIS cAMP response element-binding protein 3-like 1 CREB3L1 90993 ENSG00000157613 Creb3l1 (MGI:1347062)
chr11 46332904 46380553 11p11.2 11p11.2 601441 DGKZ Diacylglycerol kinase, zeta, 104kD DGKZ 8525 ENSG00000149091 Dgkz (MGI:1278339)
chr11 46380783 46383836 11p11.2 11p11.2 162096 MDK, NEGF2 Midkine (neurite growth-promoting factor 2) MDK 4192 ENSG00000110492 Mdk (MGI:96949)
chr11 46384791 46386607 11p12-p11.2 11p11.2 118495 CHRM4 Cholinergic receptor, muscarinic, 4 CHRM4 1132 ENSG00000180720 Chrm4 (MGI:88399)
chr11 46396411 46594068 11p11.2 11p11.2 611359 AMBRA1, KIAA1736 Activating molecule in beclin 1-regulated autophagy AMBRA1 55626 ENSG00000110497 Ambra1 (MGI:2443564)
chr11 46603026 46617893 11p11.2 11p11.2 615086 HARBI1 Harbinger transposase-derived gene 1 HARBI1 283254 ENSG00000180423 Harbi1 (MGI:2443194)
chr11 46617275 46676018 11p11.2 11p11.2 615088 ATG13, KIAA0652, PARATARG8 Autophagy 13, S. cerevisiae, homolog of ATG13 9776 ENSG00000175224 Atg13 (MGI:1196429)
chr11 46677074 46700664 11p12-q12 11p11.2 602732 ARHGAP1, RHOGAP1, CDC42GAP RHO GTPase-activating protein 1 ARHGAP1 392 ENSG00000175220 Arhgap1 (MGI:2445003)
chr11 46700766 46705915 11p11.2 11p11.2 616454 ZNF408, EVR6, RP72 Zinc finger protein 408 ZNF408 79797 ENSG00000175213 mutation identified in 1 EVR6 family ?Exudative vitreoretinopathy 6, 616468 (3), Autosomal dominant; Retinitis pigmentosa 72, 616469 (3), Autosomal recessive Zfp408 (MGI:2685857)
chr11 46719165 46739507 11p11-q12 11p11.2 176930 F2, THPH1, RPRGL2 Coagulation factor II (thrombin) F2 2147 ENSG00000180210 Dysprothrombinemia, 613679 (3), Autosomal recessive; Hypoprothrombinemia, 613679 (3), Autosomal recessive; {Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3), Autosomal dominant; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial; Thrombophilia due to thrombin defect, 188050 (3), Autosomal dominant F2 (MGI:88380)
chr11 46743533 46846307 11p11.2 11p11.2 611142 CKAP5, CHTOG, MSPS, KIAA0097 Cytoskeleton-associated protein 5 CKAP5 9793 ENSG00000175216 Ckap5 (MGI:1923036)
chr11 46854714 46918621 11p12-p11.2 11p11.2 604270 LRP4, MEGF7, CLSS, SOST2, CMS17 Low density lipoprotein receptor-related protein 4 LRP4 4038 ENSG00000134569 mutation identified in 1 CMS17 family Cenani-Lenz syndactyly syndrome, 212780 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 17, 616304 (3), Autosomal recessive; Sclerosteosis 2, 614305 (3), Autosomal recessive, Autosomal dominant Lrp4 (MGI:2442252)
chr11 47164297 47177124 11p11.2-p11.12 11p11.2 606908 ARFGAP2, ZNF289 ADP-ribosylation factor GTPase-activating protein 2 ARFGAP2 84364 ENSG00000149182 Arfgap2 (MGI:1924288)
chr11 47177520 47186458 11p11 11p11.2 606513 PACSIN3 Protein kinase C and casein kinase substrate in neurons 3 PACSIN3 29763 ENSG00000165912 Pacsin3 (MGI:1891410)
chr11 47214941 47239217 11p12-p11 11p11.2 600811 DDB2 Damage-specific DNA binding protein 2, 48kD DDB2 1643 ENSG00000134574 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3), Autosomal recessive Ddb2 (MGI:1355314)
chr11 47239301 47248846 11p11.2 11p11.2 171650 ACP2 Acid phosphatase 2, lysosomal ACP2 53 ENSG00000134575 ?Lysosomal acid phosphatase deficiency, 200950 (1), Autosomal recessive Acp2 (MGI:87882)
chr11 47248299 47269032 11p11.2 11p11.2 602423 NR1H3, LXRA Nuclear receptor subfamily 1, group H, member 3 NR1H3 10062 ENSG00000025434 Nr1h3 (MGI:1352462)
chr11 47269375 47330030 11p11.2 11p11.2 603584 MADD, DENN MAP kinase-activating death domain (differentially expressed in normal and neoplastic cells) MADD 8567 ENSG00000110514 Madd (MGI:2444672)
chr11 47331405 47352701 11p11.2 11p11.2 600958 MYBPC3, CMH4, CMD1MM, LVNC10 Myosin-binding protein C, cardiac MYBPC3 4607 ENSG00000134571 Cardiomyopathy, dilated, 1MM, 615396 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 4, 115197 (3), Autosomal dominant; Left ventricular noncompaction 10, 615396 (3), Autosomal dominant Mybpc3 (MGI:102844)
chr11 47354857 47395639 11p11.2 11p11.2 165170 SPI1, SFPI1 Oncogene SPI1 SPI1 6688 ENSG00000066336 Spi1 (MGI:98282)
chr11 47407131 47416500 11p11.2 11p11.2 608735 SLC39A13, ZIP13, EDSSPD3 Solute carrier family 39 (zinc transporter), member 13 SLC39A13 91252 ENSG00000165915 Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3), Autosomal recessive Slc39a13 (MGI:1915677)
chr11 47418768 47426472 11p13-p12 11p11.2 186852 PSMC3, TBP1 Proteasome (prosome, macropain) 26S subunit, ATPase, 3 PSMC3 5702 ENSG00000165916 Psmc3 (MGI:1098754)
chr11 47437756 47449177 11p11.2-p11.1 11p11.2 601592 RAPSN, CMS1D, CMS11, FADS Receptor-associated protein of the synapse, 43kD RAPSN 5913 ENSG00000165917 Fetal akinesia deformation sequence, 208150 (3), Autosomal recessive; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3), Autosomal recessive Rapsn (MGI:99422)
chr11 47465932 47565568 11p11 11p11.2 601074 CELF1, CUGBP1, NAB50, BRUNOL2, CUGBP CUGbp and ELAV-like family, member 1 CELF1 10658 ENSG00000149187
chr11 47572196 47579014 11p11.2 11p11.2 617645 KBTBD4, HSPC252, BKLHD4 KELCH repeat- and BTB/POZ domain-containing protein 4 KBTBD4 55709 ENSG00000123444 Kbtbd4 (MGI:1914386)
chr11 47579009 47584562 11p11.11 11p11.2 603846 NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kD NDUFS3 4722 ENSG00000213619 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufs3 (MGI:1915599)
chr11 47589663 47596335 11p11.2 11p11.2 614911 C1QTNF4, CTRP4 C1q- and tumor necrosis factor-related protein 4 C1QTNF4 114900 ENSG00000172247 C1qtnf4 (MGI:1914695)
chr11 47604308 47642653 11q12.1 11p11.2 613221 MTCH2 Mitochondrial carrier homolog 2 MTCH2 23788 ENSG00000109919 Mtch2 (MGI:1929260)
chr11 47659167 47715381 11p11.2 11p11.2 617345 AGBL2, CCP2 ATP/GTP-binding protein-like 2 AGBL2 79841 ENSG00000165923 Agbl2 (MGI:2443254)
chr11 47716493 47767477 11p11.2 11p11.2 615265 FNBP4, FBP30, KIAA1014 Formin-binding protein 4 FNBP4 23360 ENSG00000109920 Fnbp4 (MGI:1860513)
chr11 47778082 47848543 11p11.2 11p11.2 607614 NUP160, KIAA0197 Nucleoporin, 160kD NUP160 23279 ENSG00000030066 Nup160 (MGI:1926227)
chr11 47980503 48170841 11p11.2 11p11.2 600925 PTPRJ, DEP1 Protein tyrosine phosphatase, receptor type, J polypeptide PTPRJ 5795 ENSG00000149177 Colon cancer, somatic, 114500 (3) Ptprj (MGI:104574)
chr11 49145093 49208669 11p11.2 11p11.12 600934 FOLH1, FOLH, PSM, PSMA Folate hydrolase 1 (prostate-specific membrane antigen) FOLH1 2346 ENSG00000086205 ?pseudogene on 11q14
chr11 54603068 54603997 11p11.12 11q11 614273 OR4C46 Olfactory receptor, family 4, subfamily C, member 46 OR4C46 119749 ENSG00000185926 Olfr1258 (MGI:3031092)
chr11 55800000 77400000 11q12.1-q13.5 135610 FNL2 Fibronectin-like-2
chr11 55800000 66100000 11q12-q13.1 612795 PURAQTL1 Polyunsaturated fatty acids plasma level QTL1 100302559 associated with rs174537 [Polyunsaturated fatty acids plasma level QTL1], 612795 (2)
chr11 55800000 63600000 11q12 608687 SCA20, DUP11q12, C11DUPq12 Spinocerebellar ataxia 20 (chromosome 11q12 duplication syndrome, 260kb) contiguous gene duplication syndrome Spinocerebellar ataxia 20, 608687 (4), Autosomal dominant
chr11 55935455 55936399 11q12.1 11q12.1 608496 OR5I1, OLF1 Olfactory receptor, family 5, subfamily I, member 1 OR5I1 10798 ENSG00000167825 Olfr152 (MGI:1313139)
chr11 55993680 55994624 11q12.1 11q12.1 608492 OR5F1 Olfactory receptor, family 5, subfamily F, member 1 OR5F1 338674 ENSG00000149133
chr11 57181746 57191713 11q12.1 11q12.1 615213 LRRC55 Leucine-rich repeat-containing protein 55 LRRC55 219527 ENSG00000183908 Lrrc55 (MGI:2685197)
chr11 57233576 57237452 11q12 11q12.1 600052 APLNR, AGTRL1, APJ Apelin receptor APLNR 187 ENSG00000134817 Aplnr (MGI:1346086)
chr11 57299628 57324951 11q12 11q12.1 607104 TNKS1BP1, TAB182, KIAA1741 Tankyrase 1-binding protein 1, 182kD TNKS1BP1 85456 ENSG00000149115 Tnks1bp1 (MGI:2446193)
chr11 57325984 57335876 11q12 11q12.1 604328 SSRP1, FACT Structure-specific recognition protein 1 SSRP1 6749 ENSG00000149136 Ssrp1 (MGI:107912)
chr11 57335942 57372398 11q12 11q12.1 600843 P2RX3, P2X3 Purinergic receptor P2X, ligand-gated ion channel, 3 P2RX3 5024 ENSG00000109991 P2rx3 (MGI:1097160)
chr11 57376768 57381149 11cen-q12 11q12.1 606814 PRG3, MBPH Proteoglycan 3 PRG3 10394 ENSG00000156575 Prg3 (MGI:1858200)
chr11 57386786 57390656 11cen-q12 11q12.1 605601 PRG2, MBP Proteoglycan 2 PRG2 5553 ENSG00000186652 Prg2 (MGI:103294)
chr11 57460536 57477538 11q12.1 11q12.1 610462 RTN4RL2, NGRH1, NGR2 Reticulon 4 receptor-like 2 RTN4RL2 349667 ENSG00000186907 Rtn4rl2 (MGI:2669796)
chr11 57484530 57516560 11p11.2-p11.1 11q12.1 603733 SLC43A1, LAT3, POV1 Solute carrier family 43 (L-type amino acid transporter), member 1 SLC43A1 8501 ENSG00000149150 Slc43a1 (MGI:1931352)
chr11 57528462 57542504 11q12.1-q12.3 11q12.1 602251 TIMM10, TIM10A, TIM10 Translocase of inner mitochondrial membrane 10, yeast, homolog of TIMM10 26519 ENSG00000134809 Timm10 (MGI:1353429)
chr11 57536840 57550273 11q12.1 11q12.1 613664 SMTNL1, CHASM Smoothelin-like 1 SMTNL1 219537 ENSG00000214872 Smtnl1 (MGI:1915928)
chr11 57551654 57568329 11q12 11q12.1 603890 UBE2L6, UBCH8 Ubiquitin-conjugating enzyme E2L 6 UBE2L6 9246 ENSG00000156587 Ube2l6 (MGI:1914500)
chr11 57597553 57614852 11q11-q13.1 11q12.1 606860 C1NH, HAE1, HAE2, SERPING1 Complement component-1 inhibitor SERPING1 710 ENSG00000149131 Angioedema, hereditary, types I and II, 106100 (3), Autosomal recessive, Autosomal dominant; Complement component 4, partial deficiency of, 120790 (3), Autosomal dominant Serping1 (MGI:894696)
chr11 57641197 57641285 11q12 11q12.1 610175 MIR130A, MIRN130A Micro RNA 130A MIR130A 406919
chr11 57645086 57649943 11q12.1 11q12.1 609725 YPEL4 Yippee-like 4 YPEL4 219539 ENSG00000166793 Ypel4 (MGI:3605071)
chr11 57657743 57661864 11q12.1 11q12.1 608757 CLP1, HEAB, PCH10 Cleavage and polyadenylation factor I subunit 1, yeast, homolog of CLP1 10978 ENSG00000172409 Pontocerebellar hypoplasia, type 10, 615803 (3), Autosomal recessive Clp1 (MGI:2138968)
chr11 57668001 57701186 11q12.1 11q12.1 614586 ZDHHC5, DHHC5, ZNF375, KIAA1748 Zinc finger DHHC domain-containing protein 5 ZDHHC5 25921 ENSG00000156599 Zdhhc5 (MGI:1923573)
chr11 57703708 57712526 11q12.1 11q12.1 612385 MED19 Mediator complex subunit 19 MED19 219541 ENSG00000156603 Med19 (MGI:1914234)
chr11 57712522 57740972 11cen-q22.3 11q12.1 616715 TMX2 Thioredoxin-related transmembrane protein 2 TMX2 51075 ENSG00000213593 Tmx2 (MGI:1914208)
chr11 57741249 57743553 11q12.1 11q12.1 607914 SELENOH, SELH Selenoprotein H SELENOH 280636 ENSG00000211450 Selenoh (MGI:1919907)
chr11 57761761 57819179 11q11 11q12.1 601045 CTNND1, CTNND, BCDS2 Catenin (cadherin-associated protein), delta 1 CTNND1 1500 ENSG00000198561 Blepharocheilodontic syndrome 2, 617681 (3), Autosomal dominant Ctnnd1 (MGI:105100)
chr11 58526870 58578238 11q12.1 11q12.1 605390 LPXN Leupaxin LPXN 9404 ENSG00000110031 Lpxn (MGI:2147677)
chr11 58622672 58625732 11q12.2 11q12.1 118945 CNTF Ciliary neurotrophic factor CNTF 1270 ENSG00000242689 Cntf (MGI:88439)
chr11 58708756 58731973 11q12.1 11q12.1 607424 GLYAT, ACGNAT, CAT Glycine-N-acyltransferase GLYAT 10249 ENSG00000149124 Glyat (MGI:2147502)
chr11 58834064 58905839 11q12.1 11q12.1 614762 GLYATL2 Glycine N-acyltransferase-like 2 GLYATL2 219970 ENSG00000156689
chr11 58905397 58957073 11q12.1 11q12.1 614761 GLYATL1 Glycine-N-acyltransferase-like 1 GLYATL1 92292 ENSG00000166840
chr11 59107184 59127414 11q12.1 11q12.1 615584 FAM111B, POIKTMP Family with sequence similarity 111, member B FAM111B 374393 ENSG00000189057 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3), Autosomal dominant
chr11 59142745 59155038 11q12.1 11q12.1 615292 FAM111A, KIAA1895, KCS2, GCLEB Family with sequence similarity 111, member A FAM111A 63901 ENSG00000166801 Gracile bone dysplasia, 602361 (3), Autosomal dominant; Kenny-Caffey syndrome, type 2, 127000 (3), Autosomal dominant Fam111a (MGI:1915508)
chr11 59171429 59208586 11q12.1 11q12.1 616110 DTX4, RNF155, KIAA0937 Deltex, Drosoophila, homolog of, 4 DTX4 23220 ENSG00000110042 Dtx4 (MGI:2672905)
chr11 59208509 59213020 11q12.1 11q12.1 610390 MPEG1, MPG1 Macrophage expressed gene 1 MPEG1 219972 ENSG00000197629 Mpeg1 (MGI:1333743)
chr11 59364458 59365393 11q12.1 11q12.1 615702 OR5AN1 Olfactory receptor, family 5, subfamily AN, member 1 OR5AN1 390195 ENSG00000176495 Olfr1434 (MGI:3031268)
chr11 59574397 59616143 11q12.1 11q12.1 167040 OSBP Oxysterol-binding protein OSBP 5007 ENSG00000110048 Osbp (MGI:97447)
chr11 59636715 59669037 11q12.1 11q12.1 614660 PATL1, PAT1B Protein associated with topoisomerase II, S. cerevisiae, homolog of, 1 PATL1 219988 ENSG00000166889 Patl1 (MGI:2147679)
chr11 59755058 59805881 11q12.1 11q12.1 600876 STX3, STX3A Syntaxin 3 STX3 6809 ENSG00000166900 Stx3 (MGI:103077)
chr11 59806134 59810871 11q12-q13.1 11q12.1 611829 MRPL16 Mitochondrial ribosomal protein L16 MRPL16 54948 ENSG00000166902 Mrpl16 (MGI:2137219)
chr11 59829267 59845500 11q13 11q12.1 609342 GIF, IF Gastric intrinsic factor GIF 2694 ENSG00000134812 Intrinsic factor deficiency, 261000 (3), Autosomal recessive Gif (MGI:1202394)
chr11 59852807 59866567 11q11-q12 11q12.1 189905 TCN1, TC1 Transcobalamin I TCN1 6947 ENSG00000134827
chr11 60056627 60071115 11q12-q13 11q12.1 606498 MS4A3, HTM4, CD20L Membrane-spanning 4-domains, subfamily A, member 3 MS4A3 932 ENSG00000149516 Ms4a3 (MGI:2158468)
chr11 60088260 60098466 11q13 11q12.1 147138 MS4A2, FCER1B Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for, beta polypeptide) MS4A2 2206 ENSG00000149534 {Atopy, susceptibility to}, 147050 (3), Autosomal dominant Ms4a2 (MGI:95495)
chr11 60171606 60184665 11q12-q13 11q12.2 606548 MS4A6A, MS4A6 Membrane-spanning 4-domains, subfamily A, member 6A MS4A6A 64231 ENSG00000110077 Ms4a6d (MGI:1916024)
chr11 60201252 60243123 11q12-q13.1 11q12.2 608401 MS4A4E Membrane-spanning 4-domains, subfamily A, member 4E MS4A4E 643680 ENSG00000214787
chr11 60280540 60308971 11q12-q13 11q12.2 606547 MS4A4A, MS4A4 Membrane-spanning 4-domains, subfamily A, member 4A MS4A4A 51338 ENSG00000110079 Ms4a4a (MGI:3643932)
chr11 60334881 60340967 11q12-q13.1 11q12.2 608402 MS4A6E Membrane-spanning 4-domains, subfamily A, member 6E MS4A6E 245802 ENSG00000166926
chr11 60378484 60395953 11q12-q13 11q12.2 606502 MS4A7, CFFM4 Membrane-spanning 4-domains, subfamily A, member 7 MS4A7 58475 ENSG00000166927 Ms4a7 (MGI:1918846)
chr11 60429588 60447791 11q12-q13 11q12.2 606499 MS4A5, TETM4, CD20L2 Membrane-spanning 4-domains, subfamily A, member 5 MS4A5 64232 ENSG00000166930 Ms4a5 (MGI:2670985)
chr11 60455808 60470751 11q13 11q12.2 112210 MS4A1, CD20, CVID5 Membrane-spanning 4-domains, subfamily A, member 1 MS4A1 931 ENSG00000156738 Immunodeficiency, common variable, 5, 613495 (3), Autosomal recessive Ms4a1 (MGI:88321)
chr11 60492742 60507429 11q12-q13 11q12.2 606550 MS4A12 Membrane-spanning 4-domains, subfamily A, member 12 MS4A12 54860 ENSG00000071203 Ms4a12 (MGI:2685812)
chr11 60699573 60715810 11q12-q13 11q12.2 606549 MS4A8B Membrane-spanning 4-domains, subfamily A, member 8B MS4A8 83661 ENSG00000166959 Ms4a8a (MGI:1927657)
chr11 60785331 60801304 11q12-q13.1 11q12.2 608403 MS4A10 Membrane-spanning 4-domains, subfamily A, member 10 MS4A10 341116 ENSG00000172689 Ms4a10 (MGI:1917076)
chr11 60841955 60851087 11q12 11q12.2 611293 CCDC86, CYCLON Coiled-coil domain-containing protein 86 CCDC86 79080 ENSG00000110104 Ccdc86 (MGI:1277220)
chr11 60850924 60855970 11q12.2 11q12.2 604837 PTGDR2, GPR44 Prostaglandin D2 receptor 2 PTGDR2 11251 ENSG00000183134 Ptgdr2 (MGI:1330275)
chr11 60867541 60875692 11q12.2 11q12.2 195000 ZP1, OOMD1 Zona pellucida glycoprotein 1 ZP1 22917 ENSG00000149506 Oocyte maturation defect 1, 615774 (3), Autosomal recessive Zp1 (MGI:103073)
chr11 60890546 60906588 11q12.2 11q12.2 608330 PRPF19, PRP19, PSO4, NMP200 Precursor mRNA-processing factor 19, S. cerevisiae, homolog of PRPF19 27339 ENSG00000110107 Prpf19 (MGI:106247)
chr11 60924440 60937158 11q12.2 11q12.2 617363 TMEM132A, KIAA1583 Transmembrane protein 132A TMEM132A 54972 ENSG00000006118 Tmem132a (MGI:2147810)
chr11 60937082 60952080 11q12 11q12.2 610408 SLC15A3, PHT2 Solute carrier family 15 (oligopeptide transporter), member 3 SLC15A3 51296 ENSG00000110446 Slc15a3 (MGI:1929691)
chr11 60971640 61020376 Chr.11 11q12.2 186720 CD6, TP120 CD6 antigen CD6 923 ENSG00000013725 Cd6 (MGI:103566)
chr11 61093962 61127851 11q13 11q12.2 153340 CD5, LEU1 CD5 antigen (p56-62) CD5 921 ENSG00000110448 Cd5 (MGI:88340)
chr11 61130255 61161443 11q12.2 11q12.2 610038 VPS37C Vacuolar protein sorting 37, yeast, homolog of, C VPS37C 55048 ENSG00000167987 Vps37c (MGI:2147661)
chr11 61222348 61231694 11q13 11q12.2 169720 PGA4 Pepsinogen A4 PGA4 643847 ENSG00000229183
chr11 61241175 61251443 11q13 11q12.2 169730 PGA5 Pepsinogen A5 PGA5 5222 ENSG00000256713 pter-5'HRAS--5'INS--cen
chr11 61258285 61295315 11q11 11q12.2 611115 VWC1, URG11 von Willebrand factor C and EGF domain-containing protein VWCE 220001 ENSG00000167992 Vwce (MGI:1919018)
chr11 61299446 61333211 11q12-q13 11q12.2 600045 DDB1 Damage-specific DNA binding protein 1, 127kD DDB1 1642 ENSG00000167986 Ddb1 (MGI:1202384)
chr11 61333181 61353425 11q12.2 11q12.2 615844 DAK Dihydroxyacetone kinase 2, S. cerevisiae, homolog of TKFC 26007 ENSG00000149476 Tkfc (MGI:2385084)
chr11 61362000 61378223 11q12.2 11q12.2 614459 TMEM138, JBTS16 Transmembrane protein 138 TMEM138 51524 ENSG00000149483 Joubert syndrome 16, 614465 (3), Autosomal recessive Tmem138 (MGI:1920232)
chr11 61391981 61398862 11q12.2 11q12.2 613277 TMEM216, JBTS2, CORS2, MKS2 Transmembrane protein 216 TMEM216 51259 ENSG00000187049 Joubert syndrome 2, 608091 (3), Autosomal recessive; Meckel syndrome 2, 603194 (3), Autosomal recessive Tmem216 (MGI:1920020)
chr11 61430124 61446766 11q13.1 11q12.2 613019 SDHAF2, SDH5, PGL2 Succinate dehydrogenase complex assembly factor 2 SDHAF2 54949 ENSG00000167985 Paragangliomas 2, 601650 (3), Autosomal dominant Sdhaf2 (MGI:1913322)
chr11 61513715 61588403 11q13 11q12.2 604146 SYT7 Synaptotagmin 7 SYT7 9066 ENSG00000011347 Syt7 (MGI:1859545)
chr11 61680183 61747001 11q12.2 11q12.2 614015 DAGLA, KIAA0659 Diacylglycerol lipase, alpha DAGLA 747 ENSG00000134780 Dagla (MGI:2677061)
chr11 61752616 61788517 11q12-q13.1 11q12.2 608329 C11orf9, KIAA0954 Chromosome 11 open reading frame 9 MYRF 745 ENSG00000124920 Myrf (MGI:2684944)
chr11 61789129 61792612 11q12 11q12.2 617615 TMEM258, C11orf10 Transmembrane protein 258 TMEM258 746 ENSG00000134825 Tmem258 (MGI:1916288)
chr11 61792636 61797243 11q12 11q12.2 600393 FEN1 Flap structure-specific endonuclease 1 FEN1 2237 ENSG00000168496 Fen1 (MGI:102779)
chr11 61799624 61817056 11q12-q13.1 11q12.2 606148 FADS1 Fatty acid desaturase 1 FADS1 3992 ENSG00000149485 Fads1 (MGI:1923517)
chr11 61816202 61867353 11q12-q13.1 11q12.2 606149 FADS2 Fatty acid desaturase 2 FADS2 9415 ENSG00000134824 Fads2 (MGI:1930079)
chr11 61873522 61892223 11q12-q13.1 11q12.2 606150 FADS3 Fatty acid desaturase 3 FADS3 3995 ENSG00000221968 Fads3 (MGI:1928740)
chr11 61946721 61964464 11q13 11q12.3 607854 BEST1, VMD2, ARB, RP50 Bestrophin 1 BEST1 7439 ENSG00000167995 Bestrophinopathy, autosomal recessive, 611809 (3); Macular dystrophy, vitelliform, 2, 153700 (3), Autosomal dominant; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3), Autosomal dominant; Retinitis pigmentosa, concentric, 613194 (3); Retinitis pigmentosa-50, 613194 (3); Vitreoretinochoroidopathy, 193220 (3), Autosomal dominant Best1 (MGI:1346332)
chr11 61964284 61967659 11q12-q13 11q12.3 134770 FTH1, FTHL6, HFE5 Ferritin, heavy polypeptide 1 FTH1 2495 ENSG00000167996 mutation identified in 1 family ?Hemochromatosis, type 5, 615517 (3), Autosomal dominant Fth1 (MGI:95588)
chr11 62123972 62155473 11q12.3 11q12.3 604411 INCENP Inner centromere protein INCENP 3619 ENSG00000149503 Incenp (MGI:1313288)
chr11 62190237 62193536 11q12.3 11q12.3 615060 SCGB1D1, LPNA Secretoglobin, family 1D, member 1 SCGB1D1 10648 ENSG00000168515 previously mapped to 15q12-q13
chr11 62208667 62213938 11q12.3 11q12.3 604398 SCGB2A1, MGB2, LPNC Secretoglobin, family 2A, member 1 (mammaglobin 2) SCGB2A1 4246 ENSG00000124939
chr11 62242251 62244807 11q12.3 11q12.3 615061 SCGB1D2, LPNB Secretoglobin, family 1D, member 2 SCGB1D2 10647 ENSG00000124935 previously mapped to 10q23
chr11 62270129 62273159 11q12.3-q13.1 11q12.3 605562 MGB1, SCGB2A2 Mammaglobin 1 (secretoglobin, family 2A, member 2) SCGB2A2 4250 ENSG00000110484
chr11 62296281 62299063 11q12.3 11q12.3 615062 SCGB1D4, IIS Secretoglobin, family 1D, member 4 SCGB1D4 404552 ENSG00000197745
chr11 62419034 62423205 11q12.3-q13.1 11q12.3 192020 SCGB1A1, UGB, CC10, CCSP Secretoglobin, family 1A, member 1 (uteroglobin) SCGB1A1 7356 ENSG00000149021 Scgb1a1 (MGI:98919)
chr11 62433541 62546859 11q12-q13 11q12.3 103390 AHNAK AHNAK nucleoprotein (desmoyokin) AHNAK 79026 ENSG00000124942 Ahnak (MGI:1316648)
chr11 62559600 62573987 11q12.3 11q12.3 130593 EEF1G, EF1G Eukaryotic translation elongation factor 1, gamma EEF1G 1937 ENSG00000254772 Eef1g (MGI:1914410)
chr11 62593202 62601839 11q12-q13.1 11q12.3 603947 MTA2, MTA1L1 Metastasis-associated protein 2 MTA2 9219 ENSG00000149480 Mta2 (MGI:1346340)
chr11 62612740 62615119 11q13 11q12.3 180721 ROM1, ROSP1, RP7 Rod outer segment membrane protein-1 ROM1 6094 ENSG00000149489 digenic RP with RDS Retinitis pigmentosa 7, digenic, 608133 (3), Autosomal recessive, Autosomal dominant Rom1 (MGI:97998)
chr11 62615295 62622174 11q12-q13 11q12.3 606374 B3GAT3, GLCATI, JDSCD Beta-1,3-glucuronyltransferase 3 B3GAT3 26229 ENSG00000149541 pseudogene on chr.3 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3), Autosomal recessive B3gat3 (MGI:1919977)
chr11 62624825 62646725 11q13-qter 11q12.3 104160 GANAB, PKD3 Neutral alpha-glucosidase AB GANAB 23193 ENSG00000089597 Polycystic kidney disease 3, 600666 (3), Autosomal dominant Ganab (MGI:1097667)
chr11 62646847 62653301 11q12.3 11q12.3 611349 INTS5, INT5, KIAA1698 Integrator complex subunit 5 INTS5 80789 ENSG00000185085 Ints5 (MGI:1923578)
chr11 62665252 62667450 11q12.3 11q12.3 617897 CSKMT, METTL12 Citrate synthase lysine methyltransferase CSKMT 751071 ENSG00000214756
chr11 62671653 62673689 11q12.3 11q12.3 616097 UQCC3, C11orf83, MC3DN9 Ubiquinol-cytochrome C reductase complex assembly factor 3 UQCC3 790955 ENSG00000204922 mutation identified in 1 MC3DN9 patient ?Mitochondrial complex III deficiency, nuclear type 9, 616111 (3), Autosomal recessive Uqcc3 (MGI:2147553)
chr11 62676497 62679116 11q12.3 11q12.3 616378 UBXN1, SAKS1 UBX domain protein 1 UBXN1 51035 ENSG00000162191 Ubxn1 (MGI:1289301)
chr11 62690261 62709618 11q13 11q12.3 606158 BSCL2, SPG17, HMN5, PELD Seipin BSCL2 26580 ENSG00000168000 Encephalopathy, progressive, with or without lipodystrophy, 615924 (3), Autosomal recessive; Lipodystrophy, congenital generalized, type 2, 269700 (3), Autosomal recessive; Neuropathy, distal hereditary motor, type VA, 600794 (3), Autosomal dominant; Silver spastic paraplegia syndrome, 270685 (3), Autosomal dominant Bscl2 (MGI:1298392)
chr11 62761538 62766714 11q13.1 11q12.3 602013 POLR2G Polymerase (RNA) II (DNA directed) polypeptide G POLR2G 5436 ENSG00000168002 Polr2g (MGI:1914960)
chr11 62792124 62805491 11q12-q13 11q12.3 602647 NXF1, TAP, MEX67 Nuclear RNA export factor 1 NXF1 10482 ENSG00000162231 Nxf1 (MGI:1858330)
chr11 62806859 62832090 11q12.3 11q12.3 603189 STX5, STX5A Syntaxin 5 STX5 6811 ENSG00000162236 Stx5a (MGI:1928483)
chr11 62851977 62855884 11q13 11q12.3 603222 UHG, U22HG U22 host gene SNHG1 23642
chr11 62852909 62853034 11q13 11q12.3 603223 RNU22 RNA, U22 small nucleolar SNORD22 9304
chr11 62853325 62853392 11q13 11q12.3 603230 RNU31 RNA, U31 small nucleolar SNORD31 9298
chr11 62853662 62853731 11q13 11q12.3 603229 RNU30 RNA, U30 small nucleolar SNORD30 9299
chr11 62853903 62853967 11q13 11q12.3 603228 RNU29 RNA, U29 small nucleolar SNORD29 9297
chr11 62854620 62854694 11q13 11q12.3 603227 RNU28 RNA, U28 small nucleolar SNORD28 9300
chr11 62855011 62855082 11q13 11q12.3 603226 RNU27 RNA, U27 small nucleolar SNORD27 9301
chr11 62855291 62855365 11q13 11q12.3 603225 RNU26 RNA, U26 small nucleolar SNORD26 9302
chr11 62855564 62855630 11q13 11q12.3 603224 RNU25 RNA, U25 small nucleolar SNORD25 9303
chr11 62856011 62888882 11q13 11q12.3 158070 SLC3A2, MDU1, NACAE Solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 SLC3A2 6520 ENSG00000168003 prob. 11q13 Slc3a2 (MGI:96955)
chr11 62908674 62921860 11q13 11q12.3 118510 CHRM1 Cholinergic receptor, muscarinic, 1 CHRM1 1128 ENSG00000168539 Chrm1 (MGI:88396)
chr11 62976596 62985022 11q13.1-q13.2 11q12.3 607582 SLC22A6, OAT1, PAHT Solute carrier family 22 (organic anion transporter), member 6 SLC22A6 9356 ENSG00000197901 Slc22a6 (MGI:892001)
chr11 62992823 63015844 Chr.11 11q12.3 607581 SLC22A8, OAT3 Solute carrier family 22 (organic anion transporter), member 8 SLC22A8 9376 ENSG00000149452 Slc22a8 (MGI:1336187)
chr11 63079939 63144220 11q12.3 11q12.3 611698 SLC22A24 Solute carrier family 22, member 24 SLC22A24 283238 ENSG00000197658 Slc22a19 (MGI:2442751)
chr11 63162263 63243522 11q12.3 11q12.3 610792 UST6 Organic anion transporter UST6 SLC22A25 387601 ENSG00000196600 Slc22a29,Slc22a28,Slc22a27,Slc22a30 (MGI:2442750,MGI:3645714,MGI:3605624,MGI:3042283)
chr11 63268256 63311982 11q12.3 11q12.3 607580 SLC22A10, OAT5 Solute carrier family 22 (organic anion/cation transporter), member 10 SLC22A10 387775 ENSG00000184999
chr11 63368870 63410877 11q12.3 11q12.3 607579 SLC22A9, OAT4, UST3 Solute carrier family 22 (organic anion/cation transporter), member 9 SLC22A9 114571 ENSG00000149742
chr11 63506051 63516773 11q13 11q12.3 606096 LGALS12 Lectin, galactoside-binding, soluble, 12 LGALS12 85329 ENSG00000133317 Lgals12 (MGI:1929094)
chr11 63536800 63546457 11q23 11q12.3 605092 RARRES3, TIG3 Retinoic acid receptor responder 3 RARRES3 5920 ENSG00000133321
chr11 63552758 63565071 11q12.3 11q12.3 613866 HRASLS2 HRAS-like suppressor 2 HRASLS2 54979 ENSG00000133328
chr11 63574461 63616925 11q12.3-q13.1 11q12.3-q13.1 613867 PLA2G16, HRASLS3, HRSL3, HREV107 Phospholipase A2, group XVI PLA2G16 11145 ENSG00000176485 Pla2g16 (MGI:2179715)
chr11 63600000 77400000 11q13 617697 CUPID2 CCND1 upstream intergenic DNA repair 2, noncoding
chr11 63600000 110600000 11q13-q22 133220 ESA4 Esterase-A4 ESA4 2090
chr11 63600000 77400000 11q13 611958 HPC14 Prostate cancer, hereditary, 14 100188867 associated with rs7931342 {Prostate cancer, hereditary, 14}, 611958 (2)
chr11 63600000 77400000 11q13 600319 IDDM4 Insulin-dependent diabetes mellitus-4 IDDM4 3403 {Diabetes mellitus, insulin-dependent, 4}, 600319 (2)
chr11 63600000 77400000 11q13 166750 OTDD, DEL11q13, C11DELq13 Otodental dysplasia (chromosome 11q13 deletion syndrome) between rs9666584 and rs41408348 Otodental dysplasia chromosome deletion syndrome, 166750 (4), Autosomal dominant
chr11 63600000 77400000 11q13 169710 PGA3 Pepsinogen A3 PGA3 643834 ENSG00000229859
chr11 63600000 77400000 11q13 165110 SEA Oncogene SEA (S13 avian erythroblastosis) SEA 6395
chr11 63600000 77400000 11q13 607088 SMAR Spinal muscular atrophy, chronic distal, autosomal recessive 246751 no mutations found in IGHMBP2 Spinal muscular atrophy, chronic distal, autosomal recessive, 607088 (2), Autosomal recessive
chr11 63600000 77400000 11q13 191181 ST3 Suppression of tumorigenicity-3 (tumor-suppressor gene, HELA cell type) ST3 6762 Cervical carcinoma, 191181 (2)
chr11 63624081 63671973 11q13.1 11q13.1 609369 ATL3, HSN1F Atlastin 3 ATL3 25923 ENSG00000184743 Neuropathy, hereditary sensory, type IF, 615632 (3), Autosomal dominant Atl3 (MGI:1924270)
chr11 63681314 63759890 11q13 11q13.1 604249 RTN3, NSPL2 Reticulon 3 RTN3 10313 ENSG00000133318 pseudogene on chr.4 Rtn3 (MGI:1339970)
chr11 63759891 63768641 11q13 11q13.1 615699 C11orf95 Chromosome 11 open reading frame 95 C11orf95 65998 ENSG00000188070 2700081O15Rik (MGI:1919667)
chr11 63838927 63911019 11q12-q13 11q13.1 600526 MARK2, EMK1 MAP/microtubule affinity-regulating kinase 2 MARK2 2011 ENSG00000072518 Mark2 (MGI:99638)
chr11 63911220 63916843 11q13.1 11q13.1 616019 RCOR2 Rest corepressor 2 RCOR2 283248 ENSG00000167771 Rcor2 (MGI:1859854)
chr11 63974606 63976542 11q13 11q13.1 123870 COX8A Cytochrome c oxidase, subunit VIIIA COX8A 1351 ENSG00000176340 mutation identified in 1 COX4D patient ?Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial Cox8a (MGI:105959)
chr11 63985852 63998419 11q13.1 11q13.1 608337 OTUB1, OTU1, OTB1 OTU domain-containing ubiquitin aldehyde-binding protein 1 OTUB1 55611 ENSG00000167770
chr11 63998553 64166651 11q13.1 11q13.1 610400 MACROD1, LRP16 Macro domain-containing 1 MACROD1 28992 ENSG00000133315 Macrod1 (MGI:2147583)
chr11 64035969 64127288 11q12-q13 11q13.1 604806 FLRT1 Fibronectin-like domain-containing leucine-rich transmembrane protein-1 FLRT1 23769 ENSG00000126500 Flrt1 (MGI:3026647)
chr11 64185271 64204547 11q13 11q13.1 605063 STIP1, HOP Stress-induced phosphoprotein 1 STIP1 10963 ENSG00000168439 Stip1 (MGI:109130)
chr11 64206661 64223890 11q12 11q13.1 607901 KIND3, URP2, MIG2B, FERMT3 Kindlin 3 FERMT3 83706 ENSG00000149781 Leukocyte adhesion deficiency, type III, 612840 (3), Autosomal recessive Fermt3 (MGI:2147790)
chr11 64223798 64226253 11q13 11q13.1 610470 TRPT1 Transfer RNA phosphotransferase 1 TRPT1 83707 ENSG00000149743 Trpt1 (MGI:1333115)
chr11 64230280 64234280 11q13 11q13.1 604189 DANJC4, HSPF2 DnaJ, E. coli, homolog of, subfamily C, member 4 (heat-shock 40kD protein 2) DNAJC4 3338 ENSG00000110011 Dnajc4 (MGI:1927346)
chr11 64234583 64239263 11q13 11q13.1 601398 VEGFB, VRF Vascular endothelial growth factor B VEGFB 7423 ENSG00000173511 Vegfb (MGI:106199)
chr11 64240940 64244134 11q13.1-q13.3 11q13.1 186946 FKBP2 FK506-binding protein-2, 13kD FKBP2 2286 ENSG00000173486 Fkbp2 (MGI:95542)
chr11 64244478 64246940 11q13 11q13.1 601140 PPP1R14B, PLCB3N, PNG Protein phosphatase 1, regulatory subunit 14B PPP1R14B 26472 ENSG00000173457 Ppp1r14b (MGI:107682)
chr11 64251522 64269451 11q13 11q13.1 600230 PLCB3 Phospholipase C, beta 3 (phosphatidylinositol-specific) PLCB3 5331 ENSG00000149782 within 900kb of MEN1 Plcb3 (MGI:104778)
chr11 64269827 64284703 11q13.1 11q13.1 603167 BAD, BCL2L8 BCL1 antagonist of cell death BAD 572 ENSG00000002330 Bad (MGI:1096330)
chr11 64291301 64300030 11q13 11q13.1 605720 KCNK4, TRAAK Potassium channel, subfamily K, member 4 KCNK4 50801 ENSG00000182450 Kcnk4 (MGI:1298234)
chr11 64300390 64304766 11q13.1 11q13.1 617511 CATSPERZ, TEX40 Cation channel, sperm-associated, auxiliary subunit zeta CATSPERZ 25858 ENSG00000219435 Catsperz (MGI:1914327)
chr11 64305527 64316742 11q12 11q13.1 601998 ESRRA, ESRL1 Estrogen-related receptor, alpha ESRRA 2101 ENSG00000173153
chr11 64318087 64321822 11q13 11q13.1 606583 PRDX5, AOEB166 Peroxiredoxin 5 PRDX5 25824 ENSG00000126432 Prdx5 (MGI:1859821)
chr11 64340202 64357533 11q13.1 11q13.1 611205 CCDC88B, GIPIE Coiled-coil domain-containing protein 88B CCDC88B 283234 ENSG00000168071 Ccdc88b (MGI:1925567)
chr11 64359152 64372214 11q13.1 11q13.1 603606 RPS6KA4, RSKB, MSK2 Ribosomal protein S6 kinase, 90kD, 4 RPS6KA4 8986 ENSG00000162302 Rps6ka4 (MGI:1930076)
chr11 64555600 64572874 11q13 11q13.1 607097 SLC22A11, OAT4 Solute carrier family 22 (organic anion/cation transporter), member 11 SLC22A11 55867 ENSG00000168065
chr11 64590809 64603249 11q13 11q13.1 607096 SLC22A12, OAT4L, URAT1 Solute carrier family 22 (urate transporter), member 12 SLC22A12 116085 ENSG00000197891 Hypouricemia, renal, 220150 (3), Autosomal recessive Slc22a12 (MGI:1195269)
chr11 64606173 64723187 11q13 11q13.1 600566 NRXN2 Neurexin 2 NRXN2 9379 ENSG00000110076 Nrxn2 (MGI:1096362)
chr11 64726910 64745480 11q13 11q13.1 605577 RASGRP2, CDC25L Ras guanyl nucleotide-releasing protein 2 RASGRP2 10235 ENSG00000068831 mutation identified in 1 BDPLT18 family ?Bleeding disorder, platelet-type, 18, 615888 (3), Autosomal recessive Rasgrp2 (MGI:1333849)
chr11 64746388 64760714 11q13 11q13.1 608455 PYGM Phosphorylase, glycogen, muscle PYGM 5837 ENSG00000068976 McArdle disease, 232600 (3), Autosomal recessive Pygm (MGI:97830)
chr11 64764603 64778843 11q13 11q13.1 601516 SF1, ZNF162, D11S636, ZFM1 Splicing factor 1 (zinc finger protein-162) SF1 7536 ENSG00000168066
chr11 64786913 64803253 11q13 11q13.1 603166 MAP4K2, RAB8IP, GCK Mitogen-activating protein kinase kinase kinase kinase 2 (RAB8-interacting protein; germinal center kinase) MAP4K2 5871 ENSG00000168067 Map4k2 (MGI:1346883)
chr11 64803513 64811293 11q13 11q13.1 613733 MEN1 Menin MEN1 4221 ENSG00000133895 linked distal to PYGM Adrenal adenoma, somatic (3); Angiofibroma, somatic (3); Carcinoid tumor of lung (3); Lipoma, somatic (3); Multiple endocrine neoplasia 1, 131100 (3), Autosomal dominant; Parathyroid adenoma, somatic (3) Men1 (MGI:1316736)
chr11 64823808 64844685 11q13 11q13.1 613991 CDC42BPG, MRCKG CDC42-binding protein kinase, gamma CDC42BPG 55561 ENSG00000171219 Cdc42bpg (MGI:2652845)
chr11 64852726 64879712 11q13 11q13.1 605888 EHD1 EH domain-containing 1 protein EHD1 10938 ENSG00000110047 Ehd1 (MGI:1341878)
chr11 64891136 64891245 11q13.1 11q13.1 610939 MIR192, MIRN192 Micro RNA 192 MIR192 406967
chr11 64891354 64891438 11q13.1 11q13.1 610941 MIR194-2, MIRN194-2 Micro RNA 194-2 MIR194-2 406970
chr11 64894531 64917249 11q13.1 11q13.1 616225 ATG2A, KIAA0404 Autophagy 2, S. cerevisiae, homolog of, A ATG2A 23130 ENSG00000110046 Atg2a (MGI:1916291)
chr11 64917552 64934477 11q13 11q13.1 601644 PPP2R5B Protein phosphatase-2, regulatory subunit B (B56), beta isoform PPP2R5B 5526 ENSG00000068971 Ppp2r5b (MGI:2388480)
chr11 64934470 64938130 11q13.1 11q13.1 609651 GPHA2, GPA2 Glycoprotein hormone, alpha-2 GPHA2 170589 ENSG00000149735 Gpha2 (MGI:2156541)
chr11 64938229 64972097 11q13.1 11q13.1 617130 MAJIN, C11orf85 Membrane-anchored junction protein MAJIN 283129 ENSG00000168070 Majin (MGI:1923913)
chr11 64987944 64997044 11q13.1 11q13.1 614983 BATF2, SARI Basic leucine zipper transcription factor, ATF-like 2 BATF2 116071 ENSG00000168062 Batf2 (MGI:1921731)
chr11 65014112 65022184 11q13 11q13.1 601175 ARL2 ADP=ribosylation factor-like 2 ARL2 402 ENSG00000213465 Arl2 (MGI:1928393)
chr11 65027407 65040571 11q13 11q13.1 605964 SNX15 Sorting nexin 15 SNX15 29907 ENSG00000110025 Snx15 (MGI:1916274)
chr11 65044817 65059019 11q12 11q13.1 602640 NAALADL1, I100 N-acetylated alpha-linked acidic dipeptidase-like 1 NAALADL1 10004 ENSG00000168060 Naaladl1 (MGI:2685810)
chr11 65061008 65084142 11q13.1 11q13.1 609374 CDCA5, SORORIN Cell division cycle-associated protein 5 (sororin) CDCA5 113130 ENSG00000146670 Cdca5 (MGI:1915099)
chr11 65096114 65111859 11q13.1 11q13.1 615738 VPS51, ANG2 Vacuolar protein sorting 51, S. cerevisiae, homolog of VPS51 738 ENSG00000149823 Vps51 (MGI:1915755)
chr11 65111853 65116234 11q13 11q13.1 603414 TM7SF2, ANG1 Transmembrane 7 superfamily, member 2 TM7SF2 7108 ENSG00000149809 Tm7sf2 (MGI:1920416)
chr11 65116402 65117737 11q13 11q13.1 604575 ZNHIT2, C11orf5, FON Zinc finger HIT domain containing protein 2 ZNHIT2 741 ENSG00000174276 Znhit2 (MGI:1352481)
chr11 65120626 65122199 11q13 11q13.1 134690 FAU Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived) FAU 2197 ENSG00000149806 Fau (MGI:102547)
chr11 65122182 65127368 11q13 11q13.1 606866 MRPL49, NOF1 Mitochondrial ribosomal protein L49 MRPL49 740 ENSG00000149792 Mrpl49 (MGI:108180)
chr11 65127278 65135177 11q13 11q13.1 608046 SYVN1, HRD1, KIAA1810 Synovial apoptosis inhibitor 1 SYVN1 84447 ENSG00000162298 Syvn1 (MGI:1921376)
chr11 65170153 65173665 11q13.1 11q13.1 614030 SPDYC, RINGOC Speedy, xenopus, homolog of, C SPDYC 387778 ENSG00000204710
chr11 65181214 65212005 11q13 11q13.1 114220 CAPN1, SPG76 Calpain, large polypeptide L1 CAPN1 823 ENSG00000014216 Spastic paraplegia 76, autosomal recessive, 616907 (3), Autosomal recessive Capn1 (MGI:88263)
chr11 65213839 65242756 11q13.1 11q13.1 611696 SLC22A20, OAT6 Solute carrier family 22, member 20 SLC22A20P 440044
chr11 65314817 65322428 11q12-q13 11q13.1 606132 CDC42EP2, CEP2, BORG1 CDC42 effector protein 2 CDC42EP2 10435 ENSG00000149798 Cdc42ep2 (MGI:1929744)
chr11 65333753 65354259 11q13 11q13.1 601671 DPF2, REQ, UBID4 D4, zinc, and double PHD fingers family, member 2 DPF2 5977 ENSG00000133884 Dpf2 (MGI:109529)
chr11 65375191 65383700 11q13.1 11q13.1 610825 SLC25A45 Solute carrier family 25, member 45 SLC25A45 283130 ENSG00000162241 Slc25a45 (MGI:2147731)
chr11 65422797 65445539 11q13.1 11q13.1 612769 NEAT1, TNCRNA Noncoding nuclear-enriched abundant transcript 1 NEAT1 283131
chr11 65497737 65506515 11q13.1 11q13.1 607924 MALAT1, PRO1073 Metastasis-associated lung adenocarcinoma transcript 1 MALAT1 378938 fused with TFEB in renal tumors
chr11 65525076 65538710 11q13 11q13.1 607982 SCYL1, NTKL, SCAR21 SCY1-like 1 SCYL1 57410 ENSG00000142186 Spinocerebellar ataxia, autosomal recessive 21, 616719 (3), Autosomal recessive Scyl1 (MGI:1931787)
chr11 65538558 65558388 11q12 11q13.1 602090 LTBP3, LTBP2, DASS, GPHYSD3 Latent transforming growth factor beta binding protein-3 LTBP3 4054 ENSG00000168056 Dental anomalies and short stature, 601216 (3), Autosomal recessive; Geleophysic dysplasia 3, 617809 (3), Autosomal dominant Ltbp3 (MGI:1101355)
chr11 65572348 65574197 11q13.1 11q13.1 616128 FAM89B, MTVR, LRAP25 Family with sequence similarity 89, member B FAM89B 23625 ENSG00000176973 Fam89b (MGI:106595)
chr11 65592854 65595995 11q13 11q13.1 603940 KCNK7 Potassium channel, subfamily K, member 7 KCNK7 10089 ENSG00000173338 Kcnk7 (MGI:1341841)
chr11 65597754 65614248 11q13.1-q13.3 11q13.1 600050 MAP3K11, MLK3, PTK1, SPRK Mitogen-activated protein kinase kinase kinase 11 MAP3K11 4296 ENSG00000173327 Map3k11 (MGI:1346880)
chr11 65614310 65637438 11q13.1 11q13.1 617657 PCNX3 Pecanex, Drosophila, homolog of, 3 PCNX3 399909 ENSG00000197136 Pcnx3 (MGI:1861733)
chr11 65638106 65650929 11q13.3 11q13.1 602180 SIPA1, SPA1 Signal-induced proliferation-associated gene-1 SIPA1 6494 ENSG00000213445 Sipa1 (MGI:107576)
chr11 65653595 65662971 11q12-q13 11q13.1 164014 RELA, NFKB3 v-rel avian reticuloendotheliosis viral oncogene homolog A (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (p65)) RELA 5970 ENSG00000173039 Rela (MGI:103290)
chr11 65712001 65719605 11q13 11q13.1 601409 KAT5, HTATIP, TIP60, ESA1, PLIP K(lysine) acetyltransferase 5 KAT5 10524 ENSG00000172977 Kat5 (MGI:1932051)
chr11 65717672 65720937 11q13.2 11q13.1 610330 RNASEH2C, AYP1, FLJ20974, AGS3 Ribonuclease H2, subunit C RNASEH2C 84153 ENSG00000172922 Aicardi-Goutieres syndrome 3, 610329 (3), Autosomal recessive Rnaseh2c (MGI:1915459)
chr11 65773897 65780590 11q13.1 11q13.1 614367 AP5B1, DKFZp761E198 Adaptor-related protein complex 5, beta-1 subunit AP5B1 91056 ENSG00000254470 Ap5b1 (MGI:2685808)
chr11 65787033 65797218 11q13 11q13.1 602313 OVOL1 Ovo, Drosophila, homolog-like, 1 OVOL1 5017 ENSG00000172818 Ovol1 (MGI:1330290)
chr11 65854810 65858332 11q13 11q13.1 601442 CFL1 Cofilin 1 (non-muscle) CFL1 1072 ENSG00000172757 Cfl1 (MGI:101757)
chr11 65860243 65867652 11q13 11q13.1 606591 MUS81 Mus81, S. cerevisiae, homolog of MUS81 80198 ENSG00000172732 Mus81 (MGI:1918961)
chr11 65866440 65872933 11q13 11q13.1 604633 EFEMP2, FBLN4, UPH1, ARCL1B EGF-containing fibulin-like extracellular matrix protein 2 (fibulin 4) EFEMP2 30008 ENSG00000172638 Cutis laxa, autosomal recessive, type IB, 614437 (3), Autosomal recessive Efemp2 (MGI:1891209)
chr11 65879812 65883740 11q13.1 11q13.1 602364 CTSW Cathepsin W CTSW 1521 ENSG00000172543 Ctsw (MGI:1338045)
chr11 65883739 65888538 11q13.1 11q13.1 608296 FIBP, TROFAS Fibroblast growth factor, acidic, intracellular binding protein FIBP 9158 ENSG00000172500 Thauvin-Robinet-Faivre syndrome, 617107 (3), Autosomal recessive Fibp (MGI:1926233)
chr11 65890403 65891634 11q13.1 11q13.1 605360 DIPA Delta antigen-interacting protein A CCDC85B 11007 ENSG00000175602 Ccdc85b (MGI:2147607)
chr11 65892135 65900525 11q13 11q13.1 136515 FOSL1 FOS-like antigen-1 FOSL1 8061 ENSG00000175592 Fosl1 (MGI:107179)
chr11 65919256 65921576 11q13.1 11q13.1 602289 DRAP1 DR1-associated protein 1 DRAP1 10589 ENSG00000175550 Drap1 (MGI:1913806)
chr11 65961688 65980135 Chr.11 11q13.1 605941 SART1, HOMS1 Squamous cell carcinoma antigen recognized by T cells 1 SART1 9092 ENSG00000175467 Sart1 (MGI:1309453)
chr11 66002078 66004148 11q13.1 11q13.1 603811 BANF1, BAF, NGPS Barrier to autointegration factor 1 BANF1 8815 ENSG00000175334 Nestor-Guillermo progeria syndrome, 614008 (3), Autosomal recessive Banf1 (MGI:1346330)
chr11 66011990 66013504 11q13 11q13.1 601891 CST6 Cystatin-M CST6 1474 ENSG00000175315 Cst6 (MGI:1920970)
chr11 66016751 66026517 11q13.1 11q13.1 606389 CATSPER1, CATSPER, SPGF7 Cation channel, sperm-associated, 1 CATSPER1 117144 ENSG00000175294 Spermatogenic failure 7, 612997 (3), Autosomal recessive Catsper1 (MGI:2179947)
chr11 66040764 66049179 11q13 11q13.1 608234 GAL3ST3, GAL3ST2 Galactose-3-O-sulfotransferase 3 GAL3ST3 89792 ENSG00000175229 Gal3st3 (MGI:3617843)
chr11 66052344 66068910 Chr.11 11q13.1 605591 SF3B2, SF3B145, SAP145 Splicing factor 3B, subunit 2 SF3B2 10992 ENSG00000087365 Sf3b2 (MGI:2441856)
chr11 66070275 66244746 11q13.1 11q13.1-q13.2 607492 PACS1, SHMS, MRD17 Phosphofurin acidic cluster sorting protein 1 PACS1 55690 ENSG00000175115 Schuurs-Hoeijmakers syndrome, 615009 (3), Autosomal dominant Pacs1 (MGI:1277113)
chr11 66257293 66267860 11q12-q13 11q13.2 611729 KLC2, SPOAN Kinesin, light chain 2 KLC2 64837 ENSG00000174996 Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3), Autosomal recessive Klc2 (MGI:107953)
chr11 66268525 66277491 11q13.1 11q13.2 612565 RAB1B Ras-associated protein RAB1B RAB1B 81876 ENSG00000174903 Rab1b (MGI:1923558)
chr11 66278200 66284213 11q13.2 11q13.2 611288 CNIH2, CNIL Cornichon, Drosophila, homolog of, 2 CNIH2 254263 ENSG00000174871 Cnih2 (MGI:1277225)
chr11 66284579 66289166 11q13 11q13.2 611484 YIF1A, YIF1 Yip1-interacting factor, S. cerevisiae, homolog of, A YIF1A 10897 ENSG00000174851 Yif1a (MGI:1915340)
chr11 66314486 66317043 11q13 11q13.2 606064 CD248, TEM1 CD248 antigen CD248 57124 ENSG00000174807 Cd248 (MGI:1917695)
chr11 66337332 66345124 11q13.1-q13.2 11q13.2 606259 BRMS1 Breast cancer metastasis suppressor 1 BRMS1 25855 ENSG00000174744 Brms1 (MGI:2388804)
chr11 66345371 66347689 11q13.2 11q13.2 605517 B4GAT1, B3GNT1, IGNT, IGAT, MDDGA13 Beta-1,4glucuronyltransferase 1 B4GAT1 11041 ENSG00000174684 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3), Autosomal recessive B4gat1 (MGI:1919680)
chr11 66362520 66372475 11q13 11q13.2 602110 SLC29A2, HNP36, DER12 Solute carrier family 29 (nucleoside transporters), member 2 (hydrophobic nucleolar protein, 36kD) SLC29A2 3177 ENSG00000174669 Slc29a2 (MGI:1345278)
chr11 66408921 66426706 11q13 11q13.2 608554 NPAS4, NXF Neuronal PAS domain protein 4 NPAS4 266743 ENSG00000174576 Npas4 (MGI:2664186)
chr11 66435074 66438859 11q13.3 11q13.2 611826 MRPL11 Mitochondrial ribosomal protein L11 MRPL11 65003 ENSG00000174547 Mrpl11 (MGI:2137215)
chr11 66466326 66477336 11q13.2 11q13.2 609827 PELI3 Pellino, Drosophila, homolog of, 3 PELI3 246330 ENSG00000174516 Peli3 (MGI:1924963)
chr11 66480012 66509658 11q12-q13.1 11q13.2 606818 DPP3 Dipeptidyl peptidase III DPP3 10072 ENSG00000254986 Dpp3 (MGI:1922471)
chr11 66510647 66533612 11q13 11q13.2 209901 BBS1 BBS1 gene BBS1 582 ENSG00000174483 Bardet-Biedl syndrome 1, 209900 (3), Autosomal recessive, Digenic recessive Bbs1 (MGI:1277215)
chr11 66546394 66563328 11q13-q14 11q13.2 102574 ACTN3, ACTN3D Actinin, alpha-3 ACTN3 89 ENSG00000248746 [Alpha-actinin-3 deficiency], 617749 (3); [Sprinting performance], 617749 (3)
chr11 66563462 66568575 11q13.1 11q13.2 603539 CTSF, CLN13 Cathepsin F CTSF 8722 ENSG00000174080 Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3), Autosomal recessive Ctsf (MGI:1861434)
chr11 66593161 66606018 11q13 11q13.2 603864 CCS Copper chaperone for superoxide dismutase CCS 9973 ENSG00000173992 Ccs (MGI:1333783)
chr11 66616581 66629933 11q13 11q13.2 612409 RBM14, PSP2, COAA, SIP RNA-binding motif protein 14 RBM14 10432 ENSG00000239306 Rbm14 (MGI:1929092)
chr11 66638616 66668384 11q13 11q13.2 602571 RBM4. LARK RNA-binding motif protein-4 (lark, Drosophila, homolog of) RBM4 5936 ENSG00000173933 Rbm4 (MGI:1100865)
chr11 66682495 66729360 11q13 11q13.2 604985 SPTBN2, SCA5, SCAR14 Spectrin, beta, nonerythrocytic, 2 SPTBN2 6712 ENSG00000173898 Spinocerebellar ataxia 5, 600224 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 14, 615386 (3), Autosomal recessive Sptbn2 (MGI:1313261)
chr11 66744735 66843515 11q13.2 11q13.2 616109 C11orf80 Chromosome 11 open reading frame 80 C11orf80 79703 ENSG00000173715 Gm960 (MGI:2685806)
chr11 66843411 66846531 11q13 11q13.2 605385 RCE1 Ras converting CAAX endopeptidase 1 RCE1 9986 ENSG00000173653 Rce1 (MGI:1336895)
chr11 66848521 66958417 11q13.4-q13.5 11q13.2 608786 PC Pyruvate carboxylase PC 5091 ENSG00000173599 Pyruvate carboxylase deficiency, 266150 (3), Autosomal recessive Pcx (MGI:97520)
chr11 66857086 66860474 11q13.1 11q13.2 612810 LRFN4, SALM3 Leucine-rich repeat and fibronectin type III domain-containing protein 4 LRFN4 78999 ENSG00000173621 Lrfn4 (MGI:2385612)
chr11 67006772 67050862 11q13.2 11q13.2 606436 SYT12, SRG1 Synaptotagmin 12 SYT12 91683 ENSG00000173227 Syt12 (MGI:2159601)
chr11 67056817 67072016 11q14.3 11q13.2 605781 RHOD, ARHD, RHOHP1 Ras homolog gene family, member D RHOD 29984 ENSG00000173156 Rhod (MGI:108446)
chr11 67119268 67258081 Chr.11 11q13.2 605657 FBXL11, FBL11 F-box and leucine-rich repeat protein-11 KDM2A 22992 ENSG00000173120 Kdm2a (MGI:1354736)
chr11 67266399 67286557 11cen-q13 11q13.2 109635 ADRBK1 Adrenergic, beta, receptor kinase-1 GRK2 156 ENSG00000173020 Grk2 (MGI:87940)
chr11 67289290 67302483 11q13.2 11q13.2 615126 ANKRD13D Ankyrin repeat domain-containing protein 13D ANKRD13D 338692 ENSG00000172932 Ankrd13d (MGI:1915673)
chr11 67303447 67312606 11q13.2 11q13.2 606780 SSH3 Slingshot, Drosophila, homolog of, 3 SSH3 54961 ENSG00000172830 Ssh3 (MGI:2683546)
chr11 67350764 67353595 11q13 11q13.2 611525 POLD4, POLDS, P12 Polymerase, DNA-directed, delta 4 POLD4 57804 ENSG00000175482 Pold4 (MGI:1916995)
chr11 67364167 67374176 11q13.3 11q13.2 607672 CLCF1, BSF3, CLC, CISS2 Cardiotrophin-like cytokine CLCF1 23529 ENSG00000175505 Cold-induced sweating syndrome 2, 610313 (3), Autosomal recessive Clcf1 (MGI:1930088)
chr11 67391951 67398411 11q13.1-q13.2 11q13.2 603761 RAD9A, RAD9 RAD9, S. pombe, homolog of RAD9A 5883 ENSG00000172613 Rad9a (MGI:1328356)
chr11 67398180 67401904 11q13 11q13.2 176875 PPP1CA, PPP1A Protein phosphatase-1, catalytic subunit, alpha isoform PPP1CA 5499 ENSG00000172531 Ppp1ca (MGI:103016)
chr11 67403717 67410089 11q13.1 11q13.2 610831 TBC1D10C, CARABIN TBC1 domain family, member 10C TBC1D10C 374403 ENSG00000175463 Tbc1d10c (MGI:1922072)
chr11 67415677 67425606 11q13 11q13.2 613368 CARNS1, ATPGD1, KIAA1394 Carnosine synthase 1 CARNS1 57571 ENSG00000172508 Carns1 (MGI:2147595)
chr11 67435509 67437681 11q13.3 11q13.2 601577 PTPRCAP, LPAP Protein tyrosine phosphatase, receptor type, c polypeptide-associated protein PTPRCAP 5790 ENSG00000213402 Ptprcap (MGI:97811)
chr11 67438046 67443820 11q13.2 11q13.2 609849 CORO1B Coronin 1B CORO1B 57175 ENSG00000172725 Coro1b (MGI:1345963)
chr11 67452405 67461773 11q13.1 11q13.2 608965 CABP4, CRSD, CSNB2B Calcium-binding protein 4 CABP4 57010 ENSG00000175544 Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3), Autosomal recessive Cabp4 (MGI:1920910)
chr11 67468178 67491107 11q13.3 11q13.2 605555 AIP, XAP2, ARA9, PITA1 Aryl hydrocarbon receptor-interacting protein AIP 9049 ENSG00000110711 Pituitary adenoma 1, multiple types, 102200 (3), Autosomal dominant, Somatic mutation; Pituitary adenoma predisposition, 102000 (3), Autosomal dominant Aip (MGI:109622)
chr11 67518946 67523427 11q13.1 11q13.2 607314 CABP2, DFNB93 Calcium-binding protein 2 CABP2 51475 ENSG00000167791 Deafness, autosomal recessive 93, 614899 (3), Autosomal recessive Cabp2 (MGI:1352749)
chr11 67583594 67586652 11q13 11q13.2 134660 GSTP1, GST3 Glutathione S-transferase pi GSTP1 2950 ENSG00000084207 formerly called GST1 Gstp2,Gstp-ps,Gstp1 (MGI:95865,MGI:3782108,MGI:95864)
chr11 67606851 67612540 11q13 11q13.2 161015 NDUFV1, UQOR1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kD NDUFV1 4723 ENSG00000167792 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufv1 (MGI:107851)
chr11 67631302 67639559 11q13.1-q13.2 11q13.2 604648 TBX10 T-box 10 TBX10 347853 ENSG00000167800 Tbx10 (MGI:1261436)
chr11 67642550 67650828 11q13.2 11q13.2 614413 ACY3, HCBP1 Aminoacylase 3 ACY3 91703 ENSG00000132744 Acy3 (MGI:1918920)
chr11 67662161 67681223 Chr.11 11q13.2 601917 ALDH3B2, ALDH8 Aldehyde dehydrogenase 3 family, member B2 ALDH3B2 222 ENSG00000132746
chr11 67991099 68004124 11q13 11q13.2 608204 UNC93B1, IIAE1 UNC93, C. elegans, homolog of, B1 UNC93B1 81622 ENSG00000110057 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3) Unc93b1 (MGI:1859307)
chr11 68008546 68029281 Chr.11 11q13.2 600466 ALDH3B1, ALDH7 Aldehyde dehydrogenase 3 family, member B1 ALDH3B1 221 ENSG00000006534 Aldh3b1 (MGI:1914939)
chr11 68030616 68036646 11q13 11q13.2 602141 NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kD (NADH-coenzyme Q reductase) NDUFS8 4728 ENSG00000110717 previously assigned to 3q28 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial Ndufs8 (MGI:2385079)
chr11 68038994 68053845 11q13.4-q13.5 11q13.2 604592 TCIRG1, TIRC7, OC116, OPTB1 T-cell immune regulator 1 TCIRG1 10312 ENSG00000110719 Osteopetrosis, autosomal recessive 1, 259700 (3), Autosomal recessive Tcirg1 (MGI:1350931)
chr11 68052858 68121390 11q13.2 11q13.2 118491 CHKA, CHK Choline kinase, alpha CHKA 1119 ENSG00000110721 Chka (MGI:107760)
chr11 68154862 68213898 11q13 11q13.2 610881 KMT5B, SUV420H1, CGI85, MRD51 Lysine methyltransferase 5B KMT5B 51111 ENSG00000110066 Mental retardation, autosomal dominant 51, 617788 (3), Autosomal dominant Kmt5b (MGI:2444557)
chr11 68261334 68272000 11q13 11q13.2 610880 C11orf24 Chromosome 11 open reading frame 24 C11orf24 53838 ENSG00000171067 1810055G02Rik (MGI:1919306)
chr11 68298865 68449274 11q13.4 11q13.2 603506 LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4, PCLD4 Low density lipoprotein receptor-related protein-5 LRP5 4041 ENSG00000162337 [Bone mineral density variability 1], 601884 (3), Autosomal dominant; Exudative vitreoretinopathy 4, 601813 (3), Autosomal recessive, Autosomal dominant; Hyperostosis, endosteal, 144750 (3), Autosomal dominant; Osteopetrosis, autosomal dominant 1, 607634 (3), Autosomal dominant; Osteoporosis-pseudoglioma syndrome, 259770 (3), Autosomal recessive; {Osteoporosis}, 166710 (3), Autosomal dominant; Osteosclerosis, 144750 (3), Autosomal dominant; Polycystic liver disease 4 with or without kidney cysts, 617875 (3), Autosomal dominant; van Buchem disease, type 2, 607636 (3), Autosomal dominant Lrp5 (MGI:1278315)
chr11 68460717 68615333 11q13 11q13.2 610879 SAPS3, PP6R3, C11orf23, KIAA1558 SAPS domain family, member 3 PPP6R3 55291 ENSG00000110075 Ppp6r3 (MGI:1921807)
chr11 68684474 68691174 11q13.3-q13.5 11q13.2 137035 GAL, GALN, GLNN, ETL8 Galanin GAL 51083 ENSG00000069482 mutation identified in 1 ETL8 family ?Epilepsy, familial temporal lobe, 8, 616461 (3), Autosomal dominant Gal (MGI:95637)
chr11 68700000 75500000 11q13.3-q13.4 194633 ZNF126 Zinc finger protein-126 (HZF-2)
chr11 68706673 68751563 11q13.2-q13.3 11q13.3 604374 MTL5, TESMIN Metallothionein-like 5, testis-specific TESMIN 9633 ENSG00000132749 Tesmin (MGI:1340029)
chr11 68754619 68844409 11q13 11q13.3 600528 CPT1A Carnitine palmitoyltransferase I, liver CPT1A 1374 ENSG00000110090 CPT deficiency, hepatic, type IA, 255120 (3), Autosomal recessive Cpt1a (MGI:1098296)
chr11 68891275 68903834 11q13.2 11q13.3 611834 MRPL21 Mitochondrial ribosomal protein L21 MRPL21 219927 ENSG00000197345 Mrpl21 (MGI:2660674)
chr11 68903850 68940600 11q13.2-q13.4 11q13.3 600502 IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6, CMT2S Immunoglobulin mu binding protein 2 IGHMBP2 3508 ENSG00000132740 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3), Autosomal recessive; Neuronopathy, distal hereditary motor, type VI, 604320 (3), Autosomal recessive Ighmbp2 (MGI:99954)
chr11 68980020 68980985 11q13.2 11q13.3 607231 MRGPRD, MRGD Mas-related G protein-coupled receptor family, member D MRGPRD 116512 ENSG00000172938 Mrgprd (MGI:3033142)
chr11 69004374 69013670 11q13.2 11q13.3 607233 MRGPRF, MRGF, RTA Mas-related G protein-coupled receptor family, member F MRGPRF 116535 ENSG00000172935 Mrgprf (MGI:2384823)
chr11 69048875 69090603 11q13.2 11q13.3 612163 TPCN2, TPC2, SHEP10 Two-pore segment channel 2 TPCN2 219931 ENSG00000162341 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3) Tpcn2 (MGI:2385297)
chr11 69294137 69297286 11q13.1 11q13.3 605625 MYEOV Myeloma overexpressed gene MYEOV 26579 ENSG00000172927
chr11 69485560 69493542 11q13 11q13.3 617696 CUPID1, LINC01488, BRCAT8 CCND1 upstream intergenic DNA repair 1, noncoding LINC01488 101928292
chr11 69641104 69654473 11q13 11q13.3 168461 CCND1, PRAD1, BCL1 Cyclin D1 CCND1 595 ENSG00000110092 pseudogene on 11q13 {Colorectal cancer, susceptibility to}, 114500 (3), Autosomal dominant; {Multiple myeloma, susceptibility to}, 254500 (3), Somatic mutation; {von Hippel-Lindau syndrome, modifier of}, 193300 (3), Autosomal dominant Ccnd1 (MGI:88313)
chr11 69665562 69675396 11q13 11q13.3 607224 ORAOV1, TAOS1 Oral cancer overexpressed gene 1 ORAOV1 220064 ENSG00000149716 Oraov1 (MGI:1919534)
chr11 69698237 69704337 11q13.1 11q13.3 603891 FGF19 Fibroblast growth factor 19 FGF19 9965 ENSG00000162344 Fgf15 (MGI:1096383)
chr11 69771015 69775402 11q13 11q13.3 164980 FGF4, HSTF1 Fibroblast growth factor-4 (heparin secretory transforming protein-1; Kaposi sarcoma oncogene) FGF4 2249 ENSG00000075388 coamplified with FGF3 in melanoma Fgf4 (MGI:95518)
chr11 69809967 69819423 11q13 11q13.3 164950 FGF3, INT2 Fibroblast growth factor-3 (oncogene INT2) FGF3 2248 ENSG00000186895 35kb 5' to HST1 Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3), Autosomal recessive Fgf3 (MGI:95517)
chr11 70078301 70189544 11q13 11q13.3 610108 ANO1, TMEM16A, FLJ10261 Anoctamin 1, calcium activated chloride channel ANO1 55107 ENSG00000131620 Ano1 (MGI:2142149)
chr11 70203162 70207401 11q13.3 11q13.3 602457 FADD FAS-associating protein with death domain FADD 8772 ENSG00000168040 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 (3), Autosomal recessive Fadd (MGI:109324)
chr11 70270686 70384500 11q13.3 11q13.3 611054 PPFIA1, LIP1 Protein-tyrosine phosphatase, receptor-type, F polypeptide-interacting protein alpha-1 PPFIA1 8500 ENSG00000131626 Ppfia1 (MGI:1924750)
chr11 70398505 70436583 11q13 11q13.3 164765 CTTN, EMS1 Cortactin CTTN 2017 ENSG00000085733 amplified in breast cancer and squamous cell cancer Cttn (MGI:99695)
chr11 70467855 71252723 11q13.3-q13.4 11q13.3-q13.4 603290 SHANK2, CORTBP1, AUTS17 SH3 and multiple ankyrin repeat domains 2 SHANK2 22941 ENSG00000162105 {Autism susceptibility 17}, 613436 (3) Shank2 (MGI:2671987)
chr11 71434410 71448430 11q12-q13 11q13.4 602858 DHCR7, SLOS Delta-7-dehydrocholesterol reductase DHCR7 1717 ENSG00000172893 Smith-Lemli-Opitz syndrome, 270400 (3), Autosomal recessive Dhcr7 (MGI:1298378)
chr11 71453170 71501537 11q13.2 11q13.4 608285 NADSYN1 NAD synthetase 1 NADSYN1 55191 ENSG00000172890 Nadsyn1 (MGI:1926164)
chr11 71548419 71549606 11q13.5 11q13.4 148021 KRTAP5-9, KRN1 Keratin associated protein 5-9 KRTAP5-9 3846 ENSG00000254997
chr11 71787510 71801233 11q13.4 11q13.4 616124 FAM86C1 Family with sequence similarity 86, member C1 FAM86C1 55199 ENSG00000158483
chr11 71997943 72002918 11q13.4 11q13.4 604113 IL18BP Interleukin 18-binding protein IL18BP 10068 ENSG00000137496 Il18bp (MGI:1333800)
chr11 72002863 72080692 11q13 11q13.4 164009 NUMA1 Nuclear mitotic apparatus protein-1 NUMA1 4926 ENSG00000137497 fused with RARA in APL Leukemia, acute promyelocytic, somatic, 612376 (3) Numa1 (MGI:2443665)
chr11 72080330 72110781 11q13.3-q13.4 11q13.4 612414 LRTOMT, LRTOMT1, LRTOMT2, DFNB63 Leucine-rich transmembrane O-methyltransferase LRTOMT 220074 ENSG00000284844 Deafness, autosomal recessive 63, 611451 (3), Autosomal recessive Tomt (MGI:3769724)
chr11 72097291 72103386 11q13.4 11q13.4 613510 LAMTOR1, C11orf59, PDRO Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 1 LAMTOR1 55004 ENSG00000149357 Lamtor1 (MGI:1913758)
chr11 72106375 72112779 11q13.4 11q13.4 614717 ANAPC15, APC15 Anaphase-promoting complex, subunit 15 ANAPC15 25906 ENSG00000110200
chr11 72135709 72139891 11q13.4 11q13.4 602469 FOLR3 Folate receptor 3 FOLR3 2352 ENSG00000110203
chr11 72189557 72196322 11q13.3-q13.5 11q13.4 136430 FOLR1 Folate receptor-1, adult FOLR1 2348 ENSG00000110195 telomeric of FGF3 Neurodegeneration due to cerebral folate transport deficiency, 613068 (3), Autosomal recessive Folr1 (MGI:95568)
chr11 72216772 72221949 11q13.3-q13.5 11q13.4 136425 FOLR2 Folate receptor-2 (fetal) FOLR2 2350 ENSG00000165457 23kb from FOLR1 Folr2 (MGI:95569)
chr11 72223860 72239146 11q23 11q13.4 600829 INPPL1, OPSMD Inositol polyphosphate phosphatase-like 1 INPPL1 3636 ENSG00000165458 Opsismodysplasia, 258480 (3), Autosomal recessive Inppl1 (MGI:1333787)
chr11 72239076 72244175 11q13.3-q13.4 11q13.4 602753 PHOX2A, ARIX, CFEOM2 Paired-like (astraless) homeobox 2a PHOX2A 401 ENSG00000165462 Fibrosis of extraocular muscles, congenital, 2, 602078 (3), Autosomal recessive Phox2a (MGI:106633)
chr11 72292424 72434683 11q13.4 11q13.4 616254 CLPB, SKD3, MEGCANN, MGCA7 Caseinolytic peptidase B CLPB 81570 ENSG00000162129 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3), Autosomal recessive Clpb (MGI:1100517)
chr11 72576139 72674452 11q13.4 11q13.4 602658 PDE2A Phosphodiesterase 2A PDE2A 5138 ENSG00000186642 Pde2a (MGI:2446107)
chr11 72615062 72615129 11q13.4 11q13.4 615017 MIR139, MIR139-3p Micro RNA 139 MIR139 406931
chr11 72685068 72752388 11q13.4 11q13.4 606646 ARAP1, CENTD2, KIAA0782 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ARAP1 116985 ENSG00000186635 Arap1 (MGI:1916960)
chr11 72754728 72793704 11q13 11q13.4 617382 STARD10 START domain-containing protein 10 STARD10 10809 ENSG00000214530 Stard10 (MGI:1860093)
chr11 72836742 73142681 11q13.4 11q13.4 617556 FCHSD2, KIAA0769, NWK FCH and double SH3 domains protein 2 FCHSD2 9873 ENSG00000137478 Fchsd2 (MGI:2448475)
chr11 73200415 73246742 11q13.5 11q13.4 600041 P2RY2, P2Y2, P2U Purinergic receptor P2Y, G-protein coupled, 2 P2RY2 5029 ENSG00000175591 P2ry2 (MGI:105107)
chr11 73264502 73298624 11q13.5 11q13.4 602451 P2RY6, P2Y6 Pyrimidinergic receptor P2Y, G protein-coupled, 6 P2RY6 5031 ENSG00000171631 P2ry6 (MGI:2673874)
chr11 73305960 73369379 11q13.4 11q13.4 617043 ARHGEF17, RHOGEF17, TEM4, KIAA0337 Rho guanine nucleotide exchange factor 17 ARHGEF17 9828 ENSG00000110237 Arhgef17 (MGI:2673002)
chr11 73376359 73397473 11q13.4 11q13.4 611211 RELT, TNFRSF19L Receptor expressed in lymphoid tissues RELT 84957 ENSG00000054967 Relt (MGI:2443373)
chr11 73400477 73598188 11q13.4 11q13.4 616316 RAM168A, TCRP1, KIAA0280 Family with sequence similarity 168, member A FAM168A 23201 ENSG00000054965 Fam168a (MGI:2442372)
chr11 73646177 73662818 11q13-q14.1 11q13.4 607651 PLEKHB1, PHR1, KPL1 Pleckstrin homology domain-containing protein, family B, member 1 PLEKHB1 58473 ENSG00000021300 Plekhb1 (MGI:1351469)
chr11 73675637 73761155 11q13.4 11q13.4 179513 RAB6A, RAB6 Oncogene RAB6 RAB6A 5870 ENSG00000175582 previously assigned to 2q14-q21 Rab6a (MGI:894313)
chr11 73787871 73864610 11q13.2 11q13.4 611853 MRPL48 Mitochondrial ribosomal protein L48 MRPL48 51642 ENSG00000175581 pseudogene on 6 Mrpl48 (MGI:1289321)
chr11 73870257 73876900 11q13.4 11q13.4 608016 CHCHD8, E2IG2 Coiled-coil-helix-coiled-coil-helix domain containing 8 COA4 51287 ENSG00000181924 Coa4 (MGI:1915435)
chr11 73950318 73970286 11q13.3 11q13.4 610263 DNAJB13, TSARG6, CILD34 DNAJ/HSP40 homolog, subfamily B, member 13 DNAJB13 374407 ENSG00000187726 Ciliary dyskinesia, primary, 34, 617091 (3), Autosomal recessive Dnajb13 (MGI:1916637)
chr11 73974670 73982871 11q13 11q13.4 601693 UCP2, BMIQ4 Uncoupling protein-2 UCP2 7351 ENSG00000175567 {Obesity, susceptibility to, BMIQ4}, 607447 (3) Ucp2 (MGI:109354)
chr11 74000280 74009236 11q13 11q13.4 602044 UCP3 Uncoupling protein-3 UCP3 7352 ENSG00000175564 {Obesity, severe, and type II diabetes}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Ucp3 (MGI:1099787)
chr11 74012577 74171209 11q13.4 11q13.4 615944 C2CD3, OFD14 C2 calcium-dependent domain-containing protein 3 C2CD3 26005 ENSG00000168014 mutation identified in 1 OFD14 patient and 1 OFD14 fetus ?Orofaciodigital syndrome XIV, 615948 (3), Autosomal recessive C2cd3 (MGI:2142166)
chr11 74171062 74254702 11q13.4 11q13.4 611117 PPME1 Protein phosphatase methylesterase 1 PPME1 51400 ENSG00000214517 Ppme1 (MGI:1919840)
chr11 74259922 74311675 11q12 11q13.4 608987 P4HA3 Procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit, isoform 3 P4HA3 283208 ENSG00000149380 P4ha3 (MGI:2444049)
chr11 74330311 74398750 11q13.4 11q13.4 611610 PGM2L1 Phosphoglucomutase 2-like 1 PGM2L1 283209 ENSG00000165434 Pgm2l1 (MGI:1918224)
chr11 74454840 74467728 11q13-q14 11q13.4 604433 KCNE3, HOKPP, HYPP Potassium voltage-gated channel, ISK-related subfamily, member 3 KCNE3 10008 ENSG00000175538 Brugada syndrome 6, 613119 (3) Kcne3 (MGI:1891124)
chr11 74490510 74493712 11q13.4 11q13.4 617659 LIPT2 Lipoyl(octanoyl) transferase 2 LIPT2 387787 ENSG00000175536 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3), Autosomal recessive Lipt2 (MGI:1914414)
chr11 74696427 74731384 11q13.4 11q13.4 613127 CHRDL2, CHL2, BNF1 Chordin-like 2 CHRDL2 25884 ENSG00000054938 Chrdl2 (MGI:1916371)
chr11 74840909 74949186 11q13.3 11q13.4 609788 XRRA1 X-ray radiation resistance-associated 1 XRRA1 143570 ENSG00000166435 Xrra1 (MGI:2181647)
chr11 74988904 75007697 11q13.5 11q13.4 604617 NEU3, SIAL3 Neuraminidase 3 (membrane sialidase; sialidase 3) NEU3 10825 ENSG00000162139 Neu3 (MGI:1355305)
chr11 75150986 75206399 Chr.11 11q13.4 604988 SLC21A9, OATPB Solute carrier family 21 (organic anion transporter), member 9 SLCO2B1 11309 ENSG00000137491 Slco2b1 (MGI:1351872)
chr11 75260121 75351830 11q13 11q13.4 107940 ARRB1 Arrestin, beta 1 ARRB1 408 ENSG00000137486 Arrb1 (MGI:99473)
chr11 75335091 75335185 11q13 11q13.4 613755 MIR326, MIRN326 Micro RNA 326 MIR326 442900
chr11 75399490 75422301 11q13.3-q13.5 11q13.4 600454 RPS3 Ribosomal protein S3 RPS3 6188 ENSG00000149273 Rps3 (MGI:1350917)
chr11 75400390 75400537 11q13.3-q13.5 11q13.4 600455 RNU15A RNA, U15a small nucleolar SNORD15A 6079 processed from intron of RPS3
chr11 75434639 75525915 11q13.4-q13.5 11q13.4-q13.5 609632 GDPD5, GDE2, PP1665 Glycerophosphodiester phosphodiesterase domain-containing protein 3 GDPD5 81544 ENSG00000158555 Gdpd5 (MGI:2686926)
chr11 75500000 77400000 11q13.5 613064 ATOD7 Dermatitis, atopic, 7 100310755 associated with rs7927894 {Dermatitis, atopic, susceptibility to, 7}, 613064 (2)
chr11 75562055 75572803 11q13.5 11q13.5 600943 SERPINH1, SERPINH2, PPROM, CBP2, CBP1, OI10 Serpin peptidase inhibitor, clade H, member 1 SERPINH1 871 ENSG00000149257 Osteogenesis imperfecta, type X, 613848 (3), Autosomal recessive; {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3) Serpinh1 (MGI:88283)
chr11 75586913 75668723 11q13.5 11q13.5 601783 MAP6, MTAP6, STOP, KIAA1878 Microtubule-associated protein 6 MAP6 4135 ENSG00000171533 Map6 (MGI:1201690)
chr11 75717818 75732957 11q13.5 11q13.5 610270 MOGAT2, MGAT2 Monoacylglycerol O-acyltransferase 2 MOGAT2 80168 ENSG00000166391 Mogat2 (MGI:2663253)
chr11 75768732 75801535 11q13.5 11q13.5 606983 DGAT2 Diacylglycerol O-acyltransferase 2 DGAT2 84649 ENSG00000062282 Dgat2 (MGI:1915050)
chr11 75815166 76144237 11q13 11q13.5 602493 UVRAG UV radiation resistance-associated gene UVRAG 7405 ENSG00000198382 Uvrag (MGI:1925860)
chr11 76186325 76210841 11q13.5 11q13.5 603699 WNT11 Wingless-type MMTV integration site family, member 11 WNT11 7481 ENSG00000085741 Wnt11 (MGI:101948)
chr11 76349955 76380964 11q13.5 11q13.5 607374 PRKRIR PRKR inhibitor, repressor of THAP12 5612 ENSG00000137492 Thap12 (MGI:1920231)
chr11 76444927 76553030 11q13.4-q13.5 11q13.5 608574 EMSY, C11orf30 EMSY gene EMSY 56946 ENSG00000158636 100kb from GARP Emsy (MGI:1924203)
chr11 76657440 76670940 11q13.5 11q13.5 137207 LRRC32, GARP, D11S833E Leucine rich repeat containing 32 LRRC32 2615 ENSG00000137507 Lrrc32 (MGI:93882)
chr11 76782312 76798153 11q13.5 11q13.5 608015 TSKU, E2IG4, TSK Tsukushin TSKU 25987 ENSG00000182704 Tsku (MGI:2443855)
chr11 76860872 77026796 11q13.5 11q13.5 617036 ACER3, APHC, PHCA, PLDECO Alkaline ceramidase 3 ACER3 55331 ENSG00000078124 mutation identified in 1 PLDECO family ?Leukodystrophy, progressive, early childhood-onset, 617762 (3), Autosomal recessive Acer3 (MGI:1913440)
chr11 77034340 77041972 11q14 11q13.5 615315 B3GNT6 Beta-1,3-N-acetylglucosaminyltransferase 6 B3GNT6 192134 ENSG00000198488 B3gnt6 (MGI:3039603)
chr11 77066944 77126154 11q14 11q13.5 602537 CAPN5, HTRA3, VRNI Calpain 5 CAPN5 726 ENSG00000149260 Vitreoretinopathy, neovascular inflammatory, 193235 (3), Autosomal dominant Capn5 (MGI:1100859)
chr11 77102839 77103330 11q13.4-q14.1 11q13.5 164340 OMP Olfactory marker protein OMP 4975 ENSG00000254550 Omp (MGI:97436)
chr11 77128191 77215240 11q13.5 11q13.5 276903 MYO7A, USH1B, DFNB2, DFNA11 Myosin VIIA MYO7A 4647 ENSG00000137474 Deafness, autosomal dominant 11, 601317 (3), Autosomal dominant; Deafness, autosomal recessive 2, 600060 (3), Autosomal recessive; Usher syndrome, type 1B, 276900 (3), Autosomal recessive Myo7a (MGI:104510)
chr11 77322014 77514956 11q13-q14 11q13.5-q14.1 602590 PAK1 p21/CDC42/RAC1-activated kinase 1 PAK1 5058 ENSG00000149269 Pak1 (MGI:1339975)
chr11 77400000 93000000 11q14 610888 GCRG224 Gastric cancer-related gene 224 360219
chr11 77400000 110600000 11q14-q22 612017 IHPS3 Pyloric stenosis, infantile hypertrophic, 3 100188876 max lod at rs541821 Pyloric stenosis, infantile hypertrophic, 3, 612017 (2)
chr11 77400000 97400000 11q14-q21 603342 SCZD2 Schizophrenia susceptibility locus, chromosome 11-related SCZD2 6378 {?Schizophrenia}, 181500 (2), Autosomal dominant
chr11 77400000 93000000 11q14 607279 SLEH1 Systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 SLEH1 170682 {Systemic lupus erythematosus with hemolytic anemia}, 607279 (2)
chr11 77589629 77610355 11q14 11q14.1 609914 AQP11, AQPX1 Aquaporin 11 AQP11 282679 ENSG00000178301 Aqp11 (MGI:1913583)
chr11 77616150 77637805 11q13.5-q14.1 11q14.1 602158 CLNS1A, CLNS1B Chloride channel, nucleotide-sensitive, 1A CLNS1A 1207 ENSG00000074201 CLNS1B on 6p12.1-q13 = pseudogene? Clns1a (MGI:109638)
chr11 77660008 77872231 11q13 11q14.1 608522 HBXAP, RSF1 Hepatitis B virus X-associated protein RSF1 51773 ENSG00000048649 Rsf1 (MGI:2682305)
chr11 77874417 77994670 11q14.1 11q14.1 611348 INTS4, INT4 Integrator complex subunit 4 INTS4 92105 ENSG00000149262 Ints4 (MGI:1917164)
chr11 78063860 78068356 11q13.5 11q14.1 601926 THRSP Thyroid hormone responsive SPOT14, rat, homolog of THRSP 7069 ENSG00000151365 Thrsp (MGI:109126)
chr11 78068346 78080218 11q14.1 11q14.1 603845 NDUFC2 NADH-ubiquinone oxidoreductase 1, subunit C2 NDUFC2 4718 ENSG00000151366 Ndufc2 (MGI:1344370)
chr11 78100941 78139652 11pter-p15.5 11q14.1 608103 ALG8, CDG1H, PCLD3 Alg8, S. cerevisiae, homolog of ALG8 79053 ENSG00000159063 Congenital disorder of glycosylation, type Ih, 608104 (3), Autosomal recessive; Polycystic liver disease 3 with or without kidney cysts, 617874 (3) Alg8 (MGI:2141959)
chr11 78215289 78417821 11q13.4-q13.5 11q14.1 606203 GAB2 GRB2-associated binding protein 2 GAB2 9846 ENSG00000033327 Gab2 (MGI:1333854)
chr11 78435960 78574863 11q14.1 11q14.1 612803 NARS2, COXPD24 Asparaginyl-tRNA synthetase 2 NARS2 79731 ENSG00000137513 Combined oxidative phosphorylation deficiency 24, 616239 (3), Autosomal recessive Nars2 (MGI:2142075)
chr11 78653282 79441018 11q14.1 11q14.1 610084 TENM4, ODZ4, TNM4, DOC4, KIAA1302, ETM5 Teneurin transmembrane protein 4 TENM4 26011 ENSG00000149256 Essential tremor, hereditary, 5, 616736 (3), Autosomal dominant Tenm4 (MGI:2447063)
chr11 82822939 82901739 11q14 11q14.1 176785 PRCP, PCP Prolylcarboxypeptidase (angiotensinase C) PRCP 5547 ENSG00000137509 Prcp (MGI:1919711)
chr11 82973132 83071922 11q12-q14 11q14.1 605693 RAB30 Ras-associated protein RAB30 RAB30 27314 ENSG00000137502 Rab30 (MGI:1923235)
chr11 83157094 83185793 11q14.1 11q14.1 608876 PCF11, KIAA0824 PCF11, yeast, homolog of PCF11 51585 ENSG00000165494 Pcf11 (MGI:1919579)
chr11 83455008 85628534 11q21 11q14.1 603583 DLG2 Discs large, Drosophila, homolog of, 2 (channel-associated protein of synapses, 110kD) DLG2 1740 ENSG00000150672 Dlg2 (MGI:1344351)
chr11 85628572 85636539 11q14.1 11q14.1 615533 TMEM126B Transmembrane protein 126B TMEM126B 55863 ENSG00000171204 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Tmem126b (MGI:1915722)
chr11 85647918 85656552 11q14.1-q21 11q14.1 612988 TMEM126A, OPA7 Transmembrane protein 126A TMEM126A 84233 ENSG00000171202 Optic atrophy 7, 612989 (3), Autosomal recessive Tmem126a (MGI:1913521)
chr11 85694220 85811181 11q14 11q14.1 612880 SYTL2, SLP2, SLP2A, EXO4, KIAA1597 Synaptotagmin-like 2 SYTL2 54843 ENSG00000137501 Sytl2 (MGI:1933366)
chr11 85957170 86069880 11q14 11q14.2 603025 PICALM, CALM, CLTH, LAP Phosphatidylinositol-binding clathrin assembly protein PICALM 8301 ENSG00000073921 fuses with AF10 in t(10;11) Leukemia, acute myeloid, somatic, 601626 (3) Picalm (MGI:2385902)
chr11 86244383 86285419 11q14.2-q22.3 11q14.2 605984 EED, WAIT1, COGIS Embryonic ectoderm development protein, mouse, homolog of EED 8726 ENSG00000074266 Cohen-Gibson syndrome, 617561 (3), Autosomal dominant Eed (MGI:95286)
chr11 86302210 86345942 11q14.2 11q14.2 614908 HIKESHI, C11orf73, HLD13 Hikeshi HIKESHI 51501 ENSG00000149196 Leukodystrophy, hypomyelinating, 13, 616881 (3), Autosomal recessive Hikeshi (MGI:96738)
chr11 86441107 86674745 11cen-q22.3 11q14.2 604626 ME3 Malic enzyme 3 ME3 10873 ENSG00000151376 Me3 (MGI:1916679)
chr11 86945674 86955397 11q14-q21 11q14.2 604579 FZD4, EVR1 Frizzled, Drosophila, homolog of, 4 FZD4 8322 ENSG00000174804 Exudative vitreoretinopathy 1, 133780 (3), Autosomal dominant; Retinopathy of prematurity, 133780 (3), Autosomal dominant Fzd4 (MGI:108520)
chr11 87037843 87328833 11q14.2 11q14.2 616360 TMEM135, PMP52 Transmembrane protein 135 TMEM135 65084 ENSG00000166575 Tmem135 (MGI:1920009)
chr11 87809489 88175503 11q13.5-q22.3 11q14.2 606281 RAB38 Ras-family, member RAB38 RAB38 23682 ENSG00000123892 Rab38 (MGI:1919683)
chr11 88293591 88337786 11q14.1-q14.3 11q14.2 602365 CTSC, CPPI, PALS, PLS, HMS, PDON1, JPD Cathepsin C CTSC 1075 ENSG00000109861 Haim-Munk syndrome, 245010 (3), Autosomal recessive; Papillon-Lefevre syndrome, 245000 (3), Autosomal recessive; Periodontitis 1, juvenile, 170650 (3), Autosomal recessive Ctsc (MGI:109553)
chr11 88504575 89065962 11q14.2-q14.3 11q14.2-q14.3 604102 GRM5, MGLUR5 Glutamate receptor, metabotropic, 5 GRM5 2915 ENSG00000168959 Grm5 (MGI:1351342)
chr11 89177564 89295758 11q14-q21 11q14.3 606933 TYR, SHEP3, CMM8, OCA1A, ATN Tyrosinase TYR 7299 ENSG00000077498 Albinism, oculocutaneous, type IA, 203100 (3), Autosomal recessive; Albinism, oculocutaneous, type IB, 606952 (3); {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3); [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3); [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3); Waardenburg syndrome/albinism, digenic, 103470 (3), Autosomal dominant Tyr (MGI:98880)
chr11 89324352 89589610 11q14.2-q21 11q14.3 605261 NOX4, RENOX NADPH oxidase 4 NOX4 50507 ENSG00000086991 Nox4 (MGI:1354184)
chr11 89637579 89698717 11p13-p11.1 11q14.3 609020 FOLH1B, PSMAL, GCP3 Folate hydrolase 1B FOLH1B 219595
chr11 89766435 89808574 11p11.12-q12 11q14.3 606124 RNF18 RING finger protein-18 TRIM49 57093 ENSG00000168930
chr11 90085949 90087130 11q14.3 11q14.3 613696 UBTFL1, HMGPI Upstream binding transcription factor (RNA polymerase I)-like 1 UBTFL1 642623 ENSG00000255009
chr11 90131692 90193576 11q14.3-q21 11q14.3 611636 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 NAALAD2 10003 ENSG00000077616 Naalad2 (MGI:1919810)
chr11 92224635 92896472 11q14.3-q21 11q14.3 612483 FAT3 FAT tumor suppressor, Drosophila, homolog of, 3 FAT3 120114 ENSG00000165323 Fat3 (MGI:2444314)
chr11 92969622 92986240 11q21-q22 11q14.3 600804 MTNR1B Melatonin receptor 1B MTNR1B 4544 ENSG00000134640 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant Mtnr1b (MGI:2181726)
chr11 93000000 110600000 11q21-q22 613233 FGQTL3 Fasting plasma glucose level QTL 3 100379217 associated with rs10830963 [Fasting plasma glucose level QTL 3], 613233 (2)
chr11 93144170 93386037 11q14.3 11q21 613760 SLC36A4, PAT4 Solute carrier family 36, member 4 SLC36A4 120103 ENSG00000180773 Slc36a4 (MGI:2442595)
chr11 93329078 93438469 11q21 11q21 617148 DEUP1, CCDC67 Deuterosome assembly protein 1 DEUP1 159989 ENSG00000165325 Deup1 (MGI:2443026)
chr11 93478471 93553978 11q21 11q21 609477 C11orf75, FN5 FN5, pufferfish, homolog of SMCO4 56935 ENSG00000166002
chr11 93661649 93730380 11q21 11q21 617728 CEP295, KIAA1731 Centrosomal protein, 295kD CEP295 85459 ENSG00000166004 Cep295 (MGI:2442521)
chr11 93730193 93741536 11q21 11q21 612823 TAF1D, RAFI41, JOSD3 TATA box-binding protein-associated factor 1D TAF1D 79101 ENSG00000166012 Taf1d (MGI:1922566)
chr11 93741593 93763101 11q21 11q21 615810 C11orf54, PTOD012 Chromosome 11 open reading frame 54 C11orf54 28970 ENSG00000182919 4931406C07Rik (MGI:1918234)
chr11 93784238 93813329 11q21 11q21 603810 MED17, CRSP6, CRSP77, TRAP80, DRIP80 Mediator complex subunit 17 MED17 9440 ENSG00000042429 Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3), Autosomal recessive Med17 (MGI:2182585)
chr11 94128927 94185595 11q21 11q21 608420 PANX1, PX1 Pannexin 1 PANX1 24145 ENSG00000110218 Panx1 (MGI:1860055)
chr11 94305636 94307691 11q21 11q21 615737 FOLR4 Folate receptor 4 IZUMO1R 390243 ENSG00000183560 Izumo1r (MGI:1929185)
chr11 94377310 94401422 11q21 11q21 605569 GPR83, GIR, GPR72 G protein-coupled receptor 83 GPR83 10888 ENSG00000123901 Gpr83 (MGI:95712)
chr11 94415569 94512700 11q21 11q21 600814 MRE11A, MRE11, ATLD Meiotic recombination 11, S. cerevisiae, homolog A of MRE11 4361 ENSG00000020922 Ataxia-telangiectasia-like disorder 1, 604391 (3), Autosomal recessive Mre11a (MGI:1100512)
chr11 94543850 94549897 11q21 11q21 104230 FUT4, FCT3A, CD15 Fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) FUT4 2526 ENSG00000196371 Fut4 (MGI:95594)
chr11 94567307 94621420 11q12 11q21 610315 PIWIL4, HIWI2, MIWI2 PIWI-like 4 PIWIL4 143689 ENSG00000134627 Piwil4 (MGI:3041167)
chr11 94706417 94876752 11q21 11q21 614657 AMOTL1, JEAP Angiomotin-like 1 AMOTL1 154810 ENSG00000166025 Amotl1 (MGI:1922973)
chr11 94973680 94999513 11q21 11q21 609766 JMJD2D Jumonji domain-containing protein 2D KDM4D 55693 ENSG00000186280 Kdm4d (MGI:3606484)
chr11 95025257 95027595 11q21 11q21 616581 KDM4E, JMJD2E Lysine-specific demethylase 4E KDM4E 390245 ENSG00000235268
chr11 95066876 95071226 11q22 11q21 603269 SRSF8, SFRS2B, SRp46 Splicing factor, arginine/serine-rich, 8 SRSF8 10929 ENSG00000263465
chr11 95165512 95232540 11q21 11q21 607768 SEST3 Sestrin 3 SESN3 143686 ENSG00000149212 Sesn3 (MGI:1922997)
chr11 95790460 95832692 11q21 11q21 607951 CEP57, PIG8, TSP57, KIAA0092, MVA2 Centrosomal protein 57kD CEP57 9702 ENSG00000166037 Mosaic variegated aneuploidy syndrome 2, 614114 (3), Autosomal recessive Cep57 (MGI:1915551)
chr11 95832879 95924206 11q22 11q21 603557 MTMR2, CMT4B1 Myotubularin-related protein 2 MTMR2 8898 ENSG00000087053 Charcot-Marie-Tooth disease, type 4B1, 601382 (3), Autosomal recessive Mtmr2 (MGI:1924366)
chr11 95976592 96343307 11q21 11q21 607537 MAML2, MAM3 Mastermind-like 2 MAML2 84441 ENSG00000184384 t(11;19) Mucoepidermoid salivary gland carcinoma (3)
chr11 96341437 96341525 11q21 11q21 615372 MIR1260B Micro RNA 1260B MIR1260B 100422991
chr11 96389993 96393562 11q21 11q21 603211 JRKL, HHMJG Jerky, mouse, homolog-like JRKL 8690 ENSG00000183340 Jrkl (MGI:1924782)
chr11 97400000 135086622 11q22-qter 105580 ANC Anal canal carcinoma 8066 3p22 also deleted ?Anal canal carcinoma, 105580 (2), Autosomal dominant
chr11 99020903 100358884 11q21-q22.2 11q22.1 607219 CNTN5, NB2 Contactin 5 CNTN5 53942 ENSG00000149972 Cntn5 (MGI:3042287)
chr11 100687239 100993944 11q22.1 11q22.1 615936 ARHGAP42, GRAF3 Rho GTPase-activating protein 42 ARHGAP42 143872 ENSG00000165895 Arhgap42 (MGI:1918794)
chr11 101029623 101130680 11q22 11q22.1 607311 PGR Progesterone receptor PGR 5241 ENSG00000082175 11q13 = earlier regionalization ?Progesterone resistance, 264080 (2), Autosomal recessive Pgr (MGI:97567)
chr11 101451469 101583927 11q21-q22 11q22.1 603652 TRPC6, TRP6, FSGS2 Transient receptor potential channel-6 TRPC6 7225 ENSG00000137672 Glomerulosclerosis, focal segmental, 2, 603965 (3) Trpc6 (MGI:109523)
chr11 101890673 101917049 11q22 11q22.1 607666 ANGPTL5 Angiopoietin-like 5 ANGPTL5 253935 ENSG00000187151
chr11 101915014 102001064 11q22.1 11q22.1 614634 KIAA1377 KIAA1377 gene CEP126 57562 ENSG00000110318 Cep126 (MGI:2680221)
chr11 102109956 102233422 11q13 11q22.1 606608 YAP1, COB1 Yes-associated protein 1, 65kD YAP1 10413 ENSG00000137693 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 (3), Autosomal dominant Yap1 (MGI:103262)
chr11 102317372 102339402 11q22-q23 11q22.2 601721 API2, HAIP1 Apoptosis inhibitor-2 BIRC3 330 ENSG00000023445 fused with MALT1 in MALT lymphoma Birc3 (MGI:1197007)
chr11 102347181 102378669 11q22-q23 11q22.2 601712 API1, HIAP2 Apoptosis inhibitor-1 BIRC2 329 ENSG00000110330 Birc2 (MGI:1197009)
chr11 102396324 102453043 11q22.1 11q22.2 606356 TMEM123, PORIMIN Transmembrane protein 123 TMEM123 114908 ENSG00000152558 Tmem123 (MGI:1919179)
chr11 102520507 102530752 11q21-q22 11q22.2 178990 MMP7 Matrix metalloproteinase 7 (matrilysin, uterine) MMP7 4316 ENSG00000137673 Mmp7 (MGI:103189)
chr11 102576834 102625331 11q22.3-q23 11q22.2 604629 MMP20, AI2A2 Matrix metalloproteinase-20 (enamelysin) MMP20 9313 ENSG00000137674 Amelogenesis imperfecta, type IIA2, 612529 (3), Autosomal recessive Mmp20 (MGI:1353466)
chr11 102711794 102724966 11q21-q22 11q22.2 120355 MMP8, CLG1 Matrix metalloproteinase 8 (neutrophil collagenase) MMP8 4317 ENSG00000118113 Mmp8 (MGI:1202395)
chr11 102770501 102780627 11q22.3-q23 11q22.2 185260 MMP10, STMY2 Matrix metalloproteinase 10 (stromelysin 2) MMP10 4319 ENSG00000166670 Mmp10 (MGI:97007)
chr11 102789909 102798234 11q22-q23 11q22.2 120353 MMP1, CLG Matrix metalloproteinase 1 (interstitial collagenase) MMP1 4312 ENSG00000196611 COPD, rate of decline of lung function in, 606963 (3); {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3), Autosomal recessive Mmp1a (MGI:1933846)
chr11 102835796 102843688 11q23 11q22.2 185250 MMP3, STMY1, CHDS6 Matrix metalloproteinase 3 (stromelysin 1, progelatinase) MMP3 4314 ENSG00000149968 {Coronary heart disease, susceptibility to, 6}, 614466 (3) Mmp3 (MGI:97010)
chr11 102862728 102875033 11q22.2-q22.3 11q22.2 601046 MMP12 Matrix metalloproteinase 12 (macrophage elastase) MMP12 4321 ENSG00000262406 Mmp12 (MGI:97005)
chr11 102942991 102955733 11q22.3 11q22.2 600108 MMP13, CLG3, MANDP1, MDST Matrix metalloproteinase 13 (collagenase 3) MMP13 4322 ENSG00000137745 Metaphyseal anadysplasia 1, 602111 (3), Autosomal dominant; Metaphyseal dysplasia, Spahr type, 250400 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3), Autosomal dominant Mmp13 (MGI:1340026)
chr11 103050683 103092214 11q22.3 11q22.3 616522 DCUN1D5, SCCRO5 DCN1 domain-containing protein 5 DCUN1D5 84259 ENSG00000137692 Dcun1d5 (MGI:1924113)
chr11 103109430 103479862 11q22.3 11q22.3 603297 DYNC2H1, DNCH2, DHC2, ATD3, SRPS2B, SRTD3 Dynein, cytoplasmic-2, heavy chain-1 DYNC2H1 79659 ENSG00000187240 1 patient showed heterozygous NEK2 and DYNC2H1 mutations Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3), Autosomal recessive, Digenic recessive Dync2h1 (MGI:107736)
chr11 103907185 104164298 11q22.3 11q22.3 609673 PDGFD, SCDGFB, IEGF Platelet-derived growth factor D PDGFD 80310 ENSG00000170962 Pdgfd (MGI:1919035)
chr11 104885717 104898669 11q22.3 11q22.3 608633 CASP12, CASP12P1 Caspase 12, apoptosis-related cysteine protease CASP12 100506742 ENSG00000204403 {Sepsis, susceptibility to} (3)
chr11 104942865 104968597 11q22.2-q22.3 11q22.3 602664 CASP4 Caspase 4, apoptosis-related cysteine protease CASP4 837 ENSG00000196954 Casp4 (MGI:107700)
chr11 104994234 105023901 11q22.2-q22.3 11q22.3 602665 CASP5 Caspase 5, apoptosis-related cysteine protease CASP5 838 ENSG00000137757
chr11 105025507 105035590 11q22.2-q22.3 11q22.3 147678 CASP1, IL1BC Caspase 1, apoptosis-related cysteine protease (interleukin-1, beta convertase) CASP1 834 ENSG00000137752 Casp1 (MGI:96544)
chr11 105040217 105045415 11q22 11q22.3 615680 CARD16, COP1 Caspase recruitment domain-containing protein 16 CARD16 114769 ENSG00000204397
chr11 105080452 105101491 11q22 11q22.3 609490 INCA Inhibitory caspase recruitment domain protein CARD17 440068 ENSG00000255221
chr11 105137720 105139733 11q22.3 11q22.3 605354 CARD18, ICEBERG Caspase recruitment domain-containing protein 18 CARD18 59082 ENSG00000255501
chr11 105609539 105982091 11q22-q23 11q22.3 138246 GRIA4, GLUR4, NEDSGA Glutamate receptor, ionotropic, AMPA 4 GRIA4 2893 ENSG00000152578 Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3), Autosomal dominant Gria4 (MGI:95811)
chr11 106077564 106098691 11q22.3 11q22.3 607756 AASDHPPT Alpha-aminoadipate semialdehyde dehydrogenase-phosphopantetheinyl transferase AASDHPPT 60496 ENSG00000149313 Aasdhppt (MGI:1914868)
chr11 106674011 107018444 11q21-q22 11q22.3 601244 GUCY1A2, GUC1A2 Guanylate cyclase 1, soluble, alpha 2 GUCY1A2 2977 ENSG00000152402 Gucy1a2 (MGI:2660877)
chr11 107502725 107565739 11q22.3 11q22.3 613306 ALKBH8, ABH8 AlkB, E. coli, homolog of, 8 ALKBH8 91801 ENSG00000137760 Alkbh8 (MGI:1914917)
chr11 107591008 107666778 11q22.3 11q22.3 615456 ELMOD1 ELMO/CED12 domain-containing protein 1 ELMOD1 55531 ENSG00000110675 Elmod1 (MGI:3583900)
chr11 107707374 107712060 11q22-q23 11q22.3 602203 SLN Sarcolipin SLN 6588 ENSG00000170290
chr11 108008732 108107775 11q22-q23 11q22.3 601741 CUL5, VACM1 Cullin-5 (vasopressin-activated calcium-mobilizing receptor-1) CUL5 8065 ENSG00000166266 Cul5 (MGI:1922967)
chr11 108116704 108148821 11q22.3-q23.1 11q22.3 607809 ACAT1 Acetyl-Coenzyme A acetyltransferase-1 (acetoacetyl Coenzyme A thiolase) ACAT1 38 ENSG00000075239 cluster: cen-STMY2-CLG-STMY1-ter Alpha-methylacetoacetic aciduria, 203750 (3), Autosomal recessive Acat1 (MGI:87870)
chr11 108155279 108222637 11q22.3 11q22.3 601448 NPAT, E14 Nuclear protein, ataxia-telangiectasia locus NPAT 4863 ENSG00000149308 Npat (MGI:107605)
chr11 108222483 108369098 11q22.3 11q22.3 607585 ATM, ATA, AT1 Ataxia-telangiectasia mutated (includes complementation groups A, C, D, and E) ATM 472 ENSG00000149311 Ataxia-telangiectasia, 208900 (3), Autosomal recessive; {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; Lymphoma, B-cell non-Hodgkin, somatic (3); Lymphoma, mantle cell, somatic (3); T-cell prolymphocytic leukemia, somatic (3) Atm (MGI:107202)
chr11 108505430 108607513 11q22.3 11q22.3 612878 EXPH5, SLAC2B, KIAA0624 Exophilin 5 EXPH5 23086 ENSG00000110723 Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3), Autosomal recessive Exph5 (MGI:2443248)
chr11 108665024 108940929 11q22-q23 11q22.3 601235 DDX10 DEAD/H box-10 (RNA helicase) DDX10 1662 ENSG00000178105 400kb telomeric to ATM; pseudogene on 9q21-q22; fused with NUP98 in AML Ddx10 (MGI:1924841)
chr11 110092424 110171840 11q22.3 11q22.3 615001 ZC3H12C, MCPIP3 Zinc finger CCCH domain-containing protein 12C ZC3H12C 85463 ENSG00000149289 Zc3h12c (MGI:3026959)
chr11 110174879 110296711 11q23 11q22.3 179410 RDX, DFNB24 Radixin RDX 5962 ENSG00000137710 Deafness, autosomal recessive 24, 611022 (3), Autosomal recessive Rdx (MGI:97887)
chr11 110429936 110464883 11q22 11q22.3 103260 FDX1, ADX Ferredoxin-1 (adrenodoxin) FDX1 2230 ENSG00000137714 pseudogene on 20q11-q12 Fdx1 (MGI:103224)
chr11 110600000 130900000 11q23-q24 612629 ADIPQTL4 Adiponectin, serum level of, quantitative trait locus locus 4 100271698 between D11S925 and D11S968 {Adiponectin, serum level of, QTL4}, 612629 (2)
chr11 110600000 121300000 11q23 609354 BMND5 Bone mineral density QTL 5 554315 between D11S901 and D11S925 [Bone mineral density QTL 5], 609354 (2)
chr11 110600000 121300000 11q23 612232 CRCS7 Colorectal cancer, susceptibility to, 7 100187711 associated with rs3802842 {Colorectal cancer, susceptibility to, 7}, 612232 (2)
chr11 110600000 112700000 11q23.1 132860 EBVM1 Epstein-Barr virus modification site-1
chr11 110600000 121300000 11q23 137580 GTS Gilles de la Tourette syndrome several loci suspected (e.g., 17q25) Tourette syndrome, 137580 (2), Autosomal dominant
chr11 110600000 121300000 11q23 147791 JBS Jacobsen syndrome contiguous gene deletion syndrome Jacobsen syndrome, 147791 (4), Isolated cases
chr11 110600000 121300000 11q23 613387 NAFLD2 Fatty liver disease, nonalcoholic, susceptibility to, 2 100462725 associated with rs2854116, rs2854117 {Fatty liver disease, nonalcoholic, susceptibility to, 2}, 613387 (2), Multifactorial
chr11 110600000 121300000 11q23 188025 TCPT Thrombocytopenia, Paris-Trousseau type (deletion 11q23 syndrome) contiguous gene deletion of 11q23 ?Thrombocytopenia, Paris-Trousseau type, 188025 (4), Isolated cases
chr11 110600000 121300000 11q23 603040 TSG11 Tumor suppressor gene on chromosome 11 50970 {Nonsmall cell lung cancer}, 603040 (2)
chr11 110600000 114600000 11q23.1-q23.2 194632 ZNF125 Zinc finger protein-125 (HZF-3)
chr11 111293388 111305047 11q23 11q23.1 615693 COLCA1 Colorectal cancer-associated gene 1 COLCA1 399948
chr11 111298348 111308734 11q23 11q23.1 615694 COLCA2 Colorectal cancer-associated gene 2 COLCA2 120376 ENSG00000214290 opposite strand from COLCA1 Colca2 (MGI:2685530)
chr11 111352250 111379670 11q23.1 11q23.1 601206 POU2AF1, OBF1 POU domain, class 2, associating factor 1 POU2AF1 5450 ENSG00000110777 Pou2af1 (MGI:105086)
chr11 111383827 111514733 11q23 11q23.1 605673 BTG4, PC3B B-cell translocation gene 4 BTG4 54766 ENSG00000137707 Btg4 (MGI:1860140)
chr11 111512937 111513020 11q23.1 11q23.1 611374 MIR34B Micro RNA 34B MIR34B 407041
chr11 111513438 111513514 11q23.1 11q23.1 611375 MIR34C Micro RNA 34C MIR34C 407042
chr11 111602390 111726916 11q23.1 11q23.1 608973 SIK2, KIAA0781 Salt-inducible kinase 2 SIK2 23235 ENSG00000170145 Sik2 (MGI:2445031)
chr11 111690272 111766444 11q22-q24 11q23.1 603113 PPP2R1B Protein phosphatase 2, structural/regulatory subunit A, beta PPP2R1B 5519 ENSG00000137713 Lung cancer, 211980 (3), Autosomal recessive Ppp2r1b (MGI:1920949)
chr11 111776095 111871580 11q23 11q23.1 606941 ALG9, DIBD1, CDG1L, GIKANIS Alg9, yeast, homolog of ALG9 79796 ENSG00000086848 Congenital disorder of glycosylation, type Il, 608776 (3), Autosomal recessive; Gillessen-Kaesbach-Nishimura syndrome, 263210 (3), Autosomal recessive Alg9 (MGI:1924753)
chr11 111908619 111913212 11q22.3-q23.1 11q23.1 123590 CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2 Crystallin, alpha B CRYAB 1410 ENSG00000109846 Cardiomyopathy, dilated, 1II, 615184 (3), Autosomal dominant; Cataract 16, multiple types, 613763 (3), Autosomal recessive, Autosomal dominant; Myopathy, myofibrillar, 2, 608810 (3), Autosomal dominant; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3), Autosomal recessive Cryab (MGI:88516)
chr11 111912735 111914092 11q22-q23 11q23.1 602179 HSPB2 Heat-shock 27kD protein-2 HSPB2 3316 ENSG00000170276 Hspb2 (MGI:1916503)
chr11 111927143 112022649 11q23.1 11q23.1 610493 DIXDC1, CCD1, KIAA1735 DIX domain-containing protein 1 DIXDC1 85458 ENSG00000150764 Dixdc1 (MGI:2679721)
chr11 112024813 112064277 11q23.1 11q23.1 608770 DLAT, PDCE2 Dihydrolipoamide S-acetyltransferase DLAT 1737 ENSG00000150768 Pyruvate dehydrogenase E2 deficiency, 245348 (3), Autosomal recessive Dlat (MGI:2385311)
chr11 112086823 112095800 11q23 11q23.1 602690 SDHD, PGL1, CWS3 Succinate dehydrogenase complex, subunit D, integral membrane protein SDHD 6392 ENSG00000204370 Carcinoid tumors, intestinal, 114900 (3), Autosomal dominant; Cowden syndrome 3, 615106 (3); Merkel cell carcinoma, somatic (3); Mitochondrial complex II deficiency, 252011 (3), Autosomal recessive; Paraganglioma and gastric stromal sarcoma, 606864 (3); Paragangliomas 1, with or without deafness, 168000 (3), Autosomal dominant; Pheochromocytoma, 171300 (3), Autosomal dominant Sdhd (MGI:1914175)
chr11 112143250 112164116 11q22.2-q22.3 11q23.1 600953 IL18, IGIF Interleukin-18 IL18 3606 ENSG00000150782 Il18 (MGI:107936)
chr11 112167371 112172555 Chr.11 11q23.1 605791 TEX12 Testis-expressed gene 12 TEX12 56158 ENSG00000150783 Tex12 (MGI:1913904)
chr11 112175484 112218928 11q22.3-q23.1 11q23.1 611740 BCO2, BCDO2 Beta-carotene oxygenase 2 BCO2 83875 ENSG00000197580 Bco2 (MGI:2177469)
chr11 112226364 112233972 11q22.3-q23.3 11q23.1 612719 PTS 6-pyruvoyltetrahydropterin synthase PTS 5805 ENSG00000150787 Hyperphenylalaninemia, BH4-deficient, A, 261640 (3), Autosomal recessive Pts (MGI:1338783)
chr11 112248152 112260859 11q23.2 11q23.1 611904 C11orf34, PLET1 Chromosome 11 open reading frame 34 PLET1 349633 ENSG00000188771 Plet1 (MGI:1923759)
chr11 112961246 113278435 11q23.1 11q23.2 116930 NCAM1, MSK39 Neural cell adhesion molecule 1 NCAM1 4684 ENSG00000149294 defective in "staggerer" in mice Ncam1 (MGI:97281)
chr11 113314528 113385951 11q23.2 11q23.2 610732 TTC12, TPARM Tetratricopeptide repeat domain 12 TTC12 54970 ENSG00000149292 Ttc12 (MGI:2444588)
chr11 113386013 113400417 11q23.2 11q23.2 608774 ANKK1 Ankyrin repeat and kinase domain containing 1 ANKK1 255239 ENSG00000170209 Dopamine receptor D2, reduced brain density of (3) Ankk1 (MGI:3045301)
chr11 113409594 113475278 11q23.1 11q23.2 126450 DRD2 Dopamine receptor D2 DRD2 1813 ENSG00000149295 11q22-q23 junction; 150kb 5' to NCAM; centromeric to APOA1; telomeric to STMY1 Drd2 (MGI:94924)
chr11 113687545 113709810 11q23.3 11q23.2 606751 TMPRSS5 Transmembrane protease, serine 5 TMPRSS5 80975 ENSG00000166682 Tmprss5 (MGI:1933407)
chr11 113733182 113773762 11q23.2 11q23.2 603954 ZW10 Zeste-white 10, Drosophila, homolog of ZW10 9183 ENSG00000086827 Zw10 (MGI:1349478)
chr11 113797874 113875569 11q23 11q23.2 610748 USP28, KIAA1515 Ubiquitin-specific protease 28 USP28 57646 ENSG00000048028 Usp28 (MGI:2442293)
chr11 113898922 113949118 11q23.1 11q23.2 604654 HTR3B 5-hydroxytryptamine receptor 3B HTR3B 9177 ENSG00000149305 Htr3b (MGI:1861899)
chr11 113975074 113990312 11q23.1-q23.2 11q23.2 182139 HTR3 5-hydroxytryptamine (serotonin) receptor-3 HTR3A 3359 ENSG00000166736 Htr3a (MGI:96282)
chr11 114059575 114256769 11q23.1 11q23.2 176797 ZBTB16, ZNF145, PLZF Zinc finger- and BTB domain-containing protein 16 (promyelocytic leukemia zinc finger) ZBTB16 7704 ENSG00000109906 fused with RARA in APL of t(11;17) type Leukemia, acute promyelocytic, PL2F/RARA type (3); Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3), Autosomal recessive Zbtb16 (MGI:103222)
chr11 114295812 114312515 11q23.1 11q23.2 600008 NNMT Nicotinamide N-methyltransferase NNMT 4837 ENSG00000166741 Homocysteine plasma level, 600008 (2) Nnmt (MGI:1099443)
chr11 114400528 114410609 11q23.1-q23.2 11q23.2 612413 RBM7 RNA-binding motif protein 7 RBM7 10179 ENSG00000076053 Rbm7 (MGI:1914260)
chr11 114439385 114450278 11q23.1-q23.2 11q23.2 607149 REXO2, RFN RNA exonuclease 2, S. cerevisiae, homolog of REXO2 25996 ENSG00000076043 Rexo2 (MGI:1888981)
chr11 114600000 130900000 11q23.3-q24 607086 AAT1, FAA1 Aortic aneurysm, familial thoracic 1 252842 Aortic aneurysm, familial thoracic 1, 607086 (2)
chr11 114600000 121300000 11q23.3 605201 HDLCQ14, HYLAP High density lipoprotein cholesterol level quantitative trait locus 14 56801 High density lipoprotein cholesterol level QTL14, 605201 (2)
chr11 115173624 115504522 11q23.2 11q23.3 605686 CADM1, IGSF4, TSLC1 Cell adhesion molecule 1 CADM1 23705 ENSG00000182985 Cadm1 (MGI:1889272)
chr11 116778188 116789271 11q23.3 11q23.3 603901 ZPR1, ZNF259 ZPR1 zinc finger protein ZPR1 8882 ENSG00000109917 Zpr1 (MGI:1330262)
chr11 116789369 116792419 11q23 11q23.3 606368 APOA5 Apolipoprotein A-V APOA5 116519 ENSG00000110243 proximal to APOA1, APOC3, APOA4 Hyperchylomicronemia, late-onset, 144650 (3), Autosomal dominant; {Hypertriglyceridemia, susceptibility to}, 145750 (3), Autosomal dominant Apoa5 (MGI:1913363)
chr11 116820701 116823294 11q23 11q23.3 107690 APOA4 Apolipoprotein A-IV APOA4 337 ENSG00000110244 12 kb 3' to APOA1 Apoa4 (MGI:88051)
chr11 116829891 116833073 11q23 11q23.3 107720 APOC3, HALP2 Apolipoprotein C-III APOC3 345 ENSG00000110245 2.6kb 3' to APOA1 Apolipoprotein C-III deficiency, 614028 (3)
chr11 116835750 116837949 11q23 11q23.3 107680 APOA1 Apolipoprotein A-I APOA1 335 ENSG00000118137 Amyloidosis, 3 or more types, 105200 (3), Autosomal dominant; ApoA-I and apoC-III deficiency, combined (3); Corneal clouding, autosomal recessive (3); Hypoalphalipoproteinemia, 604091 (3) Apoa1 (MGI:88049)
chr11 116843401 117098452 11q23.3 11q23.3 614776 SIK3, KIAA0999 Salt-inducible kinase 3 SIK3 23387 ENSG00000160584 Sik3 (MGI:2446296)
chr11 117144283 117178172 11q23 11q23.3 602508 PAFAH1B2 Platelet-activating factor acetylhydrolase, isoform Ib, beta subunit PAFAH1B2 5049 ENSG00000168092 Pafah1b2 (MGI:108415)
chr11 117179222 117197444 11q23.3 11q23.3 617551 SIDT2 SID1 transmembrane family, member 2 SIDT2 51092 ENSG00000149577 Sidt2 (MGI:2446134)
chr11 117199293 117207464 11q23.2 11q23.3 600818 TAGLN, SMCC, SM22 Transgelin TAGLN 6876 ENSG00000149591 Tagln (MGI:106012)
chr11 117201155 117232524 11q23.3 11q23.3 604872 PCSK7, PC8, PC7, LPC Proprotein convertase, subtilisin/kexin-type, 7 PCSK7 9159 ENSG00000160613 Pcsk7 (MGI:107421)
chr11 117285685 117316255 11q23.3 11q23.3 604252 BACE1, BACE Beta-site amyloid beta A4 precursor protein-cleaving enzyme (secretase, beta; memapsin 2) BACE1 23621 ENSG00000186318 Bace1 (MGI:1346542)
chr11 117291345 117292169 11q23.3 11q23.3 614263 BACE1AS BACE1 antisense RNA BACE1-AS 100379571
chr11 117316345 117413265 11q23.3 11q23.3 614848 CEP164, KIAA1052 Centrosomal protein, 164kD CEP164 22897 ENSG00000110274 Nephronophthisis 15, 614845 (3), Autosomal recessive Cep164 (MGI:2384878)
chr11 117427771 117797260 11q23 11q23.3 611782 DSCAML1, KIAA1132 Down syndrome cell adhesion molecule-like 1 DSCAML1 57453 ENSG00000177103 Dscaml1 (MGI:2150309)
chr11 117820074 117828091 11q23 11q23.3 601814 FXYD2, ATP1G1, HOMG2 FXYD domain-containing ion transport regulator 2 (sodium-potassium-ATPase, gamma polypeptide) FXYD2 486 ENSG00000137731 Hypomagnesemia 2, renal, 154020 (3), Autosomal dominant
chr11 117836975 117877485 Chr.11 11q23.3 606683 FXYD6 FXYD domain-containing ion transport regulator 6 FXYD6 53826 ENSG00000137726 Fxyd6 (MGI:1890226)
chr11 117900640 117929452 11q23 11q23.3 610050 TMPRSS13, MSPL, MSPS Transmembrane protein, serine 13 TMPRSS13 84000 ENSG00000137747 Tmprss13 (MGI:2682935)
chr11 117986390 118001482 11q23.3 11q23.3 146933 IL10RA, IL10R, IBD28 Interleukin-10 receptor, alpha IL10RA 3587 ENSG00000110324 Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3), Autosomal recessive Il10ra (MGI:96538)
chr11 118077011 118125504 11q23.3 11q23.3 606565 TMPRSS4 Transmembrane protease, serine 4 TMPRSS4 56649 ENSG00000137648 Tmprss4 (MGI:2384877)
chr11 118133376 118152914 11q23 11q23.3 608256 SCN4B, LQT10, ATFB17 Sodium channel, voltage-gated, type IV, beta subunit SCN4B 6330 ENSG00000177098 Atrial fibrillation, familial, 17, 611819 (3), Autosomal dominant; Long QT syndrome-10, 611819 (3), Autosomal dominant Scn4b (MGI:2687406)
chr11 118162803 118176621 11q23 11q23.3 601327 SCN2B, ATFB14 Sodium channel, voltage-gated, type II, beta polypeptide SCN2B 6327 ENSG00000149575 Atrial fibrillation, familial, 14, 615378 (3), Autosomal dominant Scn2b (MGI:106921)
chr11 118193726 118225093 11q23 11q23.3 609770 AMICA1, JAML Adhesion molecule, interacts with CXADR antigen 1 JAML 120425 ENSG00000160593 Jaml (MGI:2685484)
chr11 118226689 118252367 11q23.3 11q23.3 611707 MPZL3 Myelin protein zero-like 3 MPZL3 196264 ENSG00000160588 Mpzl3 (MGI:2442647)
chr11 118253415 118264535 11q24 11q23.3 604873 MPZL2, EVA1, EVA Myelin protein zero-like 2 MPZL2 10205 ENSG00000149573 Mpzl2 (MGI:1289160)
chr11 118304579 118316174 11q23 11q23.3 186830 CD3E, IMD18 CD3E antigen, epsilon polypeptide (TiT3 complex) CD3E 916 ENSG00000198851 Immunodeficiency 18, 615615 (3), Autosomal recessive; Immunodeficiency 18, SCID variant, 615615 (3), Autosomal recessive Cd3e (MGI:88332)
chr11 118339073 118342743 11q23 11q23.3 186790 CD3D, T3D, IMD19 CD3D antigen, delta polypeptide (TiT3 complex) CD3D 915 ENSG00000167286 3 CD3 genes in 50kb Immunodeficiency 19, 615617 (3), Autosomal recessive Cd3d (MGI:88331)
chr11 118344343 118353781 11q23 11q23.3 186740 CD3G, IMD17 CD3G antigen, gamma polypeptide (TiT3 complex) CD3G 917 ENSG00000160654 Immunodeficiency 17, CD3 gamma deficient, 615607 (3), Autosomal recessive Cd3g (MGI:88333)
chr11 118359580 118399210 Chr.11 11q23.3 603753 UBE4A, UFD2, E4 Ubiquitination factor E4A UBE4A 9354 ENSG00000110344 Ube4a (MGI:2154580)
chr11 118401388 118409846 11q22.3 11q23.3 617473 ATP5JG ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G ATP5MG 10632 ENSG00000167283 Atp5l (MGI:1351597)
chr11 118436489 118526831 11q23 11q23.3 159555 KMT2A, MLL, HRX, HTRX1, WDSTS Lysine (K)-specific methyltransferase 2E KMT2A 4297 ENSG00000118058 fuses with ENL, AF4, AF9, GMPS Leukemia, myeloid/lymphoid or mixed-lineage, 159555 (2), Autosomal dominant; Wiedemann-Steiner syndrome, 605130 (3), Autosomal dominant Kmt2a (MGI:96995)
chr11 118531087 118546597 11q23.3 11q23.3 613934 TMEM25 Transmembrane protein 25 TMEM25 84866 ENSG00000149582 Tmem25 (MGI:1918937)
chr11 118572386 118603032 11q23.3 11q23.3 600820 ARCN1, SRMMD Archain 1 ARCN1 372 ENSG00000095139 60kb telomeric to MLL Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3), Autosomal dominant Arcn1 (MGI:2387591)
chr11 118606295 118658037 11q23.3 11q23.3 612834 PHLDB1, LL5A, KIAA0638 Pleckstrin homology-like domain, family B, member 1 PHLDB1 23187 ENSG00000019144 Phldb1 (MGI:2143230)
chr11 118658231 118679671 11q23 11q23.3 275360 TREH, TREHD Trehalase TREH 11181 ENSG00000118094 Trehalase deficiency, 612119 (3), Autosomal recessive Treh (MGI:1926230)
chr11 118747762 118791695 11q23.3 11q23.3 600326 DDX6, HLR2 DEAD/H box-6 (RNA helicase, 54kD) DDX6 1656 ENSG00000110367 Ddx6 (MGI:104976)
chr11 118883765 118896270 11q23.3 11q23.3 601613 CXCR5, BLR1 Chemokine, CXC motif, receptor 5 CXCR5 643 ENSG00000160683 Cxcr5 (MGI:103567)
chr11 118896139 118926071 11q23.3 11q23.3 609004 BCL9L B-cell CLL/lymphoma 9-like BCL9L 283149 ENSG00000186174 Bcl9l (MGI:1933114)
chr11 118956297 118958558 11q23.3 11q23.3 611558 UPK2, UP2, UPII Uroplakin 2 UPK2 7379 ENSG00000110375 Upk2 (MGI:98913)
chr11 118971397 118981600 11q23.3 11q23.3 615755 FOXR1, FOXN5 Forkhead box R1 FOXR1 283150 ENSG00000176302 Foxr1 (MGI:2685961)
chr11 119015711 119018346 11q23.3 11q23.3 180465 RPS25 Ribosomal protein S25 RPS25 6230 ENSG00000118181 Rps25 (MGI:1922867)
chr11 119018468 119023673 11q23.3 11q23.3 610971 TRAPPC4 Trafficking protein particle complex, subunit 4 (synbindin) TRAPPC4 51399 ENSG00000196655 Trappc4 (MGI:1926211)
chr11 119024350 119030905 11q23 11q23.3 602671 SLC37A4, G6PT1 Solute carrier family 37 (glucose-6-phosphate transporter), member 4 SLC37A4 2542 ENSG00000137700 Glycogen storage disease Ib, 232220 (3), Autosomal recessive; Glycogen storage disease Ic, 232240 (3), Autosomal recessive Slc37a4 (MGI:1316650)
chr11 119044184 119057245 Chr.11 11q23.3 601746 HYOU1 Hypoxia-upregulated 1 HYOU1 10525 ENSG00000149428 Hyou1 (MGI:108030)
chr11 119067751 119081977 11q23.3 11q23.3 608549 VPS11, HLD12 Vacuolar protein sorting 11, yeast, homolog of VPS11 55823 ENSG00000160695 Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive Vps11 (MGI:1918982)
chr11 119084863 119093548 11q23.3 11q23.3 609806 HMBS, PBGD, UPS Hydroxymethylbilane synthase HMBS 3145 ENSG00000256269 Porphyria, acute intermittent, 176000 (3), Autosomal dominant; Porphyria, acute intermittent, nonerythroid variant, 176000 (3), Autosomal dominant Hmbs (MGI:96112)
chr11 119093873 119095466 11q23.2-q23.3 11q23.3 601772 H2AX H2AX histone H2AFX 3014 ENSG00000188486 H2afx (MGI:102688)
chr11 119096502 119102074 11q23.3 11q23.3 191350 DPAGT1, DPAGT2, DGPT, CDG1J, CMSTA2, CMS13 Dolichyl-phosphate N-acetylglucosamine phosphotransferase DPAGT1 1798 ENSG00000172269 Congenital disorder of glycosylation, type Ij, 608093 (3), Autosomal recessive; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3), Autosomal recessive Dpagt1 (MGI:1196396)
chr11 119106751 119118346 11q23.3 11q23.3 617582 C2CD2L, TMEM24 C2 calcium-dependent domain-containing protein 2-like C2CD2L 9854 ENSG00000172375 C2cd2l (MGI:1919014)
chr11 119121522 119135054 Chr.11 11q23.3 607099 MIZF MBD2-interaction zinc finger protein HINFP 25988 ENSG00000172273 Hinfp (MGI:2429620)
chr11 119149039 119162665 11q23.3 11q23.3 607784 ABCG4, WHITE2 ATP-binding cassette, subfamily G, member 4 ABCG4 64137 ENSG00000172350 Abcg4 (MGI:1890594)
chr11 119168333 119184015 11q23.3 11q23.3 611947 NLRX1, NOD9, CLR11.3 NLR family member X1 NLRX1 79671 ENSG00000160703 Nlrx1 (MGI:2429611)
chr11 119185456 119190222 11q23 11q23.3 607146 PDZD3, IKEPP PDZ domain-containing 3 PDZD3 79849 ENSG00000172367 Pdzd3 (MGI:2429554)
chr11 119206275 119308148 11q23.3 11q23.3 165360 CBL, CBL2, NSLL Cas-Br-M ecotropic retroviral transforming sequence (Oncogene CBL2) CBL 867 ENSG00000110395 mutation identified in 1 JMML family ?Juvenile myelomonocytic leukemia, 607785 (3), Autosomal dominant, Somatic mutation; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3), Autosomal dominant Cbl (MGI:88279)
chr11 119305758 119317129 11q23.3 11q23.3 155735 MCAM, MUC18, CD146 Melanoma adhesion molecule MCAM 4162 ENSG00000076706 Mcam (MGI:1933966)
chr11 119334499 119337313 11q23 11q23.3 606130 RNF26 RING finger protein-26 RNF26 79102 ENSG00000173456 Rnf26 (MGI:2388131)
chr11 119338933 119346672 11q23.3 11q23.3 608752 C1QTNF5, CTRP5, LORD C1q- and tumor necrosis factor-related protein 5 C1QTNF5 114902 ENSG00000223953 Retinal degeneration, late-onset, autosomal dominant, 605670 (3), Autosomal dominant C1qtnf5 (MGI:2385958)
chr11 119338933 119346672 11q23 11q23.3 606227 MFRP, MCOP5, NNO2 Membrane-type frizzled-related protein MFRP 83552 ENSG00000235718 Microphthalmia, isolated 5, 611040 (3), Autosomal recessive; Nanophthalmos 2, 609549 (3) Mfrp (MGI:2385957)
chr11 119417940 119424984 11q23.3 11q23.3 188230 THY1 Thy-1 T-cell antigen THY1 7070 ENSG00000154096 Thy1 (MGI:98747)
chr11 119638097 119728724 11q23-q24 11q23.3 600644 NECTIN1, PVRL1, HVEC, PVRR1, PRR1, ED4, OFC7, CLPED1 Nectin 1 NECTIN1 5818 ENSG00000110400 Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3), Autosomal recessive; Orofacial cleft 7, 225060 (3), Autosomal recessive Nectin1 (MGI:1926483)
chr11 120111274 120138154 11q23.3 11q23.3 610658 TRIM29, ATDC Tripartite motif-containing protein 29 TRIM29 23650 ENSG00000137699 Trim29 (MGI:1919419)
chr11 120236639 120319943 11q23.3 11q23.3 607394 POU2F3, OCT11 POU domain, class 2, transcription factor 3 POU2F3 25833 ENSG00000137709 Pou2f3 (MGI:102565)
chr11 120336275 120489935 11q23.3 11q23.3 604763 ARHGEF12, LARG, KIAA0382 Rho guanine nucleotide exchange factor 12, leukemia-associated ARHGEF12 23365 ENSG00000196914 fused with MLL in AML Arhgef12 (MGI:1916882)
chr11 120511745 120988804 11q22.3 11q23.3 600282 GRIK4 Glutamate receptor, ionotropic, kainate 4 GRIK4 2900 ENSG00000149403 Grik4 (MGI:95817)
chr11 121024071 121090775 11q23.3 11q23.3 610451 LRRC35, EL Leucine-rich repeat-containing protein 35 TBCEL 219899 ENSG00000154114 Tbcel (MGI:1925543)
chr11 121102665 121190805 11q22-q24 11q23.3 602574 TECTA, DFNA8, DFNA12, DFNB21 Tectorin, alpha TECTA 7007 ENSG00000109927 Deafness, autosomal dominant 8/12, 601543 (3), Autosomal dominant; Deafness, autosomal recessive 21, 603629 (3), Autosomal recessive Tecta (MGI:109575)
chr11 121292678 121313409 11q23.3 11q23.3-q24.1 602286 SC5DL, ERG3 Sterol C5-desaturase-like SC5D 6309 ENSG00000109929 Lathosterolosis, 607330 (3), Autosomal recessive Sc5d (MGI:1353611)
chr11 121300000 135086622 11q24-q25 612161 ANIB7 Aneurysm, intracranial berry, 7 100188885 between rs618176 and rs1940033 Aneurysm, intracranial berry, 7, 612161 (2)
chr11 121300000 124000000 11q24.1 612559 CLLS5 Leukemia, chronic lymphocytic susceptibility to, 5 100270644 associated with rs735665 {Leukemia, chronic lymphocytic susceptibility to, 5}, 612559 (2)
chr11 121300000 130900000 11q24 609670 MGR9 Migraine with aura, susceptibility to, 9 100415943 max lod at GATA64D03 {Migraine with aura, susceptibility to, 9}, 609670 (2)
chr11 121300000 130900000 11q24 609469 NEDE Nephropathy, progressive, with deafness 619410 max lod at D11S4464 Nephropathy, progressive, with deafness, 609469 (2)
chr11 121452202 121633761 11q23.2-q24.2 11q24.1 602005 SORL1, LR11, SORLA Sortilin-related receptor, L(DLR class) A repeats-containing SORL1 6653 ENSG00000137642 Sorl1 (MGI:1202296)
chr11 122028328 122422870 11q24.1 11q24.1 615965 MIR100HG, AGD1 MIR100-LET7A2 cluster host gene, noncoding MIR100HG 399959
chr11 122099756 122099843 11q24.1 11q24.1 610104 MIR125B1, MIRN125B1 Micro RNA 125B-1 MIR125B1 406911
chr11 122115353 122116214 11q24.1 11q24.1 608853 BLID, BRCC@ BH3-like motif-containing cell death inducer BLID 414899 ENSG00000259571 distal to SORL1
chr11 122146521 122146592 11q24.1 11q24.1 612142 MIRLET7A2, LET7A2, MIRNLET7A2 Micro RNA let7a2 MIRLET7A2 406882
chr11 122152228 122152307 11q24.1 11q24.1 613186 MIR100, MIRN100 Micro RNA 100 MIR100 406892
chr11 122655689 122814478 11q24.1 11q24.1 609201 UBASH3B, STS1, KIAA1959, P70 Ubiquitin-associated and SH3 domain-containing protein B UBASH3B 84959 ENSG00000154127 Ubash3b (MGI:1920078)
chr11 122838418 122872642 11q22-q23 11q24.1 612597 CRTAM Cytotoxic and regulatory T-cell molecule CRTAM 56253 ENSG00000109943 Crtam (MGI:1859822)
chr11 122881639 122963861 11q24.1 11q24.1 617594 C11orf63, JHY Chromosome 11 open reading frame 63 JHY 79864 ENSG00000109944 Jhy (MGI:1918239)
chr11 122977648 122981670 11q24.1 11q24.1 611074 BSX1 Brain-specific homeobox, mouse, homolog of BSX 390259 ENSG00000188909 Bsx (MGI:2669849)
chr11 123057491 123062365 11q23.3-q25 11q24.1 600816 HSPA8, HSP73 Heat-shock 70kD protein-8 (HSP73) HSPA8 3312 ENSG00000109971 Hspa8 (MGI:105384)
chr11 123072005 123195304 11q24.1 11q24.1 611693 CLMP, ASAM, ACAM, CSBS Coxsackievirus- and adenovirus receptor-like membrane protein CLMP 79827 ENSG00000166250 Congenital short bowel syndrome, 615237 (3), Autosomal recessive Clmp (MGI:1918816)
chr11 123629186 123654606 11q23.3 11q24.1 608214 SCN3B, SCNB3, BRGDA7, ATFB16 Sodium channel, voltage-gated, type III, beta subunit SCN3B 55800 ENSG00000166257 Atrial fibrillation, familial, 16, 613120 (3), Autosomal dominant; Brugada syndrome 7, 613120 (3), Autosomal dominant Scn3b (MGI:1918882)
chr11 123723926 123741682 11q23.3 11q24.1 603430 ZNF202 Zinc finger protein-202 ZNF202 7753 ENSG00000166261 Zfp202 (MGI:1933401)
chr11 124115403 124146911 11q23 11q24.2 602929 VWA5A, LOH11CR2A, BCSC1 von Willebrand factor A domain-containing protein 5A VWA5A 4013 ENSG00000110002 Vwa5a (MGI:1915026)
chr11 124611556 124620355 11q24.2 11q24.2 608422 PANX3, PX3 Pannexin 3 PANX3 116337 ENSG00000154143 Panx3 (MGI:1918881)
chr11 124622845 124635925 11q24.2 11q24.2 610614 TBRG1, NIAM Transforming growth factor-beta regulator 1 TBRG1 84897 ENSG00000154144 Tbrg1 (MGI:1100877)
chr11 124635788 124676302 11q24 11q24.2 610079 SIAE, AIS6 Sialic acid acetylesterase SIAE 54414 ENSG00000110013 {Autoimmune disease, susceptibility to, 6}, 613551 (3) Siae (MGI:104803)
chr11 124739932 124747205 11q24 11q24.2 602350 NRGN Neurogranin NRGN 4900 ENSG00000154146
chr11 124747471 124752271 11q24 11q24.2 606011 VSIG2, CTXL V-set and immunoglobulin domains-containing protein 2 VSIG2 23584 ENSG00000019102 Vsig2 (MGI:1928009)
chr11 124753122 124762326 11q24.2 11q24.2 614281 ESAM Endothelial cell adhesion molecule ESAM 90952 ENSG00000149564 Esam (MGI:1916774)
chr11 124865408 124881473 11q23-q25 11q24.2 608630 ROBO3, RBIG1, RIG1, HGPPS1 Roundabout, Drosophila, homolog of, 3 ROBO3 64221 ENSG00000154134 Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3), Autosomal recessive Robo3 (MGI:1343102)
chr11 124884217 124897934 11q24.2 11q24.2 607528 ROBO4 Roundabout, Drosophila, homolog of, 4 ROBO4 54538 ENSG00000154133 Robo4 (MGI:1921394)
chr11 124919243 124936411 11q24 11q24.2 611642 HEPACAM, MLC2A, MLC2B Hepatocyte cell adhesion molecule HEPACAM 220296 ENSG00000165478 Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3), Autosomal recessive; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3), Autosomal dominant Hepacam (MGI:1920177)
chr11 124919249 124920676 11q24.2 11q24.2 611641 HEPN1 Cancer susceptibility gene HEPN1 HEPN1 641654 ENSG00000221932
chr11 125111996 125433388 11q24-q25 11q24.2 613066 PKNOX2, PREP2 PBX/Knotted 1 homeobox 2 PKNOX2 63876 ENSG00000165495 Pknox2 (MGI:2445415)
chr11 125445744 125496309 11q24.2 11q24.2 604825 FEZ1 Fasciculation and elongation protein zeta 1 FEZ1 9638 ENSG00000149557 Fez1 (MGI:2670976)
chr11 125569215 125584688 11q23 11q24.2 605170 EI24, PIG8, EPG4 Etoposide-induced 1.4 mRNA EI24 9538 ENSG00000149547 Ei24 (MGI:108090)
chr11 125592794 125622758 11q23.3 11q24.2 601134 STT3A, ITM1, TMC STT3A, subunit of the oligosaccharyltransferase complex (catalytic) STT3A 3703 ENSG00000134910 mutation identified in 1 family ?Congenital disorder of glycosylation, type Iw, 615596 (3), Autosomal recessive Stt3a (MGI:105124)
chr11 125624909 125676255 11q22-q23 11q24.2 603078 CHEK1, CHK1 Checkpoint kinase 1, S. pombe, homolog of CHEK1 1111 ENSG00000149554 Chek1 (MGI:1202065)
chr11 125672333 125680897 11p12-q13 11q24.2 102525 ACRV1 Acrosomal vesicle protein-1 ACRV1 56 ENSG00000134940 Acrv1 (MGI:104590)
chr11 125746292 125749847 11q24 11q24.2 606861 PATE Prostate- and testis-expressed gene PATE1 160065 ENSG00000171053 Pate1 (MGI:4936886)
chr11 125883613 125900645 11q24.2 11q24.2 610693 HYLS1, FLJ32915 HYLS1 gene HYLS1 219844 ENSG00000198331 Hydrolethalus syndrome, 236680 (3), Autosomal recessive Hyls1 (MGI:1924082)
chr11 125893484 125903277 11q24.2 11q24.2 616283 PUS3, MRT55 Pseudouridylate synthase 3 PUS3 83480 ENSG00000110060 mutation identified in 1 MRT55 family ?Mental retardation, autosomal recessive 55, 617051 (3), Autosomal recessive Pus3 (MGI:1914299)
chr11 125903375 125923403 11q24 11q24.2 607663 GRTH Gonadotropin-regulated testicular RNA helicase DDX25 29118 ENSG00000109832 Ddx25 (MGI:1353582)
chr11 125956812 126063334 11q24.2 11q24.2 608707 CDON, CDO, HPE11 Cell adhesion molecule-related/downregulated by oncogenes CDON 50937 ENSG00000064309 Holoprosencephaly 11, 614226 (3), Autosomal dominant, Isolated cases Cdon (MGI:1926387)
chr11 126202093 126211691 11q24.2 11q24.2 617488 RPUSD4 RNA pseudouridylate synthase domain-containing protein 4 RPUSD4 84881 ENSG00000165526 Rpusd4 (MGI:1919239)
chr11 126211413 126264539 11q24.2 11q24.2 616587 FAM118B Family with sequence similarity 118, member B FAM118B 79607 ENSG00000197798 Fam118b (MGI:1924483)
chr11 126255150 126268981 11q23-q24 11q24.2 182180 SRPRA, SRPR, DP Signal recognition particle receptor, alpha subunit SRPRA 6734 ENSG00000182934 Srpr (MGI:1914648)
chr11 126269039 126278131 11q24.2 11q24.2 613622 FOXRED1 FAD-dependent oxidoreductase domain-containing protein 1 FOXRED1 55572 ENSG00000110074 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Foxred1 (MGI:2446262)
chr11 126283086 126294932 11q23-q24 11q24.2 606252 TIRAP, BACTS1 TIR domain-containing adaptor protein TIRAP 114609 ENSG00000150455 {Bacteremia, protection against}, 614382 (3); {Malaria, protection against}, 611162 (3); {Pneumococcal disease, invasive, protection against}, 610799 (3); {Tuberculosis, protection against}, 607948 (3) Tirap (MGI:2152213)
chr11 126303751 126350004 11q24.2 11q24.2 610534 DCPS, HINT5, DCS1, ARS Decapping enzyme, scavenger DCPS 28960 ENSG00000110063 Al-Raqad syndrome, 616459 (3), Autosomal recessive Dcps (MGI:1916555)
chr11 126355644 126414640 11q24.2 11q24.2 104240 ST3GAL4, SIAT4C, SIAT4, CGS23, NANTA3 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ST3GAL4 6484 ENSG00000110080 St3gal4 (MGI:1316743)
chr11 126423492 127003459 11q24.2 11q24.2 607761 KIRREL3, NEPH2, KIAA1867, KIRRE, MRD4 Kin of IRRE-like 3 KIRREL3 84623 ENSG00000149571 Mental retardation, autosomal dominant 4, 612581 (3) Kirrel3 (MGI:1914953)
chr11 128458760 128587592 11q23.3 11q24.3 164720 ETS1 Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1 ETS1 2113 ENSG00000134954 shown by HSR; 19cM distal to THY1; Ewing sarcoma breakpoint region-2 splices to EWSR1 Ets1 (MGI:95455)
chr11 128685262 128813266 11q24 11q24.3 193067 FLI1, BDPLT21 Friend leukemia virus integration 1 FLI1 2313 ENSG00000151702 fused with EWS in Ewing sarcoma Bleeding disorder, platelet-type, 21, 617443 (3), Autosomal recessive, Autosomal dominant Fli1 (MGI:95554)
chr11 128691671 128696022 11q24.1 11q24.3 615815 SENCR, lncRNA9 Smooth muscle- and endothelial cell-enriched migration/differentiation-associated long noncoding RNA SENCR 100507392
chr11 128838013 128867372 11q24 11q24.3 600359 KCNJ1, ROMK1 Potassium inwardly-rectifying channel, subfamily J, member 1 KCNJ1 3758 ENSG00000151704 Bartter syndrome, type 2, 241200 (3), Autosomal recessive Kcnj1 (MGI:1927248)
chr11 128891331 128921162 11q24 11q24.3 600734 KCNJ5, GIRK4, KATP1, LQT13 Potassium inwardly-rectifying channel, subfamily J, member 5 KCNJ5 3762 ENSG00000120457 Hyperaldosteronism, familial, type III, 613677 (3), Autosomal dominant; Long QT syndrome 13, 613485 (3), Autosomal dominant Kcnj5 (MGI:104755)
chr11 128934731 128944232 11q24 11q24.3 605426 TP53AIP1, P53AIP1 Tumor protein p53-regulated apoptosis-inducing protein 1 TP53AIP1 63970 ENSG00000120471
chr11 128965059 129279166 11q24.3 11q24.3 608541 ARHGAP32, RICS, GRIT, p200RHOGAP, p250GAP Rho GTPase activating protein 32 ARHGAP32 9743 ENSG00000134909 Arhgap32 (MGI:2450166)
chr11 129295202 129296614 11q23.1-q23.2 11q24.3 194630 ZNF123 Zinc finger protein-123 (HZF-1) ZNF123P 100188891
chr11 129375236 129452278 11q25 11q24.3 604823 BARX2 BarH-like homeo box gene 2 BARX2 8538 ENSG00000043039 Barx2 (MGI:109617)
chr11 129863772 129895595 11q24-q25 11q24.3 164013 NFRKB Nuclear factor related to kappa B-binding protein NFRKB 4798 ENSG00000170322 most telomeric 11q marker Nfrkb (MGI:2442410)
chr11 130069820 130144810 11q24 11q24.3 104776 APLP2 Amyloid beta (A4) precursor-like protein-2 APLP2 334 ENSG00000084234 Aplp2 (MGI:88047)
chr11 130159786 130210361 11q24-q25 11q24.3 606797 ST14, MTSP1, ARCI11 Suppression of tumorigenicity 14 ST14 6768 ENSG00000149418 Ichthyosis, congenital, autosomal recessive 11, 602400 (3), Autosomal recessive St14 (MGI:1338881)
chr11 130404922 130428992 11q25 11q24.3 605175 ADAMTS8, METH2 A disintegrin-like and metalloproteinase with thrombospondin type-1 motif, 8 ADAMTS8 11095 ENSG00000134917 Adamts8 (MGI:1353468)
chr11 130448875 130478214 11q24.3 11q24.3 607509 ADAMTS15 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 15 ADAMTS15 170689 ENSG00000166106 Adamts15 (MGI:2449569)
chr11 130900000 135086622 11q25-qter 604060 DFNB20 Deafness, autosomal recessive 20 DFNB20 1713 Deafness, autosomal recessive 20, 604060 (2), Autosomal recessive
chr11 130900000 135086622 11q25 602782 HJCD, HCLAP Histiocytosis with joint contractures and sensorineural deafness Histiocytosis-lymphadenopathy plus syndrome, 602782 (3), Autosomal recessive
chr11 131370307 132336821 11q25 11q25 607938 NTM, HNT Neurotrimin NTM 50863 ENSG00000182667 Ntm (MGI:2446259)
chr11 132403360 133532611 11q25 11q25 600632 OPCML Opioid-binding protein/cell adhesion molecule-like OPCML 4978 ENSG00000183715 {Ovarian cancer, somatic}, 167000 (3) Opcml (MGI:97397)
chr11 133835929 133845537 11q25 11q25 609805 SPATA19 Spermatogenesis-associated protein 19 SPATA19 219938 ENSG00000166118 Spata19 (MGI:1922719)
chr11 133908563 133956959 11q25 11q25 613773 IGSF9B, KIAA1030 Immunoglobulin superfamily, member 9B IGSF9B 22997 ENSG00000080854 Igsf9b (MGI:2685354)
chr11 134068924 134151756 11q25 11q25 606871 JAM3 Junctional adhesion molecule 3 JAM3 83700 ENSG00000166086 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3), Autosomal recessive Jam3 (MGI:1933825)
chr11 134152441 134225453 11q25 11q25 609276 NCAPD3, CAPD3, KIAA0056 Non-SMC condensin II complex subunit D3 NCAPD3 23310 ENSG00000151503 Ncapd3 (MGI:2142989)
chr11 134224604 134247791 11q25 11q25 610027 VPS26B Vacuolar protein sorting 26, yeast, homolog of, B VPS26B 112936 ENSG00000151502 Vps26b (MGI:1917656)
chr11 134248264 134253406 11q25 11q25 613739 THYN1, HSPC144, THY28 Thymocyte nuclear protein 1 THYN1 29087 ENSG00000151500 Thyn1 (MGI:1925112)
chr11 134253537 134265857 11q25 11q25 604773 ACAD8 Acyl-CoA dehydrogenase family, member 8 ACAD8 27034 ENSG00000151498 Isobutyryl-CoA dehydrogenase deficiency, 611283 (3) Acad8 (MGI:1914198)
chr11 134378503 134411985 11q25 11q25 151290 B3GAT1, GLCATP, CD57, HNK1 Beta-1,3-glucuronyltransferase 1 B3GAT1 27087 ENSG00000109956 B3gat1 (MGI:1924148)
chr11 0 135086622 Chr.11 606049 AOCH Acromegaloid features, overgrowth, cleft palate, and hernia 93956 pericentric inversion (46,XY,inv(11)(p15.3;q23.3)) Acromegaloid features, overgrowth, cleft palate, and hernia, 606049 (2)
chr12 0 35500000 12p 107920 KAR Aromatic alpha-keto acid reductase ?same as MDH1
chr12 0 10000000 12p13.3 612372 MAFD9 Major affective disorder 9 100196917 associated with rs1006737 {Major affective disorder-9, susceptibility to}, 612372 (2)
chr12 0 35500000 12p 601803 PKS Pallister-Killian syndrome Pallister-Killian syndrome, 601803 (4), Somatic mosaicism
chr12 66793 178459 12p13.33 12p13.33 612118 IQSEC3, KIAA1110 IQ motif- and SEC7 domain-containing protein 3 IQSEC3 440073 ENSG00000120645 Iqsec3 (MGI:2677208)
chr12 190076 214204 12p13 12p13.33 603080 SLC6A12 Solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 SLC6A12 6539 ENSG00000111181 Slc6a12 (MGI:95628)
chr12 220620 262929 12p13.3 12p13.33 615097 SLC6A13, GAT2, GAT3 Solute carrier family 6 (neurotransmitter transporter, GABA), member 13 SLC6A13 6540 ENSG00000010379 Slc6a13 (MGI:95629)
chr12 280056 389454 12p11 12p13.33 180202 KDM5A, JARID1A, RBP2, RBBP2 Lysine(K)-specific demethylase 5A KDM5A 5927 ENSG00000073614 Kdm5a (MGI:2136980)
chr12 460376 561891 12p13.3 12p13.33 612220 B4GALNT3 Beta-1,4-N-acetylgalactosaminyltransferase 3 B4GALNT3 283358 ENSG00000139044 B4galnt3 (MGI:3041155)
chr12 564295 663740 12p13 12p13.33 607297 NINJ2 Nerve injury-induced protein 2 NINJ2 4815 ENSG00000171840 Ninj2 (MGI:1352751)
chr12 752592 911451 12p13 12p13.33 605232 WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2 WNK lysine deficient protein kinase 1 WNK1 65125 ENSG00000060237 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3), Autosomal recessive; Pseudohypoaldosteronism, type IIC, 614492 (3), Autosomal dominant Wnk1 (MGI:2442092)
chr12 911027 991194 12p13-p12.2 12p13.33 600392 RAD52 RAD52, yeast, homolog of RAD52 5893 ENSG00000002016 Rad52 (MGI:101949)
chr12 1529855 1647212 12p13.3 12p13.33 606361 WNT5B Wingless-type MMTV integration site family, member 5B WNT5B 81029 ENSG00000111186 Wnt5b (MGI:98959)
chr12 1559640 1594189 12p13.33 12p13.33 609081 FBXL14, FBL14 F-box and leucine-rich repeat protein 14 FBXL14 144699 ENSG00000171823 Fbxl14 (MGI:2141676)
chr12 1691026 1788678 12p13.31 12p13.33 607946 ADIPOR2, FLJ21432 Adiponectin receptor 2 ADIPOR2 79602 ENSG00000006831 Adipor2 (MGI:93830)
chr12 1791956 1922605 12p13.3 12p13.33 608171 CACNA2D4, RCD4 Calcium channel, voltage-dependent, alpha-2/delta subunit 4 CACNA2D4 93589 ENSG00000151062 Retinal cone dystrophy 4, 610478 (3), Autosomal recessive Cacna2d4 (MGI:2442632)
chr12 1941590 2004534 12p13.33 12p13.33 609843 DCP1B, DCP1 Decapping enzyme 1, S. cerevisiae, homolog of DCP1B 196513 ENSG00000151065 Dcp1b (MGI:2442404)
chr12 1969551 2697948 12p13.3 12p13.33 114205 CACNA1C, CACNL1A1, CCHL1A1, TS Calcium channel, voltage-dependent, L type, alpha 1C subunit CACNA1C 775 ENSG00000151067 Brugada syndrome 3, 611875 (3); Timothy syndrome, 601005 (3), Autosomal dominant Cacna1c (MGI:103013)
chr12 2794941 2805422 12p13.33 12p13.33 600611 FKBP4, FKBP52 FK506-binding protein 4 FKBP4 2288 ENSG00000004478 Fkbp4 (MGI:95543)
chr12 2812620 2859906 12p13.33 12p13.33 617421 ITFG2, FGGAP1 Integrin-alpha FG-GAP repeat-containing protein 2 ITFG2 55846 ENSG00000111203 Itfg2 (MGI:1915450)
chr12 2857679 2877154 12p13 12p13.33 602341 FOXM1, FKHL16, HFH11 Forkhead box M1 FOXM1 2305 ENSG00000111206 Foxm1 (MGI:1347487)
chr12 2876257 2889524 12p13.33 12p13.33 614085 RHNO1, RHINO, C12orf32 Rad9-, Rad1-, and Hus1-interacting nuclear orphan 1 RHNO1 83695 ENSG00000171792
chr12 2890866 2941139 12p13 12p13.33 604730 TULP3 Tubby-like protein 3 TULP3 7289 ENSG00000078246 Tulp3 (MGI:1329045)
chr12 2959311 3040675 12p13.3-p13.2 12p13.33 601714 TEAD4, TCF13L1, RTEF1 TEA domain family, member 4 TEAD4 7004 ENSG00000197905 Tead4 (MGI:106907)
chr12 3077354 3286563 12p13.32 12p13.33-p13.32 613137 TSPAN9, NET5 Tetraspanin 9 TSPAN9 10867 ENSG00000011105 Tspan9 (MGI:1924558)
chr12 3381348 3593972 12p13.3 12p13.32 610086 PRMT8, HRMT1L3, HRMT1L4 Protein arginine methyltransferase 8 PRMT8 56341 ENSG00000111218 Prmt8 (MGI:3043083)
chr12 3613365 3753217 12p13.32 12p13.32 614178 EFCAB4B, CRACR2A EF-hand calcium-binding domain-containing protein 4B CRACR2A 84766 ENSG00000130038 Cracr2a (MGI:2685919)
chr12 3808860 3873470 12p13.3 12p13.32 616706 PARP11, ARTD11 Poly(ADP-ribose) polymerase family, member 11 PARP11 57097 ENSG00000111224 Parp11 (MGI:2141505)
chr12 4273735 4305355 12p13 12p13.32 123833 CCND2, MPPH3 Cyclin D2 CCND2 894 ENSG00000118971 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3), Autosomal dominant Ccnd2 (MGI:88314)
chr12 4321192 4360027 12p13.3 12p13.32 610775 TIGAR, C12orf5 TP53-induced glycolysis and apoptosis regulator TIGAR 57103 ENSG00000078237 Tigar (MGI:2442752)
chr12 4368226 4379727 12p13.3 12p13.32 605380 FGF23, ADHR, HPDR2, PHPTC Fibroblast growth factor 23 FGF23 8074 ENSG00000118972 Hypophosphatemic rickets, autosomal dominant, 193100 (3), Autosomal dominant; Osteomalacia, tumor-induced (1); Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3), Autosomal recessive Fgf23 (MGI:1891427)
chr12 4434141 4445798 12p13 12p13.32 134921 FGF6 Fibroblast growth factor-6 FGF6 2251 ENSG00000111241 Fgf6 (MGI:95520)
chr12 4487729 4538507 12p13.3 12p13.32 616082 C12orf4 Chromosome 12 open reading frame 4 C12orf4 57102 ENSG00000047621 D6Wsu163e (MGI:107893)
chr12 4538783 4560046 12p13.2-p13.1 12p13.32 603070 RAD51AP1, PIR51 Rad51-associated protein 1 RAD51AP1 10635 ENSG00000111247 Rad51ap1 (MGI:1098224)
chr12 4590071 4613887 12p13.32 12p13.32 609181 DYRK4 Dual-specificity tyrosine phosphorylation-regulated kinase 4 DYRK4 8798 ENSG00000010219 Dyrk4 (MGI:1330292)
chr12 4649097 4687553 12p 12p13.32 603834 NDUFA9 NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 9 NDUFA9 4704 ENSG00000139180 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial Ndufa9 (MGI:1913358)
chr12 4720585 4772725 12p13.3 12p13.32 606250 GALNT8 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 GALNT8 26290 ENSG00000130035
chr12 4806876 4851926 12p13 12p13.32 176257 KCNA6 Potassium voltage-gated channel, shaker-related subfamily, member 6 KCNA6 3742 ENSG00000130035 Kcna6 (MGI:96663)
chr12 4909906 4918255 12p13 12p13.32 176260 KCNA1, AEMK, EA1 Potassium voltage-gated channel, shaker-related subfamily, member 1 KCNA1 3736 ENSG00000111262 close to VWF Episodic ataxia/myokymia syndrome, 160120 (3), Autosomal dominant Kcna1 (MGI:96654)
chr12 5043918 5046787 12p13 12p13.32 176267 KCNA5, ATFB7 Potassium voltage-gated channel, shaker-related subfamily, member 5 KCNA5 3741 ENSG00000130037 Atrial fibrillation, familial, 7, 612240 (3), Autosomal dominant Kcna5 (MGI:96662)
chr12 5432113 5495298 12p13 12p13.31 162660 NTF3 Neurotrophin-3 NTF3 4908 ENSG00000185652 Ntf3 (MGI:97380)
chr12 5560240 5948789 12p13 12p13.31 610109 ANO2, TMEM16B, C12orf3 Anoctamin 2 ANO2 57101 ENSG00000047617 Ano2 (MGI:2387214)
chr12 5948873 6124674 12p13.3 12p13.31 613160 VWF, F8VWF Coagulation factor VIII VWF (von Willebrand factor) VWF 7450 ENSG00000110799 pseudogene on chr. 22 von Willebrand disease, type 1, 193400 (3), Autosomal dominant; von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3), Autosomal recessive, Autosomal dominant; von Willibrand disease, type 3, 277480 (3), Autosomal recessive Vwf (MGI:98941)
chr12 6199706 6238270 12p13 12p13.31 143030 CD9, MIC3 CD9 antigen (p24) CD9 928 ENSG00000010278 Cd9 (MGI:88348)
chr12 6310435 6328505 12p13.31 12p13.31 611743 PLEKHG6, MYOGEF Pleckstrin homology domain-containing protein, family G, member 6 PLEKHG6 55200 ENSG00000008323 Plekhg6 (MGI:2682298)
chr12 6328756 6342116 12p13.2 12p13.31 191190 TNFRSF1A, TNFR1, TNFAR, FPF, MS5 Tumor necrosis factor receptor superfamily, member 1A TNFRSF1A 7132 ENSG00000067182 {Multiple sclerosis, susceptibility to, 5}, 614810 (3); Periodic fever, familial, 142680 (3), Autosomal dominant Tnfrsf1a (MGI:1314884)
chr12 6346842 6377356 12p13 12p13.31 600228 SCNN1A, BESC2 Sodium channel, nonvoltage-gated 1, alpha SCNN1A 6337 ENSG00000111319 Bronchiectasis with or without elevated sweat chloride 2, 613021 (3), Autosomal dominant; Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive Scnn1a (MGI:101782)
chr12 6375367 6391570 12p13 12p13.31 600979 LTBR, TNFCR Lymphotoxin-beta receptor (tumor necrosis factor C receptor) LTBR 4055 ENSG00000111321 tightly linked to TNFR1 in mouse Ltbr (MGI:104875)
chr12 6444866 6451717 12p13 12p13.31 186711 CD27, TNFRSF7, S152. LPFS2 CD27 antigen CD27 939 ENSG00000139193 Lymphoproliferative syndrome 2, 615122 (3), Autosomal recessive Cd27 (MGI:88326)
chr12 6451655 6472005 12p13.3 12p13.31 607081 TAPBPR TAP-binding protein-related protein TAPBPL 55080 ENSG00000139192 Tapbpl (MGI:2384853)
chr12 6462236 6470898 12p13.31 12p13.31 185880 VAMP1, SYB1, SPAX1 Vesicle-associated membrane protein-1 (synaptobrevin-1) VAMP1 6843 ENSG00000139190 Spastic ataxia 1, autosomal dominant, 108600 (3), Autosomal dominant Vamp1 (MGI:1313276)
chr12 6492149 6493304 12p13.3-p13.1 12p13.31 611855 MRPL51, MRP64 Mitochondrial ribosomal protein L51 MRPL51 51258 ENSG00000111639 Mrpl51 (MGI:1913743)
chr12 6494131 6531965 12p13.31 12p13.31 615638 NCAPD2, CNAP1, KIAA0159 Non-SMC condensin I complex subunit D2 NCAPD2 9918 ENSG00000010292 Ncapd2 (MGI:1915548)
chr12 6510221 6510550 12p13.31 12p13.31 615639 SCARNA10 Small cajal body-specific RNA 10 SCARNA10 692148 in intron 4 of NCAPD2
chr12 6534516 6538374 12p13.31-p13.1 12p13.31 138400 GAPDH, GAPD Glyceraldehyde-3-phosphate dehydrogenase GAPDH 2597 ENSG00000111640 pseudogene on Xp21-q11 Gapdh,Gapdh-ps15 (MGI:5434255,MGI:95640)
chr12 6539527 6556096 12p13.31 12p13.31 610495 IFFO1 Intermediate filament family orphan 1 IFFO1 25900 ENSG00000010295 Iffo1 (MGI:2444516)
chr12 6556869 6568331 12p13 12p13.31 164031 NOL1 Nucleolar protein 1, 120kD NOP2 4839 ENSG00000111641 Nop2 (MGI:107891)
chr12 6570081 6607438 12p13 12p13.31 603277 CHD4, SIHIWES Chromodomain helicase DNA-binding protein-4 CHD4 1108 ENSG00000111642 Sifrim-Hitz-Weiss syndrome, 617159 (3), Autosomal dominant Chd4 (MGI:1344380)
chr12 6618834 6636130 12p13 12p13.31 606926 LPAR5, GPR92, GPR93, LPA5 Lysophosphatidic acid receptor 5 LPAR5 57121 ENSG00000184574 Lpar5 (MGI:2685918)
chr12 6650537 6663142 12p13.31 12p13.31 608524 ING4 Inhibitor of growth-4 ING4 51147 ENSG00000111653 Ing4 (MGI:107307)
chr12 6666476 6689571 12p12 12p13.31 609951 ZNF384, CIZ, CAGH1, NMP4 Zinc finger protein 384 ZNF384 171017 ENSG00000126746 Zfp384 (MGI:2443203)
chr12 6689704 6700842 12p13.31 12p13.31 616065 PIANP, PANP, LEDA1 PILR-alpha-associated neural protein PIANP 196500 ENSG00000139200 Pianp (MGI:2441908)
chr12 6723983 6731874 12p13.31 12p13.31 616009 COPS7A, CSN7 COP9 signalosome, subunit 7A COPS7A 50813 ENSG00000111652 Cops7a (MGI:1349400)
chr12 6747991 6753469 12p13 12p13.31 601401 MLF2 Myeloid leukemia factor-2 MLF2 8079 ENSG00000089693 Mlf2 (MGI:1353554)
chr12 6766316 6770951 12p13.31 12p13.31 168440 PTMS Parathymosin PTMS 5763 ENSG00000159335 previously assigned to 17q12-q22
chr12 6772482 6778454 12p13.32 12p13.31 153337 LAG3 Lymphocyte activation gene-3 LAG3 3902 ENSG00000089692 Lag3 (MGI:106588)
chr12 6789471 6820809 12p13.31 12p13.31 186940 CD4 CD4 antigen (p55) CD4 920 ENSG00000010610 CD = \'cluster of differentiation\' = nomenclature of leukocyte differentiation antigens OKT4 epitope deficiency, 613949 (3) Cd4 (MGI:88335)
chr12 6828372 6839853 12p13 12p13.31 610342 P3H3, LEPREL2 Prolyl 3-hydroxylase 3 P3H3 10536 ENSG00000110811 P3h3 (MGI:1315208)
chr12 6840853 6847394 12p13 12p13.31 139130 GNB3, CSNB1H Guanine nucleotide-binding protein, beta polypeptide-3 GNB3 2784 ENSG00000111664 {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial; Night blindness, congenital stationary, type 1H, 617024 (3), Autosomal recessive Gnb3 (MGI:95785)
chr12 6852120 6866631 12p13 12p13.31 601447 USP5, ISOT Ubiquitin-specific protease-5 (ubiquitin isopeptidase T) USP5 8078 ENSG00000111667 Usp5 (MGI:1347343)
chr12 6866833 6870945 12p13 12p13.31 190450 TPI1, TPID Triosephosphate isomerase-1 TPI1 7167 ENSG00000111669 Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3), Autosomal recessive Tpi1 (MGI:98797)
chr12 6870934 6873356 12p13.31 12p13.31 611658 SPSB2, SSB2 SPRY domain- and SOCS box-containing 2 SPSB2 84727 ENSG00000111671 Spsb2 (MGI:1315199)
chr12 6914449 6923695 12p13 12p13.31 131360 ENO2 Enolase-2, gamma, neuronal ENO2 2026 ENSG00000111674 Eno2 (MGI:95394)
chr12 6924462 6942320 12p13.31 12p13.31 607462 ATN1, DRPLA, HRS, NOD Atrophin 1 ATN1 1822 ENSG00000111676 Dentatorubro-pallidoluysian atrophy, 125370 (3), Autosomal dominant Atn1 (MGI:104725)
chr12 6943437 6946002 12p13 12p13.31 615140 C12orf57, C10, TEMTYS Chromosome 12 open reading frame 57 C12orf57 113246 ENSG00000111678 Temtamy syndrome, 218340 (3), Autosomal recessive Grcc10 (MGI:1315201)
chr12 6943815 6943877 12p13.31 12p13.31 617876 RNU7-1, RNU7 RNA, U7 small nuclear, 1 RNU7-1 100147744
chr12 6946576 6961315 12p13 12p13.31 176883 PTPN6 Protein tyrosine phosphatase, nonreceptor-type, 6 PTPN6 5777 ENSG00000111679 Ptpn6 (MGI:96055)
chr12 6963698 6963765 12p13.31 12p13.31 612092 MIR200C, MIRN200C Micro RNA 200C MIR200C 406985
chr12 6964096 6964190 12p13.31 12p13.31 612093 MIR141, MIRN141 Micro RNA 141 MIR141 406933
chr12 6965351 6970752 12p13 12p13.31 610704 PHB2, REA Prohibitin 2 PHB2 11331 ENSG00000215021 Phb2 (MGI:102520)
chr12 6967336 6967605 12p13.31 12p13.31 615642 SCARNA12 Small Cajal body-specific RNA 12 SCARNA12 677777
chr12 6970780 6997427 12p13 12p13.31 611531 EMG1, NEP1, C2F, BWCNS Essential for mitotic growth 1, S. cerevisiae, homolog of EMG1 10436 ENSG00000126749 Bowen-Conradi syndrome, 211180 (3), Autosomal recessive Emg1 (MGI:1315195)
chr12 6976184 7018537 12p13.31 12p13.31 611950 LPCAT3, MBOAT5, NESSY Lysophosphatidylcholine acyltransferase 3 LPCAT3 10162 ENSG00000111684 Lpcat3 (MGI:1315211)
chr12 7060660 7071031 12p13 12p13.31 120580 C1S, EDSPD2 Complement component-1, s subcomponent C1S 716 ENSG00000182326 C1s deficiency, 613783 (3); Ehlers-Danlos syndrome, periodontal type, 2, 617174 (3), Autosomal dominant C1s2,C1s1 (MGI:1355312,MGI:3644269)
chr12 7080208 7092606 12p13 12p13.31 613785 C1R, EDSPD1 Complement component-1, r subcomponent C1R 715 ENSG00000159403 Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3), Autosomal dominant C1rb,C1ra (MGI:3779804,MGI:1355313)
chr12 7094549 7109277 12p13.31 12p13.31 608974 C1RL, CLSPA, C1RLP Complement component C1r-like protein C1RL 51279 ENSG00000139178 C1rl (MGI:2660692)
chr12 7119105 7130271 12p13.31 12p13.31 611866 RBP5, CRBP3 Retinol-binding protein 5 RBP5 83758 ENSG00000139194
chr12 7130370 7158944 12p13 12p13.31 611324 CLSTN3, KIAA0726 Calsyntenin 3 CLSTN3 9746 ENSG00000139182 Clstn3 (MGI:2178323)
chr12 7188684 7218573 12p13.3 12p13.31 600414 PEX5, PXR1, PTS1R, PBD2A, PBD2B, RCDP5 Peroxisome biogenesis factor 5 PEX5 5830 ENSG00000139197 Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3), Autosomal recessive; Peroxisome biogenesis disorder 2B, 202370 (3), Autosomal recessive; Rhizomelic chondrodysplasia punctata, type 5, 616716 (3), Autosomal recessive Pex5 (MGI:1098808)
chr12 7304331 7328372 12p13.31 12p13.31 614360 ACSM4 Acyl-CoA synthetase medium-chain family, member 4 ACSM4 341392 ENSG00000215009 Acsm4 (MGI:2681844)
chr12 7320509 7444184 12p13.3 12p13.31 606079 CD164L1, CD163B, M160 CD164 antigen-like 1 CD163L1 283316 ENSG00000177675
chr12 7470810 7503817 12p13.3 12p13.31 605545 CD163 CD163 antigen (hemoglobin scavenger receptor) CD163 9332 ENSG00000177575 Cd163 (MGI:2135946)
chr12 7649399 7670598 12p13.1 12p13.31 600130 APOBEC1, BEDP Apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 APOBEC1 339 ENSG00000111701 Apobec1 (MGI:103298)
chr12 7689781 7695792 12p13.1 12p13.31 606522 GDF3, KFS3, MCOPCB6, MCOP7 Growth differentiation factor 3 GDF3 9573 ENSG00000184344 Klippel-Feil syndrome 3, autosomal dominant, 613702 (3); Microphthalmia with coloboma 6, 613703 (3), Autosomal dominant; Microphthalmia, isolated 7, 613704 (3), Autosomal dominant Gdf3 (MGI:95686)
chr12 7711453 7717558 12p13.31 12p13.31 608408 DPPA3 Developmental pluripotency-associated gene 3 DPPA3 359787 ENSG00000187569
chr12 7729244 7751599 12p13.2-p12.3 12p13.31 606677 CLEC4C, CLECSF11, DLEC, BDCA2 C-type lectin domain family 4, member C CLEC4C 170482 ENSG00000198178 Clec4b1 (MGI:1917060)
chr12 7789395 7796060 12p13.31 12p13.31 607937 NANOG Homeobox transcription factor NANOG NANOG 79923 ENSG00000111704 Nanog (MGI:1919200)
chr12 7812511 7891195 12p13.3 12p13.31 611039 SLC2A14, GLUT14 Solute carrier family 2 (facilitated glucose transporter), member 14 SLC2A14 144195 ENSG00000173262
chr12 7919227 7936295 12p13.3 12p13.31 138170 SLC2A3, GLUT3 Solute carrier family 2 (facilitated glucose transporter), member 3 SLC2A3 6515 ENSG00000059804 pseudogene SLC2A3P on 5q34 Slc2a3 (MGI:95757)
chr12 8056843 8066470 12p13.31 12p13.31 605246 C3AR1, C3AR Complement component 3a receptor 1 C3AR1 719 ENSG00000171860 C3ar1 (MGI:1097680)
chr12 8082210 8097776 12p13.31 12p13.31 611623 NECAP1, EIEE21 NECAP endocytosis-associated protein 1 NECAP1 25977 ENSG00000089818 mutation identified in 1 EIEE21 family ?Epileptic encephalopathy, early infantile, 21, 615833 (3), Autosomal recessive Necap1 (MGI:1914852)
chr12 8102901 8138606 12p13 12p13.31 605306 CLEC4A, CLECSF6, DCIR, DDB27 C-type lectin domain family 4, member A CLEC4A 50856 ENSG00000111729 Clec4a2 (MGI:1349412)
chr12 8221259 8227617 12p13.31 12p13.31 613041 FAM90A1 Family with sequence similarity 90, member A1 FAM90A1 55138 ENSG00000171847 other family members on chr. 8 Fam90a1b (MGI:1921682)
chr12 8455994 8478329 12p13.31-p31.2 12p13.31 613579 CLEC6A, CLEC4N C-type lectin domain family 6, member A CLEC6A 93978 ENSG00000205846 Clec4n (MGI:1861231)
chr12 8513491 8522365 12p13 12p13.31 609964 CLEC4D, CLECSF8, CLEC6 C-type lectin domain family 4, member D CLEC4D 338339 ENSG00000166527 Clec4d (MGI:1298389)
chr12 8533304 8541326 12p13 12p13.31 609962 CLEC4E, MINCLE C-type lectin domain family 4, member E CLEC4E 26253 ENSG00000166523 Clec4e (MGI:1861232)
chr12 8602165 8612969 12p13 12p13.31 605257 AICDA, AID, HIGM2 Activation-induced cytidine deaminase AICDA 57379 ENSG00000111732 Immunodeficiency with hyper-IgM, type 2, 605258 (3), Autosomal recessive Aicda (MGI:1342279)
chr12 8645942 8662887 12p13.1-p12.3 12p13.31 601103 MFAP5, MAGP2, AAT9 Microfibril-associated protein 5 MFAP5 8076 ENSG00000197614 Aortic aneurysm, familial thoracic 9, 616166 (3), Autosomal dominant Mfap5 (MGI:1354387)
chr12 8681676 8783097 12p13.31 12p13.31 614054 RIMKLB, NAAGS Ribosomal modification protein RimK-like family, member B RIMKLB 57494 ENSG00000166532 Rimklb (MGI:1918325)
chr12 8822471 8887201 12p13.31 12p13.31 610627 A2ML1 Alpha-2-macroglobulin-like 1 A2ML1 144568 ENSG00000166535
chr12 8914663 8941466 12p13.31 12p13.31 602978 PHC1, EDR1, HPH1, RAE28, MCPH11 Polyhomeotic-like 1 PHC1 1911 ENSG00000111752 mutations identified in 1 family ?Microcephaly 11, primary, autosomal recessive, 615414 (3), Autosomal recessive Phc1 (MGI:103248)
chr12 8940360 8949760 12p13 12p13.31 154540 M6PR Mannose-6-phosphate receptor, cation-dependent M6PR 4074 ENSG00000003056 M6pr (MGI:96904)
chr12 8950043 9215656 12p13.31 12p13.31 604874 KLRG1, MAFA, MAFAL Killer cell lectin-like receptor, subfamily G, member 1 KLRG1 10219 ENSG00000139187 Klrg1 (MGI:1355294)
chr12 9067707 9116228 12p13.3-p12.3 12p13.31 103950 A2M , A2MD Alpha-2-macroglobulin A2M 2 ENSG00000175899 cluster of genes Alpha-2-macroglobulin deficiency, 614036 (1), Autosomal dominant; {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant A2m (MGI:2449119)
chr12 9140729 9208369 12p13-p12.2 12p13.31 176420 PZP Pregnancy zone protein PZP 5858 ENSG00000126838
chr12 9417690 9448171 12p13 12p13.31 601151 DDX12, CHLR2 DEAD/H box-12 DDX12P 440081
chr12 9595273 9607900 12p13-p12 12p13.31 602890 KLRB1, NKRP1A Killer cell lectin-like receptor, subfamily B, member 1 KLRB1 3820 ENSG00000111796 Klrb1b,Klrb1c,Klrb1a (MGI:107538,MGI:107539,MGI:107540)
chr12 9669707 9699554 12p13 12p13.31 605659 CLEC2D, LLT1 C-type lectin domain family 2, member D CLEC2D 29121 ENSG00000069493
chr12 9715859 9733434 12p13.31 12p13.31 607467 CLECL1, DCAL1 C-type lectin-like 1 CLECL1 160365 ENSG00000184293
chr12 9752485 9760900 12p13-p12 12p13.31 107273 CD69 CD69 antigen (p60, early T-cell activation antigen) CD69 969 ENSG00000110848 Cd69 (MGI:88343)
chr12 9827302 9845004 12p13.2-p12.3 12p13.31 605029 KLRF1 Killer cell lectin-like receptor, subfamily F, member 1 KLRF1 51348 ENSG00000150045
chr12 9852368 9869858 12p13-p12 12p13.31 603242 CLEC2B, CLECSF2, AICL C-type lectin domain family 2, member B CLEC2B 9976 ENSG00000110852
chr12 9882732 9932429 12p13.31 12p13.31 612087 CLEC2A C-type lectin domain family 2, member A CLEC2A 387836 ENSG00000188393 Clec2f (MGI:3522133)
chr12 9951315 9995208 12p13 12p13.31 612088 CLEC12A, MICL C-type lectin domain family 12, member A CLEC12A 160364 ENSG00000172322 Clec12a (MGI:3040968)
chr12 9986118 10001893 12p13 12p13.3-p13.2 606783 CLEC2B, CLEC2 C-type lectin domain family 1, member B CLEC1B 51266 ENSG00000165682 Clec1b (MGI:1913287)
chr12 10000000 27600000 12p13.2-p11.23 610143 DFNB62 Deafness, autosomal recessive 62 DFNB62 692220 between D12S358 and D12S1042 Deafness, autosomal recessive 62, 610143 (2), Autosomal recessive
chr12 10000000 113900000 12p13.2-q24.1 601458 IBD2 Inflammatory bowel disease 2 IBD2 3378 mainly ulcerative colitis {Inflammatory bowel disease 2}, 601458 (2)
chr12 10000000 12600000 12p13.2 168710 PCS Parotid proline-rich salivary protein Pc linked to PRB2
chr12 10000000 12600000 12p13.2 613967 TAS2R45, T2R45 Taste receptor, type 2, member 45 TAS2R45 259291 ENSG00000255374
chr12 10006137 10018799 12p13.2 12p13.2 617573 CLEC12B C-type lectin domain family 12, member B CLEC12B 387837 ENSG00000256660 Clec12b (MGI:1918433)
chr12 10030676 10066029 12p13.31 12p13.2 612252 CLEC9A, DNGR1 C-type lectin domain family 9, member A CLEC9A 283420 ENSG00000197992 Clec9a (MGI:2444608)
chr12 10069503 10099064 12p13 12p13.2 606782 CLEC1A, CLEC1 C-type lectin domain family 1, member A CLEC1A 51267 ENSG00000150048 Clec1a (MGI:2444151)
chr12 10116776 10130268 12p13.2-p12.3 12p13.2 606264 CLEC7A, CLECSF12, DECTIN1, CANDF4 C-type lectin domain family 7, member A CLEC7A 64581 ENSG00000172243 in natural killer gene complex {Aspergillosis, susceptibility to}, 614079 (3); Candidiasis, familial, 4, autosomal recessive, 613108 (3), Autosomal recessive Clec7a (MGI:1861431)
chr12 10158299 10172190 12p13-p12 12p13.2 602601 OLR1, LOX1 Low density lipoprotein, oxidized, receptor 1 OLR1 4973 ENSG00000173391 {Myocardial infarction, susceptibility to}, 608446 (3) Olr1 (MGI:1261434)
chr12 10212845 10223127 12p12.3 12p13.2 607420 GABARAPL1, GEC1 GABA-A receptor-associated protein-like protein 1 GABARAPL1 23710 ENSG00000139112 Gabarapl1 (MGI:1914980)
chr12 10238382 10329606 12p13.2-p12.3 12p13.2 602894 KLRD1, CD94 Killer cell lectin-like receptor, subfamily D, member 1 KLRD1 3824 ENSG00000134539 Klrd1 (MGI:1196275)
chr12 10372352 10390053 12p13.2-p12.3 12p13.2 611817 KLRK1, NKG2D Kill cell lectin-like receptor, subfamily K, member 1 KLRK1 22914 ENSG00000213809
chr12 10407383 10409756 12p13.2-p12.3 12p13.2 602893 KLRC4, NKG2F, D12S2489E Killer cell lectin-like receptor, subfamily C, member 4 KLRC4 8302 ENSG00000183542
chr12 10412314 10420594 12p13.2-p12.3 12p13.2 602892 KLRC3, NKG2E Killer cell lectin-like receptor, subfamily C, member 3 KLRC3 3823 ENSG00000205810
chr12 10430598 10435992 12p13.2-p12.3 12p13.2 602891 KLRC2, NKG2C Killer cell lectin-like receptor, subfamily C, member 2 KLRC2 3822 ENSG00000205809
chr12 10441672 10454684 12p13.2-p12.3 12p13.2 161555 KLRC1, NKG2, NKG2A Killer cell lectin-like receptor, subfamily C, member 1 KLRC1 3821 ENSG00000134545 family of at least 3 genes on 12 Klrc1 (MGI:1336161)
chr12 10588477 10599834 12p13-p12 12p13.2 604274 KLRA1, LY49L Killer cell lectin-like receptor, subfamily A, member 1 KLRA1P 10748 ?functional
chr12 10618922 10674317 12p13.2 12p13.2 611433 STYK1, NOK Serine/threonine/tyrosine kinase 1 STYK1 55359 ENSG00000060140 Styk1 (MGI:2141396)
chr12 10699076 10723441 12p13.1 12p13.2 603437 CSDA, DBPA Cold-shock domain protein A YBX3 8531 ENSG00000060138 Ybx3 (MGI:2137670)
chr12 10801531 10802626 12p13 12p13.2 604793 TRB4, T2R7 Taste receptor, family B, member 4 TAS2R7 50837 ENSG00000121377 Tas2r130 (MGI:2681278)
chr12 10806050 10806979 12p13 12p13.2 604794 TRB5, T2R8 Taste receptor, family B, member 5 TAS2R8 50836 ENSG00000121314
chr12 10809093 10810167 12p13 12p13.2 604795 TRB6, T2R9 Taste receptor, family B, member 6 TAS2R9 50835 ENSG00000121381
chr12 10825345 10826268 12p13 12p13.2 604791 TRB2, T2R10 Taste receptor, family B, member 2 TAS2R10 50839 ENSG00000121318 Tas2r114 (MGI:2681218)
chr12 10845848 10849475 Chr.12 12p13.2 605359 PROL4, LPRP Proline rich 4, lacrimal PRR4 11272 ENSG00000111215
chr12 10880960 11171622 12p13.2 12p13.2 168730 PRH1 Proline-rich protein HaeIII, subfamily-1 PRH1 5554 ENSG00000231887 Pa, Db, PIF alleles
chr12 10907925 10909561 12p13 12p13.2 604792 TRB3, T2R13 Taste receptor, family B, member 3 TAS2R13 50838 ENSG00000212128 Tas2r121 (MGI:2681259)
chr12 10929235 10934844 12p13.2 12p13.2 168790 PRH2 Proline-rich protein HaeIII, subfamily-2 PRH2 5555 ENSG00000134551 Pr allele
chr12 10938253 10939206 12p13 12p13.2 604790 TRB1, T2R14 Taste receptor, family B, member 1 TAS2R14 50840 ENSG00000212127 Tas2r140 (MGI:2681298)
chr12 10985912 10986911 12p13.2 12p13.2 609627 TAS2R50, T2R50, TAS2R51, T2R51 Taste receptor, type 2, member 50 TAS2R50 259296 ENSG00000212126
chr12 10995961 10998303 12p13.2 12p13.2 613962 TAS2R20, T2R56 Taste receptor, type 2, member 20 TAS2R20 259295 ENSG00000255837
chr12 11021618 11022619 12p13 12p13.2 613961 TAS2R19, T2R19, T2R48 Taste receptor, type 2, member 19 TAS2R19 259294 ENSG00000212124
chr12 11030386 11031406 12p13.2 12p13.2 612669 TAS2R31, TAS2R44, T2R53 Taste receptor, type 2, member 31 TAS2R31 259290 ENSG00000256436 Tas2r136 (MGI:2681304)
chr12 11061364 11062293 12p13.2 12p13.2 612774 TAS2R46, T2R46, T2R54 Taste receptor, type 2, member 46 TAS2R46 259292 ENSG00000226761 Tas2r120 (MGI:2681256)
chr12 11091286 11092312 12p13.2 12p13.2 612668 TAS2R43, T2R52 Taste receptor, type 2, member 43 TAS2R43 259289 ENSG00000255374
chr12 11133284 11134243 12p13.2 12p13.2 613963 TAS2R30, T2R30, T2R47 Taste receptor, type 2, member 30 TAS2R30 259293 ENSG00000256188 previously assigned to chr.1
chr12 11185992 11186936 12p13 12p13.2 613966 TAS2R42, T2R42, T2R55 Taste receptor, type 2, member 42 TAS2R42 353164 ENSG00000186136 Tas2r131 (MGI:2681280)
chr12 11265913 11269706 12p13.2 12p13.2 168840 PRB3 Proline-rich protein BstNI, subfamily-3 (parotid salivary glycoprotein) PRB3 5544 ENSG00000197870 G1 allele
chr12 11307080 11310434 12p13.2 12p13.2 180990 PRB4 Proline-rich protein BstNI, subfamily-4 PRB4 5545 ENSG00000230657 Po, CON1, CON2 alleles
chr12 11351822 11355589 12p13.2 12p13.2 180989 PRB1 Proline-rich protein BstNI, subfamily-1 PRB1 5542 ENSG00000251655
chr12 11391539 11395563 12p13.2 12p13.2 168810 PRB2 Proline-rich protein BstNI, subfamily-2 (parotid size variant) PRB2 653247 ENSG00000121335 Ps allele
chr12 11649600 11895401 12p13 12p13.2 600618 ETV6, TEL, THC5 ETS variant gene-6 (TEL oncogene) ETV6 2120 ENSG00000139083 fused to PDGFRB or AML1 in leukemia Leukemia, acute myeloid, somatic, 601626 (3); Thrombocytopenia 5, 616216 (3), Autosomal dominant Etv6 (MGI:109336)
chr12 12049843 12099694 12p12 12p13.2 606126 BCLG Apoptosis regulator BCLG BCL2L14 79370 ENSG00000121380 Bcl2l14 (MGI:1914063)
chr12 12116024 12267021 12p13.3-p11.2 12p13.2 603507 LRP6, ADCAD2, STHAG7 Low density lipoprotein receptor-related protein 6 LRP6 4040 ENSG00000070018 {Coronary artery disease, autosomal dominant, 2}, 610947 (3), Autosomal dominant; Tooth agenesis, selective, 7, 616724 (3), Autosomal dominant Lrp6 (MGI:1298218)
chr12 12357077 12471220 12p13.2 12p13.2 616598 BORCS5, LOH12CR1, MYRLYSIN BLOC1-related complex, subunit 5 BORCS5 118426 ENSG00000165714 Borcs5 (MGI:1915024)
chr12 12473281 12562513 12p12 12p13.2 607175 DUSP16, MKP7, KIAA1700 Dual-specificity phosphatase 16 DUSP16 80824 ENSG00000111266 Dusp16 (MGI:1917936)
chr12 12611832 12645107 12p13 12p13.1 603476 CREBL2 Cyclic AMP response element-binding protein-like 2 CREBL2 1389 ENSG00000111269 Crebl2 (MGI:1889385)
chr12 12659690 12717785 12p13.2-p12.3 12p13.1 602927 GPR19 G protein-coupled receptor-19 GPR19 2842 ENSG00000183150 Gpr19 (MGI:892973)
chr12 12717269 12722382 12p13 12p13.1 600778 CDKN1B, KIP1, CDKN4, MEN4 Cyclin-dependent kinase inhibitor 1B (p27, Kip1) CDKN1B 1027 ENSG00000111276 Multiple endocrine neoplasia, type IV, 610755 (3), Autosomal dominant Cdkn1b (MGI:104565)
chr12 12725916 12791465 12p13.2 12p13.1 612456 APOLD1, VERGE Apolipoprotein L domain-containing 1 APOLD1 81575 ENSG00000178878 Apold1 (MGI:2685921)
chr12 12813345 12829980 12p13.1 12p13.1 615428 DDX47 DEAD box polypeptide 47 DDX47 51202 ENSG00000213782 Ddx47 (MGI:1915005)
chr12 12891021 12913665 12p13.1 12p13.1 604138 GPRC5A, RAI3, RAIG1 G protein-coupled receptor, family C, group 5, member A GPRC5A 9052 ENSG00000013588 Gprc5a (MGI:1891250)
chr12 12940517 12955907 12p13.3 12p13.1 607437 GPRC5D G protein-coupled receptor, family C, group 5, member D GPRC5D 55507 ENSG00000111291 Gprc5d (MGI:1935037)
chr12 12974863 13000308 Chr.12 12p13.1 605826 HEBP1, HBP Heme-binding protein 1 HEBP1 50865 ENSG00000013583 Hebp1 (MGI:1333880)
chr12 13044380 13083448 12p13.1 12p13.1 617838 FAM234B, KIAA1467 Family with sequence similarity 234, member B FAM234B 57613 ENSG00000084444 Fam234b (MGI:1921775)
chr12 13196667 13216773 12p12.3 12p13.1 602333 EMP1, TMP Epithelial membrane protein-1 EMP1 2012 ENSG00000134531 Emp1 (MGI:107941)
chr12 13537336 13982011 12p12 12p13.1 138252 GRIN2B, NMDAR2B, MRD6, EIEE27 Glutamate receptor, ionotropic, N-methyl D-aspartate 2B GRIN2B 2904 ENSG00000273079 Epileptic encephalopathy, early infantile, 27, 616139 (3), Autosomal dominant; Mental retardation, autosomal dominant 6, 613970 (3), Autosomal dominant Grin2b (MGI:95821)
chr12 14254913 14255485 12p13.1 12p13.1 139180 GNAI2P1, GNAI2L, GNAI2A Guanine nucleotide-binding protein (G protein), alpha-inhibiting, polypeptide 2 pseudogene 1 GNAI2P1 2772
chr12 14365631 14502934 12p13.1 12p13.1 613644 ATF7IP, AM, MCAF, MCAF1 Activating transcription factor 7-interacting protein ATF7IP 55729 ENSG00000171681 Atf7ip (MGI:1858965)
chr12 14612631 14696624 12p12 12p12.3 601330 GUCY2C, GUC2C, DIAR6, MECIL Guanylate cyclase 2C (heat stable enterotoxin receptor) GUCY2C 2984 ENSG00000070019 Diarrhea 6, 614616 (3), Autosomal dominant; Meconium ileus, 614665 (3), Autosomal recessive Gucy2c (MGI:106903)
chr12 14770719 14771130 12p13.1 12p12.3 615069 HIST4H4 Histone gene cluster 4, H4 histone HIST4H4 121504 ENSG00000197837 Hist1h4i (MGI:2448432)
chr12 14825568 14843532 12p13-p12 12p12.3 110600 ART4, DO, DOK1 ADP-ribosyltransferase-4 (Dombrock blood group) ART4 420 ENSG00000111339 [Blood group, Dombrock], 616060 (3) Art4 (MGI:1202710)
chr12 14880863 14886061 12p13.1-p12.3 12p12.3 154870 MGP Matrix Gla protein MGP 4256 ENSG00000111341 Keutel syndrome, 245150 (3), Autosomal recessive Mgp (MGI:96976)
chr12 14942014 14961769 12p12.3 12p12.3 602843 ARHGDIB, GDID4, D4 Rho GDP dissociation inhibitor (GDI) beta ARHGDIB 397 ENSG00000111348 Arhgdib (MGI:101940)
chr12 14973021 14981864 12p13 12p12.3 601190 PDE6H, RCD3, ACHM6 Phosphodiesterase 6H, cGMP-specific, cone, gamma PDE6H 5149 ENSG00000139053 Achromatopsia 6, 610024 (3), Autosomal recessive, Autosomal dominant; Retinal cone dystrophy 3, 610024 (3), Autosomal recessive, Autosomal dominant Pde6h (MGI:1925850)
chr12 15107781 15221476 12p12 12p12.3 612664 RERG Ras-like and estrogen-regulated growth inhibitor RERG 85004 ENSG00000134533 Rerg (MGI:2665139)
chr12 15322256 15598330 12p13-p12 12p12.3 600579 PTPRO, GLEPP1, NPHS6 Protein tyrosine phosphatase, receptor type, O PTPRO 5800 ENSG00000151490 Nephrotic syndrome, type 6, 614196 (3), Autosomal recessive Ptpro (MGI:1097152)
chr12 15620140 15789575 12p12.3 12p12.3 600206 EPS8, DFNB102 Epidermal growth factor receptor pathway substrate-8 EPS8 2059 ENSG00000151491 mutation identified in 1 DFNB102 family ?Deafness, autosomal recessive 102, 615974 (3), Autosomal recessive Eps8 (MGI:104684)
chr12 15882353 15903477 12p12.3 12p12.3 605986 STRAP, UNRIP, MAWD Serine/threonine kinase receptor-associated protein STRAP 11171 ENSG00000023734 previously assigned to 12q Strap (MGI:1329037)
chr12 16347141 16377188 Chr.12 12p12.3 138330 MGST1, GST12 Microsomal glutathione S-transferase 1 MGST1 4257 ENSG00000008394 pseudogene at 12q13-q14 Mgst1 (MGI:1913850)
chr12 16548371 16610232 12p13 12p12.3 180386 LMO3, RBTNL2, RHOM3 LIM domain only 3 (rhombotin-like 2) LMO3 55885 ENSG00000048540 expressed mainly in brain
chr12 16988746 16990627 12p12 12p12.3 601435 SKP1P2, SKP1B S-phase kinase-associated protein 1 pseudogene 2 (p19B) SKP1P2 728622
chr12 18242945 18716860 12p12 12p12.3 609001 PIK3C2G Phosphatidylinositol 3-kinase, class 2, gamma PIK3C2G 5288 ENSG00000139144 Pik3c2g (MGI:1203730)
chr12 18645528 18738058 12p12.3 12p12.3 608075 PLCZ1, SPGF17 Phospholipase C, zeta-1 PLCZ1 89869 ENSG00000139151 mutation identified in 1 SPGF17 family ?Spermatogenic failure 17, 617214 (3), Autosomal recessive Plcz1 (MGI:2150308)
chr12 18738110 18739187 12p12 12p12.3 608722 CAPZA3, CAPPA3 Capping protein, actin, alpha-3 CAPZA3 93661 ENSG00000177938 Capza3 (MGI:106221)
chr12 19129679 19376399 12p12 12p12.3 607770 PEPP2, KIAA1686 Phosphatidylinositol 3-phosphate-binding PH domain protein 2 PLEKHA5 54477 ENSG00000052126 Plekha5 (MGI:1923802)
chr12 19800000 26300000 12p12.2-p12.1 608742 HYT4 Hypertension, essential, susceptibility to, 4 444980 {Hypertension, essential, susceptibility to, 4}, 145500 (2), Multifactorial
chr12 20369244 20688578 12p12.2 12p12.2 123805 PDE3A, HTNB Phosphodiesterase 3A, cGMP-inhibited PDE3A 5139 ENSG00000172572 Hypertension and brachydactyly syndrome, 112410 (3), Autosomal dominant Pde3a (MGI:1860764)
chr12 20681799 20753385 12p12 12p12.2 613389 SLCO1C1, OATPF, OATP14, SLC21A14 Solute carrier organic anion transporter family, member 1C1 SLCO1C1 53919 ENSG00000139155 Slco1c1 (MGI:1889679)
chr12 20810703 20916910 12p12.2 12p12.2 605495 SLCO1B3, OATP8, OATP1B3, SLC21A8, HBLRR Solute carrier organic anion transporter family, member 1B3 SLCO1B3 28234 ENSG00000111700 HBLRR digenic with SLCO1B1 Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive Slco1b2 (MGI:1351899)
chr12 21131193 21239795 12p12 12p12.1 604843 SLCO1B1, LST1, OATP2, OATPC, OATP1B1, HBLRR Solute carrier organic anion transporter family, member 1B1 SLCO1B1 10599 ENSG00000134538 HBLRR digenic with SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive
chr12 21264599 21403662 12p12 12p12.1 602883 SLC21A3, OATP Solute carrier family 21 (organic anion transporter), member 3 SLCO1A2 6579 ENSG00000084453 Slco1a5 (MGI:1351865)
chr12 21354959 21379979 12p12.3-p12.1 12p12.1 147940 IAPP Islet amyloid polypeptide (diabetes-associated peptide; amylin) IAPP 3375 ENSG00000121351 Iapp (MGI:96382)
chr12 21437603 21471251 12p12.1 12p12.1 617220 PYROXD1, MFM8 Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 PYROXD1 79912 ENSG00000121350 Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive Pyroxd1 (MGI:2676395)
chr12 21468909 21501668 12p12-p11 12p12.1 600537 RECQL, RECQL1 RecQ helicase-like (DNA helicase, RecQ-like 1) RECQL 5965 ENSG00000004700 Recql (MGI:103021)
chr12 21501175 21518402 12p12.1 12p12.1 615078 GOLT1B, GOT1B, GCT2 Golgi transport 1B GOLT1B 51026 ENSG00000111711 Golt1b (MGI:1914214)
chr12 21531526 21604857 12p12.2 12p12.1 138571 GYS2 Glycogen synthase-2, liver GYS2 2998 ENSG00000111713 Glycogen storage disease 0, liver, 240600 (3), Autosomal recessive Gys2 (MGI:2385254)
chr12 21635341 21657970 12p12.2-p12.1 12p12.1 150100 LDHB, LDHBD Lactate dehydrogenase B LDHB 3945 ENSG00000111716 [Lactate dehydrogenase-B deficiency], 614128 (3) Ldhb (MGI:96763)
chr12 21764954 21775592 12p11.23 12p12.1 600935 KCNJ8 Potassium inwardly-rectifying channel, subfamily J, member 8 KCNJ8 3764 ENSG00000121361 Kcnj8 (MGI:1100508)
chr12 21797388 21941862 12p12.1 12p12.1 601439 ABCC9, SUR2, CMD1O, ATFB12, CANTU ATP-binding cassette, subfamily C, member 9 (sulfonylurea receptor 2) ABCC9 10060 ENSG00000069431 Atrial fibrillation, familial, 12, 614050 (3), Autosomal dominant; Cardiomyopathy, dilated, 1O, 608569 (3); Hypertrichotic osteochondrodysplasia, 239850 (3), Autosomal dominant Abcc9 (MGI:1352630)
chr12 22046173 22065673 12p12.1 12p12.1 603316 CMAS Cytidine monophosphate N-acetylneuraminic acid synthetase CMAS 55907 ENSG00000111726 Cmas (MGI:1337124)
chr12 22193390 22334713 12p12.1-p11.2 12p12.1 601123 SIAT8 Sialyltransferase-8 (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase) ST8SIA1 6489 ENSG00000111728 St8sia1 (MGI:106011)
chr12 22625141 22690673 12p12.1-p11.2 12p12.1 609858 ETNK1, EKI1 Ethanolamine kinase 1 ETNK1 55500 ENSG00000139163 Etnk1 (MGI:1922570)
chr12 23529498 24562700 12p12.1 12p12.1 604975 SOX5, LAMSHF SRY-box 5 SOX5 6660 ENSG00000134532 some LAMSHF patients have 12p12 deletions Lamb-Shaffer syndrome, 616803 (3), Autosomal dominant Sox5 (MGI:98367)
chr12 24810023 24949458 12p12 12p12.1 113520 BCAT1, BCT1 Branched chain aminotransferase-1, cytosolic BCAT1 586 ENSG00000060982 ?Hyperleucinemia-isoleucinemia or hypervalinemia (1) Bcat1 (MGI:104861)
chr12 24917701 24918383 12p12.1-p11.2 12p12.1 609860 DADR DAD1-related gene DAD1P1 56286
chr12 25052100 25108334 12p12.1 12p12.1 602003 LRMP, JAW1 Lymphoid-restricted membrane protein LRMP 4033 ENSG00000118308 Lrmp (MGI:108424)
chr12 25107056 25195161 12p12.1 12p12.1 616906 CASC1, LAS1, PPP1R54 Cancer susceptibility candidate 1 CASC1 55259 ENSG00000118307 Casc1 (MGI:2444480)
chr12 25204788 25251002 12p12.1 12p12.1 190070 KRAS, KRAS2, RASK2, NS, CFC2, RALD Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog KRAS 3845 ENSG00000133703 pseudogene KRAS1P on 6p12-p11 Arteriovenous malformation of the brain, somatic, 108010 (3); Bladder cancer, somatic, 109800 (3); Breast cancer, somatic, 114480 (3); Cardiofaciocutaneous syndrome 2, 615278 (3); Gastric cancer, somatic, 137215 (3); Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Lung cancer, somatic, 211980 (3); Noonan syndrome 3, 609942 (3), Autosomal dominant; Pancreatic carcinoma, somatic, 260350 (3); RAS-associated autoimmune leukoproliferative disorder, 614470 (3), Autosomal dominant; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3) Kras (MGI:96680)
chr12 25476081 25648603 12p12.1 12p12.1 617254 LMNTD1, IFLTD1, LMNARS1, PAS1C1 Lamin tail domain-containing protein 1 LMNTD1 160492 ENSG00000152936 Lmntd1 (MGI:1921321)
chr12 25958231 26079891 12p12.1 12p12.1 608231 RASSF8, C12orf2 RAS association domain family, member 8 RASSF8 11228 ENSG00000123094 Rassf8 (MGI:1918573)
chr12 26120025 26125069 12p12.1-p11.23 12p12.1 606200 BHLHE41, BHLHB3, DEC2, SHARP1 Basic helix-loop-helix domain-containing protein, member E41 BHLHE41 79365 ENSG00000123095 [Short sleeper], 612975 (3), Autosomal dominant
chr12 26121950 26234776 12p11.2 12p12.1 601599 SSPN, KRAG Sarcospan (Kirsten-ras associated gene) SSPN 8082 ENSG00000123096 Sspn (MGI:1353511)
chr12 26300000 51100000 12p11.23-q13.12 602096 AD5 Alzheimer disease, familial, type 5 AD5 8081 Alzheimer disease-5, 602096 (2), Autosomal dominant
chr12 26300000 54500000 12p11.2-q13.1 615022 ARCI7 Ichthyosis, congenital, autosomal recessive 7 101202686 between D12S345 and D12S390 Ichthyosis, congenital, autosomal recessive 7, 615022 (2), Autosomal recessive
chr12 26300000 67300000 12p11.2-q14 606257 STQTL3 Stature quantitative trait locus 3 282549 max lod at D12S398 and D12S10990 {Stature QTL 3}, 606257 (2)
chr12 26300000 57700000 12p11-q13 615390 VUR7 Vesicoureteral reflux 7 102095631 max lod at D12S1048 Vesicoureteral reflux 7, 615390 (2)
chr12 26335336 26833197 12p11 12p11.23 600144 ITPR2, ANHD Inositol 1,4,5-triphosphate receptor, type 2 ITPR2 3709 ENSG00000123104 mutation has been identified in 1 ANHD family ?Anhidrosis, isolated, with normal sweat glands, 106190 (3), Autosomal recessive Itpr2 (MGI:99418)
chr12 26905170 26938337 12p11.23 12p11.23 615079 ASUN, MAT89BB, GCT1 Asunder, spermatogenesis regulator INTS13 55726 ENSG00000064102 Ints13 (MGI:1918427)
chr12 26966523 27014426 12q11-q12 12p11.23 605181 TM7SF3 Transmembrane 7 superfamily, member 3 TM7SF3 51768 ENSG00000064115 Tm7sf3 (MGI:1914873)
chr12 27022521 27030672 12p11.23 12p11.23 603800 MED21, SURB7, SRB7 Mediator complex subunit 21 MED21 9412 ENSG00000152944 Med21 (MGI:1347064)
chr12 27244144 27325958 12p12.3 12p11.23 615836 STK38L, NDR2, KIAA0965 Serine/threonine protein kinase 38-like protein STK38L 23012 ENSG00000211455 Stk38l (MGI:1922250)
chr12 27332853 27425812 12p11.23 12p11.23 614517 ARNTL2, BMAL2, CLIF Aryl hydrocarbon receptor nuclear translocator-like protein 2 ARNTL2 56938 ENSG00000029153 Arntl2 (MGI:2684845)
chr12 27696518 27697595 12p11.22 12p11.22 610848 REP15 Rab15 effector protein REP15 387849 ENSG00000174236 Rep15 (MGI:1913782)
chr12 27710772 27756303 12q21.1-q21.3 12p11.22 611995 MRPS35, MRPS28 Mitochondrial ribosomal protein S35 MRPS35 60488 ENSG00000061794 3 pseudogenes Mrps35 (MGI:2385255)
chr12 27958083 27972863 12p12.1-p11.2 12p11.22 168470 PTHLH, BDE2 Parathyroid hormone-like hormone PTHLH 5744 ENSG00000087494 Brachydactyly, type E2, 613382 (3), Autosomal dominant; Humoral hypercalcemia of malignancy (1) Pthlh (MGI:97800)
chr12 28190426 28550165 12p11.22 12p11.22 617366 CCDC91 Coiled-coil domain-containing protein 91 CCDC91 55297 ENSG00000123106 Ccdc91 (MGI:1914265)
chr12 29149002 29335616 12p11.23 12p11.22 616156 FAR2, MLSTD1 Fatty acyl CoA reductase 2 FAR2 55711 ENSG00000064763 Far2 (MGI:2687035)
chr12 29336543 29381209 12p11.22 12p11.22 612236 ERGIC2, CDA14, PTX1 Endoplasmic reticulum-golgi intermediate compartment protein 2 ERGIC2 51290 ENSG00000087502 Ergic2 (MGI:1914706)
chr12 29500812 29784758 12p11.22 12p11.22 615855 TMTC1 Transmembrane and tetratricopeptide repeat domains-containing protein 1 TMTC1 83857 ENSG00000133687 Tmtc1 (MGI:3039590)
chr12 30628980 30695994 12p11.2 12p11.21 605600 IPO8, RANBP8 Importin 8 IPO8 10526 ENSG00000133704 Ipo8 (MGI:2444611)
chr12 30709551 30754992 12p11.21 12p11.21 610375 CAPRIN2, C1QDC1, EEG1, KIAA1873 Caprin family, member 2 CAPRIN2 65981 ENSG00000110888 Caprin2 (MGI:2448541)
chr12 31073844 31104798 12p11 12p11.21 601150 DDX11, CHLR1, KRG2 DEAD/H box-11 (CHL1-related helicase gene-1) DDX11 1663 ENSG00000013573 Warsaw breakage syndrome, 613398 (3), Autosomal recessive Ddx11 (MGI:2443590)
chr12 31280583 31326224 12p11 12p11.21 615027 SINHCAF, FAM60A SIN3-HDAC complex associated factor SINHCAF 58516 ENSG00000139146 Fam60a (MGI:1929091)
chr12 31382222 31591017 12p11.21 12p11.21 617279 DENND5B DENN domain-containing protein 5B DENND5B 160518 ENSG00000170456 Dennd5b (MGI:2444273)
chr12 31647159 31673113 12p11.21 12p11.21 615256 ETFBKMT, METTL20, C12orf72 Electron transfer flavoprotein beta-subunit lysine methyltransferase ETFBKMT 254013 ENSG00000139160 Etfbkmt (MGI:2443575)
chr12 31791184 31792240 12p11.21 12p11.21 616134 H3F3C H3 histone, family 3C H3F3C 440093 ENSG00000188375 Gm12657 (MGI:3651714)
chr12 32106772 32383636 12p11.2-p11.1 12p11.21 602204 BICD1 Bicaudal-D, Drosophila, homolog of, 1 BICD1 636 ENSG00000151746 second homolog on 9q Bicd1 (MGI:1101760)
chr12 32399522 32646049 12p11.2 12p11.21 611104 FGD4, FRABIN, CMT4H FYVE, RhoGEF, and PH domain-containing protein 4 FGD4 121512 ENSG00000139132 Charcot-Marie-Tooth disease, type 4H, 609311 (3), Autosomal recessive Fgd4 (MGI:2183747)
chr12 32679199 32745649 12p11.21 12p11.21 603850 DNM1L, DRP1, DVLP, DYMPLE, EMPF1, OPA5 Dynamin 1-like DNM1L 10059 ENSG00000087470 Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3), Autosomal recessive, Autosomal dominant; Optic atrophy 5, 610708 (3), Autosomal dominant Dnm1l (MGI:1921256)
chr12 32725246 32756457 12p11.21 12p11.21 610957 YARS2, TYRRS, MLASA2 Tyrosyl-tRNA synthetase 2 YARS2 51067 ENSG00000139131 Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3), Autosomal recessive Yars2 (MGI:1917370)
chr12 32790745 32896845 12p11 12p11.21 602861 PKP2, ARVD9 Plakophilin-2 PKP2 5318 ENSG00000057294 pseudogene on 12p13 Arrhythmogenic right ventricular dysplasia 9, 609040 (3), Autosomal dominant Pkp2 (MGI:1914701)
chr12 34022280 34035295 12p11.1 12p11.1 603313 ALG10, KCR1 Alg10, S. cerevisiae, homolog of ALG10 84920 ENSG00000139133 {Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3), Autosomal dominant Alg10b (MGI:2146159)
chr12 35500000 133275309 12q 179010 IHPS1, IHPS Pyloric stenosis, infantile hypertrophic 1 Pyloric stenosis, infantile hypertrophic 1, 179010 (2), Autosomal dominant, Multifactorial
chr12 37800000 92200000 12q12-q21 102300 RLS1 Restless legs syndrome, susceptibility to, 1 192142 between D12S1044 and D12S78 {Restless legs syndrome 1}, 102300 (2), Autosomal dominant
chr12 39293227 39443389 12q12 12q12 608283 KIF21A, KIAA1708, FEOM1, CFEOM1, CFEOM3B Kinesin family member 21A KIF21A 55605 ENSG00000139116 Fibrosis of extraocular muscles, congenital, 1, 135700 (3), Autosomal dominant; Fibrosis of extraocular muscles, congenital, 3B, 135700 (3), Autosomal dominant Kif21a (MGI:109188)
chr12 39530964 39651332 12q11-q12 12q12 601081 ABCD2, ALDR, ALDL1 ATP-binding cassette, subfamily D, member 2 ABCD2 225 ENSG00000173208 Abcd2 (MGI:1349467)
chr12 39755020 40106084 12q12 12q12 611036 SLC2A13, HMIT Solute carrier family 2 (facilitated glucose transporter), member 13 SLC2A13 114134 ENSG00000151229 Slc2a13 (MGI:2146030)
chr12 40224889 40369284 12q12 12q12 609007 LRRK2, PARK8 Leucine-rich repeat kinase 2 (dardarin) LRRK2 120892 ENSG00000188906 {Parkinson disease 8}, 607060 (3), Autosomal dominant Lrrk2 (MGI:1913975)
chr12 40393393 40570756 12q12 12q12 612170 MUC19 Mucin 19, oligomeric MUC19 283463
chr12 40692428 41072411 12q11-q12 12q12 600016 CNTN1, MYPCN Contactin 1 CNTN1 1272 ENSG00000018236 mutation identified in 1 MYPCN family ?Myopathy, congenital, Compton-North, 612540 (3), Autosomal recessive Cntn1 (MGI:105980)
chr12 41188447 41574589 12q12 12q12 609730 PDZRN4 PDZ domain-containing ring finger protein 4 PDZRN4 29951 ENSG00000165966 Pdzrn4 (MGI:3056996)
chr12 42081844 42144870 12q12 12q12 613321 GXYLT1, GLT8D3 Glucoside xylosyltransferase 1 GXYLT1 283464 ENSG00000151233 Gxylt1 (MGI:2684933)
chr12 42157103 42238372 12q12 12q12 607534 YAF2 YY1-associated factor 2 YAF2 10138 ENSG00000015153
chr12 42312085 42326129 12q12 12q12 610750 ZCRB1, MADP1 Zinc finger CCHC domain- and RNA-binding motif-containing protein 1 ZCRB1 85437 ENSG00000139168 possible pseudogenes on chr16, X, and 6 Zcrb1 (MGI:1914447)
chr12 42326125 42448620 12q12 12q12 608150 PPHLN1 Periphilin 1 PPHLN1 51535 ENSG00000134283 Pphln1 (MGI:1917029)
chr12 42458337 42589769 12q12 12q12 608500 PRICKLE1, RILP, EPM1B Prickle-like 1 PRICKLE1 144165 ENSG00000139174 Epilepsy, progressive myoclonic 1B, 612437 (3), Autosomal recessive Prickle1 (MGI:1916034)
chr12 43352842 43551970 12q11 12q12 611681 ADAMTS20 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 20 ADAMTS20 80070 ENSG00000173157 Adamts20 (MGI:2660628)
chr12 43758908 43789542 12q12 12q12 606883 IRAK4, REN64, IPD1 Interleukin 1 receptor-associated kinase 4 IRAK4 51135 ENSG00000198001 IRAK4 deficiency, 607676 (3); Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3) Irak4 (MGI:2182474)
chr12 43793722 43806374 12q12 12q12 610932 TWF1, PTK9 Twinfilin, Drosophila, homolog of, 1 TWF1 5756 ENSG00000151239 Twf1 (MGI:1100520)
chr12 44508274 44921847 12q13.11-q13.12 12q12 602320 NELL2 Nel-like 2 NELL2 4753 ENSG00000184613 Nell2 (MGI:1858510)
chr12 45215986 45440403 12q12 12q12 608663 ANO6, TMEM16F, SCTS, BDPLT7 Anoctamin 6 ANO6 196527 ENSG00000177119 Scott syndrome, 262890 (3), Autosomal recessive Ano6 (MGI:2145890)
chr12 45729705 45908039 12q12 12q12 609539 ARID2, BAF200, KIAA1557, CSS6 AT-rich interaction domain-containing protein 2 ARID2 196528 ENSG00000189079 Coffin-Siris syndrome 6, 617808 (3), Autosomal dominant Arid2 (MGI:1924294)
chr12 45919130 45992039 12q12-q13.11 12q12 603668 SCAF11, SFRS2IP, SIP1, CASP11, SRRP129 SR-related C-terminal domain-associated factor 11 SCAF11 9169 ENSG00000139218 previously assigned to 21q22.3 Scaf11 (MGI:1919443)
chr12 46000000 57700000 12q13 613061 BCC4 Basal cell carcinoma, susceptibility to, 4 100307121 associated with rs11170164 {Basal cell carcinoma, susceptibility to, 4}, 613061 (2)
chr12 46000000 57700000 12q13 616182 CMTS Chronic mountain sickness, susceptibility to 105180377 {Chronic mountain sickness, susceptibility to}, 616182 (2)
chr12 46000000 67300000 12q13-q14 607841 DFNA48 Deafness, autosomal dominant 48 Deafness, autosomal dominant 48, 607841 (2), Autosomal dominant
chr12 46000000 92200000 12q13-q21 600808 ENUR2 Enuresis, nocturnal, 2 ENUR2 2032 Enuresis, nocturnal, 2, 600808 (2), Autosomal dominant
chr12 46000000 57700000 12q13 167960 HPV18I2 Human papillomavirus type 18 integration site-2 HPV18I2 3261 on 8 near MYC in HeLa
chr12 46000000 71100000 12q13.11-q15 614346 MRT25 Mental retardation, autosomal recessive 25 MRT25 100852403 between rs4760658 and rs1882033 Mental retardation, autosomal recessive 25, 614346 (2), Autosomal recessive
chr12 46000000 67300000 12q13-q14 604681 PABPL2 Poly(A)-binding protein-like 2 ?pseudogenes on 3q and 13q
chr12 46000000 57700000 12q13 184100 SPDT Spondyloepiphyseal dysplasia tarda, autosomal dominant 103875461 Spondyloepiphyseal dysplasia tarda, autosomal dominant, 184100 (2), Autosomal dominant
chr12 46183054 46269424 12q13.11 12q13.11 608490 SLC38A1 Solute carrier family 38 (amino acid transporter), member 1 SLC38A1 81539 ENSG00000111371 Slc38a1 (MGI:2145895)
chr12 46358187 46372861 12q13.11 12q13.11 605180 SLC38A2, ATA2, KIAA1382 Solute carrier family 38, member 2 SLC38A2 54407 ENSG00000134294 Slc38a2 (MGI:1915010)
chr12 46764760 46832421 12q13 12q13.11 608065 SLC38A4, NAT3, ATA3 Solute carrier family 38 (amino acid transporter), member 4 SLC38A4 55089 ENSG00000139209 Slc38a4 (MGI:1916604)
chr12 47075706 47080825 12q13.11 12q13.11 615690 AMIGO2, ALI1 Adhesion molecule with Ig-like domain 2 AMIGO2 347902 ENSG00000139211 Amigo2 (MGI:2145995)
chr12 47661931 47706060 12q13.11 12q13.11 611477 RPAP3 RNA polymerase II-associated protein 3 RPAP3 79657 ENSG00000005175 Rpap3 (MGI:1277218)
chr12 47709733 47725571 12q13.1 12q13.11 606720 ENDOU, PP11 Endonuclease polyU-specific ENDOU 8909 ENSG00000111405 Endou (MGI:97746)
chr12 47753618 47782752 12q13 12q13.11 612187 HRG1 Heme-responsive gene 1 SLC48A1 55652 ENSG00000211584 Slc48a1 (MGI:1914989)
chr12 47734669 47759105 Chr.12 12q13.11 606057 EPAC cAMP-regulated guanine nucleotide exchange factor I RAPGEF3 10411 ENSG00000079337 Rapgef3 (MGI:2441741)
chr12 47782709 47820611 Chr.12 12q13.11 606542 HDAC7A, HDAC7 Histone deacetylase 7A HDAC7 51564 ENSG00000061273 Hdac7 (MGI:1891835)
chr12 47841536 47905030 12q12-q14 12q13.11 601769 VDR Vitamin D (1,25-dihydroxyvitamin D3) receptor VDR 7421 ENSG00000111424 ?Osteoporosis, involutional, 166710 (1), Autosomal dominant; Rickets, vitamin D-resistant, type IIA, 277440 (3), Autosomal recessive Vdr (MGI:103076)
chr12 47972964 48006211 12q13.11-q13.2 12q13.11 120140 COL2A1 Collagen II, alpha-1 polypeptide COL2A1 1280 ENSG00000139219 Achondrogenesis, type II or hypochondrogenesis, 200610 (3), Autosomal dominant; Avascular necrosis of the femoral head, 608805 (3), Autosomal dominant; Czech dysplasia, 609162 (3), Autosomal dominant; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3), Autosomal dominant; Kniest dysplasia, 156550 (3), Autosomal dominant; Legg-Calve-Perthes disease, 150600 (3), Autosomal dominant; Osteoarthritis with mild chondrodysplasia, 604864 (3), Autosomal dominant; Platyspondylic skeletal dysplasia, Torrance type, 151210 (3), Autosomal dominant; SED congenita, 183900 (3), Autosomal dominant; SMED Strudwick type, 184250 (3), Autosomal dominant; Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3), Autosomal dominant; Spondyloperipheral dysplasia, 271700 (3), Autosomal dominant; Stickler sydrome, type I, nonsyndromic ocular, 609508 (3), Autosomal dominant; Stickler syndrome, type I, 108300 (3), Autosomal dominant; Vitreoretinopathy with phalangeal epiphyseal dysplasia (3) Col2a1 (MGI:88452)
chr12 48042892 48106307 12q13.1 12q13.11 612157 SENP1 Sentrin-specific protease family, member 1 SENP1 29843 ENSG00000079387 Senp1 (MGI:2445054)
chr12 48105252 48146403 12q13.3 12q13.11 610681 PFKM, GSD7 Phosphofructokinase, muscle type PFKM 5213 ENSG00000152556 incorrectly assigned to chr.1 Glycogen storage disease VII, 232800 (3), Autosomal recessive Pfkm (MGI:97548)
chr12 48147787 48157594 12q13 12q13.11 615053 ASB8 Ankyrin repeat- and SOCS box-containing protein 8 ASB8 140461 ENSG00000177981 Asb8 (MGI:1925791)
chr12 48334379 48351413 12q13.11 12q13.11 613906 ZNF641 Zinc finger protein 641 ZNF641 121274 ENSG00000167528 Zfp641 (MGI:2442788)
chr12 48472664 48473059 12q13.11 12q13.11 606878 ANP32D, PP32R2 Acidic leucine-rich nuclear phosphoprotein 32 family, member D ANP32D 23519 ENSG00000139223
chr12 48567683 48571882 12q13 12q13.11 149750 LALBA Lactalbumin, alpha LALBA 3906 ENSG00000167531 Lalba (MGI:96742)
chr12 48653210 48682251 12q13.11 12q13.11 615488 KANSL2, NSL2, C12orf41 KAT8 regulatory NSL complex, subunit 2 KANSL2 54934 ENSG00000139620 Kansl2 (MGI:1916862)
chr12 48654381 48654517 12q13.11 12q13.11 615487 SNORA2C, SNORA34, ACA34, MIR1291 Small nucleolar RNA, H/ACA box, 34 SNORA2C 677815 MIR1291 in intron of SNORA34
chr12 48688457 48716997 12q11-q13.3 12q13.11-q13.12 143055 CCNT1, CCNT Cyclin T1 CCNT1 904 ENSG00000129315 Ccnt1 (MGI:1328363)
chr12 48766190 48789095 12q12-q13 12q13.12 600294 ADCY6, LCCS8 Adenylate cyclase-6 ADCY6 112 ENSG00000174233 mutation identified in 1 LCCS8 family ?Lethal congenital contracture syndrome 8, 616287 (3), Autosomal recessive Adcy6 (MGI:87917)
chr12 48814431 48828942 12q13 12q13.12 601958 CACNB3 Calcium channel, voltage-dependent, beta 3 subunit CACNB3 784 ENSG00000167535 Cacnb3 (MGI:103307)
chr12 48829755 48852173 12q13.12 12q13.12 612172 DDX23, PRP28 Dead box polypeptide 23 DDX23 9416 ENSG00000174243 Ddx23 (MGI:1921601)
chr12 48857132 48865869 12q13.12 12q13.12 609038 RND1, RHO6 Rho family GTPase 1 RND1 27289 ENSG00000172602 Rnd1 (MGI:2444878)
chr12 48904109 48921575 12q13.12 12q13.12 611088 CCDC65, CILD27 Coiled-coil domain-containing protein 65 CCDC65 85478 ENSG00000139537 Ciliary dyskinesia, primary, 27, 615504 (3), Autosomal recessive Ccdc65 (MGI:2146001)
chr12 48921958 48925546 12q13 12q13.12 610571 FKBP11, FKBP19 FK506-binding protein 11 FKBP11 51303 ENSG00000134285 Fkbp11 (MGI:1913370)
chr12 48930251 48957525 12q13 12q13.12 103190 ARF3 ADP-ribosylation factor-3 ARF3 377 ENSG00000134287 Arf3 (MGI:99432)
chr12 48965339 48979586 12q13 12q13.12 601906 WNT10B, SHFM6, STHAG8 Wingless-type MMTV integration site family, member 10B WNT10B 7480 ENSG00000169884 Split-hand/foot malformation 6, 225300 (3), Autosomal recessive; Tooth agenesis, selective, 8, 617073 (3), Autosomal dominant Wnt10b (MGI:108061)
chr12 48978452 48982612 12q12-q13 12q13.12 164820 WNT1, INT1, OI15, BMND16 Wingless-type MMTV integration site family, member 1 (oncogene INT1) WNT1 7471 ENSG00000125084 Osteogenesis imperfecta, type XV, 615220 (3), Autosomal recessive; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3) Wnt1 (MGI:98953)
chr12 48995148 49001772 12q13.1 12q13.12 610588 DDN, KIAA0749 Dendrin DDN 23109 ENSG00000181418 Ddn (MGI:108101)
chr12 49002271 49018974 12q13.1 12q13.12 602742 PRKAG1 Protein kinase, AMP-activated, noncatalytic, gamma-1 PRKAG1 5571 ENSG00000181929 Prkag1 (MGI:108411)
chr12 49018974 49060883 12q13.12 12q13.12 602113 KMT2D, MLL2, ALR, KABUK1 Lysine (K)-specific methyltransferase 2D KMT2D 8085 ENSG00000167548 Kabuki syndrome 1, 147920 (3), Autosomal dominant Kmt2d (MGI:2682319)
chr12 49086655 49094818 12q13.1 12q13.12 605423 DHH, SRXY7, GDXYM Desert hedgehog DHH 50846 ENSG00000139549 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3); 46XY sex reversal 7, 233420 (3), Autosomal recessive Dhh (MGI:94891)
chr12 49096550 49110899 12q13.12 12q13.12 610007 LMBR1L, LIMR, KIAA1174 Limb region 1 homolog-like LMBR1L 55716 ENSG00000139636 Lmbr1l (MGI:1289247)
chr12 49127781 49131520 12q13.12 12q13.12 602530 TUBA1B Tubulin, alpha-1B TUBA1B 10376 ENSG00000123416 Tuba1b (MGI:107804)
chr12 49184794 49189323 12q12-q14 12q13.12 602529 TUBA1A, TUBA3, LIS3 Tubulin, alpha-1A TUBA1A 7846 ENSG00000167552 Lissencephaly 3, 611603 (3), Autosomal dominant Tuba1a (MGI:98869)
chr12 49295125 49298697 12q12-q13 12q13.12 170710 PRPH Peripherin PRPH 5630 ENSG00000135406 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant Prph (MGI:97774)
chr12 49332408 49337194 12q13 12q13.12 615229 C1QL4, CTRP11 Complement component 1, q subcomponent-like 4 C1QL4 338761 ENSG00000186897 C1ql4 (MGI:3579909)
chr12 49366904 49527440 12q13.2 12q13.12 611667 SPATS2, SPATA10, P59SCR, SCR59 Spermatogenesis-associated serine-rich protein 2 SPATS2 65244 ENSG00000123352 Spats2 (MGI:1919822)
chr12 49538540 49558311 12q13 12q13.12 604527 KCNH3, BEC1 Potassium voltage-gated channel, subfamily H (eag-related), member 3 KCNH3 23416 ENSG00000135519 Kcnh3 (MGI:1341723)
chr12 49558293 49568232 12q13.12 12q13.12 609504 MCRS1, MSP58, MCRS2 Microspherule protein 1 (microspherule protein 2, included) MCRS1 10445 ENSG00000187778 Mcrs1 (MGI:1858420)
chr12 49636498 49707413 12q13 12q13.12 616288 FMNL3, FRL2 Formin-like 3 FMNL3 91010 ENSG00000161791 Fmnl3 (MGI:109569)
chr12 49741509 49764933 12q13.12 12q13.12 600748 TMBIM6, TEGT Transmembrane BAX inhibitor motif-containing protein 6 TMBIM6 7009 ENSG00000139644 Tmbim6 (MGI:99682)
chr12 49791138 49828749 12q13.12 12q13.12 615104 NCKAP5L, KIAA1602 NCK-associated protein 5-like NCKAP5L 57701 ENSG00000167566 Nckap5l (MGI:3609653)
chr12 49866895 49903976 12q13 12q13.12 604306 FAIM2, LFG, NMP35 FAS apoptotic inhibitory molecule 2 FAIM2 23017 ENSG00000135472 Faim2 (MGI:1919643)
chr12 49950740 49958880 12q13 12q13.12 107777 AQP2 Aquaporin-2 (collecting duct) AQP2 359 ENSG00000167580 Diabetes insipidus, nephrogenic, 125800 (3), Autosomal recessive, Autosomal dominant Aqp2 (MGI:1096865)
chr12 49961495 49965681 12q13 12q13.12 600442 AQP5, PPKB Aquaporin-5 AQP5 362 ENSG00000161798 Palmoplantar keratoderma, Bothnian type, 600231 (3), Autosomal dominant Aqp5 (MGI:106215)
chr12 49972836 49977138 12q13 12q13.12 601383 AQP6, AQP2L Aquaporin-6, kidney specific AQP6 363 ENSG00000086159 Aqp6 (MGI:1341204)
chr12 49989161 50033205 12q13.12 12q13.12 604980 RCGAP1, MGCRACGAP, CYK4 GTPase-activating protein, Rac, 1 RACGAP1 29127 ENSG00000161800 Racgap1 (MGI:1349423)
chr12 50057636 50083621 12q12 12q13.12 602866 ACCN2 Cation channel, amiloride-sensitive, neuronal, 2 ASIC1 41 ENSG00000110881 Asic1 (MGI:1194915)
chr12 50085199 50100710 12q13-q14 12q13.12 601735 SMARCD1, BAF60A SW1/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 SMARCD1 6602 ENSG00000066117 Smarcd1 (MGI:1933623)
chr12 50103818 50111319 12q12-q13 12q13.12 138420 GPD1, HTGTI Glycerol-3-phosphate dehydrogenase, soluble GPD1 2819 ENSG00000167588 Hypertriglyceridemia, transient infantile, 614480 (3), Autosomal recessive Gpd1 (MGI:95679)
chr12 50111980 50120456 12q13.12 12q13.12 614478 COX14, C12orf62 Cytochrome c oxidase assembly protein COX14 COX14 84987 ENSG00000178449 mutation identified in 1 Cox4 deficient family ?Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial Cox14 (MGI:1913629)
chr12 50129305 50167532 12q13.12 12q13.12 615335 CERS5, LASS5, TRH4 Ceramide synthase 5 CERS5 91012 ENSG00000139624 Cers5 (MGI:1919199)
chr12 50175779 50283569 12q13 12q13.12 608364 LIMA1, EPLIN, SREBP3 LIM domain and actin-binding protein 1 LIMA1 51474 ENSG00000050405 Lima1 (MGI:1920992)
chr12 50504984 50748666 12q13.12 12q13.12 611379 DIP2B, KIAA1463 Disco-interacting protein 2, Drosophila, homolog of, B DIP2B 57609 ENSG00000066084 Mental retardation, FRA12A type, 136630 (3), Autosomal dominant Dip2b (MGI:2145977)
chr12 50763681 50821161 12q13 12q13.12 123803 ATF1, TREB36 Activating transcription factor 1 ATF1 466 ENSG00000123268 fused with EWS in soft tissue clear cell sarcoma, with FUS in angiomatoid fibrous histiocytoma Atf1,Atf1-ps (MGI:3037720,MGI:1298366)
chr12 50952262 51028334 12q13 12q13.12 600523 SLC11A2, NRAMP2, DCT1, DMT1, AHMIO1 Solute carrier family 11 (proton-coupled divalent metal ion transporter) member 2 SLC11A2 4891 ENSG00000110911 Anemia, hypochromic microcytic, with iron overload 1, 206100 (3), Autosomal recessive Slc11a2 (MGI:1345279)
chr12 51093755 51173142 12q13 12q13.12-q13.13 189889 TFCP2 Transcription factor CP2, alpha globin TFCP2 7024 ENSG00000135457 Tfcp2 (MGI:98509)
chr12 51281037 51324679 12q13.13 12q13.13 605936 BIN2 Bridging integrator 2 BIN2 51411 ENSG00000110934 previously mapped to 4q22.1 Bin2 (MGI:3611448)
chr12 51328442 51346678 12q13 12q13.13 130120 CELA1, ELA1 Chymotrypsin-like elastase family, member 1 CELA1 1990 ENSG00000139610 on proximal 12p Cela1 (MGI:95314)
chr12 51351869 51391954 12q13 12q13.13 605148 GALNT6, GalNAcT6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 GALNT6 11226 ENSG00000139629 Galnt6 (MGI:1891640)
chr12 51391316 51515762 Chr.12 12q13.13 605024 SLC4A8, NBC3 Solute carrier family 4 (sodium bicarbonate cotransporter), member 8 SLC4A8 9498 ENSG00000050438 Slc4a8 (MGI:1928745)
chr12 51589957 51812863 12q13 12q13.13 600702 SCN8A, CIAT, EIEE13, BFIS5 Sodium channel, voltage gated, type VIII, alpha polypeptide SCN8A 6334 ENSG00000196876 mutation identified in 1 CIAT family ?Cognitive impairment with or without cerebellar ataxia, 614306 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 13, 614558 (3), Autosomal dominant; Seizures, benign familial infantile, 5, 617080 (3), Autosomal dominant Scn8a (MGI:103169)
chr12 51906912 51923360 12q11-q14 12q13.13 601284 ACVRL1, ACVRLK1, ALK1, HHT2 Activin A receptor, type II-like kinase 1 ACVRL1 94 ENSG00000139567 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3), Autosomal dominant Acvrl1 (MGI:1338946)
chr12 51951666 51997078 12q13 12q13.13 601300 ACVR1B, ACVRLK4, ALK4 Activin A receptor, type IB ACVR1B 91 ENSG00000135503 Pancreatic cancer, somatic (3) Acvr1b (MGI:1338944)
chr12 52006944 52015888 12q13.13 12q13.13 612027 GRASP, TAMALIN GRP1-associated scaffold protein GRASP 160622 ENSG00000161835 Grasp (MGI:1860303)
chr12 52022831 52059506 12q13 12q13.13 139139 NR4A1, HMR, NP10, GFRP1 Nuclear receptor subfamily 4, group A, member 1 NR4A1 3164 ENSG00000123358 Nr4a1 (MGI:1352454)
chr12 52069922 52077494 12q13.13 12q13.13 615089 ATG101, C12orf44 Autophagy-related protein 101 ATG101 60673 ENSG00000123395 Atg101 (MGI:1915368)
chr12 52168995 52191999 12q13.13 12q13.13 611161 KRT80, KB20 Keratin 80 KRT80 144501 ENSG00000167767 Krt80 (MGI:1921377)
chr12 52233169 52252666 12q12-q14 12q13.13 148059 KRT7 Keratin 7 KRT7 3855 ENSG00000135480 Krt7 (MGI:96704)
chr12 52270506 52309162 12q13 12q13.13 601928 KRT86, KRTHB6, HB6 Keratin 86 KRT86 3892 ENSG00000170442 Monilethrix, 158000 (3), Autosomal dominant Krt86 (MGI:109362)
chr12 52285912 52291514 12q13 12q13.13 602153 KRT81, KRTHB1, HB1 Keratin 81 KRT81 3887 ENSG00000205426 Monilethrix, 158000 (3), Autosomal dominant Krt81 (MGI:1928858)
chr12 52314300 52321397 12q13 12q13.13 602765 KRT83, KRTHB3, HB3, MNLIX, EKVP5 Keratin 83 KRT83 3889 ENSG00000170523 Erythrokeratodermia variabilis et progressiva 5, 617756 (3), Autosomal recessive; Monilethrix, 158000 (3), Autosomal dominant Krt83 (MGI:3690448)
chr12 52360005 52367524 12q13 12q13.13 602767 KRT85, KRTHB5, HB5, ECTD4 Keratin 85 KRT85 3891 ENSG00000135443 Ectodermal dysplasia 4, hair/nail type, 602032 (3), Autosomal recessive
chr12 52377664 52386976 12q13.13 12q13.13 602766 KRT84, KRTHB4, HB4 Keratin 84 KRT84 3890 ENSG00000161849 Krt84 (MGI:96700)
chr12 52393950 52406391 12q13.13 12q13.13 601078 KRT82, KRTHB2, HB2 Keratin 82 KRT82 3888 ENSG00000161850 Krt82 (MGI:2149248)
chr12 52424069 52434325 12q13 12q13.13 609025 KRT75, K6HF, PFB Keratin 75 KRT75 9119 ENSG00000170454 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3) Krt75 (MGI:1923500)
chr12 52446650 52452125 12q13 12q13.13 148042 KRT6B, PC4 Keratin 6B KRT6B 3854 ENSG00000185479 Pachyonychia congenita 4, 615728 (3) Krt6a,Krt6b (MGI:1333768,MGI:1100845)
chr12 52468515 52473784 12q13.13 12q13.13 612315 KRT6C, PPKNEFD Keratin 6C KRT6C 286887 ENSG00000170465 Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3), Autosomal dominant
chr12 52487173 52493396 12q13 12q13.13 148041 KRT6A, PC3 Keratin 6A KRT6A 3853 ENSG00000205420 Pachyonychia congenita 3, 615726 (3)
chr12 52514574 52520458 12q13 12q13.13 148040 KRT5, DDD1 Keratin 5 KRT5 3852 ENSG00000186081 Dowling-Degos disease 1, 179850 (3), Autosomal dominant; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3), Autosomal dominant; Epidermolysis bullosa simplex, Koebner type, 131900 (3), Autosomal dominant; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3), Autosomal dominant; Epidermolysis bullosa simplex, recessive 1, 601001 (3), Autosomal recessive; Epidermolysis bullosa simplex-MCR, 609352 (3); Epidermolysis bullosa simplex-MP, 131960 (3), Autosomal dominant Krt5 (MGI:96702)
chr12 52543908 52553146 12q13 12q13.13 608245 KRT71, K6IRS1, KRT6IRS1, HYPT13 Keratin 71 KRT71 112802 ENSG00000139648 mutation identified in 1 HYPT13 family ?Hypotrichosis 13, 615896 (3), Autosomal dominant Krt71 (MGI:1861586)
chr12 52565818 52573824 12q13 12q13.13 608248 KRT74, K6IRS4, KRT6IRS4, HTSS2, HYPT3, ADWH Keratin 74 KRT74 121391 ENSG00000170484 mutation identified in 1 HYPT3 family and ECTD7 family ?Ectodermal dysplasia 7, hair/nail type, 614929 (3), Autosomal recessive; ?Hypotrichosis 3, 613981 (3), Autosomal dominant; Woolly hair, autosomal dominant, 194300 (3), Autosomal dominant
chr12 52585588 52602899 12q13 12q13.13 608246 KRT72, K6IRS2, KRT6IRS2 Keratin 72 KRT72 140807 ENSG00000170486 Krt72 (MGI:2146034)
chr12 52601812 52620132 12q13 12q13.13 608247 KRT73, K6IRS3, KRT6IRS3 Keratin 73 KRT73 319101 ENSG00000186049 Krt73 (MGI:3607712)
chr12 52644557 52652174 12q11-q13 12q13.13 600194 KRT2, KRT2A, KRT2E Keratin 2 KRT2 3849 ENSG00000172867 Ichthyosis bullosa of Siemens, 146800 (3), Autosomal dominant
chr12 52674735 52680406 12q13 12q13.13 139350 KRT1, EPPK, NEPPK, EHK Keratin 1 KRT1 3848 ENSG00000167768 close to Hox-3 in mouse; class II keratin Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive, Autosomal dominant; Ichthyosis histrix, Curth-Macklin type, 146590 (3), Autosomal dominant; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3), Autosomal dominant; Keratosis palmoplantaris striata III, 607654 (3); Palmoplantar keratoderma, epidermolytic, 144200 (3), Autosomal dominant; Palmoplantar keratoderma, nonepidermolytic, 600962 (3), Autosomal dominant Krt1 (MGI:96698)
chr12 52689611 52703523 12q13.13 12q13.13 611158 KRT77, K1B Keratin 77 KRT77 374454 ENSG00000189182 Krt77 (MGI:3588209)
chr12 52768154 52777344 12q13.13 12q13.13 616671 KRT76, K76, KRT2P Keratin 76, type II KRT76 51350 ENSG00000185069 Krt76 (MGI:1924305)
chr12 52789684 52805734 12q13 12q13.13 148043 KRT3 Keratin 3 KRT3 3850 ENSG00000186442 Meesmann corneal dystrophy, 122100 (3), Autosomal dominant
chr12 52806542 52814115 12q13 12q13.13 123940 KRT4, CYK4, WSN1 Keratin 4 KRT4 3851 ENSG00000170477 class II keratin White sponge nevus 1, 193900 (3), Autosomal dominant Krt4 (MGI:96701)
chr12 52821446 52834292 12q13.13 12q13.13 611160 KRT79, KRT6L, K6L Keratin 79 KRT79 338785 ENSG00000185640 Krt79 (MGI:2385030)
chr12 52837803 52848993 12q13.13 12q13.13 611159 KRT78, K5B Keratin 78 KRT78 196374 ENSG00000170423 Krt78 (MGI:1917529)
chr12 52897186 52949865 12q13 12q13.13 148060 KRT8 Keratin 8 KRT8 3856 ENSG00000170421 Cirrhosis, cryptogenic, 215600 (3), Autosomal recessive; {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3), Autosomal recessive Krt8 (MGI:96705)
chr12 52948870 52952900 12q13 12q13.13 148070 KRT18 Keratin 18 KRT18 3875 ENSG00000111057 contiguous to KRT8, type II heteromer partner Cirrhosis, cryptogenic, 215600 (3), Autosomal recessive; {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3), Autosomal recessive Krt18 (MGI:96692)
chr12 53006257 53042214 12q13.13 12q13.13 603928 EIF4B Eukaryotic translation initiation factor 4B EIF4B 1975 ENSG00000063046 Eif4b (MGI:95304)
chr12 53046979 53064378 12q13.13 12q13.13 607717 TNS2, TENC1, C1TEN, KIAA1075 Tensin 2 TNS2 23371 ENSG00000111077 Tns2 (MGI:2387586)
chr12 53097651 53102343 Chr.12 12q13.13 146735 IGFBP6 Insulin-like growth factor-binding protein-6 IGFBP6 3489 ENSG00000167779 Igfbp6 (MGI:96441)
chr12 53103489 53124538 12q13 12q13.13 601311 SOAT2, ACACT2 Sterol O-acyltransferase 2 SOAT2 8435 ENSG00000167780 Soat2 (MGI:1332226)
chr12 53157662 53181662 12q13.13 12q13.13 616569 CSAD, CSD, PCAP Cysteine sulfinic acid decarboxylase CSAD 51380 ENSG00000139631 Csad (MGI:2180098)
chr12 53191317 53207374 12q13.13 12q13.13 147559 ITGB7 Integrin, beta-7 ITGB7 3695 ENSG00000139626 Itgb7 (MGI:96616)
chr12 53210565 53232255 12q13 12q13.13 180190 RARG Retinoic acid receptor, gamma polypeptide RARG 5916 ENSG00000172819 Rarg (MGI:97858)
chr12 53268256 53293642 12q13 12q13.13 604143 ESPL1, ESP1 Extra spindle poles-like 1 ESPL1 9700 ENSG00000135476 prev. mapping to chr.8 Espl1 (MGI:2146156)
chr12 53295450 53299449 12q12 12q13.13 604899 PFDN5, MM1 Prefoldin 5 PFDN5 5204 ENSG00000123349 Pfdn5 (MGI:1928753)
chr12 53299685 53307180 12q13 12q13.13 611366 C12orf10, MYG1 Chromosome 12 open reading frame 10 C12orf10 60314 ENSG00000139637 Myg1 (MGI:1929864)
chr12 53307455 53321627 12q13 12q13.13 605378 AAAS, AAA Aladin AAAS 8086 ENSG00000094914 Achalasia-addisonianism-alacrimia syndrome, 231550 (3), Autosomal recessive Aaas (MGI:2443767)
chr12 53326574 53344792 12q13.13 12q13.13 606633 SP7, OSX, OI12 Transcription factor Sp7 SP7 121340 ENSG00000170374 mutation identified in 1 OI12 patient ?Osteogenesis imperfecta, type XII, 613849 (3), Autosomal recessive Sp7 (MGI:2153568)
chr12 53380194 53416445 12q13.1 12q13.13 189906 SP1 Sp1 transcription factor SP1 6667 ENSG00000185591 Sp1 (MGI:98372)
chr12 53423854 53431671 12q13 12q13.13 600956 AMHR2, AMHR Anti-Mullerian hormone receptor, type II AMHR2 269 ENSG00000135409 Persistent Mullerian duct syndrome, type II, 261550 (3), Autosomal recessive Amhr2 (MGI:105062)
chr12 53441648 53446642 12q13.13 12q13.13 610459 PRR13, TXR1 Proline-rich protein 13 PRR13 54458 ENSG00000205352
chr12 53452101 53481161 12q13.12-q13.13 12q13.13 601210 PCBP2 Poly(rC)-binding protein-2 PCBP2 5094 ENSG00000197111 Pcbp2 (MGI:108202)
chr12 53479668 53501204 12q13 12q13.13 600447 MAP3K12, ZPK Mitogen-activated protein kinase kinase kinase 12 MAP3K12 7786 ENSG00000139625 Map3k12 (MGI:1346881)
chr12 53500920 53506430 12p12.1-q13.1 12q13.13 605053 TARBP2 TAR RNA-binding protein 2 TARBP2 6895 ENSG00000139546 pseudogene on 8q22-qter Tarbp2 (MGI:103027)
chr12 53507855 53626414 Chr.12 12q13.13 606371 ATF7 Activating transcription factor 7 ATF7 11016 ENSG00000170653 Atf7 (MGI:2443472)
chr12 53665159 53677545 Chr.12 12q13.13 603193 ATP5G2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C, isoform 2 ATP5MC2 517 ENSG00000135390 Atp5g2 (MGI:1915192)
chr12 53938791 53946543 12q13 12q13.13 142976 HOXC13, HOX3G, ECTD9 Homeo box-C13 HOXC13 3229 ENSG00000123364 fused with NUP98 in AML Ectodermal dysplasia 9, hair/nail type, 614931 (3), Autosomal recessive Hoxc13 (MGI:99560)
chr12 53954867 53956605 12q13 12q13.13 142975 HOXC12, HOX3F Homeo box-C12 HOXC12 3228 ENSG00000123407 Hoxc12 (MGI:96194)
chr12 53962307 53974955 12q13.13 12q13.13 611400 HOTAIR Hox transcript antisense RNA HOTAIR 100124700
chr12 53973125 53976418 Chr.12 12q13.13 605559 HOXC11 Homeo box-C11 HOXC11 3227 ENSG00000123388 Hoxc11 (MGI:96193)
chr12 53985161 53990278 Chr.12 12q13.13 605560 HOXC10 Homeo box-C10 HOXC10 3226 ENSG00000180818 Hoxc10 (MGI:96192)
chr12 53991737 53991846 12q13 12q13.13 609687 MIR196A2, MIRN196A2 Micro RNA 196A2 MIR196A2 406973
chr12 54000118 54003336 12q13 12q13.13 142971 HOXC9, HOX3B Homeo box-C9 HOXC9 3225 ENSG00000180806 Hoxc9 (MGI:96199)
chr12 54009105 54012762 12q13 12q13.13 142970 HOXC8, HOX3A Homeo box-C8 HOXC8 3224 ENSG00000037965 Hoxc8 (MGI:96198)
chr12 54016851 54056029 12q13 12q13.13 142974 HOXC4, HOX3E Homeo box-C4 HOXC4 3221 ENSG00000198353 Hoxc4 (MGI:96195)
chr12 54016851 54035360 12q13 12q13.13 142973 HOXC5, HOX3D Homeo box-C5 HOXC5 3222 ENSG00000172789 Hoxc5 (MGI:96196)
chr12 54016851 54030822 12q13 12q13.13 142972 HOXC6, HOX3C Homeo box-C6 HOXC6 3223 ENSG00000197757 Hoxc6 (MGI:96197)
chr12 54121273 54188993 12q 12q13.13 607753 SMUG1 Single-strand-selective monofunctional uracil-DNA glycosylase 1 SMUG1 23583 ENSG00000123415 Smug1 (MGI:1918976)
chr12 54230945 54280130 12q13.13 12q13.13 604478 CBX5, HP1 Chromobox homolog 5 CBX5 23468 ENSG00000094916 Cbx5 (MGI:109372)
chr12 54280689 54287087 12q13.1 12q13.13 164017 HNRNPA1, IBMPFD3, ALS20 Heterogeneous nuclear ribonucleoprotein A1 HNRNPA1 3178 ENSG00000135486 mutation identified in 1 family with IBMPFD3 Amyotrophic lateral sclerosis 20, 615426 (3), Autosomal dominant; ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3), Autosomal dominant
chr12 54292106 54301036 12q13 12q13.13 601490 NFE2 Nuclear factor, erythroid-derived 2, 45kD NFE2 4778 ENSG00000123405 Nfe2 (MGI:97308)
chr12 54325089 54351850 12q13.13 12q13.13 615472 COPZ1, COPZ Coatomer protein complex, subunit zeta-1 COPZ1 22818 ENSG00000111481 Copz1 (MGI:1929063)
chr12 54337215 54337313 12q13.13 12q13.13 613787 MIR148B, MIRN148B Micro RNA 148B MIR148B 442892
chr12 54362444 54365223 12q13.13 12q13.13 606383 GPR84 G protein-coupled receptor 84 GPR84 53831 ENSG00000139572 Gpr84 (MGI:1934129)
chr12 54369128 54391609 12q13.13 12q13.13 609124 ZNF385A, ZNF385, RZF, HZF Zinc finger protein 385A ZNF385A 25946 ENSG00000161642 Zfp385a (MGI:1352495)
chr12 54395260 54419265 12q11-q13 12q13.13 135620 ITGA5, FNRA, VLA5A Integrin, alpha-5 (fibronectin receptor, alpha subunit; very late activation protein-5, alpha subunit) ITGA5 3678 ENSG00000161638 Itga5 (MGI:96604)
chr12 54455951 54473601 12q13.2 12q13.13 617484 GTSF1, FAM112B Gametocyte-specific factor 1 GTSF1 121355 ENSG00000170627 Gtsf1 (MGI:1921424)
chr12 54497710 54543114 12q13.1 12q13.1-q13.2 141180 HEM1 Hematopoietic protein-1 NCKAP1L 3071 ENSG00000123338 Nckap1l (MGI:1926063)
chr12 54549392 54579238 12q13 12q13.2 171891 PDE1B1, PDES1B, PDE1B Phosphodiesterase-1B PDE1B 5153 ENSG00000123360 Pde1b (MGI:97523)
chr12 54579239 54588658 12q13.2 12q13.2 613246 PPP1R1A, IPP1, I1 Protein phosphatase 1, regulatory subunit 1A PPP1R1A 5502 ENSG00000135447 Ppp1r1a (MGI:1889595)
chr12 54630838 54634878 12q13 12q13.2 607360 LACRT Lacritin LACRT 90070 ENSG00000135413
chr12 54644590 54648492 12q13.1 12q13.2 606634 DCD Dermcidin DCD 117159 ENSG00000161634
chr12 54854514 54858392 12q13.2 12q13.2 610857 SBEM Small breast epithelial mucin MUCL1 118430 ENSG00000172551
chr12 54948018 54984745 12q13.2 12q13.2 615664 TESPA1, KIAA0748 Thymocyte-expressed positive selection-associated protein 1 TESPA1 9840 ENSG00000135426 Tespa1 (MGI:1914846)
chr12 55019944 55030016 12q13 12q13.2 611635 NEUROD4, MATH3 Neurogenic differentiation 4 NEUROD4 58158 ENSG00000123307 Neurod4 (MGI:108055)
chr12 55684567 55716036 12q13 12q13.2 600536 ITGA7 Integrin, alpha-7 ITGA7 3679 ENSG00000135424 Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3), Autosomal recessive Itga7 (MGI:102700)
chr12 55716033 55719706 12q13-q14 12q13.2 601444 GCN5L1 GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1 BLOC1S1 2647 ENSG00000135441 Bloc1s1 (MGI:1195276)
chr12 55720366 55724741 12q13-q14 12q13.2 601617 RDH5 Retinol dehydrogenase-5 RDH5 5959 ENSG00000135437 Fundus albipunctatus, 136880 (3), Autosomal recessive, Autosomal dominant Rdh5 (MGI:1201412)
chr12 55725442 55729672 12q12-q13 12q13.2 155740 CD63, MLA1 CD63 antigen (melanoma 1 antigen) CD63 967 ENSG00000135404 Cd63 (MGI:99529)
chr12 55743277 55757193 12q13.13 12q13.2 603936 GDF11, BMP11 Growth/differentiation factor 11 GDF11 10220 ENSG00000135414 Gdf11 (MGI:1338027)
chr12 55752462 55817755 12q13 12q13.2 610049 SARNP, CIP29, HCC1, HSPC316 SAP domain-containing ribonucleoprotein SARNP 84324 ENSG00000205323 fused with MLL in AML Sarnp (MGI:1913368)
chr12 55818021 55821174 12q13.2 12q13.2 610074 ORMDL2 ORM1-like protein 2 ORMDL2 29095 ENSG00000123353 pseudogene on 8q22.1 Ormdl2 (MGI:1914094)
chr12 55820959 55829635 12q13.1-q13.2 12q13.2 606092 DRIP78, HDJ3 Dopamine receptor-interacting protein, 78kD DNAJC14 85406 ENSG00000135392 Dnajc14 (MGI:1921580)
chr12 55835429 55842982 12q14 12q13.2 601807 MMP19, MMP18, CODA Matrix metalloproteinase-19 MMP19 4327 ENSG00000123342 triplication in upstream regulatory region Cavitary optic disc anomalies, 611543 (3), Autosomal dominant Mmp19 (MGI:1927899)
chr12 55931090 55954022 12q13.3 12q13.2 125855 DGKA, DAGK1 Diacylglycerol kinase, alpha, 80kD DGKA 1606 ENSG00000065357 Dgka (MGI:102952)
chr12 55954104 55966711 12q13-q14 12q13.2 155550 SILV, D12S53E, PMEL17 Silver, mouse, homolog of PMEL 6490 ENSG00000185664 Pmel (MGI:98301)
chr12 55966768 55972788 12q13 12q13.2 116953 CDK2 Cyclin-dependent kinase 2 CDK2 1017 ENSG00000123374 Cdk2 (MGI:104772)
chr12 55973912 55996682 12q13 12q13.2 179514 RAB5B Ras-associated protein RAB5B RAB5B 5869 ENSG00000111540 Rab5b (MGI:105938)
chr12 55992546 56005524 Chr.12 12q13.2 606887 SUOX Sulfite oxidase SUOX 6821 ENSG00000139531 Sulfite oxidase deficiency, 272300 (3), Autosomal recessive Suox (MGI:2446117)
chr12 56007646 56038434 12q13 12q13.2 606239 IKZF4, ZNFN1A4, EOS, KIAA1782 Ikaros family zinc finger 4 IKZF4 64375 ENSG00000123411 Ikzf4 (MGI:1343139)
chr12 56041854 56044696 12q 12q13.2 603701 RPS26, DBA10 Ribosomal protein S26 RPS26 6231 ENSG00000197728 Diamond-Blackfan anemia 10, 613309 (3), Autosomal dominant Rps26 (MGI:1351628)
chr12 56080024 56103506 12q13 12q13.2 190151 ERBB3, LCCS2 Transformation gene ERBB-3 ERBB3 2065 ENSG00000065361 Lethal congenital contractural syndrome 2, 607598 (3), Autosomal recessive Erbb3 (MGI:95411)
chr12 56104318 56113909 12q13 12q13.2 602145 PA2G4 Proliferation-associated 2G4, 38kD PA2G4 5036 ENSG00000170515 family of genes on 7 chromosomes Pa2g4 (MGI:894684)
chr12 56116589 56117831 12q13.2 12q13.2 613315 RPL41, HG12 Ribosomal protein L41 RPL41 6171 ENSG00000229117
chr12 56128201 56144675 12q13.2 12q13.2 616670 ESYT1, MBC2, FAM62A Extended synaptotagmin-like protein 1 ESYT1 23344 ENSG00000139641 Esyt1 (MGI:1344426)
chr12 56152419 56157986 12q13.13 12q13.2 609930 MYL6B, MLC1SA Myosin, light chain 6B, alkali, smooth muscle and nonmuscle, slow MYL6B 140465 ENSG00000196465 Myl6b (MGI:1917789)
chr12 56158260 56161581 12q13.2 12q13.2 609931 MYL6 Myosin light chain 6, alkali, smooth muscle and nonmuscle MYL6 4637 ENSG00000092841 Myl6 (MGI:109318)
chr12 56162358 56189573 12q13-q14 12q13.2 601734 SMARCC2, BAF170 SW1/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 SMARCC2 6601 ENSG00000139613 Smarcc2 (MGI:1915344)
chr12 56200000 57700000 12q13.3 614375 AAA4 Aortic aneurysm, familial abdominal, 4 100859927 associated with rs1466535 Aortic aneurysm, familial abdominal, 4, 614375 (2)
chr12 56222011 56229857 12q13.3 12q13.3 612104 OBFC2B, SSB1 Oligonucleotide/oligosaccharide-binding fold-containing protein 2B NABP2 79035 ENSG00000139579 Nabp2 (MGI:1917167)
chr12 56230035 56237849 12q13.3 12q13.3 608730 SLC39A5, MYP24 Solute carrier family 39 (zinc transporter), member 5 SLC39A5 283375 ENSG00000139540 Myopia 24, autosomal dominant, 615946 (3), Autosomal dominant Slc39a5 (MGI:1919336)
chr12 56271698 56300390 12q13.2-q13.3 12q13.3 118950 CS Citrate synthase, mitochondrial CS 1431 ENSG00000062485 Cs (MGI:88529)
chr12 56309841 56316347 12q15 12q13.3 605861 CNPY4, TMEM4, MSAP Canopy 2, zebrafish, homolog of CNPY2 10330 ENSG00000257727 Cnpy2 (MGI:1928477)
chr12 56316222 56334052 12q13.3 12q13.3 617447 PAN2, USP52, KIAA0710 PABP-dependent poly(A) nuclease 2 PAN2 9924 ENSG00000135473 Pan2 (MGI:1918984)
chr12 56334158 56340409 12q13.2 12q13.3 605580 IL23A, SGRF, P19, IL23P19 Interleukin 23, p19 subunit IL23A 51561 ENSG00000110944 Il23a (MGI:1932410)
chr12 56341596 56360252 12q13.2 12q13.3 600556 STAT2, IMD44 Signal transducer and activator of transcription 2 STAT2 6773 ENSG00000170581 Immunodeficiency 44, 616636 (3), Autosomal recessive Stat2 (MGI:103039)
chr12 56360570 56362798 12q13.3 12q13.3 107760 APOF, LTIP Apolipoprotein F APOF 319 ENSG00000175336 Apof (MGI:104539)
chr12 56416372 56449464 12q12-q13 12q13.3 603887 TIMELESS, TIM, TIM1 Timeless, Drosophila, homolog of TIMELESS 8914 ENSG00000111602 Timeless (MGI:1321393)
chr12 56449501 56456552 12q13 12q13.3 154050 MIP, AQP0, CTRCT15 Major intrinsic protein of lens fiber MIP 4284 ENSG00000135517 slightly distal to AQP2 Cataract 15, multiple types, 615274 (3), Autosomal dominant Mip (MGI:96990)
chr12 56470943 56488413 12q13 12q13.3 606365 GLS2, GA Glutaminase, liver GLS2 27165 ENSG00000135423 Gls2 (MGI:2143539)
chr12 56520405 56596195 12q13.3 12q13.3 602387 RBMS2, SCR3 RNA-binding motif protein, single strand interacting, 2 RBMS2 5939 ENSG00000076067 Rbms2 (MGI:1861776)
chr12 56595595 56636815 12q24.3-qter 12q13.3 605682 BAZ2A Bromodomain adjacent to zinc finger domain, 2A BAZ2A 11176 ENSG00000076108 Baz2a (MGI:2151152)
chr12 56638174 56646067 12p13-qter 12q13.3 102910 ATP5B, ATPSB ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide ATP5F1B 506 ENSG00000110955 Atp5b (MGI:107801)
chr12 56663340 56689574 12q13.3 12q13.3 607061 PTGES3, P23, CPGES Prostaglandin E synthase 3 PTGES3 10728 ENSG00000110958 Ptges3,Ptges3-ps (MGI:1929282,MGI:3704271)
chr12 56712426 56726274 12q23-q24.1 12q13.3 601234 NACA Nascent-polypeptide-associated complex alpha polypeptide NACA 4666 ENSG00000196531 Naca (MGI:106095)
chr12 56731579 56752361 12q13 12q13.3 176635 PRIM1 Primase, polypeptide-1, 49kD PRIM1 5557 ENSG00000198056 Prim1 (MGI:97757)
chr12 56752448 56787789 12q13 12q13.3 606623 HSE 3-alpha-hydroxysteroid epimerase HSD17B6 8630 ENSG00000025423 Hsd17b6 (MGI:1351670)
chr12 56923153 56934404 12q13.3 12q13.3 609769 SDR9C7, SDRO, ARCI13 Short chain dehydrogenase/reductase family 9C member 7 SDR9C7 121214 ENSG00000170426 Ichthyosis, congenital, autosomal recessive 13, 617574 (3), Autosomal recessive Sdr9c7 (MGI:1917311)
chr12 57009996 57016559 12q13-q21 12q13.3 162330 TAC3, NKNB, HH10 Tachykinin 3 (neuromedin K, neurokinin B) TAC3 6866 ENSG00000166863 Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3), Autosomal recessive Tac2 (MGI:98476)
chr12 57028516 57050764 12q13-q15 12q13.3 601478 MYO1A Myosin IA MYO1A 4640 ENSG00000166866 Myo1a (MGI:107732)
chr12 57055642 57088702 12q13.3 12q13.3 616496 NEMP1, TMEM194A Nuclear envelope integral membrane protein 1 NEMP1 23306 ENSG00000166881 Nemp1 (MGI:2446113)
chr12 57088893 57095475 12q13.3-q14.1 12q13.3 602381 NAB2 NGFIA-binding protein-2 NAB2 4665 ENSG00000166886 Nab2 (MGI:107563)
chr12 57095403 57111412 12q13 12q13.3 601512 STAT6 Signal transducer and activator of transcription-6, interleukin-4 induced STAT6 6778 ENSG00000166888 Stat6 (MGI:103034)
chr12 57128400 57213376 12q13.1-q13.3 12q13.3 107770 LRP1, A2MR, KPA Low density lipoprotein-related protein-1 (alpha-2-macroglobulin receptor) LRP1 4035 ENSG00000123384 mutation identified in 1 KPA family ?Keratosis pilaris atrophicans, 604093 (3), Autosomal recessive Lrp1 (MGI:96828)
chr12 57216794 57226448 12q13.3 12q13.3 604637 NXPH4, NPH4 Neuroexophilin 4 NXPH4 11247 ENSG00000182379 Nxph4 (MGI:1336197)
chr12 57229572 57234934 12q13 12q13.3 138450 SHMT2, GLYA Serine hydroxymethyltransferase SHMT2 6472 ENSG00000182199 glycine A auxotroph Shmt2 (MGI:1277989)
chr12 57243452 57251192 12q13.3 12q13.3 615521 STAC3, NAM SH3 and cystein-rich domains 3 STAC3 246329 ENSG00000185482 Native American myopathy, 255995 (3), Autosomal recessive Stac3 (MGI:3606571)
chr12 57434684 57452061 12q13.1 12q13.3 601233 INHBC Inhibin, beta C INHBC 3626 ENSG00000175189 Inhbc (MGI:105932)
chr12 57455290 57458012 12q13.3 12q13.3 612031 INHBE Inhibin, beta E INHBE 83729 ENSG00000139269 Inhbe (MGI:109269)
chr12 57460134 57472450 12q13.2-q13.3 12q13.3 165220 GLI Glioma-associated oncogene homolog (zinc finger protein) GLI1 2735 ENSG00000111087 Gli1 (MGI:95727)
chr12 57472254 57488813 12q14 12q13.3 610576 ARHGAP9 Rho GTPase-activating protein 9 ARHGAP9 64333 ENSG00000123329 Arhgap9 (MGI:2143764)
chr12 57487952 57516654 12q13.3 12q13.3 156560 MARS, MTRNS, METRS, ILLD, CMT2U Methioninyl-tRNA synthetase MARS 4141 ENSG00000166986 Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3), Autosomal dominant; Interstitial lung and liver disease, 615486 (3), Autosomal recessive Mars (MGI:1345633)
chr12 57516587 57520516 12q13.1-q13.2 12q13.3 126337 DDIT3, GADD153, CHOP10 DNA-damage-inducible transcript-3 DDIT3 1649 ENSG00000175197 fused with FUS in myxoid liposarcoma Myxoid liposarcoma, 613488 (1) Ddit3 (MGI:109247)
chr12 57519162 57519258 12q13.3 12q13.3 614489 MIR616 Micro RNA 616 MIR616 693201
chr12 57530049 57547330 12q13.3 12q13.3 607376 DCTN2, DCTN50 Dynactin 2 DCTN2 10540 ENSG00000175203 Dctn2 (MGI:107733)
chr12 57549991 57586632 12q13 12q13.3 602821 KIF5A, NKHC, SPG10, NEIMY, ALS25 Kinesin family member 5A KIF5A 3798 ENSG00000155980 {Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921 (3), Autosomal dominant; Myoclonus, intractable, neonatal, 617235 (3), Autosomal dominant; Spastic paraplegia 10, autosomal dominant, 604187 (3), Autosomal dominant Kif5a (MGI:109564)
chr12 57591158 57603427 12q13.3 12q13.3 617104 PIP4K2C, PIP5K2C Phosphatidylinositol 5-phosphate 4-kinase, type II, gamma PIP4K2C 79837 ENSG00000166908 Pip4k2c (MGI:2152214)
chr12 57604326 57609803 12q13.3 12q13.3 613142 DTX3 Deltex, Drosophila, homolog of, 3 DTX3 196403 ENSG00000178498 Dtx3 (MGI:2135752)
chr12 57610179 57617244 12q13.11 12q13.3 610215 ARHGEF25, GEFT Rho guanine nucleotide exchange factor 25 ARHGEF25 115557 ENSG00000240771 Arhgef25 (MGI:1277173)
chr12 57623408 57633238 12q13.3 12q13.3 601873 B4GALNT1, GALGT, GALNACT, SPG26 Beta-1,4-N-acetylgalactosaminyltransferase 1 B4GALNT1 2583 ENSG00000135454 Spastic paraplegia 26, autosomal recessive, 609195 (3), Autosomal recessive B4galnt1 (MGI:1342057)
chr12 57693954 57721556 12q13 12q13.3-q14.1 609677 OS9 Amplified in osteosarcoma 9 OS9 10956 ENSG00000135506 Os9 (MGI:1924301)
chr12 57700000 67300000 12q14 177700 GLC1P Glaucoma 1, open angle, P caused by 300kb duplication Glaucoma 1, open angle, P, 177700 (4), Autosomal dominant
chr12 57700000 67300000 12q14 614354 PRO2268 PRO2268 gene 55390
chr12 57723764 57742200 12q14.1 12q14.1 605476 AGAP2, CENTG1, PIKE ARF-GAP with GTP-binding protein-like, ankyrin repeat, and pleckstrin homology domains 2 AGAP2 116986 ENSG00000135439 Agap2 (MGI:3580016)
chr12 57744988 57748242 12q13-q14 12q14.1 181035 TSPAN31, SAS Tetraspanin 31 TSPAN31 6302 ENSG00000135452 Tspan31 (MGI:1914375)
chr12 57747726 57752446 12q14 12q14.1 123829 CDK4, CMM3 Cyclin-dependent kinase 4 CDK4 1019 ENSG00000135446 {Melanoma, cutaneous malignant, 3}, 609048 (3), Autosomal dominant Cdk4 (MGI:88357)
chr12 57755097 57760409 12q14.1 12q14.1 613336 MARCH9 Membrane-associated RING-CH finger protein 9 MARCH9 92979 ENSG00000139266 March9 (MGI:2446144)
chr12 57762333 57767192 12q13.1-q13.3 12q14.1 609506 CYP27B1, VDD1, PDDR Cytochrome P450, subfamily XXVIIB, polypeptide 1 CYP27B1 1594 ENSG00000111012 Vitamin D-dependent rickets, type I, 264700 (3), Autosomal recessive Cyp27b1 (MGI:1098274)
chr12 57768567 57772130 12q13 12q14.1 604466 METTL1 Methyltransferase-like 1 METTL1 4234 ENSG00000037897 Mettl1 (MGI:1339986)
chr12 57772599 57782540 12q14.1 12q14.1 615258 EEF1AKMT3, METTL21B, FAM119B EEF1A lysine methyltransferase 3 EEF1AKMT3 25895 ENSG00000123427 Eef1akmt3 (MGI:3645330)
chr12 57782744 57802855 12q13-q14 12q14.1 604723 TSFM, COXPD3 Ts translation elongation factor, mitochondrial TSFM 10102 ENSG00000123297 Combined oxidative phosphorylation deficiency 3, 610505 (3), Autosomal recessive Tsfm (MGI:1913649)
chr12 57797375 57818703 12q14 12q14.1 613397 AVIL Advillin AVIL 10677 ENSG00000135407 Avil (MGI:1333798)
chr12 57824608 57824691 12q14.1 12q14.1 613057 MIR26A2, MIRN26A2 Micro RNA 26A2 MIR26A2 407016
chr12 58872154 58920537 12q13.2 12q14.1 608870 LIRG3, LIG3 Leucine-rich repeats- and immunoglobulin-like domains-containing protein 3 LRIG3 121227 ENSG00000139263 Lrig3 (MGI:2443955)
chr12 59595933 59789854 12q13 12q14.1 603654 SLC16A7, MCT2 Solute carrier family 16 (monocarboxylic acid transporters), member 7 SLC16A7 9194 ENSG00000118596 Slc16a7 (MGI:1330284)
chr12 61708247 62260103 12q14.1 12q14.1 617496 FAM19A2, TAFA2 Family with sequence similarity 19, member A2, CC motif chemokine-like FAM19A2 338811 ENSG00000198673 Fam19a2 (MGI:2143691)
chr12 62260339 62409720 12q14.1 12q14.1 604731 USP15 Ubiquitin-specific protease 15 USP15 9958 ENSG00000135655 Usp15 (MGI:101857)
chr12 62466816 62598955 12q14.1 12q14.1 616822 MON2, KIAA1040 Mon2, S. cerevisiae, homolog of MON2 23041 ENSG00000061987 Mon2 (MGI:1914324)
chr12 62603685 62603768 12q14.1 12q14.1 612148 MIRLET7I, LET7I, MIRNLET7I Micro RNA Let7i MIRLET7I 406891
chr12 62643981 62934884 12q14.1-q14.2 12q14.1-q14.2 616016 PPM1H, KIAA1157 Protein phosphatase, magnesium/manganese-dependent, 1H PPM1H 57460 ENSG00000111110 Ppm1h (MGI:2442087)
chr12 62700000 64700000 12q14.2 610908 AUTS13 Autism, susceptibility to, 13 100188317 linkage with rs1445442 {Autism susceptibility 13}, 610908 (2)
chr12 63142758 63152809 12q14-q15 12q14.2 600821 AVPR1A Arginine vasopressin receptor-1A AVPR1A 552 ENSG00000166148 Avpr1a (MGI:1859216)
chr12 63558912 63669200 12q14.2 12q14.2 613893 DPY19L2, SPGF9 DPY19-like 2 DPY19L2 283417 ENSG00000177990 pseudogene on 7p14.3 Spermatogenic failure 9, 613958 (3), Autosomal recessive Dpy19l2 (MGI:2444662)
chr12 63779802 63809557 12q14.2 12q14.2 605862 RXYLT1, TMEM5, MDDGA10 Ribitol xylosyltransferase 1 RXYLT1 10329 ENSG00000118600 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3), Autosomal recessive Tmem5 (MGI:2384919)
chr12 63843910 64147862 12q14.2 12q14.2 606523 SRGAP1, KIAA1304, NMTC2 Slit-robo GTPase-activating protein, rho, 1 SRGAP1 57522 ENSG00000196935 {Thyroid cancer, nonmedullary, 2}, 188470 (3), Autosomal dominant Srgap1 (MGI:2152936)
chr12 64186311 64222295 12q14.2 12q14.2 617420 C12orf66 Chromosome 12 open reading frame 66 C12orf66 144577 ENSG00000174206 BC048403 (MGI:2670984)
chr12 64452059 64502118 12q14.2 12q14.2 604834 TBK1, NAK, FTDALS4, IIAE8 TANK-binding kinase 1 TBK1 29110 ENSG00000183735 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (3), Autosomal dominant; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3), Autosomal dominant Tbk1 (MGI:1929658)
chr12 64610512 64697566 12q14.1 12q14.2 607019 RASSF3 Ras association domain family protein 3 RASSF3 283349 ENSG00000153179 Rassf3 (MGI:2179722)
chr12 64700000 67300000 12q14.3 611547 STQTL9 Stature quantitative trait locus 9 associated with rs1042725 {Stature QTL 9}, 611547 (2)
chr12 64713441 64759445 12q14 12q14.3 607664 GNS, G6S N-acetylglucosamine-6-sulfatase GNS 2799 ENSG00000135677 Mucopolysaccharidosis type IIID, 252940 (3), Autosomal recessive Gns (MGI:1922862)
chr12 64759496 64881021 12q14.3 12q14.3 615077 TBC1D30, KIAA0984 TBC1 domain family, member 30 TBC1D30 23329 ENSG00000111490 Tbc1d30 (MGI:1921944)
chr12 65050623 65121565 Chr.12 12q14.3 605186 WIF1 WNT inhibitory factor 1 WIF1 11197 ENSG00000156076 Wif1 (MGI:1344332)
chr12 65169570 65248360 12q14 12q14.3 607844 LEMD3, MAN1 LEM domain-containing 3 LEMD3 23592 ENSG00000174106 Buschke-Ollendorff syndrome, 166700 (3), Autosomal dominant; Osteopoikilosis with or without melorheostosis, 166700 (3), Autosomal dominant Lemd3 (MGI:3580376)
chr12 65278592 65466906 12q14.3 12q14.3 613719 MSRB3, DFNB74 Methionine sulfoxide reductase B3 MSRB3 253827 ENSG00000174099 Deafness, autosomal recessive 74, 613718 (3), Autosomal recessive Msrb3 (MGI:2443538)
chr12 65824459 65966290 12q14.3 12q14.3 600698 HMGA2, HMGIC, BABL High-mobility group AT-hook 2 HMGA2 8091 ENSG00000149948 fusion partners with RAD51B, ALDH2, COX6C, HEI10 in uterine leiomyomas Leiomyoma, uterine, somatic, 150699 (1)
chr12 66123068 66130752 12q14.3 12q14.3 616998 LLPH LLP, Aplysia, homolog of LLPH 84298 ENSG00000139233 Llph-ps1,Llph-ps2,Llph (MGI:3649506,MGI:1913475,MGI:3642864)
chr12 66136935 66170071 12q14.3 12q14.3 616874 TMBIM4, GAAP Transmembrane BAX inhibitor motif-containing protein 4 TMBIM4 51643 ENSG00000155957 Tmbim4 (MGI:1915462)
chr12 66189197 66254621 12q14.3 12q14.3 604459 IRAK3, IRAKM, ASRT5 Interleukin 1 receptor-associated kinase 3 IRAK3 11213 ENSG00000090376 {Asthma susceptibility 5}, 611064 (3) Irak3 (MGI:1921164)
chr12 66302544 66343642 12q13 12q14.3 614539 HELB, HDHB Helicase, DNA, B HELB 92797 ENSG00000127311 Helb (MGI:2152895)
chr12 66347430 67069264 12q14.3 12q14.3 604597 GRIP1, FRASRS3 Glutamate receptor-interacting protein 1 GRIP1 23426 ENSG00000155974 Fraser syndrome 3, 617667 (3), Autosomal recessive Grip1 (MGI:1921303)
chr12 67269280 67314691 12q14.3-q15 12q14-q15 607727 CAND1, TIP120A, TIP120, KIAA0829 Cullin-associated neddylation-dissociated protein 1 CAND1 55832 ENSG00000111530 Cand1 (MGI:1261820)
chr12 67300000 71100000 12q15 612639 IBD26 Inflammatory bowel disease 26 100271838 associated with rs1558744 {Inflammatory bowel disease 26}, 612639 (2)
chr12 67648731 67665404 12q14 12q15 603496 DYRK2 Dual-specificity tyrosine phosphorylation-regulated kinase 2 DYRK2 8445 ENSG00000127334 Dyrk2 (MGI:1330301)
chr12 68154769 68159740 12q14 12q15 147570 IFNG, IFG, IFI Interferon, gamma IFNG 3458 ENSG00000111537 3 introns; none in IFF, IFL {AIDS, rapid progression to}, 609423 (3); {Aplastic anemia}, 609135 (3); {Hepatitis C virus, response to therapy of}, 609532 (3); {TSC2 angiomyolipomas, renal, modifier of}, 613254 (3), Autosomal dominant; {Tuberculosis, protection against}, 607948 (3) Ifng (MGI:107656)
chr12 68201348 68225790 12q15 12q15 605679 IL26, AK155 Interleukin 26 IL26 55801 ENSG00000111536
chr12 68248244 68253500 12q15 12q15 605330 IL22, IL21, ILTIF Interleukin 22 IL22 50616 ENSG00000127318 Il22,Iltifb (MGI:1355307,MGI:2151139)
chr12 68294565 68332413 12q15 12q15 613813 MDM1 Mouse double minute 1 homolog MDM1 56890 ENSG00000111554 Mdm1 (MGI:96951)
chr12 68610838 68660604 12q14 12q15 179530 RAP1B RAS-related protein RAP1B RAP1B 5908 ENSG00000127314 Rap1b (MGI:894315)
chr12 68686950 68745813 12q15 12q15 607617 NUP107, NUP84, NPHS11 Nucleoporin, 107kD NUP107 57122 ENSG00000111581 Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive Nup107 (MGI:2143854)
chr12 68808148 68845543 12q14.3-q15 12q15 164785 MDM2, ACTFS Mouse double minute 2, homolog of (p53-binding protein) MDM2 4193 ENSG00000135679 {Accelerated tumor formation, susceptibility to}, 614401 (3) Mdm2 (MGI:96952)
chr12 68842192 68963239 12q15 12q15 114860 CPM Carboxypeptidase M CPM 1368 ENSG00000135678 Cpm (MGI:1917824)
chr12 69239536 69274357 Chr.12 12q15 604979 CPSF6, CFIM Cleavage and polyadenylation specific factor 6, 68kD subunit CPSF6 11052 ENSG00000111605 Cpsf6 (MGI:1913948)
chr12 69348353 69354232 12q15 12q15 153450 LYZ Lysozyme LYZ 4069 ENSG00000090382 Amyloidosis, renal, 105200 (3), Autosomal dominant Lyz1,Lyz2 (MGI:96902,MGI:96897)
chr12 69359704 69427076 12q13-q15 12q15 602116 YEATS4, GAS41 YEATS domain-containing protein 4 YEATS4 8089 ENSG00000127337 Yeats4 (MGI:1927224)
chr12 69470348 69579792 12q15 12q15 607743 FRS2, FRS1A, SNT1 Fibroblast growth factor receptor substrate 2 FRS2 10818 ENSG00000166225 Frs2 (MGI:1100860)
chr12 69585427 69601576 Chr.12 12q15 605139 CCT2, CCTB Chaperonin containing T-complex polypeptide 1, subunit 2 CCT2 10576 ENSG00000166226 Cct2 (MGI:107186)
chr12 69608563 69611161 12q15 12q15 610846 LRRC10, HRLRRP Leucine-rich repeat-containing protein 10 LRRC10 376132 ENSG00000198812 Lrrc10 (MGI:2448063)
chr12 69643507 69738363 12q14.2-q15 12q15 607337 BEST3, VMD2L3 Bestrophin 3 BEST3 144453 ENSG00000127325 Best3 (MGI:3580298)
chr12 70242992 70354992 12q15 12q15 604909 CNOT2, NOT2 CCR4-NOT transcription complex, subunit 2 CNOT2 4848 ENSG00000111596 Cnot2 (MGI:1919318)
chr12 70366219 70434291 12q14.1-q15 12q15 605223 KCNMB4 Potassium large conductance calcium-activated channel, subfamily M, beta member 4 KCNMB4 27345 ENSG00000135643 Kcnmb4 (MGI:1913272)
chr12 70515870 70637439 12q15-q21 12q15 176882 PTPRB Protein tyrosine phosphatase, receptor type, beta polypeptide PTPRB 5787 ENSG00000127329 Ptprb (MGI:97809)
chr12 70638072 70920803 12q15 12q15 602853 PTPRR, PCPTP1 Protein-tyrosine phosphatase, receptor type, R PTPRR 5801 ENSG00000153233 Ptprr (MGI:109559)
chr12 71100000 108600000 12q21-q23 612715 DUH2 Dyschromatosis universalis hereditaria 2 100301525 between rs1921045 and rs2373584 Dyschromatosis universalis hereditaria 2, 612715 (2)
chr12 71100000 108600000 12q21-q23 603221 MYP3 Myopia, high grade, 3, autosomal dominant MYP3 8782 Myopia-3, 603221 (2), Autosomal dominant
chr12 71100000 92200000 12q21 169900 PEPB Peptidase B PEPB 5182
chr12 71125092 71157998 12q14.1-q21.1 12q21.1 600769 TSPAN8, TM4SF3 Tetraspanin 8 TSPAN8 7103 ENSG00000127324 Tspan8 (MGI:2384918)
chr12 71439769 71586309 12q15-q23 12q21.1 606667 GPR49, LGR5 G protein-coupled receptor-49 LGR5 8549 ENSG00000139292 Lgr5 (MGI:1341817)
chr12 71663896 71680647 12q21.1 12q21.1 612531 THAP2 THAP domain-containing protein 2 THAP2 83591 ENSG00000173451 Thap2 (MGI:1914066)
chr12 71754862 71793475 12q21.1 12q21.1 612398 RAB21, KIAA0118 RAB-associated protein RAB21 RAB21 23011 ENSG00000080371 Rab21 (MGI:894308)
chr12 71839706 71926848 12q21.1 12q21.1 612662 TBC1D15 TBC1 domain family, member 15 TBC1D15 64786 ENSG00000121749 Tbc1d15 (MGI:1913937)
chr12 71938845 72032440 12q21.1 12q21.1 607478 TPH2, NTPH, ADHD7 Tryptophan hydroxylase 2 TPH2 121278 ENSG00000139287 {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3); {Unipolar depression, susceptibility to}, 608516 (3) Tph2 (MGI:2651811)
chr12 72087287 72666661 12q15-q21 12q21.1 606950 TRHDE Thyrotropin-releasing hormone-degrading ectoenzyme TRHDE 29953 ENSG00000072657 Trhde (MGI:2384311)
chr12 74537770 74541451 12q21 12q21.1 615579 ATXN7L3B Ataxin 7-like 3B ATXN7L3B 552889 ENSG00000253719 Atxn7l3b (MGI:1914971)
chr12 75040077 75209747 12q21.1 12q21.1 176256 KCNC2 Potassium voltage-gated channel, Shaw-related subfamily, member 2 KCNC2 3747 ENSG00000166006 previously on 19q13.3-q13.4 Kcnc2 (MGI:96668)
chr12 75275978 75390936 12q15 12q21.1-q21.2 607724 CAPS2 Calcyphosine 2 CAPS2 84698 ENSG00000180881 Caps2 (MGI:2441980)
chr12 75331833 75370389 12q21 12q21.2 610395 GLIPR1L1 GLIPR1-like protein 1 GLIPR1L1 256710 ENSG00000173401 Glipr1l1,Glipr1l3 (MGI:1916536,MGI:3620621)
chr12 75391069 75432687 12q21 12q21.2 610394 GLIPR1L2 GLIPR1-like protein 2 GLIPR1L2 144321 ENSG00000180481 Glipr1l2 (MGI:1914787)
chr12 75480732 75501935 12q21 12q21.2 602692 GLIPR1, GLIPR, RTVP1 Glioma pathogenesis-related protein 1 GLIPR1 11010 ENSG00000139278 Glipr1 (MGI:1920940)
chr12 75497638 75511637 12q21.2 12q21.2 612817 KRR1 KRR1, yeast, homolog of KRR1 11103 ENSG00000111615 Krr1 (MGI:1289274)
chr12 76025446 76031775 12q15-q21.2 12q21.2 605335 PHLDA1, TDAG51 Pleckstrin homology-like domain, family A, member 1 PHLDA1 22822 ENSG00000139289 Phlda1 (MGI:1096880)
chr12 76044744 76085032 12q21.2 12q21.2 164060 NAP1L1, NAP1L Nucleosome assembly protein 1-like 1 NAP1L1 4673 ENSG00000187109 Nap1l1 (MGI:1855693)
chr12 76344485 76348441 12q21.2 12q21.2 610148 BBS10, C12orf58, FLJ23560 BBS10 gene BBS10 79738 ENSG00000179941 Bardet-Biedl syndrome 10, 615987 (3), Autosomal recessive Bbs10 (MGI:1919019)
chr12 76351796 76559808 12p 12q21.2 606736 OSBPL8, ORP8, KIAA1451 Oxysterol-binding protein-like protein 8 OSBPL8 114882 ENSG00000091039 Osbpl8 (MGI:2443807)
chr12 76764073 76853700 12q14-q15 12q21.2 607799 ZDHHC17, HIP14 Zinc finger DHHC domain-containing protein 17 ZDHHC17 23390 ENSG00000186908 Zdhhc17 (MGI:2445110)
chr12 76858714 76879039 12q21.1 12q21.2 601871 CSRP2, LMO5 Cysteine and glycine-rich protein-2 (LIM domain only 5, smooth muscle) CSRP2 1466 ENSG00000175183 pseudogene on 3q21.1 Csrp2 (MGI:1202907)
chr12 77021245 77065579 12q21.3 12q21.2 612046 E2F7 E2F transcription factor 7 E2F7 144455 ENSG00000165891 E2f7 (MGI:1289147)
chr12 77571855 78213011 12q21.1 12q21.2 611629 NAV3, POMFIl1, KIAA0938 Neuron navigator 3 NAV3 89795 ENSG00000067798 Nav3 (MGI:2183703)
chr12 78863992 79452007 12cen-q21 12q21.2 185605 SYT1 Synaptotagmin-1 SYT1 6857 ENSG00000067715 Syt1 (MGI:99667)
chr12 79584873 79691096 12q21 12q21.2 601936 PAWR, PAR4 PRKC, apoptosis, WT1, regulator PAWR 5074 ENSG00000177425 Pawr (MGI:2149961)
chr12 79773562 79935763 12q15-q21.2 12q21.2-q21.3 602021 PPP1R12A, MYPT1 Protein phosphatase 1, regulatory subunit 12A (myosin phosphatase target subunit 1) PPP1R12A 4659 ENSG00000058272 Ppp1r12a (MGI:1309528)
chr12 80130376 80379089 12q21.31 12q21.31 614925 OTOGL, C12orf64, DFNB84B Otogelin-like protein OTOGL 283310 ENSG00000165899 Deafness, autosomal recessive 84B, 614944 (3), Autosomal recessive Otogl (MGI:3647600)
chr12 80424260 80680272 12q21.2 12q21.31 603317 PTPRQ, PTPGMC1, DFNB84A, DFNA73 Protein-tyrosine phosphatase, receptor-type, Q PTPRQ 374462 ENSG00000139304 mutation identified in 1 DFNA73 family Deafness, autosomal dominant 73, 617663 (3), Autosomal dominant; Deafness, autosomal recessive 84A, 613391 (3), Autosomal recessive Ptprq (MGI:1096349)
chr12 80707628 80709477 12q21 12q21.31 159991 MYF6, CNM3 Myogenic factor-6 MYF6 4618 ENSG00000111046 6.5kb upstream from MYF5; both prob. 12q15, by H Centronuclear myopathy 3, 614408 (3), Autosomal dominant Myf6 (MGI:97253)
chr12 80716928 80719667 12q21 12q21.31 159990 MYF5 Myogenic factor-5 MYF5 4617 ENSG00000111049 Myf5 (MGI:97252)
chr12 80792519 80937914 12q21.31 12q21.31 603380 LIN7A, VELI1, MALS1 Lin7, C. elegans, homolog of, A LIN7A 8825 ENSG00000111052 Lin7a (MGI:2135609)
chr12 81078017 81256758 12q21.31 12q21.31 614356 ACSS3 Acyl-CoA synthetase short-chain family, member 3 ACSS3 79611 ENSG00000111058 Acss3 (MGI:2685720)
chr12 82686951 83134867 12q21.31 12q21.31 615856 TMTC2 Transmembrane and tetratricopeptide repeat domains-containing protein 2 TMTC2 160335 ENSG00000179104 Tmtc2 (MGI:1914057)
chr12 84859487 84912828 12q21.3-q21.4 12q21.31 607971 SLC6A15, SBAT1 Solute carrier family 6 (neurotransmitter transporter), member 15 SLC6A15 55117 ENSG00000072041 Slc6a15 (MGI:2143484)
chr12 85280257 85301783 12q21.3-q22 12q21.31 601527 ALX1, CART1, FND3 Aristaless-like homeobox 1 (cartilage homeoprotein 1) ALX1 8092 ENSG00000180318 mutation identified in 1 FND3 patient ?Frontonasal dysplasia 3, 613456 (3) Alx1 (MGI:104621)
chr12 85800702 85836539 12q21.31 12q21.31 610383 RASSF9, PAMCI, PCIP1 Ras association domain family, member 9 RASSF9 9182 ENSG00000198774 Rassf9 (MGI:2384307)
chr12 85874294 85882991 12q21 12q21.31 162650 NTS Neurotensin NTS 4922 ENSG00000133636 Nts (MGI:1328351)
chr12 85972280 86839005 12q21 12q21.31-q21.32 607385 GNTIVH UDP-N-acetylglucosamine:alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV MGAT4C 25834 ENSG00000182050 Mgat4c (MGI:1914819)
chr12 88049012 88142215 12q21.3 12q21.32 610142 CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 Centrosomal protein, 290kD CEP290 80184 ENSG00000198707 mutation identified in 1 BBS14 family ?Bardet-Biedl syndrome 14, 615991 (3), Autosomal recessive; Joubert syndrome 5, 610188 (3), Autosomal recessive; Leber congenital amaurosis 10, 611755 (3); Meckel syndrome 4, 611134 (3), Autosomal recessive; Senior-Loken syndrome 6, 610189 (3), Autosomal recessive Cep290 (MGI:2384917)
chr12 88142295 88199886 12q21.32 12q21.32 617218 TMTC3, SMILE, LIS8 Transmembrane and tetratricopeptide repeat domains-containing protein 3 TMTC3 160418 ENSG00000139324 Lissencephaly 8, 617255 (3), Autosomal recessive Tmtc3 (MGI:3036255)
chr12 88492792 88580472 12q22 12q21.32 184745 KITLG, MGF, SF, SCF, SHEP7, FPHH, DCUA, DFNA69 KIT ligand (mast cell growth factor; steel, mouse, homolog of) KITLG 4254 ENSG00000049130 associated with dbSNP rs12821256 Deafness, autosomal dominant 69, unilateral or asymmetric, 616697 (3), Autosomal dominant; Hyperpigmentation with or without hypopigmentation, 145250 (3), Autosomal dominant; [Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3) Kitl (MGI:96974)
chr12 88600000 92200000 12q21.33 121400 CNA1 Cornea plana 1, autosomal dominant CNA1 1255 between D12S82 and D12S351 Cornea plana 1, autosomal dominant, 121400 (2), Autosomal dominant
chr12 88600000 92200000 12q21.33 612868 PACD Corneal dystrophy, posterior amorphous contiguous gene deletion syndrome Corneal dystrophy, posterior amorphous, 612868 (4), Autosomal dominant
chr12 89347824 89352858 12q21.33 12q21.33 602748 DUSP6, MKP3, PYST1, HH19 Dual-specificity phosphatase-6 DUSP6 1848 ENSG00000139318 Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3), Autosomal dominant Dusp6 (MGI:1914853)
chr12 89419717 89526261 12q21.33 12q21.33 614784 POC1B, PIX1, CORD20 POC1 centriolar protein, Chlamydomonas, homolog of, B POC1B 282809 ENSG00000139323 Cone-rod dystrophy 20, 615973 (3), Autosomal recessive Poc1b (MGI:1918511)
chr12 89519411 89524805 12q21.3-q22 12q21.33 603565 GALNT4, GalNAcT4 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 GALNT4 8693 ENSG00000257594 Galnt4 (MGI:894692)
chr12 89588048 89709352 12q21-q23 12q21.33 108731 ATP2B1, PMCA1 ATPase, Ca++ transporting, plasma membrane, 1 ATP2B1 490 ENSG00000070961 Atp2b1 (MGI:104653)
chr12 90963678 91005025 12q21 12q21.33 601657 EPYC, DSPG3 Epiphycan EPYC 1833 ENSG00000083782 Epyc (MGI:107942)
chr12 91050490 91058353 12q22 12q21.33 603288 KERA, CNA2 Keratocan KERA 11081 ENSG00000139330 Cornea plana 2, autosomal recessive, 217300 (3), Autosomal recessive Kera (MGI:1202398)
chr12 91103454 91111764 12q21.3-q22 12q21.33 600616 LUM, LDC Lumican LUM 4060 ENSG00000139329 Lum (MGI:109347)
chr12 91143276 91183123 12q21.3 12q21.33 125255 DCN, CSCD Decorin DCN 1634 ENSG00000011465 conflicting assignments to 12q23 and 12q13.2 Corneal dystrophy, congenital stromal, 610048 (3), Autosomal dominant Dcn (MGI:94872)
chr12 92140277 92145896 12q22 12q21.33 109580 BTG1 B-cell translocation gene 1, anti-proliferative BTG1 694 ENSG00000133639 Btg1 (MGI:88215)
chr12 92200000 108600000 12q22-q23.3 608096 ETL2, FTLE Epilepsy, familial temporal lobe 619399 max lod at D12S1706 Epilepsy, familial temporal lobe, 2, 608096 (2), Autosomal dominant
chr12 92200000 103500000 12q22-q23.2 608520 MDD1 Major depressive disorder 431708 max lod with D12S1706 Major depressive disorder 1, 608516 (2)
chr12 92420085 92432998 12q22 12q22 616989 CLLU1OS Chronic lymphocytic leukemia upregulated 1, opposite strand CLLU1OS 574016 ENSG00000205057
chr12 92421530 92431001 12q22 12q22 616988 CLLU1 Chronic lymphocytic leukemia upregulated gene 1 CLLU1 574028
chr12 92772508 92975227 12q22 12q22 605070 EEA1 Early endosome antigen 1 EEA1 8411 Eea1 (MGI:2442192)
chr12 93408311 93442335 12q22 12q22 603679 UBE2N, UBCHBEN; UBC13 Ubiquitin-conjugating enzyme E2N UBE2N 7334 ENSG00000177889 Ube2n (MGI:1934835)
chr12 93467489 93503771 12q22 12q22 611847 MRPL42, MRPL31, MRPS32 Mitochondrial ribosomal protein L42 MRPL42 28977 ENSG00000198015 Mrpl42 (MGI:1333774)
chr12 93565627 93571397 12q22 12q22 617269 SOCS2AS1 SOCS2 antisense RNA 1 SOCS2-AS1 144481
chr12 93677341 93894839 12q21.33-q23.1 12q22 603454 CRADD, RAIDD, MRT34 Caspase and RIP adaptor with death domain CRADD 8738 ENSG00000169372 Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (3), Autosomal recessive Cradd (MGI:1336168)
chr12 94265651 94460615 12q22 12q22 615847 CEP83, CCDC41, NPHP18 Centrosomal protein, 83kD CEP83 51134 ENSG00000173588 Nephronophthisis 18, 615862 (3), Autosomal recessive Cep83 (MGI:1924298)
chr12 94148722 94307674 Chr.12 12q22 604259 VESPR Virus-encoded semaphorin protein receptor PLXNC1 10154 ENSG00000136040 Plxnc1 (MGI:1890127)
chr12 94567123 94650561 12q22 12q22 617459 TMCC3 Transmembrane and coiled-coil domain family, member 3 TMCC3 57458 ENSG00000057704 Tmcc3 (MGI:2442900)
chr12 94834397 94834512 12q22 12q22 614384 MIR492 Micro RNA 492 MIR492 574449 within KRT19
chr12 94971327 95003712 12q22 12q22 614530 NDUFA12 NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 12 NDUFA12 55967 ENSG00000184752 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3), Autosomal recessive, Mitochondrial Ndufa12 (MGI:1913664)
chr12 95020228 95073627 12q22 12q22 601529 NR2C1, TR2 Nuclear receptor subfamily 2, group C, member 1 NR2C1 7181 ENSG00000120798 Nr2c1 (MGI:1352465)
chr12 95076748 95217463 12q22 12q22 613520 FGD6, ZFYVE24 FYVE, RhoGEF, and ph domain-containing protein 6 FGD6 55785 ENSG00000180263 Fgd6 (MGI:1261419)
chr12 95474045 95515838 12q22 12q22 601870 METAP2, p67 Methionine aminopeptidase 2 METAP2 10988 ENSG00000111142 Metap2 (MGI:1929701)
chr12 95516559 95551528 12q22 12q22 610993 USP44 Ubiquitin-specific protease 44 USP44 84101 ENSG00000136014 Usp44 (MGI:3045318)
chr12 95657806 95791205 12q22-q23 12q22 610401 NTN4 Netrin 4 NTN4 59277 ENSG00000074527 Ntn4 (MGI:1888978)
chr12 95800000 133275309 12q23-q24 613096 SPG36 Spastic paraplegia-36 SPG36 791228 between D12S360 and D12S354 Spastic paraplegia 36, autosomal dominant, 613096 (2), Autosomal dominant
chr12 95858930 95866459 12q23.1 12q23.1 603541 SNRPF Small nuclear ribonucleoprotein polypeptide F SNRPF 6636 ENSG00000139343 Snrpf (MGI:1917128)
chr12 95972661 95996364 12q22-q23 12q23.1 609457 HAL, HSTD Histidine ammonia-lyase (histidase) HAL 3034 ENSG00000084110 [Histidinemia], 235800 (3), Autosomal recessive, Autosomal dominant Hal (MGI:96010)
chr12 96000752 96043519 12q22 12q23.1 151570 LTA4H Leukotriene A4 hydrolase LTA4H 4048 ENSG00000111144 Lta4h (MGI:96836)
chr12 96194381 96269834 12q23 12q23.1 600247 ELK3, SAP2, ERP ELK3, ETS-domain protein (SRF accessory protein 2) ELK3 2004 ENSG00000111145 Elk3 (MGI:101762)
chr12 96278260 96400587 12q23.1 12q23.1 603440 CDK17, PCTK2, PCTAIRE2 Cyclin-dependent kinase 17 CDK17 5128 ENSG00000059758 Cdk17 (MGI:97517)
chr12 96907221 96953690 12q22 12q23.1 600372 NEDD1 Neural precursor cell expressed, developmentally down-regulated 1 NEDD1 121441 ENSG00000139350 Nedd1 (MGI:97293)
chr12 97462775 97565014 12q21 12q23.1 607045 RMST, NCRMS, NCRNA00054 Rhabdomyosarcoma 2-associated transcript RMST 196475
chr12 98515572 98550378 12q22 12q23.1 188380 TMPO, LAP2 Thymopoietin TMPO 7112 ENSG00000120802 Tmpo (MGI:106920)
chr12 98593624 98601999 12q23 12q23.1 600370 SLC25A3, PHC Solute carrier family 25 (mitochondrial carrier), member 3 SLC25A3 5250 ENSG00000075415 Mitochondrial phosphate carrier deficiency, 610773 (3) Slc25a3 (MGI:1353498)
chr12 98613403 98645050 12q23 12q23.1 609861 IKIP I-kappa-B kinase-interacting protein IKBIP 121457 ENSG00000166130 Ikbip (MGI:1914704)
chr12 98645140 98735432 12q23 12q23.1 602233 APAF1 Apoptotic protease activating factor 1 APAF1 317 ENSG00000120868 Apaf1 (MGI:1306796)
chr12 98729903 99984772 12q23.1 12q23.1 607815 ANKS1B, EB1 Ankyrin repeat and sterile alpha motif domain-containing protein 1B ANKS1B 56899 ENSG00000185046 Anks1b (MGI:1924781)
chr12 100267139 100341723 12q23.1 12q23.1 616365 SCYL2, CVAK104, KIAA1360 SCY1-like protein 2 SCYL2 55681 ENSG00000136021 Scyl2 (MGI:1289172)
chr12 100357078 100422058 12q23 12q23.1 607557 SLC17A8, VGLUT3, DFNA25 Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (vesicular glutamate transporter 3) SLC17A8 246213 ENSG00000179520 Deafness, autosomal dominant 25, 605583 (3), Autosomal dominant Slc17a8 (MGI:3039629)
chr12 100473772 100563866 12q23.1 12q23.1 603826 NR1H4, FXR, RIP14, PFIC5 Nuclear receptor subfamily 1 group H member 4 NR1H4 9971 ENSG00000012504 Cholestasis, progressive familial intrahepatic, 5, 617049 (3), Autosomal recessive Nr1h4 (MGI:1352464)
chr12 100573660 100628287 12q23.1 12q23.1 617224 GAS2L3, G2L3 Growth arrest-specific 2-like 3 GAS2L3 283431 ENSG00000139354 Gas2l3 (MGI:1918780)
chr12 100717456 101128640 12q23 12q23.1 610111 TMEM16D, FLJ34272 Transmembrane protein 16D ANO4 121601 ENSG00000151572 Ano4 (MGI:2443344)
chr12 101156215 101210273 12q22-q23 12q23.1-q23.2 608044 SLC5A8, AIT, SMCT Solute carrier family (iodide transporter), member 8 SLC5A8 160728 ENSG00000256870 Slc5a8 (MGI:2384916)
chr12 101200000 103500000 12q23.2 614985 HELLPAR, lncHELLP HELLP syndrome-associated long noncoding RNA HELLPAR 101101692
chr12 101280126 101386618 12q23.2-q23.3 12q23.2 612822 UTP20, DRIM UTP20, S. cerevisiae, homolog of UTP20 27340 ENSG00000120800 Utp20 (MGI:1917933)
chr12 101393119 101407819 12q23.2 12q23.2 603425 ARL1 ADP-ribosylation factor-like 1 ARL1 400 ENSG00000120805 Arl1 (MGI:99436)
chr12 101475275 101486996 12q22 12q23.2 612568 SPIC SPIC transcription factor SPIC 121599 ENSG00000166211 Spic (MGI:1341168)
chr12 101594848 101695840 12q23.2 12q23.2 160794 MYBPC1, LCCS4 Myosin-binding protein C, slow type MYBPC1 4604 ENSG00000196091 Arthrogryposis, distal, type 1B, 614335 (3), Autosomal dominant; Lethal congenital contracture syndrome 4, 614915 (3), Autosomal recessive Mybpc1 (MGI:1336213)
chr12 101697638 101752037 12q23.2 12q23.2 616747 CHPT1, CPT, CPT1 Choline phosphotransferase 1 CHPT1 56994 ENSG00000111666 Chpt1 (MGI:2384841)
chr12 101728647 101739720 12q23 12q23.2 604759 SYCP3, SCP3, COR1, SPGF4, RPRGL4 Synaptonemal complex protein 3 SYCP3 50511 ENSG00000139351 Pregnancy loss, recurrent, 4, 270960 (3), Autosomal dominant; Spermatogenic failure 4, 270960 (3), Autosomal dominant Sycp3 (MGI:109542)
chr12 101745496 101830866 12q23.3 12q23.2 607840 GNPTAB, GNPTA N-acetylglucosamine-1-phosphate transferase, alpha/beta subunits GNPTAB 79158 ENSG00000111670 conflicting assignment to 4q Mucolipidosis II alpha/beta, 252500 (3), Autosomal recessive; Mucolipidosis III alpha/beta, 252600 (3), Autosomal recessive Gnptab (MGI:3643902)
chr12 101877326 101923622 12q23.2 12q23.2 610776 DRAM1 Damage-regulated autophagy modulator 1 DRAM1 55332 ENSG00000136048 Dram1 (MGI:1918962)
chr12 102073961 102120130 12q23.2 12q23.2 609264 NUP37, p37 Nucleoporin, 37kD NUP37 79023 ENSG00000075188 Nup37 (MGI:1919964)
chr12 102120170 102197519 12q23 12q23.2 613687 C12orf48, AROM, PARPBP Chromosome 12 open reading frame 48 PARPBP 55010 ENSG00000185480 Parpbp (MGI:1922567)
chr12 102196458 102199539 12q23-q24 12q23.2 176795 PMCH Pro-melanin-concentrating hormone PMCH 5367 ENSG00000183395 Pmch (MGI:97629)
chr12 102395859 102481838 12q22-q24.1 12q23.2 147440 IGF1 Insulin-like growth factor-1, or somatomedin C IGF1 3479 ENSG00000017427 Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3), Autosomal recessive Igf1 (MGI:96432)
chr12 102836884 102958409 12q24.1 12q23.2 612349 PAH, PKU1 Phenylalanine hydroxylase PAH 5053 ENSG00000171759 close to IGF1 [Hyperphenylalaninemia, non-PKU mild], 261600 (3), Autosomal recessive; Phenylketonuria, 261600 (3), Autosomal recessive Pah (MGI:97473)
chr12 102957673 102960515 12q22-q23 12q23.2 100790 ASCL1, ASH1 Achaete-scute complex, Drosophila, homolog-like 1 ASCL1 429 ENSG00000139352 distal to PAH and proximal to TRA1 Central hypoventilation syndrome, congenital, 209880 (3), Autosomal dominant; Haddad syndrome, 209880 (3), Autosomal dominant Ascl1 (MGI:96919)
chr12 103746314 103841238 12q22-q23.1 12q23.3 611076 NT5DC3, TU12B1TY, GNN 5' nucleotidase domain-containing protein 3 NT5DC3 51559 ENSG00000111696 Nt5dc3 (MGI:3513266)
chr12 103930333 103947929 12q23.3 12q23.3 191175 HSP90B1, TRA1, GRP94, GP96 Heat-shock protein, 90kD, beta, 1 HSP90B1 7184 ENSG00000166598 Hsp90b1 (MGI:98817)
chr12 103965814 103988877 12q24.1 12q23.3 601423 TDG Thymine-DNA glycosylase TDG 6996 ENSG00000139372 Tdg,Tdg-ps (MGI:108247,MGI:3645587)
chr12 104064457 104108953 12q23.3 12q23.3 607926 HCFC2, HCF2 Host cell factor C2 HCFC2 29915 ENSG00000111727 Hcfc2 (MGI:1915183)
chr12 104117079 104138261 12q23.3 12q23.3 189904 NFYB Transcription factor NF-Y, B subunit NFYB 4801 ENSG00000120837 Nfyb (MGI:97317)
chr12 104215778 104350306 12q23-q24.1 12q23.3 601112 TXNRD1, TXNR Thioredoxin reductase-1 TXNRD1 7296 ENSG00000198431 Txnrd1 (MGI:1354175)
chr12 104303731 104305204 12q23-q24.1 12q23.3 612986 EID3, NSMCE4B, NSE4B E1A-like inhibitor of differentiation 3 EID3 493861 ENSG00000255150 Eid3 (MGI:1913591)
chr12 104456913 104762013 12q23 12q23.3 610128 CHST11, C4ST1 Carbohydrate sulfotransferase 11 CHST11 50515 ENSG00000171310 Chst11 (MGI:1927166)
chr12 104802552 104958743 12q23.3 12q23.3 610802 SLC41A2 Solute carrier family 41, member 2 SLC41A2 84102 ENSG00000136052 Slc41a2 (MGI:2442940)
chr12 105019783 105084608 12q23.3 12q23.3 613584 ALDH1L2 Aldehyde dehydrogenase 1 family, member L2 ALDH1L2 160428 ENSG00000136010 Aldh1l2 (MGI:2444680)
chr12 105107713 105169133 12q23.3 12q23.3 615748 WASHC4, KIAA1033, SWIP, MRT43 WASH complex, subunit 4 WASHC4 23325 ENSG00000136051 mutation identified in 1 MRT43 family ?Mental retardation, autosomal recessive 43, 615817 (3), Autosomal recessive Washc4 (MGI:2441787)
chr12 105173296 105236229 12q24.1 12q23.3 606231 APPL2, FLJ10659 Adaptor protein, phosphotyrosine interaction, PH domain, and leucine zipper-containing protein 2 APPL2 55198 ENSG00000136044 Appl2 (MGI:2384914)
chr12 106063346 106140032 12q23.3 12q23.3 608130 NUAK1, ARK5, KIAA0537 NUAK family, SNF1-like kinase, 1 NUAK1 9891 ENSG00000074590 Nuak1 (MGI:1925226)
chr12 106357657 106510197 12q23.3 12q23.3 614366 POLR3B, RPC2, C128, HLD8 Polymerase III, RNA, subunit B POLR3B 55703 ENSG00000013503 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3), Autosomal recessive Polr3b (MGI:1917678)
chr12 106774555 106889315 12q23.3 12q23.3 609147 RIC8B Ric8, C. elegans, homolog of, B RIC8B 55188 ENSG00000111785 Ric8b (MGI:2682307)
chr12 106972855 106987165 12q23.3 12q23.3 616929 MTERF2, MTERFD3 Transcription termination factor 2, mitochondrial MTERF2 80298 ENSG00000120832 Mterf2 (MGI:1921488)
chr12 106991363 107093871 12q23-q24.1 12q23.3 601933 CRY1, PHLL1, DSPD Cryptochrome 1 (photolyase-like) CRY1 1407 ENSG00000008405 {Delayed sleep phase disorder, susceptibility to}, 614163 (3), Autosomal dominant Cry1 (MGI:1270841)
chr12 107732865 107761271 12q23-q24.1 12q23.3 605780 PRDM4, PFM1 PR domain-containing protein 4 PRDM4 11108 ENSG00000110851 Prdm4 (MGI:1920093)
chr12 108288043 108339346 12q24.1 12q23.3 602351 CMKLR1 Chemokine-like receptor 1 CMKLR1 1240 ENSG00000174600 Cmklr1 (MGI:109603)
chr12 108522213 108561388 12q24.1 12q23.3 611684 SART3, P100, KIAA0156, TIP110 Squamous cell carcinoma antigen recognized by T cells 3 SART3 9733 ENSG00000075856 Sart3 (MGI:1858230)
chr12 108561462 108569383 12q24.1 12q23.3 611911 ISCU, HML Iron-sulfur cluster scaffold, E. coli, homolog of ISCU 23479 ENSG00000136003 Myopathy with lactic acidosis, hereditary, 255125 (3), Autosomal recessive Iscu (MGI:1913633)
chr12 108600000 133275309 12q24 612011 CELIAC13 Celiac disease, susceptibility to, 13 100188875 associated with rs3184504 {Celiac disease, susceptibility to, 13}, 612011 (2)
chr12 108600000 133275309 12q24 608447 CIMT Carotid intimal medial thickness 404677 161cM from pter; near SCARB1 Carotid intimal medial thickness, 608447 (2)
chr12 108600000 133275309 12q24 607411 PDA1 Patent ductus arteriosus 100996949 {Patent ductus arteriosus, susceptibility to}, 607411 (2), Autosomal recessive
chr12 108600000 120300000 12q24.1-q24.2 175850 POROK2, PPPD1 Porokeratosis 2, palmar, plantar, and disseminated 100196910 between D12S1613 and D12S1341 Porokeratosis 2, palmar, plantar, and disseminated, 175850 (2), Autosomal dominant
chr12 108600000 133275309 12q24 608437 SLEB4 Systemic lupus erythematosus, susceptibility to, 4 404714 {Systemic lupus erythematosus, susceptibility to, 4}, 608437 (2)
chr12 108600000 113900000 12q24.1 609261 STUT2 Stuttering, familial persistent, 2 100049543 max lod with PAH Stuttering, familial persistent, 2, 609261 (2)
chr12 108621894 108633893 12q24 12q24.11 600738 SELPLG, PSGL1 Selectin P ligand SELPLG 6404 ENSG00000110876 Selplg (MGI:106689)
chr12 108645108 108759954 12q24.1 12q24.11 605269 CORO1C Coronin 1C CORO1C 23603 ENSG00000110880 Coro1c (MGI:1345964)
chr12 108782689 108857605 12q24.11 12q24.11 606778 SSH1, KIAA1298 Slingshot, Drosophila, homolog of, 1 SSH1 54434 ENSG00000084112 Ssh1 (MGI:2686240)
chr12 108880029 108901042 12q24 12q24.11 124050 DAO, DAMOX D-amino-acid oxidase DAO 1610 ENSG00000110887 tightly linked to SCA2 {Schizophrenia}, 181500 (2), Autosomal dominant Dao (MGI:94859)
chr12 108908128 109021239 12q24.1 12q24.11 611699 SVOP SV2-related protein SVOP 55530 ENSG00000166111 Svop (MGI:1915916)
chr12 109023088 109088025 12q23-q24 12q24.11 612492 USP30 Ubiquitin-specific protease 30 USP30 84749 ENSG00000135093 Usp30 (MGI:2140991)
chr12 109088187 109093630 12q23.3 12q24.11 610602 ALKBH2, ABH2 AlkB, E. coli, homolog of, 2 ALKBH2 121642 ENSG00000189046 Alkbh2 (MGI:2141032)
chr12 109097593 109110992 12q23-q24.1 12q24.11 191525 UNG, DGU, HIGM5 Uracil-DNA glycosylase UNG 7374 ENSG00000076248 Immunodeficiency with hyper IgM, type 5, 608106 (3), Autosomal recessive Ung (MGI:109352)
chr12 109112665 109268225 12q24.1 12q24.11 601557 ACACB, ACCB, ACC2 Acetyl-Coenzyme A carboxylase, beta ACACB 32 ENSG00000076555 Acacb (MGI:2140940)
chr12 109277977 109309405 12q24.1 12q24.11 609429 FOXN4 Forkhead box N4 FOXN4 121643 ENSG00000139445 Foxn4 (MGI:2151057)
chr12 109388276 109448370 12q24.11 12q24.11 614636 MYO1H Myosin IH MYO1H 283446 ENSG00000174527 Myo1h (MGI:1914674)
chr12 109448654 109477543 12q24.11 12q24.11 613421 KCTD10 Potassium channel tetramerization domain-containing 10 KCTD10 83892 ENSG00000110906 Kctd10 (MGI:2141207)
chr12 109477409 109543627 12q24.11 12q24.11 608047 UBE3B, BPIDS, KOS Ubiquitin-protein ligase E3B UBE3B 89910 ENSG00000151148 Kaufman oculocerebrofacial syndrome, 244450 (3), Autosomal recessive Ube3b (MGI:1891295)
chr12 109553714 109573579 12q24 12q24.11 607568 MMAB MMAB gene MMAB 326625 ENSG00000139428 Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3), Autosomal recessive Mmab (MGI:1924947)
chr12 109573460 109597269 12q24 12q24.11 251170 MVK, MVLK, POROK3 Mevalonate kinase MVK 4598 ENSG00000110921 Hyper-IgD syndrome, 260920 (3), Autosomal recessive; Mevalonic aciduria, 610377 (3), Autosomal recessive; Porokeratosis 3, multiple types, 175900 (3), Autosomal dominant Mvk (MGI:107624)
chr12 109783086 109833406 12q24.1 12q24.11 605427 TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3 Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel) TRPV4 59341 ENSG00000111199 mutation identified in 1 ANFH2 family ?Avascular necrosis of femoral head, primary, 2, 617383 (3), Autosomal dominant; Brachyolmia type 3, 113500 (3), Autosomal dominant; Digital arthropathy-brachydactyly, familial, 606835 (3), Autosomal dominant; Hereditary motor and sensory neuropathy, type IIc, 606071 (3), Autosomal dominant; Metatropic dysplasia, 156530 (3), Autosomal dominant; Parastremmatic dwarfism, 168400 (3), Autosomal dominant; SED, Maroteaux type, 184095 (3), Autosomal dominant; Scapuloperoneal spinal muscular atrophy, 181405 (3), Autosomal dominant; [Sodium serum level QTL 1], 613508 (3); Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3), Autosomal dominant; Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3), Autosomal dominant Trpv4 (MGI:1926945)
chr12 109850942 109880487 12q24.11 12q24.11 608949 GLTP Glycolipid transfer protein GLTP 51228 ENSG00000139433 Gltp (MGI:1929253)
chr12 109880666 109918068 12q24.1 12q24.11 612654 TCHP Trichoplein TCHP 84260 ENSG00000139437 Tchp (MGI:1925082)
chr12 109999168 110039431 12q24.11 12q24.11 615123 ANKRD13A Ankyrin repeat domain-containing protein 13A ANKRD13A 88455 ENSG00000076513 Ankrd13a (MGI:1915670)
chr12 110124334 110218794 12q24.13 12q24.11 605489 IFT81, DV1, CDV1R, SRTD19 Intraflagellar transport 81, Chlamydomonas, homolog of IFT81 28981 ENSG00000122970 Short-rib thoracic dysplasia 19 with or without polydactyly 19, 617895 (3), Autosomal recessive Ift81 (MGI:1098597)
chr12 110281226 110351092 12q23-q24.1 12q24.11 108740 ATP2A2, ATP2B, DAR ATPase, Ca++ transporting, slow-twitch, cardiac muscle-2 ATP2A2 488 ENSG00000174437 Acrokeratosis verruciformis, 101900 (3), Autosomal dominant; Darier disease, 124200 (3), Autosomal dominant Atp2a2 (MGI:88110)
chr12 110372899 110403729 12q24.11 12q24.11 606949 ANAPC7, APC7 Anaphase-promoting complex, subunit 7 ANAPC7 51434 ENSG00000196510 Anapc7 (MGI:1929711)
chr12 110434889 110450410 12q24.11 12q24.11 604225 ARPC3, ARC21 Actin-related protein 2/3 complex, subunit 3 ARPC3 10094 ENSG00000111229 Arpc3 (MGI:1928375)
chr12 110501650 110534631 12q24 12q24.11 608368 RAD9B RAD9, S. pombe, homolog of, A RAD9B 144715 ENSG00000151164 Rad9b (MGI:2385231)
chr12 110533244 110583258 12q24.1 12q24.11 609668 PPTC7, TAPP2C PTC7 protein phosphatase, S. cerevisiae, homolog of PPTC7 160760 ENSG00000196850 Pptc7 (MGI:2444593)
chr12 110614026 110649129 12q24.1 12q24.11 609863 TECT1, JBTS13 Tectonic family, member 1 TCTN1 79600 ENSG00000204852 Joubert syndrome 13, 614173 (3), Autosomal recessive Tctn1 (MGI:3603820)
chr12 110648685 110704944 12q24.11 12q24.11 611227 HVCN1, HV1, VSOP Hydrogen voltage-gated channel 1 HVCN1 84329 ENSG00000122986 Hvcn1 (MGI:1921346)
chr12 110708368 110742977 12q24.1-q24.2 12q24.11 176914 PPP1CC Protein phosphatase-1, catalytic subunit, gamma isoform PPP1CC 5501 ENSG00000186298 Gm5601 (MGI:3647492)
chr12 110910818 110920599 12q23-q24.3 12q24.11 160781 MYL2, CMH10 Myosin, light polypeptide-2, regulatory, cardiac, slow MYL2 4633 ENSG00000111245 Cardiomyopathy, hypertrophic, 10, 608758 (3), Autosomal dominant Myl2 (MGI:97272)
chr12 111360650 111369120 12q24.12 12q24.12 614239 FAM109A, SES1, IPIP27A Family with sequence similarity 109, member A PHETA1 144717 ENSG00000198324 Fam109a (MGI:2442708)
chr12 111405106 111451622 12q24 12q24.12 605093 SH2B3, LNK SH2B adaptor protein 3 SH2B3 10019 ENSG00000111252 Erythrocytosis, somatic, 133100 (3); Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3) Sh2b3 (MGI:893598)
chr12 111452213 111599675 12q24 12q24.12 601517 ATXN2, ATX2, SCA2, ASL13 Ataxin-2 ATXN2 6311 ENSG00000204842 {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3), Autosomal dominant; {Parkinson disease, late-onset, susceptibility to}, 168600 (3), Isolated cases, Multifactorial; Spinocerebellar ataxia 2, 183090 (3), Autosomal dominant Atxn2 (MGI:1277223)
chr12 111642145 111686022 12q24 12q24.12 604986 BRAP, BRAP2, IMP BRCA1-associated protein BRAP 8315 ENSG00000089234 Brap (MGI:1919649)
chr12 111686052 111757106 12q24.1 12q24.12 611181 ACAD10 Acyl-CoA dehydrogenase family, member 10 ACAD10 80724 ENSG00000111271 Acad10 (MGI:1919235)
chr12 111766886 111809984 12q24.2 12q24.12 100650 ALDH2 Aldehyde dehydrogenase 2 family, mitochondrial ALDH2 217 ENSG00000111275 Alcohol sensitivity, acute, 610251 (3), Autosomal dominant; {Esophageal cancer, alcohol-related, susceptibility to} (3); {Hangover, susceptibility to}, 610251 (3), Autosomal dominant; {Sublingual nitroglycerin, susceptibility to poor response to} (3) Aldh2 (MGI:99600)
chr12 111841977 111902224 12q24.12-q24.13 12q24.12-q24.13 606723 MAPKAPK5, PRAK Mitogen-activated protein kinase-activated protein kinase 5 MAPKAPK5 8550 ENSG00000089022 Mapkapk5 (MGI:1333110)
chr12 112013339 112023219 Chr.12 12q24.13 602287 C12orf8, ERP28, ERP29 Endoplasmic reticulum lumenal protein 28 ERP29 10961 ENSG00000089248 Erp29 (MGI:1914647)
chr12 112026688 112108830 12q24.13 12q24.13 612755 MDM20, C12orf30 Mitochondrial distribution and morphology 20, yeast, homolog of NAA25 80018 ENSG00000111300 Naa25 (MGI:2442563)
chr12 112125544 112153603 12q24.13 12q24.13 613197 TRAFD1, FLN29 TRAF-type zinc finger domain-containing 1 TRAFD1 10906 ENSG00000135148 Trafd1 (MGI:1923551)
chr12 112405180 112418849 12q 12q24.13 603703 RPL6 Ribosomal protein L6 RPL6 6128 ENSG00000089009 Rpl6l,Rpl6 (MGI:108057,MGI:3647789)
chr12 112418897 112509917 12q24.1 12q24.13 176876 PTPN11, PTP2C, SHP2, NS1, JMML, METCDS Protein tyrosine phosphatase, nonreceptor-type, 11 PTPN11 5781 ENSG00000179295 LEOPARD syndrome 1, 151100 (3), Autosomal dominant; Leukemia, juvenile myelomonocytic, somatic, 607785 (3); Metachondromatosis, 156250 (3), Autosomal dominant; Noonan syndrome 1, 163950 (3), Autosomal dominant Ptpn11 (MGI:99511)
chr12 112575096 112898880 12q24.1 12q24.13 612159 RPH3A, KIAA0985 Rabphilin 3A RPH3A 22895 ENSG00000089169 Rph3a (MGI:102788)
chr12 112906776 112932189 12q24.2 12q24.13 164350 OAS1, OIAS 2',5'-oligoadenylate synthetase-1 OAS1 4938 ENSG00000089127 {Diabetes mellitus, type 1, susceptibility to}, 222100 (3), Autosomal recessive; {Viral infection, susceptibility to} (3) Oas1g,Oas1a (MGI:2180860,MGI:97429)
chr12 112938432 112973250 12q24.2 12q24.13 603351 OAS3 2',5'-oligoadenylate synthetase-3 OAS3 4940 ENSG00000111331 Oas3 (MGI:2180850)
chr12 112978465 113011722 12q24.2 12q24.13 603350 OAS2 2',5'-oligoadenylate synthetase-2 OAS2 4939 ENSG00000111335 Oas2 (MGI:2180852)
chr12 113056710 113098027 12q24 12q24.13 602582 DTX1 Deltex, Drosophila, homolog of, 1 DTX1 1840 ENSG00000135144 Dtx1 (MGI:1352744)
chr12 113096514 113136247 12q23-q24 12q24.13 604118 RASAL1, RASAL Ras protein activator-like 1 RASAL1 8437 ENSG00000111344 Rasal1 (MGI:1330842)
chr12 113157172 113185478 12q22-q23 12q24.13 611665 DDX54, DP97 Dead/H Box 54 DDX54 79039 ENSG00000123064 Ddx54 (MGI:1919240)
chr12 113221428 113298588 12q24.1 12q24.13 609666 TPCN1, TPC1, KIAA1169 Two-pore segment channel 1 TPCN1 53373 ENSG00000186815 Tpcn1 (MGI:2182472)
chr12 113298765 113335167 12q24 12q24.13 609841 SLC8B1, SLC24A6, NCKX6 Solute carrier family 8 member B1 SLC8B1 80024 ENSG00000089060 Slc8b1 (MGI:2180781)
chr12 113392444 113403886 12q24.13 12q24.13 182128 SDS, SDH Serine dehydratase SDS 10993 ENSG00000135094 Sds (MGI:98270)
chr12 113462888 113472071 12q24.31-q24.32 12q24.13 605992 LHX5 LIM homeo box protein 5 LHX5 64211 ENSG00000089116 Lhx5 (MGI:107792)
chr12 113816737 113966370 12q24.13-q24.21 12q24.13-q24.21 616444 RBM19, KIAA0682 RNA-binding motif protein 19 RBM19 9904 ENSG00000122965 Rbm19 (MGI:1921361)
chr12 113900000 133275309 12q24.2-q24.3 614422 CTRCT37, CCA5 Cataract 37 100861439 between D12S1718 and D12S1723 Cataract 37, autosomal dominant, 614422 (2), Autosomal dominant
chr12 113900000 120300000 12q24.2 601407 NIDDM2 Diabetes mellitus, noninsulin-dependent, 2 NIDDM2 4813 no mutations found in HNF1A Diabetes mellitus, noninsulin-dependent, 2, 601407 (2)
chr12 113900000 133275309 12q24.2-q24.3 603416 RPL21P1, ALFN1, HALF1 Ribosomal protein L21 pseudogene 1 RPL21P1 6145
chr12 114353910 114408707 12q24.1 12q24.21 601620 TBX5 T-box 5 TBX5 6910 ENSG00000089225 Holt-Oram syndrome, 142900 (3), Autosomal dominant Tbx5 (MGI:102541)
chr12 114670253 114684163 12q24.1 12q24.21 601621 TBX3 T-box 3 TBX3 6926 ENSG00000135111 Ulnar-mammary syndrome, 181450 (3), Autosomal dominant Tbx3 (MGI:98495)
chr12 115958575 116277218 12q24 12q24.21 608771 MED13L, THRAP2, PROSIT240, TRAP240L, KIAA1025, MRFACD Mediator complex subunit 13-like MED13L 23389 ENSG00000123066 Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3), Autosomal dominant; Transposition of the great arteries, dextro-looped 1, 608808 (3), Autosomal dominant Med13l (MGI:2670178)
chr12 116856143 116881426 12q24.2 12q24.22 603447 HRK, DP5 Harakiri HRK 8739 ENSG00000135116
chr12 116910948 117032497 12q24.23 12q24.22 609073 FBXW8, FBW8, FBXW6, FBW6, FBXO29, FBX29 F-box and WD40 domain protein 8 FBXW8 26259 ENSG00000174989 Fbxw8 (MGI:1923041)
chr12 117038922 117099489 12q24.2 12q24.22 611585 TESC, TSC Tescalcin, mouse, homolog of TESC 54997 ENSG00000088992 Tesc (MGI:1930803)
chr12 117143472 117190494 12q24.23 12q24.22 609095 FBXO21, FBX21, KIAA0875 F-box only protein 21 FBXO21 23014 ENSG00000135108 Fbxo21 (MGI:1924223)
chr12 117208141 117361801 12q24.2-q24.31 12q24.22 163731 NOS1 Nitric oxide synthase 1, neuronal NOS1 4842 ENSG00000089250 Nos1 (MGI:97360)
chr12 117453011 117968556 12q24.2 12q24.22-q24.23 610737 KSR2 Kinase suppressor of RAS 2 KSR2 283455 ENSG00000171435 Ksr2 (MGI:3610315)
chr12 118016660 118033563 12q24.2-q24.3 12q24.23 600407 RFC5 Replication factor C5, 36.5kD (activator 1, 36.5kD) RFC5 5985 ENSG00000111445 Rfc5 (MGI:1919401)
chr12 118135883 118145587 12q24.23 12q24.23 604591 PEBP1, PBP, RKIP Phosphatidylethanolamine-binding protein 1 PEBP1 5037 ENSG00000089220 Pebp1 (MGI:1344408)
chr12 118149800 118372949 12q24.23 12q24.23 616711 TAOK3, JIK, DPK TAO kinase 3 TAOK3 51347 ENSG00000135090 Taok3 (MGI:3041177)
chr12 118981494 119163050 12q24.23 12q24.23 613103 SRRM4, KIAA1853, NSR100 Serine/arginine repetitive matrix protein 4 SRRM4 84530 ENSG00000139767 Srrm4 (MGI:1916205)
chr12 119178789 119194745 12q24 12q24.23 608014 HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A Heat-shock 22-kD protein 8 HSPB8 26353 ENSG00000152137 Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3), Autosomal dominant; Neuropathy, distal hereditary motor, type IIA, 158590 (3), Autosomal dominant Hspb8 (MGI:2135756)
chr12 119667863 119681623 12q24.1 12q24.23 602740 PRKAB1 Protein kinase, AMP-activated, noncatalytic, beta-1 PRKAB1 5564 ENSG00000111725 Prkab1 (MGI:1336167)
chr12 119685789 119877317 12q24.1-q24.3 12q24.23 605629 CIT, STK21, CRIK, MCPH17 Citron rho-interacting serine/threonine kinase CIT 11113 ENSG00000122966 Microcephaly 17, primary, autosomal recessive, 617090 (3), Autosomal recessive Cit (MGI:105313)
chr12 119989805 120094494 12q24.23 12q24.23 617002 BICDL1, BICDR1, CCDC64 BICD family-like cargo adaptor 1 BICDL1 92558 ENSG00000135127 Bicdl1 (MGI:1922915)
chr12 120095093 120117468 12q24.23 12q24.23 604199 RAB35 Ras-associated protein Rab35 RAB35 11021 ENSG00000111737 Rab35 (MGI:1924657)
chr12 120127209 120194709 12q24.2 12q24.23 605614 GCN1L1 General control of amino acid synthesis 1, yeast, homolog-like 1 GCN1 10985 ENSG00000089154 Gcn1l1 (MGI:2444248)
chr12 120196699 120201210 Chr.12 12q24.23 180510 RPLP0 Ribosomal phosphoprotein, large, P0 RPLP0 6175 ENSG00000089157 Rplp0 (MGI:1927636)
chr12 120210438 120265770 12q24 12q24.23 602505 PXN Paxillin PXN 5829 ENSG00000089159 Pxn (MGI:108295)
chr12 120290638 120313241 12q24.31 12q24.23-q24.31 604482 SIRT4, SIR2L4 Sirtuin, S. cerevisiae, homolog 4 SIRT4 23409 ENSG00000089163 Sirt4 (MGI:1922637)
chr12 120300000 125400000 12q24.31 612573 MPVQTL1 Mean platelet volume quantitative trait locus 1 100271867 associated with rs7961894 [Mean platelet volume QTL1], 612573 (2)
chr12 120322110 120327788 12q23-q24.1 12q24.31 172410 PLA2G1B, PLA2A, PLA2, PPLA2 Phospholipase A2, group IB, pancreas PLA2G1B 5319 ENSG00000170890 Pla2g1b (MGI:101842)
chr12 120339661 120369179 12q24.1-q24.31 12q24.31 603328 MSI1 Musashi, Drosophila, homolog of, 1 MSI1 4440 ENSG00000135097 Msi1 (MGI:107376)
chr12 120438089 120440741 12q24.2 12q24.31 602072 COX6A1, CMTRID Cytochrome c oxidase, subunit VIa, polypeptide-1 COX6A1 1337 ENSG00000111775 pseudogenes on chr.7 and chr.6 Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3), Autosomal recessive Cox6a1 (MGI:103099)
chr12 120443960 120446411 12q24.31 12q24.31 614943 TRIAP1, HSPC132 TP53-regulated inhibitor of apoptosis 1 TRIAP1 51499 ENSG00000170855 Triap1 (MGI:1916326)
chr12 120446437 120463752 12q24.31 12q24.31 617210 GATC Glutamyl-tRNA amidotransferase, subunit C GATC 283459 ENSG00000257218 Gatc (MGI:1923776)
chr12 120461667 120469754 12q24.31 12q24.31 601943 SRSF9, SFRS9, SRp30c Splicing factor, serine/arginine-rich, 9 SRSF9 8683 ENSG00000111786 Srsf9 (MGI:104896)
chr12 120469856 120498494 12q24.2 12q24.31 601562 DYNLL1, DNCL1, DLC1, PIN Dynein, light chain, LC8-type 1 DYNLL1 8655 ENSG00000088986 possible pseudogene on 14q24 Dynll1 (MGI:1861457)
chr12 120490337 120495945 12q24.31 12q24.31 616207 NRAV, DYNLL1AS1 Negative regulator of antiviral response, noncoding NRAV 100506668 overlaps intron 1 of DYNLL1 in antisense orientation
chr12 120503278 120534612 12q24.31 12q24.31 616359 COQ5 Coq5, S. cerevisiae, homolog of COQ5 84274 ENSG00000110871 Coq5 (MGI:1098643)
chr12 120534328 120577593 12q24.31 12q24.31 615998 RNF10, KIAA0262 RING finger protein 10 RNF10 9921 ENSG00000022840 Rnf10 (MGI:1859162)
chr12 120579044 120581451 12q24.31 12q24.31 609992 POP5, HSPC004 Processing of precursor 5, S. cerevisiae, homolog of POP5 51367 ENSG00000167272 Pop5 (MGI:2151221)
chr12 120687123 120701863 12q24.31 12q24.31 613802 MLEC, KIAA0152 Malectin MLEC 9761 ENSG00000110917 Mlec (MGI:1924015)
chr12 120725737 120740007 12q22-qter 12q24.31 606885 ACADS, SCAD Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain ACADS 35 ENSG00000122971 Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3), Autosomal recessive Acads (MGI:87868)
chr12 120762509 120904351 12q24.31 12q24.31 608240 SPPL3, IMP2 Signal peptide peptidase-like 3 SPPL3 121665 ENSG00000157837 Sppl3 (MGI:1891433)
chr12 120977682 121002511 12q24.2 12q24.31 142410 HNF1A, TCF1, MODY3, IDDM20 HNF1 homeobox B HNF1A 6927 ENSG00000135100 Diabetes mellitus, insulin-dependent, 20, 612520 (3); {Diabetes mellitus, insulin-dependent}, 222100 (3), Autosomal recessive; {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3), Autosomal dominant; Hepatic adenoma, somatic, 142330 (3); MODY, type III, 600496 (3), Autosomal dominant; Renal cell carcinoma, 144700 (3) Hnf1a (MGI:98504)
chr12 121018881 121039241 12q24.2 12q24.31 603281 OASL, TRIP14 2',5'-oligoadenylate synthetase-like OASL 8638 ENSG00000135114 Oasl1 (MGI:2180849)
chr12 121132818 121188031 12q24 12q24.31 602566 P2RX7, P2X7 Purinergic receptor P2X, ligand-gated ion channel, 7 P2RX7 5027 ENSG00000089041 P2rx7 (MGI:1339957)
chr12 121209860 121234105 12q24.32 12q24.31 600846 P2RX4, P2X4 Purinergic receptor P2X, ligand-gated ion channel, 4 P2RX4 5025 ENSG00000135124 P2rx4 (MGI:1338859)
chr12 121237691 121298307 12q24.2 12q24.31 615002 CAMKK2, KIAA0787, CAMKKB Calcium/calmodulin-dependent protein kinase kinase 2, beta CAMKK2 10645 ENSG00000110931 Camkk2 (MGI:2444812)
chr12 121308244 121354208 Chr.12 12q24.31 606948 ANAPC5, APC5 Anaphase-promoting complex, subunit 5 ANAPC5 51433 ENSG00000089053 Anapc5 (MGI:1929722)
chr12 121400082 121424351 12q23-q24.1 12q24.31 608299 RNF34, RFI Ring finger protein 34 RNF34 80196 ENSG00000170633 Rnf34 (MGI:2153340)
chr12 121402287 121582267 12q24.31 12q24.31 609078 KDM2B, FBXL10, FBL10, CXXC2, JHDM1B Lysine-specific demethylase 2B KDM2B 84678 ENSG00000089094 Kdm2b (MGI:1354737)
chr12 121626549 121642039 12q24 12q24.31 610277 ORAI1, TMEM142A, CRACM1, IMD9, TAM2 ORAI calcium release-activated calcium modulator 1 ORAI1 84876 ENSG00000276045 Immunodeficiency 9, 612782 (3), Autosomal recessive; Myopathy, tubular aggregate, 2, 615883 (3), Autosomal dominant Orai1 (MGI:1925542)
chr12 121712751 121782067 12q24.31 12q24.31 616551 TMEM120B Transmembrane protein 120B TMEM120B 144404 ENSG00000188735 Tmem120b (MGI:3603158)
chr12 121803664 121832655 12q24.31 12q24.31 611055 SETD1B, SET1B, KIAA1076 SET domain-containing protein 1B SETD1B 23067 ENSG00000139718
chr12 121839526 121888610 12q24-qter 12q24.31 609695 HPD 4-hydroxyphenylpyruvate dioxygenase HPD 3242 ENSG00000158104 Hawkinsinuria, 140350 (3), Autosomal dominant; Tyrosinemia, type III, 276710 (3), Autosomal recessive Hpd (MGI:96213)
chr12 121888730 121917864 12q24.2-q24.3 12q24.31 603146 PSMD9 Proteasome 26S subunit, non-ATPase, 9 PSMD9 5715 ENSG00000110801 Psmd9 (MGI:1914401)
chr12 122021885 122062043 12q24.1 12q24.31 601406 BCL7A, BCL7 B-cell CLL/lymphoma-7A BCL7A 605 ENSG00000110987 B-cell non-Hodgkin lymphoma, high-grade (3) Bcl7a (MGI:1924295)
chr12 122078727 122147346 12q21.31 12q24.31 608090 MLXIP, MONDOA, KIAA0867 MLX-interacting protein MLXIP 22877 ENSG00000175727 Mlxip (MGI:2141183)
chr12 122172029 122174198 12q24.31 12q24.31 609509 IL31 Interleukin 31 IL31 386653 ENSG00000204671
chr12 122203680 122208951 12q24.31 12q24.31 605864 B3GNT4 Beta-1,3-N-acetylglucosaminyltransferase 4 B3GNT4 79369 ENSG00000176383 B3gnt4 (MGI:2680208)
chr12 122207661 122227533 12q24.31 12q24.31 605219 SMAC, DIABLO, DFNA64 Second mitochondria-derived activator of caspase DIABLO 56616 ENSG00000184047 Deafness, autosomal dominant 64, 614152 (3), Autosomal dominant Diablo (MGI:1913843)
chr12 122229560 122266822 12q24.31 12q24.31 610034 VPS33A, MPSPS Vacuolar protein sorting 33, yeast, homolog of, A VPS33A 65082 ENSG00000139719 Mucopolysaccharidosis-plus syndrome, 617303 (3), Autosomal recessive Vps33a (MGI:1924823)
chr12 122271431 122422955 12q24.3 12q24.31 179838 CLIP1, RSN, CYLN1, CLIP170 CAP-GLY domain containing linker protein 1 CLIP1 6249 ENSG00000130779 Clip1 (MGI:1928401)
chr12 122471598 122501183 12q24.31 12q24.31 616381 ZCCHC8 Zinc finger CCHC domain-containing protein 8 ZCCHC8 55596 ENSG00000033030 Zcchc8 (MGI:1917900)
chr12 122527105 122626408 12q24.31 12q24.31 607363 KNTC1, ROD, KIAA0166 Kinetochore-associated protein 1 KNTC1 9735 ENSG00000184445 previously assigned to chr.17 Kntc1 (MGI:2673709)
chr12 122701292 122703356 12q24.31 12q24.31 609163 HCAR2, GPR109A, HM74A Hydroxycarboxylic acid receptor 2 HCAR2 338442 ENSG00000182782 Hcar2 (MGI:1933383)
chr12 122714755 122716891 12q24.31 12q24.31 606039 HCAR3, GPR109B, HM74, PUMAG Hydroxycarboxylic acid receptor 3 HCAR3 8843 ENSG00000255398
chr12 122727605 122730581 12q24.31 12q24.31 606923 HCAR1, GPR81, TAGPCR Hydroxycarboxylic acid receptor 1 HCAR1 27198 ENSG00000196917 Hcar1 (MGI:2441671)
chr12 122752820 122771063 12q24.31 12q24.31 604550 DENR, DRP Density-regulated protein DENR 8562 ENSG00000139726 Denr (MGI:1915434)
chr12 122773620 122827384 12q24.31 12q24.31 613481 CCDC62, ERAP75 Coiled-coil domain-containing protein 62 CCDC62 84660 ENSG00000130783 Ccdc62 (MGI:2684996)
chr12 122834497 122862960 12q24.2-q24.3 12q24.31 605613 HIP1R, HIP12 Huntingtin-interacting protein 1-related protein HIP1R 9026 ENSG00000130787 Hip1r (MGI:1352504)
chr12 122865327 122896164 12q24.31 12q24.31 610037 VPS37B Vacuolar protein sorting 37, yeast, homolog of, B VPS37B 79720 ENSG00000139722 Vps37b (MGI:1916724)
chr12 122917323 122975159 12q24 12q24.31 605453 ABCB9 ATP-binding cassette, subfamily B, member 9 ABCB9 23457 ENSG00000150967 Abcb9 (MGI:1861729)
chr12 122980059 122982912 12q24.31 12q24.31 607668 ARL6IP4 ADP-ribosylation-like factor 6 interacting protein 4 ARL6IP4 51329 ENSG00000182196 Arl6ip4 (MGI:1929500)
chr12 123233296 123257958 12q24.31 12q24.31 613541 C12orf65, COXPD7, SPG55 Chromosome 12 open reading frame 65 C12orf65 91574 ENSG00000130921 Combined oxidative phosphorylation deficiency 7, 613559 (3), Autosomal recessive; Spastic paraplegia 55, autosomal recessive, 615035 (3), Autosomal recessive 2810006K23Rik (MGI:1919900)
chr12 123152323 123244013 Chr.12 12q24.31 605501 MPHOSPH9, MPP9 M-phase phosphoprotein 9 MPHOSPH9 10198 ENSG00000051825 Mphosph9 (MGI:2443138)
chr12 123260969 123272315 12q24.31 12q24.31 602198 CDK2AP1, DOC1 CDK-associated protein 1 (deleted in oral cancer-1) CDK2AP1 8099 ENSG00000111328 Cdk2ap1 (MGI:1202069)
chr12 123289108 123365208 12q24.31 12q24.31 614274 SBNO1 Strawberry notch, Drosophila, homolog of, 1 SBNO1 55206 ENSG00000139697 Sbno1 (MGI:2384298)
chr12 123409889 123436732 12q24.31 12q24.31 614093 RILPL2, RLP2 RAB-interacting lysosomal protein-like 2 RILPL2 196383 ENSG00000150977 Rilpl2 (MGI:1933112)
chr12 123471072 123533717 12q24.31 12q24.31 614092 RILPL1, RLP1, GOSPEL RAB-interacting lysosomal protein-like 1 RILPL1 353116 ENSG00000188026 Rilpl1 (MGI:1922945)
chr12 123621022 123633775 12q24.31 12q24.31 606686 EIF2B1, EIF2BA Eukaryotic translation initiation factor 2B, subunit 1 EIF2B1 1967 ENSG00000111361 Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive Eif2b1 (MGI:2384802)
chr12 123633738 123662603 12q24.31 12q24.31 601750 GTF2H3, TFB4 General transcription factor IIH, polypeptide 3 GTF2H3 2967 ENSG00000111358 Gtf2h3 (MGI:1277143)
chr12 123671107 123708404 12q24.31 12q24.31 613846 TCTN2, TECT2, MKS8, JBTS24 Tectonic family, member 2 TCTN2 79867 ENSG00000168778 mutation identified in 1 MKS8 family Joubert syndrome 24, 616654 (3), Autosomal recessive; ?Meckel syndrome 8, 613885 (3), Autosomal recessive Tctn2 (MGI:1915228)
chr12 123712317 123761754 12q24.3 12q24.31 611716 ATP6V0A2, WSS, ARCL2A ATPase, H+ transporting, lysosomal, V0 subunit A2 ATP6V0A2 23545 ENSG00000185344 Cutis laxa, autosomal recessive, type IIA, 219200 (3), Autosomal recessive; Wrinkly skin syndrome, 278250 (3), Autosomal recessive Atp6v0a2 (MGI:104855)
chr12 123761994 123935719 12q24.31 12q24.31 605884 DNAH10 Dynein, axonemal, heavy chain 10 DNAH10 196385 ENSG00000197653 previously assigned to 13q14 Dnah10 (MGI:1860299)
chr12 123973214 124015438 12q24.2 12q24.31 617890 ZNF664, ZFOC1 Zinc finger protein 664 ZNF664 144348 ENSG00000179195 Zfp664 (MGI:2442505)
chr12 124289163 124316023 12q24.31 12q24.31 615927 FAM101A, CFM2 Family with sequence similarity 101, member A RFLNA 144347 ENSG00000178882 Rflna (MGI:1920371)
chr12 124324410 124567463 12q24 12q24.31 600848 NCOR2, SMRT Nuclear receptor corepressor 2 NCOR2 9612 ENSG00000196498 Ncor2 (MGI:1337080)
chr12 124777627 124863972 12q24.31 12q24.31 601040 SCARB1, CD36L1, CLA1, HDLQTL6 Scavenger receptor class B, member 1 (CD36 antigen-like 1) SCARB1 949 ENSG00000073060 [High density lipoprotein cholesterol level QTL6], 610762 (3) Scarb1 (MGI:893578)
chr12 124911644 124915040 12q24.3 12q24.31 191340 UBC Ubiquitin C UBC 7316 ENSG00000150991 Ubc (MGI:98889)
chr12 124946823 124989124 12q24.31 12q24.31 617362 DHX37, KIAA1517 DEAH box polypeptide 37 DHX37 57647 ENSG00000150990 Dhx37 (MGI:3028576)
chr12 124993647 125051844 12q24.31 12q24.31 615627 BRI3BP BRI3-binding protein BRI3BP 140707 ENSG00000184992 Bri3bp (MGI:1924059)
chr12 125025442 125027422 12q24.31 12q24.31 615622 THRIL, LINC1992, BRI3BPAS1 TNF- and HNRNPL-related immunoregulatory long noncoding RNA THRIL 102659353
chr12 125065366 125143332 12q24.31 12q24.31 614364 AACS, ACSF1 Acetoacetyl-CoA synthetase AACS 65985 ENSG00000081760 Aacs (MGI:1926144)
chr12 128793193 128823995 12q24.32 12q24.33 615806 SLC15A4, PHT1, PTR4 Solute carrier family 15 (oligopeptide transporter), member 4 SLC15A4 121260 ENSG00000139370 Slc15a4 (MGI:2140796)
chr12 129071725 129903666 12q24.3 12q24.33 611257 TMEM132D, KIAA1944, MOLT Transmembrane protein 132D TMEM132D 121256 ENSG00000151952 Tmem132d (MGI:3044963)
chr12 130162458 130165739 12q24.33 12q24.33 606147 FZD10 Frizzled, Drosophila, homolog of, 10 FZD10 11211 ENSG00000111432 Fzd10 (MGI:2136761)
chr12 130396132 130716360 12q24.33 12q24.33 611602 RIMBP2, KIAA0318 RIMS-binding protein 2 RIMBP2 23504 ENSG00000060709 Rimbp2 (MGI:2443235)
chr12 130337886 130412707 Chr.12 12q24.33 605571 PIWIL1 Piwi, Drosophila, homolog of PIWIL1 9271 ENSG00000125207 Piwil1 (MGI:1928897)
chr12 130789599 130839273 12q24.33 12q24.33 132350 STX2, EPIM, STX2C, STX2B, STX2A Epimorphin (syntaxin 2) STX2 2054 ENSG00000111450 Stx2 (MGI:108059)
chr12 130871878 130877677 12q24.3 12q24.33 601179 RAN, ARA24 Ras-related nuclear protein RAN 5901 ENSG00000132341 Ran (MGI:1333112)
chr12 130953906 131141468 12q24.33 12q24.33 613639 ADGRD1, GPR133, PGR25 Adhesion G protein-coupled receptor D1 ADGRD1 283383 ENSG00000111452 Adgrd1 (MGI:3041203)
chr12 131711086 131799737 12q24.33 12q24.33 601945 SFSWAP, SFRS8, SWAP Splicing factor, suppressor-of-white-apricot family SFSWAP 6433 ENSG00000061936 Sfswap (MGI:101760)
chr12 131828392 131851770 12q24.33 12q24.33 602285 MMP17 Matrix metalloproteinase 17 MMP17 4326 ENSG00000198598 Mmp17 (MGI:1346076)
chr12 131894733 131923161 12q24.3 12q24.33 603168 ULK1, UNC51 UNC51-like kinase 1 ULK1 8408 ENSG00000177169 Ulk1 (MGI:1270126)
chr12 131929199 131944039 12q24.33 12q24.33 608109 PUS1, MLASA1 Pseudourine synthase 1 PUS1 80324 ENSG00000177192 Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3), Autosomal recessive Pus1 (MGI:1929237)
chr12 131949919 132080465 12q24.33 12q24.33 606265 EP400, TNRC12, KIAA1498 p400 SWI2/SNF2-related protein EP400 57634 ENSG00000183495 Ep400 (MGI:1276124)
chr12 132144420 132152472 12q24.33 12q24.33 612819 NOC4L, NOC4 Nucleolar complex-associated protein 4, S. cerevisiae, homolog of NOC4L 79050 ENSG00000184967 Noc4l (MGI:2140843)
chr12 132196371 132329318 12q24.33 12q24.33 606251 GALNT9, GALNACT9 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 GALNT9 50614 ENSG00000182870 REc Galnt9 (MGI:2677965)
chr12 132471570 132476637 12q24.3 12q24.33 601932 MUC8 Mucin 8, tracheobronchial MUC8 100129528
chr12 132618779 132623735 12q24.33 12q24.33 600844 P2RX2, P2X2, DFNA41 Purinergic receptor P2X, ligand-gated ion channel, 2 P2RX2 22953 ENSG00000187848 Deafness, autosomal dominant 41, 608224 (3), Autosomal dominant P2rx2 (MGI:2665170)
chr12 132623757 132687523 12q24.3 12q24.33 174762 POLE1, CRCS12, FILS Polymerase (DNA directed), epsilon-1 POLE 5426 ENSG00000177084 {Colorectal cancer, susceptibility to, 12}, 615083 (3), Autosomal dominant; FILS syndrome, 615139 (3), Autosomal recessive Pole (MGI:1196391)
chr12 132687605 132704990 12q24.33 12q24.33 617399 PXMP2 Peroxisomal membrane protein 2 PXMP2 5827 ENSG00000176894 Pxmp2 (MGI:107487)
chr12 132710806 132722736 12q24.33 12q24.33 614939 PGAM5 Phosphogycerate mutase family, member 5 PGAM5 192111 ENSG00000247077 Pgam5 (MGI:1919792)
chr12 132725666 132761887 12q24.33 12q24.33 616062 ANKLE2, LEM4, KIAA0692, MCPH16 Ankyrin repeat- and LEM domain-containing protein 2 ANKLE2 23141 ENSG00000176915 mutation identified in 1 MCPH16 family ?Microcephaly 16, primary, autosomal recessive, 616681 (3), Autosomal recessive Ankle2 (MGI:1261856)
chr12 132768908 132829130 Chr.12 12q24.33 602581 GOLGA3 Golgi autoantigen, golgin subfamily A, 3 GOLGA3 2802 ENSG00000090615 Golga3 (MGI:96958)
chr12 132840351 132887617 12q24.33 12q24.33 605209 CHFR Checkpoint protein with FHA and ring-finger domains CHFR 55743 ENSG00000072609 Chfr (MGI:2444898)
chr12 132986347 133027101 12q24.33 12q24.33 194537 ZNF26 Zinc finger protein-26 (KOX20) ZNF26 7574 ENSG00000198393
chr12 133079469 133107673 12q24.32-q24.33 12q24.33 604082 ZNF140 Zinc finger protein-140 ZNF140 7699 ENSG00000196387
chr12 133130627 133159464 12q13-qter 12q24.33 194538 ZNF10, KOX1 Zinc finger protein-10 (KOX 1) ZNF10 7556 ENSG00000256223 same 300kb fragment as ZNF26
chr12 133181408 133207111 12q24.3 12q24.33 604753 ZNF268 Zinc finger protein 268 ZNF268 10795 ENSG00000090612
chr12 0 133275309 Chr.12 191120 TUBAL1 Tubulin, alpha-like-1
chr13 0 27200000 13pter-q12.13 610158 FECD2, FCD1 Corneal dystrophy, Fuchs endothelial, 2 100188278 max lod at D13S1304 Corneal dystrophy, Fuchs endothelial, 2, 610158 (2), Autosomal dominant
chr13 4600000 10100000 13p12 180450 RNR1 Ribosomal RNA-1 RNR1 6052
chr13 17700000 114364328 13q 604595 CLQTL1, CLF Cholesterol level quantitative trait locus 1 54501 [Cholesterol level QTL 1], 604595 (2)
chr13 18900000 22600000 13q12.11 612312 ADHD6 Attention deficit-hyperactivity disorder, susceptibility to, 6 100190791 max lod at rs1974047 {Attention deficit-hyperactivity disorder, susceptibility to, 6}, 612312 (2)
chr13 18900000 54700000 13q12-q14 605844 ATOD5 Dermatitis, atopic, 5 117188 max lod at D13S218 {Dermatitis, atopic, susceptibility to, 5}, 605844 (2)
chr13 18900000 22600000 13q12.11 609384 CFEOM3C, FEOM4 Fibrosis of extraocular muscles, congenital, 3C Fibrosis of extraocular muscles, congenital, 3C, 609384 (2), Autosomal dominant
chr13 18900000 31600000 13q12 608557 MCI2 Myocardial infarction, susceptibility to, 2 100233226 defined by 4-SNP haplotype HapA {Myocardial infarction, susceptibility to, 2}, 608557 (2)
chr13 19173769 19181851 13q11 13q12.11 602528 TUBA2 Tubulin, alpha 2 TUBA3C 7278 ENSG00000198033
chr13 19422876 19561573 13q12.11 13q12.11 606791 TPTE2, TPIP Transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 TPTE2 93492 ENSG00000132958 Tpte (MGI:2446460)
chr13 19633647 19673458 13q12.11 13q12.11 611626 MPHOSPH8, TWA3 M-phase phosphoprotein 8 MPHOSPH8 54737 ENSG00000196199 Mphosph8 (MGI:1922589)
chr13 19674751 19783035 13q12.11 13q12.11 612408 PSPC1, PSP1 Paraspeckle component 1 PSPC1 55269 ENSG00000121390 Pspc1 (MGI:1913895)
chr13 19823481 19863635 13q12.11 13q12.11 616443 ZMYM5, ZNF237, ZNF198L1 Zinc finger, MYM-type 5 ZMYM5 9205 ENSG00000132950 Zmym5 (MGI:3041170)
chr13 19957405 20091844 13q12.11 13q12.11 602221 ZMYM2, ZNF198, RAMP, FIM Zinc finger, MYM-type 2 ZMYM2 7750 ENSG00000121741 Zmym2 (MGI:1923257)
chr13 20138251 20161326 13q11 13q12.11 121015 GJA3, CX46, CZP3, CAE3, CTRCT14 Gap junction protein, alpha-3, 46kD (connexin 46) GJA3 2700 ENSG00000121743 Cataract 14, multiple types, 601885 (3), Autosomal dominant Gja3 (MGI:95714)
chr13 20187462 20192974 13q11-q12 13q12.11 121011 GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID Gap junction protein, beta-2, 26kD (connexin 26) GJB2 2706 ENSG00000165474 Bart-Pumphrey syndrome, 149200 (3), Autosomal dominant; Deafness, autosomal dominant 3A, 601544 (3), Autosomal dominant; Deafness, autosomal recessive 1A, 220290 (3), Autosomal recessive; Hystrix-like ichthyosis with deafness, 602540 (3), Autosomal dominant; Keratitis-ichthyosis-deafness syndrome, 148210 (3), Autosomal dominant; Keratoderma, palmoplantar, with deafness, 148350 (3), Autosomal dominant; Vohwinkel syndrome, 124500 (3), Autosomal dominant Gjb2 (MGI:95720)
chr13 20221961 20232394 13q12 13q12.11 604418 GJB6, CX30, DFNA3B, DFNB1B, ECTD2, HED2 Gap junction protein, beta-6 (connexin-30) GJB6 10804 ENSG00000121742 Deafness, autosomal dominant 3B, 612643 (3), Autosomal dominant; Deafness, autosomal recessive 1B, 612645 (3), Autosomal recessive; Deafness, digenic GJB2/GJB6, 220290 (3), Autosomal recessive; Ectodermal dysplasia 2, Clouston type, 129500 (3), Autosomal dominant Gjb6 (MGI:107588)
chr13 20403666 20525872 13q12.11 13q12.11 609877 CRYL1 Crystallin, lambda-1 CRYL1 51084 ENSG00000165475 Cryl1 (MGI:1915881)
chr13 20566445 20691436 13q12.1 13q12.11 600595 IFT88, D13S1056E, TG737 Intraflagellar transport 88, Chlamydomonas, homolog of IFT88 8100 ENSG00000032742 Ift88 (MGI:98715)
chr13 20701104 20723099 13p11 13q12.11 607587 IL17D Interleukin 17D IL17D 53342 ENSG00000172458 ?associated with Hodgkin lymphoma Il17d (MGI:2446510)
chr13 20728930 20773957 13q12.11 13q12.11 617793 EEF1AKMT1, N6AMT2 EEF1A lysine methyltransferase 1 EEF1AKMT1 221143 ENSG00000150456 Eef1akmt1 (MGI:1915293)
chr13 20973035 21061582 13q11-q12 13q12.11 604861 LATS2 Large tumor suppressor, Drosophila, homolog of, 2 LATS2 26524 ENSG00000150457 Lats2 (MGI:1354386)
chr13 21140513 21149084 13q12.11 13q12.11 602949 SAP18 Sin3-associated polypeptide, 18kD SAP18 10284 ENSG00000150459 Sap18b,Sap18 (MGI:3704317,MGI:1277978)
chr13 21176232 21179083 13q12.11 13q12.11 611997 MRP63 Mitochondrial ribosomal protein 63 MRPL57 78988 ENSG00000173141 10 pseudogenes Mrpl57 (MGI:1915090)
chr13 21492688 21604215 13q12.11 13q12.11 610632 MICU2, EFHA1 Mitochondrial calcium uptake protein 2 MICU2 221154 ENSG00000165487 Micu2 (MGI:1915764)
chr13 21671075 21704500 13q11-q12 13q12.11 600921 FGF9, SYNS3 Fibroblast growth factor-9 (glia-activating factor) FGF9 2254 ENSG00000102678 Multiple synostoses syndrome 3, 612961 (3), Autosomal dominant Fgf9 (MGI:104723)
chr13 22600000 24900000 13q12.12 614166 MYP20 Myopia 20, autosomal dominant 100682326 associated with rs9318086 Myopia 20, autosomal dominant, 614166 (2)
chr13 23160307 23325164 13q12 13q12.12 608896 SGCG, LGMD2C, DMDA1, SCG3 Sarcoglycan, gamma (35kD dystrophin-associated glycoprotein) SGCG 6445 ENSG00000102683 Muscular dystrophy, limb-girdle, type 2C, 253700 (3), Autosomal recessive Sgcg (MGI:1346524)
chr13 23328822 23433727 13q12 13q12.12 604490 SACS, ARSACS Sacsin SACS 26278 ENSG00000151835 Spastic ataxia, Charlevoix-Saguenay type, 270550 (3), Autosomal recessive
chr13 23570247 23676104 13q12.11-q12.3 13q12.12 606122 TAJ, TROY Toxicity and JNK inducer TNFRSF19 55504 ENSG00000127863 Tnfrsf19 (MGI:1352474)
chr13 23730188 23889447 13q12 13q12.12 602241 MIPEP, COXPD31 Mitochondrial intermediate peptidase MIPEP 4285 ENSG00000027001 Combined oxidative phosphorylation deficiency 31, 617228 (3), Autosomal recessive Mipep (MGI:1917728)
chr13 23888886 23892103 13q12.12 13q12.12 617122 C1QTNF9BAS1, PCOTH C1QTNF9B antisense RNA 1 PCOTH 542767 ENSG00000205861
chr13 23891098 23897501 13q12.12 13q12.12 614148 C1QTNF9B, CTRP9B C1q- and tumor necrosis factor-related protein 9B C1QTNF9B 387911 ENSG00000205863 C1qtnf9 (MGI:3045252)
chr13 23979625 24307073 13q12.12 13q12.12 613324 SPATA13, ASEF2 Spermatogenesis-associated protein 13 SPATA13 221178 ENSG00000182957 Spata13 (MGI:104838)
chr13 24307165 24322530 13q12.12 13q12.12 614285 C1QTNF9A, CTRP9, C1QTNF9 C1q- and tumor necrosis factor-related protein 9A C1QTNF9 338872 ENSG00000240654
chr13 24420929 24512992 13q11 13q12.12 607519 PARP4, ADPRTL1, VPARP, KIAA0177 Poly(ADP-ribose) polymerase 4 PARP4 143 ENSG00000102699 Parp4 (MGI:2685589)
chr13 24680410 24711784 13q12.1-q12.3 13q12.12 182360 ATP12A, ATP1AL1 ATPase, H+/K+ transporting, nongastric, alpha polypeptide ATP12A 479 ENSG00000075673 Atp12a (MGI:1926943)
chr13 24747640 24888815 13q12.1 13q12.12 605793 RNF17 RING finger protein-17 RNF17 56163 ENSG00000132972 Rnf17 (MGI:1353419)
chr13 24882273 24922888 13q12.2 13q12.12-q12.13 609279 CENPJ, CPAP, MCPH6, SCKL4 Centromeric protein J CENPJ 55835 ENSG00000151849 mutation identified in 1 SCKL4 family Microcephaly 6, primary, autosomal recessive, 608393 (3), Autosomal recessive; ?Seckel syndrome 4, 613676 (3), Autosomal recessive Cenpj (MGI:2684927)
chr13 25161678 25172450 13q12.13 13q12.13 614659 FAM123A, AMER2 Family with sequence similarity 123, member A (APC membrane recruitment protein 2) AMER2 219287 ENSG00000165566 Amer2 (MGI:1919375)
chr13 25246200 25287565 13q12 13q12.13 603561 MTMR6 Myotubularin-related protein 6 MTMR6 9107 ENSG00000139505 Mtmr6 (MGI:2145637)
chr13 25301083 25349794 13q12.1 13q12.13 607615 NUP58, NUPL1, KIAA0410 Nucleoporin 58kDa NUP58 9818 ENSG00000139496 Nupl1 (MGI:1919094)
chr13 25372010 26025850 13q12 13q12.13 605870 ATP8A2, ATPIB, CAMRQ4 ATPase, class I, type 8A, member 2 ATP8A2 51761 ENSG00000132932 ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3), Autosomal recessive Atp8a2 (MGI:1354710)
chr13 26044596 26051059 13q12.13 13q12.13 617324 SHISA2, C13orf13, TMEM46 Shisa family, member 2 SHISA2 387914 ENSG00000180730 Shisa2 (MGI:2444716)
chr13 26132114 26223084 13q12.11 13q12.13 604242 RNF6 RING finger protein-6 RNF6 6049 ENSG00000127870 Esophageal carcinoma, somatic, 133239 (3) Rnf6 (MGI:1921382)
chr13 26254103 26405237 13q12 13q12.13 603184 CDK8 Cyclin-dependent kinase 8 CDK8 1024 ENSG00000132964 Cdk8 (MGI:1196224)
chr13 26539138 26688944 13q12 13q12.13 605068 WASF3, WAVE3, SCAR3 WAS protein family member 3 WASF3 10810 ENSG00000132970 Wasf3 (MGI:2658986)
chr13 26755199 26760785 13q12 13q12.13 600752 GPR12 G protein-coupled receptor-12 GPR12 2835 ENSG00000132975 Gpr12 (MGI:101909)
chr13 27066149 27171895 13q12.13 13q12.13 603091 USP12, UBH1 Ubiquitin-specific protease 12 USP12 219333 ENSG00000152484 Usp12 (MGI:1270128)
chr13 27200000 39500000 13q12.2-q13 157900 MBS, MBS1 Moebius syndrome MBS1 4156 ?Moebius syndrome, 157900 (2), Autosomal dominant, Isolated cases
chr13 27251554 27256567 13q12.2 13q12.2 603636 RPL21, HYPT12 Ribosomal protein L21 RPL21 6144 ENSG00000122026 Hypotrichosis 12, 615885 (3), Autosomal dominant Rpl21 (MGI:1278340)
chr13 27270326 27273766 13q12.2 13q12.2 612403 RASL11A RAS-like, family 11, member A RASL11A 387496 ENSG00000122035 Rasl11a (MGI:1916145)
chr13 27424543 27435708 13q12.3-q13.1 13q12.2 600860 GTF3A, TFIIIA General transcription factor IIIA GTF3A 2971 ENSG00000122034 Gtf3a (MGI:1913846)
chr13 27545912 27621105 13q12.2 13q12.2 609733 LNX2, PDZRN1 Ligand of numb protein X2 LNX2 222484 ENSG00000139517 Lnx2 (MGI:2155959)
chr13 27620742 27667421 13q12.2 13q12.2 613715 POLR1D, RPA16, RPAC2, TCS2 Polymerase I, RNA, subunit D POLR1D 51082 ENSG00000186184 Treacher Collins syndrome 2, 613717 (3), Autosomal recessive, Autosomal dominant Polr1d (MGI:108403)
chr13 27792642 27793951 13q12.2 13q12.2 616542 GSX1, GSH1 GS homeobox 1 GSX1 219409 ENSG00000169840 Gsx1 (MGI:95842)
chr13 27919981 27926313 13q12.1 13q12.2 600733 PDX1, IPF1, MODY4, PAGEN1 Pancreas/duodenum homeobox protein 1 PDX1 3651 ENSG00000139515 {Diabetes mellitus, type II, susceptibility to}, 125853 (3), Autosomal dominant; MODY, type IV, 606392 (3); Pancreatic agenesis 1, 260370 (3), Autosomal recessive Pdx1 (MGI:102851)
chr13 27960917 27969367 13q12.3 13q12.2 600297 CDX2, CDX3 Caudal type homeo box transcription factor 2 CDX2 1045 ENSG00000165556 Cdx2 (MGI:88361)
chr13 27978105 27988636 13q12.2 13q12.2 615804 URAD Ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase URAD 646625 ENSG00000183463 Urad (MGI:3647519)
chr13 28003273 28100591 13q12 13q12.2 136351 FLT3 fms-related tyrosine kinase-3 FLT3 2322 ENSG00000122025 Leukemia, acute lymphoblastic, somatic, 613065 (3); Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3); Leukemia, acute myeloid, somatic, 601626 (3) Flt3 (MGI:95559)
chr13 28135020 28295337 13q12.2 13q12.2 617448 PAN3 PABP-dependent poly(A) nuclease 3 PAN3 255967 ENSG00000152520 Pan3 (MGI:1919837)
chr13 28300345 28495127 13q12 13q12.3 165070 FLT1 fms-related tyrosine kinase-1 (vascular endothelial growth factor/vascular permeability factor receptor) FLT1 2321 ENSG00000102755 150kb from FLT3 Flt1 (MGI:95558)
chr13 28659003 28678956 13q12.3 13q12.3 613386 POMP, UMP1 Proteasome maturation protein POMP 51371 ENSG00000132963 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3), Autosomal recessive Pomp (MGI:1913787)
chr13 28700079 28719012 13q12.3 13q12.3 616764 SLC46A3 Solute carrier family 46, member 3 SLC46A3 283537 ENSG00000139508 Slc46a3 (MGI:1918956)
chr13 29509409 29595687 13q12.3 13q12.3 104615 SLC7A1, ATRC1 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 SLC7A1 6541 ENSG00000139514 distal to ATP1AL1 Slc7a1 (MGI:88117)
chr13 29764407 29850682 13q12-q13 13q12.3 604711 UBL3 Ubiquitin-like 3 UBL3 5412 ENSG00000122042 Ubl3 (MGI:1344373)
chr13 30200025 30307500 13q12.3 13q12.3 614764 KATNAL1 Katanin p60 subunit A-like 1 KATNAL1 84056 ENSG00000102781 Katnal1 (MGI:2387638)
chr13 30457915 30617596 13q12 13q12.3 163905 HMGB1, HMG1 High-mobility group box 1 (high-mobility group (nonhistone chromosomal) protein 1) HMGB1 3146 ENSG00000189403
chr13 30617678 30660769 13q12.3 13q12.3 617470 USPL1 Ubiquitin-specific peptidase-like 1 USPL1 10208 ENSG00000132952 Uspl1 (MGI:2442342)
chr13 30713477 30764427 13q12 13q12.3 603700 ALOX5AP, FLAP Arachidonate 5-lipoxygenase-activating protein ALOX5AP 241 ENSG00000132965 {Stroke, susceptibility to}, 601367 (3), Multifactorial Alox5ap (MGI:107505)
chr13 31134973 31162387 13q12.3 13q12.3 610703 HSPH1, HSP105, KIAA0201 Heat-shock 105/110kD protein 1 HSPH1 10808 ENSG00000120694 Hsph1 (MGI:105053)
chr13 31199974 31332275 13q12.3 13q12.3 610308 B3GLCT, B3GALTL, B3GTL Beta 3-glucosyltransferase B3GLCT 145173 ENSG00000187676 Peters-plus syndrome, 261540 (3), Autosomal recessive B3glct (MGI:2685903)
chr13 31600000 54700000 13q13-q14.3 600631 ENUR1 Enuresis, nocturnal, 1 ENUR1 2031 Enuresis, nocturnal, 1, 600631 (2), Autosomal dominant
chr13 31600000 33400000 13q13.1 612089 HPRHP Hypophosphatemic rickets and hyperparathyroidism 100188880 ?due to altered KLOTHO expression Hypophosphatemic rickets and hyperparathyroidism, 612089 (2), Autosomal dominant
chr13 31739541 31802871 13q13.1 13q13.1 606655 LGR8, GREAT Leucine-rich repeat-containing G protein-coupled receptor 8 RXFP2 122042 ENSG00000133105 Rxfp2 (MGI:2153463)
chr13 32031299 32299121 13q13.1 13q13.1 614818 FRY, C13orf14 Furry, Drosophila, homolog of FRY 10129 ENSG00000073910 Fry (MGI:2443895)
chr13 32315479 32399671 13q12.3 13q13.1 600185 BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 BRCA2 gene BRCA2 675 ENSG00000139618 {Breast cancer, male, susceptibility to}, 114480 (3), Autosomal dominant; {Breast-ovarian cancer, familial, 2}, 612555 (3), Autosomal dominant; Fanconi anemia, complementation group D1, 605724 (3), Autosomal recessive; {Glioblastoma 3}, 613029 (3), Autosomal recessive; {Medulloblastoma}, 155255 (3), Autosomal recessive, Autosomal dominant; {Pancreatic cancer 2}, 613347 (3); {Prostate cancer}, 176807 (3), Autosomal dominant; Wilms tumor, 194070 (3), Autosomal dominant, Somatic mutation Brca2 (MGI:109337)
chr13 32432487 32542709 13q13.1 13q13.1 615788 N4BP2L2, PFAAP5 NEDD4-binding protein 2-like 2 N4BP2L2 10443 ENSG00000244754 N4bp2l2 (MGI:2687207)
chr13 32586426 32778019 13q12.3 13q13.1 605333 AS3 Androgen-induced prostate proliferative shutoff-associated protein PDS5B 23047 ENSG00000083642 Pds5b (MGI:2140945)
chr13 33016062 33066144 13q12 13q13.1 604824 KL, KLOTHO Klotho KL 9365 ENSG00000133116 {Coronary artery disease, susceptibility to} (3); Tumoral calcinosis, hyperphosphatemic, 211900 (3), Autosomal recessive Kl (MGI:1101771)
chr13 33103134 33676834 13q12.3 13q13.1-q13.2 609866 STARD13, DLC2 Start domain-containing protein 13 STARD13 90627 ENSG00000133121 Stard13 (MGI:2385331)
chr13 33818068 33973945 13q12.3-q13 13q13.2 600405 RFC3 Replication factor C3, 38kD (activator 1, 38kD) RFC3 5983 ENSG00000133119 Rfc3 (MGI:1916513)
chr13 34900000 39500000 13q13.3 612796 IBD27 Inflammatory bowel disease 27 100302059 {Inflammatory bowel disease 27}, 612796 (2)
chr13 34900000 72800000 13q13.3-q21 263450 PAPA5 Polydactyly, postaxial, type A5 101241897 between D13S1288 and D13S632 Polydactyly, postaxial, type A5, 263450 (2), Autosomal recessive
chr13 34942286 35672736 13q13.2 13q13.3 604889 NBEA Neurobeachin NBEA 26960 ENSG00000172915 site of FRA13A Nbea (MGI:1347075)
chr13 35473788 35476694 13q13 13q13.3 601280 MAB21L1 mab-21 (C. elegans)-like 1 MAB21L1 4081 ENSG00000180660 Mab21l1 (MGI:1333773)
chr13 35768651 36132019 13q13 13q13.3 604742 DCLK1, DCAMKL1, CLICK1, CL1, KIAA0369 Doublecortin-like kinase 1 DCLK1 9201 ENSG00000133083 Dclk1 (MGI:1330861)
chr13 36168207 36214614 13q13.3 13q13.3 616066 SOHLH2 Spermatogenesis- and oogenesis-specific basic helix-loop-helix protein 2 SOHLH2 54937 ENSG00000120669
chr13 36301637 36370179 13q12.3 13q13.3 607111 SPG20 Spartin SPART 23111 ENSG00000133104 Troyer syndrome, 275900 (3), Autosomal recessive
chr13 36430487 36442881 13q12.3-q13 13q13.3 604036 CCNA1 Cyclin A1 CCNA1 8900 ENSG00000133101 Ccna1 (MGI:108042)
chr13 36819201 36829602 13q14 13q13.3 601861 RFXAP Regulatory factor X-associated protein RFXAP 5994 ENSG00000133111 Bare lymphocyte syndrome, type II, complementation group D, 209920 (3), Autosomal recessive Rfxap (MGI:2180854)
chr13 36844830 36920720 13q12-q14 13q13.3 603295 MADH9, SMAD9, MADH6, PPH2 Mothers against decapentaplegic, Drosophila, homolog of, 9 SMAD9 4093 ENSG00000120693 Pulmonary hypertension, primary, 2, 615342 (3), Autosomal dominant Smad9 (MGI:1859993)
chr13 36949769 36999366 13q13.3 13q13.3 604565 ALG5 Alg5, S. cerevisiae, homolog of ALG5 29880 ENSG00000120697 Alg5 (MGI:1913498)
chr13 37000372 37009613 13q13.1 13q13.3 606019 EXOSC8, OIP2, RRP43, PCH1C Exosome component 8 EXOSC8 11340 ENSG00000120699 Pontocerebellar hypoplasia, type 1C, 616081 (3), Autosomal recessive Exosc8 (MGI:1916889)
chr13 37009311 37059713 13q13.3 13q13.3 613417 FAM48A, P38IP, C13orf19 Family with sequence similarity 48, member A SUPT20H 55578 ENSG00000102710
chr13 37562581 37598843 13q13.3 13q13.3 608777 POSTN, OSF2, PN Periostin POSTN 10631 ENSG00000133110 Postn (MGI:1926321)
chr13 37632062 37870424 13q13.1-q13.2 13q13.3 603651 TRPC4, TRP4 Transient receptor potential cation channel, subfamily C, member 4 TRPC4 7223 ENSG00000133107 Trpc4 (MGI:109525)
chr13 38349770 38363006 13q13.3 13q13.3 610553 UFM1, HLD14 Ubiquitin-fold modifier 1 UFM1 51569 ENSG00000120686 Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive Ufm1 (MGI:1915140)
chr13 38687035 38887130 13q13.3 13q13.3 608945 FREM2, FRASRS2 FRAS1-related extracellular matrix protein 2 FREM2 341640 ENSG00000150893 Fraser syndrome 2, 617666 (3), Autosomal recessive Frem2 (MGI:2444465)
chr13 38965924 38990858 13q13 13q13.3 608327 STOML3, SRO Stomatin-like protein 3 STOML3 161003 ENSG00000133115 Stoml3 (MGI:2388072)
chr13 39342891 39603218 13q12 13q13.3-q14.1 606710 LHFP Lipoma HMGIC fusion partner LHFPL6 10186 ENSG00000183722 Lhfp (MGI:1920048)
chr13 39500000 54700000 13q14 606643 BMIQ2 Body mass index quantitative trait locus 2 BMIQ2 192149 max lod at D13S257 [Body mass index QTL2], 606643 (2)
chr13 39500000 54700000 13q14 612110 BMND9 Bone mineral density quantitative trait locus 9 100188882 associated with rs9594759 [Bone mineral density QTL 9], 612110 (2)
chr13 39500000 54700000 13q14 109543 CLLS2, D13S25, DBM Leukemia, chronic lymphocytic, susceptibility to, 2 8101 >530kb telomeric to RB1 {Leukemia, chronic lymphocytic, susceptibility to, 2}, 109543 (2), Autosomal dominant
chr13 39500000 54700000 13q14 613884 DEL13q14, C13DELq14 Chromosome 13q14 deletion syndrome Chromosome 13q14 deletion syndrome, 613884 (4), Autosomal dominant, Isolated cases
chr13 39500000 54700000 13q14 109350 GER Gastroesophageal reflux 59330 Gastroesophageal reflux, 109350 (2), Autosomal dominant
chr13 39500000 44600000 13q14.11 613407 LPRS6 Leprosy, susceptibility to, 6 100499166 associated with rs9533634 and rs3764147 {Leprosy, susceptibility to, 6}, 613407 (2)
chr13 39500000 54700000 13q14 601499 RIEG2, RGS2 Rieger syndrome, type 2 RIEG2 6012 Rieger syndrome, type 2, 601499 (2), Autosomal dominant
chr13 39500000 54700000 13q14 607584 SPG24 Spastic paraplegia 24, autosomal recessive SPG24 338090 Spastic paraplegia 24, autosomal recessive, 607584 (2), Autosomal recessive
chr13 39500000 54700000 13q14 194370 XRS X-ray sensitivity 8102
chr13 39655626 39791664 13q13.3 13q14.11 606977 COG6, COD2, KIAA1134, CDG2L, SHNS Component of oligomeric golgi complex 6 COG6 57511 ENSG00000133103 Congenital disorder of glycosylation, type IIl, 614576 (3), Autosomal recessive; Shaheen syndrome, 615328 (3), Autosomal recessive Cog6 (MGI:1914792)
chr13 40555663 40666596 13q14.1 13q14.11 136533 FOXO1A, FKHR Forkhead box O1A (forkhead in rhabdomyosarcoma) FOXO1 2308 ENSG00000150907 chimeric with PAX3 in t(2;13); fuses with PAX3 Rhabdomyosarcoma, alveolar, 268220 (3), Autosomal recessive Foxo1 (MGI:1890077)
chr13 40729295 40771210 13q13.3 13q14.11 611992 MRPS31 Mitochondrial ribosomal protein S31 MRPS31 10240 ENSG00000102738 4 pseudogenes Mrps31 (MGI:1913153)
chr13 40789410 40812459 13q14 13q14.11 603861 SLC25A15, ORNT1, HHH Solute carrier family 25 (mitochondrial carrier), member 15 (ornithine transporter 1) SLC25A15 10166 ENSG00000102743 with deficiency of factors VII and X in 3 unrelated cases Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3), Autosomal recessive Slc25a15 (MGI:1342274)
chr13 40931918 41061383 13q14.11 13q14.11 189973 ELF1, RIA1, EFTUD1 E74-like factor 1 ELF1 1997 ENSG00000120690 Elf1 (MGI:107180)
chr13 41061256 41084011 13q14.11 13q14.11 604981 WBP4, FBP21 WW domain-containing binding protein 4 WBP4 11193 ENSG00000120688 Wbp4 (MGI:109568)
chr13 41127572 41132799 13q14.11 13q14.11 617738 KBTBD6 Kelch repeat- and BTB domain-containing protein 6 KBTBD6 89890 ENSG00000165572 Kbtbd6 (MGI:3643058)
chr13 41189833 41194583 13q14.11 13q14.11 617739 KBTBD7 Kelch repeat- and BTB domain-containing protein 7 KBTBD7 84078 ENSG00000120696 Kbtbd7 (MGI:2685141)
chr13 41216368 41312037 13q14.1-q14.3 13q14.11 604601 MTRF1 Translational release factor, mitochondrial, 1 MTRF1 9617 ENSG00000120662 Mtrf1 (MGI:2384815)
chr13 41457405 41470876 13q12-q14 13q14.11 610077 RGC32 Response gene to complement 32 RGCC 28984 ENSG00000102760 Rgcc (MGI:1913464)
chr13 41566824 41961745 13q14.11 13q14.11 617509 VWA8, KIAA0564 von Willebrand factor A domain-containing protein 8 VWA8 23078 ENSG00000102763 Vwa8 (MGI:1919008)
chr13 42040035 42256583 13q14.11 13q14.11 604071 DGKH Diacylglycerol kinase, eta, 130kD DGKH 160851 ENSG00000102780 Dgkh (MGI:2444188)
chr13 42271469 42323266 13q14.11 13q14.11 604696 AKAP11, AKAP220 A-kinase anchor protein 11 AKAP11 11215 ENSG00000023516 Akap11 (MGI:2684060)
chr13 42562735 42608012 13q14 13q14.11 602642 TNFSF11, OPGL, TRANCE, OPTB2 Tumor necrosis factor ligand superfamily, member 11 (osteoprotegerin ligand) TNFSF11 8600 ENSG00000120659 Osteopetrosis, autosomal recessive 2, 259710 (3), Autosomal recessive Tnfsf11 (MGI:1100089)
chr13 42886387 42992311 13q13.3 13q14.11 607441 EPSTI1 Epithelial stromal interaction 1 EPSTI1 94240 ENSG00000133106 Epsti1 (MGI:1915168)
chr13 43023225 43109169 13q14.1 13q14.11 615339 DNAJC15, MCJ DNAJ/HSP40 homolog, subfamily C, member 15 DNAJC15 29103 ENSG00000120675 Dnajc15 (MGI:1913398)
chr13 43213132 43786979 13q14.11 13q14.11 610914 ENOX1, CNOX ECTO-NOX disulfide-thiol exchanger 1 ENOX1 55068 ENSG00000120658 Enox1 (MGI:2444896)
chr13 43821958 43880022 13q14.11 13q14.11 613408 CCDC122 Coiled-coil domain-containing protein 122 CCDC122 160857 ENSG00000151773 Ccdc122 (MGI:1918358)
chr13 43879177 43893931 13q14.11 13q14.11 613409 LACC1, C13orf31 Laccase (multicopper reductase) domain-containing protein 1 LACC1 144811 ENSG00000179630 Lacc1 (MGI:2445077)
chr13 44432142 44576824 13q14 13q14.11 607715 TSC22D1, TSC22 TSC22 domain family, member 1 TSC22D1 8848 ENSG00000102804 Tsc22d1 (MGI:109127)
chr13 44939248 44989482 13q14 13q14.12 604354 NUFIP1, NUFIP Nuclear fragile X mental retardation protein-interacting protein 1 NUFIP1 26747 ENSG00000083635 pseudogene on 6q12 Nufip1 (MGI:1351474)
chr13 45119829 45284104 13q14.12-q14.13 13q14.12-q14.13 189969 GTF2F2, TF2F2, RAP30 General transcription factor IIF, polypeptide 2, 30kD GTF2F2 2963 ENSG00000188342 Gtf2f2 (MGI:1915955)
chr13 45333470 45341283 13q12-q14 13q14.13 600763 TPT1, HRF Tumor protein, translationally-controlled 1 TPT1 7178 ENSG00000133112 Tpt1 (MGI:104890)
chr13 45393315 45434015 13q14.11 13q14.13 610793 SLC25A30, KMCP1 Solute carrier family 25 (mitochondrial carrier, kidney), member 30 SLC25A30 253512 ENSG00000174032 Slc25a30 (MGI:1914804)
chr13 45464894 45536697 13q14.12 13q14.13 606975 COG3, SEC34 Component of oligomeric golgi complex 3 COG3 83548 ENSG00000136152 Cog3 (MGI:2450151)
chr13 45780269 45851710 13q14.12 13q14.13 615609 SIAH3 SIAH E3 ubiquitin protein ligase family, member 3 SIAH3 283514 ENSG00000215475 Siah3 (MGI:2685758)
chr13 45954464 46052793 13q14.13 13q14.13 616453 ZC3H13, KIAA0853 Zinc finger CCCH domain-containing protein 13 ZC3H13 23091 ENSG00000123200
chr13 46053065 46105075 13q14.11 13q14.13 603101 CPB2, CPU, TAFI Carboxypeptidase B2, plasma (carboxypeptidase U) CPB2 1361 ENSG00000080618 Cpb2 (MGI:1891837)
chr13 46125922 46182323 13q14.1-q14.3 13q14.13 153430 LCP1 Lymphocyte cytosolic protein-1 (plasmin) LCP1 3936 ENSG00000136167 Lcp1 (MGI:104808)
chr13 46553160 46753040 13q14 13q14.1-q14.2 610368 LRCH1, KIAA1016 Leucine-rich repeats and calponin homology domain-containing 1 LRCH1 23143 ENSG00000136141 Lrch1 (MGI:2443390)
chr13 46700000 46700000 13q14.2-q14.1 608049 AUTS3 Autism, susceptibility to, 3 387577 {Autism susceptibility 3}, 608049 (2), Isolated cases, Multifactorial
chr13 46771255 46797699 13q14.11 13q14.2 133280 ESD Esterase D; S-formylglutathione hydrolase ESD 2098 ENSG00000139684 proximal to RB1, WND Esd,Esd-ps (MGI:3781082,MGI:95421)
chr13 46831541 46897075 13q14-q21 13q14.2 182135 HTR2A 5-hydroxytryptamine (serotonin) receptor-2A HTR2A 3356 ENSG00000102468 {Alcohol dependence, susceptibility to}, 103780 (3), Multifactorial; {Anorexia nervosa, susceptibility to}, 606788 (3); {Major depressive disorder, response to citalopram therapy in}, 608516 (3); {Obsessive-compulsive disorder, susceptibility to}, 164230 (3), Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant; {Seasonal affective disorder, susceptibility to}, 608516 (3) Htr2a (MGI:109521)
chr13 47942655 48001325 13q14.2 13q14.2 603921 SUCLA2, MTDPS5 Succinate-CoA ligase, ADP-forming, beta subunit SUCLA2 8803 ENSG00000136143 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3), Autosomal recessive Sucla2 (MGI:1306775)
chr13 48037566 48052741 13q14.2 13q14.2 615792 NUDT15, MTH2, NUDT15D Nucleoside diphosphate-linked moiety X motif 15 NUDT15 55270 ENSG00000136159 {Thiopurines, poor metabolism of, 2}, 616903 (3), Autosomal dominant Nudt15 (MGI:2443366)
chr13 48075727 48095140 13q14.2 13q14.2 605718 MED4, DRIP36, HSPC126 Mediator of RNA polymerase II transcription, subunit 4, S. cerevisiae, homolog of MED4 29079 ENSG00000136146 Med4 (MGI:1914631)
chr13 48233137 48262095 13q14 13q14.2 603904 ITM2B, BRI, ABRI, FBD, RDGCA Integral membrane protein 2B (BRI gene) ITM2B 9445 ENSG00000136156 mutation identified in 1 RDGCA family Dementia, familial British, 176500 (3), Autosomal dominant; Dementia, familial Danish, 117300 (3), Autosomal dominant; ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079 (3), Autosomal dominant Itm2b (MGI:1309517)
chr13 48303746 48481889 13q14.1-q14.2 13q14.2 614041 RB1 Retinoblastoma-1 RB1 5925 ENSG00000139687 Bladder cancer, somatic, 109800 (3); Osteosarcoma, somatic, 259500 (3); Retinoblastoma, 180200 (3), Autosomal dominant, Somatic mutation; Retinoblastoma, trilateral, 180200 (3), Autosomal dominant, Somatic mutation; Small cell cancer of the lung, somatic, 182280 (3) Rb1 (MGI:97874)
chr13 48400896 48444703 13q14.12-q14.2 13q14.2 609239 LPAR6, P2RY5, P2Y5, LAH3, ARWH1, HYPT8 Lysophosphatidic acid receptor 6 LPAR6 10161 ENSG00000139679 in intron 17 of RB gene Hypotrichosis 8, 278150 (3), Autosomal recessive; Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3), Autosomal recessive Lpar6 (MGI:1914418)
chr13 48488962 48535996 13q14.3 13q14.2 603524 RCBTB2, CHC1L RCC1 domain- and BTB domain-containing protein 2 RCBTB2 1102 ENSG00000136161 Rcbtb2 (MGI:1917200)
chr13 48653710 48711225 13q14 13q14.2 605666 CYSLTR2, CYSLT2 Cysteinyl leukotriene receptor 2 CYSLTR2 57105 ENSG00000152207 Cysltr2 (MGI:1917336)
chr13 48975240 49209778 13q14.2 13q14.2 615794 FNDC3A, KIAA0970, HUGO Fibronectin type III domain-containing protein 3A FNDC3A 22862 ENSG00000102531 Fndc3a (MGI:1196463)
chr13 49220337 49222376 13q14-q21 13q14.2 602885 MLNR, GPR38 Motilin receptor MLNR 2862 ENSG00000102539
chr13 49308649 49444850 13q14.2 13q14.2 612175 CAB39L Calcium-binding protein 39-like protein CAB39L 81617 ENSG00000102547 Cab39l (MGI:1914081)
chr13 49444292 49495002 13q14 13q14.2 607865 SETDB2, CLLD8 SET domain protein, bifurcated, 2 SETDB2 83852 ENSG00000136169 Setdb2 (MGI:2685139)
chr13 49495609 49528991 13q14.1 13q14.2 607796 PHF11, NYREN34 PHD finger protein 11 PHF11 51131 ENSG00000136147 Phf11b,Phf11c,Phf11d,Phf11a (MGI:3645789,MGI:1277133,MGI:1918441,MGI:3648476)
chr13 49531943 49585586 13q14 13q14.2 607867 RCBTB1, CLLD7, GLP, RDEOA RCC1 domain- and BTB domain-containing protein 1 RCBTB1 55213 ENSG00000136144 Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive Rcbtb1 (MGI:1918580)
chr13 49628298 49633871 13q14.3 13q14.2 609351 ARL11, ARLTS1 ADP-ribosylation factor-like 11 ARL11 115761 ENSG00000152213 Arl11 (MGI:2444054)
chr13 49660675 49691486 13q14.2 13q14.2 617335 EBPL Emopamil-binding protein-like EBPL 84650 ENSG00000123179 Ebpl (MGI:1915427)
chr13 49699306 49792920 13q14.3 13q14.2 601892 KPNA3 Karyopherin (importin) alpha-3 KPNA3 3839 ENSG00000102753 Kpna3 (MGI:1100863)
chr13 49912701 49936500 13q14 13q14.2 607866 CLLD6, C13orf1 Chronic lymphocytic leukemia deletion region gene 6 SPRYD7 57213 ENSG00000123178 Spryd7 (MGI:1913924)
chr13 49982548 50125540 13q14 13q14.2 605766 DLEU2, LEU2, BCMSUN Deleted in lymphocytic leukemia 2 DLEU2 8847
chr13 49997006 50018466 13q14.3 13q14.2 605661 TRIM13, RFP2, LEU5 Tripartite motif-containing protein 13 TRIM13 10206 ENSG00000204977 Trim13 (MGI:1913847)
chr13 50015253 50020921 13q14.3 13q14.2 607947 KCNRG, DLTET Potassium channel regulator KCNRG 283518 ENSG00000198553 Kcnrg (MGI:2685591)
chr13 50048972 50049060 13q14.3 13q14.2 609704 MIR16-1, MIRN16-1 Micro RNA 16-1 MIR16-1 406950
chr13 50049118 50049200 13q14.3 13q14.2 609703 MIR15A, MIRN15A Micro RNA 15A MIR15A 406948
chr13 50082168 50528642 13q14 13q14.2-q14.3 605765 DLEU1, LEU1 Deleted in lymphocytic leukemia 1 DLEU1 10301
chr13 50300000 54700000 13q14.3 612894 STQTL20 Stature quantitative trait locus 20 100302685 associated with rs3118914 {Stature QTL 20}, 612894 (2)
chr13 50909677 50970461 13q14.1 13q14.3 610326 RNASEH2B, DLEU8, FLJ11712, AGS2 Ribonuclease H2, subunit B RNASEH2B 79621 ENSG00000136104 Aicardi-Goutieres syndrome 2, 610181 (3), Autosomal recessive Rnaseh2b (MGI:1914403)
chr13 50994510 51066156 13q14.3 13q14.3 603695 GUCY1B2 Guanylate cyclase 1, soluble, beta-2 GUCY1B2 2974
chr13 51353170 51453332 13q14.3 13q14.3 604331 INTS6, DDX26, DICE1 Integrator complex subunit 6 INTS6 26512 ENSG00000102786 Ints6 (MGI:1202397)
chr13 51584193 51766798 13q14.3 13q14.3 610418 WDFY2 WD repeat- and FYVE domain-containing protein 2 WDFY2 115825 ENSG00000139668 Wdfy2 (MGI:2442811)
chr13 51767992 51804161 13q14.3 13q14.3 616163 DHRS12, SDR40C1 Short-chain dehydrogenase reductase family, member 12 DHRS12 79758 ENSG00000102796
chr13 51907819 51910752 13q14-q21 13q14.3 608857 CTAGE3 Cutaneous T-cell lymphoma-associated antigen 3 CTAGE3P 220112
chr13 51932668 52012129 13q14.3-q21.1 13q14.3 606882 ATP7B, WND ATPase, Cu++ transporting, beta polypeptide ATP7B 540 ENSG00000123191 Wilson disease, 277900 (3), Autosomal recessive Atp7b (MGI:103297)
chr13 52012386 52029647 13q14.3 13q14.3 613666 ALG11, KIAA1266, CDG1P Alg11, S. cerevisiae, homolog of ALG11 440138 ENSG00000253710 Congenital disorder of glycosylation, type Ip, 613661 (3), Autosomal recessive Alg11 (MGI:2142632)
chr13 52064761 52129091 13q14.3 13q14.3 616731 NEK5 Never in mitosis gene A-related kinase 5 NEK5 341676 ENSG00000197168 Nek5 (MGI:2142824)
chr13 52132642 52159860 13q14.2 13q14.3 604044 NEK3 Never in mitosis gene A-related kinase 3 NEK3 4752 ENSG00000136098 Nek3 (MGI:1344371)
chr13 52377166 52406493 13q14.3 13q14.3 616821 THSD1, TMTSP Thrombospondin type 1 domain-containing protein 1 THSD1 55901 ENSG00000136114 Thsd1 (MGI:1929096)
chr13 52412601 52450677 13q14.3 13q14.3 610903 VPS36, EAP45 Vacuolar protein sorting 36, S. cerevisiae, homolog of VPS36 51028 ENSG00000136100 Vps36 (MGI:1917410)
chr13 52455359 52476630 13q14 13q14.3 611569 CKAP2, TMAP, LB1 Cytoskeleton-associated protein 2 CKAP2 26586 ENSG00000136108 Ckap2 (MGI:1931797)
chr13 52652690 52700755 13q14.3 13q14.3 604098 SUGT1, SGT1 Suppressor of G2 allele of Skp1, S. Cerevisiae, homolog of SUGT1 10910 ENSG00000165416 Sugt1 (MGI:1915205)
chr13 52703263 52739811 13q14-q21 13q14.3 605147 LECT1, CHM1 Leukocyte cell derived chemotaxin 1 (chondromodulin) CNMD 11061 ENSG00000136110 Cnmd (MGI:1341171)
chr13 52843973 52848639 13q14.3 13q14.3 603580 PCDH8 Protocadherin 8 PCDH8 5100 ENSG00000136099 Pcdh8 (MGI:1306800)
chr13 53028740 53052060 13q14.3 13q14.3 614061 OLFM4, GC1, GW112 Olfactomedin 4 OLFM4 10562 ENSG00000102837 Olfm4 (MGI:2685142)
chr13 54700000 72800000 13q21 613289 ATXN8 Ataxin 8 ATXN8 724066 CAG repeat results in polyglutamine expansion protein Spinocerebellar ataxia 8, 608768 (3), Autosomal dominant
chr13 54700000 101100000 13q21-q32 602085 PAPA2 Postaxial polydactyly, type A2 8103 Postaxial polydactyly, type A2, 602085 (2), Autosomal dominant
chr13 54700000 72800000 13q21 607134 SLI3 Specific language impairment QTL, 3 780906 max with D13S1317 Specific language impairment QTL, 3, 607134 (2)
chr13 57630103 57728930 13q21.1 13q21.1 611760 PCDH17, PCDH68 Protocadherin 17 PCDH17 27253 ENSG00000118946 Pcdh17 (MGI:2684924)
chr13 59665582 60163984 13q21.2 13q21.2 614567 DIAPH3, DIA2, DRF3, AUNA1, NSDAN Diaphanous, Drosophila, homolog of, 3 DIAPH3 81624 ENSG00000139734 Auditory neuropathy, autosomal dominant, 1, 609129 (3), Autosomal dominant Diaph3 (MGI:1927222)
chr13 60396456 60573878 13q21.2 13q21.2 614392 TDRD3 Tudor domain-containing protein 3 TDRD3 81550 ENSG00000083544 Tdrd3 (MGI:2444023)
chr13 61409684 61415521 13q21.2 13q21.2 614449 PCDH20, PCDH13 Protocadherin 20 PCDH20 64881 ENSG00000280165 Pcdh20 (MGI:2443376)
chr13 66302833 67230335 13q21.1 13q21.32 603581 PCDH9 Protocadherin 9 PCDH9 5101 ENSG00000184226 Pcdh9 (MGI:1306801)
chr13 69700592 70108492 13q21 13q21.33 605332 KLHL1 Kelch-like 1 KLHL1 57626 ENSG00000150361 Klhl1 (MGI:2136335)
chr13 70107212 70139752 13q21 13q21.33 603680 ATXN8OS, SCA8, KLHL1AS Ataxin 8 opposite strand ATXN8OS 6315 due to CTG repeat in untranslated DNA Spinocerebellar ataxia 8, 608768 (3), Autosomal dominant
chr13 71437965 71868067 13q22 13q21.33 603803 DACH Dachshund, Drosophila, homolog of DACH1 1602 ENSG00000276644 Dach1 (MGI:1277991)
chr13 72708356 72727799 13q21.33-q22.1 13q21.33 613448 C13orf37, MOZART1 Mitotic spindle-organizing protein associated with a ring of gamma-tubulin MZT1 440145 ENSG00000204899 Mzt1 (MGI:1924039)
chr13 72727738 72756197 13q22.1 13q21.33 610510 BORA, C13orf34 Aurora borealis BORA 79866 ENSG00000136122 Bora (MGI:1924994)
chr13 72755401 72782127 13q21-q22 13q21.33 607533 DIS3, KIAA1008 Dis3, S. pombe, homolog of DIS3 22894 ENSG00000083520 Dis3 (MGI:1919912)
chr13 72782022 73016453 13q21-q22 13q21.3-q22.1 607532 PIBF1, JBTS33 Progesterone-induced blocking factor 1 PIBF1 10464 ENSG00000083535 Joubert syndrome 33, 617767 (3), Autosomal recessive Pibf1 (MGI:1261910)
chr13 72800000 78500000 13q22 142700 DDH1 Developmental dysplasia of the hip 1 780896 Developmental dysplasia of the hip 1, 142700 (2), Multifactorial
chr13 72800000 101100000 13q22-q32 167870 PAND1 Panic disorder syndrome 1 387572 Panic disorder syndrome 1, 167870 (2), ?Autosomal dominant
chr13 73686011 74168294 13q22 13q22.1 607531 KLF12, AP2REP Kruppel-like factor 12 KLF12 11278 ENSG00000118922 Klf12 (MGI:1333796)
chr13 75284663 75483143 13q22.2 13q22.2 612465 TBC1D4, AS160, KIAA0603, NIDDM5 TPC1 domain family, member 4 TBC1D4 9882 ENSG00000136111 {Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3) Tbc1d4 (MGI:2429660)
chr13 75525213 75549438 13q22 13q22.2 612377 COMMD6 COMM domain-containing protein 6 COMMD6 170622 ENSG00000188243
chr13 75549479 75606019 13q22 13q22.2 603090 UCHL3 Ubiquitin carboxyl-terminal esterase L3 UCHL3 7347 ENSG00000118939 Uchl3 (MGI:1355274)
chr13 75620433 75859869 13q21-q22 13q22.2 604362 LMO7, FBXO20, FBX20, KIAA0858 LIM domain only 7 LMO7 4008 ENSG00000136153 Lmo7 (MGI:1353586)
chr13 76880168 76886404 13q21 13q22.3 610521 KCTD12, PFET1, KIAA1778, C13orf2 Potassium channel tetramerization domain-containing protein 12 KCTD12 115207 ENSG00000178695 Kctd12 (MGI:2145823)
chr13 76928450 76929089 13q22 13q22.3 602543 TNFRSF11B, OPG, OCIF Tumor necrosis factor receptor superfamily, member 11B BTF3P11 690
chr13 76948558 76958641 13q22.3 13q22.3 615275 ACOD1, IRG1 Aconitate decarboxylase 1 ACOD1 730249 ENSG00000102794 Acod1 (MGI:103206)
chr13 76991923 77002516 13q22.3 13q22.3 608102 CLN5 CLN5 gene CLN5 1203 ENSG00000102805 Ceroid lipofuscinosis, neuronal, 5, 256731 (3), Autosomal recessive Cln5 (MGI:2442253)
chr13 76992596 77027195 13q22 13q22.3 605653 FBXL3A, FBL3A, FBL3 F-box and leucine-rich repeat protein 3A FBXL3 26224 ENSG00000005812 Fbxl3 (MGI:1354702)
chr13 77044656 77327097 13q22 13q22.3 610392 MYCBP2, PAM, KIAA0916 Myc-binding protein 2 MYCBP2 23077 ENSG00000005810 Mycbp2 (MGI:2179432)
chr13 77535673 77645262 13q22 13q22.3 604112 SCEL Sciellin SCEL 8796 ENSG00000136155 Scel (MGI:1891228)
chr13 77697673 77764241 13q22.3 13q22.3 610491 SLAIN1 SLAIN motif family, member 1 SLAIN1 122060 ENSG00000139737 Slain1 (MGI:2145578)
chr13 77895480 77975722 13q22 13q22.3 131244 EDNRB, HSCR2, ABCDS, WS4A Endothelin receptor type B EDNRB 1910 ENSG00000136160 ?piebald lethal in mouse ABCD syndrome, 600501 (3), Autosomal recessive; {Hirschsprung disease, susceptibility to, 2}, 600155 (3), Autosomal dominant; Waardenburg syndrome, type 4A, 277580 (3), Autosomal recessive, Autosomal dominant Ednrb (MGI:102720)
chr13 78500000 109600000 13q31-q33 193003 NYS4 Nystagmus 4, congenital, autosomal dominant NYS4 317685 Nystagmus 4, congenital, autosomal dominant, 193003 (2), Autosomal dominant
chr13 78599091 78603559 13q21.1-q22 13q31.1 601632 POU4F1, BRN3A POU domain, class 4, transcription factor 1 POU4F1 5457 ENSG00000152192 Pou4f1 (MGI:102525)
chr13 78614285 78659178 13q31.1 13q31.1 615906 RNF219, C13orf7 Ring finger protein 219 RNF219 79596 ENSG00000152193 Rnf219 (MGI:1919736)
chr13 79480721 79556076 13q22.2 13q31.1 610041 NDFIP2, N4WBP5A, KIAA1165 NEDD4 family-interacting protein 2 NDFIP2 54602 ENSG00000102471 Ndfip2 (MGI:1923523)
chr13 80011076 80026662 13q31.1 13q31.1 615230 LNCR13Q1 Long noncoding RNA on 13q (TCONS_00021856) LINC01080 101515984
chr13 80335975 80341114 13q31.1 13q31.1 602466 SPRY2, IGAN3 Sprouty, Drosophila, homolog of, 2 SPRY2 10253 ENSG00000136158 mutation identified in 1 IGAN3 family {?IgA nephropathy, susceptibility to, 3}, 616818 (3), Autosomal dominant Spry2 (MGI:1345138)
chr13 83877204 83882392 13q31 13q31.1 609678 SLITRK1, KIAA1910, TTM SLIT- and NTRK-like family, member 1 SLITRK1 114798 ENSG00000178235 mutation identified in 1 TTM patient Tourette syndrome, 137580 (3), Autosomal dominant; ?Trichotillomania, 613229 (3), Autosomal dominant, Multifactorial Slitrk1 (MGI:2679446)
chr13 85792786 85799347 13q31 13q31.1 609681 SLITRK6, DFNMYP SLIT- and NTRK-like family, member 6 SLITRK6 84189 ENSG00000184564 Deafness and myopia, 221200 (3), Autosomal recessive Slitrk6 (MGI:2443198)
chr13 87671231 87679618 13q31 13q31.2 609680 SLITRK5, KIAA0918 SLIT- and NTRK-like family, member 5 SLITRK5 26050 ENSG00000165300 Slitrk5 (MGI:2679448)
chr13 89400000 97500000 13q31.3-q32.1 610840 MMVP3 Mitral valve prolapse, myxomatous 3 100034705 max lod at D13S132 Mitral valve prolapse, myxomatous 3, 610840 (2), Autosomal dominant
chr13 89400000 94400000 13q31.3 609572 PPR2 Photoparoxysmal response 2 780910 max lod at D13S1230 Photoparoxysmal response 2, 609572 (2)
chr13 91347819 91354574 13q31.3 13q31.3 609415 MIR17HG, MIRH1, MIHG1, MIRHG1, C13orf25, FGLDS2 Micro RNA 17 host gene MIR17HG 407975 Feingold syndrome 2, 614326 (3), Autosomal dominant
chr13 91350604 91350687 13q31.3 13q31.3 609416 MIR17, MIR91, MIRN17 Micro RNA 17 MIR17 406952 within C13orf25; sequence encodes 2 micro RNAs
chr13 91350750 91350820 13q31.3 13q31.3 609417 MIR18A, MIRN18A Micro RNA 18A MIR18A 406953 within C13orf25
chr13 91350890 91350971 13q31.3 13q31.3 609418 MIR19A, MIRN19A Micro RNA 19A MIR19A 406979 within C13orf25
chr13 91351064 91351134 13q31.3 13q31.3 609420 MIR20A, MIRN20A Micro RNA 20A MIR20A 406982 within C13orf25
chr13 91351191 91351277 13q31.3 13q31.3 609419 MIR19B1, MIRN19B1 Micro RNA 19B1 MIR19B1 406980 within C13orf25
chr13 91351313 91351390 13q31.3 13q31.3 609422 MIR92A1, MIR92-1, MIRN92-1 Micro RNA 92A1 MIR92A1 407048 within C13orf25
chr13 91398618 92867236 13q32 13q31.3 602446 GPC5 Glypican 5 GPC5 2262 ENSG00000179399 Gpc5 (MGI:1194894)
chr13 93226807 94408019 13q32 13q31.3-q32.1 604404 GPC6, OMIMD1 Glypican 6 GPC6 10082 ENSG00000183098 Omodysplasia 1, 258315 (3), Autosomal recessive Gpc6 (MGI:1346322)
chr13 94400000 101100000 13q32 614629 KTCN7 Keratoconus 7 100887822 max lod at D13S159 Keratoconus 7, 614629 (2), Autosomal dominant
chr13 94400000 101100000 13q32 156600 MCOR, C13DELq32, DEL13q32 Microcoria, congenital (chromosome 13q32 deletion syndrome) 35-80kb deletion encompassing TGDS and GPR180 Microcoria, congenital, 156600 (4), Autosomal dominant
chr13 94400000 101100000 13q32 603176 SCZD7 Schizophrenia susceptibility locus, chromosome 13q-related SCZD7 8401 {Schizophrenia}, 181500 (2), Autosomal dominant
chr13 94400000 101100000 13q32 609903 SLEB5 Systemic lupus erythematosus, susceptibility to, 5 100188798 max lod at D13S892 {Systemic lupus erythematosus, susceptibility to, 5}, 609903 (2)
chr13 94400000 109600000 13q32-q33 606258 STQTL4 Stature quantitative trait locus 4 282550 max lod at D13S779 and D13S797 {Stature QTL 4}, 606258 (2)
chr13 94437303 94549412 13q31-q32 13q32.1 191275 DCT, TYRP2 Dopachrome tautomerase (dopachrome delta-isomerase; tyrosinase-related protein 2) DCT 1638 ENSG00000080166 Dct (MGI:102563)
chr13 94574053 94596274 13q32.1 13q32.1 616146 TGDS, SDR2E1, CATMANS TDP-glucose 4,6-dehydratase TGDS 23483 ENSG00000088451 Catel-Manzke syndrome, 616145 (3), Autosomal recessive Tgds (MGI:1923605)
chr13 94601849 94634644 13q31 13q32.1 607787 GPR180, ITR G protein-coupled receptor 180 GPR180 160897 ENSG00000152749 Gpr180 (MGI:1930949)
chr13 94709621 94712542 13q31-q32 13q32.1 604974 SOX21 SRY-box 21 SOX21 11166 ENSG00000125285 Sox21 (MGI:2654070)
chr13 95019828 95301445 13q32 13q32.1 605250 ABCC4, MRP4, MOATB ATP-binding cassette, subfamily C, member 4 ABCC4 10257 ENSG00000125257 Abcc4 (MGI:2443111)
chr13 95433587 95579755 13q32.1 13q32.1 617579 CLDN10, OSPL, CPETRL3, HELIX Claudin 10 CLDN10 9071 ENSG00000134873 HELIX syndrome, 617671 (3), Autosomal recessive Cldn10 (MGI:1913101)
chr13 95578201 95644705 13q31 13q32.1 608671 DZIP1, KIAA0996 DAZ-interacting zinc finger protein 1 DZIP1 22873 ENSG00000134874 Dzip1 (MGI:1914311)
chr13 95677138 95794988 13q32 13q32.1 601184 DNAJC3, PRKRI, P58, ACPHD DnaJ, E. coli, homolog of, subfamily C, member 3 (protein kinase inhibitor p58) DNAJC3 5611 ENSG00000102580 mutation identified in 1 ACPHD family ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3), Autosomal recessive Dnajc3 (MGI:107373)
chr13 95801579 96053481 13q32.1 13q32.1 605898 UGGT2, HUGT2 UDP-glucose glycoprotein glucosyltransferase 2 UGGT2 55757 ENSG00000102595 Uggt2 (MGI:1913685)
chr13 96090633 96839561 13q32-q33 13q32.1 609401 HS6ST3 Heparan sulfate 6-O-sulfotransferase 3 HS6ST3 266722 ENSG00000185352 Hs6st3 (MGI:1354960)
chr13 96985718 96994729 13q32.1 13q32.1 606922 GPR80 G protein-coupled receptor 80 OXGR1 27199 ENSG00000165621 Oxgr1 (MGI:2685145)
chr13 97434220 97467997 13q34 13q32.1 179540 RAP2A RAP2, member of RAS oncogene family (K-rev) RAP2A 5911 ENSG00000125249 Rap2a (MGI:97855)
chr13 97953640 98024295 13q32.2 13q32.2 602008 IPO5, RANBP5, KPNB3 Importin 5 IPO5 3843 ENSG00000065150 Ipo5 (MGI:1917822)
chr13 98142561 98449772 13q32.2 13q32.2 602654 FARP1, CDEP FERM, ARHGEF, and pleckstrin domain-containing protein 1 FARP1 10160 ENSG00000152767 Farp1 (MGI:2446173)
chr13 98450198 98577150 13q31.2-q32.3 13q32.2 604984 STK24, MST3, MST3B Serine/threonine protein kinase 24 STK24 8428 ENSG00000102572 Stk24 (MGI:2385007)
chr13 98683800 98752674 13q33-q34 13q32.2-q32.3 600544 SLC15A1, HPECT1 Solute carrier family 15 (oligopeptide transporter), member 1 SLC15A1 6564 ENSG00000088386 Slc15a1 (MGI:1861376)
chr13 98793486 99086405 13q32.3 13q32.3 607325 ZIZ1, KIAA1058 Zizimin 1 DOCK9 23348 ENSG00000088387 Dock9 (MGI:106321)
chr13 99254712 99262497 13q32 13q32.3 602042 GPR18 G protein-coupled receptor-18 GPR18 2841 ENSG00000125245 Gpr18 (MGI:107859)
chr13 99294272 99307494 13q32.3 13q32.3 605741 GPR183, EBI2 G protein-coupled receptor 183 GPR183 1880 ENSG00000169508 Gpr183 (MGI:2442034)
chr13 99501373 99564047 13q32.3 13q32.3 604678 TM9SF2 Transmembrane 9 superfamily, member 2 TM9SF2 9375 ENSG00000125304 Tm9sf2 (MGI:1915309)
chr13 99606663 99909458 13q32 13q32.3 609686 CLYBL, CLB Citrate lyase beta-like CLYBL 171425 ENSG00000125246 Clybl (MGI:1916884)
chr13 99962963 99971908 13q32.3 13q32.3 617896 ZIC5, OPR Zic family, member 5 ZIC5 85416 ENSG00000139800 Zic5 (MGI:1929518)
chr13 99981755 99986772 13q32 13q32.3 603073 ZIC2, HPE5 ZIC family, member 2 ZIC2 7546 ENSG00000043355 Holoprosencephaly 5, 609637 (3), Autosomal dominant Zic2 (MGI:106679)
chr13 100089014 100530436 13q32 13q32.3 232000 PCCA Propionyl Coenzyme A carboxylase, alpha polypeptide PCCA 5095 ENSG00000175198 Propionicacidemia, 606054 (3), Autosomal recessive Pcca (MGI:97499)
chr13 100530163 100588791 13q32.3 13q32.3 613378 A2LD1, GGACT AIG1-like domain-containing protein 1 GGACT 87769 ENSG00000134864 Ggact (MGI:2385008)
chr13 101053773 101417205 13q33.11 13q32.3-q33.1 611549 NALCN, IHPRF1, CLIFAHDD Sodium leak channel, nonselective NALCN 259232 ENSG00000102452 Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3), Autosomal dominant; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3), Autosomal recessive Nalcn (MGI:2444306)
chr13 101100000 114364328 13q33.1-q34 610361 OFC9 Orofacial cleft 9 100462724 associated with rs1830756 Orofacial cleft 9, 610361 (2)
chr13 101452592 101720856 13q33 13q33.1 604234 ITGBL1, TIED Integrin, beta-like 1 ITGBL1 9358 ENSG00000198542 Itgbl1 (MGI:2443439)
chr13 101720854 102402427 13q34 13q33.1 601515 FGF14, FHF4, SCA27 Fibroblast growth factor-14 FGF14 2259 ENSG00000102466 Spinocerebellar ataxia 27, 609307 (3), Autosomal dominant Fgf14 (MGI:109189)
chr13 102596935 102679957 13q32-q33 13q33.1 190470 TPP2 Tripeptidyl peptidase II TPP2 7174 ENSG00000134900 Tpp2 (MGI:102724)
chr13 102678781 102704310 13q33.1 13q33.1 615259 METTL21C, C13orf39 Methyltransferase-like 21C METTL21C 196541 ENSG00000139780 Mettl21c (MGI:3611450)
chr13 102784280 102799053 13q33 13q33.1 611613 KDELC1, EP58 KDEL motif-containing 1 KDELC1 79070 ENSG00000134901 Kdelc1 (MGI:1919300)
chr13 102845840 102876000 13q33 13q33.1 133530 ERCC5, XPG, COFS3 Excision-repair, complementing defective, in Chinese hamster, number 5 ERCC5 2073 ENSG00000134899 Cerebrooculofacioskeletal syndrome 3, 616570 (3), Autosomal recessive; Xeroderma pigmentosum, group G, 278780 (3), Autosomal recessive; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3), Autosomal recessive Ercc5 (MGI:103582)
chr13 103043997 103066845 13q33 13q33.1 601295 SLC10A2, NTCP2, PBAM Solute carrier family 10 (sodium/bile acid cotransporter family), member 2 SLC10A2 6555 ENSG00000125255 Bile acid malabsorption, primary, 613291 (3), Autosomal recessive Slc10a2 (MGI:1201406)
chr13 104200000 106400000 13q33.2 614318 VUR5 Vesicoureteral reflux 5 100820760 nearest marker rs4476030 Vesicoureteral reflux 5, 614318 (2)
chr13 105459054 105505680 13q34 13q33.2 607415 DAOAAS, G30 DAOA antisense RAN DAOA-AS1 282706
chr13 105465866 105491033 13q34 13q33.2 607408 DAOA, G72 D-amino acid oxidase activator DAOA 267012 ENSG00000182346 {Schizophrenia}, 181500 (2), Autosomal dominant
chr13 106489730 106535039 13q33 13q33.3 600527 EFNB2, EPLG5, LERK5, HTKL eph-related receptor tyrosine kinase ligand 5 (ephrin-B2) EFNB2 1948 ENSG00000125266 Efnb2 (MGI:105097)
chr13 106543313 106568165 13q33.3 13q33.3 614046 ARGLU1 Arginine- and glutamate-rich protein 1 ARGLU1 55082 ENSG00000134884 Arglu1 (MGI:2442985)
chr13 108207441 108218367 13q22-q34 13q33.3 601837 LIG4, LIG4S Ligase IV, DNA, ATP-dependent LIG4 3981 ENSG00000174405 LIG4 syndrome, 606593 (3), Autosomal recessive; {Multiple myeloma, resistance to}, 254500 (3), Somatic mutation Lig4 (MGI:1335098)
chr13 108268239 108308483 13q32-q34 13q33.3 603969 TNFSF13B, BLYS, BAFF Tumor necrosis factor ligand superfamily, member 13B TNFSF13B 10673 ENSG00000102524 Tnfsf13b (MGI:1344376)
chr13 108495728 109208006 13q33.3 13q33.3 615479 MYO16, MYAP3, KIAA0865 Myosin XVI MYO16 23026 ENSG00000041515 Myo16 (MGI:2685951)
chr13 109600000 114364328 13q34 614211 DFNA33 Deafness, autosomal dominant 33 DFNA33 29779 maximum lod at D13S285 Deafness, autosomal dominant 33, 614211 (2), Autosomal dominant
chr13 109753836 109786566 13q34 13q34 600797 IRS2 Insulin receptor substrate 2 IRS2 8660 ENSG00000185950 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant Irs2 (MGI:109334)
chr13 110148957 110307156 13q34 13q34 120130 COL4A1, POREN1, HANAC, ICH, BSVD, RATOR Collagen IV, alpha-1 polypeptide COL4A1 1282 ENSG00000187498 mutation identified in 1 RATOR family Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3), Autosomal dominant; Brain small vessel disease with or without ocular anomalies, 607595 (3), Autosomal dominant; {Hemorrhage, intracerebral, susceptibility to}, 614519 (3); Porencephaly 1, 175780 (3), Autosomal dominant; ?Retinal arteries, tortuosity of, 180000 (3), Autosomal dominant; Schizencephaly, 269160 (3) Col4a1 (MGI:88454)
chr13 110307266 110513208 13q34 13q34 120090 COL4A2, POREN2, ICH Collagen IV, alpha-2 polypeptide COL4A2 1284 ENSG00000134871 {Hemorrhage, intracerebral, susceptibility to}, 614519 (3); Porencephaly 2, 614483 (3), Autosomal dominant Col4a2 (MGI:88455)
chr13 110615459 110639995 13q34 13q34 615910 CARKD Carbohydrate kinase domain-containing protein NAXD 55739 ENSG00000213995 Naxd (MGI:1913353)
chr13 110641409 110713600 13q34 13q34 612800 CARS2, COXPD27 Cysteinyl-tRNA synthetase 2 CARS2 79587 ENSG00000134905 Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive Cars2 (MGI:1919191)
chr13 110712622 110721073 13q34 13q34 601566 ING1 Inhibitor of growth 1 ING1 3621 ENSG00000153487 Squamous cell carcinoma, head and neck, somatic, 275355 (3) Ing1 (MGI:1349481)
chr13 111114618 111305733 13q34 13q34 605477 ARHGEF7, PIXB, COOL1 Rho guanine nucleotide exchange factor 7 (PAK-interacting exchange factor, beta) ARHGEF7 8874 ENSG00000102606 Arhgef7 (MGI:1860493)
chr13 112067598 112071705 13q34 13q34 602148 SOX1 SRY (sex determining region Y)-box 1 SOX1 6656 ENSG00000182968 Sox1 (MGI:98357)
chr13 112485004 112606468 13q34 13q34 617818 TUBGCP3, GCP3, GRIP104, SPC98, ALP6 Tubulin-gamma complex-associated protein 3 TUBGCP3 10426 ENSG00000126216 Tubgcp3 (MGI:2183752)
chr13 112690033 112887167 13q34 13q34 605868 ATP11A, ATPIS, ATPIH ATPase, class VI, type 11A ATP11A 23250 ENSG00000068650 Atp11a (MGI:1354735)
chr13 112894377 113099738 13q34 13q34 609499 MCF2L, OST, KIAA0362 MCF2-like protein MCF2L 23263 ENSG00000126217 Mcf2l (MGI:103263)
chr13 113105772 113120680 13q34 13q34 613878 F7 Coagulation factor VII F7 2155 ENSG00000057593 Factor VII deficiency, 227500 (3), Autosomal recessive; {Myocardial infarction, decreased susceptibility to}, 608446 (3) F7 (MGI:109325)
chr13 113122798 113149528 13q34 13q34 613872 F10 Coagulation factor X F10 2159 ENSG00000126218 Factor X deficiency, 227600 (3), Autosomal recessive F10 (MGI:103107)
chr13 113155863 113172385 13q34 13q34 176895 PROZ, PZ Protein Z PROZ 8858 ENSG00000126231 [Protein Z deficiency], 614024 (3) Proz (MGI:1860488)
chr13 113165001 113209466 13q34 13q34 613713 PCID2 PCI domain-containing protein 2 PCID2 55795 ENSG00000126226 Pcid2 (MGI:2443003)
chr13 113208192 113267107 13q34 13q34 603137 CUL4A Cullin 4A CUL4A 8451 ENSG00000139842 Cul4a (MGI:1914487)
chr13 113297153 113323425 13q34 13q34 153330 LAMP1 Lysosome-associated membrane protein-1 LAMP1 3916 ENSG00000185896 Lamp1 (MGI:96745)
chr13 113421939 113453523 13q31 13q34 610620 ADPRHL1, ARH2 ADP-ribosylhydrolase-like 1 ADPRHL1 113622 ENSG00000153531 Adprhl1 (MGI:2442168)
chr13 113490737 113550228 13q34 13q34 617134 TMCO3, C13orf11 Transmembrane and coiled-coil domains protein 3 TMCO3 55002 ENSG00000150403 Tmco3 (MGI:2444946)
chr13 113584687 113641472 13q34 13q34 189902 TFDP1, DP1, DRTF1 Transcription factor Dp-1 TFDP1 7027 ENSG00000198176 pseudogene on 1q32.3 Tfdp1 (MGI:101934)
chr13 113645770 113735663 13q34 13q34 180381 GRK1, RHOK, RK G protein-dependent receptor kinase 1 (rhodopsin kinase) GRK1 6011 ENSG00000185974 Oguchi disease-2, 613411 (3) Grk1 (MGI:1345146)
chr13 113648803 113658197 13q34 13q34 137217 ATP4B ATPase, H+, K+ transporting, beta ATP4B 496 ENSG00000186009 Atp4b (MGI:88114)
chr13 113820548 113864102 13q34 13q34 600441 GAS6, AXLLG, AXSF Growth arrest-specific 6 GAS6 2621 ENSG00000183087 Gas6 (MGI:95660)
chr13 113977782 114132622 13q34 13q34 605182 RASA3 Ras p21 protein activator 3 RASA3 22821 ENSG00000185989 Rasa3 (MGI:1197013)
chr13 114234844 114272722 13q34 13q34 603461 CDC16, APC6 Cell division cycle 16, S. cerevisiae, homolog of CDC16 8881 ENSG00000130177 Cdc16 (MGI:1917207)
chr13 114281583 114305816 13q34 13q34 605530 UPF3A, RENT3A UPF3 regulator of nonsense transcripts, yeast, homolog of, A UPF3A 65110 ENSG00000169062 Upf3a (MGI:1914281)
chr13 114314334 114327327 13q34 13q34 616327 CHAMP1, ZNF828, C13orf8, KIAA1802, MRD40 Chromosome alignment-maintaining phosphoprotein 1 CHAMP1 283489 ENSG00000198824 Mental retardation, autosomal dominant 40, 616579 (3), Autosomal dominant Champ1 (MGI:1196398)
chr14 3600000 8000000 14p12 180451 RNR2 Ribosomal RNA-2 RNR2 6053
chr14 8000000 37400000 14p11.2-q13 606771 ADIPQTL3, CAQ14 Adiponectin, serum level of, quantitative trait locus 3 171512 between D14S608 and D14S599 {Adiponectin, serum level of, QTL3}, 606771 (2)
chr14 17200000 57600000 14q11-q22 613457 DEL14q11q22, C14DELq11q22 Chromosome 14q11-q22 deletion syndrome contiguous gene syndrome Chromosome 14q11-q22 deletion syndrome, 613457 (4), Isolated cases
chr14 17200000 32900000 14q11-q12 606675 IBD4 Inflammatory bowel disease 4 IBD4 50608 {Inflammatory bowel disease 4}, 606675 (2)
chr14 17200000 24100000 14q11 617833 ZFHX2AS1 ZFHX2 antisense RNA 1 ZFHX2-AS1 109729160
chr14 18200000 32900000 14q11.2-q12 609965 DFNA53 Deafness, autosomal dominant 53 DFNA53 353347 max lod at D14S1280 Deafness, autosomal dominant 53, 609965 (2), Autosomal dominant
chr14 18200000 37400000 14q11.2-q13 144110 HHPP Hyperhidrosis palmaris et plantaris 100861529 between D14S283 and D14S264 Hyperhidrosis palmaris et plantaris, 144110 (2), Autosomal dominant
chr14 18200000 32900000 14q11.2-q12 611095 MRT9, MRT26 Mental retardation, autosomal recessive, 9/26 MRT9 100101424 between rs1998463 and rs243286 Mental retardation, autosomal recessive, 9/26, 611095 (2), Autosomal recessive
chr14 18200000 24100000 14q11.2 612851 NRCLP5 Narcolepsy 5 100302514 associated with rs1154155, rs12587781, rs1263646 {Narcolepsy 5}, 612851 (2)
chr14 18200000 32900000 14q11.2-q12 610420 PAURT1 Preauricular tag, isolated, autosomal dominant, 1 101669760 between D14S990 and D14S264 Preauricular tag, isolated, autosomal dominant, 1, 610420 (2), Autosomal dominant
chr14 18200000 24100000 14q11.2 605463 RSCIS Radiation sensitivity/chromosome instability syndrome, autosomal dominant 64239 Radiation sensitivity/chromosome instability syndrome, autosomal dominant (1)
chr14 18200000 32900000 14q11.2-q12 610234 SPD3 Synpolydactyly 3 780922 max lod at D14S264 Synpolydactyly 3, 610234 (2)
chr14 18200000 24100000 14q11.2 615443 TRAJ@ T-cell receptor alpha chain joining gene cluster
chr14 18200000 24100000 14q11.2 615442 TRAV@ T-cell receptor alpha chain variable gene cluster
chr14 18200000 24100000 14q11.2 615460 TRDD@ T-cell receptor delta chain diversity gene cluster
chr14 18200000 24100000 14q11.2 615461 TRDJ@ T-cell receptor delta chain joining gene cluster
chr14 18200000 24100000 14q11.2 615459 TRDV@ T-cell receptor delta chain variable gene cluster
chr14 20311367 20333311 14q11.1 14q11.2 608249 C14orf18, HEI10 Human enhancer of invasion 10 CCNB1IP1 57820 ENSG00000100814 Ccnb1ip1 (MGI:2685134)
chr14 20343040 20357903 14q11.2 14q11.2 607725 PARP2, ADPRTL2, ADPRT2 Poly(ADP-ribose) polymerase 2 PARP2 10038 ENSG00000129484 Parp2 (MGI:1341112)
chr14 20343070 20343410 14q11.2 14q11.2 608513 RPPH1, H1RNA Ribonuclease P, RNA component H1 RPPH1 85495
chr14 20365666 20413539 14q11.2 14q11.2 601686 TEP1, TP1 Telomerase-associated protein-1 TEP1 7011 ENSG00000129566 Tep1 (MGI:109573)
chr14 20447047 20455107 14q11.2-q12 14q11.2 610107 OSGEP, FLJ20411, GAMOS3 O-sialoglycoprotein endopeptidase OSGEP 55644 ENSG00000092094 Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive Osgep (MGI:1913496)
chr14 20455130 20457771 14q12 14q11.2 107748 APEX, APE APEX nuclease (multifunctional DNA repair enzyme) APEX1 328 ENSG00000100823 Apex1 (MGI:88042)
chr14 20469378 20478005 14q13.1 14q11.2 164050 PNP, NP Purine nucleoside phosphorylase PNP 4860 ENSG00000198805 centromeric to TCRA Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3), Autosomal recessive Pnp,Pnp2 (MGI:3712328,MGI:97365)
chr14 20556092 20560930 14q11.2 14q11.2 614014 RNAE9 Ribonuclease A family, 9 RNASE9 390443 ENSG00000188655 Rnase9 (MGI:3057273)
chr14 20609335 20609406 14q11 14q11.2 189930 TRNAP1, TRP1 tRNA proline-1 TRP-AGG2-5 7217
chr14 20610131 20610212 14q11-q12 14q11.2 189932 TRL-AAG2-1, TRNAL1, TRL1 tRNA leucine (AAG) 2-1 TRL-AAG2-3 7207
chr14 20613400 20613471 14q11-q12 14q11.2 189931 TRNAP2, TRP2 tRNA proline-2 TRP-AGG2-6 7218
chr14 20613789 20613861 14q11-q12 14q11.2 189933 TRNAT2, TRT2 tRNA threonine-2 TRT-TGT3-1 7237
chr14 20684176 20694185 14q11.2 14q11.2 105850 ANG, RNASE5, ALS9 Angiogenin ANG 283 ENSG00000214274 proximal to TCRA/TCRD Amyotrophic lateral sclerosis 9, 611895 (3) Ang (MGI:88022)
chr14 20684212 20700601 14q11.2 14q11.2 601030 RNASE4, RNS4 Ribonuclease, RNase A family, 4 RNASE4 6038 ENSG00000258818 Rnase4 (MGI:1926217)
chr14 20722390 20748379 14q11.2 14q11.2 611580 EDDM3A, FAM12A, HE3A Epididymal protein 3A EDDM3A 10876 ENSG00000181562
chr14 20768426 20770947 14q11.2 14q11.2 611582 FAM12B, HE3B Family with sequence similarity 12, member B EDDM3B 64184 ENSG00000181552 Eddm3b (MGI:2684921)
chr14 20780955 20782466 14q11.2 14q11.2 601981 RNASE6 Ribonuclease, RNase A family, k6 RNASE6 6039 ENSG00000169413 Rnase6 (MGI:1925666)
chr14 20801355 20802876 14q11.2 14q11.2 180440 RNASE1, RNS1 Ribonuclease, RNase A family, 1 (pancreatic) RNASE1 6035 ENSG00000129538 Rnase1 (MGI:97919)
chr14 20891402 20892347 14q11.2 14q11.2 131398 RNASE3, RNS3, ECP Ribonuclease, RNase A family, 3 (eosinophil cationic protein) RNASE3 6037 ENSG00000169397
chr14 20955470 20956434 14q11.2 14q11.2 131410 RNASE2, RNS2, EDN Ribonuclease, RNase A family, 2, liver (eosinophil-derived neurotoxin) RNASE2 6036 ENSG00000169385 Rnase2a,Rnase2b (MGI:1890465,MGI:1858598)
chr14 20989805 20997034 14q11.2 14q11.2 616091 METTL17, METT11D1 Methyltransferase-like 17 METTL17 64745 ENSG00000165792 Mettl17 (MGI:1098577)
chr14 20999254 21001874 14q11.2 14q11.2 612166 SLC39A2, ZIP2 Solute carrier family 39 (zinc transporter), member 2 SLC39A2 29986 ENSG00000165794 Slc39a2 (MGI:2684326)
chr14 21016762 21070871 14q11.2 14q11.2 605272 NDRG2 N-myc downstream-regulated gene 2 NDRG2 57447 ENSG00000165795 Ndrg2 (MGI:1352498)
chr14 21024261 21036351 14q11.2 14q11.2 616956 TPPP2, p18 Tubulin polymerization-promoting protein family, member 2 TPPP2 122664 ENSG00000179636 Tppp2 (MGI:2684923)
chr14 21042225 21044232 14q11.2 14q11.2 612484 RNASE7 Ribonuclease A family 7 RNASE7 84659 ENSG00000165799
chr14 21057821 21058454 14q11.2 14q11.2 612485 RNASE8 Ribonuclease A family, 8 RNASE8 122665 ENSG00000173431
chr14 21061275 21090247 14q11.2 14q11.2 610018 SOLO, FLJ10357 SOLO gene ARHGEF40 55701 ENSG00000165801 Arhgef40 (MGI:2685515)
chr14 21090045 21104720 14q11 14q11.2 605036 ZNF219 Zinc finger protein-219 ZNF219 51222 ENSG00000165804 Zfp219 (MGI:1917140)
chr14 21209135 21269478 14q11.2 14q11.2 164020 HNRNPC, HNRPC Heterogeneous nuclear ribonucleoprotein C HNRNPC 3183 ENSG00000092199 Hnrnpc (MGI:107795)
chr14 21287976 21351315 14q11 14q11.2 605446 RPGRIP1, LCA6, CORD13 Retinitis pigmentosa GTPase regulator-interacting protein RPGRIP1 57096 ENSG00000092200 Cone-rod dystrophy 13, 608194 (3); Leber congenital amaurosis 6, 613826 (3) Rpgrip1 (MGI:1932134)
chr14 21351471 21384265 14q11.2 14q11.2 605012 SUPT16H, SPT16 Suppressor of ty 16, S. cerevisiae, homolog of SUPT16H 11198 ENSG00000092201 Supt16 (MGI:1890948)
chr14 21385193 21437297 14q11.2 14q11.2 610528 CHD8, DUPLIN, KIAA1564, AUTS18 Chromodomain helicase DNA-binding protein 8 CHD8 57680 ENSG00000100888 {Autism, susceptibility to, 18}, 615032 (3), Autosomal dominant Chd8 (MGI:1915022)
chr14 21459019 21476972 14q11.1-q11.2 14q11.2 607466 RAB2B Ras-associated protein RAB2B RAB2B 84932 ENSG00000129472 Rab2b (MGI:1923588)
chr14 21477175 21499176 14q11.2 14q11.2 614032 TOX4, LCP1, KIAA0737 TOX high mobility group box family member 4 TOX4 9878 ENSG00000092203 Tox4 (MGI:1915389)
chr14 21498130 21511374 14q11.1 14q11.2 612472 METTL3, IME4 Methyltransferase-like 3 METTL3 56339 ENSG00000165819 Mettl3 (MGI:1927165)
chr14 21521079 21537215 14q11.1-q12 14q11.2 602219 SALL2, HSAL2, COLB Sal-like 2 SALL2 6297 ENSG00000165821 mutation identified in 1 COLB family ?Coloboma, ocular, autosomal recessive, 216820 (3), Autosomal recessive Sall2 (MGI:1354373)
chr14 22462931 22466576 14q11.2 14q11.2 186810 TRDC T-cell receptor delta chain constant region TRDC 28526 in midst of TCRA
chr14 22547505 22552131 14q11.2 14q11.2 186880 TRAC, TRCA, TRA, IMD7 T-cell receptor alpha TRAC 28755 cen--V-C--ter Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3), Autosomal recessive
chr14 22564906 22589236 14q11-q12 14q11.2 600243 DAD1 Defender against cell death 1 DAD1 1603 ENSG00000129562 Dad1 (MGI:101912)
chr14 22766521 22771788 14q11.2 14q11.2 601066 OXA1L Oxidase (cytochrome c) assembly 1-like OXA1L 5018 ENSG00000155463 Oxa1l (MGI:1916339)
chr14 22773221 22819810 14q11.2 14q11.2 603593 SLC7A7, LPI Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 SLC7A7 9056 ENSG00000155465 Lysinuric protein intolerance, 222700 (3), Autosomal recessive Slc7a7 (MGI:1337120)
chr14 22829861 22835036 14q11.2 14q11.2 611856 MRPL52 Mitochondrial ribosomal protein L52 MRPL52 122704 ENSG00000172590 Mrpl52 (MGI:1916086)
chr14 22836532 22847599 14q11-q12 14q11.2 600754 MMP14, WNCHRS Matrix metalloproteinase 14 (membrane-inserted) MMP14 4323 ENSG00000157227 mutation identified in 1 family ?Winchester syndrome, 277950 (3) Mmp14 (MGI:101900)
chr14 22871612 22881712 14q11.2 14q11.2 609921 LRP10, LRP9 Low density lipoprotein receptor-related protein 10 LRP10 26020 ENSG00000197324 Lrp10 (MGI:1929480)
chr14 22883164 22887679 14q11.2 14q11.2 616955 REM2 RRAD- and GEM-like GTPase 2 REM2 161253 ENSG00000139890 Rem2 (MGI:2155260)
chr14 22946227 22957141 14q11.2 14q11.2 613431 HAUS4, C14orf94 HAUS augmin-like complex, subunit 4 HAUS4 54930 ENSG00000092036 Haus4 (MGI:1261794)
chr14 23016542 23035219 14q11.2 14q11.2 600306 PSMB5, LMPX Proteasome subunit, beta type, 5 PSMB5 5693 ENSG00000100804 Psmb5 (MGI:1194513)
chr14 23042166 23044059 14q11.2 14q11.2 611137 PSMB11 Proteasome subunit, beta-type, 11 PSMB11 122706 ENSG00000222028 Psmb11 (MGI:1921152)
chr14 23058563 23095613 14q11.2 14q11.2 604562 ACIN1, KIAA0670 Acinus ACIN1 22985 ENSG00000100813 Acin1 (MGI:1891824)
chr14 23117305 23119610 14q11.2 14q11.2 600749 CEBPE, CRP1 CCAAT/enhancer-binding protein (C/EBP), epsilon CEBPE 1053 ENSG00000092067 Specific granule deficiency, 245480 (3), Autosomal recessive Cebpe (MGI:103572)
chr14 23125294 23183659 14q11.2 14q11.2 604235 SLC7A8, LAT2 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 SLC7A8 23428 ENSG00000092068 Slc7a8 (MGI:1355323)
chr14 23273634 23286099 11q11.2 14q11.2 608119 HOMEZ, KIAA1443 Homeodomain leucine zipper-containing factor HOMEZ 57594 ENSG00000215271 Homez (MGI:2678023)
chr14 23306761 23311758 14q11.2-q12 14q11.2 601931 BCL2L2, BCLW BCL2-like 2 BCL2L2 599 ENSG00000129473 Bcl2l2 (MGI:108052)
chr14 23320187 23326184 14q11.2-q13 14q11.2 602279 PABPN1, PABP2, PAB2 Poly(A)-binding protein, nuclear 1 PABPN1 8106 ENSG00000100836 Oculopharyngeal muscular dystrophy, 164300 (3), Autosomal dominant Pabpn1 (MGI:1859158)
chr14 23346303 23354990 14q11.2 14q11.2 611461 SLC22A17, NGALR, BOIT, BOCT, NGALR2, NGALR3 Solute carrier family 22, organic cation transporter, member 17 SLC22A17 51310 ENSG00000092096 Slc22a17 (MGI:1926225)
chr14 23356399 23365632 14q11.2-q12 14q11.2 609906 EFS Embryonal FYN-associated substrate EFS 10278 ENSG00000100842 Efs (MGI:105311)
chr14 23372808 23376402 14q11.2 14q11.2 605658 IL25, IL17E Interleukin 25 IL25 64806 ENSG00000166090 Il25 (MGI:2155888)
chr14 23376431 23379771 14q11.2 14q11.2 607888 CMTM5, CKLFSF5 CKLF-like marvel transmembrane domain-containing 5 CMTM5 116173 ENSG00000166091 Cmtm5 (MGI:2447164)
chr14 23381989 23408276 14q12 14q11.2 160710 MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3 Myosin, heavy polypeptide-6, cardiac muscle, alpha MYH6 4624 ENSG00000197616 Atrial septal defect 3, 614089 (3); Cardiomyopathy, dilated, 1EE, 613252 (3); Cardiomyopathy, hypertrophic, 14, 613251 (3), Autosomal dominant; {Sick sinus syndrome 3}, 614090 (3) Myh6 (MGI:97255)
chr14 23388595 23388665 14q12 14q11.2 611116 MIR208A, MIRN208A, MIR208, MIRN208 Micro RNA 208A MIR208A 406990
chr14 23412737 23435685 14q12 14q11.2 160760 MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD Myosin, heavy polypeptide-7, cardiac muscle, beta MYH7 4625 ENSG00000092054 5'-B-4.5kb-A-3' Cardiomyopathy, dilated, 1S, 613426 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 1, 192600 (3), Autosomal dominant; Laing distal myopathy, 160500 (3), Autosomal dominant; Left ventricular noncompaction 5, 613426 (3), Autosomal dominant; Myopathy, myosin storage, autosomal dominant, 608358 (3), Autosomal dominant; Myopathy, myosin storage, autosomal recessive, 255160 (3), Autosomal recessive; Scapuloperoneal syndrome, myopathic type, 181430 (3), Autosomal dominant Myh7 (MGI:2155600)
chr14 23415449 23417594 14q11.2 14q11.2 616096 MHRT Myosin heavy chain-associated RNA transcript, noncoding MHRT 104564225
chr14 23417986 23418062 14q11.2 14q11.2 613613 MIR208B, MIRN208B Micro RNA 208B MIR208B 100126336
chr14 23469688 23478192 14q11.2 14q11.2 610777 NGDN, NGD Neuroguidin NGDN 25983 ENSG00000129460 Ngdn (MGI:1916216)
chr14 23511759 23559580 14q11.2 14q11.2 611612 THTPA Thiamine triphosphatase THTPA 79178 ENSG00000259431 Thtpa (MGI:2446078)
chr14 23520854 23556314 14q11.2 14q11.2 617828 ZFHX2, ZFH5, ZNF409, KIAA1056, KIAA1762, MARSIS Zinc finger homeobox 2 ZFHX2 85446 ENSG00000136367 mutation identified in 1 MARSIS family ?Marsili syndrome, 147430 (3), Autosomal dominant Zfhx2 (MGI:2686934)
chr14 23630114 23645638 14q11.2 14q11.2 615194 DHRS2, HEP27 Short-chain dehydrogenase/reductase family, member 2 DHRS2 10202 ENSG00000100867
chr14 23938730 23955111 14q11.2 14q11.2 616925 DHRS4AS1, AS1DHRS4, C14orf67 DDHRS4 antisense RNA 1, noncoding DHRS4-AS1 55449
chr14 23953734 23969278 14q11.2 14q11.2 611596 DHRS4, NRDR Short-chain dehydrogenase/reductase family, member 4 DHRS4 10901 ENSG00000157326 Dhrs4 (MGI:90169)
chr14 23969873 24006407 14q11.2 14q11.2 615196 DHRS4L2 Short-chain dehydrogenase/reductase family, member 4-like 2 DHRS4L2 317749 ENSG00000187630
chr14 24007008 24051376 14q11.2 14q11.2 615195 DHRS4L1 Short-chain dehydrogenase/reductase family, member 4-like 1 DHRS4L1 728635 ENSG00000225766
chr14 24051996 24069727 14q11.2 14q11.2 614716 LRRC16B Leucine-rich repeat-containing protein 16B CARMIL3 90668 ENSG00000186648 Carmil3 (MGI:2448573)
chr14 24069832 24078099 14q11.2 14q11.2 605688 CPNE6 Copine VI CPNE6 9362 ENSG00000100884 Cpne6 (MGI:1334445)
chr14 24078685 24115013 14q11.1-q11.2 14q11-q12 162080 NRL, D14S46E, RP27 Neural retina leucine zipper NRL 4901 ENSG00000129535 Retinal degeneration, autosomal recessive, clumped pigment type (3); Retinitis pigmentosa 27, 613750 (3), Autosomal dominant Nrl (MGI:102567)
chr14 24094130 24104131 14q11.2-q12 14q11-q12 614095 PCK2, PEPCK2 Phosphoenolpyruvate carboxykinase 2, mitochondrial PCK2 5106 ENSG00000100889 PEPCK deficiency, mitochondrial, 261650 (1), Autosomal recessive Pck2 (MGI:1860456)
chr14 24100000 57600000 14q12-q22 602086 ARVD3 Arrhythmogenic right ventricular dysplasia 3 ARVD3 424 ?distinct from ARVD1 Arrhythmogenic right ventricular dysplasia 3, 602086 (2), Autosomal dominant
chr14 24100000 32900000 14q12 600792 DFNB5 Deafness, autosomal recessive 5 DFNB5 1697 Deafness, autosomal recessive 5, 600792 (2), Autosomal recessive
chr14 24100000 50400000 14q12-q21 611252 SPG32 Spastic paraplegia-32 SPG32 724107 between D14S264 and D14S978 Spastic paraplegia 32, autosomal recessive, 611252 (2), Autosomal recessive
chr14 24114696 24125241 14q11.2 14q12 613317 DCAF11, WDR23 DDB1- and CUL4-associated factor 11 DCAF11 80344 ENSG00000100897 Dcaf11 (MGI:90168)
chr14 24131465 24132848 14q12 14q12 612028 FITM1, FIT1 Fat storage-inducing transmembrane protein 1 FITM1 161247 ENSG00000139914 Fitm1 (MGI:1915930)
chr14 24136157 24138966 14q11.2 14q12 600654 PSME1, IFI5111 Proteasome activator subunit-1 PSME1 5720 ENSG00000092010 Psme1 (MGI:1096367)
chr14 24143364 24146645 14q11.2 14q12 602161 PSME2 Proteasome activator subunit-2 PSME2 5721 ENSG00000100911 Psme2 (MGI:1096365)
chr14 24146874 24160660 14q11.2 14q12 612487 RNF31, ZIBRA Ring finger protein 31 RNF31 55072 ENSG00000092098 Rnf31 (MGI:1934704)
chr14 24161212 24166564 14q11.2 14q12 147574 ISGF3, ISGF3G Interferon-stimulated gene transcription factor 3, gamma, 48kD IRF9 10379 ENSG00000213928 Irf9 (MGI:107587)
chr14 24171930 24180407 14q11.2-q12 14q12 608193 REC8L1, REC8 Rec8, S. pombe, homolog of REC8 9985 ENSG00000100918 Rec8 (MGI:1929645)
chr14 24205523 24208361 14q11.2 14q12 610711 TSSK4, TSSK5 Testis-specific serine/threonine kinase 4 TSSK4 283629 ENSG00000139908 Tssk4 (MGI:1918349)
chr14 24209580 24213829 14q12 14q12 610051 CHMP4A, SNF7 CHMP family, member 4A CHMP4A 29082 ENSG00000254505
chr14 24216850 24232369 14q12 14q12 603171 NEDD8 Neural precursor cel expressed, developmentally downregulated 8 NEDD8 4738 ENSG00000129559 Nedd8 (MGI:97301)
chr14 24232421 24239241 14q11-q21 14q12 610781 GMPR2 Guanosine monophosphate reductase 2 GMPR2 51292 ENSG00000100938 Gmpr2 (MGI:1917903)
chr14 24239640 24242673 14q12 14q12 604319 TINF2, TIN2, DKCA3 TRF1-interacting nuclear factor 2 TINF2 26277 ENSG00000092330 Dyskeratosis congenita, autosomal dominant 3, 613990 (3), Autosomal dominant; Revesz syndrome, 268130 (3), Autosomal dominant Tinf2 (MGI:107246)
chr14 24249113 24263209 14q11.2 14q12 190195 TGM1, ICR2, ARCI1 Transglutaminase-1 (K polypeptide epidermal type I, protein-glutamine gamma-glutamyltransferase) TGM1 7051 ENSG00000092295 Ichthyosis, congenital, autosomal recessive 1, 242300 (3), Autosomal recessive Tgm1 (MGI:98730)
chr14 24265537 24271626 14q11.2 14q12 601905 RABGGTA Rab geranylgeranyltransferase, alpha subunit RABGGTA 5875 ENSG00000100949 Rabggta (MGI:1860443)
chr14 24290597 24299832 14q21.3 14q12 610410 DHRS1 Short-chain dehydrogenase/reductase family, member 1 DHRS1 115817 ENSG00000157379 Dhrs1 (MGI:1196314)
chr14 24310150 24312052 14q11.2-q12 14q12 605773 LTB4R2, BLTR2, BLT2 Leukotriene B4 receptor 2 LTB4R2 56413 ENSG00000213906 Ltb4r2 (MGI:1888501)
chr14 24311498 24318035 14q11.2-q12 14q12 601531 LTB4R, CMKRL1, P2RY7, BLTR Leukotriene b4 receptor (purinergic receptor P2Y, G protein-coupled, 7; chemokine receptor-like 1) LTB4R 1241 ENSG00000213903 Ltb4r1 (MGI:1309472)
chr14 24318348 24335070 14q11.2 14q12 600292 ADCY4 Adenylate cyclase-4 ADCY4 196883 ENSG00000129467 Adcy4 (MGI:99674)
chr14 24336020 24340035 14q11.2 14q12 605817 RIPK3, RIP3 Receptor-interacting serine/threonine kinase 3 RIPK3 11035 ENSG00000129465 Ripk3 (MGI:2154952)
chr14 24366910 24379603 Chr.14 14q12 602699 NFATC4 Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 4 NFATC4 4776 ENSG00000100968 Nfatc4 (MGI:1920431)
chr14 24426531 24429524 14q12 14q12 612978 CBLN3 Precerebellin 3 CBLN3 643866 ENSG00000139899 Cbln3 (MGI:1889286)
chr14 24439764 24442904 14q12 14q12 616162 SDR39U1 Short-chain dehydrogenase/reductase family 39U, member 1 SDR39U1 56948 ENSG00000100445 Sdr39u1 (MGI:1916876)
chr14 24505354 24508264 14q11.2 14q12 118938 CMA1 Chymase-1, mast cell CMA1 1215 ENSG00000092009 Cma1 (MGI:96941)
chr14 24573517 24576259 14q11.2 14q12 116830 CTSG Cathepsin G CTSG 1511 ENSG00000100448 Ctsg (MGI:88563)
chr14 24606479 24609762 14q11.2 14q12 116831 GZMH, CTSGL2 Granzyme H (cathepsin G-like 2) GZMH 2999 ENSG00000100450 Gzmd,Gzme,Gzmf,Gzmg (MGI:109253,MGI:109255,MGI:109265,MGI:109254)
chr14 24630953 24634268 14q11.2 14q12 123910 GZMB, CTLA1, CSPB Granzyme B (cytotoxic T-lymphocyte-associated serine esterase-1; cathepsin G-like 1) GZMB 3002 ENSG00000100453
chr14 24809653 25050296 14q12 14q12 607958 STXBP6, AMISYN, HSPC156 Syntaxin-binding protein 6 STXBP6 29091 ENSG00000168952 Stxbp6 (MGI:2384963)
chr14 26445882 26597753 14q12 14q12 602157 NOVA1 NOVA alternative splicing regulator 1 NOVA1 4857 ENSG00000139910 Nova1 (MGI:104297)
chr14 28767071 28770276 14q13 14q12 164874 FOXG1, FOXG1B, FKHL1, FKH2, QIN, BF1 Forkhead box G1B FOXG1 2290 ENSG00000176165 Rett syndrome, congenital variant, 613454 (3), Autosomal dominant Foxg1 (MGI:1347464)
chr14 29576478 29927804 14q12 14q12 605435 PRKD1, PRKCM, PKD, CHDED Protein kinase D1 PRKD1 5587 ENSG00000184304 Congenital heart defects and ectodermal dysplasia, 617364 (3), Autosomal dominant Prkd1 (MGI:99879)
chr14 30559122 30620063 14q12 14q12 611299 G2E3, KIAA1333 G2/M phase-specific E3 ubiquitin ligase G2E3 55632 ENSG00000092140 G2e3 (MGI:2444298)
chr14 30874495 30890617 14q12-q13 14q12 603196 COCH, DFNA9 Cochlin COCH 1690 ENSG00000100473 Deafness, autosomal dominant 9, 601369 (3), Autosomal dominant Coch (MGI:1278313)
chr14 30893798 31026400 14q12 14q12 614766 STRN3, SG2NA Striatin, calmodulin-binding protein 3 STRN3 29966 ENSG00000196792 Strn3 (MGI:2151064)
chr14 31025105 31096449 14q12 14q12 607243 AP4S1, CPSQ6, SPG52 Adaptor-related protein complex 4, sigma-1 subunit AP4S1 11154 ENSG00000100478 Spastic paraplegia 52, autosomal recessive, 614067 (3), Autosomal recessive Ap4s1 (MGI:1337065)
chr14 31482943 31487944 14q12 14q12 610118 GPR33 G protein-coupled receptor 33 GPR33 2856 ENSG00000214943 Gpr33 (MGI:1277106)
chr14 31561384 31861292 14q12 14q12 613621 NUBPL, IND1 Nucleotide-binding protein-like protein NUBPL 80224 ENSG00000151413 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Nubpl (MGI:1924076)
chr14 32072587 32159727 14q12 14q12 602680 ARHGAP5, RHOGAP5 RHO GTPase-activating protein 5 ARHGAP5 394 ENSG00000100852 Arhgap5 (MGI:1332637)
chr14 32203609 32833998 14q 14q12 604691 ADAP6, ADAP100 A-kinase anchor protein 6 AKAP6 9472 ENSG00000151320 Akap6 (MGI:3050566)
chr14 32900000 37400000 14q13 609408 HPE8 Holoprosencephaly 8 619406 between D14S49 and D14S1014 Holoprosencephaly 8, 609408 (2)
chr14 32900000 50400000 14q13-q21 608831 RLS2 Restless legs syndrome, susceptibility to, 2 450097 max lod at D14S288 {Restless legs syndrome 2}, 608831 (2)
chr14 32934784 33804175 14q13 14q13.1 609430 NPAS3, MOP6 Neuronal PAS domain protein 3 NPAS3 64067 ENSG00000151322 Npas3 (MGI:1351610)
chr14 33924214 33951077 14q13.1 14q13.1 606426 EGLN3, PHD3, HIFP4H3 Egl9, C. elegans, homolog of, 3 EGLN3 112399 ENSG00000129521 Egln3 (MGI:1932288)
chr14 34432937 34462261 14q13.1 14q13.1 613540 SPTSSA, C14orf147, SSSPTA Serine palmitoyltransferase, small subunit, A SPTSSA 171546 ENSG00000165389 Sptssa (MGI:1913399)
chr14 34561092 34630182 14q13.1 14q13.1 606098 SNX6 Sorting nexin 6 SNX6 58533 ENSG00000129515 Snx6 (MGI:1919433)
chr14 34710381 34714822 14q12 14q13.1 601443 CFL2, NEM7 Cofilin 2, muscle CFL2 1073 ENSG00000165410 Nemaline myopathy 7, autosomal recessive, 610687 (3), Autosomal recessive Cfl2 (MGI:101763)
chr14 34752730 34875646 14q12-q13 14q13.1-q13.2 605680 BAZ1A Bromodomain adjacent to zinc finger domain, 1A BAZ1A 11177 ENSG00000198604 Baz1a (MGI:1309478)
chr14 34982897 35029566 14q13.2 14q13.2 604857 SRP54 Signal recognition particle, 54kD SRP54 6729 ENSG00000100883 Srp54a,Srp54b (MGI:3714357,MGI:1346087)
chr14 35085466 35122661 14q13.2 14q13.2 615902 PPP2RC2, G5PR Protein phosphatase 2, regulatory subunit B-double prime, gamma PPP2R3C 55012 ENSG00000092020 Ppp2r3c (MGI:1930009)
chr14 35122302 35274077 14q13 14q13.2 609947 KIAA0391 KIAA0391 gene KIAA0391 9692 ENSG00000100890 1110008L16Rik (MGI:1913382)
chr14 35278557 35317478 14q13 14q13.2 602855 PSMA6, PROS27, P27K Proteasome subunit, alpha-type, 6 PSMA6 5687 ENSG00000100902 {Myocardial infarction, susceptibility to}, 608446 (3) Psma6 (MGI:1347006)
chr14 35401509 35404753 14q13 14q13.2 164008 NFKBIA, IKBA Nuclear factor of kappa light chain gene enhancer in B-cells inhibitor, alpha NFKBIA 4792 ENSG00000100906 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132 (3), Autosomal dominant Nfkbia (MGI:104741)
chr14 35534041 35537053 14q13.2 14q13.2 614027 INSM2, IA6 Insulinoma-associated 2 INSM2 84684 ENSG00000168348 Insm2 (MGI:1930787)
chr14 35538351 35809322 14q13.2 14q13.2 608884 RALGAPA1, GARNL1, TULIP1, GRIPE, KIAA0884 Ral GTPase activating protein, alpha subunit 1 (catalytic) RALGAPA1 253959 ENSG00000174373 pseudogene on 9q31.1 Ralgapa1 (MGI:1931050)
chr14 36100000 43000000 14q13.3-q21.1 604461 HPV6AI1 Human papillomavirus type 6A integration site 1 HPV6AI1 3259 previously assigned to 10q24
chr14 36135709 36176650 14q13.3 14q13.3 614821 PTCSC3 PTCSC3 gene PTCSC3 100886964
chr14 36298557 36320675 14q13.3 14q13.3 609431 MBIP MAP3K12-binding inhibitory protein MBIP 51562 ENSG00000151332 Mbip (MGI:1918320)
chr14 36473287 36519520 14q13.3 14q13.3 617860 SFTA3, SPH Surfactant-associated protein 3 SFTA3 253970 ENSG00000229415
chr14 36516396 36520224 14q13 14q13.3 600635 NKX2-1, TITF1, NKX2A, TTF1, NMTC1 NK2 homeobox 1 NKX2-1 7080 ENSG00000136352 Chorea, hereditary benign, 118700 (3), Autosomal dominant; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3), Autosomal dominant; {Thyroid cancer, nonmedullary, 1}, 188550 (3), Autosomal dominant Nkx2-1 (MGI:108067)
chr14 36580010 36582613 14q12-q13 14q13.3 603245 NKX2-8, NKX2H, NKX2.8 NK2 homeobox 8 NKX2-8 26257 ENSG00000136327 Nkx2-9 (MGI:1270158)
chr14 36657567 36677806 14q12-q13 14q13.3 167416 PAX9, STHAG3 Paired box gene 9 PAX9 5083 ENSG00000198807 Tooth agenesis, selective, 3, 604625 (3), Autosomal dominant Pax9 (MGI:97493)
chr14 36677317 37172659 14q11.2 14q13.3 607571 SLC25A21, ODC Solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 SLC25A21 89874 ENSG00000183032 Slc25a21 (MGI:2445059)
chr14 37197887 37579206 14q13 14q13.3-q21.1 606850 MIPOL1 MIPOL1 gene MIPOL1 145282 ENSG00000151338 Mipol1 (MGI:1920740)
chr14 37589551 37595119 14q13 14q21.1 602294 FOXA1, HNF3A Forkhead box A1 (hepatocyte nuclear factor-3, alpha) FOXA1 3169 ENSG00000129514 Foxa1 (MGI:1347472)
chr14 38207998 38213062 14q13 14q21.1 182451 SSTR1 Somatostatin receptor-1 SSTR1 6751 ENSG00000139874 Sstr1 (MGI:98327)
chr14 38253999 38256369 14q21.1 14q21.1 616845 CLEC14A C-type lectin domain family 14, member A CLEC14A 161198 ENSG00000176435 Clec14a (MGI:1914114)
chr14 39031918 39103527 14q21.1 14q21.1 610511 SEC23A, CLSD Sec23, S. cerevisiae, homolog of, A SEC23A 10484 ENSG00000100934 Craniolenticulosutural dysplasia, 607812 (3), Autosomal recessive Sec23a (MGI:1349635)
chr14 39114260 39136972 14q21.1 14q21.1 602595 GEMIN2, SIP1 GEM-associated protein 2 GEMIN2 8487 ENSG00000092208 Gemin2 (MGI:1913853)
chr14 39147810 39170429 14q21.1 14q21.1 610397 TRAPPC6B, TPC6, NEDMEBA Trafficking protein particle complex, subunit 6B TRAPPC6B 122553 ENSG00000182400 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862 (3) Trappc6b (MGI:1925482)
chr14 39175182 39183217 Chr.14 14q21.1 603154 PNN, DRS Pinin PNN 5411 ENSG00000100941 Pnn (MGI:1100514)
chr14 39233915 39388512 14q 14q21.1 602132 MGEA, MEA6 Meningioma-expressed antigen 6 MIA2 4253 ENSG00000150527 ?pseudogenes on other chromosomes
chr14 39396372 39432499 14q13.3 14q21.1 609103 FBXO33, FBX33, BMND12 F-box only protein 33 FBXO33 254170 ENSG00000165355 Fbxo33 (MGI:1917861)
chr14 41606855 41904548 14q21.2 14q21.1 612811 LRFN5, SALM5 Leucine-rich repeat and fibronectin type III domain-containing protein 5 LRFN5 145581 ENSG00000165379 Lrfn5 (MGI:2144814)
chr14 43000000 57600000 14q21.2-q22.3 607501 MGR4, MGOA Migraine without aura, susceptibility to, 4 338342 between D14S976 and D14S978 {Migraine without aura, susceptibility to, 4}, 607501 (2), Autosomal dominant
chr14 44504148 44507295 14q21.3 14q21.2 611779 FSCB, C14orf155 Fibrous sheath cabyr-binding protein FSCB 84075 ENSG00000189139
chr14 44962189 45074430 14q21.2 14q21.2 617618 TOGARAM1, FAM179B, KIAA0423 TOG array regulator of axonemal microtubules 1 TOGARAM1 23116 ENSG00000198718 Togaram1 (MGI:2684313)
chr14 45084098 45115600 14q21.2 14q21.2 614907 PRPF39 Precursor mRNA-processing factor 39, S. cerevisiae, homolog of PRPF39 55015 ENSG00000185246 Prpf39 (MGI:104602)
chr14 45115291 45134528 14q21.2 14q21.2 186947 FKBP3, FKBP25 FK506-binding protein 3 FKBP3 2287 ENSG00000100442 Fkbp3 (MGI:1353460)
chr14 45135938 45200889 14q21.3 14q21.2 609644 FANCM, KIAA1596 FANCM gene FANCM 57697 ENSG00000187790 Fancm (MGI:2442306)
chr14 46836517 47675315 14q21 14q21.3 611128 MDGA2 MAM domain-containing glycosylphosphatidylinositol anchor 2 MDGA2 161357 ENSG00000139915 Mdga2 (MGI:2444706)
chr14 49570983 49598709 14q 14q21.3 603633 RPS29, DBA13 Ribosomal protein S29 RPS29 6235 ENSG00000213741 Diamond-Blackfan anemia 13, 615909 (3), Autosomal dominant Rps29 (MGI:107681)
chr14 49586579 49586877 14q22.1 14q21.3 612177 RN7SL1, 7SL, 7L1A RNA, 7SL, cytoplasmic 1 RN7SL1 6029
chr14 49618687 49620684 Chr.14 14q21.3 180469 RPL36AL, RPL36A Ribosomal protein L36a-like RPL36AL 6166 ENSG00000165502 Rpl36al (MGI:1913733)
chr14 49620770 49623480 14q21 14q21.3 602616 MGAT2, CDGS2, CDG2A Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyl- transferase MGAT2 4247 ENSG00000168282 Congenital disorder of glycosylation, type IIa, 212066 (3), Autosomal recessive Mgat2 (MGI:2384966)
chr14 49625173 49635229 14q21.3 14q21.3 612517 KTU, C14orf104, CILD10 Kintoun, Medaka, homolog of DNAAF2 55172 ENSG00000165506 Ciliary dyskinesia, primary, 10, 612518 (3) Dnaaf2 (MGI:1923566)
chr14 49643551 49688416 14q13-q21 14q21.3 602670 POLE2, DPE2 Polymerase, DNA, epsilon-2 POLE2 5427 ENSG00000100479 Pole2 (MGI:1197514)
chr14 49690461 49753151 14q21.3 14q21.3 611281 KLHDC1 KELCH domain-containing protein 1 KLHDC1 122773 ENSG00000197776 Klhdc1 (MGI:2672853)
chr14 49767607 49786384 14q21.3 14q21.3 611280 KLHDC2, HCLP1 KELCH domain-containing protein 2 KLHDC2 23588 ENSG00000165516 Klhdc2 (MGI:1916804)
chr14 49782082 49853202 14q22 14q21.3 608378 NEMF, SDCCAG1 Nuclear export mediator factor NEMF 9147 ENSG00000165525 Nemf (MGI:1918305)
chr14 49853615 49853913 14q22.1 14q21.3 612180 RN7SL3 RNA, 7SL, cytoplasmic 3 RN7SL3 378707
chr14 49862550 49862848 14q22.1 14q21.3 612179 RN7SL2, 7L1C RNA, 7SL, cytoplasmic 2 RN7SL2 378706
chr14 49893017 49897053 14q21.3 14q21.3 600464 ARF6 ADP-ribosylation factor 6 ARF6 382 ENSG00000165527 Arf6 (MGI:99435)
chr14 50100455 50116578 14q21.3 14q21.3 615260 VCPKMT, METTL21D, C14orf138 Valosin-containing protein lysine methyltransferase VCPKMT 79609 ENSG00000100483 Vcpkmt (MGI:2684917)
chr14 50117118 50231692 14q21 14q21.3 601247 SOS2, NS9 Son of sevenless, Drosophila, homolog of, 2 SOS2 6655 ENSG00000100485 Noonan syndrome 9, 616559 (3), Autosomal dominant Sos2 (MGI:98355)
chr14 50242433 50312228 14q22.1 14q21.3 609584 L2HGDH, C14orf160, L2HGA L-2-hydroxyglutarate dehydrogenase L2HGDH 79944 ENSG00000087299 L-2-hydroxyglutaric aciduria, 236792 (3), Autosomal recessive L2hgdh (MGI:2384968)
chr14 50329403 50397403 14q21.3 14q21.3 603441 CDKL1, KKIALRE, p42 Cyclin-dependent kinase-like 1 CDKL1 8814 ENSG00000100490 Cdkl1 (MGI:1918341)
chr14 50400000 67400000 14q22-q23 115650 CTRCT32, CTAA1, CAP, CTPP5 Cataract 32, multiple types CTAA1 1483 between D14S980 and D14S1069 Cataract 32, multiple types, 115650 (2), Autosomal dominant
chr14 50400000 57600000 14q22.1-q22.3 609640 FRIASS, DEL14q22, C14DELq22 Frias syndrome deletion spans 4.1 Mb on 14q22.1-q22.3 Frias syndrome, 609640 (4), Autosomal dominant
chr14 50400000 73300000 14q22.1-q24.2 255500 MYP18 Myopia 18 MYP18 100359406 between D14S984 and D14S999 Myopia 18, 255500 (2), Autosomal recessive
chr14 50533081 50633067 14q11-q21 14q22.1 606439 ATL1, SPG3A, HSN1D Atlastin GTPase 1 ATL1 51062 ENSG00000198513 Neuropathy, hereditary sensory, type ID, 613708 (3), Autosomal dominant; Spastic paraplegia 3A, autosomal dominant, 182600 (3), Autosomal dominant Atl1 (MGI:1921241)
chr14 50418491 50561125 Chr.14 14q22.1 604923 MAP4K5, MAPKKKK5 Mitogen-activated protein kinase kinase kinase kinase-5 MAP4K5 11183 ENSG00000012983 Map4k5 (MGI:1925503)
chr14 50633103 50668352 14q13-q23 14q22.1 607203 WW45, SAV WW domain-containing protein, 45kD SAV1 60485 ENSG00000151748 Sav1 (MGI:1927144)
chr14 50719762 50831139 14q22.1 14q22.1 608684 NIN, KIAA1565, SCKL7 Ninein NIN 51199 ENSG00000100503 mutation identified in 1 SCKL7 family ?Seckel syndrome 7, 614851 (3), Autosomal recessive Nin (MGI:105108)
chr14 50905216 50944529 14q22.1 14q22.1 613741 PYGL Phosphorylase, glycogen, liver PYGL 5836 ENSG00000100504 Glycogen storage disease VI, 232700 (3), Autosomal recessive Pygl (MGI:97829)
chr14 50975260 51105172 14q21-q24 14q22.1 606555 TRIM9, SPRING, KIAA0282 Tripartite motif-containing protein 9 TRIM9 114088 ENSG00000100505 Trim9 (MGI:2137354)
chr14 51240167 51257654 14q22.1 14q22.1 610527 TXNDC1, TMX Thioredoxin domain-containing 1 TMX1 81542 ENSG00000139921 Tmx1 (MGI:1919986)
chr14 51489099 51730726 14q22.1 14q22.1 614555 FRMD6, WILLIN, C14orf31 FERM domain-containing protein 6 FRMD6 122786 ENSG00000139926 Frmd6 (MGI:2442579)
chr14 51847130 51969799 14q21 14q22.1 606981 GNG2 Guanine nucleotide-binding protein, gamma-2 GNG2 54331 ENSG00000186469 Gng2 (MGI:102705)
chr14 51989509 52004701 14q22.1 14q22.1 610858 C14orf166, CGI99 Chromosome 14 open reading frame 166 RTRAF 51637 ENSG00000087302 Rtraf (MGI:1915295)
chr14 52004801 52069227 Chr.14 14q22.1 605399 NID2 Nidogen 2 NID2 22795 ENSG00000087303 Nid2 (MGI:1298229)
chr14 52267255 52276723 14q22.1 14q22.1 604687 PTGDR, AS1, ASRT1 Prostaglandin D2 receptor PTGDR 5729 ENSG00000168229 {Asthma, susceptibility to, 1}, 607277 (3) Ptgdr (MGI:102966)
chr14 52314297 52328605 14q22 14q22.1 176804 PTGER2 Prostaglandin E receptor 2, EP2 subtype, 53kD PTGER2 5732 ENSG00000125384 {Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive Ptger2 (MGI:97794)
chr14 52430589 52552582 14q22.1 14q22.1 616179 TXNDC16, KIAA1344 Thioredoxin domain-containing protein 16 TXNDC16 57544 ENSG00000087301 Txndc16 (MGI:1917811)
chr14 52639914 52695930 14q22.1 14q22.1 615435 ERO1L, ERO1LA Endoplasmic reticulum oxidoreduction 1-like ERO1A 30001 ENSG00000197930 Ero1l (MGI:1354385)
chr14 52707156 52727997 14q22.1 14q22.1 602708 PSMC6 Proteasome 26S subunit, ATPase, 6 PSMC6 5706 ENSG00000100519 previously assigned to 12q15 by FISH Psmc6 (MGI:1914339)
chr14 52730158 52774988 14q22.1 14q22.1 615814 STYX Serine/threonine/tyrosine-interacting protein STYX 6815 ENSG00000198252 Styx (MGI:1891150)
chr14 52775192 52791667 14q22.1 14q22.1 616510 GNPNAT1, GNA1 Glucosamine-phosphate N-acetyltransferase 1 GNPNAT1 64841 ENSG00000100522 Gnpnat1 (MGI:1858963)
chr14 52857270 52951096 14q22.1 14q22.1 607746 FERMT2, PLEKHC1, MIG2, UNC112, KIND2 Fermitin family, Drosophila, homolog of, 2 FERMT2 10979 ENSG00000073712 Fermt2 (MGI:2385001)
chr14 53036739 53153327 14q22.1 14q22.1 614603 DDHD1, PAPLA1, KIAA1705, SPG28 DDHD domain-containing protein 1 DDHD1 80821 ENSG00000100523 Spastic paraplegia 28, autosomal recessive, 609340 (3), Autosomal recessive Ddhd1 (MGI:2150302)
chr14 53600000 55000000 14q22.2 612589 CRCS8 Colorectal cancer, susceptibility to, 8 100271690 associated with rs4444235 {Colorectal cancer, susceptibility to, 8}, 612589 (2)
chr14 53949735 53956890 14q22.2 14q22.2 112262 BMP4, BMP2B1, BMP2B, MCOPS6, OFC11 Bone morphogenetic protein-4 BMP4 652 ENSG00000125378 Microphthalmia, syndromic 6, 607932 (3), Autosomal dominant; Orofacial cleft 11, 600625 (3) Bmp4 (MGI:88180)
chr14 54396867 54420217 14q22 14q22.2 123832 CDKN3 Cyclin-dependent kinase inhibitor 3 (CDK2-associated dual specificity phosphatase) CDKN3 1033 ENSG00000100526 Cdkn3 (MGI:1919641)
chr14 54426928 54441429 14q22.2 14q22.2 611287 CNIH, TGAM77 Cornichon, Drosophila, homolog of CNIH1 10175 ENSG00000100528 Cnih1 (MGI:1277202)
chr14 54474490 54489025 14q22.2 14q22.2 601713 GMFB, GMF Glia maturation factor, beta GMFB 2764 ENSG00000197045 Gmfb (MGI:1927133)
chr14 54509868 54539309 14q22.1 14q22.2 606138 GCRRF1, CGR19 Cell growth regulator with ring finger domain 1 CGRRF1 10668 ENSG00000100532 Cgrrf1 (MGI:1916368)
chr14 54567096 54793314 14q22.2 14q22.2 610747 SAMD4A, SMAUG1, KIAA1053 Sterile alpha motif domain-containing 4A SAMD4A 23034 ENSG00000020577 Samd4 (MGI:1921730)
chr14 54842004 54902823 14q22.1-q22.2 14q22.2 600225 GCH1, DYT5, HPABH4B GTP cyclohydrolase 1 GCH1 2643 ENSG00000131979 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3), Autosomal recessive, Autosomal dominant; Hyperphenylalaninemia, BH4-deficient, B, 233910 (3), Autosomal recessive Gch1 (MGI:95675)
chr14 54938937 55027105 14q22.2 14q22.2-q22.3 608126 WDHD1, AND1 WD repeat and HMG-box DNA binding protein 1 WDHD1 11169 ENSG00000198554 Wdhd1 (MGI:2443514)
chr14 55027125 55049488 14q22.3 14q22.3 616337 SOCS4, SOCS7 Suppressor of cytokine signaling 4 SOCS4 122809 ENSG00000180008 Socs4 (MGI:1914546)
chr14 55051643 55070193 14q22.3 14q22.3 617226 MAP1IP1L, MISS Mitogen-activated protein kinase 1-interacting protein 1-like protein MAPK1IP1L 93487 ENSG00000168175 Mapk1ip1l (MGI:2444022)
chr14 55129216 55145429 14q21-q22 14q22.3 153619 LGALS3, MAC2, GALBP Lectin, galactose-binding, soluble, 3 LGALS3 3958 ENSG00000131981 assigned earlier to 1p13 Lgals3 (MGI:96778)
chr14 55148115 55191677 14q22.3 14q22.3 617859 DLGAP5, DLG7, HURP, KIAA0008 Discs large-associated protein 5 DLGAP5 9787 ENSG00000126787 Dlgap5 (MGI:2183453)
chr14 55229192 55229935 14q24.3 14q22.3 600012 UBE2L1, UBCL, UBC4 Ubiquitin-conjugating enzyme E2L 1 UBE2L1 283556
chr14 55271302 55353610 14q22.2 14q22.3 609104 FBXO34, FBX34 F-box only protein 34 FBXO34 55030 ENSG00000178974 Fbxo34 (MGI:1926188)
chr14 55366390 55411857 14q22.3 14q22.3 613515 ATG14, ATG14L, KIAA0831, BARKOR Autophagy 14, S. cerevisiae, homolog of ATG14 22863 ENSG00000126775 Atg14 (MGI:1261775)
chr14 55580206 55684583 14q22 14q22.3 600381 KTN1, CG1 Kinectin KTN1 3895 ENSG00000126777
chr14 56118328 56301585 14q21 14q22.3 614798 PELI2 Pellino, Drosophila, homolog of, 2 PELI2 57161 ENSG00000139946 Peli2 (MGI:1891445)
chr14 56579791 56660628 14q22.3 14q22.3 617449 TMEM260, C14orf101, SHDRA Transmembrane protein 260 TMEM260 54916 ENSG00000070269 Structural heart defects and renal anomalies syndrome, 617478 (3), Autosomal recessive Tmem260 (MGI:2443219)
chr14 56800706 56810475 14q22.3 14q22.3 600037 OTX2, MCOPS5, CPHD6 Orthodenticle, Drosophila, homolog of, 2 OTX2 5015 ENSG00000165588 Microphthalmia, syndromic 5, 610125 (3), Autosomal dominant; Pituitary hormone deficiency, combined, 6, 613986 (3), Autosomal dominant; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3), Autosomal dominant Otx2 (MGI:97451)
chr14 57202475 57268898 14q22.3 14q22.3 604469 EXOC5, SEC10L1 Exocyst complex component 5 EXOC5 10640 ENSG00000070367 Exoc5 (MGI:2145645)
chr14 57268887 57298741 14q22.3 14q22.3 614368 AP5M1, MUDENG, MUD, C14orf108 Adaptor-related protein complex 5, mu-1 subunit AP5M1 55745 ENSG00000053770 Ap5m1 (MGI:1921635)
chr14 57600000 67400000 14q23 612162 ANIB8 Aneurysm, intracranial berry, 8 100188886 associated with rs767603 Aneurysm, intracranial berry, 8, 612162 (2)
chr14 57600000 67400000 14q23 606972 EIG2 Epilepsy, idiopathic generalized, susceptibility to, 2 353124 {Epilepsy, idiopathic generalized, susceptibility to, 2}, 606972 (2)
chr14 58244804 58272008 14q23 14q23.1 176843 PSMA3 Proteasome (prosome, macropain) subunit, alpha type, 3 PSMA3 5684 ENSG00000100567 Psma3 (MGI:104883)
chr14 58298384 58373732 14q23.1 14q23.1 180201 ARID4A, RBP1, RBBP1 AT-rich interactive domain-containing protein 4A ARID4A 5926 ENSG00000032219 Arid4a (MGI:2444354)
chr14 58408493 58427613 14q21 14q23.1 607384 TIMM9, TIM9 Translocase of inner mitochondrial membrane 9, yeast, homolog of TIMM9 26520 ENSG00000100575 Timm9 (MGI:1353436)
chr14 58427384 58548830 14q23.1 14q23.1 610178 KIAA0586, TALPID3, JBTS23, SRTD14 KIAA0586 gene KIAA0586 9786 ENSG00000100578 Joubert syndrome 23, 616490 (3), Autosomal recessive; Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive 2700049A03Rik (MGI:1924217)
chr14 58634067 58648320 14q22.3 14q23.1 607861 DACT1, DPR1, DAPPER1, FRODO, TBS2 Dapper, antagonist of beta-catenin, 1 DACT1 51339 ENSG00000165617 mutation identified in 1 TBS2 family ?Townes-Brocks syndrome 2, 617466 (3), Autosomal dominant Dact1 (MGI:1891740)
chr14 59188656 59371404 14q23.1 14q23.1 606626 DAAM1, KIAA0666 Dishevelled-associated activator of morphogenesis 1 DAAM1 23002 ENSG00000100592 Daam1 (MGI:1914596)
chr14 59452772 59465635 14q23.1 14q23.1 607970 GPR135 G protein-coupled receptor 135 GPR135 64582 ENSG00000181619 Gpr135 (MGI:2676315)
chr14 59472610 59505265 14q23.1 14q23.1 614811 L3HYPDH, C14orf149 L-3-hydroxyproline dehydratase, trans L3HYPDH 112849 ENSG00000126790 L3hypdh (MGI:1914467)
chr14 59484442 59505406 14q23.1 14q23.1 611176 JKAMP, C24orf100, JAMP JNK1/MAPK8-associated membrane protein JKAMP 51528 ENSG00000050130 Jkamp (MGI:1915057)
chr14 59595975 59871287 14q21-q22 14q23.1 600865 RTN1, NSP Reticulon 1 (neuroendocrine-specific protein) RTN1 6252 ENSG00000139970 Rtn1 (MGI:1933947)
chr14 60144118 60169863 14q23.1 14q23.1 612833 DHRS7, RETSDR4 Short-chain dehydrogenase/reductase family, member 7 DHRS7 51635 ENSG00000100612 Dhrs7 (MGI:1913625)
chr14 60245751 60299086 14q23.1 14q23.1 606108 PPM1A, PP2CA Protein phosphatase, magnesium/manganese-dependent, 1A PPM1A 5494 ENSG00000100614 Ppm1a (MGI:99878)
chr14 60435953 60499773 14q23.1 14q23.1 617307 C14orf39, SIX6OS1 Chromosome 14 open reading frame 39 C14orf39 317761 ENSG00000179008 4930447C04Rik (MGI:1923051)
chr14 60509219 60511806 14q23 14q23.1 606326 SIX6, ODRMD Sine oculis homeo box, Drosophila, homolog of, 6 SIX6 4990 ENSG00000184302 Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3), Autosomal recessive Six6 (MGI:1341840)
chr14 60644698 60649488 14q23 14q23.1 601205 SIX1, BOS3, DFNA23 Sine oculis homeo box, Drosophila, homolog of, 1 SIX1 6495 ENSG00000126778 Branchiootic syndrome 3, 608389 (3), Autosomal dominant; Deafness, autosomal dominant 23, 605192 (3), Autosomal dominant Six1 (MGI:102780)
chr14 60709537 60724320 14q23 14q23.1 606342 SIX4 Sine oculis homeo box, Drosophila, homolog of, 4 SIX4 51804 ENSG00000100625 Six4 (MGI:106034)
chr14 60734734 60969880 14q23 14q23.1 602659 MNAT1, MAT1 Menage a trois 1 MNAT1 4331 ENSG00000020426 Mnat1 (MGI:106207)
chr14 60971440 60981689 14q23.1 14q23.1 611023 TRMT5, TRM5, KIAA1393, COXPD26 tRNA methyltransferase 5, S. cerevisiae, homolog of TRMT5 57570 ENSG00000126814 Combined oxidative phosphorylation deficiency 26, 616539 (3), Autosomal recessive Trmt5 (MGI:1923607)
chr14 60981113 61083732 14q23.1 14q23.1 616518 SLC38A6, SNAT6 Solute carrier family 38 (amino acid transporter), member 6 SLC38A6 145389 ENSG00000139974 Slc38a6 (MGI:3648156)
chr14 61187304 61550979 14q22-q23 14q23.1 605437 PRKCH, PKCL, PRKCL Protein kinase C, eta PRKCH 5583 ENSG00000027075 {Cerebral infarction, susceptibility to}, 601367 (3), Multifactorial Prkch (MGI:97600)
chr14 61277369 61281811 14q23.1 14q23.1 611029 TMEM30B, CDC50B Transmembrane protein 30B TMEM30B 161291 ENSG00000182107 Tmem30b (MGI:2442082)
chr14 61600000 64300000 14q23.2 609113 TELM Telomere length, mean leukocyte 550641 suggestive QTL on 12, 10q, 3p [Telomere length, mean leukocyte], 609113 (2)
chr14 61681040 61695822 14q23.2 14q23.2 614528 HIF1AAS1 HIF1A antisense RNA 1 HIF1A-AS1 100750246
chr14 61695400 61748258 14q21-q24 14q23.2 603348 HIF1A, MOP1 Hypoxia-inducible factor 1, alpha subunit HIF1A 3091 ENSG00000100644 Hif1a (MGI:106918)
chr14 61747038 61749088 14q23.2 14q23.2 614529 HIF1AAS2 HIF1A antisense RNA 2 HIF1A-AS2 100750247
chr14 61762356 61796427 14q23.2 14q23.2 600591 SNAPC1, SNAP43 Small nuclear RNA-activating protein complex, polypeptide 1 SNAPC1 6617 ENSG00000023608 Snapc1 (MGI:1922877)
chr14 61812155 62112824 14q23.1 14q23.2 610950 SYT16, STREP14 Synaptotagmin 16 SYT16 83851 ENSG00000139973 Syt16 (MGI:2673872)
chr14 62706572 63045237 14q23.2 14q23.2 605716 KCNH5 Potassium voltage-gated channel, subfamily H, member 5 KCNH5 27133 ENSG00000140015 Kcnh5 (MGI:3584508)
chr14 63204383 63293511 14q23.2 14q23.2 607653 RHOJ, ARHJ, TCL Ras homolog gene family, member J RHOJ 57381 ENSG00000126785 Rhoj (MGI:1931551)
chr14 63312834 63318878 14q23.2 14q23.2 609652 GPHB5, GPB5 Glycoprotein hormone, beta-5 GPHB5 122876 ENSG00000179600 Gphb5 (MGI:2156540)
chr14 63371355 63543394 14q23.1 14q23.2 601647 PPP2R5E Protein phosphatase-2, regulatory subunit B (B56), epsilon isoform PPP2R5E 5529 ENSG00000154001 incorrectly assigned to 7p12-p11.2 by FISH Ppp2r5e (MGI:1349473)
chr14 63684215 63728107 14q22.1 14q23.2 612826 SGPP1, SPPASE1 Sphingosine-1-phosphate phosphatase 1 SGPP1 81537 ENSG00000126821 Sgpp1 (MGI:2135760)
chr14 63761903 64226448 14q23 14q23.2 608442 SYNE2, NUANCE, KIAA1011, EDMD5 Spectrin repeat-containing nuclear envelope protein 2 (nesprin 2) SYNE2 23224 ENSG00000054654 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3), Autosomal dominant Syne2 (MGI:2449316)
chr14 64226711 64338630 14q 14q23.2-q23.3 601663 ESR2 Estrogen receptor-2 (ER beta) ESR2 2100 ENSG00000140009 Esr2 (MGI:109392)
chr14 64388040 64460006 14q24 14q23.3 172460 MTHFD1, MTHFC, CIMAH Methylenetetrahydrofolate dehydrogenase 1 MTHFD1 4522 ENSG00000100714 trifunctional protein Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive Mthfd1 (MGI:1342005)
chr14 64449105 64505212 14q23-q24 14q23.3 194541 ZBTB25, ZNF46, KUP Zinc finger and BTB domain containing 25 ZBTB25 7597 ENSG00000089775 Zbtb25 (MGI:99197)
chr14 64465498 64474502 14q23.3 14q23.3 604688 AKAP5, AKAP79 A-kinase anchor protein 5 AKAP5 9495 ENSG00000179841 Akap5 (MGI:2685104)
chr14 64504573 64533689 14q23.3 14q23.3 616578 ZBTB1 Zinc finger- and BTB domain-containing protein 1 ZBTB1 22890 ENSG00000126804 Zbtb1 (MGI:2442326)
chr14 64540467 64543236 14q24.1 14q23.3 140560 HSPA2 Heat-shock 70kD protein-2 HSPA2 3306 ENSG00000126803 Hspa2 (MGI:96243)
chr14 64744105 64879888 14q23.3 14q23.3 182870 SPTB, SPH2, EL3, HS2 Spectrin, beta, erythrocytic SPTB 6710 ENSG00000070182 Anemia, neonatal hemolytic, fatal and near-fatal (3); Elliptocytosis-3 (3); Spherocytosis, type 2, 616649 (3), Autosomal dominant Sptb (MGI:98387)
chr14 64914360 64935367 14q23.3 14q23.3 608577 CHURC1, CHCH, C14orf52 Churchill domain-containing 1 CHURC1 91612 ENSG00000258289 Churc1 (MGI:1923684)
chr14 64939151 64942904 14q24.1 14q23.3 138319 GPX2 Glutathione peroxidase-2, gastrointestinal GPX2 2877 ENSG00000176153 Gpx2 (MGI:106609)
chr14 64986788 65062651 14q23-q24 14q23.3 134636 FNTB Farnesyltransferase, CAAX box, beta FNTB 2342 ENSG00000257365 related FNTBL1 on 9 Fntb (MGI:1861305)
chr14 65006100 65102694 14q23 14q23.3 154950 MAX MAX protein MAX 4149 ENSG00000125952 interacts with MYC {Pheochromocytoma, susceptibility to}, 171300 (3), Autosomal dominant Max (MGI:96921)
chr14 65410591 65744121 14q23 14q23.3 602589 FUT8 Fucosyltransferase 8 FUT8 2530 ENSG00000033170 Fut8 (MGI:1858901)
chr14 66507406 67735830 14q24 14q23.3-q24.1 603930 GPHN, GPH, KIAA1385, GEPH, MOCODC Gephyrin GPHN 10243 ENSG00000171723 Molybdenum cofactor deficiency C, 615501 (3), Autosomal recessive Gphn (MGI:109602)
chr14 67241294 67336060 14q23.3 14q23.3 606958 MPP5, PALS1 Membrane protein, palmitoylated 5 MPP5 64398 ENSG00000072415 Mpp5 (MGI:1927339)
chr14 67337863 67360002 14q24 14q23.3 609398 ATP6V1D, ATP6M ATPase, H+ transporting, lysosomal, 34-kD, V1 subunit D ATP6V1D 51382 ENSG00000100554 Atp6v1d (MGI:1921084)
chr14 67386978 67412199 14q23.3 14q23.3-q24.1 608007 PLEK2 Pleckstrin 2 PLEK2 26499 ENSG00000100558 Plek2 (MGI:1351466)
chr14 67589305 67600301 14q11-q24 14q24.1 600154 PIGH Phosphatidylinositol glycan, class H PIGH 5283 ENSG00000100564 Pigh (MGI:99463)
chr14 67619861 67651719 14q24.1-q24.3 14q24.1 107830 ARG2 Arginase II ARG2 384 ENSG00000081181 Arg2 (MGI:1330806)
chr14 67651148 67674884 14q24.1 14q24.1 603207 VTI1B, VTI1, VTI1L Vti1, S. cerevisiae, homolog of, B VTI1B 10490 ENSG00000100568 Vti1b (MGI:1855688)
chr14 67676799 67695792 14q23.3 14q24.1 607849 RDH11, PSDR1, RALR1, RDJCSS Retinol dehydrogenase 11 RDH11 51109 ENSG00000072042 mutation identified in 1 RDJCSS family ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3), Autosomal recessive Rdh11 (MGI:102581)
chr14 67701885 67734450 14q23.3 14q24.1 608830 RDH12, LCA13 Retinol dehydrogenase 12 RDH12 145226 ENSG00000139988 near RDH11 Leber congenital amaurosis 13, 612712 (3), Autosomal recessive Rdh12 (MGI:1925224)
chr14 67728891 67817292 14q24.1 14q24.1 612012 ZFYVE26, KIAA0321, SPG15 Zinc finger FYVE domain-containing protein 26 ZFYVE26 23503 ENSG00000072121 Spastic paraplegia 15, autosomal recessive, 270700 (3), Autosomal recessive Zfyve26 (MGI:1924767)
chr14 67819778 68683117 14q23.3-q24 14q24.1 602948 RAD51L1 RAD51. S. cerevisiae, homolog of, like 1 RAD51B 5890 ENSG00000182185 fused with HMGA2 in uterine leiomyoma Rad51b (MGI:1099436)
chr14 68787654 68796242 14q22-q24 14q24.1 601064 ZFP36L1, BRF1, ERF1 Zinc finger protein 36, C3H type-like 1 (butyrate response factor 1; EGF-response factor 1) ZFP36L1 677 ENSG00000185650 Zfp36l1 (MGI:107946)
chr14 68874122 68979365 14q24.1 14q24.1 102575 ACTN1, BDPLT15 Actinin, alpha-1 ACTN1 87 ENSG00000072110 Bleeding disorder, platelet-type, 15, 615193 (3), Autosomal dominant Actn1 (MGI:2137706)
chr14 69050919 69153392 14q24.1-q24.2 14q24.1 603812 DCAF5, WDR22, BCRP2, D14S1461E DDB1- and CUL4-associated factor 5 DCAF5 8816 ENSG00000139990 Dcaf5 (MGI:2444785)
chr14 69191476 69244019 14q24.1 14q24.1 616940 EXD2, EXDL2 Exonuclease 3'-to-5' domain-containing protein 2 EXD2 55218 ENSG00000081177 Exd2 (MGI:1922485)
chr14 69259545 69379903 14q24.1 14q24.1 615132 GALNT16, GALNACT16, GALNTL1, KIAA1130 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GALNT16 57452 ENSG00000100626 Galnt16 (MGI:1917754)
chr14 69380122 69398303 14q24.1 14q24.1 601191 ERH Enhancer of rudimentary, Drosophila, homolog of ERH 2079 ENSG00000100632 possible pseudogene on 7q34 Erh (MGI:108089)
chr14 69611592 69715143 14q24.1 14q24.1 616761 SUSD6, DRAGO, KIAA0247 SUSHI domain-containing protein 6 SUSD6 9766 ENSG00000100647 Susd6 (MGI:2444661)
chr14 69767086 69772004 14q24.2 14q24.1 600914 SRSF5, SFRS5, SRp40 Splicing factor, serine/arginine-rich, 5 SRSF5 6430 ENSG00000100650
chr14 69775834 69797288 14q24.1 14q24.1 182396 SLC10A1, NTCP1 Solute carrier family 10 (sodium/bile acid cotransporter family), member 1 SLC10A1 6554 ENSG00000100652 Slc10a1 (MGI:97379)
chr14 69879387 70032365 14q24.1 14q24.2 608488 SMOC1, OAS SPARC-related modular calcium-binding 1 SMOC1 64093 ENSG00000198732 Microphthalmia with limb anomalies, 206920 (3), Autosomal recessive Smoc1 (MGI:1929878)
chr14 70366495 70417089 14q24.2 14q24.2 609411 SYNJ2BP, OMP25, ARIP2 Synaptojanin 2-binding protein SYNJ2BP 55333 ENSG00000213463 Synj2bp (MGI:1344347)
chr14 70452156 70459904 14q24.1 14q24.2 603713 ADAM21 A disintegrin and metalloproteinase domain 21 ADAM21 8747 ENSG00000139985 Adam21 (MGI:1861229)
chr14 70520816 70564741 14q24.1 14q24.2 603712 ADAM20 A disintegrin and metalloproteinase domain 20 ADAM20 8748 ENSG00000134007 Adam20,Adam25,Adam39 (MGI:3045694,MGI:1345157,MGI:2152342)
chr14 70641786 70675359 14q24.2 14q24.2 610488 TTC9, KIAA0227 Tetratricopeptide repeat domain-containing protein 9 TTC9 23508 ENSG00000133985 Ttc9 (MGI:1916730)
chr14 70722525 70809261 14q24.3-q31 14q24.2 600136 MAP3K9, MLK1 Mitogen-activated protein kinase kinase kinase 9 MAP3K9 4293 ENSG00000006432 Map3k9 (MGI:2449952)
chr14 70907404 71115381 14q24.2 14q24.2 617655 PCNX1, KIAA0995 Pecanex, Drosophila, homolog of, 1 PCNX1 22990 ENSG00000100731 Pcnx (MGI:1891924)
chr14 71320417 71741228 14q24.2 14q24.2 617504 SIPA1L1, E6TP1, KIAA0440 SIPA1-like protein 1 SIPA1L1 26037 ENSG00000197555 Sipa1l1 (MGI:2443679)
chr14 71867396 72632477 14q24.3 14q24.2 603894 RGS6 Regulator of G protein signaling 6 RGS6 9628 ENSG00000182732 Rgs6 (MGI:1354730)
chr14 72609031 72894115 14q24.3-q31.1 14q24.2 601672 DPF3, CERD4 D4, zinc and double PHD fingers, family 3 DPF3 8110 ENSG00000205683 Dpf3 (MGI:1917377)
chr14 72926331 72962097 14q24.2 14q24.2 616372 DCAF4, WDR21, WDR21A DDB1- and CUL4-associated factor 4 DCAF4 26094 ENSG00000119599 Dcaf4 (MGI:1921078)
chr14 72969444 73027211 14q22-q24 14q24.2 605471 ZFYVE1, ZNFN2A1, DFCP1, TAFF1 Zinc finger FYVE type-containing protein 1 ZFYVE1 53349 ENSG00000165861 Zfyve1 (MGI:3026685)
chr14 73058512 73121413 14q24.2 14q24.2 612427 RBM25, RED120 RNA-binding motif protein 25 RBM25 58517 ENSG00000119707
chr14 73136434 73223690 14q24.3 14q24.2 104311 PSEN1, AD3, ACNINV3 Presenilin 1 PSEN1 5663 ENSG00000080815 mutation identified in 1 ACNINV3 family ?Acne inversa, familial, 3, 613737 (3), Autosomal dominant; Alzheimer disease, type 3, 607822 (3), Autosomal dominant; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3), Autosomal dominant; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3), Autosomal dominant; Cardiomyopathy, dilated, 1U, 613694 (3), Autosomal dominant; Dementia, frontotemporal, 600274 (3), Autosomal dominant; Pick disease, 172700 (3), Autosomal dominant, Isolated cases Psen1 (MGI:1202717)
chr14 73235840 73274639 14q24.2 14q24.2 617785 PAPLN, PPN Papilin, proteoglycan-like sulfated glycoprotein PAPLN 89932 ENSG00000100767 Papln (MGI:2386139)
chr14 73275209 73458579 14q24.3 14q24.2-q24.3 603728 NUMB, S171 Numb, Drosophila, homolog of NUMB 8650 ENSG00000133961 Numb (MGI:107423)
chr14 73300000 78800000 14q24.3 613085 GLC3C Glaucoma 3, primary congenital, C GLC3C 399565 between D14S61 and D14S1000 Glaucoma 3, primary congenital, C, 613085 (2)
chr14 73300000 89300000 14q24.3-q31 601208 IDDM11 Insulin-dependent diabetes mellitus-11 IDDM11 3410 {Diabetes mellitus, insulin-dependent, 11}, 601208 (2)
chr14 73300000 78800000 14q24.3 614628 KTCN8 Keratoconus 8 100885803 between rs1074501 and rs755212 Keratoconus 8, 614628 (2), Autosomal dominant
chr14 73300000 78800000 14q24.3 612083 MUSTQTL1 Muscle strength quantitative trait locus 1 100192311 Muscle strength quantitative trait locus 1, 612083 (2)
chr14 73490933 73493400 14q24.3 14q24.3 611919 RIOX1, C14orf169, NO66, MAPJD Ribosomal oxygenase 1 RIOX1 79697 ENSG00000170468 Riox1 (MGI:1919202)
chr14 73493020 73543798 14q24.3 14q24.3 614313 ACOT1 Acyl-CoA thioesterase 1 ACOT1 641371 ENSG00000184227 Acot3 (MGI:2159619)
chr14 73567619 73575657 14q24.3 14q24.3 609972 ACOT2, PTE2, MTE1 Acyl-CoA thioesterase 2 ACOT2 10965 ENSG00000119673 Acot2 (MGI:2159605)
chr14 73591705 73595765 14q24.3 14q24.3 614314 ACOT4 Acyl-CoA thioesterase 4 ACOT4 122970 ENSG00000177465 ?pseudogene on 19q13.12 Acot4 (MGI:2159621)
chr14 73612275 73619928 14q24.3 14q24.3 614267 ACOT6 Acyl-CoA thioesterase 6 ACOT6 641372 ENSG00000205669
chr14 73644874 73703727 14q24.3 14q24.3 610062 DNAL1, C14orf168, CILD16 Dynein, axonemal, light chain 1 DNAL1 83544 ENSG00000119661 Ciliary dyskinesia, primary, 16, 614017 (3), Autosomal recessive Dnal1 (MGI:1921462)
chr14 73711782 73714424 14q24.3 14q24.3 604010 PNMA1, MA1 Paraneoplastic MA antigen 1 PNMA1 9240 ENSG00000176903 Pnma1 (MGI:2180564)
chr14 73851830 73885464 14q24 14q24.3 608642 ZADH1 Zinc-binding alcohol dehydrogenase domain-containing protein 1 PTGR2 145482 ENSG00000140043 Ptgr2 (MGI:1916372)
chr14 73949933 73963459 14q24.3 14q24.3 614647 COQ6, CGI10, COQ10D6 Coq6, S. cerevisiae, homolog of COQ6 51004 ENSG00000119723 Coenzyme Q10 deficiency, primary, 6, 614650 (3), Autosomal recessive Coq6 (MGI:1924408)
chr14 73957915 74019331 14q24 14q24.3 603162 ENTPD5, CD39L4 Ectonucleoside triphosphate diphosphohydrolase 5 ENTPD5 957 ENSG00000187097 Entpd5 (MGI:1321385)
chr14 74057661 74084492 14q24.3 14q24.3 603178 ALDH6A1, MMSDH Aldehyde dehydrogenase 6 family, member A1 (methylmalonate semialdehyde dehydrogenase) ALDH6A1 4329 ENSG00000119711 Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3), Autosomal recessive Aldh6a1 (MGI:1915077)
chr14 74239471 74262737 14q24.3 14q24.3 142993 CHX10, HOX10, MCOP2, MCOPCB3 C. elegans ceh-10 homeo domain-containing homolog VSX2 338917 ENSG00000119614 Microphthalmia with coloboma 3, 610092 (3); Microphthalmia, isolated 2, 610093 (3) Vsx2 (MGI:88401)
chr14 74285276 74303063 14q24.3 14q24.3 603214 ABCD4, PXMP1L, P79R, PMP69, MAHCJ ATP-binding cassette, subfamily D, member 4 (peroxisomal membrane protein 1-like) ABCD4 5826 ENSG00000119688 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3), Autosomal recessive Abcd4 (MGI:1349217)
chr14 74405892 74477079 14q24.3 14q24.3 609999 SYNDIG1L, TMEM90A, CAPUCIN Synapse differentiation-induced gene 1-like SYNDIG1L 646658 ENSG00000183379 Syndig1l (MGI:2685107)
chr14 74479939 74493380 14q24.3 14q24.3 601015 NPC2, HE1 Epididymal secretory protein HE1 NPC2 10577 ENSG00000119655 Niemann-pick disease, type C2, 607625 (3), Autosomal recessive Npc2 (MGI:1915213)
chr14 74493719 74495567 14q24.3 14q24.3 615317 ISCA2, MMDS4 Iron-sulfur cluster assembly 2, S. cerevisiae, homolog of ISCA2 122961 ENSG00000165898 Multiple mitochondrial dysfunctions syndrome 4, 616370 (3), Autosomal recessive Isca2 (MGI:1921566)
chr14 74498182 74612592 14q24 14q24.3 602091 LTBP2, LTBP3, GLC3D, MSPKA, WMS3 Latent transforming growth factor beta binding protein-2 LTBP2 4053 ENSG00000119681 mutation identified in 1 WMS3 family Glaucoma 3, primary congenital, D, 613086 (3); Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3), Autosomal recessive; ?Weill-Marchesani syndrome 3, recessive, 614819 (3), Autosomal recessive Ltbp2 (MGI:99502)
chr14 74661251 74713117 14q24.3 14q24.3 615380 AREL1, KIAA0317 Apoptosis-resistant E3 ubiquitin protein ligase 1 AREL1 9870 ENSG00000119682 Arel1 (MGI:1915747)
chr14 74853032 74876662 14q24.3 14q24.3 615094 PROX2 Prospero-related homeobox 2 PROX2 283571 ENSG00000119608 Prox2 (MGI:1920672)
chr14 74881890 74903746 14q24.3 14q24.3 126063 DLST Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) DLST 1743 ENSG00000119689 Dlst (MGI:1926170)
chr14 74941829 74955763 14q24-q31 14q24.3 601121 PGF, PLGF Placental growth factor, vascular endothelial growth factor-related protein PGF 5228 ENSG00000119630 Pgf (MGI:105095)
chr14 75002908 75009590 14q24 14q24.3 606454 EIF2B2 Eukaryotic translation initiation factor 2B, subunit 2 EIF2B2 8892 ENSG00000119718 Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive Eif2b2 (MGI:2145118)
chr14 75013763 75051531 14q24.3 14q24.3 604395 MLH3, HNPCC7 Mismatch repair gene MLH3 MLH3 27030 ENSG00000119684 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3); Colorectal cancer, somatic, 114500 (3); {Endometrial cancer, susceptibility to}, 608089 (3) Mlh3 (MGI:1353455)
chr14 75053220 75069482 14q24.3 14q24.3 600875 ACYP1, ACYPE Acylphosphatase, erythrocyte ACYP1 97 ENSG00000119640 Acyp1 (MGI:1913454)
chr14 75081378 75127636 14q24.3 14q24.3 609798 NEK9, NERCC1, LCCS10, APUG, NC Never in mitosis gene A-related kinase 9 NEK9 91754 ENSG00000119638 mutation identified in 1 APUG family ?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3), Autosomal recessive; Lethal congenital contracture syndrome 10, 617022 (3), Autosomal recessive; Nevus comedonicus, somatic, 617025 (3) Nek9 (MGI:2387995)
chr14 75131467 75176645 14q24.3 14q24.3 605406 TMED10, TMP21 Transmembrane p24 trafficking protein 10 TMED10 10972 ENSG00000170348 Tmed10,Tmed10-ps (MGI:3782198,MGI:1915831)
chr14 75278777 75282233 14q24.3 14q24.3 164810 FOS FBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS) FOS 2353 ENSG00000170345 Fos (MGI:95574)
chr14 75426691 75472700 14q24.3 14q24.3 608657 JDP2 JUN dimerization protein 2 JDP2 122953 ENSG00000140044 Jdp2 (MGI:1932093)
chr14 75522440 75546991 14q24 14q24.3 612476 BATF, BATF1, SFA2 Basic leucine zipper transcription factor, ATF-like BATF 10538 ENSG00000156127 Batf (MGI:1859147)
chr14 75578596 75648168 14q24.3 14q24.3 610865 FLVCR2, C14orf58, CCT, PVHH, EPV Feline leukemia virus subgroup C receptor 2 FLVCR2 55640 ENSG00000119686 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3), Autosomal recessive Flvcr2 (MGI:2384974)
chr14 75650889 75661194 14q24 14q24.3 604576 ERG28, C14orf1 Ergosterol biosynthesis 28 homolog ERG28 11161 ENSG00000133935 Erg28 (MGI:1915571)
chr14 75661207 75955081 14q24.3 14q24.3 612268 TTLL5, STAMP, KIAA0998, CORD19 Tubulin tyrosine ligase-like family, member 5 TTLL5 23093 ENSG00000119685 Cone-rod dystrophy 19, 615860 (3), Autosomal recessive Ttll5 (MGI:2443657)
chr14 75958060 75983010 14q24 14q24.3 190230 TGFB3, ARVD1, RNHF, LDS5 Transforming growth factor, beta-3 TGFB3 7043 ENSG00000119699 Arrhythmogenic right ventricular dysplasia 1, 107970 (3), Autosomal dominant; Loeys-Dietz syndrome 5, 615582 (3), Autosomal dominant Tgfb3 (MGI:98727)
chr14 75985752 76084072 14q24.3 14q24.3 614068 IFT43, C14orf179, CED3, SRTD18, RP81 Intraflagellar transport 43, Chlamydomonas, homolog of IFT43 112752 ENSG00000119650 mutation identified in 1 CED3 family and 1 RP81 family ?Cranioectodermal dysplasia 3, 614099 (3), Autosomal recessive; ?Retinitis pigmentosa 81, 617871 (3), Autosomal recessive; Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3), Autosomal recessive Ift43 (MGI:1923661)
chr14 76371346 76501838 14q24.3 14q24.3 602167 ESRRB, ESRL2, DFNB35 Estrogen-related receptor beta ESRRB 2103 ENSG00000119715 Deafness, autosomal recessive 35, 608565 (3), Autosomal recessive Esrrb (MGI:1346832)
chr14 77024542 77028698 14q24.3 14q24.3 611720 IRF2BPL, C14orf4, EAP1 Interferon regulatory factor 2-binding protein like IRF2BPL 64207 ENSG00000119669 Irf2bpl (MGI:2442463)
chr14 77098234 77117286 14q24.3 14q24.3 616995 CIPC, KIAA1737 Clock-interacting pacemaker CIPC 85457 ENSG00000198894 Cipc (MGI:1919185)
chr14 77265490 77271311 14q24 14q24.3 605304 NGB Neuroglobin NGB 58157 ENSG00000165553 Ngb (MGI:2151886)
chr14 77274955 77320884 14q24.3 14q24.3 607439 POMT2, MDDGA2, MDDGB2, MDDGC2 Putative protein O-mannosyltransferase 2 POMT2 29954 ENSG00000009830 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3), Autosomal recessive Pomt2 (MGI:2444430)
chr14 77320886 77331596 14q24.3 14q24.3 603758 GSTZ1, MAAI, MAAID Glutathione S-transferase, zeta-1 (maleylacetoacetate isomerase) GSTZ1 2954 ENSG00000100577 [Maleylacetoacetate isomerase deficiency], 617596 (3), Autosomal recessive Gstz1 (MGI:1341859)
chr14 77426674 77457726 14q24.3 14q24.3 613401 VIPAS39, VIPAR, SPE39, C14orf133 VPS33B-interacting protein, apical-basolateral polarity regulator, spe-39 homolog VIPAS39 63894 ENSG00000151445 Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3), Autosomal recessive Vipas39 (MGI:2144805)
chr14 77457876 77469471 14q24.3 14q24.3 608466 AHSA1, AHA1 Activator of heat-shock 90kD protein ATPase 1 AHSA1 10598 ENSG00000100591 Ahsa1 (MGI:2387603)
chr14 77474393 77498866 14q24.3 14q24.3 612684 ISM2, THSD3, TAIL1 Isthmin 2, zebrafish, homolog of ISM2 145501 ENSG00000100593
chr14 77505996 77616766 14q24.3-q31 14q24.3 605713 SPTLC2, KIAA0526, SPT2, LCB2, HSN1C, NSAN1C Serine palmitoyltransferase, long-chain base subunit 2 SPTLC2 9517 ENSG00000100596 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3), Autosomal dominant Sptlc2 (MGI:108074)
chr14 77672403 77708037 14q24 14q24.3 605345 ALKBH1, ALKB AlkB, E. coli, homolog of, 1 ALKBH1 8846 ENSG00000100601 Alkbh1 (MGI:2384034)
chr14 77708070 77717597 14q24.3 14q24.3 610211 SLIRP, C14orf156 SRA stem loop-interacting RNA-binding protein SLIRP 81892 ENSG00000119705 Slirp (MGI:1916394)
chr14 77717598 77761155 14q24.3 14q24.3 603055 SKIIP, SKIP, SNW1, BX42 SKI-interacting protein SNW1 22938 ENSG00000100603 Snw1 (MGI:1913604)
chr14 77979903 79868289 14q24.3-q31.1 14q24.3-q31.1 600567 NRXN3 Neurexin 3 NRXN3 9369 ENSG00000021645
chr14 78800000 89300000 14q31 275000 GRD1 Graves disease, susceptibility to, 1 100312954 associated with rs2268458 {Graves disease, susceptibility to, 1}, 275000 (2), Autosomal recessive
chr14 78800000 89300000 14q31 614187 HPPD Hypertelorism, preauricular sinus, punctal pits, and deafness 100682260 Hypertelorism, preauricular sinus, punctal pits, and deafness, 614187 (2), Autosomal dominant
chr14 80197524 80231053 14q24.3 14q31.1 601413 DIO2, TXDI2, D2 Deiodinase, iodothyronine, type II DIO2 1734 ENSG00000211448 Dio2 (MGI:1338833)
chr14 80954988 81146301 14q31 14q31.1 603372 TSHR, CHNG1 Thyroid-stimulating hormone receptor TSHR 7253 ENSG00000165409 Hyperthyroidism, familial gestational, 603373 (3); Hyperthyroidism, nonautoimmune, 609152 (3), Autosomal dominant, Isolated cases; Hypothyroidism, congenital, nongoitrous, 1, 275200 (3), Autosomal recessive; Thyroid adenoma, hyperfunctioning, somatic (3); Thyroid carcinoma with thyrotoxicosis (3) Tshr (MGI:98849)
chr14 81175451 81221230 14q31.1 14q31.1 600520 GTF2A1, TF2A1 General transcription factor IIA, alpha/beta subunits GTF2A1 2957 ENSG00000165417 Gtf2a1 (MGI:1933277)
chr14 81260649 81436463 14q13.1 14q31.1 608467 STON2, STN2, STNB Stonin 2 STON2 85439 ENSG00000140022 Ston2 (MGI:1918272)
chr14 81471546 81533860 14q31 14q31.1 602329 SEL1L Suppressor of lin 12 (sel-1), C. elegans, homolog of SEL1L 6400 ENSG00000071537 Sel1l (MGI:1329016)
chr14 85527371 85628695 14q24-q32 14q31.3 604807 FLRT2 Fibronectin-like domain-containing leucine-rich transmembrane protein-2 FLRT2 23768 ENSG00000185070 Flrt2 (MGI:3603594)
chr14 87933013 87993664 14q31 14q31.3 606890 GALC Galactosylceramidase GALC 2581 ENSG00000054983 Krabbe disease, 245200 (3), Autosomal recessive Galc (MGI:95636)
chr14 88005123 88014810 14q31-q32.1 14q31.3 604620 GPR65, TDAG8 G protein-coupled receptor 65 GPR65 8477 ENSG00000140030 Gpr65 (MGI:108031)
chr14 88180107 88326911 14q31 14q31.3 605873 KCNK10, TREK2 Potassium channel, subfamily K, member 10 KCNK10 54207 ENSG00000100433 Kcnk10 (MGI:1919508)
chr14 88385637 88470349 14q31.3 14q31.3 609868 SPATA7, HSD3, LCA3 Spermatogenesis-associated protein 7 SPATA7 55812 ENSG00000042317 Leber congenital amaurosis 3, 604232 (3); Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3) Spata7 (MGI:2144877)
chr14 88465777 88554778 14q31.3 14q31.3 603271 PTPN21, PTPD1 Protein-tyrosine phosphatase, nonreceptor-type, 21 PTPN21 11099 ENSG00000070778 Ptpn21 (MGI:1344406)
chr14 88562908 88613508 14q31.3 14q31.3 613279 ZC3H14, SUT2, MRT56 Zinc finger CCCH domain-containing protein 14 ZC3H14 79882 ENSG00000100722 Mental retardation, autosomal recessive 56, 617125 (3), Autosomal recessive Zc3h14 (MGI:1919824)
chr14 88824152 88877995 14q32.1 14q31.3 608132 TTC8, BBS8, RP51 Tetratricopeptide repeat domain 8 TTC8 123016 ENSG00000165533 mutation identified in 1 RP51 family Bardet-Biedl syndrome 8, 615985 (3), Autosomal recessive; ?Retinitis pigmentosa 51, 613464 (3), Autosomal recessive Ttc8 (MGI:1923510)
chr14 89156171 89619149 14q24.3-q31 14q31.3-q32.1 602628 FOXN3, CHES1 Forkhead box N3 FOXN3 1112 ENSG00000053254
chr14 89300000 107043718 14q32 608318 CHDS4 Coronary heart disease, susceptibility to, 4 387585 highest LOD with D14S1426 {Coronary heart disease, susceptibility to, 4}, 608318 (2)
chr14 89300000 107043718 14q32 123270 CKBE Creatine kinase, ectopic expression CKBE 1156 linked to IGH, PI; ?same locus as CKBB [Creatine kinase, brain type, ectopic expression of], 123270 (2)
chr14 89300000 107043718 14q32 616604 DUP14q32, C14DUPq32 Chromosome 14q32 duplication syndrome, 700kB heterozygous germline duplication of 700kb {Myeloproliferative neoplasms, familial, susceptibility to}, 616604 (4), Autosomal dominant
chr14 89300000 107043718 14q32 608875 GEVQ1 Gene expression, variation in, quantitative trait locus on chromosome 14 474334 {Gene expression, variation in, QTL}, 608875 (2)
chr14 89300000 107043718 14q32 164210 HFM Hemifacial microsomia 170474 Hemifacial microsomia, 164210 (2), Autosomal dominant
chr14 89300000 107043718 14q32 608149 KAOGS Kagami-Ogata syndrome uniparental isodisomy of imprinted region of chromosome 14 Kagami-Ogata syndrome, 608149 (4), Isolated cases
chr14 89300000 107043718 14q32 251600 MCOP1 Microphthalmia, isolated 1 8113 Microphthalmia, isolated 1, 251600 (2), Autosomal recessive
chr14 89300000 95800000 14q32.1 107410 SERPINA2P, PIL, ATR, ARGS Serpin peptidase inhibitor, clade A, member 2, pseudogene SERPINA2 390502 ENSG00000258597 ?pseudogene
chr14 89300000 107043718 14q32 616222 TEMPS Temple syndrome (maternal uniparental disomy chromosome 14) Temple syndrome, 616222 (4), Isolated cases
chr14 89954922 90044767 14q31-q32 14q32.11 607198 TDP1 Tyrosyl-DNA phosphodiesterase 1 TDP1 55775 ENSG00000042088 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3) Tdp1 (MGI:1920036)
chr14 90061764 90185856 14q24.1-q24.3 14q32.11 607367 KCNK13, THIK1 Potassium channel, subfamily K, member 13 KCNK13 56659 ENSG00000152315 Kcnk13 (MGI:2384976)
chr14 90256549 90272624 14q32.11 14q32.11 602706 PSMC1, S4 Proteasome 26S subunit, ATPase, 1 PSMC1 5700 ENSG00000100764 previously assigned to 19p13.3 by FISH Psmc1 (MGI:106054)
chr14 90396982 90408274 14q24-q31 14q32.11 114180 CALM1, PHKD, CPVT4, LQT14 Calmodulin-1 (phosphorylase kinase, delta) CALM1 801 ENSG00000198668 Long QT syndrome 14, 616247 (3), Autosomal dominant; Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3), Autosomal dominant
chr14 90868121 91060648 14q31-q32 14q32.11 603607 RPS6KA5, MSK1 Ribosomal protein S6 kinase, 90kD, 5 RPS6KA5 9252 ENSG00000100784 Rps6ka5 (MGI:1920336)
chr14 91232531 91264580 14q31 14q32.11 601404 GPR68, OGR1, AI2A6 G protein-coupled receptor 68 GPR68 8111 ENSG00000119714 Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (3), Autosomal recessive Gpr68 (MGI:2441763)
chr14 91271322 91417843 14q32.11 14q32.11-q32.12 611204 CCDC88C, HKRP2, DAPLE, KIAA1509, HYC, SCA40 Coiled-coil domain-containing protein 88C CCDC88C 440193 ENSG00000015133 mutation identified in 1 SCA40 family Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3), Autosomal recessive; ?Spinocerebellar ataxia 40, 616053 (3), Autosomal dominant Ccdc88c (MGI:1915589)
chr14 91457480 91510553 14q32.12 14q32.12 610351 PPP4R3A, SMEK1, PP4R3A, KIAA2010 Protein phosphatase 4, regulatory subunit 3, alpha PPP4R3A 55671 ENSG00000100796 Ppp4r3a (MGI:1915984)
chr14 91580773 91732085 14q32.12 14q32.12 611169 CATSPERB, C14orf161 Cation channel, sperm-associated, beta CATSPERB 79820 ENSG00000133962 Catsperb (MGI:2443988)
chr14 91869410 91947701 14q32.1 14q32.12 604580 FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD Fibulin 5 FBLN5 10516 ENSG00000140092 Cutis laxa, autosomal dominant 2, 614434 (3); Cutis laxa, autosomal recessive, type IA, 219100 (3), Autosomal recessive; Macular degeneration, age-related, 3, 608895 (3), Autosomal dominant; Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3), Autosomal dominant Fbln5 (MGI:1346091)
chr14 91965990 92040133 14q31-q32 14q32.12 604505 TRIP11, TRIP230, CEV14, ACG1A Thyroid hormone receptor interactor 11 TRIP11 9321 ENSG00000100815 Achondrogenesis, type IA, 200600 (3), Autosomal recessive Trip11 (MGI:1924393)
chr14 92058551 92106620 14q32.12 14q32.12 607047 ATXN3, MJD, SCA3 Ataxin-3 (josephin) ATXN3 4287 ENSG00000066427 Machado-Joseph disease, 109150 (3), Autosomal dominant Atxn3 (MGI:1099442)
chr14 92116122 92121808 14q32.12 14q32.12 603837 NDUFB1 NADH-ubiquinone oxidoreductase 1 beta subcomplex, 1 NDUFB1 4707 ENSG00000183648 Ndufb1-ps (MGI:3780865)
chr14 92322580 92501480 14q32 14q32.12 609840 SLC24A4, NCKX4, SHEP6, AI2A5 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 SLC24A4 123041 ENSG00000140090 Amelogenesis imperfecta, type IIA5, 615887 (3), Autosomal recessive; [Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3), Autosomal recessive; [Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3), Autosomal recessive Slc24a4 (MGI:2447362)
chr14 92703806 92748701 14q32.1 14q32.12 602620 LGMN, PRSC1 Legumain (protease, cysteine, 1) LGMN 5641 ENSG00000100600 Lgmn (MGI:1330838)
chr14 92794230 92839962 14q 14q32.12 606918 GOLGA5, RFG5 Golgi autoantigen, golgin subfamily A, 5 GOLGA5 9950 ENSG00000066455 fused with RET to form PTC5 Golga5 (MGI:1351475)
chr14 92922593 92935292 14q32 14q32.12 118910 CHGA Chromogranin A, parathyroid secretory protein-1 CHGA 1113 ENSG00000100604 Chga (MGI:88394)
chr14 92936913 93115918 14q32.12 14q32.12 601838 ITPK1, ITRPK1 Inositol 1,3,4-trisphosphate 5/6-kinase ITPK1 3705 ENSG00000100605 Itpk1 (MGI:2446159)
chr14 93182195 93184903 14q32.12 14q32.12 609485 MOAP1, MAP1, PNMA4 Modulator of apoptosis 1 MOAP1 64112 ENSG00000165943 Moap1 (MGI:1915555)
chr14 93202891 93207113 14q32.12 14q32.12 617436 GON7, C14orf142 Gon7, S. cerevisiae, homolog of GON7 84520 ENSG00000170270 Gon7 (MGI:4845848)
chr14 93207055 93229214 14q32.12 14q32.12 613816 UBR7 Ubiquitin protein ligase E3 component N-recognin 7 UBR7 55148 ENSG00000012963 Ubr7 (MGI:1913872)
chr14 93237549 93333091 14q32.1 14q32.12 610386 BTBD7, FUP1 BTB/POX domain-containing protein 7 BTBD7 55727 ENSG00000011114 Btbd7 (MGI:1917858)
chr14 93333218 93710472 14q32.12 14q32.12 616884 UNC79 Unc79, C. elegans, homolog of UNC79 57578 ENSG00000133958 Unc79 (MGI:2684729)
chr14 93347190 93348353 14q32.12 14q32.12 616855 COX8C Cytochrome c oxidase, subunit 8c COX8C 341947 ENSG00000187581
chr14 93718297 93789028 14q32.12 14q32.12 613851 PRIMA1, PRIMA Proline-rich membrane anchor 1 PRIMA1 145270 ENSG00000175785 Prima1 (MGI:1926097)
chr14 93934152 93976738 14q32.12 14q32.12 605759 ASB2 Ankyrin repeat-containing SOCS box protein 2 ASB2 51676 ENSG00000100628 Asb2 (MGI:1929743)
chr14 94015599 94048929 14q32.12 14q32.12 608338 OTUB2, OTU2, OTB2, C14orf137 OTU domain-containing ubiquitin aldehyde-binding protein 2 OTUB2 78990 ENSG00000089723 Otub2 (MGI:1915399)
chr14 94050921 94081211 14q32 14q32.12 606181 DDX24 DEAD/H box 24 DDX24 57062 ENSG00000089737 Ddx24 (MGI:1351337)
chr14 94110732 94116698 14q32 14q32.12 600009 IFI27 Interferon, alpha-inducible protein-27 IFI27 3429 ENSG00000165949
chr14 94127780 94129619 14q32.12 14q32.12 611319 IFI27L2, FAM14A, ISG12B Interferon alpha inducible protein 27 like 2 IFI27L2 83982 ENSG00000119632
chr14 94174311 94279734 14q32.13 14q32.12-q32.13 616790 PPP4R4, PP4R4, KIAA1622 Protein phosphatase 4, regulatory subunit 4 PPP4R4 57718 ENSG00000119698 Ppp4r4 (MGI:1921771)
chr14 94280459 94293352 14q32.1 14q32.13 605271 SERPINA10, ZPI Serine (or cysteine) proteinase inhibitor, clade A, member 10 (protein Z-dependent protease inhibitor precursor) SERPINA10 51156 ENSG00000140093 Serpina10 (MGI:2667725)
chr14 94304247 94323350 14q32.1 14q32.13 122500 CBG, SERPINA6 Corticosteroid-binding globulin SERPINA6 866 ENSG00000170099 Corticosteroid-binding globulin deficiency, 611489 (3), Autosomal recessive, Autosomal dominant Serpina6 (MGI:88278)
chr14 94376746 94390691 14q32.1 14q32.13 107400 SERPINA1, PI, AAT Alpha-1-antitrypsin (serpin peptidase inhibitor, clade A, member 1) SERPINA1 5265 ENSG00000197249 Emphysema due to AAT deficiency, 613490 (3), Autosomal recessive; Emphysema-cirrhosis, due to AAT deficiency, 613490 (3), Autosomal recessive; Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3), Autosomal recessive; {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1) Serpina1e,Serpina1c,Serpina1d,Serpina1a,Serpina1b (MGI:891971,MGI:891970,MGI:891968,MGI:891969,MGI:891967)
chr14 94462720 94476332 14q32 14q32.13 615677 SERPINA9, GCET1, CENTERIN Serpin peptidase inhibitor, clade A, member 9 SERPINA9 327657 ENSG00000170054 Serpina9 (MGI:1919157)
chr14 94481650 94517843 14q32.1 14q32.13 617471 SERPINA12, VASPIN Serpin peptidase inhibitor, clade A, member 12 (vaspin) SERPINA12 145264 ENSG00000165953 Serpina12 (MGI:1915304)
chr14 94561419 94569912 14q31-q32.1 14q32.13 147935 SERPINA4, KST, PI4 Serpin peptidase inhibitor, clade A, member 4 SERPINA4 5267 ENSG00000100665 in cluster with related AAT, AACT, CBG, PCI
chr14 94581368 94593119 14q32.1 14q32.13 601841 SERPNA5, PCI Serpin peptidase inhibitor, clade A, member 5 (protein C inhibitor) SERPINA5 5104 ENSG00000188488 Serpina5 (MGI:107817)
chr14 94612376 94624052 14q32.1 14q32.13 107280 SERPINA3, AACT, ACT Alpha-1-antichymotrypsin SERPINA3 12 ENSG00000196136 220kb from PI Alpha-1-antichymotrypsin deficiency (3); Cerebrovascular disease, occlusive (3) Serpina3m,Serpina3n,Serpina3k,Serpina3c (MGI:98378,MGI:105045,MGI:102848,MGI:98377)
chr14 94768222 94770161 14q32.1 14q32.13 138890 GSC, SAMS Goosecoid GSC 145258 ENSG00000133937 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3), Autosomal recessive Gsc (MGI:95841)
chr14 95086227 95158262 14q31 14q32.13 606241 DICER1, HERNA, KIAA0928, MNG1, RMSE2 Dicer, Drosophila, homolog of, 1 DICER1 23405 ENSG00000100697 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3), Autosomal dominant; Pleuropulmonary blastoma, 601200 (3), Autosomal dominant; Rhabdomyosarcoma, embryonal, 2, 180295 (3) Dicer1 (MGI:2177178)
chr14 95181938 95319907 14q32.13 14q32.13 611121 CLMN, KIAA1188 Calmin CLMN 79789 ENSG00000165959 Clmn (MGI:2136957)
chr14 95407265 95516692 14q32.13 14q32.13 610861 SYNE3, C14orf49 Spectrin repeat-containing nuclear envelope protein 3 (nesprin 3) SYNE3 161176 ENSG00000176438 Syne3 (MGI:2442408)
chr14 95534985 95544717 14q32 14q32.13 609588 GLRX5, C14orf87, PRO1238, FLB4739, PRSA, SIDBA3, SPAHGC Glutaredoxin 5 GLRX5 51218 ENSG00000182512 Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3), Autosomal recessive; Spasticity, childhood-onset, with hyperglycinemia, 616859 (3), Autosomal recessive Glrx5 (MGI:1920296)
chr14 95652096 95673451 14q32.1 14q32.13 604412 TCL6, TNG1, TNG2 T-cell leukemia/lymphoma 6 TCL6 27004
chr14 95686416 95692642 14q32.1 14q32.13 603769 TCL1B, TML1 T-cell lymphoma/leukemia 1B TCL1B 9623 ENSG00000213231 Leukemia/lymphoma, T-cell, 603769 (2)
chr14 95694159 95714195 14q32.1 14q32.13 186960 TCL1A, TCL1 T-cell lymphoma/leukemia 1A TCL1A 8115 ENSG00000100721 Leukemia/lymphoma, T-cell, 186960 (2) Tcl1 (MGI:1097166)
chr14 95876391 95925570 14q32 14q32.2 615719 TUNAR, TUNA, LINC00617 TCL1 upstream neural differentiation-associated RNA TUNAR 100507043
chr14 96204797 96244328 14q32.1-q32.2 14q32.2 113503 BDKRB2 Bradykinin receptor B2 BDKRB2 624 ENSG00000168398 Bdkrb2 (MGI:102845)
chr14 96256209 96264762 14q32.1-q32.2 14q32.2 600337 BDKRB1 Bradykinin receptor B1 BDKRB1 623 ENSG00000100739 Bdkrb1 (MGI:88144)
chr14 96279201 96363400 14q32.2 14q32.2 616226 ATG2B Autophagy 2, S. cerevisiae, homolog of, B ATG2B 55102 ENSG00000066739 Atg2b (MGI:1923809)
chr14 96363451 96387289 14q32.2 14q32.2 616605 GSKIP, C14orf129 GSK3B-interacting protein GSKIP 51527 ENSG00000100744 Gskip (MGI:1914037)
chr14 96392087 96489426 14q32.2 14q32.2 615364 AK7 Adenylate kinase 7 AK7 122481 ENSG00000140057 Ak7 (MGI:1926051)
chr14 96502375 96567115 14q32.1-q32.2 14q32.2 605553 PAPOLA, PAP Poly(A) polymerase PAPOLA 10914 ENSG00000090060 Papola (MGI:109301)
chr14 96797346 96881613 14q32 14q32.2 602168 VRK1, PCH1A Vaccinia-related kinase-1 VRK1 7443 ENSG00000100749 Pontocerebellar hypoplasia type 1A, 607596 (3), Autosomal recessive Vrk1 (MGI:1261847)
chr14 99169286 99271712 14q32.1 14q32.2 606558 BCL11B, CTIP2, IMD49 C-cell CLL/lymphoma 11B BCL11B 64919 ENSG00000127152 mutation identified in 1 IMD49 patient ?Immunodeficiency 49, 617237 (3), Autosomal dominant Bcl11b (MGI:1929913)
chr14 99397745 99486457 14q32.2 14q32.2 615671 SETD3 SET domain-containing protein 3 SETD3 84193 ENSG00000183576 Setd3 (MGI:1289184)
chr14 99481401 99511514 14q32 14q32.2 603544 CCNK Cyclin K CCNK 8812 ENSG00000090061 Ccnk (MGI:1276106)
chr14 99684261 99727320 14q32.1 14q32.2 604087 CYP46A1, CYP46 Cytochrome P450, family 46, subfamily A, polypeptide 1 (cholesterol 24-hydroxylase) CYP46A1 10858 ENSG00000036530 Cyp46a1 (MGI:1341877)
chr14 99737698 99942059 14q32 14q32.2 602033 EML1, EMAPL, EMAP, BH Echinoderm microtubule associated protein like 1 EML1 2009 ENSG00000066629 Band heterotopia, 600348 (3), Autosomal recessive Eml1 (MGI:1915769)
chr14 99971453 100144235 14q32.2 14q32.2 616912 EVL ENAH/VASP-like protein EVL 51466 ENSG00000196405 Evl (MGI:1194884)
chr14 100146415 100166885 14q32.2 14q32.2 610862 DEGS2, DES2 Delta(4)-desaturase, sphingolipid, 2 DEGS2 123099 ENSG00000168350 Degs2 (MGI:1917309)
chr14 100238764 100279033 14q 14q32.2 600013 YY1, GADEVS YY1 transcription factor YY1 7528 ENSG00000100811 Gabriele-de Vries syndrome, 617557 (3), Autosomal dominant Yy1 (MGI:99150)
chr14 100277985 100306546 14q32 14q32.2 615064 SLC25A29, CACL, ORNT3 Solute carrier family 25 (carnitine/acylcarnitine translocase), member 29 SLC25A29 123096 ENSG00000197119 Slc25a29 (MGI:2444911)
chr14 100323336 100330420 14q32.31 14q32.2 609911 HDMCP, C14orf68 Hepatocellular carcinoma-downregulated mitochondrial carrier protein SLC25A47 283600 ENSG00000140107 Slc25a47 (MGI:2144766)
chr14 100333787 100376342 14q32.31 14q32.2 191050 WARS, HMN9 Tryptophanyl-tRNA synthetase WARS 7453 ENSG00000140105 Neuronopathy, distal hereditary motor, type IX, 617721 (3) Wars (MGI:104630)
chr14 100726864 100738223 14q32 14q32.2 176290 DLK1, PREF1, FA1 Delta, Drosophila, homolog-like 1 DLK1 8788 ENSG00000185559 Dlk1 (MGI:94900)
chr14 100826107 100861025 14q32.3 14q32.2 605636 MEG3, GTL2 Maternally expressed gene 3 MEG3 55384 100kb from DLK1
chr14 100880654 100884846 14q32.2 14q32.2 611896 RTL1, PEG11 Retrotransposon-like gene 1 RTL1 388015 ENSG00000254656 Rtl1 (MGI:2656842)
chr14 100881006 100881119 14q32.31 14q32.2 611708 MIR431, MIRN431 Micro RNA 431 MIR431 574038
chr14 100881885 100881977 14q32.31 14q32.2 611711 MIR433, MIRN433 Micro RNA 433 MIR433 574034
chr14 100882978 100883074 14q32.31 14q32.2 611709 MIR127, MIRN127 Micro RNA 127 MIR127 406914
chr14 100884701 100884782 14q32.31 14q32.2 611710 MIR136, MIRN136 Micro RNA 136 MIR136 406927
chr14 100889648 100999112 14q32 14q32.2-q32.3 613648 MEG8 Maternally expressed gene 8 MEG8 79104
chr14 100897919 100897995 14q32 14q32.2 613649 SNORD112 Small nucleolar, C/D box, 112 SNORD112 692215 located in an intron of MEG8
chr14 100911138 100911212 14q32.31 14q32.31 612553 MIR370, MIRN370 Micro RNA 370 MIR370 442915
chr14 100924820 100924889 14q32 14q32.31 613650 SNORD113-1 Small nucleolar RNA, C/D box, 113-1 SNORD113-1 767561
chr14 100949832 100949902 14q32 14q32.31 613651 SNORD114-1 Small nucleolar RNA, C/D box, 114-1 SNORD114-1 767577
chr14 101022065 101022131 14q32.31 14q32.31 616358 MIR379 Micro RNA 379 MIR379 494328
chr14 101025016 101025076 14q32 14q32.31 613654 MIR380, MIRN380 Micro RNA 380 MIR380 494329
chr14 101029633 101029713 14q32.31 14q32.31 616036 MIR494 Micro RNA 494 MIR494 574452
chr14 101033754 101033835 14q32.31 14q32.31 615149 MIR551A Micro RNA 495 MIR495 574453
chr14 101039689 101039754 14q32.31 14q32.31 610983 MIR376C, MIR368 Micro RNA 368C MIR376C 442913
chr14 101040068 101040147 14q32.31 14q32.31 610960 MIR376A-2, MIRN376A-2 Micro RNA 376A-2 MIR376A2 664615
chr14 101040435 101040534 14q32.31 14q32.31 610961 MIR376B, MIRN376B Micro RNA 376b MIR376B 574435
chr14 101040781 101040848 14q32.31 14q32.31 610959 MIR376A-1, MIRN376A-1 Micro RNA 376A-1 MIR376A1 494325
chr14 101046454 101046537 14q32.31 14q32.31 615037 MIR487B Micro RNA 487B MIR487B 664616
chr14 101054686 101054758 14q32.31 14q32.31 610164 MIR134 Micro RNA 134 MIR134 406924
chr14 101055418 101055490 14q32.31 14q32.31 615385 MIR485 Micro RNA 485 MIR485 574436
chr14 101065299 101065377 14q32.31 14q32.31 614057 MIR409, MIRN409 Micro RNA 409 MIR409 574413
chr14 101065597 101065666 14q32.31 14q32.31 611794 MIR369, MIR369-3, MIRN369-3 Micro RNA 369 MIR369 442914
chr14 101065911 101065990 14q32.31 14q32.31 615036 MIR410 Micro RNA 410 MIR410 574434
chr14 101066723 101066800 14q32.31 14q32.31 616376 MIR656 Micro RNA 656 MIR656 724026
chr14 101552220 101560421 14q32 14q32.31 608523 DIO3OS Deiodinase, iodothyronine, type 3, opposite strand DIO3OS 64150
chr14 101561350 101563451 14q32 14q32.31 601038 DIO3, TXDI3 Deiodinase, iodothyronine, type 3 DIO3 1735 ENSG00000197406 Dio3 (MGI:1306782)
chr14 101760572 101927991 14q32.31 14q32.31 601645 PPP2R5C Protein phosphatase-2, regulatory subunit B (B56), gamma isoform PPP2R5C 5527 ENSG00000078304 pseudogene on 3p21
chr14 101964527 102050797 14q32 14q32.31 600112 DYNC1H1, DNCL, DNECL, CMT20, MRD13, SMALED1 Dynein, cytoplasmic-1, heavy chain-1 DYNC1H1 1778 ENSG00000197102 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3), Autosomal dominant; Mental retardation, autosomal dominant 13, 614563 (3), Autosomal dominant; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3), Autosomal dominant Dync1h1 (MGI:103147)
chr14 102080737 102139748 14q32.2 14q32.31 140571 HSP90AA1, HSPCA, HSPC1, HSP90A, HSP89A, HSPCAL4, LAP2 Heat-shock protein, 90kD, alpha, class A, member 1 HSP90AA1 3320 ENSG00000080824 Hsp90aa1 (MGI:96250)
chr14 102139365 102224685 14q32.31 14q32.31 617741 WDR20 WD repeat-containing protein 20 WDR20 91833 ENSG00000140153 Wdr20 (MGI:1916891)
chr14 102224449 102305199 14q32 14q32.31 605762 RAGE, MOK Renal tumor antigen MOK 5891 ENSG00000080823 Mok (MGI:1336881)
chr14 102348281 102362915 14q32.31 14q32.31 613362 CINP CDK2-interacting protein CINP 51550 ENSG00000100865 Cinp (MGI:1914486)
chr14 102362911 102502480 14q32.31 14q32.31 615000 TECPR2, KIAA0329, SPG49 Tectonin beta-propeller repeat-containing protein 2 TECPR2 9895 ENSG00000196663 Spastic paraplegia 49, autosomal recessive, 615031 (3), Autosomal recessive Tecpr2 (MGI:2144865)
chr14 102592592 102730575 Chr.14 14q32.31-q32.32 607675 RCOR, COREST, KIAA0071 REST corepressor RCOR1 23186 ENSG00000089902 Rcor1 (MGI:106340)
chr14 102777478 102911499 14q32.32 14q32.32 601896 TRAF3, CD40BP, LAP1, CAP1, CRAF1, IIAE5 TNF receptor-associated factor 3 TRAF3 7187 ENSG00000131323 mutation identified in 1 IIAE5 patient {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3) Traf3 (MGI:108041)
chr14 102922429 102933596 14q32 14q32.32 605799 AMN Amnionless, mouse, homolog of AMN 81693 ENSG00000166126 Megaloblastic anemia-1, Norwegian type, 261100 (3), Autosomal recessive Amn (MGI:1934943)
chr14 102932378 103057404 14q32.3 14q32.32 614062 CDC42BPB, MRCKB CDC42-binding protein kinase, beta CDC42BPB 9578 ENSG00000198752 Cdc42bpb (MGI:2136459)
chr14 103121174 103137438 14q32 14q32.32 603300 TNFAIP2 Tumor necrosis factor, alpha-induced protein-2 TNFAIP2 7127 ENSG00000185215 Tnfaip2 (MGI:104960)
chr14 103334001 103345024 14q32.3 14q32.32 601710 EIF5 Eukaryotic translation initiation factor 5 EIF5 1983 ENSG00000100664 Eif5 (MGI:95309)
chr14 103385363 103503830 14q32.3 14q32.32-q32.33 602678 MARK3 MAP/microtubule affinity-regulating kinase-3 MARK3 4140 ENSG00000075413 Mark3 (MGI:1341865)
chr14 103500000 107043718 14q32.33 144120 IGHR Immunoglobulin heavy chain regulator ?Hyperimmunoglobulin G1 syndrome, 144120 (2), Autosomal dominant
chr14 103519657 103522858 14q32 14q32.33 123280 CKB, CKBB, BCK Creatine kinase, brain type CKB 1152 ENSG00000166165 distal to PI and AACT; closely linked to AKT1 and IGH; proximal to IGH Ckb (MGI:88407)
chr14 103562956 103592186 14q32.33 14q32.33 616003 APOPT1, APOP Apoptogenic protein 1, mitochondrial APOPT1 84334 ENSG00000256053 Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial Apopt1 (MGI:1915270)
chr14 103629187 103701550 14q32.3 14q32.33 600025 KLC1, KNS2, KNS2A Kinesin, light chain 1 KLC1 3831 ENSG00000126214 Klc1 (MGI:107978)
chr14 103697610 103715485 14q32.3 14q32.33 600675 XRCC3, CMM6 X-ray-repair, complementing defective, repair in Chinese hamster cells-3 XRCC3 7517 ENSG00000126215 {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; {Melanoma, cutaneous malignant, 6}, 613972 (3) Xrcc3 (MGI:1921585)
chr14 103715743 103733667 14q32.33 14q32.33 613504 ZFYVE21, ZF21 Zinc finger FYVE domain-containing protein 21 ZFYVE21 79038 ENSG00000100711 Zfyve21 (MGI:1915770)
chr14 103912287 103921565 14q32.33 14q32.33 604573 C14orf2, MP68 MP68, rat, homolog of ATP5MPL 9556 ENSG00000156411 2010107E04Rik (MGI:1917507)
chr14 104117404 104117513 14q32.33 14q32.33 611899 MIR203, MIRN203 Micro RNA 203 MIR203A 406986
chr14 104138722 104180897 14q32.33 14q32.33 613231 KIF26A, KIAA1236 Kinesin family member 26A KIF26A 26153 ENSG00000066735 Kif26a (MGI:2447072)
chr14 104689605 104719609 14q32.33 14q32.33 610982 INF2, FSGS5, C14orf173, CMTDIE Inverted formin 2 INF2 64423 ENSG00000203485 Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3), Autosomal dominant; Glomerulosclerosis, focal segmental, 5, 613237 (3) Inf2 (MGI:1917685)
chr14 104724196 104747324 14q32.33 14q32.33 612498 ADSSL1, MPD5 Adenylosuccinate synthase-like 1 ADSSL1 122622 ENSG00000185100 Myopathy, distal, 5, 617030 (3), Autosomal recessive Adssl1 (MGI:87947)
chr14 104769348 104795742 14q32.3 14q32.33 164730 AKT1, CWS6 Murine thymoma viral (v-akt) oncogene homolog-1 AKT1 207 ENSG00000142208 proximal to IGH Breast cancer, somatic, 114480 (3); Colorectal cancer, somatic, 114500 (3); Cowden syndrome 6, 615109 (3); Ovarian cancer, somatic, 167000 (3); Proteus syndrome, somatic, 176920 (3); {Schizophrenia, susceptibility to}, 181500 (2), Autosomal dominant Akt1 (MGI:87986)
chr14 104800596 104804711 14q32.33 14q32.33 613915 ZBTB42, ZNF925, LCCS6 Zinc finger- and BTB domain-containing protein 42 ZBTB42 100128927 ENSG00000179627 mutation identified in 1 LCCS6 family ?Lethal congenital contracture syndrome 6, 616248 (3), Autosomal recessive Zbtb42 (MGI:3644133)
chr14 105009572 105021087 14q32.33 14q32.33 612270 CDCA4, HEPP Cell division cycle-associated protein 4 CDCA4 55038 ENSG00000170779 Cdca4 (MGI:1919213)
chr14 105049388 105065549 14q32.3 14q32.33 606167 GPR132, G2A G protein-coupled receptor-132 GPR132 29933 ENSG00000183484 Gpr132 (MGI:1890220)
chr14 105140980 105168823 14q32 14q32.33 602570 JAG2 Jagged 2 JAG2 3714 ENSG00000184916 Jag2 (MGI:1098270)
chr14 105209285 105315576 14q32.33 14q32.33 604902 BRF1, TAF3C, GTF3B, TF3B90, CFDS BRF1, S. cerevisiae, homolog of (TATA box-binding protein-associated factor 3C) BRF1 2972 ENSG00000185024 Cerebellofaciodental syndrome, 616202 (3), Autosomal recessive Brf1 (MGI:1919558)
chr14 105300717 105398146 14q32.33 14q32.33 610423 PACS2, KIAA0602 Phosphofurin acidic cluster sorting protein 2 PACS2 23241 ENSG00000179364 Pacs2 (MGI:1924399)
chr14 105419848 105470728 14q32.3 14q32.33 603526 MTA1 Metastasis-associated gene 1 MTA1 9112 ENSG00000182979 Mta1 (MGI:2150037)
chr14 105472937 105480169 14q32.3 14q32.33 601183 CRIP2, CRP2 Cysteine-rich intestinal protein 2 CRIP2 1397 ENSG00000182809
chr14 105486919 105488788 14q32.33 14q32.33 123875 CRIP1, CRIP Cysteine-rich intestinal protein 1 CRIP1 1396 ENSG00000213145 previously assigned to 7q11.23 Crip1 (MGI:88501)
chr14 105586436 106879843 14q32.33 14q32.33 146910 IGHD@ Immunoglobulin heavy chain diversity gene cluster IGH 3492 many genes
chr14 105586436 106879843 14q32.33 14q32.33 147010 IGHJ@ Immunoglobulin heavy chain joining gene cluster IGH 3492 more than 4 genes
chr14 105586436 106879843 14q32.33 14q32.33 147070 IGHV@ Immunoglobin heavy polypeptide, variable gene cluster IGH 3492 ~250 genes; orientation: cen-PI-D14S1-IGH-IGHV--qter; 3' centromeric, 5' telomeric; IgM telomeric to IgG
chr14 105586936 105588393 14q32.33 14q32.33 147000 IGHA2 Constant region of heavy chain of IgA2 IGHA2 3494
chr14 105600065 105601726 14q32.33 14q32.33 147180 IGHE Constant region of heavy chain of IgE IGHE 3497 pseudogene IGHEP1 nearby; IGHEP2 on chr.9
chr14 105624475 105626064 14q32.33 14q32.33 147130 IGHG4 Constant region of heavy chain of IgG4 IGHG4 3503
chr14 105643202 105644788 14q32.33 14q32.33 147110 IGHG2 Constant region of heavy chain of IgG2 IGHG2 3501 5'-G2-17kb-G4-3'; closeness of IGG3 and IGG1 known from Lepore-like myeloma protein IgG2 deficiency, selective (3)
chr14 105707167 105708663 14q32.33 14q32.33 146900 IGHA1 Constant region of heavy chain of IgA1 IGHA1 3493 Fused with IRTA1 in multiple myeloma
chr14 105741472 105743069 14q32.33 14q32.33 147100 IGHG1 Constant region of heavy chain of IgG1 IGHG1 3500
chr14 105765913 105771404 14q32.33 14q32.33 147120 IGHG3 Constant region of heavy chain of IgG3 IGHG3 3502
chr14 105838400 105845676 14q32.33 14q32.33 147170 IGHD Constant region of heavy chain of IgD IGHD 3495
chr14 105851965 105856216 14q32.33 14q32.33 147020 IGHM, MU, AGM1 Constant region of heavy chain of IgM IGHM 3507 Agammaglobulinemia 1, 601495 (3), Autosomal recessive
chr14 105914358 105914388 14q32.33 14q32.33 611937 IGHD3-3, DXP4 Immunoglobulin heavy chain diversity gene 3-3 IGHD3-3 28501
chr14 105917978 105932641 14q32.33 14q32.33 616623 KIAA0125, FAM30A, C14orf110 KIAA0125 gene, noncoding FAM30A 9834
chr14 106268605 106269060 14q32.33 14q32.33 611939 IGHV3-23, IGHV323, DP47, VH26 Immunoglobulin heavy chain variable gene 3-23 IGHV3-23 28442
chr14 0 107043718 Chr.14 151020 LCH Lentil agglutinin-binding
chr14 0 107043718 Chr.14 608251 PHOBS Phobia, specific 404684 Phobia, specific, 608251 (2)
chr14 0 107043718 Chr.14 616606 RC14S Ring chromosome 14 syndrome Ring chromosome 14 syndrome, 616606 (4), Isolated cases
chr15 4200000 9700000 15p12 180452 RNR3 Ribosomal RNA-3 RNR3 6054
chr15 19000000 25500000 15q11 608636 AUTS4 Autism, susceptibility to, 4 {Autism susceptibility 4}, 608636 (2), Autosomal dominant
chr15 19000000 33400000 15q11-q13 607202 CELIAC5, GSES Celiac disease, susceptibility to, 5 338332 in homogeneous Finnish population {Celiac disease, susceptibility to, 5}, 607202 (2)
chr15 19000000 33400000 15q11-q13 609745 GLC1I Glaucoma 1, open angle, I GLC1I 497188 max lod at GABRB3 Glaucoma 1, open angle, I, 609745 (2)
chr15 19000000 101991189 15q11-qter 122460 HCVS Human coronavirus sensitivity HCVS 3063
chr15 19000000 101991189 15q 604329 HYT2 Hypertension, essential, susceptibility to, 2 50986 {Hypertension, essential, susceptibility to, 2}, 145500 (2), Multifactorial
chr15 19000000 27800000 15q11-q12 146990 IGHDY2 Immunoglobulin heavy chain diversity region-2 3496 ?functional
chr15 19000000 101991189 15q 214900 LCS1, CHLS Cholestasis-lymphedema syndrome LCS1 84565 Cholestasis-lymphedema syndrome, 214900 (2), Autosomal recessive
chr15 19000000 67200000 15q11-q22 107254 MIC12 Antigen identified by monoclonal antibody 30.2A8 MIC12 4273 in myoblasts, but not myotubes
chr15 19000000 27800000 15q11-q12 108990 MIC7 Attached cell antigen 28.3.7 MIC7 4270
chr15 19000000 33400000 15q11-q13 603857 MRKN3AS, ZNF127AS MKRN3 antisense RNA MKRN3-AS1 10108
chr15 19000000 49200000 15q11-q21.1 613328 RCHTS Roifman-Chitayat syndrome 100462676 ?1p36.23-p33 ?Roifman-Chitayat syndrome, 613328 (2), Autosomal recessive
chr15 20500000 25500000 15q11.2 615656 DEL15q11.2, C15DELq11.2 Chromosome 15q11.2 deletion syndrome deleted region spans 300-500kb between BP1 and BP2 Chromosome 15q11.2 deletion syndrome, 615656 (4), Autosomal dominant
chr15 20500000 27800000 15q11.2-q12 609179 MGR7 Migraine with aura, susceptibility to, 7 553992 between D15S113 and D15S1019 {Migraine with aura, susceptibility to, 7}, 609179 (2)
chr15 20669467 20756150 15q11.2 15q11.2 601889 NBEAP1, BCL8 Neurobeachin pseudogene 1 NBEAP1 606
chr15 22786224 22829788 15q11.1 15q11.2 608145 NIPA1, SPG6 Nonimprinted gene in Prader-Willi syndrome/Angelman syndrome chromosome region 1 NIPA1 123606 ENSG00000170113 Spastic paraplegia 6, autosomal dominant, 600363 (3), Autosomal dominant Nipa1 (MGI:2442058)
chr15 22838640 22868383 15q11.2 15q11.2 608146 NIPA2 Nonimprinted gene in Prader-Willi syndrome/Angelman syndrome chromosome region 2 NIPA2 81614 ENSG00000140157 Nipa2 (MGI:1913918)
chr15 22867051 22980905 15q11 15q11.2 606322 CYFIP1, KIAA0068 Cytoplasmic FMRP interacting protein 1 CYFIP1 23191 ENSG00000273749 Cyfip1 (MGI:1338801)
chr15 22983025 23039672 15q11.2 15q11.2 608147 TUBGCP5, GCP5, KIAA1899 Tubulin-gamma complex-associated protein 5 TUBGCP5 114791 ENSG00000275835 Tubgcp5 (MGI:2178836)
chr15 23565306 23568019 15q11-q13 15q11.2 603856 MKRN3, ZFP127, ZNF127, CPPB2 Makorin 3 MKRN3 7681 ENSG00000179455 expressed only from paternal allele Precocious puberty, central, 2, 615346 (3), Autosomal dominant Mkrn3 (MGI:2181178)
chr15 23643548 23647845 15q11.2 15q11.2 605283 MAGEL2, NDNL1, SHFYNG MAGE-like 2 MAGEL2 54551 ENSG00000254585 Schaaf-Yang syndrome, 615547 (3), Autosomal dominant Magel2 (MGI:1351648)
chr15 23685406 23687302 15q11-q13 15q11.2 602117 NDN Necdin NDN 4692 ENSG00000182636 Prader-Willi syndrome, 176270 (3), Isolated cases Ndn (MGI:97290)
chr15 24164776 24169947 15q11.2 15q11.2 611217 PWRN2 Prader-Willi region noncoding RNA 2 PWRN2 791115
chr15 24558156 24587779 15q11.2 15q11.2 611215 PWRN1 Prader-Willi region noncoding RNA 1 PWRN1 791114
chr15 24675393 24683445 15q11.2 15q11.2 610922 NPAP1, C15orf2 Nuclear pore associated protein 1 NPAP1 23742 ENSG00000185823
chr15 24823607 25419461 15q11.2 15q11.2 616259 SNHG14, LNCAT, UBE3AATS Small nucleolar RNA host gene 14 SNHG14 104472715
chr15 24823607 24978722 15q12 15q11.2 182279 SNRPN Small nuclear ribonucleoprotein polypeptide N SNRPN 6638 ENSG00000128739 Prader-Willi syndrome, 176270 (3), Isolated cases Snrpn (MGI:98347)
chr15 24984859 24988231 15q11-q13 15q11.2 600162 D15S226E, PAR5 Prader-Willi/Angelman syndrome-5 PWAR5 8123 paternally imprinted
chr15 25051475 25051571 15q11.2 15q11.2 605436 SNORD116-1, PWCR1 Small nucleolar RNA, C/D box, 116-1 SNORD116-1 100033413
chr15 25116544 25122475 15q11-q13 15q11.2 601491 IPW Imprinted in Prader-Willi syndrome IPW 3653
chr15 25135641 25138052 15q11-q13 15q11.2 600161 D15S227E, PAR1 Prader-Willi/Angelman region-1 PWAR1 145624 paternally imprinted
chr15 25170722 25170803 15q11.2 15q11.2 609837 SNORD115-1, RNHBII52 Small nucleolar RNA, C/D box, 115-1 SNORD115-1 338433
chr15 25337233 25439380 15q11-q13 15q11.2 601623 UBE3A, ANCR Ubiquitin protein ligase E3A UBE3A 7337 ENSG00000114062 same location as PWS Angelman syndrome, 105830 (3), Isolated cases Ube3a (MGI:105098)
chr15 25500000 27800000 15q12 610321 HPC7 Prostate cancer, hereditary, 7 100188809 {Prostate cancer, hereditary, 7}, 610321 (2)
chr15 25500000 44500000 15q12-q15 605738 MCOPCB2 Microphthalmia, isolated, with coloboma 2 80771 Microphthalmia with coloboma 2, 605738 (2)
chr15 25672240 25865143 15q11-q13 15q12 605855 ATP10A, ATP10C, ATPVC ATPase, class V, type 10A ATP10A 57194 ENSG00000206190 Atp10a (MGI:1330809)
chr15 26543545 26773787 15q11.2-q12 15q12 137192 GABRB3, ECA5, EIEE43 Gamma-aminobutyric acid (GABA) A receptor, beta-3 GABRB3 2562 ENSG00000166206 {Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3); Epileptic encephalopathy, early infantile, 43, 617113 (3), Autosomal dominant Gabrb3 (MGI:95621)
chr15 26866718 26949209 15q11.2-q12 15q12 137142 GABRA5 Gamma-aminobutyric acid (GABA) A receptor, alpha-5 GABRA5 2558 ENSG00000186297 100kb from GABRB3 Gabra5 (MGI:95617)
chr15 26971281 27541118 15q11.2-q12 15q12 600233 GABRG3 Gamma-aminobutyric acid (GABA) A receptor, gamma-3 GABRG3 2567 ENSG00000182256 cen--G3--A5--B3 Gabrg3 (MGI:95624)
chr15 27719007 28099341 15q11.2-q12 15q12-q13 611409 OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1 Pink-eye dilution, murine, homolog of (oculocutaneous albinism II) OCA2 4948 ENSG00000104044 ?hypopigmentation in PWS and AS Albinism, brown oculocutaneous, 203200 (3), Autosomal recessive; Albinism, oculocutaneous, type II, 203200 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive Oca2 (MGI:97454)
chr15 27800000 44500000 15q13-q15 109710 B2MR Beta-2-microglobulin regulator B2MR 568
chr15 27800000 42500000 15q13.1-q15.1 608646 CILD4 Ciliary dyskinesia, primary, 4 408257 between D15S1012 and D15S1048 Ciliary dyskinesia, primary, 4, 608646 (2)
chr15 27800000 33400000 15q13 613025 SCZD13 Schizophrenia 13 100329170 associated with deletion at 15q13.3 {Schizophrenia, susceptibility to, 13}, 613025 (2)
chr15 27800000 33400000 15q13 208500 SRTD1, ATD1 Short-rib thoracic dysplasia 1 with or without polydactyly ATD 465 Short-rib thoracic dysplasia 1 with or without polydactyly, 208500 (2), Autosomal recessive
chr15 28111036 28322172 15q13.1 15q13.1 605837 HERC2, SHEP1, MRT38 HECT domain and RCC1-like domain 2 HERC2 8924 ENSG00000128731 mutations in intron 4 Mental retardation, autosomal recessive 38, 615516 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive Herc2 (MGI:103234)
chr15 28885478 29118314 15q 15q13.1 602712 APBA2 Amyloid beta A4 precursor protein-binding, family A, member 2 APBA2 321 ENSG00000034053 Apba2 (MGI:1261791)
chr15 29268148 29269815 15q13.1 15q13.1 608243 NSMCE3, NDNL2, MAGEG1, LICS NSE3 homolog, SMC5-SMC6 complex component NSMCE3 56160 ENSG00000185115 Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 (3), Autosomal recessive Nsmce3 (MGI:1913897)
chr15 29699366 29968923 15q13 15q13.1 601009 TJP1 Tight junction protein 1 (zona occludens 1) TJP1 7082 ENSG00000104067 Tjp1 (MGI:98759)
chr15 30626147 30649181 15q13.2 15q13.2 616310 ARHGAP11B, FAM7B1 RHO GTPase-activating protein 11B ARHGAP11B 89839 ENSG00000285077
chr15 30900000 33400000 15q13.3 612001 DEL15q13.3, MICRODEL15q13.3 Chromosome 15q13.3 microdeletion syndrome Chromosome 15q13.3 microdeletion syndrome, 612001 (4)
chr15 30903851 30943107 15q13.2-q13.3 15q13.3 613534 FAN1, MTMR15, KIAA1018, KMIN FANCD2/FANCI-associated nuclease 1 FAN1 22909 ENSG00000198690 Interstitial nephritis, karyomegalic, 614817 (3), Autosomal recessive Fan1 (MGI:3045266)
chr15 31001060 31161272 15q13-q14 15q13.3 603576 TRPM1, MLSN1, CSNB1C Transient receptor potential cation channel, subfamily M, member 1 (melastatin) TRPM1 4308 ENSG00000134160 Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3) Trpm1 (MGI:1330305)
chr15 31065031 31065140 15q13.3 15q13.3 613753 MIR211, MIRN211 Micro RNA 211 MIR211 406993
chr15 31326854 31435664 15q12 15q13.3 605328 KLF13, RFLAT1, FKLF2 Kruppel-like factor 13 KLF13 51621 ENSG00000169926 Klf13 (MGI:1354948)
chr15 31475397 31870671 15q13.3 15q13.3 612024 OTUD7A, OTUD7, C16orf15, CEZANNE2 OTU domain-containing protein 7A OTUD7A 161725 ENSG00000169918 Otud7a (MGI:2158505)
chr15 32030461 32172520 15q14 15q13.3 118511 CHRNA7 Cholinergic receptor, nicotinic, alpha polypeptide-7 CHRNA7 1139 ENSG00000175344 Chrna7 (MGI:99779)
chr15 32615143 32639936 15q13.2 15q13.3 610589 ARHGAP11A, KIAA0013 RHO GTPase-activating protein 11A ARHGAP11A 9824 ENSG00000198826 Arhgap11a (MGI:2444300)
chr15 32641612 32697097 15q11-q15 15q13.3 173120 SCG5, SGNE1 Secretogranin V (7B2 protein ) SCG5 6447 ENSG00000166922 Scg5 (MGI:98289)
chr15 32718003 32734668 15q13-q15 15q13.3 603054 GREM1, CKTSF1B1 Gremlin 1 homolog, cystine knot superfamily GREM1 26585 ENSG00000166923 Grem1 (MGI:1344337)
chr15 32765543 33194764 15q13-q14 15q13.3 136535 FMN, LD Formin (limb deformity) FMN1 342184 ENSG00000248905 Fmn1 (MGI:101815)
chr15 33310772 33866102 15q14-q15 15q13-q14 180903 RYR3 Ryanodine receptor-3 RYR3 6263 ENSG00000198838 Ryr3 (MGI:99684)
chr15 33400000 39800000 15q14 616898 DEL15q14, C15DELq14 Chromosome 15q14 deletion syndrome Chromosome 15q14 deletion syndrome, 616898 (4), Autosomal dominant
chr15 33400000 39800000 15q14 604827 EIG7, EJM2 Epilepsy, idiopathic generalized, susceptibility to, 7 EJM2 50715 ?role of CHRNA7 {Epilepsy, idiopathic generalized, susceptibility to, 7}, 604827 (2), Autosomal recessive; Epilepsy, juvenile myoclonic, 604827 (2), Autosomal recessive
chr15 33968313 34065093 15q26 15q14 118496 CHRM5 Cholinergic receptor, muscarinic, 5 CHRM5 1133 ENSG00000184984 Chrm5 (MGI:109248)
chr15 33851784 34074876 Chr.15 15q14 605265 AVEN Cell death regulator AVEN AVEN 57099 ENSG00000169857 Aven (MGI:1921518)
chr15 34140673 34210095 15q14 15q14 616235 KATNBL1, C15orf29 Katanin, p80 subunit, B-like 1 KATNBL1 79768 ENSG00000134152 Katnbl1 (MGI:1919675)
chr15 34224996 34230164 15q14 15q14 616245 EMC4, TMEM85, PIG17 ER membrane protein complex subunit 4 EMC4 51234 ENSG00000128463 Emc4 (MGI:1915282)
chr15 34229995 34338063 15q13-q14 15q14 604878 SLC12A6, KCC3A, KCC3B, KCC3, ACCPN Solute carrier family 12 (potassium/chloride transporters), member 6 SLC12A6 9990 ENSG00000140199 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3), Autosomal recessive Slc12a6 (MGI:2135960)
chr15 34341715 34343160 15q14-q15 15q14 606471 NOLA3, NOP10, DKCB1 Nucleolar protein family A, member 3 NOP10 55505 ENSG00000182117 Dyskeratosis congenita, autosomal recessive 1, 224230 (3), Autosomal recessive Nop10 (MGI:1913431)
chr15 34358887 34367195 15q14 15q14 612039 AGPAT7, AYTL3 1-acylglycerol-3-phosphate O-acyltransferase 7 LPCAT4 254531 ENSG00000176454 Lpcat4 (MGI:2138993)
chr15 34379067 34437465 15q14 15q14 616180 GOLGA8A, KIAA0855 Golgin A8 family, member A GOLGA8A 23015 ENSG00000175265
chr15 34525275 34583650 15q14 15q14 609619 GOLGA8B, KIAA0855 Golgi autoantigen, golgin subfamily A, 8B GOLGA8B 440270 ENSG00000215252
chr15 34751745 34754954 15q14 15q14 607058 GJD2, GJA9, CX36 Gap junction protein, delta-2 (connexin 36) GJD2 57369 ENSG00000159248 Gjd2 (MGI:1334209)
chr15 34788095 34795725 15q14 15q14 102540 ACTC1, CMD1R, CMH11, ASD5, LVNC4 Actin, alpha, cardiac muscle ACTC1 70 ENSG00000159251 Atrial septal defect 5, 612794 (3), Autosomal dominant; Cardiomyopathy, dilated, 1R, 613424 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 11, 612098 (3), Autosomal dominant; Left ventricular noncompaction 4, 613424 (3), Autosomal dominant Actc1 (MGI:87905)
chr15 34856350 34969793 15q14 15q14 610548 AQR, IBP160, KIAA0560 Aquarius, mouse, homolog of AQR 9716 ENSG00000021776 Aqr (MGI:1276102)
chr15 36579602 36810259 15q14 15q14 615626 C15orf41 Chromosome 15 open reading fram 41 C15orf41 84529 ENSG00000186073 Dyserythropoietic anemia, congenital, type Ib, 615631 (3), Autosomal recessive BC052040 (MGI:3026886)
chr15 36891020 37101298 15q14-q25 15q14 601740 MEIS2, MRG1, CPCMR Meis1, mouse, homolog of, 2 MEIS2 4212 ENSG00000134138 Cleft palate, cardiac defects, and mental retardation, 600987 (3), Autosomal dominant Meis2 (MGI:108564)
chr15 38252086 38357248 15q13.2 15q14 609291 SPRED1, NFLS Sprouty-related EVH1 domain-containing protein 1 SPRED1 161742 ENSG00000166068 Legius syndrome, 611431 (3), Autosomal dominant Spred1 (MGI:2150016)
chr15 38454126 38487709 15q14 15q14 616142 FAM98B Family with sequence similarity 98, member B FAM98B 283742 ENSG00000171262 Fam98b (MGI:1915465)
chr15 38488096 38564805 15q15 15q14 603962 RASGRP1 Ras guanyl nucleotide releasing protein-1 RASGRP1 10125 ENSG00000172575 Rasgrp1 (MGI:1314635)
chr15 39581078 39598917 15q15 15q14 188060 THBS1 Thrombospondin 1 THBS1 7057 ENSG00000137801 Thbs1 (MGI:98737)
chr15 39597280 39782837 15q14 15q14 615795 FSIP1, HSD10 Fibrous sheath-interacting protein 1 FSIP1 161835 ENSG00000150667 Fsip1 (MGI:1918563)
chr15 39795048 39920938 15q14-q15 15q14-q15 612183 GPR176 G protein-coupled receptor 176 GPR176 11245 ENSG00000166073 Gpr176 (MGI:2685858)
chr15 39800000 44500000 15q15 605419 SCZD10 Schizophrenia 10 SCZD10 63944 between D15S1042 and D15S659 {Schizophrenia 10}, 605419 (2), Autosomal dominant
chr15 39934100 40036152 15q15.1 15q15.1 609280 EIF2AK4, GCN2, KIAA1338, PVOD2 Eukaryotic translation initiation factor 2-alpha kinase 4 EIF2AK4 440275 ENSG00000128829 Pulmonary venoocclusive disease 2, 234810 (3), Autosomal recessive Eif2ak4 (MGI:1353427)
chr15 40035689 40039201 15q22 15q15.1 600708 SRP14 Signal recognition particle 14kD (homologous Alu RNA-binding protein) SRP14 6727 ENSG00000140319 Srp14 (MGI:107169)
chr15 40087889 40108883 15q14 15q15.1 606266 BMF BCL2-modifying factor BMF 90427 ENSG00000104081 Bmf (MGI:2176433)
chr15 40161008 40221135 15q15 15q15.1 602860 BUB1B, BUBR1, MVA1 Budding uninhibited by benzimidazoles 1, S. cerevisiae, homolog of, beta BUB1B 701 ENSG00000156970 Colorectal cancer, somatic, 114500 (3); Mosaic variegated aneuploidy syndrome 1, 257300 (3), Autosomal recessive; [Premature chromatid separation trait], 176430 (3), Autosomal dominant Bub1b (MGI:1333889)
chr15 40239090 40277486 15q15.1 15q15.1 608110 PAK6 p21-activated kinase 6 PAK6 56924 ENSG00000137843 Pak6 (MGI:2679420)
chr15 40285495 40307972 15q15 15q15.1 604114 PLCB2 Phospholipase C, beta-2 PLCB2 5330 ENSG00000137841 Platelet PLC beta-2 deficiency (1) Plcb2 (MGI:107465)
chr15 40354358 40375988 Chr.15 15q15.1 607503 DISPB, KIAA1742 Dispatched, Drosophila, homolog of, B DISP2 85455 ENSG00000140323 Disp2 (MGI:2388733)
chr15 40382720 40394287 15q15.1 15q15.1 614718 KNSTRN, C15orf23, SKAP Kinetochore-localized astrin/SPAG5 binding protein KNSTRN 90417 ENSG00000128944 Knstrn (MGI:1289298)
chr15 40405484 40435947 15q14-q15 15q15.1 607036 IVD Isovaleryl Coenzyme A dehydrogenase IVD 3712 ENSG00000128928 Isovaleric acidemia, 243500 (3), Autosomal recessive Ivd (MGI:1929242)
chr15 40439720 40468241 15q15.1 15q15.1 613880 BAHD1, KIAA0945 BROMO-adjacent homology domain-containing protein 1 BAHD1 22893 ENSG00000140320 Bahd1 (MGI:2139371)
chr15 40470960 40473157 15q14 15q15.1 608429 CHST14, D4ST1, ATCS, EDSMC1 Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 CHST14 113189 ENSG00000169105 Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3), Autosomal recessive Chst14 (MGI:1919386)
chr15 40594011 40664341 15q15.1 15q15.1 609173 KNL1, CASC5, AF15Q14, KIAA1570, D40, MCPH4 Kinetochore scaffold 1 KNL1 57082 ENSG00000137812 Microcephaly 4, primary, autosomal recessive, 604321 (3), Autosomal recessive Knl1 (MGI:1923714)
chr15 40694773 40732339 15q15.1 15q15.1 179617 RAD51A, RECA, MRMV2, FANCR RAD51, S. cerevisiae, homolog of, A (E. coli RecA homolog) RAD51 5888 ENSG00000285396 mutation identified in 1 FANCR patient {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; ?Fanconi anemia, complementation group R, 617244 (3), Autosomal dominant; Mirror movements 2, 614508 (3), Autosomal dominant Rad51 (MGI:97890)
chr15 40735883 40755335 15q15.1 15q15.1 611873 FAM82A2, FAM82C, RMD3, PTPIP51 Family with sequence similarity 82, member A2 RMDN3 55177 ENSG00000137824 Rmdn3 (MGI:1915059)
chr15 40764086 40767712 15q15.1 15q15.1 602437 GCHFR, GFRP GTP cyclohydrolase I feedback regulatory protein GCHFR 2644 ENSG00000137880 Gchfr (MGI:2443977)
chr15 40767447 40807477 15q15.1 15q15.1 616844 DNAJC17 DNAJ/HSP40 homolog, subfamily C, member 17 DNAJC17 55192 ENSG00000104129 Dnajc17 (MGI:1916658)
chr15 40815444 40828792 15q15.1 15q15.1 613256 PPP1R14D, GBPI1 Protein phosphatase 1, regulatory subunit 14D PPP1R14D 54866 ENSG00000166143 Ppp1r14d (MGI:1919362)
chr15 40894409 40903974 15q15.1 15q15.1 608551 VPS18 Vacuolar protein sorting 18, yeast, homolog of VPS18 57617 ENSG00000104142 Vps18 (MGI:2443626)
chr15 40929332 40939059 15q21.1 15q15.1 605185 DLL4, AOS6 Delta-like 4 DLL4 54567 ENSG00000128917 Adams-Oliver syndrome 6, 616589 (3), Autosomal dominant Dll4 (MGI:1859388)
chr15 40942136 40956518 15q15.1 15q15.1 614587 CHAC1 ChaC, E. coli, homolog of, 1 CHAC1 79094 ENSG00000128965 Chac1 (MGI:1916315)
chr15 40978879 41117777 15q15.1 15q15.1 610169 INO80, INOC1 INO80 complex subunit INO80 54617 ENSG00000128908 Ino80 (MGI:1915392)
chr15 41231155 41281886 15q13.3 15q15.1 606988 CHP Calcineurin B homologous protein CHP1 11261 ENSG00000187446 Chp1 (MGI:1927185)
chr15 41332693 41381049 15q15.1 15q15.1 612818 NUSAP1, ANKT, NUSAP Nucleolar and spindle-associated protein 1 NUSAP1 51203 ENSG00000137804 Nusap1 (MGI:2675669)
chr15 41387348 41402500 15q13.3 15q15.1 606934 NDUFAF1, CIA30, CGI65 NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1 NDUFAF1 51103 ENSG00000137806 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufaf1 (MGI:1916952)
chr15 41417103 41483562 15q15.1 15q15.1 611633 RTF1, KIAA0252 RTF1, S. cerevisiae, homolog of RTF1 23168 ENSG00000137815 Rtf1 (MGI:1309480)
chr15 41493857 41503558 15q14-q21 15q15.1 147521 ITPKA Inositol 1,4,5-trisphosphate 3-kinase A ITPKA 3706 ENSG00000137825 Itpka (MGI:1333822)
chr15 41503638 41513886 15q15.1-q21.1 15q15.1 151520 LTK, TYK1 Leukocyte tyrosine kinase LTK 4058 ENSG00000062524 Ltk (MGI:96840)
chr15 41517175 41544276 15q15.1 15q15.1 611475 RPAP1, KIAA1403 RNA polymerase II-associated protein 1 RPAP1 26015 ENSG00000103932 Rpap1 (MGI:1916175)
chr15 41559021 41579337 15q15.1 15q15.1 600341 TYRO3 TYRO3 protein tyrosine kinase TYRO3 7301 ENSG00000092445 Tyro3 (MGI:104294)
chr15 41621224 41769942 15q15 15q15.1 616061 MGA, KIAA0518 MAX dimerization protein MGA MGA 23269 ENSG00000174197 Mga (MGI:1352483)
chr15 41774433 41827854 15q13 15q15.1 616786 MAPKBP1, JNKBP1, NPHP20 Mitogen-activated protein kinase-binding protein 1 MAPKBP1 23005 ENSG00000137802 Nephronophthisis 20, 617271 (3), Autosomal recessive Mapkbp1 (MGI:1347004)
chr15 41848145 41894076 15q21 15q15.1 605916 SPTBN5, BSPECV Spectrin, beta, non-erythrocytic 5 SPTBN5 51332 ENSG00000137877 Sptbn5 (MGI:2685200)
chr15 41838812 41848147 Chr.15 15q15.1 606088 PLA2G4B Phospholipase A2, group IVB PLA2G4B 100137049 ENSG00000243708 Pla2g4b (MGI:2384819)
chr15 41899439 41972556 15q11.1 15q15.1 605892 EHD4 EH domain-containing 4 EHD4 30844 ENSG00000103966 Ehd4 (MGI:1919619)
chr15 42067561 42094558 15q15 15q15.1 612864 PLA2G4D Phospholipase A2, Group IVD PLA2G4D 283748 ENSG00000159337 Pla2g4d (MGI:1925640)
chr15 42158700 42208330 15q15.1 15q15.1 612188 VPS39, VAM6, TLP, KIAA0770 Vacuolar protein sorting 39, yeast, homolog of VPS39 23339 ENSG00000166887 Vps39 (MGI:2443189)
chr15 42273657 42353665 15q15.1-q15.2 15q15.1 104180 GANC Neutral alpha-glucosidase C GANC 2595 ENSG00000214013 Ganc (MGI:1923301)
chr15 42359499 42412316 15q15.1-q21.1 15q15.1 114240 CAPN3, CANP3 Calpain, large polypeptide L3 CAPN3 825 ENSG00000092529 Muscular dystrophy, limb-girdle, type 2A, 253600 (3), Autosomal recessive Capn3 (MGI:107437)
chr15 42491243 42533060 15q21-q22 15q15.1-q15.2 602534 SNAP23 Synaptosomal-associated protein, 23kD SNAP23 8773 ENSG00000092531 Snap23 (MGI:109356)
chr15 42548812 42569993 15q15.2 15q15.2 613429 HAUS2, CEP27 HAUS augmin-like complex, subunit 2 HAUS2 55142 ENSG00000137814 Haus2 (MGI:1913546)
chr15 42575609 42720997 15q15 15q15.2 614642 STARD9, KIAA1300 START domain-containing protein 9 STARD9 57519 ENSG00000159433 Stard9 (MGI:3045258)
chr15 42723543 42737132 15q15 15q15.2 607465 CDAN1, CDA1, CDAN1A Codanin 1 CDAN1 146059 ENSG00000140326 Dyserythropoietic anemia, congenital, type Ia, 224120 (3), Autosomal recessive Cdan1 (MGI:1916218)
chr15 42738973 42920994 15q15.2 15q15.2 611695 TTBK2, SCA11 Tau tubulin kinase 2 TTBK2 146057 ENSG00000128881 Spinocerebellar ataxia 11, 604432 (3), Autosomal dominant Ttbk2 (MGI:2155779)
chr15 42942896 43106087 15q15-q21.1 15q15.2 605981 UBR1, JBS Ubiquitin-protein ligase E3-alpha UBR1 197131 ENSG00000159459 Johanson-Blizzard syndrome, 243800 (3), Autosomal recessive Ubr1 (MGI:1277977)
chr15 43185117 43197176 Chr.15 15q15.2 607089 CCNDBP1, GCIP Cyclin D-type-binding protein 1 CCNDBP1 23582 ENSG00000166946 Ccndbp1 (MGI:109595)
chr15 43197226 43225855 15q15 15q15.2 177070 EPB42, SPH5 Erythrocyte surface protein band 4.2 EPB42 2038 ENSG00000166947 Spherocytosis, type 5, 612690 (3) Epb42 (MGI:95402)
chr15 43232594 43266856 15q15.2 15q15.2 603805 TGM5, TGX, PSS2 Transglutaminase 5 TGM5 9333 ENSG00000104055 Peeling skin syndrome 2, 609796 (3), Autosomal recessive Tgm5 (MGI:1921426)
chr15 43276276 43302254 15q15.2 15q15.2-q15.3 606776 TGM7, TGMZ Transglutaminase 7 TGM7 116179 ENSG00000159495 Tgm7 (MGI:2151164)
chr15 43300000 44500000 15q15.3 611102 DEL15q15.3, C15DELq15.3 Chromosome 15q15.3 deletion syndrome Deafness and male infertility, 611102 (4), Autosomal recessive
chr15 43300000 44500000 15q15.3 134600 FRTS1, FRTS, RFS Fanconi renotubular syndrome 65211 Fanconi renotubular syndrome 1, 134600 (2), Autosomal dominant
chr15 43300000 59000000 15q15.3-q22.1 601228 HMPS1, CRAC1, CRCS4, DUP15q, C15DUPq Polyposis syndrome, mixed, hereditary 1 duplication of 40kb of 15q resulting in overexpression of GREM1 {Colorectal cancer, susceptibility to, 4}, 601228 (4), Autosomal dominant; Polyposis syndrome, mixed hereditary 1, 601228 (4), Autosomal dominant
chr15 43327775 43330621 15q15.3 15q15.3 611246 LCMT2, TYW4, KIAA0547 Leucine carboxyl methyltransferase 2 LCMT2 9836 ENSG00000168806 Lcmt2 (MGI:1353659)
chr15 43371058 43409770 15q15 15q15.3 609610 TUBGCP4, GCP4, MCCRP3 Tubulin-gamma complex-associated protein 4 TUBGCP4 27229 ENSG00000137822 Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3), Autosomal recessive Tubgcp4 (MGI:1196293)
chr15 43403063 43510727 15q15-q21 15q15.3 605230 TP53BP1, 53BP1 Tumor protein p53-binding protein-1 TP53BP1 7158 ENSG00000067369 Trp53bp1 (MGI:1351320)
chr15 43517607 43531619 15q13-qter 15q15.3 600178 MAP1A, MAP1L Microtubule-associated protein 1A MAP1A 4130 ENSG00000166963 Map1a (MGI:1306776)
chr15 43533461 43590271 15q15.3 15q15.3 610979 PPIP5K1, HISPPD2A, IPS1, KIAA0377 Diphosphoinositol pentakisphosphate kinase 1 PPIP5K1 9677 ENSG00000168781 Ppip5k1 (MGI:2443281)
chr15 43592856 43599405 15q15 15q15.3 123290 CKMT1B, CKMT1 Creatine kinase, mitochondrial 1B CKMT1B 1159 ENSG00000237289 centromeric to CKMT1A Ckmt1 (MGI:99441)
chr15 43599562 43618799 15q15 15q15.3 606440 STRC, DFNB16 Stereocilin STRC 161497 ENSG00000242866 Deafness, autosomal recessive 16, 603720 (3), Autosomal recessive Strc (MGI:2153816)
chr15 43630561 43648883 15q15.1-q15.3 15q15.3 607249 CATSPER2 Cation channel, sperm-associated, 2 CATSPER2 117155 ENSG00000166762 in region with tandem duplication containing a CATSPER2 pseudogene Catsper2 (MGI:2387404)
chr15 43692643 43699221 15q15 15q15.3 613415 CKMT1A Creatine kinase, mitochondrial 1A CKMT1A 548596 ENSG00000223572 telomeric to CKMT1B Ckmt1 (MGI:99441)
chr15 43746391 43772605 15q15 15q15.3 602046 GRP58 Glucose regulated protein, 58kD PDIA3 2923 ENSG00000167004 Pdia3 (MGI:95834)
chr15 43772599 43777303 15q15.3 15q15.3 609885 ELL3 Elongation factor, RNA polymerase II, 3 ELL3 80237 ENSG00000128886 Ell3 (MGI:2673679)
chr15 43777095 43796088 15q14.3 15q15.3 605054 SERF2, H4F5REL Small EDRK-rich factor 2 SERF2 10169 ENSG00000140264 Serf2 (MGI:1337041)
chr15 43794173 43800096 15q15.3 15q15.3 614550 SERINC4 Serine incorporator 4 SERINC4 619189 ENSG00000184716 Serinc4 (MGI:2441842)
chr15 43800420 43802588 15q15.3 15q15.3 612784 HYPK Huntingtin-interacting protein K HYPK 25764 ENSG00000242028 Hypk (MGI:1914943)
chr15 43804534 43824752 15q15-q12 15q15.3 600215 MFAP1 Microfibrillar-associated protein-1 MFAP1 4236 ENSG00000140259 Mfap1a,Mfap1b (MGI:3694697,MGI:1914782)
chr15 43870760 44195293 15q15.3 15q15.3 616309 FRMD5 FERM domain-containing protein 5 FRMD5 84978 ENSG00000171877 Frmd5 (MGI:2442557)
chr15 44500000 58800000 15q21 105600 CDAN3, CDA3 Congenital dyserythropoietic anemia, type III CDAN3 981 Dyserythropoietic anemia, congenital, type III, 105600 (2), Autosomal dominant
chr15 44500000 67200000 15q21-q22 605728 CTRCT25, CCSSO Cataract 25 80770 Cataract 25, 605728 (2)
chr15 44537067 44562802 15q15.3 15q21.1 603910 EIF3J, EIF3S1 Eukaryotic translation initiation factor 3, subunit J EIF3J 8669 ENSG00000104131 Eif3j2,Eif3j1 (MGI:1925905,MGI:3704486)
chr15 44562695 44663677 15q21.1 15q21.1 610844 SPG11, KIAA1840, FLJ21439, ALS5, CMT2X Spastascin SPG11 80208 ENSG00000104133 Amyotrophic lateral sclerosis 5, juvenile, 602099 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3), Autosomal recessive; Spastic paraplegia 11, autosomal recessive, 604360 (3), Autosomal recessive Spg11 (MGI:2444989)
chr15 44665731 44711405 15q21.1 15q21.1 614661 PATL2, PAT1A, OOMD4 Protein associated with topoisomerase II, S. Cerevisiae, homolog of PATL2 197135 ENSG00000229474 Oocyte maturation defect 4, 617743 (3), Autosomal recessive Patl2 (MGI:1914828)
chr15 44711486 44718158 15q21-q22 15q21.1 109700 B2M, IMD43 Beta-2-microglobulin B2M 567 ENSG00000166710 mutation identified in 1 FVA family ?Amyloidosis, familial visceral, 105200 (3), Autosomal dominant; Immunodeficiency 43, 241600 (3), Autosomal recessive B2m (MGI:88127)
chr15 44736361 44767828 15q21.1 15q21.1 616017 TRIM69, TRIF, RNF36 Tripartite motif-containing protein 69 TRIM69 140691 ENSG00000185880 Trim69 (MGI:1918178)
chr15 44956673 44979222 15q21.1 15q21.1 617131 TERB2, C15orf43 Telomere repeat-binding bouquet formation protein 2 TERB2 145645 ENSG00000167014 Terb2 (MGI:1921651)
chr15 45023103 45075088 15q15.3 15q21.1 182500 SORD, SORD1 Sorbitol dehydrogenase SORD 6652 ENSG00000140263 ?Cataract, congenital, 182500 (2) Sord (MGI:98266)
chr15 45092647 45114160 15q15.3 15q21.1 606759 DUOX2, THOX2, TDH6 Dual oxidase 2 (thyroid oxidase 2) DUOX2 50506 ENSG00000140279 Thyroid dyshormonogenesis 6, 607200 (3), Autosomal recessive Duox2 (MGI:3036280)
chr15 45114320 45118105 15q15 15q21.1 612772 DUOXA2, TDH5 Dual oxidase maturation factor 2 DUOXA2 405753 ENSG00000140274 head-to-head with DUOX2 Thyroid dyshormonogenesis 5, 274900 (3), Autosomal recessive Duoxa2 (MGI:1914061)
chr15 45117365 45129937 15q15 15q21.1 612771 DUOXA1 Dual oxidase maturation factor 1 DUOXA1 90527 ENSG00000140254 tail-to-tail with DUOXA2 Duoxa1 (MGI:2384861)
chr15 45129993 45165577 15q15.3 15q21.1 606758 DUOX1, THOX1 Dual oxidase 1 (thyroid oxidase 1) DUOX1 53905 ENSG00000137857 Duox1 (MGI:2139422)
chr15 45167213 45201174 15q21.1 15q21.1 617313 SHF SH2 domain-containing adaptor protein F SHF 90525 ENSG00000138606 Shf (MGI:3613669)
chr15 45252229 45275933 15q15 15q21.1 606208 SLC28A2, CNT2, SPNT1 Solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 SLC28A2 9153 ENSG00000137860 Slc28a2 (MGI:1913105)
chr15 45361123 45402316 15q21.1 15q21.1 602360 GATM, AGAT, CCDS3 L-arginine:glycine amidinotransferase GATM 2628 ENSG00000171766 Cerebral creatine deficiency syndrome 3, 612718 (3), Autosomal recessive Gatm (MGI:1914342)
chr15 45430528 45433448 15q21.1 15q21.1 608409 NMES1 Normal mucosa of esophagus-specific gene 1 C15orf48 84419 ENSG00000166920 AA467197 (MGI:3034182)
chr15 45479612 45523754 15q21.1 15q21.1 602095 SLC30A4, ZNT4 Solute carrier family 30 (zinc transporter), member 4 SLC30A4 7782 ENSG00000104154 Slc30a4 (MGI:1345282)
chr15 45511135 45556729 15q21.1 15q21.1 611314 HMGN2P46, C15orf21 High mobility group nucleosomal binding domain 2 pseudogene 46 HMGN2P46 283651
chr15 45587122 45609715 15q15 15q21.1 604310 BLOC1S6, BLOS6, PLDN, PA, HPS9 Biogenesis of lysosome-related organelles complex 1, subunit 6 BLOC1S6 26258 ENSG00000104164 mutation identified in 1 HPS9 patient ?Hermansky-pudlak syndrome 9, 614171 (3), Autosomal recessive Bloc1s6 (MGI:1927580)
chr15 45631147 45691293 15q21.1 15q21.1 617658 SQOR, SQRDL Sulfide quinone oxidoreductase SQOR 58472 ENSG00000137767 Sqor (MGI:1929899)
chr15 47184097 47774222 15q21.1 15q21.1 609295 SEMA6D, KIAA1479 Semaphorin 6D SEMA6D 80031 ENSG00000137872 Sema6d (MGI:2387661)
chr15 48120971 48142391 15q21.1 15q21.1 609802 SLC24A5, NCKX5, SHEP4, OCA6 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 SLC24A5 283652 ENSG00000188467 Albinism, oculocutaneous, type VI, 113750 (3), Autosomal recessive; [Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3), Autosomal recessive Slc24a5 (MGI:2677271)
chr15 48206300 48304077 15q15-q21.1 15q21.1 600839 SLC12A1, NKCC2 Solute carrier family 12 (sodium/potassium/chloride transporters), member 1 SLC12A1 6557 ENSG00000074803 Bartter syndrome, type 1, 601678 (3), Autosomal recessive Slc12a1 (MGI:103150)
chr15 48329990 48343372 15q15-q21.1 15q21.1 601266 DUT dUTP pyrophosphatase DUT 1854 ENSG00000128951 Dut (MGI:1346051)
chr15 48408305 48645787 15q21.1 15q21.1 134797 FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS Fibrillin-1 FBN1 2200 ENSG00000166147 Acromicric dysplasia, 102370 (3), Autosomal dominant; Ectopia lentis, familial, 129600 (3), Autosomal dominant; Geleophysic dysplasia 2, 614185 (3), Autosomal dominant; MASS syndrome, 604308 (3); Marfan lipodystrophy syndrome, 616914 (3), Autosomal dominant; Marfan syndrome, 154700 (3), Autosomal dominant; Stiff skin syndrome, 184900 (3), Autosomal dominant; Weill-Marchesani syndrome 2, dominant, 608328 (3), Autosomal dominant Fbn1 (MGI:95489)
chr15 48662533 48811903 15q21.1 15q21.1 613529 CEP152, KIAA0912, MCPH9, SCKL5 Centrosomal protein, 152kD CEP152 22995 ENSG00000103995 Microcephaly 9, primary, autosomal recessive, 614852 (3), Autosomal recessive; Seckel syndrome 5, 613823 (3), Autosomal recessive Cep152 (MGI:2139083)
chr15 48823736 48963443 15q21.1 15q21.1 617372 SHC4, RALP, SHCD SHC transforming protein 4 SHC4 399694 ENSG00000185634 Shc4 (MGI:2655364)
chr15 48878092 48880182 15q21.1-q21.2 15q21.1 605894 EID1, CRI1, C15orf3 EP300-interacting inhibitor of differentiation 1 EID1 23741 ENSG00000255302 Eid1 (MGI:1889651)
chr15 48988637 49046562 15q21.1 15q21.1 615756 SECISBP2L, SBP2L, KIAA0256 Selenocysteine insertion sequence-binding protein 2-like SECISBP2L 9728 ENSG00000138593 Secisbp2l (MGI:1917604)
chr15 49125273 49155656 15q21.2 15q21.1 604508 TRIP15, SGN2, COPS2 Thyroid hormone receptor interactor-15 COPS2 9318 ENSG00000166200
chr15 49155758 49367882 Chr.15 15q21.1-q21.2 137028 GALK2, GK2 Galactokinase-2 GALK2 2585 ENSG00000156958 Galk2 (MGI:1917226)
chr15 49423177 49487325 15q15-q21.1 15q21.2 148180 FGF7 Fibroblast growth factor-7 (keratinocyte growth factor) FGF7 2252 ENSG00000140285 Fgf7 (MGI:95521)
chr15 50182195 50236391 15q21.2 15q21.2 603247 SLC27A2, FACVL1, VLACS Solute carrier family 27 (fatty acid transporter), member 2 (fatty acid CoA ligase, very long-chain 1) SLC27A2 11001 ENSG00000140284 Slc27a2 (MGI:1347099)
chr15 50241944 50266048 15q21-q22 15q21.2 142704 HDC Histidine decarboxylase HDC 3067 ENSG00000140287 {Gilles de la Tourette syndrome, susceptibility to}, 137580 (3), Autosomal dominant Hdc (MGI:96062)
chr15 50277191 50359305 15q21.2 15q21.2 600610 GABPB, BABPB2, GABPB1, E4TF1B, NRF2B1 GA-binding protein transcription factor, beta subunit GABPB1 2553 ENSG00000104064 Gabpb1 (MGI:95611)
chr15 50424358 50501082 15q21.2 15q21.2 603158 USP8, HUMORF8, PITA4 Ubiquitin-specific protease 8 USP8 9101 ENSG00000138592 Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3) Usp8 (MGI:1934029)
chr15 50557157 50686814 15q21 15q21.2 605692 TRPM7, LTRPC7, CHAK, ALSPDC Transient receptor potential cation channel, subfamily M, member 7 TRPM7 54822 ENSG00000092439 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3), Autosomal dominant Trpm7 (MGI:1929996)
chr15 50702265 50765712 15q15.3 15q21.2 608238 SPPL2A, IMP3 Signal peptide peptidase-like 2A SPPL2A 84888 ENSG00000138600 Sppl2a (MGI:1913802)
chr15 50908568 51005899 15q21.2 15q21.2 607244 AP4E1, SPG51, CPSQ4, STUT1 Adaptor-related protein complex 4, epsilon-1 subunit AP4E1 23431 ENSG00000081014 Spastic paraplegia 51, autosomal recessive, 613744 (3), Autosomal recessive; Stuttering, familial persistent, 1, 184450 (3), Autosomal dominant Ap4e1 (MGI:1336993)
chr15 51056595 51105275 15q21.2 15q21.2 616438 TNFAIP8L3, TIPE3 Tumor necrosis factor-alpha-induced protein 8-like 3 TNFAIP8L3 388121 ENSG00000183578 Tnfaip8l3 (MGI:2685363)
chr15 51208056 51338597 15q21.1 15q21.2 107910 CYP19A1, CYP19, ARO Cytochrome P450, family 19, subfamily A, polypeptide 1 (aromatization of androgens) CYP19A1 1588 ENSG00000137869 close to CYP11 in mouse Aromatase deficiency, 613546 (3); Aromatase excess syndrome, 139300 (3), Autosomal dominant Cyp19a1 (MGI:88587)
chr15 51341503 51413364 15q21.2 15q21.2 608603 GLDN, CRGL2, LCCS11 Gliomedin GLDN 342035 ENSG00000186417 Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive Gldn (MGI:2388361)
chr15 51447723 51622832 15q21.2 15q21.2 612186 DMXL2, RC3, KIAA0856, PEPNS, DFNA71 DMX-like 2 DMXL2 23312 ENSG00000104093 mutation identified in 1 PEPNS family and 1 DFNA71 family ?Deafness, autosomal dominant 71, 617605 (3), Autosomal dominant; ?Polyendocrine-polyneuropathy syndrome, 616113 (3), Autosomal recessive Dmxl2 (MGI:2444630)
chr15 51681352 51721025 15q21.3 15q21.2 611796 SCG3 Secretogranin III SCG3 29106 ENSG00000104112 Scg3 (MGI:103032)
chr15 51751560 51816362 15q21.1-q21.2 15q21.2 602928 TMOD2 Tropomodulin 2, neuronal TMOD2 29767 ENSG00000128872 Tmod2 (MGI:1355335)
chr15 51829627 51912137 15q21.1-q21.2 15q21.2 605112 TMOD3 Tropomodulin 3 TMOD3 29766 ENSG00000138594 Tmod3 (MGI:1355315)
chr15 51938023 51971800 15q15.3 15q21.2 610507 LEO1, RDL LEO1 RNA polymerase II associated factor, S. cerevisiae, homolog of LEO1 123169 ENSG00000166477 Leo1 (MGI:2685031)
chr15 52109262 52112774 15q21 15q21.2 606910 BCL2L10 BCL2-like 10 BCL2L10 10017 ENSG00000137875 Bcl2l10 (MGI:1330841)
chr15 52120925 52191367 15q21.2 15q21.2 604447 GNB5, GB5, IDDCA, LADCI Guanine nucleotide-binding protein, beta-5 GNB5 10681 ENSG00000069966 Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3), Autosomal recessive Gnb5 (MGI:101848)
chr15 52192317 52295797 15q21 15q21.2 610022 MYO5C Myosin Vc MYO5C 55930 ENSG00000128833 Myo5c (MGI:2442485)
chr15 52307282 52529049 15q21 15q21.2 160777 MYO5A, MYH12, GS1 Myosin Va MYO5A 4644 ENSG00000197535 Griscelli syndrome, type 1, 214450 (3), Autosomal recessive Myo5a (MGI:105976)
chr15 52547044 52569445 Chr.15 15q21.2 605487 ARPP19, ARPP16 cAMP-regulated phosphoprotein, 19kD ARPP19 10776 ENSG00000128989 Arpp19 (MGI:1891691)
chr15 52755052 52790263 15q21.1-q21.2 15q21.3 604164 ONECUT1, HNF6A, HNF6 One cut domain, family member 1 (hepatocyte nuclear factor 6-alpha) ONECUT1 3175 ENSG00000169856 Onecut1 (MGI:1196423)
chr15 53513740 53762877 15q21.3 15q21.3 613214 WDR72, AI2A3 WD repeat-containing protein 72 WDR72 256764 ENSG00000166415 Amelogenesis imperfecta, type IIA3, 613211 (3), Autosomal recessive Wdr72 (MGI:3583957)
chr15 53837572 54628607 15q21.3 15q21.3 614568 UNC13C Unc13, C. elegans, homolog of, C UNC13C 440279 ENSG00000137766 Unc13c (MGI:2149021)
chr15 55181313 55197032 15q21.3 15q21.3 613262 RSL24D1, RLP24 Ribosomal protein L24 domain-containing protein 1 RSL24D1 51187 ENSG00000137876 Rsl24d1 (MGI:2681840)
chr15 55202965 55291337 15q21 15q21.3 603868 RAB27A, RAM, GS2 Ras-associated protein RAB27A RAB27A 5873 ENSG00000069974 Griscelli syndrome, type 2, 607624 (3), Autosomal recessive Rab27a (MGI:1861441)
chr15 55318934 55355647 15q21-q22 15q21.3 604122 PIGB Phosphatidylinositol glycan, class B PIGB 9488 ENSG00000069943 Pigb (MGI:1891825)
chr15 55355222 55408509 15q21.3 15q21.3 611326 CCPG1, KIAA1254, CPR8 Cell cycle progression 1 CCPG1 9236 ENSG00000260916 Ccpg1 (MGI:1196419)
chr15 55417754 55508233 15q21 15q21.3 608706 DNAAF4, DYX1C1, DYXC1, DYX1, CILD25 Dynein, axonemal, assembly factor 4 DNAAF4 161582 ENSG00000256061 not confirmed by some studies Ciliary dyskinesia, primary, 25, 615482 (3), Autosomal recessive; {Dyslexia, susceptibility to, 1}, 127700 (3), Autosomal dominant Dyx1c1 (MGI:1914935)
chr15 55611539 55743123 15q21.3 15q21.3 613261 PRTG Protogenin, chicken, homolog of PRTG 283659 ENSG00000166450 Prtg (MGI:2444710)
chr15 55826916 55993745 15q 15q21.3 602278 NEDD4 Neural precursor cell expressed, developmentally downregulated-4 NEDD4 4734 ENSG00000069869
chr15 56090532 56247653 15q21.3 15q21.3 612660 RFX7, RFXDC2 Regulatory factor X, 7 RFX7 64864 ENSG00000181827 Rfx7 (MGI:2442675)
chr15 56428730 56465136 15q21.3 15q21.3 610766 MNS1, FLJ11222 Meiosis-specific nuclear structural protein 1 MNS1 55329 ENSG00000138587 Mns1 (MGI:107933)
chr15 56918089 57292594 15q21 15q21.3 600480 TCF12, HTF4, CRS3 Transcription factor-12 (HTF4, helix-loop-helix transcription factors-4) TCF12 6938 ENSG00000140262 Craniosynostosis 3, 615314 (3), Autosomal dominant Tcf12 (MGI:101877)
chr15 57376457 57550726 15q21.2-q21.3 15q21.3 607856 CGNL1, FLJ14957, KIAA1749 Cingulin-like 1 CGNL1 84952 ENSG00000128849 Cgnl1 (MGI:1915428)
chr15 57591903 57685363 15q21.3-q22.1 15q21.3 614071 GUP, GCOM1, MYOZAP GRINL1A complex locus upstream gene MYZAP 100820829 ENSG00000263155 Myzap (MGI:2142908)
chr15 57706520 57717556 15q22.1 15q21.3 606485 POLR2M, GDOWN, GRINL1A Polymerase II, RNA, subunit M POLR2M 81488 ENSG00000255529 Polr2m (MGI:107282)
chr15 57953423 58065922 15q21.3 15q21.3 603687 ALDH1A2, RALDH2 Aldehyde dehydrogenase 1 family, member A2 (retinaldehyde dehydrogenase 2) ALDH1A2 8854 ENSG00000128918 Aldh1a2 (MGI:107928)
chr15 58138168 58185910 15q22 15q21.3 602914 AQP9 Aquaporin 9 AQP9 366 ENSG00000103569 Aqp9 (MGI:1891066)
chr15 58410456 58568951 15q21.3 15q21.3 151670 LIPC, HL, LIPH, HDLCQ12 Lipase C, hepatic LIPC 3990 ENSG00000166035 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Hepatic lipase deficiency, 614025 (3), Autosomal recessive; [High density lipoprotein cholesterol level QTL 12], 612797 (3) Lipc (MGI:96216)
chr15 58595203 58749977 15q21.3 15q21.3 602192 ADAM10, MADM, RAK, AD18 A disintegrin and metalloprotease domain 10 ADAM10 102 ENSG00000137845 {Alzheimer disease 18, susceptibility to}, 615590 (3); Reticulate acropigmentation of Kitamura, 615537 (3), Autosomal dominant Adam10 (MGI:109548)
chr15 58800000 78000000 15q22-q24 611274 GLC1N Glaucoma 1, open angle, N GLC1N 777645 max lod at D15S125 Glaucoma 1, open angle, N, 611274 (2)
chr15 58800000 72400000 15q22-q23 612632 USH1H Usher syndrome, type 1H USH1H 100271837 max lod at D15S980 Usher syndrome, type 1H, 612632 (2)
chr15 58987587 59097418 15q22.1-q22.2 15q22.1-q22.2 605840 RNF111 Ring finger protein 111 RNF111 54778 ENSG00000157450 Rnf111 (MGI:1934919)
chr15 59105084 59125044 15q22.2 15q22.2 602755 CCNB2 Cyclin B2 CCNB2 9133 ENSG00000157456 Ccnb2 (MGI:88311)
chr15 59135968 59372871 15q21-q22 15q22.2 601479 MYO1E, MYO1C, FSGS6 Myosin IE MYO1E 4643 ENSG00000157483 Glomerulosclerosis, focal segmental, 6, 614131 (3), Autosomal recessive Myo1e (MGI:106621)
chr15 59611782 59620010 15q21.3 15q22.2 606836 GCNT3 Glucosaminyl (N-acetyl) transferase 3, mucin-type GCNT3 9245 ENSG00000140297 Gcnt3 (MGI:1919327)
chr15 59638061 59657540 15q22.2 15q22.2 600519 GTF2A2, TF2A2 General transcription factor IIA, gamma subunit GTF2A2 2958 ENSG00000140307 pseudogenes on chr. 1, 8, 9 Gtf2a2 (MGI:1933289)
chr15 59659145 59689533 15q22.2 15q22.2 603292 BNIP2, NIP2 BCL2/adenovirus E1B 19kD protein-interacting protein 2 BNIP2 663 ENSG00000140299 Bnip2 (MGI:109327)
chr15 60347150 60398024 15q21-q22 15q22.2 151740 ANXA2, ANX2L4, LPC2D, LIP2 Annexin A2 (lipocortin I) ANXA2 302 ENSG00000182718 pseudogenes ANX2P1 on 4q21-q31; ANX2P2 on 9p13; ANX2P3 on 10q24-q22 Anxa2 (MGI:88246)
chr15 60419608 60479159 15q21.3 15q22.2 610835 NARG2 NMDA receptor-regulated 2 ICE2 79664 ENSG00000128915 pseudogenes on chr.4 and chr.3 Ice2 (MGI:2135947)
chr15 60488283 61229302 15q21-q22 15q22.2 600825 RORA RAR-related orphan receptor A RORA 6095 ENSG00000069667 Rora (MGI:104661)
chr15 61852388 62060464 15q22.1 15q22.2 608879 VPS13C, KIAA1421, PARK23 Vacuolar protein sorting 13, yeast, homolog of, C VPS13C 54832 ENSG00000129003 Parkinson disease 23, autosomal recessive, early onset, 616840 (3), Autosomal recessive Vps13c (MGI:2444207)
chr15 62066976 62070916 15q21.3 15q22.2 610343 C2CD4A, NLF1 C2 calcium-dependent domain containing 4A C2CD4A 145741 ENSG00000198535 C2cd4a (MGI:3645763)
chr15 62163534 62165731 15q21.3 15q22.2 610344 C2CD4B, NLF2 C2 calcium-dependent domain containing 4B C2CD4B 388125 ENSG00000205502 C2cd4b (MGI:1922947)
chr15 62390522 62844630 15q22.2 15q22.2 607349 TLN2, KIAA0320 Talin 2 TLN2 83660 ENSG00000171914 Tln2 (MGI:1917799)
chr15 62823956 62824040 15q22.2 15q22.2 615845 MIR190A Micro RNA 190A MIR190A 406965
chr15 63042638 63071914 15q22.1 15q22.2 191010 TPM1, CMH3, CMD1Y , LVNC9 Tropomyosin 1, alpha TPM1 7168 ENSG00000140416 Cardiomyopathy, dilated, 1Y, 611878 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 3, 115196 (3), Autosomal dominant; Left ventricular noncompaction 9, 611878 (3), Autosomal dominant
chr15 63121799 63142064 15q22.1 15q22.2 608440 LACTB Lactamase, beta LACTB 114294 ENSG00000103642 Lactb (MGI:1933395)
chr15 63153339 63157541 15q22.2 15q22.2 612055 RPS27L Ribosomal protein S27-like RPS27L 51065 ENSG00000185088 Rps27l (MGI:1915191)
chr15 63189528 63267775 15q22.2 15q22.2 613532 RAB8B Ras-associated protein RAB8B RAB8B 51762 ENSG00000166128 Rab8b (MGI:2442982)
chr15 63277549 63309125 15q22.2 15q22.2 607630 APH1B Anterior pharynx defective 1, C. elegans, homolog of, B APH1B 83464 ENSG00000138613 Aph1b (MGI:3522097)
chr15 63321377 63382165 15q22 15q22.2 603263 CA12 Carbonic anhydrase XII CA12 771 ENSG00000074410 Hyperchlorhidrosis, isolated, 143860 (3), Autosomal recessive Car12 (MGI:1923709)
chr15 63504510 63594639 15q22.3 15q22.31 604728 USP3 Ubiquitin-specific protease 3 USP3 9960 ENSG00000140455 Usp3 (MGI:2152450)
chr15 63594793 63603431 15q22.1 15q22.31 609088 FBXL22, FBL22 F-box and leucine-rich repeat protein 22 FBXL22 283807 ENSG00000197361
chr15 63608617 63833947 15q22.31 15q22.31 605109 HERC1, MDFPMR HECT domain and RCC1-like domain 1 HERC1 8925 ENSG00000103657 Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3), Autosomal recessive Herc1 (MGI:2384589)
chr15 63907035 64046469 15q22.31 15q22.31 616567 DAPK2, DRP1 Death-associated protein kinase 2 DAPK2 23604 ENSG00000035664 Dapk2 (MGI:1341297)
chr15 64094065 64144233 15q22.3 15q22.31 601272 SNX1, SNX1A Sorting nexin 1 SNX1 6642 ENSG00000028528 Snx1 (MGI:1928395)
chr15 64155814 64163154 15q21-q22 15q22.31 123841 PPIB, CYPB, OI9 Peptidyl-prolyl isomerase B PPIB 5479 ENSG00000166794 Osteogenesis imperfecta, type IX, 259440 (3), Autosomal recessive Ppib (MGI:97750)
chr15 64165516 64356258 15q22.1-q22.31 15q22.31 606274 CSNK1G1 Casein kinase I, gamma-1 CSNK1G1 53944 ENSG00000169118 Csnk1g1 (MGI:2660884)
chr15 64364993 64387686 15q22.1 15q22.31 610696 PAF, OEATC1, KIAA0101 PCNA-associated factor, 15kD PCLAF 9768 ENSG00000166803 Pclaf (MGI:1915276)
chr15 64387803 64455302 15q22.31 15q22.31 604501 TRIP4, ASC1, SMABF1, MDCDC Thyroid hormone receptor interactor 4 TRIP4 9325 ENSG00000103671 mutation identified in 1 MDCDC family ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3), Autosomal recessive; Spinal muscular atrophy with congenital bone fractures 1, 616866 (3), Autosomal recessive Trip4 (MGI:1928469)
chr15 64460349 64686067 15q22.31 15q22.31 617474 ZNF609, KIAA0295 Zinc finger ptoein 609 ZNF609 23060 ENSG00000180357 Zfp609 (MGI:2674092)
chr15 64687573 64703280 15q22.31 15q22.31 604152 OAZ2 Ornithine decarboxylase antizyme 2 OAZ2 4947 ENSG00000180304 Oaz2 (MGI:109492)
chr15 64815629 64827172 15q22.31 15q22.31 610953 PIF1, PIF Pif1, S. cerevisiae, homolog of PIF1 80119 ENSG00000140451 Pif1 (MGI:2143057)
chr15 64963020 64989945 15q21-q22 15q22.31 608181 ACP33, MAST, SPG21 Acidic cluster protein, 33kD, (maspardin) SPG21 51324 ENSG00000090487 Mast syndrome, 248900 (3), Autosomal recessive Spg21 (MGI:106403)
chr15 65001511 65029638 15q22.31 15q22.31 611766 MTFMT, COXPD15 Mitochondrial methionyl-tRNA formyltransferase MTFMT 123263 ENSG00000103707 Combined oxidative phosphorylation deficiency 15, 614947 (3), Autosomal recessive Mtfmt (MGI:1916856)
chr15 65045369 65053396 15q21 15q22.31 612085 OSTB Organic solute transporter, beta SLC51B 123264 ENSG00000186198 Slc51b (MGI:3582052)
chr15 65076815 65079937 15q22.31 15q22.31 613727 KBTBD13, NEM6 Kelch repeat and BTB/POZ domains-containing protein 13 KBTBD13 390594 ENSG00000234438 Nemaline myopathy 6, autosomal dominant, 609273 (3), Autosomal dominant Kbtbd13 (MGI:1921742)
chr15 65117378 65133835 15q22.31 15q22.31 608138 PDCD7 Programmed cell death 7 PDCD7 10081 ENSG00000090470 Pdcd7 (MGI:1859170)
chr15 65148218 65185419 15q22.31 15q22.31 615611 CLPX Caseinolytic mitochondrial matrix peptidase chaperone subunit CLPX 10845 ENSG00000166855 Clpx (MGI:1346017)
chr15 65195998 65213141 15q22 15q22.31 603489 CILP Cartilage intermediate layer protein CILP 8483 {Lumbar disc disease, susceptibility to}, 603932 (3) Cilp (MGI:2444507)
chr15 65296050 65296166 15q22.31 15q22.31 180691 RNU5A, RNU5 RNA, U5A small nuclear RNU5A-1 26831
chr15 65327126 65378039 15q22.3-q23 15q22.31 604184 PUNC Putative neuronal cell adhesion molecule IGDCC3 9543 ENSG00000174498 Igdcc3 (MGI:1202390)
chr15 65381483 65423071 15q22.31 15q22.31 616810 IGDCC4, NOPE, KIAA1628 Immunoglobulin superfamily, DCC subclass, member 4 IGDCC4 57722 ENSG00000103742 Igdcc4 (MGI:1858497)
chr15 65442462 65517712 15q22 15q22.31 606819 DPP8 Dipeptidyl peptidase 8 DPP8 54878 ENSG00000074603 Dpp8 (MGI:1921638)
chr15 65530488 65578354 15q22.31 15q22.31 615940 PTPLAD1, BIND1, HACD3 Protein tyrosine phosphatase-like A domain-containing protein 1 HACD3 51495 ENSG00000074696 Hacd3 (MGI:1889341)
chr15 65611312 65660994 15q22 15q22.31 603617 SLC24A1, NCKX1, CSNB1D Solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 SLC24A1 9187 ENSG00000074621 Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3), Autosomal recessive Slc24a1 (MGI:2384871)
chr15 65655233 65792292 15q22.31 15q22.31 600382 DENND4A DENN/MADD domain containing 4A DENND4A 10260 ENSG00000174485 Dennd4a (MGI:2142979)
chr15 65869458 65891990 15q21.3-q22.31 15q22.31 605570 RAB11A Ras family, member RAB11A RAB11A 8766 ENSG00000103769 Rab11a (MGI:1858202)
chr15 65889716 66253736 15q22.31 15q22.31 612454 MEGF11, KIAA1781 Multiple epidermal growth factor-like domains 11 MEGF11 84465 ENSG00000157890 Megf11 (MGI:1920951)
chr15 66293256 66333897 15q22.31 15q22.31 614183 DIS3L, DIS3L1, KIAA1955 Dis3 mitotic control, S. cerevisiae, homolog-like DIS3L 115752 ENSG00000166938 Dis3l (MGI:2143272)
chr15 66334973 66387272 15q22.3 15q22.31 610716 TIPIN Timeless-interacting protein TIPIN 54962 ENSG00000075131 Tipin (MGI:1921571)
chr15 66386872 66491543 15q21 15q22.31 176872 MAP2K1, PRKMK1, MKK1, MEK1, CFC3 Mitogen-activated protein kinase kinase 1 MAP2K1 5604 ENSG00000169032 pseudogene on 8p21 Cardiofaciocutaneous syndrome 3, 615279 (3) Map2k1 (MGI:1346866)
chr15 66489747 66497814 15q22.31 15q22.31 605979 SNAPC5, SNAP19 Small nuclear RNA-activating protein complex, polypeptide 5 SNAPC5 10302 ENSG00000174446 Snapc5 (MGI:1914282)
chr15 66499314 66504854 15q 15q22.31 180479 RPL4 Ribosomal protein L4 RPL4 6124 ENSG00000174444 Rpl4 (MGI:1915141)
chr15 66505082 66549484 15q22.3 15q22.31 609984 ZWILCH Zwilch, Drosophila, homolog of ZWILCH 55055 ENSG00000174442 Zwilch (MGI:1915264)
chr15 66547467 66565978 15q22.31 15q22.31 617060 LCTL, KLG, KLPH Lactase-like protein LCTL 197021 ENSG00000188501 Lctl (MGI:2183549)
chr15 66702109 66781999 15q21-q22 15q22.31 602931 SMAD6, MADH6, AOVD2 Mothers against decapentaplegic, Drosophila, homolog of, 6 SMAD6 4091 ENSG00000137834 Aortic valve disease 2, 614823 (3), Autosomal dominant; {Craniosynostosis 7, susceptibility to}, 617439 (3), Autosomal dominant Smad6 (MGI:1336883)
chr15 66900000 67000000 15q22.32 612579 STQTL16 Stature quantitative trait locus 16 100270802 associated with rs8038652 {Stature QTL 16}, 612579 (2)
chr15 67065856 67195194 15q22.3 15q22.33 603109 SMAD3, MADH3, LDS3 Mothers against decapentaplegic, Drosophila, homolog of, 3 SMAD3 4088 ENSG00000166949 Loeys-Dietz syndrome 3, 613795 (3), Autosomal dominant Smad3 (MGI:1201674)
chr15 67200000 101991189 15q23-q26.3 607248 GLM4 Glioma susceptibility 4 338030 max lod at D15S130 {Glioma susceptibility 4}, 607248 (2)
chr15 67200674 67255197 15q22.33-q23 15q23 614888 AAGAB, p34, PPKP1A, PPKP1, KPPP1 Alpha- and gamma-adaptin-binding protein AAGAB 79719 ENSG00000103591 Keratoderma, palmoplantar, punctate type IA, 148600 (3), Autosomal dominant Aagab (MGI:1914189)
chr15 67254771 67501803 15q22.31 15q23 612523 IQCH, NYDSP5 IQ motif-containing protein H IQCH 64799 ENSG00000103599 Iqch (MGI:1925500)
chr15 67542682 67807116 15q23 15q23 602520 MAP2K5, PRKMK5, MEK5, MAPKK5 Mitogen-activated protein kinase kinase 5 MAP2K5 5607 ENSG00000137764 Map2k5 (MGI:1346345)
chr15 67819703 67834560 15q23 15q23 611273 LBXCOR1, CORL1 LBX1 corepressor 1, mouse, homolog of SKOR1 390598 ENSG00000188779
chr15 67839939 67840044 15q23 15q23 180692 RNU6-1, RNU6A, RNU6 RNA, U6 small nuclear 1 RNU6-1 26827
chr15 68054178 68191463 15q22 15q23 603566 PIAS1, DDXBP1, GBP protein inhibitor of activated STAT, 1 PIAS1 8554 ENSG00000033800 Pias1 (MGI:1913125)
chr15 68206991 68229741 15q21-q23 15q23 606725 CLN6, CLN4A CLN6 gene CLN6 54982 ENSG00000128973 Ceroid lipofuscinosis, neuronal, 6, 601780 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3), Autosomal recessive Cln6 (MGI:2159324)
chr15 68277802 68295864 15q23 15q23 613539 FEM1B, KIAA0396 Fem1, C. elegans, homolog of, B FEM1B 10116 ENSG00000169018 Fem1b (MGI:1335087)
chr15 68297432 68432311 15q23 15q23 604789 ITGA11 Integrin, alpha-11 ITGA11 22801 ENSG00000137809 Itga11 (MGI:2442114)
chr15 68518372 68727805 15q23 15q23 605002 CORO2B, CLIPINC Coronin 2B CORO2B 10391 ENSG00000103647 Coro2b (MGI:2444283)
chr15 68778534 68820921 15q22.3-q23 15q23 600832 ANP32A, PHAP1 Acidic (leucine-rich) nuclear phosphoprotein 32 family, member A ANP32A 8125 ENSG00000140350
chr15 68930499 69057160 15q23 15q23 606572 NOX5 NADPH oxidase 5 NOX5 79400 ENSG00000255346
chr15 68930499 68946810 15q22 15q23 609399 SPESP1 Sperm equatorial segment protein 1 SPESP1 246777 ENSG00000258484 Spesp1 (MGI:1913962)
chr15 69080849 69095823 15q23 15q23 616492 EWSAT1, LINC00277 Ewing sarcoma-associated transcript 1, noncoding EWSAT1 283673
chr15 69160554 69272208 15q23 15q23 612134 GLCE, HSEPI, KIAA0836 Glucuronic acid epimerase GLCE 26035 ENSG00000138604 Glce (MGI:2136405)
chr15 69284133 69407636 15q23 15q23 607781 PAQR5, MPRG Progestin and ADIPOQ receptor family, member 5 PAQR5 54852 ENSG00000137819 Paqr5 (MGI:1921340)
chr15 69414245 69448426 15q23 15q23 605064 KIF23, KNSL5, MKLP1 Kinesin family member 23 KIF23 9493 ENSG00000137807 Kif23 (MGI:1919069)
chr15 69452819 69455544 Chr.15 15q23 180520 RPLP1 Ribosomal phosphoprotein, Large, P1 RPLP1 6176 ENSG00000137818
chr15 69561719 69571439 15q23 15q23 616387 DRAIC Downregulated RNA in androgen-independent cells, noncoding DRAIC 145837
chr15 69592199 69695749 15q23 15q23 616273 PCAT29 Prostate cancer-associated transcript 29, noncoding PCAT29 104472713
chr15 70047789 70098170 15q22 15q23 600190 TLE3, ESG Transducin-like enhancer of split 3, homolog of Drosophila a E(spl) TLE3 7090 ENSG00000140332 Tle3 (MGI:104634)
chr15 70654553 70778822 15q24 15q23 612516 UACA, NUCLING Uveal autoantigen with coiled-coil domains and ankyrin repeats UACA 55075 ENSG00000137831 Uaca (MGI:1919815)
chr15 70831523 70854264 15q23 15q23 611300 LARP6, ACHN La ribonucleoprotein domain family, member 6 LARP6 55323 ENSG00000166173 Larp6 (MGI:1914807)
chr15 70881341 70892432 15q23 15q23 612538 THAP10 THAP domain-containing protein 10 THAP10 56906 ENSG00000129028
chr15 71115615 71783382 15q23 15q23 614476 THSD4, ADAMTSL6 Thrombospondin type-1 domain-containing 4 THSD4 79875 ENSG00000187720 Thsd4 (MGI:2672033)
chr15 71810547 71818258 15q23 15q23 604485 NR2E3, PNR, ESCS, RP37 Nuclear receptor subfamily 2, group E, member 3 NR2E3 10002 ENSG00000278570 near BBS4 Enhanced S-cone syndrome, 268100 (3), Autosomal recessive; Retinitis pigmentosa 37, 611131 (3), Autosomal recessive, Autosomal dominant Nr2e3 (MGI:1346317)
chr15 71822290 72118576 15q22-q23 15q23 604875 MYO9A Myosin IXa MYO9A 4649 ENSG00000066933 Myo9a (MGI:107735)
chr15 72114257 72143687 15q23 15q23 608659 SENP8, NEDP1, DEN1 Sentrin-specific protease family, member 8 SENP8 123228 ENSG00000166192 Senp8 (MGI:1918849)
chr15 72199028 72231623 15q22 15q23 179050 PKM, PKM2, PK3, THBP1 Pyruvate kinase, muscle PKM 5315 ENSG00000067225 Pkm (MGI:97591)
chr15 72284726 72320183 15q24 15q23 612681 CELF6, BRUNOL6 CUGbp- and ELAV-like family, member 6 CELF6 60677 ENSG00000140488
chr15 72343434 72376472 15q23-q24 15q23 606869 HEXA, TSD Hexosaminidase A, alpha polypeptide HEXA 3073 ENSG00000213614 on 15q+ in APL GM2-gangliosidosis, several forms, 272800 (3), Autosomal recessive; [Hex A pseudodeficiency], 272800 (3), Autosomal recessive; Tay-Sachs disease, 272800 (3), Autosomal recessive Hexa (MGI:96073)
chr15 72400000 88500000 15q24-q25 612274 CILD8 Ciliary dyskinesia, primary, 8 100190786 max lod at D15S154 Ciliary dyskinesia, primary, 8, 612274 (2)
chr15 72400000 78000000 15q24 603204 ENFL2 Epilepsy, nocturnal frontal lobe, type 2 50971 some ENFL not on 20q or 15q Epilepsy, nocturnal frontal lobe, type 2, 603204 (2), Autosomal dominant
chr15 72400000 78000000 15q24 602685 MRST Mental retardation, severe, with spasticity and tapetoretinal degeneration 8126 Mental retardation, severe, with spasticity and tapetoretinal degeneration, 602685 (2)
chr15 72474325 72586554 15q24 15q24.1 605624 ARIH1, ARI, UBCH7BP Ariadne, Drosophila, homolog of, 1 ARIH1 25820 ENSG00000166233 Arih1 (MGI:1344363)
chr15 72686178 72738475 15q22.3-q23 15q24.1 600374 BBS4 BBS4 gene BBS4 585 ENSG00000140463 Bardet-Biedl syndrome 4, 615982 (3), Autosomal recessive Bbs4 (MGI:2143311)
chr15 72751366 72783784 15q24.1 15q24.1 611861 ADPGK ADP-dependent glucokinase ADPGK 83440 ENSG00000159322 Adpgk (MGI:1919391)
chr15 73051714 73305205 15q22.3-q23 15q24.1 601907 NEO1, NGN Neogenin, chicken, homolog of, 1 NEO1 4756 ENSG00000067141 Neo1 (MGI:1097159)
chr15 73319858 73369263 15q24-q25 15q24.1 605206 HCN4, SSS2 Hyperpolarization-activated cyclic nucleotide-gated potassium channel 4 HCN4 10021 ENSG00000138622 Brugada syndrome 8, 613123 (3); Sick sinus syndrome 2, 163800 (3), Autosomal dominant Hcn4 (MGI:1298209)
chr15 73560002 73633411 15q24.1 15q24.1 612820 NPTN, SDFR1, GP55, NP55, GP65, NP65 Neuroplastin NPTN 27020 ENSG00000156642
chr15 73566937 73569542 15q24.1 15q24.1 615176 NPTNIT1 NPTN intronic transcript 1, noncoding NPTN-IT1 101241892
chr15 73683965 73714517 15q23-q24 15q24.1 605715 CD276, B7H3 CD276 molecule CD276 80381 ENSG00000103855 Cd276 (MGI:2183926)
chr15 73735430 73753169 15q24.1 15q24.1 617128 C15orf59, INSYN1 Chromosome 15 open reading frame 59 C15orf59 388135 ENSG00000205363 6030419C18Rik (MGI:2442108)
chr15 73917467 73928247 15q24.1 15q24.1 616800 LOXL1AS1 LOXL1 antisense RNA 1 LOXL1-AS1 100287616
chr15 73926457 73952140 15q24.1 15q24.1 153456 LOXL1, LOXL Lysyl oxidase-like 1 LOXL1 4016 ENSG00000129038 {Exfoliation syndrome, susceptibility to}, 177650 (3), Autosomal dominant Loxl1 (MGI:106096)
chr15 73983217 73994635 15q22 15q24.1 608326 STOML1, STORP Stomatin-like protein 1 STOML1 9399 ENSG00000067221 Stoml1 (MGI:1916356)
chr15 73994672 74047818 15q22 15q24.1 102578 PML, MYL Promyelocytic leukemia, inducer of PML 5371 ENSG00000140464 fused with RARA in APL Leukemia, acute promyelocytic, PML/RARA type (3) Pml (MGI:104662)
chr15 74069856 74082549 15q22 15q24.1 610288 GOLGA6, GLP Golgi autoantigen, golgin subfamily A, 6 GOLGA6A 342096 ENSG00000159289
chr15 74100313 74141825 15q24.1 15q24.1 614179 ISLR2, LINX, KIAA1464 Immunoglobulin superfamily containing leucine-rich repeat 2 ISLR2 57611 ENSG00000167178 Islr2 (MGI:2444277)
chr15 74173745 74176870 15q23-q24 15q24.1 602059 ISLR Immunoglobulin superfamily containing leucine-rich repeat ISLR 3671 ENSG00000129009 Islr (MGI:1349645)
chr15 74179465 74212266 15q24.1 15q24.1 610745 STRA6, MCOPS9, MCOPCB8 Stimulated by retinoic acid 6, mouse, homolog of STRA6 64220 ENSG00000137868 Microphthalmia, isolated, with coloboma 8, 601186 (3), Autosomal recessive; Microphthalmia, syndromic 9, 601186 (3), Autosomal recessive Stra6 (MGI:107742)
chr15 74337761 74367739 15q24.1 15q24.1 118485 CYP11A1, P450SCC Cytochrome P450, subfamily XIA, polypeptide 1 (cholesterol side chain cleavage enzyme) CYP11A1 1583 ENSG00000140459 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) Cyp11a1 (MGI:88582)
chr15 74409283 74433958 15q24.1 15q24.1 607961 SEMA7A, SEMAL, SEMAK1, CDW108, JMH Semaphorin 7A SEMA7A 8482 ENSG00000138623 [Blood group, John-Milton-Hagen system], 614745 (3) Sema7a (MGI:1306826)
chr15 74445976 74461828 15q22.3-q23 15q24.1 609748 UBL7 Ubiquitin-like 7 UBL7 84993 ENSG00000138629 Ubl7 (MGI:1916709)
chr15 74541176 74598130 15q24 15q24.1 612457 ARID3B, DRIL2, BDP AT-rich interactive domain-containing protein 3B ARID3B 10620 ENSG00000179361 Arid3b (MGI:1930768)
chr15 74598475 74645417 15q24 15q24.1 602990 CLK3 CDC-like kinase 3 CLK3 1198 ENSG00000179335 Clk3 (MGI:1098670)
chr15 74630557 74696433 15q24.1 15q24.1 609842 EDC3, YJDC, MRT50 Enhancer of mRNA decapping 3, S. cerevisiae, homolog of EDC3 80153 ENSG00000179151 mutation identified in 1 MRT50 family ?Mental retardation, autosomal recessive 50, 616460 (3), Autosomal recessive Edc3 (MGI:2142951)
chr15 74719541 74725609 15q24.1 15q24.1 108330 CYP1A1, CYP1 Cytochrome P450, subfamily I, aromatic compound-inducible, polypeptide 1 CYP1A1 1543 ENSG00000140465 head-to-head with CYP1A2 Cyp1a1 (MGI:88588)
chr15 74748842 74756599 15q24.1 15q24.1 124060 CYP1A2 Cytochrome P450, subfamily I, aromatic compound-inducible, polypeptide 2 CYP1A2 1544 ENSG00000140505 23.3kb from CYP1A1 Cyp1a2 (MGI:88589)
chr15 74782083 74803197 15q23-q25 15q24.1 124095 CSK c-src tyrosine kinase CSK 1445 ENSG00000103653 Csk (MGI:88537)
chr15 74836115 74843210 15q24.1 15q24.1 613472 ULK3 UNC51-like kinase 3 ULK3 25989 ENSG00000140474 Ulk3 (MGI:1918992)
chr15 74843729 74873378 Chr.15 15q24.1 606912 SCAMP2 Secretory carrier membrane protein 2 SCAMP2 10066 ENSG00000140497 Scamp2 (MGI:1346518)
chr15 74890004 74899456 15q22-qter 15q24.1 154550 MPI, PMI1, CDG1B Mannosephosphate isomerase (phosphomannose isomerase 1) MPI 4351 ENSG00000178802 Congenital disorder of glycosylation, type Ib, 602579 (3), Autosomal recessive Mpi (MGI:97075)
chr15 74920274 74938153 15q25 15q24.2 603773 COX5A Cytochrome C oxidase, subunit Va COX5A 9377 ENSG00000178741 pseudogene on 14q22 Cox5a (MGI:88474)
chr15 74995534 75021494 15q23 15q24.2 613766 SCAMP5 Secretory carrier membrane protein 5 SCAMP5 192683 ENSG00000198794 Scamp5 (MGI:1928948)
chr15 75023543 75060179 15q24.2 15q24.2 609854 PPCDC Phosphopantothenoylcysteine decarboxylase PPCDC 60490 ENSG00000138621 Ppcdc (MGI:1914062)
chr15 75335995 75341926 15q24.2 15q24.2 616701 COMMD4 COMM domain-containing protein 4 COMMD4 54939 ENSG00000140365 Commd4 (MGI:1913449)
chr15 75346637 75355250 15q24.2 15q24.2 608844 NEIL1, NEI1, FPG1 Endonuclease VIII-like 1 NEIL1 79661 ENSG00000140398 Neil1 (MGI:1920024)
chr15 75354325 75368679 15q11-q13 15q24.2 154580 MAN2C1, MANA Mannosidase, alpha, class 2C, member 1 MAN2C1 4123 ENSG00000140400 Man2c1 (MGI:1920994)
chr15 75369378 75455818 15q24 15q24.2 607776 SIN3A, WITKOS Sin3, yeast, homolog of, A SIN3A 25942 ENSG00000169375 Witteveen-Kolk syndrome, 613406 (3), Autosomal dominant Sin3a (MGI:107157)
chr15 75467120 75579290 15q24.2 15q24.2 600768 PTPN9 Protein-tyrosine phosphatase, nonreceptor-type, 9 PTPN9 5780 ENSG00000169410 Ptpn9 (MGI:1928376)
chr15 75639084 75640322 15q24 15q24.2 612980 IMP3, MRPS4, BRMS2 Imp3, S. cerevisiae, homolog of IMP3 55272 ENSG00000177971 Imp3 (MGI:1916119)
chr15 75674321 75712847 15q24.2 15q24.2 601172 CSPG4, MCSPG, MSK16, NG2 Chondroitin sulfate proteoglycan CSPG4 1464 ENSG00000173546 Cspg4 (MGI:2153093)
chr15 75843285 75901046 15q23 15q24.2 612501 UBE2Q2, LOC92912 Ubiquitin-conjugating enzyme E2Q 2 UBE2Q2 92912 ENSG00000140367 Ube2q2 (MGI:2388672)
chr15 75903858 75935267 15q23 15q24.2 609096 FBXO22, FBX22 F-box only protein 22 FBXO22 26263 ENSG00000167196 Fbxo22 (MGI:1926014)
chr15 75933218 76069829 15q24.1 15q24.2 610894 NRG4, HRG4 Neuregulin 4 NRG4 145957 ENSG00000169752 Nrg4 (MGI:1933833)
chr15 76216227 76311468 15q23-q25 15q24.2-q24.3 608053 ETFA, GA2, MADD Electron transfer flavoprotein, alpha polypeptide ETFA 2108 ENSG00000140374 Glutaric acidemia IIA, 231680 (3), Autosomal recessive Etfa (MGI:106092)
chr15 76348184 76905456 15q24 15q24.3 611611 SCAPER, KIAA1454 S-phase cyclin A-associated protein in the endoplasmic reticulum SCAPER 49855 ENSG00000140386 Scaper (MGI:1925976)
chr15 76931620 76950259 15q23 15q24.3 602584 RCN2, ERC55 Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD) RCN2 5955 ENSG00000117906 Rcn2 (MGI:1349765)
chr15 76994679 77037474 15q24-q25.1 15q24.3 606347 PSTPIP1, PSTPIP, CD2BP1, PAPAS Proline-serine-threonine phosphatase-interacting protein 1 PSTPIP1 9051 ENSG00000140368 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3), Autosomal dominant Pstpip1 (MGI:1321396)
chr15 77044016 77071227 15q24.3 15q24.3 613134 TSPAN3 Tetraspanin 3 TSPAN3 10099 ENSG00000140391 Tspan3 (MGI:1928098)
chr15 77100828 77420698 15q24.3 15q24.3 614248 PEAK1, KIAA2002 Pseudopodium-enriched atypical kinase 1 PEAK1 79834 ENSG00000173517 Peak1 (MGI:2442366)
chr15 77420650 77519898 15q24 15q24.3 605534 HMG20A High mobility group protein 20A HMG20A 10363 ENSG00000140382 Hmg20a (MGI:1914117)
chr15 77613023 77820899 15q24 15q24.3 609791 LRRN6A, LERN1, LINGO1 Leucine-rich repeat protein, neuronal, 6A LINGO1 84894 ENSG00000169783 Lingo1 (MGI:1915522)
chr15 78000000 88500000 15q25 614294 DEL15q25, C15DELq25 Chromosome 15q25 deletion syndrome chr15:82,889,423-83,552,890, NCBI36 Chromosome 15q25 deletion syndrome, 614294 (4), Autosomal dominant
chr15 78000000 101991189 15q25-q26 606451 DFNA30 Deafness, autosomal dominant 30 DFNA30 23719 Deafness, autosomal dominant 30, 606451 (2), Autosomal dominant
chr15 78000000 93800000 15q25.1-q26.1 607728 POROK4, DSAP2 Porokeratosis 4, disseminated superficial actinic 353147 between D15S1023 and D15S1030 Porokeratosis 4, disseminated superficial actinic, 607728 (2)
chr15 78104605 78131975 15q24 15q25.1 605564 CIB2, KIP2 Calcium- and integrin-binding protein 2 CIB2 10518 ENSG00000136425 Deafness, autosomal recessive 48, 609439 (3), Autosomal recessive; Usher syndrome, type IJ, 614869 (3), Autosomal recessive Cib2 (MGI:1929293)
chr15 78149361 78170541 15q25.1-q25.2 15q25.1 601149 IDH3A Isocitrate dehydrogenase 3 (NAD+) alpha IDH3A 3419 ENSG00000166411 Idh3a (MGI:1915084)
chr15 78167467 78234706 12q23-q24 15q25.1 614362 ACSBG1, BG, BG1, KIAA0631 Acyl-CoA synthetase, bubble gum family, member 1 ACSBG1 23205 ENSG00000103740 Acsbg1 (MGI:2385656)
chr15 78340323 78348229 15q24 15q25.1 180230 CRABP1, RBP5 Cellular retinoic acid-binding protein-1 CRABP1 1381 ENSG00000166426 distal to APL breakpoint Crabp1 (MGI:88490)
chr15 78437430 78501455 15q25.1 15q25.1 147582 IREB2 Iron-responsive element-binding protein-2 IREB2 3658 ENSG00000136381 Ireb2 (MGI:1928268)
chr15 78507563 78537372 15q25.1 15q25.1 614681 AGPHD1 Aminoglycoside phosphotransferase domain-containing protein 1 HYKK 123688 ENSG00000188266 Hykk (MGI:2443139)
chr15 78540404 78549261 15q25.1 15q25.1 176846 PSMA4, PSC9, HC9 Proteasome subunit, alpha-type, 4 PSMA4 5685 ENSG00000041357 Psma4 (MGI:1347060)
chr15 78565519 78595268 15q25.1 15q25.1 118505 CHRNA5, LNCR2 Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5 CHRNA5 1138 ENSG00000169684 {Lung cancer susceptibility 2}, 612052 (3); {Nicotine dependence, susceptibility to}, 612052 (3) Chrna5 (MGI:87889)
chr15 78593051 78621294 15q25.1 15q25.1 118503 CHRNA3, LNCR2, PAOD2 Cholinergic receptor, neuronal nicotinic, alpha polypeptide-3 CHRNA3 1136 ENSG00000080644 {Lung cancer susceptibility 2}, 612052 (3) Chrna3 (MGI:87887)
chr15 78623281 78655585 15q24 15q25.1 118509 CHRNB4 Cholinergic receptor, neuronal nicotinic, beta polypeptide-4 CHRNB4 1143 ENSG00000117971 Chrnb4 (MGI:87892)
chr15 78759202 78811475 15q25.1 15q25.1 605009 ADAMTS7 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 7 ADAMTS7 11173 ENSG00000136378 Adamts7 (MGI:1347346)
chr15 78872780 78897738 15q24 15q25.1 607303 MORF4L1, MRG15 Mortality factor 4-like 1 MORF4L1 10933 ENSG00000185787 Morf4l1 (MGI:1096551)
chr15 78921749 78945097 15q24-q25 15q25.1 116820 CTSH Cathepsin H CTSH 1512 ENSG00000103811 Ctsh (MGI:107285)
chr15 79209787 79209870 15q25.1 15q25.1 613146 MIR184, MIRN184, KTCNCT, EDICT Micro RNA 184 MIR184 406960 EDICT syndrome, 614303 (3), Autosomal dominant
chr15 79843546 79897284 15q25.1 15q25.1 604197 MTHFS 5,10-methenyltetrahydrofolate synthetase MTHFS 10588 ENSG00000136371 Mthfsl,Mthfs (MGI:1340032,MGI:3780550)
chr15 79960889 79971300 15q24.3 15q25.1 601056 BCL2A1 BCL2-related protein A1 BCL2A1 597 ENSG00000140379 Bcl2a1d,Bcl2a1b,Bcl2a1a (MGI:102687,MGI:1278325,MGI:1278326)
chr15 80059567 80138392 15q25.1 15q25.1 610183 ZFAND6, ZA20D3, AWP1 Zinc finger AN1 domain-containing protein 6 ZFAND6 54469 ENSG00000086666 Zfand6 (MGI:1929510)
chr15 80152822 80186581 15q23-q25 15q25.1 613871 FAH Fumarylacetoacetase FAH 2184 ENSG00000103876 Tyrosinemia, type I, 276700 (3), Autosomal recessive Fah (MGI:95482)
chr15 80404349 80597936 15q24 15q25.1 606036 ARNT2, WEDAS Aryl hydrocarbon receptor nuclear translocator 2 ARNT2 9915 ENSG00000172379 mutation identified in 1 WEDAS family ?Webb-Dattani syndrome, 615926 (3), Autosomal recessive Arnt2 (MGI:107188)
chr15 80779342 80951770 15q24 15q25.1 608366 KIAA1199 KIAA1199 gene CEMIP 57214 ENSG00000103888 Cemip (MGI:2443629)
chr15 80947325 80989877 Chr.15 15q25.1 607783 MESDC2, MESD, BOCA, KIAA0081 Mesoderm development candidate gene 2 MESD 23184 ENSG00000117899 Mesd (MGI:1891421)
chr15 81000953 81004003 15q25.1 15q25.1 615466 MESDC1 Mesoderm development candidate 1 TLNRD1 59274 ENSG00000140406 Tlnrd1 (MGI:1891420)
chr15 81196877 81312762 15q26.1 15q25.1 603035 IL16, LCF Interleukin 16 IL16 3603 ENSG00000172349 Il16 (MGI:1270855)
chr15 81312665 81324182 15q26 15q25.1 607050 STARD5 Start domain-containing protein 5 STARD5 80765 ENSG00000172345 Stard5 (MGI:2156765)
chr15 81331104 81374155 15q25.1 15q25.1 617196 TMC3 Transmembrane channel-like protein 3 TMC3 342125 ENSG00000188869 Tmc3 (MGI:2669033)
chr15 82041777 82046142 15q25.2 15q25.2 611008 MEX3B, RKHD3 Mex-3, C. elegans, homolog of, B MEX3B 84206 ENSG00000183496 Mex3b (MGI:1918252)
chr15 82130219 82262762 15q25.2 15q25.2 617538 EFL1, RIA1, EFTUD1, FAM42A Elongation factor-like GTPase 1 EFL1 79631 ENSG00000140598 Efl1 (MGI:2141969)
chr15 82536749 82540563 15q 15q25.2 180472 RPS17, RPS17L1, RPS17L2, DBA4 Ribosomal protein S17 RPS17 6218 ENSG00000182774 previously on chr.11; pseudogenes on 5q33-qter and 17q Diamond-Blackfan anemia 4, 612527 (3), Autosomal dominant Rps17 (MGI:1309526)
chr15 82543200 82648015 15q25.2 15q25.2 607342 CPEB1 Cytoplasmic polyadenylation element-binding protein 1 CPEB1 64506 ENSG00000214575 Cpeb1 (MGI:108442)
chr15 82659280 82709907 15q25.2 15q25.2 602166 AP3B2, NAPTB, EIEE48 Adaptor-related protein complex 3, beta 2 subunit AP3B2 8120 ENSG00000103723 Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive Ap3b2 (MGI:1100869)
chr15 82755944 82756070 15q25.2 15q25.2 612675 SCARNA15, ACA45 Small cajal body-specific RNA 15 SCARNA15 677778
chr15 82809627 82834860 15q25.2 15q25.2 612393 WHAMM, KIAA1971 Was protein homolog associated with actin, golgi membranes, and microtubules WHAMM 123720 ENSG00000156232 Whamm (MGI:2142282)
chr15 82836945 82986175 15q24.3 15q25.2 604799 HOMER2, HOMER2B, HOMER2A, DFNA68 Homer, homolog 2 (Drosophila) HOMER2 9455 ENSG00000103942 mutation identified in 1 DFNA68 family ?Deafness, autosomal dominant 68, 616707 (3), Autosomal dominant Homer2 (MGI:1347354)
chr15 82986202 82991056 15q25.2 15q25.2 614547 FAM103A1, RAM Family with sequence similarity 103, member A1 RAMMET 83640 ENSG00000169612 Fam103a1 (MGI:1914398)
chr15 83107485 83145402 15q24-q26 15q25.2 606562 TM6SF1 Transmembrane 6 superfamily, member 1 TM6SF1 53346 ENSG00000136404 Tm6sf1 (MGI:1933209)
chr15 83112737 83208017 15q25 15q25.2 616643 HRP3, HDGFRP3 Hepatoma-derived growth factor-related protein 3 HDGFL3 50810 ENSG00000166503 Hdgfl3 (MGI:1352760)
chr15 83255883 83284715 15q25.1 15q25.2 601930 BNC1 Basonuclin BNC1 646 ENSG00000169594 Bnc1 (MGI:1097164)
chr15 83447122 83618742 15q24 15q25.2 603362 SH3GL3 SH3-domain GRB2-like 3 SH3GL3 6457 ENSG00000140600 Sh3gl3 (MGI:700011)
chr15 83654085 84039841 15q25.2 15q25.2 609199 ADAMTSL3, KIAA1233 ADAMTS-like protein 3 ADAMTSL3 57188 ENSG00000156218 Adamtsl3 (MGI:3028499)
chr15 84631459 84642462 15q25.2 15q25.2 610417 SCAND2 SCAN domain-containing 2 SCAND2P 54581
chr15 84641494 84654342 15q25.2 15q25.2 616144 WDR73, HSPC264, GAMOS1 WD repeat-containing protein 73 WDR73 84942 ENSG00000177082 Galloway-Mowat syndrome 1, 251300 (3), Autosomal recessive Wdr73 (MGI:1919218)
chr15 84655128 84658610 15q22-qter 15q25.2 162340 NMB Neuromedin B NMB 4828 ENSG00000197696 Nmb (MGI:1915289)
chr15 84700000 93800000 15q25.3-q26.1 609893 CHNG3, RTSH Hypothyroidism, congenital, nongoitrous, 3 780915 max lod at D15S655 Hypothyroidism, congenital, nongoitrous, 3, 609893 (2)
chr15 84700000 98000000 15q25.3-q26.2 608691 MDD2 Major depressive disorder 2 431709 Major depressive disorder 2, 608516 (2)
chr15 84748555 84806431 15q25.3 15q25.3 613624 ZNF592, KIAA0211 Zinc finger protein 592 ZNF592 9640 ENSG00000166716 Zfp592 (MGI:2443541)
chr15 84816679 84873481 15q25.2 15q25.3 617608 ALPK3, MIDORI, KIAA1330 Alpha kinase 3 ALPK3 57538 ENSG00000136383 Alpk3 (MGI:2151224)
chr15 84884349 84975648 15q25-q26 15q25.3 606207 SLC28A1, CNT1 Solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 SLC28A1 9154 ENSG00000156222 Slc28a1 (MGI:3605073)
chr15 84980512 85139144 15q25.3-q26.1 15q25.3 602972 PDE8A Phosphodiesterase 8A PDE8A 5151 ENSG00000073417 Pde8a (MGI:1277116)
chr15 85380615 85749357 15q24-q25 15q25.3 604686 AKAP13, HT31, LBC, BRX A-kinase anchor protein 13 AKAP13 11214 ENSG00000170776 Akap13 (MGI:2676556)
chr15 86079638 87031475 15q25.3 15q25.3 615496 AGBL1, CCP4, FECD8 ATP/GTP-binding protein-like 1 AGBL1 123624 ENSG00000273540 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3), Autosomal dominant Agbl1 (MGI:3646469)
chr15 87859748 88256795 15q25 15q25.3 191316 NTRK3, TRKC Neurotrophic tyrosine kinase, receptor, type 3 NTRK3 4916 ENSG00000140538 Ntrk3 (MGI:97385)
chr15 88459477 88467401 15q24-q25 15q25.3 611851 MRPL46 Mitochondrial ribosomal protein L46 MRPL46 26589 ENSG00000259494 Mrpl46 (MGI:1914558)
chr15 88467452 88480766 15q25 15q25.3 611977 MRPS11 Mitochondrial ribosomal protein S11 MRPS11 64963 ENSG00000181991 Mrps11 (MGI:1915244)
chr15 88500000 101991189 15q26-qter 612626 DEL15q26qter, C15DELq26qter Chromosome 15q26-qter deletion syndrome contiguous gene deletion syndrome Chromosome 15q26-qter deletion syndrome, 612626 (4), Isolated cases
chr15 88500000 93800000 15q26.1 142340 DIH1, HCD Hernia, congenital diaphragmatic 1 DIH1 1732 Hernia, congenital diaphragmatic 1, 142340 (2), Multifactorial
chr15 88500000 101991189 15q26 600318 IDDM3 Insulin-dependent diabetes mellitus-3 IDDM3 3402 {Diabetes mellitus, insulin-dependent, 3}, 600318 (2)
chr15 88500000 101991189 15q26-qter 614846 LVSKS Levy-Shanske syndrome (tetrasomy 15q26) Levy-Shanske syndrome, 614846 (4)
chr15 88500000 101991189 15q26.1-qter 166800 OTSC1, OTS Otosclerosis 1 OTSC1 5012 Otosclerosis 1, 166800 (2), Autosomal dominant
chr15 88500000 101991189 15q26 609289 VVS Syncope, familial vasovagal 105031671 Syncope, familial vasovagal, 609289 (2), Autosomal dominant
chr15 88501923 88546702 15q25.3 15q26.1 608727 DET1 De-etiolated 1, Arabidopsis, homolog of DET1 55070 ENSG00000140543 Det1 (MGI:1923625)
chr15 88604600 88632280 15q26.1 15q26.1 610177 ISG20L1, AEN Interferon-stimulated exonuclease gene 20kD-like 1 AEN 64782 ENSG00000181026 Aen (MGI:1915298)
chr15 88635613 88656343 15q26 15q26.1 604533 ISG20, HEM45 Interferon-stimulated gene, 20kD ISG20 3669 ENSG00000172183 Isg20 (MGI:1928895)
chr15 88803441 88875353 15q26.1 15q26.1 155760 ACAN, AGC1, CSPG1, MSK16, SEDK, SSOAOD Aggrecan (chondroitin sulfate proteoglycan-1, large aggregating proteoglycan, antigen identifies by monoclonal antibody A0122) ACAN 176 ENSG00000157766 mutation identified in 1 SEDK family and 1 SEMDAG family Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3), Autosomal dominant; ?Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3), Autosomal recessive; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3), Autosomal dominant
chr15 88898682 88913468 15q25 15q26.1 602281 MFGE8 Milk fat globule-EGF factor 8 MFGE8 4240 ENSG00000140545 Mfge8 (MGI:102768)
chr15 89088149 89202359 15q26.1 15q26.1 612196 ABHD2, LABH2 Abhydrolase domain-containing 2 ABHD2 11057 ENSG00000140526 Abhd2 (MGI:1914344)
chr15 89209866 89223178 15q26 15q26.1 180090 RLBP1 Retinaldehyde-binding protein-1, cellular RLBP1 6017 ENSG00000140522 Bothnia retinal dystrophy, 607475 (3), Autosomal recessive; Fundus albipunctatus, 136880 (3), Autosomal recessive, Autosomal dominant; Newfoundland rod-cone dystrophy, 607476 (3); Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant Rlbp1 (MGI:97930)
chr15 89243953 89317131 15q25-q26 15q26.1 611360 FANCI, KIAA1794 FANCI gene FANCI 55215 ENSG00000140525 Fanconi anemia, complementation group I, 609053 (3), Autosomal recessive Fanci (MGI:2384790)
chr15 89316304 89334794 15q25 15q26.1 174763 POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS Polymerase (DNA directed), gamma POLG 5428 ENSG00000140521 PEO also digenic with C10orf2 Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3), Autosomal recessive; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3), Autosomal recessive; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3), Autosomal dominant; Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3), Autosomal recessive Polg (MGI:1196389)
chr15 89368016 89368105 15q26.1 15q26.1 611188 MIR9-3, MIRN9-3 Micro RNA 9-3 MIR9-3 407051
chr15 89471406 89496612 15q25 15q26.1 605381 RHCG, RHGK Rhesus blood group-associated kidney homolog RHCG 51458 ENSG00000140519 Rhcg (MGI:1888517)
chr15 89575586 89628022 15q26.1 15q26.1 613298 C15orf42, TRESLIN Treslin TICRR 90381 ENSG00000140534 Ticrr (MGI:1924261)
chr15 89627969 89663085 15q26.1 15q26.1 611254 KIF7, HLS2, ACLS, JBTS12, AGBK Kinesin family member 7 KIF7 374654 ENSG00000166813 mutation identified in 1 HLS2 family and 1 AGBK family Acrocallosal syndrome, 200990 (3), Autosomal recessive; ?Al-Gazali-Bakalinova syndrome, 607131 (3), Autosomal recessive; ?Hydrolethalus syndrome 2, 614120 (3), Autosomal recessive; Joubert syndrome 12, 200990 (3), Autosomal recessive Kif7 (MGI:1098239)
chr15 89664364 89679416 15q26 15q26.1 170290 PLIN1, PLIN, FPLD4 Perilipin 1 PLIN1 5346 ENSG00000166819 Lipodystrophy, familial partial, type 4, 613877 (3), Autosomal dominant Plin1 (MGI:1890505)
chr15 89681530 89690783 15q26.1 15q26.1 603866 PEX11A Peroxisome biogenesis factor 11A PEX11A 8800 ENSG00000166821 Pex11a (MGI:1338788)
chr15 89734771 89751308 15q26.1 15q26.1 608689 MESP1 Mesoderm posterior bHLH transcription factor 1 MESP1 55897 ENSG00000166823 Mesp1 (MGI:107785)
chr15 89776357 89778753 15q26.1 15q26.1 605195 MESP2, SCDO2 Mesoderm posterior bHLH transcription factor 2 MESP2 145873 ENSG00000188095 Spondylocostal dysostosis 2, autosomal recessive, 608681 (3) Mesp2 (MGI:1096325)
chr15 89784894 89814851 15q25-q26 15q26.1 151530 ANPEP, PEPN, CD13 Alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150) ANPEP 290 ENSG00000166825 Anpep (MGI:5000466)
chr15 89830598 89894384 15q26.1 15q26.1 602416 AP3S2 Adaptor-related protein complex 3, sigma-2 subunit AP3S2 10239 ENSG00000157823 Ap3s2 (MGI:1337060)
chr15 89896531 89912989 15q26.1 15q26.1 615543 C15orf38, ARPIN Chromosome 15 open reading frame 38 ARPIN 348110 ENSG00000242498 Arpin (MGI:1917670)
chr15 90083977 90102553 15q26.1 15q26.1 147650 IDH2, IDPM, D2HGA2 Isocitrate dehydrogenase, mitochondrial IDH2 3418 ENSG00000182054 D-2-hydroxyglutaric aciduria 2, 613657 (3) Idh2 (MGI:96414)
chr15 90184919 90229659 15q26.1 15q26.1 617029 SEMA4B Semaphorin 4B SEMA4B 10509 ENSG00000185033 Sema4b (MGI:107559)
chr15 90230244 90265758 15q25.3-q26.1 15q26.1 602293 CIB, KIP Calcium- and integrin-binding protein (kinase-interacting protein) CIB1 10519 ENSG00000185043 Cib1 (MGI:1344418)
chr15 90265662 90272210 15q26.1 15q26.1 616718 NGRN Neurite outgrowth-associated protein NGRN 51335 ENSG00000182768 Ngrn (MGI:1933212)
chr15 90388240 90502242 15q26 15q26.1 603379 IQGAP1, SAR1 RASGAP-like with IQ motifs (sar1, S. pombe, homolog of) IQGAP1 8826 ENSG00000140575 amplified in gastric cancer Iqgap1 (MGI:1352757)
chr15 90529885 90645344 15q26.1 15q26.1 608986 CRTC3, TORC3 CREB-regulated transcription coactivator 3 CRTC3 64784 ENSG00000140577 Crtc3 (MGI:1917711)
chr15 90717326 90815461 15q26.1 15q26.1 604610 RECQL3, RECQ2, BLM, BS DNA helicase, RecQ-like 3 BLM 641 ENSG00000197299 Bloom syndrome, 210900 (3), Autosomal recessive Blm (MGI:1328362)
chr15 90868591 90883457 15q25-q26 15q26.1 136950 FURIN, PACE, FUR, PCSK3 Furin (paired basic amino acid cleaving enzyme) FURIN 5045 ENSG00000140564 less than 1.1kb 5' to FES Furin (MGI:97513)
chr15 90884420 90895775 15q26.1 15q26.1 190030 FES Oncogene FES, feline sarcoma virus FES 2242 ENSG00000182511 Fes (MGI:95514)
chr15 90902217 90922584 15q25 15q26.1 600988 MAN2A2, MANA2X Mannosidase, alpha-, type II, isozyme X MAN2A2 4122 ENSG00000196547 Man2a2 (MGI:2150656)
chr15 90930179 90954092 15q25-q26 15q26.1 611219 UNC45A, SMAP1, GCUNC45 UNC45, C. elegans, homolog of, A UNC45A 55898 ENSG00000140553 Unc45a (MGI:2142246)
chr15 90966037 90994650 15q26.1 15q26.1 603484 PRC1 Protein regulating cytokinesis 1 PRC1 9055 ENSG00000198901 Prc1 (MGI:1858961)
chr15 90998415 91022838 15q26.1 15q26.1 608552 VPS33B Vacuolar protein sorting 33, yeast, homolog of, B VPS33B 26276 ENSG00000184056 Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3), Autosomal recessive Vps33b (MGI:2446237)
chr15 91099587 91302564 15q26.1 15q26.1 185861 SV2B, KIAA0735 Synaptic vesicle glycoprotein 2B SV2B 9899 ENSG00000185518 Sv2b (MGI:1927338)
chr15 91853707 92172434 15q26 15q26.1 612435 SLCO3A1, OATPD, OATP3A1 Solute carrier organic anion transporter family, member 3A1 SLCO3A1 28232 ENSG00000176463 Slco3a1 (MGI:1351867)
chr15 92393886 92468727 15q26 15q26.1 602546 STX Sialyltransferase X ST8SIA2 8128 ENSG00000140557 St8sia2 (MGI:106020)
chr15 92900320 93028006 15q26 15q26.1 602119 CHD2, EEOC Chromodomain helicase DNA binding protein-2 CHD2 1106 ENSG00000173575 Epileptic encephalopathy, childhood-onset, 615369 (3), Autosomal dominant Chd2 (MGI:2448567)
chr15 93043405 93089213 15q26.1 15q26.1 607362 RGMA RGM domain family, member A (repulsive guidance molecule) RGMA 56963 ENSG00000182175 Rgma (MGI:2679262)
chr15 94231537 94483951 15q26.2 15q26.2 616297 MCTP2 Multiple C2 domains-containing transmembrane protein 2 MCTP2 55784 ENSG00000140563 Mctp2 (MGI:2685335)
chr15 96325927 96340262 15q26.1-q26.2 15q26.2 107773 NR2F2, TFCOUP2, ARP1, CHTD4 Nuclear receptor subfamily 2, group F, member 2 (transcription factor COUP 2) NR2F2 7026 ENSG00000185551 Congenital heart defects, multiple types, 4, 615779 (3), Autosomal dominant Nr2f2 (MGI:1352452)
chr15 96783406 96785614 15q26.2 15q26.2 613948 SPATA8, SRG8 Spermatogenesis-associated protein 8 SPATA8 145946 ENSG00000185594
chr15 98648538 98964529 15q25-q26 15q26.3 147370 IGF1R Insulin-like growth factor-1 receptor IGF1R 3480 ENSG00000140443 Insulin-like growth factor I, resistance to, 270450 (3), Autosomal recessive, Autosomal dominant Igf1r (MGI:96433)
chr15 99105068 99136585 Chr.15 15q26.3 606087 DMN Desmuslin SYNM 23336 ENSG00000182253 Synm (MGI:2661187)
chr15 99565546 99716487 15q26 15q26.3 600660 MEF2A, ADCAD1 MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A) MEF2A 4205 ENSG00000068305 {Coronary artery disease, autosomal dominant, 1}, 608320 (3), Autosomal dominant Mef2a (MGI:99532)
chr15 99971437 100342923 15q24 15q26.3 607511 ADAMTS17, WMS4 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 17 ADAMTS17 170691 ENSG00000140470 Weill-Marchesani 4 syndrome, recessive, 613195 (3), Autosomal recessive Adamts17 (MGI:3588195)
chr15 100400394 100544981 15q26.3 15q26.3 615276 CERS3, LASS3, ARCI9 Ceramide synthase 3 CERS3 204219 ENSG00000154227 Ichthyosis, congenital, autosomal recessive 9, 615023 (3), Autosomal recessive Cers3 (MGI:2681008)
chr15 100566913 100603031 15q26 15q26.3 610350 LINS1, WINS1, FLJ10583, MRT27 Lines, Drosophila, homolog of, 1 LINS1 55180 ENSG00000140471 Mental retardation, autosomal recessive 27, 614340 (3), Autosomal recessive Lins1 (MGI:1919885)
chr15 100602549 100651700 15q26.3 15q26.3 615052 ASB7 Ankyrin repeat- and SOCS box-containing protein 7 ASB7 140460 ENSG00000183475 Asb7 (MGI:2152835)
chr15 100879691 100916625 15q26 15q26.3 600463 ALDH1A3, ALDH6, MCOP8 Aldehyde dehydrogenase 1 family, member A3 ALDH1A3 220 ENSG00000184254 Microphthalmia, isolated 8, 615113 (3), Autosomal recessive Aldh1a3 (MGI:1861722)
chr15 100919016 101072889 15q26.3 15q26.3 610986 LRRK1 Leucine-rich repeat kinase 1 LRRK1 79705 ENSG00000154237 Lrrk1 (MGI:2142227)
chr15 101175722 101251931 15q26.3 15q26.3 608183 CHSY1, KIAA0990, TPBS Carbohydrate synthase 1 CHSY1 22856 ENSG00000131873 Temtamy preaxial brachydactyly syndrome, 605282 (3), Autosomal recessive Chsy1 (MGI:2681120)
chr15 101270908 101277519 15q26.3 15q26.3 607918 SELENOS, SEPS1, SELS, VIMP, ADO15 Selenoprotein S SELENOS 55829 ENSG00000131871 Selenos (MGI:95994)
chr15 101281509 101295281 15q26.3 15q26.3 603521 SNRPA1 Small nuclear ribonucleoprotein polypeptide A' SNRPA1 6627 ENSG00000131876 Snrpa1 (MGI:1916231)
chr15 101303927 101489983 15q26 15q26.3 167405 PCSK6, PACE4, SPC4 Proprotein convertase subtilisin/kexin type 6 PCSK6 5046 ENSG00000140479 Pcsk6 (MGI:102897)
chr15 101632976 101652390 15q26.3 15q26.3 610014 TM2D3, BLP2 TM2 domain-containing protein 3 TM2D3 80213 ENSG00000184277 Tm2d3 (MGI:1915884)
chr15 0 101991189 Chr.15 120340 COL1AR Collagen I, alpha, receptor COL1AR 1279
chr16 0 16700000 16p13 608903 ADHD1 Attention deficit-hyperactivity disorder, susceptibility to, 1 450087 max lod at D16S3114 {Attention deficit-hyperactivity disorder}, 143465 (2), Autosomal dominant
chr16 0 16700000 16p13 608558 BMIQ5 Body mass index quantitative trait locus 5 BMIQ5 449016 near D16S404 and D16S764 [Body mass index QTL5], 608558 (2)
chr16 0 16700000 16pter-p13 607339 CHDS1 Coronary heart disease, susceptibility to, 1 338334 {Coronary heart disease, susceptibility to}, 607339 (2)
chr16 0 7800000 16p13.3 610543 DEL16p13.3, RSTSS Chromosome 16p13.3 deletion syndrome (Rubinstein-Taybi deletion syndrome) contiguous gene deletion syndrome Chromosome 16p13.3 deletion syndrome, 610543 (4)
chr16 0 7800000 16p13.3 613458 DUP16p13.3, C16DUPq13.3 Chromosome 16p13.3 duplication syndrome contiguous gene duplication syndrome Chromosome 16p13.3 duplication syndrome, 613458 (4), Autosomal dominant, Isolated cases
chr16 0 7800000 16pter-p13.3 141750 HBHR, ATR1 Alpha-thalassemia/mental retardation syndrome, type 1 contiguous gene syndrome involving deletion of HBA1 and HBA2 Alpha-thalassemia/mental retardation syndrome, type 1, 141750 (4), Autosomal dominant
chr16 0 36800000 16p 606668 IBD8 Inflammatory bowel disease 8 IBD8 170595 {Inflammatory bowel disease 8}, 606668 (2)
chr16 0 28500000 16p13-p12 610260 IHPS2 Pyloric stenosis, infantile hypertrophic, 2 780923 Pyloric stenosis, infantile hypertrophic, 2, 610260 (2)
chr16 0 7800000 16p13.3 156850 MCOPCT1 Microphthalmia with cataract 1 8130 proximal to HBA1 Microphthalmia with cataract 1, 156850 (2), Autosomal dominant
chr16 0 7800000 16p13.3 600273 PKDTS Polycystic kidney disease, infantile severe, with tuberous sclerosis contiguous gene syndrome caused by deletion of TSC2 and PKD1 Polycystic kidney disease, infantile severe, with tuberous sclerosis, 600273 (4), Autosomal dominant
chr16 46978 53631 16p13.3 16p13.3 606007 POLR3K, RPC11 Polymerase III, RNA, subunit K POLR3K 51728 ENSG00000161980 Polr3k (MGI:1914255)
chr16 58058 76354 16p13.3 16p13.3 614403 RHBDF1, IRHOM1, DIST1 Rhomboid 5, Drosophila, homolog of, 1 RHBDF1 64285 ENSG00000007384 Rhbdf1 (MGI:104328)
chr16 77018 85850 16pter-p13.3 16p13.3 156565 MPG, MDG N-methylpurine DNA glycosylase MPG 4350 ENSG00000103152 75kb upstream of HBZ Mpg (MGI:97073)
chr16 85800 138697 16p13.3 16p13.3 600928 NPRL3, CGTHBA, FFEVF3 Nitrogen permease regulator-like 3 NPRL3 8131 ENSG00000103148 Epilepsy, familial focal, with variable foci 3, 617118 (3), Autosomal dominant Nprl3 (MGI:109258)
chr16 142421 154510 16pter-p13.3 16p13.3 142310 HBZ Hemoglobin, zeta HBZ 3050 ENSG00000130656 Hba-x (MGI:96019)
chr16 165973 166767 16p13.3 16p13.3 609639 HBM Hemoglobin mu HBM 3042 ENSG00000206177 ?functional
chr16 172846 173709 16pter-p13.3 16p13.3 141850 HBA2, HBH Hemoglobin alpha-2 HBA2 3040 ENSG00000188536 Erythrocytosis (3); Heinz body anemia, 140700 (3), Autosomal dominant; Hemoglobin H disease, nondeletional, 613978 (3); Hypochromic microcytic anemia (3); Thalassemia, alpha-, 604131 (3) Hba-a1,Hba-a2 (MGI:96016,MGI:96015)
chr16 176650 177521 16pter-p13.3 16p13.3 141800 HBA1, HBH Hemoglobin alpha-1 HBA1 3039 ENSG00000206172 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' Erythremias, alpha- (3); Heinz body anemias, alpha-, 140700 (3), Autosomal dominant; Hemoglobin H disease, nondeletional, 613978 (3); Methemoglobinemias, alpha- (3); Thalassemias, alpha-, 604131 (3) Hba-a1,Hba-a2 (MGI:96016,MGI:96015)
chr16 180333 181178 16pter-p13.3 16p13.3 142240 HBQ1 Hemoglobin theta-1 HBQ1 3049 ENSG00000086506 Hbq1b (MGI:3613460)
chr16 188968 229481 16p13.3 16p13.3 607782 LUC7L Luc7, S. cerevisiae, homolog of LUC7L 55692 ENSG00000007392 Luc7l (MGI:1914228)
chr16 268300 275942 16p13.3 16p13.3 603895 RS11 Regulator of G protein signaling 11 RGS11 8786 ENSG00000076344 Rgs11 (MGI:1354739)
chr16 283136 287214 16p13.3 16p13.3 608012 PDIA2, PDIP Protein disulfide isomerase, family A, member 2 PDIA2 64714 ENSG00000185615 Pdia2 (MGI:1916441)
chr16 287439 355225 16p13.3 16p13.3 603816 AXIN1, AXIN Axis inhibitor 1 AXIN1 8312 ENSG00000103126 hypermethylation of AXIN1 promoter seen in 1 CDUP patient ?Caudal duplication anomaly, 607864 (3); Hepatocellular carcinoma, somatic, 114550 (3) Axin1 (MGI:1096327)
chr16 367383 370568 16p13.3 16p13.3 604853 MRPL28, MAAT1 Mitochondrial ribosomal protein L28 MRPL28 10573 ENSG00000086504 Mrpl28 (MGI:1915861)
chr16 396754 400753 16p13.3 16p13.3 601818 NME4 Non-metastatic cells 4, protein expressed in NME4 4833 ENSG00000103202 Nme4 (MGI:1931148)
chr16 401857 412486 16p13.3 16p13.3 615839 DECR2, PDCR 2,4-dienoyl-CoA reductase 2, peroxisomal DECR2 26063 ENSG00000242612 Decr2 (MGI:1347059)
chr16 425620 522484 16p13.3 16p13.3 608738 RAB11FIP3, EFERIN, KIAA0665 RAB11 family-interacting protein 3 RAB11FIP3 9727 ENSG00000090565 Rab11fip3 (MGI:2444431)
chr16 527793 554635 16p13.3 16p13.3 603267 SOLH Small optic lobes, Drosophila, homolog of CAPN15 6650 ENSG00000103326 conflicting localization to Xq24 Capn15 (MGI:1355075)
chr16 569967 584135 16p13.3 16p13.3 605754 PIGQ Phosphatidylinositol glycan anchor biosynthesis class Q protein PIGQ 9091 ENSG00000007541 Pigq (MGI:1333114)
chr16 631011 634115 16p13.3 16p13.3 608021 WFIKKN1, WFIKKN WAP, follistatin, immunoglobulin, Kunitz, and NTR domains-containing protein 1 WFIKKN1 117166 ENSG00000127578 Wfikkn1 (MGI:2670967)
chr16 668082 674173 16p13.3 16p13.3 613889 RHOT2, MIRO2, ARHT2 Ras homolog gene family, member T2 RHOT2 89941 ENSG00000140983 Rhot2 (MGI:2384892)
chr16 675665 678270 16p13.3 16p13.3 603264 RHBDL, RRP Rhomboid, Drosophila, homolog of RHBDL1 9028 ENSG00000103269 Rhbdl1 (MGI:2384891)
chr16 680110 682767 16p13.3 16p13.3 607207 STUB1, CHIP, SCAR16 STIP1 homologous and U box-containing protein 1 STUB1 10273 ENSG00000103266 Spinocerebellar ataxia, autosomal recessive 16, 615768 (3), Autosomal recessive Stub1 (MGI:1891731)
chr16 692499 707852 16p13.3 16p13.3 609082 FBXL16, FBL16, C16orf22 F-box and leucine-rich repeat protein 16 FBXL16 146330 ENSG00000127585 Fbxl16 (MGI:2448488)
chr16 715172 719654 16p13.3 16p13.3 610998 METRN Meteorin METRN 79006 ENSG00000103260 Metrn (MGI:1917333)
chr16 722577 726879 16p13.3 16p13.3 614666 CCDC78, C16orf25, CNM4 Coiled-coil domain-containing protein 78 CCDC78 124093 ENSG00000162004 mutation identified in 1 CNM4 family ?Centronuclear myopathy 4, 614807 (3), Autosomal dominant Ccdc78 (MGI:2685784)
chr16 729752 741037 16p13.3 16p13.3 611118 NARFL, IOP1 Nuclear prelamin A recognition factor-like NARFL 64428 ENSG00000103245 Narfl (MGI:1914813)
chr16 760764 768864 16p13.3 16p13.3 601051 MSLN Mesothelin MSLN 10232 ENSG00000102854 Msln (MGI:1888992)
chr16 788621 798073 16p13.3 16p13.3 613201 CHTF18, CHL12, CTF18 Chromosome transmission fidelity factor 18, S. cerevisiae, homolog of CHTF18 63922 ENSG00000127586 Chtf18 (MGI:2384887)
chr16 798040 800732 16p13.3 16p13.3 607298 GNG13 Guanine nucleotide-binding protein, gamma-13 GNG13 51764 ENSG00000127588 Gng13 (MGI:1925616)
chr16 853631 981612 16p13.3 16p13.3 611761 LMF1, TMEM112 Lipase maturation factor 1 LMF1 64788 ENSG00000103227 Lipase deficiency, combined, 246650 (3), Autosomal recessive Lmf1 (MGI:1923733)
chr16 981807 986978 16p13.3 16p13.3 605923 SOX8 SRY-box 8 SOX8 30812 ENSG00000005513 Sox8 (MGI:98370)
chr16 1072755 1081453 16p13.3 16p13.3 182455 SSTR5 Somatostatin receptor-5 SSTR5 6755 ENSG00000162009 Somatostatin analog, resistance to (3) Sstr5 (MGI:894282)
chr16 1088225 1096305 16p13.3 16p13.3 614147 C1QTNF8, CTRP8 C1q- and tumor necrosis factor-related protein 8 C1QTNF8 390664 ENSG00000184471
chr16 1153240 1221771 16p13.3 16p13.3 607904 CACNA1H, EIG6, ECA6, HALD4 Calcium channel, voltage-dependent, T type, alpha-1H subunit CACNA1H 8912 ENSG00000196557 {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3); {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3); Hyperaldosteronism, familial, type IV, 617027 (3), Autosomal dominant Cacna1h (MGI:1928842)
chr16 1221650 1226453 16p13.3 16p13.3 609341 TPSG1, TMT Tryptase, gamma-1 TPSG1 25823 ENSG00000116176 Tpsg1 (MGI:1349391)
chr16 1228335 1230183 16p13.3 16p13.3 191081 TPSB2, TPS2 Tryptase, beta 2 TPSB2 64499 ENSG00000197253 Tpsb2 (MGI:96942)
chr16 1240676 1242553 16p13.3 16p13.3 191080 TPSAB1, TPS1 Tryptase, alpha/beta-1 TPSAB1 7177 ENSG00000172236 Tpsb2 (MGI:96942)
chr16 1256271 1258492 16p13.3 16p13.3 609272 TPSD1, MCP7L1 Tryptase, delta-1 TPSD1 23430 ENSG00000095917
chr16 1309152 1327017 16p13.3 16p13.3 601661 UBE2I Ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9) UBE2I 7329 ENSG00000103275 Ube2i (MGI:107365)
chr16 1333604 1349440 16p13.3 16p13.3 604009 BAIAP3, BAP3 BAI1-associated protein 3 BAIAP3 8938 ENSG00000007516 Baiap3 (MGI:2685783)
chr16 1349239 1351871 16p13.3 16p13.3 617058 TSR3 TSR3, aminocarboxypropyl transferase ribosome maturation factor TSR3 115939 ENSG00000007520 Tsr3 (MGI:1915577)
chr16 1351898 1363350 16p 16p13.3 607838 GNPTAG N-acetylglucosamine-1-phosphotransferase, gamma subunit GNPTG 84572 ENSG00000090581 Mucolipidosis III gamma, 252605 (3), Autosomal recessive Gnptg (MGI:2147006)
chr16 1363204 1414748 16p13.3 16p13.3 617463 UNKL, ZC3H5L, C16orf28 Unkempt family-like zinc finger UNKL 64718 ENSG00000059145 Unkl (MGI:1921404)
chr16 1444932 1475083 16p13 16p13.3 602727 CLCN7, CLC7, OPTA2, OPTB4 Chloride channel-7 CLCN7 1186 ENSG00000103249 Osteopetrosis, autosomal dominant 2, 166600 (3), Autosomal dominant; Osteopetrosis, autosomal recessive 4, 611490 (3) Clcn7 (MGI:1347048)
chr16 1485938 1488908 16p13.3 16p13.3 613442 PTX4 Pentraxin 4, long PTX4 390667 ENSG00000251692 Ptx4 (MGI:1915759)
chr16 1493344 1510458 16p13.3 16p13.3 611140 TELO2, TEL2, CLK2, KIAA0683, HCLK2, YHFS Telomere maintenance 2, S. cerevisiae, homolog of TELO2 9894 ENSG00000100726 You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive Telo2 (MGI:1918968)
chr16 1510426 1612107 16p13.3 16p13.3 614620 IFT140, KIAA0590, SRTD9, MZSDS, RP80 Intraflagellar transport 140, Chlamydomonas, homolog of IFT140 9742 ENSG00000187535 Retinitis pigmentosa 80, 617781 (3), Autosomal recessive; Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3), Autosomal recessive Ift140 (MGI:2146906)
chr16 1528740 1555579 16p13.3 16p13.3 611002 TMEM204, C16orf30, CLP24 Transmembrane protein 204 TMEM204 79652 ENSG00000131634 Tmem204 (MGI:3039635)
chr16 1706182 1770316 16p13.3 16p13.3 605431 MAPK8IP3, SYD2, JSAP1, JIP3 Mitogen-activated protein kinase 8-interacting protein 3 MAPK8IP3 23162 ENSG00000138834 Mapk8ip3 (MGI:1353598)
chr16 1770319 1771749 16q13 16p13.3 601817 NME3, NM23H3 Nonmetastatic cells 3, protein expressed in NME3 4832 ENSG00000103024 Nme3 (MGI:1930182)
chr16 1771888 1773150 16q13-q21 16p13.3 611994 MRPS34, MRPS12, COXPD32 Mitochondrial ribosomal protein S34 MRPS34 65993 ENSG00000074071 Combined oxidative phosphorylation deficiency 32, 617664 (3), Autosomal recessive Mrps34 (MGI:1930188)
chr16 1773221 1776713 16p13.3 16p13.3 610886 EME2 Essential meiotic endonuclease 1, S. pombe, homolog of, 2 EME2 197342 ENSG00000197774 Eme2 (MGI:1919889)
chr16 1776711 1782579 16p13.3 16p13.3 611659 SPSB3, SSB3 SPRY domain- and SOCS box-containing 3 SPSB3 90864 ENSG00000162032 Spsb3 (MGI:1891471)
chr16 1782922 1789190 16p13.3 16p13.3 610779 NUBP2, CFD1 Nucleotide-binding protein 2 NUBP2 10101 ENSG00000095906 Nubp2 (MGI:1347072)
chr16 1790412 1794907 16p13.3 16p13.3 601489 IGFALS, ALS, ACLSD Insulin-like growth factor-binding protein, acid-labile subunit IGFALS 3483 ENSG00000099769 Acid-labile subunit, deficiency of, 615961 (3) Igfals (MGI:107973)
chr16 1809102 1827193 16p13 16p13.3 138760 HAGH, GLO2 Hydroxyacyl glutathione hydrolase; glyoxalase II HAGH 3029 ENSG00000063854 [Glyoxalase II deficiency], 614033 (1), Autosomal dominant Hagh (MGI:95745)
chr16 1827223 1840206 16p13.3 16p13.3 616320 FAHD1, FLJ36880 Fumarylacetoacetate hydrolase domain-containing protein 1 FAHD1 81889 ENSG00000180185 Fahd1 (MGI:1915886)
chr16 1833982 1872177 16p13.3 16p13.3 617670 MEIOB, SPGF22 Meiosis-specific protein with OB domains MEIOB 254528 ENSG00000162039 mutation identified in one SPGF22 family ?Spermatogenic failure 22, 617706 (3), Autosomal recessive Meiob (MGI:1922428)
chr16 1938228 1943325 16p13.3 16p13.3 606216 MSRB1, SEPX1, SELX Methionine sulfoxide reductase B1 MSRB1 51734 ENSG00000198736 Msrb1 (MGI:1351642)
chr16 1944570 1955122 16p13.3 16p13.3 617416 RPL3L Ribosomal protein L3-like RPL3L 6123 ENSG00000140986 Rpl3l (MGI:1913461)
chr16 1959515 1961974 16p13.3 16p13.3 603843 NDUFB10 NADH-ubiquinone oxidoreductase 1 beta subcomplex, 10 NDUFB10 4716 ENSG00000140990 Ndufb10 (MGI:1915592)
chr16 1962060 1964825 16p13.3 16p13.3 603624 RPS2 Ribosomal protein S2 RPS2 6187 ENSG00000140988 Rps2 (MGI:105110)
chr16 1972062 1978749 16p13.3 16p13.3 605915 TBL3 Transducin-beta-like 3 TBL3 10607 ENSG00000183751 Tbl3 (MGI:2384863)
chr16 1978916 1984026 16p13 16p13.3 611256 NOXO1 NADPH oxidase organizer 1 NOXO1 124056 ENSG00000196408 Noxo1 (MGI:1919143)
chr16 1984148 1987748 16p13.3-p13.12 16p13.3 600924 GFER, ERV1, ALR Growth factor, erv1, S. cerevisiae, homolog of (augmenter of liver regeneration) GFER 2671 ENSG00000127554 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3) Gfer (MGI:107757)
chr16 1989944 1994274 16pter 16p13.3 603927 SYNGR3 Synaptogyrin 3 SYNGR3 9143 ENSG00000127561 Syngr3 (MGI:1341881)
chr16 1997651 2009820 16p13.3 16p13.3 617508 ZNF598 Zinc finger protein 598 ZNF598 90850 ENSG00000167962 Zfp598 (MGI:2670965)
chr16 2019519 2020754 16p13.3 16p13.3 607997 NPW, PPNPW, PPL8 Neuropeptide W NPW 283869 ENSG00000183971 Npw (MGI:2685781)
chr16 2026867 2039025 16p13.3 16p13.3 606553 SLC9A3R2, SIP1, NHERF2 Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulatory factor 2 SLC9A3R2 9351 ENSG00000065054 Slc9a3r2 (MGI:1890662)
chr16 2039814 2047871 16p13.3-p13.2 16p13.3 602656 NTHL1, OCTS3, FAP3 Endonuclease III, E. coli, homolog of NTHL1 4913 ENSG00000065057 Familial adenomatous polyposis 3, 616415 (3), Autosomal recessive Nthl1 (MGI:1313275)
chr16 2047803 2088719 16p13.3 16p13.3 191092 TSC2, LAM Tuberin (tuberous sclerosis 2 gene) TSC2 7249 ENSG00000103197 somatic mutation identified in 1 FCORD2 patient ?Focal cortical dysplasia, type II, somatic, 607341 (3); Lymphangioleiomyomatosis, somatic, 606690 (3); Tuberous sclerosis-2, 613254 (3), Autosomal dominant Tsc2 (MGI:102548)
chr16 2088707 2135897 16p13.3-p13.12 16p13.3 601313 PKD1 Polycystin-1 PKD1 5310 ENSG00000008710 Polycystic kidney disease 1, 173900 (3), Autosomal dominant Pkd1 (MGI:97603)
chr16 2090194 2090283 16p13.3 16p13.3 611621 MIR1225, MIRN1225 Micro RNA 1225 MIR1225 100188847
chr16 2148143 2154164 16p13.3 16p13.3 605455 RAB26 RAS-associated protein RAB26 RAB26 25837 ENSG00000167964 Rab26 (MGI:2443284)
chr16 2155777 2178128 16p13.3 16p13.3 606692 TRAF7, RFWD1 TNF receptor-associated factor 7 TRAF7 84231 ENSG00000131653 Traf7 (MGI:3042141)
chr16 2177182 2196505 16p13.3 16p13.3 612184 CASKIN1, KIAA1306 CASK-interacting protein 1 CASKIN1 57524 ENSG00000167971 Caskin1 (MGI:2442952)
chr16 2204627 2209453 16p13.3 16p13.3 612190 MLST8, GBL, LST8, WAT1, POP3 MTOR-associated protein LST8 MLST8 64223 ENSG00000167965 Mlst8 (MGI:1929514)
chr16 2211601 2214820 16p13.3 16p13.3 172280 PGP Phosphoglycolate phosphatase PGP 283871 ENSG00000184207 no recombination with PKD1 Pgp (MGI:1914328)
chr16 2223487 2235741 16p13.3 16p13.3 603022 E4F1, E4F E4F transcription factor 1 E4F1 1877 ENSG00000167967 E4f1 (MGI:109530)
chr16 2239871 2251600 16p13.3 16p13.3 600305 ECI1, DCI Enoyl-CoA delta isomerase 1 ECI1 1632 ENSG00000167969 Eci1 (MGI:94871)
chr16 2275877 2340745 16p13.3 16p13.3 601615 ABCA3, ABC3, SMDP3 ATP-binding cassette-3 ABCA3 21 ENSG00000167972 Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3), Autosomal recessive Abca3 (MGI:1351617)
chr16 2429390 2458857 16p13.3 16p13.3 600227 CCNF, FBX1 Cyclin F CCNF 899 ENSG00000162063 Ccnf (MGI:102551)
chr16 2471498 2474144 16p13.3 16p13.3 602349 NTN2L Netrin-2, chicken, homolog of, like NTN3 4917 ENSG00000162068 Ntn3 (MGI:1341188)
chr16 2475103 2509668 16p13.3 16p13.3 613577 TBC1D24, KIAA1171, FIME, EIEE16, DOORS, DFNB86, DFNA65 TBC1 domain family, member 24 TBC1D24 57465 ENSG00000162065 DOORS syndrome, 220500 (3), Autosomal recessive; Deafness , autosomal recessive 86, 614617 (3), Autosomal recessive; Deafness, autosomal dominant 65, 616044 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 16, 615338 (3), Autosomal recessive; Myoclonic epilepsy, infantile, familial, 605021 (3), Autosomal recessive Tbc1d24 (MGI:2443456)
chr16 2513725 2520222 16p13.3 16p13.3 108745 ATP6V0C, ATP6L, ATP6C ATPase, H+ transporting, lysosomal, 16kD, V0 subunit c ATP6V0C 527 ENSG00000185883 Atp6v0c (MGI:88116)
chr16 2530034 2531407 16p13.3 16p13.3 611113 CEMP1, CP23 Cementum protein 1 CEMP1 752014 ENSG00000205923
chr16 2537963 2603189 16p13.3 16p13.3 605213 PDPK1, PDK1 3-phosphoinositide-dependent protein kinase 1 PDPK1 5170 ENSG00000140992 Pdpk1 (MGI:1338068)
chr16 2682493 2709029 16p13.3 16p13.3 611285 KCTD5 Potassium channel tetramerization domain-containing protein 5 KCTD5 54442 ENSG00000167977 Kctd5 (MGI:1916509)
chr16 2750902 2771411 Chr.16 16p13.3 606032 SRRM2, SRM300, KIAA0324 Serine/arginine repetitive matrix 2 (ser/arg-rich splicing factor-related nuclear matrix protein, 300kD) SRRM2 23524 ENSG00000167978
chr16 2771413 2777295 16p13.3 16p13.3 600787 TCEB2, ELOB Transcription elongation factor B, polypeptide 2 ELOB 6923 ENSG00000103363
chr16 2783952 2787758 16p13.3 16p13.3 613797 PRSS33, EOS Protease, serine, 33 PRSS33 260429 ENSG00000103355 Prss33 (MGI:2661234)
chr16 2817162 2821721 16p13.3 16p13.3 608159 PRSS21, ESP1 Protease, serine, 21 (testisin) PRSS21 10942 ENSG00000007038 Prss21 (MGI:1916698)
chr16 2852726 2858629 16p13.3 16p13.3 609343 PRSS22 Protease, serine, 22 PRSS22 64063 ENSG00000005001 Prss22 (MGI:1918085)
chr16 2964215 2968382 16p13.3 16p13.3 609899 KREMEN2, KRM2 Kringle domain-containing transmembrane protein 2 KREMEN2 79412 ENSG00000131650 Kremen2 (MGI:1920266)
chr16 2969244 2973488 16p13.3 16p13.3 614578 PAQR4 Progestin and ADIPOQ receptor family, member 4 PAQR4 124222 ENSG00000162073 Paqr4 (MGI:1923748)
chr16 2972790 2980538 16p13.3 16p13.3 602474 PKMYT1, MYT1 Protein kinase, membrane-associated tyrosine/threonine, 1 PKMYT1 9088 ENSG00000127564 Pkmyt1 (MGI:2137630)
chr16 3012455 3014504 16p13.3 16p13.3 615799 CLDN9 Claudin 9 CLDN9 9080 ENSG00000213937 Cldn9 (MGI:1913100)
chr16 3014711 3018186 16p13.3 16p13.3 615798 CLDN6 Claudin 6 CLDN6 9074 ENSG00000184697 Cldn6 (MGI:1859284)
chr16 3020311 3022382 16p13.3 16p13.3 605914 TNFRSF12A, FN14, TWEAKR Tumor necrosis factor receptor superfamily, member 12A TNFRSF12A 51330 ENSG00000006327 Tnfrsf12a (MGI:1351484)
chr16 3024018 3027754 16p13.3 16p13.3 615403 THOC6, FSAP35, BBIS THO complex subunit 6 THOC6 79228 ENSG00000131652 Beaulieu-Boycott-Innes syndrome, 613680 (3), Autosomal recessive Thoc6 (MGI:2677480)
chr16 3027709 3036984 16p13.3 16p13.3 617003 BICDL2, BICDR2, CCDC64B BICD family-like cargo adaptor 2 BICDL2 146439 ENSG00000162069 Bicdl2 (MGI:2388267)
chr16 3045962 3060728 16p13.3 16p13.3 608482 MMP25, MMP20A Matrix metalloproteinase 25 MMP25 64386 ENSG00000008516 Mmp25 (MGI:2443938)
chr16 3065311 3069818 16p13.3 16p13.3 606001 IL32, NK4 Interleukin 32 IL32 9235 ENSG00000008517
chr16 3112561 3120516 16p13.3 16p13.3 603436 ZNF205, ZNF210 Zinc finger protein-205 ZNF205 7755 ENSG00000122386 Zfp13 (MGI:99159)
chr16 3135055 3142803 16p13.3 16p13.3 608387 ZNF213, CR53 Zinc finger protein 213 ZNF213 7760 ENSG00000085644 Zfp213 (MGI:3053094)
chr16 3188203 3206558 16p13 16p13.3 603232 OR1F1, OLFMF Olfactory receptor, family 1, subfamily F, member 1 OR1F1 4992 ENSG00000168124
chr16 3222324 3236220 16p13 16p13.3 603231 ZNF200 Zinc finger protein-200 ZNF200 7752 ENSG00000010539
chr16 3242027 3256775 16p13 16p13.3 608107 MEFV, MEF, FMF Pyrin (marenostrin) MEFV 4210 ENSG00000103313 between D16S80 and D16S283 Familial Mediterranean fever, AD, 134610 (3), Autosomal dominant; Familial Mediterranean fever, AR, 249100 (3), Autosomal recessive Mefv (MGI:1859396)
chr16 3283182 3301648 16p13.3 16p13.3 604191 ZNF263 Zinc finger protein 263 ZNF263 10127 ENSG00000006194 Zfp263 (MGI:1921370)
chr16 3298807 3305438 16p13 16p13.3 612969 TIGD7, SANCHO Tigger transposable element-derived gene 7 TIGD7 91151 ENSG00000140993
chr16 3305405 3322998 16pter-p11 16p13.3 601473 ZNF75A Zinc finger protein-75A ZNF75A 7627 ENSG00000162086
chr16 3401189 3409363 16p13.3 16p13.3 603900 ZNF174 Zinc finger protein-174 ZNF174 7727 ENSG00000103343 Zfp174 (MGI:2686600)
chr16 3432421 3443536 16p13.3 16p13.3 614685 ZNF597 Zinc finger protein 597 ZNF597 146434 ENSG00000167981 Zfp597 (MGI:1918313)
chr16 3443610 3486962 16p13.3 16p13.3 614246 NAA60, NAT15 N-alpha-acetyltransferase 60, NatF catalytic subunit NAA60 79903 ENSG00000122390 Naa60 (MGI:1922013)
chr16 3500930 3539047 16p13 16p13.3 616787 CLUAP1, QILIN, FAP22, KIAA0643 Clusterin-associated protein 1 CLUAP1 23059 ENSG00000103351 Cluap1 (MGI:1924029)
chr16 3539032 3577781 16p13.3 16p13.3 615648 NLRC3 NLR family, Caspase recruitment domain-containing 3 NLRC3 197358 ENSG00000167984 Nlrc3 (MGI:2444070)
chr16 3579652 3611638 16p13.3 16p13.3 613278 SLX4, BTBD12, MUS312, KIAA1784, KIAA1987, FANCP Slx4, S. cerevisiae, homolog of SLX4 84464 ENSG00000188827 Fanconi anemia, complementation group P, 613951 (3), Autosomal recessive Slx4 (MGI:106299)
chr16 3611736 3665471 16p13.3 16p13.3 125505 DNASE1, DNL1 Deoxyribonuclease I DNASE1 1773 ENSG00000213918 {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant Dnase1 (MGI:103157)
chr16 3658036 3717596 16p13.3 16p13.3 606219 TRAP1, HSP75, HSP90L Tumor necrosis factor receptor-associated protein 1 TRAP1 10131 ENSG00000126602 Trap1 (MGI:1915265)
chr16 3725053 3880726 16p13.3 16p13.3 600140 CREBBP, CBP, RSTS1 CREB binding protein CREBBP 1387 ENSG00000005339 fusion partner with MORF in AML; fusion partner with MLL in therapy-related acute leukemia; fusion partner with MOZ in AML Rubinstein-Taybi syndrome 1, 180849 (3), Autosomal dominant Crebbp (MGI:1098280)
chr16 3953386 4116184 16p13.3 16p13.3 603302 ADCY9 Adenylate cyclase-9 ADCY9 115 ENSG00000162104 Adcy9 (MGI:108450)
chr16 4189373 4242252 16p13.3 16p13.3 604992 SRL Sarcalumenin SRL 6345 ENSG00000185739 Srl (MGI:2146620)
chr16 4257185 4272999 16p13 16p13.3 600743 TFAP4 Transcription factor AP-4 (activating enhancer-binding protein 4) TFAP4 7023 ENSG00000090447 Tfap4 (MGI:103239)
chr16 4314760 4339596 16p13.3 16p13.3 608539 GLIS2, NPHP7 GLIS family zinc finger protein 2 GLIS2 84662 ENSG00000126603 Nephronophthisis 7, 611498 (3) Glis2 (MGI:1932535)
chr16 4340248 4351398 16p13.3 16p13.3 614336 PAM16, MAGMAS, SMDMDM Presequence translocase-associated motor 16, S. cerevisiae, homolog of PAM16 51025 ENSG00000217930 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3), Autosomal recessive Pam16 (MGI:1913699)
chr16 4354541 4416960 16p13.3 16p13.3 611668 CORO7, POD1, CRN7 Coronin 7 CORO7 79585 ENSG00000262246 Coro7 (MGI:1926135)
chr16 4371847 4383527 16p13.3 16p13.3 608843 VASN Vasorin VASN 114990 ENSG00000168140 Vasn (MGI:2177651)
chr16 4425804 4456774 16p13.3 16p13.3 608382 DNAJA3, TID1 DNAJ, E. coli, homolog of, subfamily A, member 3 DNAJA3 9093 ENSG00000103423 Dnaja3 (MGI:1933786)
chr16 4474696 4510346 16p13.3 16p13.3 141251 HMOX2 Heme oxygenase 2 HMOX2 3163 ENSG00000103415 Hmox2 (MGI:109373)
chr16 4510674 4538814 16p13.3 16p13.3 610503 C16orf5 Chromosome 16 open reading frame 5 CDIP1 29965 ENSG00000089486 Cdip1 (MGI:1913876)
chr16 4616492 4690973 16p13.3 16p13.3 607559 MGRN1, KIAA0544 Mahogunin, ring finger 1 MGRN1 23295 ENSG00000102858 Mgrn1 (MGI:2447670)
chr16 4688929 4695858 16p13.3 16p13.3 617338 NUDT16L1, SDOS Nudix hydrolase 16-like 1 NUDT16L1 84309 ENSG00000168101 Nudt16l1 (MGI:1914161)
chr16 4696509 4734376 16p13.3 16p13.3 617310 ANKS3 Ankyrin repeat and sterile alpha motif domains-containing protein 3 ANKS3 124401 ENSG00000168096 Anks3 (MGI:1919865)
chr16 4777589 4791609 16p13.3 16p13.3 611562 SEPT12, SPGF10 Septin 12 SEPT12 124404 ENSG00000140623 Spermatogenic failure 10, 614822 (3), Autosomal dominant Sept12 (MGI:1918339)
chr16 4796961 4802949 16p13.3 16p13.3 614574 ROGDI, KTZS Rogdi, Drosophila, homolog of ROGDI 79641 ENSG00000067836 Kohlschutter-Tonz syndrome, 226750 (3), Autosomal recessive Rogdi (MGI:1913299)
chr16 4803202 4848031 16p13.3 16p13.3 610660 GLYR1, NP60 Glyoxylate reductase 1 homolog GLYR1 84656 ENSG00000140632 Glyr1 (MGI:1921272)
chr16 4846664 4882400 16p13.3 16p13.3 609771 UBN1 Ubinuclein 1 UBN1 29855 ENSG00000118900 Ubn1 (MGI:1891307)
chr16 4882506 4937134 16p13 16p13.3 602871 PPL Periplakin PPL 5493 ENSG00000118898 Ppl (MGI:1194898)
chr16 5024843 5033940 16p13.3 16p13.3 607985 NAGPA, UCE N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase NAGPA 51172 ENSG00000103174 Nagpa (MGI:1351598)
chr16 5071808 5087378 16p13.3 16p13.3 605907 ALG1, HMAT1, HMT1, CDG1K Alg1, yeast, homolog of (beta-1,4 mannosyltransferase) ALG1 56052 ENSG00000033011 Congenital disorder of glycosylation, type Ik, 608540 (3), Autosomal recessive Alg1 (MGI:2384774)
chr16 5084297 5097819 16p13.3 16p13.3 615263 EEF2KMT, FAM86A Eukaryotic elongation factor 2 lysine methyltransferase EEF2KMT 196483 ENSG00000118894 Eef2kmt (MGI:1917761)
chr16 5239751 7713342 16p13 16p13.3 605104 RBFOX1, 2BP1, FOX1, HRNBP1 RNA-binding protein FOX1, C. elegans, homolog of, 1 RBFOX1 54715 ENSG00000078328 Rbfox1 (MGI:1926224)
chr16 7800000 10400000 16p13.2 616863 DEL16p13.2, C16DELp13.2 Chromosome 16p13.2 deletion syndrome Chromosome 16p13.2 deletion syndrome, 616863 (4), Autosomal dominant
chr16 8526548 8590192 16p13.3 16p13.2 611579 TMEM114 Transmembrane protein 114 TMEM114 283953 ENSG00000232258 Tmem114 (MGI:1921970)
chr16 8621639 8673564 16p13.2 16p13.2 615261 METTL22, C16orf68 Methyltransferase-like 22 METTL22 79091 Mettl22 (MGI:2384301)
chr16 8674586 8784574 16p13.3 16p13.2 137150 ABAT, GABAT 4-aminobutyrate aminotransferase ABAT 18 ENSG00000183044 GABA-transaminase deficiency, 613163 (3), Autosomal recessive Abat (MGI:2443582)
chr16 8797812 8849336 16p13.3-p13.2 16p13.2 601785 PMM2, CDG1A Phosphomannomutase 2 PMM2 5373 ENSG00000140650 Congenital disorder of glycosylation, type Ia, 212065 (3), Autosomal recessive Pmm2 (MGI:1859214)
chr16 8852941 8869011 16p13.2 16p13.2 616885 CARHSP1, CRHSP24 Calcium-regulated heat-stable protein 1 CARHSP1 23589 ENSG00000153048 Carhsp1 (MGI:1196368)
chr16 8892093 8963911 16p13.3 16p13.2 602519 USP7, HAUSP Ubiquitin-specific protease-7, herpes virus-associated USP7 7874 ENSG00000187555 previously reported to map to 3p21 Usp7 (MGI:2182061)
chr16 9753403 10182927 16p13 16p13.2 138253 GRIN2A, NMDAR2A, FESD, LKS Glutamate receptor, ionotropic, N-methyl D-aspartate 2A GRIN2A 2903 ENSG00000183454 Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3), Autosomal dominant Grin2a (MGI:95820)
chr16 10385998 10483642 16p13.13 16p13.2-p13.1 613645 ATF7IP2, MCAF2 Activating transcription factor 7-interacting protein 2 ATF7IP2 80063 ENSG00000166669 Gm24392,Atf7ip2 (MGI:5454169,MGI:1922579)
chr16 10400000 12500000 16p13.13 617901 DEXI, MYLE Dexamethasone-induced gene
chr16 10528421 10580715 16p13.2 16p13.13 602334 EMP2, NPHS10 Epithelial membrane protein 2 EMP2 2013 ENSG00000213853 Nephrotic syndrome, type 10, 615861 (3), Autosomal recessive Emp2 (MGI:1098726)
chr16 10743163 10769350 16p13.1 16p13.13 600280 NUBP1, NBP Nucleotide-binding protein 1 NUBP1 4682 ENSG00000103274 Nubp1 (MGI:1347073)
chr16 10866207 10941561 16p13 16p13.13 600005 CIITA, MHC2TA, C2TA Class II major histocompatibility complex transactivator CIITA 4261 ENSG00000179583 Bare lymphocyte syndrome, type II, complementation group A, 209920 (3), Autosomal recessive; {Rheumatoid arthritis, susceptibility to}, 180300 (3) Ciita (MGI:108445)
chr16 10944487 11193271 16p13.13 16p13.13 611303 CLEC16A, KIAA0350 C-type lectin domain family 16, member A CLEC16A 23274 ENSG00000038532 Clec16a (MGI:1921624)
chr16 11254416 11256181 16p13.2 16p13.13 603597 SOCS1, SSI1, CIS1, CISH1 Suppressor of cytokine signaling 1 SOCS1 8651 ENSG00000185338 Socs1 (MGI:1354910)
chr16 11267856 11269302 16p13.3 16p13.13 190232 TNP2 Transition protein-2 (during histone to protamine replacement) TNP2 7142 ENSG00000178279 in 13kb segment with PRM1 and PRM2
chr16 11275635 11276479 16p13.3 16p13.13 182890 PRM2 Sperm protamine P2 PRM2 5620 ENSG00000122304 in same 4.8kb fragment as PRM2
chr16 11280835 11281334 16p13.3 16p13.13 182880 PRM1 Sperm protamine P1 PRM1 5619 ENSG00000175646 16q21 = conflicting localization
chr16 11345437 11351762 16p13.13 16p13.13 612426 C16orf75, RMI2, BLAP18 BLM-associated protein, 18kD RMI2 116028 ENSG00000175643 Rmi2 (MGI:2685383)
chr16 11547721 11636376 16p13.3-p12 16p13.13 603795 LITAF, CMT1C LPS-induced TNFA factor LITAF 9516 ENSG00000189067 Charcot-Marie-Tooth disease, type 1C, 601098 (3), Autosomal dominant Litaf (MGI:1929512)
chr16 11668432 11679158 16p13 16p13.13 603032 SNN Stannin SNN 8303 ENSG00000184602 Snn (MGI:1276549)
chr16 11679079 11742877 16p13.13 16p13.13 617792 TXNDC11, EFP1 Thioredoxin domain-containing protein 11 TXNDC11 51061 ENSG00000153066 Txndc11 (MGI:1923620)
chr16 11819829 11828831 16p13.13 16p13.13 613746 BCAR4 Breast cancer antiestrogen resistance 4 BCAR4 400500
chr16 11834195 11851584 16p13 16p13.13 615874 RSL1D1, CSIG, PBK1 Ribosomal L1 domain-containing protein 1 RSL1D1 26156 ENSG00000171490 Rsl1d1 (MGI:1913659)
chr16 11868127 11916661 16p13.1 16p13.13 139259 GSPT1 G1 to S phase transition-1 GSPT1 2935 ENSG00000103342 Gspt1 (MGI:1316728)
chr16 11965106 11968067 16p13.1 16p13.13 109545 TNFRSF17, BCMA Tumor necrosis factor receptor superfamily, member 17 (B-cell maturation factor) TNFRSF17 608 ENSG00000048462 Tnfrsf17 (MGI:1343050)
chr16 12659798 12803886 16p13.12 16p13.12 615603 CPPED1 Calcineurin-like phosphoesterase domain-containing protein 1 CPPED1 55313 ENSG00000103381 Cpped1 (MGI:2443300)
chr16 12901618 13563426 16p13.12 16p13.12 613346 SHISA9, CKAMP44 Shisa family, member 9 SHISA9 729993 ENSG00000237515 Shisa9 (MGI:1919805)
chr16 13920136 13952347 16p13.3-p13.13 16p13.12 133520 ERCC4, XPF, FANCQ, XFEPS Excision-repair, complementing defective, in Chinese hamster, number 4 ERCC4 2072 ENSG00000175595 mutation identified in 1 XFEPS patient Fanconi anemia, complementation group Q, 615272 (3), Autosomal recessive; ?XFE progeroid syndrome, 610965 (3); Xeroderma pigmentosum, group F, 278760 (3), Autosomal recessive; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3), Autosomal recessive Ercc4 (MGI:1354163)
chr16 14071071 14266778 16p13.1 16p13.12 609463 MKL2, MRTFB MKL1/myocardin-like 2 MKL2 57496 ENSG00000186260 Mkl2 (MGI:3050795)
chr16 14303966 14304048 16p13.12 16p13.12 614734 MIR193B Micro RNA 193B MIR193B 574455
chr16 14309284 14309370 16p13.12 16p13.12 614735 MIR365A Micro RNA 365A MIR365A 100126355
chr16 14435699 14630285 16p13.12 16p13.12 604212 PARN, DAN, DKCB6, PFBMFT4 Polyadenylate-specific ribonuclease PARN 5073 ENSG00000140694 Dyskeratosis congenita, autosomal recessive 6, 616353 (3), Autosomal recessive; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3), Autosomal dominant Parn (MGI:1921358)
chr16 14672547 14694661 16p13.1-p12 16p13.12 603603 PLA2G10, SPLA2, GXSPLA2 Phospholipase A2, group X PLA2G10 8399 ENSG00000069764 Pla2g10 (MGI:1347522)
chr16 14833785 14896156 16p13.11 16p13.11 609157 NOMO1 Nodal modulator 1 NOMO1 23420 ENSG00000103512 Nomo1 (MGI:2385850)
chr16 14937442 14952059 16p13.1 16p13.11 606406 NPIP Nuclear pore complex-interacting protein NPIPA1 9284 ENSG00000183426
chr16 14974590 15153342 16p13.11 16p13.11 614244 PDXDC1, KIAA0251 Pyridoxal-dependent decarboxylase domain-containing protein 1 PDXDC1 23042 ENSG00000179889 Pdxdc1 (MGI:1920909)
chr16 15037852 15056078 16p13.11 16p13.11 615367 NTAN1 N-terminal asparagine amidase NTAN1 123803 ENSG00000157045 Ntan1 (MGI:108471)
chr16 15060021 15094334 16p12 16p13.11 605121 RRN3, TIFIA RRN3, S. cerevisiae, homolog of RRN3 54700 ENSG00000085721 Rrn3 (MGI:1925255)
chr16 15594368 15643165 16p13.13 16p13.11 614593 MARF1, KIAA0430, LKAP Meiosis regulator and mRNA stability factor 1 MARF1 9665 ENSG00000166783 Marf1 (MGI:2444505)
chr16 15643266 15726352 16p13.1 16p13.11 609449 NDE1, NUDE, LIS4, MHAC nudE neurodevelopment protein 1 NDE1 54820 ENSG00000072864 mutation identified in 1 MHAC family Lissencephaly 4 (with microcephaly), 614019 (3), Autosomal recessive; ?Microhydranencephaly, 605013 (3), Autosomal recessive Nde1 (MGI:1914453)
chr16 15703134 15857031 16p13.13-p13.12 16p13.11 160745 MYH11, AAT4, FAA4 Myosin, heavy polypeptide-11, smooth muscle MYH11 4629 ENSG00000133392 fused with CBFB by inversion in acute myelomonocytic leukemia Aortic aneurysm, familial thoracic 4, 132900 (3), Autosomal dominant Myh11 (MGI:102643)
chr16 15865718 15888648 16p13.11 16p13.11 617149 FOPNL, FOR20, C16orf63 FGFR1OP N-terminal domain-like protein FOPNL 123811 ENSG00000133393 Fopnl (MGI:1913336)
chr16 15949576 16143073 16p13.1 16p13.11 158343 ABCC1, MRP1, MRP ATP-binding cassette, subfamily C, member 1 (multidrug resistance-associated protein 1) ABCC1 4363 ENSG00000103222 Abcc1 (MGI:102676)
chr16 16149564 16223616 16p13.1 16p13.11 603234 ABCC6, ARA, ABC34, MLP1, PXE, GACI2 ATP-binding cassette, subfamily C, member 6 ABCC6 368 ENSG00000091262 Arterial calcification, generalized, of infancy, 2, 614473 (3), Autosomal recessive; Pseudoxanthoma elasticum, 264800 (3), Autosomal recessive; Pseudoxanthoma elasticum, forme fruste, 177850 (3), Autosomal dominant Abcc6 (MGI:1351634)
chr16 16232531 16294810 16p13.11 16p13.11 609159 NOMO3 Nodal modulator 3 NOMO3 408050 ENSG00000103226 Nomo1 (MGI:2385850)
chr16 16700000 28500000 16p12 136570 DEL16p12.1, C16DELp12.1 Chromosome 16p12.1 deletion syndrome, 520kb between 21.85-22.37 Mb Chromosome 16p12.1 deletion syndrome, 520kb, 136570 (4)
chr16 16700000 35300000 16p12-p11.2 608105 EPRPDC Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 574044 between D16S3133 and D16S3131 Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp, 608105 (2), Autosomal recessive
chr16 16700000 28500000 16p12 611247 MAFD4, BPAD Major affective disorder 4 100126593 max lod at D16S769 Major affective disorder 4, 611247 (2)
chr16 16700000 28500000 16p12.3-p12.1 602594 RP22 Retinitis pigmentosa-22 RP22 6114 Retinitis pigmentosa 22, 602594 (2)
chr16 17102323 17470880 16p13.1 16p12.3 608124 XYLT1, XT1, DBQD2 Xylosyltransferase 1 XYLT1 64131 ENSG00000103489 Desbuquois dysplasia 2, 615777 (3), Autosomal recessive; {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive Xylt1 (MGI:2451073)
chr16 18499923 18562142 16p12.3 16p12.3 609158 NOMO2 Nodal modulator 2 NOMO2 283820 ENSG00000185164 Nomo1 (MGI:2385850)
chr16 18782954 18790333 16p 16p12.3 603674 RPS15A Ribosomal protein S15a RPS15A 6210 ENSG00000134419 Rps15a (MGI:2389091)
chr16 18791666 18801677 16p12-p11.2 16p12.3 607669 ARL6IP1, KIAA0069, SPG61 ADP-ribosylation factor-like 6 interacting protein 1 ARL6IP1 23204 ENSG00000170540 mutation identified in 1 family ?Spastic paraplegia 61, autosomal recessive, 615685 (3), Autosomal recessive Arl6ip1 (MGI:1858943)
chr16 18804852 18926427 16p12 16p12.3 607032 SMG1, LIP, KIAA0421 SMG1, C. elegans, homolog of SMG1 23049 ENSG00000157106 Smg1 (MGI:1919742)
chr16 18983933 19063941 16p12.3 16p12.3 617198 TMC7 Transmembrane channel-like protein 7 TMC7 79905 ENSG00000170537 Tmc7 (MGI:2443317)
chr16 19067594 19080094 16p13.1-p12 16p12.3 601683 COQ7, CLK1, COQ10D8 COQ7, S. cerevisiae, homolog of COQ7 10229 ENSG00000167186 mutation identified in 1 COQ10D8 patient ?Coenzyme Q10 deficiency, primary, 8, 616733 (3), Autosomal recessive Coq7 (MGI:107207)
chr16 19410538 19499112 16p12.3 16p12.3 617197 TMC5 Transmembrane channel-like protein 5 TMC5 79838 ENSG00000103534 Tmc5 (MGI:1921674)
chr16 19501692 19522144 16p12-p11.2 16p12.3 605943 GDE1, MIR16 Glycerophosphodiester phosphodiesterase 1 GDE1 51573 ENSG00000006007 Gde1 (MGI:1891827)
chr16 19523856 19553407 16p12.3 16p12.3 609544 CCP110, CP110, KIAA0419 Centrosomal coiled-coil protein, 110kD CCP110 9738 ENSG00000103540 Ccp110 (MGI:2141942)
chr16 19858970 19886044 16p12.3-p12.1 16p12.3 605948 GPRC5B, RAIG2 G protein-coupled receptor, family C, group 5, member B GPRC5B 51704 ENSG00000167191 Gprc5b (MGI:1927596)
chr16 20309573 20327804 16p12.3 16p12.3 602977 GP2 Glycoprotein 2, zymogen granule membrane GP2 2813 ENSG00000169347 previously assigned to chr.9 Gp2 (MGI:1914383)
chr16 20333050 20356300 16p12.3 16p12.3 191845 UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2 Uromodulin (uromucoid, Tamm-Horsfall glycoprotein) UMOD 7369 ENSG00000169344 Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3); Hyperuricemic nephropathy, familial juvenile 1, 162000 (3), Autosomal dominant; Medullary cystic kidney disease 2, 603860 (3) Umod (MGI:102674)
chr16 20409533 20441332 16p12.3 16p12.3 614361 ACSM5 Acyl-CoA synthetase medium-chain family, member 5 ACSM5 54988 ENSG00000183549 Acsm5 (MGI:2444086)
chr16 20451460 20487668 16p12.3 16p12.3 614358 ACSM2A Acyl-CoA synthetase medium-chain family, member 2A ACSM2A 123876 ENSG00000183747 Acsm2 (MGI:2385289)
chr16 20536757 20576375 16p12.3 16p12.3 614359 ACSM2B, HXMA Acyl-CoA synthetase medium-chain family, member 2B ACSM2B 348158 ENSG00000066813
chr16 20623234 20697787 16p12.3 16p12.3 614357 ACSM1, MACS1 Acyl-CoA synthetase medium-chain family, member 1 ACSM1 116285 ENSG00000166743 Acsm1 (MGI:2152200)
chr16 20730588 20741963 16p12.3 16p12.3 616662 THUMPD1 THUMP domain-containing protein 1 THUMPD1 55623 ENSG00000066654 Thumpd1 (MGI:2444479)
chr16 20742439 20797810 16p13.11 16p12.3 145505 ACSM3, SAH Acyl-CoA synthetase medium-chain family member 3 ACSM3 6296 ENSG00000005187 {?Hypertension, essential} (1) Acsm3 (MGI:99538)
chr16 20854924 20900357 16p12.3 16p12.3 616167 DCUN1D3, SCCRO3 DCN1 domain-containing protein 3 DCUN1D3 123879 ENSG00000188215 Dcun1d3 (MGI:2679003)
chr16 20899625 20925005 16p12.3 16p12.3 614709 LYRM1 LYR motif-containing protein 1 LYRM1 57149 ENSG00000102897 Lyrm1 (MGI:1921169)
chr16 20933110 21159536 16p12 16p12.3 603334 DNAH3, DNAHC3B Dynein, axonemal, heavy chain 3 DNAH3 55567 ENSG00000158486 Dnah3 (MGI:2683040)
chr16 21158348 21180615 16p12.3 16p12.3 611304 TMEM159 Transmembrane protein 159 TMEM159 57146 ENSG00000011638 Tmem159 (MGI:1925752)
chr16 21197449 21214509 16p12 16p12.3-p12.2 182888 ZP2 Zona pellucida glycoprotein 2 ZP2 7783 ENSG00000103310 Zp2 (MGI:99214)
chr16 21200000 35300000 16p12.2-p11.2 613604 DEL16p12.1p11.2, C16DELp12.1p11.2 Chromosome 16p12.2-p11.2 deletion syndrome 17.1-8.7 Mb contiguous gene deletion syndrome Chromosome 16p12.2-p11.2 deletion syndrome, 613604 (4), Isolated cases
chr16 21200000 52600000 16p12.2-q12.1 611096 MRT10, MRT20 611096 MRT10 100101425 between rs724466 and rs3901517, rs7197568 and rs71972227 Mental retardation, autosomal recessive 10/20, 611096 (2), Autosomal recessive
chr16 21233694 21252428 16p12.2 16p12.2 609901 ANKS4B, HARP, FLJ38819 Ankyrin repeat and sterile alpha motif domain-containing protein 4B ANKS4B 257629 ENSG00000175311 Anks4b (MGI:1919324)
chr16 21258517 21303135 16p13.11-p12.3 16p12.2 123740 CRYM, DFNA40 Crystallin, mu CRYM 1428 ENSG00000103316 Deafness, autosomal dominant 40, 616357 (3), Autosomal dominant Crym (MGI:102675)
chr16 21597220 21657472 16p12.2 16p12.2 609388 METTL9, DREV Methyltransferase-like 9 METTL9 51108 ENSG00000197006 Mettl9 (MGI:1914862)
chr16 21641283 21652665 16p13 16p12.2 606222 IGSF6, DORA Immunoglobulin superfamily, member 6 IGSF6 10261 ENSG00000140749 Igsf6 (MGI:1891393)
chr16 21664132 21762624 16p12.2 16p12.2 607038 OTOA, DFNB22 Otoancorin OTOA 146183 ENSG00000155719 Deafness, autosomal recessive 22, 607039 (3), Autosomal recessive Otoa (MGI:2149209)
chr16 21953063 21983659 16p12 16p12.2 191329 UQCRC2, MC3DN5 Ubiquinol-cytochrome c reductase core protein II UQCRC2 7385 ENSG00000140740 Mitochondrial complex III deficiency, nuclear type 5, 615160 (3), Autosomal recessive Uqcrc2 (MGI:1914253)
chr16 22206270 22288744 Chr.16 16p12.2 606968 EEF2K Elongation factor 2 kinase EEF2K 29904 ENSG00000103319 Eef2k (MGI:1195261)
chr16 22297374 22335102 16p12.2 16p12.2 617815 POLR3E, SIN, KIAA1452 Polymerase III, RNA, subunit E POLR3E 55718 ENSG00000058600 Polr3e (MGI:1349452)
chr16 22345935 22374616 16p13.1-p12 16p12.2 117340 CDR2 Cerebellar degeneration-related antigen-2, 62kD CDR2 1039 ENSG00000140743 Cdr2 (MGI:1100885)
chr16 22814165 22916337 16p12 16p12.2 604056 HS3ST2, 30ST2 Heparan sulfate D-glucosaminyl 3-0-sulfotransferase 2 HS3ST2 9956 ENSG00000122254 Hs3st2 (MGI:1333802)
chr16 23182718 23216878 16p13-p12 16p12.2 600761 SCNN1G, PHA1, BESC3 Sodium channel, nonvoltage-gated 1, gamma SCNN1G 6340 ENSG00000166828 same 400kb fragment as SCNN1B Bronchiectasis with or without elevated sweat chloride 3, 613071 (3), Autosomal dominant; Liddle syndrome, 177200 (3), Autosomal dominant; Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive Scnn1g (MGI:104695)
chr16 23278230 23381298 16p13-p12 16p12.2 600760 SCNN1B, BESC1 Sodium channel, nonvoltage-gated 1, beta SCNN1B 6338 ENSG00000168447 Bronchiectasis with or without elevated sweat chloride 1, 211400 (3), Autosomal dominant; Liddle syndrome, 177200 (3), Autosomal dominant; Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive Scnn1b (MGI:104696)
chr16 23388492 23453214 16p 16p12.2 606978 COG7, CDG2E Component of oligomeric golgi complex 7 COG7 91949 ENSG00000168434 Congenital disorder of glycosylation, type IIe, 608779 (3) Cog7 (MGI:2685013)
chr16 23522012 23557374 16p13.1-p11.2 16p12.2 612799 EARS2, KIAA1970, COXPD12 Glutamyl-tRNA synthetase 2 EARS2 124454 ENSG00000103356 Combined oxidative phosphorylation deficiency 12, 614924 (3), Autosomal recessive Ears2 (MGI:1914667)
chr16 23581011 23596328 16p12.3-p12.1 16p12.2 603836 NDUFAB1 NADH-ubiquinone oxidoreductase 1, alpha/beta subcomplex, 1 NDUFAB1 4706 ENSG00000004779 Ndufab1,Ndufab1-ps (MGI:1917566,MGI:4936891)
chr16 23603161 23641356 16p12 16p12.2 610355 PALB2, FANCN, PNCA3 Partner and localizer of BRCA2 PALB2 79728 ENSG00000083093 {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; Fanconi anemia, complementation group N, 610832 (3); {Pancreatic cancer, susceptibility to, 3}, 613348 (3) Palb2 (MGI:3040695)
chr16 23641365 23676206 16p12.2 16p12.2 612962 DCTN5, p25 Dynactin 5 DCTN5 84516 ENSG00000166847 Dctn5 (MGI:1891689)
chr16 23678771 23690366 16p12.2 16p12.2 602098 PLK1, STPK13 Polo-like kinase 1 PLK1 5347 ENSG00000166851 Plk1 (MGI:97621)
chr16 23690303 23713499 16p12.2 16p12.2 604034 ERN2 Endoplasmic reticulum-to-nucleus signaling 2 ERN2 10595 ENSG00000134398 Ern2 (MGI:1349436)
chr16 23835978 24220610 16p11.2 16p12.2-p12.1 176970 PRKCB1, PKCB Protein kinase C, beta 1 polypeptide PRKCB 5579 ENSG00000166501 Prkcb (MGI:97596)
chr16 24200000 35300000 16p12.1-p11.2 157700 MMVP1, MVP, PMV Mitral valve prolapse, myxomatous 1 MMVP1 50951 Mitral valve prolapse, myxomatous 1, 157700 (2), Autosomal dominant
chr16 24255552 24362415 16p13.1-p12 16p12.1 606403 CACNG3 Calcium channel, voltage-dependent, gamma-3 subunit CACNG3 10368 ENSG00000006116 Cacng3 (MGI:1859165)
chr16 24539586 24572862 16p12-p11.2 16p12.1 600938 RBBP6 Retinoblastoma-binding protein-6 RBBP6 5930 ENSG00000122257 Rbbp6 (MGI:894835)
chr16 24610208 24826226 16p12 16p12.1 610739 TNRC6A, GW182, KIAA1460 Trinucleotide repeat-containing gene 6A TNRC6A 27327 ENSG00000090905 Tnrc6a (MGI:2385292)
chr16 24845862 24911627 16p12.1 16p12.1 610238 SLC5A11, KST1, SGLT6, SMIT2 Solute carrier family 5 (sodium/glucose cotransporter), member 11 SLC5A11 115584 ENSG00000158865 Slc5a11 (MGI:1919316)
chr16 24919383 25015600 16p12.2 16p12.1 608293 ARHGAP17, RICH1 RHO GTPase-activating protein 17 ARHGAP17 55114 ENSG00000140750 Arhgap17 (MGI:1917747)
chr16 25111701 25178230 16p12.3-p12.1 16p12.1 610286 LCMT1 Leucine carboxyl methyltransferase 1 LCMT1 51451 ENSG00000205629 Lcmt1 (MGI:1353593)
chr16 25216916 25228931 16p12-p11.2 16p12.1 603750 AQP8 Aquaporin 8 AQP8 343 ENSG00000103375 Aqp8 (MGI:1195271)
chr16 25692025 26137687 16p11.2 16p12.1 604059 HS3ST4, 30ST4 Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4 HS3ST4 9951 ENSG00000182601 Hs3st4 (MGI:1333792)
chr16 27203485 27222304 16p12.1 16p12.1 611917 JMJD5 Jumonji domain-containing protein 5 KDM8 79831 ENSG00000155666 Kdm8 (MGI:1924285)
chr16 27224993 27268791 16p12.1 16p12.1 617263 NSMCE1, NSE1 Non-SMC element 1, S. cerevisiae, homolog of NSMCE1 197370 ENSG00000169189 Nsmce1 (MGI:1914961)
chr16 27313667 27364777 16p12.1-p11.2 16p12.1 147781 IL4R, IL4RA Interleukin-4 receptor IL4R 3566 ENSG00000077238 {AIDS, slow progression to}, 609423 (3); {Atopy, susceptibility to}, 147050 (3), Autosomal dominant Il4ra (MGI:105367)
chr16 27402161 27452042 16p11 16p12.1 605383 IL21R, IMD56 Interleukin 21 receptor IL21R 50615 ENSG00000103522 fusion partner with BCL6 [IgE, elevated level of], 147050 (3), Autosomal dominant; Immunodeficiency 56, 615207 (3), Autosomal recessive Il21r (MGI:1890475)
chr16 27460612 27549929 16p12.1 16p12.1 603246 GTF3C1 General transcription factor 3C, polypeptide 1 GTF3C1 2975 ENSG00000077235 Gtf3c1 (MGI:107887)
chr16 27550127 27780370 16p12.1 16p12.1 616650 KATNIP, KIAA0556 Katanin-interacting protein KIAA0556 23247 ENSG00000047578 Joubert syndrome 26, 616784 (3), Autosomal recessive D430042O09Rik (MGI:2442760)
chr16 27787528 28063508 16p12.1 16p12.1 617161 GSG1L GSG1-like protein GSG1L 146395 ENSG00000169181 Gsg1l (MGI:2685483)
chr16 28097975 28212030 16p12.1 16p12.1 608411 XPO6, EXP6, KIAA0370 Exportin 6 XPO6 23214 ENSG00000169180 Xpo6 (MGI:2429950)
chr16 28466652 28492301 16p12.1 16p12.1 607042 CLN3, BTS Battenin CLN3 1201 ENSG00000188603 Ceroid lipofuscinosis, neuronal, 3, 204200 (3), Autosomal recessive Cln3 (MGI:107537)
chr16 28494648 28498969 16p11.2 16p12.1 605220 APOBR, APOB48R Apolipoprotein B receptor APOBR 55911 ENSG00000184730 Apobr (MGI:2176230)
chr16 28499361 28526729 16p11 16p12.1-p11.2 608273 IL27, IL30 Interleukin 27 IL27 246778 ENSG00000197272 Il27 (MGI:2384409)
chr16 28500000 35300000 16p11.2 613444 BMIQ16, DEL16p.11.2, C16DELp11.2 Chromosome 16p11.2 deletion syndrome, 220kb [Body mass index QTL16], 613444 (4); Chromosome 16p11.2 deletion syndrome, 220kb, 613444 (4)
chr16 28500000 35300000 16p11.2 611913 DEL16p11.2, C16DELp11.2, AUTS14A Chromosome 16p11.2 deletion syndrome, 593kb {Autism susceptibility 14A}, 611913 (2); Chromosome 16p11.2 deletion syndrome, 593kb, 611913 (4)
chr16 28500000 35300000 16p11.2 614671 DUP16p11.2, C16DUPp11.2, AUTS14B Chromosome 16p11.2 duplication syndrome {Autism, susceptibility to, 14B}, 614671 (2); Chromosome 16p11.2 duplication syndrome, 614671 (4)
chr16 28500000 36800000 16p11 615835 INV16p11 Chromosome 16p11 inversion (0.45Mb)
chr16 28537340 28539173 16p11.2 16p11.2 614812 NUPR1, COM1, p8 Nuclear protein, transcriptional regulator, 1 NUPR1 26471 ENSG00000176046 Nupr1 (MGI:1891834)
chr16 28553914 28591789 16p11.2 16p11.2 613374 CCDC101, STAF36 Coiled-coil domain-containing protein 101 SGF29 112869 ENSG00000176476 Sgf29 (MGI:1922815)
chr16 28591942 28597085 16p12.1-p11.2 16p11.2 601292 SULT1A2, STP2 Sulfotransferase family 1A, phenol-preferring, member 2 SULT1A2 6799 ENSG00000197165 45kb from STP1
chr16 28605586 28623585 16p12.1-p11.2 16p11.2 171150 SULT1A1, STP1, STP, PST Sulfotransferase family 1A, phenol-preferring, member 1 SULT1A1 6817 ENSG00000196502
chr16 28688557 28735729 16p11.2 16p11.2 603916 EIF3C, EIF3S8 Eukaryotic translation initiation factor 3, subunit C EIF3C 8663 ENSG00000184110 Eif3c (MGI:1926966)
chr16 28823047 28837236 16p11 16p11.2 607931 ATXN2L, A2D Ataxin 2-like ATXN2L 11273 ENSG00000168488 pseudogene at 7p21 Atxn2l (MGI:2446242)
chr16 28842410 28859561 16p11.2 16p11.2 602389 TUFM, EFTU, COXPD4 Tu translation elongation factor, mitochondrial TUFM 7284 ENSG00000178952 pseudogene on chr.17 Combined oxidative phosphorylation deficiency 4, 610678 (3), Autosomal recessive Tufm (MGI:1923686)
chr16 28846599 28874212 16p11.2 16p11.2 608937 SH2B1, SH2B, KIAA1299 SH2B adaptor protein 1 SH2B1 25970 ENSG00000178188 Sh2b1 (MGI:1201407)
chr16 28878487 28904508 16p12 16p11.2 108730 ATP2A1, SERCA1 ATPase, Ca++ transporting, fast-twitch, 1 ATP2A1 487 ENSG00000196296 Brody myopathy, 601003 (3), Autosomal recessive Atp2a1 (MGI:105058)
chr16 28904420 28925210 16p11.2 16p11.2 611869 RABEP2 RAB GTPase-binding effector protein 2 RABEP2 79874 ENSG00000177548 Rabep2 (MGI:1917564)
chr16 28931734 28939346 16p11.2 16p11.2 107265 CD19, CVID3 CD19 antigen CD19 930 ENSG00000177455 Immunodeficiency, common variable, 3, 613493 (3), Autosomal recessive Cd19 (MGI:88319)
chr16 28950991 28966464 16p11.2 16p11.2 614525 NFATC2IP, NIP45 NFATC2-interacting protein NFATC2IP 84901 ENSG00000176953 Nfatc2ip (MGI:1329015)
chr16 28973998 28984768 16p11.2 16p11.2 612583 SPNS1, SPIN1 Spinster, Drosophila, homolog of, 1 SPNS1 83985 ENSG00000169682 Spns1 (MGI:1920908)
chr16 28984825 28990782 16p11.2 16p11.2 602354 LAT, IMD52 Linker for activation of T cells LAT 27040 ENSG00000213658 Immunodeficiency 52, 617514 (3), Autosomal recessive Lat (MGI:1342293)
chr16 29453587 29454963 16p11.2 16p11.2 613182 BOLA2 BolA, E. coli, homolog of, 2 BOLA2 552900 ENSG00000183336
chr16 29454500 29458223 16p11.2 16p11.2 615823 SLX1B, GIYD2 SLX1 structure-specific endonuclease subunit, S. cerevisiae, homolog of, B SLX1B 79008 ENSG00000181625 Slx1b (MGI:1915220)
chr16 29459885 29464979 16p11.2 16p11.2 615819 SULT1A4 Sulfotransferase family 1A, cytosolic, phenol-preferring, member 4 SULT1A4 445329 ENSG00000213648
chr16 29662949 29670875 16p11.2 16p11.2 182160 SPN, LSN, CD43 Sialophorin (leukosialin) SPN 6693 ENSG00000197471 Spn (MGI:98384)
chr16 29670587 29698698 16p11.2 16p11.2 606248 QPRT Quinolinate phosphoribosyltransferase QPRT 23475 ENSG00000103485 Qprt (MGI:1914625)
chr16 29760803 29781647 16p11.2 16p11.2 617311 ZG16, ZG16A, JCLN1 Zymogen granule protein, 16-kD ZG16 653808 ENSG00000174992 Zg16 (MGI:1916286)
chr16 29790712 29805542 16p11.2 16p11.2 603213 KIF22, KNSL4, KID, OBP, SEMDJL2 Kinesin family member 22 KIF22 3835 ENSG00000079616 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3), Autosomal dominant Kif22 (MGI:109233)
chr16 29806080 29811182 16p11.2 16p11.2 600999 MAZ, ZF87, PUR1 MYC-associated zinc finger protein MAZ 4150 ENSG00000103495 Maz (MGI:1338823)
chr16 29812087 29815919 16p11.2 16p11.2 614386 PRRT2, PKC, DYT10, EKD1, BFIS2, BFIC2, ICCA Proline-rich transmembrane protein 2 PRRT2 112476 ENSG00000167371 Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3), Autosomal dominant; Episodic kinesigenic dyskinesia 1, 128200 (3), Autosomal dominant; Seizures, benign familial infantile, 2, 605751 (3), Autosomal dominant Prrt2 (MGI:1916267)
chr16 29816206 29822494 16p11.2 16p11.2 612033 PAGR1, C16orf53, PA1 PAXIP1-associated glutamate-rich protein 1 PAGR1 79447 ENSG00000280789 Pagr1a (MGI:1914528)
chr16 29820393 29848038 16p13.1-p11.2 16p11.2 605088 MVP, LRP Major vault protein, rat, homolog of MVP 9961 ENSG00000013364 Mvp (MGI:1925638)
chr16 29871158 29899572 16p11.2 16p11.2 616667 SEZ6L2, BSRPA SEZ6-like protein 2 SEZ6L2 26470 ENSG00000174938 Sez6l2 (MGI:2385295)
chr16 29906334 29926231 16p11.2 16p11.2 608947 KCTD13, POLDIP1, FKSG86 Potassium channel tetramerization domain-containing 13 KCTD13 253980 ENSG00000174943 Kctd13 (MGI:1923739)
chr16 29973866 29992260 16p13.1-p12 16p11.2 613199 TAOK2, TAO2, KIAA0881, PSK, PSK1 Tao kinase 2 TAOK2 9344 ENSG00000149930 Taok2 (MGI:1915919)
chr16 29992320 29996095 16p11.2 16p11.2 603365 HIRIP3 HIRA-interacting protein 3 HIRIP3 8479 ENSG00000149929 Hirip3 (MGI:2142364)
chr16 30005513 30023279 16p11.2 16p11.2 604567 DOC2A Double C2-like domain-containing protein, alpha DOC2A 8448 ENSG00000149927 Doc2a (MGI:109446)
chr16 30024422 30053025 16p11.2 16p11.2 615175 FAM57B Family with sequence similarity 57, member B FAM57B 83723 ENSG00000149926 Fam57b (MGI:1916202)
chr16 30053089 30070419 16p11.2 16p11.2 103850 ALDOA, GSD12 Aldolase A, fructose-bisphosphatase ALDOA 226 ENSG00000149925 pseudogenes on 3 and 10 Glycogen storage disease XII, 611881 (3), Autosomal recessive Aldoa (MGI:87994)
chr16 30075975 30085376 16p12-p11 16p11.2 602035 PPP4C, PP4, PPX Protein phosphatase 4, catalytic subunit PPP4C 5531 ENSG00000149923 Ppp4c (MGI:1891763)
chr16 30085792 30091926 16p11.2 16p11.2 602427 TBX6, SCDO5 T-box 6 TBX6 6911 ENSG00000149922 Spondylocostal dysostosis 5, 122600 (3), Autosomal recessive, Autosomal dominant Tbx6 (MGI:102539)
chr16 30092313 30096215 16p11.2 16p11.2 609724 YPEL3 Yippee-like 3 YPEL3 83719 ENSG00000090238 Ypel3 (MGI:1913340)
chr16 30104809 30113556 16p11.2 16p11.2 616318 GDPD3, GDE7 Glycerophosphodiester phosphodiesterase domain-containing protein 3 GDPD3 79153 ENSG00000102886 Gdpd3 (MGI:1915866)
chr16 30114104 30123308 16p11.2 16p11.2 601795 MAPK3, PRKM3, ERK1 Mitogen-activated protein kinase 3 MAPK3 5595 ENSG00000102882 Mapk3 (MGI:1346859)
chr16 30183409 30189075 16p11.2 16p11.2 605000 CORO1A, TACO, CLIPINA, IMD8 Coronin 1A CORO1A 11151 ENSG00000102879 Immunodeficiency 8, 615401 (3), Autosomal recessive Coro1a (MGI:1345961)
chr16 30193842 30197565 16p11.2 16p11.2 615822 SLX1A, GIYD1 SLX1 structure-specific endonuclease subunit, S. cerevisiae, homolog of, A SLX1A 548593 ENSG00000132207 Slx1b (MGI:1915220)
chr16 30199227 30204328 16p11.2 16p11.2 600641 SULT1A3, STM Sulfotransferase family 1A, phenol-preferring, member 3 SULT1A3 6818 ENSG00000261052
chr16 30350765 30355360 16p11.2 16p11.2 604470 CD2BP2 CD2 antigen-binding protein 2 CD2BP2 10421 ENSG00000169217 Cd2bp2 (MGI:1917483)
chr16 30357100 30370465 16p11.2 16p11.2 613620 TBC1D10B TBC1 domain family, member 10B TBC1D10B 26000 ENSG00000169221 Tbc1d10b (MGI:1915699)
chr16 30370933 30377990 16p11.2 16p11.2 617378 MYLPF, MLC2B, MRLC2, MYL11 Myosin light chain, phosphorylatable, fast skeletal muscle MYLPF 29895 ENSG00000180209 Mylpf (MGI:97273)
chr16 30378132 30382849 16p11.2 16p11.2 612897 SEPT1, DIFF6 Septin 1 SEPT1 1731 ENSG00000180096 Sept1 (MGI:1858916)
chr16 30423697 30430051 16p11.2 16p11.2 615840 DCTPP1 dCTP pyrophosphatase 1 DCTPP1 79077 ENSG00000179958 Dctpp1 (MGI:1913672)
chr16 30443624 30445974 16p11.2 16p11.2 606218 SEPHS2, SPS2 Selenophosphate synthetase 2 SEPHS2 22928 ENSG00000179918 Sephs2 (MGI:108388)
chr16 30472661 30523184 16p11.2 16p11.2 153370 ITGAL, CD11A, LFA1A Integrin, alpha-L (antigen CD11A (p180), lymphocyte function-associated antigen-1, alpha polypeptide) ITGAL 3683 ENSG00000005844 Itgal (MGI:96606)
chr16 30650701 30656439 16p11.2 16p11.2 617423 PRR14 Proline-rich protein 14 PRR14 78994 ENSG00000156858 Prr14 (MGI:2384565)
chr16 30658430 30670809 16p11.2 16p11.2 608601 FBRS, FBS1 Fibrosin FBRS 64319 ENSG00000156860 Fbrs (MGI:104648)
chr16 30699140 30740128 16p11.2 16p11.2 611421 SRCAP, SWR1, KIAA0309, FLHS SNF2-related CBP activator protein SRCAP 10847 ENSG00000080603 Floating-Harbor syndrome, 136140 (3), Autosomal dominant Srcap (MGI:2444036)
chr16 30748298 30761175 16p12.1-p11.2 16p11.2 172471 PHKG2, GSD9C Phosphorylase kinase, gamma 2 (testis/liver) PHKG2 5261 ENSG00000156873 Cirrhosis due to liver phosphorylase kinase deficiency (3); Glycogen storage disease IXc, 613027 (3), Autosomal recessive Phkg2 (MGI:1916211)
chr16 30761611 30800230 16p11.2 16p11.2 607700 RNF40, BRE1B, RBP95, KIAA0661 Ring finger protein 40 RNF40 9810 ENSG00000103549 Rnf40 (MGI:2142048)
chr16 30834040 30894715 16p11 16p11.2 605847 BCL7C B-cell CLL/lymphoma 7C BCL7C 9274 ENSG00000099385 Bcl7c (MGI:1332237)
chr16 30895823 30903559 16p11.2-p11.1 16p11.2 600435 CTF1, CT1 Cardiotrophin 1 CTF1 1489 ENSG00000150281 Ctf1 (MGI:105115)
chr16 30923054 30948782 16p11.2 16p11.2 609085 FBXL19, FBL19 F-box and leucine-rich repeat protein 19 FBXL19 54620 ENSG00000099364 Fbxl19 (MGI:3039600)
chr16 30949083 30954937 16p11.2 16p11.2 610930 ORAI3, TMEM142C ORAI calcium release-activated calcium modulator 3 ORAI3 93129 ENSG00000175938 Orai3 (MGI:3039586)
chr16 30956617 30984663 16p11.2 16p11.2 611052 SETD1A, SET1A, SET1, KIAA0339 SET domain-containing protein 1A SETD1A 9739 ENSG00000099381 Setd1a (MGI:2446244)
chr16 30985188 30989151 16p12-p11.2 16p11.2 607764 HSD3B7, CBAS1 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase HSD3B7 80270 ENSG00000099377 Bile acid synthesis defect, congenital, 1, 607765 (3), Autosomal recessive Hsd3b7 (MGI:2141879)
chr16 30989255 31010637 16p11.2 16p11.2 601485 STX1B, GEFSP9 Syntaxin 1B STX1B 112755 ENSG00000099365 Generalized epilepsy with febrile seizures plus, type 9, 616172 (3), Autosomal dominant Stx1b (MGI:1930705)
chr16 31033094 31040167 16p11.2 16p11.2 186591 STX4, STX4A Syntaxin 4 STX4 6810 ENSG00000103496 Stx4a (MGI:893577)
chr16 31060842 31074319 16p11.2 16p11.2 617103 ZNF668 Zinc finger protein 668 ZNF668 79759 ENSG00000167394 Zfp668 (MGI:2442943)
chr16 31083423 31089651 16p11.2 16p11.2 610561 PRSS53, POL3S Protease, serine, 53 PRSS53 339105 ENSG00000151006 Prss53 (MGI:2652890)
chr16 31090841 31094998 16p11.2 16p11.2 608547 VKORC1, VKOR, VKCFD2, FLJ00289 Vitamin K epoxide reductase complex, subunit 1 VKORC1 79001 ENSG00000167397 Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3); Warfarin resistance, 122700 (3), Autosomal dominant Vkorc1 (MGI:106442)
chr16 31108293 31117650 16p11.2 16p11.2 614901 BCKDK, BDK, BCKDKD Branched-chain alpha-keto acid dehydrogenase kinase BCKDK 10295 ENSG00000103507 Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3) Bckdk (MGI:1276121)
chr16 31117663 31131392 16p11.2 16p11.2 609912 KAT8, MYST1, MOF K(lysine) acetyltransferase 8 KAT8 84148 ENSG00000103510 Kat8 (MGI:1915023)
chr16 31131432 31135761 16p11.2 16p11.2 600823 PRSS8 Protease, serine, 8 (prostasin) PRSS8 5652 ENSG00000052344 Prss8 (MGI:1923810)
chr16 31138925 31150093 16p11.2 16p11.2 610560 PRSS36 Protease, serine, 36 PRSS36 146547 ENSG00000178226 Prss36 (MGI:1924863)
chr16 31180109 31194870 16p11.2 16p11.2 137070 FUS, TLS, ALS6, ETM4 Fusion, derived from 12-16 translocation, malignant liposarcoma FUS 2521 ENSG00000089280 fused with DDIT3 in myxoid liposarcoma, with ERG in leukemia, and ATF1 in angiomatoid fibrous histiocytoma Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3); Essential tremor, hereditary, 4, 614782 (3), Autosomal dominant
chr16 31201485 31202775 16p12-p11.2 16p11.2 606838 PYCARD, TMS1, ASC PYD and CARD domain-containing protein (target of methylation-induced silencing 1) PYCARD 29108 ENSG00000103490 Pycard (MGI:1931465)
chr16 31214020 31225655 16p11.2 16p11.2 613288 TRIM72, MG53 Tripartite motif-containing protein 72 TRIM72 493829 ENSG00000177238 Trim72 (MGI:3612190)
chr16 31215961 31217092 16p12.1 16p11.2 615700 PYDC1, POP1, PYC1, ASC2 Pyrin domain-containing protein 1 PYDC1 260434 ENSG00000169900
chr16 31259966 31332891 16p11.2 16p11.2 120980 ITGAM, CR3A, CD11B, MAC1A, SLEB6 Integrin, alpha-M (complement component receptor-3, alpha; antigen CD11B (p170); macrophage antigen, alpha polypeptide) ITGAM 3684 ENSG00000169896 ?in same restriction fragment as LFA1A {Systemic lupus erythematous, association with susceptibility to, 6}, 609939 (3) Itgam (MGI:96607)
chr16 31355133 31382996 16p11.2 16p11.2 151510 ITGAX, CD11C Integrin, alpha-X (antigen CD11C (p150), alpha polypeptide) ITGAX 3687 ENSG00000140678 Itgax (MGI:96609)
chr16 31393222 31426512 16p11.2 16p11.2 602453 ITGAD, CD11D Integrin, alpha D ITGAD 3681 ENSG00000156886 Itgad (MGI:3578624)
chr16 31427730 31428427 16p11.2 16p11.2 602009 COX6A2 Cytochrome c oxidase, subunit 6A2 COX6A2 1339 ENSG00000156885 Cox6a2 (MGI:104649)
chr16 31458272 31467166 16p11.2 16p11.2 615549 ARMC5, AIMAH2 Armadillo repeat-containing protein 5 ARMC5 79798 ENSG00000140691 ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3), Autosomal dominant, Somatic mutation Armc5 (MGI:2384586)
chr16 31472154 31477959 16p11.2 16p11.2 602353 TGFB1I1, ARA55, HIC5 Transforming growth factor, beta-1-induced 1 TGFB1I1 7041 ENSG00000140682 Tgfb1i1 (MGI:102784)
chr16 31482534 31490769 16p11.2 16p11.2 182381 SLC5A2, SGLT2 Solute carrier family 5 (sodium/glucose cotransporter), member 2 SLC5A2 6524 ENSG00000140675 Renal glucosuria, 233100 (3), Autosomal recessive, Autosomal dominant Slc5a2 (MGI:2181411)
chr16 31527851 31528803 16p11.2 16p11.2 605821 ERAF, EDRF, AHSP Erythroid-associated factor (alpha-hemoglobin stabilizing protein) AHSP 51327 ENSG00000169877
chr16 31873757 31917950 Chr.16 16p11.2 604752 ZNF267, HZF2 Zinc finger protein-167 ZNF267 10308 ENSG00000185947 D3Ertd254e (MGI:1098769)
chr16 32673527 32678620 16p13 16p11.2 617482 TP53TG3 TP53 target gene 3 TP53TG3 24150 ENSG00000183632
chr16 36800000 74100000 16q11-q22 610753 AA2 Alopecia areata 2 100034703 max lod at D16S415 Alopecia areata 2, 610753 (2), Autosomal recessive, Autosomal dominant
chr16 36800000 74100000 16q11.1-q22 126900 DUPC1 Dupuytren contracture 1 780895 max lod at D16S415 Dupuytren contracture 1, 126900 (2), Autosomal dominant
chr16 36800000 90338345 16q 610707 PSORS8 Psoriasis susceptibility 8 PSORS8 140454 proximal to D16S3034 {Psoriasis susceptibility 8}, 610707 (2)
chr16 36800000 90338345 16q 606711 SLI1 Specific language impairment QTL, 1 171013 Specific language impairment QTL, 1, 606711 (2), Multifactorial
chr16 36800000 90338345 16q 194090 WT3 Wilms tumor-3 8136 loss of heterozygosity Wilms tumor, type 3, 194090 (2), Autosomal dominant
chr16 46578590 46621401 16q11.2 16q11.2 611027 SHCBP1, PAL SHC SH2 domain-binding protein 1 SHCBP1 79801 ENSG00000171241 Shcbp1 (MGI:1338802)
chr16 46657978 46689231 16q11.2 16q11.2 601501 VPS35, MEM3, PARK17 Vacuolar protein sorting 35, yeast, homolog of VPS35 55737 ENSG00000069329 {Parkinson disease 17}, 614203 (3), Autosomal dominant Vps35 (MGI:1890467)
chr16 46689645 46698393 16q12 16q11.2 607213 ORC6, ORC6L Origin recognition complex, subunit 6, S. cerevisiae, homolog of ORC6 23594 ENSG00000091651 Meier-Gorlin syndrome 3, 613803 (3), Autosomal recessive Orc6 (MGI:1929285)
chr16 46702281 46763245 16q11.2 16q11.2 612147 MYLK3, MLCK Myosin light chain kinase 3 MYLK3 91807 ENSG00000140795 Mylk3 (MGI:2443063)
chr16 46884379 46931296 16q12.1 16q11.2 138210 GPT2, ALT2, MRT49 Glutamate pyruvate transaminase 2 GPT2 84706 ENSG00000166123 Mental retardation, autosomal recessive 49, 616281 (3), Autosomal recessive Gpt2 (MGI:1915391)
chr16 46955361 46973713 16q12.1 16q11.2 611322 DNAJA2, DJ3, CPR3 DNAJ/HSP40 homolog, subfamily A, member 2 DNAJA2 10294 ENSG00000069345 Dnaja2 (MGI:1931882)
chr16 47000000 52600000 16q12.1 602639 STHAG2, HYD2 Tooth agenesis, selective, 2 HYD2 8137 Tooth agenesis, selective, 2, 602639 (2)
chr16 47000000 79200000 16q12.1-q23.1 614668 STUT4 Stuttering, familial persistent, 4 100909385 max lod at D16S3043 Stuttering, familial persistent, 4, 614668 (2)
chr16 47081519 47144024 16q11 16q12.1 607974 NEOT2 Neuropilin and tolloid like 2 NETO2 81831 ENSG00000171208 Neto2 (MGI:1921763)
chr16 47154386 47461273 16q12.1 16q12.1 611803 ITFG1, TIP Integrin-alpha FG-gap repeat-containing protein 1 ITFG1 81533 ENSG00000129636 Itfg1 (MGI:106419)
chr16 47461130 47701522 16q12-q13 16q12.1 172490 PHKB Phosphorylase kinase, beta polypeptide PHKB 5257 ENSG00000102893 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3), Autosomal recessive Phkb (MGI:97578)
chr16 48082972 48146769 16q12.1 16q12.1 607041 ABCC12, MRP9 ATP-binding cassette, subfamily C, member 12 ABCC12 94160 ENSG00000140798 Abcc12 (MGI:2441679)
chr16 48164841 48249972 16q12.1 16q12.1 607040 ABCC11, MRP8, EWWD, WW ATP-binding cassette, subfamily C, member 11 ABCC11 85320 ENSG00000121270 [Axillary odor, variation in], 117800 (3), Autosomal dominant; [Colostrum secretion, variation in], 117800 (3), Autosomal dominant; [Earwax, wet/dry], 117800 (3), Autosomal dominant
chr16 48244166 48362998 16q12.1 16q12.1 617774 LONP2, PLON, PSLON LON peptidase 2, peroxisomal LONP2 83752 ENSG00000102910 Lonp2 (MGI:1914137)
chr16 48354580 48448434 16q12 16q12.1 602212 SIAH1 Seven in absentia, Drosophila, homolog of, 1 SIAH1 6477 ENSG00000196470 Siah1a (MGI:108064)
chr16 49277916 49281830 16q12.1 16q12.1 600432 CLN1 Precerebellin 1 CBLN1 869 ENSG00000102924 Cbln1 (MGI:88281)
chr16 49487530 49857918 16q12 16q12.1 604557 ZNF423, ZFP423, OAZ, KIAA0760, NPHP14, JBTS19 Zinc finger protein 423 ZNF423 23090 ENSG00000102935 Joubert syndrome 19, 614844 (3), Autosomal recessive, Autosomal dominant; Nephronophthisis 14, 614844 (3), Autosomal recessive, Autosomal dominant Zfp423 (MGI:1891217)
chr16 50025205 50037087 16q12.1 16q12.1 616869 CNEP1R1, NEP1R1, TMEM188 C-terminal domain nuclear envelope phosphatase 1 regulatory subunit 1 CNEP1R1 255919 ENSG00000205423 Cnep1r1 (MGI:1921981)
chr16 50065940 50107271 16q12.1 16q12.1 614951 HEATR3, SYO1 HEAT repeat-containing protein 3 HEATR3 55027 ENSG00000155393 Heatr3 (MGI:2444491)
chr16 50246137 50318134 16q12-q13 16q12.1 600385 ADCY7 Adenylate cyclase-7 ADCY7 113 ENSG00000121281 Adcy7 (MGI:102891)
chr16 50548329 50649248 16q12 16q12.1 607851 NKD1 Naked cuticle, Drosophila, homolog of, 1 NKD1 85407 ENSG00000140807 Nkd1 (MGI:2135954)
chr16 50666299 50681352 16q12.1 16q12.1 613281 SNX20, SLIC1 Sorting nexin 20 SNX20 124460 ENSG00000167208 Snx20 (MGI:1918857)
chr16 50693586 50733076 16q12 16q12.1 605956 NOD2, CARD15, IBD1, CD, YAOS, BLAUS Nucleotide-binding oligomerization domain protein 2 NOD2 64127 ENSG00000167207 Blau syndrome, 186580 (3), Autosomal dominant; {Inflammatory bowel disease 1, Crohn disease}, 266600 (3), Multifactorial; {Psoriatic arthritis, susceptibility to}, 607507 (2); {Yao syndrome}, 617321 (3), Multifactorial Nod2 (MGI:2429397)
chr16 50742025 50801934 16q12-q13 16q12.1 605018 CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS CYLD gene CYLD 1540 ENSG00000083799 behaves as tumor suppressor Brooke-Spiegler syndrome, 605041 (3), Autosomal dominant; Cylindromatosis, familial, 132700 (3), Autosomal dominant; Trichoepithelioma, multiple familial, 1, 601606 (3), Autosomal dominant Cyld (MGI:1921506)
chr16 51135974 51151271 16q12.1 16q12.1 602218 SALL1, HSAL1, TBS Sal-like 1 SALL1 6299 ENSG00000103449 Townes-Brocks branchiootorenal-like syndrome, 107480 (3), Autosomal dominant; Townes-Brocks syndrome 1, 107480 (3), Autosomal dominant Sall1 (MGI:1889585)
chr16 53054981 53327501 16q12.2 16q12.2 616936 CHD9, CREMM, PRIC320, KIAA0308 Chromodomain helicase DNA-binding protein 9 CHD9 80205 ENSG00000177200 Chd9 (MGI:1924001)
chr16 53434419 53491647 16q12.2 16q12.2 180203 RBL2 Retinoblastoma-like 2 RBL2 5934 ENSG00000103479 Rbl2 (MGI:105085)
chr16 53491039 53504410 16q12.2 16q12.2 608483 AKTIP, FTS, FT1 AKT_interacting protein AKTIP 64400 ENSG00000166971 Aktip (MGI:3693832)
chr16 53599238 53703937 16q12.2 16q12.2 610937 RPGRIP1L, KIAA1005, JBTS7, MKS5 RPGRIP1-like RPGRIP1L 23322 ENSG00000103494 COACH syndrome, 216360 (3), Autosomal recessive; Joubert syndrome 7, 611560 (3), Autosomal recessive; Meckel syndrome 5, 611561 (3), Autosomal recessive Rpgrip1l (MGI:1920563)
chr16 53703962 54114466 16q12.2 16q12.2 610966 FTO, GDFD, BMIQ14 Fat mass- and obesity-associated gene FTO 79068 ENSG00000140718 Growth retardation, developmental delay, facial dysmorphism, 612938 (3), Autosomal recessive; {Obesity, susceptibility to, BMIQ14}, 612460 (3), Autosomal recessive Fto (MGI:1347093)
chr16 54283299 54286771 16q12.2 16q12.2 612985 IRX3, IRXB1 Iroquois homeobox protein 3 IRX3 79191 ENSG00000177508 Irx3 (MGI:1197522)
chr16 54918862 54929188 16q12.2 16q12.2 615624 CRNDE Colorectal neoplasia differentially expressed gene, noncoding CRNDE 643911
chr16 54931198 54934484 16q11.2-q13 16q12.2 606195 IRX5, HMMS Iroquois homeo box protein 5 IRX5 10265 ENSG00000176842 Hamamy syndrome, 611174 (3), Autosomal recessive
chr16 55323759 55330759 16q11.2-q13 16q12.2 606196 IRX6, IRX7 Iroquois homeo box protein 6 IRX6 79190 ENSG00000159387 Irx6 (MGI:1927642)
chr16 55478829 55506690 16q13 16q12.2 120360 MMP2, CLG4A, MONA Matrix metalloproteinase 2 (gelatinase A, 72kD type IV collagenase) MMP2 4313 ENSG00000087245 near MT1,2 Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3), Autosomal recessive Mmp2 (MGI:97009)
chr16 55509000 55586669 16q12.2 16q12.2 612040 LPCAT1, AYTL1 Lysophosphatidylcholine acyltransferase 2 LPCAT2 54947 ENSG00000087253 Lpcat2 (MGI:3606214)
chr16 55655629 55706191 16q12.2 16q12.2 163970 SLC6A2, NAT1, NET1 Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2, cocaine- and antidepressant-sensitive SLC6A2 6530 ENSG00000103546 Orthostatic intolerance, 604715 (3) Slc6a2 (MGI:1270850)
chr16 55802850 55833162 16q13-q22.1 16q12.2 114835 CES1, SES1 Carboxylesterase 1 (monocyte/macrophage serine esterase 1) CES1 1066 ENSG00000198848 Carboxylesterase 1 deficiency (3) Ces1d (MGI:2148202)
chr16 56000000 66600000 16q13-q21 605746 ANMA Anisomastia 80871 Anisomastia, 605746 (2)
chr16 56000000 70800000 16q13-q22.1 611031 EKD2 Episodic kinesigenic dyskinesia 2 100124415 max lod at D16S503 Episodic kinesigenic dyskinesia 2, 611031 (2), Autosomal dominant
chr16 56191338 56357443 16q13 16q13 139311 GNAO1, EIEE17, NEDIM Guanine nucleotide-binding protein (G protein), alpha-activating activity GNAO1 2775 ENSG00000087258 close to MT1 in mouse Epileptic encephalopathy, early infantile, 17, 615473 (3), Autosomal dominant; Neurodevelopmental disorder with involuntary movements, 617493 (3), Autosomal dominant Gnao1 (MGI:95775)
chr16 56361451 56425537 16q21 16q13 603243 AMFR, GP78 Autocrine motility factor receptor AMFR 267 ENSG00000159461 Amfr (MGI:1345634)
chr16 56429135 56451348 16q12.2 16q13 604978 NUDT21, CPSF5, CFIM25 Nudix hydrolase 21 NUDT21 11051 ENSG00000167005 Nudt21 (MGI:1915469)
chr16 56451479 56477494 16q13 16q13 615857 OGFOD1 2-oxoglutarate- and iron-dependent oxygenase domain-containing protein 1 OGFOD1 55239 ENSG00000087263 Ogfod1 (MGI:2442978)
chr16 56470402 56520095 16q21 16q13 606151 BBS2, RP74 Bardet-Biedl syndrome 2 BBS2 583 ENSG00000125124 Bardet-Biedl syndrome 2, 615981 (3), Autosomal recessive; Retinitis pigmentosa 74, 616562 (3), Autosomal recessive Bbs2 (MGI:2135267)
chr16 56565048 56568956 Chr.16 16q13 606206 MT4, MTIV Metallothionein 4 MT4 84560 ENSG00000102891
chr16 56589336 56591087 16q13 16q13 139255 MT3, GIFB Metallothionein 3 (growth inhibitory factor (neurotrophic)) MT3 4504 ENSG00000087250
chr16 56608532 56609496 16q13 16q13 156360 MT2A, MT2 Metallothionein 2A MT2A 4502 ENSG00000125148 pseudogene MT2P1 on 4cen-q21
chr16 56617460 56618817 16q13 16q13 156358 MT1L Metallothionein 1L MT1L 4500
chr16 56625672 56627111 16q13 16q13 156351 MT1E Metallothionein 1E (functional) MT1E 4493 ENSG00000169715
chr16 56632621 56633985 16q13 16q13 156357 MT1K Metallothionein 1K MT1M 4499
chr16 56635738 56637085 16q13 16q13 156356 MT1J Metallothionein 1J MT1JP 4498
chr16 56638665 56640086 16q13 16q13 156350 MT1A Metallothionein 1A (functional) MT1A 4489 ENSG00000205362 proximal to FRA16B
chr16 56651898 56653203 16q13 16q13 156349 MT1B Metallothionein 1B (functional) MT1B 4490 ENSG00000169688
chr16 56657942 56659302 16q13 16q13 156352 MT1F Metallothionein 1F (functional) MT1F 4494 ENSG00000198417
chr16 56666734 56668064 16q13 16q13 156353 MT1G Metallothionein 1G MT1G 4495 ENSG00000125144
chr16 56669813 56671128 16q13 16q13 156354 MT1H Metallothionein 1H MT1H 4496 ENSG00000205358
chr16 56676115 56677876 16q13 16q13 156355 MT1I Metallothionein 1I MT1IP 644314
chr16 56682469 56684195 16q13 16q13 156359 MT1X Metallothionein 1X MT1X 4501 ENSG00000187193
chr16 56730104 56844949 16q13 16q13 614351 NUP93, NIC96, KIAA0095, NPHS12 Nucleoporin, 93kD NUP93 9688 ENSG00000102900 Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive Nup93 (MGI:1919055)
chr16 56858517 56858600 16q13 16q13 613395 MIR138-2, MIRN138-2 Micro RNA 138-2 MIR138-2 406930
chr16 56865206 56915849 16q13 16q13 600968 SLC12A3, NCCT, TSC Solute carrier family 12 (sodium/potassium/chloride transporters), member 3 SLC12A3 6559 ENSG00000070915 Gitelman syndrome, 263800 (3), Autosomal recessive Slc12a3 (MGI:108114)
chr16 56932089 56943880 16q12.2-q13 16q13 608070 HERPUD1, MIF1, HERP, KIAA0025 Homocysteine- and endoplasmic reticulum stress-inducible protein, ubiquitin-like domain-containing, 1 HERPUD1 9709 ENSG00000051108 Herpud1 (MGI:1927406)
chr16 56961922 56983843 16q21 16q13 118470 CETP, HDLCQ10 Cholesteryl ester transfer protein, plasma CETP 1071 ENSG00000087237 [High density lipoprotein cholesterol level QTL 10], 143470 (3), Autosomal dominant; Hyperalphalipoproteinemia, 143470 (3), Autosomal dominant
chr16 56989484 57083523 16q13 16q13 613537 NLRC5 NLR family, caspase recruitment domain-containing 5 NLRC5 84166 ENSG00000140853 Nlrc5 (MGI:3612191)
chr16 57092542 57147965 16q13 16q13 604206 CPNE2, CPN2 Copine II CPNE2 221184 ENSG00000140848 Cpne2 (MGI:2387578)
chr16 57152465 57186340 16q13 16q13 617766 FAM192A, NIP30, C16orf94 Family with sequence similarity 192, member A FAM192A 80011 ENSG00000172775 Fam192a (MGI:1919637)
chr16 57186136 57240474 16q13 16q13 616585 RSPRY1, KIAA1972, SEMDFA RING finger- and SPRY domain-containing protein 11 RSPRY1 89970 ENSG00000159579 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616723 (3), Autosomal recessive Rspry1 (MGI:1914860)
chr16 57245125 57253632 16q13 16q13 615407 ARL2BP, BART ADP ribosylation factor-like 2-binding protein ARL2BP 23568 ENSG00000102931 Retinitis pigmentosa with or without situs inversus, 615434 (3), Autosomal recessive Arl2bp (MGI:1349429)
chr16 57256096 57284671 16q13 16q13 600340 PLLP, PMLP, TM4SF11 Plasma membrane proteolipid (plasmolipin) PLLP 51090 ENSG00000102934 Pllp (MGI:1915051)
chr16 57300000 74100000 16q21-q22 616648 OPA8 Optic atrophy 8 OPA8 106783499 max lod at D16S752 Optic atrophy 8, 616648 (2), Autosomal dominant
chr16 57358782 57366189 16q13 16q21 602957 CCL22, SCYA22 Chemokine, C-C motif, ligand 22 CCL22 6367 ENSG00000102962 Ccl22 (MGI:1306779)
chr16 57372457 57385047 16q 16q21 601880 CX3CL1, SCYD1, NTT, NTN Chemokine, C-X3-C motif, ligand 1 (fractalkine; neurotactin) CX3CL1 6376 ENSG00000006210 Cx3cl1 (MGI:1097153)
chr16 57396075 57416062 16q13 16q21 601520 CCL17, SCYA17, TARC Chemokine, C-C motif, ligand 17 CCL17 6361 ENSG00000102970 Ccl17 (MGI:1329039)
chr16 57428168 57447527 16q21 16q21 608943 CIAPIN1 Cytokine-induced apoptosis inhibitor 1 (anamorsin) CIAPIN1 57019 ENSG00000005194 Ciapin1 (MGI:1922083)
chr16 57447424 57461274 16q13 16q21 612837 COQ9, C16orf49, COQ10D5 Coq9, S. cerevisiae, homolog of COQ9 57017 ENSG00000088682 Coenzyme Q10 deficiency, primary, 5, 614654 (3), Autosomal recessive Coq9 (MGI:1915164)
chr16 57462638 57472008 16q13-q21 16q21 180663 POLR2C Polymerase (RNA) II (DNA directed) polypeptide C, 33kD POLR2C 5432 ENSG00000102978 Polr2c (MGI:109299)
chr16 57471921 57487138 16q13 16q21 608333 DOK4 Docking protein 4 DOK4 55715 ENSG00000125170 Dok4 (MGI:2148865)
chr16 57529338 57578181 16q21 16q21 616965 ADGRG5, GPR114 Adhesion G protein-coupled receptor G5 ADGRG5 221188 ENSG00000159618 Adgrg5 (MGI:2685955)
chr16 57619534 57665038 16q13 16q21 604110 ADGRG1, GPR56, TM7XN1, BFPP, BPPR Adhesion G protein-coupled receptor G1 ADGRG1 9289 ENSG00000205336 Polymicrogyria, bilateral frontoparietal, 606854 (3), Autosomal recessive; Polymicrogyria, bilateral perisylvian, 615752 (3) Adgrg1 (MGI:1340051)
chr16 57735601 57757249 16q21 16q21 602703 KATNB1, LIS6 Katanin, p80 subunit, B1 KATNB1 10300 ENSG00000140854 Lissencephaly 6, with microcephaly, 616212 (3), Autosomal recessive Katnb1 (MGI:1921437)
chr16 57758216 57863052 16q13-q21 16q21 604535 KIFC3 Kinesin family member C3 KIFC3 3801 ENSG00000140859 Kifc3 (MGI:109202)
chr16 57882339 57971115 16q13 16q21 600724 CNGB1, CNCG3L, CNCG2, RP45 Cyclic nucleotide gated channel, beta 1 CNGB1 1258 ENSG00000070729 Retinitis pigmentosa 45, 613767 (3), Autosomal recessive
chr16 57976434 57988115 16q13 16q21 610264 TEPP Testis-prostate-placenta-expressed protein TEPP 374739 ENSG00000159648 Tepp (MGI:1920657)
chr16 57999598 58021622 16q13 16q21 613276 USB1, C16orf57, PN U6 small nuclear RNA biogenesis phosphodiesterase 1 USB1 79650 ENSG00000103005 Poikiloderma with neutropenia, 604173 (3), Autosomal recessive Usb1 (MGI:2142454)
chr16 58025565 58046900 16q13-q21 16q21 602261 MMP15 Matrix metalloproteinase 15 MMP15 4324 ENSG00000102996 Mmp15 (MGI:109320)
chr16 58113587 58129424 16q21 16q21 617906 CFAP20, BUG22, C16orf80, FSAP23 Cilia- and flagella-associated protein 20 CFAP20 29105 ENSG00000070761 Cfap20 (MGI:107428)
chr16 58157902 58197919 16p13.3-p13.2 16q21 115442 CSNK2A2 Casein kinase-2, alpha-prime polypeptide CSNK2A2 1459 ENSG00000070770 Csnk2a2 (MGI:88547)
chr16 58196861 58283835 16q21 16q21 616070 CCDC113 Coiled-coil domain-containing protein 113 CCDC113 29070 ENSG00000103021 Ccdc113 (MGI:3606076)
chr16 58392393 58406143 16q21 16q21 610610 GINS3, PSF3 GINS complex subunit 3 GINS3 64785 ENSG00000181938 Gins3 (MGI:1926083)
chr16 58463644 58515402 16q21-q22.3 16q21 614463 NDRG4, SMAP8, KIAA1180 NMYC downstream-regulated gene 4 NDRG4 65009 ENSG00000103034 Ndrg4 (MGI:2384590)
chr16 58515478 58521989 16q21 16q21 616424 SETD6 SET domain-containing protein 6 SETD6 79918 ENSG00000103037 Setd6 (MGI:1913333)
chr16 58519945 58629885 16q21 16q21 604917 CNOT1, NOT1 CCR4-NOT transcription complex, subunit 1 CNOT1 23019 ENSG00000125107 Cnot1 (MGI:2442402)
chr16 58665108 58684776 16q21 16q21 614236 SLC38A7, SNAT7 Solute carrier family 38 (amino acid transporter), member 7 SLC38A7 55238 ENSG00000103042 Slc38a7 (MGI:2679005)
chr16 58707130 58734356 16q21 16q21 138150 GOT2 Glutamic-oxaloacetic transaminase-2, mitochondrial (EC 2.6.1.1) GOT2 2806 ENSG00000125166 ?pseudogenes on 12 and 1 Got2 (MGI:95792)
chr16 61640397 62036834 16q21-q22.1 16q21 603008 CDH8 Cadherin-8 CDH8 1006 ENSG00000150394 Cdh8 (MGI:107434)
chr16 64943752 65126111 16q21-q22.1 16q21 600023 CDH11, CAD11 Cadherin-11 (OB-cadherin, osteoblast) CDH11 1009 ENSG00000140937 Cdh11 (MGI:99217)
chr16 66366606 66404785 16q22.1 16q21 601120 CDH5 Cadherin-5 CDH5 1003 ENSG00000179776 Cdh5 (MGI:105057)
chr16 66427296 66495287 16q21 16q21 612051 BEAN, SCA31 Brain-expressed, associated with NEDD4 BEAN1 146227 ENSG00000166546 Spinocerebellar ataxia 31, 117210 (3), Autosomal dominant Bean1 (MGI:1929597)
chr16 66508002 66550411 16q22 16q21 188250 TK2, MTDPS2, PEOB3 Thymidine kinase, mitochondrial TK2 7084 ENSG00000166548 mutation identified in 1 PEOB3 family Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3), Autosomal recessive; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3), Autosomal recessive Tk2 (MGI:1913266)
chr16 66552562 66566286 16q23 16q21 616074 CKLF, HSPC224 Chemokine-like factor CKLF 51192 ENSG00000217555 Cklf (MGI:1922708)
chr16 66566390 66579134 16q22 16q21 607884 CMTM1, CKLFSF1 CKLF-like marvel transmembrane domain-containing 1 CMTM1 113540 ENSG00000089505
chr16 66579447 66588274 16q22 16q21 607885 CMTM2, CKLFSF2 CKLF-like marvel transmembrane domain-containing 2 CMTM2 146225 ENSG00000140932 Cmtm2b (MGI:2447311)
chr16 66598177 66696706 16q22 16q21-q22 607887 CMTM4, CKLFSF4 CKLF-like marvel transmembrane domain-containing 4 CMTM4 146223 ENSG00000183723 Cmtm4 (MGI:2142888)
chr16 66600000 74100000 16q22 606179 ANBC Aneurysmal bone cysts 114293 t(16:17); ?defect at 17p13 Aneurysmal bone cysts, 606179 (2)
chr16 66600000 74100000 16q22 613055 ATFB8 Atrial fibrillation, familial, 8 100306979 associated with rs7193343 Atrial fibrillation, familial, 8, 613055 (2)
chr16 66600000 74100000 16q22 614541 C16DELq22, DEL16q22 Chromosome 16q22 deletion syndrome Chromosome 16q22 deletion syndrome, 614541 (4), Isolated cases
chr16 66600000 70800000 16q22.1 612590 CRCS9 Colorectal cancer, susceptibility to, 9 100329169 associated with rs9929218 {Colorectal cancer, susceptibility to, 9}, 612590 (2)
chr16 66600000 74100000 16q22 604901 NAIC North American Indian childhood cirrhosis North American Indian childhood cirrhosis, 604901 (2)
chr16 66600000 79200000 16q22.1-q23.1 611571 OTSC4 Otosclerosis 4 OTSC4 286751 between D16S3107 and D16S3097 {Otosclerosis 4}, 611571 (2), Autosomal dominant
chr16 66600000 70800000 16q22.1 600223 SCA4 Spinocerebellar ataxia 4 Spinocerebellar ataxia 4, 600223 (2), Autosomal dominant
chr16 66603995 66613891 16q22 16q22.1 607886 CMTM3, CKLFSF3 CKLF-like marvel transmembrane domain-containing 3 CMTM3 123920 ENSG00000140931 Cmtm3 (MGI:2447162)
chr16 66754409 66801619 16q22.1 16q22.1 617332 TERB1, CCDC79 Telomere repeat-binding bouquet formation protein 1 TERB1 283847 ENSG00000249961 Terb1 (MGI:2443187)
chr16 66802877 66830976 16q22 16q22.1 603385 NAE1, APPBP1 NEDD8 activating enzyme E1 subunit 1 NAE1 8883 ENSG00000159593 Nae1 (MGI:2384561)
chr16 66844378 66854148 16q21-q23 16q22.1 114770 CA7 Carbonic anhydrase VII CA7 766 ENSG00000168748 Car7 (MGI:103100)
chr16 66880360 66891100 16q22.1 16q22.1 615499 PDP2, KIAA1348 Pyruvate dehydrogenase phosphatase catalytic subunit 2 PDP2 57546 ENSG00000172840 Pdp2 (MGI:1918878)
chr16 66908121 66918983 16q22.1 16q22.1 603118 CDH16 Cadherin-16 CDH16 1014 ENSG00000166589 Cdh16 (MGI:106671)
chr16 66921678 66925535 16q22 16q22.1 179503 RRAD Ras-related associated with diabetes RRAD 6236 ENSG00000166592 Rrad (MGI:1930943)
chr16 66932054 66934422 16q22.1 16q22.1 614778 FAM96B, MIP18 Family with sequence similarity 96, member B FAM96B 51647 ENSG00000166595 Fam96b (MGI:1915773)
chr16 66934443 66945095 16q22.1 16q22.1 605278 CES2 Carboxylesterase 2 CES2 8824 ENSG00000172831 Ces2h (MGI:3648740)
chr16 66961228 66975151 16q21 16q22.1 605279 CES3, ES31 Carboxylesterase 3 CES3 23491 ENSG00000172828 Ces3a,Ces3b (MGI:102773,MGI:3644960)
chr16 67029146 67101057 16q22 16q22.1 121360 CBFB, PEBP2B Core-binding factor, beta subunit CBFB 865 ENSG00000067955 inv(16)(p13;q22); fuses to MYH11 Myeloid leukemia, acute, M4/M4Eo subtype, somatic, 601626 (1) Cbfb (MGI:99851)
chr16 67154184 67159908 16q22 16q22.1 603500 TRADD TNRF1-associated death domain protein TRADD 8717 ENSG00000102871 Tradd (MGI:109200)
chr16 67159987 67164173 16q22.1 16q22.1 609077 FBXL8, FBL8 F-box and leucine-rich repeat protein 8 FBXL8 55336 ENSG00000135722 Fbxl8 (MGI:1354697)
chr16 67163384 67169944 16q21-q22.1 16q22.1 602438 HSF4, CTM, CTRCT5 Heat-shock transcription factor 4 HSF4 3299 ENSG00000102878 Cataract 5, multiple types, 116800 (3), Autosomal dominant Hsf4 (MGI:1347058)
chr16 67170496 67175736 16q21-q23 16q22.1 605235 NOL3, NOP, MYC, ARC, FCM Nucleolar protein 3 NOL3 8996 ENSG00000140939 Myoclonus, familial cortical, 614937 (3), Autosomal dominant Nol3 (MGI:1925938)
chr16 67184378 67190203 16q22.1 16q22.1 614117 EXOC3L1, EXOC3L Exocyst complex component 3-like 1 EXOC3L1 283849 ENSG00000179044 Exoc3l (MGI:3041195)
chr16 67192159 67198917 16q22.1 16q22.1 600659 E2F4 E2F transcription factor 4, p107/p130-binding E2F4 1874 ENSG00000205250 E2f4 (MGI:103012)
chr16 67202320 67202394 16q22.1 16q22.1 613701 MIR328, MIRN328 Micro RNA 328 MIR328 442901
chr16 67199124 67204028 Chr.16 16q22.1 606422 ELMO3 Engulfment and cell motility gene 3 ELMO3 79767 ENSG00000102890 Elmo3 (MGI:2679007)
chr16 67229388 67247521 16q22 16q22.1 606881 FHOD1, FHOS Formin homology 2 domain-containing 1 FHOD1 29109 ENSG00000135723
chr16 67247548 67272203 16q22.1 16q22.1 600477 SLC9A5, NHE5 Solute carrier family 9 (sodium/hydrogen exchanger), member 5 SLC9A5 6553 ENSG00000135740 Slc9a5 (MGI:2685542)
chr16 67277819 67289499 16q22.1 16q22.1 609526 PLEKHG4 Pleckstrin homology domain containing, family G (puratrophin 1) PLEKHG4 25894 ENSG00000196155 Plekhg4 (MGI:2142544)
chr16 67389806 67393534 16q22.1 16q22.1 616957 TPPP3, p20 Tubulin polymerization-promoting protein family, member 3 TPPP3 51673 ENSG00000159713 Tppp3 (MGI:1915221)
chr16 67431132 67437552 16q22 16q22.1 614232 HSD11B2, HSD11K, AME Hydroxysteroid (11-beta) dehydrogenase 2 HSD11B2 3291 ENSG00000176387 Apparent mineralocorticoid excess, 218030 (3), Autosomal recessive Hsd11b2 (MGI:104720)
chr16 67438013 67481185 16q22 16q22.1 607028 ATP6V0D1 ATPase, H=transporting lysosomal, 38kD, V0 subunit D, isoform 1 ATP6V0D1 9114 ENSG00000159720 Atp6v0d1 (MGI:1201778)
chr16 67482570 67483812 16q22 16q22.1 602311 AGRP, ART, AGRT Agouti-related transcript, mouse, homolog of AGRP 181 ENSG00000159723 {Leanness, inherited} (3); {Obesity, late-onset}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Agrp (MGI:892013)
chr16 67562406 67639184 16q22.1 16q22.1 604167 CTCF, MRD21 CCCTC-binding factor CTCF 10664 ENSG00000102974 Mental retardation, autosomal dominant 21, 615502 (3), Autosomal dominant Ctcf (MGI:109447)
chr16 67644939 67657568 16q22.1 16q22.1 610859 CARMIL2, RLTPR Capping protein regulator and myosin 1 linker 2 CARMIL2 146206 ENSG00000159753 Carmil2 (MGI:2685431)
chr16 67657511 67660831 16q22.1 16q22.1 609377 ACD, PTOP, PIP1, TINT1 Acd, mouse, homolog of ACD 65057 ENSG00000102977 mutation has been identified in 1 DKCA7 and 1 DKCB7 family ?Dyskeratosis congenita, autosomal dominant 6, 616553 (3), Autosomal recessive, Autosomal dominant; ?Dyskeratosis congenita, autosomal recessive 7, 616553 (3), Autosomal recessive, Autosomal dominant Acd (MGI:87873)
chr16 67723065 67806651 16q22.1 16q22.1 614031 RANBP10, KIAA1464 Ran-binding protein 10 RANBP10 57610 ENSG00000141084 Ranbp10 (MGI:1921584)
chr16 67806572 67828067 16q22.1 16q22.1 607720 TSNAXIP1, TXI1 Translin-associated factor X-interacting protein 1 TSNAXIP1 55815 ENSG00000102904 Tsnaxip1 (MGI:1919486)
chr16 67828156 67847457 16q22.1 16q22.1 611510 CENPT Centromere protein T CENPT 80152 ENSG00000102901 Cenpt (MGI:2443939)
chr16 67842309 67844194 16q22.1 16q22.1 609119 THAP11, RONIN THAP domain-containing protein 11 THAP11 57215 ENSG00000168286 Thap11 (MGI:1930964)
chr16 67873022 67884513 16q22.1 16q22.1 606030 EDC4, RCD8, GE1, HEDL5 Enhancer of mRNA decapping 4 EDC4 23644 ENSG00000038358 Edc4 (MGI:2446249)
chr16 67893271 67929677 16q22.1 16q22.1 177015 PSKH1 Putative serine kinase H1 PSKH1 5681 ENSG00000159792 Pskh1 (MGI:3528383)
chr16 67929569 67931874 16q22.1 16q22.1 118888 CTRL Chymotrypsin-like protease CTRL 1506 ENSG00000141086 Ctrl (MGI:88558)
chr16 67934503 67936876 16q22.1 16q22.1 176847 MECL1, LMP10, PSMB10 Proteosome subunit MECL1 PSMB10 5699 ENSG00000205220 3.1kb from LCAT Psmb10 (MGI:1096380)
chr16 67939883 67944111 16q22.1 16q22.1 606967 LCAT Lecithin-cholesterol acyltransferase LCAT 3931 ENSG00000213398 very close to HP Fish-eye disease, 136120 (3), Autosomal recessive; Norum disease, 245900 (3), Autosomal recessive Lcat (MGI:96755)
chr16 67943473 67968693 16q22.1 16q22.1 604119 SLC12A4, KCC1 Solute carrier family 12 (potassium/chloride transporters), member 4 SLC12A4 6560 ENSG00000124067 Slc12a4 (MGI:1309465)
chr16 67975662 67980548 16q22.1 16q22.1 609926 DPEP3, MBD3 Dipeptidase 3 DPEP3 64180 ENSG00000141096 Dpep3 (MGI:1919104)
chr16 67987389 68000643 16q22.1 16q22.1 609925 DPEP2, MBD2 Dipeptidase 2 DPEP2 64174 ENSG00000167261 Dpep2 (MGI:2442042)
chr16 68021273 68023866 16q22.1 16q22.1 607618 DDX28, MDDX28 DEAD/H box 28 DDX28 55794 ENSG00000182810 Ddx28 (MGI:1919236)
chr16 68022943 68079322 16q22.1 16q22.1 609707 DUS2L, DUS2 Dihydrouridine synthase 2-like DUS2 54920 ENSG00000167264 Dus2 (MGI:1913619)
chr16 68225967 68236232 16q22.1 16q22.1 612960 ESRP2, RBM35B Epithelial splicing regulatory protein 2 ESRP2 80004 ENSG00000103067 Esrp2 (MGI:1924661)
chr16 68085365 68229258 Chr.16 16q22.1 602698 NFATC3 Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 3 NFATC3 4775 ENSG00000072736 Nfatc3 (MGI:103296)
chr16 68245343 68261061 16q22.1 16q22.1 609362 LYPLA3, LLPL, ACS, LPLA2 Lysophospholipase 3 PLA2G15 23659 ENSG00000103066 Pla2g15 (MGI:2178076)
chr16 68264509 68301822 Chr.16 16q22.1 605641 SLC7A6 Solute carrier family 7 (y+L-type amino acid transporter), member 6 SLC7A6 9057 ENSG00000103064 Slc7a6 (MGI:2142598)
chr16 68310950 68360875 16q22.1 16q22.1 610087 PRMT7, KIAA1933, SBIDDS Protein arginine N-methyltransferase 7 PRMT7 54496 ENSG00000132600 Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3), Autosomal recessive Prmt7 (MGI:2384879)
chr16 68530248 68576071 16q22.1 16q22.1 609451 ZFP90, NK10, KIAA1954 Zinc finger protein 90, mouse, homolog of ZFP90 146198 ENSG00000184939 Zfp90 (MGI:104786)
chr16 68644835 68727572 16q22.1 16q22.1 114021 CDH3, CDHP, PCAD, HJMD Cadherin-3 (P-cadherin) CDH3 1001 ENSG00000062038 in mouse tightly linked to ECAD Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3), Autosomal recessive; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3), Autosomal recessive Cdh3 (MGI:88356)
chr16 68737289 68835541 16q22.1 16q22.1 192090 CDH1, UVO, LCAM, ECAD, BCDS1 Cadherin-1 (E-cadherin; uvomorulin) CDH1 999 ENSG00000039068 near LCAT Blepharocheilodontic syndrome 1, 119580 (3), Autosomal dominant; {Breast cancer, lobular}, 114480 (3), Autosomal dominant; Endometrial carcinoma, somatic, 608089 (3); Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 (3), Autosomal dominant; Ovarian carcinoma, somatic, 167000 (3); {Prostate cancer, susceptibility to}, 176807 (3), Autosomal dominant Cdh1 (MGI:88354)
chr16 69105563 69118718 16q22.1 16q22.1 602428 HAS3 Hyaluronan synthase 3 HAS3 3038 ENSG00000103044 Has3 (MGI:109599)
chr16 69118008 69132589 16q22.1 16q22.1 613202 CHTF8, CTF8 Chromosome transmission fidelity factor 8, S. cerevisiae, homolog of CHTF8 54921 ENSG00000168802 Chtf8 (MGI:2443370)
chr16 69132595 69169033 16q22 16q22.1 607456 UTP4, CIRH1A, TEX292, KIAA1988 Utp4, S. cerevisiae, homolog of UTP4 84916 ENSG00000141076 Utp4 (MGI:1096573)
chr16 69187146 69309051 16q22-q23 16q22.1 600027 SNTB2, SNT2B2, SNTL Syntrophin, beta-2 SNTB2 6645 ENSG00000168807 Sntb2 (MGI:101771)
chr16 69311383 69325042 16q22 16q22.1 609982 VPS4A, VPS4 Vacuolar protein sorting 4, yeast, homolog of, A VPS4A 27183 ENSG00000132612 Vps4a (MGI:1890520)
chr16 69328620 69339622 16q22.1 16q22.1 606979 COG8, DOR1, CDG2H Component of oligomeric golgi complex 8 COG8 84342 ENSG00000272617 Congenital disorder of glycosylation, type IIh, 611182 (3) Cog8 (MGI:2142885)
chr16 69355560 69386003 16q22.1 16q22.1 602027 TERF2, TRF2 Telomeric repeat-binding factor-2 TERF2 7014 ENSG00000132604 Terf2 (MGI:1195972)
chr16 69424594 69466263 16q22.1 16q22.1 611964 CYB5B, CYPB5M Cytochrome b5, type B (outer mitochondrial membrane) CYB5B 80777 ENSG00000103018 Cyb5b (MGI:1913677)
chr16 69565951 69704665 16q22.1 16q22.1 604708 NFAT5, KIAA0827, NFATL1, TONEBP Nuclear factor of activated T cells 5 NFAT5 10725 ENSG00000102908 Nfat5 (MGI:1859333)
chr16 69709400 69726667 16q22.1 16q22.1 125860 NQO1, DIA4, NMOR1 NAD(P)H dehydrogenase, quinone 1 (diaphorase-4) NQO1 1728 ENSG00000181019 {Benzene toxicity, susceptibility to} (3); {Breast cancer, poor survival after chemotherapy for} (3); {Leukemia, post-chemotherapy, susceptibility to} (3) Nqo1 (MGI:103187)
chr16 69762283 69941740 16q21 16q22.1 602308 WWP2 WW domain-containing protein 2 WWP2 11060 ENSG00000198373 Wwp2 (MGI:1914144)
chr16 69933080 69933179 16q22.1 16q22.1 611894 MIR140, MIRN140 Micro RNA 140 MIR140 406932
chr16 69950231 69968477 16q22.1 16q22.1 616571 CLEC18A C-type lecting domain family 18, member A CLEC18A 348174 ENSG00000157322
chr16 70113625 70163630 16q22.1 16q22.1 617835 PDPR, KIAA1990 Pyruvate dehydrogenase phosphatase regulatory subunit PDPR 55066 ENSG00000090857 Pdpr (MGI:2442188)
chr16 70173321 70187146 16q22.1 16q22.1 616573 CLEC18C C-type lectin domain family 18, member C CLEC18C 283971 ENSG00000157335
chr16 70250230 70251929 16q22.1 16q22.1 606490 EXOSC6, MTR3 Exosome component 6 EXOSC6 118460 ENSG00000223496 Exosc6 (MGI:1919794)
chr16 70252294 70289508 16q22 16q22.1 601065 AARS, CMT2N, EIEE29 Alanyl-tRNA synthetase AARS 16 ENSG00000090861 Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 29, 616339 (3), Autosomal recessive Aars (MGI:2384560)
chr16 70289766 70335212 Chr.16 16q22.1 605812 DDX19, DBP5 DEAD/H box 19 DDX19B 11269 ENSG00000157349 Ddx19b (MGI:2148251)
chr16 70480568 70523553 16q22.1 16q22.1 606976 COG4, COD1, CDG2J Component of oligomeric golgi complex 4 COG4 25839 ENSG00000103051 Congenital disorder of glycosylation, type IIj, 613489 (3), Autosomal recessive Cog4 (MGI:2142808)
chr16 70523787 70577667 16q22.1 16q22.1 605592 SF3B3, SF3B130, SAP130 Splicing factor 3B, subunit 3 SF3B3 23450 ENSG00000189091 Sf3b3 (MGI:1289341)
chr16 70579894 70660681 16q22.1 16q22.1 612081 IL34, C16orf77 Interleukin 34 IL34 146433 ENSG00000157368 Il34 (MGI:1923777)
chr16 70661203 70686050 16q22.1 16q22.1 616951 MTSS1L, ABBA1 Metastasis suppressor 1-like protein MTSS1L 92154 ENSG00000132613 Mtss1l (MGI:3039591)
chr16 70687438 70801175 16q22.1 16q22.1-q22.2 604632 VAC14, TAX1BP2, TRX, SNDC Vac14, S. cerevisiae, homolog of VAC14 55697 ENSG00000103043 Striatonigral degeneration, childhood-onset, 617054 (3), Autosomal recessive Vac14 (MGI:2157980)
chr16 70802083 71230721 16q22.2 16q22.2 610812 HYDIN, HYDIN1, CILD5 Hydin, mouse, homolog of HYDIN 54768 ENSG00000157423 duplicated copy on 1q21.1 Ciliary dyskinesia, primary, 5, 608647 (3), Autosomal recessive Hydin (MGI:2389007)
chr16 71282299 71290177 16q22.2 16q22.2 616190 CMTR2, MTR2, FTSJD1 CAP methyltransferase 2 CMTR2 55783 ENSG00000180917 Cmtr2 (MGI:2384580)
chr16 71358712 71390437 16q22.1 16q22.2 114051 CALB2 Calbindin 2, 29kD (calretinin) CALB2 794 ENSG00000172137 Calb2 (MGI:101914)
chr16 71447596 71462251 16q22 16q22.2 194527 ZNF23, KOX16 Zinc finger protein-32 (KOX16) ZNF23 7571 ENSG00000167377 Zfp612 (MGI:2443465)
chr16 71474072 71489350 16q22 16q22.2 194525 ZNF19, KOX12 Zinc finger protein-19 (KOX12) ZNF19 7567 ENSG00000157429 ?16q23, 19q13
chr16 71566850 71577094 16q22.1-q22.3 16q22.2 613018 TAT Tyrosine aminotransferase, soluble TAT 6898 ENSG00000198650 Tyrosinemia, type II, 276600 (3), Autosomal recessive Tat (MGI:98487)
chr16 71626152 71641964 16q22.2 16q22.2 614094 MARVELD3 Marvel domain-containing protein 3 MARVELD3 91862 ENSG00000140832 Marveld3 (MGI:1920858)
chr16 71644923 71724700 16q22.3 16q22.2 611066 PHLPPL, PHLPP2 PH domain and leucine-rich repeat protein phosphatase-like PHLPP2 23035 ENSG00000040199 Phlpp2 (MGI:2444928)
chr16 71728999 71809072 16q23 16q22.2 603533 AP1G1, ADTG, CLAPG1 Adaptor-related protein complex 1, gamma 1 subunit (adaptin, gamma) AP1G1 164 ENSG00000166747 Ap1g1 (MGI:101919)
chr16 71845990 71857332 16q22.2 16q22.2 614301 ATXN1L, BOAT1 Ataxin 1-like (brother of ataxin 1) ATXN1L 342371 ENSG00000224470 Atxn1l (MGI:3694797)
chr16 71894407 71930638 16q22.2 16q22.2 616434 IST1, KIAA0174 Increased sodium tolerance 1, yeast, homolog of IST1 9798 ENSG00000182149 Ist1 (MGI:1919205)
chr16 71929537 72000400 16q22 16q22.2 607895 PKD1L3 Polycystin 1-like 3 PKD1L3 342372 ENSG00000277481 Pkd1l3 (MGI:2664670)
chr16 72008743 72025416 16q22 16q22.2 126064 DHODH, URA1, POADS Dihydroorotate dehydrogenase DHODH 1723 ENSG00000102967 Miller syndrome, 263750 (3), Autosomal recessive Dhodh (MGI:1928378)
chr16 72044260 72094315 16q22.2 16q22.2 617722 TXNL4B, DLP, DIM2 Thioredoxin-like 4B TXNL4B 54957 ENSG00000140830 Txnl4b (MGI:2443724)
chr16 72054591 72061055 16q22.1 16q22.2 140100 HP Haptoglobin HP 3240 ENSG00000257017 just distal to fra16q22.1 [Anhaptoglobinemia], 614081 (3); [Hypohaptoglobinemia], 614081 (3) Hp (MGI:96211)
chr16 72063225 72077245 16q22.1 16q22.2 140210 HPR Haptoglobin-related locus HPR 3250 ENSG00000261701 2.2kb 3' to HP; multiple tandem genes in blacks
chr16 72093664 72112911 16q21-q22 16q22.2 605584 DHX38, DDX38, PRP16 DEAH (Asp-Glu-Ala-His) box polypeptide 38 (PRP6, S. cerevisiae, homolog of) DHX38 9785 ENSG00000140829 Dhx38 (MGI:1927617)
chr16 72782884 73058634 16q22.3-q23.1 16q22.2-q22.3 104155 ZFHX3, ATBF1 Zinc finger homeobox 3 ZFHX3 463 ENSG00000140836 {Prostate cancer, susceptibility to, somatic}, 176807 (3) Zfhx3 (MGI:99948)
chr16 72800000 79200000 16q22.3-q23.1 608932 KTCN2 Keratoconus 2 450092 Keratoconus 2, 608932 (2)
chr16 73092348 73093773 16q22.3 16q22.3 615613 HCCAT5, HTA Hepatocellular carcinoma-associated transcript 5 HCCAT5 283902
chr16 74100000 84100000 16q23 612727 BMND13 Bone mineral density quantitative trait locus 13 100294717 associated with rs16945612 [Bone mineral density QTL 13], 612727 (2)
chr16 74100000 84100000 16q23 608462 HSCR8 Hirschsprung disease, susceptibility to, 8 404719 {Hirschsprung disease, susceptibility to, 8}, 608462 (2)
chr16 74296774 74306287 16q23-q24 16q23.1 157970 PSMD7, MOV34 Proteasome 25S subunit, non-ATPase, 7 (Moloney leukemia virus-34 proviral integration homolog) PSMD7 5713 ENSG00000103035 Psmd7 (MGI:1351511)
chr16 74408630 74422247 16q22.3 16q23.1 616572 CLEC18B C-type lectin domain family 18, member B CLEC18B 497190 ENSG00000140839 Clec18a (MGI:2672935)
chr16 74447426 74607143 16q22-q23 16q23.1 600753 GLG1 Golgi apparatus protein 1 GLG1 2734 ENSG00000090863 Glg1 (MGI:104967)
chr16 74621395 74666891 16q23.1 16q23.1 614151 RFWD3, FANCW RING finger and WD repeat domains-containing protein 3 RFWD3 55159 ENSG00000168411 mutation identified in 1 FANCW patient ?Fanconi anemia, complementation group W, 617784 (3), Autosomal recessive Rfwd3 (MGI:2384584)
chr16 74671854 74701147 16q23.1 16q23.1 615153 MLKL Mixed lineage kinase domain-like protein MLKL 197259 ENSG00000168404 Mlkl (MGI:1921818)
chr16 74712954 74774830 16q23 16q23.1 611026 FA2H, FAAH, FAXDC1, FAH1, SCS7, SPG35 Fatty acid 2-hydroxylase FA2H 79152 ENSG00000103089 Spastic paraplegia 35, autosomal recessive, 612319 (3), Autosomal recessive Fa2h (MGI:2443327)
chr16 74873567 74985145 16q23.1 16q23.1 617418 WDR59, KIAA1923 WD repeat-containing protein 59 WDR59 79726 ENSG00000103091 Wdr59 (MGI:2442115)
chr16 74999016 75110993 16q23.1 16q23.1 612060 ZNRF1, NIN283 Zinc finger and ring finger protein 1 ZNRF1 84937 ENSG00000186187 Znrf1 (MGI:2177308)
chr16 75111859 75116794 Chr.16 16q23.1 607490 LDHD D-lactate dehydrogenase LDHD 197257 ENSG00000166816 Ldhd (MGI:106428)
chr16 75126284 75172233 16q23.1 16q23.1 617230 ZFP1, ZNF475 Zinc finger protein 1, mouse, homolog of ZFP1 162239 ENSG00000184517 Zfp1 (MGI:99154)
chr16 75218985 75224926 16q23.2-q23.3 16q23.1 118890 CTRB1 Chymotrypsinogen B1 CTRB1 1504 ENSG00000168925 HP-7cM-TAT-9cM-CTRB
chr16 75228186 75268052 16q23.1 16q23.1 602941 BCAR1, CRKAS, CAS Breast cancer antiestrogen resistance 1 BCAR1 9564 ENSG00000050820 Bcar1 (MGI:108091)
chr16 75293709 75433488 16q22.2-q22.3 16q23.1 608108 CFDP1, CP27, BCNT Craniofacial development protein 1 CFDP1 10428 ENSG00000153774 Cfdp1 (MGI:1344403)
chr16 75473123 75495429 16q22 16q23.1 605294 CHST6, MCDC1 Carbohydrate sulfotransferase-6 (GlcNAc-6-sulfotransferase, corneal) CHST6 4166 ENSG00000183196 Macular corneal dystrophy, 217800 (3), Autosomal recessive Chst5 (MGI:1931825)
chr16 75528529 75535169 16q22 16q23.1 604817 CHST5 Carbohydrate sulfotransferase-5 (GlcNAc-6-O-sulfotransferase, intestinal) CHST5 23563 ENSG00000135702
chr16 75538116 75556285 16q23.1 16q23.1 614949 TMEM231, JBTS20, MKS11 Transmembrane protein 231 TMEM231 79583 ENSG00000205084 Joubert syndrome 20, 614970 (3), Autosomal recessive; Meckel syndrome 11, 615397 (3), Autosomal recessive Tmem231 (MGI:2685024)
chr16 75566350 75577880 16q22.3-q24.1 16q23.1 607452 GABARAPL2 GABA-A receptor-associated protein-like protein 2 GABARAPL2 11345 ENSG00000034713 Gabarapl2 (MGI:1890602)
chr16 75596878 75623322 16q22.2-q22.3 16q23.1 604230 ADAT1 Adenosine deaminase, tRNA-specific, 1 ADAT1 23536 ENSG00000065457 Adat1 (MGI:1353631)
chr16 75627723 75647686 16q22.2-q22.3 16q23.1 601421 KARS, CMTRIB, DFNB89 Lysyl-tRNA synthetase KARS 3735 ENSG00000065427 mutation identified in 1 CMTRIB patient ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3), Autosomal recessive; Deafness, autosomal recessive 89, 613916 (3), Autosomal recessive Kars (MGI:1934754)
chr16 75647736 75657441 16q23.1 16q23.1 605061 TERF2IP, RAP1 Telomeric repeat binding factor 2, interacting protein TERF2IP 54386 ENSG00000166848 Terf2ip (MGI:1929871)
chr16 76277216 76563609 16q22 16q23.1 610518 CNTNAP4, CASPR4, KIAA1763 Contactin-associated protein-like 4 CNTNAP4 85445 ENSG00000152910 Cntnap4 (MGI:2183572)
chr16 77190918 77199645 16q23.1 16q23.1 608954 MON1B, SRG1, KIAA0872 Mon1, S. cerevisiae, homolog of, B MON1B 22879 ENSG00000103111 Mon1b (MGI:1923231)
chr16 77282127 77435113 16q23 16q23.1 607512 ADAMTS18, MMCAT A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 18 ADAMTS18 170692 ENSG00000140873 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3), Autosomal recessive Adamts18 (MGI:2442600)
chr16 78022545 78032105 16q23 16q23.1 613588 CLEC3A, CLECSF1 C-type lectin domain family 3, member A CLEC3A 10143 ENSG00000166509 Clec3a (MGI:2685642)
chr16 78099412 79212666 16q23.3-q24.1 16q23.1-q23.2 605131 WWOX, FOR, SCAR12, EIEE28 WW domain-containing oxidoreductase WWOX 51741 ENSG00000186153 Epileptic encephalopathy, early infantile, 28, 616211 (3), Autosomal recessive; Esophageal squamous cell carcinoma, somatic, 133239 (3); Spinocerebellar ataxia, autosomal recessive 12, 614322 (3), Autosomal recessive Wwox (MGI:1931237)
chr16 79202623 79601951 16q22-q23 16q23.2 177075 MAF, CCA4, CTRCT21, AYGRP v-Maf avian musculoaponeurotic fibrosarcoma oncogene homolog MAF 4094 ENSG00000178573 Ayme-Gripp syndrome, 601088 (3), Autosomal dominant; Cataract 21, multiple types, 610202 (3), Autosomal dominant Maf (MGI:96909)
chr16 79721311 79770531 16q23.2 16q23.2 616264 MAFTRR, lincMAF4 MAF transcriptional regulator FNA, noncoding MAFTRR 102467146
chr16 80540258 80550810 16q23.3 16q23.2 607168 DYNLRB2, DNCL2B Dynein, light chain, roadblock-type 2 DYNLRB2 83657 ENSG00000168589 Dynlrb2 (MGI:1922715)
chr16 81006497 81033106 16q23.2 16q23.2 611509 CENPN Centromere protein N CENPN 55839 ENSG00000166451 Cenpn (MGI:1919405)
chr16 81035852 81047345 16q23.2 16q23.2 614693 ATMIN, ASCIZ, KIAA0431 ATM interactor ATMIN 23300 ENSG00000166454 Atmin (MGI:2682328)
chr16 81081946 81096374 16q24 16q23.2 238330 GCSH, NKH Glycine cleavage system H protein GCSH 2653 ENSG00000140905 Glycine encephalopathy, 605899 (3), Autosomal recessive Gcsh (MGI:1915383)
chr16 81100878 81220369 16q23.2 16q23.2 607894 PKD1L2, PC1L2, KIAA1879 Polycystin 1-like 2 PKD1L2 114780 ENSG00000166473 Pkd1l2 (MGI:2664668)
chr16 81238447 81291141 16q21-q23 16q23.2 605748 BCO1, BCMO1, BCDO Beta-carotene oxygenase 1 BCO1 53630 ENSG00000135697 mutation identified in 1 HCVAD patient ?Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3), Autosomal dominant Bco1 (MGI:1926923)
chr16 81314940 81380197 16q24.1 16q23.2 605379 GAN, GAN1 Gigaxonin GAN 8139 ENSG00000261609 Giant axonal neuropathy-1, 256850 (3), Autosomal recessive Gan (MGI:1890619)
chr16 81445169 81711761 16q24 16q23.2-q23.3 610112 CMIP, KIAA1694, TCMIP C-MAF-inducing protein CMIP 80790 ENSG00000153815 Cmip (MGI:1921690)
chr16 81600000 84100000 16q23.3 613836 ADIPQTL5 Adiponectin, serum level of, quantitative trait locus 5 100653375 associated with rs3865188 {Adiponectin, serum level of, QTL5], 613836 (2)
chr16 81779257 81962692 16q24.1 16q23.3 600220 PLCG2, FCAS3, APLAID Phospholipase C, gamma 2 PLCG2 5336 ENSG00000197943 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3), Autosomal dominant; Familial cold autoinflammatory syndrome 3, 614468 (3), Autosomal dominant Plcg2 (MGI:97616)
chr16 81997645 82011525 16q23.3 16q23.3 616164 SDR42E1 Short-chain dehydrogenase/reductase family 42E, member 1 SDR42E1 93517 ENSG00000184860 Sdr42e1 (MGI:1921282)
chr16 82035252 82098533 16q24.1-q24.2 16q23.3 109685 HSD17B2, EDH17B2 Hydroxysteroid (17-beta) dehydrogenase 2 HSD17B2 3294 ENSG00000086696 Hsd17b2 (MGI:1096386)
chr16 82148161 82170223 Chr.16 16q23.3 605500 MPHOSPH6, MPP M-phase phosphoprotein 6 MPHOSPH6 10200 ENSG00000135698 Mphosph6 (MGI:1915783)
chr16 82626793 83796609 16q24.2-q24.3 16q23.3 601364 CDH13, CDHH Cadherin-13 (H-cadherin, heart) CDH13 1012 ENSG00000140945 Cdh13 (MGI:99551)
chr16 83807902 83813001 16q23.3 16q23.3 604553 HSBP1 Heat-shock factor-binding protein 1 HSBP1 3281 ENSG00000230989 Hsbp1 (MGI:1915446)
chr16 83899124 83916181 16q24 16q23.3 606761 MLYCD, MCD Malonyl-CoA decarboxylase MLYCD 23417 ENSG00000103150 Malonyl-CoA decarboxylase deficiency, 248360 (3), Autosomal recessive Mlycd (MGI:1928485)
chr16 83953221 83966331 16q23.3 16q23.3 607975 OSGIN1, OKL38 Oxidative stress-induced growth inhibitor 1 OSGIN1 29948 ENSG00000140961 Osgin1 (MGI:1919089)
chr16 84009666 84043371 16q23.3 16q23.3 615585 SLC38A8, FVH2 Solute carrier family 38 (amino acid transporter), member 8 SLC38A8 146167 ENSG00000166558 Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3), Autosomal recessive Slc38a8 (MGI:2685433)
chr16 84053760 84116942 16q24 16q23.3-q24.1 603355 MBTPS1, S1P Membrane-bound transcription factor protease, site 1 MBTPS1 8720 ENSG00000140943 Mbtps1 (MGI:1927235)
chr16 84100000 87000000 16q24.1 607687 HDLC3 High density lipoprotein cholesterol, low serum, 3 353125 {High density lipoprotein cholesterol, low serum, 3}, 607687 (2)
chr16 84100000 90338345 16q24 613547 STQTL22 Stature quantitative trait locus 22 100529227 linked to rs299956 and rs2076962 {Stature QTL 22}, 613547 (2)
chr16 84145259 84178760 16q24.1 16q24.1 613190 DNAAF1, LRRC50, ODA7, CILD13 Dynein, axonemal, assembly factor 1 DNAAF1 123872 ENSG00000154099 Ciliary dyskinesia, primary, 13, 613193 (3), Autosomal recessive Dnaaf1 (MGI:1915520)
chr16 84177846 84187069 16q24 16q24.1 604905 TAF1C, TAFI110, SL1 TATA box-binding protein-associated factor 1C TAF1C 9013 ENSG00000103168 Taf1c (MGI:109576)
chr16 84221134 84239749 16q24.1 16q24.1 607603 KCNG4, KV6.3, KV6.4 Potassium channel, voltage-gated, subfamily G, member 4 KCNG4 93107 ENSG00000168418 Kcng4 (MGI:1913983)
chr16 84292232 84329850 16q24.3 16q24.1 605322 WFDC1, PS20 WAP four-disulfide core domain-1, mouse, homolog of WFDC1 58189 ENSG00000103175 Wfdc1 (MGI:1915116)
chr16 84368522 84465776 16q24.1 16q24.1 613082 ATP2C2, SPCA2, KIAA0703 ATPase, Ca(2+)-transporting, type 2C, member 2 ATP2C2 9914 ENSG00000064270 Atp2c2 (MGI:1916297)
chr16 84565595 84618095 16q24.1 16q24.1 606748 COTL1, CLP Coactosin-like protein 1 COTL1 23406 ENSG00000103187 pseudogenes on 15, 17, and Y Cotl1 (MGI:1919292)
chr16 84699948 84779921 16q24.1 16q24.1 609818 USP10, KIAA0190 Ubiquitin-specific protein 10 USP10 9100 ENSG00000103194 Usp10 (MGI:894652)
chr16 84819980 84909509 16q24.1 16q24.1 612434 CRISPLD2 Cysteine-rich secretory protein, LCCL domain-containing, 2 CRISPLD2 83716 ENSG00000103196 Crispld2 (MGI:1926142)
chr16 84974459 85011534 16q24.1 16q24.1 614604 ZDHHC7, DHHC7 Zinc finger DHHC domain-containing protein 7 ZDHHC7 55625 ENSG00000153786 Zdhhc7 (MGI:2142662)
chr16 85027708 85094229 16q24.1 16q24.1 611675 KIAA0513 KIAA0513 gene KIAA0513 9764 ENSG00000135709 6430548M08Rik (MGI:2443793)
chr16 85098351 85112507 16q24.1 16q24.1 617274 FAM92B Family with sequence similarity 92, member B FAM92B 339145 ENSG00000153789 Fam92b (MGI:3588213)
chr16 85169511 85676205 16q24.1 16q24.1 616886 GSE1, KIAA0182 GSE1 coiled-coil protein GSE1 23199 ENSG00000131149 Gse1 (MGI:1098275)
chr16 85677673 85688981 16q24.1 16q24.1 610609 GINS2, PSF2 GINS complex subunit 2 GINS2 51659 ENSG00000131153 Gins2 (MGI:1921019)
chr16 85778623 85799554 16q24.1 16q24.1 604886 EMC8, NOC4 ER membrane protein complex subunit 8 EMC8 10328 ENSG00000131148 Emc8 (MGI:1343095)
chr16 85799566 85807002 16q22-qter 16q24.1 123864 COX4I1, COX4 Cytochrome c oxidase, subunit IV, isoform 1 COX4I1 1327 ENSG00000131143 Cox4i1 (MGI:88473)
chr16 85899167 85922605 16q24.1 16q24.1 601565 IRF8, ICSBP1, IMD32A, IMD32B Interferon regulatory factor 8 IRF8 3394 ENSG00000140968 Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3), Autosomal dominant; Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 614894 (3), Autosomal recessive Irf8 (MGI:96395)
chr16 86196180 86199719 16q24.1 16q24.1 614978 TCONS00024492 Long noncoding RNA TCONS_00024492 LINC01082 100506542
chr16 86225579 86286246 16q24.1 16q24.1 614977 LINC01081, TCONS00024764 Long intergenic non-protein coding RNA 1081 LINC01081 101154687
chr16 86474524 86508859 16q24.1 16q24.1 614975 FENDRR, FOXF1AS1, TCONS_00024240 FOXF1 adjacent noncoding developmental regulatory RNA FENDRR 400550 partial overlap with FOXF1 promoter
chr16 86510526 86514463 16q24 16q24.1 601089 FOXF1, FKHL5, ACDMPV Forkhead box F1 FOXF1 2294 ENSG00000103241 Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3), Autosomal dominant Foxf1 (MGI:1347470)
chr16 86530175 86555839 16q24.1 16q24.1 616820 MTHFSD Methenyltetrahydrofolate synthetase domain-containing protein MTHFSD 64779 ENSG00000103248 Mthfsd (MGI:2679252)
chr16 86567250 86568932 16q24.3 16q24.1 602402 FOXC2, FKHL14, MFH1 Forkhead box C2 FOXC2 2303 ENSG00000176692 Lymphedema-distichiasis syndrome, 153400 (3), Autosomal dominant; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3), Autosomal dominant Foxc2 (MGI:1347481)
chr16 86578508 86581697 16q24.1 16q24.1 603252 FOXL1, FKHL11, FREAC7, FKH6 Forkhead box L1 FOXL1 2300 ENSG00000176678 Foxl1 (MGI:1347469)
chr16 87326986 87392106 16q24.3 16q24.2 609102 FBXO31, FBX31, FBXO14, FBX14, MRT45 F-box only protein 31 FBXO31 79791 ENSG00000103264 mutation identified in 1 MRT45 family ?Mental retardation, autosomal recessive 45, 615979 (3), Autosomal recessive Fbxo31 (MGI:1354708)
chr16 87392194 87404773 16q24.2 16q24.2 609604 MAP1LC3B, LC3B Microtubule-associated protein 1, light chain 3, beta MAP1LC3B 81631 ENSG00000140941 Map1lc3b (MGI:1914693)
chr16 87601834 87698155 16q24.3 16q24.2 605268 JPH3, JP3, HDL2 Junctophilin 3 JPH3 57338 ENSG00000154118 mutation identified in 1 HDL2 family ?Huntington disease-like 2, 606438 (3), Autosomal dominant Jph3 (MGI:1891497)
chr16 87830015 87869498 16q24.3 16q24.2 600182 SLC7A5, D16S469E, MPE16 Solute carrier family 7, member 5 SLC7A5 8140 ENSG00000103257 Slc7a5 (MGI:1298205)
chr16 87888012 87936574 16q24.3 16q24.2 114761 CA5A, CA5AD Carbonic anhydrase VA (mitochondrial) CA5A 763 ENSG00000174990 pseudogene on 16p Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3), Autosomal recessive Car5a (MGI:101946)
chr16 87949215 88077317 16q24 16q24.2 611564 BANP, SMAR1 BTG3-associated nuclear protein BANP 54971 ENSG00000172530 Banp (MGI:1889023)
chr16 88424804 88440756 16q24 16q24.2 612078 ZNF469, KIAA1858, BCS1 Zinc finger protein 469 ZNF469 84627 ENSG00000225614 Brittle cornea syndrome 1, 229200 (3), Autosomal recessive Zfp469 (MGI:2684868)
chr16 88451781 88535165 16q24.3 16q24.2 601950 ZFPM1, FOG, FOG1 Zinc finger protein, multitype 1 (friend of GATA1) ZFPM1 161882 ENSG00000179588 Zfpm1 (MGI:1095400)
chr16 88638592 88640473 16q24 16q24.2 604628 IL17C Interleukin 17C IL17C 27189 ENSG00000124391 Il17c (MGI:2446486)
chr16 88643288 88651083 16q24 16q24.2 608508 CYBA Cytochrome b-245, alpha polypeptide CYBA 1535 ENSG00000051523 Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3), Autosomal recessive Cyba (MGI:1316658)
chr16 88651934 88663152 16q24.3 16q24.2 603236 MVD, MPD, POROK7 Mevalonate pyrophosphate decarboxylase MVD 4597 ENSG00000167508 Porokeratosis 7, multiple types, 614714 (3), Autosomal dominant Mvd (MGI:2179327)
chr16 88677681 88686473 16q24.3 16q24.2 612741 SNAI3, SNAIL3, SMUC, ZFP293 SNAIL, Drosophila, homolog of, 3 SNAI3 333929 ENSG00000185669 Snai3 (MGI:1353563)
chr16 88696494 88706420 16q24.2-q24.3 16q24.2-q24.3 617178 RNF166 RING finger protein 166 RNF166 115992 ENSG00000158717 Rnf166 (MGI:1915968)
chr16 88700000 90338345 16q24.3 612525 IHPS5 Pyloric stenosis, infantile hypertrophic, 5 100270639 between rs7197068 and rs750740 Pyloric stenosis, infantile hypertrophic, 5, 612525 (2)
chr16 88715337 88785219 16q24.3 16q24.3 611184 PIEZO1, FAM38A, MIB, DHS, LMPH3 PIEZO1 ion channel PIEZO1 9780 ENSG00000103335 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3), Autosomal dominant; Lymphedema, hereditary, III, 616843 (3), Autosomal recessive Piezo1 (MGI:3603204)
chr16 88803777 88809257 16q24.3 16q24.3 605525 CDT1 Chromatin licensing and DNA replication factor 1 CDT1 81620 ENSG00000167513 Meier-Gorlin syndrome 4, 613804 (3), Autosomal recessive Cdt1 (MGI:1914427)
chr16 88809468 88811933 16q24.3 16q24.3 102600 APRT, APRTD Adenine phosphoribosyltransferase APRT 353 ENSG00000198931 telomeric to GALNS, transcribed in same cen-tel direction Adenine phosphoribosyltransferase deficiency, 614723 (3), Autosomal recessive Aprt (MGI:88061)
chr16 88813733 88856969 16q24.3 16q24.3 612222 GALNS, MPS4A Galactosamine (N-acetyl)-6-sulfate sulfatase GALNS 2588 ENSG00000141012 centromeric to APRT Mucopolysaccharidosis IVA, 253000 (3), Autosomal recessive Galns (MGI:1355303)
chr16 88856219 88862685 16q22.1-q22.2 16q24.3 610970 TRAPPC2L Trafficking protein particle complex 2-like TRAPPC2L 51693 ENSG00000167515 Trappc2l (MGI:1916295)
chr16 88874854 88977148 16q24 16q24.3 603870 CBFA2T3, MTGR2, MTG16 Core-binding factor, alpha subunit 2, translocated to, 3 CBFA2T3 863 ENSG00000129993 Cbfa2t3 (MGI:1338013)
chr16 89093808 89160555 16q24.3 16q24.3 614245 ACSF3 Acyl-CoA synthetase family member 3 ACSF3 197322 ENSG00000176715 Combined malonic and methylmalonic aciduria, 614265 (3) Acsf3 (MGI:2182591)
chr16 89171754 89195491 16q24.3 16q24.3 114019 CDH15, CDH14, CDH3, MRD3 Cadherin-15, M-cadherin (myotubule) CDH15 1013 ENSG00000129910 tightly linked to Aprt in mouse Mental retardation, autosomal dominant 3, 612580 (3) Cdh15 (MGI:106672)
chr16 89267618 89490560 16q24.3 16q24.3 611192 ANKRD11, ANCO1, KBGS Ankyrin repeat domain-containing protein 11 ANKRD11 29123 ENSG00000167522 KBG syndrome, 148050 (3), Autosomal dominant Ankrd11 (MGI:1924337)
chr16 89508378 89557767 16q24.3 16q24.3 602783 PGN, SPG7, CMAR, CAR Paraplegin SPG7 6687 ENSG00000197912 Spastic paraplegia 7, autosomal recessive, 607259 (3), Autosomal recessive, Autosomal dominant Spg7 (MGI:2385906)
chr16 89560656 89566828 16q24.3 16q24.3 113703 RPL13, BBC1, D16S44E Ribosomal protein L13 RPL13 6137 ENSG00000167526 Rpl13-ps6,Rpl13 (MGI:3642685,MGI:105922)
chr16 89575767 89597245 16q24.3 16q24.3 605689 CPNE7 Copine VII CPNE7 27132 ENSG00000178773 Cpne7 (MGI:2142747)
chr16 89613307 89641539 16q24.3 16q24.3 179780 DPEP1, RDP, MDP, MBD1 Dipeptidase 1 DPEP1 1800 ENSG00000015413 Dpep1 (MGI:94917)
chr16 89644430 89657784 16q24.3 16q24.3 164010 CHMP1A, PCOLN3, PRSM1, PCH8 CHMP family, member 1A CHMP1A 5119 ENSG00000131165 Pontocerebellar hypoplasia, type 8, 614961 (3), Autosomal recessive Chmp1a (MGI:1920159)
chr16 89657743 89670457 16q24.3 16q24.3 615409 SPATA33, C16orf55 Spermatogenesis-associated protein 33 SPATA33 124045 ENSG00000167523 Spata33 (MGI:2444920)
chr16 89686611 89696363 16q24 16q24.3 603464 CDK10, PISSLRE, ALSAS Cyclin-dependent kinase 10 CDK10 8558 ENSG00000185324 Al Kaissi syndrome, 617694 (3), Autosomal recessive Cdk10 (MGI:2448549)
chr16 89720367 89740924 16q24.3 16q24.3 608460 ZFP276 Zinc finger protein 276 ZNF276 92822 ENSG00000158805 Zfp276 (MGI:1888495)
chr16 89737548 89816657 16q24.3 16q24.3 607139 FANCA, FACA, FA1, FA, FAA Fanconi anemia, complementation group A FANCA 2175 ENSG00000187741 linkage heterogeneity Fanconi anemia, complementation group A, 227650 (3), Autosomal recessive Fanca (MGI:1341823)
chr16 89873585 89911383 16q24.3 16q24.3 612326 TCF25, NULP1, KIAA1049 Transcription factor 25 TCF25 22980 ENSG00000141002 Tcf25 (MGI:1914105)
chr16 89917878 89920976 16q24.3 16q24.3 155555 MC1R, SHEP2, CMM5 Melanocortin-1 receptor (alpha melanocyte-stimulating hormone receptor) MC1R 4157 ENSG00000258839 {Albinism, oculocutaneous, type II, modifier of}, 203200 (3), Autosomal recessive; [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3); {Melanoma, cutaneous malignant, 5}, 613099 (3); [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3), Autosomal recessive; [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3), Autosomal recessive; {UV-induced skin damage}, 266300 (3), Autosomal recessive Mc1r (MGI:99456)
chr16 89922008 89936096 16q24.3 16q24.3 602661 TUBB3, TUBB4, CFEOM3A, CDCBM1 Tubulin, beta-3 TUBB3 10381 ENSG00000258947 Cortical dysplasia, complex, with other brain malformations 1, 614039 (3), Autosomal dominant; Fibrosis of extraocular muscles, congenital, 3A, 600638 (3), Autosomal dominant Tubb3 (MGI:107813)
chr16 89972579 90000786 16q24 16q24.3 603020 AFG3L1, AFG3 ATPase family gene 3, yeast, homolog of AFG3L1P 172 ENSG00000223959
chr16 90019628 90044970 16q24.3 16q24.3 605178 GAS8, GAS11, CILD33 Growth arrest-specific 8 GAS8 2622 ENSG00000141013 Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive Gas8 (MGI:1202386)
chr16 90028907 90029900 16q24.3 16q24.3 605179 GAS8-AS1, C16orf3, EID1 GAS8 antisense RNA 1 GAS8-AS1 750
chr16 90039760 90047782 16q24.3 16q24.3 615805 URAHP, URAH Urate (hydroxyiso-) hydrolase, pseudogene URAHP 100130015
chr16 0 90338345 Chr.16 133290 ESB3 Esterase-B3 ESB3 2097
chr16 0 90338345 Chr.16 138060 GRLL1 Glucocorticoid receptor-like 1 NR3C1P1 2910
chr16 0 90338345 Chr.16 147573 IFNR Interferon production regulator IFNR 3466
chr16 0 90338345 Chr.16 247980 LIPB Lipase B, lysosomal acid LIPB 3989
chr16 0 90338345 Chr.16 118870 NHCP1 Nonhistone chromosomal protein-1 NHCP1 4805
chr16 0 90338345 Chr.16 125260 VDI, DIPI Vesicular stomatitis virus defective interfering particle repressor VDI 7420
chr17 0 10800000 17p13 608631 ASPG2 Asperger syndrome, susceptibility to, 2 431711 breakpoints between CHRNE and GP1BA {Asperger syndrome susceptibility 2}, 608631 (2), Isolated cases, Multifactorial
chr17 0 3400000 17p13.3 113721 BCPR Breast cancer-related regulator of TP53 Breast cancer (1)
chr17 0 25100000 17p 215500 CACD1 Choroidal dystrophy, central areolar 1 Choroidal dystrophy, central areolar 1, 215500 (2), Autosomal recessive
chr17 0 10800000 17p13 601202 CTRCT24, CTAA2 Cataract 24, anterior polar CTAA2 1484 Cataract 24, anterior polar, 601202 (2), Autosomal dominant
chr17 0 3400000 17p13.3 615674 DDD3 Dowling-Degos disease 3 102997065 max lod at D17S1529 Dowling-Degos disease 3, 615674 (2), Autosomal dominant
chr17 0 3400000 17p13.3 613215 DUP17p13.3, C17DUPp13.3 Chromosome 17p13.3 duplication syndrome includes LIS1 and/or YWHAE Chromosome 17p13.3 duplication syndrome, 613215 (4)
chr17 0 3400000 17p13.3 247200 MDLS, MDS, MDCR, DEL17p13.3, C17DELp13.3 Miller-Dieker lissencephaly syndrome (chromosome 17p13.3 deletion syndrome) Miller-Dieker lissencephaly syndrome, 247200 (4), Autosomal dominant
chr17 0 16100000 17p13.3-p12 616964 MSPC Palmoplantar carcinoma, multiple self-healing between rs8065368 and rs2322788 Palmoplantar carcinoma, multiple self-healing, 616964 (2)
chr17 0 10800000 17p13 605779 NDNC7 Nail disorder, nonsyndromic congenital, 7 (onychodysplasia, isolated congenital) 81866 Nail disorder, nonsyndromic congenital, 7, 605779 (2), Autosomal dominant
chr17 0 10800000 17p13.3-p13.1 612576 SHFLD3, DUP17p13.3, C17DUPp13.3 Split-hand/foot malformation with long bone deficiency 3 max lod at or near D17S1533; contiguous gene duplication syndrome Split-hand/foot malformation with long bone deficiency 3, 612576 (4), Autosomal dominant
chr17 0 10800000 17p13 613498 SXGQTL1 Sex hormone-binding globulin circulating level quantitative trait locus 1 100528025 associated with rs1799941 [Sex hormone-binding globulin circulating level QTL 1], 613498 (2)
chr17 146804 181629 17p13.3 17p13.3 604568 DOC2B Double C2-like domain-containing protein, beta DOC2B 8447 ENSG00000272636 Doc2b (MGI:1100497)
chr17 212148 386266 17p13.3 17p13.3 604881 RPH3AL, NOC2 Rabphilin 3A-like RPH3AL 9501 ENSG00000181031 Rph3al (MGI:1923492)
chr17 439977 445939 17p13.3 17p13.3 615928 FAM101B, CFM1 Family with sequence similarity 101, member B RFLNB 359845 ENSG00000183688 Rflnb (MGI:1923816)
chr17 508667 714855 17p13.3 17p13.3 615850 VPS53, HCCS1, PCH2E Vacuolar protein sorting 53, S. cerevisiae, homolog of VPS53 55275 ENSG00000141252 Pontocerebellar hypoplasia, type 2E, 615851 (3), Autosomal recessive Vps53 (MGI:1915549)
chr17 732545 742967 17p13.3 17p13.3 611627 FAM57A, CT120 Family with sequence similarity 57, member A FAM57A 79850 ENSG00000167695 Fam57a (MGI:2151840)
chr17 744420 752867 17p13.3 17p13.3 606969 GEMIN4, NEDMCR Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities GEMIN4 50628 ENSG00000179409 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3), Autosomal recessive Gemin4 (MGI:2449313)
chr17 782328 792508 17p13.3 17p13.3 612600 RNMTL1, HC90 RNA methyltransferase-like 1 MRM3 55178 ENSG00000171861 Mrm3 (MGI:1914640)
chr17 799312 979765 17p13.3 17p13.3 612895 NXN Nucleoredoxin NXN 64359 ENSG00000167693 Nxn (MGI:109331)
chr17 996892 1002182 17p13.3 17p13.3 607251 TIMM22, TIM22 Translocase of inner mitochondrial membrane 22, yeast, homolog of TIMM22 29928 ENSG00000177370 Timm22 (MGI:1929742)
chr17 1003517 1229711 17p13.3 17p13.3 600365 ABR Active BCR-related gene ABR 29 ENSG00000159842 Abr (MGI:107771)
chr17 1270563 1271270 17p13.3 17p13.3 615416 BHLHA9, BHLHF42, MSSD, CCSPD Basic helix-loop-helix family, member A9 BHLHA9 727857 ENSG00000205899 mutation identified in 1 CCSPD family ?Camptosynpolydactyly, complex, 607539 (3), Autosomal recessive; Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3), Autosomal recessive Bhlha9 (MGI:2444198)
chr17 1279662 1300986 17p13.3 17p13.3 612211 TUSC5, LOST1 Tumor suppressor candidate 5 TRARG1 286753 ENSG00000184811 Tusc5 (MGI:3029307)
chr17 1344538 1400261 17p13.3 17p13.3 605066 YWHAE, MDCR, MDS Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform YWHAE 7531 ENSG00000108953 Ywhae (MGI:894689)
chr17 1421352 1456266 17p13.3 17p13.3 164762 CRK Avian sarcoma virus CT10 (v-crk) oncogene homolog CRK 1398 ENSG00000167193 Crk (MGI:88508)
chr17 1464185 1492706 17p13 17p13.3 606538 MYO1C Myosin IC MYO1C 4641 ENSG00000197879 Myo1c (MGI:106612)
chr17 1494574 1516887 17p13.3 17p13.3 607875 INPP5K, SKIP, MDCCAID Inositol polyphosphate-5-phosphatase K INPP5K 51763 ENSG00000132376 Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive Inpp5k (MGI:1194899)
chr17 1517988 1562815 17p13.3 17p13.3 600174 PITPNA, PITPN Phosphotidylinositol transfer protein, alpha PITPNA 5306 ENSG00000174238 Pitpna (MGI:99887)
chr17 1569253 1630013 17p13.3 17p13.3 610791 SLC43A2, LAT4 Solute carrier family 43 (L-type amino acid transporter, member 2 SLC43A2 124935 ENSG00000167703 Slc43a2 (MGI:2442746)
chr17 1633857 1645788 17p13.3 17p13.3 607873 SCARF1, SREC, KIAA0149 Scavenger receptor class F, member 1 SCARF1 8578 ENSG00000074660 Scarf1 (MGI:2449455)
chr17 1646149 1650097 17p13.3 17p13.3 607848 RILP RAB-interacting lysosomal protein RILP 83547 ENSG00000167705 Rilp (MGI:2144271)
chr17 1650628 1684881 17p13.3 17p13.3 607300 PRPF8, PRPC8, RP13 Precursor mRNA-processing factor 8, S. cerevisiae, homolog of PRPF8 10594 ENSG00000174231 Retinitis pigmentosa 13, 600059 (3), Autosomal dominant Prpf8 (MGI:2179381)
chr17 1713902 1713986 17p13.3 17p13.3 612077 MIR22, MIRN22 Micro RNA 22 MIR22 407004
chr17 1716522 1738598 17p13.3 17p13.3 614218 WDR81, CAMRQ2 WD repeat-containing protein 81 WDR81 124997 ENSG00000167716 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3), Autosomal recessive Wdr81 (MGI:2681828)
chr17 1742807 1755264 17pter-p12 17p13.3 613168 PLI, SERPINF2 Alpha-2-plasmin inhibitor SERPINF2 5345 ENSG00000167711 Alpha-2-plasmin inhibitor deficiency, 262850 (3), Autosomal recessive Serpinf2 (MGI:107173)
chr17 1761924 1777573 17p13.3 17p13.3 172860 SERPINF1, PEDF, OI6 Serpin peptidase inhibitor, clade F, member 1 SERPINF1 5176 ENSG00000132386 same region as RP13 Osteogenesis imperfecta, type VI, 613982 (3) Serpinf1 (MGI:108080)
chr17 1829970 1899553 17p13.3 17p13.3 179835 RPA1 Replication protein A1, 70kD RPA1 6117 ENSG00000132383 Rpa1 (MGI:1915525)
chr17 1934676 2025344 17p13.3 17p13.3 610461 RTN4RL1, NGRH2, NGR3 Reticulon 4 receptor-like 1 RTN4RL1 146760 ENSG00000185924 Rtn4rl1 (MGI:2661375)
chr17 2030111 2043430 17p13.3 17p13.3 603527 DPH1, DPH2L1, OVCA1, DEDSSH DPH1, S. cerevisiae, homolog of (ovarian cancer gene 1) DPH1 1801 ENSG00000108963 Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive Dph1 (MGI:2151233)
chr17 2041982 2043430 17p13.3 17p13.3 607896 OVCA2 Ovarian cancer-associated gene 2 OVCA2 124641 ENSG00000262664 Ovca2 (MGI:2179725)
chr17 2049907 2050007 17p13.3 17p13.3 610016 MIR132, MIRN132 Micro RNA 132 MIR132 406921
chr17 2050270 2050379 17p13.3 17p13.3 613487 MIR212, MIRN212 Micro RNA 212 MIR212 406994
chr17 2055098 2059686 17p13.3 17p13.3 603825 HIC1 Hypermethylated in cancer HIC1 3090 ENSG00000177374 Hic1 (MGI:1338010)
chr17 2059838 2303835 17p13.3 17p13.3 610963 SMG6, EST1A, KIAA0732 SMG6, C. elegans, homolog of SMG6 23293 ENSG00000070366 Smg6 (MGI:2144117)
chr17 2303370 2325266 17p13.3 17p13.3 606477 SRR Serine racemase SRR 63826 ENSG00000167720 Srr (MGI:1351636)
chr17 2322677 2337383 17p13.3 17p13.3 611214 TSR1, KIAA1401 TSR1, 20S r RNA accumulation, S. cerevisiae, homolog of TSR1 55720 ENSG00000167721 Tsr1 (MGI:2144566)
chr17 2336491 2381073 17p13.3 17p13.3 611418 SGSM2, KIAA0397 Small G protein signaling modulator 2 SGSM2 9905 ENSG00000141258 Sgsm2 (MGI:2144695)
chr17 2384059 2400963 17p13.3 17p13.3 603039 MNT, ROX MAX-binding protein MNT 4335 ENSG00000070444 Mnt (MGI:109150)
chr17 2593209 2685616 17p13.3 17p13.3 601545 PAFAH1B1, LIS1 Platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit PAFAH1B1 5048 ENSG00000007168 Lissencephaly 1, 607432 (3), Isolated cases; Subcortical laminar heterotopia, 607432 (3), Isolated cases Pafah1b1 (MGI:109520)
chr17 2689385 2711786 17p13.3 17p13.3 616184 CLUH, CLU1, KIAA0664 Clustered mitochondria, D. discoideum, homolog of CLUH 23277 ENSG00000132361 Cluh (MGI:1921398)
chr17 3092057 3092995 17p13.3 17p13.3 164342 OR1D2, OLFR1 Olfactory receptor, family 1, subfamily D, member 2 OR1D2 4991 ENSG00000184166 cluster of 16 genes in 350kb Olfr412 (MGI:3030246)
chr17 3400000 10800000 17p13.2-p13.1 614341 MRT33 Mental retardation, autosomal recessive 33 100852394 between rs1367950 and rs1826925 Mental retardation, autosomal recessive 33, 614341 (2), Autosomal recessive
chr17 3440010 3513851 17p13.2 17p13.2 617673 SPATA22 Spermatogenesis-associated protein 22 SPATA22 84690 ENSG00000141255 Spata22 (MGI:2685728)
chr17 3473645 3502533 17pter-p13 17p13.2 608034 ASPA Aspartoacylase (aminoacylase-2) ASPA 443 ENSG00000108381 Canavan disease, 271900 (3), Autosomal recessive Aspa (MGI:87914)
chr17 3510501 3557994 17p13 17p13.2 607066 TRPV3, OLMS, FNEPPK2 Transient receptor potential cation channel, subfamily V, member 3 TRPV3 162514 ENSG00000167723 mutation identified in 1 FNEPPK2 family Olmsted syndrome, 614594 (3), Autosomal dominant; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3), Autosomal dominant Trpv3 (MGI:2181407)
chr17 3565445 3609410 17p13 17p13.2 602076 TRPV1, VR1 Transient receptor potential cation channel, subfamily V, member 1 (vanilloid receptor 1; capsaicin receptor) TRPV1 7442 ENSG00000196689 Trpv1 (MGI:1341787)
chr17 3608261 3636321 17p13 17p13.2 605060 SHPK, CARKL Sedoheptulokinase SHPK 23729 ENSG00000197417 [Sedoheptulokinase deficiency], 617213 (3), Autosomal recessive Shpk (MGI:1921887)
chr17 3636467 3663102 17p13 17p13.2 606272 CTNS Cystinosin CTNS 1497 ENSG00000040531 ?3 allelic forms Cystinosis, atypical nephropathic, 219800 (3), Autosomal recessive; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3), Autosomal recessive; Cystinosis, nephropathic, 219800 (3), Autosomal recessive; Cystinosis, ocular nonnephropathic, 219750 (3), Autosomal recessive Ctns (MGI:1932872)
chr17 3662892 3668678 17p13 17p13.2 616484 TAX1BP3, TIP1 TAX1-binding protein 3 TAX1BP3 30851 ENSG00000213977 Tax1bp3 (MGI:1923531)
chr17 3714624 3803765 17p13 17p13.2 604682 ITGAE, CD103 Integrin, alpha-E ITGAE 3682 ENSG00000083457 Itgae (MGI:1298377)
chr17 3806747 3846250 17p13.2 17p13.2 616624 NCBP3, C17orf85 Nuclear cap-binding protein 3 NCBP3 55421 ENSG00000074356 Ncbp3 (MGI:1914124)
chr17 3896590 3916665 17p13.3 17p13.2 600845 P2RX1, P2X1 Purinergic receptor P2X, ligand-gated ion channel, 1 P2RX1 5023 ENSG00000108405 P2rx1 (MGI:1098235)
chr17 3923868 3964463 17p13.3 17p13.2 601929 ATP2A3, SERCA3 ATPase, Ca(2+)-transporting, ubiquitous ATP2A3 489 ENSG00000074370 Atp2a3 (MGI:1194503)
chr17 4163817 4263994 17p13.2 17p13.2 607927 ANKFY1, ANKHZN, KIAA1255 Ankyrin repeats- and FYVE domain-containing protein 1 ANKFY1 51479 ENSG00000185722 Ankfy1 (MGI:1337008)
chr17 4269216 4366673 17p13.2 17p13.2 601569 UBE2G Ubiquitin-conjugating enzyme E2G (UBC7, C. elegans, homolog of) UBE2G1 7326 ENSG00000132388 possible pseudogene on 1q42 Ube2g1 (MGI:1914378)
chr17 4433923 4488203 17p13.2 17p13.2 611701 SPNS3 Spinster, Drosophila, homolog of, 3 SPNS3 201305 ENSG00000182557 Spns3 (MGI:1924827)
chr17 4498842 4539036 17p13.2 17p13.2 612584 SPNS2 Spinster, Drosophila, homolog of, 2 SPNS2 124976 ENSG00000183018 Spns2 (MGI:2384936)
chr17 4538895 4555385 17p13.3 17p13.2 604885 MYBBP1A, P160 MYB-binding protein 1A MYBBP1A 10514 ENSG00000132382 Mybbp1a (MGI:106181)
chr17 4556926 4560919 17p13.2 17p13.2 612341 GGT6 Gamma-glutamyltransferase 6 GGT6 124975 ENSG00000167741 Ggt6 (MGI:1918772)
chr17 4630918 4641672 17p13.3 17p13.2 152392 ALOX15 Arachidonate 15-lipoxygenase ALOX15 246 ENSG00000161905 Alox15 (MGI:87997)
chr17 4671383 4704336 17p13.3 17p13.2 609455 PELP1, MNAR Proline-, glutamic acid-, and leucine-rich protein 1 PELP1 27043 ENSG00000141456 Pelp1 (MGI:1922523)
chr17 4710493 4721499 17p13 17p13.2 107941 ARRB2 Arrestin, beta 2 ARRB2 409 ENSG00000141480 Arrb2 (MGI:99474)
chr17 4731407 4733609 17p13.2 17p13.2 612383 MED11 Mediator complex subunit 11 MED11 400569 ENSG00000161920 Med11 (MGI:1913422)
chr17 4733528 4739927 17p13 17p13.2 605398 CXCL16 CXC chemokine ligand-16 CXCL16 58191 ENSG00000161921 Cxcl16 (MGI:1932682)
chr17 4740014 4746118 17p13.2 17p13.2 614312 ZMYND15, SPGF14 Zinc finger MYND-containing protein 15 ZMYND15 84225 ENSG00000141497 mutation identified in 1 SPGF14 family ?Spermatogenic failure 14, 615842 (3), Autosomal recessive Zmynd15 (MGI:3603821)
chr17 4771891 4783210 17p13.3 17p13.2 604657 TM4SF5 Transmembrane 4 superfamily, member 5 TM4SF5 9032 ENSG00000142484 Tm4sf5 (MGI:1922854)
chr17 4796143 4798502 17p13.2 17p13.2 600307 PSMB6, LMPY Proteasome subunit, beta-type, 6 PSMB6 5694 ENSG00000142507 Psmb6 (MGI:104880)
chr17 4807100 4823431 17p13.1 17p13.2 602384 PLD2 Phospholipase D2 PLD2 5338 ENSG00000129219 Pld2 (MGI:892877)
chr17 4833339 4898060 17p13.1 17p13.2 609426 MINK1, MINK Misshapen/nik-related kinase 1 MINK1 50488 ENSG00000141503 Mink1 (MGI:1355329)
chr17 4897768 4905018 17p13-p12 17p13.2 100725 CHRNE, SCCMS, CMS4A, CMS4B, CMS4C Cholinergic receptor, nicotinic, epsilon polypeptide CHRNE 1145 ENSG00000108556 Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3), Autosomal recessive, Autosomal dominant; Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3), Autosomal recessive; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3), Autosomal recessive Chrne (MGI:87894)
chr17 4932274 4935029 17pter-p12 17p13.2 606672 GP1BA, BSS, BDPLT1, VWDP, BDPLT3 Glycoprotein Ib, platelet, alpha polypeptide GP1BA 2811 ENSG00000185245 Bernard-Soulier syndrome, type A1 (recessive), 231200 (3), Autosomal recessive; Bernard-Soulier syndrome, type A2 (dominant), 153670 (3), Autosomal dominant; {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3), Autosomal recessive; von Willebrand disease, platelet-type, 177820 (3), Autosomal dominant Gp1ba (MGI:1333744)
chr17 4937129 4940250 17p13.3 17p13.2 604165 SLC25A11, SLC20A4, OGC Solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 SLC25A11 8402 ENSG00000108528 Slc25a11 (MGI:1915113)
chr17 4940007 4945222 17p13.2 17p13.2 610431 RNF167, RING105 RING finger protein 167 RNF167 26001 ENSG00000108523 Rnf167 (MGI:1917760)
chr17 4945649 4949087 17p13.3 17p13.2 176610 PFN1, ALS18 Profilin-1 PFN1 5216 ENSG00000108518 Amyotrophic lateral sclerosis 18, 614808 (3) Pfn1 (MGI:97549)
chr17 4949181 4957130 17pter-p12 17p13.2 131370 ENO3, GSD13 Enolase-3, beta, muscle ENO3 2027 ENSG00000108515 mutation identified in 1 GSD13 patient ?Glycogen storage disease XIII, 612932 (3), Autosomal recessive Eno3 (MGI:95395)
chr17 4959225 4967836 17p13.2 17p13.2 610056 SPAG7 Sperm-associated antigen 7 SPAG7 9552 ENSG00000091640 Spag7 (MGI:107380)
chr17 4967991 4988280 17p13.2 17p13.2 611508 CAMTA2, KIAA0909 Calmodulin-binding transcription activator 2 CAMTA2 23125 ENSG00000108509 Camta2 (MGI:2135957)
chr17 4988129 5006092 17p13 17p13.2 617374 INCA1, HSD45 Inhibitor of CDK, cyclin A1-interacting protein 1 INCA1 388324 ENSG00000196388 Inca1 (MGI:2144284)
chr17 4997947 5028398 17p13.2 17p13.2 603060 KIF1C, LTXS1, KIAA0706, SPAX2 Kinesin family member 1C KIF1C 10749 ENSG00000129250 Spastic ataxia 2, autosomal recessive, 611302 (3), Autosomal recessive Kif1c (MGI:1098260)
chr17 5032601 5035431 17p13.2 17p13.2 607883 SLC52A1, GPR172B, GPCR42, PAR2, FLJ10060, RBFVD Solute carrier family 52, riboflavin transporter, member 1 SLC52A1 55065 ENSG00000132517 Riboflavin deficiency, 615026 (3), Autosomal dominant
chr17 5078458 5096373 17pter-p12 17p13.2 194480 ZFP3 Zinc finger protein-3 ZFP3 124961 ENSG00000180787 probably in cluster with ZNF29 proximal to TP53 Zfp3 (MGI:99177)
chr17 5105733 5123115 17p13.2 17p13.2 616463 ZNF232, ZSCAN11 Zinc finger protein 232 ZNF232 7775 ENSG00000167840
chr17 5116437 5175031 17p13 17p13.2 604334 USP6, TRE2 Ubiquitin-specific protease 6 USP6 9098 ENSG00000129204
chr17 5208919 5234859 17p13.2 17p13.2 614406 SCIMP, C17orf87 SLP adaptor- and CSK-interacting membrane protein SCIMP 388325 ENSG00000161929 Scimp (MGI:3610314)
chr17 5282262 5386339 17p13 17p13.2 603616 RABEP1, RABPT5 RAB GTPase-binding effector protein 1 RABEP1 9135 ENSG00000029725 fused to PDGFRB in CMML Rabep1 (MGI:1860236)
chr17 5384832 5419738 17p13 17p13.2 602552 NUP88 Nucleoporin, 88-kD NUP88 4927 ENSG00000108559 Nup88 (MGI:104900)
chr17 5419640 5433019 17p13 17p13.2 617299 RPAIN, RIP RPA-interacting protein RPAIN 84268 ENSG00000129197 Rpain (MGI:1916973)
chr17 5432778 5439150 17p13.3 17p13.2 601269 C1QBP, HABP1, COXPD33 Complement component C1q binding protein (hyaluronic acid-binding protein 1) C1QBP 708 ENSG00000108561 Combined oxidative phosphorylation deficiency 33, 617713 (3), Autosomal recessive C1qbp (MGI:1194505)
chr17 5440911 5469059 17p13.2 17p13.2 614405 DHX33 DEAH box polypeptide 33 DHX33 56919 ENSG00000005100 Dhx33 (MGI:2445102)
chr17 5471250 5486229 17p13.2 17p13.2 610304 DERL2 DER1-like domain family, member 2 DERL2 51009 ENSG00000072849 Derl2 (MGI:2151483)
chr17 5486373 5490813 17p13.2 17p13.2 609178 MIS12 Mis12, S. pombe, homolog of MIS12 79003 ENSG00000167842 Mis12 (MGI:1914389)
chr17 5501398 5584511 17p13 17p13.2 606636 NLRP1, NALP1, KIAA0926, DEFCAP, CARD7, SLEV1, VAMAS1, MSPC, AIADK NLR family, pyrin domain containing 1 NLRP1 22861 ENSG00000091592 Autoinflammation with arthritis and dyskeratosis, 617388 (3), Autosomal recessive, Autosomal dominant; Palmoplantar carcinoma, multiple self-healing, 615225 (3), Autosomal dominant; {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3) Nlrp1b (MGI:3582959)
chr17 6423736 6435198 17p13.1 17p13.2 604392 AIPL1, LCA4 Arylhydrocarbon-interacting receptor protein-like 1 AIPL1 23746 ENSG00000129221 LCA1 due to GUCY2D mutation also on 17p13.1 Cone-rod dystrophy, 604393 (3), Autosomal recessive; Leber congenital amaurosis 4, 604393 (3), Autosomal recessive; Retinitis pigmentosa, juvenile, 604393 (3), Autosomal recessive Aipl1 (MGI:2148800)
chr17 6444414 6451064 17p13.2 17p13.2 617611 PIMREG, RCS1, FAM64A PICALM-interacting mitotic regulator PIMREG 54478 ENSG00000129195 Pimreg (MGI:1924434)
chr17 6451262 6556556 17p13.1 17p13.2-p13.1 608921 PITPNM3, NIR1, CORD5 Phosphatidylinositol transfer protein, membrane-associated, 3 PITPNM3 83394 ENSG00000091622 Cone-rod dystrophy 5, 600977 (3), Autosomal dominant Pitpnm3 (MGI:2685726)
chr17 6500000 10800000 17p13.1 613776 DEL17p13.1, C17DELp13.1 Chromosome 17p13.1 deletion syndrome contiguous gene deletion syndrome Chromosome 17p13.1 deletion syndrome, 613776 (4), Autosomal dominant
chr17 6578150 6640926 17p13.1 17p13.1 617112 KIAA0753, OFIP, OFD15 KIAA0753 gene KIAA0753 9851 ENSG00000198920 mutation identified in 1 OFD15 patient ?Orofaciodigital syndrome XV, 617127 (3), Autosomal recessive 4933427D14Rik (MGI:1921727)
chr17 6640901 6644540 17p13.1 17p13.1 616967 TXNDC17, TRP14, TXNL5 Thioredoxin domain-containing protein 17 TXNDC17 84817 ENSG00000129235 Txndc17 (MGI:1289248)
chr17 6684712 6713420 17p13-p12 17p13.1 608305 SLC13A5, NACT, EIEE25 Solute carrier family 13 (sodium-dependent citrate transporter), member 5 SLC13A5 284111 ENSG00000141485 Epileptic encephalopathy, early infantile, 25, 615905 (3), Autosomal recessive Slc13a5 (MGI:3037150)
chr17 6755407 6775646 17p13.2 17p13.1 606717 XAF1 XIAP-associated factor 1 XAF1 54739 ENSG00000132530 Xaf1 (MGI:3772572)
chr17 6776232 6787645 17p13.2 17p13.1 609106 FBXO39, FBX39 F-box protein 39 FBXO39 162517 ENSG00000177294 Fbxo39 (MGI:3505735)
chr17 6799980 6831740 17p13.1 17p13.1 609002 TEKT1 Tektin 1 TEKT1 83659 ENSG00000167858 Tekt1 (MGI:1333819)
chr17 6993790 7010735 17p13.1 17p13.1 152391 ALOX12 Arachidonate 12-lipoxygenase ALOX12 239 ENSG00000108839 pseudogene also on chr.17 Alox12 (MGI:87998)
chr17 7012416 7014532 17p13.1 17p13.1 617098 RNASEK Ribonuclease K RNASEK 440400 ENSG00000219200 Rnasek (MGI:106369)
chr17 7014736 7017523 17p13.1 17p13.1 617215 C17orf49, BAP18 Chromosome 17 open reading frame 49 C17orf49 124944 ENSG00000258315 0610010K14Rik (MGI:1915609)
chr17 7017614 7017700 17p13.1 17p13.1 610718 MIR195, MIRN195 Micro RNA 195 MIR195 406971
chr17 7017910 7018021 17p13.1 17p13.1 615672 MIR497 Micro RNA 497 MIR497 574456
chr17 7023049 7029641 17p13.1 17p13.1 608992 BCL6B, BAZF B-cell lymphoma 6B BCL6B 255877 ENSG00000161940 Bcl6b (MGI:1278332)
chr17 7041629 7044410 17p13.2 17p13.1 615765 SLC16A11, MCT11 Solute carrier family 16, member 11 SLC16A11 162515 ENSG00000174326 Slc16a11 (MGI:2663709)
chr17 7074536 7080306 17p13.1 17p13.1 605999 CLEC10A, CLECSF14, MGL, HML, CD301 C-type lectin domain family 10, member A CLEC10A 10462 ENSG00000132514 Clec10a,Mgl2 (MGI:2385729,MGI:96975)
chr17 7101321 7115537 17p 17p13.1 108361 ASGR2 Asialoglycoprotein receptor-2 ASGR2 433 ENSG00000161944 Asgr2 (MGI:88082)
chr17 7173430 7179563 17p13-p11 17p13.1 108360 ASGR1 Asialoglycoprotein receptor-1 ASGR1 432 ENSG00000141505 Asgr1 (MGI:88081)
chr17 7189889 7220049 17p13.1 17p13.1 602887 DLG4, PSD95, SAP90 Discs large, Drosophila, homolog of, 4 DLG4 1742 ENSG00000132535 Dlg4 (MGI:1277959)
chr17 7217124 7225266 17p13 17p13.1 609575 ACADVL, VLCAD Acyl-Coenzyme A dehydrogenase, very long chain ACADVL 37 ENSG00000072778 VLCAD deficiency, 201475 (3), Autosomal recessive Acadvl (MGI:895149)
chr17 7225340 7234543 17p13.1 17p13.1 602151 DVL2 Dishevelled 2 DVL2 1856 ENSG00000004975 Dvl2 (MGI:106613)
chr17 7235027 7239655 17p13 17p13.1 612910 PHF23 PHD finger protein 23 PHF23 79142 ENSG00000040633 Phf23 (MGI:1925496)
chr17 7240418 7242433 17p13.1 17p13.1 605125 GABARAP GABA-A receptor-associated protein GABARAP 11337 ENSG00000170296 Gabarap (MGI:1861742)
chr17 7243586 7251939 17p13.1 17p13.1 610684 CTDNEP1, DULLARD C-terminal domain nuclear envelope phosphatase 1 CTDNEP1 23399 ENSG00000175826 Ctdnep1 (MGI:1914431)
chr17 7251736 7259939 17p13.1 17p13.1 615019 ELP5, DERP6, C17orf81 Elongator acetyltransferase complex, subunit 5 ELP5 23587 ENSG00000170291 Elp5 (MGI:1859017)
chr17 7281734 7288047 17p13 17p13.1 138190 SLC2A4, GLUT4 Solute carrier family 2 (facilitated glucose transporter), member 4 SLC2A4 6517 ENSG00000181856 Slc2a4 (MGI:95758)
chr17 7288251 7294556 17p13.1 17p13.1 611447 YBX2, MSY2, CSDA3, DBPC Y box-binding protein 2 YBX2 51087 ENSG00000006047 Ybx2 (MGI:1096372)
chr17 7306998 7312462 17p13-p12 17p13.1 600187 EIF5A Eukaryotic translation initiation factor-5A EIF5A 1984 ENSG00000132507 Eif5a (MGI:106248)
chr17 7312658 7315338 17p13.1 17p13.1 601935 GPS2 G protein pathway suppressor 2 GPS2 2874 ENSG00000132522 Gps2 (MGI:1891751)
chr17 7315631 7329318 17p13.1 17p13.1 615865 NEURL4, KIAA1787 Neuralized E3 ubiquitin protein ligase 4 NEURL4 84461 ENSG00000215041 Neurl4 (MGI:1921092)
chr17 7351888 7354943 17p13.2 17p13.1 609848 KCTD11, REn Potassium channel tetramerization domain-containing protein 11 KCTD11 147040 ENSG00000213859 Kctd11 (MGI:2448712)
chr17 7336505 7354943 Chr.17 17p13.1 607763 CENTB1, KIAA0050, ACAP1 Centaurin, beta-1 ACAP1 9744 ENSG00000072818 Acap1 (MGI:2388270)
chr17 7354967 7357218 17p13.1 17p13.1 617814 TMEM95 Transmembrane protein 95 TMEM95 339168 ENSG00000182896 Tmem95 (MGI:3779488)
chr17 7380558 7389963 17p13.1 17p13.1 608076 TNK1 Tyrosine kinase, nonreceptor, 1 TNK1 8711 ENSG00000174292 Tnk1 (MGI:1930958)
chr17 7389726 7394842 17p13.1 17p13.1 607611 PLSCR3 Phospholipid scramblase 3 PLSCR3 57048 ENSG00000187838 Plscr3 (MGI:1917560)
chr17 7402973 7404137 17p13.1 17p13.1 617779 TMEM256, C17orf61 Transmembrane protein 256 TMEM256 254863 ENSG00000205544 Tmem256 (MGI:1916436)
chr17 7405491 7419863 Chr.17 17p13.1 606479 NLGN2, KIAA1366 Neuroligin 2 NLGN2 57555 ENSG00000169992 Nlgn2 (MGI:2681835)
chr17 7420359 7421631 17p13.1 17p13.1 615116 SPEM1, C17orf83 Spermatid maturation protein 1 SPEM1 374768 ENSG00000181323 Spem1 (MGI:1921538)
chr17 7435442 7437678 17p13.1 17p13.1 613936 TMEM102, CBAP Transmembrane protein 102 TMEM102 284114 ENSG00000181284 Tmem102 (MGI:1921591)
chr17 7438272 7444931 17q21 17p13.1 601514 FGF11, FHF3 Fibroblast growth factor-11 FGF11 2256 ENSG00000161958 Fgf11 (MGI:109167)
chr17 7445086 7457612 17p12-p11 17p13.1 100710 CHRNB1, ACHRB, SCCMS, CMS2A, CMS2C Cholinergic receptor, nicotinic, beta polypeptide-1, muscle CHRNB1 1140 ENSG00000170175 mutation identified in 1 CMS2C family Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3), Autosomal dominant; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3), Autosomal recessive Chrnb1 (MGI:87890)
chr17 7459365 7484248 17p13.1 17p13.1 612308 ZBTB4, KIAA1538 Zinc finger and BTB domain-containing 4 ZBTB4 57659 ENSG00000174282 Zbtb4 (MGI:1922830)
chr17 7484378 7514617 17p13.1 17p13.1 180660 POLR2A, RPOL2 Polymerase (RNA) II (DNA directed) polypeptide A, 220kD POLR2A 5430 Polr2a (MGI:98086)
chr17 7549057 7557889 17p13.3 17p13.1 602695 TNFSF12, TWEAK, APO3L, DR3LG Tumor necrosis factor ligand superfamily, member 12 TNFSF12 8742 ENSG00000239697 Tnfsf12 (MGI:1196259)
chr17 7558291 7561607 17p13.1 17p13.1 604472 TNFSF13, APRIL, TALL2 Tumor necrosis factor ligand superfamily, member 13 TNFSF13 8741 ENSG00000161955 Tnfsf13 (MGI:1916833)
chr17 7561991 7571968 17p13.1 17p13.1 612844 SENP3 Sentrin-specific protease family, member 3 SENP3 26168 ENSG00000161956 Senp3 (MGI:2158736)
chr17 7572705 7579005 17p13 17p13.1 602641 EIF4A1, DDX2A Eukaryotic translation initiation factor 4A, isoform 1 EIF4A1 1973 ENSG00000161960 Eif4a1 (MGI:95303)
chr17 7579486 7582110 17p13 17p13.1 153634 CD68 Macrophage antigen CD68 (macrosialin) CD68 968 ENSG00000129226 Cd68 (MGI:88342)
chr17 7583646 7588211 17p13.1-p12 17p13.1 604041 MPDU1, SL15, CDGIF Mannose-P-dolichol utilization defect 1 MPDU1 9526 ENSG00000129255 Congenital disorder of glycosylation, type If, 609180 (3), Autosomal recessive Mpdu1 (MGI:1346040)
chr17 7588179 7590169 17p13 17p13.1 601297 SOX15, SOX20 SRY (sex-determining region Y)-box 15 SOX15 6665 ENSG00000129194 Sox15 (MGI:98363)
chr17 7591229 7614896 17p13.1 17p13.1 605339 FXR2 Fragile X mental retardation, autosomal homolog-2 FXR2 9513 ENSG00000129245 Fxr2 (MGI:1346074)
chr17 7614063 7633382 17p13-p12 17p13.1 182205 SHBG, ABP Sex hormone-binding globulin (androgen binding protein) SHBG 6462 ENSG00000129214 Shbg (MGI:98295)
chr17 7626233 7627877 17p13.1 17p13.1 611463 SAT2, SSAT2 Spermidine/spermine N(1)-acetyltransferase 2 SAT2 112483 ENSG00000141504 Sat2 (MGI:1916465)
chr17 7646626 7657770 17p 17p13.1 182331 ATP1B2, AMOG ATPase, Na+K+ transporting, beta-2 polypeptide ATP1B2 482 ENSG00000129244 Atp1b2 (MGI:88109)
chr17 7668401 7687549 17p13.1 17p13.1 191170 TP53, P53, LFS1 , BCC7 Tumor protein p53 TP53 7157 ENSG00000141510 Adrenal cortical carcinoma, 202300 (3), Autosomal recessive; {Basal cell carcinoma 7}, 614740 (3); Breast cancer, 114480 (3), Autosomal dominant; Choroid plexus papilloma, 260500 (3), Autosomal dominant; Colorectal cancer, 114500 (3), Autosomal dominant; {Glioma susceptibility 1}, 137800 (3), Autosomal dominant, Somatic mutation; Hepatocellular carcinoma, 114550 (3), Somatic mutation; Li-Fraumeni syndrome, 151623 (3), Autosomal dominant; Nasopharyngeal carcinoma, 607107 (3); Osteosarcoma, 259500 (3), Autosomal recessive; Pancreatic cancer, 260350 (3), Autosomal dominant, Somatic mutation, Multifactorial Trp53 (MGI:98834)
chr17 7686070 7703501 17p13 17p13.1 612661 WRAP53, TCAB1, WDR79, DKCB3 WD repeat-containing protein antisense to TP53 WRAP53 55135 ENSG00000141499 Dyskeratosis congenita, autosomal recessive 3, 613988 (3), Autosomal recessive Wrap53 (MGI:2384933)
chr17 7705201 7711374 17p13.1-p11.2 17p13.1 602297 EFNB3, EPLG8, LERK8, EFL6 Ephrin B3 EFNB3 1949 ENSG00000108947 Efnb3 (MGI:109196)
chr17 7717353 7833743 17p13 17p13.1 603333 DNAH2, DNAHC2 Dynein, axonemal, heavy chain-2 DNAH2 146754 ENSG00000183914 Dnah2 (MGI:107731)
chr17 7834209 7854795 17p13.1 17p13.1 611577 KDM6B, JMJD3, KIAA0346 Lysine-specific demethylase 6B KDM6B 23135 ENSG00000132510 Kdm6b (MGI:2448492)
chr17 7854885 7856098 17p13.1 17p13.1 617813 TMEM88 Transmembrane protein 88 TMEM88 92162 ENSG00000167874 Tmem88 (MGI:1914270)
chr17 7884763 7912756 17p13 17p13.1 602120 CHD3 Chromodomain helicase DNA binding protein-3 CHD3 1107 ENSG00000170004 Chd3 (MGI:1344395)
chr17 7921858 7930345 17p13.1 17p13.1 604111 KCNAB3, KCNA3B Potassium voltage-gated channel, shaker-related subfamily, beta member 3 KCNAB3 9196 ENSG00000170049 Kcnab3 (MGI:1336208)
chr17 7930344 7931998 17p13 17p13.1 610969 TRAPPC1, MUM2, BET5 Trafficking protein particle complex, subunit 1 TRAPPC1 58485 ENSG00000170043 Trappc1 (MGI:1098727)
chr17 7932053 7949918 17p13.1 17p13.1 611425 CNTROB, LIP8 Centrosomal BRCA2-interacting protein CNTROB 116840 ENSG00000170037 Cntrob (MGI:2443290)
chr17 8002669 8020339 17p13.1 17p13.1 600179 GUCY2D, GUC2D, LCA1, CORD6, RCD2, CACD1 Guanylate cyclase 2D, membrane, retina-specific GUCY2D 3000 ENSG00000132518 mutation identified in 1 CACD1 family ?Central areolar choroidal dystrophy 1, 215500 (3), Autosomal recessive; Cone-rod dystrophy 6, 601777 (3), Autosomal recessive, Autosomal dominant; Leber congenital amaurosis 1, 204000 (3), Autosomal recessive Gucy2e (MGI:105123)
chr17 8039039 8049133 17p13.1 17p13.1 603697 ALOX15B Arachidonate 15-lipoxygenase, second type ALOX15B 247 ENSG00000179593 Alox8 (MGI:1098228)
chr17 8072635 8087702 17p13.1 17p13.1 603741 ALOX12B, ARCI2 Archidonate 12-lipoxygenase, R type ALOX12B 242 ENSG00000179477 Ichthyosis, congenital, autosomal recessive 2, 242100 (3), Autosomal recessive Alox12b (MGI:1274782)
chr17 8095899 8118915 17p13.1 17p13.1 607206 ALOXE3, ARCI3 Arachidonate lipoxygenase 3 ALOXE3 59344 ENSG00000179148 Ichthyosis, congenital, autosomal recessive 3, 606545 (3), Autosomal recessive Aloxe3 (MGI:1345140)
chr17 8119154 8119226 17p13.1 17p13.1 189918 TRNAK1, TRK1, TRK-TTT3-4 Transfer RNA lysine (TTT) 3-4 TRK-TTT3-5 7206
chr17 8119751 8119822 17p13.1 17p13.1 189919 TRNAQ1, TRQ1 tRNA glutamine-1 TRQ-CTG1-5 7228
chr17 8120313 8120394 17p13.1 17p13.1 189920 TRNAL2, TRL2 tRNA leucine-2 TRL-TAG1-1 7208
chr17 8120589 8126031 17p13.2 17p13.1 608059 HES7, SCDO4 Hairy/enhancer of split, Drosophila, homolog of, 7 HES7 84667 ENSG00000179111 Spondylocostal dysostosis 4, autosomal recessive, 613686 (3), Autosomal recessive Hes7 (MGI:2135679)
chr17 8120924 8121011 17p13.1 17p13.1 610406 TRNAR1, TRR1 tRNA arginine-1 TRR-TCT2-1 7230
chr17 8125745 8125815 17p13.1 17p13.1 610407 TRNAG2, TRG2 tRNA glycine-2 TRG-GCC2-6 7196 at least 8 copies in this region
chr17 8140469 8156359 17p12 17p13.1 602260 PER, RIGUI Period, Drosophila, homolog of PER1 5187 ENSG00000179094 Per1 (MGI:1098283)
chr17 8159146 8162974 17p12 17p13.1 185881 VAMP2, SYB2 Vesicle-associated membrane protein-2 (synaptobrevin-2) VAMP2 6844 ENSG00000220205 Vamp2 (MGI:1313277)
chr17 8172459 8176410 17p13.1 17p13.1 616183 TMEM107, MKS13, JBTS29 Transmembrane protein 107 TMEM107 84314 ENSG00000179029 mutation identified in 1 JBTS29 ?Joubert syndrome 29, 617562 (3), Autosomal recessive; Meckel syndrome 13, 617562 (3), Autosomal recessive; Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive Tmem107 (MGI:1914160)
chr17 8173452 8173587 17p13.1 17p13.1 616663 SNORD118, LCC Small nucleolar RNA, C/D box, 118 SNORD118 727676 Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive
chr17 8188332 8190245 17p13.1 17p13.1 616599 BORCS6, C17orf59, LYSPERSIN BLOC1-related complex, subunit 6 BORCS6 54785 ENSG00000196544 Borcs6 (MGI:1919173)
chr17 8204730 8210766 17p13.1 17p13.1 604970 STK12, ARK2, AIK2, AIM1 Serine/threonine protein kinase 12 AURKB 9212 ENSG00000178999 Aurkb (MGI:107168)
chr17 8224820 8248094 17p13.1 17p13.1 613129 CTC1, CRMCC, C17orf68, AAF132 Conserved telomere maintenance component 1 CTC1 80169 ENSG00000178971 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3), Autosomal recessive Ctc1 (MGI:1916214)
chr17 8247595 8270490 Chr.17 17p13.1 602133 PFAS, FGARAT phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) PFAS 5198 ENSG00000178921 Pfas (MGI:2684864)
chr17 8287762 8295688 17p13.1 17p13.1 610818 SLC25A35 Solute carrier family 25, member 35 SLC25A35 399512 ENSG00000125434 Slc25a35 (MGI:1919248)
chr17 8288496 8290091 17p13.1 17p13.1 607954 RANGRF, MOG1 RAN guanine nucleotide release factor RANGRF 29098 ENSG00000108961 Rangrf (MGI:1889073)
chr17 8310237 8322515 17p13.1 17p13.1 608504 ARGEF15, KIAA0915 Rho guanine nucleotide exchange factor 15 ARHGEF15 22899 ENSG00000198844 Arhgef15 (MGI:3045246)
chr17 8339839 8346047 17p13.1 17p13.1 610097 ODF4, OPPO1 Outer dense fiber of sperm tails 4 ODF4 146852 ENSG00000184650 Odf4 (MGI:2182079)
chr17 8377515 8383249 17p 17p13.1 603704 RPL26, DBA11 Ribosomal protein L26 RPL26 6154 ENSG00000161970 mutation identified in 1 family ?Diamond-Blackfan anemia 11, 614900 (3), Autosomal dominant Rpl26 (MGI:106022)
chr17 8435851 8472743 Chr.17 17p13.1 607538 NUDEL Nude-like protein (endooligopeptidase A) NDEL1 81565 ENSG00000166579 Ndel1 (MGI:1932915)
chr17 8474204 8631368 17p13 17p13.1 160776 MYH10 Myosin, heavy polypeptide-10, non-muscle MYH10 4628 ENSG00000133026 Myh10 (MGI:1930780)
chr17 8747531 8759427 17p13.1 17p13.1 617628 SPDYE4 SPEEDY/RINGO cell cycle regulator family, member E4 SPDYE4 388333 ENSG00000183318
chr17 8802722 8870002 17p13.1 17p13.1 611462 PIK3R6, C17orf38 Phosphatidylinositol 3-kinase, regulatory subunit 6 PIK3R6 146850 ENSG00000276231 Pik3r6 (MGI:2144613)
chr17 8878915 8965711 17p13.1 17p13.1 611317 PIK3R5, p101 Phosphatidylinositol 3-kinase, regulatory subunit 5 PIK3R5 23533 ENSG00000141506 Ataxia-oculomotor apraxia 3, 615217 (3), Autosomal recessive Pik3r5 (MGI:2443588)
chr17 9021541 9243999 17p13.1 17p13.1 601614 NTN1, NTN1L Netrin 1, mouse, homolog of NTN1 9423 ENSG00000065320 Ntn1 (MGI:105088)
chr17 9250470 9575957 17p12 17p13.1 604203 STX8 Syntaxin 8 STX8 9482 ENSG00000170310 Stx8 (MGI:1890156)
chr17 9576626 9643458 17p13.1 17p13.1 609804 WDR16, WDRPUH WD repeat-containing protein 16 CFAP52 146845 ENSG00000166596 Cfap52 (MGI:1919110)
chr17 9771433 9791296 17p13.1 17p13.1 616161 DHRS7C, SDR32C2 Short-chain dehydrogenase reductase family, member 7C DHRS7C 201140 ENSG00000184544 Dhrs7c (MGI:1915710)
chr17 9825507 9894162 17p13.3 17p13.1 603659 GLP2R Glucagon-like peptide 2 receptor GLP2R 9340 ENSG00000065325 Glp2r (MGI:2136733)
chr17 9897709 9905366 17p13.1 17p13.1 179618 RCV1 Recoverin RCVRN 5957 ENSG00000109047 Rcvrn (MGI:97883)
chr17 9910608 10198550 17p 17p13.1 603127 GAS7 Growth arrest-specific 7 GAS7 8522 ENSG00000007237 Gas7 (MGI:1202388)
chr17 10300865 10373004 17p13.1-p12 17p13.1 603487 MYH13 Myosin, heavy polypeptide 13, skeletal muscle MYH13 8735 ENSG00000006788 Myh13 (MGI:1339967)
chr17 10390324 10421949 17p13.1 17p13.1 160741 MYH8, DA7 Myosin, heavy polypeptide-8, skeletal muscle, perinatal MYH8 4626 ENSG00000133020 Carney complex variant, 608837 (3); Trismus-pseudocamptodactyly syndrome, 158300 (3), Autosomal dominant Myh8 (MGI:1339712)
chr17 10443057 10469558 17p13.1 17p13.1 160742 MYH4 Myosin, heavy polypeptide-4, skeletal muscle MYH4 4622 ENSG00000264424 Myh4 (MGI:1339713)
chr17 10492306 10518718 17p13.1 17p13.1 160730 MYH1 Myosin, heavy polypeptide-1, skeletal muscle, adult MYH1 4619 ENSG00000109061 cluster = 6 genes in 500kb Myh1 (MGI:1339711)
chr17 10521147 10549699 17p13.1 17p13.1 160740 MYH2, MYPOP Myosin, heavy polypeptide-2, skeletal muscle, adult MYH2 4620 ENSG00000125414 Proximal myopathy and ophthalmoplegia, 605637 (3), Autosomal recessive, Autosomal dominant Myh2 (MGI:1339710)
chr17 10628525 10678346 17p13.1 17p13.1 160720 MYH3, DA2A, DA2B, DA8 Myosin, heavy polypeptide-3, skeletal muscle, embryonic MYH3 4621 ENSG00000109063 Arthrogryposis, distal, type 2A, 193700 (3), Autosomal dominant; Arthrogryposis, distal, type 2B, 601680 (3), Autosomal dominant; Arthrogryposis, distal, type 8, 178110 (3), Autosomal dominant Myh3 (MGI:1339709)
chr17 10672473 10697567 17p13-p12 17p13.1 603644 SCO1, SCOD1 SCO1 cytochrome c oxidase assembly protein SCO1 6341 ENSG00000133028 Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial Sco1 (MGI:106362)
chr17 10800000 16100000 17p12 605572 AOMS2 Abdominal obesity-metabolic syndrome QTL2 65077 second QTL on 3q27 Abdominal obesity-metabolic syndrome, 605572 (2), Autosomal dominant
chr17 10800000 33500000 17p12-q11.2 613392 DFNB85 Deafness, autosomal recessive 85 DFNB85 100359399 between rs230884 and rs12603885 Deafness, autosomal recessive 85, 613392 (2), Autosomal recessive
chr17 10800000 42800000 17p12-q21.2 614928 ECTD6 Ectodermal dysplasia 6, hair/nail type 101101770 between D17S839 and D17S1299 Ectodermal dysplasia 6, hair/nail type, 614928 (2), Autosomal recessive
chr17 10800000 22700000 17p12-p11.2 616652 YUHAL Yuan-Harel-Lupski syndrome contiguous gene duplication syndrome Yuan-Harel-Lupski syndrome, 616652 (4), Autosomal dominant
chr17 10822474 10838100 17p13.1 17p12 612068 PIRT Phosphoinositide-interacting regulator of transient receptor potential channels PIRT 644139 ENSG00000233670 Pirt (MGI:2443635)
chr17 11241422 11564062 17p12 17p12 617327 SHISA6 Shisa family, member 6 SHISA6 388336 ENSG00000188803 Shisa6 (MGI:2685725)
chr17 11598430 11970167 17p12 17p12 603330 DNAH9, DNAH17L, DNEL1 Dynein, axonemal, heavy chain 9 DNAH9 1770 ENSG00000007174 Dnah9 (MGI:1289279)
chr17 11957432 12021521 17p13-p12 17p12 194524 ZNF18, KOX11 Zinc finger protein-18 (KOX11) ZNF18 7566 ENSG00000154957 Zkscan6 (MGI:1289293)
chr17 12020817 12143830 17p11.2 17p12 601335 SERK1, PRKMK4, MAPKK4, JNKK1 SAPK/ERK kinase-1 MAP2K4 6416 ENSG00000065559 Map2k4 (MGI:1346869)
chr17 12665889 12768948 17p11.2 17p12 606127 MYOCD Myocardin MYOCD 93649 ENSG00000141052 Myocd (MGI:2137495)
chr17 12789511 12991643 17p12 17p12 617716 ARHGAP44, RICH2, KIAA0672 RHO GTPase-activating protein 44 ARHGAP44 9912 ENSG00000006740 Arhgap44 (MGI:2144423)
chr17 12991611 13018063 17p11 17p12 605367 ELAC2, HPC2, COXPD17 elaC, E. coli, homolog 2 ELAC2 60528 ENSG00000006744 at ~365cR Combined oxidative phosphorylation deficiency 17, 615440 (3), Autosomal recessive; {Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3) Elac2 (MGI:1890496)
chr17 13494031 13601941 17p12-p11.2 17p12 604057 HS3ST3A1, 30ST3A1 Heparan sulfate D-glucosaminyl 3-0-sulfotransferase 3A1 HS3ST3A1 9955 ENSG00000153976 Hs3st3a1 (MGI:1333861)
chr17 14069401 14208678 17p12-p11.2 17p12 602125 COX10 Cytochrome c oxidase, subunit X COX10 1352 ENSG00000006695 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial Cox10 (MGI:1917633)
chr17 14301049 14349405 17p12-p11.2 17p12 604058 HS3ST3B1, 30ST3B1 Heparan sulfate D-glucosaminyl 3-0-sulfotransferase 3B1 HS3ST3B1 9953 ENSG00000125430 Hs3st3b1 (MGI:1333853)
chr17 15229776 15265372 17p11.2 17p12 601097 PMP22, CMT1A, CMT1E, DSS, CIDP Peripheral myelin protein-22 PMP22 5376 ENSG00000109099 mutation identified in 1 CIDP family Charcot-Marie-Tooth disease, type 1A, 118220 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1E, 118300 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; ?Neuropathy, inflammatory demyelinating, 139393 (3), ?Autosomal dominant; Neuropathy, recurrent, with pressure palsies, 162500 (3), Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant Pmp22 (MGI:97631)
chr17 15303810 15343681 17p12 17p12 612683 TEKT3 Tektin 3 TEKT3 64518 ENSG00000125409 Tekt3 (MGI:1918312)
chr17 15627965 15684310 17p11.2 17p12 609505 TRIM16, EBBP Tripartite motif-containing protein 16 TRIM16 10626 ENSG00000221926 Trim16 (MGI:2137356)
chr17 15675475 15675642 17p13-p12 17p12 194535 ZNF29 Zinc finger protein-29 (KOX26) ZNF29P 7577 proximal to TP53
chr17 15927781 15975895 17p12-p11.2 17p12 600446 ADORA2B Adenosine A2b receptor ADORA2B 136 ENSG00000170425 incorrectly put on 10 Adora2b (MGI:99403)
chr17 15976559 15999691 17p12 17p12 614535 ZSWIM7, SWS1 Zinc finger SWIM domain-containing protein 7 ZSWIM7 125150 ENSG00000214941 Zswim7 (MGI:1916997)
chr17 15999379 16045427 17p12 17p12 613814 TTC19, MC3DN2 Tetratricopeptide repeat domain 19 TTC19 54902 ENSG00000011295 Mitochondrial complex III deficiency, nuclear type 2, 615157 (3), Autosomal recessive Ttc19 (MGI:1920045)
chr17 16030093 16216474 11p11.2 17p12-p11 600849 NCOR1 Nuclear receptor corepressor 1 NCOR1 9611 ENSG00000141027 Ncor1 (MGI:1349717)
chr17 16100000 25100000 17p11 608904 ADHD2 Attention deficit-hyperactivity disorder, susceptibility to, 2 450088 {Attention deficit-hyperactivity disorder}, 143465 (2), Autosomal dominant
chr17 16100000 22700000 17p11.2 607354 IS2, AIS2 Scoliosis, idiopathic 2 282552 between D17S947 and D17S798 Scoliosis, idiopathic 2, 607354 (2)
chr17 16100000 22700000 17p11.2 610883 PTLS Potocki-Lupski syndrome contiguous gene syndrome Potocki-Lupski syndrome, 610883 (4), Isolated cases
chr17 16100000 22700000 17p11.2-p11.2 604547 VWSM Van der Woude syndrome modifier 100917
chr17 16217194 16351799 17p12-p11.2 17p11.2 605947 PIGL, CHIME Phosphatidylinositol glycan, class L PIGL 9487 ENSG00000108474 CHIME syndrome, 280000 (3), Autosomal recessive Pigl (MGI:2681271)
chr17 16342533 16353497 17p11.2 17p11.2 608139 CENPV, P30 Centromere protein V CENPV 201161 ENSG00000166582 Cenpv (MGI:1920389)
chr17 16380792 16382744 17p12-p11.1 17p11.2 191339 UBB Ubiquitin B UBB 7314 ENSG00000170315 Cleft palate, isolated, 119540 (2), Autosomal dominant
chr17 16415541 16437002 Chr.17 17p11.2 606676 TRPV2, VRL1 Transient receptor potential cation channel, subfamily V, member 2 TRPV2 51393 ENSG00000187688 Trpv2 (MGI:1341836)
chr17 16939083 16972087 17p11.2 17p11.2 604907 TNFRSF13B, TACI, CVID2 Tumor necrosis factor receptor superfamily, member 13B TNFRSF13B 23495 ENSG00000240505 Immunodeficiency, common variable, 2, 240500 (3), Autosomal recessive, Autosomal dominant; Immunoglobulin A deficiency 2, 609529 (3) Tnfrsf13b (MGI:1889411)
chr17 17042437 17192647 17p11.2 17p11.2 612935 MPRIP, MRIP, KIAA0864, RIP3, P116RIP Myosin phosphatase Rho-interacting protein MPRIP 23164 ENSG00000133030 Mprip (MGI:1349438)
chr17 17200989 17206904 17p11.2 17p11.2 614960 PLD6, ZUC Phospholipase D family, member 6 PLD6 201164 ENSG00000179598
chr17 17206945 17237190 17p11.2 17p11.2 607273 FLCN, BHD Folliculin FLCN 201163 ENSG00000154803 Birt-Hogg-Dube syndrome, 135150 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Pneumothorax, primary spontaneous, 173600 (3), Autosomal dominant; Renal carcinoma, chromophobe, somatic, 144700 (3) Flcn (MGI:2442184)
chr17 17246623 17281302 17p11.2 17p11.2 604665 COPS3, SGN3 COP9 signalosome, subunit 3 COPS3 8533 ENSG00000141030 Cops3 (MGI:1349409)
chr17 17303365 17347662 17p11.2 17p11.2 605292 NT5M, DNT2 Deoxyribonucleotidase, mitochondrial (5' nucleotidase, mitochondrial) NT5M 56953 ENSG00000205309 Nt5m (MGI:1917127)
chr17 17476985 17493219 17p11.2 17p11.2 609878 MED9, MED25, FLJ10193 Mediator of RNA polymerase II transcription, subunit 9, S. cerevisiae, homolog of MED9 55090 ENSG00000141026 Med9 (MGI:2183151)
chr17 17494436 17496394 17p11.2 17p11.2 605550 RASD1, DEXRAS1 Ras protein, dexamethasone-induced, 1 RASD1 51655 ENSG00000108551 Rasd1 (MGI:1270848)
chr17 17505560 17591986 17p11.2 17p11.2 602391 PEMT, PEMPT Phosphatidylethanolamine N-methyltransferase PEMT 10400 ENSG00000133027 Pemt (MGI:104535)
chr17 17681375 17811452 17p11.2 17p11.2 607642 RAI1, SMCR, SMS Retinoic acid-induced gene 1 RAI1 10743 ENSG00000108557 Smith-Magenis syndrome, 182290 (3), Autosomal dominant, Isolated cases Rai1 (MGI:103291)
chr17 17811348 17837016 17p11.2 17p11.2 184756 SREBF1 Sterol regulatory element binding transcription factor 1 SREBF1 6720 ENSG00000072310 Srebf1 (MGI:107606)
chr17 17813835 17813930 17p11.2 17p11.2 613486 MIR33B, MIRN33B Micro RNA 33B MIR33B 693120
chr17 17843507 17972469 17p11.2 17p11.2 615519 TOM1L2 TOM1-like 2 TOM1L2 146691 ENSG00000175662 Tom1l2 (MGI:2443306)
chr17 18015058 18039167 17p11.2 17p11.2 608918 ATPAF2, ATP12, MC5DN1 ATP synthase, mitochondrial F1 complex, assembly factor 2 ATPAF2 91647 ENSG00000171953 mutation identified in 1 MC5DN1 patient ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3), Autosomal recessive Atpaf2 (MGI:2180561)
chr17 18039296 18068404 17p11.2 17p11.2 617699 GID4, VID2, C17orf39 GID complex, subunit 4 GID4 79018 ENSG00000141034 Gid4 (MGI:1914021)
chr17 18087866 18107984 17p11.2 17p11.2 602986 DRG2 Developmentally regulated GTP-binding protein 2 DRG2 1819 ENSG00000108591 Drg2 (MGI:1342307)
chr17 18108705 18180243 17p11.2 17p11.2 602666 MYO15A, DFNB3 Myosin XVA MYO15A 51168 ENSG00000091536 Deafness, autosomal recessive 3, 600316 (3), Autosomal recessive Myo15 (MGI:1261811)
chr17 18183552 18209953 17p11.2 17p11.2 613303 ALKBH5, ABH5 AlkB, E. coli, homolog of, 5 ALKBH5 54890 ENSG00000091542 Alkbh5 (MGI:2144489)
chr17 18225592 18244874 17p12-p11.2 17p11.2 600966 LLGL1, DLG4 Lethal giant larvae, Drosophila, homolog of, 1 LLGL1 3996 ENSG00000131899 Llgl1 (MGI:102682)
chr17 18244814 18258915 17p11.2 17p11.2 600362 FLII Flightless-I, Drosophila, homolog of FLII 2314 ENSG00000177731 Flii (MGI:1342286)
chr17 18260533 18265789 17p11.2 17p11.2 615498 MEIF2, SMCR7, MID49 Mitochondrial elongation factor 2 MIEF2 125170 ENSG00000177427 Mief2 (MGI:2144199)
chr17 18269957 18315091 17p12-p11.2 17p11.2 601243 TOP3A Topoisomerase (DNA) III, alpha TOP3A 7156 ENSG00000177302 Top3a (MGI:1197527)
chr17 18315279 18328055 17p11.2 17p11.2 617074 SMCR8 Smith-Magenis syndrome chromosome region, candidate gene 8 SMCR8 140775 ENSG00000176994 Smcr8 (MGI:2444720)
chr17 18327859 18363562 17p11.2 17p11.2 182144 SHMT1 Serine hydroxymethyltransferase (soluble) SHMT1 6470 ENSG00000176974 ?role in Smith-Magenis syndrome Shmt1 (MGI:98299)
chr17 18497089 18503284 17p13.1-q25 17p11.2 600719 NOS2B Nitric oxide synthase 2B NOS2P2 201288
chr17 18744012 18779348 17p12 17p11.2 611679 FBXW10 F-box and WD40 domain protein 10 FBXW10 10517 ENSG00000171931 Fbxw10 (MGI:3052463)
chr17 18856298 18931286 17p12-p11.2 17p11.2 603762 PRPSAP2, PAP41 Phosphoribosylpyrophosphate synthetase-associated protein 2 PRPSAP2 5636 ENSG00000141127 Prpsap2 (MGI:2384838)
chr17 19188015 19188231 17p11.2 17p11.2 180710 RNU3 RNA, U3 small nuclear SNORD3A 780851 deleted in Smith-Magenis syndrome
chr17 19335371 19378192 17p11.2 17p11.2 614144 B9D1, MKSR1, MKS9, JBTS27 B9 domain-containing protein 1 B9D1 27077 ENSG00000108641 mutation identified in 1 MKS9 patient Joubert syndrome 27, 617120 (3), Autosomal recessive; ?Meckel syndrome 9, 614209 (3), Autosomal recessive B9d1 (MGI:1351471)
chr17 19237376 19336714 Chr.17 17p11.2 607263 EPN2, KIAA1065 Epsin 2 EPN2 22905 ENSG00000072134 Epn2 (MGI:1333766)
chr17 19377720 19383543 17p11.2 17p11.2 602521 MAPK7, PRKM7, ERK5 Mitogen-activated protein kinase 7 (extracellular signal-regulated kinase 5) MAPK7 5598 ENSG00000166484 Mapk7 (MGI:1346347)
chr17 19383441 19387218 17p11.2 17p11.2 600596 MFAP4 Microfibrillar-associated protein-4 MFAP4 4239 ENSG00000166482 Mfap4 (MGI:1342276)
chr17 19406978 19417275 17p11.2 17p11.2 601237 RNF112, ZNF179, BFP RING finger protein 112 RNF112 7732 ENSG00000128482 Rnf112 (MGI:106611)
chr17 19533853 19579032 17p11.2 17p11.2 609832 SLC47A1, MATE1, FLJ10847 Solute carrier family 47, member 1 SLC47A1 55244 ENSG00000142494 Slc47a1 (MGI:1914723)
chr17 19648145 19677595 17p11.2 17p11.2 609523 ALDH3A2, ALDH10, SLS, FALDH Aldehyde dehydrogenase 3 family, member A2 (fatty aldehyde dehydrogenase) ALDH3A2 224 ENSG00000072210 Sjogren-Larsson syndrome, 270200 (3), Autosomal recessive Aldh3a2 (MGI:1353452)
chr17 19678312 19719597 17p11.2 17p11.2 609833 SLC47A2, MATE2, FLJ31196, MATE2K Solute carrier family 47, member 2 SLC47A2 146802 ENSG00000180638
chr17 19737983 19748432 17p11.2 17p11.2 100660 ALDH3A1, ALDH3 Aldehyde dehydrogenase 3 family, member A1 ALDH3A1 218 ENSG00000108602 Aldh3a1 (MGI:1353451)
chr17 19770827 19867925 17p11.2 17p11.2 608650 ULK2, KIAA0623, UNC51.2 UNC51-like kinase 2 ULK2 9706 ENSG00000083290 Ulk2 (MGI:1352758)
chr17 19904301 19977855 17p11.1 17p11.2 604694 AKAP10 A-kinase anchor protein 10 AKAP10 11216 ENSG00000108599 {Cardiac conduction defect, susceptibility to}, 115080 (3), Autosomal dominant Akap10 (MGI:1890218)
chr17 20009300 20319025 17p11.2 17p11.2 608793 SPECC1, HCMOGT1, NSP Sperm antigen with calponin homology and coiled-coil domains 1 SPECC1 92521 ENSG00000128487 Specc1 (MGI:2442356)
chr17 20999592 21043408 17p11.2 17p11.2 612116 USP22, KIAA1064 Ubiquitin-specific protease 22 USP22 23326 ENSG00000124422 Usp22 (MGI:2144157)
chr17 21123367 21192029 17p11.2 17p11.2 616160 DHRS7B, SDR32C1 Short-chain dehydrogenase reductase family, member 7B DHRS7B 25979 ENSG00000109016 Dhrs7b (MGI:2384931)
chr17 21284655 21315239 17q11.2 17p11.2 602315 PRKMK3, MAPKK3, MEK3 Protein kinase, mitogen-activated, kinase-3 MAP2K3 5606 ENSG00000034152 Map2k3 (MGI:1346868)
chr17 21376386 21419869 17p11.2-p11.1 17p11.2 602323 KCNJ12, KCNJN1 Potassium inwardly-rectifying channel, subfamily J, member 12 KCNJ12 3768 ENSG00000184185 Kcnj12 (MGI:108495)
chr17 21692522 21705699 17p11.2 17p11.2 613236 KCNJ18, KIR2.6, TTPP2 Potassium channel, inwardly rectifying, subfamily J, member 18 KCNJ18 100134444 ENSG00000260458 {Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3), Isolated cases
chr17 22406018 22413740 17p11.2 17p11.2 605160 PRG4, FLJ36000 p53-responsive gene 4 284124
chr17 22523110 22524664 17p11.2 17p11.2 616985 MTRNR2L1, HN1 MTRNR2-like 1 MTRNR2L1 100462977 ENSG00000256618
chr17 25100000 33500000 17q11 609378 AUTS6 Autism, susceptibility to, 6 554314 max lod at D17S1800 {Autism susceptibility 6}, 609378 (2)
chr17 25100000 33500000 17q11 606601 ERVE1, HERVE1 Endogenous retroviral sequence E, 1 ERVE-1 85314
chr17 25100000 83257441 17q 603918 HYT1 Hypertension, essential, susceptibility to, 1 117191 ~18cM distal to ACE {Hypertension, essential, susceptibility to, 1}, 145500 (2), Multifactorial
chr17 27294020 27313630 17q11.1 17q11.1 610091 WSB1, SWIP1 WD repeat- and SOCS box-containing protein 1 WSB1 26118 ENSG00000109046 Wsb1 (MGI:1926139)
chr17 27400000 33500000 17q11.2 601395 CCL3L1, SCYA3L1, LD78 Chemokine, C-C motif, ligand 3-like 1 CCL3L1 6349 ENSG00000276085 varies in copy number 1-10 {HIV/AIDS, susceptibility to}, 609423 (3)
chr17 27400000 33500000 17q11.2 613675 DEL17q11.2, C17DELq11.2 Chromosome 17q11.2 deletion syndrome, 1.4Mb (NF1 microdeletion syndrome) Chromosome 17q11.2 deletion syndrome, 1.4Mb, 613675 (4), Autosomal dominant
chr17 27400000 72900000 17q11.2-q24 154275 MHS2 Malignant hyperthermia susceptibility 2 MHS2 4264 ?due to mutation in SCN4A {Malignant hyperthermia susceptibility 2}, 154275 (2), Autosomal dominant
chr17 27400000 33500000 17q11.2 612575 MPVQTL3 Mean platelet volume quantitative trait locus 3 100271869 associated with rs2138852 [Mean platelet volume QTL3], 612575 (2)
chr17 27456440 27626437 17q11.2 17q11.2 601132 KSR, KSR1 Kinase suppressor of RAS KSR1 8844 ENSG00000141068 Ksr1 (MGI:105051)
chr17 27631147 27649559 17q11.2 17q11.2 601879 LGALS9 Lectin, galactoside-binding, soluble, 9 LGALS9 3965 ENSG00000168961
chr17 27651442 27664654 17p13.1-q25 17q11.2 600720 NOS2C Nitric oxide synthase 2C NOS2P1 645740
chr17 27756765 27800528 17cen-q11.2 17q11.2 163730 NOS2A, NOS2 Nitric oxide synthase 2A, inducible, hepatocytes NOS2 4843 ENSG00000007171 ?cluster of 3 NOS2 genes {Hypertension, susceptibility to}, 145500 (2), Multifactorial; {Malaria, resistance to}, 611162 (3) Nos2 (MGI:97361)
chr17 28226562 28228059 17q11 17q11.2 606637 PYY2 Peptide YY, 2 PYY2 23615
chr17 28247443 28248288 17q11 17q11.2 606638 PPY2 Pancreatic polypeptide 2 PPY2P 23614
chr17 28319040 28328684 17q11.2 17q11.2 612912 TMEM97, MAC30 Transmembrane protein 97 TMEM97 27346 ENSG00000109084 Tmem97 (MGI:1916321)
chr17 28328324 28335488 17p11.1 17q11.2 614394 IFT20 Intraflagellar transport 20, chlamydomonas, homolog of IFT20 90410 ENSG00000109083 Ift20 (MGI:1915585)
chr17 28335521 28347008 17q22-q23 17q11.2 191161 TNFAIP1 Tumor necrosis factor, alpha-induced protein-1 (endothelial) TNFAIP1 7126 ENSG00000109079 Tnfaip1 (MGI:104961)
chr17 28346627 28357588 17q11.2 17q11.2 611519 POLDIP2, PDIP38 Polymerase delta-interacting protein 2 POLDIP2 26073 ENSG00000004142 Poldip2 (MGI:1915061)
chr17 28357580 28363682 17q11.2 17q11.2 616815 TMEM199, VMA12, VPH2, C17orf32, CDG2P Transmembrane protein 199 TMEM199 147007 ENSG00000244045 Congenital disorder of glycosylation, type IIp, 616829 (3), Autosomal recessive Tmem199 (MGI:2144113)
chr17 28364267 28365150 17q11.2 17q11.2 610975 SEBOX, OG9 Skin-, embryo-, brain-, and oocyte-specific homeobox SEBOX 645832 ENSG00000274529 Sebox (MGI:108012)
chr17 28367276 28370351 17q11 17q11.2 193190 VTN, VNT Vitronectin (serum spreading factor, somatomedin B, complement S-protein) VTN 7448 ENSG00000109072 Vtn (MGI:98940)
chr17 28371661 28401044 17q11 17q11.2 607732 SARM, KIAA0524 Sterile alpha and heat/armadillo motifs-containing protein SARM1 23098 ENSG00000004139 Sarm1 (MGI:2136419)
chr17 28394641 28406629 17q11.1 17q11.2 611672 SLC46A1, HCP1, PCFT Solute carrier family 46 (folate transporter), member 1 SLC46A1 113235 ENSG00000076351 Folate malabsorption, hereditary, 229050 (3), Autosomal recessive Slc46a1 (MGI:1098733)
chr17 28473356 28497780 17p11.1-q11.1 17q11.2 604148 SLC13A2, NADC1 Solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 SLC13A2 9058 ENSG00000007216 Slc13a2 (MGI:1276558)
chr17 28506210 28538899 17q11-q12 17q11.2 600838 FOXN1, WHN Forkhead box N1 (winged helix nude) FOXN1 8456 ENSG00000109101 T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3), Autosomal recessive Foxn1 (MGI:102949)
chr17 28546706 28552662 17q11.2 17q11.2 604011 UNC119, HRG4, IMD13 Unc119, C. elegans, homolog of (human retinal gene 4) UNC119 9094 ENSG00000109103 mutation identified in 1 IMD13 family and CORD family ?Cone-rod dystrophy (3); ?Immunodeficiency 13, 615518 (3), Autosomal dominant Unc119 (MGI:1328357)
chr17 28553387 28571868 17q11.2 17q11.2 610271 PIGS Phosphatidylinositol glycan, class S PIGS 94005 ENSG00000087111 Pigs (MGI:2687325)
chr17 28573114 28576962 17cen-q12 17q11.2 103870 ALDOC Aldolase C, fructose-bisphosphatase ALDOC 230 ENSG00000109107 Aldoc (MGI:101863)
chr17 28577564 28599037 17q11.2 17q11.2 615562 SPAG5, MAP126, ASTRIN Sperm-associated antigen 5 SPAG5 10615 ENSG00000076382 Spag5 (MGI:1927470)
chr17 28648355 28662188 17q11.2 17q11.2 602934 SDF2 Stromal cell-derived factor-2 SDF2 6388 ENSG00000132581 Sdf2 (MGI:108019)
chr17 28662182 28702683 17q11.2 17q11.2 601333 SUPT6H Suppressor of Ty, S.cerevisiae, 6 homolog of SUPT6H 6830 ENSG00000109111 Supt6 (MGI:107726)
chr17 28703196 28712064 17q11.2 17q11.2 617376 PROCA1 Proline-rich cyclin A1-interacting protein PROCA1 147011 ENSG00000167525 Proca1 (MGI:1918274)
chr17 28714280 28718439 17q11.1 17q11.2 610917 RAB34, RAH Ras-associated protein 34 RAB34 83871 ENSG00000109113 Rab34 (MGI:104606)
chr17 28719981 28724355 17q11 17q11.2 602326 RPL23A Ribosomal protein L23a RPL23A 6147 ENSG00000198242
chr17 28727898 28742765 17q11.1 17q11.2 609799 NEK8, JCK, NPHP9, RHPD2 Never in mitosis gene A-related kinase 8 NEK8 284086 ENSG00000160602 mutations identified in 1 family with NPHP9 ?Nephronophthisis 9, 613824 (3); Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive Nek8 (MGI:1890646)
chr17 28744003 28750957 17q11.2 17q11.2 602464 TRAF4, MLN62, CART1 TNF receptor-associated factor 4 TRAF4 9618 ENSG00000076604 Traf4 (MGI:1202880)
chr17 28854956 28861066 17q11.2 17q11.2 607435 ERAL1, ERAL1A, ERAL1B, PRLTS6 ERA G-protein-like 1 ERAL1 26284 ENSG00000132591 Perrault syndrome 6, 617565 (3), Autosomal recessive Eral1 (MGI:1889295)
chr17 28861368 28861439 17q11.2 17q11.2 612071 MIR451, MIRN451 Micro RNA 451 MIR451A 574411
chr17 28861532 28861617 17q11.2 17q11.2 612070 MIR144, MIRN144 Micro RNA 144 MIR144 406936
chr17 28879334 28897735 17q11-q12 17q11.2 131560 FLOT2, M17S1, ECS1, ESA1 Flotillin 2 (epidermal surface antigen 1) FLOT2 2319 ENSG00000132589 ~180kb centromeric to NF1 Flot2 (MGI:103309)
chr17 28897780 28903070 17q11.2 17q11.2 616157 DHRS13, SDR7C5 Short-chain dehydrogenase reductase family, member 13 DHRS13 147015 ENSG00000167536 Dhrs13 (MGI:1917701)
chr17 28954904 29006439 17q11.2 17q11.2 616666 SEZ6, BSRPC Seizure-related 6, mouse, homolog of SEZ6 124925 ENSG00000063015 Sez6 (MGI:104745)
chr17 29073509 29180388 17q11.2 17q11.2 610067 MYO18A, SPR210 Myosin XVIIIA MYO18A 399687 ENSG00000196535 Myo18a (MGI:2667185)
chr17 29073520 29075608 17q11.2 17q11.2 609517 TIAF1, MYO18A, MYSPDZ, MAJN, SPR210, KIAA0216 TGFB1-induced antiapoptotic factor 1 TIAF1 9220 ENSG00000221995
chr17 29246856 29254493 17q11.1-q12 17q11.2 123610 CRYBA1, CRYB1, CTRCT10 Crystallin, beta A1 CRYBA1 1411 ENSG00000108255 centromeric to NF1 Cataract 10, multiple types, 600881 (3), Autosomal dominant Cryba1 (MGI:88518)
chr17 29255835 29294147 17q11.2 17q11.2 609356 NUFIP2, KIAA1321, PIG1 Nuclear fragile X mental retardation protein-interacting protein 2 NUFIP2 57532 ENSG00000108256 Nufip2 (MGI:1915814)
chr17 29390924 29551903 17q11.2 17q11.2 610266 TAOK1, PSK2, TAO1, MARKK TAO kinase 1 TAOK1 57551 ENSG00000160551 Taok1 (MGI:1914490)
chr17 29573468 29589591 17p11.2 17q11.2 608434 GIT1 G protein-coupled receptor kinase-interacting protein 1 GIT1 28964 ENSG00000108262 Git1 (MGI:1927140)
chr17 29589768 29615005 17q11.2 17q11.2 615124 ANKRD13B Ankyrin repeat domain-containing protein 13B ANKRD13B 124930 ENSG00000198720 Ankrd13b (MGI:2144501)
chr17 29625937 29930238 17q11.2 17q11.2 606779 SSH2, KIAA1725 Slingshot, Drosophila, homolog of, 2 SSH2 85464 ENSG00000141298 Ssh2 (MGI:2679255)
chr17 30116806 30186474 17q11.2 17q11.2 616173 NSRP1, NSRP70, CCDC55 Nuclear speckle splicing regulatory protein 1 NSRP1 84081 ENSG00000126653 Nsrp1 (MGI:2144305)
chr17 30194318 30235967 17q11.1-q12 17q11.2 182138 SLC6A4, HTT, OCD1 Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 SLC6A4 6532 ENSG00000108576 {Anxiety-related personality traits}, 607834 (3); {Obsessive-compulsive disorder}, 164230 (3), Autosomal dominant Slc6a4 (MGI:96285)
chr17 30248194 30292165 17q11.2 17q11.2 602403 BLMH, BMH Bleomycin hydrolase BLMH 642 ENSG00000108578 Blmh (MGI:1345186)
chr17 30378923 30469656 17p11.1-q11.1 17q11.2 603102 CPD Carboxypeptidase D CPD 1362 ENSG00000108582 Cpd (MGI:107265)
chr17 30477401 30526813 17q11 17q11.2 604026 GOSR1, GOS28, GS28 Golgi snap receptor complex member 1 GOSR1 9527 ENSG00000108587 Gosr1 (MGI:1858260)
chr17 30782683 30824759 17q11.2 17q11.2 614853 CRLF3, CYTOR4, CRLM9, CREME9 Cytokine receptor-like factor 3 CRLF3 51379 ENSG00000176390 Crlf3 (MGI:1860086)
chr17 30830829 30895868 17q11.2 17q11.2 609534 ATAD5, C17orf41, FRAG1, FLJ12735 ATPase family, AAA domain containing 5 ATAD5 79915 ENSG00000176208 Atad5 (MGI:2442925)
chr17 30898982 30907628 17q11.2 17q11.2 616422 TEFM, C17orf42 Transcription elongation factor, mitochondrial TEFM 79736 ENSG00000172171 Tefm (MGI:1915800)
chr17 30921735 30959397 17q11.2 17q11.2 608635 ADAP2, CENTA2 ArfGAP with dual PH domains 2 ADAP2 55803 ENSG00000184060 Adap2 (MGI:2663075)
chr17 30968641 30999910 17q11 17q11.2 611358 RNF135, MMFD Ring finger protein 135 RNF135 84282 ENSG00000181481 Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 (3) Rnf135 (MGI:1919206)
chr17 31094926 31377676 17q11.2 17q11.2 613113 NF1, VRNF, WSS, NFNS Neurofibromin (neurofibromatosis, type I) NF1 4763 ENSG00000196712 Leukemia, juvenile myelomonocytic, 607785 (3), Autosomal dominant, Somatic mutation; Neurofibromatosis, familial spinal, 162210 (3), Autosomal dominant; Neurofibromatosis, type 1, 162200 (3), Autosomal dominant; Neurofibromatosis-Noonan syndrome, 601321 (3), Autosomal dominant; Watson syndrome, 193520 (3), Autosomal dominant Nf1 (MGI:97306)
chr17 31294649 31297361 17q11.2 17q11.2 164345 OMG, OMGP Oligodendrocyte-myelin glycoprotein OMG 4974 ENSG00000126861 within the NF1 gene Omg (MGI:106586)
chr17 31303769 31314148 17q11.2 17q11.2 158381 EVI2B, EVDB Ecotropic viral integration site 2B EVI2B 2124 ENSG00000185862 within the NF1 gene Evi2,Evi2b (MGI:5439444,MGI:1890682)
chr17 31316409 31321748 17q11.2 17q11.2 158380 EVI2A, EVI2, EVDA Ecotropic viral integration site 2A EVI2A 2123 ENSG00000126860 within the NF1 gene Evi2a (MGI:95458)
chr17 31391623 31538216 17q11.2 17q11.2 611999 RAB11FIP4, KIAA1821 RAB11 family-interacting protein 4 RAB11FIP4 84440 ENSG00000131242 Rab11fip4 (MGI:2442920)
chr17 31559995 31560082 17q11.2 17q11.2 614733 MIR193A Micro RNA 193A MIR193A 406968
chr17 31937009 32001044 17q11.2 17q11.2 606245 JJAZ1, KIAA0160 JJAZ1 gene SUZ12 23512 ENSG00000178691 Suz12 (MGI:1261758)
chr17 32007871 32053499 17q11.2 17q11.2 616558 LRRC37B Leucine-rich repeat-containing protein 37B LRRC37B 114659 ENSG00000185158
chr17 32142453 32253373 17q11.2 17q11.2 613888 RHOT1, MIRO1, ARHT1 Ras homolog gene family, member T1 RHOT1 55288 ENSG00000126858 Rhot1 (MGI:1926078)
chr17 32350137 32381884 17q11.2 17q11.2 603428 ZNF207 Zinc finger protein-207 ZNF207 7756 ENSG00000010244 mapped by FISH to 6p21.3 Zfp207 (MGI:1340045)
chr17 32444462 32483318 17q11.2 17q11.2 604449 PSMD11, S9 Proteasome 26S subunit, non-ATPase, 11 PSMD11 5717 ENSG00000108671 Psmd11 (MGI:1916327)
chr17 32485027 32491255 17q11.2 17q11.2 603460 CDK5R1, p35 Cyclin-dependent kinase 5, regulatory subunit 1 CDK5R1 8851 ENSG00000176749 Cdk5r1 (MGI:101764)
chr17 32492521 32877172 17q11-q12 17q11.2 606539 MYO1D, KIAA0727 Myosin ID MYO1D 4642 ENSG00000176658 Myo1d (MGI:107728)
chr17 32927909 32941648 17q11.2 17q11.2 615949 TMEM98, NNO4 Transmembrane protein 98 TMEM98 26022 ENSG00000006042 Nanophthalmos 4, 615972 (3), Autosomal dominant Tmem98 (MGI:1923457)
chr17 32991863 32997876 17q12 17q11.2 612749 SPACA3, LYZL3, SLLP1, LYC3, ALLP17 Sperm acrosome-associated 3 SPACA3 124912 ENSG00000141316 Spaca3 (MGI:1922872)
chr17 33013086 34156805 17q11.2-q12 17q11-q12 601784 ACCN1, BNC1, MDEG Amiloride-sensitive cation channel 1, neuronal (degenerin) ASIC2 40 ENSG00000108684 Asic2 (MGI:1100867)
chr17 33500000 39800000 17q12 603782 CCL4L, SCYA4L, LAG1 Chemokine, C-C motif, ligand 4-like CCL4L1 388372 ENSG00000276070
chr17 33500000 39800000 17q12 614527 DEL17q12, C17DELq12 Chromosome 17q12 deletion syndrome Chromosome 17q12 deletion syndrome, 614527 (4), Autosomal dominant
chr17 33500000 39800000 17q12 614526 DUP17q12, C17DUPq12 Chromosome 17q12 duplication syndrome Chromosome 17q12 duplication syndrome, 614526 (4), Autosomal dominant
chr17 33500000 39800000 17q12 611955 HPC11 Prostate cancer, hereditary, 11 associated with rs4430796 and rs7501939 {Prostate cancer, hereditary, 11}, 611955 (2)
chr17 33500000 39800000 17q12 614221 PBC5 Biliary cirrhosis, primary, 5 100689212 associated with rs9303277 Biliary cirrhosis, primary, 5, 614221 (2)
chr17 33500000 52100000 17q12-q21 601363 WT4 Wilms tumor-4 8151 Wilms tumor, type 4, 601363 (2), Autosomal dominant
chr17 34255276 34257202 17q11.2-q12 17q12 158105 CCL2, SCYA2, MCP1, MCAF Small inducible cytokine A2 (monocyte chemotactic protein, homologous to mouse Sig-je) CCL2 6347 ENSG00000108691 {Coronary artery disease, modifier of} (3); {HIV-1, resistance to}, 609423 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3); {Spina bifida, susceptibility to}, 182940 (3), Autosomal dominant Ccl12 (MGI:108224)
chr17 34270215 34272241 17q11.2-q12 17q12 158106 CCL7, SCYA7, MCP3 Chemokine, C-C motif, ligand 5 CCL7 6354 ENSG00000108688 close to ERBB2
chr17 34285667 34288179 17q21.1-q21.2 17q12 601156 CCL11, SCYA11 Chemokine, C-C motif, ligand 11 CCL11 6356 ENSG00000172156 {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {HIV1, resistance to}, 609423 (3) Ccl11 (MGI:103576)
chr17 34319046 34321401 17q11.2 17q12 602283 CCL8, SCYA8 Chemokine, C-C motif, ligand 8 CCL8 6355 ENSG00000108700
chr17 34356451 34358609 17q11.2 17q12 601391 CCL13, SCYA13, NCC1 Chemokine, C-C motif, ligand 13 CCL13 6357 ENSG00000181374 Ccl2 (MGI:98259)
chr17 34360327 34363232 Chr.17 17q12 182281 CCL1, SCYA1 Chemokine, C-C motif, ligand 1 CCL1 6346 ENSG00000108702 Ccl1 (MGI:98258)
chr17 34580748 34639317 17q12 17q12 616178 TMEM132E Transmembrane protein 132E TMEM132E 124842 ENSG00000181291 Tmem132e (MGI:2685490)
chr17 34927858 34981221 17q12 17q12 610730 CCT6B, CCTZ2 Chaperonin containing T-complex polypeptide 1, subunit 6B CCT6B 10693 ENSG00000132141 Cct6b (MGI:1329013)
chr17 34980497 35005827 17q11.2-q12 17q12 600940 LIG3 Ligase III, DNA, ATP-dependent LIG3 3980 ENSG00000005156 Lig3 (MGI:109152)
chr17 35009111 35089328 17q12 17q12 609735 RFFL Ring finger and FYVE-like domain containing 1 (rififylin) RFFL 117584 ENSG00000092871 Rffl (MGI:1914588)
chr17 35099791 35119868 17q11 17q12 602954 RAD51D, RAD51L3, BROVCA4 RAD51, S. cerevisiae, homolog of, D RAD51D 5892 ENSG00000185379 {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3) Rad51d (MGI:1261809)
chr17 35147792 35189344 17q11 17q12 611220 UNC45B, SMUNC45, CTRCT43 UNC45, C. elegans, homolog of, B UNC45B 146862 ENSG00000141161 mutation identified in 1 CTRCT43 family ?Cataract 43, 616279 (3), Autosomal dominant Unc45b (MGI:2443377)
chr17 35243035 35273654 17q12 17q12 614952 SLFN5 Schlafen family, member 5 SLFN5 162394 ENSG00000166750 Slfn5 (MGI:1329004)
chr17 35350304 35373913 17q12 17q12 614953 SLFN11 Schlafen family, member 11 SLFN11 91607 ENSG00000172716
chr17 35407170 35433309 17q12 17q12 614955 SLFN12 Schlafen family, member 12 SLFN12 55106 ENSG00000172123
chr17 35435095 35522292 17q12 17q12 614957 SLFN13 Schlafen family, member 13 SLFN13 146857 ENSG00000154760 Slfn8,Slfn9 (MGI:2672859,MGI:2445121)
chr17 35474905 35537860 17q12 17q12 614956 SLFN12L Schlafen family, member 12-like SLFN12L 100506736 ENSG00000205045 Slfn3,Slfn4 (MGI:1329005,MGI:1329010)
chr17 35545731 35560840 17q12 17q12 614958 SLFN14, BDPLT20 Schlafen family, member 14 SLFN14 342618 ENSG00000236320 Bleeding disorder, platelet-type, 20, 616913 (3), Autosomal dominant Slfn14 (MGI:2684866)
chr17 35574794 35578636 17q12 17q12 601758 PEX12, PBD3A Peroxisome biogenesis factor 12 PEX12 5193 ENSG00000108733 Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3), Autosomal recessive; Peroxisome biogenesis disorder 3B, 266510 (3), Autosomal recessive Pex12 (MGI:2144177)
chr17 35587262 35726416 17q11.2-q12 17q12 601025 AP2B1, CLAPB1, ADTB2 Adaptor-related protein complex 2, beta 1 subunit AP2B1 163 ENSG00000006125
chr17 35731659 35743520 17q12 17q12 612128 RASL10B, RRP17 Ras-like, family 10, member B RASL10B 91608 ENSG00000270885 Rasl10b (MGI:2685575)
chr17 35744510 35752877 17q12 17q12 611398 GAS2L2, GAR17 Growth arrest-specific 2-like 2 GAS2L2 246176 ENSG00000270765 Gas2l2 (MGI:3652048)
chr17 35756248 35795706 17q11.2 17q12 608417 MMP28 Matrix metalloproteinase 28 MMP28 79148 ENSG00000271447 Mmp28 (MGI:2153062)
chr17 35809454 35847241 17q11.1-q11.2 17q12 601574 TAF15, TAF2N, RBP56 TAF15 RNA polymerase II, TATA box-binding protein-associated factor, 68kD TAF15 8148 ENSG00000270647 fusion gene with CSMF Chondrosarcoma, extraskeletal myxoid, 612237 (1) Taf15 (MGI:1917689)
chr17 35871490 35880372 17q11.2-q12 17q12 187011 CCL5, SCYA5, D17S136E, TCP228 Chemokine, C-C motif, ligand 5 CCL5 6352 ENSG00000271503 {HIV-1 disease, delayed progression of} (3); {HIV-1 disease, rapid progression of} (3) Ccl5 (MGI:98262)
chr17 35918079 35931820 17q11.2 17q12 612896 RDM1 RAD52 motif-containing protein 1 RDM1 201299 ENSG00000278023 Rdm1 (MGI:1913849)
chr17 35934517 35943709 17q11.2 17q12 612751 LYZL6 Lysozyme-like 6 LYZL6 57151 ENSG00000275722 Lyzl6 (MGI:1916694)
chr17 35976492 35983619 17q11.2 17q12 601394 CCL16, SCYA16, NCC4 Chemokine, C-C motif, ligand 16 CCL16 6360 ENSG00000275152
chr17 35983655 35986727 17q11.2 17q12 601392 CCL14, SCYA14, NCC2 Chemokine, C-C motif, ligand 14 CCL14 6358 ENSG00000276409
chr17 35997581 36002037 17q11.2 17q12 601393 CCL15, SCYA15, NCC3, LKN1 Chemokine, C-C motif, ligand 15 CCL15 6359 ENSG00000275718
chr17 36013055 36018178 17q12 17q12 602494 CCL23, SCYA23 Chemokine, C-C motif, ligand 23 CCL23 6368 ENSG00000274736
chr17 36064271 36071480 17q11.2 17q12 603757 CCL18, SCYA18, PARC, AMAC1, DCCK1 Chemokine, C-C motif, ligand 18 CCL18 6362 ENSG00000275385 in 47kb, CCL18-CCL3-CCL4
chr17 36088255 36090159 17q12 17q12 182283 CCL3, SCYA3, MIP1A Chemokine, C-C motif, ligand 3 CCL3 6348 ENSG00000277632 in 47kb, CCL18-CCL3-CCL4 {HIV infection, resistance to}, 609423 (2)
chr17 36103826 36105620 17q12 17q12 182284 CCL4, SCYA4, ACT2, MIP1B, AT744.1 Chemokine, C-C motif, ligand 4 CCL4 6351 ENSG00000275302 Ccl4 (MGI:98261)
chr17 36165680 36176623 17q12 17q12 610144 TBC1D3B, PRC17 TBC1 domain family, member 3B TBC1D3B 414059 ENSG00000274808
chr17 36211062 36212877 17q12 17q12 610757 CCL4L2 Chemokine, CC motif, ligand 4-like 2 CCL4L2 9560 ENSG00000276070
chr17 36322241 36334758 17q12 17q12 610810 TBC1D3G TBC1 domain family, member 3G TBC1D3G 101060321 ENSG00000260287
chr17 36377474 36388451 17q12 17q12 610811 TBC1D3H TBC1 domain family, member 3H TBC1D3H 729877 ENSG00000274226
chr17 36428611 36439522 17q12 17q12 610809 TBC1D3F TBC1 domain family, member 3F TBC1D3F 84218 ENSG00000275954
chr17 36486626 36499309 17q12 17q12 604500 ZNHIT3, TRIP3, PEHO Zinc finger HIT domain-containing protein 3 ZNHIT3 9326 ENSG00000273611 PEHO syndrome, 260565 (3), Autosomal recessive Znhit3 (MGI:3051596)
chr17 36495635 36535456 17q12 17q12 617379 MYO19, MYOHD1 Myosin XIX MYO19 80179 ENSG00000278259 Myo19 (MGI:1913446)
chr17 36534761 36539302 17q12 17q12 610275 PIGW, HPMRS5 Phosphatidylinositol glycan, class W PIGW 284098 ENSG00000277161 Glycosylphosphatidylinositol biosynthesis defect 11, 616025 (3), Autosomal recessive Pigw (MGI:1917575)
chr17 36544887 36589847 17q12-q21.1 17q12 612275 GGNBP2, DIF3, LCRG1, LZK1 Gametogenetin-binding protein 2 GGNBP2 79893 ENSG00000278311 Ggnbp2 (MGI:2387356)
chr17 36591795 36600803 17q12 17q12 616159 DHRS11, SDR24C1 Short-chain dehydrogenase reductase family, member 11 DHRS11 79154 ENSG00000278535 Dhrs11 (MGI:2652816)
chr17 36937474 36944614 17q12 17q12 601999 LHX1, LIM1 LIM/homeodomain protein LHX1 LHX1 3975 ENSG00000273706 previously mapped to 11p13-p12 by FISH Lhx1 (MGI:99783)
chr17 36948874 37056870 17q11.2-q12 17q12 608463 AATF, CHE1 Apoptosis-antagonizing transcription factor AATF 26574 ENSG00000275700 Aatf (MGI:1929608)
chr17 37084991 37406821 17q21 17q12 200350 ACACA, ACAC, ACC1, ACACAD Acetyl-Coenzyme A carboxylase, alpha ACACA 31 ENSG00000278540 proximal to q21.33; others put at 17q12 Acetyl-CoA carboxylase deficiency, 613933 (1), Autosomal recessive Acaca (MGI:108451)
chr17 37406876 37479724 17q12-q21 17q12 602276 TADA2L, TADA2A, ADA2A Transcriptional adaptor 2A TADA2A 6871 ENSG00000276234 Tada2a (MGI:2144471)
chr17 37488560 37513500 Chr.17 17q12 606618 DUSP14, MKP6 Dual-specificity phosphatase 14 DUSP14 11072 ENSG00000276023 Dusp14 (MGI:1927168)
chr17 37514796 37609495 Chr.17 17q12 607291 AP1GBP1, SYNG Adaptor-related protein complex 1 gamma subunit-binding protein 1 SYNRG 11276 ENSG00000275066 Synrg (MGI:1354742)
chr17 37609738 37643463 17q21.1 17q12 612500 DDX52, ROK1, HUSSY19 DEAD box polypeptide 52 DDX52 11056 ENSG00000278053 Ddx52 (MGI:1925644)
chr17 37686430 37745077 17q12 17q12 189907 HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11 HNF1 homeobox B (transcription factor 2) HNF1B 6928 ENSG00000275410 Diabetes mellitus, noninsulin-dependent, 125853 (3), Autosomal dominant; {Renal cell carcinoma}, 144700 (3); Renal cysts and diabetes syndrome, 137920 (3), Autosomal dominant Hnf1b (MGI:98505)
chr17 38004032 38014907 17q12 17q12 610807 TBC1D3D TBC1 domain family, member 3D TBC1D3D 101060389 ENSG00000274419
chr17 38057692 38068633 17q12 17q12 610806 TBC1D3C TBC1 domain family, member 3C TBC1D3C 414060 ENSG00000274808
chr17 38118407 38138867 17q12 17q12 610808 TBC1D3E TBC1 domain family, member 3E TBC1D3E 102723859 ENSG00000273513
chr17 38181475 38192554 17q12 17q12 607741 TBC1D3, PRC17, TBC1D3A TBC1D3 gene TBC1D3 729873 ENSG00000274512
chr17 38297022 38323217 17q21.31 17q12 611850 MRPL45 Mitochondrial ribosomal protein L45 MRPL45 84311 ENSG00000278845 pseudogenes on 2 and 17 Mrpl45 (MGI:1914286)
chr17 38325609 38343809 17q12 17q12 614515 GPR179, GPR158L, GPR158L1, CSNB1E G protein-coupled receptor 179 GPR179 440435 ENSG00000277399 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3), Autosomal recessive Gpr179 (MGI:2443409)
chr17 38419285 38512391 17q12 17q12 610590 ARHGAP23, KIAA1501 RHO GTPase-activating protein 23 ARHGAP23 57636 ENSG00000275832 Arhgap23 (MGI:3697726)
chr17 38530014 38607165 17q12 17q12 610786 SRCIN1, SNIP, KIAA1684 Src kinase signaling inhibitor 1 SRCIN1 80725 ENSG00000277363 Srcin1 (MGI:1933179)
chr17 38671702 38674933 17q12 17q12 617795 EPOP, C17orf96 Elongin BC- and polycomb repressive complex 2-associated protein EPOP 100170841 ENSG00000273604 Epop (MGI:2143991)
chr17 38705619 38729802 17q21 17q12 600328 MLLT6, AF17 Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6 MLLT6 4302 ENSG00000275023 Mllt6 (MGI:1935145)
chr17 38730256 38735604 17q12 17q12 611933 CISD3, MINER2 CDGSH iron sulfur domain protein 3 CISD3 284106 ENSG00000277972 Cisd3b,Cisd3 (MGI:5012452,MGI:101788)
chr17 38733896 38749816 17q12 17q12 600346 RNF110, ZNF144, MEL18 Ring finger protein 110 (zinc finger protein-144) PCGF2 7703 ENSG00000277258 previously assigned to 12q22 Pcgf2 (MGI:99161)
chr17 38752712 38764230 17q12 17q12 602176 PSMB3 Proteasome subunit, beta type, 3 PSMB3 5691 ENSG00000277791 previously assigned to 2q35 Psmb3 (MGI:1347014)
chr17 38765690 38799904 17q12 17q12 603261 PIP4K2B, PIP5P4KB, PIP5K2B Phosphatidylinositol 5-phosphate 4-kinase, type II, beta PIP4K2B 8396 ENSG00000276293 Pip4k2b (MGI:1934234)
chr17 38850067 38853799 17q 17q12 603662 RPL23 Ribosomal protein L23 RPL23 9349 ENSG00000125691 Rpl23 (MGI:1929455)
chr17 38869858 38921769 17q21 17q12 602920 LASP1, MLN50 LIM and SH3 protein 1 LASP1 3927 ENSG00000002834 fused to MLL in AML Lasp1 (MGI:109656)
chr17 38925167 38929383 17q12 17q12 617544 LINC00672 Long intergenic noncoding RNA 672 LINC00672 100505576
chr17 38936277 38967475 17q12 17q12 609498 FBXO47 F-box only protein 47 FBXO47 494188 ENSG00000204952 Fbxo47 (MGI:1920223)
chr17 39063302 39151648 17q21.1 17q12 606826 PLXDC1, TEM7 Plexin domain containing 1 PLXDC1 57125 ENSG00000161381 Plxdc1 (MGI:1919574)
chr17 39173455 39197702 17q21-q22 17q12 114207 CACNB1, CACNLB1, CCHLB1 Calcium channel, voltage-dependent, beta 1 subunit CACNB1 782 ENSG00000067191 Cacnb1 (MGI:102522)
chr17 39200282 39204729 17q11 17q12 180466 RPL19 Ribosomal protein L19 RPL19 6143 ENSG00000108298 Rpl19 (MGI:98020)
chr17 39252643 39402658 17q21.2 17q12 609086 FBXL20, FBL20, FBL2, SCR F-box and leucine-rich repeat protein 20 FBXL20 84961 ENSG00000108306 Fbxl20 (MGI:1919444)
chr17 39404284 39451280 17q12 17q12 604311 MED1, PPARBP, PBP, TRAP220 Mediator complex subunit 1 (peroxisome proliferator-activated receptor-binding protein) MED1 5469 ENSG00000125686 Med1 (MGI:1100846)
chr17 39461485 39567559 17q21 17q12 615514 CDK12, CRKRS, CRK7, KIAA0904 Cyclin-dependent kinase 12 CDK12 51755 ENSG00000167258 Cdk12 (MGI:1098802)
chr17 39603767 39607921 17q12 17q12 601725 NEUROD2 Neurogenic differentiation 2 NEUROD2 4761 ENSG00000171532 Neurod2 (MGI:107755)
chr17 39637079 39664200 17q11-q21 17q12 607048 STARD3, MLN64 Start domain-containing protein 3 STARD3 10948 ENSG00000131748 Stard3 (MGI:1929618)
chr17 39665345 39666553 17q12 17q12 604488 TCAP, LGMD2G, CMH25 Telethonin TCAP 8557 ENSG00000173991 Cardiomyopathy, hypertrophic, 25, 607487 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, type 2G, 601954 (3), Autosomal recessive Tcap (MGI:1330233)
chr17 39667980 39670474 17q12 17q12 171190 PNMT, PENT Phenylethanolamine N-methyltransferase PNMT 5409 ENSG00000141744 Pnmt (MGI:97724)
chr17 39671121 39688069 17q12 17q12 611801 PGAP3, PERLD1, CAB2, MGC9753, HPMRS4 Post-GPI attachment to proteins 3 PGAP3 93210 ENSG00000161395 Hyperphosphatasia with mental retardation syndrome 4, 615716 (3), Autosomal recessive Pgap3 (MGI:2444461)
chr17 39688083 39728661 17q21.1 17q12 164870 ERBB2, NGL, NEU, HER2 Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog) ERBB2 2064 ENSG00000141736 Adenocarcinoma of lung, somatic, 211980 (3); Gastric cancer, somatic, 613659 (3); Glioblastoma, somatic, 137800 (3); Ovarian cancer, somatic (3) Erbb2 (MGI:95410)
chr17 39728499 39730562 17q12 17q12 611802 MIEN1, C17orf37, RDX12 Migration and invasion enhancer 1 MIEN1 84299 ENSG00000141741 Mien1 (MGI:1913678)
chr17 39737900 39747284 17q21-q22 17q12 601522 GRB7 Growth factor receptor-bound protein 7 GRB7 2886 ENSG00000141738 Grb7 (MGI:102683)
chr17 39757714 39864187 17q21 17q12-q21 606221 IKZF3, ZNFN1A3, AIOLOS Ikaros family zinc finger 3 IKZF3 22806 ENSG00000161405 Ikzf3 (MGI:1342542)
chr17 39800000 52100000 17q21 611403 ASRT6 Asthma-related traits, susceptibility to, 6 100188840 strongly associated with rs7216389 {Asthma-related traits, susceptibility to, 6}, 611403 (2)
chr17 39800000 52100000 17q21 610676 AUTS7 Autism, susceptibility to, 7 100188816 max lod at D17S2180 {Autism susceptibility 7}, 610676 (2)
chr17 39800000 59500000 17q21-q22 610997 HPC9 Prostate cancer, hereditary, 9 100188826 max LOD at D17S1820 {Prostate cancer, hereditary, 9}, 610997 (2)
chr17 39800000 59500000 17q21-q22 608474 MYP5 Myopia 5 MYP5 404682 between D17S787 and D17S1811 Myopia 5, 608474 (2), Autosomal dominant
chr17 39800000 59500000 17q21-q22 168860 PTLAH, FPAH Patella aplasia or hypoplasia PTLAH 8830 Patella aplasia or hypoplasia, 168860 (2), Autosomal dominant
chr17 39868163 39877895 17q12-q21 17q21.1 608499 ZPBP2, ZPBPL Zona pellucida-binding protein 2 ZPBP2 124626 ENSG00000186075 Zpbp2 (MGI:1916626)
chr17 39904594 39918649 17q21 17q21.1 611221 GSDMB, GSDML Gasdermin B GSDMB 55876 ENSG00000073605
chr17 39921040 39927803 17q21.1 17q21.1 610075 ORMDL3 ORM1-like protein 3 ORMDL3 94103 ENSG00000172057 Ormdl3 (MGI:1913862)
chr17 39962972 39977765 17q12 17q21.1 611218 GSDMA, GSDM1, GSDM Gasdermin A GSDMA 284110 ENSG00000167914 Gsdma (MGI:1889509)
chr17 39980767 39997959 17q21.1 17q21.1 617676 PSMD3, RPN3 Proteasome 26S subunit, non-ATPase, 3 PSMD3 5709 ENSG00000108344 Psmd3 (MGI:98858)
chr17 40015360 40017812 17q11.2-q12 17q21.1 138970 CSF3, GCSF Colony-stimulating factor-3 (granulocyte) CSF3 1440 ENSG00000108342 Csf3 (MGI:1339751)
chr17 40019096 40054741 17q21.1 17q21.1 607000 MED24, TRAP100, KIAA0130 Mediator complex subunit 24 MED24 9862 ENSG00000008838 Med24 (MGI:1344385)
chr17 40062192 40093866 17q11.2 17q21.1 190120 THRA, ERBA1, THRA1, CHNG6 Thyroid hormone receptor, alpha (oncogene ERBA1) THRA 7067 ENSG00000126351 Hypothyroidism, congenital, nongoitrous, 6, 614450 (3), Autosomal dominant Thra (MGI:98742)
chr17 40092783 40100724 17q11.2 17q21.1 602408 NR1D1, THRAL, EAR1 Nuclear receptor 1, subfamily D, member 1 (thyroid hormone receptor, alpha-1-like) NR1D1 9572 ENSG00000126368 Nr1d1 (MGI:2444210)
chr17 40121408 40136789 17q21.1 17q21.1 614801 MSL1 Male-specific lethal 1, Drosophila, homolog of MSL1 339287 ENSG00000188895 Msl1 (MGI:1921276)
chr17 40140253 40172177 17q12-q21.3 17q21.1 606504 MLN51, CASC3 MLN51 gene CASC3 22794 ENSG00000108349 Casc3 (MGI:2179723)
chr17 40200000 42800000 17q21.2 612380 IBD22 Inflammatory bowel disease 22 100240732 associated with rs744166 {Inflammatory bowel disease 22}, 612380 (2)
chr17 40219303 40284135 17q21.2 17q21.2 609692 WIRE, WICH WASP-interacting protein-related protein WIPF2 147179 ENSG00000171475 Wipf2 (MGI:1924462)
chr17 40287877 40303160 17q21.2 17q21.2 602627 CDC6, CDC18L, MGORS5 Cell division cycle 6, S. cerevisiae, homolog of CDC6 990 ENSG00000094804 mutation identified in 1 MGORS5 patient ?Meier-Gorlin syndrome 5, 613805 (3), Autosomal recessive Cdc6 (MGI:1345150)
chr17 40309170 40357642 17q21.1 17q21.2 180240 RARA Retinoic acid receptor, alpha polypeptide RARA 5914 ENSG00000131759 fused with MYL in APL Leukemia, acute promyelocytic, 612376 (1) Rara (MGI:97856)
chr17 40360651 40364692 17q21.1 17q21.2 607425 GJD3, GJC1, CX31.9 Gap junction protein, delta-3 (31.9kD) GJD3 125111 ENSG00000183153 Gjd3 (MGI:2384150)
chr17 40388520 40417949 17q21-q22 17q21.2 126430 TOP2A, TOP2 Topoisomerase (DNA) II, alpha, 170kD TOP2A 7153 ENSG00000131747 DNA topoisomerase II, resistance to inhibition of, by amsacrine (3) Top2a (MGI:98790)
chr17 40443423 40457729 17q12-q21 17q21.2 146733 IGFBP4 Insulin-like growth factor-binding protein-4 IGFBP4 3487 ENSG00000141753 Igfbp4 (MGI:96439)
chr17 40475827 40501680 17q12-q21 17q21.2 608385 TNS4, CTEN Tensin 4 TNS4 84951 ENSG00000131746 Tns4 (MGI:2144377)
chr17 40553768 40565483 17q12-q21.2 17q21.2 600242 CCR7, CMKBR7, EBI1 Chemokine (C-C) receptor 7 (Epstein-Barr virus induced gene 1) CCR7 1236 ENSG00000126353 Ccr7 (MGI:103011)
chr17 40627719 40647850 17q21.2 17q21.2 603111 SMARCE1, BAF57, CSS5 SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily E, member 1 SMARCE1 6605 ENSG00000073584 Coffin-Siris syndrome 5, 616938 (3), Autosomal dominant; {Meningioma, familial, susceptibility to}, 607174 (3), Autosomal dominant Smarce1 (MGI:1927347)
chr17 40694245 40703749 17q11.2 17q21.2 607742 KRT24, FLJ20261 Keratin 24 KRT24 192666 ENSG00000167916 Krt24 (MGI:1922956)
chr17 40748020 40755541 17q21.2 17q21.2 616646 KRT25, K25, KRT24IRS1, ARWH3 Keratin 25, type I KRT25 147183 ENSG00000204897 Woolly hair, autosomal recessive 3, 616760 (3), Autosomal recessive Krt25 (MGI:1918060)
chr17 40766237 40772158 17q21.2 17q21.2 616675 KRT26, K25, K25B, K25IRS2 Keratin 26, type I KRT26 353288 ENSG00000186393 Krt26 (MGI:2444913)
chr17 40776807 40782533 17q21.2 17q21.2 616676 KRT27, KRT25C, K25IRS3 Keratin 27, type I KRT27 342574 ENSG00000171446 Krt27 (MGI:1339999)
chr17 40792195 40799958 17q21.2 17q21.2 616677 KRT28, K25D, K25IRS4 Keratin 28, type I KRT28 162605 ENSG00000173908 Krt28 (MGI:1918093)
chr17 40818116 40822620 17q21-q22 17q21.2 148080 KRT10, EHK, BCIE, BIE Keratin 10 KRT10 3858 ENSG00000186395 in cluster of class I keratins Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive, Autosomal dominant; Ichthyosis with confetti, 609165 (3), Autosomal dominant; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3), Autosomal dominant
chr17 40861177 40867209 17q12 17q21.2 601687 KRT12 Keratin 12 KRT12 3859 ENSG00000187242 Meesmann corneal dystrophy, 122100 (3), Autosomal dominant Krt12 (MGI:96687)
chr17 40875888 40885242 17q12-q21 17q21.2 608218 KRT20, CD20, KRT21 Keratin 20 KRT20 54474 ENSG00000171431 Krt20 (MGI:1914059)
chr17 40922695 40937642 17q21.2 17q21.2 606194 KRT23 Keratin 23 KRT23 25984 ENSG00000108244 Krt23 (MGI:2148866)
chr17 40958416 40966891 17q21.2 17q21.2 616678 KRT39 Keratin 38, type I KRT39 390792 ENSG00000196859 Krt39 (MGI:3588208)
chr17 40977715 40987134 17q21.2 17q21.2 616679 KRT40, KA36 Keratin 40, type I KRT40 125115 ENSG00000204889 Krt40 (MGI:3629968)
chr17 41026025 41027201 17q12-q21 17q21.2 608822 KRTAP-15, KAP1.5 Keratin-associated protein 1-5 KRTAP1-5 83895 ENSG00000221852 Krtap1-4 (MGI:3651229)
chr17 41029676 41030124 17q12-q21 17q21.2 608821 KRTAP1-4, KAP1.4 Keratin-associated protein 1-4 KRTAP1-4 728255 ENSG00000204887
chr17 41033883 41034854 17q12-q21 17q21.2 608820 KRTAP1-3, KAP1.3, KAP1.2, KAP1.9 Keratin-associated protein 1-3 KRTAP1-3 81850 ENSG00000221880 Krtap9-3 (MGI:1922836)
chr17 41040558 41041460 17q12-q21 17q21.2 608819 KRTAP1-1, KAP1.1, KAP1.7, KAP1.6 Keratin-associated protein 1-1 KRTAP1-1 81851 ENSG00000188581 Krtap1-3 (MGI:3650443)
chr17 41345703 41350811 17q12-q21 17q21.2 602761 KRT33A, KRTHA3A, HA3I Keratin 33A KRT33A 3883 ENSG00000006059
chr17 41363493 41369799 17q12-q21 17q21.2 602762 KRT33B, KRTHA3A, HA3II Keratin 33B KRT33B 3884 ENSG00000131738
chr17 41377664 41383815 17q12-q21 17q21.2 602763 KRT34, KRTHA4, HA4 Keratin 34 KRT34 3885 ENSG00000131737 Krt34 (MGI:1309994)
chr17 41393723 41397591 17q12-q21 17q21.2 601077 KRT31, KRTHA1, HA1 Keratin 31 KRT31 3881 ENSG00000094796 Krt33b,Krt33a,Krt31 (MGI:1919138,MGI:1309993,MGI:1309991)
chr17 41420556 41424569 17q12-q21 17q21.2 604541 KRT37, KRTHA7, HA7 Keratin 37 KRT37 8688 ENSG00000108417
chr17 41436368 41441343 17q12-q21 17q21.2 604542 KRT38, KRTHA8, HA8 Keratin 38 KRT38 8687 ENSG00000171360
chr17 41459512 41469251 17q12-q21 17q21.2 602760 KRT32, KRTHA2, HA2 Keratin 32 KRT32 3882 ENSG00000108759 Krt32 (MGI:1309995)
chr17 41476688 41482742 17q12-q21 17q21.2 602764 KRT35, KRTHA5 Keratin 35 KRT35 3886 ENSG00000197079 Krt35 (MGI:1858899)
chr17 41486135 41489863 17q12-q21 17q21.2 604540 KRT36, KRTHA6, HA6 Keratin 36 KRT36 8689 ENSG00000126337 Krt36 (MGI:109364)
chr17 41500980 41505612 17q21.2 17q21.2 148065 KRT13, WSN2 Keratin 13 KRT13 3860 ENSG00000171401 in same PFGE fragment as KRT10, KRT15 White sponge nevus 2, 615785 (3), Autosomal dominant Krt13 (MGI:101925)
chr17 41513744 41521923 17q21-q22 17q21.2 148030 KRT15 Keratin 15 KRT15 3866 tightly linked to Hox-2 in mouse Krt15 (MGI:96689)
chr17 41523616 41528388 17q21-q22 17q21.2 148020 KRT19 Keratin 19 KRT19 3880 ENSG00000171345 probably 17q21-q22 Krt19 (MGI:96693)
chr17 41565840 41572057 17q12-q21 17q21.2 607606 KRT9, EPPK Keratin 9 KRT9 3857 ENSG00000171403 Palmoplantar keratoderma, epidermolytic, 144200 (3), Autosomal dominant
chr17 41582278 41586894 17q12-q21 17q21.2 148066 KRT14 Keratin 14 KRT14 3861 ENSG00000186847 Dermatopathia pigmentosa reticularis, 125595 (3), Autosomal dominant; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3), Autosomal dominant; Epidermolysis bullosa simplex, Koebner type, 131900 (3), Autosomal dominant; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3), Autosomal dominant; Epidermolysis bullosa simplex, recessive 1, 601001 (3), Autosomal recessive; Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3), Autosomal dominant Krt14 (MGI:96688)
chr17 41609777 41612826 17q12-q21 17q21.2 148067 KRT16, FNEPPK, PC1 Keratin 16 KRT16 3868 ENSG00000186832 probably 17q21-q22 Pachyonychia congenita 1, 167200 (3), Autosomal dominant; Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3), Autosomal dominant Krt16 (MGI:96690)
chr17 41619439 41624629 17q12-q21 17q21.2 148069 KRT17, PC2, PCHC1 Keratin 17 KRT17 3872 ENSG00000128422 ~5' to KRT16; probably 17q21-q22 Pachyonychia congenita 2, 167210 (3), Autosomal dominant; Steatocystoma multiplex, 184500 (3), Autosomal dominant Krt17 (MGI:96691)
chr17 41712325 41715968 17q21 17q21.2 137250 GAS, GAST Gastrin GAST 2520 ENSG00000184502 Gast (MGI:104768)
chr17 41722638 41734645 17q21.2-q21.3 17q21.2 600947 HAP1, HLP, HAP2 Huntingtin-associated protein 1 (neuroan 1) HAP1 9001 ENSG00000173805 Hap1 (MGI:1261831)
chr17 41754606 41786767 17q21 17q21.2 173325 JUP, DP3, PDGB, ARVD12 Junction plakoglobin JUP 3728 ENSG00000173801 incorrectly mapped to 7; close to BRCA1 Arrhythmogenic right ventricular dysplasia 12, 611528 (3), Autosomal dominant; Naxos disease, 601214 (3), Autosomal recessive Jup (MGI:96650)
chr17 41801951 41812709 17q21.2 17q21.2 617419 P3H4, SC65, LEPREL4 Proyly 3-hydroxylase 4 P3H4 10609 ENSG00000141696 P3h4 (MGI:1913430)
chr17 41812709 41823216 17q21.2 17q21.2 607063 FKBP10, FKBP65, OI11, BRKS1 FK506-binding protein 10 FKBP10 60681 ENSG00000141756 Bruck syndrome 1, 259450 (3), Autosomal recessive; Osteogenesis imperfecta, type XI, 610968 (3), Autosomal recessive Fkbp10 (MGI:104769)
chr17 41835684 41848367 17q21.2 17q21.2 608778 KLHL10, SPGF11 Kelch-like 10 KLHL10 317719 ENSG00000161594 Spermatogenic failure 11, 615081 (3), Autosomal dominant Klhl10 (MGI:2181067)
chr17 41866915 41930541 17q21.1 17q21.2 108728 ACLY ATP citrate lyase ACLY 47 ENSG00000131473 Acly (MGI:103251)
chr17 41930593 41966516 17q21.2 17q21.2 617095 TTC25, CILD35 Tetratricopeptide repeat domain-containing protein 25 TTC25 83538 ENSG00000204815 Ciliary dyskinesia, primary, 35, 617092 (3), Autosomal recessive Ttc25 (MGI:1921657)
chr17 41966740 41977739 17q21 17q21.2 123830 CNP, CNP1 2', 3' cyclic nucleotide 3' phosphohydrolase CNP 1267 ENSG00000173786 flanked by THRA1 and NGFR Cnp (MGI:88437)
chr17 41976420 42021370 17q11-q23 17q21.2 601964 DANJC7, TTC2, TPR2 DnaJ, E. coli, homolog of, subfamily C, member 7 (tetratricopeptide repeat domain 2) DNAJC7 7266 ENSG00000168259 Dnajc7 (MGI:1928373)
chr17 42017575 42025640 17q21.1 17q21.2 604497 NKIRAS2, KBRAS2 NFKB inhibitor-interacting Ras-like protein 2 NKIRAS2 28511 ENSG00000168256 Nkiras2 (MGI:1919216)
chr17 42101403 42112732 17q21.2 17q21.2 608588 DHX58, LGP2, D11LGP2 DEAH (Asp-Glu-Ala-His) box polypeptide 58 DHX58 79132 ENSG00000108771 Dhx58 (MGI:1931560)
chr17 42113110 42121408 17q21 17q21.2 602301 KAT2A, GCN5L2, GCN5 K(lysine) acetyltransferase 2A KAT2A 2648 ENSG00000108773 Kat2a (MGI:1343101)
chr17 42122737 42123352 17q21.3 17q21.2 608344 HSPB9 Heat-shock 27kD protein 9 HSPB9 94086 ENSG00000260325 Hspb9 (MGI:1922732)
chr17 42124975 42155043 17q21.2 17q21.2 604037 RAB5C, RABL Ras-associated protein RAB5c RAB5C 5878 ENSG00000108774 Rab5c (MGI:105306)
chr17 42184059 42185451 17q21 17q21.2 602358 HCRT, OX, NRCLP1 Hypocretin HCRT 3060 ENSG00000161610 mutation identified in 1 NRCLP1 patient ?Narcolepsy 1, 161400 (3), Autosomal dominant Hcrt (MGI:1202306)
chr17 42199176 42288436 17q11.2 17q21.2 604260 STAT5B Signal transducer and activator of transcription 5B STAT5B 6777 ENSG00000173757 fused with RARA in PML Growth hormone insensitivity with immunodeficiency, 245590 (3); Leukemia, acute promyelocytic, somatic, 102578 (3) Stat5b (MGI:103035)
chr17 42287546 42311942 17q21.2 17q21.2 601511 STAT5A, STAT5, MGF Signal transducer and activator of transcription 5a STAT5A 6776 ENSG00000126561 Stat5a (MGI:103036)
chr17 42313323 42388502 17q21 17q21.2 102582 STAT3, APRF, HIES, ADMIO1 Signal transducer and activator of transcription-3 (acute-phase response factor) STAT3 6774 ENSG00000168610 Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3), Autosomal dominant; Hyper-IgE recurrent infection syndrome, 147060 (3), Autosomal dominant Stat3 (MGI:103038)
chr17 42402448 42423319 17q21 17q21.2 603198 CAVIN1, PTRF Caveolae-associated protein 1 CAVIN1 284119 ENSG00000177469 Lipodystrophy, congenital generalized, type 4, 613327 (3), Autosomal recessive Cavin1 (MGI:1277968)
chr17 42458843 42522578 17q21 17q21.2 192130 ATP6V0A1, ATP6N1A, VPP1 ATPase, H+ transporting, lysosomal, V0 subunit A1 ATP6V0A1 535 ENSG00000033627 Atp6v0a1 (MGI:103286)
chr17 42534237 42544448 17q21 17q21.2 609701 NAGLU, MPS3B, CMT2V N-acetylglucosaminidase, alpha- NAGLU 4669 ENSG00000108784 mutation identified in 1 CMT2V family ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3), Autosomal dominant; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3), Autosomal recessive Naglu (MGI:1351641)
chr17 42552557 42555213 17q21.2 17q21.2 109684 HSD17B1, EDH17B2 Estradiol 17-beta-dehydrogenase-1 HSD17B1 3292 ENSG00000108786 Hsd17b1 (MGI:105077)
chr17 42562073 42566280 17q12-q21 17q21.2 609855 COASY, NBIA6 Coenzyme A synthase COASY 80347 ENSG00000068120 Neurodegeneration with brain iron accumulation 6, 615643 (3), Autosomal recessive Coasy (MGI:1918993)
chr17 42567059 42573202 17q21.1 17q21.2 602976 MLX, TCFL4 MAX-like protein X MLX 6945 ENSG00000108788 Mlx (MGI:108398)
chr17 42572309 42577830 17q21.2 17q21.2 608665 PSMC3IP, TBPIP, GT198, HOP2, ODG3 PSMC3-interacting protein PSMC3IP 29893 ENSG00000131470 Ovarian dysgenesis 3, 614324 (3), Autosomal recessive Psmc3ip (MGI:1098610)
chr17 42579507 42609426 17q21.2 17q21.2 616498 FAM134C Family with sequence similarity 134, member C RETREG3 162427 ENSG00000141699 Retreg3 (MGI:1915248)
chr17 42609339 42615237 17q21 17q21.2 191135 TUBG1, CDCBM4 Tubulin, gamma 1 TUBG1 7283 ENSG00000131462 Cortical dysplasia, complex, with other brain malformations 4, 615412 (3), Autosomal dominant Tubg1 (MGI:101834)
chr17 42659247 42667005 17q21 17q21.2 605785 TUBG2 Tubulin, gamma 2 TUBG2 27175 ENSG00000037042 pseudogene on chr. 7 Tubg2 (MGI:2144208)
chr17 42679401 42681826 17q21.2 17q21.2 600240 CCR10, GPR2 Chemokine (C-C) receptor 10 CCR10 2826 ENSG00000184451 Ccr10 (MGI:1096320)
chr17 42679766 42699992 17q21 17q21.2 602346 CNTNAP1, CASPR, P190 Contactin-associated protein 1 CNTNAP1 8506 ENSG00000108797 Lethal congenital contracture syndrome 7, 616286 (3), Autosomal recessive Cntnap1 (MGI:1858201)
chr17 42700274 42745095 17q21.1-q21.3 17q21.2 601674 EZH1 Enhancer of zeste, Drosophila, homolog of, 1 EZH1 2145 ENSG00000108799 Ezh1 (MGI:1097695)
chr17 42761193 42763040 17q12-q21.1 17q21.2 605154 RAMP2 Receptor activity-modifying protein 2 RAMP2 10266 ENSG00000131477 Ramp2 (MGI:1859650)
chr17 42773435 42779599 17q21.3 17q21.2 610907 VPS25, FAP20 Vacuolar protein sorting 25, S. cerevisiae, homolog of VPS25 84313 ENSG00000131475 Vps25 (MGI:106354)
chr17 42779700 42797065 17q21-q22 17q21.2 601844 WNK4, PRKWNK4, PHA2B WNK lysine deficient protein kinase 4 WNK4 65266 ENSG00000126562 Pseudohypoaldosteronism, type IIB, 614491 (3), Autosomal dominant Wnk4 (MGI:1917097)
chr17 42797617 42798724 17q21.31 17q21.2 614775 COA3, CCDC56 Cytochrome c oxidase assembly factor 3 COA3 28958 ENSG00000183978 Coa3 (MGI:1098757)
chr17 42800000 46800000 17q21.31 613533 DUP17q21.31, C17DUPq21.31 Chromosome 17q21.31 duplication syndrome contiguous gene duplication syndrome Chromosome 17q21.31 duplication syndrome, 613533 (4)
chr17 42800000 52100000 17q21.3 603279 ERDA1 Expanded repeat domain, CAG/CTG, 1 ERDA1 9030 no apparent pathology
chr17 42800000 59500000 17q21.31-q22 615162 MRT35 Mental retardation, autosomal recessive 35 101409266 between rs4792947 and rs11079258 Mental retardation, autosomal recessive 35, 615162 (2), Autosomal recessive
chr17 42810131 42824315 17q21 17q21.31 604378 BECN1 Beclin 1 BECN1 8678 ENSG00000126581 Becn1 (MGI:1891828)
chr17 42833141 42843759 17q12-q21 17q21.31 605129 PSME3, PA28G Proteasome activator subunit 3 PSME3 10197 ENSG00000131467 Psme3 (MGI:1096366)
chr17 42844582 42850711 17q21 17q21.31 602268 AOC2, RAO Amine oxidase, copper-containing, 2 AOC2 314 ENSG00000131480 Aoc2 (MGI:2668431)
chr17 42851181 42858129 17q21 17q21.31 603735 AOC3, HPAO, VAP1 Amine oxidase, copper-containing 3 AOC3 8639 ENSG00000131471 Aoc3 (MGI:1306797)
chr17 42900796 42914432 17q21 17q21.31 613742 G6PC, G6PT Glucose-6-phosphatase, catalytic G6PC 2538 ENSG00000131482 Glycogen storage disease Ia, 232200 (3), Autosomal recessive G6pc (MGI:95607)
chr17 42950525 42964497 17q21.31 17q21.31 613212 AARSD1 Alanyl-tRNA synthetase domain-containing 1 AARSD1 80755 ENSG00000266967 Aarsd1 (MGI:1916934)
chr17 42998272 43002958 17q21.1-q21.2 17q21.31 607526 RPL27, DBA16 Ribosomal protein L27 RPL27 6155 ENSG00000131469 mutation identified in 1 DBA16 patient ?Diamond-Blackfan anemia 16, 617408 (3), Autosomal dominant Rpl27 (MGI:98036)
chr17 43006724 43014458 17q21 17q21.31 600735 IFI35 Interferon-induced protein-35 IFI35 3430 ENSG00000068079 Ifi35 (MGI:1917360)
chr17 43014604 43022441 17q21 17q21.31 604631 VAT1 Vesicle amine transport protein 1 VAT1 10493 ENSG00000108828 Vat1 (MGI:1349450)
chr17 43025240 43032040 17q21 17q21.31 601555 RND2, ARHN, RHO7 Ras homolog gene family, member N (GTP-binding protein Rho7) RND2 8153 ENSG00000108830 Rnd2 (MGI:1338755)
chr17 43044294 43125482 17q21 17q21.31 113705 BRCA1, PSCP, BROVCA1, PNCA4, FANCS Breast cancer-1 gene BRCA1 672 ENSG00000012048 {Breast-ovarian cancer, familial, 1}, 604370 (3), Autosomal dominant, Multifactorial; Fanconi anemia, complementation group S, 617883 (3), Autosomal recessive; {Pancreatic cancer, susceptibility to, 4}, 614320 (3) Brca1 (MGI:104537)
chr17 43170309 43211688 17q21.1 17q21.31 166945 NBR1, M17S2 Neighbor of BRCA1 gene 1 (membrane component, chromosome 17, surface marker 2) NBR1 4077 ENSG00000188554 Nbr1 (MGI:108498)
chr17 43233789 43233976 17q21-q22 17q21.31 180690 RNU2-1, RNU2 RNA, U2 small nuclear, 1 RNU2-1 6066
chr17 43398984 43401135 17q12-q21 17q21.31 600732 ARL4D, ARF4L ADP-ribosylation factor-like 4D ARL4D 379 ENSG00000175906 Arl4d (MGI:1933155)
chr17 43483864 43544786 17q21.31 17q21.31 600396 DHX8, DDX8, HRH1 DEAH (Asp-Glu-Ala-His) box polypeptide 8 DHX8 1659 ENSG00000067596 Dhx8 (MGI:1306823)
chr17 43527842 43546431 17q21 17q21.31 600711 ETV4 ETS variant gene-4 (E1A enhancer-binding protein, E1AF) ETV4 2118 ENSG00000175832 Etv4 (MGI:99423)
chr17 43640388 43661976 17q21 17q21.31 600147 MEOX1, MOX1, KFS2 Mesenchyme homeo box 1 (Mox1, mouse, homolog of) MEOX1 4222 ENSG00000005102 Klippel-Feil syndrome 2, 214300 (3), Autosomal recessive Meox1 (MGI:103220)
chr17 43753730 43758787 17q12-q21 17q21.31 605740 SOST, VBCH, CDD, SOST1 Sclerostin SOST 50964 ENSG00000167941 Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3), Autosomal dominant; Sclerosteosis 1, 269500 (3), Autosomal recessive; Van Buchem disease, 239100 (3), Autosomal recessive Sost (MGI:1921749)
chr17 43766120 43778999 17q21 17q21.31 600183 DUSP3, VHR Dual specificity phosphatase-3 (vaccinia virus phosphatase VH1-related) DUSP3 1845 ENSG00000108861 Dusp3 (MGI:1919599)
chr17 43800798 43833193 17q12-q21 17q21.31 601114 MPP3, DLG3 Membrane protein, palmitoylated-3 (MAGUK p55 subfamily member 3) MPP3 4356 ENSG00000161647 Mpp3 (MGI:1328354)
chr17 43847096 43863638 17q21.31 17q21.31 610520 CD300LG, TREM4, CLM9 CD300 antigen-like family, member G CD300LG 146894 ENSG00000161649 Cd300lg (MGI:1289168)
chr17 43875356 43909710 17q12-q21 17q21.31 600723 MPP2, DLG2 Membrane protein, palmitoylated-2 (MAGUK p55 subfamily member 2) MPP2 4355 ENSG00000108852 Mpp2 (MGI:1858257)
chr17 43940801 43944211 17q12-q21 17q21.31 167780 PPY Pancreatic polypeptide PPY 5539 ENSG00000108849 in rat, close to GH Ppy (MGI:97753)
chr17 43952732 44004468 17q21 17q21.31 600781 PYY Peptide YY PYY 5697 ENSG00000131096 10kb from PPY Pyy (MGI:99924)
chr17 44004545 44009067 17q21.31 17q21.31 608300 NAGS N-acetylglutamate synthase NAGS 162417 ENSG00000161653 N-acetylglutamate synthase deficiency, 237310 (3), Autosomal recessive Nags (MGI:2387600)
chr17 44034634 44067618 17q21.31 17q21.31 611793 LSM12 LSM12, S. cerevisiae, homolog of LSM12 124801 ENSG00000161654 Lsm12 (MGI:1919592)
chr17 44070699 44076343 17q21 17q21.31 611045 G6PC3, UGRP, SCN4 Glucose-6-phosphatase, catalytic, 3 G6PC3 92579 ENSG00000141349 Dursun syndrome, 612541 (3), Autosomal recessive; Neutropenia, severe congenital 4, autosomal recessive, 612541 (3), Autosomal recessive G6pc3 (MGI:1915651)
chr17 44076752 44123650 17q21 17q21.31 605315 HDAC5 Histone deacetylase 5 HDAC5 10014 ENSG00000108840 Hdac5 (MGI:1333784)
chr17 44170705 44179082 17q21.31 17q21.31 615056 ASB16 Ankyrin repeat- and SOCS box-containing protein 16 ASB16 92591 ENSG00000161664 Asb16 (MGI:2654437)
chr17 44205032 44221625 17q21.3 17q21.31 600673 UBTF, UBF, CONDBA Upstream binding transcription factor, RNA polymerase I UBTF 7343 ENSG00000108312 Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3), Autosomal dominant Ubtf (MGI:98512)
chr17 44226960 44230549 17q21-q22 17q21.31 600739 SHCL1 SHC (Src homology 2 domain-containing) transforming protein-like 1 SHC1P2 6466
chr17 44248389 44268160 17q21-q22 17q21.31 109270 SLC4A1, AE1, EPB3, SPH4, SAO, CHC Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) SLC4A1 6521 ENSG00000004939 [Blood group, Diego], 110500 (3); [Blood group, Froese], 601551 (3); [Blood group, Swann], 601550 (3); [Blood group, Waldner], 112010 (3); [Blood group, Wright], 112050 (3); Cryohydrocytosis, 185020 (3), Autosomal dominant; [Malaria, resistance to], 611162 (3); Ovalocytosis, SA type, 166900 (3), Autosomal dominant; Renal tubular acidosis, distal, AD, 179800 (3), Autosomal dominant; Renal tubular acidosis, distal, AR, 611590 (3), Autosomal recessive; Spherocytosis, type 4, 612653 (3), Autosomal dominant Slc4a1 (MGI:109393)
chr17 44308558 44318669 17q21.3 17q21.31 605448 RUNDC3A, RPIP8 RUN domain contain 3A RUNDC3A 10900 ENSG00000108309 Rundc3a (MGI:1858752)
chr17 44319624 44324869 17q21.31 17q21.31 610820 SLC25A39, CGI69 Solute carrier family 25, member 39 SLC25A39 51629 ENSG00000013306 Slc25a39 (MGI:1196386)
chr17 44345085 44353105 17q21.32 17q21.31 138945 GRN, CLN11 Granulin GRN 2896 ENSG00000030582 Aphasia, primary progressive, 607485 (3), Autosomal dominant; Ceroid lipofuscinosis, neuronal, 11, 614706 (3), Autosomal recessive; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3), Autosomal dominant Grn (MGI:95832)
chr17 44372180 44389600 17q21.32 17q21.31 607759 ITGA2B, GP2B, CD41B, GT, BDPLT2, BDPLT16 Integrin, alpha-2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) ITGA2B 3674 ENSG00000005961 3' to GP3A; BAK platelet antigen Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3), Autosomal dominant; Glanzmann thrombasthenia, 273800 (3), Autosomal recessive; Thrombocytopenia, neonatal alloimmune, BAK antigen related (3) Itga2b (MGI:96601)
chr17 44395276 44503601 17q21.31 17q21.31 614396 GPATCH8, KIAA0553 G-patch domain-containing protein 8 GPATCH8 23131 ENSG00000186566 Gpatch8 (MGI:1918667)
chr17 44557443 44561261 17q21.1 17q21.31 600667 FZD2 Frizzled, Drosophila, homolog of, 2 FZD2 2535 ENSG00000180340 Fzd2 (MGI:1888513)
chr17 44656393 44677085 17q21.31 17q21.31 616934 MEIOC, C17orf104 Meiosis-specific protein with coiled-coil domain MEIOC 284071 ENSG00000180336 Meioc (MGI:2686410)
chr17 44708580 44752731 17q21 17q21.31 611661 DBF4B, DRF1, ASKL1 DBF4, S. cerevisiae, homolog of, B DBF4B 80174 ENSG00000161692
chr17 44759150 44781845 17q21.3 17q21.31 155120 ADAM11, MDC A disintegrin and metalloproteinase domain 11 ADAM11 4185 ENSG00000073670 Adam11 (MGI:1098667)
chr17 44850286 44899624 17q21.31 17q21.31 603892 EFTUD2, KIAA0031, MFDGA Elongation factor Tu GTP-binding domain-containing 2 EFTUD2 9343 ENSG00000108883 Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3), Autosomal dominant Eftud2 (MGI:1336880)
chr17 44899711 44903678 17q21.31 17q21.31 614677 CCDC103, SMH, PR46B, CILD17 Coiled-coil domain-containing protein 103 CCDC103 388389 ENSG00000167131 Ciliary dyskinesia, primary, 17, 614679 (3), Autosomal recessive Ccdc103 (MGI:1920543)
chr17 44905625 44915551 17q21 17q21.31 137780 GFAP, ALXDRD Glial fibrillary acidic protein GFAP 2670 ENSG00000131095 Alexander disease, 203450 (3), Autosomal dominant Gfap (MGI:95697)
chr17 44924710 44947745 17q21.31 17q21.31 614570 KIF18B Kinesin family member 18B KIF18B 146909 ENSG00000186185 Kif18b (MGI:2446979)
chr17 44959692 44968275 17q21 17q21.31 611586 C1QL1, CRF, C1QRF Complement component 1, q subcomponent-like 1 C1QL1 10882 ENSG00000131094 C1ql1 (MGI:1344400)
chr17 45061298 45109015 17q21.31 17q21.31 160993 NMT1, NMT N-myristoyltransferase 1 NMT1 4836 ENSG00000136448 Nmt1 (MGI:102579)
chr17 45147316 45152100 Chr.17 17q21.31 607328 CLP1, HIS1 Cardiac lineage protein 1 HEXIM1 10614 ENSG00000186834 Hexim1 (MGI:2385923)
chr17 45159947 45170039 17q21.32 17q21.31 615695 HEXIM2 Hexamethylene bis acetamide-inducible protein 2 HEXIM2 124790 ENSG00000168517 Hexim2 (MGI:1918309)
chr17 45220267 45247321 17q21 17q21.31 604656 FMNL, C17orf1B Formin-like FMNL1 752 ENSG00000184922
chr17 45263118 45317063 17q21 17q21.31 604655 MAP3K14, NIK, HSNIK Mitogen-activated protein kinase kinase kinase-14 MAP3K14 9020 ENSG00000006062 Map3k14 (MGI:1858204)
chr17 45393901 45432915 17q21 17q21.31 610591 ARHGAP27, CAMGAP1 RHO GTPase-activating protein 27 ARHGAP27 201176 ENSG00000159314 Arhgap27 (MGI:1916903)
chr17 45434261 45490779 17q21.3 17q21.31 611466 PLEKHM1, AP162, KIAA0356, OPTB6 Pleckstrin homology domain-containing protein, family M, member 1 PLEKHM1 9842 ENSG00000225190 Osteopetrosis, autosomal recessive 6, 611497 (3) Plekhm1 (MGI:2443207)
chr17 45784279 45835827 17q12-q22 17q21.31 122561 CRHR1, CRHR Corticotropin releasing hormone receptor 1 CRHR1 1394 ENSG00000120088 Crhr1 (MGI:88498)
chr17 45844889 45847071 17q21.31 17q21.31 608284 IMP5 Intramembrane protease 5 SPPL2C 162540 ENSG00000185294 Sppl2c (MGI:3045264)
chr17 45894381 46028333 17q21.1 17q21.31 157140 MAPT, MTBT1, DDPAC, MSTD Microtubule-associated protein tau MAPT 4137 ENSG00000186868 see 6p21 Dementia, frontotemporal, with or without parkinsonism, 600274 (3), Autosomal dominant; {Parkinson disease, susceptibility to}, 168600 (3), Isolated cases, Multifactorial; Pick disease, 172700 (3), Autosomal dominant, Isolated cases; Supranuclear palsy, progressive, 601104 (3), Autosomal dominant; Supranuclear palsy, progressive atypical, 260540 (3), Autosomal recessive Mapt (MGI:97180)
chr17 45999249 45999693 17q21.1 17q21.31 607067 STH Saitohin STH 246744 ENSG00000256762 in intron 9 of TAU
chr17 46027334 46225373 17q21.31 17q21.31 612452 KANSL1, KIAA1267, MSL1V1, KDVS KAT8 regulatory NSL complex subunit 1 KANSL1 284058 ENSG00000120071 Koolen-De Vries syndrome, 610443 (3), Autosomal dominant Kansl1 (MGI:1923969)
chr17 46295130 46337793 17q21.31-q21.32 17q21.31 616555 LRRC37A Leucine-rich repeat-containing protein 37A LRRC37A 9884 ENSG00000176681
chr17 46512709 47049127 17q21.31-q21.32 17q21.31-q21.32 616556 LRRC37A2 Leucine-rich repeat-containing protein 37A2 LRRC37A2 474170 ENSG00000238083
chr17 46590668 46757463 17q21-q22 17q21.31 601633 NSF N-ethylmaleimide-sensitive factor NSF 4905 ENSG00000073969 Nsf (MGI:104560)
chr17 46762505 46818759 17q21 17q21.31-q21.32 165330 WNT3, INT4, TETAMS Wingless-type MMTV integration site family, member 3 WNT3 7473 ENSG00000108379 mutation identified in 1 TETAMS family ?Tetra-amelia syndrome, 273395 (3), Autosomal recessive Wnt3 (MGI:98955)
chr17 46833200 46886729 17q21 17q21.32 602864 WNT15 Wingless-type MMTV integration site family, member 15 WNT9B 7484 ENSG00000158955 Wnt9b (MGI:1197020)
chr17 46923107 46975518 17q21 17q21.32 604027 GOSR2, GS27, EPM6 Golgi snap receptor complex member 2 GOSR2 9570 ENSG00000108433 Epilepsy, progressive myoclonic 6, 614018 (3), Autosomal recessive Gosr2 (MGI:1927204)
chr17 47117696 47189338 17q12-q23.2 17q21.32 116946 CDC27 Cell division cycle 27 CDC27 996 ENSG00000004897 between ERBB2 and PRKCA Cdc27 (MGI:102685)
chr17 47209016 47227649 17q21.32 17q21.32 160770 MYL4 Myosin, light polypeptide-4, alkali, atrial, embryonic MYL4 4635 ENSG00000198336 mutation identified in 1 ATFB18 family ?Atrial fibrillation, familial, 18, 617280 (3), Autosomal dominant Myl4 (MGI:97267)
chr17 47253841 47312710 17q21.32 17q21.32 173470 ITGB3, GP3A, GT, BDPLT2, BDPLT16 Integrin, beta-3 (platelet glycoprotein IIIa; antigen CD61) ITGB3 3690 ENSG00000259207 in same 260kb fragment as GP2B; PL(A) platelet antigen Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3), Autosomal dominant; Glanzmann thrombasthenia, 273800 (3), Autosomal recessive; {Myocardial infarction, susceptibility to}, 608446 (3); Purpura, posttransfusion (3); Thrombocytopenia, neonatal alloimmune (3) Itgb3 (MGI:96612)
chr17 47522949 47623275 17q21 17q21.32 606793 NPEPPS, PSA, MP100 Aminopeptidase, puromycin-sensitive NPEPPS 9520 ENSG00000141279 Npepps (MGI:1101358)
chr17 47649837 47683637 17q21 17q21.32 602738 KPNB1 Karyopherin beta-1 KPNB1 3837 ENSG00000108424 Kpnb1 (MGI:107532)
chr17 47694064 47712062 17q21.32 17q21.32 608476 TBKBP1, PROSAPIP2, KIAA0775 TBK1-binding protein 1 TBKBP1 9755 ENSG00000198933 Tbkbp1 (MGI:1920424)
chr17 47733243 47746118 17q21.3 17q21.32 604895 TBX21, TBET T-box 21 TBX21 30009 ENSG00000073861 Asthma and nasal polyps, 208550 (3), Autosomal recessive; {Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive Tbx21 (MGI:1888984)
chr17 47807366 47821821 17q21.2 17q21.32 606735 OSBPL7, ORP7 Oxysterol-binding protein-like protein 7 OSBPL7 114881 ENSG00000006025 Osbpl7 (MGI:1918490)
chr17 47823271 47831540 17q21.3 17q21.32 611825 MRPL10, MRPL8 Mitochondrial ribosomal protein L10 MRPL10 124995 ENSG00000159111 Mrpl10 (MGI:1333801)
chr17 47837680 47841332 17q21.3 17q21.32 614966 SCRN2, SES2 Secernin 2 SCRN2 90507 ENSG00000141295 Scrn2 (MGI:1343092)
chr17 47896031 47932270 17q21.32 17q21.32 601801 SP2 Transcription factor Sp2 SP2 6668 ENSG00000167182 Sp2 (MGI:1926162)
chr17 47941522 47949307 17q21.32 17q21.32 603287 PNPO Pyridoxamine 5'-phosphate oxidase PNPO 55163 ENSG00000108439 Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3), Autosomal recessive Pnpo (MGI:2144151)
chr17 47967903 47981785 17q21.31 17q21.32 608202 CDK5RAP3 CDK5 regulatory subunit-associated protein 3 CDK5RAP3 80279 ENSG00000108465 Cdk5rap3 (MGI:1933126)
chr17 48026166 48048085 17q21.32 17q21.32 615526 COPZ2 Coatomer protein complex, subunit zeta-2 COPZ2 51226 ENSG00000005243 Copz2 (MGI:1929008)
chr17 48037160 48037246 17q21.32 17q21.32 613788 MIR152, MIRN152 Micro RNA 152 MIR152 406943
chr17 48048304 48061544 17q21.3 17q21.32 163260 NFE2L1, NRF1 Nuclear factor, erythroid-derived 2-like 1 NFE2L1 4779 ENSG00000082641 Nfe2l1 (MGI:99421)
chr17 48107532 48123600 17q21.32 17q21.32 614906 SNX11 Sorting nexin 11 SNX11 29916 ENSG00000002919 Snx11 (MGI:1921729)
chr17 48133437 48430249 17q21.32 17q21.32 604969 SKAP1, SCAP1, SKAP55 SRC kinase-associated phosphoprotein 1, 55kD SKAP1 8631 ENSG00000141293 Skap1 (MGI:1925723)
chr17 48529444 48530909 17q21-q22 17q21.32 142968 HOXB1, HOX2I, HCFP3 Homeo box-B1 HOXB1 3211 ENSG00000120094 Facial paresis, hereditary congenital, 3, 614744 (3), Autosomal recessive Hoxb1 (MGI:96182)
chr17 48542654 48545030 17q21-q22 17q21.32 142967 HOXB2, HOX2H Homeo box-B2 HOXB2 3212 ENSG00000173917 Hoxb2 (MGI:96183)
chr17 48548869 48590271 17q21-q22 17q21.32 142966 HOXB3, HOX2G Homeo box-B3 HOXB3 3213 ENSG00000120093 Hoxb3 (MGI:96184)
chr17 48575506 48578380 17q21-q22 17q21.32 142965 HOXB4, HOX2F Homeo box-B4 HOXB4 3214 ENSG00000182742 Hoxb4 (MGI:96185)
chr17 48579837 48579946 17q21 17q21.32 610173 MIR10A Micro RNA 10A MIR10A 406902
chr17 48591256 48593740 17q21-q22 17q21.32 142960 HOXB5, HOX2A Homeo box-B5 HOXB5 3215 ENSG00000120075 Hoxb5 (MGI:96186)
chr17 48595735 48604991 17q21-q22 17q21.32 142961 HOXB6, HOX2B Homeo box-B6 HOXB6 3216 ENSG00000108511 Hoxb6 (MGI:96187)
chr17 48607231 48611020 17q21-q22 17q21.32 142962 HOXB7, HOX2C Homeo box-B7 HOXB7 3217 ENSG00000260027 Hoxb7 (MGI:96188)
chr17 48612345 48619530 17q21-q22 17q21.32 142963 HOXB8, HOX2D Homeo box-B8 HOXB8 3218 ENSG00000120068 Hoxb8 (MGI:96189)
chr17 48621155 48626472 17q21-q22 17q21.32 142964 HOXB9, HOX2E Homeo box-B9 HOXB9 3219 ENSG00000170689 Hoxb9 (MGI:96190)
chr17 48632489 48632558 17q21-q22 17q21.32 608632 MIR196A1, MIRN196A1 Micro RNA 196A1 MIR196A1 406972
chr17 48720801 48724757 17q21.3 17q21.32 610787 HOXBAS5, PRAC2 HOXB cluster antisense RNA 5 PRAC2 360205 ENSG00000229637
chr17 48721718 48722519 17q21.3 17q21.32 609819 PRAC1 Prostate, rectum, and colon gene PRAC1 84366 ENSG00000159182
chr17 48724762 48728748 17q21.2 17q21.32 604607 HOXB13 Homeo box B13 HOXB13 10481 ENSG00000159184 Hoxb13 (MGI:107730)
chr17 48762230 48817246 17q21.32 17q21.32 610849 TTLL6 Tubulin tyrosine ligase-like family, member 6 TTLL6 284076 ENSG00000170703 Ttll6 (MGI:2683461)
chr17 48892785 48895870 Chr.17 17q21.32 603192 ATP5G1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C, isoform 1 ATP5MC1 516 ENSG00000159199 Atp5g1 (MGI:107653)
chr17 48908368 48929059 17q21.32 17q21.32 611362 UBE2Z, USE1 Ubiquitin-conjugating enzyme E2Z UBE2Z 65264 ENSG00000159202 Ube2z (MGI:1343160)
chr17 48930095 48944841 17q21.32 17q21.32 610904 SNF8, VPS22, EAP30 SNF8, S. cerevisiae, homolog of SNF8 11267 ENSG00000159210 Snf8 (MGI:1343161)
chr17 48958555 48968592 17q21.3-q22 17q21.32 137240 GIP Gastric inhibitory polypeptide GIP 2695 ENSG00000159224 Gip (MGI:107504)
chr17 48997411 49056144 17q21.3 17q21.32 608288 IGF2BP1, IMP1, CRDBP, ZBP1 Insulin-like growth factor 2 mRNA-binding protein 1 IGF2BP1 10642 ENSG00000159217 Igf2bp1 (MGI:1890357)
chr17 49120346 49170721 17q21.2 17q21.32 111730 B4GALGT2, GALGT2, SD Beta-1,4-N-acetyl-galactosaminyl transferase 2 B4GALNT2 124872 ENSG00000167080 B4galnt2 (MGI:1342058)
chr17 49206233 49210573 17q21 17q21.32 139391 GNGT2 Guanine nucleotide-binding protein, gamma-transducing activity polypeptide 2 GNGT2 2793 ENSG00000167083 Gngt2 (MGI:893584)
chr17 49210226 49223224 17q21.3 17q21.32 606363 NESH NESH protein ABI3 51225 ENSG00000108798 Abi3 (MGI:1913860)
chr17 49289205 49362472 17q21.32 17q21.32-q21.33 613907 ZNF652, KIAA0924 Zinc finger protein 652 ZNF652 22834 ENSG00000198740 Zfp652 (MGI:2442221)
chr17 49404047 49414904 17q21 17q21.33 176705 PHB Prohibitin PHB 5245 ENSG00000167085 {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant Phb (MGI:97572)
chr17 49495292 49515019 17q21-q22 17q21.33 162010 NGFR, TNFRSF16 Nerve growth factor receptor NGFR 4804 ENSG00000064300 distal to APL breakpoint, q21; < 0.5mb from HOX2 Ngfr (MGI:97323)
chr17 49575935 49583809 17q21.33 17q21.33 604636 NXPH3, NPH3 Neuroexophilin 3 NXPH3 11248 ENSG00000182575 Nxph3 (MGI:1336188)
chr17 49598883 49678162 17q21.33 17q21.33 602650 SPOP Speckle-type POZ protein SPOP 8405 ENSG00000121067 Spop (MGI:1343085)
chr17 49700933 49708172 17q21.33 17q21.33 610790 SLC35B1, UGTREL1 Solute carrier family 35, member B1 SLC35B1 10237 ENSG00000121073 Slc35b1 (MGI:1343133)
chr17 49788618 49829095 17q21.32 17q21.33 609880 KAT7, MYST2, HBO1 K(lysine) acetyltransferase 7 KAT7 11143 ENSG00000136504 Kat7 (MGI:2182799)
chr17 49838308 49848016 17q21.3 17q21.33 607833 RAC4, PPTC, HK1 Tachykinin 4 TAC4 255061 ENSG00000176358
chr17 49968969 49974958 17q21.3-q22 17q21.33 601911 DLX4, DLX7, DLX8, OFC15 Distal-less homeo box-4 DLX4 1748 ENSG00000108813 mutation identified in 1 OFC15 family ?Orofacial cleft 15, 616788 (3), Autosomal dominant Dlx4 (MGI:94904)
chr17 49990004 49995223 17q21.3-q22 17q21.33 600525 DLX3, TDO, AI4 Distal-less homeo box-3 DLX3 1747 ENSG00000064195 Amelogenesis imperfecta, type IV, 104510 (3), Autosomal dominant; Trichodontoosseous syndrome, 190320 (3), Autosomal dominant Dlx3 (MGI:94903)
chr17 50055967 50090484 17q21.33 17q21.33 605025 ITGA3, CD49C, GAPB3, ILNEB Integrin, alpha-3 ITGA3 3675 ENSG00000005884 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3), Autosomal recessive Itga3 (MGI:96602)
chr17 50094736 50111368 17q21.33 17q21.33 602525 PDK2 Pyruvate dehydrogenase kinase, isoenzyme 2 PDK2 5164 ENSG00000005882 Pdk2 (MGI:1343087)
chr17 50133734 50151026 17q21.33 17q21.33 603325 PPP1R9B, SPINO Protein phosphatase 1, regulatory subunit 9B PPP1R9B 84687 ENSG00000108819 Ppp1r9b (MGI:2387581)
chr17 50165516 50175931 17q12-q21.33 17q21.33 600119 SGCA, ADL, DAG2, LGMD2D, DMDA2 Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin) SGCA 6442 ENSG00000108823 Muscular dystrophy, limb-girdle, type 2D, 608099 (3), Autosomal recessive Sgca (MGI:894698)
chr17 50171427 50172475 17q21.33 17q21.33 608101 HILS1 Spermatid-specific linker histone H1-like protein HILS1 373861
chr17 50184095 50201648 17q21.31-q22 17q21.33 120150 COL1A1, OI1, OI2, OI3, OI4, EDSARTH1 Collagen I, alpha-1 polypeptide COL1A1 1277 ENSG00000108821 fused with PDGFB in DFPB {Bone mineral density variation QTL, osteoporosis}, 166710 (3), Autosomal dominant; Caffey disease, 114000 (3), Autosomal dominant; Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3), Autosomal dominant; Osteogenesis imperfecta, type I, 166200 (3), Autosomal dominant; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant Col1a1 (MGI:88467)
chr17 50346031 50361184 17q21.3-q22 17q21.33 608125 XYLT2, XT2, SOS Xylosyltransferase 2 XYLT2 64132 ENSG00000015532 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive; Spondyloocular syndrome, 605822 (3), Autosomal recessive Xylt2 (MGI:2444797)
chr17 50367866 50373200 17q21.3-q22 17q21.33 611837 MRPL27 Mitochondrial ribosomal protein L27 MRPL27 51264 ENSG00000108826 Mrpl27 (MGI:2137224)
chr17 50373219 50381478 17q21.3 17q21.33 610885 EME1 Essential meiotic endonuclease 1, S. pombe, homolog of, 1 EME1 146956 ENSG00000154920 Eme1 (MGI:3576783)
chr17 50381232 50397552 17q21.33 17q21.33 614854 LRRC59, p34 Leucine-rich repeat-containing protein 59 LRRC59 55379 ENSG00000108829 Lrrc59 (MGI:2138133)
chr17 50426157 50474844 17q21.33 17q21.33 610465 ACSF2, FLJ20920 Acyl-CoA synthetase family member 2 ACSF2 80221 ENSG00000167107 Acsf2 (MGI:2388287)
chr17 50464491 50469880 17q21.33 17q21.33 602178 CHAD Chondroadherin CHAD 1101 ENSG00000136457 Chad (MGI:1096866)
chr17 50507777 50531501 17q21 17q21.33 609835 MYCBPAP, AMAP1 MYCBP-associated protein MYCBPAP 84073 ENSG00000136449 Mycbpap (MGI:2388726)
chr17 50532686 50543749 Chr.17 17q21.33 607264 EPN3 Epsin 3 EPN3 55040 ENSG00000049283 Epn3 (MGI:1919139)
chr17 50547088 50555851 17q21.33 17q21.33 613939 SPATA20, SSP411 Spermatogenesis-associated protein 20 SPATA20 64847 ENSG00000006282 Spata20 (MGI:2183449)
chr17 50560932 50629624 17q22 17q21.33 604065 CACNA1G, SCA42 Calcium channel, voltage-dependent, T type, alpha-1G subunit CACNA1G 8913 ENSG00000006283 Spinocerebellar ataxia 42, 616795 (3), Autosomal dominant Cacna1g (MGI:1201678)
chr17 50634842 50691703 17q22 17q21.33 604323 ABCC3, CMOAT2, MRP3, MLP2 ATP-binding cassette, sub-family C, member 3 ABCC3 8714 ENSG00000108846 Abcc3 (MGI:1923658)
chr17 50719543 50756212 17q21.3 17q21.33 609434 LUC7L3, CROP, LUC7A Luc7, S. cerevisiae, homolog of, 3 LUC7L3 51747 ENSG00000108848 Luc7l3 (MGI:1914934)
chr17 50834649 50842352 17q21.3 17q21.33 610895 WFIKKN2, WFIKKNRP WAP, fillistatin, immunoglobulin, Kunitz, and NTR domains-containing protein 2 WFIKKN2 124857 ENSG00000173714 Wfikkn2 (MGI:2669209)
chr17 50862222 50867977 17q21 17q21.33 605523 TOB1, TOB Transducer of ERBB2, 1 TOB1 10140 ENSG00000141232 Tob1 (MGI:1349721)
chr17 50962173 51120864 17q21.33 17q21.33 605430 SPAG9, SYD1, KIAA0516 Sperm-associated antigen 9 SPAG9 9043 ENSG00000008294 Spag9 (MGI:1918084)
chr17 51153558 51162088 17q21.3 17q21.33 156490 NME1, NM23 Non-metastatic cells 1, protein (NM23A) expressed in NME1 4830 ENSG00000239672 Neuroblastoma, 256700 (3), Autosomal dominant, Isolated cases Nme1 (MGI:97355)
chr17 51165434 51171743 17q21.3 17q21.33 156491 NME2 Non-metastatic cells 2, protein (NM23) expressed in NME2 4831 ENSG00000243678 Nme2 (MGI:97356)
chr17 51260535 51297932 17q21.33 17q21.33 612816 UTP18 UTP18, S. cerevisiae, homolog of UTP18 51096 ENSG00000011260 Utp18 (MGI:1923402)
chr17 51630312 52160016 17q21.33-q22 17q21-q22 604642 CA10, CARPX Carbonic anhydrase X CA10 56934 ENSG00000154975 Car10 (MGI:1919855)
chr17 52100000 59500000 17q22 151441 BCL5 B-cell CLL/lymphoma-5 BCL5 603
chr17 53822877 53825211 17q22 17q22 615142 KIF2B Kinesin family member 2B KIF2B 84643 ENSG00000141200 Kif2b (MGI:1920720)
chr17 54900690 54961966 17q22 17q22 604701 TOM1L1 TOM1-like 1 TOM1L1 10040 ENSG00000141198 Tom1l1 (MGI:1919193)
chr17 54951897 54968784 17q22 17q22 603648 COX11 Cytochrome c oxidase, subunit 11 COX11 1353 ENSG00000166260 pseudogene on 6p23-p22 Cox11 (MGI:1917052)
chr17 54968727 55164284 17q22 17q22 610415 STXBP4, SYNIP Syntaxin-binding protein 4 STXBP4 252983 ENSG00000166263 Stxbp4 (MGI:1342296)
chr17 55264959 55325175 17q22 17q22 142385 HLF Hepatic leukemia factor HLF 3131 ENSG00000108924 Hlf (MGI:96108)
chr17 55392612 55421979 17q22 17q22 604467 MMD, MMD1, PAQR11 Monocyte-to-macrophage differentiation-associated protein MMD 23531 ENSG00000108960 Mmd (MGI:1914718)
chr17 55719626 55732120 17q22 17q22 616334 TMEM100 Transmembrane protein 100 TMEM100 55273 ENSG00000166292 Tmem100 (MGI:1915138)
chr17 55750978 55845000 17q21-q22 17q22 606055 PCTP Phosphatidylcholine transfer protein PCTP 58488 ENSG00000141179 Pctp (MGI:107375)
chr17 56593698 56595589 17q22 17q22 602991 NOG, SYM1, SYNS1A Noggin, mouse, homolog of NOG 9241 ENSG00000183691 Brachydactyly, type B2, 611377 (3), Autosomal dominant; Multiple synostoses syndrome 1, 186500 (3), Autosomal dominant; Stapes ankylosis with broad thumbs and toes, 184460 (3), Autosomal dominant; Symphalangism, proximal, 1A, 185800 (3), Autosomal dominant; Tarsal-carpal coalition syndrome, 186570 (3), Autosomal dominant Nog (MGI:104327)
chr17 56834098 56869566 17q22 17q22 601440 DGKE, NPHS7, AHUS7 Diacylglycerol kinase, epsilon, 64-kD DGKE 8526 ENSG00000153933 {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3), Autosomal recessive; Nephrotic syndrome, type 7, 615008 (3), Autosomal recessive Dgke (MGI:1889276)
chr17 56887908 56914047 17q23.1 17q22 600453 TRIM25, ZNF147, EFP Tripartite motif-containing 25 TRIM25 7706 ENSG00000121060 300kb from MPO Trim25 (MGI:102749)
chr17 56938198 56961049 17q22-q23 17q22 600272 COIL, CLN80 Coilin p80 COIL 8161 ENSG00000121058 Coil (MGI:104842)
chr17 57085191 57121348 Chr.17 17q22 602449 AKAP1, AKAP149, SAKAP84 A-kinase anchor protein 1, 149kD AKAP1 8165 ENSG00000121057 Akap1 (MGI:104729)
chr17 57255850 57684688 17q22 17q22 607897 MSI2 Musashi, Drosophila, homolog of, 2 MSI2 124540 ENSG00000153944 Msi2 (MGI:1923876)
chr17 57838925 57850071 17q22-q23 17q22 611985 MRPS23 Mitochondrial ribosomal protein S23 MRPS23 51649 ENSG00000181610 Mrps23 (MGI:1928138)
chr17 57971546 57988263 17q22 17q22 606747 VEZF1, ZNF161 Vascular endothelial zinc finger 1 VEZF1 7716 ENSG00000136451 Vezf1 (MGI:1313291)
chr17 58000918 58007345 17q21.3-q22 17q22 600812 SRSF1, SFRS1, ASF, SF2, SRp30a Splicing factor, arginine/serine-rich 1 (splicing factor 2, alternate splicing factor) SRSF1 6426 ENSG00000136450 Srsf1 (MGI:98283)
chr17 58083418 58090256 17q23.2 17q22 608942 DYNLL2, DLC2 Dynein, light chain, LC8-type 2 DYNLL2 140735 ENSG00000264364 Dynll2 (MGI:1915347)
chr17 58192723 58205173 17q23.1 17q22 131399 EPX, EPXD Eosinophil peroxidase EPX 8288 ENSG00000121053 [Eosinophil peroxidase deficiency], 261500 (3), Autosomal recessive Epx (MGI:107569)
chr17 58205435 58219604 17q23 17q22 609883 MKS1, MKS, BBS13, JBTS28 MKS1 gene MKS1 54903 ENSG00000011143 frequent in Finland Bardet-Biedl syndrome 13, 615990 (3), Autosomal recessive; Joubert syndrome 28, 617121 (3), Autosomal recessive; Meckel syndrome 1, 249000 (3), Autosomal recessive Mks1 (MGI:3584243)
chr17 58238425 58268517 17q23.1 17q22 150205 LPO Lactoperoxidase LPO 4025 ENSG00000167419 Lpo (MGI:1923363)
chr17 58269855 58280934 17q23.1 17q22 606989 MPO Myeloperoxidase MPO 4353 ENSG00000005381 translocated in t(15;17)(q22;q11.2) {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant; {Lung cancer, protection against, in smokers} (3); Myeloperoxidase deficiency, 254600 (3), Autosomal recessive Mpo (MGI:97137)
chr17 58301226 58329029 17q23.2 17q22 610764 BZRAP1, PRAX1, RIMBP1, KIAA0612 Benzodiazapine receptor (peripheral)-associated protein 1 TSPOAP1 9256 ENSG00000005379 Tspoap1 (MGI:2450877)
chr17 58331231 58331317 17q22 17q22 615657 MIR142 Micro RNA 142 MIR142 406934
chr17 58352499 58418893 17q23.2 17q22 612482 RNF43, RNF124, SSPCS Ring finger protein 43 RNF43 54894 ENSG00000108375 Sessile serrated polyposis cancer syndrome, 617108 (3), Autosomal dominant Rnf43 (MGI:2442609)
chr17 58489531 58518108 Chr.17 17q22 603559 MTMR4 Myotubularin-related protein 4 MTMR4 9110 ENSG00000108389 Mtmr4 (MGI:2180699)
chr17 58520249 58540817 17q23 17q22 603696 SEPT4, PNUTL2 Septin 4 SEPT4 5414 ENSG00000108387 Sept4 (MGI:1270156)
chr17 58556676 58692054 17q22 17q22 605792 TEX14, SPGF23 Testis-expressed gene 14 TEX14 56155 ENSG00000121101 mutation identified in 1 SPGF23 family ?Spermatogenic failure 23, 617707 (3), Autosomal recessive Tex14 (MGI:1933227)
chr17 58692139 58734341 17q22 17q22 602774 RAD51C, FANCO, BROVCA3 RAD51, S. cerevisiae, homolog of, C RAD51C 5889 ENSG00000108384 {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3); Fanconi anemia, complementation group O, 613390 (3), Autosomal recessive Rad51c (MGI:2150020)
chr17 58968009 59106963 17q22-q23 17q22 605073 TRIM37, MUL, KIAA0898 Tripartite motif-containing 37 TRIM37 4591 ENSG00000108395 Mulibrey nanism, 253250 (3), Autosomal recessive Trim37 (MGI:2153072)
chr17 59109858 59155438 17q22 17q22 616674 SKA2, FAM33A Spindle- and kinetochore-associated complex, subunit 2 SKA2 348235 ENSG00000182628 Ska2 (MGI:1913390)
chr17 59151135 59151220 17q22 17q22 615675 MIR301A, MIR301 Micro RNA 301A MIR301A 407027
chr17 59155354 59206708 17q22 17q22 615920 PRR11 Proline-rich protein 11 PRR11 55771 ENSG00000068489 Prr11 (MGI:2444496)
chr17 59210009 59215249 17q22 17q22 613175 C17orf71, SMG8 Chromosome 17 open reading frame 71 SMG8 55181 ENSG00000167447 Smg8 (MGI:1921383)
chr17 59220466 59275969 17q23.2 17q22 616317 GDPD1, GDE4 Glycerophosphodiester phosphodiesterase domain-containing protein 1 GDPD1 284161 ENSG00000153982 Gdpd1 (MGI:1913819)
chr17 59331691 59401733 17q23.2 17q22 609723 YPEL2 Yippee-like 2 YPEL2 388403 ENSG00000175155 Ypel2 (MGI:1925114)
chr17 59500000 64600000 17q23 609656 BSZQTL Bone size quantitative trait locus 1 100188793 {Bone size QTL}, 609656 (2)
chr17 59500000 63100000 17q23.1-q23.2 613355 DEL17q23.1q23.2, C17DELq23.1q23.2 Chromosome 17q23.1-q23.2 deletion syndrome Chromosome 17q23.1-q23.2 deletion syndrome, 613355 (4), Isolated cases
chr17 59500000 63100000 17q23.1-q23.2 613618 DUP17q23.1q23.2, C17DUPq23.1q23.2 Chromosome 17q23.1-q23.2 duplication syndrome 2.2 Mb contiguous gene duplication syndrome Chromosome 17q23.1-q23.2 duplication syndrome, 613618 (4), Autosomal dominant
chr17 59500000 83257441 17q23-qter 170200 PEPE Peptidase E PEPE 5185
chr17 59565524 59608351 17q23.3 17q23.1 607570 DHX40, DDX40 DEAH (Asp-Glu-Ala-His) box polypeptide 40 DHX40 79665 ENSG00000108406 Dhx40 (MGI:1914737)
chr17 59619688 59696955 17q23 17q23.1 118955 CLTC, MRD56 Clathrin, heavy polypeptide (Hc) CLTC 1213 ENSG00000141367 fusion gene with TFE3 in renal adenocarcinoma Mental retardation, autosomal dominant 56, 617854 (3) Cltc (MGI:2388633)
chr17 59697305 59707625 17q23.1 17q23.1 608625 PTRH2, BIT1, IMNEPD Peptidyl-tRNA hydrolase 2 PTRH2 51651 ENSG00000141378 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (3), Autosomal recessive Ptrh2 (MGI:2444848)
chr17 59707464 59842254 17q23.1 17q23.1 611753 VMP1, TMEM49, EPG3 Vacuole membrane protein 1 VMP1 81671 ENSG00000062716 Vmp1 (MGI:1923159)
chr17 59841265 59841336 17q23.1 17q23.1 611020 MIR21, MIRN21 Micro RNA 21 MIR21 406991
chr17 59859466 59892947 Chr.17 17q23.1 607344 TUBD1, TUBD Tubulin, delta-1 TUBD1 51174 ENSG00000108423 Tubd1 (MGI:1891826)
chr17 59893045 59950425 17q23.1 17q23.1 608938 RPS6KB1, S6K1 Ribosomal protein S6 kinase, 70kD RPS6KB1 6198 ENSG00000108443 Rps6kb1 (MGI:1270849)
chr17 59952361 59964755 17q23.1 17q23.1 615172 RNFT1 RING finger protein, transmembrane 1 RNFT1 51136 ENSG00000189050 Rnft1 (MGI:1924142)
chr17 60083565 60088466 17q23 17q23.1 615772 LNCDC, LOC615638 Long noncoding RNA, dendritic cell WFDC21P 645638
chr17 60149935 60179020 17q23 17q23.1 114760 CA4, RP17 Carbonic anhydrase IV CA4 762 ENSG00000167434 Retinitis pigmentosa 17, 600852 (3), Autosomal dominant Car4 (MGI:1096574)
chr17 60177230 60422469 17q22 17q23.1-q23.2 607740 USP32, USP10 Ubiquitin-specific protease 32 USP32 84669 ENSG00000170832 Usp32 (MGI:2144475)
chr17 60200000 76800000 17q23.2-q25.1 612967 BMIQ15 Body mass index quantitative trait locus 15 100302719 associated with rs228883 and rs1005651 [Body mass index QTL 15], 612967 (2)
chr17 60443148 60526239 17q22-q23 17q23.2 605324 APPBP2, PAT1 Amyloid beta precursor protein-binding protein 2 APPBP2 10513 ENSG00000062725 Appbp2 (MGI:1914134)
chr17 60600182 60666279 17q22-q23 17q23.2 605100 PPM1D, WIP1, IDDGIP Protein phosphatase, magnesium-dependent, 1, delta isoform PPM1D 8493 ENSG00000170836 amplified in breast cancer Breast cancer, somatic, 114480 (3); Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450 (3), Autosomal dominant Ppm1d (MGI:1858214)
chr17 61399895 61409465 17q23 17q23.2 600747 TBX2 T-box 2 TBX2 6909 ENSG00000121068 Tbx2 (MGI:98494)
chr17 61452417 61485109 17q21-q22 17q23.2 601719 TBX4, ICPPS T-box 4 TBX4 9496 ENSG00000121075 Ischiocoxopodopatellar syndrome, 147891 (3), Autosomal dominant Tbx4 (MGI:102556)
chr17 61679185 61864119 17q22 17q23.2 605882 BRIP1, BACH1, FANCJ BRCA1-associated C-terminal helicase 1 BRIP1 83990 ENSG00000136492 ?or 17q23 Breast cancer, early-onset, 114480 (3), Autosomal dominant; Fanconi anemia, complementation group J, 609054 (3) Brip1 (MGI:2442836)
chr17 61865366 61928031 17q23.2 17q23.2 611346 INTS2, INT2, KIAA1287 Integrator complex subunit 2 INTS2 57508 ENSG00000108506 Ints2 (MGI:1917672)
chr17 61942604 62065982 17q22-q23 17q23.2 603808 MED13, THRAP1, TRAP240 Mediator complex subunit 13 MED13 9969 ENSG00000108510 Med13 (MGI:3029632)
chr17 62470907 62615480 17q23.2 17q23.2 608439 TLK2 Tousled-like kinase 2 TLK2 11011 ENSG00000146872 Tlk2 (MGI:1346023)
chr17 62627400 62693600 17q23.2 17q23.2 612264 MRC2, ENDO180, UPARAP, CD280 Mannose receptor, C-type, 2 MRC2 9902 ENSG00000011028 Mrc2 (MGI:107818)
chr17 62701313 62808380 17q23.2 17q23.2 613337 MARCH10 Membrane-associated RING-CH finger protein 10 MARCH10 162333 ENSG00000173838 March10 (MGI:2443469)
chr17 62966522 63427705 17q23.3 17q23.2-q23.3 615047 TANC2, KIAA1636 Tetratricopeptide repeat-, ankyrin repeat-, and coiled-coil-containing protein 2 TANC2 26115 ENSG00000170921 Tanc2 (MGI:2444121)
chr17 63432302 63446360 17q11-qter 17q23.3 600019 CYB561 Cytochrome b-561 CYB561 1534 ENSG00000008283 Cyb561 (MGI:103253)
chr17 63477060 63498379 17q23 17q23.3 106180 ACE, DCP1, ACE1, MVCD3, ICH Angiotensin I converting enzyme (dipeptidyl carboxypeptidase-1) ACE 1636 ENSG00000159640 [Angiotensin I-converting enzyme, benign serum increase] (3); {Microvascular complications of diabetes 3}, 612624 (3); {Myocardial infarction, susceptibility to} (3); Renal tubular dysgenesis, 267430 (3), Autosomal recessive; {SARS, progression of} (3); {Stroke, hemorrhagic}, 614519 (3) Ace (MGI:87874)
chr17 63523333 63548976 17q23.3 17q23.3 608168 KCNH6, HERG2 Potassium channel, voltage-gated, subfamily H, member 6 KCNH6 81033 ENSG00000173826 Kcnh6 (MGI:2684139)
chr17 63600871 63608364 17q22-q24.2 17q23.3 612958 TACO1, CCDC44 Translational activator of mitochondrially encoded cytochrome c oxidase subunit I TACO1 51204 ENSG00000136463 Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial Taco1 (MGI:1917457)
chr17 63622208 63696309 17q23.3 17q23.3 602539 MAP3K3, MEKK3, MAPKKK3 Mitogen-activated kinase kinase kinase 3 MAP3K3 4215 ENSG00000198909 Map3k3 (MGI:1346874)
chr17 63702831 63741969 17q23.3 17q23.3 608626 STRADA, STRAD, LYK5 STE20-related kinase adaptor alpha STRADA 92335 ENSG00000266173 Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive Strada (MGI:1919399)
chr17 63773855 63819316 17q23.3 17q23.3 613369 DDX42, RHELP DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 DDX42 11325 ENSG00000198231 Ddx42 (MGI:1919297)
chr17 63827409 63832026 17q24-q25 17q23.3 601681 PSMC5, TRIP1 Proteasome (prosome, macropain) 26S subunit, ATPase, 5 PSMC5 5705 ENSG00000087191 Psmc5 (MGI:105047)
chr17 63832080 63842990 17q23-q24 17q23.3 601736 SMARCD2, BAF60B, SGD2 SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily d, member 2 SMARCD2 6603 ENSG00000108604 Specific granule deficiency 2, 617475 (3), Autosomal recessive Smarcd2 (MGI:1933621)
chr17 63857015 63864378 17q23.3 17q23.3 612756 TCAM1 Testicular cell adhesion molecule 1 TCAM1P 146771
chr17 63872011 63873728 17q22-q24 17q23.3 118820 CSH2, CSB Chorionic somatomammotropin B CSH2 1443 ENSG00000213218
chr17 63880211 63881941 17q22-q24 17q23.3 139240 GH2, GHV Growth hormone-2 GH2 2689 ENSG00000136487
chr17 63894907 63896660 17q22-q24 17q23.3 150200 CSH1, CSA, PL Chorionic somatomammotropin hormone-1 CSH1 1442 ENSG00000136488 [Placental lactogen deficiency] (1)
chr17 63909596 63911327 17q22-q24 17q23.3 603515 CSHL1, CSL Chorionic somatomammotropin hormone-like 1 CSHL1 1444 ENSG00000204414 Gh (MGI:95707)
chr17 63917192 63918851 17q22-q24 17q23.3 139250 GH1, GHN, IGHD1B Growth hormone-1 GH1 2688 ENSG00000259384 5'-GH1-CSHP1-CSH1-GH2-CSH2-3' Growth hormone deficiency, isolated, type IA, 262400 (3), Autosomal recessive; Growth hormone deficiency, isolated, type IB, 612781 (3); Growth hormone deficiency, isolated, type II, 173100 (3), Autosomal dominant; Kowarski syndrome, 262650 (3), Autosomal recessive
chr17 63928735 63932353 17q23 17q23.3 147245 CD79B, IGB, B29, AGM6 CD79B antigen CD79B 974 ENSG00000007312 Agammaglobulinemia 6, 612692 (3), Autosomal recessive Cd79b (MGI:96431)
chr17 63938553 63972917 17q23.1-q25.3 17q23.3 603967 SCN4A, HYPP, NAC1A, HOKPP2, CMS16 Sodium channel, voltage-gated, type IV, alpha polypeptide SCN4A 6329 ENSG00000007314 21.5kb from GH1 Hyperkalemic periodic paralysis, type 2, 170500 (3), Autosomal dominant; Hypokalemic periodic paralysis, type 2, 613345 (3), Autosomal dominant; Myasthenic syndrome, congenital, 16, 614198 (3), Autosomal recessive; Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3), Autosomal dominant; Paramyotonia congenita, 168300 (3), Autosomal dominant Scn4a (MGI:98250)
chr17 64002594 64020633 17q23-q25 17q23.3 146630 ICAM2 Intercellular adhesion molecule-2 ICAM2 3384 ENSG00000108622 Icam2 (MGI:96394)
chr17 64039141 64132468 17q23.3 17q23.3 604033 ERN1, IRE1, IRE1A Endoplasmic reticulum-to-nucleus signaling 1 ERN1 2081 ENSG00000178607 Ern1 (MGI:1930134)
chr17 64319414 64413843 17q23 17q23.3 173445 PECAM1 Platelet/endothelial cell adhesion molecule (CD31 antigen) PECAM1 5175 ENSG00000261371 Pecam1 (MGI:97537)
chr17 64477784 64497065 17q23-q24 17q23.3 604983 POLG2, POLGB, PEOA4 Polymerase, DNA, gamma-2 POLG2 11232 ENSG00000256525 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3), Autosomal dominant Polg2 (MGI:1354947)
chr17 64498253 64507037 17q23-q25 17q23.3 180630 DDX5, HLR1, G17P1 DEAD/H box-5 (RNA helicase, 68kD) DDX5 1655 ENSG00000108654 near BRCA1 Ddx5 (MGI:105037)
chr17 64542281 64662267 17q23.3-q24.1 17q23.3-q24.1 605532 SMURF2 SMAD-specific E3 ubiquitin protein ligase 2 SMURF2 64750 ENSG00000108854 Smurf2 (MGI:1913563)
chr17 64600000 72900000 17q24 115660 CTRCT7, CCA1 Cataract 7 CCA1 878 Cataract 7, 115660 (2), Autosomal dominant
chr17 64600000 72900000 17q24 616425 SRXY10 46,XY sex reversal 10 deletion of 32.5kb XYSR regulatory region upstream of SOX9 46XY sex reversal 10, 616425 (4), Autosomal dominant
chr17 64854133 64919490 17q24.1 17q24.1 616557 LRRC37A3 Leucine-rich repeat-containing protein 37A3 LRRC37A3 374819 ENSG00000176809
chr17 65009288 65056801 17q24.3 17q24.1 604406 GNA13 Guanine nucleotide-binding protein, alpha-13 GNA13 10672 ENSG00000120063 Gna13 (MGI:95768)
chr17 65137337 65227702 17q23-q24 17q24.1 604067 RGS9, PERRS Regulator of G protein signaling 9 RGS9 8787 ENSG00000108370 Bradyopsia, 608415 (3) Rgs9 (MGI:1338824)
chr17 65528562 65561621 17q24 17q24.1 604025 AXIN2, ODCRCS Axis inhibitor 2 (conductin, mouse, homolog of) AXIN2 8313 ENSG00000168646 Colorectal cancer, somatic, 114500 (3); Oligodontia-colorectal cancer syndrome, 608615 (3), Autosomal dominant Axin2 (MGI:1270862)
chr17 66200000 72900000 17q24.2-q24.3 135400 HTGH, DEL17q24 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia (chromosome 17q24 microdeletion syndrome) Hypertrichosis terminalis, generalized, with or without gingival hyperplasia, 135400 (4), Autosomal recessive
chr17 66212028 66229437 17q23-qter 17q24.2 138700 APOH Apolipoprotein H (beta-2-glycoprotein I) APOH 350 ENSG00000091583 Apoh (MGI:88058)
chr17 66302639 66810743 17q22-q23.2 17q24.2 176960 PRKCA, PKCA Protein kinase C, alpha polypeptide PRKCA 5578 ENSG00000154229 cen-COL1A1-PKCA-GH1 Pituitary tumor, invasive (3) Prkca (MGI:97595)
chr17 66877272 66885277 17q24 17q24.2 606405 CACNG5 Calcium channel, voltage-dependent, gamma-5 subunit CACNG5 27091 ENSG00000075429 Cacng5 (MGI:2157946)
chr17 67044535 67056796 17q24 17q24.2 114209 CACNG1, CACNLG Calcium channel, voltage-dependent, gamma-1 subunit CACNG1 786 ENSG00000108878 Cacng1 (MGI:1206582)
chr17 67070437 67245988 17q24.2 17q24.2 606699 HELZ, KIAA0054, HUMORF5 Helicase with zinc finger domain HELZ 9931 ENSG00000198265 Helz (MGI:1925705)
chr17 67337915 67366626 17q24.2 17q24.2 604450 PSMD12, P55, STISS Proteasome 26S subunit, non-ATPase, 12 PSMD12 5718 ENSG00000197170 Stankiewicz-Isidor syndrome, 617516 (3), Autosomal dominant Psmd12 (MGI:1914247)
chr17 67377280 67697262 17q24.2 17q24.2 605134 PITPNC1, RDGBB Phosphatidylinositol transfer protein, cytoplasmic, 1 PITPNC1 26207 ENSG00000154217
chr17 67717832 67744207 17q24.2 17q24.2 615366 NOL11 Nucleolar protein 11 NOL11 25926 ENSG00000130935 Nol11 (MGI:1916229)
chr17 67825516 67984377 17q24 17q24.2 601819 BPTF, FALZ, FAC1, NURF301, NEDDFL Bromodomain PHD finger transcription factor BPTF 2186 ENSG00000171634 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3), Autosomal dominant Bptf (MGI:2444008)
chr17 68035601 68046858 17q23-q24 17q24.2 600685 KPNA2, RCH1, QIP2 Karyopherin alpha-2 KPNA2 3838 ENSG00000182481 Kpna2 (MGI:103561)
chr17 68205485 68257163 17q24.2 17q24.2 615169 AMZ2 Archaelysin family metallopeptidase 2 AMZ2 51321 ENSG00000196704
chr17 68259181 68452004 17q24.2 17q24.2 610008 ARSG, KIAA1001 Arylsulfatase G ARSG 22901 ENSG00000141337 Arsg (MGI:1921258)
chr17 68413622 68551315 17q23-q24 17q24.2 188830 PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1 Protein kinase, cAMP-dependent, regulatory, type I, alpha PRKAR1A 5573 ENSG00000108946 fused with RET to form PTC2 Acrodysostosis 1, with or without hormone resistance, 101800 (3), Autosomal dominant; Adrenocortical tumor, somatic (3); Carney complex, type 1, 160980 (3), Autosomal dominant; Myxoma, intracardiac, 255960 (3), Autosomal dominant; Pigmented nodular adrenocortical disease, primary, 1, 610489 (3), Autosomal dominant Prkar1a (MGI:104878)
chr17 68530275 68600953 17q24.2 17q24.2 611062 FAM20A, AIGFS, AI1G Family with sequence similarity 20, member A FAM20A 54757 ENSG00000108950 Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3), Autosomal recessive Fam20a (MGI:2388266)
chr17 68867284 68955425 17q24.2 17q24.2 612505 ABCA8, KIAA0822 ATP-binding cassette, subfamily A, member 8 ABCA8 10351 ENSG00000141338 Abca8b (MGI:1351668)
chr17 68974631 69078977 17q24.2 17q24.2 612507 ABCA9 ATP-binding cassette, subfamily A, member 9 ABCA9 10350 ENSG00000154258 Abca9 (MGI:2386796)
chr17 69062043 69141926 17q24.2 17q24.2-q24.3 612504 ABCA6 ATP-binding cassette, subfamily A, member 6 ABCA6 23460 ENSG00000154262 Abca6 (MGI:1923434)
chr17 69100000 76800000 17q24.3-q25.1 261800 PRBNS Pierre Robin syndrome 100301572 between D17S795 and D17S929 Pierre Robin syndrome, 261800 (2), Autosomal recessive
chr17 69100000 76800000 17q24.3-q25.1 278850 SRXX2, DUP17q24.3 46XX sex reversal 2 duplication or triplication of 68kb XXSR regulatory region upstream of SOX9 46XX sex reversal 2, 278850 (4), Autosomal dominant
chr17 69100000 72900000 17q24.3 614834 TTPP3 Thyrotoxic periodic paralysis, susceptibility to, 3 112272595 associated with rs312691 {Thyrotoxic periodic paralysis, susceptibility to, 3}, 614834 (2)
chr17 69148006 69244814 17q24.2 17q24.3 612508 ABCA10 ATP-binding cassette, subfamily A, member 10 ABCA10 10349 ENSG00000154263
chr17 69244434 69327181 17q24.2 17q24.3 612503 ABCA5, KIAA1888 ATP-binding cassette, subfamily A, member 5 ABCA5 23461 ENSG00000154265 Abca5 (MGI:2386607)
chr17 69414696 69553860 17q24.3 17q24.3 601254 MAP2K6, PRKMK6, MKK6, MEK6, MAPKK6 Mitogen-activated protein kinase kinase 6 MAP2K6 5608 ENSG00000108984 Map2k6 (MGI:1346870)
chr17 70075224 70135607 17q25 17q24.3 605722 KCNJ16, KIR5.1 Potassium channel, inwardly rectifying, subfamily J, member 16 KCNJ16 3773 ENSG00000153822 Kcnj16 (MGI:1314842)
chr17 70169534 70180043 17q23.1-q24.2 17q24.3 600681 KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9 Potassium channel, inwardly rectifying, subfamily J, member 2 KCNJ2 3759 ENSG00000123700 Andersen syndrome, 170390 (3), Autosomal dominant; Atrial fibrillation, familial, 9, 613980 (3), Autosomal dominant; Short QT syndrome 3, 609622 (3) Kcnj2 (MGI:104744)
chr17 72121019 72126419 17q24.3-q25.1 17q24.3 608160 SOX9, CMD1, SRA1 SRY (sex-determining region Y)-box 9 SOX9 6662 ENSG00000125398 Acampomelic campomelic dysplasia, 114290 (3), Autosomal dominant; Campomelic dysplasia, 114290 (3), Autosomal dominant; Campomelic dysplasia with autosomal sex reversal, 114290 (3), Autosomal dominant Sox9 (MGI:98371)
chr17 72403321 72592803 17q24.3 17q24.3 617079 LINC00673, HILNC75, SLNCR, LUCAIR1 Long intergenic noncoding RNA 673 LINC00673 100499467
chr17 72645945 73092713 17q24.3-q25.1 17q24.3-q25.1 616508 SLC39A11, ZIP11, C17orf26 Solute carrier family 39 (zinc transporter), member 11 SLC39A11 201266 ENSG00000133195 Slc39a11 (MGI:1917056)
chr17 72900000 83257441 17q25 602197 CDR3 Cerebellar degeneration-related autoantigen-3 8163
chr17 72900000 83257441 17q25 614163 DSPS Delayed sleep phase syndrome, susceptibility to associated with rs28936679 in AANAT {Delayed sleep phase syndrome, susceptibility to}, 614163 (2), Autosomal dominant
chr17 72900000 83257441 17q25 603411 EPR1 Effector cell protease receptor 1
chr17 72900000 83257441 17q25.1-q25.3 614149 NDNC9 Nail disorder, nonsyndromic congenital, 9 (anonychia-onycholysis) 100682325 max lod at D17S1301 Nail disorder, nonsyndromic congenital, 9, 614149 (2), Autosomal recessive
chr17 73165020 73171954 17q24 17q25.1 182452 SSTR2 Somatostatin receptor-2 SSTR2 6752 ENSG00000180616 Sstr2 (MGI:98328)
chr17 73193033 73208506 17q25.1 17q25.1 606973 COG1, LDLB, KIAA1381, CDG2G Component of oligomeric golgi complex 1 COG1 9382 ENSG00000166685 Congenital disorder of glycosylation, type IIg, 611209 (3) Cog1 (MGI:1333873)
chr17 73283623 73312003 17q24-q25 17q25.1 605468 CDC42EP4, BORG4 CDC42 effector protein 4 (binder of Rho GTPases 4) CDC42EP4 23580 ENSG00000179604 Cdc42ep4 (MGI:1929760)
chr17 73334383 73644480 17q25.1 17q25.1 607217 SDK2, KIAA1514 Sidekick, Drosophila, homolog of, 2 SDK2 54549 ENSG00000069188 Sdk2 (MGI:2443847)
chr17 74203655 74209879 17q 17q25.1 604182 RPL38 Ribosomal protein L38 RPL38 6169 ENSG00000172809 Rpl38 (MGI:1914921)
chr17 74213556 74262019 17q25.1 17q25.1 608855 TTYH2 Tweety, Drosophila, homolog of, 2 TTYH2 94015 ENSG00000141540 Ttyh2 (MGI:2157091)
chr17 74274209 74314883 17q25 17q25.1 605483 DNAI2, CILD9 Dynein, axonemal, intermediate chain 2 DNAI2 64446 ENSG00000171595 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) Dnaic2 (MGI:2685574)
chr17 74367505 74372599 17q25.1 17q25.1 609046 GPR142, PGR2 G protein-coupled receptor 142 GPR142 350383 ENSG00000257008 Gpr142 (MGI:2668437)
chr17 74431349 74451657 17q25.1-q25.3 17q25.1 605949 GPRC5C, RAIG3 G protein-coupled receptor, family C, group 5, member C GPRC5C 55890 ENSG00000170412 Gprc5c (MGI:1917605)
chr17 74466372 74484797 17q24 17q25.1 606790 CMRF35H, CMRF35H9 CMRF35H antigen CD300A 11314 ENSG00000167851 Cd300a (MGI:2443411)
chr17 74521173 74531473 17q25.1 17q25.1 610705 CD300LB, TREM5, IREM3 CD300 antigen-like family, member B CD300LB 124599 ENSG00000178789 Cd300lb (MGI:2685099)
chr17 74534358 74546170 17q22-q24 17q25.1 606786 CMRF35, CMRF35A CMRF35 antigen CD300C 10871 ENSG00000167850 Cd300c2,Cd300c (MGI:2153249,MGI:3032626)
chr17 74557228 74567511 17q25.1 17q25.1 616560 CD300H CD300H antigen 100130520 ENSG00000284690
chr17 74579364 74592282 17q25.1 17q25.1 616301 CD300LD, CD300D CD300 antigen-like family, member D CD300LD 100131439 ENSG00000204345 Cd300ld,Cd300ld3,Cd300ld4,Cd300ld5 (MGI:3702661,MGI:2687214,MGI:2442358,MGI:3702658)
chr17 74609882 74623957 17q25.1 17q25.1 609801 CD300E, CD300LE, IREM2, CLM2 CD300E antigen CD300E 342510 ENSG00000186407 Cd300e (MGI:2387602)
chr17 74671116 74747334 17q25.1 17q25.1 609956 RAB37 Pas-associated protein RAB37 RAB37 326624 ENSG00000172794 Rab37 (MGI:1929945)
chr17 74694307 74712999 17q25.1 17q25.1 609807 CD300LF, IGSF13, IREM1, CLM1 CD300 antigen-like family, member F CD300LF 146722 ENSG00000186074 Cd300lf (MGI:2442359)
chr17 74748611 74769359 17q25.1 17q25.1 604990 SLC9A3R1, EBP50, NHERF1, NPHLOP2 Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulatory factor 1 SLC9A3R1 9368 ENSG00000109062 Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3), Autosomal dominant Slc9a3r1 (MGI:1349482)
chr17 74842020 74860842 17q25 17q25.1 138254 GRIN2C, NMDAR2C Glutamate receptor, ionotropic, N-methyl D-aspartate 2C GRIN2C 2905 ENSG00000161509 Grin2c (MGI:95822)
chr17 74862496 74873030 17q24-q25 17q25.1 103270 FDXR, ADXR, ANOA Ferredoxin reductase (adrenodoxin reductase) FDXR 2232 ENSG00000161513 Auditory neuropathy and optic atrophy, 617717 (3), Autosomal recessive Fdxr (MGI:104724)
chr17 74916082 74923262 17q24-q25 17q25.1 607696 SANS, USH1G Scaffold protein containing ankyrin repeats and SAM domain USH1G 124590 ENSG00000182040 ?allelic to DFNA20 Usher syndrome, type 1G, 606943 (3), Autosomal recessive Ush1g (MGI:2450757)
chr17 74922954 74933912 17q25.3 17q25.1 607827 OTOP2 Otopetrin 2 OTOP2 92736 ENSG00000183034 Otop2 (MGI:2388365)
chr17 74935801 74949992 17q25.3 17q25.1 607828 OTOP3 Otopetrin 3 OTOP3 347741 ENSG00000182938 Otop3 (MGI:1916852)
chr17 74950741 74972804 17q25.1 17q25.1 605752 HID1, 17orf28, DMC1 HID1 domain-containing protein 1 HID1 283987 ENSG00000167861 Hid1 (MGI:2445087)
chr17 75012663 75021260 17q25.1 17q25.1 603000 ICT1, DS1 Immature colon carcinoma transcript 1 MRPL58 3396 ENSG00000167862 Mrpl58 (MGI:1915822)
chr17 75032566 75065888 17q25.1 17q25.1 613422 KCTD2, KIAA0176 Potassium channel tetramerization domain-containing 2 KCTD2 23510 ENSG00000180901 Kctd2 (MGI:1917632)
chr17 75130224 75131964 17q23-q25 17q25.1 191720 NT5C, UMPH2, DNT1 5', 3' nucleotidase, cytosolic NT5C 30833 ENSG00000125458 Nt5c (MGI:1354954)
chr17 75205435 75235758 17q25 17q25.1 170285 NUP85, PCNT1, PCNT Nucleoporin 85kD NUP85 79902 ENSG00000125450 Nup85 (MGI:3046173)
chr17 75261667 75266375 17q23-q25 17q25.1 611974 MRPS7, COXPD34 Mitochondrial ribosomal protein S7 MRPS7 51081 ENSG00000125445 mutation identified in 1 COXPD34 family ?Combined oxidative phosphorylation deficiency 34, 617872 (3), Autosomal recessive Mrps7 (MGI:1354367)
chr17 75225463 75262392 Chr.17 17q25.1 606006 GGA3, KIAA0154 Golgi associated, gamma adaptin ear containing, ARF binding protein 3 GGA3 23163 ENSG00000125447 Gga3 (MGI:2384159)
chr17 75266227 75271291 17q25.1 17q25.1 612072 MIF4GD, SLIP1 MIF4G domain-containing protein MIF4GD 57409 ENSG00000125457 Mif4gd (MGI:1916924)
chr17 75272979 75289957 17q25.3 17q25.1 606521 SLC25A19, DNC, MUP1, MCPHA, THMD3, THMD4 Solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 SLC25A19 60386 ENSG00000125454 Microcephaly, Amish type, 607196 (3), Autosomal recessive; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3), Autosomal recessive Slc25a19 (MGI:1914533)
chr17 75318075 75405708 17q24-q25 17q25.1 108355 GRB2 Growth factor receptor-bound protein 2 GRB2 2885 ENSG00000177885 Grb2 (MGI:95805)
chr17 75500259 75515582 17q25.1 17q25.1 612185 CASKIN2, KIAA1139 CASK-interacting protein 2 CASKIN2 57513 ENSG00000177303 Caskin2 (MGI:2157062)
chr17 75516507 75524738 17q25.1 17q25.1 608755 TSEN54, SEN54, PCH2A, PCH4, PCH5 tRNA splicing endonuclease 54, S. cerevisiae, homolog of TSEN54 283989 ENSG00000182173 mutation identified in 1 PCH5 patient Pontocerebellar hypoplasia type 2A, 277470 (3), Autosomal recessive; Pontocerebellar hypoplasia type 4, 225753 (3), Autosomal recessive; ?Pontocerebellar hypoplasia type 5, 610204 (3), Autosomal recessive Tsen54 (MGI:1923515)
chr17 75626844 75667201 17q25 17q25.1 603781 RECQL5, RECQ5 DNA helicase, RecQ-like 5 RECQL5 9400 ENSG00000108469 Recql5 (MGI:2156841)
chr17 75667115 75708061 17q25.1 17q25.1 610218 SAP30BP, HTRP, HCNGP, HTRG SAP30-binding protein SAP30BP 29115 ENSG00000161526 Sap30bp (MGI:1927479)
chr17 75721327 75757818 17q11-qter 17q25.1 147557 ITGB4 Integrin, beta-4 ITGB4 3691 ENSG00000132470 Epidermolysis bullosa of hands and feet, 131800 (3), Autosomal dominant; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3), Autosomal recessive Itgb4 (MGI:96613)
chr17 75757936 75765198 17q24 17q25.1 604313 GALK1 Galactokinase-1 GALK1 2584 ENSG00000108479 Galactokinase deficiency with cataracts, 230200 (3), Autosomal recessive Galk1 (MGI:95730)
chr17 75776433 75779934 17q25 17q25.1 601058 H3F3B H3 histone, family 3B (H3.3B) H3F3B 3021 ENSG00000132475 H3f3b,H3f3a (MGI:1101768,MGI:1097686)
chr17 75784770 75825804 17q25.1 17q25.1 616375 UNK, UNKEMPT, ZC3H5, KIAA1753 Unkempt family zinc finger protein UNK 85451 ENSG00000132478 Unk (MGI:2442456)
chr17 75827224 75844716 17q25.1 17q25.1 608897 UNC13D, MUNC13-4, HPLH3, HLH3, FHL3 UNC13, C. elegans, homolog of, D UNC13D 201294 ENSG00000092929 Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) Unc13d (MGI:1917700)
chr17 75845698 75856435 17q25 17q25.1 606962 WBP2, DFNB107 WW domain-binding protein 2 WBP2 23558 ENSG00000132471 Deafness, autosomal recessive 107, 617639 (3), Autosomal recessive Wbp2 (MGI:104709)
chr17 75874163 75878598 17q24-q25 17q25.1 611041 TRIM47, GOA Tripartite motif-containing protein 47 TRIM47 91107 ENSG00000132481 Trim47 (MGI:1917374)
chr17 75898642 75905099 17q23-q25 17q25.1 611844 MRPL38 Mitochondrial ribosomal protein L38 MRPL38 64978 ENSG00000204316 Mrpl38 (MGI:1926269)
chr17 75909573 75938231 17q25.1 17q25.1 616807 FGF1, ALB FAS-binding factor 1 FBF1 85302 ENSG00000188878 Fbf1 (MGI:1922033)
chr17 75941506 75979433 17q25.1 17q25.1 609751 ACOX1, ACOX, SCOX Acyl-Coenzyme A oxidase 1, palmitoyl ACOX1 51 ENSG00000161533 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3), Autosomal recessive Acox1 (MGI:1330812)
chr17 75979216 76000585 17q25.1 17q25.1 613130 TEN1, C17orf106 TEN1, CST complex subunit TEN1 100134934 ENSG00000257949 Ten1 (MGI:1916785)
chr17 76000905 76005998 17q22-qter 17q25.1 123828 CDK3 Cyclin-dependent kinase 3 CDK3 1018 ENSG00000250506 distal to BRCA1
chr17 76006844 76027451 17q25 17q25.1 601590 EVPL Envoplakin EVPL 2125 ENSG00000167880 Evpl (MGI:107507)
chr17 76038774 76072525 17q25.1 17q25.1 604858 SRP68 Signal recognition particle, 68kD SRP68 6730 ENSG00000167881 Srp68 (MGI:1917447)
chr17 76070823 76077540 17q25.3 17q25.1 603691 GALR2, GALNR2 Galanin receptor 2 GALR2 8811 ENSG00000182687 Galr2 (MGI:1337018)
chr17 76079181 76082803 17q25.3 17q25.1 610935 LGICZ1, ZAC, L2 Ligand-gated ion channel, zinc-activated, 1 ZACN 353174 ENSG00000186919
chr17 76080992 76103786 17q25.1 17q25.1 608163 EXOC1, EX070, KIAA1067 Exocyst complex component 7 EXOC7 23265 ENSG00000182473 Exoc7 (MGI:1859270)
chr17 76136332 76141298 17q22-q25 17q25.1 602291 FOXJ1, FKHL13, HFH4 Forkhead box J1 FOXJ1 2302 ENSG00000129654 Foxj1 (MGI:1347474)
chr17 76310735 76354201 17q24-q25 17q25.1 601249 PRPSAP1 Phosphoribosyl pyrophosphate synthetase-associated protein-1 PRPSAP1 5635 ENSG00000161542 Prpsap1 (MGI:1915013)
chr17 76382976 76387859 17q25.2 17q25.1 603730 SPHK1 Sphingosine kinase SPHK1 8877 ENSG00000176170 Sphk1 (MGI:1316649)
chr17 76389457 76453233 17q25.1 17q25.1 617649 UBE2O, KIAA1734 Ubiquitin-conjugating enzyme E2O UBE2O 63893 ENSG00000175931 Ube2o (MGI:2444266)
chr17 76453350 76470796 17q25 17q25.1 600950 AANAT, SNAT Arylalkylamine N-acetyltransferase AANAT 15 ENSG00000129673 Aanat (MGI:1328365)
chr17 76470892 76501439 17p25.1 17q25.1 614404 RHBDF2, IRHOM2, TOC Rhomboid 5, Drosophila, homolog of, 2 RHBDF2 79651 ENSG00000129667 Tylosis with esophageal cancer, 148500 (3), Autosomal dominant Rhbdf2 (MGI:2442473)
chr17 76527347 76557691 17q25 17q25.1 608759 CYGB, HGB, STAP Cytoglobin CYGB 114757 ENSG00000161544 Cygb (MGI:2149481)
chr17 76527585 76555338 17q22 17q25.1 610598 PRCD, RP36 PRCD, Dog, homolog of PRCD 768206 ENSG00000214140 Retinitis pigmentosa 36, 610599 (3)
chr17 76565378 76586127 17q25.1 17q25.1 610137 ST6GALNAC2, SIAT7B, SAITL1 ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 ST6GALNAC2 10610 ENSG00000070731 St6galnac2 (MGI:107553)
chr17 76617768 76643837 17q25.1 17q25.1 610138 ST6GALNAC1, SIAT7A, STYI ST6 alpha-N-aetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 ST6GALNAC1 55808 ENSG00000070526 St6galnac1 (MGI:1341826)
chr17 76712829 76726798 17q25 17q25.1 604914 JMJD6, PSR Jumonji domain containing 6 (phosphatidylserine receptor) JMJD6 23210 ENSG00000070495 Jmjd6 (MGI:1858910)
chr17 76725875 76733880 17q25.1 17q25.1 615262 METTL23, C17orf95, MRT44 Methyltransferase-like 23 METTL23 124512 ENSG00000181038 Mental retardation, autosomal recessive 44, 615942 (3), Autosomal recessive Mettl23 (MGI:1921569)
chr17 76734114 76737410 17q25 17q25.1 600813 SRSF2, SFRS2, SC35 Serine/arginine-rich splicing factor 2 SRSF2 6427 ENSG00000161547 Srsf2 (MGI:98284)
chr17 76868485 76950388 17q25.3 17q25.2 612441 MGAT5B Alpha-1,6-mannosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase isozyme B MGAT5B 146664 ENSG00000167889 Mgat5b (MGI:3606200)
chr17 77088642 77217100 17q25.1-q25.2 17q25.2-q25.3 601504 SEC14L SEC14, S. cerevisiae, like SEC14L1 6397 ENSG00000129657 Sec14l1 (MGI:1921386)
chr17 77200000 83257441 17q25.3 605805 ATOD4 Dermatitis, atopic, 4 maximum lod at D17S1290 {Dermatitis, atopic, susceptibility to, 4}, 605805 (2)
chr17 77200000 83257441 17q25.3 612239 IS5 Scoliosis, idiopathic, susceptibility to, 5 100190985 between D17S1806 and 17qter {Scoliosis, idiopathic, susceptibility to, 5}, 612239 (2)
chr17 77281409 77500595 17q25 17q25.3 604061 SEPT9, MSF, MSF1, NAPB Septin 9 SEPT9 10801 ENSG00000184640 Amyotrophy, hereditary neuralgic, 162100 (3), Autosomal dominant; Leukemia, acute myeloid, therapy-related (1); Ovarian carcinoma (1) Sept9 (MGI:1858222)
chr17 77958852 78108834 17q25.3 17q25.3 610741 TNRC6C, KIAA1582 Trinucleotide repeat-containing gene 6C TNRC6C 57690 ENSG00000078687 Tnrc6c (MGI:2443265)
chr17 78108774 78132426 17q25 17q25.3 605828 TMC6, EVER1, EV1 Transmembrane channel-like 6 TMC6 11322 ENSG00000141524 Epidermodysplasia verruciformis, 226400 (3), Autosomal recessive Tmc6 (MGI:1098686)
chr17 78129297 78142967 17q25 17q25.3 605829 TMC8, EVER2, EV2 Transmembrane channel-like 8 TMC8 147138 ENSG00000167895 previously mapped to 2p24-p21 Epidermodysplasia verruciformis, 226400 (3), Autosomal recessive Tmc8 (MGI:2669037)
chr17 78168544 78172927 17q25 17q25.3 603926 SYNGR2 Synaptogyrin 2 SYNGR2 9144 ENSG00000108639 pseudogene on 15q11; near EV1, EV2, TK1 Syngr2 (MGI:1328324)
chr17 78174078 78187203 17q25.2-q25.3 17q25.3 188300 TK1 Thymidine kinase-1 TK1 7083 ENSG00000167900 Tk1 (MGI:98763)
chr17 78214195 78225634 17q25 17q25.3 603352 API4 Apoptosis inhibitor 4 BIRC5 332 ENSG00000089685 Birc5 (MGI:1203517)
chr17 78356776 78360078 17q25.3 17q25.3 604176 SOCS3, SSI3, CIS3 Suppressor of cytokine signaling 3 SOCS3 9021 ENSG00000184557 Socs3 (MGI:1201791)
chr17 78378617 78424658 17q25.3 17q25.3 614942 PGS1 Phosphatidylglycerophosphate synthase 1 PGS1 9489 ENSG00000087157 Pgs1 (MGI:1921701)
chr17 78423696 78577435 17q25 17q25.3 610063 DNAH17, DNEL2 Dynein, axonemal, heavy chain 17 DNAH17 8632 ENSG00000187775 Dnah17 (MGI:1917176)
chr17 78674046 78782341 17q25 17q25.3 182115 CYTH1, D17S811E, SEC7 Cytohesin 1 CYTH1 9267 ENSG00000108669 Cyth1 (MGI:1334257)
chr17 78787380 78840839 17q25.3 17q25.3 612543 USP36, KIAA1453 Ubiquitin-specific protease 36 USP36 57602 ENSG00000055483 Usp36 (MGI:1919594)
chr17 78852976 78925389 17q25 17q25.3 188825 TIMP2 Tissue inhibitor of metalloproteinase-2 TIMP2 7077 ENSG00000035862 Timp2 (MGI:98753)
chr17 78971252 78979978 17q25 17q25.3 600626 LGALS3BP Lectin, galactoside-binding, soluble, 3 binding protein (galectin 6 binding protein) LGALS3BP 3959 ENSG00000108679 Lgals3bp (MGI:99554)
chr17 78991715 79009816 17q25.3 17q25.3 613165 CANT1, SCAN1, DBQD1, EDM7 Calcium-activated nucleotidase 1 CANT1 124583 ENSG00000171302 Desbuquois dysplasia 1, 251450 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 7, 617719 (3), Autosomal recessive Cant1 (MGI:1923275)
chr17 79022933 79049787 17q25 17q25.3 610365 C1QTNF1, GIP C1q- and tumor necrosis factor-related protein 1 C1QTNF1 114897 ENSG00000173918 C1qtnf1 (MGI:1919254)
chr17 79074811 79088602 17q25.3 17q25.3 611898 NAGLUEB, FLJ21865 N-acetylglucosaminidase, endo-beta ENGASE 64772 ENSG00000167280 Engase (MGI:2443788)
chr17 79089344 79665599 17q25.3 17q25.3 616999 RBFOX3, FOX3, NEUN, HRNBP3 RNA-binding protein FOX1, C. Elegans, homolog of, 3 RBFOX3 146713 ENSG00000167281
chr17 79730918 79742925 17q25.3 17q25.3 616997 ENPP7 Ectonucleotide pyrophosphatase/phosphodiesterase 7 ENPP7 339221 ENSG00000182156 Enpp7 (MGI:3027917)
chr17 79776253 79787649 17q25 17q25.3 602770 CBX2, M33, SRXY5 Chromobox homolog 2, Drosophila polycomb class CBX2 84733 ENSG00000173894 mutation identified in 1 SRXY5 patient ?46XY sex reversal 5, 613080 (3), Autosomal recessive Cbx2 (MGI:88289)
chr17 79794376 79797115 17q25.3 17q25.3 617354 CBX8, PC3 Chromobox homolog 8 CBX8 57332 ENSG00000141570 Cbx8 (MGI:1353589)
chr17 79833155 79839413 17q25.3 17q25.3 603079 CBX4, PC2 Chromobox homolog 4, Drosophila polycomb class CBX4 8535 ENSG00000141582 Cbx4 (MGI:1195985)
chr17 79932342 80035874 17q25.3 17q25.3 616637 TBC1D16 TBC1 domain family, member 16 TBC1D16 125058 ENSG00000167291 Tbc1d16 (MGI:2652878)
chr17 80036631 80100612 17q25.3 17q25.3 613799 CCDC40, KIAA1640 Coiled-coil domain-containing protein 40 CCDC40 55036 ENSG00000141519 Ciliary dyskinesia, primary, 15, 613808 (3) Ccdc40 (MGI:2443893)
chr17 80101525 80119881 17q25.2-q25.3 17q25.3 606800 GAA Glucosidase, acid alpha- GAA 2548 ENSG00000171298 distal to TK1 Glycogen storage disease II, 232300 (3), Autosomal recessive Gaa (MGI:95609)
chr17 80135213 80147182 17q25.3 17q25.3 608546 DDX48, EIF4A3, MUK34, NMP265, KIAA0111, RCPS DEAD/H Box 48 EIF4A3 9775 ENSG00000141543 Robin sequence with cleft mandible and limb anomalies, 268305 (3), Autosomal recessive Eif4a3 (MGI:1923731)
chr17 80169991 80209330 17q25.3 17q25.3 607211 CARD14, CARMA2, BIMP2, PSORS2, PSS1, PRP Caspase recruitment domain-containing protein 14 CARD14 79092 ENSG00000141527 Pityriasis rubra pilaris, 173200 (3), Autosomal dominant; Psoriasis 2, 602723 (3), Autosomal dominant Card14 (MGI:2386258)
chr17 80200667 80220399 17q25.3 17q25.3 605270 SGSH, MPS3A, SFMD N-sulfoglucosamine sulfohydrolase (sulfamidase) SGSH 6448 ENSG00000181523 Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3), Autosomal recessive Sgsh (MGI:1350341)
chr17 80220286 80253508 17q25 17q25.3 610117 SLC26A11 Solute carrier family 26 (sulfate transporter), member 11 SLC26A11 284129 ENSG00000181045 Slc26a11 (MGI:2444589)
chr17 80260819 80398785 17q25 17q25.3 613768 RNF213, ALO17, KIAA1618, MYMY2 Ring finger protein 213 RNF213 57674 ENSG00000173821 {Moyamoya disease 2, susceptibility to}, 607151 (3) Rnf213 (MGI:1289196)
chr17 80466832 80476603 17q25.1-q25.2 17q25.3 602367 NPTX1, NP1 Pentraxin I, neuronal NPTX1 4884 ENSG00000171246 Nptx1 (MGI:107811)
chr17 80544824 80966372 17q25.3 17q25.3 607130 RPTOR, RAPTOR, KIAA1303 Regulatory-associated protein of MTOR RPTOR 57521 ENSG00000141564 Rptor (MGI:1921620)
chr17 80991840 81000132 17q25.3 17q25.3 610901 CHMP6 CHMP family, member 6 CHMP6 79643 ENSG00000176108 Chmp6 (MGI:3583942)
chr17 81035130 81117431 17q25 17q25.3 605475 BAIAP2, IRSP53 BAI1-associated protein 2 BAIAP2 10458 ENSG00000175866 Baiap2 (MGI:2137336)
chr17 81117294 81166071 17q25.3 17q25.3 605276 AATK, AATYK Apoptosis-associated tyrosine kinase AATK 9625 ENSG00000181409 Aatk (MGI:1197518)
chr17 81125882 81125948 17q25.3 17q25.3 614059 MIR338, MIRN338 Micro RNA 338 MIR338 442906
chr17 81189592 81222988 17q25.3 17q25.3 613479 AZI1, ZA1, KIAA1118 5-azacytidine-induced gene 1, mouse, homolog of CEP131 22994 ENSG00000141577 Cep131 (MGI:107440)
chr17 81244810 81295432 17q25.3 17q25.3 616525 SLC38A10 Solute carrier family 38 (amino acid transporter), member 10 SLC38A10 124565 ENSG00000157637 Slc38a10 (MGI:1919305)
chr17 81395430 81466331 17q25.3 17q25.3 617646 BAHCC1, BAHD2, KIAA1447 BAH domain- and coiled-coil domain-containing protein 1 BAHCC1 57597 ENSG00000266074 Bahcc1 (MGI:2679272)
chr17 81509970 81512865 17q25.3 17q25.3 102560 ACTG1, DFNA20, DFNA26, BRWS2 Actin, gamma-1 ACTG1 71 ENSG00000184009 Baraitser-Winter syndrome 2, 614583 (3), Autosomal dominant; Deafness, autosomal dominant 20/26, 604717 (3), Autosomal dominant Actg1 (MGI:87906)
chr17 81513018 81537129 17q25 17q25.3 607643 FSCN2, RFSN, RP30 Fascin, sea urchin, homolog of, 2 FSCN2 25794 ENSG00000186765 within 200kb of ACTG1 Retinitis pigmentosa 30, 607921 (3) Fscn2 (MGI:2443337)
chr17 81539884 81552402 17q25.3 17q25.3 611301 C17orf70, FAAP100 Chromosome 17 open reading frame 70 FAAP100 80233 ENSG00000185504 Faap100 (MGI:1919135)
chr17 81556884 81637152 17qter 17q25.3 606590 NPL4, KIAA1499 Npl4, S. cerevisiae, homolog of NPLOC4 55666 ENSG00000182446 Nploc4 (MGI:2679787)
chr17 81650458 81663417 17q25 17q25.3 180073 PDE6G, PDEG, RP57 Phosphodiesterase-6G, cGMP-specific, rod, gamma PDE6G 5148 ENSG00000185527 Retinitis pigmentosa 57, 613582 (3), Autosomal recessive Pde6g (MGI:97526)
chr17 81666696 81673906 17q25.3 17q25.3 614271 CCDC137 Coiled-coil domain-containing protein 137 CCDC137 339230 ENSG00000185298 Ccdc137 (MGI:1914541)
chr17 81683931 81702120 17q25 17q25.3 604375 HGS, HRS Human growth factor-regulated tyrosine kinase substrate HGS 9146 ENSG00000185359 Hgs (MGI:104681)
chr17 81703369 81707525 17q25-qter 17q25.3 602375 MRPL12, RPML12 Ribosomal protein, mitochondrial, L12 MRPL12 6182 ENSG00000262814 Mrpl12 (MGI:1926273)
chr17 81712235 81721015 17q25.3 17q25.3 606794 SLC25A10, DIC Solute carrier family 25 (mitochondrial carrier), member 10 (dicarboxylate ion carrier) SLC25A10 1468 ENSG00000183048 Slc25a10 (MGI:1353497)
chr17 81804077 81814012 17q25 17q25.3 138033 GCGR Glucagon receptor GCGR 2642 ENSG00000215644 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant Gcgr (MGI:99572)
chr17 81822360 81833293 17q25.3 17q25.3 616514 FAM195B, MCRIP1 Family with sequence similarity 194, member B MCRIP1 348262 ENSG00000225663 Mcrip1 (MGI:2384752)
chr17 81843157 81860667 17q25 17q25.3 176790 P4HB, PROHB, CLCRP1 Procollagen-proline, 2-oxoglutarate-4-dioxygenase, beta polypeptide P4HB 5034 ENSG00000185624 Cole-Carpenter syndrome 1, 112240 (3), Autosomal dominant P4hb (MGI:97464)
chr17 81867718 81871405 17q25.3 17q25.3 601925 ARHGDIA, GDIA1, NPHS8 Rho GDP dissociation inhibitor (GDI) alpha ARHGDIA 396 ENSG00000141522 Nephrotic syndrome, type 8, 615244 (3), Autosomal recessive Arhgdia (MGI:2178103)
chr17 81887834 81891621 17q25.3 17q25.3 604171 ALYREF, THOC4, ALY, BEF ALY/REF export factor ALYREF 10189 ENSG00000183684
chr17 81890789 81900532 17q25.3 17q25.3 614534 ANAPC11, APC11 Anaphase-promoting complex subunit 11 ANAPC11 51529 ENSG00000141552 Anapc11 (MGI:1913406)
chr17 81902108 81902904 17q25.3 17q25.3 607996 NPB, PPL7 Neuropeptide B NPB 256933 ENSG00000183979 Npb (MGI:2387153)
chr17 81911938 81918181 17q25.3 17q25.3 606212 SIRT7, SIR2L7 Sirtuin 7 (Sir2, S. cerevisiae, homolog of, 7) SIRT7 51547 ENSG00000187531 Sirt7 (MGI:2385849)
chr17 81918268 81927710 17q25 17q25.3 602020 MAFG v-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein G MAFG 4097 ENSG00000197063 Mafg (MGI:96911)
chr17 81932383 81937327 17q25.3 17q25.3 179035 PYCR1, PRO3, ARCL2B, ARCL3B Pyrroline-5-carboxylate reductase-1 PYCR1 5831 ENSG00000183010 Cutis laxa, autosomal recessive, type IIB, 612940 (3), Autosomal recessive; Cutis laxa, autosomal recessive, type IIIB, 614438 (3) Pycr1 (MGI:2384795)
chr17 81952506 81961180 17q25.3 17q25.3 609847 NOTUM Notum, Drosophila, homolog of NOTUM 147111 ENSG00000185269 Notum (MGI:1924833)
chr17 81977545 82017668 17q25 17q25.3 606236 ASPSCR1, RCC17, ASPL, ASPS Alveolar soft-part sarcoma chromosome region, candidate 1 ASPSCR1 79058 ENSG00000169696 t(X;17)(p11.2;q25) Alveolar soft-part sarcoma, 606243 (3) Aspscr1 (MGI:1916188)
chr17 82018702 82022929 17q25.3 17q25.3 615128 STRA13, CENPX, FAAP10, MHF2, D9 Stimulated by retinoic acid 13 CENPX 201254 ENSG00000169689 Cenpx (MGI:894324)
chr17 82031655 82034203 17q25.3 17q25.3 602050 RAC3 Ras-related C3 botulinum toxin substrate-3 (rho family, small GTP-binding protein Rac3) RAC3 5881 ENSG00000169750 Rac3 (MGI:2180784)
chr17 82035880 82037696 17q25.3 17q25.3 608347 DCXR, P34H, PNTSU Dicarbonyl/L-xylulose reductase DCXR 51181 ENSG00000169738 [Pentosuria], 260800 (3), Autosomal recessive Dcxr (MGI:1915130)
chr17 82047901 82051773 17q25 17q25.3 602578 RFNG Radical fringe RFNG 5986 ENSG00000169733 Rfng (MGI:894275)
chr17 82051464 82058060 17q25.3 17q25.3 601934 GPS1 G protein pathway suppressor 1 GPS1 2873 ENSG00000169727 Gps1 (MGI:2384801)
chr17 82078337 82098302 17q25 17q25.3 600212 FASN Fatty acid synthase FASN 2194 ENSG00000169710 Fasn (MGI:95485)
chr17 82239018 82273741 17q25 17q25.3 600864 CSNK1D, ASPS, FASPS2 Casein kinase-1, delta CSNK1D 1453 ENSG00000141551 Advanced sleep-phase syndrome, familial, 2, 615224 (3), Autosomal dominant Csnk1d (MGI:1355272)
chr17 82314864 82320828 17q25.2-q25.3 17q25.3 186820 CD7 CD7 antigen (p41) CD7 924 ENSG00000173762 Cd7 (MGI:88344)
chr17 82321023 82334044 17q25.2-q25.3 17q25.3 602602 SECTM1, K12 Secreted and transmembrane 1 SECTM1 6398 ENSG00000141574 Sectm1a (MGI:2384805)
chr17 82359246 82363775 17q25.3 17q25.3 615647 TEX19 Testis-expressed gene 19 TEX19 400629 ENSG00000182459 Tex19.2 (MGI:1918206)
chr17 82374276 82375585 17q25.3 17q25.3 600896 GPR14, UTR2, UTR G protein-coupled receptor-14 (urotensin II receptor) UTS2R 2837 ENSG00000181408 Uts2r (MGI:2183450)
chr17 82519717 82604606 17q25 17q25.3 147685 FOXK2, ILF1 Forkhead box K2 (interleukin enhancer-binding factor 1) FOXK2 3607 ENSG00000141568 Foxk2 (MGI:1916087)
chr17 82614561 82648534 17q25.3 17q25.3 609226 WDR45B, WIPI3, WDR45L WD repeat domain 45B WDR45B 56270 ENSG00000141580 Wdr45b (MGI:1914090)
chr17 82716705 82728016 17q25 17q25.3 611683 FN3KRP Fructosamine 3-kinase-related protein FN3KRP 79672 ENSG00000141560 Fn3krp (MGI:2679256)
chr17 82735575 82751196 17q25.3 17q25.3 608425 FN3K Fructosamine 3-kinase FN3K 64122 ENSG00000167363 Fn3k (MGI:1926834)
chr17 82752047 82943185 17q25 17q25.3 604649 TBCD, PEBAT Tubulin-specific chaperone D TBCD 6904 ENSG00000141556 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive Tbcd (MGI:1919686)
chr17 82829433 82840054 17q25.3 17q25.3 610226 ZNF750, FLJ13841 Zinc finger protein 750 ZNF750 79755 ENSG00000141579 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3) Zfp750 (MGI:2442210)
chr17 82942148 83051844 17q25.3 17q25.3 615337 B3GNTL1 Beat-1,3-N-acetylglucosaminyltransferase-like 1 B3GNTL1 146712 ENSG00000175711 B3gntl1 (MGI:2441705)
chr17 83079690 83095125 17q25.3 17q25.3 616241 METRNL Meteorin-like protein METRNL 284207 ENSG00000176845 Metrnl (MGI:2384806)
chr17 0 83257441 Chr.17 138110 G6PDL Glucose-6-phosphate dehydrogenase-like
chr17 0 83257441 Chr.17 610064 ODS1 Opioid dependence, susceptibility to, 1 100188802 {Opioid dependence, susceptibility to, 1}, 610064 (2)
chr18 0 15400000 18p11.3-p11.2 104000 AA1 Alopecia areata 1 100034700 max lod at D18S967 Alopecia areata 1, 104000 (2), Multifactorial
chr18 0 18500000 18p 146390 DEL18p, C18DELp Chromosome 18p deletion syndrome Chromosome 18p deletion syndrome, 146390 (4), Autosomal dominant
chr18 0 7200000 18p11.32-p11.31 609647 DFNB46 Deafness, neurosensory, autosomal recessive 46 DFNB46 449488 between D18S59 and D18S391 Deafness, autosomal recessive 46, 609647 (2), Autosomal recessive
chr18 0 18500000 18p11 607488 DYT15 Dystonia-15, myoclonic DYT15 317714 Dystonia-15, myoclonic, 607488 (2), Autosomal dominant
chr18 0 18500000 18p 602124 DYT7 Dystonia-7 (torsion dystonia, adult-onset, focal) DYT7 1866 Dystonia-7, torsion, 602124 (2), Autosomal dominant
chr18 0 15400000 18pter-p11.21 131150 ERV1 Oncogene ERV1; endogenous retrovirus-1
chr18 0 18500000 18p11 612354 IBD21 Inflammatory bowel disease 21 100192312 associated with rs2542151 {Inflammatory bowel disease 21}, 612354 (2), Autosomal dominant
chr18 0 18500000 18p 125480 MAFD1, BPAD, MD1 Major affective disorder 1 MAFD1 4095 ?also 18q {Major affective disorder 1}, 125480 (2), Autosomal dominant
chr18 0 7200000 18p11.3 614343 MRT19 Mental retardation, autosomal recessive 19 MRT19 100852395 between rs4606805 and rs1787846 Mental retardation, autosomal recessive 19, 614343 (2), Autosomal recessive
chr18 0 7200000 18p11.3 612353 POROK6, DSAP4 Porokeratosis 6 100196911 between telomere and D18S391 Porokeratosis 6, multiple types, 612353 (2), Autosomal dominant
chr18 0 18500000 18p 603206 SCZD8 Schizophrenia susceptibility locus, chromosome 18-related SCZD8 8806 {Schizophrenia}, 181500 (2), Autosomal dominant
chr18 0 18500000 18p 614290 TET18P Tetrasomy 18p Tetrasomy 18p, 614290 (4)
chr18 158482 213738 18p 18p11.32 607274 USP14, TGT Ubiquitin-specific protease 14 USP14 9097 ENSG00000101557 Usp14 (MGI:1928898)
chr18 214347 268058 18p11.32 18p11.32 606930 THOC1, HPR1 THO complex 1 (nuclear matrix protein p84) THOC1 9984 ENSG00000079134 Thoc1 (MGI:1919668)
chr18 319354 500728 18p11.32 18p11.32 607621 COLEC12, SRCL, CLP1 Collectin 12 COLEC12 81035 ENSG00000158270 Colec12 (MGI:2152907)
chr18 580342 582019 18p11.32 18p11.32 603187 CETN1, CEN1 Centrin-1 CETN1 1068 ENSG00000177143 Cetn1 (MGI:1347086)
chr18 596997 650297 18p11.3 18p11.32 616990 CLUL1 Clusterin-like protein 1 CLUL1 27098 ENSG00000079101
chr18 657583 673577 18p11.32 18p11.32 188350 TYMS, TS, TMS Thymidylate synthase TYMS 7298 ENSG00000176890 <50 kb from YES1 Tyms (MGI:98878)
chr18 670319 712663 18p11.32 18p11.32 607427 ENOSF1, RTS Enolase superfamily member 1 ENOSF1 55556 ENSG00000132199
chr18 721591 812845 18p11.3 18p11.32 164880 YES1 Oncogene YES-1 YES1 7525 ENSG00000176105 <50 kb from TYMS Yes1 (MGI:99147)
chr18 904383 912171 18p11 18p11.32 102980 ADCYAP1 Adenylate cyclase activating polypeptide-1 (pituitary) ADCYAP1 116 ENSG00000141433 Adcyap1 (MGI:105094)
chr18 2655886 2805016 18p11.32 18p11.32 614982 SMCHD1, KIAA0650, BAMS Structural maintenance of chromosomes flexible hinge domain-containing protein 1 SMCHD1 23347 ENSG00000101596 Bosma arhinia microphthalmia syndrome, 603457 (3), Autosomal dominant; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3) Smchd1 (MGI:1921605)
chr18 2900000 7200000 18p11.31 160700 MYP2 Myopia, high grade, autosomal dominant 1 MYP2 4658 Myopia-2, 160700 (2), Autosomal dominant
chr18 2916993 3013314 18p 18p11.31 605519 LPIN2 Lipin 2 LPIN2 9663 ENSG00000101577 Majeed syndrome, 609628 (3) Lpin2 (MGI:1891341)
chr18 3066806 3220107 18p11.31 18p11.31 603508 MYOM1, SKELEMIN Myomesin 1 MYOM1 8736 ENSG00000101605 Myom1 (MGI:1341430)
chr18 3262112 3278283 18p11.31 18p11.31 609211 MYL12B, MRLC2 Myosin, light chain 12B, regulatory MYL12B 103910 ENSG00000118680 Myl12a (MGI:1914518)
chr18 3411926 3458411 18p11.3 18p11.31 602630 TGIF1, HPE4 TG-interacting factor 1 TGIF1 7050 ENSG00000177426 Holoprosencephaly 4, 142946 (3), Autosomal dominant Tgif1 (MGI:1194497)
chr18 3496031 4455440 18p11.31 18p11.31 605445 DLGAP1, DAP1, DLGAP1A, DLGAP1B Discs large-associated protein 1 DLGAP1 9229 ENSG00000170579 Dlgap1 (MGI:1346065)
chr18 5142910 5197751 18p11.31 18p11.31 616427 C18orf42 Chromosome 18 open reading frame 42 AKAIN1 642597 ENSG00000231824 Akain1 (MGI:2444600)
chr18 5289018 5297052 18p11.21 18p11.31 602126 ZFP161, ZF5 Zinc finger protein-161 ZBTB14 7541 ENSG00000198081 Zbtb14 (MGI:1195345)
chr18 5392275 5630662 18p11.3 18p11.31 605331 EPB41L3, DAL1 Erythrocyte membrane protein band 4.1-like 3 EPB41L3 23136 ENSG00000082397 Epb41l3 (MGI:103008)
chr18 5954702 6414918 18p11.31 18p11.31 617135 L3MBTL4 L3MBT-like 4 L3MBTL4 91133 ENSG00000154655 L3mbtl4 (MGI:2444889)
chr18 6729717 6915715 18p11.31 18p11.31 610592 ARHGAP28, KIAA1314 RHO GTPase-activating protein 28 ARHGAP28 79822 ENSG00000088756 Arhgap28 (MGI:2147003)
chr18 6941743 7117813 18p11.31 18p11.31 150320 LAMA1, PTBHS Laminin, alpha-1 LAMA1 284217 ENSG00000101680 Poretti-Boltshauser syndrome, 615960 (3), Autosomal recessive Lama1 (MGI:99892)
chr18 7200000 39500000 18p11.23-q12.2 107200 ANIC Anosmia, isolated congenital 550625 max lod at D18S1108 Anosmia, isolated congenital, 107200 (2), Autosomal dominant
chr18 7200000 15400000 18p11.2 606616 DYX6, DYXQTL18 Dyslexia, susceptibility to, 6 DYX6 266691 {Dyslexia, susceptibility to, 6}, 606616 (2)
chr18 7200000 15400000 18p11.2 609253 FEB6 Febrile seizures, familial, 6 FEB6 619397 max lod at D18S1158 Febrile seizures, familial, 6, 609253 (2), Autosomal dominant
chr18 7200000 8500000 18p11.23 612410 PSORS10 Psoriasis susceptibility 10 PSORS10 503613 between D18S63 and D18S967 {Psoriasis susceptibility 10}, 612410 (2)
chr18 7567315 8406860 18p11.2 18p11.23 176888 PTPRM, PTPRL1, RPTPM Protein tyrosine phosphatase, receptor type, mu polypeptide PTPRM 5797 ENSG00000173482 Ptprm (MGI:102694)
chr18 8609427 8639382 18p11.22 18p11.22 616448 RAB12 Ras-associated protein RAB12 RAB12 201475 ENSG00000206418 Rab12 (MGI:894284)
chr18 8695855 8707620 18p11.22 18p11.22 616131 GACAT2, MTCL1AS1 Gastric cancer-associated transcript 2, noncoding GACAT2 100287082
chr18 8706053 8832777 18p11.22 18p11.22 615766 MTCL1, KIAA0802 Microtubule crosslinking factor 1 MTCL1 23255 ENSG00000168502 Mtcl1 (MGI:1915867)
chr18 9102629 9134344 18p11.31-p11.2 18p11.22 600532 NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kD NDUFV2 4729 ENSG00000178127 pseudogene on 19q13.3-qter Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufv2 (MGI:1920150)
chr18 9136752 9285984 18p11.22 18p11.22 610616 ANKRD12, ANCO1, KIAA0874 Ankyrin repeat domain-containing protein 12 ANKRD12 23253 ENSG00000101745 Ankrd12 (MGI:1914357)
chr18 9334766 9402419 18p11.3-p11.2 18p11.22 605049 TWSG1, TSG Twisted gastrulation, Drosophila, homolog of TWSG1 57045 ENSG00000128791 Twsg1 (MGI:2137520)
chr18 9475531 9538107 18p11 18p11.22 605801 RALBP1, RLIP76 RALA-binding protein 1 RALBP1 10928 ENSG00000017797 Ralbp1 (MGI:108466)
chr18 9546790 9615272 18p11.22 18p11.22 604908 PPP4R1, PP4R1 Protein phosphatase 4, regulatory subunit 1 PPP4R1 9989 ENSG00000154845 Ppp4r1 (MGI:1917601)
chr18 9708186 9862555 18p11.3 18p11.22 605694 RAB31 Ras-associated protein RAB31 RAB31 11031 ENSG00000168461 Rab31 (MGI:1914603)
chr18 9885725 9888158 18p11.22 18p11.22 617790 TXNDC2, SPTRX1 Thioredoxin domain-containing protein 2 TXNDC2 84203 ENSG00000168454 Txndc2 (MGI:2389312)
chr18 9913957 9960020 18p11.22 18p11.22 605703 VAPA, VAP33 Vesicle-associated membrane protein-associated protein A VAPA 9218 ENSG00000101558 Vapa (MGI:1353561)
chr18 10454627 10488700 18p11 18p11.22 607479 APCDD1, HHS, HYPT1, HTS Adenomatosis polyposis coli down-regulated 1 APCDD1 147495 ENSG00000154856 Hypotrichosis 1, 605389 (3), Autosomal dominant Apcdd1 (MGI:3513977)
chr18 10525875 10552768 18p11.22 18p11.22 603216 NAPG N-ethylmaleimide-sensitive factor attachment protein, gamma NAPG 8774 ENSG00000134265 Napg (MGI:104561)
chr18 10670236 11149584 18p11.22 18p11.22-p11.21 613629 PIEZO2, FAM38B, DA5, DA3, MWKS, DAIPT PIEZO-type mechanosensitive ion channel component 2 PIEZO2 63895 ENSG00000154864 mutation identified in 1 MWKS patient Arthrogryposis, distal, type 3, 114300 (3), Autosomal dominant; Arthrogryposis, distal, type 5, 108145 (3), Autosomal dominant; Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive; ?Marden-Walker syndrome, 248700 (3), Autosomal dominant Piezo2 (MGI:1918781)
chr18 11689014 11885684 18p11.21 18p11.21 139312 GNAL, DYT25 Guanine nucleotide-binding protein, alpha-subunit, olfactory type GNAL 2774 ENSG00000141404 Dystonia 25, 615073 (3), Autosomal dominant Gnal (MGI:95774)
chr18 11851389 11854448 18p11 18p11.21 606486 CHMP1B, C10orf2 CHMP family, member 1B CHMP1B 57132 ENSG00000255112 Chmp1b (MGI:1914314)
chr18 11883470 11908796 18p11.2 18p11.21 611900 MPPE1 Metallophosphoesterase 1 MPPE1 65258 ENSG00000154889 Mppe1 (MGI:2661311)
chr18 11981427 12030885 18p11.2 18p11.21 605922 IMPA2 Myo-inositol monophosphatase 2 IMPA2 3613 ENSG00000141401 Impa2 (MGI:2149728)
chr18 12254318 12277594 18p11.21 18p11.21 604440 CIDEA Cell death-inducing DFFA-like effector A CIDEA 1149 ENSG00000176194 Cidea (MGI:1270845)
chr18 12307668 12329825 18p11.21 18p11.21 615103 TUBB6, FPVEPD Tubulin, beta-6 TUBB6 84617 ENSG00000176014 mutation identified in 1 FPVEPD family ?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction, 617732 (3), Autosomal dominant Tubb6 (MGI:1915201)
chr18 12328943 12377308 18p11 18p11.21 604581 AFG3L2, SCA28, SPAX5 ATPase family gene 3-like 2 AFG3L2 10939 ENSG00000141385 Spastic ataxia 5, autosomal recessive, 614487 (3), Autosomal recessive; Spinocerebellar ataxia 28, 610246 (3), Autosomal dominant Afg3l2 (MGI:1916847)
chr18 12407895 12432237 18p11.21 18p11.21 616545 PRELID3A, SLMO1, C18orf43 PRELI domain-containing protein 3A PRELID3A 10650 ENSG00000141391 Prelid3a (MGI:2442865)
chr18 12658738 12725739 18p11.21 18p11.21 609702 PSMG2, TNFSF5IP1, HCCA3, CLAST3, PAC2 Proteasome (prosome, macropain) assembly chaperone 1 PSMG2 56984 ENSG00000128789 Psmg2 (MGI:1922901)
chr18 12785477 12884350 18p11.3-p11.2 18p11.21 176887 PTPN2, PTPT Protein tyrosine phosphatase, nonreceptor-type, 2 PTPN2 5771 ENSG00000175354 Ptpn2 (MGI:97806)
chr18 12947983 12987664 18p11.21 18p11.21 609263 SEH1L, SEH1, SEC13L Seh1-like protein SEH1L 81929 ENSG00000085415 Seh1l (MGI:1919374)
chr18 12991300 13125052 18p11.21 18p11.21 616426 CEP192, PPP1R62, KIAA1569 Centrosomal protein, 192kD CEP192 55125 ENSG00000101639 Cep192 (MGI:1918049)
chr18 13217603 13652753 18p11.2 18p11.21 606571 C18orf1 Chromosome 18 open reading frame 1 LDLRAD4 753 ENSG00000168675 Ldlrad4 (MGI:1277150)
chr18 13726644 13764555 18p11.23-p11.22 18p11.21 603514 RNMT, MET RNA guanine-7-methyltransferase RNMT 8731 ENSG00000101654 Rnmt (MGI:1915147)
chr18 13825543 13826861 18p11.2 18p11.21 600042 MC5R Melanocortin-5 receptor MC5R 4161 ENSG00000176136 Mc5r (MGI:99420)
chr18 13882041 13915706 18p11.2 18p11.21 607397 MC2R Melanocortin-2 receptor (ACTH receptor) MC2R 4158 ENSG00000185231 Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3), Autosomal recessive Mc2r (MGI:96928)
chr18 14748239 14855464 18p11.21 18p11.21 616565 ANKRD30B Ankyrin repeat domain-containing protein 30B ANKRD30B 374860 ENSG00000180777
chr18 18500000 80373285 18q 601808 DEL18q Chromosome 18q deletion syndrome Chromosome 18q deletion syndrome, 601808 (4), Autosomal dominant
chr18 18500000 80373285 18q 143850 OHDS Orthostatic hypotensive disorder of Streeten 50948 Orthostatic hypotensive disorder of Streeten, 143850 (2), Autosomal dominant
chr18 20949739 21111850 18q11.1 18q11.1 601702 ROCK1 RHO-associated coiled-coil-containing protein kinase 1 ROCK1 6093 ENSG00000067900 Rock1 (MGI:107927)
chr18 21242224 21528502 18q11.1 18q11.1-q11.2 617782 GREB1L, C18orf6, KIAA1772, RHDA3 GREB1-like protein GREB1L 80000 ENSG00000141449 Renal hypodysplasia/aplasia 3, 617805 (3) Greb1l (MGI:3576497)
chr18 21500000 39500000 18q11.2-q12.2 613930 APMR3 Alopecia-mental retardation syndrome 3 100653369 between D18S866 and D18S811 Alopecia-mental retardation syndrome 3, 613930 (2), Autosomal recessive
chr18 21529280 21600735 18q11.2 18q11.2 609674 ESCO1, ECO1, CTF, ESO1, EFO1, KIAA1911 Establishment of cohesion 1, S. cerevisiae, homolog of, 1 ESCO1 114799 ENSG00000141446 Esco1 (MGI:1925055)
chr18 21612268 21630246 18q11.2 18q11.2 601063 SNRPD1 Small nuclear ribonucleoprotein polypeptide D1 SNRPD1 6632 ENSG00000167088 Snrpd1 (MGI:98344)
chr18 21650896 21704804 18q11.1 18q11.2 612197 ABHD3, LABH3 Abhydrolase domain-containing 3 ABHD3 171586 ENSG00000158201 Abhd3 (MGI:2147183)
chr18 21740792 21870956 18q11.2 18q11.2 608677 MIB1, MIB, DIP1, KIAA1323, LVNC7 Mindbomb, Drosophila, homolog of, 1 MIB1 57534 ENSG00000101752 Left ventricular noncompaction 7, 615092 (3), Autosomal dominant Mib1 (MGI:2443157)
chr18 21825697 21825784 18q11.2 18q11.2 610254 MIR133A1 Micro RNA 133A1 MIR133A1 406922
chr18 21829003 21829087 18q11.2 18q11.2 610252 MIR1-2 Micro RNA 1-2 MIR1-2 406905
chr18 22169436 22202527 18q11.1-q11.2 18q11.2 601656 GATA6, AVSD5, ASD9, PACHD GATA-binding protein-6 GATA6 2627 ENSG00000141448 Atrial septal defect 9, 614475 (3), Autosomal dominant; Atrioventricular septal defect 5, 614474 (3), Autosomal dominant; Pancreatic agenesis and congenital heart defects, 600001 (3), Autosomal dominant; Persistent truncus arteriosus, 217095 (3); Tetralogy of Fallot, 187500 (3), Autosomal dominant Gata6 (MGI:107516)
chr18 22914120 23026485 18q11.2 18q11.2 604124 RBBP8, RIM, SCKL2, JWDS Retinoblastoma-binding protein 8 RBBP8 5932 ENSG00000101773 Jawad syndrome, 251255 (3), Autosomal recessive; Pancreatic carcinoma, somatic (3); Seckel syndrome 2, 606744 (3), Autosomal recessive Rbbp8 (MGI:2442995)
chr18 23237251 23437968 18q11.2 18q11.2 615430 TMEM241, C18orf45 Transmembrane protein 241 TMEM241 85019 ENSG00000134490 Tmem241 (MGI:2442435)
chr18 23452822 23483139 18q11.2 18q11.2 603579 RIOK3, SUDD RIO kinase 3 RIOK3 8780 ENSG00000101782 Riok3 (MGI:1914128)
chr18 23506183 23586616 18q11-q12 18q11.2 607623 NPC1, NPC NPC1 gene NPC1 4864 ENSG00000141458 some families not linked to 18; type D prob. allelic Niemann-Pick disease, type C1, 257220 (3), Autosomal recessive; Niemann-Pick disease, type D, 257220 (3), Autosomal recessive Npc1 (MGI:1097712)
chr18 23689442 23955065 18q11.2 18q11.2 600805 LAMA3, LOCS Laminin, alpha-3 (nicein, 150kD; kalinin, 165kD; BM600, 150kD; epiligrin) LAMA3 3909 ENSG00000053747 Epidermolysis bullosa, generalized atrophic benign, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Laryngoonychocutaneous syndrome, 245660 (3), Autosomal recessive Lama3 (MGI:99909)
chr18 24138955 24161599 18q12.2 18q11.2 612135 CABYR, FSP2 Calcium-binding tyrosine phosphorylation-regulated protein CABYR 26256 ENSG00000154040 Cabyr (MGI:1918382)
chr18 24162044 24397881 18q11-q12 18q11.2 606730 OSBPL1A, ORP1 Oxysterol-binding protein-like protein 1A OSBPL1A 114876 ENSG00000141447 Osbpl1a (MGI:1927551)
chr18 24426644 24453530 18q11.2-q12.1 18q11.2 615319 IMPACT Impact RWD domain protein IMPACT 55364 ENSG00000154059 Impact (MGI:1098233)
chr18 24460628 24479956 18q11.2 18q11.2 606792 HRH4, HH4R Histamine receptor H4 HRH4 59340 ENSG00000134489 Hrh4 (MGI:2429635)
chr18 25061923 25352249 18q11.2 18q11.2 610974 ZNF521, EHZF, EVI3 Zinc finger protein 521 ZNF521 25925 ENSG00000198795 Zfp521 (MGI:95459)
chr18 26016252 26091216 18q11.2 18q11.2 600192 SS18, SSXT, SYT Synovial sarcoma translocation, chromosome 18 SS18 6760 ENSG00000141380 5' SYST/3' SSRC in t(X;18) Sarcoma, synovial (1) Ss18 (MGI:107708)
chr18 26133846 26193354 18q11.2 18q11.2 617841 PSMA8, PSMA7L Proteasome subunit, alpha-type, 8 PSMA8 143471 ENSG00000154611 Psma8 (MGI:1920927)
chr18 26226444 26391684 18q11.2 18q11.2 601689 TAF4B, TAF2C2, TAFII105, SPGF13 TAF4b RNA polymerase II, TATA box-binding protein-associated factor, 105kD TAF4B 6875 ENSG00000141384 mutation identified in 1 SPGF13 family ?Spermatogenic failure 13, 615841 (3), Autosomal recessive Taf4b (MGI:2152345)
chr18 26454909 26657511 18q11.2 18q11.2 613420 KCTD1, SENS Potassium channel tetramerization domain-containing 1 KCTD1 284252 ENSG00000134504 Scalp-ear-nipple syndrome, 181270 (3), Autosomal dominant Kctd1 (MGI:1918269)
chr18 26687620 26703637 18q11.2 18q11.2 617647 PCAT18, LINC01092 Prostate cancer-associated transcript 18, noncoding PCAT18 728606
chr18 26852037 26865802 18q11.2-q12.1 18q11.2 600308 AQP4, MIWC Aquaporin-4 AQP4 361 ENSG00000171885 Aqp4 (MGI:107387)
chr18 26908753 27185363 18q11.2 18q11.2 610191 CHST9, GalNAc4ST2 Carbohydrate sulfotransferase 9 CHST9 83539 ENSG00000154080 Chst9 (MGI:1918617)
chr18 27932877 28177445 18q11.2 18q12.1 114020 CDH2, NCAD Cadherin 2 (cadherin, neuronal type; N-cadherin) CDH2 1000 ENSG00000170558 Cdh2 (MGI:88355)
chr18 30989364 31042814 18q12.1 18q12.1 600271 DSC3, DSC4 Desmocollin-3 DSC3 1825 ENSG00000134762 mutation identified in 1 HYPTSV family ?Hypotrichosis and recurrent skin vesicles, 613102 (3), Autosomal recessive Dsc3 (MGI:1194993)
chr18 31065973 31102431 18q12.1 18q12.1 125645 DSC2, DSC3, ARVD11 Desmocollin-2 DSC2 1824 ENSG00000134755 Arrhythmogenic right ventricular dysplasia 11, 610476 (3), Autosomal recessive, Autosomal dominant; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3), Autosomal recessive, Autosomal dominant Dsc2 (MGI:103221)
chr18 31129235 31162855 18q12.1 18q12.1 125643 DSC1 Desmocollin-1 DSC1 1823 ENSG00000134765 Dsc1 (MGI:109173)
chr18 31318088 31359245 18q12.1-q12.2 18q12.1 125670 DSG1, PPKS1, SPPK1, EPKHE Desmoglein-1 DSG1 1828 ENSG00000134760 pemphigus foliaceous antigen Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3), Autosomal recessive; Keratosis palmoplantaris striata I, AD, 148700 (3), Autosomal dominant Dsg1a,Dsg1b (MGI:94930,MGI:2664357)
chr18 31376776 31415790 18q12 18q12.1 607892 DSG4, LAH, HYPT6 Desmoglein 4 DSG4 147409 ENSG00000175065 Hypotrichosis 6, 607903 (3), Autosomal recessive Dsg4 (MGI:2661061)
chr18 31447768 31478711 18q12.1-q12.2 18q12.1 169615 DSG3 Desmoglein-3 (pemphigus vulgaris antigen) DSG3 1830 ENSG00000134757 Dsg3 (MGI:99499)
chr18 31498003 31549007 18q12.1-q12.2 18q12.1 125671 DSG2, ARVD10, ARVC10, CMD1BB Desmoglein-2 DSG2 1829 ENSG00000046604 Arrhythmogenic right ventricular dysplasia 10, 610193 (3), Autosomal dominant; Cardiomyopathy, dilated, 1BB, 612877 (3) Dsg2 (MGI:1196466)
chr18 31591766 31599023 18q11.2-q12.1 18q12.1 176300 TTR, PALB Transthyretin (prealbumin) TTR 7276 ENSG00000118271 Amyloidosis, hereditary, transthyretin-related, 105210 (3), Autosomal dominant; Carpal tunnel syndrome, familial, 115430 (3), Autosomal dominant; [Dystransthyretinemic hyperthyroxinemia], 145680 (3), Autosomal dominant Ttr (MGI:98865)
chr18 31621035 31724669 18q11 18q12.1 604017 B4GALT6 Beta-1,4-galactosyltransferase 6 B4GALT6 9331 ENSG00000118276 B4galt6 (MGI:1928380)
chr18 31759695 31760879 18q12.1 18q12.1 616153 SLC25A52, MCART2 Solute carrier family 25, member 52 SLC25A52 147407 ENSG00000141437
chr18 31829172 31943127 18q12.1 18q12.1 614136 TRAPPC8, KIAA1012 Trafficking protein particle complex, subunit 8 TRAPPC8 22878 ENSG00000153339 Trappc8 (MGI:2443008)
chr18 32018481 32090755 18q12.1 18q12.1 610432 RNF125, TRAC1, TNORS RING finger protein 125 RNF125 54941 ENSG00000101695 Tenorio syndrome, 616260 (3), Autosomal dominant
chr18 32091854 32131560 18q12.1 18q12.1 616319 RNF138, NARF RING finger protein 138 RNF138 51444 ENSG00000134758 Rnf138 (MGI:1929211)
chr18 32190023 32222606 18q12.2-q12.3 18q12.1 600389 MEP1B Meprin A, beta MEP1B 4225 ENSG00000141434 Mep1b (MGI:96964)
chr18 32672672 32773010 18q12.1 18q12.1 613772 KLHL14, PRINTOR, KIAA1384 Kelch-like 14 KLHL14 57565 ENSG00000197705 Klhl14 (MGI:1921249)
chr18 33578576 33751194 18q12.1 18q12.1 615115 ASXL3, KIAA1713, BRPS Additional sex combs-like 3 ASXL3 80816 ENSG00000141431 Bainbridge-Ropers syndrome, 615485 (3) Asxl3 (MGI:2685175)
chr18 33851099 34224956 18q12.1 18q12.1 603577 NOL4, NOLP Nucleolar protein 4 NOL4 8715 ENSG00000101746 Nol4 (MGI:2441684)
chr18 34493289 34891843 18q12.1-q12.2 18q12.1 601239 DTNA, D18S892E, DRP3, LVNC1 Dystobrevin, alpha (dystrophin-related protein 3) DTNA 1837 ENSG00000134769 Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3), Autosomal dominant Dtna (MGI:106039)
chr18 34976927 35143469 18q12 18q12.1-q12.2 605789 MAPRE2, EB2, RP1, CSCSC2 Microtubule-associated protein, RP/EB family, member 2 MAPRE2 10982 ENSG00000166974 Symmetric circumferential skin creases, congenital, 2, 616734 (3), Autosomal dominant
chr18 35100000 45900000 18q12.2-q12.3 605293 OPA4 Optic atrophy 4 OPA4 58156 Optic atrophy 4, 605293 (2)
chr18 35240703 35258432 18q12 18q12.2 609601 ZNF397 Zinc finger protein-397 ZNF397 84307 ENSG00000186812 Zfp397 (MGI:1916506)
chr18 35290271 35310765 18q12 18q12.2 604754 ZNFEB, ZNF271 Epstein-Barr virus-induced zinc finger protein ZNF271P 10778
chr18 35332207 35344466 18q12 18q12.2 194534 ZNF24 Zinc finger protein-24 (KOX17) ZNF24 7572 ENSG00000172466 Zfp24 (MGI:1929704)
chr18 35366696 35377336 18q12 18q12.2 609600 ZNF396 Zinc finger protein-396 ZNF396 252884 ENSG00000186496
chr18 35654568 35711833 18q12.1 18q12.2 602273 GALNT1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 GALNT1 2589 ENSG00000141429 Galnt1 (MGI:894693)
chr18 35904817 35904925 18q12.2 18q12.2 612698 MIR187, MIRN187 Micro RNA 187 MIR187 406963
chr18 35982384 36067593 18q12 18q12.2 610347 RPRD1A, P15RS, FLJ10656 Regulation of nuclear pre-mRNA domain-containing protein 1A RPRD1A 55197 ENSG00000141425 Rprd1a (MGI:2385066)
chr18 36129873 36177930 18q12.2 18q12.2 616054 ELP2, STATIP1, MRT58 Elongator acetyltransferase complex, subunit 2 ELP2 55250 ENSG00000134759 Mental retardation, autosomal recessive 58, 617270 (3), Autosomal recessive Elp2 (MGI:1889642)
chr18 36187209 36268721 18q12.2 18q12.2 613274 MOCOS, MCS, XAN2 Molybdenum cofactor sulfurase MOCOS 55034 ENSG00000075643 Xanthinuria, type II, 603592 (3), Autosomal recessive Mocos (MGI:1915841)
chr18 36297695 36780219 18q12.2 18q12.2 609691 FHOD3, FHOS2, KIAA1695 Formin homology-2 domain-containing protein 3 FHOD3 80206 ENSG00000134775 Fhod3 (MGI:1925847)
chr18 36828816 37232126 18q12.2 18q12.2 616480 KIAA1328, HINDERIN Hinderin KIAA1328 57536 ENSG00000150477 AW554918 (MGI:2147376)
chr18 37243039 37566036 18q12 18q12.2 612679 CELF4, BRUNOL4 CUGbp- and ELAV-like family, member 4 CELF4 56853 ENSG00000101489 Celf4 (MGI:1932407)
chr18 39500000 45900000 18q12.3 614319 VUR6 Vesicoureteral reflux 6 100820763 closest marker rs1054986 Vesicoureteral reflux 6, 614319 (2)
chr18 41955197 42084605 18q12.3 18q12.3 602609 PIK3C3 Phosphatidylinositol 3-kinase, class 3 PIK3C3 5289 ENSG00000078142 Pik3c3 (MGI:2445019)
chr18 42743217 43115691 18q12.3 18q12.3 609592 RIT2, RIN, ROC2 Ric-like protein without CAAX motif 2 RIT2 6014 ENSG00000152214 Rit2 (MGI:108054)
chr18 43267891 43277649 18q12.3 18q12.3 600103 SYT4 Synaptotagmin-4 SYT4 6860 ENSG00000132872 Syt4 (MGI:101759)
chr18 44680071 45068509 18q12.31 18q12.3 611060 SETBP1, KIAA0437, SEB, MRD29 SET-binding protein 1 SETBP1 26040 ENSG00000152217 fused with NUP98 in ALL Mental retardation, autosomal dominant 29, 616078 (3), Autosomal dominant; Schinzel-Giedion midface retraction syndrome, 269150 (3), Autosomal dominant Setbp1 (MGI:1933199)
chr18 45202957 45683685 18q12.1-q21.1 18q12.3 601611 SLC14A2, UT2, UTR Solute carrier family 14 (urea transporter), member 2 SLC14A2 8170 ENSG00000132874 Slc14a2 (MGI:1351653)
chr18 45724122 45752519 18q11-q12 18q12.3 613868 SLC14A1, JK, UTE, UT1 Solute carrier family 14 (urea transporter), member 1 (Kidd blood group) SLC14A1 6563 ENSG00000141469 previous suggestion of chr.7 or chr.2 [Blood group, Kidd], 111000 (3) Slc14a1 (MGI:1351654)
chr18 45800585 45967338 18q12.3-q21.1 18q12.3-q21.1 615068 EPG5, KIAA1632, HEEW1, VICIS Ectopic P-granules autophagy protein 5, C. elegans, homolog of EPG5 57724 ENSG00000152223 Vici syndrome, 242840 (3), Autosomal recessive Epg5 (MGI:1918673)
chr18 45900000 63900000 18q21 606640 ALS3 Amyotrophic lateral sclerosis 3 ALS3 253 Amyotrophic lateral sclerosis 3, 606640 (2), Autosomal dominant
chr18 45900000 63900000 18q21.1-q21.3 600624 CORD1, CRD1 Cone rod dystrophy 1, autosomal dominant CORD1 1319 Cone-rod retinal dystrophy-1, 600624 (2), Autosomal dominant
chr18 45900000 63900000 18q21 601941 IDDM6 Insulin-dependent diabetes mellitus-6 IDDM6 3405 {Diabetes mellitus, insulin-dependent, 6}, 601941 (2)
chr18 45900000 63900000 18q21 182090 SSAV1 Simian sarcoma-associated virus-1/Gibbon ape leukemia virus 6739
chr18 45983535 46072326 18q21.1 18q21.1 616046 PSTPIP2, MAYP Proline/serine/threonine phosphatase-interacting protein 2 PSTPIP2 9050 ENSG00000152229 Pstpip2 (MGI:1335088)
chr18 46084143 46104232 18q12-q21 18q21.1 164360 ATP5A1, ATPM, ATP5A, ORM, MC5DN4, COXPD22 ATP synthase, H+ transporting (ATPase, mitochondrial) ATP5F1A 498 ENSG00000152234 pseudogenes on chr. 2, chr. 9, and chr.16; mutation identified in 1 MC5DN4 family and 1 COXPD22 family ?Combined oxidative phosphorylation deficiency 22, 616045 (3), Autosomal recessive; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3), Autosomal recessive Atp5a1 (MGI:88115)
chr18 46104331 46128332 18q21.1 18q21.1 608775 HAUS1, CCDC5, HEIC HAUS augmin-like complex, subunit 1 HAUS1 115106 ENSG00000152240 pseudogenes on 5, 8, and X Haus1 (MGI:2385076)
chr18 46476971 46657114 18q12-q21 18q21.1 613072 LOXHD1, DFNB77 Lipoxygenase homology domains-containing 1 LOXHD1 125336 ENSG00000167210 Deafness, autosomal recessive 77, 613079 (3), Autosomal recessive
chr18 46679117 46757168 18q21.1 18q21.1 607162 SIAT8E Sialyltransferase 8E ST8SIA5 29906 ENSG00000101638 St8sia5 (MGI:109243)
chr18 46917549 47104794 18q21.1 18q21.1 614697 KATNAL2 Katanin, p60 subunit, A-like protein 2 KATNAL2 83473 ENSG00000167216 Katnal2 (MGI:1924234)
chr18 47155018 47176373 18q21.1 18q21.1 609382 IER3IP1, MEDS Immediate-early response 3-interacting protein 1 IER3IP1 51124 ENSG00000134049 Microcephaly, epilepsy, and diabetes syndrome, 614231 (3), Autosomal recessive Ier3ip1 (MGI:1913441)
chr18 47206176 47249523 18q21.1 18q21.1 617138 SKOR2, FUSSEL18, CORL2 SKI family transcriptional corepressor 2 SKOR2 652991 ENSG00000215474 Skor2 (MGI:3645984)
chr18 47833094 47931187 18q21 18q21.1 601366 MADH2, JV18, SMAD2 Mothers against decapentaplegic, Drosophila, homolog of, 2 SMAD2 4087 ENSG00000175387 Smad2 (MGI:108051)
chr18 48026885 48412638 18q21 18q21.1 616591 ZBTB7C, APM1 Zinc finger- and BTB domain-containing protein 7C ZBTB7C 201501 ENSG00000184828 Zbtb7c (MGI:2443302)
chr18 48539055 48863216 18q21.1 18q21.1 613178 KIAA0427, CTIF KIAA0427 gene CTIF 9811 ENSG00000134030 Ctif (MGI:2685518)
chr18 48919852 48950710 18q21.1 18q21.1 602932 SMAD7, MADH7, CRCS3 Mothers against decapentaplegic, Drosophila, homolog of, 7 SMAD7 4092 ENSG00000101665 {Colorectal cancer, susceptibility to, 3}, 612229 (3) Smad7 (MGI:1100518)
chr18 49041473 49460732 18q12-q21.1 18q21.1 607461 DYM, FLJ90130, DMC, SMC Dymeclin DYM 54808 ENSG00000141627 Dyggve-Melchior-Clausen disease, 223800 (3), Autosomal recessive; Smith-McCort dysplasia, 607326 (3), Autosomal recessive Dym (MGI:1918480)
chr18 49488480 49492564 18q 18q21.1 603661 RPL17 Ribosomal protein L17 RPL17 6139 ENSG00000265681 Rpl17-ps8,Rpl17 (MGI:2448270,MGI:3802129)
chr18 49560698 49592907 18q21.1 18q21.1 603684 LIPG, EL, EDL Lipase G, endothelial LIPG 9388 ENSG00000101670 Lipg (MGI:1341803)
chr18 49783503 49813880 18q21.1 18q21.1 604770 ACAA2 Acetyl-CoA acyltransferase 2 ACAA2 10449 ENSG00000167315 Acaa2 (MGI:1098623)
chr18 49814022 49814442 18q21.1 18q21.1 615645 SCARNA17 Small Cajal body-specific RNA 17 SCARNA17 677769
chr18 49822785 50195080 18q21 18q21.1 606540 MYO5B, KIAA1119 Myosin VB MYO5B 4645 ENSG00000167306 Microvillus inclusion disease, 251850 (3), Autosomal recessive Myo5b (MGI:106598)
chr18 50227192 50266521 18q21.1 18q21.1 614759 CCDC11, HTX6 Coiled-coil domain-containing protein 11 CFAP53 220136 ENSG00000172361 Heterotaxy, visceral, 6, autosomal recessive, 614779 (3), Autosomal recessive Cfap53 (MGI:1921703)
chr18 50266881 50281773 18q21.1 18q21.1 156535 MBD1, PCM1 Methyl=CpG binding domain protein 1 (protein containing methyl-CpG binding domain 1) MBD1 4152 ENSG00000141644 Mbd1 (MGI:1333811)
chr18 50375021 50394167 18q21.1 18q21.1 616673 SKA1, C18orf24 Spindle- and kinetochore-associated complex, subunit 1 SKA1 220134 ENSG00000154839 Ska1 (MGI:1913718)
chr18 50559771 50731825 18q12-q21 18q21.1-q21.2 176949 MAPK4, PRKM4, ERK3 Mitogen-activated protein kinase 4 MAPK4 5596 ENSG00000141639 Mapk4 (MGI:2444559)
chr18 50700000 56200000 18q21.2 611014 HYT8 Hypertension, essential, susceptibility to, 8 100188321 associated with rs1941958 and rs1893379 {Hypertension, essential, susceptibility to, 8}, 611014 (2)
chr18 50795119 50825412 18q21 18q21.2 608080 MRO, B29 Maestro MRO 83876 ENSG00000134042 Mro (MGI:2152817)
chr18 50878701 50949794 18q21 18q21.2 154270 ME2 Malic enzyme, mitochondrial ME2 4200 ENSG00000082212 10cM distal to F13A; previously mapped to chr.6 Me2 (MGI:2147351)
chr18 50968016 50988119 18q21 18q21.2 608079 ELAC1, D29 Elac, E. coli, homolog of, 1 ELAC1 55520 ENSG00000141642 Elac1 (MGI:1890495)
chr18 51030212 51085041 18q21.1 18q21.2 600993 SMAD4, MADH4, DPC4, JIP, MYHRS Mothers against decapentaplegic, Drosophila, homolog of, 4 SMAD4 4089 ENSG00000141646 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3), Autosomal dominant; Myhre syndrome, 139210 (3), Autosomal dominant; Pancreatic cancer, somatic, 260350 (3); Polyposis, juvenile intestinal, 174900 (3), Autosomal dominant Smad4 (MGI:894293)
chr18 51174549 51197680 18q21.2 18q21.2 611005 MEX3C, RKHD2 Mex-3, C. elegans, homolog of, C MEX3C 51320 ENSG00000176624 Mex3c (MGI:2652843)
chr18 52340171 53535902 18q21.3 18q21.2 120470 DCC, MRMV1, HGPPS2 Deleted in colorectal carcinoma DCC 1630 ENSG00000187323 Colorectal cancer, somatic, 114500 (3); Esophageal carcinoma, somatic, 133239 (3); Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3), Autosomal recessive; Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3), Autosomal dominant Dcc (MGI:94869)
chr18 54151600 54224787 18q21 18q21.2 603547 MBD2 Methyl-CpG-binding domain protein 2 MBD2 8932 ENSG00000134046 Mbd2 (MGI:1333813)
chr18 54269478 54321265 18q21.1 18q21.2 605252 POLI, RAD30B Polymerase, DNA, iota POLI 11201 ENSG00000101751 Poli (MGI:1347081)
chr18 54324591 54358461 18q21 18q21.2 607051 STARD6 Start domain-containing protein 6 STARD6 147323 ENSG00000174448 Stard6 (MGI:2156774)
chr18 54357913 54382034 18q21 18q21.2 613258 C18orf54, LAS2 Chromosome 18 open reading frame 54 C18orf54 162681 ENSG00000166845 4930503L19Rik (MGI:1922045)
chr18 54901508 54959538 18q21.2 18q21.2 616909 CCDC68 Coiled-coil domain-containing protein 68 CCDC68 80323 ENSG00000166510 Ccdc68 (MGI:3612676)
chr18 55222330 55635992 18q21.2 18q21.2 602272 TCF4, SEF2, ITF2, PTHS, FECD3 Transcription factor-4 (immunoglobulin transcription factor-2) TCF4 6925 ENSG00000196628 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3), Autosomal dominant; Pitt-Hopkins syndrome, 610954 (3), Autosomal dominant Tcf4 (MGI:98506)
chr18 56200000 63900000 18q21.3 212200 CNSN Carnosinemia (carnosinase) 8173 Carnosinemia, 212200 (2), Autosomal recessive
chr18 56602821 56638688 18q21.31 18q21.31 603049 TXNL1, TXNL Thioredoxin-like 1 TXNL1 9352 ENSG00000091164 Txnl1 (MGI:1860078)
chr18 56651358 57029804 18q21.3 18q21.31 613473 WDR7, TRAG, KIAA0541 WD repeat-containing protein 7 WDR7 23335 ENSG00000091157 Wdr7 (MGI:1860197)
chr18 57054558 57072118 18q21.2 18q21.31 615173 LINC-ROR Long intergenic noncoding RNA, regulator of reprogramming LINC-ROR 100885779
chr18 57435684 57491297 18q21.1-q21.2 18q21.31 604894 ONECUT2, OC2 One cut domain, family member 2 ONECUT2 9480 ENSG00000119547 Onecut2 (MGI:1891408)
chr18 57544840 57586736 18q21.3 18q21.31 612386 FECH, FCE Ferrochelatase FECH 2235 ENSG00000066926 Protoporphyria, erythropoietic, autosomal recessive, 177000 (3), Autosomal recessive Fech (MGI:95513)
chr18 57600655 57621944 18q21.1-q21.3 18q21.31 108410 NARS, ASNRS Asparaginyl-tRNA synthetase NARS 4677 ENSG00000134440 Nars (MGI:1917473)
chr18 57646425 57803821 18q21 18q21.31 602397 ATP8B1, FIC1, BRIC, PFIC1, ICP1 ATPase, class I, type 8B, member 1 ATP8B1 5205 ENSG00000081923 Cholestasis, benign recurrent intrahepatic, 243300 (3), Autosomal recessive; Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3), Autosomal dominant; Cholestasis, progressive familial intrahepatic 1, 211600 (3), Autosomal recessive Atp8b1 (MGI:1859665)
chr18 58044233 58401539 18q21 18q21.31 606384 NEDD4L, KIAA0439, RSP5, PVNH7 Ubiquitin protein ligase NEDD4-like NEDD4L 23327 ENSG00000049759 Periventricular nodular heterotopia 7, 617201 (3), Autosomal dominant Nedd4l (MGI:1933754)
chr18 58451073 58451157 18q21 18q21.31 609582 MIR122A, MIRN122A Micro RNA 122A MIR122 406906
chr18 58671385 58753805 18q21 18q21.32 604860 MALT1, MLT, IMD12 Mucosa-associated lymphoid tissue lymphoma translocation gene 1 MALT1 10892 ENSG00000172175 fused with API2 in MALT lymphoma Immunodeficiency 12, 615468 (3), Autosomal recessive Malt1 (MGI:2445027)
chr18 59219187 59230773 18q21 18q21.32 137260 GRP Gastrin-releasing peptide GRP 2922 ENSG00000134443 mammalian equivalent of bombesin Grp (MGI:95833)
chr18 59267034 59273392 18q21.3 18q21.32 601881 RAX, RX, MCOP3 Retina and anterior neural fold homeobox gene RAX 30062 ENSG00000134438 Microphthalmia, isolated 3, 611038 (3), Autosomal recessive Rax (MGI:109632)
chr18 59327822 59359275 18q21.3-q22 18q21.32 601567 LMAN1, ERGIC53, F5F8D, MCFD1 Lectin, mannose-binding, 1 LMAN1 3998 ENSG00000074695 Combined factor V and VIII deficiency, 227300 (3), Autosomal recessive Lman1 (MGI:1917611)
chr18 59430938 59698180 18q21.32 18q21.32 612753 CCBE1, KIAA1983, HKLLS1 Collagen and calcium-binding EGF domain-containing protein 1 CCBE1 147372 ENSG00000183287 Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3), Autosomal recessive Ccbe1 (MGI:2445053)
chr18 59899959 59904305 18q21.32 18q21.32 604959 PMAIP1, APR, NOXA Phorbol-12-myristate-13-acetate-induced protein 1 PMAIP1 5366 ENSG00000141682
chr18 60371330 60372767 18q22 18q21.32 155541 MC4R Melanocortin-4 receptor MC4R 4160 ENSG00000166603 Obesity, autosomal dominant, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial Mc4r (MGI:99457)
chr18 61333581 61555772 18q22-q23 18q21.33 605807 CDH20 Cadherin 20 CDH20 28316 ENSG00000101542 Cdh20 (MGI:1346069)
chr18 61808066 61894419 18q21.33 18q21.33 616512 RNF152 Ring finger protein 152 RNF152 220441 ENSG00000176641 Rnf152 (MGI:2443787)
chr18 62044223 62187117 18q21.33 18q21.33 606097 PIGN, MCAHS1 Phosphatidylinositol glycan, class N PIGN 23556 ENSG00000197563 Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3), Autosomal recessive Pign (MGI:1351629)
chr18 62325286 62388095 18q22.1 18q21.33 603499 TNFRSF11A, RANK, ODFR, FEO, OPTB7, PDB2 Tumor necrosis factor receptor superfamily, member 11A TNFRSF11A 8792 ENSG00000141655 Osteolysis, familial expansile, 174810 (3), Autosomal dominant; Osteopetrosis, autosomal recessive 7, 612301 (3); {Paget disease of bone 2, early-onset}, 602080 (3), Autosomal dominant Tnfrsf11a (MGI:1314891)
chr18 62715438 62980442 18q21.33 18q21.33 609396 PHLPP1, SCOP, KIAA0606 PH domain and leucine-rich repeat protein phosphatase PHLPP1 23239 ENSG00000081913 Phlpp1 (MGI:2138327)
chr18 63123345 63320279 18q21.3 18q21.33 151430 BCL2 B-cell CLL/lymphoma-2 BCL2 596 ENSG00000171791 most frequent hematologic malignancy t(14;18)(q32;q21) Leukemia/lymphoma, B-cell, 2 (3) Bcl2 (MGI:88138)
chr18 63327735 63367272 18q21.3 18q21.33 136440 KDSR, FVT1, EKVP4 3-ketodihydrosphingosine reductase KDSR 2531 ENSG00000119537 ~10kb 5' to BCL2 Erythrokeratodermia variabilis et progressiva 4, 617526 (3), Autosomal recessive Kdsr (MGI:1918000)
chr18 63389189 63422518 18q21.3 18q21.33 609983 VPS4B, SKD1 Vacuolar protein sorting 4, yeast, homolog of, B VPS4B 9525 ENSG00000119541 Vps4b (MGI:1100499)
chr18 63476910 63505084 18q21.3 18q21.33 154790 PI5, SERPINB5 Protease inhibitor 5 (maspin) SERPINB5 5268 ENSG00000206075 in cluster of serpins Serpinb5 (MGI:109579)
chr18 63519163 63569328 18q21.3 18q21.33 615662 SERPINB12 Serpin peptidase inhibitor, clade (ovalbumin), member 12 SERPINB12 89777 ENSG00000166634 Serpinb12 (MGI:1919119)
chr18 63586653 63599198 18q21.3 18q21.33 604445 SERPINB13, PI13, HURPIN Protease inhibitor 13 SERPINB13 5275 ENSG00000197641 Serpinb13 (MGI:3042250)
chr18 63637258 63644318 18q21.3 18q21.33 600518 SERPINB4, SCCA2 Serpin peptidase inhibitor, clade B (ovalbumin), member 4 (squamous cell carcinoma antigen 2) SERPINB4 6318 ENSG00000206073 Serpinb3a (MGI:3573933)
chr18 63655196 63661962 18q21.3 18q21.33 600517 SERPINB3, SCCA1 Serpin peptidase inhibitor, clade B (ovalbumin), member 3 (squamous cell carcinoma antigen 1) SERPINB3 6317 ENSG00000057149 Serpinb3d (MGI:2683295)
chr18 63702303 63723892 18q21.3 18q21.33 615682 SERPINB11 Serpin peptidase inhibitor, clade B (ovalbumin), member 11 SERPINB11 89778 ENSG00000206072 Serpinb11 (MGI:1914207)
chr18 63753046 63805375 18q21.3 18q21.33 603357 SERPINB7, MEGSIN, PPKN Serpin peptidase inhibitor, clade B (ovalbumin), member 7 SERPINB7 8710 ENSG00000166396 Palmoplantar keratoderma, Nagashima type, 615598 (3), Autosomal recessive Serpinb7 (MGI:2151053)
chr18 63887704 63903889 18q21.3 18q21.3-q22.1 173390 SERPINB2, PAI2, PLANH2 Serpin peptidase inhibitor, clade B (ovalbumin), member 2 (Plasminogen activator inhibitor, type II (arginine-serpin)) SERPINB2 5055 ENSG00000197632 600kb telomeric to BCL2 Serpinb2 (MGI:97609)
chr18 63900000 75400000 18q22 609334 DUP18pDEL18q, DUP18qDEL18p Chromosome 18 pericentric inversion Chromosome 18 pericentric inversion, 609334 (4)
chr18 63900000 75400000 18q22.1-q22.3 602401 ECTD8 Ectodermal dysplasia 8, hair/tooth/nail type 101101768 between D18S857 and D18S815 Ectodermal dysplasia 8, hair/tooth/nail type, 602401 (2), Autosomal recessive
chr18 63907968 63936110 18q21.3 18q22.1 602058 SERPINB10, PI10 Protease inhibitor 10, ovalbumin type (bomapin) SERPINB10 5273 ENSG00000242550 Serpinb10 (MGI:2138648)
chr18 63949258 63969328 18q21.3 18q22.1 612086 HMSD Minor histocompatibility antigen, serpin domain-containing HMSD 284293 ENSG00000221887
chr18 63970027 64019778 18q21.3 18q22.1 601697 SERPINB8, PI8, CAP2, PSS5 Serpin family B, member 8 SERPINB8 5271 ENSG00000166401 Peeling skin syndrome 5, 617115 (3), Autosomal recessive Serpinb8 (MGI:894657)
chr18 64080008 64149025 18q22.1 18q22.1 617489 LINC00305 Long intergenic noncoding RNA 305 LINC00305 221241
chr18 65750251 65885135 18q22-q23 18q22.1 605806 CDH7 Cadherin-7 CDH7 1005 ENSG00000081138 Cdh7 (MGI:2442792)
chr18 66501186 66604240 18q22-q23 18q22.1 603016 CDH19, CDH7 Cadherin 19 CDH19 28513 ENSG00000071991 Cdh19 (MGI:3588198)
chr18 67506581 67516729 18q21-q22 18q22.1 611125 DSEL, C18orf4, NCAG1 Dermatan sulfate epimerase-like DSEL 92126 ENSG00000171451 Dsel (MGI:2442948)
chr18 68673687 68715172 18q22.1 18q22.1 616102 TMX3, TXNDC10, KIAA1830 Thioredoxin-related transmembrane protein 3 TMX3 54495 ENSG00000166479 Tmx3 (MGI:2442418)
chr18 69860227 69962085 18q22.3 18q22.2 605397 DNAM1, CD226 DNAX accessory molecule 1 CD226 10666 ENSG00000150637 Cd226 (MGI:3039602)
chr18 70003803 70205725 18q22.2 18q22.2 610436 RTTN, MSSP Rotatin RTTN 25914 ENSG00000176225 Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3), Autosomal recessive Rttn (MGI:2179288)
chr18 70288900 70330198 18q21.1 18q22.2 605118 SOCS6, SSI4, STAT4, CIS4 Suppressor of cytokine signaling 6 SOCS6 9306 ENSG00000170677 Socs6 (MGI:1924885)
chr18 72533719 72638484 18q22.3 18q22.3 600433 CBLN2 Cerebellin 2 precursor CBLN2 147381 ENSG00000141668 Cbln2 (MGI:88282)
chr18 72742313 72867671 18q22-q23 18q22.3 607973 NETO1, BCTL1 Neuropilin and tolloid like 1 NETO1 81832 ENSG00000166342 Neto1 (MGI:2180216)
chr18 74073342 74147864 18q22.3 18q22.3 609093 FBXO15, FBX15 F-box only protein 15 FBXO15 201456 ENSG00000141665 Fbxo15 (MGI:1354755)
chr18 74148510 74158968 18q22.3 18q22.3 615180 TIMM21, TIM21 Translocase of inner mitochondrial membrane 21, yeast, homolog of TIMM21 29090 ENSG00000075336 Timm21 (MGI:1920595)
chr18 74253291 74292015 18q23 18q22.3 613218 CYB5A, MCB5 Cytochrome b5 CYB5A 1528 ENSG00000166347 pseudogenes on X, 14q, 20p; mutation identified in 1 MET5 patient ?Methemoglobinemia, type IV, 250790 (3), Autosomal recessive Cyb5a (MGI:1926952)
chr18 74435727 74464645 18q22.3 18q22.3 614544 FAM69C Family with sequence similarity 69, member C FAM69C 125704 ENSG00000187773 Fam69c (MGI:3041188)
chr18 74496264 74523453 18q23 18q22.3 169800 PEPA Peptidase A CNDP2 55748 ENSG00000133313 Cndp2 (MGI:1913304)
chr18 74534456 74585024 18q22.3 18q22.3 609064 CNDP1, CN1 Carnosine dipeptidase 1 CNDP1 84735 ENSG00000150656 Cndp1 (MGI:2451097)
chr18 74590474 75065671 18q22.3 18q22.3 615894 ZNF407 Zinc finger protein 407 ZNF407 55628 ENSG00000215421 Zfp407 (MGI:2685179)
chr18 75210754 75289949 18q22.3 18q22.3 614427 TSHZ1, TSH1, CAA Teashirt zinc finger homeobox 1 TSHZ1 10194 ENSG00000179981 Aural atresia, congenital, 607842 (3), Autosomal dominant Tshz1 (MGI:1346031)
chr18 76357681 76495254 18q23 18q23 615114 ZNF516, KIAA0222 Zinc finger protein 516 ZNF516 9658 ENSG00000101493 Zfp516 (MGI:2443957)
chr18 76822549 76970731 18q22-q23 18q23 604760 ZNF236 Zinc finger protein-236 ZNF236 7776 ENSG00000130856 Zfp236 (MGI:1926950)
chr18 76978832 77133707 18q22-qter 18q23 159430 MBP Myelin basic protein MBP 4155 ENSG00000197971 defective in "shiverer," neurologic mutant in mouse Mbp (MGI:96925)
chr18 77250051 77270141 18q23 18q23 600377 GALR1, GALNR1, GALNR Galanin receptor 1 GALR1 2587 ENSG00000166573 Galr1 (MGI:1096364)
chr18 78980274 78998968 18q23 18q23 605079 SALL3 Sal-like 3 SALL3 27164 ENSG00000256463 Sall3 (MGI:109295)
chr18 79069274 79378390 18q22.3-qter 18q23 614446 ATP9B ATPase, class II, type 9B ATP9B 374868 ENSG00000166377 Atp9b (MGI:1354757)
chr18 79395771 79529322 18q23 18q23 600489 NFATC1 Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 1 NFATC1 4772 ENSG00000131196 Nfatc1 (MGI:102469)
chr18 79679800 79754509 18q23 18q23 604927 CTDP1, FCP1, CCFDN C-terminal domain of RNA polymerase II subunit A, phosphatase of, subunit 1 CTDP1 9150 ENSG00000060069 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3), Autosomal recessive Ctdp1 (MGI:1926953)
chr18 79972866 80033934 18q23 18q23 611595 TXNL4A, DIM1, BMKS Thioredoxin-like 4A TXNL4A 10907 ENSG00000141759 Burn-McKeown syndrome, 608572 (3), Autosomal recessive Txnl4a (MGI:1351613)
chr18 80109030 80140345 18q23 18q23 617422 ADNP2, KIAA0863 Activity-dependent neuroprotector homeobox 2 ADNP2 22850 ENSG00000101544 Adnp2 (MGI:2448562)
chr18 80157231 80247513 18q23 18q23 608976 PARD6G partitioning-defective protein 6, C. elegans, homolog of PARD6G 84552 ENSG00000178184 Pard6g (MGI:2135606)
chr19 0 12600000 19p13.3-p13.2 108725 ATHS, ALP Atherosclerosis susceptibility (lipoprotein associated) ATHS 470 closely linked to LDLR; may be LDLR {Atherosclerosis, susceptibility to}, 108725 (2), Autosomal dominant
chr19 0 58617616 19pter-q13 120050 CXB3S Coxsackie virus B3 sensitivity CXB3S 1526
chr19 0 26200000 19p 600209 EXT3 Exostoses, multiple, 3 EXT3 2133 Exostoses, multiple, type 3, 600209 (2), Autosomal dominant
chr19 0 6900000 19p13.3 602477 FEB2 Febrile seizures, familial, 2 FEB2 2234 Febrile seizures, familial, 2, 602477 (2), Autosomal dominant
chr19 0 19900000 19pter-p13.1 614233 FPH1, MUH, HPP Hyperpigmentation, familial progressive, 1 Hyperpigmentation, familial progressive, 1, 614233 (2)
chr19 0 19900000 19p13 606674 IBD6 Inflammatory bowel disease 6 IBD6 50942 {Inflammatory bowel disease 6}, 606674 (2)
chr19 0 6900000 19p13.3 181800 IS1, AIS Adolescent idiopathic scoliosis 260402 Scoliosis, idiopathic 1, 181800 (2), Autosomal dominant
chr19 0 6900000 19p13.3 605305 KIR2DL5A, KIR2DL5 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A KIR2DL5A 57292
chr19 0 6900000 19p13.3 601846 MDRV Muscular dystrophy with rimmed vacuoles MDRV 4195 Muscular dystrophy with rimmed vacuoles, 601846 (2), Autosomal dominant
chr19 0 19900000 19p13 607508 MGR5 Migraine with or without aura, susceptibility to, 5 387576 {Migraine with or without aura, susceptibility to, 5}, 607508 (2), Autosomal dominant
chr19 0 19900000 19p13 615830 PPNAD4 Pigmented nodular adrenocortical disease, primary, 4 duplication of 294kb to 2.7Mb on 19p13 Pigmented nodular adrenocortical disease, primary, 4, 615830 (4), Autosomal dominant
chr19 0 19900000 19p13 605364 PSORS6 Psoriasis susceptibility 6 PSORS6 63869 {Psoriasis susceptibility 6}, 605364 (2)
chr19 281039 291434 19p13.3 19p13.3 607126 PLPP2, PPAP2C Phospholipid phosphatase 2 PLPP2 8612 ENSG00000141934 Plpp2 (MGI:1354945)
chr19 362056 376692 19p13.3 19p13.3 609503 THEG Testicular haploid expressed gene, mouse, homolog of THEG 51298 ENSG00000105549 Theg (MGI:1338756)
chr19 405434 409169 19p13.3 19p13.3 610336 C2CD4C, NLF3, KIAA1957 C2 calcium-dependent domain containing 4C C2CD4C 126567 ENSG00000183186 C2cd4c (MGI:2685084)
chr19 416582 461010 19p13.3 19p13.3 605217 SHC2, SHCB, SCK SHC transforming protein 2 SHC2 25759 ENSG00000129946 Shc2 (MGI:106180)
chr19 496489 505342 19p13.3 19p13.3 102670 MACAM1 Mucosal addressin cell adhesion molecule-1 MADCAM1 8174 ENSG00000099866
chr19 531719 542087 19p13.3 19p13.3 116948 CDC34 Cell division cycle 34 CDC34 997 ENSG00000099804 Cdc34 (MGI:102657)
chr19 544033 549919 19p13.3 19p13.3 600311 GZMM Granzyme M (lymphocyte met-ase 1) GZMM 3004 ENSG00000197540 Gzmm (MGI:99549)
chr19 571276 583492 19p13.3 19p13.3 109480 BSG Basigin (blood group OK) BSG 682 ENSG00000172270 [Blood group, OK], 111380 (3) Bsg (MGI:88208)
chr19 589892 617158 19p13.3 19p13.3 602781 HCN2, BCNG2 Hyperpolarization-activated cyclic nucleotide-gated potassium channel 2 HCN2 610 ENSG00000099822 Hcn2 (MGI:1298210)
chr19 617220 633567 19p13.3 19p13.3 601778 POLRMT, APOLMT Polymerase (RNA) mitochondrial (DNA directed) POLRMT 5442 ENSG00000099821 Polrmt (MGI:1915843)
chr19 639894 643702 19p13.3 19p13.3 605831 FGF22 Fibroblast growth factor 22 FGF22 27006 ENSG00000070388 Fgf22 (MGI:1914362)
chr19 647525 663232 19p13.3 19p13.3 615177 RNF126 RING finger protein 126 RNF126 55658 ENSG00000070423 Rnf126 (MGI:1917544)
chr19 676388 683391 19p13 19p13.3 605343 FSTL3, FLRG Follistatin-like 3 FSTL3 10272 ENSG00000070404 Fstl3 (MGI:1890391)
chr19 708952 748329 19p13.3 19p13.3 608134 PALM, KIAA0270 Paralemmin PALM 5064 ENSG00000099864 Palm (MGI:1261814)
chr19 748412 764318 19p13.3 19p13.3 615289 MISP, C19orf21 Mitotic spindle-positioning protein MISP 126353 ENSG00000099812 Misp (MGI:1926156)
chr19 797391 812326 19p13.3 19p13.3 600693 PTBP1, PTB, HNRNPI Polypyrimidine tract-binding protein 1 PTBP1 5725 ENSG00000011304 pseudogene on chr. 14 Ptbp1 (MGI:97791)
chr19 810965 824243 19p13.3 19p13.3 610391 PLPPR3, LPPR3, LPR3, PRG2 Phospholipid phosphatase-related protein 3 PLPPR3 79948 ENSG00000129951 Plppr3 (MGI:2388640)
chr19 827825 832017 19p13.3 19p13.3 162815 AZU1, CAP37 Azurocidin-1 (cationic antimicrobial protein-37) AZU1 566 ENSG00000172232 5\(rm-AZU1-8kb-PR3-3kb-ELAN-3'
chr19 840964 848174 19p13.3 19p13.3 177020 PRTN3, AGP7 Proteinase-3 (serine proteinase, neutrophil, Wegener granulomatosis autoantigen) PRTN3 5657 ENSG00000196415 Prtn3 (MGI:893580)
chr19 850996 856249 19p13.3 19p13.3 130130 ELANE, ELA2, SCN1 Elastase, neutrophil-expressed ELANE 1991 ENSG00000197561 Neutropenia, cyclic, 162800 (3), Autosomal dominant; Neutropenia, severe congenital 1, autosomal dominant, 202700 (3), Autosomal dominant Elane (MGI:2679229)
chr19 859658 863568 19p13.3 19p13.3 134350 CFD, ADN Complement factor D CFD 1675 ENSG00000197766 Complement factor D deficiency, 613912 (3), Autosomal recessive Cfd (MGI:87931)
chr19 916692 921014 19p13.3 19p13.3 604161 KISS1R, GPR54, HH8, CPPB1 KISS1 receptor KISS1R 84634 ENSG00000116014 mutation identified in 1 CPPB1 patient Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3), Autosomal recessive; ?Precocious puberty, central, 1, 176400 (3), Autosomal dominant Kiss1r (MGI:2148793)
chr19 925732 975933 19p13.3 19p13.3 603265 DRIL1 Dead ringer, Drosophila, homolog-like 1 ARID3A 1820 ENSG00000116017 Arid3a (MGI:1328360)
chr19 1009650 1021141 19p13.3 19p13.3 611011 TMEM259, C19orf6 Transmembrane protein 259 (membralin) TMEM259 91304 ENSG00000182087 Tmem259 (MGI:2177957)
chr19 1026274 1039067 19p13.3 19p13.3 602373 CNN2 Calonin 2 CNN2 1265 ENSG00000064666 previously assigned to 21q11.1 Cnn2 (MGI:105093)
chr19 1040102 1065571 19p13.3 19p13.3 605414 ABCA7, ABCX, AD9 ATP-binding cassette, subfamily A, member 7 ABCA7 10347 ENSG00000064687 {Alzheimer disease 9, susceptibility to}, 608907 (3), Autosomal dominant Abca7 (MGI:1351646)
chr19 1065922 1087830 19p13.3 19p13.3 601155 HMHA1, HLA-HA1, KIAA0223 Minor histocompatibility antigen HA-1 ARHGAP45 23526 ENSG00000180448 Arhgap45 (MGI:1917969)
chr19 1086578 1095391 19p13.3 19p13.3 180664 POLR2E Polymerase (RNA) II (DNA directed) polypeptide E, 25kD POLR2E 5434 ENSG00000099817 Polr2e (MGI:1913670)
chr19 1103925 1106788 19p13.3 19p13.3 138322 GPX4, SMDS Glutathione peroxidase-4 (phospholipid hydroperoxidase) GPX4 2879 ENSG00000167468 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3), Autosomal recessive Gpx4 (MGI:104767)
chr19 1107633 1174282 19p13.3 19p13.3 615729 SBNO2, KIAA0963 Strawberry notch, Drosophila, homolog of, 2 SBNO2 22904 ENSG00000064932 Sbno2 (MGI:2448490)
chr19 1205798 1228434 19p13.3 19p13.3 602216 STK11, PJS, LKB1 Serine/threonine protein kinase-11 STK11 6794 ENSG00000118046 Melanoma, malignant, somatic (3); Pancreatic cancer, 260350 (3), Autosomal dominant, Somatic mutation, Multifactorial; Peutz-Jeghers syndrome, 175200 (3), Autosomal dominant; Testicular tumor, somatic, 273300 (3) Stk11 (MGI:1341870)
chr19 1241749 1244824 19p13.3 19p13.3 603150 ATP5D ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit ATP5F1D 513 ENSG00000099624 Atp5d (MGI:1913293)
chr19 1248551 1259142 19p13.3 19p13.3 606700 MIDN Midnolin, mouse, homolog of MIDN 90007 ENSG00000167470 Midn (MGI:1890222)
chr19 1269265 1274809 19p13.3 19p13.3 602649 CIRBP Cold-inducible RNA-binding protein CIRBP 1153 ENSG00000099622 Cirbp (MGI:893588)
chr19 1282816 1301430 19p13.3 19p13.3 602756 EFNA2, EPLG6, LERK6 Ephrin A2 EFNA2 1943 ENSG00000099617 Efna2 (MGI:102707)
chr19 1383883 1395588 19p13 19p13.3 601825 NDUFS7, PSST NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kD (NADH-coenzyme Q reductase) NDUFS7 374291 ENSG00000115286 Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial Ndufs7 (MGI:1922656)
chr19 1397025 1401569 19p13.3 19p13.3 601240 GAMT, CCDS2 Guanidinoacetate methyltransferase GAMT 2593 ENSG00000130005 Cerebral creatine deficiency syndrome 2, 612736 (3), Autosomal recessive Gamt (MGI:1098221)
chr19 1438363 1440496 19p 19p13.3 180535 RPS15, RIG Ribosomal protein S15 RPS15 6209 ENSG00000115268 Rps15 (MGI:98117)
chr19 1446267 1473243 19p13.3 19p13.3 612034 APC2, APCL, SOTOS3 APC2 gene APC2 10297 ENSG00000115266 mutation identified in 1 SOTOS3 family ?Sotos syndrome 3, 617169 (3), Autosomal recessive Apc2 (MGI:1346052)
chr19 1481427 1490873 19p13.3 19p13.3 600487 PCSK4 Proprotein convertase subtilisin/kexin type 4 PCSK4 54760 ENSG00000115257 Pcsk4 (MGI:97514)
chr19 1491004 1497926 19p13.3 19p13.3 609346 REEP6, DP1L1, TB2L1, C19orf32, RP77 Receptor expression-enhancing protein 6 REEP6 92840 ENSG00000115255 Retinitis pigmentosa 77, 617304 (3), Autosomal recessive Reep6 (MGI:1917585)
chr19 1554668 1568057 19p13.3 19p13.3 611009 MEX3D, RKHD1, TINO, KIAA2031 Mex-3, C. elegans, homolog of, D MEX3D 399664 ENSG00000181588 Mex3d (MGI:2681847)
chr19 1576670 1592760 19p13.3 19p13.3 603573 MBD3 Methyl-CpG-binding domain protein 3 MBD3 53615 ENSG00000071655 Mbd3 (MGI:1333812)
chr19 1597154 1605483 19p13.3 19p13.3 609711 UQCR Ubiquinol-cytochrome c reductase, 6.4kD subunit UQCR11 10975 ENSG00000127540 Uqcr11 (MGI:1913844)
chr19 1609283 1652545 19p13.3 19p13.3 147141 TCF3, E2A, AGM8 Transcription factor-3 (E2A immunoglobulin enhancer-binding factors E12/E47) TCF3 6929 ENSG00000071564 Agammaglobulinemia 8, autosomal dominant, 616941 (3), Autosomal dominant Tcf3 (MGI:98510)
chr19 1753662 1775444 19p13.3 19p13.3 611294 ONECUT3, OC3 One cut homeobox 3 ONECUT3 390874 ENSG00000205922
chr19 1782067 1812275 19p13.3 19p13.3 605866 ATP8B3, ATPIK ATPase, class I, type 8B, member 3 ATP8B3 148229 ENSG00000130270 Atp8b3 (MGI:1914581)
chr19 1815245 1848682 19p13.3 19p13.3 609614 REXO1, REX1, ELOABP1, TCEB3BP1 RNA exonuclease 1, S. cerevisiae, homolog of REXO1 57455 ENSG00000079313 Rexo1 (MGI:1914182)
chr19 1816158 1816237 19p13.3 19p13.3 615201 MIR1909 Micro RNA 1909 MIR1909 100302210
chr19 1852398 1863564 19p13.3 19p13.3 606139 KLF16, BTEB4, DRRF Kruppel-like factor 16 KLF16 83855 ENSG00000129911
chr19 1905213 1913446 19p13.3 19p13.3 615302 ADAT3, TAD3, MRT36 Adenosine deaminase, tRNA-specific, 3 ADAT3 113179 ENSG00000213638 Mental retardation, autosomal recessive 36, 615286 (3), Autosomal recessive Adat3 (MGI:1924344)
chr19 1905213 1926016 19p13.3 19p13.3 613764 SCAMP4 Secretory carrier membrane protein 4 SCAMP4 113178 ENSG00000227500 Scamp4 (MGI:1928947)
chr19 1941148 1981337 19p13.3 19p13.3 602214 CSNK1G2 Casein kinase 1, gamma-2 CSNK1G2 1455 ENSG00000133275 Csnk1g2 (MGI:1920014)
chr19 2037470 2051277 19p13.3 19p13.3 605069 MKNK2, MNK2, GPRK7 Mitogen-activated protein kinase-interacting serine/threonine kinase-2 MKNK2 2872 ENSG00000099875 Mknk2 (MGI:894279)
chr19 2100987 2151625 19p13.3 19p13.3 607246 AP3D1, HPS10 Adaptor-related protein complex 3, delta-1 subunit AP3D1 8943 ENSG00000065000 mutation identified in 1 HPS10 patient ?Hermansky-Pudlak syndrome 10, 617050 (3), Autosomal recessive Ap3d1 (MGI:107734)
chr19 2163962 2232577 19p13.3 19p13.3 607375 DOT1L, DOT1, KIAA1814 Dot1, yeast, homolog of DOT1L 84444 ENSG00000104885 Dot1l (MGI:2143886)
chr19 2229951 2236723 19p13.3 19p13.3 617834 PLEKHJ1, GNRPX Pleckstrin homology domain-containing protein, family J, member 1 PLEKHJ1 55111 ENSG00000104886 Plekhj1 (MGI:1925920)
chr19 2236816 2248678 19p13.3-p13.2 19p13.3 600796 SF3A2, SAP62, PRP11 Splicing factor 3a, subunit 2, 66kD SF3A2 8175 ENSG00000104897
chr19 2249278 2252072 19p13.3-p13.2 19p13.3 600957 AMH, MIF Anti-Mullerian hormone AMH 268 ENSG00000104899 Persistent Mullerian duct syndrome, type I, 261550 (3), Autosomal recessive Amh (MGI:88006)
chr19 2252250 2260812 19p13.3 19p13.3 608743 JSRP1, JP45 Junctional sarcoplasmic reticulum protein 1 JSRP1 126306 ENSG00000167476 Jsrp1 (MGI:1916700)
chr19 2269485 2273487 19p13.3 19p13.3 601579 OAZ1 Ornithine decarboxylase antizyme 1 OAZ1 4946 ENSG00000104904 Oaz1 (MGI:109433)
chr19 2289774 2308156 19p13.3 19p13.3 609792 LRRN6B, LINGO3, LERN2 Leucine-rich repeat protein, neuronal, 6B LINGO3 645191 ENSG00000220008 Lingo3 (MGI:3609246)
chr19 2321520 2328629 19p13.3 19p13.3 607287 LSM7 LSM7 protein LSM7 51690 ENSG00000130332 Lsm7 (MGI:1913344)
chr19 2328570 2355101 19p13.3 19p13.3 608239 SNPPL2B, IMP4, KIAA1532 Signal peptide peptidase-like 2B SPPL2B 56928 ENSG00000005206 Sppl2b (MGI:1920468)
chr19 2385253 2426260 19p13.3 19p13.3 610477 TMPRSS9 Transmembrane protease, serine 9 TMPRSS9 360200 ENSG00000178297 Tmprss9 (MGI:3612246)
chr19 2425623 2427915 19p13.3 19p13.3 607383 TIMM13 Translocase of inner mitochondrial membrane 13, yeast, homolog of TIMM13 26517 ENSG00000099800 Timm13 (MGI:1353432)
chr19 2428164 2456967 19p13.3 19p13.3 150341 LMNB2, LMN2, EPM9 Lamin B2 LMNB2 84823 ENSG00000176619 mutation identified in 1 EPM9 family ?Epilepsy, progressive myoclonic, 9, 616540 (3), Autosomal recessive; {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3), Autosomal dominant Lmnb2 (MGI:96796)
chr19 2476124 2478258 19p13.3 19p13.3 604948 GADD45B, MYD118 Growth arrest- and DNA damage-inducible gene 45, beta GADD45B 4616 ENSG00000099860 Gadd45b (MGI:107776)
chr19 2714566 2721391 19p13.3 19p13.3 607862 DIRAS1, RIG DIRAS family, GTP-binding Ras-like protein 1 DIRAS1 148252 ENSG00000176490 Diras1 (MGI:2183442)
chr19 2732523 2740075 19p13.3 19p13.3 612168 SLC39A3, ZIP3 Solute carrier family 39, zinc transporter, member 3 SLC39A3 29985 ENSG00000141873 Slc39a3 (MGI:2147269)
chr19 2754713 2783355 19p13 19p13.3 603419 SGTA, SGT Small glutamine-rich tetratricopeptide repeat-containing protein, alpha SGTA 6449 ENSG00000104969 Sgta (MGI:1098703)
chr19 2785459 2813603 19p13.3 19p13.3 601117 THOP1 Thimet oligopeptidase-1 THOP1 7064 ENSG00000172009 Thop1 (MGI:1354165)
chr19 2933217 2944970 19p 19p13.3 194551 ZNF77 Zinc finger protein-77 (pT1) ZNF77 58492 ENSG00000175691
chr19 2977409 2995183 19p13.3 19p13.3 612399 TLE6, GRG6, PREMBL Transducin-like enhancer of split 6 TLE6 79816 ENSG00000104953 Preimplantation embryonic lethality, 616814 (3), Autosomal recessive Tle6 (MGI:2149593)
chr19 2997637 3047634 19p13.3 19p13.3 601041 TLE2, ESG2 Transducin-like enhancer of split 2 (homolog of Drosophila E(spl)) TLE2 7089 ENSG00000065717 Tle2 (MGI:104635)
chr19 3052909 3063106 19p13.3 19p13.3 600188 AES Amino-terminal enhancer of split AES 166 ENSG00000104964 Aes (MGI:95806)
chr19 3094409 3124001 19p13 19p13.3 139313 GNA11, HHC2, HYPOC2 Guanine nucleotide-binding protein, Gq class, GNA11 GNA11 2767 ENSG00000088256 Hypocalcemia, autosomal dominant 2, 615361 (3), Autosomal dominant; Hypocalciuric hypercalcemia, type II, 145981 (3), Autosomal dominant Gna11 (MGI:95766)
chr19 3136031 3163768 19p13 19p13.3 139314 GNA15, GNA16 Guanine nucleotide-binding protein (G protein) alpha 15 (Gq class) GNA15 2769 ENSG00000060558 Gna15 (MGI:95770)
chr19 3178737 3180331 19p13.3 19p13.3 603751 S1PR4, EDG6, S1P4 Sphingosine-1-phosphate receptor 4 S1PR4 8698 ENSG00000125910 S1pr4 (MGI:1333809)
chr19 3224675 3297075 19p13 19p13.3 612680 CELF5, BRUNOL5 CUGbp- and ELAV-like family, member 5 CELF5 60680 ENSG00000161082 Celf5 (MGI:2442333)
chr19 3359562 3469216 19p13.3 19p13.3 600729 NFIC Nuclear factor I/C (CCAAT-binding transcription factor) NFIC 4782 ENSG00000141905 order: cen-NFIX-NFIC-tel Nfic (MGI:109591)
chr19 3490820 3500939 19p13.3 19p13.3 611262 DOHH, HLRC1 Deoxyhypusine hydroxylase DOHH 83475 ENSG00000129932 Dohh (MGI:1915964)
chr19 3506262 3536756 19p13.3 19p13.3 603619 HCDH, FZR CDH1/HCT1, S. cerevisiae, homolog of FZR1 51343 ENSG00000105325 Fzr1 (MGI:1926790)
chr19 3538269 3557591 19p13.3 19p13.3 617745 MFSD12, PP3501 Major facilitator superfamily domain-containing protein 12 MFSD12 126321 ENSG00000161091 Mfsd12 (MGI:3604804)
chr19 3572915 3579082 19p13.3 19p13.3 605535 HMG20B, BRAF35 High mobility group protein 20B HMG20B 10362 ENSG00000064961 Hmg20b (MGI:1341190)
chr19 3585530 3593540 19p13.3 19p13.3 608792 GIPC3, DFNB15, DFNB72, DFNB95 GAIP C-terminus-interacting protein 3 GIPC3 126326 ENSG00000179855 Deafness, autosomal recessive 15, 601869 (3), Autosomal recessive Gipc3 (MGI:2387006)
chr19 3594505 3608748 19p13.3 19p13.3 188070 TBXA2R, BDPLT13 Thromboxane A2 receptor TBXA2R 6915 ENSG00000006638 {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3), Autosomal dominant Tbxa2r (MGI:98496)
chr19 3630180 3700491 19p13.3 19p13.3 606102 PIP5K1C, LCCS3 Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma PIP5K1C 23396 ENSG00000186111 Lethal congenital contractural syndrome 3, 611369 (3), Autosomal recessive Pip5k1c (MGI:1298224)
chr19 3708336 3750812 19p13.3 19p13.3 612689 TJP3, ZO3 Tight junction protein 3 TJP3 27134 ENSG00000105289 Tjp3 (MGI:1351650)
chr19 3750772 3761695 19p13.3 19p13.3 604262 APBA3, X11L2, MINT3 Amyloid beta A4 precursor protein-binding, family A, member 3 APBA3 9546 ENSG00000011132 Apba3 (MGI:1888527)
chr19 3762666 3767564 19p13.3 19p13.3 611858 MRPL54 Mitochondrial ribosomal protein L54 MRPL54 116541 ENSG00000183617 Mrpl54 (MGI:1913297)
chr19 3769088 3772220 19p13.3 19p13.3 610362 RAX2, RAXL1, QRX, CORD11, ARMD6 Retina and anterior neural fold homeobox 2 RAX2 84839 ENSG00000173976 mutation identified in 1 ARMD6 patient Cone-rod dystrophy 11, 610381 (3), Autosomal dominant; ?Macular degeneration, age-related, 6, 613757 (3)
chr19 3777968 3801811 19p13.3 19p13.3 600038 MATK, HYL, CTK Megakaryocyte-associated tyrosine kinase MATK 4145 ENSG00000007264 Matk (MGI:99259)
chr19 3880619 3928081 19p13.3 19p13.3 608179 ATCAY, CLAC, KIAA1872 Caytaxin ATCAY 85300 ENSG00000167654 Ataxia, cerebellar, Cayman type, 601238 (3), Autosomal recessive Atcay (MGI:2448730)
chr19 3958452 3971122 19q13.3 19p13.3 603289 ZIPK ZIP kinase DAPK3 1613 ENSG00000167657 Dapk3 (MGI:1203520)
chr19 3976055 3985462 19pter-q12 19p13.3 130610 EEF2, EF2, SCA26 Eukaryotic translation elongation factor-2 EEF2 1938 ENSG00000167658 mutation identified in 1 family ?Spinocerebellar ataxia 26, 609306 (3), Autosomal dominant Eef2 (MGI:95288)
chr19 4007597 4039385 19p13.3 19p13.3 605989 PIAS4, PIASY Protein inhibitor of activated STAT4 PIAS4 51588 ENSG00000105229 Pias4 (MGI:2136940)
chr19 4043303 4066944 19p13.3 19p13.3 605878 ZBTB7A, FBI1, LRF Zinc finger and BTB domain containing 7A ZBTB7A 51341 ENSG00000178951 Zbtb7a (MGI:1335091)
chr19 4090320 4124183 19p13.3 19p13.3 601263 MAP2K2, PRKMK2, MEK2, MKK2, CFC4 Mitogen-activated protein kinase kinase 2 MAP2K2 5605 ENSG00000126934 previously assigned to 7q32 Cardiofaciocutaneous syndrome 4, 615280 (3) Map2k2 (MGI:1346867)
chr19 4153600 4173053 19p13.3 19p13.3 611998 CREB3L3, CREBH cAMP responsive element-binding protein 3-like 3 CREB3L3 84699 ENSG00000060566 Creb3l3 (MGI:2384786)
chr19 4174108 4182603 19p13.3 19p13.3 606211 SIRT6, SIR2L6 Sirtuin 6 (Sir2, S. cerevisiae, homolog of, 6) SIRT6 51548 ENSG00000077463 Sirt6 (MGI:1354161)
chr19 4229195 4237538 19p13.3 19p13.3 605816 EBI3 Epstein-Barr virus-induced gene 3 EBI3 10148 ENSG00000105246 Ebi3 (MGI:1354171)
chr19 4278600 4290722 19p13.3 19p13.3 610481 SHD SH2 domain-containing protein D SHD 56961 ENSG00000105251 Shd (MGI:1099461)
chr19 4292226 4302438 19p13.3 19p13.3 614715 TMIGD2, IGPR1 Transmembrane and immunoglobulin domains-containing protein 2 ` TMIGD2 126259 ENSG00000167664
chr19 4304593 4323845 19p13.3 19p13.3 609828 FSD1, GLFND Fibronectin type 3 and SPRY domains-containing protein 1 FSD1 79187 ENSG00000105255 Fsd1 (MGI:1934858)
chr19 4324042 4338876 19p13.3 19p13.3 607881 STAP2, BKS Signal-transducing adaptor protein 2 STAP2 55620 ENSG00000178078 Stap2 (MGI:2147039)
chr19 4360366 4400567 19p13.3 19p13.3 601768 SH3GL1, EEN SH3 domain GRB2-like 1 (Extra 11-19 leukemia fusion gene) SH3GL1 6455 ENSG00000141985 Leukemia, acute myeloid, 601626 (1), Autosomal dominant Sh3gl1 (MGI:700010)
chr19 4402595 4448321 19p13.3 19p13.3 601246 CHAF1A, CAF1B, CAF1P150 Chromatin assembly factor I, subunit A CHAF1A 10036 ENSG00000167670 Chaf1a (MGI:1351331)
chr19 4445005 4458758 19p13 19p13.3 611946 UBXN6, UBXD1 UBX domain protein 6 UBXN6 80700 ENSG00000167671 Ubxn6 (MGI:1913780)
chr19 4472195 4502219 19p13.3 19p13.3 617884 HDGFL2, HDGFRP2 Hepatoma-derived growth factor-like protein 2 HDGFL2 84717 ENSG00000167674 Hdgfl2 (MGI:1194492)
chr19 4502179 4520284 19p13.3 19p13.3 613247 PLIN4, KIAA1881 Perilipin 4 PLIN4 729359 ENSG00000167676 Plin4 (MGI:1929709)
chr19 4522530 4535195 19p13.3 19p13.3 613248 PLIN5, LSDP5 Perilipin 5 PLIN5 440503 ENSG00000214456 Plin5 (MGI:1914218)
chr19 4537214 4540023 19p13.3 19p13.3 611289 LRG1, LRG Leucine-rich alpha-2-glycoprotein 1 LRG1 116844 ENSG00000171236 Lrg1 (MGI:1924155)
chr19 4542587 4581483 19p13.3 19p13.3 608873 SEMA6B Semaphorin 6B SEMA6B 10501 ENSG00000167680 Sema6b (MGI:1202889)
chr19 4657544 4670402 19p13.3 19p13.3 606746 C19orf10, SF20, IL25 Stroma-derived growth factor 20 MYDGF 56005 ENSG00000074842 Mydgf (MGI:2156020)
chr19 4724069 4724140 19p13.3 19p13.3 615303 TRNAG3 Transfer RNA glycine 3 TRG-TCC1-1 7197
chr19 4724634 4724706 19p13.3 19p13.3 615304 TRNAV32 Transfer RNA valine 32 TRV-CAC3-1 100189416
chr19 4791715 4795558 19p13.3 19p13.3 613538 FEM1A Fem1, C. elegans, homolog of, A FEM1A 55527 ENSG00000141965 Fem1a (MGI:1335089)
chr19 4815923 4831741 19p13.3 19p13.3 607601 TICAM1, TRIF, IIAE6 TIR domain-containing adaptor molecule 1 TICAM1 148022 ENSG00000127666 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3), Autosomal recessive, Autosomal dominant Ticam1 (MGI:2147032)
chr19 4838333 4867767 19p13.3 19p13.3 602702 PLIN3, M6PRBP1, TIP47 Perilipin 3 PLIN3 10226 ENSG00000105355 Plin3 (MGI:1914155)
chr19 4903079 4962153 19p13.3 19p13.3 607990 UHRF1, ICBP90, NP95 Ubiquitin-like protein containing PHD and RING finger domains 1 UHRF1 29128 ENSG00000276043 Uhrf1 (MGI:1338889)
chr19 4969086 5153602 19p13.3 19p13.3 609765 KDM4B, JMJD2B, KIAA0876 Lysine-specific demethylase 4B KDM4B 23030 ENSG00000127663 Kdm4b (MGI:2442355)
chr19 5205502 5340802 19p13.3 19p13.3 601576 PTPRS Protein tyrosine phosphatase, receptor type, sigma PTPRS 5802 ENSG00000105426 Ptprs (MGI:97815)
chr19 5455414 5456855 19p13.3 19p13.3 612063 ZNRF4, SPERIZIN Zinc finger and ring finger protein 4 ZNRF4 148066 ENSG00000105428 Znrf4 (MGI:1341258)
chr19 5558166 5568033 19p13.3 19p13.3 615241 TINCR Terminal differentiation-induced noncoding RNA TINCR 257000
chr19 5586992 5622926 19p13.3 19p13.3 608066 SAFB2, KIAA0138 Scaffold attachment factor B2 SAFB2 9667 ENSG00000130254 Safb2 (MGI:2146808)
chr19 5623034 5668477 19p13.3-p13.2 19p13.3 602895 SAFB, HET Scaffold attachment factor B SAFB 6294 ENSG00000160633 Safb (MGI:2146974)
chr19 5678413 5680895 19p13.3 19p13.3 616658 C19orf70, MIC13, QIL1 Chromosome 19 open reading frame 70 C19orf70 125988 ENSG00000174917 2410015M20Rik (MGI:2442174)
chr19 5690260 5691666 19p13.3 19p13.3 617893 RPL36 Ribosomal protein L36 RPL36 25873 ENSG00000130255 Rpl36-ps12 (MGI:3782787)
chr19 5691833 5720451 19p13.2 19p13.3 605490 LONP1, PRSS15, LON, CODASS lon peptidase 1, mitochondrial LONP1 9361 ENSG00000196365 CODAS syndrome, 600373 (3), Autosomal recessive Lonp1 (MGI:1921392)
chr19 5720155 5778733 19p13.3 19p13.3 617490 CATSPERD, TMEM146 Cation channel, sperm-associated, auxiliary subunit delta CATSPERD 257062 ENSG00000174898 Catsperd (MGI:2147030)
chr19 5805386 5828323 19p13.3 19p13.3 602018 NRTN, NTN Neurturin NRTN 4902 ENSG00000171119 Nrtn (MGI:108417)
chr19 5830625 5840018 19p13.3 19p13.3 136836 FUT6 Fucosyltransferase 6 (alpha (1,3) fucosyltransferase) FUT6 2528 ENSG00000156413 in cluster with FUT3, FUT5 Fucosyltransferase 6 deficiency, 613852 (3)
chr19 5842887 5851473 19p13.3 19p13.3 111100 FUT3, LE Fucosyltransferase 3 FUT3 2525 ENSG00000171124 cen-FUT5-23kb-FUT3-14kb-FUT6-ter [Blood group, Lewis] (3)
chr19 5865825 5870539 19p13.3 19p13.3 136835 FUT5 Fucosyltransferase 5 (alpha (1,3) fucosyltransferase) FUT5 2527 ENSG00000130383 cen-FUT5-FUT3-FUT6-ter
chr19 5891275 5904012 19p13.3 19p13.3 612638 NDUFA11 NADH-dehydrogenase 1 alpha subcomplex, 11 NDUFA11 126328 ENSG00000174886 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufa11,Gm4943 (MGI:3645174,MGI:1917125)
chr19 5904840 5910251 19p13.3 19p13.3 617204 VMAC Vimentin-type intermediate filament-associated coiled-coil protein VMAC 400673 ENSG00000187650 Vmac (MGI:2146912)
chr19 5913643 5916210 19p13.3 19p13.3 114212 CAPS Calcyphosine CAPS 828 ENSG00000105519
chr19 5916138 5978308 19p13.3 19p13.3 603327 RANBP3 RAN-binding protein-3 RANBP3 8498 ENSG00000031823 Ranbp3 (MGI:1919060)
chr19 5993163 6110652 19p13.3-p13.2 19p13.3 142765 RFX2 Regulatory factor (trans-acting) 2 (influences HLA class II expression) RFX2 5990 ENSG00000087903 Rfx2 (MGI:106583)
chr19 6135632 6193102 19p13.3 19p13.3 614363 ACSBG2, BGR Acyl-CoA synthetase, bubblegum family, member 2 ACSBG2 81616 ENSG00000130377 Acsbg2 (MGI:3587728)
chr19 6210380 6279947 19p13.3 19p13.3 159556 MLLT1, ENL Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 1 MLLT1 4298 ENSG00000130382 fuses with ALL1 Mllt1 (MGI:1927238)
chr19 6306141 6360367 19p13.3 19p13.3 613491 ACER1 Alkaline ceraminidase 1 ACER1 125981 ENSG00000167769 Acer1 (MGI:2181962)
chr19 6361451 6368903 19p13.3 19p13.3 601119 CLPP, PRLTS3, DFNB81 ATP-dependent protease ClpAP, E. coli, proteolytic subunit, homolog of CLPP 8192 ENSG00000125656 Perrault syndrome 3, 614129 (3), Autosomal recessive Clpp (MGI:1858213)
chr19 6372432 6375249 19p13.3 19p13.3 613305 ALKBH7, ABH7 AlkB, E. coli, homolog of, 7 ALKBH7 84266 ENSG00000125652 Alkbh7 (MGI:1913650)
chr19 6375147 6375915 19p13.3 19p13.3 602921 PSPN Persephin PSPN 5623 ENSG00000125650 Pspn (MGI:1201684)
chr19 6379568 6393279 19p13.3 19p13.3 189968 GTF2F1, RAP74 General transcription factor IIF, polypeptide 1 (74kD subunit) GTF2F1 2962 ENSG00000125651 Gtf2f1 (MGI:1923848)
chr19 6413103 6424810 19p13.3 19p13.3 603445 KHSRP, KSRP, FUBP2, FBP2 KH-type splicing regulatory protein KHSRP 8570 ENSG00000088247 Khsrp (MGI:1336214)
chr19 6426036 6436266 19p13.3 19p13.3 610822 SLC25A41 Solute carrier family 25, member 41 SLC25A41 284427 ENSG00000181240 Slc25a41 (MGI:2144215)
chr19 6463776 6467220 19p13.3 19p13.3 609737 CRB3 Crumbs, Drosophila, homolog of, 3 CRB3 92359 ENSG00000130545
chr19 6467203 6481807 19p13.3 19p13.3 613634 DENND1C DENN/MADD domain-containing protein 1C DENND1C 79958 ENSG00000205744 Dennd1c (MGI:1918035)
chr19 6494318 6502847 19p13.3 19p13.3 602662 TUBB4A, DYT4, HLD6 Tubulin, beta-4A TUBB4A 10382 ENSG00000104833 Dystonia 4, torsion, autosomal dominant, 128101 (3), Autosomal dominant; Leukodystrophy, hypomyelinating, 6, 612438 (3), Autosomal dominant Tubb4a (MGI:107848)
chr19 6530998 6535927 19p13.3 19p13.3 606182 TNFSF9 Tumor necrosis factor ligand superfamily, member 9 TNFSF9 8744 ENSG00000125657
chr19 6581645 6591151 19p13 19p13.3 602840 TNFSF7, CD70, CD27L Tumor necrosis factor ligand superfamily, member 7 (CD70 antigen) CD70 970 ENSG00000125726 Cd70 (MGI:1195273)
chr19 6658125 6670594 19p13.3 19p13.3 604520 TNFSF14, HVEML Tumor necrosis factor ligand superfamily, member 14 TNFSF14 8740 ENSG00000125735 Tnfsf14 (MGI:1355317)
chr19 6677834 6720681 19p13.3-p13.2 19p13.3 120700 C3, ARMD9, AHUS5 Complement component-3 C3 718 ENSG00000125730 LE ~7cM in males vs. C3 RFLP C3 deficiency, 613779 (3), Autosomal recessive; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3), Autosomal dominant; {Macular degeneration, age-related, 9}, 611378 (3) C3 (MGI:88227)
chr19 6739681 6751525 19p13.3 19p13.3 604504 TRIP10, CIP4 Thyroid hormone receptor interactor 10 TRIP10 9322 ENSG00000125733 Trip10 (MGI:2146901)
chr19 6772667 6857365 19p13.3-p13.2 19p13.3 164875 VAV1, VAV Oncogene VAV1 VAV1 7409 ENSG00000141968 close to INSR Vav1 (MGI:98923)
chr19 6887548 6940452 19p13.3 19p13.3-p13.2 600493 ADGRE1, EMR1 Adhesion G protein-coupled receptor E1 ADGRE1 2015 ENSG00000174837 Adgre1 (MGI:106912)
chr19 6900000 50900000 19p13.2-q13.3 164953 LPSA, D19S381E Oncogene liposarcoma (DNA segment, single copy, expressed, probes MC15, MC6) 8177 Liposarcoma (1)
chr19 6900000 12600000 19p13.2 614223 NRCLP6 Narcolepsy 6 100689216 associated with rs2305795 Narcolepsy 6, 614223 (2)
chr19 6900000 19900000 19p13.2-p13.1 607324 PAPA3 Polydactyly, postaxial, type A3 338333 between D19S1165 and D19S929 Polydactyly, postaxial, type A3, 607324 (2)
chr19 6900000 12600000 19p13.2 184700 PCOS1, PCO1, PCO Polycystic ovary syndrome 1 PCOS1 5120 max lod at D19S884 Polycystic ovary syndrome 1, 184700 (2), Autosomal dominant
chr19 6900000 12600000 19p13.2 603386 TCO Thyroid carcinoma, nonmedullary, with cell oxyphilia 50975 Thyroid carcinoma, nonmedullary, with cell oxyphilia, 603386 (2)
chr19 6952499 6990845 19p13.3 19p13.2 612305 ADGRE4P, EMR4, GPR127, EMR4P, FIRE Adhesion G protein-coupled receptor E4, pseudogene ADGRE4P 326342
chr19 7049339 7051734 19p13.2 19p13.2 607964 MBD3L2 Methyl-CpG binding domain protein 3-like 2 MBD3L2 125997 ENSG00000230522 Mbd3l2 (MGI:2158460)
chr19 7112254 7294404 19p13.2 19p13.2 147670 INSR, HHF5 Insulin receptor INSR 3643 ENSG00000171105 1 gene for alpha and beta subunits Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3); Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3), Autosomal dominant; Leprechaunism, 246200 (3), Autosomal recessive; Rabson-Mendenhall syndrome, 262190 (3), Autosomal recessive Insr (MGI:96575)
chr19 7348900 7476989 19p13.2 19p13.2 616432 ARHGEF18, KIAA0521, RP78 Rho guanine nucleotide exchange factor 18 ARHGEF18 23370 ENSG00000268861 Retinitis pigmentosa 78, 617433 (3), Autosomal recessive Arhgef18 (MGI:2142567)
chr19 7476869 7494976 19p13.3 19p13.2 607583 PEX11G Peroxisome biogenesis factor 11G PEX11G 92960 ENSG00000104883 Pex11g (MGI:1920905)
chr19 7522609 7534008 19p13.3-p13.2 19p13.2 605248 MCOLN1, ML4 Mucolipin 1 MCOLN1 57192 ENSG00000090674 Mucolipidosis IV, 252650 (3), Autosomal recessive Mcoln1 (MGI:1890498)
chr19 7534151 7561766 19p13.3 19p13.2 603197 PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS Patatin-like phospholipase domain-containing protein 6 PNPLA6 10908 ENSG00000032444 mutation identified in 1 LMNS family Boucher-Neuhauser syndrome, 215470 (3), Autosomal recessive; ?Laurence-Moon syndrome, 245800 (3), Autosomal recessive; Oliver-McFarlane syndrome, 275400 (3), Autosomal recessive; Spastic paraplegia 39, autosomal recessive, 612020 (3), Autosomal recessive Pnpla6 (MGI:1354723)
chr19 7595901 7618309 19p13.2 19p13.2 612685 CAMSAP3, NEZHA, KIAA1543 Calmodulin-regulated spectrin-associated protein 3 CAMSAP3 57662 ENSG00000076826 Camsap3 (MGI:1916947)
chr19 7619524 7629552 19p13.2 19p13.2 610850 XAB2 XPA-binding protein 2 XAB2 56949 ENSG00000076924 Xab2 (MGI:1914689)
chr19 7629784 7631623 19p13.2 19p13.2 614770 PET100, C19orf79 PET100, S. cerevisiae, homolog of PET100 100131801 ENSG00000229833 Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial Pet100 (MGI:3615306)
chr19 7637100 7647873 19p13.3-p13.2 19p13.2 601717 STXBP2, UNC18B, FHL5 Syntaxin binding protein 2 STXBP2 6813 ENSG00000076944 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) Stxbp2 (MGI:107370)
chr19 7669085 7670453 19p13.2 19p13.2 605565 RETN, RSTN, FIZZ3 Resistin RETN 56729 ENSG00000104918 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant; {Hypertension, insulin resistance-related, susceptibility to}, 125853 (3), Autosomal dominant Retn (MGI:1888506)
chr19 7677056 7679832 19p13.3 19p13.2 609565 MCEMP1 Mast cell-expressed membrane protein 1 MCEMP1 199675 ENSG00000183019 Mcemp1 (MGI:1916439)
chr19 7688756 7702754 19p13.3 19p13.2 151445 FCER2, FCE2, CD23, CLEC4J Fc fragment of IgE, low affinity II, receptor for (CD23A) FCER2 2208 ENSG00000104921 Fcer2a (MGI:95497)
chr19 7728956 7732180 19p13.3 19p13.2 616256 CLEC4G, LSECTIN C-type lectin domain family 4, member G CLEC4G 339390 ENSG00000182566 Clec4g (MGI:1923113)
chr19 7739992 7747608 19p13.3 19p13.2 604672 CD209, CDSIGN CD209 antigen CD209 30835 ENSG00000090659 {Dengue fever, protection against}, 614371 (3); {HIV type 1, susceptibility to}, 609423 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) Cd209e (MGI:2157948)
chr19 7763051 7770558 19p13.3 19p13.2 605872 CLEC4M, CD209L, LSIGN, DCSIGNR C-type lectin domain family 4, member M CLEC4M 10332 ENSG00000104938 SARS infection, protection against, 605872 (2) Cd209a (MGI:2157942)
chr19 7888504 7902022 19p13.2 19p13.2 612891 LRRC8E Leucine-rich repeat-containing protein 8E LRRC8E 80131 ENSG00000171017 Lrrc8e (MGI:1919517)
chr19 7903779 7914482 19p13.2 19p13.2 603014 MAP2K7, PRKMK7, MKK7, JNKK2, MAPKK7 Mitogen-activated protein kinase kinase 7 MAP2K7 5609 ENSG00000076984 Map2k7 (MGI:1346871)
chr19 7920308 7923250 19p13.2 19p13.2 605076 SNAPC2, SNAP45 Small nuclear RNA-activating protein complex, polypeptide 2 SNAPC2 6618 ENSG00000104976 Snapc2 (MGI:1914861)
chr19 7924495 7926165 19p13.2 19p13.2 600135 CTXN1, CTXN Cortexin 1 CTXN1 404217 ENSG00000178531 Ctxn1 (MGI:88566)
chr19 7926717 7943822 19p13.3-p13.2 19p13.2 605058 TIMM44 Translocase of inner mitochondrial membrane 44, yeast, homolog of TIMM44 10469 ENSG00000104980 Timm44 (MGI:1343262)
chr19 7958572 8005644 19p13.2 19p13.2 603466 ELAVL1, HUR Embryonic lethal, abnormal vision, Drosophila, homolog-like 1 ELAVL1 1994 ENSG00000066044 Elavl1 (MGI:1100851)
chr19 8052317 8062662 19p13.2 19p13.2 602565 CCL25, SCYA25, TECK Chemokine, C-C motif, ligand 25 CCL25 6370 ENSG00000131142 Ccl25 (MGI:1099448)
chr19 8209328 8262432 19p13.2 19p13.2 615334 CERS4, LASS4, TRH1 Ceramide synthase 4 CERS4 79603 ENSG00000090661 Cers4 (MGI:1914510)
chr19 8302126 8308355 19p13.2 19p13.2 606475 CD320, 8D6, 8D6A, TCBLR CD320 molecule CD320 51293 ENSG00000167775 Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3) Cd320 (MGI:1860083)
chr19 8308602 8321412 19p13.2 19p13.2 602139 NDUFA7 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a) NDUFA7 4701 ENSG00000267855 previously assigned to 20p13 Ndufa7 (MGI:1913666)
chr19 8321499 8322395 19p13.2 19p13.2 603685 RPS28, DBA15 Ribosomal protein S28 RPS28 6234 ENSG00000233927 Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 (3), Autosomal dominant Rps28 (MGI:1859516)
chr19 8322583 8343261 19p13.2 19p13.2 614611 KANK3 KN motif- and ankyrin repeat domain-containing protein 3 KANK3 256949 ENSG00000186994 Kank3 (MGI:1098615)
chr19 8364126 8374374 19p13.3 19p13.2 605910 ANGPTL4, PGAR, HFARP, FIAF, TGQTL Angiopoietin-like 4 ANGPTL4 51129 ENSG00000167772 Plasma triglyceride level QTL, low, 615881 (3), Autosomal dominant Angptl4 (MGI:1888999)
chr19 8390320 8404433 19p13.2 19p13.2 604198 RAB11B, NDAGSCW Ras-associated protein RAB11B RAB11B 9230 ENSG00000185236 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3) Rab11b (MGI:99425)
chr19 8413271 8439020 19p13.2 19p13.2 613332 MARCH2 Membrane-associated RING-CH finger protein 2 MARCH2 51257 ENSG00000099785 March2 (MGI:1925915)
chr19 8444574 8489117 19p13.3-p13.2 19p13.2 160994 HNRPM, HNRPM4, NAGR1 Heterogeneous nuclear ribonucleoprotein M HNRNPM 4670 ENSG00000099783 Hnrnpm (MGI:1926465)
chr19 8520789 8577446 19p13.3-p13.2 19p13.2 601480 MYO1F Myosin IF MYO1F 4542 ENSG00000142347 Myo1f (MGI:107711)
chr19 8580239 8610734 19p13.3-p13.2 19p13.2 608990 ADAMTS10, WMS1 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 10 ADAMTS10 81794 ENSG00000142303 Weill-Marchesani syndrome 1, recessive, 277600 (3), Autosomal recessive Adamts10 (MGI:2449112)
chr19 8842592 8843339 19p13.2 19p13.2 607963 MBD3L1 Methyl-CpG binding domain protein 3-like 1 MBD3L1 85509 ENSG00000170948 Mbd3l1 (MGI:1920753)
chr19 8848839 9010389 19p13.2 19p13.2 606154 MUC16, CA125 Mucin 16 MUC16 94025 ENSG00000181143
chr19 9140379 9163418 19p13 19p13.2 613864 ZNF317, KIAA1588 Zinc finger protein 317 ZNF317 57693 ENSG00000130803 Zfp317 (MGI:107775)
chr19 9213849 9214870 19p13.2 19p13.2 611538 OR7D4, OR19B Olfactory receptor, family 7, subfamily D, member 4 OR7D4 125958 ENSG00000174667 Olfr39 (MGI:1313142)
chr19 9291139 9309713 19p13.2 19p13.2 609571 ZNF699, FLJ38144 Zinc finger protein 699 ZNF699 374879 ENSG00000196110
chr19 9363019 9382616 19p13 19p13.2 601276 ZNF177 Zinc finger protein 177 ZNF177 7730 ENSG00000188629
chr19 9412425 9435577 19p13.2 19p13.2 604751 ZNF266, HZF1 Zinc finger protein-266 ZNF266 10781 ENSG00000174652 Zfp266 (MGI:1924769)
chr19 9565656 9584543 19p 19p13.2 194628 ZNF121, D19S204 Zinc finger protein-121 (clone ZHC32) ZNF121 7675 ENSG00000197961
chr19 9810266 9820527 19p13.2 19p13.2 609079 FBXL12, FBL12 F-box and leucine-rich repeat protein 12 FBXL12 54850 ENSG00000127452 Fbxl12 (MGI:1354738)
chr19 9827879 9830120 19p13.2 19p13.2 606849 UBL5, HUB1 Ubiquitin-like 5 UBL5 59286 ENSG00000198258 pseudogene on 17p11.2 Ubl5 (MGI:1913427)
chr19 9835206 9849688 19p13 19p13.2 601052 PIN1, DOD Peptidyl-prolyl cis/trans isomerase, NIMA-interacting PIN1 5300 ENSG00000127445 Pin1 (MGI:1346036)
chr19 9853717 9936551 19p13.2 19p13.2 617492 OLFM2, NOE2 Olfactomedin 2 OLFM2 93145 ENSG00000105088 Olfm2 (MGI:3045350)
chr19 9959560 10010531 19p13.2 19p13.2 120216 COL5A3 Collagen, type V, alpha-3 polypeptide COL5A3 50509 ENSG00000080573 Col5a3 (MGI:1858212)
chr19 10013248 10022277 19p13 19p13.2 608575 RDH8, PRRDH Retinol dehydrogenase 8 RDH8 50700 ENSG00000080511 Rdh8 (MGI:2685028)
chr19 10086118 10093251 19p13.2 19p13.2 616808 C19orf66, RYDEN Chromosome 19 open reading frame 66 C19orf66 55337 ENSG00000130813 A230050P20Rik (MGI:2441788)
chr19 10092336 10106406 19p13.2 19p13.2 609336 ANGPTL6, AGF Angiopoietin-like 6 ANGPTL6 83854 ENSG00000130812 Angptl6 (MGI:1917976)
chr19 10106222 10112002 19p13 19p13.2 607793 PPAN, SSF1 Peter pan, Drosophila, homolog of PPAN 56342 ENSG00000130810 fuses with P2RY11 Ppan (MGI:2178445)
chr19 10111520 10115388 19p13 19p13.2 602697 P2RY11 Purinergic receptor P2Y, G protein-coupled, 11 P2RY11 5032 ENSG00000244165 fuses with PPAN
chr19 10115013 10119923 19p13.2 19p13.2 603913 EIF3G, EIF3S4 Eukaryotic translation initiation factor 3, subunit G EIF3G 8666 ENSG00000130811 Eif3g (MGI:1858258)
chr19 10133343 10195134 19p13.3-p13.2 19p13.2 126375 DNMT1, MCMT, HSN1E, ADCADN DNA methyltransferase 1 DNMT1 1786 ENSG00000130816 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3), Autosomal dominant; Neuropathy, hereditary sensory, type IE, 614116 (3), Autosomal dominant Dnmt1 (MGI:94912)
chr19 10221432 10231271 19p13.2 19p13.2 605111 S1PR2, EDG5, DFNB68 Sphingosine-1-phosphate receptor 2 S1PR2 9294 ENSG00000267534 Deafness, autosomal recessive 68, 610419 (3), Autosomal recessive S1pr2 (MGI:99569)
chr19 10251961 10260059 19p13.2 19p13.2 611823 MRPL4 Mitochondrial ribosomal protein L4 MRPL4 51073 ENSG00000105364 Mrpl4 (MGI:2137210)
chr19 10270840 10286614 19p13.3-p13.2 19p13.2 147840 ICAM1 Intercellular adhesion molecule-1 ICAM1 3383 ENSG00000090339 close to Ldlr in mouse {Malaria, cerebral, susceptibility to}, 611162 (3) Icam1 (MGI:96392)
chr19 10286966 10288583 19p13.3 19p13.2 614088 ICAM4, CD242, LW Intracellular adhesion molecule 4 ICAM4 3386 ENSG00000105371 close to C3, LU [Blood group, Landsteiner-Wiener], 111250 (3) Icam4 (MGI:1925619)
chr19 10289350 10296777 19p13.2 19p13.2 601852 ICAM5, TLCN, TLN Intercellular adhesion molecule 5 (telencephalin) ICAM5 7087 ENSG00000105376 Icam5 (MGI:109430)
chr19 10304802 10309556 19p13.2 19p13.2 611639 ZGLP1, GLP1 Zinc finger GATA-like protein 1 ZGLP1 100125288 ENSG00000220201 Zglp1 (MGI:3696042)
chr19 10310210 10316014 19p13.2 19p13.2 614585 FDX1L, FDX2 Ferredoxin 1-like protein FDX2 112812 ENSG00000267673 Fdx1l (MGI:1915415)
chr19 10316211 10333637 19p13.2 19p13.2 609950 RAVER1, KIAA1978 Raver1, mouse, homolog of RAVER1 125950 ENSG00000161847 Raver1 (MGI:1919016)
chr19 10333775 10339833 19p13.3-p13.2 19p13.2 146631 ICAM3, CDW50 Intercellular adhesion molecule-3 ICAM3 3385 ENSG00000076662
chr19 10350527 10380571 19p13.2 19p13.2 176941 TYK2, IMD35 Tyrosine kinase 2 TYK2 7297 ENSG00000105397 Immunodeficiency 35, 611521 (3), Autosomal recessive Tyk2 (MGI:1929470)
chr19 10391127 10403594 19p13.2 19p13.2 605065 CDC37 Cell division cycle 37, S. cerevisiae, homolog of CDC37 11140 ENSG00000105401 Cdc37 (MGI:109531)
chr19 10416772 10469630 19p13.2 19p13.2 600126 PDE4A, DPDE2 Phosphodiesterase-4A, cAMP-specific (dunce, Drosophila, homolog phosphodiesterase E2) PDE4A 5141 ENSG00000065989 Pde4a (MGI:99558)
chr19 10486119 10503377 19p13.2 19p13.2 606016 KEAP1, KIAA0132 Kelch-like ECH-associated protein 1 KEAP1 9817 ENSG00000079999 Keap1 (MGI:1858732)
chr19 10512741 10517991 19p13.2 19p13.2 605146 S1PR5, EDG8 Sphingosine-1-phosphate receptor 5 S1PR5 53637 ENSG00000180739 S1pr5 (MGI:2150641)
chr19 10543893 10553422 19p13.2 19p13.2 611340 ATG4D, APG4D, AUTL4 Autophagy 4, S. cerevisiae, homolog of, D ATG4D 84971 ENSG00000130734 Atg4d (MGI:2444308)
chr19 10566461 10568978 19p13 19p13.2 600927 CDKN2D Cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) CDKN2D 1032 ENSG00000129355 possible tumor suppressor Cdkn2d (MGI:105387)
chr19 10572670 10587314 19p13.2 19p13.2 607309 AP1M2, MU1B Adaptor-related protein complex 1, mu-2 subunit AP1M2 10053 ENSG00000129354 Ap1m2 (MGI:1336974)
chr19 10602444 10644558 19p13.1 19p13.2 606106 SLC44A2, CTL2 Solute carrier family 44, member 2 SLC44A2 57153 ENSG00000129353 Slc44a2 (MGI:1915932)
chr19 10654260 10692418 19p13 19p13.2 603182 ILF3, NF90, DRBP76, MPHOSPH4, NFAR Interleukin enhancer-binding factor 3 ILF3 3609 ENSG00000129351 Ilf3 (MGI:1339973)
chr19 10701435 10713366 19p13.2 19p13.2 609615 QTRT1, TGT Queuine tRNA-ribosyltransferase 1 QTRT1 81890 ENSG00000213339 Qtrt1 (MGI:1931441)
chr19 10718052 10831909 19p13.2 19p13.2 602378 DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5 Dynamin-2 DNM2 1785 ENSG00000079805 1 LCCS5 family identified with mutation Centronuclear myopathy 1, 160150 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3), Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3), Autosomal dominant; Lethal congenital contracture syndrome 5, 615368 (3), Autosomal recessive Dnm2 (MGI:109547)
chr19 10817425 10817495 19p13.2 19p13.2 610719 MIR199A1, MIRN199A1 Micro RNA 199A1 MIR199A1 406976
chr19 10832066 10836306 19p13.2 19p13.2 605395 TMED1, IL1RL1LG Transmembrane p24 trafficking protein 1 (interleukin-1 receptor-like 1 ligand) TMED1 11018 ENSG00000099203 Tmed1 (MGI:106201)
chr19 10871576 10923077 19p13.2 19p13.2 603934 CARM1, PRMT4 Coactivator-associated arginine methyltransferase 1 CARM1 10498 ENSG00000142453 Carm1 (MGI:1913208)
chr19 10922184 10929011 19p13.2 19p13.2 617522 YIPF2 YIP1 domain family, member 2 YIPF2 78992 ENSG00000130733 Yipf2 (MGI:1922016)
chr19 10928735 10930253 19p13.2 19p13.2 617380 TIMM29, C19orf52 Translocase of inner mitochondrial membrane 29 TIMM29 90580 ENSG00000142444 Timm29 (MGI:1917023)
chr19 10960921 11062281 19p13.2 19p13.2 603254 SMARCA4, BRG1, RTPS2, MRD16, CSS4 SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 SMARCA4 6597 ENSG00000127616 Coffin-Siris syndrome 4, 614609 (3), Autosomal dominant; {Rhabdoid tumor predisposition syndrome 2}, 613325 (3), Autosomal dominant Smarca4 (MGI:88192)
chr19 11089361 11133829 19p13.2 19p13.2 606945 LDLR, FHC, FH, LDLCQ2 Low density lipoprotein receptor LDLR 3949 ENSG00000130164 ~20cM distal to C3 Hypercholesterolemia, familial, 143890 (3), Autosomal dominant; LDL cholesterol level QTL2, 143890 (3), Autosomal dominant Ldlr (MGI:96765)
chr19 11145493 11155996 19p13.2 19p13.2 609394 SPC24, SPBC24 SPC24, NDC80 kinetochore complex component SPC24 147841 ENSG00000161888 Spc24 (MGI:1914879)
chr19 11164266 11197566 19p13.2 19p13.2 614610 KANK2, ANKRD25, KIAA1518, PPKWH, NPHS16 KN motif- and ankyrin repeat domain-containing protein 2 KANK2 25959 ENSG00000197256 Nephrotic syndrome 16, 617783 (3), Autosomal recessive; Palmoplantar keratoderma and woolly hair, 616099 (3), Autosomal recessive Kank2 (MGI:2384568)
chr19 11199292 11262500 19p13.2 19p13.2 614194 DOCK6, KIAA1395, AOS2 Dedicator of cytokinesis 6 DOCK6 57572 ENSG00000130158 Adams-Oliver syndrome 2, 614219 (3), Autosomal recessive Dock6 (MGI:1914789)
chr19 11239618 11241942 19p13.2 19p13.2 616223 ANGPTL8, C19orf80, LIPASIN Angiopoietin-like protein 8 ANGPTL8 55908 ENSG00000130173 within intron of DOCK6 Angptl8 (MGI:3643534)
chr19 11296138 11326995 9q34 19p13.2 617580 TSPAN16, TM4SF16 Tetraspanin 16 TSPAN16 26526 ENSG00000130167
chr19 11322045 11339667 19p13.2 19p13.2 604350 RAD3D, GOV Ras family, member RAB3D RAB3D 9545 ENSG00000105514 Rab3d (MGI:97844)
chr19 11342511 11346458 19p13.2 19p13.2 613771 TMEM205 Transmembrane protein 205 TMEM205 374882 ENSG00000105518 Tmem205 (MGI:3045495)
chr19 11374706 11376950 19p13.2 19p13.2 614536 SWSAP1, ZSWIM7AP1, C19orf39 SWIM-type zinc finger domain-containing protein 7-associated protein 1 SWSAP1 126074 ENSG00000173928 Swsap1 (MGI:1914212)
chr19 11377204 11384341 19p13.3-p13.2 19p13.2 133171 EPOR Erythropoietin receptor EPOR 2057 ENSG00000187266 [Erythrocytosis, familial, 1], 133100 (3), Autosomal dominant Epor (MGI:95408)
chr19 11394055 11419341 19p13.2 19p13.2 616743 RGL3 Ral guanine nucleotide dissociation stimulator-like 3 RGL3 57139 ENSG00000205517 Rgl3 (MGI:1918996)
chr19 11420604 11435781 19p13.2 19p13.2 615956 CCDC151, CILD30 Coiled-coil domain-containing protein 151 CCDC151 115948 ENSG00000198003 Ciliary dyskinesia, primary, 30, 616037 (3), Autosomal recessive Ccdc151 (MGI:1924859)
chr19 11435256 11450967 19p13.2-p13.1 19p13.2 177060 PRKCSH, G19P1, PCLD1 Protein kinase C substrate 80K-H PRKCSH 5589 ENSG00000130175 Polycystic liver disease 1, 174050 (3), Autosomal dominant Prkcsh (MGI:107877)
chr19 11451325 11481045 19p13.2 19p13.2 603458 ELAVL3, HUC, PLE21 Embryonic lethal, abnormal vision, Drosophila, homolog-like 3 ELAVL3 1995 ENSG00000196361 centromeric to ELAVL1 Elavl3 (MGI:109157)
chr19 11483426 11505922 19p13.2 19p13.2 611371 ZNF653, ZIP67 Zinc finger protein 653 ZNF653 115950 ENSG00000161914 Zfp653 (MGI:2442362)
chr19 11505915 11529171 19p13.2 19p13.2 608388 SITPEC, ECSIT Signaling intermediate in toll pathway, evolutionarily conserved ECSIT 51295 ENSG00000130159 Ecsit (MGI:1349469)
chr19 11538716 11550322 19p13.2 19p13.2 600806 CNN1, SMCC Calponin 1 CNN1 1264 ENSG00000130176 Cnn1 (MGI:104979)
chr19 11574659 11579007 19p13.3-p13.1 19p13.2 171640 ACP5, SPENCDI Acid phosphatase 5, tartrate resistant ACP5 54 ENSG00000102575 incorrectly assigned to 15 by A Spondyloenchondrodysplasia with immune dysregulation, 607944 (3), Autosomal recessive
chr19 11575254 11619158 19p13.2 19p13.2 612248 ZNF627 Zinc finger protein 627 ZNF627 199692 ENSG00000198551 Zfp867 (MGI:2681848)
chr19 11887772 11980221 19p13.2 19p13.2 194543 ZNF69 Zinc finger protein-69 (Cos5) ZNF69 7620 ENSG00000198429 previously assigned to 22q11.2
chr19 12131349 12140406 19p13.3-p13.2 19p13.2 194557 ZNF20, KOX13 Zinc finger protein-14 (KOX 6) ZNF20 7568 ENSG00000132010
chr19 12163046 12189880 19p13.2-p13.12 19p13.2 604078 ZNF136 Zinc finger protein-136 ZNF136 7695 ENSG00000196646
chr19 12224685 12294898 19p13.2 19p13.2 194542 ZNF44, KOX7 Zinc finger protein-44 (KOX7) ZNF44 51710 ENSG00000197857 previously assigned to 16p11
chr19 12429705 12441111 19p13.2 19p13.2 606697 ZK1 Zinc finger protein ZK1 ZNF443 10224 ENSG00000180855 Zfp709 (MGI:2384299)
chr19 12600000 13800000 19p13.13 613638 DEL19p13.13, C19DELp13.13, DUP19p13.13, C19DUPp13.13 Chromosome 19p13.13 deletion syndrome (Chromosome 19p13.13 duplication syndrome) contiguous gene syndrome Chromosome 19p13.13 deletion syndrome, 613638 (4); Chromosome 19p13.13 duplication syndrome, 613638 (4)
chr19 12600000 24200000 19p13.1-p12 603985 ZNF103 Zinc finger protein-103
chr19 12600000 24200000 19p13.1-p12 603987 ZNF105 Zinc finger protein-105
chr19 12600000 24200000 19p13.1-p12 603988 ZNF106 Zinc finger protein-106
chr19 12600000 24200000 19p13.1-p12 603991 ZNF109 Zinc finger protein-109
chr19 12600000 24200000 19p13.1-p12 603992 ZNF110 Zinc finger protein-110
chr19 12600000 24200000 19p13.1-p12 603993 ZNF111 Zinc finger protein-111
chr19 12600000 24200000 19p13.1-p12 603995 ZNF113 Zinc finger protein-113 ?13q21
chr19 12600000 24200000 19p13.1-p12 603997 ZNF118 Zinc finger protein-118 ?13q21
chr19 12600000 24200000 19p13.1-p12 603998 ZNF119 Zinc finger protein-119
chr19 12600000 24200000 19p13.1-p12 603999 ZNF120 Zinc finger protein-120
chr19 12600000 24200000 19p13.1-p12 604000 ZNF122 Zinc finger protein-122
chr19 12600000 24200000 19p13.1-p12 603976 ZNF94 Zinc finger protein-94
chr19 12646507 12666776 19cen-q12 19p13.13 609458 MAN2B1, MANB Mannosidase, alpha, class 2B, member 1 MAN2B1 4125 ENSG00000104774 Mannosidosis, alpha-, types I and II, 248500 (3), Autosomal recessive Man2b1 (MGI:107286)
chr19 12666803 12675831 19p13.13 19p13.13 616850 WDR83, MORG1 WD repeat-containing protein 83 WDR83 84292 ENSG00000123154 Wdr83 (MGI:1915086)
chr19 12671954 12681886 19p13.12-p13.11 19p13.13 600944 DHPS Deoxyhypusine synthase DHPS 1725 ENSG00000095059 Dhps (MGI:2683592)
chr19 12688915 12696899 19p13.2 19p13.13 609074 FBXW9, FBW9 F-box and WD40 domain protein 9 FBXW9 84261 ENSG00000132004 Fbxw9 (MGI:1915878)
chr19 12699193 12723995 19p13.13 19p13.13 603002 TNPO2, TRN2, KPNB2B Transportin 2 TNPO2 30000 ENSG00000105576 Tnpo2 (MGI:2384849)
chr19 12737458 12748323 19q13.3 19p13.13 601913 ASNA1, ARSA1 arsA arsenite transporter, ATP-binding, E. coli, homolog of, 1 ASNA1 439 ENSG00000198356 Asna1 (MGI:1928379)
chr19 12751690 12758457 19p13.2-p13.12 19p13.13 607335 BEST2, VMD2L1 Bestrophin 2 BEST2 54831 ENSG00000039987 Best2 (MGI:2387588)
chr19 12763001 12778483 19p13.13 19p13.13 607824 HOOK2, HK2 Hook, Drosophila, homolog of, 2 HOOK2 29911 ENSG00000095066 Hook2 (MGI:2181664)
chr19 12791495 12793310 19p13.2 19p13.13 165161 JUNB jun B proto-oncogene JUNB 3726 ENSG00000171223 Junb (MGI:96647)
chr19 12796819 12801909 19p13.2 19p13.13 600538 PRDX2, PRX2, TDPX1, PTX1, NKEFB Peroxiredoxin 2 PRDX2 7001 ENSG00000167815 prev. mapped to chr.13 Prdx2 (MGI:109486)
chr19 12802053 12813647 19p13.13 19p13.13 606034 RNASEH2A, RNHIA, AGS4 Ribonuclease H2, large subunit RNASEH2A 10535 ENSG00000104889 Aicardi-Goutieres syndrome 4, 610333 (3), Autosomal recessive Rnaseh2a (MGI:1916974)
chr19 12825476 12835427 19p13 19p13.13 609553 RTBDN Retbindin RTBDN 83546 ENSG00000132026 Rtbdn (MGI:2443686)
chr19 12833930 12874952 19p13.2 19p13.13 612256 MAST1, SAST, KIAA0973 Microtubule-associated serine/threonine kinase 1 MAST1 22983 ENSG00000105613 Mast1 (MGI:1861901)
chr19 12875210 12881520 19p13.2-q13.4 19p13.13 126350 DNASE2, DNL Deoxyribonuclease II, lysosomal DNASE2 1777 ENSG00000105612 Dnase2a (MGI:1329019)
chr19 12884421 12887202 19p13.13-p13.12 19p13.13 600599 KLF1, EKLF, INLU, HBFQTL6, CDAN4 Kruppel-like factor 1, erythroid KLF1 10661 ENSG00000105610 Blood group--Lutheran inhibitor, 111150 (3); Dyserythropoietic anemia, congenital, type IV, 613673 (3), Autosomal dominant; [Hereditary persistence of fetal hemoglobin], 613566 (3) Klf1 (MGI:1342771)
chr19 12891128 12915344 19p13.2 19p13.13 608801 GCDH Glutaryl-Coenzyme A dehydrogenase GCDH 2639 ENSG00000105607 Glutaricaciduria, type I, 231670 (3), Autosomal recessive Gcdh (MGI:104541)
chr19 12898228 12919673 19p13.13 19p13.13 611487 SYCE2, CESC1 Synaptonemal complex central element protein 2 SYCE2 256126 ENSG00000161860 Syce2 (MGI:1919096)
chr19 12938599 12944489 19p13.2 19p13.13 109091 CALR, SSA Sicca syndrome antigen A (autoantigen Ro; calreticulin) CALR 811 ENSG00000179218 distal to C3, near LDLR Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3) Calr (MGI:88252)
chr19 12945813 12953642 19p13.2 19p13.13 600061 RAD23A, HHR23A RAD23, S. cerevisiae, homolog of, A RAD23A 5886 ENSG00000179262 Rad23a (MGI:105126)
chr19 12954155 12957253 19p13.13 19p13.13 605162 GADD45GIP1, PRG6, CRIF1 Growth arrest- and DNA damage-inducible DABB45G-interacting protein GADD45GIP1 90480 ENSG00000179271 Gadd45gip1 (MGI:1914947)
chr19 12969617 12974752 19p13.2-p13.13 19p13.13 609068 DAND5, CER2, CERL2, DANTE, COCO DAN domain family, member 5 DAND5 199699 ENSG00000179284 Dand5 (MGI:1344365)
chr19 12995511 13098795 19p13.3 19p13.13 164005 NFIX, NF1A, SOTOS2, MRSHSS Nuclear factor I/X (CCAAT-binding transcription factor) NFIX 4784 ENSG00000008441 Marshall-Smith syndrome, 602535 (3), Autosomal dominant; Sotos syndrome 2, 614753 (3), Autosomal dominant Nfix (MGI:97311)
chr19 13097165 13103750 19p13.2-p13.1 19p13.13 151440 LYL1 Lymphoblastic leukemia derived sequence-1 LYL1 4066 ENSG00000104903 Leukemia, T-cell acute lymphoblastoid, 151440 (2) Lyl1 (MGI:96891)
chr19 13104899 13117566 19p13.3 19p13.13 611669 TRMT1, TRM1 tRNA methyltransferase 1, S. cerevisiae, homolog of TRMT1 55621 ENSG00000104907 Trmt1 (MGI:1289155)
chr19 13116847 13141146 19p13.13 19p13.13 610672 NACC1, BTBD14B, NECFM Nucleus accumbens-associated protein 1, BEN and BTB/POZ domains-containing NACC1 112939 ENSG00000160877 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (3), Autosomal dominant Nacc1 (MGI:1914080)
chr19 13144057 13150373 19p13.2 19p13.13 603765 STX10, SYN10 Syntaxin 10 STX10 8677 ENSG00000104915
chr19 13206441 13506459 19p13 19p13.13 601011 CACNA1A, CACNL1A4, SCA6, EIEE42 Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit CACNA1A 773 ENSG00000141837 Epileptic encephalopathy, early infantile, 42, 617106 (3), Autosomal dominant; Episodic ataxia, type 2, 108500 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, 141500 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3), Autosomal dominant; Spinocerebellar ataxia 6, 183086 (3), Autosomal dominant Cacna1a (MGI:109482)
chr19 13764491 13774281 19p13.2 19p13.13 615105 MRI1, MRDI Methylthioribose-1-phosphate isomerase, S. cerevisiae, homolog of MRI1 84245 ENSG00000037757 Mri1 (MGI:1915123)
chr19 13836286 13836358 19p13.12 19p13.12 610724 MIR24-2, MIRN24-2 Micro RNA 24-2 MIR24-2 407013
chr19 13836439 13836516 19p13.12 19p13.12 612153 MIR27, MIRN27A Micro RNA 27A MIR27A 407018
chr19 13836586 13836658 19p13.13 19p13.12 607962 MIR23A, MIRN23A Micro RNA 23a MIR23A 407010
chr19 13862062 13880756 19p13.13 19p13.12 608229 NANOS3, NOS3 Nanos, Drosophila, homolog of, 3 NANOS3 342977 ENSG00000187556 Nanos3 (MGI:2675387)
chr19 13874698 13874807 19p13.3 19p13.12 612746 MIR181C, MIRN181C Micro RNA 181C MIR181C 406957
chr19 13906142 13930879 19p13.12 19p13.12 610055 CC2D1A, MRT3 Coiled-coil and C2 domain-containing 1A CC2D1A 54862 ENSG00000132024 Mental retardation, autosomal recessive 3, 608443 (3), Autosomal recessive Cc2d1a (MGI:2384831)
chr19 13961529 14007513 19p13.1 19p13.12 600006 RFX1 Regulatory factor (trans-acting) 1 (influences HLA class II expression) RFX1 5989 ENSG00000132005 Rfx1 (MGI:105982)
chr19 14028147 14031557 19p13.3 19p13.12 606855 RLN3, H3, RXN3 Relaxin 3 RLN3 117579 ENSG00000171136 Rln3 (MGI:2158015)
chr19 14031739 14052918 19p13.11 19p13.12 605350 TCCR, WSX1 T-cell cytokine receptor IL27RA 9466 ENSG00000104998 Il27ra (MGI:1355318)
chr19 14091687 14117746 19p13.1 19p13.12 601639 PRKACA Protein kinase, cAMP-dependent, catalytic, alpha PRKACA 5566 ENSG00000072062 Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (3) Prkaca (MGI:97592)
chr19 14119508 14136627 19p13.13 19p13.12 609190 ASF1B Anti-silencing function 1, S. cerevisiae, homolog of, B ASF1B 55723 ENSG00000105011 Asf1b (MGI:1914179)
chr19 14147736 14206244 19p13.3 19p13.12 616416 ADGRL1, LPHN1, CIRL1, CL1, LEC2, KIAA0821 Adhesion G protein-coupled receptor L1 ADGRL1 22859 ENSG00000072071 Adgrl1 (MGI:1929461)
chr19 14381143 14408724 19p13.1 19p13.12 601211 ADGRE5, CD97 Adhesion G protein-coupled receptor E5 ADGRE5 976 ENSG00000123146 Adgre5 (MGI:1347095)
chr19 14433353 14471866 19p12 19p13.12 601032 PKN1, PRKCL1, PRK1, PAK1 Protein kinase N1 PKN1 5585 ENSG00000123143 Pkn1 (MGI:108022)
chr19 14472465 14475361 19p13.1 19p13.12 176802 PTGER1 Prostaglandin E receptor 1, EP1 subtype, 42kD PTGER1 5731 ENSG00000160951 Ptger1 (MGI:97793)
chr19 14477758 14496148 19p13.1 19p13.12 605072 RGS19IP1, C19orf3, GIPC Regulator of G-protein signaling 19 interacting protein 1 GIPC1 10755 ENSG00000123159 Gipc1 (MGI:1926252)
chr19 14514763 14530596 19p13.2 19p13.12 604572 DNAJB1, HSPF1 DnaJ, E. coli, homolog of, subfamily B, member 1 (heat-shock 40kD protein 1) DNAJB1 3337 ENSG00000132002 Dnajb1 (MGI:1931874)
chr19 14527751 14565979 19p13.12 19p13.12 610057 TECR, GPSN2, TER, SC2, MRT14 Trans-2,3-enoyl-CoA reductase TECR 9524 ENSG00000099797 Mental retardation, autosomal recessive 14, 614020 (3), Autosomal recessive Tecr (MGI:1915408)
chr19 14566077 14572076 19p13.12-p13.11 19p13.12 603842 NDUFB7 NADH-ubiquinone oxidoreductase 1 beta subcomplex, 7 NDUFB7 4713 ENSG00000099795 Ndufb7 (MGI:1914166)
chr19 14580776 14612026 19p13.12 19p13.12 616838 CLEC17A C-type lectin domain family 17, member A CLEC17A 388512 ENSG00000187912
chr19 14600174 14674917 19p13.1 19p13.12 606101 EMR3 EGF-like module-containing, mucin-like hormone receptor 3 ADGRE3 84658 ENSG00000131355
chr19 14689786 14733745 19p13.1 19p13.12 611811 ZNF333, KIAA1806 Zinc finger protein 333 ZNF333 84449 ENSG00000160961
chr19 14732696 14778540 19p13.1 19p13.12 606100 ADGRE2, EMR2, VBU Adhesion G protein-coupled receptor E2 ADGRE2 30817 ENSG00000127507 Vibratory urticaria, 125630 (3), Autosomal dominant
chr19 14950032 15010642 19p13.12 19p13.12 600637 SLC1A6, EAAT4 Solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 SLC1A6 6511 ENSG00000105143 Slc1a6 (MGI:1096331)
chr19 15049479 15058292 19p13.1 19p13.12 605848 CASP14, ARCI12 Caspase 14, apoptosis-related cysteine protease CASP14 23581 ENSG00000105141 Ichthyosis, congenital, autosomal recessive 12, 617320 (3), Autosomal recessive Casp14 (MGI:1335092)
chr19 15107363 15114987 19p13.12 19p13.12 617377 SYDE1 Synapse defective Rho GTPase, C. elegans, homolog of, 1 SYDE1 85360 ENSG00000105137 Syde1 (MGI:1918959)
chr19 15114973 15125798 19p13.1 19p13.12 605770 ILVBL, AHAS IlvB-like (acetolactate synthase, bacterial, homolog of) ILVBL 10994 ENSG00000105135 Ilvbl (MGI:1351911)
chr19 15159632 15200980 19p13.2-p13.1 19p13.12 600276 NOTCH3, CADASIL1, CASIL, IMF2, LMNS Notch, Drosophila, homolog of, 3 NOTCH3 4854 ENSG00000074181 mutation identified in 1 IMF2 family Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3), Autosomal dominant; Lateral meningocele syndrome, 130720 (3), Autosomal dominant; ?Myofibromatosis, infantile 2, 615293 (3), Autosomal dominant Notch3 (MGI:99460)
chr19 15226918 15233452 19p13.12 19p13.12 617400 EPHX3, ABHD9 Epoxide hydrolase 3 EPHX3 79852 ENSG00000105131 Ephx3 (MGI:1919182)
chr19 15236835 15332542 19p13.1 19p13.12 608749 BRD4, CAP, HUNK1 Bromodomain-containing protein 4 BRD4 23476 ENSG00000141867 fused with NUT
chr19 15353520 15379814 19p13.12 19p13.12 604692 AKAP8, AKAP95 A-kinase anchor protein 8 AKAP8 10270 ENSG00000105127 Akap8 (MGI:1928488)
chr19 15380047 15419120 19p13.12-p13.11 19p13.12 609475 AKAP8L, HA95, NAKAP, HAP95 A-kinase anchor protein 8-like protein AKAP8L 26993 ENSG00000011243 Akap8l (MGI:1860606)
chr19 15451623 15464580 19p13.12 19p13.12 616561 RASAL3 Ras protein activator-like 3 RASAL3 64926 ENSG00000105122 Rasal3 (MGI:2444128)
chr19 15468644 15479503 19p13.12 19p13.12 608199 PGRPL Peptidoglycan recognition protein, long PGLYRP2 114770 ENSG00000161031 Pglyrp2 (MGI:1928099)
chr19 15508486 15552316 19p13.12 19p13.12 611495 CYP4F22, ARCI5, LI3 Cytochrome P450, family 4, subfamily F, polypeptide 22 CYP4F22 126410 ENSG00000171954 Ichthyosis, congenital, autosomal recessive 5, 604777 (3), Autosomal recessive Cyp4f39 (MGI:2445210)
chr19 15615206 15629637 19p13.1 19p13.12 611545 CYP4F8 Cytochrome P450, family 4, subfamily F, polypeptide 8 CYP4F8 11283 ENSG00000186526 Cyp4f15 (MGI:2146921)
chr19 15640896 15661605 19p13.2 19p13.12 601270 CYP4F3, LTB4H Cytochrome P450, subfamily IVF, polypeptide 3 CYP4F3 4051 ENSG00000186529 Cyp4f13 (MGI:2158641)
chr19 15673017 15698818 19p13.1 19p13.12 611485 CYP4F12 Cytochrome P450, family 4, subfamily F, polypeptide 12 CYP4F12 66002 ENSG00000186204 Cyp4f14 (MGI:1927669)
chr19 15828946 15836320 19p13.12 19p13.12 617500 UCA1, LINC00178, CUDR Urothelial cancer-associated gene 1 UCA1 652995
chr19 15878023 15898119 19p13.12 19p13.12 604426 CYP4F2 Cytochrome P450, family 4, subfamily F, polypeptide 2 CYP4F2 8529 ENSG00000186115 Cyp4f18 (MGI:1919304)
chr19 15912369 15934865 19p13.1 19p13.12 611517 CYP4F11 Cytochrome P450, family 4, subfamily F, polypeptide 11 CYP4F11 57834 ENSG00000171903 Cyp4f40 (MGI:3645508)
chr19 16067506 16103004 19p13.1 19p13.12-p13.11 600317 TPM4 Tropomyosin 4 TPM4 7171 ENSG00000167460
chr19 16111679 16133634 19p13.2-cen 19p13.11 165040 RAB8A, MEL Ras-associated protein RAB8A (oncogene MEL) RAB8A 4218 ENSG00000167461 Rab8a (MGI:96960)
chr19 16185183 16192045 19p13.12 19p13.11 614554 FAM32A, OTAG12 Family with sequence similarity 32, member A FAM32A 26017 ENSG00000105058 Fam32a (MGI:1915172)
chr19 16197853 16235344 19p13.12 19p13.11 603535 AP1M1, AP47, CLAPM2 Adaptor-related protein complex 1, mu 1 subunit AP1M1 8907 ENSG00000072958 Ap1m1 (MGI:102776)
chr19 16324825 16328661 19p13.1 19p13.11 602016 KLF2, LKLF Kruppel-like factor 2 KLF2 10365 ENSG00000127528 Klf2 (MGI:1342772)
chr19 16355243 16472011 19p13.11 19p13.11 616826 EPS15L1, EPS15R EPS15-like protein 1 EPS15L1 58513 ENSG00000127527 Eps15l1 (MGI:104582)
chr19 16479056 16496191 19p13.12 19p13.11 611414 CALR3, CRT2, CMH19 Calreticulin 3 CALR3 125972 ENSG00000269058 mutation identified in 1 CMH19 patient ?Cardiomyopathy, hypertrophic, 19, 613875 (3), Autosomal dominant Calr3 (MGI:1920566)
chr19 16574906 16628203 19p13.11 19p13.11 605043 MED26, CRSP7, CRSP70 Mediator complex subunit 26 MED26 9441 ENSG00000105085 Med26 (MGI:1917875)
chr19 16661126 16689019 19p13.11 19p13.11 611235 TMEM38A, TRICA Transmembrane protein 38A TMEM38A 79041 ENSG00000072954 Tmem38a (MGI:1921416)
chr19 16719525 16817962 19p13.11 19p13.11 616250 NWD1 NACHT domain- and WD repeat-containing protein 1 NWD1 284434 ENSG00000188039 Nwd1 (MGI:2442268)
chr19 16829386 16880354 19p13.11 19p13.11 607777 SIN3B, KIAA0700 Sin3, yeast, homolog of, B SIN3B 23309 ENSG00000127511 Sin3b (MGI:107158)
chr19 16888859 16892599 19p12 19p13.11 602779 F2RL3, PAR4 Coagulation factor II, thrombin, receptor-like 3 (protease-activated receptor-4) F2RL3 9002 ENSG00000127533 F2rl3 (MGI:1298207)
chr19 16892946 17026817 19p13.11 19p13.11 608841 CPAMD8, KIAA1283, ASGD8 Complement component 3- and pregnancy zone protein-like alpha-2-macroglobin domain-containing protein 8 CPAMD8 27151 ENSG00000160111 Anterior segment dysgenesis 8, 617319 (3), Autosomal recessive
chr19 17049760 17075605 19p13.11 19p13.11 613434 HAUS8, DGT4, HICE1 HAUS augmin-like complex, subunit 8 HAUS8 93323 ENSG00000131351 Haus8 (MGI:1923728)
chr19 17075780 17213294 19p13.1 19p13.11 602129 MYO9B, MYR5, CELIAC4 Myosin IXB MYO9B 4650 ENSG00000099331 {Celiac disease, susceptibility to, 4}, 609753 (3) Myo9b (MGI:106624)
chr19 17231884 17245341 19p13.1 19p13.11 132880 NR2F6, ERBAL2, EAR2 Nuclear receptor subfamily 2, group F, member 6 NR2F6 2063 ENSG00000160113 Nr2f6 (MGI:1352453)
chr19 17250020 17264795 19p13.1 19p13.11 611810 USHBP1, MCC2 USH1C-binding protein 1 USHBP1 83878 ENSG00000130307 Ushbp1 (MGI:1922920)
chr19 17267375 17279352 19p13.11 19p13.11 612766 C10orf62, MERIT40, NBA1 Chromosome 19 open reading frame 62 BABAM1 29086 ENSG00000105393 Babam1 (MGI:1915501)
chr19 17302806 17306842 19p13.1 19p13.11 611840 MRPL34 Mitochondrial ribosomal protein L34 MRPL34 64981 ENSG00000130312 Mrpl34 (MGI:2137227)
chr19 17323222 17334833 19p13.11 19p13.11 610216 TMEM16H, KIAA1623 Transmembrane protein 16H ANO8 57719 ENSG00000074855 Ano8 (MGI:2687327)
chr19 17334981 17342730 19p13.11 19p13.11 608536 GTPBP3, MSS1, COXPD23 GTP-binding protein 3 GTPBP3 84705 ENSG00000130299 Combined oxidative phosphorylation deficiency 23, 616198 (3), Autosomal recessive Gtpbp3 (MGI:1917609)
chr19 17351447 17377348 19p13.2 19p13.11 607647 PLVAP, PV1 Plasmalemma vesicle-associated protein PLVAP 83483 ENSG00000130300 Plvap (MGI:1890497)
chr19 17402938 17405647 19p13.2 19p13.11 600534 BST2 Bone marrow stromal cell antigen BST2 684 ENSG00000130303
chr19 17455424 17460915 19p13.11 19p13.11 608791 NXNL1, RDCVF, TXNL6, LOC115861 Nucleoredoxin-like protein 1 NXNL1 115861 ENSG00000171773 Nxnl1 (MGI:1924446)
chr19 17468744 17506168 19p13.1 19p13.11 600691 SLC27A1, FATP, FATP1 Solute carrier family 27, member 1 SLC27A1 376497 ENSG00000130304 Slc27a1 (MGI:1347098)
chr19 17511622 17521290 19p13.2 19p13.11 604951 PGLS 6-phosphogluconolactonase PGLS 25796 ENSG00000130313 Pgls (MGI:1913421)
chr19 17523300 17556754 19p13.11 19p13.11 609967 BCNP1 B-cell novel protein 1 FAM129C 199786 ENSG00000167483 Fam129c (MGI:3686743)
chr19 17555593 17583161 19p13.11 19p13.11 617531 COLGALT1, GLT25D1 Collagen beta(1-0)galactosyltransferase 1 COLGALT1 79709 ENSG00000130309 Colgalt1 (MGI:1924348)
chr19 17601327 17688343 19p13.3 19p13.11 609894 UNC13A, KIAA1032 UNC13, C. elegans, homolog of, A UNC13A 23025 ENSG00000130477 Unc13a (MGI:3051532)
chr19 17719451 17734514 19p13.11 19p13.11 607573 MAP1S, BPY2IP1, VCY2IP1, C19orf5 Microtubule-associated protein 1S MAP1S 55201 ENSG00000130479 Map1s (MGI:2443304)
chr19 17747717 17788567 19p13.11 19p13.11 613437 FCHO1 FCH domain-only protein 1 FCHO1 23149 ENSG00000130475 Fcho1 (MGI:1921265)
chr19 17794827 17813575 19p 19p13.11 605863 TMEM3, B3GNT3 Transmembrane protein 3 (beta-1,3-N-acetylglucosaminyltransferase 3) B3GNT3 10331 ENSG00000179913 B3gnt3 (MGI:2152535)
chr19 17816512 17821573 19p13.2 19p13.11 146738 INSL3 Insulin-like 3, Leydig cell INSL3 3640 ENSG00000248099 Cryptorchidism, 219050 (3), Autosomal dominant Insl3 (MGI:108427)
chr19 17824781 17848070 19p13.1 19p13.11 600173 JAK3, JAKL Janus kinase 3 (Janus kinase, leukocyte) JAK3 3718 ENSG00000105639 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3), Autosomal recessive Jak3 (MGI:99928)
chr19 17859877 17863323 19p 19p13.11 604178 RPL18A Ribosomal protein L18a RPL18A 6142 ENSG00000105640 Rpl18a (MGI:1924058)
chr19 17871393 17895174 19p13.2-p12 19p13.11 601843 SLC5A5, NIS, TDH1 Solute carrier family 5 (sodium iodide symporter), member-5 SLC5A5 6528 ENSG00000105641 Thyroid dyshormonogenesis 1, 274400 (3), Autosomal recessive Slc5a5 (MGI:2149330)
chr19 18058993 18099026 19p13.1 19p13.11 601604 IL12RB1, IMD30 Interleukin-12 receptor, beta-1 IL12RB1 3594 ENSG00000096996 Immunodeficiency 30, 614891 (3), Autosomal recessive Il12rb1 (MGI:104579)
chr19 18097763 18151691 19p13.11 19p13.11 612258 MAST3, KIAA0561 Microtubule-associated serine/threonine kinase 3 MAST3 23031 ENSG00000099308 Mast3 (MGI:2683541)
chr19 18153177 18170532 19q13.2-q13.4 19p13.11 603157 PIK3R2, MPPH1 Phosphatidylinositol 3-kinase, regulatory subunit 2 PIK3R2 5296 ENSG00000105647 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3), Autosomal dominant Pik3r2 (MGI:1098772)
chr19 18173779 18178123 19p13.11 19p13.11 604664 IFI30, GILT Interferon-gamma-inducible protein 30 IFI30 10437 ENSG00000216490 Ifi30 (MGI:2137648)
chr19 18193229 18196741 19p13.11 19p13.11 616133 MPV17L2 MPV17-like protein 2 MPV17L2 84769 ENSG00000254858 Mpv17l2 (MGI:2681846)
chr19 18196783 18204063 19p13.1-p12 19p13.11 179490 RAB3A RAS-associated protein RAB3A RAB3A 5864 ENSG00000105649 Rab3a (MGI:97843)
chr19 18207960 18248199 19p13.1 19p13.11 600128 PDE4C, DPDE1 Phosphodiesterase-4C, cAMP-specific (dunce, Drosophila, homolog phosphodiesterase E1) PDE4C 5143 ENSG00000285188 between JUND (proximal) and RAB3A (distal) Pde4c (MGI:99556)
chr19 18279693 18281655 19p13.1-p12 19p13.11 165162 JUND jun D proto-oncogene JUND 3727 ENSG00000130522 Jund (MGI:96648)
chr19 18306229 18323190 19p13.11 19p13.11 607284 LSM4 LSM4 protein LSM4 25804 ENSG00000130520 Lsm4 (MGI:1354692)
chr19 18340572 18369952 19p13.11 19p13.11 610694 PGPEP1, PCP, PGP Pyroglutamyl peptidase I PGPEP1 54858 ENSG00000130517 Pgpep1 (MGI:1913772)
chr19 18382169 18389176 19p13.2-p13.1 19p13.11 605312 GDF15, PLAB, PDF, MIC1 Growth/differentiation factor-15 (bone morphogenetic protein, placental) GDF15 9518 ENSG00000130513 Gdf15 (MGI:1346047)
chr19 18391136 18397644 19p13.2-p12 19p13.11 607518 LRRC25, MAPA Leucine rich repeat containing 25 LRRC25 126364 ENSG00000175489 Lrrc25 (MGI:2445284)
chr19 18418718 18434561 19p13.1 19p13.11 607391 SSBP4 Single-stranded DNA-binding protein 4 SSBP4 170463 ENSG00000130511 Ssbp4 (MGI:1924150)
chr19 18434387 18438648 19p13.1 19p13.11 611670 ISYNA1, IPS Myoinositol 1-phosphate synthase A1 ISYNA1 51477 ENSG00000105655 pseudogene on 4p15 Isyna1 (MGI:1919030)
chr19 18442662 18522126 19p13.1 19p13.11 600284 ELL ELL gene (11-19 lysine-rich leukemia gene) ELL 8178 ENSG00000105656 Ell (MGI:109377)
chr19 18531751 18544076 19p12 19p13.11 604840 FKBP8, FKBP38 FK506-binding protein 8 FKBP8 23770 ENSG00000105701 pseudogene on 1q32 Fkbp8 (MGI:1341070)
chr19 18557761 18569386 19p13.11 19p13.11 615178 KXD1, C10orf50 KXDL motif-containing protein 1 KXD1 79036 ENSG00000105700 Kxd1 (MGI:1922870)
chr19 18563765 18577459 19p13.1-p12 19p13.11 191321 UBA52 Ubiquitin A-52 residue ribosomal protein fusion product 1 UBA52 7311 ENSG00000221983 Uba52-ps (MGI:3644625)
chr19 18593224 18606849 19p12 19p13.11 604237 CRLF1, CISS1 Cytokine-like factor 1 CRLF1 9244 ENSG00000006016 Cold-induced sweating syndrome 1, 272430 (3), Autosomal recessive Crlf1 (MGI:1340030)
chr19 18612871 18621039 19p12 19p13.11 617096 TMEM59L, BSMAP Transmembrane protein 59-like TMEM59L 25789 ENSG00000105696 Tmem59l (MGI:1915187)
chr19 18683614 18782332 19p13 19p13.11 607536 CRTC1, MECT1, KIAA0616, FLJ14027 CREB-regulated transcription coactivator 1 CRTC1 23373 ENSG00000105662 t(11;19) Mucoepidermoid salivary gland carcinoma (3) Crtc1 (MGI:2142523)
chr19 18782772 18791304 19p13.1 19p13.11 600310 COMP, EDM1, MED, PSACH Cartilage oligomeric matrix protein COMP 1311 ENSG00000105664 Epiphyseal dysplasia, multiple, 1, 132400 (3), Autosomal dominant; Pseudoachondroplasia, 177170 (3), Autosomal dominant Comp (MGI:88469)
chr19 18831404 18868231 19p13.2-p13.11 19p13.11 601430 UPF1, RENT1, HUPF1 Upf1, yeast, homolog of UPF1 5976 ENSG00000005007 Upf1 (MGI:107995)
chr19 18868545 18896726 19p12 19p13.11 606919 CERS1, LASS1, UOG1, EPM8 Ceramide synthase 1 CERS1 10715 ENSG00000223802 mutation identified in 1 EPM8 family ?Epilepsy, progressive myoclonic, 8, 616230 (3), Autosomal recessive Cers1 (MGI:2136690)
chr19 18868545 18896143 19p12 19p13.11 602880 GDF1, DTGA3, DORV, RAI Growth/differentiation factor 1 GDF1 2657 ENSG00000223802 Double-outlet right ventricle, 217095 (3); Right atrial isomerism, 208530 (3), Autosomal recessive; Tetralogy of Fallot, 187500 (3), Autosomal dominant; Transposition of great arteries, dextro-looped 3, 613854 (3), Autosomal dominant Gdf1 (MGI:95683)
chr19 18899510 18919402 19p13.11 19p13.11 606942 COPE Cotamer protein complex, subunit epsilon COPE 11316 ENSG00000105669 Cope (MGI:1891702)
chr19 18929200 18941257 19p13.11 19p13.11 604800 HOMER3 Homer, homolog 3 (Drosophila) HOMER3 9454 ENSG00000051128 Homer3 (MGI:1347359)
chr19 18990886 19034051 19p13.11 19p13.11 607993 SUGP2, SRFS14, KIAA0365 SURP and G-patch domains-containing protein 2 SUGP2 10147 ENSG00000064607 Sugp2 (MGI:2678085)
chr19 19063960 19113029 19p13.11 19p13.11 610823 SLC25A42 Solute carrier family 25, member 42 SLC25A42 284439 ENSG00000181035 Slc25a42 (MGI:1920345)
chr19 19145566 19170288 19p12 19p13.11 600661 MEF2B MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B) MEF2B 100271849 ENSG00000213999 Mef2b (MGI:104526)
chr19 19176903 19192590 19p13.11 19p13.11 616601 BORCS8, MEF2BNB BLOC1-related complex, subunit 8 BORCS8 729991 ENSG00000254901 Borcs8 (MGI:1919618)
chr19 19192198 19201868 19p12 19p13.11 603200 RFXANK Regulatory factor X, ankyrin repeat-containing RFXANK 8625 ENSG00000064490 MHC class II deficiency, complementation group B, 209920 (3), Autosomal recessive Rfxank (MGI:1333865)
chr19 19211972 19252251 19p12 19p13.11 600826 CSPG3, NCAN Chondroitin sulfate proteoglycan 3 (neurocan) NCAN 1463 ENSG00000130287 Ncan (MGI:104694)
chr19 19264364 19273264 19p12 19p13.11 606563 TM6SF2, KIAA1926 Transmembrane 6 superfamily, member 2 TM6SF2 53345 ENSG00000213996 Tm6sf2 (MGI:1933210)
chr19 19276512 19320511 19p13.11 19p13.11 607992 SUGP1, SF4 SURP and G-patch domains-containing protein 1 SUGP1 57794 ENSG00000105705 Sugp1 (MGI:1917866)
chr19 19320606 19358753 19p13.11 19p13.11 614560 MAU2, SCC4, KIAA0892 MAU2 chromatid cohesion factor, C. elegans, homolog of MAU2 23383 ENSG00000129933 Mau2 (MGI:1921799)
chr19 19385802 19508931 19q13.11 19p13.11 614997 GATAD2A GATA zinc finger domain-containing protein 2A GATAD2A 54815 ENSG00000167491 Gatad2a (MGI:2384585)
chr19 19514218 19515659 19p13.11 19p13.11 610712 TSSK6, SSTK, TSSK4 Testis-specific serine/threonine kinase 6 TSSK6 83983 ENSG00000178093 Tssk6 (MGI:2148775)
chr19 19516209 19528203 19p13.2-p13.1 19p13.11 609435 NDUFA13, GRIM19 NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 13 NDUFA13 51079 ENSG00000186010 {Thyroid carcinoma, Hurthle cell}, 607464 (3) Ndufa13 (MGI:1914434)
chr19 19538264 19546658 19p13.11 19p13.11 612419 CILP2 Cartilage intermediate layer protein 2 CILP2 148113 ENSG00000160161 Cilp2 (MGI:1915959)
chr19 19561706 19618915 19p13.11 19p13.11 608127 PBX4 Pre-B-cell leukemia transcription factor 4 PBX4 80714 ENSG00000105717 Pbx4 (MGI:1931321)
chr19 19623654 19628394 19p12 19p13.11 605110 LPAR2, EDG4 Lysophosphatidic acid receptor 2 LPAR2 9170 ENSG00000064547 Lpar2 (MGI:1858422)
chr19 19629472 19643666 19p12-p11 19p13.11 609694 GMIP GEM-interacting protein GMIP 51291 ENSG00000089639 Gmip (MGI:1926066)
chr19 19668069 19683505 19p13.1-p12 19p13.11 603983 ZNF101 Zinc finger protein-101 ZNF101 94039 ENSG00000181896
chr19 19710471 19733111 19p13.3-p13.2 19p13.11 194556 ZNF14, KOX6 Zinc finger protein-14 (KOX 6) ZNF14 7561 ENSG00000105708 Zfp976,Zfp975 (MGI:3648690,MGI:3036263)
chr19 19756370 19776412 19p13.11 19p13.11 617117 LINC00663 Long intergenic noncoding RNA 663 LINC00663 284440
chr19 19865829 19893483 19p13 19p13.11 606954 ZNF253 Zinc finger protein 253 ZNF253 56242 ENSG00000256771 Zfp65 (MGI:107769)
chr19 19900912 19935572 19p13.1-p12 19p12 603975 ZNF93 Zinc finger protein-93 ZNF93 81931 ENSG00000184635 Zfp457 (MGI:2664334)
chr19 20077993 20127089 19p13.1-p12 19p12 603973 ZNF90 Zinc finger protein-90 ZNF90 7643 ENSG00000213988
chr19 20531229 20565820 19p13.1-p12 19p12 603984 ZNF737, ZNF102 Zinc finger protein-737 ZNF737 100129842 ENSG00000237440
chr19 20923226 20950696 19p13.1-p12 19p12 603899 ZNF85 Zinc finger protein-85 ZNF85 7639 ENSG00000105750
chr19 21724040 21767627 19p13.1-p12 19p12 603982 ZNF100 Zinc finger protein-100 ZNF100 163227 ENSG00000197020
chr19 21804948 21852094 19p13.1-p12 19p12 603972 ZNF43 Zinc finger protein-43 ZNF43 7594 ENSG00000198521 Zfp458 (MGI:3040691)
chr19 21939765 22010942 19p13.1-p12 19p12 603977 ZNF208, ZNF95 Zinc finger protein-208 ZNF208 7757 ENSG00000160321 Zfp619 (MGI:1917477)
chr19 22052447 22091102 19p12 19p12 606957 ZNF257 Zinc finger protein 257 ZNF257 113835 ENSG00000197134
chr19 22391096 22422345 19p12 19p12 603980 ZNF98 Zinc finger protein-98 ZNF98 148198 ENSG00000197360
chr19 22752182 22784170 19p12 19p12 603981 ZNF99 Zinc finger protein-99 ZNF99 7652 ENSG00000213973
chr19 23305003 23395559 19p13.1-p12 19p12 603971 ZNF91 Zinc finger protein-91 ZNF91 7644 ENSG00000167232 Zfp869 (MGI:1914119)
chr19 24033404 24129967 19p13.12-p13.11 19p12 604768 ZNF254, ZNF91L Zinc finger protein-254 ZNF254 9534 ENSG00000213096
chr19 26200000 58617616 19q 601764 BFIS1, BFIC1 Benign familial infantile seizures 8181 Seizures, benign familial infantile, 1, 601764 (2), Autosomal dominant
chr19 26200000 58617616 19q 607592 HPCQTL19 Prostate cancer aggressiveness quantitative trait locus on chromosome 19 347747 D19S902 {Prostate cancer aggressiveness QTL}, 176807 (2), Autosomal dominant
chr19 26200000 58617616 19q 606712 SLI2 Specific language impairment QTL, 2 171014 Specific language impairment QTL, 2, 606712 (2), Multifactorial
chr19 28100000 31900000 19q12 606875 HSCR7 Hirschsprung disease, susceptibility to, 7 246322 {Hirschsprung disease, susceptibility to, 7}, 606875 (2)
chr19 29207259 29213228 19q12 19q12 191327 UQCRFS1 Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 UQCRFS1 7386 ENSG00000169021 Uqcrfs1 (MGI:1913944)
chr19 29606262 29617254 19q12 19q12 606114 RPP29, POP4 Ribonuclease P, 29kD subunit POP4 10775 ENSG00000105171 Pop4 (MGI:1913411)
chr19 29665419 29675476 19q11 19q12 615200 PLEKHF1, LAPF, PHAFIN1 Pleckstrin homolog domain-containing protein, family F, member 1 PLEKHF1 79156 ENSG00000166289 Plekhf1 (MGI:1919537)
chr19 29698885 29715788 19q12 19q12 614297 C19orf12, NBIA4, SPG43 Chromosome 19 open reading frame 12 C19orf12 83636 ENSG00000131943 mutation identified in 1 SPG43 family Neurodegeneration with brain iron accumulation 4, 614298 (3), Autosomal recessive; ?Spastic paraplegia 43, autosomal recessive, 615043 (3), Autosomal recessive 1600014C10Rik (MGI:1919494)
chr19 29811993 29824316 19q13.1 19q12 123837 CCNE1 Cyclin E1 CCNE1 898 ENSG00000105173 Ccne1 (MGI:88316)
chr19 29923643 30016611 19q12 19q12 603494 URI1, NNX3, RMP Prefoldin-like chaperone URI1 URI1 8725 ENSG00000105176 Uri1 (MGI:1342294)
chr19 31149869 31349524 19q13.11 19q12 614119 TSHZ3, KIAA1474 Teashirt zinc finger homeobox 3 TSHZ3 57616 ENSG00000121297 Tshz3 (MGI:2442819)
chr19 31900000 58617616 19q13 100070 AAA1, AAA Aortic aneurysm, familial abdominal 1 100329167 near D19S416 Aortic aneurysm, familial abdominal 1, 100070 (2), Autosomal dominant
chr19 31900000 58617616 19q13 608542 ANIB2 Aneurysm, intracranial berry, 2 ANIB2 449013 between D19S245 and D19S246 Aneurysm, intracranial berry, 2, 608542 (2)
chr19 31900000 58617616 19q13 609376 CTRCT35, CATCN1 Cataract 35 619404 max lod at D19S416 Cataract 35, congenital nuclear, 609376 (2), Autosomal recessive
chr19 31900000 35100000 19q13.11 613026 DEL19q13.11d, C19DELq13.11d Chromosome 19q13.11 deletion syndrome, distal contiguous gene syndrome Chromosome 19q13.11 deletion syndrome, distal, 613026 (4), Autosomal dominant
chr19 31900000 35100000 19q13.11 617219 DEL19q13.11p, C19DELq13.11p Chromosome 19q13.11 deletion syndrome, proximal Chromosome 19q13.11 deletion syndrome, proximal, 617219 (4), Autosomal dominant
chr19 31900000 58617616 19q13.1-qter 129150 E11S Echo 11 sensitivity E11S 1878
chr19 31900000 58617616 19q13 611907 EA7 Episodic ataxia, type 7 100188859 between rs1366444 and rs952108 Episodic ataxia, type 7, 611907 (2), Autosomal dominant
chr19 31900000 58617616 19q13 600757 OFC3 Orofacial cleft-3 OFC3 4965 ?role of BCL3 Orofacial cleft-3, 600757 (2), ?Autosomal dominant
chr19 31900000 58617616 19q13 614746 UAQTL5 Uric acid concentration, serum, quantitative trait locus 5 100996934 associated with rs150414818 [Uric acid concentration, serum, QTL5], 614746 (2)
chr19 32405748 32485892 19q13.11 19q13.11 613894 DPY19L3 DPY19-like 3 DPY19L3 147991 ENSG00000178904 Dpy19l3 (MGI:2443952)
chr19 32581187 32587451 19q13.11 19q13.11 604583 PDCD5, TFAR19 Programmed cell death 5 PDCD5 9141 ENSG00000105185 Pdcd5,Pdcd5-ps (MGI:3782009,MGI:1913538)
chr19 32675406 32678299 19q13.11 19q13.11 607814 RGS9BP, R9AP, RGS9, PERRS Regulator of G protein signaling 9-binding protein RGS9BP 388531 ENSG00000186326 Bradyopsia, 608415 (3) Rgs9bp (MGI:2384418)
chr19 32830510 32870956 19q13.1 19q13.11 604144 SLC7A9, CSNU3 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 SLC7A9 11136 ENSG00000021488 Cystinuria, 220100 (3), Autosomal recessive, Autosomal dominant Slc7a9 (MGI:1353656)
chr19 32875924 32972028 19q13.11 19q13.11 615470 CEP89, CCDC123, CEP123, FLJ14640 Centrosomal protein, 89kD CEP89 84902 ENSG00000121289 Cep89 (MGI:1919390)
chr19 32972211 32977494 19q13.11 19q13.11 610884 C19orf40, FAAP24 Chromosome 19 open reading frame 40 (Fanconi anemia-associated protein, 24kD FAAP24 91442 ENSG00000131944 Faap24 (MGI:2142208)
chr19 32978591 33064917 19q13.11 19q13.11 617932 RHPN2 Rhophilin 2 RHPN2 85415 ENSG00000131941
chr19 33194692 33208866 19q12-q13.2 19q13.11 603159 LRP3 Low density lipoprotein receptor related protein 3 LRP3 4037 ENSG00000130881 Lrp3 (MGI:3584516)
chr19 33208663 33225849 19q13.11 19q13.11 607959 SLC7A10, ASC1 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 10 SLC7A10 56301 ENSG00000130876 Slc7a10 (MGI:1858261)
chr19 33299933 33302563 19q13.1 19q13.11 116897 CEBPA, CEBP CCAAT/enhancer-binding protein (C/EBP), alpha CEBPA 1050 ENSG00000245848 germline mutation identified in 1 AML family ?Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Leukemia, acute myeloid, somatic, 601626 (3) Cebpa (MGI:99480)
chr19 33373668 33382685 19q13.11 19q13.11 138972 CEBPG, GPE1BP CCAAT/enhancer-binding protein, gamma CEBPG 1054 ENSG00000153879 Cebpg (MGI:104982)
chr19 33386948 33521892 19cen-q13.11 19q13.11 613230 PEPD Peptidase D (prolidase) PEPD 5184 ENSG00000124299 closely linked to APOC2 Prolidase deficiency, 170100 (3), Autosomal recessive Pepd (MGI:97542)
chr19 33621954 33773508 19q13.1 19q13.11 610190 CHST8, GALNAC4ST1, PSS3 Carbohydrate sulfotransferase 8 CHST8 64377 ENSG00000124302 mutation has been identified in 1 PSS3 family ?Peeling skin syndrome 3, 616265 (3), Autosomal recessive Chst8 (MGI:1916197)
chr19 33795539 33815760 19q13.11 19q13.11 615240 KCTD15 Potassium channel tetramerization domain-containing protein 15 KCTD15 79047 ENSG00000153885 Kctd15 (MGI:2385276)
chr19 34172446 34229514 19q13.11 19q13.11 610677 LSM14A, RAP55 LSM14A protein LSM14A 26065 ENSG00000257103 Lsm14a (MGI:1914320)
chr19 34353329 34402412 19q13.1 19q13.11 172400 GPI Glucose phosphate isomerase; neuroleukin GPI 2821 ENSG00000105220 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3), Autosomal recessive Gpi1 (MGI:95797)
chr19 34404397 34426167 19q13.11 19q13.11 615661 PDCD2L, MGC13096 Programmed cell death 2-like protein PDCD2L 84306 ENSG00000126249 Pdcd2l (MGI:1915329)
chr19 34428175 34469892 19q12 19q13.11 613295 UBA2, SAE2 Ubiquitin-like modifier-activating enzyme 2 UBA2 10054 ENSG00000126261 Uba2 (MGI:1858313)
chr19 34481932 34509146 19q13.12 19q13.11 614790 WTIP WT1-interacting protein WTIP 126374 ENSG00000142279 Wtip (MGI:2141920)
chr19 34590624 34594584 19q13.11 19q13.11 615063 SCGB2B2 Secretoglobin, family 2B, member 2 SCGB2B2 284402 ENSG00000205209
chr19 34734193 34746482 19q13.2 19q13.11 606741 ZNF181 Zinc finger protein-181 ZNF181 339318 ENSG00000197841
chr19 35030687 35040448 19q13.1 19q13.11 600235 SCN1B, GEFSP1, BRGDA5, ATFB13, EIEE52 Sodium channel, voltage-gated, type I, beta polypeptide SCN1B 6324 ENSG00000105711 Atrial fibrillation, familial, 13, 615377 (3), Autosomal dominant; Brugada syndrome 5, 612838 (3); Cardiac conduction defect, nonspecific, 612838 (3); Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 52, 617350 (3), Autosomal recessive Scn1b (MGI:98247)
chr19 35040505 35066572 19q11-q13.2 19q13.11 142440 HPN Hepsin HPN 3249 ENSG00000105707 Hpn (MGI:1196620)
chr19 35115817 35124323 19q13.12 19q13.12 604996 FXYD3, PLML, MAT8 FXYD domain-containing ion transport regulator 3 FXYD3 5349 ENSG00000089356 Fxyd3 (MGI:107497)
chr19 35124512 35135273 19q13.11 19q13.12 608303 LGI4, AMCNMY Leucine-rich gene, glioma-inactivated, 4 LGI4 163175 ENSG00000153902 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive Lgi4 (MGI:2180197)
chr19 35137205 35143054 19q13.1 19q13.12 602359 FXYD1, PLM FXYD domain-containing ion transport regulator 1 (phospholemman) FXYD1 5348 ENSG00000266964 Fxyd1 (MGI:1889273)
chr19 35143249 35154301 19q13.12 19q13.12 606684 FXYD7 FXYD domain-containing ion transport regulator 7 FXYD7 53822 ENSG00000221946 Fxyd7 (MGI:1889006)
chr19 35154721 35169884 19q13.12 19q13.12 606669 FXYD5 FXYD domain-containing ion transport regulator 5 FXYD5 53827 ENSG00000089327 Fxyd5 (MGI:1201785)
chr19 35248655 35267963 19q13.12 19q13.12 616582 LSR Lipolysis-stimulated lipoprotein receptor LSR 51599 ENSG00000105699 Lsr (MGI:1927471)
chr19 35268977 35279820 19q13.1 19q13.12 600390 USF2, FIP Upstream transcription factor 2, c-fos interacting USF2 7392 ENSG00000105698 Usf2 (MGI:99961)
chr19 35282345 35285142 19q13 19q13.12 606464 HAMP, LEAP1, HEPC, HFE2B Hepcidin antimicrobial peptide HAMP 57817 ENSG00000105697 digenic form with HAMP and HFE mutations Hemochromatosis, type 2B, 613313 (3), Autosomal recessive
chr19 35292085 35313806 19q13.1 19q13.12 159460 MAG, GMA, SPG75 Myelin-associated glycoprotein MAG 4099 ENSG00000105695 Spastic paraplegia 75, autosomal recessive, 616680 (3), Autosomal recessive Mag (MGI:96912)
chr19 35329165 35347360 19q13.1 19q13.12 107266 CD22 CD22 antigen CD22 933 ENSG00000012124 Cd22 (MGI:88322)
chr19 35351541 35352463 19q13.1 19q13.12 603820 FFAR1, GPR40 Free fatty acid receptor 1 FFAR1 2864 ENSG00000126266 Ffar1 (MGI:2684079)
chr19 35358105 35360490 19q13.1 19q13.12 603821 FFAR3, GPR41 Free fatty acid receptor 3 FFAR3 2865 ENSG00000185897 Ffar3 (MGI:2685324)
chr19 35371094 35372452 19q13.1 19q13.12 603822 GPR42 G protein-coupled receptor-42 GPR42 2866 ENSG00000126251
chr19 35447964 35451766 19q13.1 19q13.12 603823 FFAR2, GPR43 Free fatty acid receptor 2 FFAR2 2867 ENSG00000126262 Ffar2 (MGI:2441731)
chr19 35487323 35490530 19q13.1 19q13.12 617212 KDAP Keratinocyte differentiation-associated protein KRTDAP 388533 ENSG00000188508 Krtdap (MGI:1928282)
chr19 35497216 35513677 19q13.1 19q13.12 617211 DMKN Dermokine DMKN 93099 ENSG00000161249 Dmkn (MGI:1920962)
chr19 35523366 35528370 19q13.1 19q13.12 609969 SBSN Suprabasin SBSN 374897 ENSG00000189001 Sbsn (MGI:2446326)
chr19 35533411 35545318 19q13.1 19q13.12 609169 GAPDHS, GAPD2 Glyceraldehyde-3-phosphate dehydrogenase, spermatogenic GAPDHS 26330 ENSG00000105679 9.5 Mbp prox. to APOE Gapdhs (MGI:95653)
chr19 35550192 35563657 19q13.1 19q13.12 137216 ATP4A, ATP6A ATPase, H+, K+ transporting, alpha ATP4A 495 ENSG00000105675 Atp4a (MGI:88113)
chr19 35612743 35625348 19q13.12 19q13.12 613432 HAUS5, DGT5, KIAA0841 HAUS augmin-like complex, subunit 5 HAUS5 23354 ENSG00000249115 Haus5 (MGI:1919159)
chr19 35629015 35637685 19q13.12 19q13.12 613232 RBM42 RNA-binding motif protein 42 RBM42 79171 ENSG00000126254 Rbm42 (MGI:1915285)
chr19 35641174 35644870 19q13.1 19q13.12 609358 ETV2, ETSRP71 ETS variant gene 2 ETV2 2116 ENSG00000105672 Etv2 (MGI:99253)
chr19 35648222 35658783 19q13.1 19q13.12 124089 COX6B1 Cytochrome c oxidase, subunit VIb polypeptide 1 (ubiquitous) COX6B1 1340 ENSG00000126267 Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial Cox6b1 (MGI:107460)
chr19 35666515 35678484 19q13.1 19q13.12 611557 UPK1A, UPIA Uroplakin 1A UPK1A 11045 ENSG00000105668 Upk1a (MGI:98911)
chr19 35704480 35717047 19q13.1 19q13.12 605859 ZBTB32, FAXF, TZFP, ROG Zinc finger- and BTB domain-containing protein 32 ZBTB32 27033 ENSG00000011590 Zbtb32 (MGI:1891838)
chr19 35717817 35738879 19q13.1 19q13.12 606834 KMT2B, MLL4, KIAA0304, DYT28 Lysine (K)-specific methyltransferase 2B KMT2B 9757 ENSG00000272333 Dystonia 28, childhood-onset, 617284 (3), Autosomal dominant Kmt2b (MGI:109565)
chr19 35738800 35742449 19q13.12 19q13.12 614143 IGFLR1, TMEM149 IGF-like family receptor 1 IGFLR1 79713 ENSG00000126246 Igflr1 (MGI:3655979)
chr19 35742526 35745441 19q13.2 19q13.12 601080 U2AF1L4, U2AF1RS3 U2 small nuclear RNA auxillary factor 1-like 4 U2AF1L4 199746 ENSG00000161265
chr19 35745576 35747518 19q13.1 19q13.12 607632 PSENEN, PEN2, ACNINV2 Presenilin enhancer 2, C. elegans, homolog of PSENEN 55851 ENSG00000205155 Acne inversa, familial, 2, with or without Dowling-Degos disease, 613736 (3), Autosomal dominant Psenen (MGI:1913590)
chr19 35754565 35757028 19q13.13 19q13.12 610695 HSPB6, HSP20 Heat-shock 27kD protein 6 HSPB6 126393 ENSG00000004776 Hspb6 (MGI:2685325)
chr19 35775514 35788821 19q13.12 19q13.12 614902 ARHGAP33, TCGAP Rho GTPase-activating protein 33 ARHGAP33 115703 ENSG00000004777 Arhgap33 (MGI:2673998)
chr19 35799986 35813298 19q13.12 19q13.12 616377 PRODH2, HYPDH Proline dehydrogenase (oxidase) 2 PRODH2 58510 ENSG00000250799 Prodh2 (MGI:1929093)
chr19 35825371 35851992 19q13.1 19q13.12 602716 NPHS1, NPHN Nephrin NPHS1 4868 ENSG00000161270 Nephrotic syndrome, type 1, 256300 (3), Autosomal recessive Nphs1 (MGI:1859637)
chr19 35851634 35867145 19q13.1 19q13.12 607762 KIRREL2, NEPH3, NLG1, FILTRIN Kin or IRRE-like 2 (nephrin-like 3) KIRREL2 84063 ENSG00000126259 Kirrel2 (MGI:2442334)
chr19 35868444 35879796 19q13.2 19q13.12 104775 APLP1, APLP Amyloid beta (A4) precursor-like protein-1 APLP1 333 ENSG00000105290 Aplp1 (MGI:88046)
chr19 35902364 35904270 19q13.1 19q13.12 604089 DAP10 DNAX-activation protein 10 HCST 10870 ENSG00000126264 Hcst (MGI:1344360)
chr19 35904400 35908308 19q13.1 19q13.12 604142 TYROBP, PLOSL, DAP12 TYRO protein tyrosine kinase-binding protein TYROBP 7305 ENSG00000011600 Nasu-Hakola disease, 221770 (3), Autosomal recessive Tyrobp (MGI:1277211)
chr19 35937119 35945194 19q13.2 19q13.12 612809 LRFN3, SALM4 Leucine-rich repeat and fibronectin type III domain-containing protein 3 LRFN3 79414 ENSG00000126243 Lrfn3 (MGI:2442512)
chr19 35995187 35996317 19q12-q13.2 19q13.12 612848 SDHAF1 Succinate dehydrogenase complex assembly factor 1 SDHAF1 644096 ENSG00000205138 Mitochondrial complex II deficiency, 252011 (3), Autosomal recessive Sdhaf1 (MGI:1915582)
chr19 36003298 36008792 19q13.12 19q13.12 615535 SYNE4, NESP4, C19orf46, DFNB76 Spectrin repeat-containing nuclear envelope protein 4 SYNE4 163183 ENSG00000181392 Deafness, autosomal recessive 76, 615540 (3), Autosomal recessive Syne4 (MGI:2141950)
chr19 36009115 36014242 19q13.12 19q13.12 613304 ALKBH6, ABH6 AlkB, E. coli, homolog of, 6 ALKBH6 84964 ENSG00000239382 Alkbh6 (MGI:2142037)
chr19 36014659 36032894 19q13 19q13.12 607382 CLIP3, CLIPR59 CAP-GLY domain-containing linker protein 3, 607382 (3) CLIP3 25999 ENSG00000105270 Clip3 (MGI:1923936)
chr19 36034984 36054761 19q13.12 19q13.12 612536 THAP8 THAP domain-containing protein 8 THAP8 199745 ENSG00000161277
chr19 36054880 36111144 19q13.12 19q13.12 613583 WDR62, C19orf14, MCPH2 WD repeat-containing protein 62 WDR62 284403 ENSG00000075702 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3), Autosomal recessive Wdr62 (MGI:1923696)
chr19 36111179 36113710 19q13.1 19q13.12 616442 OVOL3 ovo-like 3 OVOL3 728361 ENSG00000105261 Ovol3 (MGI:2388075)
chr19 36113708 36115303 19q12 19q13.12 180662 POLR2I Polymerase (RNA) II (DNA directed) polypeptide I, 14.5kD POLR2I 5438 ENSG00000105258 Polr2i (MGI:1917170)
chr19 36114948 36125947 19q13.11-q13.12 19q13.12 601303 CKAP1 Cytoskeleton-associated protein 1 TBCB 1155 ENSG00000105254 Tbcb (MGI:1913661)
chr19 36139925 36150352 19q13.12 19q13.12 114170 CAPNS1, CAPN4 Calpain, small polypeptide CAPNS1 826 ENSG00000126247 Capns1 (MGI:88266)
chr19 36150921 36152868 19q13.12 19q13.12 123995 COX7A1, COX7AM Cytochrome c oxidase, subunit VIIa, polypeptide-1, muscle COX7A1 1346 ENSG00000161281 Cox7a1 (MGI:1316714)
chr19 36182059 36215083 19q13.12 19q13.12 614275 ZNF565 Zinc finger protein 565 ZNF565 147929 ENSG00000196357 Zfp84 (MGI:107780)
chr19 36214601 36238773 19q13.1 19q13.12 601505 ZNF146, OZF Zinc finger protein-146 ZNF146 7705 ENSG00000167635 Zfp146 (MGI:1347092)
chr19 36510686 36528487 19q13.12 19q13.12 613749 ZNF260, PEX1 Zinc finger protein 260 ZNF260 339324 ENSG00000254004 Zfp260 (MGI:1347071)
chr19 36605304 36628596 19q13.13 19q13.12 609516 ZNF382, KS1 Zinc finger protein 382 ZNF382 84911 ENSG00000161298 Zfp382 (MGI:3588204)
chr19 36636620 36666852 19q13.4 19q13.12 608640 ZNF461, GIOT1 Zinc finger protein-461 ZNF461 92283 ENSG00000197808
chr19 36916328 36997931 19q13.12 19q13.12 617566 ZNF568, ZFP568 Zinc finger protein 568 ZNF568 374900 ENSG00000198453
chr19 37007814 37130366 19q13.12 19q13.12 617216 ZNF420, APAK Zinc finger protein 420 ZNF420 147923 ENSG00000197050 Zfp420 (MGI:2444666)
chr19 37312836 37364454 19q13.12 19q13.12 165250 HKR1 GLI-Kruppel family member HKR1 (oncogene HKR1) HKR1 284459 ENSG00000181666
chr19 37411141 37469262 19q13.12 19q13.12 613904 ZNF569 Zinc finger protein 569 ZNF569 148266 ENSG00000196437 Zfp74 (MGI:107784)
chr19 37551370 37614178 19q13.13 19q13.12 613903 ZNF540 Zinc finger protein 540 ZNF540 163255 ENSG00000171817
chr19 37631008 37656260 19q13.12 19q13.12 617317 ZFP30, ZNF745, KIAA0961 Zinc finger protein 30, mouse, homolog of ZFP30 22835 ENSG00000120784 Zfp30 (MGI:99178)
chr19 37906821 38208371 19q13.1 19q13.1-q13.2 616655 SIPA1L3, SPAL3, SPAR3, KIAA0545, CTRCT45 SIPA1-like protein 3 SIPA1L3 23094 ENSG00000105738 mutation identified in 1 CTRCT45 family ?Cataract 45, 616851 (3), Autosomal recessive Sipa1l3 (MGI:1921456)
chr19 38200000 58617616 19q13.2-q13.4 603855 CFM1 Cystic fibrosis modifier-1 CFM1 10167 {Meconium ileus in cystic fibrosis, susceptibility to}, 603855 (2)
chr19 38200000 50900000 19q13.2-q13.3 611097 MRT11 Mental retardation, autosomal recessive, 11 MRT11 100101426 between rs2109075 and rs8101149 Mental retardation, autosomal recessive, 11, 611097 (2), Autosomal recessive
chr19 38200000 42900000 19q13.2 227050 TEC Transient erythroblastopenia of childhood 100124696 Transient erythroblastopenia of childhood, 227050 (2), Autosomal recessive
chr19 38200000 50900000 19q13.2-q13.3 165060 TRNAU1, TRSP Transfer RNA selenocysteine 1 (anticodon UCA) TRU-TCA1-1 7234 pseudogene on 22
chr19 38211005 38229713 19q13.13-q13.2 19q13.2 601670 DPF1, NEUD4 D4, zinc, and double PHD fingers family, member 1 DPF1 8193 ENSG00000011332 Dpf1 (MGI:1352748)
chr19 38251236 38256590 19q13.1 19q13.2 608153 PPP1R14A, CPI17 Protein phosphatase 1, regulatory subunit 14A PPP1R14A 94274 ENSG00000167641 Ppp1r14a (MGI:1931139)
chr19 38264457 38292613 19q13.1 19q13.2 605124 SPINT2, HAI2, DIAR3 Serine protease inhibitor, Kunitz-type, 2 (hepatocyte growth factor activator inhibitor 2; bikunin, placental) SPINT2 10653 ENSG00000167642 Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3), Autosomal recessive Spint2 (MGI:1338031)
chr19 38319843 38329013 19q13.1 19q13.2 603939 KCNK6, TWIK2, TOSS Potassium channel, subfamily K, member 6 KCNK6 9424 ENSG00000099337 Kcnk6 (MGI:1891291)
chr19 38335562 38370948 19q13.1 19q13.2 613452 CATSPERG Cation channel, sperm-associated, gamma CATSPERG 57828 ENSG00000099338 Catsperg2,Catsperg1 (MGI:2443617,MGI:1923968)
chr19 38374549 38383823 19q13.2 19q13.2 617844 PSMD8 Proteasome 26S subunit, non-ATPase, 8 PSMD8 5714 ENSG00000099341 Psmd8 (MGI:1888669)
chr19 38384346 38388602 19q13.2 19q13.2 609966 GGN Gametogenetin, mouse, homolog of GGN 199720 ENSG00000179168 Ggn (MGI:2181461)
chr19 38390060 38399883 19q13.13 19q13.2 609293 SPRED3 Sprouty-related EVH1 domain-containing protein 3 SPRED3 399473 ENSG00000188766 Spred3 (MGI:2142186)
chr19 38409054 38426304 19q13.1 19q13.2 607320 RASGRP4 Ras guanyl nucleotide-releasing protein 4 RASGRP4 115727 ENSG00000171777 Rasgrp4 (MGI:2386851)
chr19 38433699 38587563 19q13.1 19q13.2 180901 RYR1, MHS, CCO Ryanodine receptor-1, skeletal RYR1 6261 ENSG00000196218 Central core disease, 117000 (3), Autosomal recessive, Autosomal dominant; King-Denborough syndrome, 145600 (3), Autosomal dominant; {Malignant hyperthermia susceptibility 1}, 145600 (3), Autosomal dominant; Minicore myopathy with external ophthalmoplegia, 255320 (3), Autosomal recessive; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3), Autosomal recessive, Autosomal dominant Ryr1 (MGI:99659)
chr19 38587639 38618034 19q13.1-q13.4 19q13.2 601983 MAP4K1, HPK1 Mitogen-activated protein kinase kinase kinase kinase 1 MAP4K1 11184 ENSG00000104814 Map4k1 (MGI:1346882)
chr19 38619071 38636958 19q13.2 19q13.2 609596 EIF3K, PLAC24, EIF3S12 Eukaryotic translation initiation factor 3, subunit K EIF3K 27335 ENSG00000178982 Eif3k (MGI:1921080)
chr19 38647615 38730531 19q13 19q13.2 604638 ACTN4, FSGS1, FSGS Actinin, alpha-4 ACTN4 81 ENSG00000130402 Glomerulosclerosis, focal segmental, 1, 603278 (3), Autosomal dominant Actn4 (MGI:1890773)
chr19 38730047 38744473 19q13 19q13.2 608839 CAPN12 Calpain 12 CAPN12 147968 ENSG00000182472 Capn12 (MGI:1891369)
chr19 38770967 38773516 19q13.2 19q13.2 600615 LGALS7 Lectin, galactoside-binding, soluble, 7 (galectin 7) LGALS7 3963 ENSG00000205076 Lgals7 (MGI:1316742)
chr19 38789209 38791753 19q13.2 19q13.2 617139 LGALS7B Lectin, galactoside-binding, soluble, 7B LGALS7B 653499 ENSG00000205076 Lgals7 (MGI:1316742)
chr19 38801670 38813613 19q13.2 19q13.2 602518 LGALS4 Lectin, galactoside-binding, soluble, 4 LGALS4 3960 ENSG00000171747 Lgals4 (MGI:107536)
chr19 38815421 38831856 19q13 19q13.2 600696 ECH1 Enoyl Coenzyme A hydratase 1, peroxisomal ECH1 1891 ENSG00000104823 Ech1 (MGI:1858208)
chr19 38836377 38852338 19q13.2 19q13.2 603083 HNRNPL, HNRPL Heterogeneous nuclear riboprotein 1 HNRNPL 3191 ENSG00000104824 Hnrnpl (MGI:104816)
chr19 38878554 38899861 19q 19q13.2 604480 SIRT2, SIR2L, SIR2L2 Sirtuin, S. cerevisiae, homolog 2 SIRT2 22933 ENSG00000068903 Sirt2 (MGI:1927664)
chr19 38899502 38908893 19q13.1 19q13.2 604495 NFKBIB, IKBB, TRIP9 Nuclear factor of kappa light chain gene enhancer in B cells inhibitor, beta NFKBIB 4793 ENSG00000104825 Nfkbib (MGI:104752)
chr19 38908170 38914370 19q13.2 19q13.2 617634 CCER2 Coiled-coil glutamate-rich protein 2 CCER2 643669 ENSG00000262484 Ccer2 (MGI:3645242)
chr19 38915263 38930895 19q13.2 19q13.2 612804 SARS2 Seryl-tRNA synthetase 2 SARS2 54938 ENSG00000104835 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3), Autosomal recessive Sars2 (MGI:1919234)
chr19 38930707 38933019 19q13.1 19q13.2 603021 MRPS12, RPSM12 Ribosomal protein, mitochondrial, S12 MRPS12 6183 ENSG00000128626 Mrps12 (MGI:1346333)
chr19 38941400 38975812 19q13.2 19q13.2 609094 FBXO17, FBX17, FBX26, FBG4 F-box only protein 17 FBXO17 115290 ENSG00000269190 Fbxo17 (MGI:1354707)
chr19 39007063 39032595 19q13.2 19q13.2 609099 FBXO27, FBX27, FBG5 F-box only protein 27 FBXO27 126433 ENSG00000161243 Fbxo27 (MGI:2685007)
chr19 39083010 39112073 19q13.2 19q13.2 610490 PAPL, FLJ16165 Purple acid phosphatase, long form ACP7 390928 ENSG00000183760 Acp7 (MGI:2142121)
chr19 39125779 39179405 19q13.2 19q13.2 605451 PAK4 p21-activated kinase 4 PAK4 10298 ENSG00000130669 Pak4 (MGI:1917834)
chr19 39196963 39201881 19q13.2 19q13.2 615901 NCCRP1, FBXO50 Nonspecific cytotoxic cell receptor protein 1, zebrafish, homolog of NCCRP1 342897 ENSG00000188505 Nccrp1 (MGI:2685009)
chr19 39243605 39245076 19q13.13 19q13.2 607402 IFNL3, IL28B Interferon, lambda 3 IFNL3 282617 ENSG00000197110 {Hepatitis C virus infection, response to therapy of}, 609532 (3) Ifnl2,Ifnl3 (MGI:3647279,MGI:2450574)
chr19 39246313 39248855 19q13.13 19q13.2 615090 IFNL4 Interferon, lambda-4 IFNL4 101180976 ENSG00000272395
chr19 39268516 39270091 19q13.13 19q13.2 607401 IFNL2, IL28A Interferon, lambda 2 IFNL2 282616 ENSG00000183709
chr19 39296324 39298671 19q13.13 19q13.2 607403 IFNL1, IL29 Interferon, lambda 1 IFNL1 282618 ENSG00000182393
chr19 39306816 39320866 19q13.2 19q13.2 612807 LRFN1, SALM2, KIAA1484 Leucine-rich repeat and fibronectin type III domain-containing protein 1 LRFN1 57622 ENSG00000128011 Lrfn1 (MGI:2136810)
chr19 39328356 39336085 19q13.2 19q13.2 604104 GMFG Glia maturation factor, gamma GMFG 9535 ENSG00000130755 Gmfg,Gmfg-ps (MGI:1927135,MGI:3704264)
chr19 39385628 39391194 19q13.2 19q13.2 610506 PAF1, PD2 PAF1 RNA polymerase II-associated factor, S. cerevisiae, homolog of PAF1 54623 ENSG00000006712 Paf1 (MGI:1923988)
chr19 39391302 39400636 19q13.2 19q13.2 612914 MED29, IXL Mediator complex subunit 29 MED29 55588 ENSG00000063322 Med29 (MGI:1914474)
chr19 39406846 39409411 19q13.1 19q13.2 190700 ZFP36, TTP Zfp36, mouse, homolog of ZFP36 7538 ENSG00000128016 Zfp36 (MGI:99180)
chr19 39412581 39428414 19q13.1 19q13.2 611893 PLEKHG2, CLG, LDAMD Pleckstrin homology domain-containing protein, family G, member 2 PLEKHG2 64857 ENSG00000090924 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3), Autosomal recessive Plekhg2 (MGI:2141874)
chr19 39433136 39436019 19q 19q13.2 603675 RPS16 Ribosomal protein S16 RPS16 6217 ENSG00000105193 Rps16 (MGI:98118)
chr19 39445545 39476669 19q13.1-q13.2 19q13.2 602102 SUPT5H, SPT5 Suppressor of Ty 5, S. cerevisiae, homolog of SUPT5H 6829 ENSG00000196235 Supt5 (MGI:1202400)
chr19 39480411 39493784 19q13.2 19q13.2 607381 TIMM50, TIM50, MGCA9 Translocase of inner mitochondrial membrane 50, yeast, homolog of TIMM50 92609 ENSG00000105197 3-methylglutaconic aciduria, type IX, 617698 (3), Autosomal recessive Timm50 (MGI:1913775)
chr19 39498916 39508480 19q13 19q13.2 602768 DLL3, SCDO1 Delta, Drosophila, homolog of DLL3 10683 ENSG00000090932 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3), Autosomal recessive Dll3 (MGI:1096877)
chr19 39515112 39520685 19q13.13 19q13.2 607919 SELENOV, SELV Selenoprotein V SELENOV 348303 ENSG00000186838 Selenov (MGI:3608324)
chr19 39538805 39540197 19q13.2 19q13.2 609773 EID2, CRI2 EP300-interacting inhibitor of differentiation 2 EID2 163126 ENSG00000176396 Eid2 (MGI:2681174)
chr19 39602410 39607473 19q13.1 19q13.2 608717 LGALS13, GAL13, PP13 Lectin, galactoside-binding, soluble, 13 LGALS13 29124 ENSG00000105198
chr19 39704305 39709447 19q13.2 19q13.2 607260 PPL13 Placental protein 13-like protein LGALS14 56891 ENSG00000006659
chr19 39731252 39738028 19q13.1 19q13.2 153310 CLC Charcot-Leyden crystal protein CLC 1178 ENSG00000105205
chr19 39825346 39834232 19q12-q13.11 19q13.2 604556 DYRK1B, MIRK, AOMS3 Dual-specificity tyrosine phosphorylation-regulated kinase 1B DYRK1B 9149 ENSG00000105204 Abdominal obesity-metabolic syndrome 3, 615812 (3), Autosomal dominant Dyrk1b (MGI:1330302)
chr19 39834452 39846413 19q13.2 19q13.2 134795 FBL Fibrillarin FBL 2091 ENSG00000105202 Fbl (MGI:95486)
chr19 39863322 39934625 19q13.2 19q13.2 617553 FCGBP Fc fragment of IgG-binding protein FCGBP 8857 ENSG00000275395 Fcgbp (MGI:2444336)
chr19 39971004 39981763 19q13.11-q13.13 19q13.2 602707 PSMC4, TBP7, S6 Proteasome 26S subunit, ATPase, 4 PSMC4 5704 ENSG00000013275 Psmc4 (MGI:1346093)
chr19 40191656 40215574 19q13.1-q13.2 19q13.2 600137 MAP3K10, MLK2, MST Mitogen-activated protein kinase kinase kinase 10 MAP3K10 4294 ENSG00000130758 Map3k10 (MGI:1346879)
chr19 40230316 40285530 19q13.1-q13.2 19q13.2 164731 AKT2, HIHGHH Murine thymoma viral (v-akt) homolog-2 AKT2 208 ENSG00000105221 Diabetes mellitus, type II, 125853 (3), Autosomal dominant; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3), Autosomal dominant Akt2 (MGI:104874)
chr19 40348394 40378489 19q13.2 19q13.2 615698 PLD3, HUK4, SCA46 Phospholipase D family, member 3 PLD3 23646 ENSG00000105223 mutation identified in 1 SCA46 family ?Spinocerebellar ataxia 46, 617770 (3), Autosomal dominant Pld3 (MGI:1333782)
chr19 40379270 40390864 19q13.2 19q13.2 611712 HIPK4 Homeodomain-interacting protein kinase 4 HIPK4 147746 ENSG00000160396 Hipk4 (MGI:2685008)
chr19 40393761 40414717 19q13.1-q13.2 19q13.2 605725 PRX, CMT4F Periaxin PRX 57716 ENSG00000105227 Charcot-Marie-Tooth disease, type 4F, 614895 (3), Autosomal recessive; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant Prx (MGI:108176)
chr19 40422500 40426024 19q13.2 19q13.2 617850 SERTAD1, TRIPBR1 SERTA domain-containing protein 1 SERTAD1 29950 ENSG00000197019 Sertad1 (MGI:1913438)
chr19 40440840 40444374 19q13.1 19q13.2 612125 SERTAD3, RBT1 SERTA domain-containing 3 SERTAD3 29946 ENSG00000167565 Sertad3 (MGI:2180697)
chr19 40447783 40465817 19q13.13-q13.2 19q13.2 600941 BLVRB, BVRB, FLR Biliverdin reductase B BLVRB 645 ENSG00000090013 Blvrb (MGI:2385271)
chr19 40467152 40576458 19q13.13 19q13.2 606214 SPTBN4, QV, CMND Spectrin, beta, nonerythrocytic, 4 (quivering, mouse, homolog of) SPTBN4 57731 ENSG00000160460 mutation identified in 1 CMND patient ?Myopathy, congenital, with neuropathy and deafness, 617519 (3), Autosomal recessive Sptbn4 (MGI:1890574)
chr19 40576850 40591398 19q13.2 19q13.2 617322 SHKBP1, SB1 SH3KBP1-binding protein 1 SHKBP1 92799 ENSG00000160410 Shkbp1 (MGI:2385803)
chr19 40592887 40629819 19q13.1-q13.2 19q13.2 604710 LTBP4, LTBP4S, LTBP4L, ARCL1C Latent transforming growth factor-beta-binding protein 4 LTBP4 8425 ENSG00000090006 Cutis laxa, autosomal recessive, type IC, 613177 (3), Autosomal recessive Ltbp4 (MGI:1321395)
chr19 40665904 40690657 19q13.13-q13.2 19q13.2 604018 NUMBL, NUMBR, NBL Numb, Drosophila, homolog-like NUMBL 9253 ENSG00000105245 Numbl (MGI:894702)
chr19 40691528 40716884 19q13.1 19q13.2 615567 COQ8B, ADCK4, NPHS9 Coenzyme Q8B COQ8B 79934 ENSG00000123815 Nephrotic syndrome, type 9, 615573 (3), Autosomal recessive Coq8b (MGI:1924139)
chr19 40717102 40740859 19q13.2 19q13.2 606476 ITPKC Inositol 1,4,5-trisphosphate 3-kinase C ITPKC 80271 ENSG00000086544 {Kawasaki disease, susceptibility to}, 611775 (3) Itpkc (MGI:2442554)
chr19 40750853 40765391 19q13.1 19q13.2 182285 SNRPA Small nuclear ribonucleoprotein polypeptide A SNRPA 6626 ENSG00000077312
chr19 40775176 40777492 19q13.32-q13.33 19q13.2 601340 MIA Melanoma inhibitory activity MIA 8190 ENSG00000261857 Mia (MGI:109615)
chr19 40778218 40796943 19q13.2-q13.3 19q13.2 612945 RAB4B Ras-associated protein RAB4B RAB4B 53916 ENSG00000167578 Rab4b (MGI:105071)
chr19 40799142 40808440 19q13.2 19q13.2 606424 EGLN2, PHD1, HIFPH1 Egl9, C. elegans, homolog of, 2 EGLN2 112398 ENSG00000269858 Egln2 (MGI:1932287)
chr19 40843537 40850446 19q13.2 19q13.2 122720 CYP2A6, CYP2A3, CYP2A, P450C2A Cytochrome P450, subfamily IIA, phenobarbital-inducible, polypeptide 6 CYP2A6 1548 ENSG00000255974 Coumarin resistance, 122700 (3), Autosomal dominant; {Lung cancer, resistance to}, 211980 (3), Autosomal recessive; {Nicotine addiction, protection from}, 188890 (3) Cyp2a4,Cyp2a5 (MGI:88597,MGI:88596)
chr19 40875438 40885950 19q13.2 19q13.2 608054 CYP2A7 Cytochrome P450, subfamily IIA, polypeptide 7 CYP2A7 1549 ENSG00000198077 Cyp2a4,Cyp2a5 (MGI:88597,MGI:88596)
chr19 40890825 40900507 19q13.2 19q13.2 601133 CYP2G1 Cytochrome P450, subfamily IIG, polypeptide 1 CYP2G1P 22952
chr19 40991298 41018395 19q13.2 19q13.2 123930 CYP2B6, CYP2B, EFVM Cytochrome P450, family 2, subfamily B, polypeptide 6 CYP2B6 1555 ENSG00000197408 same NotI fragment as CYP2A {Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3); Efavirenz, poor metabolism of, 614546 (3) Cyp2b10 (MGI:88598)
chr19 41088450 41096194 19q13.2 19q13.2 608055 CYP2A13 Cytochrome P450, subfamily IIA, polypeptide 13 CYP2A13 1553 ENSG00000197838 Cyp2a4,Cyp2a5 (MGI:88597,MGI:88596)
chr19 41114291 41128380 19q13.2 19q13.2 124070 CYP2F1 Cytochrome P450, subfamily IIF, polypeptide 1 CYP2F1 1572 ENSG00000197446 CYP2A, CYP2B, CYP2F1 in 240kb Cyp2f2 (MGI:88608)
chr19 41193206 41207538 19q13.2 19q13.2 611529 CYP2S1 Cytochrome P450, family 2, subfamily S, polypeptide 1 CYP2S1 29785 ENSG00000167600 Cyp2s1 (MGI:1921384)
chr19 41219198 41261766 19q13.1-q13.2 19q13.2 109135 AXL AXL transforming sequence (a receptor tyrosine kinase) AXL 558 ENSG00000167601 Axl (MGI:1347244)
chr19 41262475 41307782 19q13.2 19q13.2 605800 HNRNPUL1, HNRPUL1, E1BAP5 Heterogeneous nuclear ribonucleoprotein U-like 1 HNRNPUL1 11100 ENSG00000105323 Hnrnpul1 (MGI:2443517)
chr19 41330322 41353882 19q13.1 19q13.2 190180 TGFB1, DPD1, CED Transforming growth factor, beta-1 TGFB1 7040 ENSG00000105329 Camurati-Engelmann disease, 131300 (3), Autosomal dominant; {Cystic fibrosis lung disease, modifier of}, 219700 (3), Autosomal recessive Tgfb1 (MGI:98725)
chr19 41354416 41364533 19q13.2 19q13.2 611951 B9D2, MKS10, JBTS34 B9 domain-containing protein 2 B9D2 80776 ENSG00000123810 mutation identified in 1 MKS10 family Joubert syndrome 34, 614175 (3), Autosomal recessive; ?Meckel syndrome 10, 614175 (3), Autosomal recessive B9d2 (MGI:2387643)
chr19 41386369 41397350 19q13.2 19q13.2 606492 EXOSC5, RRP46 Exosome component 5 EXOSC5 56915 ENSG00000077348 Exosc5 (MGI:107889)
chr19 41397788 41425004 19q13.1-q13.2 19q13.2 608348 BCKDHA, MSUD1 Branched chain keto acid dehydrogenase E1, alpha polypeptide BCKDHA 593 ENSG00000248098 Maple syrup urine disease, type Ia, 248600 (3), Autosomal recessive Bckdha (MGI:107701)
chr19 41425358 41429023 19q13.2 19q13.2 615357 B3GNT8, BGALT15, B3GALT7 Beta-1,3-galactosyltransferase 8 B3GNT8 374907 ENSG00000177191 B3gnt8 (MGI:2385269)
chr19 41431317 41447821 19q13.2 19q13.2 617262 ATP5SL ATP5S-like protein DMAC2 55101 ENSG00000105341 Dmac2 (MGI:1913599)
chr19 41708584 41730432 19q13.2 19q13.2 114890 CEACAM5, CEA Carcinoembryonic antigen-related cell adhesion molecule 5 CEACAM5 1048 ENSG00000105388 proximal to PSG cluster in 1.1-1.2Mb segment
chr19 41755519 41772210 19q13.2 19q13.2 163980 CEACAM6, NCA Carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific crossreacting antigen) CEACAM6 4680 ENSG00000086548 in CEA cluster
chr19 41844742 41852329 19q13.2 19q13.2 614806 DMRTC2 Doublesex- and MAB3-related transcription factor C2 DMRTC2 63946 ENSG00000142025 Dmrtc2 (MGI:1918491)
chr19 41859917 41871415 19q13.2 19q13.2 603474 RPS19, DBA, DBA1 Ribosomal protein S19 RPS19 6223 ENSG00000105372 Diamond-Blackfan anemia 1, 105650 (3), Autosomal dominant Rps19 (MGI:1333780)
chr19 41877119 41881371 19q13.2 19q13.2 112205 CD79A, IGA CD79A antigen (immunoglobulin-associated alpha) CD79A 973 ENSG00000105369 Agammaglobulinemia 3, 613501 (3), Autosomal recessive Cd79a (MGI:101774)
chr19 41883199 41907451 19q13.13 19q13.2 601855 ARHGEF1, LBCL2 Rho guanine nucleotide exchange factor, 115-kD ARHGEF1 9138 ENSG00000076928 Arhgef1 (MGI:1353510)
chr19 41956680 41959375 19q13.2 19q13.2 604925 PRA1 Prenylated RAB acceptor 1 RABAC1 10567 ENSG00000105404 Rabac1 (MGI:1201692)
chr19 41966581 41994275 19q12-q13.2 19q13.2 182350 ATP1A3, DYT12, RDP, AHC2, CAPOS ATPase, Na+K+ transporting, alpha-3 polypeptide ATP1A3 478 ENSG00000105409 Alternating hemiplegia of childhood 2, 614820 (3), Autosomal dominant; CAPOS syndrome, 601338 (3), Autosomal dominant; Dystonia-12, 128235 (3), Autosomal dominant Atp1a3 (MGI:88107)
chr19 41998315 42071803 19q13.2 19q13.2 600283 GRIK5 Glutamate receptor, ionotropic, kainate 5 GRIK5 2901 ENSG00000105737 Grik5 (MGI:95818)
chr19 42086109 42197930 19q13.2 19q13.2 164176 POU2F2, OTF2, OCT2 POU domain, class 2, transcription factor 2 POU2F2 5452 ENSG00000028277 Pou2f2 (MGI:101897)
chr19 42198592 42220151 19q13.2 19q13.2 617078 DEDD2, FLAME3 Death effector domain-containing protein 2 DEDD2 162989 ENSG00000160570 Dedd2 (MGI:1914629)
chr19 42220270 42227052 19q13.2 19q13.2 614387 ZNF526, KIAA1951 Zinc finger protein 526 ZNF526 116115 ENSG00000167625 Zfp526 (MGI:2445181)
chr19 42247560 42255163 19q13.1 19q13.2 611888 ERF, PE2, CRS4, CHYTS ETS2 repressor factor ERF 2077 ENSG00000105722 Chitayat syndrome, 617180 (3), Autosomal dominant; Craniosynostosis 4, 600775 (3), Autosomal dominant Erf (MGI:109637)
chr19 42268536 42295795 19q13.2 19q13.2 612082 CIC, KIAA0306, MRD45 Capicua, Drosophila, homolog of CIC 23152 ENSG00000079432 Mental retardation, autosomal dominant 45, 617600 (3), Autosomal dominant Cic (MGI:1918972)
chr19 42297032 42302799 19q13.1 19q13.2 603074 PAFAH1B3 Platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit PAFAH1B3 5050 ENSG00000079462 Pafah1b3 (MGI:108414)
chr19 42325608 42378768 19q12 19q13.2 604267 MEGF8, EGFL4, CRPT2 Multiple epidermal growth factor-like domains 8 MEGF8 1954 ENSG00000105429 Carpenter syndrome 2, 614976 (3), Autosomal recessive Megf8 (MGI:2446294)
chr19 42387018 42390317 19q13 19q13.2 611764 CNFN Cornifelin CNFN 84518 ENSG00000105427 Cnfn (MGI:1919633)
chr19 42401506 42427425 19q13.1-q13.2 19q13.2 151750 LIPE, LHS, FPLD6 Lipase E, hormone-sensitive LIPE 3991 ENSG00000079435 Lipodystrophy, familial partial, type 6, 615980 (3), Autosomal recessive Lipe (MGI:96790)
chr19 42428537 42443047 19q11 19q13.2 611387 CXCL17, VCC1, DMC Chemokine (C-X-C motif) ligand 17 CXCL17 284340 ENSG00000189377 Cxcl17 (MGI:2387642)
chr19 42507305 42528508 19q13.2 19q13.2 109770 CEACAM1, BGP Carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) CEACAM1 634 ENSG00000079385 in CEA cluster Ceacam1,Ceacam2 (MGI:1347246,MGI:1347245)
chr19 42580242 42595156 19q13.2 19q13.2 615747 CEACAM8, CD66B, CGM6 Carcinoembryonic antigen-related cell adhesion molecule 8 CEACAM8 1088 ENSG00000124469
chr19 42721641 42740515 19q13.2 19q13.2 176392 PSG3 Pregnancy-specific beta-1-glycoprotein-3 PSG3 5671 ENSG00000221826
chr19 42752686 42765691 19q13.2 19q13.2 176397 PSG8 Pregnancy-specific beta-1-glycoprotein-8 PSG8 440533 ENSG00000124467
chr19 42836996 42855717 19q13.2 19q13.2 176399 PSG10, PSG12 Pregnancy-specific beta-1-glycoprotein-10 PSG10P 653492
chr19 42866460 42879821 19q13.2 19q13.2 176390 PSG1, PSBG1, B1G1, SP1 Pregnancy-specific beta-1-glycoprotein-1 PSG1 5669 ENSG00000231924 distal to CEA
chr19 42902081 42917923 19q13.2 19q13.31 176395 PSG6 Pregnancy-specific beta-1-glycoprotein-6 PSG6 5675 ENSG00000170848
chr19 42924131 42937177 19q13.2 19q13.31 176396 PSG7 Pregnancy-specific beta-1-glycoprotein-7 PSG7 5676 ENSG00000221878
chr19 43007656 43026478 19q13.2 19q13.31 176401 PSG11, PSG13, PSG14 Pregnancy-specific beta-1-glycoprotein-11 PSG11 5680 ENSG00000243130
chr19 43064209 43082740 19q13.2 19q13.31 176391 PSG2, PSBG2 Pregnancy-specific beta-1-glycoprotein-2 PSG2 5670 ENSG00000242221
chr19 43167742 43186535 19q13.2 19q13.31 176394 PSG5 Pregnancy-specific beta-1-glycoprotein-5 PSG5 5673 ENSG00000204941
chr19 43192701 43205773 19q13.2 19q13.31 176393 PSG4 Pregnancy-specific beta-1-glycoprotein-4 PSG4 5672 ENSG00000243137
chr19 43253281 43269562 19q13.2 19q13.31 176398 PSG9, PSG11 Pregnancy-specific beta-1-glycoprotein-9 PSG9 5678 ENSG00000183668
chr19 43349055 43349547 19q13.2 19q13.31 605157 PRG1 p53-responsive gene 1 23574
chr19 43353658 43366062 19q13.2 19q13.31 162860 NB1, PRV1, CD177, HNA2A Neutrophil-specific antigen 1 CD177 57126 ENSG00000204936 Cd177 (MGI:1916141)
chr19 43388610 43418614 19q13.31 19q13.31 612665 TEX101, SGRG, TES101RP Testis-expressed gene 101 TEX101 83639 ENSG00000131126 Tex101 (MGI:1930791)
chr19 43460793 43465678 19q13.1-q13.2 19q13.31 609484 LYPD3 LY6/PLAUR domain-containing protein 3 LYPD3 27076 ENSG00000124466 Lypd3 (MGI:1919684)
chr19 43506718 43527255 19q13.32 19q13.31 608451 ETHE1, HSCO, D83198 ETHE1 gene ETHE1 23474 ENSG00000105755 Ethylmalonic encephalopathy, 602473 (3), Autosomal recessive Ethe1 (MGI:1913321)
chr19 43543311 43575577 19q13.2 19q13.31 194360 XRCC1, SCAR26 X-ray-repair, complementing defective, repair in Chinese hamster cells-1 XRCC1 7515 ENSG00000073050 mutation identified in 1 SCAR26 patient ?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3), Autosomal recessive Xrcc1 (MGI:99137)
chr19 43622367 43641983 19q13.2 19q13.31 609744 CADM4, IGSF4C, TSLL2, NECL4, SYNCAM4 Cell adhesion molecule 4 CADM4 199731 ENSG00000105767 Cadm4 (MGI:2449088)
chr19 43646094 43670345 19q13 19q13.31 173391 PLAUR, URKR Plasminogen activator, urokinase, receptor PLAUR 5329 ENSG00000011422 Plaur (MGI:97612)
chr19 43727991 43755035 19q13.31 19q13.31 613176 C19orf61, SMG9, HBMS Chromosome 19 open reading frame 61 SMG9 56006 ENSG00000105771 Heart and brain malformation syndrome, 616920 (3), Autosomal recessive Smg9 (MGI:1919247)
chr19 43766532 43782138 19q13.2 19q13.31 602754 KCNN4, KCA4, SK4, DHS2 Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 KCNN4 3783 ENSG00000104783 Dehydrated hereditary stomatocytosis 2, 616689 (3), Autosomal dominant Kcnn4 (MGI:1277957)
chr19 43912623 43935314 19q13.2 19q13.31 194554 ZNF45, ZNF13, KOX5 Zinc finger protein-45 ZNF45 7596 ENSG00000124459
chr19 43967005 43998325 19q13.2-q13.32 19q13.31 604086 ZNF155 Zinc finger protein-155 ZNF155 7711 ENSG00000204920
chr19 44025323 44033109 19q13.2 19q13.31 617357 ZNF222 Zinc finger protein 222 ZNF222 7673 ENSG00000159885
chr19 44094328 44109830 19q13.2-qter 19q13.31 194555 ZNF224, ZNF255, BMZF2, KOX22, ZNF27 Zinc finger protein-224 ZNF224 7767 ENSG00000267680
chr19 44141529 44160308 19q13.31 19q13.31 604750 ZNF234, ZNF269, HZF4 Zinc finger protein 234 ZNF234 10780 ENSG00000263002
chr19 44286347 44305706 19q13.2 19q13.31 604749 ZFP93, ANF270, HZF6 Zinc finger protein 93, mouse, homolog of ZNF235 9310 ENSG00000159917 Zfp235 (MGI:1929117)
chr19 44326552 44367214 19p13.1-p12 19q13.31 603994 ZNF112 Zinc finger protein-112 ZNF112 7771 ENSG00000062370 Zfp112 (MGI:1929115)
chr19 44474427 44500538 19q13.2 19q13.31 606740 ZNF180 Zinc finger protein-180 ZNF180 7733 ENSG00000167384 Zfp180 (MGI:1923701)
chr19 44643797 44666160 19q13.2-q13.3 19q13.31 173850 PVR, PVS Polio virus receptor PVR 5817 ENSG00000073008
chr19 44699150 44710713 19q13.31 19q13.31-q13.32 614591 CEACAM16, CEAL2, DFNA4B Carcinoembryonic antigen-related cell adhesion molecule 16 CEACAM16 388551 ENSG00000213892 Deafness, autosomal dominant 4B, 614614 (3), Autosomal dominant Ceacam16 (MGI:2685615)
chr19 44742619 44760043 19q13 19q13.32 109560 BCL3 B-cell CLL/lymphoma-3 BCL3 602 ENSG00000069399 Leukemia/lymphoma, B-cell, 3, 109560 (2) Bcl3 (MGI:88140)
chr19 44777854 44800645 19q13.2 19q13.32 608453 CBLC CAS-BR-M murine ecotropic retroviral transforming sequence C CBLC 23624 ENSG00000142273 Cblc (MGI:1931457)
chr19 44809058 44821420 19q13.2 19q13.32 612773 LU, AU, BCAM B-cell adhesion molecule BCAM 4059 ENSG00000187244 linked to SE [Blood group, Auberger system], 111200 (3); [Blood group, Lutheran null], 247420 (3), Autosomal recessive; [Blood group, Lutheran system], 111200 (3) Bcam (MGI:1929940)
chr19 44846135 44889227 19q13.2 19q13.32 600798 NECTIN2, PVRL2, HVEB, PVRR2, PRR2 Nectin 2 NECTIN2 5819 ENSG00000130202 Nectin2 (MGI:97822)
chr19 44891219 44903688 19q13.2 19q13.32 608061 TOMM40, TOM40, PEREC1 Translocase of outer mitochondrial membrane 40, yeast, homolog of TOMM40 10452 ENSG00000130204 Tomm40 (MGI:1858259)
chr19 44905748 44909394 19q13.2 19q13.32 107741 APOE, AD2, LPG, LDLCQ5 Apolipoprotein E APOE 348 ENSG00000130203 possible 2nd locus for AD2 on chr.19 Alzheimer disease-2, 104310 (3), Autosomal dominant; {Coronary artery disease, severe, susceptibility to}, 617347 (3); Hyperlipoproteinemia, type III, 617347 (3); Lipoprotein glomerulopathy, 611771 (3); {?Macular degeneration, age-related}, 603075 (3), Autosomal dominant; Sea-blue histiocyte disease, 269600 (3), Autosomal recessive Apoe (MGI:88057)
chr19 44914246 44919348 19q13.2 19q13.32 107710 APOC1 Apolipoprotein C-I APOC1 341 ENSG00000130208
chr19 44942237 44945495 19q13.2 19q13.32 600745 APOC4 Apolipoprotein C-IV APOC4 346 ENSG00000267467 555bp upstream of APOC2 Apoc4 (MGI:87878)
chr19 44945981 44949564 19q13.2 19q13.32 608083 APOC2 Apolipoprotein C-II APOC2 344 ENSG00000234906 Hyperlipoproteinemia, type Ib, 207750 (3), Autosomal recessive Apoc2 (MGI:88054)
chr19 44954584 44993345 19q13.3 19q13.32 604783 CLPTM1 Cleft lip and palate-associated transmembrane protein 1 CLPTM1 1209 ENSG00000104853 Clptm1 (MGI:1927155)
chr19 45001448 45038197 19q13.32 19q13.32 604758 RELB, IREL, IMD53 v-rel avian reticuloendotheliosis viral oncogene homolog B RELB 5971 ENSG00000104856 mutation identified in 1 IMD53 family ?Immunodeficiency 53, 617585 (3), Autosomal recessive Relb (MGI:103289)
chr19 45071499 45076587 19q13.32 19q13.32 613226 ZNF296, ZFP296, ZNF342 Zinc finger protein 296 ZNF296 162979 ENSG00000170684 Zfp296 (MGI:1926956)
chr19 45075716 45091523 19q13.32 19q13.32 607419 GEMIN7 GEM-associated protein 7 GEMIN7 79760 ENSG00000142252 Gemin7 (MGI:1916981)
chr19 45162927 45179265 19q13.32 19q13.32 610396 TRAPPC6A Trafficking protein particle complex, subunit 6A TRAPPC6A 79090 ENSG00000007255 Trappc6a (MGI:1914341)
chr19 45178744 45202714 19q13 19q13.32 609762 BLOC1S3, BLOS3, HPS8 Biogenesis of lysosome-related organelles complex 1, subunit 3 BLOC1S3 388552 ENSG00000189114 Hermansky-Pudlak syndrome 8, 614077 (3), Autosomal recessive Bloc1s3 (MGI:2678952)
chr19 45212376 45234210 19q13.32 19q13.32 616927 EXOC3L2, XTP7 Exocyst complex component 3-like 2 EXOC3L2 90332 ENSG00000283632 Exoc3l2 (MGI:1921713)
chr19 45251257 45305282 19q13.2 19q13.32 606495 MARK4, KIAA1860, MARKL1 Map/microtubule affinity-regulating kinase-4 MARK4 57787 ENSG00000007047 Mark4 (MGI:1920955)
chr19 45306412 45322976 19q13 19q13.32 123310 CKM, CKMM Creatine kinase, muscle type CKM 1158 ENSG00000104879 Ckm (MGI:88413)
chr19 45340739 45351547 19q13.2-q13.3 19q13.32 601334 KLC3, KLC2L Kinesin, light chain, 3 KLC3 147700 ENSG00000104892 Klc3 (MGI:1277971)
chr19 45349836 45370646 19q13.2-q13.3 19q13.32 126340 ERCC2, EM9, XPD, COFS2, TTD1 Excision repair cross complementing rodent repair deficiency, complementation group-2 ERCC2 2068 ENSG00000104884 < 250kb from ERCC1; mutation identified in 1 COFS2 patient ?Cerebrooculofacioskeletal syndrome 2, 610756 (3), Autosomal recessive; Trichothiodystrophy 1, photosensitive, 601675 (3), Autosomal recessive; Xeroderma pigmentosum, group D, 278730 (3), Autosomal recessive Ercc2 (MGI:95413)
chr19 45379633 45406348 19q13.32 19q13.32 607463 PPP1R13L, RAI, IASPP, NKIP1 Protein phosphatase 1, regulatory subunit 13-like PPP1R13L 10848 ENSG00000104881 Ppp1r13l (MGI:3525053)
chr19 45406208 45410765 19q13.2-q13.3 19q13.32 107325 CD3EAP, ASE1, PAF49 CD3-epsilon-associated protein CD3EAP 10849 ENSG00000117877 Cd3eap (MGI:1917583)
chr19 45407332 45478865 19q13.2-q13.3 19q13.32 126380 ERCC1, UV20, COFS4 Excision repair cross complementing rodent repair deficiency, complementation group-1 ERCC1 2067 ENSG00000012061 distal to CKM Cerebrooculofacioskeletal syndrome 4, 610758 (3), Autosomal recessive Ercc1 (MGI:95412)
chr19 45467994 45475178 19q13.3 19q13.32 164772 FOSB Oncogene FOS-B FOSB 2354 ENSG00000125740 Fosb (MGI:95575)
chr19 45485287 45497054 19q13.3 19q13.32 603183 RTN2, NSPL1, SPG12 Reticulon-2 RTN2 6253 ENSG00000125744 Spastic paraplegia 12, autosomal dominant, 604805 (3), Autosomal dominant Rtn2 (MGI:107612)
chr19 45507429 45526988 19q13.2-q13.3 19q13.32 601703 VASP Vasodilator-stimulated phosphoprotein VASP 7408 ENSG00000125753 Vasp (MGI:109268)
chr19 45527766 45584863 19q13.2-q13.3 19q13.32 606580 OPA3, MGA3 OPA3 gene OPA3 80207 ENSG00000125741 3-methylglutaconic aciduria, type III, 258501 (3), Autosomal recessive; Optic atrophy 3 with cataract, 165300 (3), Autosomal dominant Opa3 (MGI:2686271)
chr19 45589763 45602207 19q13.2-q13.3 19q13.32 600551 GPR4 G protein-coupled receptor-4 GPR4 2828 ENSG00000177464 Gpr4 (MGI:2441992)
chr19 45609395 45645628 19q13.32 19q13.32 617494 EML2, EMAP2, ELP70 Echinoderm microtubule-associated protein-like 2 EML2 24139 ENSG00000125746 Eml2 (MGI:1919455)
chr19 45668186 45683723 19q13.3 19q13.32 137241 GIPR, PGQTL2 Gastric inhibitory polypeptide receptor GIPR 2696 ENSG00000010310 [Plasma glucose, 2-hour, QTL 2], 137241 (2) Gipr (MGI:1352753)
chr19 45687453 45692315 19q13.32 19q13.32 601061 SNRPD2 Small nuclear ribonucleoprotein polypeptide D2 SNRPD2 6633 ENSG00000125743 Snrpd2 (MGI:98345)
chr19 45710628 45733170 19q13.3 19q13.32 609117 FBXO46, FBX46 F-box only protein 46 FBXO46 23403 ENSG00000177051 Fbxo46 (MGI:2444918)
chr19 45764784 45769238 19q13.3 19q13.32 600963 SIX5, DMAHP, BOR2 Sine oculis homeo box, Drosophila, homolog of, 5 SIX5 147912 ENSG00000177045 Branchiootorenal syndrome 2, 610896 (3) Six5 (MGI:106220)
chr19 45769708 45782556 19q13.2-q13.3 19q13.32 605377 DMPK, DM, DMK Dystrophia myotonica-protein kinase DMPK 1760 ENSG00000104936 distal to APOLP2; distal to CKM Myotonic dystrophy 1, 160900 (3), Autosomal dominant Dmpk (MGI:94906)
chr19 45783005 45792801 19q13.3 19q13.32 609857 DMWD, DMRN9 Dystrophia myotonica WD repeat-containing protein DMWD 1762 ENSG00000185800 Dmwd (MGI:94907)
chr19 45795709 45815346 19q13.3 19q13.32 607548 RSHL1 Radial spokehead-like 1 RSPH6A 81492 ENSG00000104941 Rsph6a (MGI:1927643)
chr19 45815441 45863289 19q13.3 19q13.32 602388 SPK Symplekin SYMPK 8189 ENSG00000125755 Sympk (MGI:1915438)
chr19 45864259 45873796 19q13.2-q13.4 19q13.32 602295 FOXA3, HNF3G Forkhead box A3 (hepatocyte nuclear factor-3, gamma) FOXA3 3171 ENSG00000170608 Foxa3 (MGI:1347477)
chr19 45883606 45886169 19q13.32 19q13.32 615331 IRF2BP1 Interferon regulatory factor 2-binding protein 1 IRF2BP1 26145 ENSG00000170604 Irf2bp1 (MGI:2442159)
chr19 45890019 45902618 19q13.32 19q13.32 617861 MYPOP MYB-related transcription factor, partner of profilin MYPOP 339344 ENSG00000176182 Mypop (MGI:2446472)
chr19 45913213 45914777 19q13.32 19q13.32 608228 NANOS2, NOS2 Nanos, Drosophila, homolog of, 2 NANOS2 339345 ENSG00000188425 Nanos2 (MGI:2676627)
chr19 45933733 45973398 19q13.3 19q13.32 601991 NOVA2, ANOVA NOVA alternative splicing regulator 2 NOVA2 4858 ENSG00000104967 Nova2 (MGI:104296)
chr19 46019152 46023297 19q13 19q13.32 604963 PGRP, PGRPS Peptidoglycan recognition protein PGLYRP1 8993 ENSG00000008438 Pglyrp1 (MGI:1345092)
chr19 46039747 46041015 19p13.3 19q13.32 610547 IGFL4 IGF-like family member 4 IGFL4 444882 ENSG00000204869
chr19 46078512 46215361 19p13.3 19q13.32 610545 IGFL2 IGF-like family member 2 IGFL2 147920 ENSG00000204866
chr19 46119777 46127100 19p13.3 19q13.32 610546 IGFL3 IGF-like family member 3 IGFL3 388555 ENSG00000188624 Igfl3 (MGI:2685426)
chr19 46229751 46231242 19p13.3 19q13.32 610544 IGFL1 IGF-like family member 1 IGFL1 374918 ENSG00000188293
chr19 46297045 46343432 19q13.2 19q13.32 609976 HIF3A, IPAS Hypoxia-inducible factor 3, alpha subunit HIF3A 64344 ENSG00000124440 Hif3a (MGI:1859778)
chr19 46346993 46390974 19q13.3 19q13.32 600658 PPP5C, PP5 Protein phosphatase-5, catalytic subunit PPP5C 5536 ENSG00000011485 Ppp5c (MGI:102666)
chr19 46410328 46413661 19q13.2-q13.32 19q13.32 614145 CCDC8, 3M3 Coiled-coil domain-containing protein 8 CCDC8 83987 ENSG00000169515 3-M syndrome 3, 614205 (3), Autosomal recessive Ccdc8 (MGI:3612184)
chr19 46601073 46610781 19q13.2-q13.3 19q13.32 114183 CALM3 Calmodulin-3 CALM3 808 ENSG00000160014
chr19 46610039 46625096 19q13.3 19q13.32 600022 PTGIR Prostaglandin I2 (prostacyclin) receptor (IP) PTGIR 5739 ENSG00000160013 Ptgir (MGI:99535)
chr19 46647563 46661137 19q13.3 19q13.32 611112 DACT3 Dapper, antagonist of beta-catenin, 3 DACT3 147906 ENSG00000197380 Dact3 (MGI:3654828)
chr19 46674315 46717126 19q13.3 19q13.32 607074 PRKD2, PKD2 Protein kinase D2 PRKD2 25865 ENSG00000105287 Prkd2 (MGI:2141917)
chr19 46719508 46746474 19q13.32 19q13.32 614767 STRN4, ZIN Striatin, calmodulin-binding protein 4 STRN4 29888 ENSG00000090372 Strn4 (MGI:2142346)
chr19 46746014 46758574 19q13.3 19q13.32 606596 FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5 Fukutin-related protein FKRP 79147 ENSG00000181027 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3), Autosomal recessive Fkrp (MGI:2447586)
chr19 46759684 46788621 19q13.3 19q13.32 109190 SLC1A5, RDRC, M7V1, M7VS1 Solute carrier family 1 (neutral amino acid transporter), member 5 (receptor for RD114/simian type D retroviruses) SLC1A5 6510 ENSG00000105281 Slc1a5 (MGI:105305)
chr19 46838157 46850994 19q13.2-q13.3 19q13.32 602242 AP2S1, CLAPS2, AP17, HHC3 Adaptor-related protein complex 2, sigma 1 subunit AP2S1 1175 ENSG00000042753 Hypocalciuric hypercalcemia, type III, 600740 (3), Autosomal dominant Ap2s1 (MGI:2141861)
chr19 46918566 47005076 19q13.2-q13.4 19q13.32 605277 GRLF1, P190A Glucocorticoid receptor DNA-binding factor 1 ARHGAP35 2909 ENSG00000160007 Arhgap35 (MGI:1929494)
chr19 47019843 47045774 19q13.2-q13.3 19q13.32 603346 NPAS1, MOP5 Neuronal PAS domain protein 1 NPAS1 4861 ENSG00000130751 Npas1 (MGI:109205)
chr19 47130793 47210635 19q13.32 19q13.32 613294 SAE1, SUA1, AOS1 SUMO1-activating enzyme, subunit 1 SAE1 10055 ENSG00000142230 Sae1 (MGI:1929264)
chr19 47220821 47232997 19q 19q13.32 605854 PUMA p53-upregulated modulator of apoptosis BBC3 27113 ENSG00000105327 Bbc3 (MGI:2181667)
chr19 47309846 47322069 19q13.3-q13.4 19q13.32 113995 C5AR1, C5R1, C5AR Complement component 5a receptor 1 C5AR1 728 ENSG00000197405 C5ar1 (MGI:88232)
chr19 47331613 47342079 19q13.4 19q13.32 609949 C5AR2, GPF77, C5L2 Complement component 5a receptor 2 C5AR2 27202 ENSG00000134830 C5ar2 (MGI:2442013)
chr19 47349280 47382703 19q13.32 19q13.32 615475 DHX34, KIAA0134 DEAH box polypeptide 34 DHX34 9704 ENSG00000134815 Dhx34 (MGI:1918973)
chr19 47428016 47472049 19q13.32 19q13.32 601901 SLC8A2, NCX2 Solute carrier family 8, member 2 (sodium-calcium exchanger 2) SLC8A2 6543 ENSG00000118160 Slc8a2 (MGI:107996)
chr19 47475140 47486791 19q13.4 19q13.32 615620 KPTN, 2E4, MRT41 Kaptin KPTN 11133 ENSG00000118162 Mental retardation, autosomal recessive 41, 615637 (3), Autosomal recessive Kptn (MGI:1890380)
chr19 47487633 47515257 19q13.3 19q13.32-q13.33 603215 NAPA, SNAPA N-ethylmaleimide-sensitive factor attachment protein, alpha NAPA 8775 ENSG00000105402 Napa (MGI:104563)
chr19 47608195 47703276 19q13.3 19q13.33 605690 GLTSCR1 Glioma tumor suppressor candidate region gene 1 BICRA 29998 ENSG00000063169 Bicra (MGI:2154263)
chr19 47713343 47743133 19q13.3 19q13.33 605890 EHD2 EH domain-containing 2 EHD2 30846 ENSG00000024422 Ehd2 (MGI:2154274)
chr19 47745535 47757065 19q13.3 19q13.33 605691 GLTSCR2 Glioma tumor suppressor candidate region gene 2 NOP53 29997 ENSG00000105373 Nop53 (MGI:2154441)
chr19 47778571 47784680 19q13.3 19q13.33 603235 SELENOW, SEPW1 Selenoprotein W SELENOW 6415 ENSG00000178980 Selenow (MGI:1100878)
chr19 47801242 47803603 19q13.32 19q13.33 611166 TPRX1 Tetrapeptide repeat homeobox 1 TPRX1 284355 ENSG00000178928
chr19 47821839 47843329 19q13.3 19q13.33 602225 CRX, CORD2, CRD, LCA7 Cone-rod homeo box-containing gene CRX 1406 ENSG00000105392 Cone-rod retinal dystrophy-2, 120970 (3), Autosomal dominant; Leber congenital amaurosis 7, 613829 (3) Crx (MGI:1194883)
chr19 47870465 47886396 19q13.3 19q13.33 125263 SULT2A1, STD Sulfotransferase family 2A, dehydroepiandrosterone-preferring, member 1 (DHEA sulfotransferase) SULT2A1 6822 ENSG00000105398 Sult2a4,Sult2a3,Sult2a1,Sult2a6,Sult2a5 (MGI:98430,MGI:3645854,MGI:3648915,MGI:3648378,MGI:3645873)
chr19 47967257 47992169 19q13.32 19q13.33 612213 BSPH1 Bovine seminal plasma protein-like 1 BSPH1 100131137 ENSG00000188334 Bsph1 (MGI:2685613)
chr19 47994650 48025152 19q13.33 19q13.33 607443 ELSPBP1 Epididymal sperm binding protein 1 ELSPBP1 64100 ENSG00000169393
chr19 48029382 48048341 19q13.33 19q13.33 607315 CABP5, CABP3 Calcium-binding protein 5 CABP5 56344 ENSG00000105507 Cabp5 (MGI:1352746)
chr19 48047842 48111382 19q13.3 19q13.33 603602 PLA2G4C Phospholipase A2, group IVC PLA2G4C 8605 ENSG00000105499 Pla2g4c (MGI:1196403)
chr19 48115444 48170602 19q13.2-q13.3 19q13.33 126391 LIG1 Ligase I, DNA, ATP-dependent LIG1 3978 ENSG00000105486 DNA ligase I deficiency (3) Lig1 (MGI:101789)
chr19 48203147 48256263 19q13.3 19q13.33 609051 CARD8, TUCAN, KIAA0955, NDPP1 Caspase recruitment domain-containing protein 8 CARD8 22900 ENSG00000105483
chr19 48270098 48287607 19q13.33 19q13.33 603996 ZNF114 Zinc finger protein-114 ZNF114 163071 ENSG00000178150
chr19 48296451 48322792 19q13.3 19q13.33 615038 CCDC114, CILD20 Coiled-coil domain-containing protein 114 CCDC114 93233 ENSG00000105479 Ciliary dyskinesia, primary, 20, 615067 (3), Autosomal recessive Ccdc114 (MGI:2446120)
chr19 48325371 48330553 19q13.3 19q13.33 602335 EMP3 Epithelial membrane protein 3 EMP3 2014 ENSG00000142227 Emp3 (MGI:1098729)
chr19 48364266 48376376 19q13.3 19q13.33 608373 SYNGR4 Synaptogyrin 4 SYNGR4 23546 ENSG00000105467 Syngr4 (MGI:1928903)
chr19 48382569 48391552 19q13.33 19q13.33 131235 KDELR1, ERD2, HDEL KDEL endoplasmic reticulum protein retention receptor 1 KDELR1 10945 ENSG00000105438 Kdelr1 (MGI:1915387)
chr19 48394874 48444936 19q13.1-qter 19q13.33 602717 GRIN2D, NMDAR2D, EIEE46 Glutamate receptor, ionotropic, N-methyl-D-aspartate 2D GRIN2D 2906 ENSG00000105464 Epileptic encephalopathy, early infantile, 46, 617162 (3), Autosomal dominant Grin2d (MGI:95823)
chr19 48445772 48453906 19q13.3 19q13.33 610597 GRWD1, GRWD, KIAA1942 Glutamate-rich WD repeat-containing protein 1 GRWD1 83743 ENSG00000105447 Grwd1 (MGI:2141989)
chr19 48469207 48482313 19q13 19q13.33 602488 CYTH2, PSCD2, ARNO, PSCD2L Cytohesin 2 CYTH2 9266 ENSG00000105443 Cyth2 (MGI:1334255)
chr19 48552171 48599426 19q13.3 19q13.33 604125 SULT2B1, ARCI14 Sulfotransferase family 2B, member 1 SULT2B1 6820 ENSG00000088002 Ichthyosis, congenital, autosomal recessive 14, 617571 (3), Autosomal recessive Sult2b1 (MGI:1926342)
chr19 48606742 48607713 19q13.33 19q13.33 609932 SPACA4, SAMP14 Sperm acrosome-associated protein 4 SPACA4 171169 ENSG00000177202 Spaca4 (MGI:1916613)
chr19 48615326 48619417 19q 19q13.33 604179 RPL18 Ribosomal protein L18 RPL18 6141 ENSG00000063177 Rpl18 (MGI:98003)
chr19 48619290 48630406 19q13.2 19q13.33 607092 SPHK2 Sphingosine kinase 2 SPHK2 56848 ENSG00000063176 Sphk2 (MGI:1861380)
chr19 48630559 48637549 19q13.3 19q13.33 124097 DBP D site of albumin promoter binding protein DBP 1628 ENSG00000105516 Dbp (MGI:94866)
chr19 48637941 48646311 19q13.2-q13.3 19q13.33 604644 CA11, CARP2 Carbonic anhydrase XI CA11 770 ENSG00000063180 Car11 (MGI:1336193)
chr19 48695970 48705933 19q13.3 19q13.33 182100 FUT2, SE, B12QTL1 Fucosyltransferase-2 (secretor) FUT2 2524 ENSG00000176920 H, SE = alpha-L-fucosyltransferases; from common ancestral genes; tightly linked to FUT1 [Bombay phenotype] (3); {Norwalk virus infection, resistance to} (3); {Vitamin B12 plasma level QTL1}, 612542 (3) Fut2 (MGI:109374)
chr19 48712440 48719897 19q13.33 19q13.33 610349 MAMSTR, MASTR MEF2-activating SAP transcriptional regulator MAMSTR 284358 ENSG00000176909 Mamstr (MGI:1921740)
chr19 48720584 48740832 19q13.33 19q13.33 609623 RASIP1, RAIN Ras-interacting protein 1 RASIP1 54922 ENSG00000105538 Rasip1 (MGI:1917153)
chr19 48740887 48746908 19q13.33 19q13.33 609278 IZUMO1, MGC34799 Izumo sperm-egg fusion protein 1 IZUMO1 284359 ENSG00000182264 Izumo1 (MGI:1920706)
chr19 48748010 48755389 19q13.3 19q13.33 211100 FUT1, H, HH Fucosyltransferase-1 (Bombay phenotype) FUT1 2523 ENSG00000174951 SE tightly linked [Bombay phenotype], 616754 (3), Autosomal recessive Fut1 (MGI:109375)
chr19 48755558 48758329 19q13 19q13.33 609436 FGF21 Fibroblast growth factor 21 FGF21 26291 ENSG00000105550 Fgf21 (MGI:1861377)
chr19 48795061 48811062 19q13 19q13.33 113530 BCAT2, BCT2 Branched chain aminotransferase-2, mitochondrial BCAT2 587 ENSG00000105552 ?Hypervalinemia or hyperleucine-isoleucinemia (1) Bcat2 (MGI:1276534)
chr19 48813013 48836687 19q13.33 19q13.33 612832 HSD17B14, DHRS10, RETSDR3 17-beta-hydroxysteroid dehydrogenase XIV HSD17B14 51171 ENSG00000087076 Hsd17b14 (MGI:1913315)
chr19 48837091 48868626 19q13.33 19q13.33 607769 PLEKHA4, PEPP1 Pleckstrin homology domain-containing protein, family A, member 4 PLEKHA4 57664 ENSG00000105559 Plekha4 (MGI:1916467)
chr19 48872391 48876061 19q13.2 19q13.33 611048 PPP1R15A, GADD34 Protein phosphatase 1, regulatory subunit 15A PPP1R15A 23645 ENSG00000087074 Ppp1r15a (MGI:1927072)
chr19 48880816 48900220 19q13.1 19q13.33 602309 TULP2 Tubby-like protein-2 TULP2 7288 ENSG00000104804 Tulp2 (MGI:1861600)
chr19 48900049 48923282 19q13.2-q13.4 19q13.33 601323 NUCB1 Nucleobindin 1 NUCB1 4924 ENSG00000104805 Nucb1 (MGI:97388)
chr19 48954824 48961797 19q13.3-q13.4 19q13.33 600040 BAX BCL2-associated X protein BAX 581 ENSG00000087088 Colorectal cancer, somatic, 114500 (3); T-cell acute lymphoblastic leukemia, somatic, 613065 (3) Bax (MGI:99702)
chr19 48963940 48966878 19q13.3-q13.4 19q13.33 134790 FTL, NBIA3, LFTD Ferritin, light chain FTL 2512 ENSG00000087086 Hyperferritinemia-cataract syndrome, 600886 (3), Autosomal dominant; L-ferritin deficiency, dominant and recessive, 615604 (3), Autosomal recessive, Autosomal dominant; Neurodegeneration with brain iron accumulation 3, 606159 (3), Autosomal dominant Ftl1,Ftl1-ps2 (MGI:5434102,MGI:95589)
chr19 48968124 48993352 19q13.3 19q13.33 138570 GYS1, GYS Glycogen synthase GYS1 2997 ENSG00000104812 Glycogen storage disease 0, muscle, 611556 (3), Autosomal recessive Gys1 (MGI:101805)
chr19 48993447 49015994 19q13.3 19q13.33 604788 RUVBL2, TIP48, ECP51 RUVB, E. coli, homolog-like 2 (TATA box-binding protein-interacting protein) RUVBL2 10856 ENSG00000183207 Ruvbl2 (MGI:1342299)
chr19 49015979 49017089 19q13.32 19q13.33 152780 LHB, HH23 Luteinizing hormone, beta polypeptide LHB 3972 ENSG00000104826 beta chains of FSH, TSH on 11p, 1p, respectively Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3), Autosomal recessive Lhb (MGI:96782)
chr19 49022868 49024374 19q13.32 19q13.33 118860 CGB Chorionic gonadotropin, beta polypeptide CGB3 1082 ENSG00000104827 at least 5 genes
chr19 49035568 49036933 19q13.33 19q13.33 608823 CGB1 Chorionic gonadotropin, beta polypeptide 1 CGB1 114335 ENSG00000267631
chr19 49054273 49057247 19q13.33 19q13.33 608826 CGB7, CGB6 Chorionic gonadotropin, beta polypeptide 7 CGB7 94027 ENSG00000196337
chr19 49058283 49065075 19q13.3 19q13.33 162662 NTF4 , NTF5, NT5, NT4, GLC1O Neurotrophin-4 (neurotrophin-4/5) NTF4 4909 ENSG00000225950 3 genes, ? functional, also on 19 Glaucoma 1, open angle, 1O, 613100 (3) Ntf5 (MGI:97381)
chr19 49067417 49072940 19q13.3 19q13.33 176268 KCNA7 Potassium voltage-gated channel, shaker-related subfamily, member 7 KCNA7 3743 ENSG00000104848 Kcna7 (MGI:96664)
chr19 49085139 49108612 19q13.3 19q13.33 180740 SNRP70, U1RNP, RNPU1Z, RPU1 Small nuclear ribonucleoprotein, U1 subunit, 70kD SNRNP70 6625 ENSG00000104852 Snrnp70 (MGI:98341)
chr19 49114338 49118463 19q13.33 19q13.33 612331 LIN7B, VELI2, MALS2 Lin7, C. elegans, homolog of, B LIN7B 64130 ENSG00000104863 Lin7b (MGI:1330858)
chr19 49119388 49151029 19q13.33 19q13.33 603144 PPFIA3, LPNA3 Protein tyrosine phosphatase, receptor type, f polypeptide (liprin-alpha-3) PPFIA3 8541 ENSG00000177380 Ppfia3 (MGI:1924037)
chr19 49151197 49155463 19q13.3 19q13.33 142705 HRC Histidine-rich calcium-binding protein HRC 3270 ENSG00000130528
chr19 49157740 49211840 19q13.32 19q13.33 606936 TRPM4, PFHB1B Transient receptor potential cation channel, subfamily M, member 4 TRPM4 54795 ENSG00000130529 Progressive familial heart block, type IB, 604559 (3), Autosomal dominant Trpm4 (MGI:1915917)
chr19 49289631 49332319 19q13.33 19q13.33 607972 SLC6A16, NT5 Solute carrier family 6 (neurotransmitter transporter), member 16 SLC6A16 28968 ENSG00000063127 Slc6a16 (MGI:2685930)
chr19 49334960 49340607 19p13-q13.4 19q13.33 151523 CD37 Leukocyte surface antigen CD37 CD37 951 ENSG00000104894 Cd37 (MGI:88330)
chr19 49340594 49362456 19q13.3 19q13.33 601729 TEAD2, TEF4 TEA domain family member 2 TEAD2 8463 ENSG00000074219 Tead2 (MGI:104904)
chr19 49360519 49375131 19q13.33 19q13.33 605418 DKKL1, SGY1, SGY Dickkopf-like 1 DKKL1 27120 ENSG00000104901 Dkkl1 (MGI:1354963)
chr19 49422413 49423440 19q13.33 19q13.33 608386 PTH2, TIP39 Parathyroid hormone 2 PTH2 113091 ENSG00000142538 Pth2 (MGI:2152297)
chr19 49429397 49441550 19q13 19q13.33 605208 SLC17A7, BNPI, VGLUT1 Solute carrier family 17, (sodium-dependent inorganic phosphate cotransporter), member 7 SLC17A7 57030 ENSG00000104888 Slc17a7 (MGI:1920211)
chr19 49446292 49452391 19q13.33 19q13.33 611480 PIH1D1, NOP17 PIH1 domain-containing protein 1 PIH1D1 55011 ENSG00000104872 Pih1d1 (MGI:1916095)
chr19 49453215 49471049 19q13.33 19q13.33 613358 ALDH16A1 Aldehyde dehydrogenase 16 family, member A1 ALDH16A1 126133 ENSG00000161618 Aldh16a1 (MGI:1916998)
chr19 49474171 49487036 19q13.33 19q13.33 600007 FLT3LG, FLG3L FMS-related tyrosine kinase 3 ligand FLT3LG 2323 ENSG00000090554 Flt3l (MGI:95560)
chr19 49496364 49499711 19q 19q13.33 180471 RPS11 Ribosomal protein S11 RPS11 6205 ENSG00000142534 Rps11 (MGI:1351329)
chr19 49500784 49500867 19q13.33 19q13.33 611114 MIR150, MIRN150 Micro RNA 150 MIR150 406942
chr19 49512278 49526427 19q13.3 19q13.33 601437 FCGRT Fc fragment of IgG, receptor, transporter, alpha FCGRT 2217 ENSG00000104870 Fcgrt (MGI:103017)
chr19 49555467 49580571 19q13.33 19q13.33 616759 NOSIP Nitric oxide synthase-interacting protein NOSIP 51070 ENSG00000142546 Nosip (MGI:1913644)
chr19 49580616 49591007 19q13.33 19q13.33 604429 PRRG2, PRGP2 Proline-rich gamma-carboxyglutamic acid protein 2 PRRG2 5639 ENSG00000126460 Prrg2 (MGI:1929596)
chr19 49591176 49626438 19q13.33 19q13.33 616633 PRR12, KIAA1205 Proline-rich protein 12 PRR12 57479 ENSG00000126464 Prr12 (MGI:2679002)
chr19 49635291 49640142 19q13.3-qter 19q13.33 165090 RRAS Oncogene RRAS RRAS 6237 ENSG00000126458 Rras (MGI:98179)
chr19 49640480 49658648 19q13.3 19q13.33 617264 SCAF1 SR-related C-terminal domain-associated factor 1 SCAF1 58506 ENSG00000126461
chr19 49659568 49665874 19q13.3-q13.4 19q13.33 603734 IRF3, IIAE7 Interferon regulatory factor 3 IRF3 3661 ENSG00000126456 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3), Autosomal dominant Irf3 (MGI:1859179)
chr19 49664833 49673915 19q13.3 19q13.33 610837 BCL2L12 BCL2-like 12 BCL2L12 83596 ENSG00000126453 Bcl2l12 (MGI:1922986)
chr19 49676165 49688449 19q13 19q13.33 602950 PRMT1, HRMT1L2, IR1B4 Protein arginine methyltransferase 1 PRMT1 3276 ENSG00000126457 Prmt1 (MGI:107846)
chr19 49690671 49713730 19q13.33 19q13.33 608846 CPT1C, SPG73 Carnitine palmitoyltransferase IC CPT1C 126129 ENSG00000169169 mutation identified in 1 SPG73 family ?Spastic paraplegia 73, autosomal dominant, 616282 (3), Autosomal dominant Cpt1c (MGI:2446526)
chr19 49766922 49807113 19q13.3 19q13.33 601026 AP2A1, CLAPA1, ADTAA Adaptor-related protein complex 2, alpha 1 subunit AP2A1 160 ENSG00000196961 match to PAC AC006942 Ap2a1 (MGI:101921)
chr19 49806865 49817375 19q13 19q13.33 610622 FUZ, NTD Fuzzy, Drosophila, homolog of FUZ 80199 ENSG00000010361 Neural tube defects, 182940 (3), Autosomal dominant Fuz (MGI:1917550)
chr19 49818278 49840383 19q13.3 19q13.33 610197 MED25, PTOV2, ARC92, CMT2B2, BVSYS Mediator of RNA polymerase II transcription, subunit 25, S. cerevisiae, homolog of MED25 81857 ENSG00000104973 mutation identified in 1 CMT2B2 family Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, type 2B2, 605589 (3), Autosomal recessive Med25 (MGI:1922863)
chr19 49848553 49860743 19q13.3-q13.4 19q13.33 610195 PTOV1, ACID2 Prostate tumor overexpressed gene 1 PTOV1 53635 ENSG00000104960 Ptov1 (MGI:1933946)
chr19 49861202 49867564 19q13.4 19q13.33 605610 PNKP, PNK, MCSZ, EIEE10, AOA4 Polynucleotide kinase 3' phosphatase PNKP 11284 ENSG00000039650 Ataxia-oculomotor apraxia 4, 616267 (3), Autosomal recessive; Microcephaly, seizures, and developmental delay, 613402 (3), Autosomal recessive Pnkp (MGI:1891698)
chr19 49877424 49888749 19q13.33 19q13.33 616659 TBC1D17 TBC1 domain family, member 17 TBC1D17 79735 ENSG00000104946 Tbc1d17 (MGI:2449973)
chr19 49889653 49929538 19q13.3-q13.4 19q13.33 609742 IL4I1, FIG1 Interleukin 4-induced gene 1 IL4I1 259307 ENSG00000104951 Gm21948,Il4i1 (MGI:5439399,MGI:109552)
chr19 49906824 49929730 19q13.33 19q13.33 605815 NUP62, SNDI, IBSN Nucleoporin, 62-kD NUP62 23636 ENSG00000213024 Striatonigral degeneration, infantile, 271930 (3), Autosomal recessive Nup62 (MGI:1351500)
chr19 49928701 49933935 19q13.3 19q13.33 606398 ATF5, ATFX Activating transcription factor 5 ATF5 22809 ENSG00000169136 Atf5 (MGI:2141857)
chr19 49948824 49961171 19q13.3-q13.4 19q13.33 607157 SIGLEC11 Sialic acid-binding immunoglobulin-like lectin 11 SIGLEC11 114132 ENSG00000161640 pseudogene 8kb upstream
chr19 50025892 50048775 19q13.33 19q13.33 617908 ZNF473, ZFP100, KIAA1141 Zinc finger protein 473 ZNF473 25888 ENSG00000142528 Zfp473 (MGI:2442697)
chr19 50188185 50310543 19q13.33 19q13.33 608568 MYH14, KIAA2034, DFNA4A, PNMHH Myosin, heavy chain 14, nonmuscle MYH14 79784 ENSG00000105357 mutation identified in 1 PNMHH family Deafness, autosomal dominant 4A, 600652 (3), Autosomal dominant; ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3), Autosomal dominant Myh14 (MGI:1919210)
chr19 50311941 50333514 19q13.3-q13.4 19q13.33 176264 KCNC3, SCA13 Potassium voltage-gated channel, Shaw-related subfamily, member 3 KCNC3 3748 ENSG00000131398 Spinocerebellar ataxia 13, 605259 (3), Autosomal dominant Kcnc3 (MGI:96669)
chr19 50358471 50369330 19q13.33 19q13.33 605631 NAPA, NAP1, SNAPA Napsin A NAPSA 9476 ENSG00000131400 Napsa (MGI:109365)
chr19 50376422 50383027 19q13.3 19q13.33 600380 NR1H2, UNR Nuclear receptor subfamily 1, group H, member 2 (ubiquitously-expressed nuclear receptor) NR1H2 7376 ENSG00000131408 Nr1h2 (MGI:1352463)
chr19 50384290 50418017 19q13.3-q13.4 19q13.33 174761 POLD1, CRCS10, MDPL Polymerase (DNA directed), delta 1, catalytic subunit POLD1 5424 ENSG00000062822 {Colorectal cancer, susceptibility to, 10}, 612591 (3), Autosomal dominant; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3), Autosomal dominant Pold1 (MGI:97741)
chr19 50418937 50431052 19q13.3-q13.4 19q13.33 606802 SPIB SPIB transcription factor SPIB 6689 ENSG00000269404 Spib (MGI:892986)
chr19 50432902 50466325 19q13.33 19q13.33 160793 MYBPC2, MYBPCF Myosin-binding protein C, fast type MYBPC2 4606 ENSG00000086967 Mybpc2 (MGI:1336170)
chr19 50476476 50505904 19q13.33 19q13.33 614545 EMC10, C19orf63, HSS1, HSM1 ER membrane protein complex subunit 10 EMC10 284361 ENSG00000161671 Emc10 (MGI:1916933)
chr19 50505996 50511354 19q13.33 19q13.33 615324 JOSD2 Josephin domain-containing protein 2 JOSD2 126119 ENSG00000161677 Josd2 (MGI:1913374)
chr19 50621976 50658113 19q 19q13.33 600327 SYT3 Synaptotagmin-3 SYT3 84258 ENSG00000213023 Syt3 (MGI:99665)
chr19 50659256 50719782 19q13.33 19q13.33 604999 SHANK1, SSTRIP SH3 and multiple ankyrin repeat domains 1 SHANK1 50944 ENSG00000161681 Shank1 (MGI:3613677)
chr19 50723347 50725723 19q13.3 19q13.33 604713 CLEC11A, SCGF, LSLCL C-type lectin domain family 11, member A CLEC11A 6320 ENSG00000105472 Clec11a (MGI:1298219)
chr19 50770463 50771731 19q13.3 19q13.33 603195 GPR32 G protein-coupled receptor-32 GPR32 2854 ENSG00000142511
chr19 50790414 50795223 19q13 19q13.33 606362 ACPT, AI1J Acid phosphatase, testicular ACP4 93650 ENSG00000142513 Amelogenesis imperfecta, type IJ, 617297 (3), Autosomal recessive Acp4 (MGI:3644563)
chr19 50819145 50823786 19q13.4 19q13.33 147910 KLK1, KLKR Kallikrein 1 KLK1 3816 ENSG00000167748 ~10cM distal to APOC2 [Kallikrein, decreased urinary activity of], 615953 (3)
chr19 50825288 50834336 19q13.4 19q13.33 610601 KLK15 Kallikrein-related peptidase 15 KLK15 55554 ENSG00000174562 Klk15 (MGI:2447533)
chr19 50854914 50860763 19q13.4 19q13.33 176820 KLK3, APS, PSA Kallikrein-related peptidase 3 KLK3 354 ENSG00000142515 probably with cluster KLK1, KLK2 Klk1b21,Klk1b9,Klk1b11,Klk1b22,Klk1b8,Klk1,Klk1b5,Klk1b26,Klk1b3,Klk1b24,Klk1b4,Klk1b1,Klk1b16,Klk1b27 (MGI:102850,MGI:95293,MGI:95291,MGI:892019,MGI:892018,MGI:97320,MGI:97322,MGI:892023,MGI:892022,MGI:892021,MGI:892020,MGI:891982,MGI:891980,MGI:891981)
chr19 50873432 50880566 19q13.4 19q13.33 147960 KLK2 Kallikrein-related peptidase 2 KLK2 3817 ENSG00000167751 12kb from APS
chr19 50900000 58617616 19q13.4-qter 102699 AAVS1 Adeno-associated virus integration site-1 AAVS1 17
chr19 50900000 58617616 19q13.4 611959 HPC15 Prostate cancer, hereditary, 15 100188868 associated with rs2735839 {Prostate cancer, hereditary, 15}, 611959 (2)
chr19 50900000 58617616 19q13.4 604937 KIR2DL2, NKAT6 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 KIR2DL2 3803
chr19 50900000 58617616 19q13.4 615727 KIR2DL5B Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B KIR2DL5B 553128
chr19 50900000 58617616 19q13.4 604952 KIR2DS1 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 KIR2DS1 3806
chr19 50900000 58617616 19q13.4 604953 KIR2DS2, NKAT5 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 KIR2DS2 100132285
chr19 50900000 58617616 19q13.4 604954 KIR2DS3, NKAT7 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 KIR2DS3 3808
chr19 50900000 58617616 19q13.4 604956 KIR2DS5, NKAT9, CD158G Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 KIR2DS5 3810
chr19 50900000 58617616 19q13.4 604818 LILRA3, LIR4, ILT6, HM43 Leukocyte immunoglobulin-like receptor, subfamily A, member 3 LILRA3 11026
chr19 50900000 58617616 19q13.4 612884 MENOQ2 Menopause, natural, age at, QTL2 100302517 associated with rs1172822, rs2384687, rs1551562, rs897798 {Menopause, natural, age at, QTL2}, 612884 (2)
chr19 50906351 50910744 19q13.4 19q13.41 603767 KLK4, EMSP1, PRSS17, AI2A1 Kallikrein-related peptidase 4 KLK4 9622 ENSG00000167749 Amelogenesis imperfecta, type IIA1, 204700 (3), Autosomal recessive Klk4 (MGI:1861379)
chr19 50943298 50953087 19q13.4 19q13.41 605643 KLK5, SCTE, KLKL2 Kallikrein-related peptidase 5 KLK5 25818 ENSG00000167754 Klk5 (MGI:1915918)
chr19 50958630 50969672 19q13.4 19q13.41 602652 KLK6, PRSS9, ZYME Kallikrein-related peptidase 6 KLK6 5653 ENSG00000167755 Klk6 (MGI:1343166)
chr19 50976478 50984063 19q13.41 19q13.41 604438 LKL7, PRSS6, SCCE Kallikrein-related peptidase 7 KLK7 5650 ENSG00000169035 Klk7 (MGI:1346336)
chr19 50996007 51001701 19q13.4 19q13.41 605644 KLK8, TADG14, PRSS19 Kallikrein-related peptidase 8 KLK8 11202 ENSG00000129455 Klk8 (MGI:1343327)
chr19 51002512 51009633 19q13.4 19q13.41 605504 KLK9, KLKL3 Kallikrein-related peptidase 9 KLK9 284366 ENSG00000213022 Klk9 (MGI:1921082)
chr19 51012743 51020174 19q13.4 19q13.41 602673 KLK10, PRSSL1, NES1 Kallikrein-related peptidase 10 KLK10 5655 ENSG00000129451 Klk10 (MGI:1916790)
chr19 51022230 51028033 19q13.4 19q13.41 604434 KLK11, PRSS20, TLSP Kallikrein-related peptidase 11 KLK11 11012 ENSG00000167757 Klk11 (MGI:1929977)
chr19 51028953 51035649 19q13.4 19q13.41 605539 KLK12, KLKL5 Kallikrein-related peptidase 12 KLK12 43849 ENSG00000186474 Klk12 (MGI:1916761)
chr19 51055625 51065109 19q13.4 19q13.41 605505 KLK13, KLKL4 Kallikrein-related peptidase 13 KLK13 26085 ENSG00000167759 Klk13 (MGI:3615275)
chr19 51077494 51084209 19q13.4 19q13.41 606135 KLK14 Kallikrein-related peptidase 14 KLK14 43847 ENSG00000129437 Klk14 (MGI:2447564)
chr19 51097605 51108389 19q13.33 19q13.41 612694 CTU1, ATPBD3 Cytothiouridylase subunit 1 CTU1 90353 ENSG00000142544 Ctu1 (MGI:2385277)
chr19 51124879 51140479 19q13.4 19q13.41 605640 SIGLEC9 Sialic acid-binding immunoglobulin-like lectin 9 SIGLEC9 27180 ENSG00000129450 Siglece (MGI:1932475)
chr19 51142259 51153525 19q13.3 19q13.41 604410 SIGLEC7, AIRM1 Sialic acid-binding immunoglobulin-like lectin 7 SIGLEC7 27036 ENSG00000168995
chr19 51211053 51240018 19q13.3-q13.4 19q13.41 159590 CD33 CD33 antigen (gp67) CD33 945 ENSG00000105383
chr19 51331535 51342123 19q13.41 19q13.41 617740 VSIG10L V-set and immunoglobulin domains-containing protein 10-like VSIG10L 147645 ENSG00000186806 Vsig10l (MGI:1922940)
chr19 51345154 51366417 19q13.3 19q13.41 130410 ETFB, MADD Electron transfer flavoprotein, beta polypeptide ETFB 2109 ENSG00000105379 Glutaric acidemia IIB, 231680 (3), Autosomal recessive Etfb (MGI:106098)
chr19 51379908 51387955 19q13.4 19q13.41 154045 LIM2, MP19, CTRCT19 Lens intrinsic protein 2, 19kD LIM2 3982 ENSG00000105370 same cosmid as ETFB Cataract 19, multiple types, 615277 (3), Autosomal recessive Lim2 (MGI:104698)
chr19 51410020 51417802 19q13.4 19q13.41 606091 SIGLEC10 Sialic acid-binding immunoglobulin-like lectin 10 SIGLEC10 89790 ENSG00000142512 Siglecg (MGI:2443630)
chr19 51450996 51458453 19q13.33-q13.41 19q13.41 605639 SIGLEC8, SAF2, SIGLEC8L Sialic acid-binding immunoglobulin-like lectin 8 SIGLEC8 27181 ENSG00000105366 Siglecf (MGI:2681107)
chr19 51491226 51501788 19q13.4 19q13.41 606094 SIGLEC12, SIGLECL1, S2V, SLG Sialic acid-binding immunoglobulin-like lectin 12 SIGLEC12 89858 ENSG00000254521
chr19 51517818 51531855 19q13.3 19q13.41 604405 SIGLEC6, CD33L, CD33L1, OBBP1 Sialic acid-binding immunoglobulin-like lectin 6 SIGLEC6 946 ENSG00000105492
chr19 51571236 51589737 19q13.4 19q13.41 601139 ZNF175, OTK18 Zinc finger protein-175 ZNF175 7728 ENSG00000105497 Zfp715 (MGI:1917180)
chr19 51610966 51630473 19q13.3 19q13.41 604200 SIGLEC5, CD33L2, OBBP2 Sialic acid-binding Ig-like lectin 5 SIGLEC5 8778 ENSG00000105501
chr19 51692611 51692680 19q13.41 19q13.41 614510 MIR99B Micro RNA 99B MIR99B 407056
chr19 51692785 51692863 19q13.41 19q13.41 611250 MIRLET7E, LET7E Micro RNA Let7e MIRLET7E 406887
chr19 51693253 51693338 19q13.33 19q13.41 611191 MIR125A, MIRN125A Micro RNA 125A MIR125A 406910
chr19 51713111 51723991 19q13.3-q13.4 19q13.41 601463 HAS1 Hyaluronan synthase 1 HAS1 3036 ENSG00000105509 Has1 (MGI:106590)
chr19 51745769 51751896 19q13.4 19q13.41 136537 FPR1 Formyl peptide receptor-1 FPR1 2357 ENSG00000171051 Fpr1 (MGI:107443)
chr19 51752025 51770525 19q13.3-q13.4 19q13.41 136538 FPR2, FPRL1, FPRH1, LXA4R, HM63 Formyl peptide receptor 2 FPR2 2358 ENSG00000171049 Fpr2 (MGI:1278319)
chr19 51795145 51826206 19q13.3-q13.4 19q13.41 136539 FPR3, FPRL2, FPRH2 Formyl peptide receptor 3 FPR3 2359 ENSG00000187474
chr19 51889234 51905051 19q13.41 19q13.41 611903 ZNF649 Zinc finger protein 649 ZNF649 65251 ENSG00000198093
chr19 51964339 51986855 19q13.41 19q13.41 605422 ZNF350, ZBRK1 Zinc finger protein 350 ZNF350 59348 ENSG00000256683
chr19 52189801 52226424 19q13.4 19q13.41 605983 PPP2R1A, MRD36 Protein phosphatase 2, structural/regulatory subunit A, alpha PPP2R1A 5518 ENSG00000105568 Mental retardation, autosomal dominant 36, 616362 (3), Autosomal dominant Ppp2r1a (MGI:1926334)
chr19 52297168 52325926 19q13.41 19q13.41 613910 ZNF480 Zinc finger protein 480 ZNF480 147657 ENSG00000198464
chr19 52392751 52418407 19q13.41 19q13.41 615580 ZNF528, KIAA1827 Zinc finger protein 528 ZNF528 84436 ENSG00000167555
chr19 52596683 52600151 19q13.3-q13.4 19q13.41 604079 ZNF137 Zinc finger protein-137 ZNF137P 7696
chr19 52612363 52690580 19q13.3-q13.4 19q13.41 194558 ZNF83 Zinc finger protein-83 ZNF83 55769 ENSG00000167766
chr19 52838531 52857648 19q13.4 19q13.41 616841 ZNF468 Zinc finger protein 468 ZNF468 90333 ENSG00000204604
chr19 52859490 52897726 19q13.3-q13.4 19q13.41 606427 ZNF320 Zinc finger protein 320 ZNF320 162967 ENSG00000204604
chr19 53066613 53103433 19q13.3-q13.4 19q13.41-q13.42 600398 ZNF160 Zinc finger protein-160 ZNF160 90338 ENSG00000170949
chr19 53503818 53580268 19q13.3-q13.4 19q13.42 606043 ZNF331, ZNF463 Zinc finger protein-331 ZNF331 55422 ENSG00000130844
chr19 53601113 53637056 19q13.42 19q13.42 611165 DPRX Divergent-paired related homeobox DPRX 503834 ENSG00000204595 many pseudogenes
chr19 53707452 53707538 19q13.42 19q13.42 615908 MIR520C Micro RNA 520C MIR520C 574476
chr19 53713346 53713433 19q13.42 19q13.42 614247 MIR519D, MIRN519D Micro RNA 519D MIR519D 574480
chr19 53722165 53722254 19q13.42 19q13.42 616272 MIR520G Micro RNA 520G MIR520G 574484
chr19 53742511 53742598 19q13.42 19q13.42 614755 MIR520H Micro RNA 520H MIR520H 574493
chr19 53787674 53787740 19q13.41 19q13.42 612043 MIR371A Micro RNA 371A MIR371A 442916
chr19 53787889 53787955 19q13.41 19q13.42 612044 MIR372, MIRN372 Micro RNA 372 MIR372 442917
chr19 53788704 53788772 19q13.41 19q13.42 611954 MIR373, MIRN373 Micro RNA 373 MIR373 442918
chr19 53793583 53824402 19q13.4 19q13.42 609648 NLRP12, NALP12, PYPAF7, RNO, FCAS2 NLR family, pyrin domain containing 12 NLRP12 91662 ENSG00000142405 Familial cold autoinflammatory syndrome 2, 611762 (3), Autosomal dominant Nlrp12 (MGI:2676630)
chr19 53865583 53876434 19q13.33-q13.4 19q13.42 609959 MYADM Myeloid-associated differentiation marker MYADM 91663 ENSG00000179820 Myadm (MGI:1355332)
chr19 53882183 53907646 19q13.4 19q13.42 176980 PRKCG, PKCC, PKCG, SCA14 Protein kinase C, gamma polypeptide PRKCG 5582 ENSG00000126583 Spinocerebellar ataxia 14, 605361 (3), Autosomal dominant Prkcg (MGI:97597)
chr19 53909424 53943943 19q13.4 19q13.42 606899 CACNG7 Calcium channel, voltage-dependent, gamma-7 subunit CACNG7 59284 ENSG00000105605 Cacng7 (MGI:1932374)
chr19 53963035 53990214 19q13.4 19q13.42 606900 CACNG8 Calcium channel, voltage-dependent, gamma-8 subunit CACNG8 59283 ENSG00000142408 Cacng8 (MGI:1932376)
chr19 53991148 54012665 19q13.4 19q13.42 606898 CACNG6 Calcium channel, voltage-dependent, gamma-6 subunit CACNG6 59285 ENSG00000130433 Cacng6 (MGI:1859168)
chr19 54040824 54063965 19q13.4 19q13.42 616804 VSTM1, SIRL1 V-SET and transmembrane domains-containing protein 1 VSTM1 284415 ENSG00000189068
chr19 54069894 54081364 19q13.4 19q13.42 616802 TARM1 T cell-interacting activating receptor on myeloid cells 1 TARM1 441864 ENSG00000248385 Tarm1 (MGI:2442280)
chr19 54094667 54102685 19q13.4 19q13.42 606862 OSCAR Osteoclast-associated receptor OSCAR 126014 ENSG00000170909 Oscar (MGI:2179720)
chr19 54102337 54106973 19q13.42 19q13.42 603832 NDUFA3 NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 3 NDUFA3 4696 ENSG00000170906 Ndufa3 (MGI:1913341)
chr19 54115409 54131718 19q13.4 19q13.42 606419 PRPF31, PRP31, RP11 Precursor RNA-processing factor 31, S. cerevisiae, homolog of PRPF31 26121 ENSG00000105618 Retinitis pigmentosa 11, 600138 (3), Autosomal dominant Prpf31 (MGI:1916238)
chr19 54137688 54155707 19q13.4 19q13.42 604910 CNOT3, NOT3 CCR4-NOT transcription complex, subunit 3 CNOT3 4849 ENSG00000088038 Cnot3 (MGI:2385261)
chr19 54160094 54173249 19q13.42 19q13.42 617181 TMC4 Transmembrane channel-like protein 4 TMC4 147798 ENSG00000167608 Tmc4 (MGI:2669035)
chr19 54173411 54189881 19q13.4 19q13.42 606048 MBOAT7, BB1, LENG4, MRT57 Membrane bound O-acyltransferase domain containing 7 MBOAT7 79143 ENSG00000125505 Mental retardation, autosomal recessive 57, 617188 (3), Autosomal recessive Mboat7 (MGI:1924832)
chr19 54189969 54194535 19q13.4 19q13.42 608754 TSEN34, PCH2C, LENG5, SEN34 tRNA splicing endonuclease 34, S. cerevisiae, homolog of TSEN34 79042 ENSG00000170892 mutation identified in 1 PCH2C patient ?Pontocerebellar hypoplasia type 2C, 612390 (3) Tsen34 (MGI:1913328)
chr19 54200556 54207646 19q13.4 19q13.42 603631 RPS9 Ribosomal protein S9 RPS9 6203 ENSG00000170889 Rps9 (MGI:1924096)
chr19 54216277 54223086 19q13.4 19q13.42 604820 LILRB3, LIR3, ILT5, HL9 Leukocyte immunoglobulin-like receptor, subfamily B, member 3 LILRB3 11025 ENSG00000204577 Pira1,Lilra6,Pira2,Gm14548,Pira6,Gm15448,Pirb (MGI:1195970,MGI:1195974,MGI:3705216,MGI:1195971,MGI:894311,MGI:3709645,MGI:1195969)
chr19 54250404 54257307 19q13.2 19q13.42 604814 LILRB5, LIR8 Leukocyte immunoglobulin-like receptor, subfamily B, member 5 LILRB5 10990 ENSG00000105609
chr19 54273820 54281177 19q13.4 19q13.42 604815 LILRB2, LIR2, ILT4, MIR10 Leukocyte immunoglobulin-like receptor, subfamily B, member 2 LILRB2 10288 ENSG00000131042
chr19 54307069 54313138 19q13.4 19q13.42 606047 LILRA9, ILT11, CD85F, LIR9 Leukocyte immunoglobulin-like receptor, subfamily A, member 5 LILRA5 353514 ENSG00000187116 Lilra5 (MGI:3647196)
chr19 54333184 54339168 19q13.42 19q13.42 607517 LILRA4, ILT7 Leukocyte immunoglobulin-like receptor, subfamily A, member 4 LILRA4 23547 ENSG00000239961
chr19 54353623 54370555 19q13.4 19q13.42 602992 LAIR1 Leukocyte-associated immunoglobulin-like receptor 1 LAIR1 3903 ENSG00000167613 Lair1 (MGI:105492)
chr19 54415430 54436718 19q13.4 19q13.42 605784 TTYH1 Tweety, Drosophila, homolog of, 1 TTYH1 57348 ENSG00000167614 Ttyh1 (MGI:1889007)
chr19 54447620 54462045 19q13.42 19q13.42 616575 LENG8, KIAA1932 Leukocyte receptor cluster gene 8 LENG8 114823 ENSG00000167615 Leng8 (MGI:2142195)
chr19 54465024 54473289 19q13.42 19q13.42 609171 CDC42EP5, CEP5, BORG3 CDC42 effector protein 5 CDC42EP5 148170 ENSG00000167617 Cdc42ep5 (MGI:1929745)
chr19 54502796 54510692 19q13.42 19q13.42 602993 LIAR2, CD306 Leukocyte-associated immunoglobulin-like receptor 2 LAIR2 3904 ENSG00000167618
chr19 54572996 54587559 19q13.4 19q13.42 604812 LILRA2, LIR7, ILT1 Leukocyte immunoglobulin-like receptor, subfamily A, member 2 LILRA2 11027 ENSG00000239998
chr19 54593575 54602380 19q13.2 19q13.42 604810 LILRA1, LIR6 Leukocyte immunoglobulin-like receptor, subfamily A, member 1 LILRA1 11024 ENSG00000104974
chr19 54616929 54637924 19q13.4 19q13.42 604811 LILRB1, LIR1, ILT2, MIR7, CD85 Leukocyte immunoglobulin-like receptor, subfamily B, member 1 LILRB1 10859 ENSG00000104972
chr19 54662523 54670358 19q13.4 19q13.42 604821 LILRB4, LIR5, ILT3, HM18 Leukocyte immunoglobulin-like receptor, subfamily B, member 4 LILRB4 11006 ENSG00000186818 Lilrb4a,Lilr4b (MGI:102701,MGI:102702)
chr19 54724446 54736535 19q13.4 19q13.42 610095 KIR3KL3, KIRC1, KIR3DL7, KIR44 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 KIR3DL3 115653 ENSG00000242019 Kir3dl2,Kir3dl1 (MGI:2652397,MGI:3612791)
chr19 54738508 54753051 19q13.4 19q13.42 604938 KIR2DL3, NKAT2 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 KIR2DL3 3804 ENSG00000243772
chr19 54769207 54784325 19q13.4 19q13.42 604936 KIR2DL1, NKAT1 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 KIR2DL1 3802 ENSG00000125498
chr19 54786361 54790417 19q13.4 19q13.42 610604 KIR3DP1, CD158C, KIRX, KIR48, KIR2DS6 Killer cell immunoglobulin-like receptor, three domains, pseudogene KIR3DP1 548594 functional in some individuals
chr19 54803611 54814516 19q13.4 19q13.42 604945 KIR2DL4, KIR103AS Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 KIR2DL4 3805 ENSG00000189013
chr19 54816437 54830777 19q13.4 19q13.42 604946 KIR3DL1, NKAT3, NKB1, AMB11, KIR3DS1 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 KIR3DL1 3811 ENSG00000167633 {AIDS, delayed/rapid progression to}, 609423 (3)
chr19 54832675 54848568 19q13.4 19q13.42 604955 KIR2DS4, NKAT8 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 KIR2DS4 3809 ENSG00000221957
chr19 54850319 54867214 19q13.4 19q13.42 604947 KIR3DL2, NKAT4 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 KIR3DL2 3812 ENSG00000240403
chr19 54874092 54891419 19q13.4 19q13.42 147045 FCAR Fc fragment of IgA, receptor for FCAR 2204 ENSG00000186431
chr19 54906062 54938210 19q13.42 19q13.42 604530 NCR1, LY94, NKP46 Natural cytotoxicity triggering receptor 1 (lymphocyte antigen 94, mouse, homolog of) NCR1 9437 ENSG00000189430 Ncr1 (MGI:1336212)
chr19 54923508 54965183 19q13.4 19q13.42 609661 NALP7, NOD12, PYPAF3, HYDM NACHT domain-, leucine-rich repeat-, and PYD-containing protein 7 NLRP7 199713 ENSG00000167634 Hydatidiform mole, recurrent, 1, 231090 (3), Autosomal recessive
chr19 54965278 55001141 19q13.4 19q13.42 609364 NALP2, PAN1, PYPAF2 NACHT-, leucine-rich repeat-, and PYD-containing 2 NLRP2 55655 ENSG00000022556 Nlrp2 (MGI:3041206)
chr19 55013704 55038263 19q13.4 19q13.42 605546 GP6, GPIV, BDPLT11 Glycoprotein VI, platelet GP6 51206 ENSG00000088053 Bleeding disorder, platelet-type, 11, 614201 (3), Autosomal recessive Gp6 (MGI:1889810)
chr19 55075852 55087922 19q13.4 19q13.42 614987 EPS8L1, EPS8R1 EPS8-like protein 1 EPS8L1 54869 ENSG00000131037 Eps8l1 (MGI:1914675)
chr19 55090912 55117599 19q13.3-q13.4 19q13.42 613245 PPP1R12C, MBS85 Protein phosphatase 1, regulatory subunit 12C PPP1R12C 54776 ENSG00000125503 Ppp1r12c (MGI:1924258)
chr19 55132697 55149353 19q13.4 19q13.42 191041 TNNT1, ANM, NEM5 Troponin-T1, skeletal, slow TNNT1 7138 ENSG00000105048 Nemaline myopathy 5, Amish type, 605355 (3), Autosomal recessive Tnnt1 (MGI:1333868)
chr19 55151766 55157731 19q13.4 19q13.42 191044 TNNI3, CMH7, CMD2A, RCM1, CMD1FF Troponin-I, cardiac TNNI3 7137 ENSG00000129991 mutation identified in 1 CMD2A family Cardiomyopathy, dilated, 1FF, 613286 (3); ?Cardiomyopathy, dilated, 2A, 611880 (3), Autosomal recessive; Cardiomyopathy, familial restrictive, 1, 115210 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 7, 613690 (3), Autosomal dominant Tnni3 (MGI:98783)
chr19 55158660 55166721 19q13.4 19q13.42 614566 DNAAF3, PF22, DAB1, CILD2 Dynein, axonemal, assembly factor 3 DNAAF3 352909 ENSG00000167646 Ciliary dyskinesia, primary, 2, 606763 (3), Autosomal recessive Dnaaf3 (MGI:3588207)
chr19 55173094 55180440 19q13.42 19q13.42 600782 SYT5 Synaptotagmin-5 SYT5 6861 ENSG00000129990 Syt5 (MGI:1926368)
chr19 55181246 55209505 19q13.4 19q13.42 602510 PTPRH Protein tyrosine phosphatase, receptor type, H PTPRH 5794 ENSG00000080031 Ptprh (MGI:3026877)
chr19 55226633 55229263 19q13.42 19q13.42 617806 TMEM86B Transmembrane protein 86B TMEM86B 255043 ENSG00000180089 Tmem86b (MGI:1915505)
chr19 55229778 55258669 19q13.42 19q13.42 610875 SAPS1, PP6R1, KIAA1115 SAPS domain family, member 1 PPP6R1 22870 ENSG00000105063 Ppp6r1 (MGI:2442163)
chr19 55262221 55280422 19q13.42 19q13.42 612939 HSPBP1 Heat-shock 70kD protein-binding protein 1 HSPBP1 23640 ENSG00000133265 Hspbp1 (MGI:1913495)
chr19 55284100 55312561 19q13.4 19q13.42 609235 BRSK1, KIAA1811 BR serine/threonine kinase 1 BRSK1 84446 ENSG00000160469 Brsk1 (MGI:2685946)
chr19 55308868 55334042 19q13.42 19q13.42 617291 TMEM150B, DRAM3, TTN2, TMEM224 Transmembrane protein 150B TMEM150B 284417 ENSG00000180061 Tmem150b (MGI:2679718)
chr19 55339852 55348120 19q13.42 19q13.42 613198 SUV420H2 Suppressor of variegation 4-20, Drosophila, homolog of, 2 KMT5C 84787 ENSG00000133247 Kmt5c (MGI:2385262)
chr19 55364381 55370462 19q13.3-q13.4 19q13.42 147681 IL11 Interleukin-11 IL11 3589 ENSG00000095752 Il11 (MGI:107613)
chr19 55385931 55403247 19q13.4 19q13.42 603638 RPL28 Ribosomal protein L28 RPL28 6158 ENSG00000108107 Rpl28 (MGI:101839)
chr19 55401281 55408438 19q13.42 19q13.42 610309 UBE2S, EPF5, E2EPF Ubiquitin-conjugating enzyme E2S UBE2S 27338 ENSG00000108106 Ube2s (MGI:1925141)
chr19 55428737 55442862 19q13.42 19q13.42 617328 SHISA7 Shisa family, member 7 SHISA7 729956 ENSG00000187902 Shisa7 (MGI:3605641)
chr19 55452977 55461681 19q13.42 19q13.42 612928 ISOC2 Isochorismatase domain-containing 2 ISOC2 79763 ENSG00000063241 Isoc2a (MGI:3609243)
chr19 55476331 55484486 19q13.4 19q13.42 610671 ZNF628, ZEC Zinc finger protein 628 ZNF628 89887 ENSG00000197483 Zfp628 (MGI:2665174)
chr19 55591370 55599702 19q13.42 19q13.42 609133 FIZ1, FLJ14768 FLT3-interacting zinc finger protein 1 FIZ1 84922 ENSG00000179943 Fiz1 (MGI:1344336)
chr19 55641025 55643469 19q13.42 19q13.42 617888 ZNF580 Zinc finger protein 580 ZNF580 51157 ENSG00000213015 Zfp580 (MGI:1916242)
chr19 55647392 55653160 19q13.42 19q13.42 613478 CCDC106 Coiled-coil domain-containing protein 106 CCDC106 29903 ENSG00000173581 Ccdc106 (MGI:2385900)
chr19 55654049 55674715 19q13.42 19q13.42 191318 U2AF2, U2AF65 U2 small nuclear RNA auxiliary factor 2 U2AF2 11338 ENSG00000063244 U2af2 (MGI:98886)
chr19 55675194 55695766 19q13 19q13.42 607262 EPN1 Epsin 1 EPN1 29924 ENSG00000063245 Epn1 (MGI:1333763)
chr19 55708431 55738401 19q13.4 19q13.42 609663 NALP9, NOD6 NACHT domain-, leucine-rich repeat-, and PYD-containing protein 9 NLRP9 338321 ENSG00000185792 Nlrp9b (MGI:2675377)
chr19 55757297 55763420 19q13.4 19q13.42 612601 RFPL4A, RNF210 Ret finger protein-like 4A RFPL4A 342931 ENSG00000223638
chr19 55785396 55836761 19q13.4 19q13.42-q13.43 609664 NALP11, PYPAF7, NOD17 NACHT domain-, leucine-rich repeat-, and PYD-containing protein 11 NLRP11 204801 ENSG00000179873
chr19 55836577 55881854 19q13.4 19q13.43 609645 NALP4, PAN2, PYPAF4 NACHT domain-, leucine-rich repeat-c and PYD-containing protein 4 NLRP4 147945 ENSG00000160505 Nlrp4c,Nlrp4e (MGI:3056600,MGI:1890518)
chr19 55891691 55932335 19q13.4 19q13.43 609660 NALP13, NOD14 NACHT domain-, leucine-rich repeat-, and PYD-containing protein 13 NLRP13 126204 ENSG00000173572
chr19 55947831 55988628 19q13.4 19q13.43 609659 NALP8, NOD16, PAN4 NACHT domain-, leucine-rich repeat-, and PYD-containing protein 8 NLRP8 126205 ENSG00000179709
chr19 55999725 56061809 19q13 19q13.43 609658 NALP5, MATER NACHT domain-, leucine-rich repeat-, and PYD-containing protein 5 NLRP5 126206 ENSG00000171487 Nlrp5 (MGI:1345193)
chr19 56132508 56160892 19q13.43 19q13.43 607874 ZNF444, EZF2 Zinc finger protein 444 ZNF444 55311 ENSG00000167685 Zfp444 (MGI:1923365)
chr19 56176019 56185774 19q13.4 19q13.43 611178 GALP, ALARIN Galanin-like peptide (GALP precursor protein) GALP 85569 ENSG00000197487 Galp (MGI:2663979)
chr19 56382750 56393600 19q13.43 19q13.43 615600 ZNF582 Zinc finger protein 582 ZNF582 147948 ENSG00000018869
chr19 56438511 56478064 19q13.4 19q13.43 611024 ZNF667, MIPU1 Zinc finger protein 667 ZNF667 63934 ENSG00000198046 Zfp667 (MGI:2442757)
chr19 56536789 56559191 19q13.4 19q13.43 616798 ZFP28 Zinc finger protein 28 ZFP28 140612 ENSG00000196867 Zfp28 (MGI:99175)
chr19 56595258 56624480 19q13.4 19q13.43 194545 ZNF71 Zinc finger protein-71 (Cos26) ZNF71 58491 ENSG00000197951 previously assigned to 22q11.2
chr19 56810076 56840725 19q13.4 19q13.43 601483 PEG3 Paternally expressed gene 3 PEG3 5178 ENSG00000198300 Peg3 (MGI:104748)
chr19 57151725 57167487 19q13.43 19q13.43 611168 DUXA Double homeobox A DUXA 503835 ENSG00000258873 many pseudogenes
chr19 57191499 57222845 19q13.4 19q13.43 604668 ZNF264 Zinc finger protein-264 ZNF264 9422 ENSG00000083844
chr19 57230316 57235549 19q13.43 19q13.43 603495 AURKC, STK13, AIE2, SPGF5 Aurora kinase C AURKC 6795 ENSG00000105146 Spermatogenic failure 5, 243060 (3), Autosomal recessive Aurkc (MGI:1321119)
chr19 57279966 57294067 19q13.4 19q13.43 604755 ZNF272, HZF8, ZNF460 Zinc finger protein-272 ZNF460 10794 ENSG00000197714
chr19 57320496 57330775 19q13.43 19q13.43 616847 ZNF543 Zinc finger protein 543 ZNF543 125919 ENSG00000178229
chr19 57351252 57359897 19q13.43 19q13.43 613840 ZNF304 Zinc finger protein 304 ZNF304 57343 ENSG00000131845
chr19 57455173 57456738 19q13.4 19q13.43 605234 VN1R1, V1RL1 Vomeronasal 1 receptor 1 VN1R1 57191 ENSG00000178201
chr19 57487710 57494679 19q13.43 19q13.43 617410 ZNF419 Zinc finger protein 419 ZNF419 79744 ENSG00000105136
chr19 57614218 57624716 19q13.4 19q13.43 604076 ZNF134 Zinc finger protein-134 ZNF134 7693 ENSG00000213762
chr19 57633166 57644045 19q13.4 19q13.43 601856 ZNFC25 Zinc finger protein-C2H2-25 ZNF211 10520 ENSG00000121417
chr19 57651496 57679151 19q13.43 19q13.43 613419 ZSCAN4, ZNF494 Zinc finger- and SCAN domain-containing protein 4 ZSCAN4 201516 ENSG00000180532
chr19 57696274 57709210 19q13.4 19q13.43 604085 ZNF154 Zinc finger protein-154 ZNF154 7710 ENSG00000179909
chr19 57940832 57947708 19q13 19q13.43 606956 ZNF256 Zinc finger protein 256 ZNF256 10172 ENSG00000152454
chr19 57977052 58003345 19q13.4 19q13.43 613905 ZNF606, ZNF328, KIAA1852 Zinc finger protein 606 ZNF606 80095 ENSG00000166704 Zfp606 (MGI:1914620)
chr19 58059226 58069754 19q13.4 19q13.43 604077 ZNF135 Zinc finger protein-135 ZNF135 7694 ENSG00000176293
chr19 58182988 58213561 19q13.4 19q13.43 605467 ZNF274 Zinc finger protein-274 ZNF274 10782 ENSG00000171606 Zfp369,Zfp110 (MGI:1890378,MGI:2176229)
chr19 58278951 58295887 19q13.43 19q13.43 194532 ZNF8 Zinc finger protein-8 ZNF8 7554 ENSG00000278129 previously assigned to 20q13 Zfp128 (MGI:2389445)
chr19 58326999 58342345 19q13.43 19q13.43 165260 ZSCAN22, HKR2 Zinc finger- and SCAN domain-containing protein 22 ZSCAN22 342945 ENSG00000182318 Zscan22 (MGI:2443312)
chr19 58346805 58353498 19cen-q13.2 19q13.43 138670 A1BG Glycoprotein, alpha-1B A1BG 1 ENSG00000121410 order: C3-SE-LU-A1BG A1bg (MGI:2152878)
chr19 58387268 58394803 19q13.4 19q13.43 603630 RPS5 Ribosomal protein S5 RPS5 6193 ENSG00000083845 Rps5 (MGI:1097682)
chr19 58432813 58440221 19q13.4 19q13.43 604074 ZNF132 Zinc finger protein-132 ZNF132 7691 ENSG00000131849
chr19 58467044 58473577 19q13.43 19q13.43 617477 ZNF324, ZF5128 Zinc finger protein 324 ZNF324 25799 ENSG00000083812 Zfp324 (MGI:2444641)
chr19 58498332 58512064 19q13.43 19q13.43 603314 SLC27A5, FATP5, VLACSR, VLCSH2 Solute carrier family 27 (fatty acid transporter), member 5 SLC27A5 10998 ENSG00000083807 Slc27a5 (MGI:1347100)
chr19 58544468 58550721 19q13.4 19q13.43 601742 TRIM28, KAP1, TIF1B Tripartite motif-containing protein 28 TRIM28 10155 ENSG00000130726 Trim28 (MGI:109274)
chr19 58551565 58555623 19q 19q13.43 610893 CHMP2A, VPS2A, VPS2, BC2 CHMP family, member 2A CHMP2A 27243 ENSG00000130724 Chmp2a (MGI:1916203)
chr19 58555711 58558975 19q13.43 19q13.43 603173 UBE2M, UBC12 Ubiquitin-conjugating enzyme E2M UBE2M 9040 ENSG00000130725 Ube2m (MGI:108278)
chr19 58561916 58574477 19q13.2-q13.4 19q13.43 194550 ZNF42, MZF1 Zinc finger protein-42 (myeloid-specific retinoic acid responsive) MZF1 7593 ENSG00000099326 Mzf1 (MGI:107457)
chr19 0 58617616 Chr.19 603979 ZNF97 Zinc finger protein-97
chr20 0 28100000 20p 607116 AD8 Alzheimer disease 8 353128 ?related to CST3 Alzheimer disease 8, 607116 (2)
chr20 0 5100000 20p13 608031 ALS7 Amyotrophic lateral sclerosis 7 ALS7 406238 max lod at D20S103 Amyotrophic lateral sclerosis 7, 608031 (2)
chr20 0 28100000 20p 605804 ATOD3 Dermatitis, atopic, 3 117187 max lod at D20S115 {Dermatitis, atopic, susceptibility to, 3}, 605804 (2)
chr20 0 25700000 20pter-p11.2 608559 BMIQ6 Body mass index quantitative trait locus 6 BMIQ6 449017 near D20S482 and D20S851 [Body mass index QTL6], 608559 (2)
chr20 0 5100000 20p13 611242 RLS5 Restless legs syndrome, susceptibility to, 5 100188839 max lod at D20S849 {Restless legs syndrome 5}, 611242 (2)
chr20 325570 330227 20p13 20p13 601947 SOX12, SOX22 SRY (sex-determining region Y)-box 12 SOX12 6666 ENSG00000177732 Sox12 (MGI:98360)
chr20 346725 359704 20p13 20p13 610666 NRSN2 Neurensin 2 NRSN2 80023 ENSG00000125841 Nrsn2 (MGI:2684969)
chr20 380628 397558 20p13 20p13 607898 TRIB3, NIPK, SINK, C20orf97, SKIP3 Tribbles, Drosophila, homolog of, 3 TRIB3 57761 ENSG00000101255 Trib3 (MGI:1345675)
chr20 408049 432138 20p13 20p13 610924 RBCK1, HOIL1, PGBM1, PBMEI RANBP-type and C3HC4-type zinc finger-containing 1 RBCK1 10616 ENSG00000125826 Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3), Autosomal recessive Rbck1 (MGI:1344372)
chr20 435476 462552 20p13 20p13 611663 TBC1D20, C20orf140, WARBM4 TBC1 domain family, member 20 TBC1D20 128637 ENSG00000125875 Warburg micro syndrome 4, 615663 (3), Autosomal recessive Tbc1d20 (MGI:1914481)
chr20 472497 543837 20p13 20p13 115440 CSNK2A1, CK2A1, OCNDS Casein kinase-2, alpha-1 polypeptide CSNK2A1 1457 ENSG00000101266 pseudogene on 11p15 Okur-Chung neurodevelopmental syndrome, 617062 (3), Autosomal dominant Csnk2a1 (MGI:88543)
chr20 603992 610265 20p13 20p13 601010 TCF15 Transcription factor-15 (basic helix-loop-helix) TCF15 6939 ENSG00000125878 Tcf15 (MGI:104664)
chr20 646614 653369 20p13 20p13 617583 SRXN1, SRX Sulfiredoxin 1 SRXN1 140809 ENSG00000271303 Srxn1 (MGI:104971)
chr20 760079 776014 20p13 20p13 613350 SLC52A3, C20orf54, RFT2, BVVLS1 Solute carrier family 52, riboflavin transporter, member 3 SLC52A3 113278 ENSG00000101276 mutation identified in 1 FZLD family Brown-Vialetto-Van Laere syndrome 1, 211530 (3), Autosomal recessive; ?Fazio-Londe disease, 211500 (3), Autosomal recessive Slc52a3 (MGI:1916948)
chr20 833696 846278 20p13 20p13 611393 FAM110A, C20orf55 Family with sequence similarity 110, member A FAM110A 83541 ENSG00000125898 Fam110a (MGI:1921097)
chr20 869898 916367 20p13 20p13 603705 ANGPT4, ANG4 Angiopoietin 4 ANGPT4 51378 ENSG00000101280 no ANGT3 in human Angpt4 (MGI:1336887)
chr20 958451 1002263 20p13 20p13 610573 RSPO4, CRISTIN4 R-spondin family, member 4 RSPO4 343637 ENSG00000101282 Anonychia congenita, 206800 (3), Autosomal recessive Rspo4 (MGI:1924467)
chr20 1113228 1172245 20p13 20p13 617858 PSMF1, PI31 Proteasome inhibitor subunit 1 PSMF1 9491 ENSG00000125818 Psmf1 (MGI:1346072)
chr20 1266290 1309326 20p13 20p13 604942 SNPH Syntaphilin SNPH 9751 ENSG00000101298 Snph (MGI:2139270)
chr20 1309908 1329234 20p13 20p13 617358 SDCBP2, SITAC, ST2, SITAC18 Syndecan-binding protein 2 SDCBP2 27111 ENSG00000125775 Sdcbp2 (MGI:2385156)
chr20 1368976 1393171 20p13 20p13 186945 FKBP1A, FKBP12 FK506-binding protein-1A, 12kD FKBP1A 2280 ENSG00000088832 Fkbp1a (MGI:95541)
chr20 1442161 1467792 20p 20p13 606610 P47 p47, rat, homolog of NSFL1C 55968 ENSG00000088833 Nsfl1c (MGI:3042273)
chr20 1629151 1686515 20p13 20p13 605466 SIRPG, SIRPB2 Signal regulatory protein, gamma SIRPG 55423 ENSG00000089012
chr20 1894166 1939894 20p13 20p13 602461 SHPS1 SHP substrate-1 SIRPA 140885 ENSG00000198053 Sirpa (MGI:108563)
chr20 1978755 1994284 20p13 20p13 131340 PDYN, SCA23 Prodynorphin PDYN 5173 ENSG00000101327 Spinocerebellar ataxia 23, 610245 (3), Autosomal dominant Pdyn (MGI:97535)
chr20 2098020 2148554 20p13 20p13 609370 STK35, CLIK1 Serine/threonine kinase 35 STK35 140901 ENSG00000125834 Stk35 (MGI:1914583)
chr20 2295966 2341078 20q12 20p13 600238 TGM3, UHS2 Transglutaminase-3 (E polypeptide, protein-glutamine-gamma-glutamyl transferase) TGM3 7053 ENSG00000125780 mutation identified in 1 UHS2 patient ?Uncombable hair syndrome 2, 617251 (3), Autosomal recessive Tgm3 (MGI:98732)
chr20 2380907 2432752 20p13-p12.2 20p13 613900 TGM6, TG6, TGY, SCA35 Transglutaminase 6 TGM6 343641 ENSG00000166948 Spinocerebellar ataxia 35, 613908 (3), Autosomal dominant Tgm6 (MGI:3044321)
chr20 2461634 2470852 20p13 20p13 182282 SNRPB, CCMS Small nuclear ribonucleoprotein polypeptides B and B1 SNRPB 6628 ENSG00000125835 Cerebrocostomandibular syndrome, 117650 (3), Autosomal dominant Snrpb (MGI:98342)
chr20 2536606 2641783 20p13 20p13 606707 TMC2 Transmembrane channel-like protein 2 TMC2 117532 ENSG00000149488 Tmc2 (MGI:2151017)
chr20 2652531 2658392 20p13 20p13 614154 NOP56, SCA36 Nop56, S. cerevisiae, homolog of NOP56 10528 ENSG00000101361 Spinocerebellar ataxia 36, 614153 (3), Autosomal dominant Nop56 (MGI:1914384)
chr20 2652776 2652841 20p13 20p13 614155 MIR1292, MIRN1292 Micro RNA 1292 MIR1292 100302138
chr20 2658389 2664222 20p13 20p13 604526 IDH3B, RP46 Isocitrate dehydrogenase 3, beta subunit IDH3B 3420 ENSG00000101365 Retinitis pigmentosa 46, 612572 (3) Idh3b (MGI:2158650)
chr20 2692877 2760107 20p13 20p13 609935 EBF4, KIAA1442 Early B-cell factor 4 EBF4 57593 ENSG00000088881 Ebf4 (MGI:2385972)
chr20 2840696 2866731 20p13 20p13 608550 VPS16 Vacuolar protein sorting 18, yeast, homolog of VPS16 64601 ENSG00000215305 Vps16 (MGI:2136772)
chr20 2864194 3038668 20p13 20p13 176884 PTPRA, PTPA, PTPRL2, LRP Protein tyrosine phosphatase, receptor type, alpha polypeptide PTPRA 5786 ENSG00000132670 Ptpra (MGI:97808)
chr20 3039060 3045895 20p13 20p13 602352 GNRH2 Gonadotropin-releasing hormone-2 GNRH2 2797 ENSG00000125787
chr20 3046028 3048249 20p13 20p13 611988 MRPS26, MRPS13 Mitochondrial ribosomal protein S26 MRPS26 64949 ENSG00000125901 Mrps26 (MGI:1333830)
chr20 3068870 3072516 20p13 20p13 167050 OXT Oxytocin-neurophysin I OXT 5020 ENSG00000101405 12kb from ARVP Oxt (MGI:97453)
chr20 3082555 3093520 20p13 20p13 192340 AVP, AVRP, VP Arginine vasopressin (neurophysin II, antidiuretic hormone) AVP 551 ENSG00000101200 distal 20p Diabetes insipidus, neurohypophyseal, 125700 (3), Autosomal dominant Avp (MGI:88121)
chr20 3146518 3159885 20p13 20p13 614272 FASTKD5 Fast kinase domain-containing protein 5 FASTKD5 60493 ENSG00000215251 Fastkd5 (MGI:2139469)
chr20 3162616 3173596 20p13 20p13 610484 PROSAPIP1, KIAA0552 Proline-rich synapse-associated protein-interacting protein 1 LZTS3 9762 ENSG00000088899 Lzts3 (MGI:2656976)
chr20 3190349 3204696 20p13 20p13 616177 DDRGK1, UFBP1, C20orf116, SEMDSH DDRGK domain-containing protein 1 DDRGK1 65992 ENSG00000198171 Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3), Autosomal recessive Ddrgk1 (MGI:1924256)
chr20 3208867 3227448 20p 20p13 147520 ITPA, EIEE35 Inosine triphosphatase-A ITPA 3704 ENSG00000125877 Epileptic encephalopathy, early infantile, 35, 616647 (3), Autosomal recessive; [Inosine triphosphatase deficiency], 613850 (3) Itpa (MGI:96622)
chr20 3227416 3241483 20p13-p12 20p13 610206 SLC4A11, BTR1, NABC1, CHED, CDPD, FECD4 Solute carrier family 4 (sodium borate cotransporter), member 11 SLC4A11 83959 ENSG00000088836 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3), Autosomal recessive; Corneal endothelial dystrophy, autosomal recessive, 217700 (3), Autosomal recessive Slc4a11 (MGI:2138987)
chr20 3249301 3407661 20p13 20p13 614146 C20orf194 Chromosome 20 open reading frame 194 C20orf194 25943 ENSG00000088854 4930402H24Rik (MGI:1923029)
chr20 3471017 3651121 20p13 20p13 603130 ATRN, MGCA Attractin (mahogany, mouse, homolog of) ATRN 8455 ENSG00000088812 Atrn (MGI:1341628)
chr20 3667964 3682689 20p13 20p13 607114 ADAM33 A disintegrin and metalloproteinase domain 33 ADAM33 80332 ENSG00000149451 Adam33 (MGI:1341813)
chr20 3686969 3712557 20p13 20p13 600751 SIGLEC1, SN, CD169 Sialic acid-binding immunoglobulin-like lectin 1 (sialoadhesin) SIGLEC1 6614 ENSG00000088827 Siglec1 (MGI:99668)
chr20 3732669 3753110 20p13 20p13 610702 HSPA12B Heat-shock 70kD protein 12B HSPA12B 116835 ENSG00000132622 Hspa12b (MGI:1919880)
chr20 3777503 3781465 20p13 20p13 610674 C20orf28, CLAMP, SPEF1 Sperm flagellar protein 1 SPEF1 25876 ENSG00000101222 Spef1 (MGI:3513546)
chr20 3783850 3786689 20p13 20p13 117140 CENPB Centromeric protein B CENPB 1059 ENSG00000125817 Cenpb (MGI:88376)
chr20 3786771 3806120 20p13 20p13 116949 CDC25B Cell division cycle 25B CDC25B 994 ENSG00000101224 Cdc25b (MGI:99701)
chr20 3820523 3825306 20p13 20p13 614824 AP5S1, C20orf29 Adaptor-related protein complex 5, sigma-1 subunit AP5S1 55317 ENSG00000125843 Ap5s1 (MGI:1916846)
chr20 3846798 3876122 20p13 20p13 609676 MAVS, VISA, IPS1, CARDIF, KIAA1271 Mitochondrial antiviral signaling protein MAVS 57506 ENSG00000088888 Mavs (MGI:2444773)
chr20 3888822 3933086 20p13-p12.3 20p13 606157 PANK2, NBIA1, PKAN, HARP Pantothenate kinase 2 PANK2 80025 ENSG00000125779 HARP syndrome, 607236 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 1, 234200 (3), Autosomal recessive Pank2 (MGI:1921700)
chr20 3917493 3917570 20p13 20p13 613188 MIR103-2, MIRN103-2 Micro RNA 103-2 MIR103A2 406896
chr20 3927308 4015590 20p13-p12.1 20p13 612489 RNF24, G1L Ring finger protein 24 RNF24 11237 ENSG00000101236 Rnf24 (MGI:1261771)
chr20 4148778 4187746 20p13 20p13 615854 SMOX, SMO, PAO1, C20orf16, PAOH Spermine oxidase SMOX 54498 ENSG00000088826 Smox (MGI:2445356)
chr20 4220630 4249011 20p13 20p13 104219 ADRA1D, ADRA1A Adrenergic, alpha-1D-, receptor ADRA1D 146 ENSG00000171873 incorrectly assigned to 5q Adra1d (MGI:106673)
chr20 4686093 4701589 20pter-p12 20p13 176640 PRNP, PRIP, KURU, CJD Prion protein (p27-30) PRNP 5621 ENSG00000171867 pter-PRNP-SCG1-BMP2A-PAX1-cen Cerebral amyloid angiopathy, PRNP-related, 137440 (3), Autosomal dominant; Creutzfeldt-Jakob disease, 123400 (3), Autosomal dominant; Gerstmann-Straussler disease, 137440 (3), Autosomal dominant; Huntington disease-like 1, 603218 (3), Autosomal dominant; Insomnia, fatal familial, 600072 (3), Autosomal dominant; {Kuru, susceptibility to}, 245300 (3); Prion disease with protracted course, 606688 (3), Autosomal dominant Prnp (MGI:97769)
chr20 4721853 4728461 20pter-p12 20p13 604263 PRND, DPL Prion gene complex, downstream (doppel) PRND 23627 ENSG00000171864 Prn,Prnd (MGI:1346999,MGI:97767)
chr20 4852355 5010292 20p13-p12 20p13 603791 SLC23A2, SVCT2 Solute carrier family 23 (nucleobase transporters), member 2 (sodium-dependent vitamin C transporter 2) SLC23A2 9962 ENSG00000089057 Slc23a2 (MGI:1859682)
chr20 5064876 5113090 20p13 20p13-p12 617019 TMEM230, C20orf30 Transmembrane protein 230 TMEM230 29058 ENSG00000089063 Tmem230 (MGI:1917862)
chr20 5100000 9200000 20p12.3 611738 BMND7 Bone mineral density QTL 7 100188853 most significant association with haplotype C {Osteoporosis}, 166710 (2), Autosomal dominant
chr20 5100000 9200000 20p12.3 612592 CRCS11 Colorectal cancer, susceptibility to, 11 100271692 associated with rs961253 {Colorectal cancer, susceptibility to, 11}, 612592 (2)
chr20 5100000 17900000 20p12 608696 GLC1K, JOAG3 Glaucoma 1K, primary open angle, juvenile-onset GLC1K 574077 between D20S189 and D20S104 Glaucoma 1K, primary open angle, juvenile-onset, 608696 (2)
chr20 5100000 17900000 20p12 610065 SLEB7 Systemic lupus erythematosus, susceptibility to, 7 100188803 {Systemic lupus erythematosus, susceptibility to, 7}, 610065 (2)
chr20 5114952 5126621 20p12 20p12.3 176740 PCNA, ATLD2 Proliferating cell nuclear antigen PCNA 5111 ENSG00000132646 pseudogenes on X and 6; mutation identified in one ATLD2 family ?Ataxia-telangiectasia-like disorder 2, 615919 (3), Autosomal recessive Pcna (MGI:97503)
chr20 5126760 5197886 20p13 20p12.3 603549 CDS2 CDP-diacylglycerol synthase 2 CDS2 8760 ENSG00000101290 Cds2 (MGI:1332236)
chr20 5298851 5316731 20p13 20p12.3 607123 PROKR2, PKR2, GPR73L1, HH3 Prokineticin receptor 2 PROKR2 128674 ENSG00000101292 Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3), Autosomal dominant Prokr2 (MGI:2181363)
chr20 5544433 5611045 20p12.3 20p12.3 614124 GPCPD1, GDE5, KIAA1434 Glycerophosphocholine phosphodiesterase GDE1, S. cerevisiae, homolog of GPCPD1 56261 ENSG00000125772 Gpcpd1 (MGI:104898)
chr20 5911327 5925360 20pter-p12 20p12.3 118920 CHGB, SCG1 Chromogranin B (secretogranin B) CHGB 1114 ENSG00000089199 Chgb (MGI:88395)
chr20 5950651 6000940 20p13-p12.3 20p12.3 608187 MCM8, POF10 Minichromosome maintenance complement component 8 MCM8 84515 ENSG00000125885 mutation identified in 1 POF10 family ?Premature ovarian failure 10, 612885 (3), Autosomal recessive Mcm8 (MGI:1913884)
chr20 6005937 6040052 20p13-p12.3 20p12.3 608188 CRLS1, GCD10, C20orf155 Cardiolipin synthase 1 CRLS1 54675 ENSG00000088766 Crls1 (MGI:1913836)
chr20 6074844 6123608 20p13 20p12.3 607900 KIND1, URP1, C20orf42 Kindlin 1 FERMT1 55612 ENSG00000101311 Kindler syndrome, 173650 (3), Autosomal recessive Fermt1 (MGI:2443583)
chr20 6768097 6780279 20p12 20p12.3 112261 BMP2, BMP2A, BDA2, SSFSC Bone morphogenetic protein-2 BMP2 650 ENSG00000125845 Brachydactyly, type A2, 112600 (3), Autosomal dominant; {HFE hemochromatosis, modifier of}, 235200 (3), Autosomal recessive; Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3), Autosomal dominant Bmp2 (MGI:88177)
chr20 7882983 7940445 20p12 20p12.3 605023 HAO1, GOX1 Hydroxyacid oxidase 1 HAO1 54363 ENSG00000101323 Hao1 (MGI:96011)
chr20 7977352 8019828 20p12.3 20p12.3 616766 TMX4 Thioredoxin-related transmembrane protein 4 TMX4 56255 ENSG00000125827 Tmx4 (MGI:106558)
chr20 8132264 8884899 20p12 20p12.3 607120 PLCB1, KIAA0581, PLCB1A, PLCB1B, EIEE12 Phospholipase C, beta-1 PLCB1 23236 ENSG00000182621 Epileptic encephalopathy, early infantile, 12, 613722 (3), Autosomal recessive Plcb1 (MGI:97613)
chr20 9068709 9480815 20p12 20p12.3-p12.2 600810 PLCB4, ARCND2 Phospholipase C, beta 4 PLCB4 5332 ENSG00000101333 Auriculocondylar syndrome 2, 614669 (3), Autosomal recessive, Autosomal dominant Plcb4 (MGI:107464)
chr20 9514357 9530523 20p12.2 20p12.2 614641 LAMP5, BADLAMP Lysosome-associated membrane protein 5 LAMP5 24141 ENSG00000125869 Lamp5 (MGI:1923411)
chr20 10218797 10307419 20p11.2 20p12.2 600322 SNAP25, CMS18 Synaptosomal-associated protein, 25kD SNAP25 6616 ENSG00000132639 mutation identified in 1 CMS18 patient ?Myasthenic syndrome, congenital, 18, 616330 (3), Autosomal dominant Snap25 (MGI:98331)
chr20 10404779 10434238 20p12 20p12.2 604896 MKKS, HMCS, KMS, MKS, BBS6 McKusick-Kaufman syndrome gene MKKS 8195 ENSG00000125863 Bardet-Biedl syndrome 6, 605231 (3), Autosomal recessive; McKusick-Kaufman syndrome, 236700 (3), Autosomal recessive Mkks (MGI:1891836)
chr20 10435135 10628137 20p12.2 20p12.2 615958 SLX4IP, C20orf94 SLX4-interacting protein SLX4IP 128710 ENSG00000149346 Slx4ip (MGI:1921493)
chr20 10637683 10674045 20p12 20p12.2 601920 JAG1, AGS1, AHD Jagged 1 JAG1 182 ENSG00000101384 mutation identified in 1 DFNCDPE family Alagille syndrome 1, 118450 (3), Autosomal dominant; ?Deafness, congenital heart defects, and posterior embryotoxon (3); Tetralogy of Fallot, 187500 (3), Autosomal dominant Jag1 (MGI:1095416)
chr20 11890722 11926594 20p12.2 20p12.2 615566 BTBD3, KIAA0952 BTB/POZ domain-containing protein 3 BTBD3 22903 ENSG00000132640
chr20 13008953 13169102 20p12.3-p12.1 20p12.1 611120 SPTLC3, SPTLC2L Serine palmitoyltransferase, long-chain base subunit 3 SPTLC3 55304 ENSG00000172296 Sptlc3 (MGI:2444678)
chr20 13104759 13638935 20p12.1 20p12.1 608270 TASP1, C20orf13 Threonine aspartase 1 TASP1 55617 ENSG00000089123 Tasp1 (MGI:1923062)
chr20 13221770 13326733 20p12.1 20p12.1 615793 ISM1, ISM Isthmin 1, angiogenesis inhibitor ISM1 140862 ENSG00000101230 Ism1 (MGI:2442963)
chr20 13785025 13821579 20p12.1 20p12.1 612360 NDUFAF5, C20orf7 NADH dehydrogenase (ubiquinone) complex I, assembly factor T NDUFAF5 79133 ENSG00000101247 Mitochondrial complex 1 deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufaf5 (MGI:1916737)
chr20 13848585 13995332 20p12.1 20p12.1 614289 SEL1L2 Suppressor of Lin12-like 2 SEL1L2 80343 ENSG00000101251
chr20 13995499 16053196 20p12 20p12.1 611567 MACROD2, C2orf133 Macro domain-containing 2 MACROD2 140733 ENSG00000172264 Macrod2 (MGI:1920149)
chr20 14322984 14337846 20p11 20p12.1 604808 FLRT3, HH21 Fibronectin-like domain-containing leucine-rich transmembrane protein-3 FLRT3 23767 ENSG00000125848 Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3), Autosomal dominant Flrt3 (MGI:1918686)
chr20 16729963 16741771 20p12.1 20p12.1 603520 SNRPB2 Small nuclear ribonucleoprotein polypeptide B-double prime SNRPB2 6629 ENSG00000125870 Snrpb2 (MGI:104805)
chr20 16748352 16752163 20p11 20p12.1 606067 OTOR Otoraplin OTOR 56914 ENSG00000125879 Otor (MGI:1888678)
chr20 17226106 17484577 20p11.2 20p12.1 162151 PCSK2, NEC2, PC2 Proprotein convertase subtilisin/kexin type 2 PCSK2 5126 ENSG00000125851 Pcsk2 (MGI:97512)
chr20 17493904 17569219 20p12.1-p11.23 20p12.1 603307 BFSP1, CP115, CTRCT33 Beaded filament structural protein-1 (filensin) BFSP1 631 ENSG00000125864 Cataract 33, multiple types, 611391 (3), Autosomal recessive, Autosomal dominant Bfsp1 (MGI:101770)
chr20 17569172 17608241 20p12.1 20p12.1 609114 DSTN, ADF Destrin DSTN 11034 ENSG00000125868 Dstn (MGI:1929270)
chr20 17613677 17682282 20p12-p11.2 20p12.1 601418 RRBP1, ES130 Ribosome binding protein-1 RRBP1 6238 ENSG00000125844
chr20 17900000 47800000 20p11.2-q13.12 612406 DYT17 Dystonia-17, primary torsion DYT17 100216344 between D20S472 and D20S911 Dystonia-17, primary torsion, 612406 (2), Autosomal recessive
chr20 17941595 17968990 20p11 20p11.23 605937 SNX5 Sorting nexin 5 SNX5 27131 ENSG00000089006 Snx5 (MGI:1916428)
chr20 17968593 17991121 20p11.23 20p11.23 615076 MGME1, C20orf72, MTDPS11 Mitochondrial genome maintenance exonuclease 1 MGME1 92667 ENSG00000125871 Mitochondrial DNA depletion syndrome 11, 615084 (3), Autosomal recessive Mgme1 (MGI:1921778)
chr20 18024151 18059187 20p11.23 20p11.23 616441 OVOL2, ZNF339, PPCD1 ovo-like 2 OVOL2 58495 ENSG00000125850 Corneal dystrophy, posterior polymorphous, 1, 122000 (3), Autosomal dominant Ovol2 (MGI:1338039)
chr20 18137854 18143168 20p11.23 20p11.23 614771 PET117 PET117, S. cerevisiae, homolog of PET117 100303755 ENSG00000232838 Pet117 (MGI:5295678)
chr20 18142223 18188386 20p11.23 20p11.23 617501 KAT14, CRP2BP, CSRP2BP, ATAC2 Lysine acetyltransferase 14 KAT14 57325 ENSG00000149474 Kat14 (MGI:1917264)
chr20 18288227 18316995 20p11.2 20p11.23 604075 ZNF133 Zinc finger protein-133 ZNF133 7692 ENSG00000125846
chr20 18467388 18484647 20p11.23 20p11.23 617455 POLR3F, RPC39, RPC6 Polymerase III, RNA, subunit F POLR3F 10621 ENSG00000132664 Polr3f (MGI:1924086)
chr20 18486539 18497249 20p11.2 20p11.23 602908 RBBP9, BOG Retinoma-binding protein 9 RBBP9 10741 ENSG00000089050 Rbbp9 (MGI:1347074)
chr20 18507481 18561414 20p11.2 20p11.23 610512 SEC23B, CDAN2, HEMPAS, CWS7 Sec23, S. cerevisiae, homolog of, B SEC23B 10483 ENSG00000101310 Cowden syndrome 7, 616858 (3), Autosomal dominant; Dyserythropoietic anemia, congenital, type II, 224100 (3), Autosomal recessive Sec23b (MGI:1350925)
chr20 18587892 18763916 20p11 20p11.23 610996 DTD1, C20orf88 D-tyrosyl-tRNA deacylase 1, S. cerevisiae, homolog of DTD1 92675 ENSG00000125821 Dtd1 (MGI:1913294)
chr20 19212645 19722896 20p13 20p11.23 609839 SLC24A3, NCKX3 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 SLC24A3 57419 ENSG00000185052 Slc24a3 (MGI:2137513)
chr20 19757609 20002458 20p11.22 20p11.23 610222 RIN2, MACS RAS and RAB interactor 2 RIN2 54453 ENSG00000132669 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3), Autosomal recessive Rin2 (MGI:1921280)
chr20 20017289 20033628 20p11.2 20p11.23 610833 NAT5, NAT3 N-acetyltransferase 5 NAA20 51126 ENSG00000173418 Naa20 (MGI:1915127)
chr20 20034360 20056045 20p11.2 20p11.23 610952 CRNKL1, CRN Crooked neck pre-mRNA splicing factor-like 1 CRNKL1 51340 ENSG00000101343 Crnkl1 (MGI:1914127)
chr20 20368120 20370948 20p11.2 20p11.23 600010 INSM1, IA1 Insulinoma-associated 1 INSM1 3642 ENSG00000173404 Insm1 (MGI:1859980)
chr20 21087603 21106357 20p11.23 20p11.23 614992 LINC00237 Long intergenic noncoding RNA 237 LINC00237 105372556
chr20 21125974 21246621 20p11.23 20p11.23 615757 KIZ, KIZUNA, C20orf19, RP69 Kizuna centrosomal protein KIZ 55857 ENSG00000088970 Retinitis pigmentosa 69, 615780 (3), Autosomal recessive Kiz (MGI:2684960)
chr20 21300000 22300000 20p11.22 612421 AGA3 Alopecia, androgenetic, 3 100217387 associated with rs1160312 Alopecia, androgenetic, 3, 612421 (2)
chr20 21303283 21389824 20p11.2-p11.1 20p11.22 608851 XRN2 Exoribonuclease 2 XRN2 22803 ENSG00000088930 Xrn2 (MGI:894687)
chr20 21395366 21397408 20p11 20p11.22 607808 NKX2-4, NKX2D NK2 homeobox 4 NKX2-4 644524 ENSG00000125816 Nkx2-4 (MGI:97349)
chr20 21511009 21514025 20p11 20p11.22 604612 NKX2-2, NKX2B NK2, homeobox 2 NKX2-2 4821 ENSG00000125820 Nkx2-2 (MGI:97347)
chr20 21705658 21718485 20p11.2 20p11.22 167411 PAX1, OFC2 Paired box homeotic gene-1 PAX1 5075 ENSG00000125813 mutation identified in 1 family ?Otofaciocervical syndrome 2, 615560 (3), Autosomal recessive Pax1 (MGI:97485)
chr20 22581003 22585462 20p11 20p11.21 600288 FOXA2, HNF3B Forkhead box A2 (hepatic nuclear factor-3, beta) FOXA2 3170 ENSG00000125798 Foxa2 (MGI:1347476)
chr20 23035419 23036676 20p11.2 20p11.21 182454 SSTR4 Somatostatin receptor-4 SSTR4 6754 ENSG00000132671 Sstr4 (MGI:105372)
chr20 23045632 23049663 20p11.2 20p11.21 188040 THBD, THRM, AHUS6, THPH12 Thrombomodulin THBD 7056 ENSG00000178726 {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3), Autosomal dominant; Thrombophilia due to thrombomodulin defect, 614486 (3) Thbd (MGI:98736)
chr20 23076553 23086829 20p11.21 20p11.21 120577 C1QR1, CD93, C1QR Complement component 1, q subcomponent, receptor 1 CD93 22918 ENSG00000125810 Cd93 (MGI:106664)
chr20 23350735 23354771 20p12-p11.2 20p11.21 605811 NXT1, MTR2 NTF2-related export protein 1 NXT1 29107 ENSG00000132661 Nxt1 (MGI:1929619)
chr20 23361584 23375398 20p11.21 20p11.21 613842 GZF1, ZNF336, JLSM GDNF-inducible zinc finger protein 1 GZF1 64412 ENSG00000125812 Joint laxity, short stature, and myopia, 617662 (3), Autosomal recessive Gzf1 (MGI:1921783)
chr20 23374518 23421518 20p11.21 20p11.21 611270 NAPB, SNAPB N-ethylmaleimide-sensitive factor attachment protein, beta NAPB 63908 ENSG00000125814 Napb (MGI:104562)
chr20 23450403 23452844 20p11.21 20p11.21 609731 CST11, CST8L Cystatin 11 CST11 140880 ENSG00000125831 Cst11 (MGI:1925490)
chr20 23564731 23568748 20p11.2 20p11.21 616536 CST9L Cystatin 9-like CST9L 128821 ENSG00000101435 Cst9 (MGI:1340053)
chr20 23602409 23605972 20p11.2 20p11.21 616543 CST9, CLM Cystatin 9 CST9 128822 ENSG00000173335
chr20 23627896 23638047 20p11.2 20p11.21 604312 CST3, ARMD11 Cystatin C CST3 1471 ENSG00000101439 proximal to 20p11.2 Cerebral amyloid angiopathy, 105150 (3), Autosomal dominant; {Macular degeneration, age-related, 11}, 611953 (3) Cst3 (MGI:102519)
chr20 23685639 23689024 20p11.2 20p11.21 123857 CST4 Cystatin S CST4 1472 ENSG00000101441
chr20 23747552 23750936 20p11.2 20p11.21 123855 CST1 Cystatin SN CST1 1469 ENSG00000170373
chr20 23823766 23826674 20p11.2 20p11.21 123856 CST2 Cystatin SA CST2 1470 ENSG00000170369
chr20 23875934 23879742 20p11.21 20p11.21 123858 CST5 Cystatin D CST5 1473 ENSG00000170367 Cst10 (MGI:1930004)
chr20 23985052 23989133 20p11.1 20p11.21 612338 GGTLC1, GGTL6, GGTLA4 Gamma-glutamyltransferase, light chain 1 GGTLC1 92086 ENSG00000149435
chr20 24469198 24666616 20p11.21 20p11.21 614311 SYNDIG1, TMEM90B Synapse differentiation-induced gene 1 SYNDIG1 79953 ENSG00000101463 Syndig1 (MGI:3702158)
chr20 24949229 24959927 20p11.2 20p11.21 603253 CST7, CMAP Cystatin 7 CST7 8530 ENSG00000077984 Cst7 (MGI:1298217)
chr20 24962924 24992929 20p11.2 20p11.21 615884 APMAP, C20orf3, BSCV Adipocyte plasma membrane-associated protein APMAP 57136 ENSG00000101474 Apmap (MGI:1919131)
chr20 25006229 25058181 20p11.23-p11.21 20p11.21 614355 ACSS1, ACECS1 Acyl-CoA synthetase short-chain family, member 1 ACSS1 84532 ENSG00000154930 Acss1 (MGI:1915988)
chr20 25069939 25082378 20p11.2 20p11.21 605020 VSX1, RINX, KTCN1, CAASDS Visual system homeo box gene 1, zebrafish, homolog of VSX1 30813 ENSG00000100987 mutation identified in 1 CAASDS family ?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3); Keratoconus 1, 148300 (3), Autosomal dominant Vsx1 (MGI:1890816)
chr20 25195669 25228074 20q11.2 20p11.21 603160 ENTPD6, CD39L2 Ectonucleoside triphosphate diphosphohydrolase 6 ENTPD6 955 ENSG00000197586 Entpd6 (MGI:1202295)
chr20 25248038 25298011 20p11.2-p11.1 20p11.21 138550 PYGB Phosphorylase, glycogen, brain PYGB 5834 ENSG00000100994 Pygb (MGI:97828)
chr20 25294742 25390981 20p11.21 20p11.21 613599 ABHD12, PHARC Abhydrolase domain-containing protein 12 ABHD12 26090 ENSG00000100997 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3), Autosomal recessive Abhd12 (MGI:1923442)
chr20 25407469 25448567 20p11.21 20p11.21 610608 GINS1, PSF1, KIAA0186, IMD55 GINS complex subunit 1 GINS1 9837 ENSG00000101003 Immunodeficiency 55, 617827 (3), Autosomal recessive Gins1 (MGI:1916520)
chr20 25612934 25624011 20p11 20p11.21 610763 NANP, HDHD4 N-acetylneuraminic acid phosphatase NANP 140838 ENSG00000170191 Nanp (MGI:1914561)
chr20 28100000 64444167 20q11-q13 610261 HYT5 Hypertension, essential, susceptibility to, 5 100188807 {Hypertension, essential, susceptibility to, 5}, 145500 (2), Multifactorial
chr20 28100000 64444167 20q11-q13 617352 MBCS Mulchandani-Bhoj-Conlin syndrome maternal uniparental disomy of imprinted region Mulchandani-Bhoj-Conlin syndrome, 617352 (3)
chr20 28100000 64444167 20q11-q13 608029 SCAR6, CLA3 Spinocerebellar ataxia, autosomal recessive 6 CLA3 1167 between D20S471 and D20S119 Spinocerebellar ataxia, autosomal recessive 6, 608029 (2), Autosomal recessive
chr20 30400000 39000000 20q11.2 612263 CMM7 Melanoma, cutaneous malignant, susceptibility to, 7 100190932 between rs910873 and rs1885120 {Melanoma, cutaneous malignant, 7}, 612263 (2)
chr20 30400000 43100000 20q11.2-q12 601308 MLRL, MTS Myeloid leukemia-related locus (myeloid tumor suppressor) 8201
chr20 31368617 31373922 20q11 20q11.21 607650 DEFB118, C20orf63, ESC42 Defensin, beta, 118 DEFB118 117285 ENSG00000131068
chr20 31377162 31390648 20q11.1 20q11.21 615997 DEFB119, DEFB120, DEFB20 Defensin, beta, 119 DEFB119 245932 ENSG00000180483 Defb19 (MGI:2385955)
chr20 31404844 31418521 20q11.1 20q11.21 616075 DEFB121, DEFB21 Defensin, beta, 121 DEFB121 245934 ENSG00000204548
chr20 31421438 31429179 20q11.1 20q11.21 616077 DEFB122, DEFB22 Defensin, beta, 122, pseudogene DEFB122 245935
chr20 31440518 31450256 20q11.1 20q11.21 616076 DEFB123, DEFB23 Defensin, beta, 123 DEFB123 245936 ENSG00000180424
chr20 31475272 31484904 20q11.21 20q11.21 610388 REM1, GES RRAD- and GEM-like GTPase 1 REM1 28954 ENSG00000088320 Rem1 (MGI:1097696)
chr20 31514409 31569566 20q11.21 20q11.21 607106 HM13, SPP Minor histocompatibility 13 (signal peptide peptidase) HM13 81502 ENSG00000101294 H13 (MGI:95886)
chr20 31605282 31606514 20q11 20q11.21 600349 ID1 Inhibitor of DNA binding 1, dominant negative ID1 3397 ENSG00000125968 Id1 (MGI:96396)
chr20 31637855 31645008 20q11.21 20q11.21 607976 COX4I2 Cytochrome c oxidase, subunit IV, isoform 2 COX4I2 84701 ENSG00000131055 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3), Autosomal recessive Cox4i2 (MGI:2135755)
chr20 31664451 31723998 20q11.21 20q11.21 600039 BCL2L1, BCLX, BCLXL, BCLXS BCL2-like 1 BCL2L1 598 ENSG00000171552 Bcl2l1 (MGI:88139)
chr20 31739100 31801801 20q11.2 20q11.21 605917 C20orf1, P100 Proliferation-associated nuclear protein, 100kD TPX2 22974 ENSG00000088325 Tpx2 (MGI:1919369)
chr20 31819374 31834696 20q13.3 20q11.21 606566 MYLK2, MLCK Myosin light chain kinase 2 MYLK2 85366 ENSG00000101306 Cardiomyopathy, hypertrophic, 1, digenic, 192600 (3), Autosomal dominant Mylk2 (MGI:2139434)
chr20 31844299 31845616 20q11.1-q11.2 20q11.21 602939 FOXS1, FKHL18, FREAC10 Forkhead box S1 FOXS1 2307 ENSG00000179772 Foxs1 (MGI:95546)
chr20 31845577 31870743 20q11.21 20q11.21 616776 DUSP15, VHY Dual-specificity phosphatase 15 DUSP15 128853 ENSG00000149599 Dusp15 (MGI:1934928)
chr20 31944954 31952079 20q11 20q11.21 610789 PDRG1, PDRG, C20orf126 P53 and DNA damage-regulated 1 PDRG1 81572 ENSG00000088356 Pdrg1 (MGI:1915809)
chr20 32052187 32101855 20q11-q12 20q11.21 142370 HCK Hemopoietic cell kinase HCK 3055 ENSG00000101336 Hck (MGI:96052)
chr20 32109505 32167257 20q11.21 20q11.21 617727 TM9SF4, KIAA0255 Transmembrane 9 superfamily, member 4 TM9SF4 9777 ENSG00000101337 Tm9sf4 (MGI:2139220)
chr20 32192503 32207742 20q11.21 20q11.21 604866 PLAGL2 Pleomorphic adenoma gene-like 2 PLAGL2 5326 ENSG00000126003 Plagl2 (MGI:1933165)
chr20 32207888 32238663 20q11.21 20q11.21 607491 POFUT1, OFUCT1, KIAA0180, DDD2 Protein O-fucosyltransferase 1 POFUT1 23509 ENSG00000101346 Dowling-Degos disease 2, 615327 (3), Autosomal dominant Pofut1 (MGI:2153207)
chr20 32277650 32335010 20q11.21 20q11.21 603754 KIF3B, KIAA0359 Kinesin family member 3B KIF3B 9371 ENSG00000101350 Kif3b (MGI:107688)
chr20 32358061 32439318 20q11.21 20q11.21 612990 ASXL1, KIAA0978, BOPS, MDS Additional sex combs-like 1 ASXL1 171023 ENSG00000171456 Bohring-Opitz syndrome, 605039 (3), Autosomal dominant; Myelodysplastic syndrome, somatic, 614286 (3) Asxl1 (MGI:2684063)
chr20 32702690 32744007 20q11.21 20q11.21 616703 COMMD7 COMM domain-containing protein 7 COMMD7 149951 ENSG00000149600 Commd7 (MGI:1914197)
chr20 32762384 32809355 20q11.2 20q11.21 602900 DNMT3B, ICF1 DNA methyltransferase 3B DNMT3B 1789 ENSG00000088305 Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3), Autosomal recessive Dnmt3b (MGI:1261819)
chr20 32819779 32850404 20q11.1-q11.23 20q11.21 603108 MAPRE1, EB1 Microtubule-associated protein, RP/EB family, member 1 MAPRE1 22919 ENSG00000101367 Mapre1 (MGI:891995)
chr20 32983772 33004448 20q11.2 20q11.21 613942 SUN5, TSARG4, SPAG4L, SPGF16 Sad1 and Unc84 domain-containing protein 5 SUN5 140732 ENSG00000167098 Spermatogenic failure 16, 617187 (3), Autosomal recessive Sun5 (MGI:1923657)
chr20 33007577 33023708 20q11 20q11.21 614108 BPIFB2, BPIL1 BPI fold-containing protein, family B, member 2 BPIFB2 80341 ENSG00000078898 Bpifb2 (MGI:1913807)
chr20 33031647 33044107 20q11 20q11.21 614110 BPIFB6, BPIL3 BPI fold-containing protein, family B, member 6 BPIFB6 128859 ENSG00000167104 Bpifb6 (MGI:2684965)
chr20 33055330 33073636 20q11.21 20q11.21 615717 BPIFBP3, RYA3 BPI fold-containing protein, family B, member 3 BPIFB3 359710 ENSG00000186190 Bpifb3 (MGI:2675077)
chr20 33081511 33111750 20q11.21 20q11.21 615718 BPIFB4, RY2G5 BPI fold-containing protein, family B, member 4 BPIFB4 149954 ENSG00000186191 Bpifb4 (MGI:2685852)
chr20 33193604 33210461 20q11.21 20q11.21 607627 BASE Breast cancer- and salivary gland-expressed gene BPIFA4P 317716
chr20 33235995 33243308 20q11 20q11.21 607412 BPIFA1, PLUNC, SPLUNC1 BPI fold-containing protein, family A, member 1 BPIFA1 51297 ENSG00000198183 Bpifa1 (MGI:1338036)
chr20 33358838 33403029 20q11.2 20q11.21 608200 CDK5RAP1 CDK5 regulatory subunit-associated protein 1 CDK5RAP1 51654 ENSG00000101391 Cdk5rap1 (MGI:1914221)
chr20 33407956 33443891 20q11.2 20q11.21 601017 SNTA1, SNT1, TACIP1, LQT12 Syntrophin, alpha-1 SNTA1 6640 ENSG00000101400 Long QT syndrome 12, 612955 (3), Autosomal dominant Snta1 (MGI:101772)
chr20 33490069 33650030 20q11.2 20q11.21-q11.22 603672 CBFA2T2, MTGR1, EHT Core-binding factor, runt domain, alpha subunit 2, translocated to, 2 (ETO homolog on chromosome 20) CBFA2T2 9139 ENSG00000078699 Cbfa2t2 (MGI:1333833)
chr20 33500000 35800000 20q11.22 612228 STQTL14 Stature quantitative trait locus 14 100270797 associated with rs6060373 {Stature QTL 14}, 612228 (2)
chr20 33657086 33674457 20q11.22 20q11.22 612478 NECAB3, EFCBP3, NIP1, APBA2BP, XB51, STIP3 N-terminal EF-hand calcium-binding protein 3 NECAB3 63941 ENSG00000125967 Necab3 (MGI:1861721)
chr20 33675485 33686403 20q11.2 20q11.22 189971 E2F1 E2F transcription factor-1 E2F1 1869 ENSG00000101412 E2f1 (MGI:101941)
chr20 33702743 33720329 20q11.22 20q11.22 616397 PXMP4, PMP24 Peroxisomal membrane protein 4 PXMP4 11264 ENSG00000101417 Pxmp4 (MGI:1891701)
chr20 33811303 33854366 20q11.21 20q11.22 610897 CHMP4B, SNF7, CTPP3, CTRCT31 CHMP family, member 4B CHMP4B 128866 ENSG00000101421 Cataract 31, multiple types, 605387 (3), Autosomal dominant Chmp4b (MGI:1922858)
chr20 34186492 34269343 20q11.2 20q11.22 600201 ASIP, AGTIL, SHEP9 Agouti, mouse, signaling protein ASIP 434 ENSG00000101440 [Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742 (3); [Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3) a (MGI:87853)
chr20 34235011 34311975 20cen-q13.1 20q11.22 180960 AHCY, SAHH S-adenosylhomocysteine hydrolase AHCY 191 ENSG00000101444 ~13cM from ADA Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3), Autosomal recessive Ahcy (MGI:87968)
chr20 34363234 34511772 20q11.22-q11.23 20q11.22 606409 ITCH, AIP4, NAPP1, ADMFD Itchy, mouse, homolog of ITCH 83737 ENSG00000078747 Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3), Autosomal recessive Itch (MGI:1202301)
chr20 34516383 34540957 20q12-q13.11 20q11.22 607167 DYNLRB1, DNCL2A, DNLC2A Dynein, light chain, roadblock type, 1 DYNLRB1 83658 ENSG00000125971 Dynlrb1 (MGI:1914318)
chr20 34546822 34560344 20cen-q13 20q11.22 601242 MAP1ALC3, MAP1BLC3 Microtubule-associated proteins 1A and 1B, light chain 3 MAP1LC3A 84557 ENSG00000101460 Map1lc3a (MGI:1915661)
chr20 34560541 34677284 20q11.22 20q11.22 608528 PIGU, CDC91L1 Phosphatidylinositol glycan anchor biosynthesis class U protein PIGU 128869 ENSG00000101464 Pigu (MGI:3039607)
chr20 34704307 34713438 20q11.2 20q11.22 617549 TP53INP2, PIGU, DOR, C20orf110 Tumor protein p53-inducible nuclear protein 2 TP53INP2 58476 ENSG00000078804 Trp53inp2 (MGI:1915978)
chr20 34714773 34825648 20q11 20q11.22 605299 NCOA6, ASC2, RAP250, NRC, PRIP Nuclear receptor coactivator 6 NCOA6 23054 ENSG00000198646
chr20 34844719 34872857 20q11.2 20q11.22 612342 GGT7, GGTL3, GGTL5, GGT4 Gamma-glutamyltransferase 7 GGT7 2686 ENSG00000131067 Ggt7 (MGI:1913385)
chr20 34874941 34927965 20q11.22 20q11.22 605832 ACSS2, ACS Acetyl-CoA synthetase short-chain family member 2 ACSS2 55902 ENSG00000131069 Acss2 (MGI:1890410)
chr20 34928432 34956026 20q11.2 20q11.22 601002 GSS, GSHS Glutathione synthetase GSS 2937 ENSG00000100983 Glutathione synthetase deficiency, 266130 (3), Autosomal recessive; Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3), Autosomal recessive Gss (MGI:95852)
chr20 34955834 35002436 20q11.22 20q11.22 609928 MYH7B, MYH14, KIAA1512 Myosin, heavy chain 7B, cardiac muscle, beta MYH7B 57644 ENSG00000078814 Myh7b (MGI:3710243)
chr20 34990375 34990496 20q11.22 20q11.22 613614 MIR499, MIRN499 Micro RNA 499 MIR499A 574501
chr20 35002403 35092834 20q11.23 20q11.22 608430 TRPC4AP, TRUSS TRPC4-associated protein TRPC4AP 26133 ENSG00000100991 Trpc4ap (MGI:1930751)
chr20 35115356 35147357 20q11.22 20q11.22 610302 EDEM2 Endoplasmic reticulum degradation-enhancing alpha-mannosidase-like protein 2 EDEM2 55741 ENSG00000088298 Edem2 (MGI:1915540)
chr20 35171936 35215988 20q11.2 20q11.22 600646 PROCR, EPCR, CCCA, CCD41 Protein C receptor PROCR 10544 ENSG00000101000 Procr (MGI:104596)
chr20 35226735 35277000 20q11.2 20q11.22 604871 MMP25 Matrix metalloproteinase 24 MMP24 10893 ENSG00000125966 Mmp24 (MGI:1341867)
chr20 35278905 35284815 20q11.2 20q11.22 602912 EIF6, EIF3A, ITGB4BP Eukaryotic translation initiation factor 6 EIF6 3692 ENSG00000242372 Eif6 (MGI:1196288)
chr20 35302565 35412141 20q11.22 20q11.22 611797 UQCC, CBP3, BFZB, C20orf44 Ubiquinol-cytochrome C reductase complex chaperone UQCC1 55245 ENSG00000101019 Uqcc1 (MGI:1929472)
chr20 35433346 35454745 20q11.2 20q11.22 601146 GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B Growth/differentiation factor-5 (cartilage-derived morphogenetic protein-1) GDF5 8200 ENSG00000125965 mutation identified in 1 AMDHT family ?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3), Autosomal recessive; Brachydactyly, type A1, C, 615072 (3), Autosomal recessive, Autosomal dominant; Brachydactyly, type A2, 112600 (3), Autosomal dominant; Brachydactyly, type C, 113100 (3), Autosomal dominant; Chondrodysplasia, Grebe type, 200700 (3), Autosomal recessive; Du Pan syndrome, 228900 (3), Autosomal recessive; Multiple synostoses syndrome 2, 610017 (3), Autosomal dominant; {Osteoarthritis-5}, 612400 (3); Symphalangism, proximal, 1B, 615298 (3) Gdf5 (MGI:95688)
chr20 35455136 35517530 20q11.2 20q11.22 609689 CEP2, CEP250, CNAP1 Centrosomal protein 2 CEP250 11190 ENSG00000126001 Cep250 (MGI:108084)
chr20 35542028 35557633 20q11.22 20q11.22 616971 ERGIC3, C2orf47 Endoplasmic reticulum-golgi intermediate compartment protein 3 ERGIC3 51614 ENSG00000125991 Ergic3 (MGI:1913616)
chr20 35615855 35621093 20q11.2 20q11.22 603038 SPAG4 Sperm-associated antigen-4 SPAG4 6676 ENSG00000061656 Spag4 (MGI:2444120)
chr20 35626030 35664955 20q11.22 20q11.22 604205 CPNE1, CPN1 Copine I CPNE1 8904 ENSG00000214078 Cpne1 (MGI:2386621)
chr20 35648924 35664955 20q11.2 20q11.22 607179 RBM12, KIAA0765, SCZD19 RNA-binding motif protein 12 RBM12 10137 ENSG00000244462 {Schizophrenia 19, susceptibility to}, 617629 (3), Autosomal dominant Rbm12 (MGI:1922960)
chr20 35668687 35699364 20q11.22 20q11.22 603485 NFS1, NIFS Nitrogen fixation gene 1 NFS1 9054 ENSG00000244005 Nfs1 (MGI:1316706)
chr20 35703608 35742335 20q11.22 20q11.22 604739 RBM39, CAPER, RNPC2 RNA binding motif protein 39 RBM39 9584 ENSG00000131051 Rbm39 (MGI:2157953)
chr20 35772000 35950371 20q11.1-q11.23 20q11.22-q11.23 610335 PHF20, GLEA2, HCA58 PHD finger protein 20 PHF20 51230 ENSG00000025293 Phf20 (MGI:2444148)
chr20 35953616 35955358 20q11.23 20q11.23 610416 SCAND1, RAZ1, SDP1 SCAN domain-containing 1 SCAND1 51282 ENSG00000171222 Scand1 (MGI:1343132)
chr20 36045617 36050959 20q11.23 20q11.23 617037 NORAD, LINC00657 Noncoding RNA activated by DNA damage NORAD 647979
chr20 36064890 36232798 20q11.2-q12 20q11.23 602879 EPB41L1, MRD11 Erythrocyte membrane protein band 4.1-like 1 EPB41L1 2036 ENSG00000088367 mutation identified in 1 patient ?Mental retardation, autosomal dominant 11, 614257 (3) Epb41l1 (MGI:103010)
chr20 36236135 36256940 20q11.23 20q11.23 617365 AAR2, C20orf4 Aar2 splicing factor, S. cerevisiae, homolog of AAR2 25980 ENSG00000131043 Aar2 (MGI:1915545)
chr20 36306322 36528636 20q11.23 20q11.23 616191 DLGAP4, SAPAP4, KIAA0964 Discs LARGE-associated protein 4 DLGAP4 22839 ENSG00000080845 noncoding RNAs transcribed from intron 1 are expressed in all tissues Dlgap4 (MGI:2138865)
chr20 36541483 36549822 20q11.23 20q11.23 609905 MYL9, MLC2 Myosin light chain 9, regulatory MYL9 10398 ENSG00000101335 Myl9 (MGI:2138915)
chr20 36573472 36593951 20q11.2-q12 20q11.23 607294 TGIF2 Transforming growth factor-beta-induced factor 2 TGIF2 60436 ENSG00000118707 Tgif2 (MGI:1915299)
chr20 36612518 36646215 20q11.23 20q11.23 606577 SLA2, SLAP2 SRC-like adaptor 2 SLA2 84174 ENSG00000101082 Sla2 (MGI:1925049)
chr20 36651765 36746137 20q11.21-q11.23 20q11.23 605273 NDRG3 N-myc downstream-regulated gene 3 NDRG3 57446 ENSG00000101079 Ndrg3 (MGI:1352499)
chr20 36751790 36773826 20q11.23 20q11.23 609175 DSN1, C20orf172 DSN1 homolog, MIS12 kinetochore complex component DSN1 79980 ENSG00000149636 Dsn1 (MGI:1914184)
chr20 36890881 36951842 20q11.2 20q11.23 606754 SAMHD1, AGS5, DCIP, CHBL2 SAM domain- and HD domain-containing protein 1 SAMHD1 25939 ENSG00000101347 mutation identified in 1 CHBL2 family Aicardi-Goutieres syndrome 5, 612952 (3), Autosomal recessive; ?Chilblain lupus 2, 614415 (3), Autosomal dominant Samhd1 (MGI:1927468)
chr20 36996348 37096214 20q11.2 20q11.23 116957 RBL1, CP107 Retinoblastoma-like 1 (p107) RBL1 5933 ENSG00000080839 Rbl1 (MGI:103300)
chr20 37179045 37241622 20q12-q13.1 20q11.23 180490 RPN2 Ribophorin II RPN2 6185 ENSG00000118705 Rpn2 (MGI:98085)
chr20 37251085 37261816 20q11.2 20q11.23 139190 GHRH, GHRF Growth hormone releasing hormone (somatocrinin) GHRH 2691 ENSG00000118702 Gigantism due to GHRF hypersecretion (1); ?Isolated growth hormone deficiency due to defect in GHRF (1) Ghrh (MGI:95709)
chr20 37344684 37405431 20q12-q13 20q11.23 190090 SRC, ASV, SRC1, THC6 Protooncogene SRC, Rous sarcoma SRC 6714 ENSG00000197122 mutation identified in 1 THC6 family Colon cancer, advanced, somatic, 114500 (3); ?Thrombocytopenia 6, 616937 (3), Autosomal dominant Src (MGI:98397)
chr20 37517416 37527930 20q11.2-q12 20q11.23 613110 BLCAP, BC10 Bladder cancer-associated protein BLCAP 10904 ENSG00000166619 Blcap (MGI:1858907)
chr20 37521205 37523689 20q11.2-q12 20q11.23 603106 NNAT Neuronatin NNAT 4826 ENSG00000053438 Nnat (MGI:104716)
chr20 37693954 37872128 20q11.2-q12 20q11.23 611537 CTNNBL1, NAP Catenin, beta-like, 1 CTNNBL1 56259 ENSG00000132792 Ctnnbl1 (MGI:1913892)
chr20 37903096 37945349 20q11.23 20q11.23 616537 VSTM2L, C20orf102 V-SET and transmembrane domains-containing protein 2-like VSTM2L 128434 ENSG00000132821 Vstm2l (MGI:2685537)
chr20 37983006 38033467 20q11.23 20q11.23 614425 TTI1, KIAA0406 TELO2-interacting protein 1 TTI1 9675 ENSG00000101407 Tti1 (MGI:1922675)
chr20 38033461 38092365 20q11.23 20q11.23 614694 RPRD1B, CREPT Regulation of nuclear pre-mRNA domain-containing protein 1B RPRD1B 58490 ENSG00000101413 Rprd1b (MGI:1917720)
chr20 38127386 38166577 20q11.2-q12 20q11.23 190196 TGM2 Transglutaminase-2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) TGM2 7052 ENSG00000198959 Tgm2 (MGI:98731)
chr20 38304149 38337504 20q11.23-q12 20q11.23 109195 BPI Bactericidal/permeability-increasing protein BPI 671 ENSG00000101425 Bpi (MGI:3045315)
chr20 38346410 38377010 20q11.23-q12 20q11.23 151990 LBP Lipopolysaccharide-binding protein LBP 3929 ENSG00000129988 Lbp (MGI:1098776)
chr20 38581194 38588462 20q11.23 20q11.23 611396 ADIG, SMAF1 Adipogenin ADIG 149685 ENSG00000182035
chr20 38724461 38729371 20q11.23 20q11.23 616440 SLC32A1, VGAT, VIAAT Solute carrier family 32 (GABA vesicular transporter), member 1 SLC32A1 140679 ENSG00000101438 Slc32a1 (MGI:1194488)
chr20 38805692 38923023 20q11.22-q12 20q11.23 613275 PPP1R16B, TIMAP, KIAA0823 Protein phosphatase 1, regulatory subunit 16B PPP1R16B 26051 ENSG00000101445 Ppp1r16b (MGI:2151841)
chr20 39000000 51200000 20q12-q13.1 603694 NIDDM3 Noninsulin-dependent diabetes mellitus 3 50982 {Diabetes mellitus, noninsulin-dependent}, 125853 (2), Autosomal dominant
chr20 39000000 47800000 20q12-q13.12 613938 PSMNSW Parasomnia, sleepwalking type 100653383 between 55.6 and 61.4 cM Parasomnia, sleepwalking type, 613938 (2), Autosomal dominant, Multifactorial
chr20 40004460 40008528 20q11.23 20q12 617038 LINC01370, HILNC25 Long intergenic noncoding RNA 1370 LINC01370 100505663
chr20 40685847 40689239 20q11.2-q13.1 20q12 608968 MAFB, KRML, MCTO, DURS3 v-MAF musculoaponeurotic fibrosarcoma oncogene family, protein B MAFB 9935 ENSG00000204103 Duane retraction syndrome 3, 617041 (3), Autosomal dominant; Multicentric carpotarsal osteolysis syndrome, 166300 (3), Autosomal dominant Mafb (MGI:104555)
chr20 41028817 41124486 20q12-q13.1 20q12 126420 TOP1 Topoisomerase (DNA) I TOP1 7150 ENSG00000198900 pseudogenes on chr.1 and 22 DNA topoisomerase I, camptothecin-resistant (3) Top1 (MGI:98788)
chr20 41137518 41175720 20q12-q13.1 20q12 172420 PLCG1, PLC1 Phospholipase C, gamma 1 (formerly subtype 148) PLCG1 5335 ENSG00000124181 Plcg1 (MGI:97615)
chr20 41178448 41317639 20q12 20q12 609598 ZHX3, KIAA0395 Zinc finger and homeodomain protein-3 ZHX3 23051 ENSG00000174306 Zhx3 (MGI:2444772)
chr20 41340778 41360584 20q 20q12 605520 LPIN3 Lipin 3 LPIN3 64900 ENSG00000132793 Lpin3 (MGI:1891342)
chr20 41402100 41618493 20q11.23-q12 20q12 616114 CHD6, CHD5, RIGB Chromodomain helicase DNA-binding protein 6 CHD6 84181 ENSG00000124177 Chd6 (MGI:1918639)
chr20 42029958 43189916 20q12-q13.1 20q12-q13 608712 PTPRT, KIAA0283 Protein-tyrosine phosphatase, receptor-type, T PTPRT 11122 ENSG00000196090 Ptprt (MGI:1321152)
chr20 43100000 64444167 20q13 608878 GEVQ2 Gene expression, variation in, quantitative trait locus on chromosome 20 474333 {Gene expression, variation in, QTL}, 608878 (2)
chr20 43100000 43500000 20q13.11 603388 GRD2 Graves disease, susceptibility to, 2 50976 {Graves disease, susceptibility to, 2}, 603388 (2)
chr20 43100000 64444167 20q13 608656 HPC3 Prostate cancer, hereditary, 3 408259 {Prostate cancer, susceptibility to, 3}, 176807 (2), Autosomal dominant
chr20 43100000 64444167 20q13 612566 IBD24 Inflammatory bowel disease 24 100270798 associated with rs2315008 and rs4809330 {Inflammatory bowel disease 24}, 612566 (2)
chr20 43100000 64444167 20q13 612950 PSORS12 Psoriasis susceptibility 12 associated with rs495337 {Psoriasis susceptibility 12}, 612950 (2)
chr20 43100000 64444167 20q13 610066 SLEB8 Systemic lupus erythematosus, susceptibility to, 8 100188804 {Systemic lupus erythematosus, susceptibility to, 8}, 610066 (2)
chr20 43457863 43463604 20q13.11 20q13.11 601944 SRSF6, SFRS6, SRp55 Splicing factor, serine/arginine-rich, 6 SRSF6 6431 ENSG00000124193 Srsf6 (MGI:1915246)
chr20 43507679 43541894 20q12 20q13.12 608802 L3MBTL, L3MBTL1, KIAA0681 L3MBT-like L3MBTL1 26013 ENSG00000185513 L3mbtl1 (MGI:2676663)
chr20 43558994 43585632 20q13.2 20q13.12 607589 SGK2 Serum/glucocorticoid-regulated kinase 2 SGK2 10110 ENSG00000101049 Sgk2 (MGI:1351318)
chr20 43590612 43647295 20q13.12 20q13.12 617094 IFT52 Intraflagellar transport 52, Chlamydomonas, homolog of IFT52 51098 ENSG00000101052 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3), Autosomal recessive Ift52 (MGI:2387217)
chr20 43667018 43716495 20q13.1 20q13.12 601415 MYBL2, BMYB v-myb avian myeloblastosis viral oncogene homolog-like 2 MYBL2 4605 ENSG00000101057 Mybl2 (MGI:101785)
chr20 43914851 44069615 20q13.12 20q13.12 611163 TOX2, GCX1, C20orf100 TOX high mobility group box family member 2 TOX2 84969 ENSG00000124191 Tox2 (MGI:3611233)
chr20 44111696 44187945 20q12 20q13.12 605267 JPH2, JP2, CMH17 Junctophilin 2 JPH2 57158 ENSG00000149596 Cardiomyopathy, hypertrophic, 17, 613873 (3), Autosomal dominant Jph2 (MGI:1891496)
chr20 44302837 44311251 20q13.12 20q13.12 612029 FIT2, C20orf142 Fat-inducing transcript 2 FITM2 128486 ENSG00000197296 Fitm2 (MGI:2444508)
chr20 44355800 44432844 20q12-q13.1 20q13.12 600281 HNF4A, TCF14, MODY1, FRTS4 Hepatocyte nuclear factor 4, alpha (transcription factor-14) HNF4A 3172 ENSG00000101076 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3), Autosomal dominant; MODY, type I, 125850 (3), Autosomal dominant Hnf4a (MGI:109128)
chr20 44496220 44522115 20q13.1-q13.3 20q13.12 607165 SERINC3, TDE1 Serine incorporator 3 SERINC3 10955 ENSG00000132824 Serinc3 (MGI:1349457)
chr20 44531780 44619036 20q 20q13.12 604932 PKIG Protein kinase, cAMP-dependent catalytic, inhibitor gamma PKIG 11142 ENSG00000168734 Pkig (MGI:1343086)
chr20 44619518 44651757 20q13.11 20q13.12 608958 ADA Adenosine deaminase ADA 100 ENSG00000196839 Adenosine deaminase deficiency, partial, 102700 (3), Autosomal recessive, Somatic mosaicism; Severe combined immunodeficiency due to ADA deficiency, 102700 (3), Autosomal recessive, Somatic mosaicism Ada (MGI:87916)
chr20 44714203 44728040 20q12-q13 20q13.12 603399 WISP2 Wnt-1 inducible signaling pathway protein 2 WISP2 8839 ENSG00000064205 Wisp2 (MGI:1328326)
chr20 44745604 44752312 20q12-q13 20q13.12 607368 KCNK15, TASK5 Potassium channel, subfamily K, member 15 KCNK15 60598 ENSG00000124249 Kcnk15 (MGI:2675209)
chr20 44751803 44810337 20q13.3 20q13.12 611601 RIMS4 Protein regulating synaptic membrane exocytosis 4 RIMS4 140730 ENSG00000101098 Rims4 (MGI:2674366)
chr20 44885598 44908531 20q13.1 20q13.12 601289 YWHAB Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide YWHAB 7529 ENSG00000166913 Ywhab (MGI:1891917)
chr20 44942129 44960472 20q13.12 20q13.12 616049 TOMM34, TOM34 Translocase of outer mitochondrial membrane 34, yeast, homolog of TOMM34 10953 ENSG00000025772 Tomm34 (MGI:1914395)
chr20 44966469 45079976 20q13.2 20q13.12 604965 STK4, MST1, KRS2, TIIAC Serine/threonine protein kinase 4 STK4 6789 ENSG00000101109 T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3) Stk4 (MGI:1929004)
chr20 45091213 45101111 20q13.12 20q13.12 602905 KCNS1, KV9.1 Potassium channel, voltage-gated, delayed-rectifier, subfamily S, member 1 KCNS1 3787 ENSG00000124134 Kcns1 (MGI:1197019)
chr20 45109451 45116320 20q12-q13.2 20q13.12 605161 WFDC5, PRG5, WAP1 WAP 4-disulfide core domain 5 WFDC5 149708 ENSG00000175121 Wfdc5 (MGI:2384800)
chr20 45123425 45124464 20q12-q13.1 20q13.12 609872 WFDC12, WAP2, SWAM2 Wap 4-disulfide core domain 12 WFDC12 128488 ENSG00000168703
chr20 45174898 45176543 20q12-q13 20q13.12 182257 PI3 Protease inhibitor 3, skin derived (SKALP) PI3 5266 ENSG00000124102
chr20 45206963 45209772 20q12-q13.1 20q13.12 182140 SEMG1, SEMG Semenogelin SEMG1 6406 ENSG00000124233
chr20 45221368 45224457 20q12-q13.1 20q13.12 182141 SEMG2 Semenogelin II SEMG2 6407 ENSG00000124157
chr20 45252238 45254563 20q13.12 20q13.12 107285 SLPI, HUSI Secretory leukocyte protease inhibitor SLPI 6590 ENSG00000124107 Slpi (MGI:109297)
chr20 45293445 45308565 20q13.1-q13.2 20q13.12 603897 MATN4 Matrilin 4 MATN4 8785 ENSG00000124159 Matn4 (MGI:1328314)
chr20 45306835 45319676 20q13.12 20q13.12 616104 RBPJL, RBPL, SUHL RBPJ-like protein RBPJL 11317 ENSG00000124232 Rbpjl (MGI:1196616)
chr20 45325287 45348423 20q12-q13 20q13.12 600017 SDC4 Syndecan 4 (amphiglycan, ryudocan) SDC4 6385 ENSG00000124145 Sdc4 (MGI:1349164)
chr20 45361936 45376801 20q13.12 20q13.12 612979 SYS1 Sys1 golgi-localized integral membrane protein, S. cerevisiae, homolog of SYS1 90196 ENSG00000204070 Sys1 (MGI:1913710)
chr20 45373879 45378549 20q13.12 20q13.12 617316 TP53TG5 TP53 target gene 5 TP53TG5 27296 ENSG00000124251 Trp53tg5 (MGI:1920853)
chr20 45405992 45410609 20q12 20q13.12 611453 DBNDD2, HSMNP1 Dysbindin domain-containing 2 DBNDD2 55861 ENSG00000244274 Dbndd2 (MGI:106562)
chr20 45416066 45426244 20q13.12 20q13.12 610272 PIGT, NDAP, PNH2, MCAHS3 Phosphatidylinositol glycan, class T PIGT 51604 ENSG00000124155 mutation identified in 1 PNH2 family Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3), Autosomal recessive; ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3), Autosomal dominant, Somatic mutation Pigt (MGI:1926178)
chr20 45469753 45481531 20q13.12 20q13.12 617548 WFDC2, HE4, WAP5 WAP 4-disulfide core domain 2 WFDC2 10406 ENSG00000101443 Wfdc2 (MGI:1914951)
chr20 45512460 45515623 20q12-q13.1 20q13.12 613941 SPINT3 Serin protease inhibitor, Kunitz-type, 3 SPINT3 10816 ENSG00000101446
chr20 45540625 45547425 20q13.2 20q13.12 609031 SPINLW1, EPPIN, WAP7 Serine protease inhibitor-like protein with Kunitz and WAP domains 1 EPPIN 57119 ENSG00000101448 Wfdc6a (MGI:2684968)
chr20 45791936 45811426 20q13.12 20q13.12 611388 DNTTIP1, TDIF1, C20orf167 Deoxynucleotidyltransferase, terminal, interacting protein 1 DNTTIP1 116092 ENSG00000101457 Dnttip1 (MGI:1923483)
chr20 45812575 45816956 20q13.12 20q13.12 605574 UBE2C, UBCH10 Ubiquitin-conjugating enzyme E2C UBE2C 11065 ENSG00000175063 Ube2c (MGI:1915862)
chr20 45823213 45833328 20q12-q13.11 20q13.12 191039 TNNC2 Troponin C2, fast TNNC2 7125 ENSG00000101470 Tnnc2 (MGI:98780)
chr20 45841720 45857408 20q13.1 20q13.12 608123 ACOT8, PTE1 Acyl-CoA thioesterase 8 ACOT8 10005 ENSG00000101473 Acot8 (MGI:2158201)
chr20 45890143 45898819 20q13.1 20q13.12 613111 CTSA, PPGB, GSL, NGBE, GLB2 Cathepsin A (protective protein for beta-galactosidase) CTSA 5476 ENSG00000064601 Galactosialidosis, 256540 (3), Autosomal recessive Ctsa (MGI:97748)
chr20 45898619 45912363 20q12-q13.1 20q13.12 172425 PLTP, HDLCQ9 Phospholipid transfer protein PLTP 5360 ENSG00000100979 [High density lipoprotein cholesterol level QTL 9] (3) Pltp (MGI:103151)
chr20 45948652 45972909 20q11.2-q13.1 20q13.12 610827 ZNF335, NIF1, NIF2, MCPH10 Zinc finger protein 335 ZNF335 63925 ENSG00000198026 mutation identified in 1 MCPH10 family ?Microcephaly 10, primary, autosomal recessive, 615095 (3), Autosomal recessive Zfp335 (MGI:2682313)
chr20 46008907 46016560 20q11.2-q13.1 20q13.12 120361 MMP9, CLG4B, MANDP2 Matrix metalloproteinase 9 (gelatinase B, 92kD type IV collagenase) MMP9 4318 ENSG00000100985 Metaphyseal anadysplasia 2, 613073 (3) Mmp9 (MGI:97011)
chr20 46021689 46060149 20q12-q13.1 20q13.12 606726 SLC12A5, KCC2, KIAA1176, EIEE34, EIG14 Solute carrier family 12, (potassium-chloride transporter) member 5 SLC12A5 57468 ENSG00000124140 {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive Slc12a5 (MGI:1862037)
chr20 46060984 46089940 20q13.1 20q13.12 616825 NCOA5, CIA Nuclear receptor coactivator 5 NCOA5 57727 ENSG00000124160 Ncoa5 (MGI:2385165)
chr20 46118241 46129744 20q12-q13.2 20q13.12 109535 CD40, TNFRSF5 CD40 antigen CD40 958 ENSG00000101017 Immunodeficiency with hyper-IgM, type 3, 606843 (3), Autosomal recessive Cd40 (MGI:88336)
chr20 46173732 46308497 20q13.1 20q13.12 609920 CDH22 Cadherin 22 CDH22 64405 ENSG00000149654 Cdh22 (MGI:1341843)
chr20 46366044 46407050 20q13 20q13.12 606421 ELMO2, CED12, VMPI Engulfment and cell motility gene 2 ELMO2 63916 ENSG00000062598 Vascular malformation, primary intraosseous, 606893 (3), Autosomal recessive Elmo2 (MGI:2153045)
chr20 46557822 46684484 20q12-q13.1 20q13.12 606411 SLC13A3, NADC3 Solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 SLC13A3 64849 ENSG00000158296 Slc13a3 (MGI:2149635)
chr20 46684364 46689636 20q13.12 20q13.12 608679 TP53RK, PRPK, GAMOS4 TP53-regulating kinase TP53RK 112858 ENSG00000172315 Galloway-Mowat syndrome 4, 617730 (3), Autosomal recessive Trp53rkb,Trp53rka (MGI:1918294,MGI:1914050)
chr20 46708357 46736346 20q13.1 20q13.12 606145 SLC2A10, GLUT10, ATS Solute carrier family 2 (facilitated glucose transporter), member 10 SLC2A10 81031 ENSG00000197496 Arterial tortuosity syndrome, 208050 (3), Autosomal recessive Slc2a10 (MGI:2156687)
chr20 46894623 47188843 20q13.1 20q13.12 601654 EYA2 Eyes absent, Drosophila, homolog of, 2 EYA2 2139 ENSG00000064655 Eya2 (MGI:109341)
chr20 47209213 47357779 20q13.12 20q13.12 615713 ZMYND8, PRKCBP1 Zinc finger MYND domain-containing protein 8 ZMYND8 23613 ENSG00000101040 Zmynd8 (MGI:1918025)
chr20 47501856 47656876 20q12 20q13.12 601937 NCOA3, AIB1, TNRC14 Nuclear receptor coactivator 3 (amplified in breast cancer-1) NCOA3 8202 ENSG00000124151 Ncoa3 (MGI:1276535)
chr20 47654568 47786615 20q13.12 20q13.12 610013 SULF2, KIAA1247 Sulfatase 2 SULF2 55959 ENSG00000196562 Sulf2 (MGI:1919293)
chr20 48624251 48827882 20q13.13 20q13.13 606905 PREX1, KIAA1415 Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 PREX1 57580 ENSG00000124126 Prex1 (MGI:3040696)
chr20 48921720 49036692 20q13.13 20q13.13 605371 ARFGEF2, BIG2, PVNH2 ADP-ribosylation factor guanine nucleotide-exchange factor 2, brefeldin A-inhibited ARFGEF2 10564 ENSG00000124198 Periventricular heterotopia with microcephaly, 608097 (3), Autosomal recessive Arfgef2 (MGI:2139354)
chr20 49046245 49096959 20q13 20q13.13 601342 CSE1L, CAS Chromosome segregation-1, yeast, homolog of, like CSE1L 1434 ENSG00000124207 Cse1l (MGI:1339951)
chr20 49113338 49219294 20q13.1 20q13.13 601716 STAU1, STAU Staufen, Drosophila, homolog of, 1 STAU1 6780 ENSG00000124214 Stau1 (MGI:1338864)
chr20 49219294 49244076 20q13.13 20q13.13 616621 DDX27, RHLP DEAD box polypeptide 27 DDX27 55661 ENSG00000124228 Ddx27 (MGI:2385884)
chr20 49363876 49484032 20q13.2 20q13.13 600397 KCNB1, EIEE26 Potassium voltage-gated channel, Shab-related subfamily, member 1 KCNB1 3745 ENSG00000158445 Epileptic encephalopathy, early infantile, 26, 616056 (3), Autosomal dominant Kcnb1 (MGI:96666)
chr20 49503873 49568169 20q13.11-q13.13 20q13.13 601699 PTGIS, CYP8A1, PGIS, CYP8 Prostaglandin I2 synthase PTGIS 5740 ENSG00000124212 Hypertension, essential, 145500 (3), Multifactorial Ptgis (MGI:1097156)
chr20 49632944 49713883 20q13.1-q13.2 20q13.13 604016 B4GALT5 Beta-1,4-galactosyltransferase 5 B4GALT5 9334 ENSG00000158470 previously mapped to chr.11 B4galt5 (MGI:1927169)
chr20 49812712 49892241 20q13.13 20q13.13 612730 SLC9A8, NHE8, KIAA0939 Solute carrier family 9 (sodium/hydrogen exchanger), member 8 SLC9A8 23315 ENSG00000197818 Slc9a8 (MGI:1924281)
chr20 49903390 49915542 20q13.1-q13.2 20q13.13 607662 SPATA2, KIAA0757 Spermatogenesis-associated protein 2 SPATA2 9825 ENSG00000158480 Spata2 (MGI:2146885)
chr20 49936376 49953884 20q13 20q13.13 612451 RNF114, ZNF313 Ring finger protein 114 RNF114 55905 ENSG00000124226 Rnf114 (MGI:1933159)
chr20 49982975 49988885 20q13.1 20q13.13 604238 SNAI1 Snail 1, Drosophila, homolog of SNAI1 6615 ENSG00000124216 pseudogene on 2q34 Snai1 (MGI:98330)
chr20 50081123 50115958 20q13.2 20q13.13 602995 UBE2V1, UEV1 Ubiquitin-conjugating enzyme E2 variant 1 UBE2V1 7335 ENSG00000244687 Ube2v1 (MGI:1913839)
chr20 50123736 50153797 20q13.2 20q13.13 610994 TMEM189, KUA Transmembrane protein 189 TMEM189 387521 ENSG00000240849 Tmem189 (MGI:2142624)
chr20 50190582 50192689 20q13.1 20q13.13 189965 CEBPB, TCF5 CCAAT/enhancer-binding protein (C/EBP), beta (transcription factor-5) CEBPB 1051 ENSG00000172216 Cebpb (MGI:88373)
chr20 50510320 50584761 20q13.1-q13.2 20q13.13 176885 PTPN1, PTP1B Protein tyrosine phosphatase, nonreceptor-type, 1 PTPN1 5770 ENSG00000196396 20pter-q12 by REa {Insulin resistance, susceptibility to}, 125853 (3), Autosomal dominant Ptpn1 (MGI:97805)
chr20 50731543 50753740 20q13.13 20q13.13 608975 PARD6B Partitioning-defective protein 6, C. elegans, homolog of, beta PARD6B 84612 ENSG00000124171 Pard6b (MGI:2135605)
chr20 50794893 50877735 20q13.13 20q13.13 607471 BCAS4 Breast carcinoma amplified sequence 4 BCAS4 55653 ENSG00000124243
chr20 50888917 50931212 20q13.13 20q13.13 611386 ADNP, ADNP1, KIAA0784, HVDAS, MRD28 Activity-dependent neuroprotector homeobox ADNP 23394 ENSG00000101126 Helsmoortel-van der Aa syndrome, 615873 (3), Autosomal dominant Adnp (MGI:1338758)
chr20 50934854 50958563 20q13.13 20q13.13 603503 DPM1, MPDS, CDGIE Dolichyl-phosphate mannosyltransferase 1, catalytic subunit DPM1 8813 ENSG00000000419 Congenital disorder of glycosylation, type Ie, 608799 (3), Autosomal recessive Dpm1 (MGI:1330239)
chr20 51003655 51023175 20q13 20q13.13 603788 KCNG1, KH2 Potassium voltage-gated channel, subfamily G, member 1 KCNG1 3755 ENSG00000026559 Kcng1 (MGI:3616086)
chr20 51200000 64444167 20q13.2-q13.3 610248 DFNB65 Deafness, autosomal recessive 65 DFNB65 692219 max lod at D20S840 Deafness, autosomal recessive 65, 610248 (2), Autosomal recessive
chr20 51200000 64444167 20q13.2-q13.3 130180 EEGV1, EEGL Electroencephalographic variant pattern 1 EEGV1 1940
chr20 51386956 51562856 20q13.2-q13.3 20q13.2 600490 NFATC2, NFATP Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 2 NFATC2 4773 ENSG00000101096 Nfatc2 (MGI:102463)
chr20 51782716 51802522 20q13.13-q13.2 20q13.2 607343 SALL4, HSAL4 sal-like 4 SALL4 57167 ENSG00000101115 Duane-radial ray syndrome, 607323 (3), Autosomal dominant; IVIC syndrome, 147750 (3), Autosomal dominant Sall4 (MGI:2139360)
chr20 52972308 53495329 20q13.2 20q13.2 614118 TSHZ2 Teashirt zinc finger homeobox 2 TSHZ2 128553 ENSG00000182463 Tshz2 (MGI:2153084)
chr20 53567064 53608968 20q13.2 20q13.2 602967 ZNF217 Zinc finger protein-217 ZNF217 7764 ENSG00000171940 Zfp217 (MGI:2685408)
chr20 53943537 54070764 20q13.2 20q13.2 602968 BCAS1, NABC1 Breast carcinoma amplified sequence BCAS1 8537 ENSG00000064787 Bcas1 (MGI:1924210)
chr20 54145730 54174031 20q13.2-q13.3 20q13.2 126065 CYP24A1, CYP24, HCINF1 Cytochrome P450, family 24, subfamily A, polypeptide 1 (vitamin D 24-hydroxylase) CYP24A1 1591 ENSG00000019186 Hypercalcemia, infantile, 1, 143880 (3), Autosomal recessive Cyp24a1 (MGI:88593)
chr20 54207962 54219952 20q13.2 20q13.2 604898 PFDN4, C1 Prefoldin 4 PFDN4 5203 ENSG00000101132 Pfdn4 (MGI:1923512)
chr20 54475471 54651170 20q13.2 20q13.2 608334 DOK5 Docking protein 5 DOK5 55816 ENSG00000101134 Dok5 (MGI:1924079)
chr20 55997356 56005471 20q13.2 20q13.2 615029 CBLN4 Precerebellin 4 CBLN4 140689 ENSG00000054803 Cbln4 (MGI:2154433)
chr20 56248731 56249814 20q13.2 20q13.2 155540 MC3R, BMIQ9 Melanocortin-3 receptor MC3R 4159 ENSG00000124089 {Mycobacterium tuberculosis, protection against}, 607948 (3); {Obesity, severe, susceptibility to, BMIQ9}, 602025 (3) Mc3r (MGI:96929)
chr20 56369388 56392336 20q13.2-q13.3 20q13.2 603072 AURKA, STK15, AURORA2, BTAK, ARK1, STK6, AIK Aurora kinase A AURKA 6790 ENSG00000087586 {Colon cancer, susceptibility to}, 114500 (3), Autosomal dominant Aurka (MGI:894678)
chr20 56392370 56404525 20q13.2 20q13.2-q13.3 600369 CSTF1 Cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD CSTF1 1477 ENSG00000101138 Cstf1 (MGI:1914587)
chr20 56400000 64444167 20q13.31-q13.33 612929 MTBS3 Mycobacterium tuberculosis, susceptibility to, 3 100302686 associated with rs3827103 {Mycobacterium tuberculosis, susceptibility to, 3}, 612929 (2)
chr20 56629301 56639282 20q13.2 20q13.31 601602 TFAP2C Transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma) TFAP2C 7022 ENSG00000087510 Tfap2c (MGI:106032)
chr20 57168752 57266650 20q13.1-q13.3 20q13.31 112267 BMP7 Bone morphogenetic protein-7 (osteogenic protein-1) BMP7 655 ENSG00000101144 Bmp7 (MGI:103302)
chr20 57329756 57343992 20q13.2-q13.3 20q13.31 605114 SPO11 Spo11, S. cerevisiae, homolog of SPO11 23626 ENSG00000054796 Spo11 (MGI:1349669)
chr20 57391397 57409332 20q13.31 20q13.31 612428 RBM38, RNPC1 RNA-binding motif protein 38 RBM38 55544 ENSG00000132819 Rbm38 (MGI:1889294)
chr20 57495964 57525651 20q13.2 20q13.31 607022 CTCFL, BORIS CCCTC-binding factor-like protein CTCFL 140690 ENSG00000124092 Ctcfl (MGI:3652571)
chr20 57561080 57566460 20q13.31 20q13.31 614168 PCK1, PCKDC Phosphoenolpyruvate carboxykinase-1 (soluble) PCK1 5105 ENSG00000124253 mutation identified in 1 PCKDC family ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3), Autosomal recessive Pck1 (MGI:97501)
chr20 57603845 57620575 20q13.31 20q13.31 606750 ZBP1, C20orf183, DLM1 Z-DNA binding protein 1 (tumor stroma and activated macrophage protein DLM1) ZBP1 81030 ENSG00000124256 Zbp1 (MGI:1927449)
chr20 57648391 57711535 20q13 20q13.31 606564 PMEPA1, TMEPAI Prostate transmembrane protein, androgen-induced PMEPA1 56937 ENSG00000124225 Pmepa1 (MGI:1929600)
chr20 58309714 58367506 20q13.3 20q13.32 612966 RAB22A Ras-associated protein RAB22A RAB22A 57403 ENSG00000124209 Rab22a (MGI:105072)
chr20 58389118 58451100 20q13.3 20q13.32 605704 VAPB, VAPC, ALS8 Vesicle-associated membrane protein-associated protein B VAPB 9217 ENSG00000124164 Amyotrophic lateral sclerosis 8, 608627 (3), Autosomal dominant; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3), Autosomal dominant Vapb (MGI:1928744)
chr20 58651252 58679525 20q13.32 20q13.32 603666 STX16, SYN16 Syntaxin 16 STX16 8675 ENSG00000124222 Pseudohypoparathyroidism, type IB, 603233 (3), Autosomal dominant Stx16 (MGI:1923396)
chr20 58817614 58817693 20q13.3 20q13.32 610945 MIR296, MIRN296 Micro RNA 296 MIR296 407022
chr20 58818225 58818312 20q13.32 20q13.32 614914 MIR298 Micro RNA 298 MIR298 100126296
chr20 58818917 58850902 20q13.2 20q13.32 610540 GNASAS1, GNASAS, SANG, NESPAS GNAS antisense RNA 1 GNAS-AS1 149775 Pseudohypoparathyroidism, type IB, 603233 (3), Autosomal dominant
chr20 58839680 58911195 20q13.2 20q13.32 139320 GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C, PITA3 GNAS complex locus (guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1) GNAS 2778 ENSG00000087460 ACTH-independent macronodular adrenal hyperplasia, 219080 (3), Isolated cases; McCune-Albright syndrome, somatic, mosaic, 174800 (3); Osseous heteroplasia, progressive, 166350 (3), Autosomal dominant; Pituitary adenoma 3, multiple types, somatic, 617686 (3); Pseudohypoparathyroidism Ia, 103580 (3), Autosomal dominant; Pseudohypoparathyroidism Ib, 603233 (3), Autosomal dominant; Pseudohypoparathyroidism Ic, 612462 (3), Autosomal dominant; Pseudopseudohypoparathyroidism, 612463 (3), Autosomal dominant Gnas (MGI:95777)
chr20 58981207 58995132 20q13 20q13.32 605297 TH1L, TH1 TH1, Drosophila, homolog of NELFCD 51497 ENSG00000101158 Nelfcd (MGI:1926424)
chr20 58995186 59007253 20q13 20q13.32 603169 CTSZ Cathepsin Z CTSZ 1522 ENSG00000101160 Ctsz (MGI:1891190)
chr20 59016025 59026653 20q13.3 20q13.32 612901 TUBB1 Tubulin, beta-1 TUBB1 81027 ENSG00000101162 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3), Autosomal dominant Tubb1 (MGI:107814)
chr20 59028677 59032366 20q13.3 20q13.32 606153 ATP5E, MC5DN3 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit ATP5F1E 514 ENSG00000124172 pseudogene on 4q25; mutation identified in 1 MC5DN3 patient ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3)
chr20 59300414 59325991 20q13.2-q13.3 20q13.32 131242 EDN3, WS4B, HSCR4 Endothelin-3 EDN3 1908 ENSG00000124205 Central hypoventilation syndrome, congenital, 209880 (3), Autosomal dominant; {Hirschsprung disease, susceptibility to, 4}, 613712 (3), Autosomal dominant; Waardenburg syndrome, type 4B, 613265 (3), Autosomal recessive, Autosomal dominant Edn3 (MGI:95285)
chr20 59577496 59849828 20q13.32 20q13.32-q13.33 608725 PHACTR3, SCAPININ Phosphatase and actin regulator 3 PHACTR3 116154 ENSG00000087495 Phactr3 (MGI:1921439)
chr20 59700000 64444167 20q13.33 613031 GLM6 Glioma susceptibility 6 100415895 associated with rs6010620 {Glioma susceptibility 6}, 613031 (2)
chr20 59863276 59933699 20q13.33 20q13.33 604105 SYCP2, SCP2 Synaptonemal complex protein 2 SYCP2 10388 ENSG00000196074 Sycp2 (MGI:1933281)
chr20 59936831 59940296 20q13.3 20q13.33 603326 PPP1R3D, PPP1R6 Protein phosphatase 1, regulatory subunit 3D PPP1R3D 5509 ENSG00000132825 Ppp1r3d (MGI:1917664)
chr20 59957763 60037970 20q13.33 20q13.33 617685 CDH26 Cadherin 26 CDH26 60437 ENSG00000124215 Cdh26 (MGI:2685856)
chr20 61252425 61940616 20q13.3 20q13.33 603006 CDH4 Cadherin 4 CDH4 1002 ENSG00000179242 Cdh4 (MGI:99218)
chr20 61974797 62065809 20q13.33 20q13.33 601796 TAF4, TAF2C1, TAFII130, TAF2C TAF4 RNA polymerase II, TATA box-binding protein-associated factor, 135kD TAF4 6874 ENSG00000130699 Taf4 (MGI:2152346)
chr20 62136726 62143457 20q13.33 20q13.33 606607 PSMA7 Proteasome subunit, alpha-type, 7 PSMA7 5688 ENSG00000101182 Psma7 (MGI:1347070)
chr20 62143719 62182509 20q13.3 20q13.33 606472 SS18L1, KIAA0693, CREST SS18-like gene 1 SS18L1 26039 ENSG00000184402 Ss18l1 (MGI:2444061)
chr20 62182745 62203567 20q13.33 20q13.33 610919 GTPBP5, OBGH1 GTP-binding protein 5 MTG2 26164 ENSG00000101181 Mtg2 (MGI:106565)
chr20 62213844 62220266 20q13.33 20q13.33 604525 HRH3, GPCR97 Histamine receptor H3 HRH3 11255 ENSG00000101180 Hrh3 (MGI:2139279)
chr20 62238484 62296212 20q 20q13.33 606731 OSBPL2, ORP2, KIAA0772, DNFA67 Oxysterol-binding protein-like protein 2 OSBPL2 9885 ENSG00000130703 Deafness, autosomal dominant 67, 616340 (3), Autosomal dominant Osbpl2 (MGI:2442832)
chr20 62302060 62308861 20q13.33 20q13.33 610650 ADRM1, ARM1, RPN13 Adhesion-regulating molecule 1 ADRM1 11047 ENSG00000130706 Adrm1 (MGI:1929289)
chr20 62309059 62367317 20q13.2-q13.3 20q13.33 601033 LAMA5 Laminin, alpha-5 LAMA5 3911 ENSG00000130702 Lama5 (MGI:105382)
chr20 62386274 62388519 20q13.3 20q13.33 180477 RPS21 Ribosomal protein S21 RPS21 6227 ENSG00000171858 Rps21 (MGI:1913731)
chr20 62463496 62475969 20q13.2-q13.3 20q13.33 611496 GATA5, CHTD5 GATA-binding protein 5 GATA5 140628 ENSG00000130700 Congenital heart defects, multiple types, 5, 617912 (3), Autosomal recessive, Autosomal dominant Gata5 (MGI:109497)
chr20 62554305 62554375 20q13.33 20q13.33 609326 MIR1-1 Micro RNA 1-1 MIR1-1 406904
chr20 62564911 62565012 20q13.33 20q13.33 610255 MIR133A2 Micro RNA 133A2 MIR133A2 406923
chr20 62642057 62690721 20q13.33 20q13.33 612436 SLCO4A1, OATPE, OATP4A1 Solute carrier organic anion transporter family, member 4A1 SLCO4A1 28231 ENSG00000101187 Slco4a1 (MGI:1351866)
chr20 62708769 62762770 20q13 20q13.33 162651 NTSR1 Neurotensin receptor NTSR1 4923 ENSG00000101188 Ntsr1 (MGI:97386)
chr20 62796404 62801737 20q13.33 20q13.33 611157 MRGBP, C20orf20 MRG/MORF4L-binding protein MRGBP 55257 ENSG00000101189 Mrgbp (MGI:1920497)
chr20 62817061 62841158 20q13.3 20q13.33 120270 COL9A3, EDM3, IDD Collagen IX, alpha-3 polypeptide COL9A3 1299 ENSG00000092758 Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3), Autosomal dominant; {Intervertebral disc disease, susceptibility to}, 603932 (3) Col9a3 (MGI:894686)
chr20 62877737 62937951 20q13.33 20q13.33 604140 DATF1, DIO1 Death-associated transcription factor 1 DIDO1 11083 ENSG00000101191 Dido1 (MGI:1344352)
chr20 62938088 62948474 20q13.33 20q13.33 611625 GID8, C20orf11, TWA1 GID complex, subunit 8 GID8 54994 ENSG00000101193 Gid8 (MGI:1923675)
chr20 62952646 62968596 20q13.3 20q13.33 612107 SLC17A9, C20orf59, POROK8 Solute carrier family 17, member 9 SLC17A9 63910 ENSG00000101194 Porokeratosis 8, disseminated superficial actinic type, 616063 (3), Autosomal dominant Slc17a9 (MGI:1919107)
chr20 63005978 63007034 20q13 20q13.33 609331 BHLHE23, BHLHB4 Basic helix-loop-helix family, member E23 BHLHE23 128408 ENSG00000125533 Bhlhe23 (MGI:2153710)
chr20 63095492 63102318 20q13.33 20q13.33 610557 HAR1B, HAR1R Highly accelerated region gene 1B HAR1B 768097
chr20 63101291 63104385 20q13.33 20q13.33 610556 HAR1A, HAR1F Highly accelerated region gene 1A HAR1A 768096
chr20 63195428 63216185 20q13.33 20q13.33 616529 YTHDF1 YTH N6-methyladenosine RNA-binding protein 1 YTHDF1 54915 ENSG00000149658 Ythdf1 (MGI:1917431)
chr20 63235882 63240506 20q13.3 20q13.33 605737 BIRC7, MLIAP, KIAP, LIVIN Baculoviral IAP repeat-containing protein 7 BIRC7 79444 ENSG00000101197 Birc7 (MGI:2676458)
chr20 63240779 63256405 20q13.33 20q13.33 612873 NKAIN4 Na+/K+ transporting ATPase-interacting 4 NKAIN4 128414 ENSG00000101198 Nkain4 (MGI:1915372)
chr20 63272784 63289792 20q13.33 20q13.33 608377 ARFGAP1 ADP-ribosylation factor GTPase-activating protein 1 ARFGAP1 55738 ENSG00000101199 Arfgap1 (MGI:2183559)
chr20 63343309 63375470 20q13.2-q13.3 20q13.33 118504 CHRNA4, ENFL1 Cholinergic receptor, nicotinic, alpha polypeptide-4 CHRNA4 1137 ENSG00000101204 Epilepsy, nocturnal frontal lobe, 1, 600513 (3), Autosomal dominant; {Nicotine addiction, susceptibility to}, 188890 (3) Chrna4 (MGI:87888)
chr20 63400207 63472676 20q13.3 20q13.33 602235 KCNQ2, EBN1, EIEE7, BFNS1 Potassium voltage-gated channel, KQT-like subfamily, member 2 KCNQ2 3785 ENSG00000075043 Epileptic encephalopathy, early infantile, 7, 613720 (3), Autosomal dominant; Myokymia, 121200 (3), Autosomal dominant; Seizures, benign neonatal, 1, 121200 (3), Autosomal dominant Kcnq2 (MGI:1309503)
chr20 63488011 63499314 20q13 20q13.33 602959 EEF1A2, EIEE33, MRD38 Eukaryotic translation elongation factor-1, alpha-2 EEF1A2 1917 ENSG00000101210 Epileptic encephalopathy, early infantile, 33, 616409 (3), Autosomal dominant; Mental retardation, autosomal dominant 38, 616393 (3), Autosomal dominant Eef1a2 (MGI:1096317)
chr20 63528412 63537369 20q13.3 20q13.33 602004 PTK6, BRK Protein-tyrosine kinase 6 PTK6 5753 ENSG00000101213 Ptk6 (MGI:99683)
chr20 63539923 63547503 20q13.33 20q13.33 617797 SRMS, C20orf148 Src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites SRMS 6725 ENSG00000125508 Srms (MGI:101865)
chr20 63558085 63574238 20q13.3 20q13.33 611265 PRIC285, PDIP1, KIAA1769 Peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285kD subunit HELZ2 85441 ENSG00000130589 Helz2 (MGI:2385169)
chr20 63587593 63627100 20q13.33 20q13.33 607451 GMEB2, KIAA1269 Glucocorticoid modulatory element-binding protein 2 GMEB2 26205 ENSG00000101216 Gmeb2 (MGI:2652836)
chr20 63639704 63653609 20q13.3 20q13.33 608362 STMN3, SCLIP Stathmin-like 3 STMN3 50861 ENSG00000197457 Stmn3 (MGI:1277137)
chr20 63657809 63696252 20q13.3 20q13.33 608833 RTEL1, C20orf41, NHL, KIAA1088, DKCB5, DKCA4, PFBMFT3 Regulator of telomere elongation helicase 1 RTEL1 51750 ENSG00000258366 Dyskeratosis congenita, autosomal dominant 4, 615190 (3), Autosomal recessive, Autosomal dominant; Dyskeratosis congenita, autosomal recessive 5, 615190 (3), Autosomal recessive, Autosomal dominant; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3), Autosomal dominant Rtel1 (MGI:2139369)
chr20 63696650 63698697 20q13 20q13.33 603361 TNFRSF6B, DCR3 Tumor necrosis factor receptor superfamily, member 6b (decoy receptor 3) TNFRSF6B 8771 ENSG00000243509
chr20 63698641 63708012 20q13.33 20q13.33 604699 ARFRP1, ARP ADP-ribosylation factor-related protein 1 ARFRP1 10139 ENSG00000101246 Arfrp1 (MGI:1923938)
chr20 63735700 63739106 20q13.3 20q13.33 609809 LIME1, LIME LCK-interacting transmembrane adaptor 1 LIME1 54923 ENSG00000203896 Lime1 (MGI:1919949)
chr20 63743667 63832331 20q13.33 20q13.33 614639 ZBTB46, BZEL Zinc finger- and BTB domain-containing protein 46 ZBTB46 140685 ENSG00000130584 Zbtb46 (MGI:1919397)
chr20 63865227 63891544 20q13.2-q13.3 20q13.33 603747 TPD52L2 Tumor protein D52-like 2 TPD52L2 7165 ENSG00000101150 Tpd52l2 (MGI:1913564)
chr20 63895101 63936030 20q13.33 20q13.33 611203 DNAJC5, DNAJC5A, CSP, CLN4B DNAJ/HSP40 homolog, subfamily C, member 5 DNAJC5 80331 ENSG00000101152 Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 (3), Autosomal dominant Dnajc5 (MGI:892995)
chr20 63939828 63956446 20q13.33 20q13.33 610866 UCKL1, UCK1L, URKL1 Uridine/cytidine kinase-like 1 UCKL1 54963 ENSG00000198276 Uckl1 (MGI:1915806)
chr20 63956702 63969869 20q13.33 20q13.33 617886 ZNF512B, KIAA1196 Zinc finger protein 512B ZNF512B 57473 ENSG00000196700 Zfp512b (MGI:2685478)
chr20 63981077 64033099 20q13.33 20q13.33 613979 PRPF6, PRP6, ANT1, TOM, C20orf14 Precursor mRNA-processing factor 6, S. cerevisiae, homolog of PRPF6 24148 ENSG00000101161 Retinitis pigmentosa 60, 613983 (3), Autosomal dominant Prpf6 (MGI:1922946)
chr20 64047725 64049625 20q13.33 20q13.33 601618 SOX18, HLTS, HLTRS SOX18, mouse, homolog of SOX18 54345 ENSG00000203883 Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3), Autosomal recessive; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3), Autosomal dominant Sox18 (MGI:103559)
chr20 64073180 64080003 20q13.3 20q13.33 605071 RGS19, GAIP Regulator of G protein signaling 19 RGS19 10287 ENSG00000171700 Rgs19 (MGI:1915153)
chr20 64080081 64100642 20q13.33 20q13.33 602548 OPRL1, NOP Opioid receptor-like 1 OPRL1 4987 ENSG00000125510 Oprl1 (MGI:97440)
chr20 64105829 64106830 20q13.3 20q13.33 600731 GPR8 G protein-coupled receptor-8 NPBWR2 2832 ENSG00000125522 related sequence on 14
chr20 64164473 64242252 20q13.3 20q13.33 600379 MYT1, PLPB1 Myelin transcription factor 1 MYT1 4661 ENSG00000196132 Myt1 (MGI:1100535)
chr20 0 64444167 Chr.20 151310 HTL, LEUT, HLT Leucine transport, high HTL 3343
chr21 0 15000000 21p13-q11 610838 AUTS12 Autism, susceptibility to, 12 100188314 max lod at D21S1437 {Autism susceptibility 12}, 610838 (2)
chr21 3100000 7000000 21p12 180453 RNR4 Ribosomal RNA-4 RNR4 6055
chr21 7000000 10900000 21p11.2 605167 BAGE1, BAGE BAGE family, member 1 BAGE 574 previously assigned to chr.13
chr21 7000000 10900000 21p11.2 617777 BAGE3 BAGE family, member 3 BAGE3 85318
chr21 10413531 10491614 21p11.2 21p11.2 617776 BAGE2 BAGE family, member 2 BAGE2 85319
chr21 10521513 10606269 21p 21p11.2 604336 TPTE Transmembrane phosphatase with tensin homology TPTE 7179 ENSG00000274391
chr21 13000000 15000000 21q11.2 609039 NRCLP3 Narcolepsy 3 494446 max lod at D21S1245 Narcolepsy 3, 609039 (2), Autosomal dominant
chr21 13000000 15000000 21q11.2 617937 RBM11 RNA-binding motif protein 11
chr21 13000000 15000000 21q11.2 159595 TAM, MST Myeloproliferative syndrome, transient (transient abnormal myelopoiesis) 8205 Leukemia, transient, of Down syndrome, 159595 (2)
chr21 13610080 13641584 21q11.2 21q11.2 607549 POTED, ANKRD21, POTE POTE ankyrin domain family, member D POTED 317754 ENSG00000166351
chr21 14108812 14210952 21q11.2 21q11.2 609252 LIPI, LPDL, PRED5 Lipase I LIPI 149998 ENSG00000188992 {Hypertriglyceridemia, susceptibility to}, 145750 (3), Autosomal dominant Lipi (MGI:2443868)
chr21 14273798 14301385 21q11.2 21q11.2 608835 ABCC13 ATP-binding cassette, subfamily C, member 13 ABCC13 150000
chr21 14371114 14383187 21q11.1 21q11.2 601100 STCH Stress 70 protein chaperone, microsome-associated, p60 HSPA13 6782 ENSG00000155304 Hspa13 (MGI:1309463)
chr21 14485227 14583401 21q11.2 21q11.2 607978 SAMSN1, HACS1 SAM domain, SH3 domain, and nuclear localization signals 1 SAMSN1 64092 ENSG00000155307 Samsn1 (MGI:1914992)
chr21 14961234 15065902 21q11 21q11.2-q21.1 602490 NRIP1, RIP140 Nuclear receptor interacting protein 1 (receptor interacting protein 140) NRIP1 8204 ENSG00000180530 Nrip1 (MGI:1315213)
chr21 15000000 30200000 21q21 602097 USH1E Usher syndrome-1E, autosomal recessive, severe USH1E 7396 Usher syndrome, type 1E, 602097 (2), Autosomal recessive
chr21 16070487 16631726 21q21.1 21q21.1 615964 MIR99AHG, MONC, LINC00478 MIR99A-LET7C cluster host gene, noncoding MIR99AHG 388815
chr21 16539088 16539168 21q21.1 21q21.1 614509 MIR99A Micro RNA 99A MIR99A 407055
chr21 16539827 16539910 21q21.1 21q21.1 612144 MIRLET7C, MIRNLET7C, LET7C Micro RNA Let7c MIRLET7C 406885
chr21 16590236 16590324 21q21.1 21q21.1 610105 MIR125B2, MIRN125B2 Micro RNA 125B-2 MIR125B2 406912
chr21 17512905 17636212 21q11.2 21q21.1 602621 CXADR, CAR Coxsackie virus and adenovirus receptor CXADR 1525 ENSG00000154639 pseudogenes on chr.15 and chr.18 Cxadr (MGI:1201679)
chr21 17593649 17612949 21q11.2-q21.1 21q21.1 605674 BTG3, ANA, TOB5 B-cell translocation gene 3 BTG3 10950 ENSG00000154640 Btg3 (MGI:109532)
chr21 17819328 18267370 21q21 21q21.1 607247 CHODL Chondrolectin CHODL 140578 ENSG00000154645 Chodl (MGI:2179069)
chr21 18269106 18403805 21q21 21q21.1 606635 PRSS7, ENTK Protease, serine, 7 (enterokinase) TMPRSS15 5651 ENSG00000154646 Enterokinase deficiency, 226200 (3), Autosomal recessive Tmprss15 (MGI:1197523)
chr21 20998295 21543328 21q21 21q21.1 602040 NCAM2 Cell adhesion molecule, neural, 2 NCAM2 4685 ENSG00000154654 Ncam2 (MGI:97282)
chr21 25573979 25574043 21q21.3 21q21.3 609337 MIR155, BIC, MIRN155 Micro RNA 155 MIR155 406947
chr21 25585655 25607857 21q11.2-q21 21q21.3 611845 MRPL39, MRPL5 Mitochondrial ribosomal protein L39 MRPL39 54148 ENSG00000154719 Mrpl39 (MGI:1351620)
chr21 25607549 25717561 21q21.2 21q21.3 606870 JAM2, VEJAM Junctional adhesion molecule 2 JAM2 58494 ENSG00000154721 Jam2 (MGI:1933820)
chr21 25724479 25735653 21q21.3 21q21.3 603152 ATP5J, ATP5 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6 ATP5PF 522 ENSG00000154723 Atp5j (MGI:107777)
chr21 25734946 25772459 21q21-q22.1 21q21.3 600609 GABPA, E4TF1A GA-binding protein transcription factor, alpha subunit, 60kD GABPA 2551 ENSG00000154727 Gabpa (MGI:95610)
chr21 25880549 26171127 21q21 21q21.3 104760 APP, AAA, CVAP, AD1 Amyloid beta (A4) precursor protein APP 351 ENSG00000142192 proximal to SOD; very distal q21 or boundary with q22 Alzheimer disease 1, familial, 104300 (3), Autosomal dominant; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3), Autosomal dominant App (MGI:88059)
chr21 26393634 26569251 21q21.3 21q21.3 616021 CYYR1AS1, CYYR1-AS1 CYRR1 antisense RNA 1 CYYR1-AS1 100996571
chr21 26466208 26573403 21q21.3 21q21.3 616020 CYYR1 Cysteine/tyrosine-rich protein 1 CYYR1 116159 ENSG00000166265 Cyyr1 (MGI:2152187)
chr21 26836286 26845408 21q21.2 21q21.3 605174 ADAMTS1, METH1 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 1 ADAMTS1 9510 ENSG00000154734 Adamts1 (MGI:109249)
chr21 26917911 26967757 21q21-q22 21q21.3 605007 ADAMTS5, ADAMTS11 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 5 (aggrecanase 2) ADAMTS5 11096 ENSG00000154736 Adamts5 (MGI:1346321)
chr21 28439660 28885372 21q21.3 21q21.3 614553 N6AMT1 N6 adenine-specific DNA methyltransferase 1, putative N6AMT1 29104 ENSG00000156239 N6amt1 (MGI:1915018)
chr21 28928143 28992987 21q22.11 21q21.3 613083 LTN1, RNF160, KIAA0714 Listerin E3 ubiquitin protein ligase 1 LTN1 26046 ENSG00000198862 Ltn1 (MGI:1926163)
chr21 29005758 29019370 21q22.1 21q21.3 617843 RWDD2B, C21orf6 RWD domain-containing protein 2B RWDD2B 10069 ENSG00000156253 Rwdd2b (MGI:1858215)
chr21 29024616 29054487 21q21.3 21q21.3 604735 USP16, UBPM Ubiquitin-specific protease 16 USP16 10600 ENSG00000156256 Usp16 (MGI:1921362)
chr21 29056321 29073796 21q21.3 21q21.3 617786 CCT8, KIAA0002 Chaperonin containing T-complex polypeptide 1, subunit 8 CCT8 10694 ENSG00000156261 Cct8 (MGI:107183)
chr21 29077470 29175888 21q21 21q21.3 611110 TAK1L, C21orf7 TAK1-like MAP3K7CL 56911 ENSG00000156265
chr21 29298794 29361895 21q22.1 21q21.3 602751 BACH1 BTB and CNC homology 1 BACH1 571 ENSG00000156273 Bach1 (MGI:894680)
chr21 29536932 29940051 21q22 21q21.3 138245 GRIK1, GLUR5 Glutamate receptor, ionotropic, kainate 1 GRIK1 2897 ENSG00000171189 Grik1 (MGI:95814)
chr21 30165922 30166652 21q21.3 21q21.3 617005 CLDN17 Claudin 17 CLDN17 26285 ENSG00000156282 Cldn17 (MGI:2652030)
chr21 30200000 46709983 21q22 611515 FEB7 Febrile seizures, familial, 7 FEB7 100049160 max lod at D21S1910 Febrile seizures, familial, 7, 611515 (2)
chr21 30200000 46709983 21q22 609428 TUKLS Tukel syndrome 574049 max lod at D21S1259 Tukel syndrome, 609428 (2), Autosomal recessive
chr21 30214005 30216150 21q22.11 21q22.11 611231 CLDN8 Claudin 8 CLDN8 9073 ENSG00000156284 Cldn8 (MGI:1859286)
chr21 30396073 30396821 21q22.11 21q22.11 608718 KRTAP13-1 Keratin-associated protein 13-1 KRTAP13-1 140258 ENSG00000198390 Krtap13-1 (MGI:2146359)
chr21 30880643 30881554 21q22.11 21q22.11 600064 KRTAP11-1, HACL1 Keratin-associated protein 11-1 KRTAP11-1 337880 ENSG00000182591 Krtap11-1 (MGI:99447)
chr21 31118417 31559976 21q22.1 21q22.11 600687 TIAM1 T-cell lymphoma invasion and metastasis 1 TIAM1 7074 ENSG00000156299 Tiam1 (MGI:103306)
chr21 31659621 31668930 21q22.1 21q22.11 147450 SOD1, ALS1 Superoxide dismutase-1, soluble SOD1 6647 ENSG00000142168 mid q22.1 Amyotrophic lateral sclerosis 1, 105400 (3), Autosomal recessive, Autosomal dominant Sod1 (MGI:98351)
chr21 31668986 31732117 21q22.11 21q22.11 616023 SCAF4, KIAA1172 SR-related C-terminal domain-associated factor 4 SCAF4 57466 ENSG00000156304 Scaf4 (MGI:2146350)
chr21 31873314 32004063 21q22 21q22.11 606532 HUNK Hormonally upregulated NEU-associated kinase HUNK 30811 ENSG00000142149 Hunk (MGI:1347352)
chr21 32291812 32314783 21q22.1 21q22.11 609196 MRAP, FALP, C21orf61, GCCD2, FGD2 Melanocortin 2 receptor accessory protein MRAP 56246 ENSG00000170262 Glucocorticoid deficiency 2, 607398 (3), Autosomal recessive Mrap (MGI:1924287)
chr21 32311018 32393002 21q22.1 21q22.11 608865 URB1, NPA1, C21orf108, KIAA0539 URB1 ribosome biogenesis 1 homolog (S. cerevisiae) URB1 9875 ENSG00000142207 Urb1 (MGI:2146468)
chr21 32574840 32585544 21q22.1 21q22.11 608365 TCP10L T-complex protein 10-like TCP10L 140290 ENSG00000242220
chr21 32599353 32612870 21q22.11 21q22.11 615494 C21orf59, CILD26 Chromosome 21 open reading frame 59 CFAP298 56683 ENSG00000159079 Ciliary dyskinesia, primary, 26, 615500 (3), Autosomal recessive 1110004E09Rik (MGI:1915251)
chr21 32628758 32731246 21q22.2 21q22.11 604297 SYNJ1, PARK20, EIEE53 Synaptojanin 1 SYNJ1 8867 ENSG00000159082 Epileptic encephalopathy, early infantile, 53, 617389 (3), Autosomal recessive; Parkinson disease 20, early-onset, 615530 (3), Autosomal recessive Synj1 (MGI:1354961)
chr21 32733898 32771857 21q22.11 21q22.11 617621 PAXBP1, GCFC1, C21orf66 PAX3- and PAX7-binding protein 1 PAXBP1 94104 ENSG00000159086 Paxbp1 (MGI:1914617)
chr21 33025907 33029195 21q22.11 21q22.11 606386 OLIG2, PRKCBP2 Oligodendrocyte lineage transcription factor 2 OLIG2 10215 ENSG00000205927 Olig2 (MGI:1355331)
chr21 33070143 33072421 21q22.11 21q22.11 606385 OLIG1 Oligodendrocyte lineage transcription factor 1 OLIG1 116448 ENSG00000184221 Olig1 (MGI:1355334)
chr21 33229894 33264512 21q22.1 21q22.11 602376 IFNAR2, IMD45 Interferon, alpha, beta, and omega, receptor 2 IFNAR2 3455 ENSG00000159110 mutation identified in 1 IMD45 family {Hepatitis B virus, susceptibility to}, 610424 (3); ?Immunodeficiency 45, 616669 (3), Autosomal recessive Ifnar2 (MGI:1098243)
chr21 33266359 33297233 21q22.1 21q22.11 123889 CRFB4, IBD25 Cytokine receptor, family II, member 4 IL10RB 3588 ENSG00000243646 35kb distal to IFNAR; D21S58 {Hepatitis B virus, susceptibility to}, 610424 (3); Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3), Autosomal recessive Il10rb (MGI:109380)
chr21 33324442 33360360 21q22.1 21q22.11 107450 IFNAR1 Interferon, alpha, beta and omega, receptor 1 IFNAR1 3454 ENSG00000142166 Ifnar1 (MGI:107658)
chr21 33402895 33437520 21q22.1-q22.2 21q22.11 147569 IFNGR2, IFNGT1, IFGR2, IMD28 Interferon gamma receptor-2 (interferon gamma transducer 1) IFNGR2 3460 ENSG00000159128 Immunodeficiency 28, mycobacteriosis, 614889 (3), Autosomal recessive Ifngr2 (MGI:107654)
chr21 33432485 33480008 21q22.11 21q22.11 617894 TMEM50B, C21orf4 Transmembrane protein 50B TMEM50B 757 ENSG00000142188 Tmem50b (MGI:1925225)
chr21 33503930 33542891 21q22.1 21q22.11 138440 GART, PRGS, PGFT Phosphoribosylglycinamide formyltransferase (phosphoribosylglycinamide synthetase; phosphoribosylaminoimidazole synthetase) GART 2618 ENSG00000159131 multifunctional protein: Ade(-)C, Ade(-)G, GART Gart (MGI:95654)
chr21 33543037 33577513 21q22.1-q22.2 21q22.11 182465 SON, TOKIMS SON DNA-binding protein SON 6651 ENSG00000159140 ZTTK syndrome, 617140 (3), Autosomal dominant Son (MGI:98353)
chr21 33577550 33588707 21q22.1 21q22.11 611428 DONSON, C21orf60, MISSLA, MIMIS Downstream neighbor of SON DONSON 29980 ENSG00000159147 Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive; Microcephaly-micromelia syndrome, 251230 (3), Autosomal recessive Donson (MGI:1890621)
chr21 33589340 33641853 21q22.1 21q22.11 603920 CRYZL1 Crystallin, zeta-like 1 CRYZL1 9946 ENSG00000205758 Cryzl1 (MGI:1913859)
chr21 33642399 33899860 21q22.1-q22.2 21q22.11 602442 ITSN1, SH3D1A, SH3P17 Intersectin 1 (SH3 domain protein-1A) ITSN1 6453 ENSG00000205726 Itsn1 (MGI:1338069)
chr21 33903452 33915853 21q22.1-q22.2 21q22.11 600828 ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (oligomycin sensitivity conferring protein) ATP5PO 539 ENSG00000241837 Atp5o (MGI:106341)
chr21 34073522 34143033 21q21.3-q22.1 21q22.11 611973 MRPS6 Mitochondrial ribosomal protein S6 MRPS6 64968 ENSG00000243927 Mrps6 (MGI:2153111)
chr21 34073522 34106261 21q22 21q22.11 600444 SLC5A3 Solute carrier family 5 (inositol transporter), member 3 SLC5A3 6526 ENSG00000198743 ?role in Down syndrome Slc5a3 (MGI:1858226)
chr21 34364023 34371140 21q22.1 21q22.11 603796 KCNE2, MIRP1, LQT6, ATFB4 Potassium voltage-gated channel, Isk-related family, member 2 KCNE2 9992 ENSG00000159197 Atrial fibrillation, familial, 4, 611493 (3); Long QT syndrome 6, 613693 (3), Autosomal dominant Kcne2 (MGI:1891123)
chr21 34446687 34512274 21q22.1-q22.2 21q22.12 176261 KCNE1, JLNS, LQT5, JLNS2 Potassium voltage-gated channel, Isk-related subfamily, member 1 KCNE1 3753 ENSG00000180509 Jervell and Lange-Nielsen syndrome 2, 612347 (3), Autosomal recessive; Long QT syndrome 5, 613695 (3), Autosomal dominant
chr21 34516441 34615141 21q22.1-q22.2 21q22.12 602917 RCAN1, DSCR1, MCIP1, CSP1 Regulator of calcineurin 1 RCAN1 1827 ENSG00000159200 Rcan1 (MGI:1890564)
chr21 34668952 34718226 21q22.12 21q22.12 615321 CLIC6, CLIC1L Chloride intracellular channel 6 CLIC6 54102 ENSG00000159212 Clic6 (MGI:2146607)
chr21 34787800 35049333 21q22.3 21q22.12 151385 RUNX1, CBFA2, AML1 Runt-related transcription factor 1 (aml1 oncogene) RUNX1 861 ENSG00000159216 Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Platelet disorder, familial, with associated myeloid malignancy, 601399 (3), Autosomal dominant Runx1 (MGI:99852)
chr21 35720714 35720807 21q22.12 21q22.12 616090 MIR802 Micro RNA 802 MIR802 768219
chr21 36069923 36073176 21q22.12 21q22.12 114830 CBR1 Carbonyl reductase 1 CBR1 873 ENSG00000159228 Cbr1 (MGI:88284)
chr21 36134900 36146561 21q22.2 21q22.12 603608 CBR3 Carbonyl reductase 3 CBR3 874 ENSG00000159231 Cbr3 (MGI:1309992)
chr21 36156780 36294273 21q22.2 21q22.12 604803 DOPEY2, 21orf5, KIAA0933 Dopey family member 2 DOPEY2 9980 ENSG00000142197 Dopey2 (MGI:1917278)
chr21 36320188 36376645 21q22.12 21q22.12 610078 MORC3, NXP2 MORC family CW-type zinc finger 3 MORC3 23515 ENSG00000159256 Morc3 (MGI:2136841)
chr21 36380144 36416826 21q22.2 21q22.12-q22.13 601245 CAF1A Chromatin assembly factor I, p60 subunit CHAF1B 8208 ENSG00000159259 Chaf1b (MGI:1314881)
chr21 36400000 46709983 21q22.13-qter 609876 BMND6 Bone mineral density QTL 6 100188797 max lod at D21S1446 [Bone mineral density QTL 6], 609876 (2)
chr21 36400000 38300000 21q22.13 609633 MAFD3, BPEO Major affective disorder 3 100188792 max lod at D21S1252 {Major affective disorder 3, early onset}, 609633 (2)
chr21 36460620 36576568 21q22.3 21q22.13 605608 CLDN14, DFNB29 Claudin 14 CLDN14 23562 ENSG00000159261 Deafness, autosomal recessive 29, 614035 (3), Autosomal recessive Cldn14 (MGI:1860425)
chr21 36699116 36750218 21q22.2 21q22.13 600892 SIM2 Single-minded, Drosophila, homolog of, 2 SIM2 6493 ENSG00000159263 Sim2 (MGI:98307)
chr21 36748624 36990393 21q22.1 21q22.13 609018 HLCS, HCS Holocarboxylase synthetase HLCS 3141 ENSG00000159267 Holocarboxylase synthetase deficiency, 253270 (3), Autosomal recessive Hlcs (MGI:894646)
chr21 37006149 37019658 21q22.2 21q22.13 609892 DSCR6, RIPPLY3 Down syndrome critical region gene 6 RIPPLY3 53820 ENSG00000183145 Ripply3 (MGI:2181192)
chr21 37065363 37073157 21q22.1-q22.2 21q22.13 605938 PIGP, DSCR5, EIEE55 Phosphatidylinositol glycan, class P PIGP 51227 ENSG00000185808 mutation identified one EIEE55 family ?Epileptic encephalopathy, early infantile, 55, 617599 (3), Autosomal recessive Pigp (MGI:1860433)
chr21 37073183 37203117 21q22.2 21q22.13 602259 TTC3, TPRD Tetratricopeptide repeat domain 3 TTC3 7267 ENSG00000182670 Ttc3 (MGI:1276539)
chr21 37223419 37268107 21q22.2 21q22.13 605298 DSCR3, DSCRA Down syndrome critical region gene 3 VPS26C 10311 ENSG00000157538 Dscr3 (MGI:1206040)
chr21 37365572 37515375 21q22.1 21q22.13 600855 DYRK1A, MNBH, MNB, MRD7 Dual specificity tyrosine-(Y)-phosphorylation regulated kinase-1A (\'minibrain\', Drosophila, homolog of) DYRK1A 1859 ENSG00000157540 ?triplicate state responsible for mental defect in Down syndrome Mental retardation, autosomal dominant 7, 614104 (3), Autosomal dominant Dyrk1a (MGI:1330299)
chr21 37624222 37916437 21q22.1 21q22.13 600877 KCNJ6, GIRK2, KCNJ7, KPLBS Potassium inwardly-rectifying channel, subfamily J, member 6 KCNJ6 3763 ENSG00000157542 Keppen-Lubinsky syndrome, 614098 (3), Autosomal dominant Kcnj6 (MGI:104781)
chr21 38054010 38121359 21q22.2 21q22.13 604829 DSCR4, DSCRB Down syndrome critical region gene 4 DSCR4 10281
chr21 38121450 38156510 21q22.2 21q22.13 613396 DSCR8, MMA1 Down syndrome critical region gene 8 DSCR8 84677
chr21 38229914 38303125 21q22.2 21q22.1-q22.2 602106 KCNJ15 Potassium inwardly-rectifying channel, subfamily J, member 15 KCNJ15 3772 ENSG00000157551 Kcnj15 (MGI:1310000)
chr21 38367260 38661779 21q22.3 21q22.2 165080 ERG Erythroblastosis virus E26, avian, (v-ets) oncogene related ERG 2078 ENSG00000157554 fused with EWS in Ewing sarcoma, with FUS in leukemia Erg (MGI:95415)
chr21 38739020 38773476 21q22.2-q22.3 21q22.2 611723 C21orf24 Chromosome 21 open reading frame 24 LINC00114 400866
chr21 38805306 38824954 21q22.3 21q22.2 164740 ETS2 Oncogene ETS-2 ETS2 2114 ENSG00000157557 proximal q22.3 Ets2 (MGI:95456)
chr21 39175445 39183513 21q22.3 21q22.2 605296 PSMG1, DSCR2, C21LRP Proteasome (prosome, macropain) assembly chaperone 1 PSMG1 8624 ENSG00000183527 Psmg1 (MGI:1860263)
chr21 39184175 39321594 21q22.2-q22.3 21q22.2 617824 BRWD1, WRD9, C21orf107 Bromodomain and WD repeat domain-containing protein 1 BRWD1 54014 ENSG00000185658 Brwd1 (MGI:1890651)
chr21 39342314 39349120 21q22.3 21q22.2 163920 HMGN1, HMG14 High-mobility group nucleosomal binding protein 1 HMGN1 3150 ENSG00000205581 Hmgn1 (MGI:96120)
chr21 39380243 39428527 21q22.3 21q22.2 602915 WRB, CHD5 Tryptophan-rich basic protein WRB 7485 ENSG00000182093 Wrb (MGI:2136882)
chr21 39445864 39515505 21q22.3 21q22.2 602230 SH3GBR SH3 domain binding glutamic acid-rich protein SH3BGR 6450 ENSG00000185437
chr21 39612939 39662888 21q22.3 21q22.2 604066 B3GALT5, GLCT5 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5 B3GALT5 10317 ENSG00000183778 B3galt5 (MGI:2136878)
chr21 39632464 39802095 21q22.2 21q22.2 610638 JAM4 Junctional adhesion molecule 4 IGSF5 150084 ENSG00000183067 Igsf5 (MGI:1919308)
chr21 39867420 39929396 21q22.3 21q22.2 601629 PCP4 Purkinje cell protein 4 PCP4 5121 ENSG00000183036 Pcp4 (MGI:97509)
chr21 40010998 40847138 21q22.2-q22.3 21q22.2 602523 DSCAM Down syndrome cell adhesion molecule DSCAM 1826 ENSG00000171587 Dscam (MGI:1196281)
chr21 41167800 41282533 21q22.3 21q22.2-q22.3 605668 BACE2, ALP56, DRAP Beta-site amyloid beta A4 precursor protein-cleaving enzyme 2 (Down syndrome region aspartic protease) BACE2 25825 ENSG00000182240 Bace2 (MGI:1860440)
chr21 41175230 41185238 21q22.3 21q22.2 613770 PLAC4 Placenta-specific gene 4 PLAC4 191585
chr21 41200000 46709983 21q22.3 190685 DCR, DSCR Down syndrome chromosome region many genes are involved in this phenotype Down syndrome, 190685 (4), Isolated cases
chr21 41200000 46709983 21q22.3 236100 HPE1 Holoprosencephaly-1, alobar HPE1 3244 Holoprosencephaly 1, 236100 (2), Autosomal dominant, Isolated cases
chr21 41304228 41357726 21q22 21q22.3 608617 FAM3B Family with sequence similarity 3, member B FAM3B 54097 ENSG00000183844 Fam3b (MGI:1270150)
chr21 41361943 41408942 21q22.3 21q22.3 147890 MX2 Myxovirus (influenza) resistance-2 MX2 4600 ENSG00000183486
chr21 41420328 41459213 21q22.3 21q22.3 147150 MX1, MX, IFI78 Myxovirus (influenza) resistance-1 (interferon induced protein p78) MX1 4599 ENSG00000157601
chr21 41464550 41508157 21q22.3 21q22.3 602060 TMPRSS2 Transmembrane protease, serine 2 TMPRSS2 7113 ENSG00000184012 Tmprss2 (MGI:1354381)
chr21 41739368 41767088 21q22.3 21q22.3 605706 RIPK4, NKRD3, DIK, PPS2 Receptor-interacting serine-threonine kinase 4 RIPK4 54101 ENSG00000183421 Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3), Autosomal recessive Ripk4 (MGI:1919638)
chr21 41798224 41879481 21q22.3 21q22.3 617692 PRDM15, ZNF298 PR domain-containing protein 15 PRDM15 63977 ENSG00000141956 Prdm15 (MGI:1930121)
chr21 41885109 41953967 21q22.3 21q22.3 617581 C2CD2, TMEM24L, C21orf25 C2 calcium-dependent domain-containing protein 2 C2CD2 25966 ENSG00000157617 C2cd2 (MGI:1891883)
chr21 41986830 42010417 21q22.3 21q22.3 616485 ZBTB21, ZNF295, KIAA1227 Zinc finger- and BTB domain-containing protein 21 ZBTB21 49854 ENSG00000173276 Zbtb21 (MGI:1927240)
chr21 42062958 42142995 21q22.3 21q22.3 613859 UMODL1 Uromodulin-like 1 UMODL1 89766 ENSG00000177398 Umodl1 (MGI:1929785)
chr21 42199688 42304386 21q22.3 21q22.3 603076 ABCG1, ABC8, WHITE1 ATP-binding cassette, subfamily G, member 1 (white, Drosophila, homolog of) ABCG1 9619 ENSG00000160179 Abcg1 (MGI:107704)
chr21 42311666 42315595 21q22.3 21q22.3 600633 TFF3, ITF Trefoil factor 3 (intestinal) TFF3 7033 ENSG00000160180 Tff3 (MGI:104638)
chr21 42346356 42351098 21q22.3 21q22.3 182590 TFF2, SML1 Trefoil factor 2 (spasmolytic protein-1) TFF2 7032 ENSG00000160181 within 230kb of BCEI Tff2 (MGI:1306805)
chr21 42362281 42366534 21q22.3 21q22.3 113710 TFF1, BCEI Trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in) TFF1 7031 ENSG00000160182 Tff1 (MGI:88135)
chr21 42371886 42396845 21q22.3 21q22.3 605511 TMPRSS3, ECHOS1, DFNB8, DFNB10 Transmembrane protease, serine 3 TMPRSS3 64699 ENSG00000160183 Deafness, autosomal recessive 8/10, 601072 (3), Autosomal recessive Tmprss3 (MGI:2155445)
chr21 42403861 42447679 21q22.3 21q22.3 605736 UBASH3A Ubiquitin-associated and SH3 domain-containing protein A UBASH3A 53347 ENSG00000160185 Ubash3a (MGI:1926074)
chr21 42472485 42496353 21q22.3 21q22.3 609314 RSPH1, TSGA2, TSA2, CILD24 Radial spoke head 1, Chlamydomonas, homolog of RSPH1 89765 ENSG00000160188 Ciliary dyskinesia, primary, 24, 615481 (3), Autosomal recessive Rsph1 (MGI:1194909)
chr21 42499631 42581439 21q22.3 21q22.3 608094 SLC37A1, G3PP Solute carrier family 37 (glycerol-3-phosphate transporter), member 1 SLC37A1 54020 ENSG00000160190 Slc37a1 (MGI:2446181)
chr21 42653751 42775508 21q22.3 21q22.3 602973 PDE9A, HSPDE9A2 Phosphodiesterase 9A PDE9A 5152 ENSG00000160191 Pde9a (MGI:1277179)
chr21 42843074 42891694 21q22.3 21q22.3 605924 WDR4 WD repeat-containing protein 4 WDR4 10785 ENSG00000160193 Wdr4 (MGI:1889002)
chr21 42893267 42911395 21q22.3 21q22.3 602184 NDUFV3 NADH-ubiquinone oxidoreductase flavoprotein 3, 10kD NDUFV3 4731 ENSG00000160194 Ndufv3 (MGI:1890894)
chr21 42974509 43033930 21q22.3 21q22.3 602100 PKNOX1 PBX/knotted 1 homeo box 1 PKNOX1 5316 ENSG00000160199 Pknox1 (MGI:1201409)
chr21 43053189 43076860 21q22.3 21q22.3 613381 CBS Cystathionine beta-synthase CBS 875 ENSG00000160200 subtelomeric Homocystinuria, B6-responsive and nonresponsive types, 236200 (3), Autosomal recessive; Thrombosis, hyperhomocysteinemic, 236200 (3), Autosomal recessive Cbs (MGI:88285)
chr21 43092955 43108290 21q22.3 21q22.3 191317 U2AF1 U2(RNU2) small nuclear RNA auxillary factor 1 U2AF1 7307 ENSG00000160201
chr21 43169007 43172809 21q22.3 21q22.3 123580 CRYAA, CRYA1, CTRCT9 Crystallin, alpha A CRYAA 1409 ENSG00000160202 Cataract 9, multiple types, 604219 (3), Autosomal recessive, Autosomal dominant Cryaa (MGI:88515)
chr21 43414489 43427131 21q22.3 21q22.3 605705 SIK1, SNF1LK, MSK, EIEE30 Salt-inducible kinase 1 SIK1 150094 ENSG00000142178 Epileptic encephalopathy, early infantile, 30, 616341 (3), Autosomal dominant
chr21 43453986 43659498 21q22.3 21q22.3 604554 HSF2BP Heat-shock transcription factor 2-binding protein HSF2BP 11077 ENSG00000160207 Hsf2bp (MGI:1921627)
chr21 43659550 43696078 21q22 21q22.3 610654 RRP1B, KIAA0179, NNP1L Ribosomal RNA-processing protein 1, S. cerevisiae, homolog of, B RRP1B 23076 ENSG00000160208 Rrp1b (MGI:1919712)
chr21 43719096 43762306 21q22.3 21q22.3 179020 PDXK, PNK, PKH Pyridoxal kinase PDXK 8566 ENSG00000160209 Pdxk (MGI:1351869)
chr21 43773664 43776374 21q22.3 21q22.3 601145 CSTB, STFB, EPM1, PME, EPM1A, ULD Cystatin B (stefin B) CSTB 1476 ENSG00000160213 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3), Autosomal recessive Cstb (MGI:109514)
chr21 43865159 43987593 21q22.3 21q22.3 614794 AGPAT3, LPAAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 AGPAT3 56894 ENSG00000160216 Agpat3 (MGI:1336186)
chr21 44012324 44106551 21q22.3 21q22.3 602103 TMEM1, EHOC1 Transmembrane protein 1 TRAPPC10 7109 ENSG00000160218 near PWP2H Trappc10 (MGI:1336209)
chr21 44107322 44131180 21q22.3 21q22.3 601475 PWP2H, PWP2 PWP2 periodic tryptophan protein, yeast, homolog of PWP2 5822 ENSG00000241945
chr21 44133611 44145722 21q22.3 21q22.3 601659 ES1, HES1, GT335, C21orf33 ES1, zebrafish, protein, homolog of GATD3A 8209 ENSG00000160221 D10Jhu81e (MGI:1351861)
chr21 44216978 44241003 21q22.3 21q22.3 605717 ICOSLG, B7H2, GL50, B7RP1 Inducible T-cell co-stimulator ligand ICOSLG 23308 ENSG00000160223 Icosl (MGI:1354701)
chr21 44246338 44262215 21q22.3 21q22.3 606588 DNMT3L DNA methyltransferase 3-like protein DNMT3L 29947 ENSG00000142182 Dnmt3l (MGI:1859287)
chr21 44285837 44298218 21q22.3 21q22.3 607358 AIRE, APECED, APS1 Autoimmune regulator AIRE 326 ENSG00000160224 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3), Autosomal recessive, Autosomal dominant Aire (MGI:1338803)
chr21 44300033 44327380 21q22.3 21q22.3 171860 PFKL Phosphofructokinase, liver type PFKL 5211 ENSG00000141959 Hemolytic anemia due to phosphofructokinase deficiency (1) Pfkl (MGI:97547)
chr21 44328943 44339416 21q22.3 21q22.3 603191 C21orf2, SMDAX, RDMS Chromosome 21 open reading frame 2 C21orf2 755 ENSG00000160226 Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive; Spondylometaphyseal dysplasia, axial, 602271 (3), Autosomal recessive 1810043G02Rik (MGI:1915134)
chr21 44350111 44443080 21q22.3 21q22.3 603749 TRPM2, TRPC7, KNP3 Transient receptor potential cation channel, subfamily M, member 2 TRPM2 7226 ENSG00000142185 Trpm2 (MGI:1351901)
chr21 44455485 44462195 21q22.3 21q22.3 617620 LRRC3, C21orf102, C21orf30 Leucine-rich repeat-containing protein 3 LRRC3 81543 ENSG00000160233 Lrrc3 (MGI:2447899)
chr21 44497891 44711579 21q22.3 21q22.3 612920 TSPEAR, C21orf29, DFNB98 Thrombospondin-type laminin G domain and EAR repeats TSPEAR 54084 ENSG00000175894 mutation identified in 1 DFNB98 family ?Deafness, autosomal recessive 98, 614861 (3), Autosomal recessive Tspear (MGI:2671932)
chr21 44768579 44801835 21q22.3 21q22.3 603124 UBE2G2, UBC7 Ubiquitin-conjugating enzyme E2G 2 UBE2G2 7327 ENSG00000184787 Ube2g2 (MGI:1343188)
chr21 44805616 44818128 21q22.3 21q22.3 602231 SUMO3, SMT3H1 Small ubiquitin-like modifier 3 SUMO3 6612 ENSG00000184900 Sumo3 (MGI:1336201)
chr21 44849584 44873902 21q22.3 21q22.3 603784 PTTG1IP, C21orf1, C21orf3, PBF Pituitary tumor-transforming gene 1 protein-interacting protein PTTG1IP 754 ENSG00000183255 Pttg1ip (MGI:2652132)
chr21 44885948 44928872 21q22.3 21q22.3 600065 ITGB2, CD18, LCAMB, LAD Integrin, beta-2 (antigen CD18 (p95), lymphocyte function-associated antigen-1; macrophage antigen, beta polypeptide) ITGB2 3689 ENSG00000160255 common subunit for CR3, LFA1, and P150,95 Leukocyte adhesion deficiency, 116920 (3), Autosomal recessive Itgb2 (MGI:96611)
chr21 44989863 44994085 21q22.3 21q22.3 610259 LINC00163, NCRNA00163, NLC1A Long intergenic nonprotein coding RNA 163 LINC00163 727699
chr21 44999207 45004726 21q22.3 21q22.3 617191 PICSAR, LINC00162, NLC1C p38-inhibited cutaneous squamous cell carcinoma-associated long intergenic noncoding RNA PICSAR 378825
chr21 45074577 45226562 21q22.3 21q22.3 601218 ADARB1, RED1 Adenosine deaminase, RNA-specific, B1 (RED1, rat, homolog of) ADARB1 104 ENSG00000197381 Adarb1 (MGI:891999)
chr21 45263927 45287913 21q22.3 21q22.3 610249 POFUT2, C21Orf80, KIAA0958 Protein O-fucosyltransferase 2 POFUT2 23275 ENSG00000186866 Pofut2 (MGI:1916863)
chr21 45405136 45513719 21q22.3 21q22.3 120328 COL18A1, KNO1 Collagen XVIII, alpha-1 polypeptide COL18A1 80781 ENSG00000182871 Knobloch syndrome, type 1, 267750 (3), Autosomal recessive Col18a1 (MGI:88451)
chr21 45502516 45563139 21q22.3 21q22.3 600424 SLC19A1, FOLT Solute carrier family 19 (folate transporter), member 1 SLC19A1 6573 ENSG00000173638 Slc19a1 (MGI:103182)
chr21 45643724 45942453 21q22.3 21q22.3 608502 PCBP3 Poly(rC)-binding protein 3 PCBP3 54039 ENSG00000183570 Pcbp3 (MGI:1890470)
chr21 45981748 46005048 21q22.3 21q22.3 120220 COL6A1, BTHLM1, UCHMD1 Collagen VI, alpha-1 polypeptide COL6A1 1291 ENSG00000142156 Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant Col6a1 (MGI:88459)
chr21 46098070 46132848 21q22.3 21q22.3 120240 COL6A2, BTHLM1, UCMD1 Collagen VI, alpha-2 polypeptide COL6A2 1292 ENSG00000142173 mutation identified in 1 MYSCL family Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant; ?Myosclerosis, congenital, 255600 (3), Autosomal recessive; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant Col6a2 (MGI:88460)
chr21 46135980 46156481 21q22.3 21q22.3 606806 FTCD Formiminotransferase cyclodeminase FTCD 10841 ENSG00000160282 Glutamate formiminotransferase deficiency, 229100 (3), Autosomal recessive Ftcd (MGI:1339962)
chr21 46161147 46185162 21q22.3 21q22.3 612412 C21orf56 Chromosome 21 open reading frame 56 SPATC1L 84221 ENSG00000160284 Spatc1l (MGI:1923823)
chr21 46188445 46228823 21q22.3 21q22.3 600909 LSS, OSC, CTRCT44 Lanosterol synthase LSS 4047 ENSG00000160285 Cataract 44, 616509 (3), Autosomal recessive Lss (MGI:1336155)
chr21 46235124 46286296 21q22.3 21q22.3 603294 MCM3AP, MAP80, GANP Minichromosome maintenance 3-associated protein, 80-kD MCM3AP 8888 ENSG00000160294 Mcm3ap (MGI:1930089)
chr21 46286055 46314187 21q22.3 21q22.3 617461 YBEY, C21orf57 YBEY metallopeptidase YBEY 54059 ENSG00000182362 Ybey (MGI:2656825)
chr21 46324121 46445768 21q22.3 21q22.3 605925 PCNT, PCNT2, KEN, SCKL4, MOPD2 Pericentrin PCNT 5116 ENSG00000160299 Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3), Autosomal recessive
chr21 46458941 46571225 21q22.3 21q22.3 607711 DIP2, KIAA0184 Disco-interacting protein 2, Drosophila, homolog of DIP2A 23181 ENSG00000160305 previously mapped to Chr.2 Dip2a (MGI:2385920)
chr21 46598617 46605242 21q22.2-q22.3 21q22.3 176990 S100B S100 calcium-binding protein, beta (neural) S100B 6285 ENSG00000160307 S100b (MGI:98217)
chr21 46635155 46665684 21q22.3 21q22.3 601961 HRMT1L1, PRMT2 HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1 PRMT2 3275 ENSG00000160310 Prmt2 (MGI:1316652)
chr21 0 46709983 Chr.21 109670 BAS Beta-adrenergic stimulation, response to 8213
chr21 0 46709983 Chr.21 143460 HTOR 5-hydroxytryptamine oxygenase regulator HTOR 3349
chr22 4300000 9400000 22p12 180454 RNR5 Ribosomal RNA-5 RNR5 6056
chr22 11474776 11479642 22p 22p11.2 194547 ZNF73 Zinc finger protein-73 (Cos12) ZNF73 105379427
chr22 15000000 25500000 22q11 125520 ACF Asymmetric crying facies (Cayler cardiofacial syndrome) 387569 Cayler cardiofacial syndrome, 125520 (2), Autosomal dominant
chr22 15000000 25500000 22q11 115470 CECR, CES Cat eye syndrome partial tetrasomy of 22q11 Cat eye syndrome, 115470 (4), Autosomal dominant
chr22 15000000 37200000 22q11-q12 151626 LRE1, L1.2 Line-1.2 retrotransposable element
chr22 15690025 15721630 22q11.1 22q11.1 608913 POTEH, POTE22, ACTBL1 POTE ankyrin domain family, member H POTEH 23784 ENSG00000198062
chr22 16195708 16198039 22p 22q11.1 194546 ZNF72 Zinc finger protein-72 (Cos8) ZNF72P 100287084
chr22 16783411 16825411 22q11.1 22q11.1 611674 XKR3, XTES, XRG3 X Kell blood group precursor-related family, member 3 XKR3 150165 ENSG00000172967
chr22 17084958 17115693 22q11.22-q11.23 22q11.1 605461 IL17RA, IL17R, IMD51 Interleukin 17 receptor A IL17RA 23765 ENSG00000177663 Immunodeficiency 51, 613953 (3), Autosomal recessive Il17ra (MGI:107399)
chr22 17178789 17221853 22q11.2 22q11.1 607575 CECR1, PAN, SNEDS Cat eye syndrome chromosome region, candidate 1 ADA2 51816 ENSG00000093072 mutation identified in 1 SNEDS family Polyarteritis nodosa, childhood-onset, 615688 (3), Autosomal recessive; ?Sneddon syndrome, 182410 (3), Autosomal recessive
chr22 17359948 17558154 22q11.2 22q11.1-q11.2 607576 CECR2, KIAA1740 Cat eye syndrome chromosome region, candidate 2 CECR2 27443 ENSG00000099954 Cecr2 (MGI:1923799)
chr22 17400000 25500000 22q11.2 611867 DEL22q11.2, C22DELq11.2 Chromosome 22q11.2 deletion syndrome, distal Chromosome 22q11.2 deletion syndrome, distal, 611867 (4)
chr22 17400000 25500000 22q11.2 609029 DER22t11-22 Emanuel syndrome (supernumerary der(22)t(11;22) syndrome) Emanuel syndrome, 609029 (4), Inherited chromosomal imbalance
chr22 17400000 25500000 22q11.2 613700 DER22t8-22 Supernumerary der(22)t(8;22) syndrome Supernumerary der(22)t(8-22) syndrome, 613700 (4)
chr22 17400000 29200000 22q11.21-q12.1 608264 DFNB40 Deafness, autosomal recessive 40 DFNB40 379003 Deafness, autosomal recessive 40, 608264 (2), Autosomal recessive
chr22 17400000 25500000 22q11.2 608363 DUP22q11.2 Chromosome 22q11.2 microduplication syndrome contiguous gene microduplication syndrome Chromosome 22q11.2 microduplication syndrome, 608363 (4), Autosomal dominant, Isolated cases
chr22 17400000 25500000 22q11.2 600436 GSTT1 Glutathione S-transferase, theta-1 GSTT1 2952
chr22 17400000 25500000 22q11.2 147230 IGLJ@ Immunoglobulin lambda light chain joining gene cluster 8217 nine J-C duplexes
chr22 17400000 25500000 22q11.2 147240 IGLV@ Immunoglobulin lambda light chain variable gene cluster 3546 many genes
chr22 17562469 17592255 22q11.2 22q11.21 609303 SLC25A18, GC2 Solute carrier family 25 (mitochondrial carrier, glutamate), member 18 SLC25A18 83733 ENSG00000182902 Slc25a18 (MGI:1919053)
chr22 17592135 17628821 22q11.2 22q11.21 108746 ATP6V1E1, ATP6E, ARCL2C ATPase, H+ transporting, lysosomal, 31kD, V1 subunit E isoform 1 ATP6V1E1 529 ENSG00000131100 Cutis laxa, autosomal recessive, type IIC, 617402 (3), Autosomal recessive Atp6v1e1 (MGI:894326)
chr22 17734139 17774664 22q11.2 22q11.21 601997 BID BH3-interacting domain death agonist BID 637 ENSG00000015475 Bid (MGI:108093)
chr22 17787648 18024558 22q11.21 22q11.21 608882 MICAL3, KIAA1364 Microtubule-associated monooxygenase, calponin and LIM domains-containing 3 MICAL3 57553 ENSG00000243156 Mical3 (MGI:2442733)
chr22 17980867 17980960 22q11.21 22q11.21 616205 MIR648 Micro RNA 648 MIR648 693233 in intron 1 of MICAL3
chr22 18077919 18091030 22q11.21 22q11.21 608666 PEX26, PBD7A, PBD7B Peroxisome biogenesis factor 26 PEX26 55670 ENSG00000215193 Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3), Autosomal recessive; Peroxisome biogenesis disorder 7B, 614873 (3), Autosomal recessive Pex26 (MGI:1921293)
chr22 18110686 18131730 22q11 22q11.21 605742 TUBA8, TUBAL2, CDCBM8 Tubulin, alpha 8 TUBA8 51807 ENSG00000183785 Cortical dysplasia, complex, with other brain malformations 8, 613180 (3), Autosomal recessive Tuba8 (MGI:1858225)
chr22 18149854 18177396 22q11.2 22q11.21 607057 USP18, UBP43, ISG43, PTORCH2 Ubiquitin-specific protease 18 USP18 11274 ENSG00000184979 Pseudo-TORCH syndrome 2, 617397 (3), Autosomal recessive Usp18 (MGI:1344364)
chr22 18516334 18518164 22q11.2 22q11.21 612340 GGTLC3 Gamma-glutamyltransferase, light chain 3 GGTLC3 728226 ENSG00000274252
chr22 18606123 18611918 22q11.21 22q11.21 612699 RIMBP3, RIMBP3A, KIAA1666 RIMS-binding protein 3 RIMBP3 85376 ENSG00000275793 Rimbp3 (MGI:2685449)
chr22 18906222 18912087 22q11 22q11.21 601279 DGCR6 DiGeorge syndrome critical region 6 DGCR6 8214 ENSG00000183628
chr22 18912773 18936552 22q11.2 22q11.21 606810 PRODH, PRODH2, SCZD4 Proline dehydrogenase (proline oxidase) PRODH 5625 ENSG00000100033 Hyperprolinemia, type I, 239500 (3), Autosomal recessive; {Schizophrenia, susceptibility to, 4}, 600850 (3), Autosomal dominant Prodh (MGI:97770)
chr22 19036281 19122453 22q11.2 22q11.21 600594 DGCR2, IDD DiGeorge critical region gene 2 (integral membrane protein deleted in DiGeorge syndrome) DGCR2 9993 ENSG00000070413 Dgcr2 (MGI:892866)
chr22 19130278 19144725 22q11.2 22q11.21 601755 ESS2, DGSI, DGCR14 Ess2 splicing factor, Xenopus, homolog of ESS2 8220 ENSG00000100056 Dgcr14 (MGI:107854)
chr22 19130807 19132622 22q11.21 22q11.21 610710 TSSK2, STK22B Testis-specific serine/threonine kinase 2 TSSK2 23617 ENSG00000206203 Tssk2 (MGI:1347559)
chr22 19148990 19150282 22q11.21 22q11.21 601845 GSC2, GSCL Goosecoid homeobox 2 GSC2 2928 ENSG00000063515 Gsc2 (MGI:892006)
chr22 19175574 19178862 22q11 22q11.21 190315 SLC25A1, SLC20A3, CTP, D2L2AD Solute carrier family 25 (mitochondrial citrate transporter), member 1 SLC25A1 6576 ENSG00000100075 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3), Autosomal recessive
chr22 19179472 19291715 22q11.2 22q11.21 601273 CLTCL1, CLTD Clathrin, heavy polypeptide-like 1 CLTCL1 8218 ENSG00000070371
chr22 19253120 19253468 22q11 22q11.21 601225 DVL, DVL1 Dishevelled, Drosophila, homolog-like DVL1P1 8215
chr22 19330700 19431695 22q11 22q11.21 600237 HIRA, TUPLE1 Histone cell cycle regulation defective, S. cerevisiae, homolog of, A (Tup-like enhancer of split 1) HIRA 7290 ENSG00000100084 ?role in CATCH22 Hira (MGI:99430)
chr22 19431901 19436077 22q11.21 22q11.21 605089 MRPL40, NLVCF, MRPL22 Mitochondrial ribosomal protein L40 MRPL40 64976 ENSG00000185608 Mrpl40 (MGI:1332635)
chr22 19449940 19479214 22q11.2 22q11.21 601754 UFD1L Ubiquitin fusion degradation 1-like UFD1 7353 ENSG00000070010 ?role in CATCH22 Ufd1 (MGI:109353)
chr22 19479293 19520611 22q11.2 22q11.21 603465 CDC45L, CDC45L2, MGORS7 Cell division cycle 45, S. Cerevisiae, homolog-like CDC45 8318 ENSG00000093009 Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive Cdc45 (MGI:1338073)
chr22 19523023 19527544 22q11.2 22q11.21 602101 CLDN5, TMVCF, AWAL Claudin-5 (transmembrane protein deleted in velocardiofacial syndrome) CLDN5 7122 ENSG00000184113 Cldn5 (MGI:1276112)
chr22 19714463 19723321 22q11.2 22q11.21 602724 SEPT5, PNUTL1, CDCREL Septin 5 SEPT5 5413 ENSG00000184702 just 5' of GP1BB Sept5 (MGI:1195461)
chr22 19723542 19724773 22q11.2 22q11.21 138720 GP1BB, BS, BDPLT1 Glycoprotein Ib, platelet, beta polypeptide GP1BB 2812 ENSG00000203618 Bernard-Soulier syndrome, type B, 231200 (3), Autosomal recessive; Giant platelet disorder, isolated, 231200 (3), Autosomal recessive Gp1bb (MGI:107852)
chr22 19756702 19783592 22q11.2 22q11.21 602054 TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR T-box 1 TBX1 6899 ENSG00000184058 Conotruncal anomaly face syndrome, 217095 (3); DiGeorge syndrome, 188400 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant; Velocardiofacial syndrome, 192430 (3), Autosomal dominant Tbx1 (MGI:98493)
chr22 19788410 19854938 22q11.2 22q11.21 610778 GNB1L, WDR14 Guanine nucleotide-binding protein, beta-1-like GNB1L 54584 ENSG00000185838 Gnb1l (MGI:1338057)
chr22 19875517 19941991 22q11.2 22q11.21 606448 TXNRD2, TRXR2, SELZ, GCCD5 Thioredoxin reductase 2 TXNRD2 10587 ENSG00000184470 mutation identified in 1 GCCD5 family ?Glucocorticoid deficiency 5, 617825 (3), Autosomal recessive Txnrd2 (MGI:1347023)
chr22 19941739 19969974 22q11.2 22q11.21 116790 COMT Catechol-O-methyltransferase COMT 1312 ENSG00000093010 {Panic disorder, susceptibility to}, 167870 (3), ?Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant Comt (MGI:88470)
chr22 19966726 20016801 22q11 22q11.21 602269 ARVCF Armadillo repeat gene deleted in VCFS ARVCF 421 ENSG00000099889 ?role in VCFS Arvcf (MGI:109620)
chr22 20016999 20067163 22q11.2 22q11.21 616830 TANGO2, C22orf25, MECRCN Transport and golgi organization 2, Drosophila, homolog of TANGO2 128989 ENSG00000183597 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3), Autosomal recessive Tango2 (MGI:101825)
chr22 20033138 20033219 22q11.21 22q11.21 615576 MIR185 Micro RNA 185 MIR185 406961 within first intron of C22orf25
chr22 20080231 20111876 22q11.2 22q11.21 609030 DGCR8 DiGeorge syndrome critical region gene 8 DGCR8 54487 ENSG00000128191 Dgcr8 (MGI:2151114)
chr22 20111865 20117294 22q11.21 22q11.21 611151 TRMT2A, HTF9C tRNA methyltransferase 2, S. cerevisiae, homolog of, A TRMT2A 27037 ENSG00000099899 Trmt2a (MGI:96270)
chr22 20115937 20127356 22q11.21 22q11.21 601180 RANBP1, HTF9A RAN-binding protein 1 RANBP1 5902 ENSG00000099901 Ranbp1 (MGI:96269)
chr22 20131840 20148006 22q11.21 22q11.21 608784 ZDHHC8, ZNF378, KIAA1292 Zinc finger DHHC domain-containing protein 8 ZDHHC8 29801 ENSG00000099904 Zdhhc8 (MGI:1338012)
chr22 20241414 20268292 22q11 22q11.21 605566 RTN4R, NOGOR NOGO receptor (reticulon 4 receptor) RTN4R 65078 ENSG00000040608 {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant Rtn4r (MGI:2136886)
chr22 20314237 20320104 22q11 22q11.21 609459 DGCR6L DiGeorge syndrome critical region gene 6-like DGCR6L 85359 ENSG00000128185
chr22 20394114 20408462 22q11.2 22q11.21 194548 ZNF74 Zinc finger protein-74 (Cos52) ZNF74 7625 ENSG00000185252
chr22 20424583 20437858 22q11 22q11.21 613619 SCARF2, SREC2, VDEGS Scavenger receptor class F, member 2 SCARF2 91179 ENSG00000244486 Van den Ende-Gupta syndrome, 600920 (3), Autosomal recessive Scarf2 (MGI:1858430)
chr22 20507541 20587631 22q11.2 22q11.21 607372 MED15, PCQAP, TIG1, ARC105 Mediator complex subunit 15 MED15 51586 ENSG00000099917
chr22 20707690 20858811 22q11.21 22q11.21 600286 PI4KA, PIK4CA, PMGYCHA Phosphatidylinositol 4-kinase, catalytic, alpha PI4KA 5297 ENSG00000241973 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3), Autosomal recessive Pi4ka (MGI:2448506)
chr22 20774094 20787719 22q11 22q11.21 142360 HCF2, HC2, SERPIND1, THPH10 Heparin cofactor II SERPIND1 3053 ENSG00000099937 proximal to BCR Thrombophilia due to heparin cofactor II deficiency, 612356 (3), Autosomal dominant Serpind1 (MGI:96051)
chr22 20859003 20891213 22q11.2 22q11.21 604202 SNAP29, CEDNIK Synaptosomal-associated protein, 29kD SNAP29 9342 ENSG00000099940 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3), Autosomal recessive Snap29 (MGI:1914724)
chr22 20917406 20953748 22q11 22q11.21 602007 CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like CRKL 1399 ENSG00000099942 Crkl (MGI:104686)
chr22 20965129 20981359 22q11.21 22q11.21 617298 AIFM3, AIFL Apoptosis-inducing factor, mitochondria-associated, 3 AIFM3 150209 ENSG00000183773 Aifm3 (MGI:1919418)
chr22 20982268 20999036 22q11.1-q11.2 22q11.21 600574 LZTR1, SWNTS2, NS10 Leucine-zipper-like regulator-1 LZTR1 8216 ENSG00000099949 Noonan syndrome 10, 616564 (3), Autosomal dominant; {Schwannomatosis-2, susceptibility to}, 615670 (3), Autosomal dominant Lztr1 (MGI:1914113)
chr22 21009698 21028012 22q11 22q11.21 608077 P2RXL1, P2XM, P2X6 Purinergic receptor P2X-like 1 P2RX6 9127 ENSG00000099957 P2rx6 (MGI:1337113)
chr22 21028717 21032557 22q11.2 22q11.21 603752 SLC7A4, CAT4 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 SLC7A4 6545 ENSG00000099960 Slc7a4 (MGI:2146512)
chr22 21207971 21283022 22q11.1 22q11.21 137181 GGT2 Gamma-glutamyltransferase-2 GGT2 728441 ENSG00000133475 [Gamma-glutamyltransferase, familial high serum], 137181 (2)
chr22 21383750 21389168 22q11.21 22q11.21 612700 RIMBP3B RIMS-binding protein 3B RIMBP3B 440804 ENSG00000274600 Rimbp3 (MGI:2685449)
chr22 21417402 21451462 22q11.2 22q11.21 607712 HIC2, HRG22, KIAA1020 Hypermethylated in cancer 2 HIC2 23119 ENSG00000169635 Hic2 (MGI:1929869)
chr22 21545665 21551460 22q11.21 22q11.21 612701 RIMBP3C RIMS-binding protein 3C RIMBP3C 150221 ENSG00000183246 Rimbp3 (MGI:2685449)
chr22 21549446 21624033 22q11.2-q13.1 22q11.21 603721 UBE2L3, UBCH7 Ubiquitin-conjugating enzyme E2L 3 UBE2L3 7332 ENSG00000185651 pseudogenes on 12q12 and 19q13.1-q13.2 Ube2l3 (MGI:109240)
chr22 21642252 21644298 22q11.2 22q11.21 607551 SDF2L1 Stromal cell-derived factor 2-like 1 SDF2L1 23753 ENSG00000128228 Sdf2l1 (MGI:2149842)
chr22 21653303 21653384 22q11.21-q11.22 22q11.21 613682 MIR130B, MIRN130B Micro RNA 130B MIR130B 406920
chr22 21665983 21698282 22q11.21 22q11.21 607588 PPIL2, CYP60 Peptidyl-prolyl isomerase-like 2 PPIL2 23759 ENSG00000100023 Ppil2 (MGI:2447857)
chr22 21697535 21735833 22q11.2 22q11.21-q11.22 608082 YPEL1 Yippee-like 1 YPEL1 29799 ENSG00000100027 pseudogene on 9p24.3 Ypel1 (MGI:1913303)
chr22 21759656 21867679 22q11.2 22q11.22 176948 MAPK1, PRKM1, ERK2 Mitogen-activated protein kinase 1 MAPK1 5594 ENSG00000100030 Mapk1 (MGI:1346858)
chr22 21954358 21982842 22q11 22q11.22 603582 TOP3B Topoisomerase, DNA, III, beta TOP3B 8940 ENSG00000100038 Top3b (MGI:1333803)
chr22 22244779 22245514 22q11.2 22q11.22 605141 VPREB1, IGI, VPREB Pre-B lymphocyte gene 1 VPREB1 7441 ENSG00000169575 Vpreb1,Vpreb2 (MGI:98936,MGI:98937)
chr22 22547695 22559360 22q11.22 22q11.22 606021 PRAME, MAPE, OIP4 Preferentially expressed antigen in melanoma PRAME 23532 ENSG00000185686
chr22 22644619 22647897 22q11.2 22q11.22 612339 GGTLC2, GGTL4 Gamma-glutamyltransferase, light chain 2 GGTLC2 91227 ENSG00000100121
chr22 22822775 22822870 22q11.22 22q11.22 615379 MIR650 Micro RNA 650 MIR650 723778
chr22 22895374 22895693 22q11.2 22q11.22 147220 IGLC1, IGLC Constant region of lambda light chains IGLC1 3537 several genes
chr22 23059407 23180047 22q11.2 22q11.22-q11.23 605663 RSPH14, RTDR1 Radial spoke head 14, Chlamydomonas, homolog of RSPH14 27156 ENSG00000100218 Rsph14 (MGI:1918486)
chr22 23070348 23125036 22q11.2 22q11.22-q11.23 139160 GNAZ Guanine nucleotide-binding protein (G protein), alpha z polypeptide GNAZ 2781 ENSG00000128266 Gnaz (MGI:95780)
chr22 23145297 23169284 22q11.2 22q11.23 605662 RAB36 Ras family, member 36 RAB36 9609 ENSG00000100228 Rab36 (MGI:1924127)
chr22 23180364 23318036 22q11.21 22q11.23 151410 BCR, CML, PHL, ALL Breakpoint cluster region BCR 613 ENSG00000186716 Ph1=t(9;22) (q34.1;q11.21); fused with ABL in CML Leukemia, acute lymphocytic, somatic, 613065 (3); Leukemia, chronic myeloid, somatic, 608232 (3) Bcr (MGI:88141)
chr22 23573124 23580547 22q11.21 22q11.23 146770 IGLL1, IGO, IGL5, VPREB2, AGM2 Immunoglobulin lambda-like polypeptide 1 (immunoglobulin omega peptide) IGLL1 3543 ENSG00000128322 between BCR2 and BCR4; distal to IGLC Agammaglobulinemia 2, 613500 (3), Autosomal recessive Igll1 (MGI:96529)
chr22 23690860 23699175 22q11.2 22q11.23 612214 RGL4, RGR Ral guanine nucleotide dissociation stimulator-like 4 RGL4 266747 ENSG00000159496
chr22 23741583 23751091 22q11.2 22q11.23 194544 ZNF70 Zinc finger protein-70 (Cos17) ZNF70 7621 ENSG00000187792
chr22 23752742 23754442 22q11 22q11.23 605017 VPREB3 Pre-B-lymphocyte gene 3 VPREB3 29802 ENSG00000128218 Vpreb3 (MGI:98938)
chr22 23765833 23767971 22q11.23 22q11.23 615903 CHCHD10, FTDALS2, SMAJ, IMMD Coiled-coil-helix-coiled-coil-helix domain-containing protein 10 CHCHD10 400916 ENSG00000250479 mutation identified in 1 IMMD family Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3), Autosomal dominant; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3), Autosomal dominant; Spinal muscular atrophy, Jokela type, 615048 (3), Autosomal dominant Chchd10 (MGI:2143558)
chr22 23772818 23784315 22q11.2 22q11.23 185261 MMP11, STMY3 Matrix metalloproteinase 11 (stromelysin 3) MMP11 4320 ENSG00000099953 Mmp11 (MGI:97008)
chr22 23786930 23834517 22q11 22q11.23 601607 SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15, SWNTS1, CSS3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 SMARCB1 6598 ENSG00000099956 Coffin-Siris syndrome 3, 614608 (3), Autosomal dominant; {Rhabdoid tumor predisposition syndrome 1}, 609322 (3), Autosomal dominant; Rhabdoid tumors, somatic, 609322 (3); {Schwannomatosis-1, susceptibility to}, 162091 (3), Autosomal dominant Smarcb1 (MGI:1328366)
chr22 23834497 23839347 22q11.23 22q11.23 610305 DERL3 DER1-like domain family, member 3 DERL3 91319 ENSG00000099958 Derl3 (MGI:1917627)
chr22 23856702 23886111 22q11.2 22q11.23 610367 SLC2A11, GLUT11 Solute carrier family 2 (facilitated glucose transporter), member 11 SLC2A11 66035 ENSG00000133460
chr22 23894377 23895221 22q11.2 22q11.23 153620 MIF Macrophage migration inhibitory factor MIF 4282 ENSG00000240972 previously assigned to chr.19 {Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 (3) Mif (MGI:96982)
chr22 23971364 23979827 22q11.2 22q11.23 602750 DDT D-dopachrome tautomerase DDT 1652 ENSG00000099977 Ddt (MGI:1298381)
chr22 23980027 23983914 22q11.2 22q11.23 600437 GSTT2 Glutathione S-transferase theta-2 GSTT2 2953 ENSG00000099984 Gstt2 (MGI:106188)
chr22 24011191 24178627 22q11.2 22q11.23 604251 CABIN1, CAIN Calcineurin-binding protein 1 CABIN1 23523 ENSG00000099991 Cabin1 (MGI:1298375)
chr22 24181475 24189105 22q11.23 22q11.23 615825 SUSD2 Sushi domain-containing protein 2 SUSD2 56241 ENSG00000099994 Susd2 (MGI:1918983)
chr22 24219653 24245141 22q11.2 22q11.23 137168 GGT5 Gamma-glutamyltransferase 5 GGT5 2687 ENSG00000099998 Ggt5 (MGI:1346063)
chr22 24270816 24417739 22q11.23 22q11.23 614140 SPECC1L, KIAA0376, OBLFC1, GBBB2 Sperm antigen with calponin homology and coiled-coil domains 1-like SPECC1L 23384 ENSG00000100014 mutation identified in 1 OBLFC1 patient ?Facial clefting, oblique, 1, 600251 (3), Autosomal dominant; Opitz GBBB syndrome, type II, 145410 (3), Autosomal dominant Specc1l (MGI:1921642)
chr22 24423596 24442359 22q11.2 22q11.23 102776 ADORA2A Adenosine A2a receptor ADORA2A 135 ENSG00000128271 incorrectly assigned to 11q Adora2a (MGI:99402)
chr22 24495059 24528680 22q11.2 22q11.23 606673 UPB1, BUP1 Beta-ureidopropionase UPB1 51733 ENSG00000100024 Beta-ureidopropionase deficiency, 613161 (3), Autosomal recessive Upb1 (MGI:2143535)
chr22 24555649 24574963 22q11.23 22q11.23 601062 SNRPD3 Small nuclear ribonucleoprotein polypeptide D3 SNRPD3 6634 ENSG00000100028 Snrpd3 (MGI:1914582)
chr22 24583749 24629004 22q11.2 22q11.23 612346 GGT1, GGT Gamma-glutamyltransferase 1 GGT1 2678 ENSG00000100031 Glutathioninuria, 231950 (1), Autosomal recessive Ggt1 (MGI:95706)
chr22 24719033 24774719 22q11.2 22q11.23 610314 PIWIL3 PIWI-like 3 PIWIL3 440822 ENSG00000184571
chr22 25194243 25207616 22q11.2-q12.2 22q11.23 123630 CRYBB3, CRYB3, CATCN2, CTRCT22 Crystallin, beta-B3 CRYBB3 1417 ENSG00000100053 Cataract 22, 609741 (3), Autosomal recessive, Autosomal dominant Crybb3 (MGI:102717)
chr22 25211659 25231868 22q11.2-q12.2 22q11.23 123620 CRYBB2, CRYB2, CTRCT3, CCA2 Crystallin, beta-B2 CRYBB2 1415 ENSG00000244752 2nd CRYB2 gene in same region Cataract 3, multiple types, 601547 (3), Autosomal dominant Crybb2 (MGI:88519)
chr22 25500000 37200000 22q12 613106 BRV2 Vertigo, benign recurrent, 2 100313948 Vertigo, benign recurrent, 2, 613106 (2)
chr22 25500000 50818468 22q12-q13 603116 CDAGS Craniosynostosis, anal anomalies, and porokeratosis syndrome 574043 CDAGS syndrome, 603116 (2), Autosomal recessive
chr22 25500000 50818468 22q12-q13 613284 HCHGQ3 Hematocrit/hemoglobin quantitative trait locus 3 100381206 associated with rs855791 [Hematocrit/hemoglobin quantitative trait locus 3], 613284 (2)
chr22 25500000 31800000 22q12.1-q12.2 606960 ITS Insulinoma tumor suppressor gene locus 282551 Insulinoma (1)
chr22 25500000 37200000 22q12 608207 KAZA1 Kala-azar (visceral leishmaniasis), susceptibility to, 1 387582 {Kala-azar, susceptibility to, 1}, 608207 (2)
chr22 25500000 37200000 22q12 611004 SQTL2 Smoking as a quantitative trait locus 2 100188828 max lod at D22S315 {Smoking as a quantitative trait locus 2}, 611004 (2)
chr22 25564893 25729293 22q11 22q12.1 109636 ADRBK2, BARK2, GRK3 Adrenergic, beta, receptor kinase-2 GRK3 157 ENSG00000100077 Grk3 (MGI:87941)
chr22 25742132 26063846 22q12.1 22q12.1 607295 MYO18B, KFS4 Myosin XVIIIB MYO18B 84700 ENSG00000133454 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3), Autosomal recessive Myo18b (MGI:1921626)
chr22 26169473 26383596 22q12.1 22q12.1 607021 SEZ6L Seizure-related 6-like SEZ6L 23544 ENSG00000100095 Sez6l (MGI:1935121)
chr22 26443108 26483862 22q11.2-q12.2 22q12.1 606682 HPS4 HPS gene 4 HPS4 89781 ENSG00000100099 Hermansky-Pudlak syndrome 4, 614073 (3), Autosomal recessive Hps4 (MGI:2177742)
chr22 26483866 26494619 22q12.1 22q12.1 602254 SRRD SRR1 domain-containing protein SRRD 402055 ENSG00000100104 Srrd (MGI:1917368)
chr22 26491239 26513590 22q12.1 22q12.1 612747 TFIP11, TIP39, NTR1 Tuftelin-interacting protein 11 TFIP11 24144 ENSG00000100109 Tfip11 (MGI:1930075)
chr22 26524081 26590140 22q12.1 22q12.1 603126 TPST2 Tyrosylprotein phosphotransferase 2 TPST2 8459 ENSG00000128294 Tpst2 (MGI:1309516)
chr22 26599277 26618103 22q11.2-q12.1 22q12.1 600929 CRYBB1, CATCN3, CTRCT17 Crystallin, beta B1 CRYBB1 1414 ENSG00000100122 Cataract 17, multiple types, 611544 (3), Autosomal recessive, Autosomal dominant Crybb1 (MGI:104992)
chr22 26607981 26630671 22q11.2-q13.1 22q12.1 123631 CRYBA4, CTRCT23 Crystallin, beta polypeptide A4 CRYBA4 1413 ENSG00000196431 Cataract 23, 610425 (3) Cryba4 (MGI:102716)
chr22 26657481 26676477 22q12.1 22q12.1 611082 MIAT, C22orf35 MIAT gene MIAT 440823 {Myocardial infarction, susceptibility to}, 608446 (3)
chr22 27748276 27801497 22q12.3-qter 22q12.1 156100 MN1, MGCR Meningioma chromosome region MN1 4330 ENSG00000169184 fused with TEL in AML Meningioma, 607174 (3), Autosomal dominant Mn1 (MGI:1261813)
chr22 27851668 27919305 22q12.1 22q12.1 606876 PITPNB Phosphatidylinositol transfer protein, beta PITPNB 23760 ENSG00000180957 Pitpnb (MGI:1927542)
chr22 27978013 28679864 22q12.1 22q12.1 615098 TTC28, TPRBK, KIAA1043 Tetratricopeptide repeat domain-containing protein 28 TTC28 23331 ENSG00000100154 Ttc28 (MGI:2140873)
chr22 28687742 28741865 22q12.1 22q12.1 604373 CHEK2, RAD53, CHK2, CDS1, LFS2 Checkpoint kinase 2, S. pombe, homolog of (RAD53, S. cerevisiae, homolog of) CHEK2 11200 ENSG00000183765 {Breast and colorectal cancer, susceptibility to} (3); {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; Li-Fraumeni syndrome, 609265 (3); Osteosarcoma, somatic, 259500 (3); {Prostate cancer, familial, susceptibility to}, 176807 (3), Autosomal dominant Chek2 (MGI:1355321)
chr22 28741991 28757517 22q11-q12 22q12.1 608142 HSC20, HSCB, JAC1 HSC20, E. coli, homolog of HSCB 150274 ENSG00000100209 Hscb (MGI:2141135)
chr22 28794559 28800571 22q12 22q12.1 194355 XBP1, XBP2 X-box-binding protein-1 XBP1 7494 ENSG00000100219 pseudogene on chr.5 {Major affective disorder-7, susceptibility to}, 612371 (3) Xbp1 (MGI:98970)
chr22 28800656 29057487 22q12.1 22q12.1 612062 ZNRF3, KIAA1133 Zinc finger and ring finger protein 3 ZNRF3 84133 ENSG00000183579 Znrf3 (MGI:3039616)
chr22 29073077 29168332 22q12.1 22q12.1 609898 KREMEN1, KRM1, ECTD13 Kringle domain-containing transmembrane protein 1 KREMEN1 83999 ENSG00000183762 Ectodermal dysplasia 13, hair/tooth type, 617392 (3), Autosomal recessive Kremen1 (MGI:1933988)
chr22 29268008 29300524 22q12 22q12.2 133450 EWSR1, EWS Ewing sarcoma breakpoint region-1 EWSR1 2130 ENSG00000182944 t(11;22)(q24;q12); t(21;22)(q22;q12) Ewing sarcoma, 612219 (3); Neuroepithelioma, 612219 (3)
chr22 29306649 29312788 22q12 22q12.2 602128 GAS2L1, GAR22 Growth arrest-specific 2 like 1 GAS2L1 10634 ENSG00000185340 Gas2l1 (MGI:1926176)
chr22 29312932 29319617 22q12 22q12.2 602220 RASL10A, RRP22 Ras-like, family 10, member A RASL10A 10633 ENSG00000100276 Rasl10a (MGI:1922918)
chr22 29327679 29388582 22q12 22q12.2 600157 AP1B1, ADTB1, BAM22, CLAPB2 Adaptor-related protein complex 1, beta 1 subunit (adaptin, beta) AP1B1 162 ENSG00000100280 Ap1b1 (MGI:1096368)
chr22 29403030 29442489 22q12-q13 22q12.2 605968 RFPL1 RET finger protein-like 1 RFPL1 5988 ENSG00000128250
chr22 29437014 29442128 22q12-q13 22q12.2 605972 RFPL1S Ret finger protein-like 1, antisense RFPL1S 10740
chr22 29480191 29491289 22q12.2 22q12.2 162230 NEFH, CMT2CC Neurofilament, heavy polypeptide NEFH 4744 ENSG00000100285 mutation identified in 1 family with ALS susceptibility ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3), Autosomal dominant Nefh (MGI:97309)
chr22 29508166 29553759 22q12 22q12.2 612733 THOC5, FMIP THO complex 5 THOC5 8563 ENSG00000100296 Thoc5 (MGI:1351333)
chr22 29554807 29581336 22q12 22q12.2 603249 NIPSNAP1 4-nitrophenylphosphatase domain and nonneuronal SNAP25-like 1 NIPSNAP1 8508 ENSG00000184117 Nipsnap1 (MGI:1278344)
chr22 29603555 29698599 22q12.2 22q12.2 607379 NF2 Merlin NF2 4771 ENSG00000186575 loss of heterozygosity Meningioma, NF2-related, somatic, 607174 (3); Neurofibromatosis, type 2, 101000 (3), Autosomal dominant; Schwannomatosis, somatic, 162091 (3) Nf2 (MGI:97307)
chr22 29767368 29770412 22cen-q12 22q12.2 610843 UCRC Ubiquinol-cytochrome C reductase complex, 7.2kD subunit UQCR10 29796 ENSG00000184076 Uqcr10 (MGI:1913402)
chr22 29788607 29838303 22q12.2 22q12.2 614216 ASCC2, p100 Activating signal cointegrator 1 complex, subunit 2 ASCC2 84164 ENSG00000100325 Ascc2 (MGI:1922702)
chr22 29883164 30030867 22q12 22q12.2 603558 MTMR3 Myotubularin-related protein 3 MTMR3 8897 ENSG00000100330 Mtmr3 (MGI:1921552)
chr22 30240446 30257486 22q12.1-q12.2 22q12.2 159540 LIF, HILDA Leukemia inhibitory factor (cholinergic differentiation factor) LIF 3976 ENSG00000128342 distal to ES Lif (MGI:96787)
chr22 30262827 30266842 22q12.1-q12.2 22q12.2 165095 OSM Oncostatin M OSM 5008 ENSG00000099985 10kb from LIF Osm (MGI:104749)
chr22 30285117 30289626 22q12.2 22q12.2 617034 GATSL3, CASTOR1 GATS protein-like 3 CASTOR1 652968 ENSG00000239282 Gatsl3 (MGI:1919212)
chr22 30291989 30326965 22q12.1-qter 22q12.2 610020 TBC1D10A, EPI64 TBC1 domain family, member 10A TBC1D10A 83874 ENSG00000099992 Tbc1d10a (MGI:2144164)
chr22 30331987 30356946 22q12.2 22q12.2 605595 SF3A1, SF3A120, SAP114, PRP21 Splicing factor 3A, subunit 1 SF3A1 10291 ENSG00000099995 Sf3a1 (MGI:1914715)
chr22 30396940 30425302 22q12.1-qter 22q12.2 607558 SEC14L2, TAP, KIAA1186 Sec14-like 2 SEC14L2 23541 ENSG00000100003 Sec14l2 (MGI:1915065)
chr22 30425622 30429053 22q12.2 22q12.2 610235 MTFP1 Mitochondrial fission process 1 MTFP1 51537 ENSG00000242114 Mtfp1 (MGI:1916686)
chr22 30447958 30472046 22q12 22q12.2 612824 SEC14L3, TAP2 Sec14-like 3 SEC14L3 266629 ENSG00000100012 Sec14l3 (MGI:3617848)
chr22 30488149 30505710 22q12 22q12.2 612825 SEC14L4, TAP3 Sec14-like 4 SEC14L4 284904 ENSG00000133488 Sec14l4 (MGI:2144095)
chr22 30554634 30574587 22q12.2 22q12.2 602300 GAL3ST1, CST Galactose-3-O-sulfotransferase 1 GAL3ST1 9514 ENSG00000128242 Gal3st1 (MGI:1858277)
chr22 30576624 30607012 22q12.1 22q12.2 605819 PES1, PES Pescadillo, zebrafish, homolog of, 1 PES1 23481 ENSG00000100029 Pes1 (MGI:1890613)
chr22 30607082 30627059 22q11.2-qter 22q12.2 613441 TCN2, TC2 Transcobalamin II TCN2 6948 ENSG00000185339 linked to P1 Transcobalamin II deficiency, 275350 (3), Autosomal recessive Tcn2 (MGI:98534)
chr22 30693781 30907823 22q12 22q12.2 606729 OSBP2, ORP4, KIAA1664 Oxysterol-binding protein 2 OSBP2 23762 ENSG00000184792 Osbp2 (MGI:1921559)
chr22 30925129 30968286 22q12.2 22q12.2 616661 MORC2, ZCW3, ZCWCC1, KIAA0852, CMT2Z MORC family CW-type zinc finger protein 2 MORC2 22880 ENSG00000133422 Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3), Autosomal dominant Morc2a (MGI:1921772)
chr22 30969210 30979394 22q12.2 22q12.2 614971 TUG1 Taurine-upregulated gene 1, noncoding TUG1 55000
chr22 31081295 31104623 22q12.3 22q12.2 602127 SMTN Smoothelin SMTN 6525 ENSG00000183963 Smtn (MGI:1354727)
chr22 31104771 31107586 22q12.2 22q12.2 610918 SELENOM, SELM, SEPM Selenoprotein M SELENOM 140606 ENSG00000198832 Selenom (MGI:2149786)
chr22 31107735 31134696 22q11.2-q13.2 22q12.2 606481 INPP5J, PIB5PA, PIPP Inositol polyphosphate-5-phosphatase J INPP5J 27124 ENSG00000185133 Inpp5j (MGI:2158663)
chr22 31134806 31140606 22q11.2-q13.2 22q12.2 611651 PLA2G3, SPLA2III Phospholipase A2, group III PLA2G3 50487 ENSG00000100078 Pla2g3 (MGI:2444945)
chr22 31212263 31280079 22q12.2 22q12.2 601988 LIMK2 LIM domain kinase 2 LIMK2 3985 ENSG00000182541 Limk2 (MGI:1197517)
chr22 31325803 31346262 22q12 22q12.2 605165 ZNF278, PATZ, MAZR Zinc finger protein-278 PATZ1 23598 ENSG00000100105 Patz1 (MGI:1891832)
chr22 31434647 31489949 22q11.2 22q12.2 607445 EIF4ENIF1 Eukaryotic translation initiation factor 4E nuclear import factor 1 EIF4ENIF1 56478 ENSG00000184708 Eif4enif1 (MGI:1921453)
chr22 31496138 31618553 22q12.2 22q12.2 612765 SFI1, KIAA0542 SFI1, yeast, homolog of SFI1 9814 ENSG00000198089 Sfi1 (MGI:1926137)
chr22 31618490 31662563 22q12 22q12.2 612770 PISD, PSD, PSSC Phosphatidylserine decarboxylase PISD 23761 ENSG00000241878 Pisd (MGI:2445114)
chr22 31753950 31907033 22q12.2-q12.3 22q12.2-q12.3 614191 DEPDC5, KIAA0645, FFEVF1 DEP domain-containing protein 5 DEPDC5 9681 ENSG00000100150 Epilepsy, familial focal, with variable foci 1, 604364 (3), Autosomal dominant Depdc5 (MGI:2141101)
chr22 31800000 37200000 22q12.3 609558 HPC6 Prostate cancer, hereditary, 6 100188789 between D22S1265 and D22S277 {Prostate cancer, susceptibility to}, 176807 (2), Autosomal dominant
chr22 31800000 40600000 22q12.3-q13.1 613689 MDNS Mammary-digital-nail syndrome 100529148 max lod at D22S277, D22S1142, D22S683, D22S283 Mammary-digital-nail syndrome, 613689 (2), Autosomal dominant
chr22 31944492 31957602 22q12 22q12.3 113508 YWHAH, YWHA1 Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide 22 YWHAH 7533 ENSG00000128245 Ywhah (MGI:109194)
chr22 32043031 32113028 22q13.1 22q12.3 182380 SLC5A1, SGLT1 Solute carrier family 5 (sodium/glucose transporter), member 1 SLC5A1 6523 ENSG00000100170 Glucose/galactose malabsorption, 606824 (3), Autosomal recessive Slc5a1 (MGI:107678)
chr22 32190434 32204848 22q12-q13 22q12.3 605969 RFPL2 RET finger protein-like 2 RFPL2 10739 ENSG00000128253
chr22 32354884 32361160 22q12-q13 22q12.3 605970 RFPL3 RET finger protein-like 3 RFPL3 10738 ENSG00000128276
chr22 32359905 32371263 22q12-q13 22q12.3 605971 RFPL3S Ret finger protein-like 3, antisense RFPL3S 10737
chr22 32387574 32412286 22q12.3 22q12.3 613901 RTCB, C22orf28, HSPC117 RNA 2-prime, 3-prime cyclic phosphate and 5-prime-OH ligase RTCB 51493 ENSG00000100220 Rtcb (MGI:106379)
chr22 32413844 32464464 22q13 22q12.3 614109 BPIFC, BPIL2 BPI fold-containing protein, family C BPIFC 254240 ENSG00000184459 Bpifc (MGI:3026884)
chr22 32474681 32498830 22q12-q13 22q12.3 605648 FBXO7, FBX7, FBX, PKPS, PARK15 F-box only protein 7 FBXO7 25793 ENSG00000100225 Parkinson disease 15, autosomal recessive, 260300 (3), Autosomal recessive Fbxo7 (MGI:1917004)
chr22 32507819 33058390 22q12.3 22q12.3 602705 SYN3 Synapsin III SYN3 8224 ENSG00000185666 ?relation to schizophrenia Syn3 (MGI:1351334)
chr22 32800815 32863040 22q12.1-q13.2 22q12.3 188826 TIMP3, SFD Tissue inhibitor of metalloproteinase-3 TIMP3 7078 ENSG00000100234 Sorsby fundus dystrophy, 136900 (3), Autosomal dominant Timp3 (MGI:98754)
chr22 33162236 33922840 22q12.3-q13.1 22q12.3 603590 LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6 Acetylglucosaminyltransferase-like protein LARGE1 9215 ENSG00000133424 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3), Autosomal recessive Large1 (MGI:1342270)
chr22 35066135 35087386 22q12.3 22q12.3 612019 ISX, RAXLX Intestine-specific homeobox ISX 91464 ENSG00000175329 Isx (MGI:1918847)
chr22 35256696 35295806 22q13.1 22q12.3 604702 HMGXB4, HMG2L1 HMG box domain-containing 4 HMGXB4 10042 ENSG00000100281 Hmgxb4 (MGI:1918073)
chr22 35299274 35347993 22q13.1 22q12.3 604700 TOM1 Target of MYB1, chicken, homolog of TOM1 10043 ENSG00000100284 Tom1 (MGI:1338026)
chr22 35381066 35394213 22q12 22q12.3 141250 HMOX1, HMOX1D Heme oxygenase 1 HMOX1 3162 ENSG00000100292 Heme oxygenase-1 deficiency, 614034 (3); {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3) Hmox1 (MGI:96163)
chr22 35400122 35454941 22q13.1 22q12.3 602696 MCM5, CDC46, MGORS8 Minichromosome maintenance, S. cerevisiae, homolog of, 5 MCM5 4174 ENSG00000100297 mutation identified in 1 MGORS8 patient ?Meier-Gorlin syndrome 8, 617564 (3), Autosomal recessive Mcm5 (MGI:103197)
chr22 35540500 35554002 22q12.3 22q12.3 612842 RASD2, RHES, TEM2 RASD family, member 2 RASD2 23551 ENSG00000100302 Rasd2 (MGI:1922391)
chr22 35606763 35623353 22q11.2-q13 22q12.3 160000 MB Myoglobin MB 4151 ENSG00000198125 Mb (MGI:96922)
chr22 35648315 35668408 22q12.3 22q12.3 607256 APOL6 Apolipoprotein L6 APOL6 80830 ENSG00000221963 Apol6 (MGI:1919189)
chr22 35708423 35730324 22q12.3 22q12.3 607255 APOL5 Apolipoprotein L5 APOL5 80831 ENSG00000128313
chr22 35738733 36028891 22q13.1 22q12.3 612149 RBFOX2, RBM9, FOX2, RTA RNA binding protein, fox-1 homolog 2 RBFOX2 23543 ENSG00000100320 Rbfox2 (MGI:1933973)
chr22 36140322 36166176 22q12.3 22q12.3 607253 APOL3 Apolipoprotein L3 APOL3 80833 ENSG00000128284
chr22 36189127 36204832 22q12.3 22q12.3 607254 APOL4 Apolipoprotein L4 APOL4 80832 ENSG00000100336 {Schizophrenia}, 181500 (1), Autosomal dominant
chr22 36226208 36239953 22q12.3 22q12.3 607252 APOL2 Apolipoprotein L2 APOL2 23780 ENSG00000128335 {Schizophrenia}, 181500 (1), Autosomal dominant Apol8 (MGI:2444921)
chr22 36253070 36267530 22q12.3 22q12.3 603743 APOL1, FSGS4 Apolipoprotein L1 APOL1 8542 ENSG00000100342 {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3); {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
chr22 36281276 36388066 22q11.2 22q12.3 160775 MYH9, MHA, FTNS, DFNA17, BDPLT6 Myosin, heavy polypeptide-9, nonmuscle MYH9 4627 ENSG00000100345 Deafness, autosomal dominant 17, 603622 (3), Autosomal dominant; Epstein syndrome, 153650 (3), Autosomal dominant; Fechtner syndrome, 153640 (3), Autosomal dominant; Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3), Autosomal dominant; May-Hegglin anomaly, 155100 (3), Autosomal dominant; Sebastian syndrome, 605249 (3), Autosomal dominant Myh9 (MGI:107717)
chr22 36467035 36482024 22q12.3 22q12.3 609063 TXN2, TRX2, MTRX, COXPD29 Thioredoxin 2 TXN2 25828 ENSG00000100348 mutation identified in 1 COXPD29 patient ?Combined oxidative phosphorylation deficiency 29, 616811 (3), Autosomal recessive Txn2 (MGI:1929468)
chr22 36487185 36507100 22q12.3 22q12.3 613777 FOXRED2, ERFAD FAD-dependent oxidoreductase domain-containing protein 2 FOXRED2 80020 ENSG00000100350 Foxred2 (MGI:106315)
chr22 36510849 36529229 22q13.1 22q12.3 603915 EIF3D, EIF3S7 Eukaryotic translation initiation factor 3, subunit D EIF3D 8664 ENSG00000100353 Eif3d (MGI:1933181)
chr22 36560868 36702857 22q13.1 22q12.3 602911 CACNG2, MRD10 Calcium channel, voltage-dependent, gamma-2 subunit (stargazin) CACNG2 10369 ENSG00000166862 mutation identified one MRD10 patient ?Mental retardation, autosomal dominant 10, 614256 (3) Cacng2 (MGI:1316660)
chr22 36758201 36776132 22q12.3 22q12.3 615870 IFT27, RABL4, BBS19 Intraflagellar transport 27, Chlamydomonas, homolog of IFT27 11020 ENSG00000100360 mutation identified in 1 BBS19 family ?Bardet-Biedl syndrome 19, 615996 (3), Autosomal recessive Ift27 (MGI:1914292)
chr22 36800700 36819472 22q12-q13.1 22q12.3 168890 PVALB Parvalbumin PVALB 5816 ENSG00000100362 ?role in DiGeorge syndrome Pvalb (MGI:97821)
chr22 36860987 36878016 22q13.1 22q12.3 601488 NCF4, P40PHOX, CGD3 Neutrophil cytosolic factor-4 NCF4 4689 ENSG00000100365 mutation identified in 1 CGD3 patient ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3), Autosomal recessive Ncf4 (MGI:109186)
chr22 36913573 36940448 22q12.2-q13.1 22q12.3 138981 CSF2RB, SMDP5 Colony-stimulating factor-2 receptor, beta, low-affinity CSF2RB 1439 ENSG00000100368 Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3), Autosomal recessive Csf2rb2,Csf2rb (MGI:1339759,MGI:1339760)
chr22 37010858 37020182 22q11.2-qter 22q12.3 180370 TST, RDS Thiosulfate sulfurtransferase (Rhodanese) TST 7263 ENSG00000128311 Tst (MGI:98852)
chr22 37019641 37029821 22q11.2-qter 22q12.3 602496 MPST Mercaptopyruvate sulfurtransferase MPST 4357 ENSG00000128309 Mpst (MGI:2179733)
chr22 37051724 37063389 22q12.3 22q12.3 616386 KCTD17 Potassium channel tetramerization domain-containing protein 17 KCTD17 79734 ENSG00000100379 Dystonia 26, myoclonic, 616398 (3), Autosomal dominant Kctd17 (MGI:1920094)
chr22 37065435 37110624 22q12-q13 22q12.3 609862 TMPRSS6, IRIDA Transmembrane protease, serine 6 (matriptase 2) TMPRSS6 164656 ENSG00000187045 Iron-refractory iron deficiency anemia, 206200 (3), Autosomal recessive Tmprss6 (MGI:1919003)
chr22 37125837 37175117 22q11.2-q13 22q12.3 146710 IL2RB Interleukin-2 receptor, beta polypeptide IL2RB 3560 ENSG00000100385 Il2rb (MGI:96550)
chr22 37180165 37199400 22q12.3 22q12.3 614910 C1QTNF6, CTFP6 C1q- and tumor necrosis factor-related protein 6 C1QTNF6 114904 ENSG00000133466 C1qtnf6 (MGI:1919959)
chr22 37200000 50818468 22q13 615538 DUP22q13, C22DUPq13 Chromosome 22q13 duplication syndrome Chromosome 22q13 duplication syndrome, 615538 (4), Isolated cases
chr22 37200000 50818468 22q13 610873 MENAQ1 Menarche, age at, QTL 1 100188822 max lod at UT7136 {Menarche, age at, QTL}, 610873 (2)
chr22 37200000 50818468 22q13 613282 NAFLD1 Fatty liver disease, nonalcoholic, susceptibility to, 1 100380876 associated with rs738409 {Fatty liver disease, nonalcoholic, susceptibility to, 1}, 613282 (2), Multifactorial
chr22 37200000 50818468 22q13 612417 NRCLP4 Narcolepsy 4 100216484 associated with rs5770917 {Narcolepsy 4}, 612417 (2)
chr22 37204236 37220450 22q13.1 22q13.1 182453 SSTR3 Somatostatin receptor-3 SSTR3 6753 ENSG00000278195 Sstr3 (MGI:98329)
chr22 37225260 37244298 22q12.3-q13.2 22q13.1 602049 RAC2 Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2) RAC2 5880 ENSG00000128340 Neutrophil immunodeficiency syndrome, 608203 (3) Rac2 (MGI:97846)
chr22 37282382 37315347 22q12.3-q13.1 22q13.1 606514 CYTH4, PSCD4, CYT4 Cytohesin 4 CYTH4 27128 ENSG00000100055 Cyth4 (MGI:2441702)
chr22 37469062 37486439 22q12 22q13.1 602577 MFNG Manic fringe MFNG 4242 ENSG00000100060 Mfng (MGI:1095404)
chr22 37490361 37519202 22q13.1 22q13.1 607209 CARD10, CARMA3, BIMP1 Caspase recruitment domain-containing protein 10 CARD10 29775 ENSG00000100065 Card10 (MGI:2146012)
chr22 37559777 37569404 22q13.1 22q13.1 606084 CDC42EP1, MSE55, BORG5, CEP1 CDC42 effector protein 1 CDC42EP1 11135 ENSG00000128283 Cdc42ep1 (MGI:1929763)
chr22 37570245 37580016 22q13.1 22q13.1 150571 LGALS2 Lectin, galactoside-binding, soluble, 2 LGALS2 3957 ENSG00000100079 {Myocardial infarction, susceptibility to}, 608446 (3) Lgals2 (MGI:895068)
chr22 37608473 37633563 22q13.31 22q13.1 606004 GGA1 Golgi associated, gamma adaptin ear containing, ARF binding protein 1 GGA1 26088 ENSG00000100083 Gga1 (MGI:2146207)
chr22 37639474 37656118 22q13.1 22q13.1 617368 SH3BP1, ARHGAP43, BGIN SH3 domain-binding protein 1 SH3BP1 23616 ENSG00000100092 Sh3bp1 (MGI:104603)
chr22 37675605 37679801 22q12-q13.1 22q13.1 150570 LGALS1 Lectin, galactose-binding, soluble, 1 LGALS1 3956 ENSG00000100097 Lgals1 (MGI:96777)
chr22 37696987 37776555 22q13.1 22q13.1 609761 TRIOBP, KIAA1662 Trio- and F-actin-binding protein TRIOBP 11078 ENSG00000100106 Deafness, autosomal recessive 28, 609823 (3), Autosomal recessive Triobp (MGI:1349410)
chr22 37805106 37807435 22q13.1 22q13.1 142708 H1F0, H1FV H1 histone family, member 0 H1F0 3005 ENSG00000189060 H1f0 (MGI:95893)
chr22 37807893 37817176 22q12-q13 22q13.1 607422 GCAT, KBL Glycine C-acetyltransferase GCAT 23464 ENSG00000100116 Gcat (MGI:1349389)
chr22 37823381 37825494 22q12.2-q13.1 22q13.1 603692 GALR3 Galanin receptor 3 GALR3 8484 ENSG00000128310 Galr3 (MGI:1329003)
chr22 37830852 37849317 22q13.1 22q13.1 613383 ANKRD54, LIAR Ankyrin repeat domain-containing protein 54 ANKRD54 129138 ENSG00000100124 Ankrd54 (MGI:2444209)
chr22 37847677 37847773 22q13.1 22q13.1 613556 MIR659 Micro RNA 659 MIR659 724029
chr22 37953662 38041914 22q13.1 22q13.1 604414 POLR2F Polymerase II, RNA, subunit F POLR2F 5435 ENSG00000100142 Polr2f (MGI:1349393)
chr22 37972311 37984531 22q13 22q13.1 602229 SOX10, WS4, WS4C, PCWH SRY (sex-determining region Y)-box-10 SOX10 6663 ENSG00000100146 megacolon and spotting in mice PCWH syndrome, 609136 (3), Autosomal dominant; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3), Autosomal dominant; Waardenburg syndrome, type 4C, 613266 (3), Autosomal dominant Sox10 (MGI:98358)
chr22 38056310 38075703 22q12.3-q13.2 22q13.1 605926 PICK1, PRKCABP Protein interacting with C kinase 1 PICK1 9463 ENSG00000100151 Pick1 (MGI:894645)
chr22 38078136 38083162 22q12.3-q13.2 22q13.1 610409 SLC16A8, MCT3 Solute carrier family 16 (monocarboxylic acid transporter), member 8 SLC16A8 23539 ENSG00000100156 Slc16a8 (MGI:1929519)
chr22 38084888 38110943 22q13.1 22q13.1 617536 BAIAP2L2, PINKBAR Bai1-associated protein 2-like 2 BAIAP2L2 80115 ENSG00000128298 Baiap2l2 (MGI:2652819)
chr22 38111494 38192099 22q13.1 22q13.1 603604 PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14 Phospholipase A2, group VI PLA2G6 8398 ENSG00000184381 Infantile neuroaxonal dystrophy 1, 256600 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 2B, 610217 (3), Autosomal recessive; Parkinson disease 14, autosomal recessive, 612953 (3), Autosomal recessive Pla2g6 (MGI:1859152)
chr22 38201931 38216510 22q12.2-q13.2 22q13.1 604877 MAFF v-MAF avian musculoaponeurotic fibrosarcoma oncogene family, protein F MAFF 23764 ENSG00000185022 Maff (MGI:96910)
chr22 38290690 38318083 22q12-q13 22q13.1 600863 CSNK1E Casein kinase-1, epsilon CSNK1E 1454 ENSG00000213923 Csnk1e (MGI:1351660)
chr22 38426326 38455198 22q13.1 22q13.1 600504 KCNJ4, HIR Potassium inwardly-rectifying channel, subfamily J, member 4 KCNJ4 3761 ENSG00000168135 Kcnj4 (MGI:104743)
chr22 38483437 38506339 22q13.1 22q13.1 608469 DDX17, RH70, P72 DEAD/H box-17 DDX17 10521 ENSG00000100201 Ddx17 (MGI:1914290)
chr22 38509153 38570285 22q13.1 22q13.1 602721 DMC1, LIM15 Disrupted meiotic cDNA 1, yeast, homolog of DMC1 11144 ENSG00000100206 Dmc1 (MGI:105393)
chr22 38656652 38673849 22q12-q13 22q13.1 607757 CBY, C22orf2, HS508I15A Chibby CBY1 25776 ENSG00000100211 Cby1 (MGI:1920989)
chr22 38681948 38684759 22q12-q13 22q13.1 607046 TOMM22, TOM22 Translocase of outer mitochondrial membrane 22, yeast, homolog of TOMM22 56993 ENSG00000100216 Tomm22 (MGI:2450248)
chr22 38683915 38701417 22q13.1 22q13.1 615323 JOSD1, KIAA0063 Josephin domain-containing protein 1 JOSD1 9929 ENSG00000100221
chr22 38704560 38738264 22q12-q13.1 22q13.1 602245 GTPBP1, GP1 GTP-binding protein 1 GTPBP1 9567 ENSG00000100226 Gtpbp1 (MGI:109443)
chr22 38734713 38756018 22q12-q13 22q13.1 613569 SUN2, UNC84B, KIAA0668 SAD1 and UNC84 domain-containing protein 2 SUN2 25777 ENSG00000100242 Sun2 (MGI:2443011)
chr22 38778507 38794155 22q13.1 22q13.1 610565 DNAL4, MRMV3 Dynein, axonemal, light chain 4 DNAL4 10126 ENSG00000100246 mutation identified in 1 MRMV3 family ?Mirror movements 3, 616059 (3), Autosomal recessive Dnal4 (MGI:1859217)
chr22 38861426 38872333 22q13.1 22q13.1 617438 CBX6 Chromobox homolog 6 CBX6 23466 ENSG00000183741 Cbx6 (MGI:3512628)
chr22 38957521 38963182 22q13 22q13.1 607109 APOBEC3A, PHRBN Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (phorbolin 1) APOBEC3A 200315 ENSG00000128383
chr22 38982398 38992778 22q13 22q13.1 607110 APOBEC3B, PHRBNL Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B APOBEC3B 9582 ENSG00000179750 Apobec3 (MGI:1933111)
chr22 39014235 39020351 22q13 22q13.1 607750 APOBEC3C Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3C APOBEC3C 27350 ENSG00000244509
chr22 39019080 39055971 22q12-q13.2 22q13.1 608993 APOBEC3F Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3F APOBEC3F 200316 ENSG00000128394
chr22 39077004 39087742 22q12-q13.2 22q13.1 607113 APOBEC3G, MDS019, CEM15, FLJ12740 Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3G APOBEC3G 60489 ENSG00000239713
chr22 39097202 39104066 22q13.1 22q13.1 610976 APOBEC3H, ARP10 Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H APOBEC3H 164668 ENSG00000100298
chr22 39130771 39152649 22q13.1 22q13.1 608457 CBX7 Chromobox homolog 7 CBX7 23492 ENSG00000100307 Cbx7 (MGI:1196439)
chr22 39223358 39245054 22q12.3-q13.1 22q13.1 190040 PDGFB, SIS, IBGC5 Platelet-derived growth factor, beta polypeptide (oncogene SIS) PDGFB 5155 ENSG00000100311 fused with COL1A1 in DFSP Basal ganglia calcification, idiopathic, 5, 615483 (3), Autosomal dominant; Dermatofibrosarcoma protuberans, 607907 (3); Meningioma, SIS-related, 607174 (3), Autosomal dominant Pdgfb (MGI:97528)
chr22 39312881 39319664 22q 22q13.1 604163 RPL3 Ribosomal protein L3 RPL3 6122 ENSG00000100316 Rpl3 (MGI:1351605)
chr22 39313818 39313910 22q13 22q13.1 611071 SNORD83B, RNU83B Small nucleolar RNA, C/D box, 83B SNORD83B 116938
chr22 39315212 39315306 22q13 22q13.1 611070 SNORD83A, RNU83A Small nucleolar RNA, C/D box, 83A SNORD83A 116937
chr22 39316841 39316895 22q13 22q13.1 611069 RNU86 RNA, U86 small nucleolar SNORD139 116936
chr22 39319051 39319112 22q13 22q13.1 611068 SNORD43, RNU43 Small nucleolar RNA, C/D box, 43 SNORD43 26807
chr22 39349948 39385587 22q13 22q13.1 603925 SYNGR1 Synaptogyrin 1 SYNGR1 9145 ENSG00000100321 Syngr1 (MGI:1328323)
chr22 39399753 39437126 22q13.1 22q13.1 602615 TAB1, MAP3K7IP1 Tak1 (MAP3K7) binding protein 1 TAB1 10454 ENSG00000100324 Tab1 (MGI:1913763)
chr22 39447166 39492193 22q13.1 22q13.1 604621 MGAT3, GNT3 Beta-1,4-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase MGAT3 4248 ENSG00000128268 Mgat3 (MGI:104532)
chr22 39500099 39518133 22q13.1 22q13.1 615497 MEIF1, SMCR7L, MID51 Mitochondrial elongation factor 1 MIEF1 54471 ENSG00000100335 Mief1 (MGI:2146020)
chr22 39514493 39522685 22q13.1 22q13.1 604064 ATF4, CREB2, TAXREB67 Activating transcription factor 4 ATF4 468 ENSG00000128272 Atf4 (MGI:88096)
chr22 39529092 39532854 22q13.1 22q13.1 610225 RPS19BP1, S19BP, MGC52010 Ribosomal protein S19 binding protein 1 RPS19BP1 91582 ENSG00000187051 Rps19bp1 (MGI:1913788)
chr22 39570752 39689736 22q13.1 22q13.1 608230 CACNA1I, KIAA1120 Calcium channel, voltage-dependent, T type, alpha-1I subunit CACNA1I 8911 ENSG00000100346 Cacna1i (MGI:2178051)
chr22 39901072 39973342 22q12-qter 22q13.1 604518 GRAP2, GRID GRB2-related adaptor protein 2 GRAP2 9402 ENSG00000100351 Grap2 (MGI:1333842)
chr22 40044816 40335807 22q13.1 22q13.1 610740 TNRC6B, KIAA1093 Trinucleotide repeat-containing gene 6B TNRC6B 23112 ENSG00000100354 Tnrc6b (MGI:2443730)
chr22 40346499 40387407 22q13.1 22q13.1 608222 ADSL Adenylosuccinate lyase ADSL 158 ENSG00000239900 ade(-)I; bifunctional Adenylosuccinase deficiency, 103050 (3), Autosomal recessive Adsl (MGI:103202)
chr22 40370561 40410288 22q13.1 22q13.1 610440 SGSM3, RUTBC3, MAP, RUSC3 Small G protein signaling modulator 3 SGSM3 27352 ENSG00000100359 Sgsm3 (MGI:1916329)
chr22 40410280 40636861 22q13 22q13.1-q13.2 606078 MKL1, AMKL, MAL Megakaryoblastic leukemia 1 gene MKL1 57591 ENSG00000196588 fusion with RBM15 Megakaryoblastic leukemia, acute (3) Mkl1 (MGI:2384495)
chr22 40679177 40682813 22q13.3 22q13.2 601751 MCHR1, GPR24, SLC1 Melanin-concentrating hormone receptor 1 MCHR1 2847 ENSG00000128285 Mchr1 (MGI:2180756)
chr22 40769629 40819398 22q13 22q13.2 606795 SLC25A17, PMP34 Solute carrier family 25 (mitochondrial carrier), member 17 (peroxisomal membrane protein, 34kD) SLC25A17 10478 ENSG00000100372 Slc25a17 (MGI:1342248)
chr22 40824534 40857007 22q13 22q13.2 606796 ST13, P48, HOP Suppression of tumorigenicity 13 ST13 6767 ENSG00000100380 St13 (MGI:1917606)
chr22 40857080 40932818 22q13.31-q13.33 22q13.2 613553 XPNPEP3, APP3, NPHPL1 X-prolyl aminopeptidase 3 XPNPEP3 63929 ENSG00000196236 Nephronophthisis-like nephropathy 1, 613159 (3), Autosomal recessive
chr22 40859548 40862125 22q13.2 22q13.2 611336 DNAJB7, DJ5, HSC3 DNAJ/HSP40 homolog, subfamily B, member 7 DNAJB7 150353 ENSG00000172404 Dnajb7 (MGI:1914012)
chr22 40951346 40973014 22q13.2 22q13.2 603814 RBX1, ROC1 RING-box 1 RBX1 9978 ENSG00000100387 Rbx1-ps (MGI:3710517)
chr22 41092585 41180076 22q13 22q13.2 602700 EP300, RSTS2 E1A-binding protein, 300kD EP300 2033 ENSG00000100393 Colorectal cancer, somatic, 114500 (3); Rubinstein-Taybi syndrome 2, 613684 (3), Autosomal dominant Ep300 (MGI:1276116)
chr22 41205191 41231270 22q13.3 22q13.2 611865 L3MBTL2, L3MBT L3MBT-like 2 L3MBTL2 83746 ENSG00000100395 L3mbtl2 (MGI:2443584)
chr22 41229509 41241770 22q13.2 22q13.2 616236 CHADL Chondroadherin-like CHADL 150356 ENSG00000100399 Chadl (MGI:3036284)
chr22 41244776 41302212 22q13.2 22q13.2 602362 RANGAP1 GTPase-activating protein, RAN, 1 RANGAP1 5905 ENSG00000100401 Rangap1 (MGI:103071)
chr22 41367332 41399327 22q13 22q13.2 188595 TEF Thyrotroph embryonic factor TEF 7008 ENSG00000167074 Tef (MGI:98663)
chr22 41433487 41448229 22q13.1-q13.31 22q13.2 607396 TOB2, KIAA1663 Transducer of erbb2, 2 TOB2 10766 ENSG00000183864 Tob2 (MGI:1888525)
chr22 41459716 41468703 22q13.2 22q13.2 617846 PHF5A, SF3B7, SF3B14B PHD finger protein 5A PHF5A 84844 ENSG00000100410 Phf5a (MGI:2156864)
chr22 41468755 41528988 22q13.2 22q13.2 100850 ACO2, ICRD, OPA9 Aconitase, mitochondrial ACO2 50 ENSG00000100412 distal to Ph1 break; mutation identified in 1 OPA9 family Infantile cerebellar-retinal degeneration, 614559 (3), Autosomal recessive; ?Optic atrophy 9, 616289 (3), Autosomal recessive Aco2 (MGI:87880)
chr22 41561009 41576665 22q13.2 22q13.2 617689 CSDC2, PIPPIN Cold-shock domain-containing protein C2 CSDC2 27254 ENSG00000172346 Csdc2 (MGI:2146027)
chr22 41576885 41589866 22q13.1 22q13.2 601786 PMM1 Phosphomannomutase 1 PMM1 5372 ENSG00000100417 Pmm1 (MGI:1353418)
chr22 41598027 41621076 22q13.2 22q13.2 614637 DESI1, PPPDE2 Desumoylating isopeptidase 1 DESI1 27351 ENSG00000100418 Desi1 (MGI:106313)
chr22 41621162 41664047 22q11-q13 22q13.2 152690 XRCC6, G22P1, TLAA, Ku70 X-ray repair, complementing defecting, in chinese hamster, 6 XRCC6 2547 ENSG00000196419 tight linkage to CYP2D Xrcc6 (MGI:95606)
chr22 41673932 41690491 22q13.2 22q13.2 601304 NHP2L1 Non-histone chromosome protein 2, S. cerevisiae, like 1 SNU13 4809 ENSG00000100138 previously assigned to 12q24.3 by FISH Snu13 (MGI:893586)
chr22 41833078 41907307 22q13 22q13.2 600481 SREBF2 Sterol regulatory element binding transcription factor 2 SREBF2 6721 ENSG00000198911 Srebf2 (MGI:107585)
chr22 41900943 41901011 22q13.2 22q13.2 612156 MIR33A, MIRN33A Micro RNA 33A MIR33A 407039
chr22 41906048 41915094 22q13.2 22q13.2 617329 SHISA8 Shisa family, member 8 SHISA8 440829 ENSG00000234965 Shisa8 (MGI:2146080)
chr22 41925031 41926816 22q13.1-q13.31 22q13.2 606269 TNFRSF13C, BAFFR, CVID4 Tumor necrosis factor receptor superfamily, member 13C TNFRSF13C 115650 ENSG00000159958 Immunodeficiency, common variable, 4, 613494 (3), Autosomal recessive Tnfrsf13c (MGI:1919299)
chr22 41927746 41947163 22q13.31 22q13.2 610152 PANE1, C22orf18 Proliferation-associated nuclear element 1 CENPM 79019 ENSG00000100162 Cenpm (MGI:1913820)
chr22 41969454 41998220 22q13.2 22q13.2 608314 SEPT3, SEP3 Septin 3 SEPT3 55964 ENSG00000100167 Sept3 (MGI:1345148)
chr22 41995102 42059401 22q13.2 22q13.2 610981 WBP2NL, PAWP WWBP2 N-terminal-like protein WBP2NL 164684 ENSG00000183066 Wbp2nl (MGI:1921966)
chr22 42058333 42070895 22q11 22q13.2 104170 NAGA Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B) NAGA 4668 ENSG00000198951 proximal to Ph1 break Kanzaki disease, 609242 (3), Autosomal recessive; Schindler disease, type I, 609241 (3), Autosomal recessive; Schindler disease, type III, 609241 (3), Autosomal recessive Naga (MGI:1261422)
chr22 42074243 42079437 22q13.2 22q13.2 614240 FAM109B, SES2, IPIP27B Family with sequence similarity 109, member B PHETA2 150368 ENSG00000177096 Fam109b (MGI:2443609)
chr22 42079690 42084283 22q13.2 22q13.2 615588 SMDT1, EMRE, C22orf32 Single-pass membrane protein with aspartate-rich tail 1 SMDT1 91689 ENSG00000183172 Smdt1 (MGI:1916279)
chr22 42085525 42090954 22q13.1 22q13.2 602138 NDUFA6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 NDUFA6 4700 ENSG00000184983 previously assigned to 21q22 Ndufa6 (MGI:1914380)
chr22 42126498 42130880 22q13.1 22q13.2 124030 CYP2D6, CPD6, P450DB1 Cytochrome P450, subfamily IID, polypeptide 6 CYP2D6 1565 ENSG00000100197 {Codeine sensitivity}, 608902 (3), Autosomal recessive; {Debrisoquine sensitivity}, 608902 (3), Autosomal recessive
chr22 42160012 42283926 22q13.3 22q13.2 603107 TCF20, SPBP, AR1 Transcription factor 20 TCF20 6942 ENSG00000100207 Tcf20 (MGI:108399)
chr22 42380406 42438154 22q13.2 22q13.2 608740 NFAM1, CNAIP NFAT activating protein with ITAM motif 1 NFAM1 150372 ENSG00000235568 Nfam1 (MGI:1921289)
chr22 42500578 42512559 22q13.2 22q13.2 607979 SERHL Serine hydrolase-like SERHL 94009
chr22 42583720 42614961 22q13.2 22q13.2 611520 POLDIP3, SKAR, PDIP46 Polymerase delta-interacting protein 3 POLDIP3 84271 ENSG00000100227 Poldip3 (MGI:1921076)
chr22 42617839 42649398 22q13.31-qter 22q13.2 613213 CYB5R3, DIA1, B5R Cytochrome b5 reductase 3 CYB5R3 1727 ENSG00000100243 Methemoglobinemia, type I, 250800 (3), Autosomal recessive; Methemoglobinemia, type II, 250800 (3), Autosomal recessive
chr22 42692111 42721300 22q13.2 22q13.2 607922 A4GALT, P1PK Alpha 1,4-galactosyltransferase A4GALT 53947 ENSG00000128274 [Blood group, P1Pk system, P(2) phenotype], 111400 (3); [Blood group, P1Pk system, p phenotype], 111400 (3); NOR polyagglutination syndrome, 111400 (3) A4galt (MGI:3512453)
chr22 42796525 42857401 22q13.2 22q13.2 612439 ARFGAP3 ADP-ribosylation factor GTPase-activating protein 3 ARFGAP3 26286 ENSG00000242247 Arfgap3 (MGI:1913501)
chr22 42869765 43016173 22q13.2 22q13.2 604960 PACSIN2 Protein kinase C and casein kinase substrate in neurons 2 PACSIN2 11252 ENSG00000100266 Pacsin2 (MGI:1345153)
chr22 43039515 43089427 22q13.1 22q13.2 608955 TTLL1, KIAA0173 tubulin tyrosine ligase-like protein 1 TTLL1 25809 ENSG00000100271 Ttll1 (MGI:2443047)
chr22 43110747 43129711 22q13.3 22q13.2 603392 BIK, NBK Bcl2-interacting killer BIK 638 ENSG00000100290 Bik (MGI:1206591)
chr22 43132205 43143396 22q13.31 22q13.2 614479 MCAT Malonyl CoA:ACP acyltransferase, mitochondrial MCAT 27349 ENSG00000100294 Mcat (MGI:2388651)
chr22 43151513 43163241 22q13.31 22q13.2 109610 TSPO, BZRP, PBR, PBS, BPBS Translocator protein, 18kD (benzodiazepine receptor, peripheral type) TSPO 706 ENSG00000100300 Tspo (MGI:88222)
chr22 43203222 43343387 22q13 22q13.2 611746 SCUBE1 Signal peptide-, CUB domain-, and EGF-like domains-containing protein 1 SCUBE1 80274 ENSG00000159307 Scube1 (MGI:1890616)
chr22 43412013 43507847 22q13.31 22q13.2 602112 MPPED1, C22orf1, 239AB Metallophosphoesterase domain-containing protein 1 MPPED1 758 ENSG00000186732 Mpped1 (MGI:106316)
chr22 43824506 43862497 22q13.31 22q13.31 608359 SULT4A1, BRSTL1 Sulfotransferase family 4A, member 1 SULT4A1 25830 ENSG00000130540 Sult4a1 (MGI:1888971)
chr22 43879677 43892012 22q13.31 22q13.31 611589 PNPLA5, GS2L Patatin-like phospholipase domain-containing 5 PNPLA5 150379 ENSG00000100341 Pnpla5 (MGI:1923022)
chr22 43923738 43947567 22q13 22q13.31 609567 PNPLA3, ADPN Patatin-like phospholipase domain-containing protein 3 PNPLA3 80339 ENSG00000100344 Pnpla3 (MGI:2151796)
chr22 43955380 43996531 22q13.31 22q13.31 612058 SAMM50, SAM50 Sorting and assembly machinery component 50, S. cerevisiae, homolog of SAMM50 25813 ENSG00000100347 Samm50 (MGI:1915903)
chr22 43999163 44169232 22q13.31 22q13.31 608121 PARVB Parvin, beta PARVB 29780 ENSG00000188677 Parvb (MGI:2153063)
chr22 44170227 44208468 22q13.31 22q13.31 608122 PARVG Parvin, gamma PARVG 64098 ENSG00000138964 Parvg (MGI:2158329)
chr22 44668546 44737680 22q13.31 22q13.31 609406 PRR5, PP610 Proline-rich protein 5 PRR5 55615 ENSG00000186654 Prr5 (MGI:1924714)
chr22 44752557 44862783 22q13.31 22q13.31 609405 ARHGAP8, BPGAP1 GTPase-activating protein, RHO, 8 ARHGAP8 23779 ENSG00000241484 Arhgap8 (MGI:1920417)
chr22 44881161 45009927 22q13.31 22q13.31 616727 PHF21B, PHF4, BHC80L PHD finger protein 21B PHF21B 112885 ENSG00000056487 Phf21b (MGI:2443812)
chr22 45163844 45188010 22q13.3 22q13.31 604646 NUP50, NPAP60L, NPAP60 Nucleoporin, 50 kD NUP50 10762 ENSG00000093000 Nup50 (MGI:1351502)
chr22 45284986 45295873 22q13.31 22q13.31 611559 UPK3A, UPK3, UPIII Uroplakin 3A UPK3A 7380 ENSG00000100373 Upk3a (MGI:98914)
chr22 45502838 45601133 22q13.3 22q13.31 135820 FBLN1 Fibulin 1 FBLN1 2192 ENSG00000077942 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4), Autosomal dominant Fbln1 (MGI:95487)
chr22 45671797 45845306 22q13 22q13.31 611150 ATXN10, SCA10 Ataxin 10 ATXN10 25814 ENSG00000130638 ATTCTn repeat in intron 9 Spinocerebellar ataxia 10, 603516 (3), Autosomal dominant Atxn10 (MGI:1859293)
chr22 45920361 45977127 22q13 22q13.31 601967 WNT7B Wingless-type MMTV integration site family, member-7B WNT7B 7477 ENSG00000188064 Wnt7b (MGI:98962)
chr22 46112748 46112821 22q13.31 22q13.31 612143 MIRLET7A3, LET7A3, MIRNLET7A3 Micro RNA let7a3 MIRLET7A3 406883
chr22 46113685 46113767 22q13 22q13.31 611249 MIRLET7B, LET7B, MIRNLET7B Micro RNA Let7B MIRLET7B 406884
chr22 46150533 46243755 22q12-q13.1 22q13.31 170998 PPARA, PPAR Peroxisome proliferator-activated receptor-alpha PPARA 5465 ENSG00000186951 {Hyperapobetalipoproteinemia, susceptibility to} (3) Ppara (MGI:104740)
chr22 46255662 46263321 22q13.3 22q13.31 604670 PKDREJ Polycystic kidney disease and sea urchin REJ homolog-like PKDREJ 10343 ENSG00000130943 Pkdrej (MGI:1338786)
chr22 46335400 46357339 22q13 22q13.31 610230 TRMU, MTO2 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase TRMU 55687 ENSG00000100416 {Deafness, mitochondrial, modifier of}, 580000 (3), Mitochondrial; Liver failure, transient infantile, 613070 (3), Autosomal recessive Trmu (MGI:1919276)
chr22 46360833 46537501 22q13.3 22q13.31 604523 CELSR1 Cadherin EGF LAG seven-pass G-type receptor 1 CELSR1 9620 ENSG00000075275 Celsr1 (MGI:1100883)
chr22 46576016 46682754 22q13.31 22q13.31 613691 GRAMD4, KIAA0767, DIP Gram domain-containing protein 4 GRAMD4 23151 ENSG00000075240 Gramd4 (MGI:2676308)
chr22 46684409 46738254 22q13 22q13.31 610307 CERK, KIAA1646 Ceramide kinase CERK 64781 ENSG00000100422 Cerk (MGI:2386052)
chr22 46762616 47224974 22q13.31 22q13.31 616879 TBC1D22A, C22orf4 TBC1 domain family, member 22A TBC1D22A 25771 ENSG00000054611 Tbc1d22a (MGI:1289265)
chr22 48489459 48751934 22q13.32 22q13.32 617499 FAM19A5, TAFA5 Family with sequence similarity 19, member A5, CC motif chemokine-like FAM19A5 25817 ENSG00000219438 Fam19a5 (MGI:2146182)
chr22 49773277 49827926 22q13 22q13.33 604589 BRL BR140-like gene BRD1 23774 ENSG00000100425 Brd1 (MGI:1924161)
chr22 49853848 49890077 22q13.33 22q13.33 612552 ZBED4, KIAA0637 Zinc finger BED domain-containing protein 4 ZBED4 9889 ENSG00000100426
chr22 49860162 49918468 22q13.33 22q13.33 607144 ALG12, CDG1G Dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6- mannosyltransferase ALG12 79087 ENSG00000182858 Congenital disorder of glycosylation, type Ig, 607143 (3) Alg12 (MGI:2385025)
chr22 49960494 49964071 22q13.33 22q13.33 610580 PIM3 Oncogene PIM3 PIM3 415116 ENSG00000198355 Pim3 (MGI:1355297)
chr22 49993577 50013826 22q13 22q13.33 613414 IL17REL Interleukin 17 receptor E-like IL17REL 400935 ENSG00000188263
chr22 50059390 50085928 22q13.33 22q13.33 605908 MLC1, LVM, VL MLC1 gene MLC1 23209 ENSG00000100427 Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3), Autosomal recessive Mlc1 (MGI:2157910)
chr22 50090005 50161704 22q13.33 22q13.33 605794 MOV10L1 Mov10-like 1 MOV10L1 54456 ENSG00000073146 Mov10l1 (MGI:1891384)
chr22 50170730 50180294 22q13 22q13.33 608421 PANX2, PX2 Pannexin 2 PANX2 56666 ENSG00000073150 Panx2 (MGI:1890615)
chr22 50200978 50217615 22q13.33 22q13.33 607917 SELENOO, SELO Selenoprotein O SELENOO 83642 ENSG00000073169 Selenoo (MGI:1919007)
chr22 50217688 50245027 22q13.33 22q13.33 610053 TUBGCP6, GCP6, KIAA1669, MCCRP1 Tubulin-gamma complex-associated protein 6 TUBGCP6 85378 ENSG00000128159 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3), Autosomal recessive Tubgcp6 (MGI:2146071)
chr22 50252900 50261809 22q13.3 22q13.33 602399 MAPK12, SAPK3, ERK3 Mitogen-activated protein kinase 12 (Stress-activated protein kinase-3) MAPK12 6300 ENSG00000188130 Mapk12 (MGI:1353438)
chr22 50274978 50307636 22q13.31-q13.33 22q13.33 604293 PLXNB2, MM1 Plexin B2 PLXNB2 23654 ENSG00000196576 Plxnb2 (MGI:2154239)
chr22 50343316 50445089 22q13.33 22q13.33 610877 SAPS2, PP6R2, KIAA0685 SAPS domain family, member 2 PPP6R2 9701 ENSG00000100239 Ppp6r2 (MGI:1918724)
chr22 50444999 50475070 22q13.33 22q13.33 603560 SBF1, MTMR5, CMT4B3 SET-binding factor 1 (myotubularin-related protein 5) SBF1 6305 ENSG00000100241 Charcot-Marie-Tooth disease, type 4B3, 615284 (3), Autosomal recessive Sbf1 (MGI:1925230)
chr22 50508215 50524779 22q13.33 22q13.33 611230 NCAPH2, CAPH2 Non-SMC condensin II complex subunit H2 NCAPH2 29781 ENSG00000025770 Ncaph2 (MGI:1289164)
chr22 50523567 50526438 22q13 22q13.33 604272 SCO2, CEMCOX1, MYP6 SCO2 cytochrome c oxidase assembly protein SCO2 9997 ENSG00000130489 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3), Autosomal recessive; Myopia 6, 608908 (3), Autosomal dominant Sco2 (MGI:3818630)
chr22 50525751 50530084 22q13.32-qter 22q13.33 131222 TYMP, ECGF1, MNGIE, PDECGF, MEDPS1, MTDPS1 Thymidine phosphorylase TYMP 1890 ENSG00000025708 Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3), Autosomal recessive Tymp (MGI:1920212)
chr22 50551111 50562951 22q13.33 22q13.33 615775 SYCE3 Synaptonemal complex central element protein 3 SYCE3 644186 ENSG00000217442 Syce3 (MGI:1922709)
chr22 50568860 50578666 22q13 22q13.33 601987 CPT1B Carnitine palmitoyltransferase I, muscle CPT1B 1375 ENSG00000205560 Cpt1b (MGI:1098297)
chr22 50578957 50582998 22q13 22q13.33 612395 CHKB, CHKL, CKEKB, EKB, MDCMC Choline kinase, beta CHKB 1120 ENSG00000100288 Muscular dystrophy, congenital, megaconial type, 602541 (3), Autosomal recessive Chkb (MGI:1328313)
chr22 50600684 50613980 22q13 22q13.33 607755 MAPK8IP2, JIP2, IB2 Mitogen-activated protein kinase 8-interacting protein 2 MAPK8IP2 23542 ENSG00000008735 Mapk8ip2 (MGI:1926555)
chr22 50622753 50628172 22q13.31-qter 22q13.33 607574 ARSA Arylsulfatase A ARSA 410 ENSG00000100299 Metachromatic leukodystrophy, 250100 (3), Autosomal recessive Arsa (MGI:88077)
chr22 50674641 50733211 22q13.3 22q13.33 606230 SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3, SCZD15 SH3 and multiple ankyrin repeat domains 3 SHANK3 85358 ENSG00000251322 Phelan-McDermid syndrome, 606232 (3), Autosomal dominant; {Schizophrenia 15}, 613950 (3) Shank3 (MGI:1930016)
chr22 50738223 50745298 22q13.33 22q13.33 102480 ACR Acrosin ACR 49 ENSG00000100312 ?Male infertility due to acrosin deficiency, 102480 (2) Acr (MGI:87884)
chr22 50767491 50783704 22q13.3 22q13.33 605413 RABL2B RAB-like 2B RABL2B 11158 ENSG00000079974
chr22 0 50818468 Chr.22 107260 MSK41 Antigen MSK41 identified by monoclonal antibody E3
chrX 0 24900000 Xp22 300310 AGMX2, XLA2, IMD6 Agammaglobulinemia, X-linked 2 (with growth hormone deficiency) AGMX2 179 Agammaglobulinemia, X-linked 2, 300310 (2), X-linked
chrX 0 24900000 Xp22 304050 AIC Aicardi syndrome AIC 192 ?in p22.31 with FDH as contiguous gene syndrome Aicardi syndrome, 304050 (2), X-linked dominant
chrX 0 24900000 Xp22 300870 ANIB5 Aneurysm, intracranial berry, 5 Aneurysm, intracranial berry, 5, 300870 (2)
chrX 0 6100000 Xpter-p22.32 301780 ARSC2 Arylsulfatase C, f form ARSC2 413 probably close to STS = ARSC1, or s form
chrX 0 9600000 Xp22.3 300211 EMWX Episodic muscle weakness, X-linked EMWX 10118 Episodic muscle weakness, X-linked, 300211 (2)
chrX 0 9600000 Xp22.3 300406 FGS3 FG syndrome 3 FGS3 93985 FG syndrome 3, 300406 (2)
chrX 0 6100000 Xpter-p22.32 300221 HDPA Hodgkin disease, susceptibility, pseudoautosomal 50829 {Hodgkin disease susceptibility, pseudoautosomal}, 300221 (2)
chrX 0 9600000 Xp22.3 300778 LECD Corneal dystrophy, Lisch epithelial 100302509 max lod between DXYS233 and DXYS228X Corneal dystrophy, Lisch epithelial, 300778 (2), X-linked dominant
chrX 0 24900000 Xp22 300273 MNG2 Multinodular goiter-2 59081 Goiter, multinodular, 2, 300273 (2), X-linked dominant
chrX 0 9600000 Xp22.3 300428 MRX2 Mental retardation, X-linked, 2 Mental retardation, X-linked 2, 300428 (2), X-linked
chrX 0 9600000 Xp22.3 300650 OASD Ocular albinism and sensorineural deafness OASD 4941 ?allelic to OA1 Ocular albinism with sensorineural deafness, 300650 (2), X-linked
chrX 0 4400000 Xp22.33 313000 VSPA Visuospatial/perceptual abilities 59332 Turner syndrome-associated neurocognitive phenotype, 313000 (2), ?X-linked recessive; [Visuospatial/perceptual abilities], 313000 (2), ?X-linked recessive
chrX 0 6100000 Xpter-p22.32 314700 XG Xg blood group nonlyonizing; spans pseudoautosomal boundary; XGPY on Yq11.21 [Blood group, XG system] (3)
chrX 276323 303355 Xp22.33 Xp22.33 300974 PLCXD1 Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 1 PLCXD1 55344 ENSG00000182378 in pseudoautosomal region
chrX 303351 318818 Xp22.33 Xp22.33 300124 GTPBP6, PGPL GTP-binding protein 6 GTPBP6 8225 ENSG00000178605 Gtpbp6 (MGI:1306825)
chrX 333932 387326 Xp22.33 Xp22.33 300339 PPP2R3B, PR48 Protein phosphatase 2, regulatory subunit B-double prime, beta PPP2R3B 28227 ENSG00000167393
chrX 624343 659410 Xpter-p22.32 Xp22.33 312865 SHOX, GCFX, SS, PHOG Short stature homeo box SHOX 6473 ENSG00000185960 pseudoautosomal; ?gene causing short stature in Turner syndrome Langer mesomelic dysplasia, 249700 (3), Autosomal recessive; Leri-Weill dyschondrosteosis, 127300 (3), Autosomal dominant; Short stature, idiopathic familial, 300582 (3)
chrX 1190436 1212761 Xp22.3 Xp22.33 300357 CRLF2, CRL2 Cytokine receptor-like factor 2 CRLF2 64109 ENSG00000205755 pseudoautosomal Crlf2 (MGI:1889506)
chrX 1268799 1325096 Xp22.32 Xp22.33 306250 CSF2RA, SMDP4 Colony-stimulating factor-2 receptor, alpha, low-affinity, granulocyte-macrophage CSF2RA 1438 ENSG00000198223 order in PAR: pter-CSF2RA-IL3RA-ANT3-ASMT-MIC2-cen Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3) Csf2ra (MGI:1339754)
chrX 1336573 1382688 Xp22.3 Xp22.33 308385 IL3RA Interleukin-3 receptor, alpha subunit IL3RA 3563 ENSG00000185291 same 190kb segment as CSF2RA Il3ra (MGI:96553)
chrX 1386151 1392145 Xp22.32 Xp22.33 300151 SLC25A6, ANT3 Solute carrier family 25 (mitochondrial carrier), member 6 (adenine nucleotide translocator-3, liver) SLC25A6 293 ENSG00000169100 1st intron ~1.3Mb from Xqter; nonlyonized
chrX 1403138 1453793 Xpter-p22.32 Xp22.33 300162 ASMTLX, ASTML Acetylserotonin methyltransferase-like ASMTL 8623 ENSG00000169093
chrX 1462571 1537487 Xp22.3 Xp22.33 300525 P2RY8, P2Y8 Pyrimidinergic receptor P2Y, G protein-coupled, 8 P2RY8 286530 ENSG00000182162
chrX 1591592 1602519 Xp22.32 Xp22.33 312095 AKAP17A, SFRS17A, DXYS155E, XE7 A kinase (PRKA) anchor protein 17A AKAP17A 8227 ENSG00000197976 nonlyonizing
chrX 1595454 1643080 Xpter-p22.32 Xp22.33 300015 ASMT, HIOMT Acetylserotonin methyltransferase ASMT 438 ENSG00000196433 pseudoautosomal
chrX 2486413 2500966 Xp22.33 Xp22.33 300178 ZBED1, ALTE, KIAA0785, TRAMP Zinc finger BED domain-containing protein 1 ZBED1 9189 ENSG00000214717
chrX 2691132 2741308 Xpter-p22.32 Xp22.33 313470 CD99, MIC2, MIC2X CD99 antigen (MIC2 (monoclonal antibody 12E7)) CD99 4267 ENSG00000002586 distal to STS
chrX 2751103 2816499 Xp22.33 Xp22.33 300879 XG, PBDX XG glycoprotein XG 7499 ENSG00000124343
chrX 2828711 2882819 Xp22.3 Xp22.33 300198 GYG2, GN2 Glycogenin 2 GYG2 8908 ENSG00000056998
chrX 2903969 2929374 Xp22.3 Xp22.33 300002 ARSD Arylsulfatase D ARSD 414 ENSG00000006756
chrX 2934631 2968309 Xp22.3 Xp22.33 300180 ARSE, CDPX1, CDPXR Arylsulfatase E ARSE 415 ENSG00000157399 CDPX1 in contiguous gene syndrome with STS Chondrodysplasia punctata, X-linked recessive, 302950 (3), X-linked recessive
chrX 3006612 3033384 Xp22.3 Xp22.33 300586 ARSH Arylsulfatase H ARSH 347527 ENSG00000205667
chrX 3040233 3112728 Xp22.3 Xp22.33 300003 ARSF Arylsulfatase F ARSF 416 ENSG00000062096
chrX 3308564 3346642 Xp22.33 Xp22.33 300938 MXRA5 Matrix remodeling-associated protein 5 MXRA5 25878 ENSG00000101825
chrX 3604342 3713633 Xp22.3 Xp22.33 300083 PRKX Protein kinase, X-linked PRKX 5613 ENSG00000183943 Prkx (MGI:1309999)
chrX 4400000 6100000 Xp22.32 314705 XGR XG/MIC2 regulator XGR 7501 ?between XG and MIC2
chrX 5890025 6228881 Xp22.33 Xp22.32-p22.31 300427 NLGN4, KIAA1260, AUTSX2, ASPGX2 Neuroligin 4 NLGN4X 57502 ENSG00000146938 {Asperger syndrome susceptibility, X-linked 2}, 300497 (3), Isolated cases, X-linked, Multifactorial; {Autism susceptibility, X-linked 2}, 300495 (3), Isolated cases, X-linked, Multifactorial; Mental retardation, X-linked, 300495 (3), Isolated cases, X-linked, Multifactorial
chrX 6533617 6535117 Xp22.3 Xp22.31 300533 VCX3A, VCX8R, VCXA Variably charged, X chromosome, 3A VCX3A 51481 ENSG00000169059
chrX 6768839 7148189 Xp22.32 Xp22.31 306480 HDHD1A, DXF68S1E, GS1 Haloacid dehalogenase-like hydrolase domain-containing 1A PUDP 8226 ENSG00000130021 escapes X-inactivation; 100kb telomeric to STS Pudp (MGI:1914615)
chrX 7147251 7354642 Xp22.32 Xp22.31 300747 STS, ARSC1, ARSC, SSDD, XLI Steroid sulfatase, microsomal (arylsulfatase C, isozyme S) STS 412 ENSG00000101846 nonlyonizing Ichthyosis, X-linked, 308100 (3), X-linked recessive
chrX 7842261 7844142 Xp22.3 Xp22.31 300229 VCX, VCXB1, VCX10R Variably charged, X chromosome VCX 26609 ENSG00000182583
chrX 7898762 7928586 Xp22.3 Xp22.31 300102 DXS1283E GS2 gene PNPLA4 8228 ENSG00000006757
chrX 8169943 8171266 Xp22.3 Xp22.31 300532 VCX2, VCX2R, VCXB Variably charged, X chromosome, 2 VCX2 51480 ENSG00000177504
chrX 8464829 8466509 Xp22.31 Xp22.31 300981 VCS3B, VCXC Variably charged, X chromosome, 3B VCX3B 425054 ENSG00000205642
chrX 8528873 8732186 Xp22.3 Xp22.31 300836 KAL1, KMS, ADMLX, HH1 Kallmann syndrome-1 sequence (anosmin-1) ANOS1 3730 ENSG00000011201 with ichthyosis in probable microdeletion syndrome Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3), X-linked recessive
chrX 8790794 8801382 Xp22.33-p22.32 Xp22.31 300477 FAM9A Family with sequence similarity 9, member A FAM9A 171482 ENSG00000183304 pseudogene on Xq28, Yp11.31, 1p36.12, 8p11.1
chrX 9024231 9034126 Xp22.32 Xp22.31 300478 FAM9B Family with sequence similarity 9, member B FAM9B 171483 ENSG00000177138
chrX 9463294 9719739 Xp22.3 Xp22.3-p22.2 300196 TBL1X, TBL1 Transducin-beta-like 1, X-linked TBL1X 6907 ENSG00000101849 Tbl1x (MGI:1336172)
chrX 9600000 17400000 Xp22.2 302801 CMTX2 Charcot-Marie-Tooth disease, X-linked recessive, 2 CMTX2 1253 Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, 302801 (2), X-linked recessive
chrX 9600000 17400000 Xp22.2 305435 HBFQTL3, FCP1, FCPX, FCP Fetal hemoglobin quantitative trait locus 3 FCP1 2221 Fetal hemoglobin quantitative trait locus 3, 305435 (2), X-linked
chrX 9600000 17400000 Xp22.2 300355 MRX73 Mental retardation, X-linked 73 MRX73 23694 between DXS8019 and DXS365 Mental retardation, X-linked 73, 300355 (2), X-linked recessive
chrX 9725412 9786259 Xp22.3 Xp22.2 300808 GPR143, OA1, NYS6 G protein-coupled receptor 143 GPR143 4935 ENSG00000101850 linked to XG Nystagmus 6, congenital, X-linked, 300814 (3); Ocular albinism, type I, Nettleship-Falls type, 300500 (3), X-linked Gpr143 (MGI:107193)
chrX 9786405 9949442 Xp22.3 Xp22.2 300103 SHROOM2, APXL Shroom family member 2 SHROOM2 357 ENSG00000146950 Shroom2 (MGI:107194)
chrX 10156944 10237659 Xp22.3 Xp22.2 302910 CLCN4, MRX49, MRX15 Chloride channel-4 CLCN4 1183 ENSG00000073464 Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive Clcn4 (MGI:104571)
chrX 10445309 10833689 Xp22 Xp22.2 300552 MID1, OGS1, BBBG1, FXY, OSX Midline-1 MID1 4281 ENSG00000101871 type II defect on chr.22 Opitz GBBB syndrome, type I, 300000 (3), X-linked recessive Mid1 (MGI:1100537)
chrX 11111285 11123085 Xp22 Xp22.2 300056 HCCS, MCOPS7, LSDMCA1 Holocytochrome c synthase (cytochrome c heme-lyase) HCCS 3052 ENSG00000004961 Linear skin defects with multiple congenital anomalies 1, 309801 (3), X-linked dominant Hccs (MGI:106911)
chrX 11137542 11665700 Xp22.3 Xp22.2 300118 ARHGAP6 Rho GTPase-activating protein-6 ARHGAP6 395 ENSG00000047648 Arhgap6 (MGI:1196332)
chrX 11293412 11304148 Xp22.3-p22.1 Xp22.2 300391 AMELX, AMG, AIH1, AMGX, AI1E Amelogenin AMELX 265 ENSG00000125363 also Y Amelogenesis imperfecta, type 1E, 301200 (3), X-linked dominant
chrX 11758158 11775752 Xp22.3 Xp22.2 300609 MSL3L1 Male-specific lethal 3-like 1 MSL3 10943 ENSG00000005302 Msl3 (MGI:1341851)
chrX 12137328 12724522 Xp22.2 Xp22.2 300838 FRMPD4, PRESO, KIAA0316, MRX104 FERM and PDZ domains-containing protein 4 FRMPD4 9758 ENSG00000169933 Mental retardation, X-linked 104, 300983 (3), X-linked recessive Frmpd4 (MGI:3042378)
chrX 12791354 12824226 Xp22.3-p22.2 Xp22.2 311860 PRPS2 Phosphoribosyl pyrophosphate synthetase-2 PRPS2 5634 ENSG00000101911 between STS and ZFX Prps2 (MGI:97776)
chrX 12867082 12890360 Xp22.3-p22.2 Xp22.2 300365 TLR7 Toll-like receptor 7 TLR7 51284 ENSG00000196664 centromeric to TLR8 Tlr7 (MGI:2176882)
chrX 12906619 12923168 Xp22.3-p22.2 Xp22.2 300366 TLR8 Toll-like receptor 8 TLR8 51311 ENSG00000101916 16kb telomeric to TLR7 Tlr8 (MGI:2176887)
chrX 12975106 12977226 Xq21.3-q22 Xp22.2 300159 TMSB4X, TMSB4, TB4X, PTMB4 Thymosin, beta-4, X chromosome TMSB4X 7114 ENSG00000205542
chrX 13035616 13044797 Xp22.31 Xp22.2 300479 FAM9C Family with sequence similarity 9, member C FAM9C 171484 ENSG00000187268
chrX 13318646 13320398 Xp22.2 Xp22.2 300920 ATXN3L Ataxin 3-like ATXN3L 92552 ENSG00000123594
chrX 13569574 13633574 Xp22 Xp22.2 300239 EGFL6 Epidermal growth factor-like 6 EGFL6 25975 ENSG00000198759 Egfl6 (MGI:1858599)
chrX 13689120 13709824 Xp22.2 Xp22.2 300284 RAB9 RAS-associated protein RAB9 RAB9A 9367 ENSG00000123595 Rab9 (MGI:1890695)
chrX 13712241 13734634 Xp22.2-p22.1 Xp22.2 300202 TRAPPC2, SEDL, SEDT Trafficking protein particle complex 2 (sedlin) TRAPPC2 6399 ENSG00000196459 Spondyloepiphyseal dysplasia tarda, 313400 (3), X-linked recessive Trappc2 (MGI:1913476)
chrX 13734712 13773977 Xp22.3-p22.2 Xp22.2 300170 OFD1, CXorf5, SGBS2, JBTS10, RP23 OFD1 protein OFD1 8481 ENSG00000046651 mutation identified in 1 RP23 family Joubert syndrome 10, 300804 (3), X-linked recessive; Orofaciodigital syndrome I, 311200 (3), X-linked dominant; ?Retinitis pigmentosa 23, 300424 (3), X-linked recessive; Simpson-Golabi-Behmel syndrome, type 2, 300209 (3), X-linked recessive Ofd1 (MGI:1350328)
chrX 13770921 13938823 Xp22.2 Xp22.2 300051 GPM6B, M6B Glycoprotein M6B GPM6B 2824 ENSG00000046653 Gpm6b (MGI:107672)
chrX 14002493 14029917 Xp22.2 Xp22.2 300962 GEMIN8, FAM51A1 GEM-associated protein 8 GEMIN8 54960 ENSG00000046647 Gemin8 (MGI:2384300)
chrX 14529297 14731811 Xp22.1-p21.2 Xp22.2 305990 GLRA2 Glycine receptor, alpha-2 polypeptide GLRA2 2742 ENSG00000101958 Glra2 (MGI:95748)
chrX 14690862 14873254 Xp22.31 Xp22.2 300515 FAAP95, FAAP90, FLJ34064, FANCB Fanconi anemia-associated polypeptide, 95kD FANCB 2187 ENSG00000181544 Fanconi anemia, complementation group B, 300514 (3) Fancb (MGI:2448558)
chrX 15243986 15270475 Xp22.2 Xp22.2 300890 ASB9 Ankyrin repeat- and SOCS box-containing protein 9 ASB9 140462 ENSG00000102048 Asb9 (MGI:1916549)
chrX 15281696 15315623 Xp22.31 Xp22.2 300626 ASB11 Ankyrin repeat- and SOCS box-containing protein 11 ASB11 140456 ENSG00000165192 Asb11 (MGI:1916104)
chrX 15319450 15335553 Xp22.1 Xp22.2 311770 PIGA, PNH1, MCAHS2 Phosphatidylinositol glycan, class A PIGA 5277 ENSG00000165195 pseudogene on chr.12 Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3), X-linked recessive; Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3) Piga (MGI:99461)
chrX 15345590 15384412 Xp22.31 Xp22.2 300091 FIGF, VEGFD c-fos induced growth factor (vascular endothelial growth factor D) VEGFD 2277 ENSG00000165197 Vegfd (MGI:108037)
chrX 15384798 15493587 Xp22.2 Xp22.2 300931 PIR Pirin PIR 8544 ENSG00000087842 Pir (MGI:1916906)
chrX 15494519 15602068 Xp22 Xp22.2 300335 ACE2, ACEH Angiotensin I converting enzyme 2 ACE2 59272 ENSG00000130234 Ace2 (MGI:1917258)
chrX 15500776 15556528 Xp22.2 Xp22.2 300101 BMX BMX non-receptor tyrosine kinase BMX 660 ENSG00000102010 Bmx (MGI:1101778)
chrX 15627315 15675623 Xp22 Xp22.2 300631 TMEM27, NX17 Transmembrane protein 27 (collectrin) CLTRN 57393 ENSG00000147003 Tmem27 (MGI:1926234)
chrX 15738280 15787624 Xp22.1 Xp22.2 300230 CA5B Carbonic anhydrase VB, mitochondrial CA5B 11238 ENSG00000169239 Car5b (MGI:1926249)
chrX 15785715 15787588 Xp22.2 Xp22.2 300165 INE2 Inactivation escape 2 INE2 8551
chrX 15790450 15826806 Xp22.1 Xp22.2 300028 ZRSR2, U2AF1RS2 Zinc finger-, CCCH domain-, and RNA-binding motif-containing serine/arginine-rich protein 2 ZRSR2 8233 ENSG00000169249 Zrsr2 (MGI:103287)
chrX 15825805 15855013 Xp22 Xp22.2 300629 AP1S2, MRX59, MRXSF, MRXS21, MRXS5, PGS Adaptor-related protein complex 1, sigma-2 subunit AP1S2 8905 ENSG00000182287 Mental retardation, X-linked syndromic 5, 304340 (3), X-linked recessive Ap1s2 (MGI:1889383)
chrX 16123300 16153517 Xp22.3-p21.2 Xp22.2 305670 GRPR Gastrin-releasing peptide receptor GRPR 2925 ENSG00000126010 Grpr (MGI:95836)
chrX 16167480 16172393 Xp21.3 Xp22.2 300763 MAGEB17 Melanoma antigen, family B, 17 MAGEB17 645864 ENSG00000182798 Gm5071,Gm5072 (MGI:3645128,MGI:3643982)
chrX 16587998 16712978 Xp22 Xp22.2 300380 CTPS2 Cytidine 5-prime triphosphate synthetase 2 CTPS2 56474 ENSG00000047230 Ctps2 (MGI:1933185)
chrX 16649786 16654673 Xp Xp22.2 302020 CALB3, CABP9K Calbindin 3 (vitamin D-dependent calcium-binding protein) S100G 795 ENSG00000169906 S100g (MGI:104528)
chrX 16786431 16844518 Xp22.1 Xp22.2 300677 CXorf15, FIAT Chromosome X open reading frame 15 TXLNG 55787 ENSG00000086712 Txlng (MGI:3590652)
chrX 16844649 16870410 Xp22.2 Xp22.2 300825 RBBP7 Retinoblastoma-binding protein 7 RBBP7 5931 ENSG00000102054 Rbbp7 (MGI:1194910)
chrX 16946690 17220723 Chr.X Xp22.2 300317 REPS2, POB1 RALBP1-associated EPS domain-containing protein 2 REPS2 9185 ENSG00000169891 Reps2 (MGI:2663511)
chrX 17375419 17735993 Xp22.13 Xp22.2-p22.1 300457 NHS, CXN, CTRCT40 NHS gene NHS 4810 ENSG00000188158 Cataract 40, X-linked, 302200 (3), X-linked; Nance-Horan syndrome, 302350 (3), X-linked dominant Nhs (MGI:2684894)
chrX 17400000 37800000 Xp22.13-p21.1 300148 MEHMO MEHMO syndrome (Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity) MEHMO syndrome, 300148 (2)
chrX 17737448 17754987 Xp22.2-p22.1 Xp22.13 300227 SCML1 Sex comb on midleg, Drosophila, homolog-like 1 SCML1 6322 ENSG00000047634
chrX 17800048 17861345 Xp22 Xp22.13 300217 RAI2 Retinoic acid-induced 2 RAI2 10742 ENSG00000131831 Rai2 (MGI:1344378)
chrX 18239312 18355088 Xp22 Xp22.13 300208 SCML2 Sex comb on midleg, Drosophila, homolog-like 2 SCML2 10389 ENSG00000102098
chrX 18425604 18653628 Xp22 Xp22.13 300203 CDKL5, STK9, ISSX, EIEE2 Cyclin-dependent kinase-like 5 (serine/threonine protein kinase 9) CDKL5 6792 ENSG00000008086 Epileptic encephalopathy, early infantile, 2, 300672 (3), X-linked dominant Cdkl5 (MGI:1278336)
chrX 18639687 18672102 Xp22.2-p22.1 Xp22.13 300839 RS1, XLRS1 Retinoschisin RS1 6247 ENSG00000102104 25cM from XG Retinoschisis, 312700 (3), X-linked recessive Rs1 (MGI:1336189)
chrX 18675908 18827920 Xp22.2-p22.1 Xp22.13 300109 PPEF1 Protein phosphatase, EF hand calcium-binding domain 1 PPEF1 5475 ENSG00000086717 Ppef1 (MGI:1097157)
chrX 18892297 18984361 Xp22.2-p22.1 Xp22.13 300798 PHKA2, PHK, XLG, PYKL, GSD9A Phosphorylase kinase, liver, alpha-2 subunit PHKA2 5256 ENSG00000044446 Glycogen storage disease, type IXa1, 306000 (3), X-linked recessive; Glycogen storage disease, type IXa2, 306000 (3), X-linked recessive Phka2 (MGI:97577)
chrX 18989306 19122955 Xp21.3 Xp22.13 300572 ADGRG2, GPR64, HE6, CBAVDX Adhesion G protein-coupled receptor G2 ADGRG2 10149 ENSG00000173698 Vas deferens, congenital bilateral aplasia of, X-linked, 300985 (3), X-linked Adgrg2 (MGI:2446854)
chrX 19343892 19361706 Xp22.2-p22.1 Xp22.12 300502 PDHA1, PHE1A, PDHAD Pyruvate dehydrogenase, E1-alpha polypeptide-1 PDHA1 5160 ENSG00000131828 Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3), X-linked dominant Pdha1 (MGI:97532)
chrX 19360057 19515260 Xp22.12 Xp22.12 300820 MAP3K15, ASK3 Mitogen-activated protein kinase kinase kinase 15 MAP3K15 389840 ENSG00000180815 Map3k15 (MGI:2448588)
chrX 19533964 19887625 Xp22.1-p21.3 Xp22.12 300374 SH3KBP1, CIN85 SH3-domain kinase-binding protein 1 SH3KBP1 30011 ENSG00000147010 Sh3kbp1 (MGI:1889583)
chrX 20124517 20141847 Chr.X Xp22.12 300186 EIF1A, EIF4C, EIF1AX Eukaryotic translation initiation factor 1A EIF1AX 1964 ENSG00000173674 Eif1a (MGI:95298)
chrX 20149910 20267513 Xp22.2-p22.1 Xp22.12 300075 RPS6KA3, RSK2, MRX19 Ribosomal protein S6 kinase, 90kD, polypeptide 3 RPS6KA3 6197 ENSG00000177189 Coffin-Lowry syndrome, 303600 (3), X-linked dominant, Isolated cases; Mental retardation, X-linked 19, 300844 (3), X-linked dominant Rps6ka3 (MGI:104557)
chrX 21374297 21654694 Xp22.12 Xp22.12 300724 CNKSR2, CNK2, KIAA0902, MRXSHG connector enhancer of KSR 2 CNKSR2 22866 ENSG00000149970 conflicting assignment to chr.1 Mental retardation, X-linked, syndromic, Houge type, 301008 (3), X-linked Cnksr2 (MGI:2661175)
chrX 21705971 21758159 Xp22.1 Xp22.12 300226 SMPX, DFNX4 Small muscle protein, X-linked SMPX 23676 ENSG00000091482 Deafness, X-linked 4, 300066 (3), X-linked dominant
chrX 21839537 21885422 Xp22.12-p22.11 Xp22.12 300294 MBTPS2, S2P, IFAP, KFSDX, OLMSX Membrane-bound transcription factor protease, site 2 MBTPS2 51360 ENSG00000012174 mutation identified in 1 OLMSX family IFAP syndrome with or without BRESHECK syndrome, 308205 (3), X-linked recessive; Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3), X-linked recessive; ?Olmsted syndrome, X-linked, 300918 (3), X-linked recessive Mbtps2 (MGI:2444506)
chrX 21855986 21858726 Xp22.2-p22.1 Xp22.12 300570 YY2, ZNF631 Transcription factor YY2 YY2 404281 ENSG00000230797 Yy2 (MGI:3837947)
chrX 21940572 21994836 Xp22.1 Xp22.11 300105 SMS, SRS, MRSR Spermine synthase SMS 6611 ENSG00000102172 Mental retardation, X-linked, Snyder-Robinson type, 309583 (3), X-linked recessive Sms-ps,Sms (MGI:109490,MGI:3705601)
chrX 22032326 22251309 Xp22.2-p22.1 Xp22.11 300550 PHEX, HYP, HPDR1, LXHR Phosphate regulating endopeptidase homolog, X-linked PHEX 5251 ENSG00000102174 Hypophosphatemic rickets, X-linked dominant, 307800 (3), X-linked dominant Phex (MGI:107489)
chrX 23334368 23404373 Xp22.11 Xp22.11 300828 PTCHD1, AUTSX4 Patched domain-containing protein 1 PTCHD1 139411 ENSG00000165186 {Autism, susceptibility to, X-linked 4}, 300830 (3), X-linked recessive Ptchd1 (MGI:2685233)
chrX 23664259 23686398 Xp22.11 Xp22.11 300927 PRDX4, AOE372 Peroxiredoxin 4 PRDX4 10549 ENSG00000123131 Prdx4 (MGI:1859815)
chrX 23701054 23743289 Xp22.11 Xp22.11 300862 ACOT9, MTACT48 Acyl-CoA thioesterase 9 ACOT9 23597 ENSG00000123130 Acot9,Acot10 (MGI:1928939,MGI:1928940)
chrX 23783157 23786222 Xp22.1 Xp22.11 313020 SAT1, SSAT Spermidine/spermine N1-acetyltransferase 1 SAT1 6303 ENSG00000130066 Sat1 (MGI:98233)
chrX 23833347 23907939 Xp22.1 Xp22.11 300753 APOO, MYO25, FAM121B Apolipoprotein O APOO 79135 ENSG00000184831 Apoo (MGI:1915566)
chrX 23983715 24027185 Xp22.1 Xp22.11 300980 KLHL15, KIAA1677 Kelch-like 15 KLHL15 80311 ENSG00000174010 Mental retardation, X-linked 103, 300982 (3), X-linked recessive Klhl15 (MGI:1923400)
chrX 24054947 24078809 Xp22.2-p22.1 Xp22.11 300161 EIF2S3, EIF2G, MEHMO, MRXSBRK Eukaryotic translation initiation factor 2, subunit 3 EIF2S3 1968 ENSG00000130741 MEHMO syndrome, 300148 (3) Eif2s3x (MGI:1349431)
chrX 24148988 24216254 Xp22.2-p21.3 Xp22.11 314980 ZFX Zinc finger protein, X-linked ZFX 7543 ENSG00000005889 nonlyonizing Zfx (MGI:99211)
chrX 24465226 24550465 Xp22.11 Xp22.11 300906 PDK3, CMTX6 Pyruvate dehydrogenase kinase, isoenzyme 3 PDK3 5165 ENSG00000067992 1 family identified with mutation ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 (3), X-linked dominant Pdk3 (MGI:2384308)
chrX 24558086 24672861 Xp22.11 Xp22.11 300948 PCYT1B Phosphate cytidylyltransferase 1, choline, beta isoform PCYT1B 9468 ENSG00000102230 Pcyt1b (MGI:2147987)
chrX 24693832 24996985 Xp22.3-p21.1 Xp22.1-p21.3 312040 POLA1 Polymerase, DNA, alpha-1 POLA1 5422 ENSG00000101868 Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive Pola1 (MGI:99660)
chrX 24900000 37800000 Xp21 300679 DELXp21, CXDELp21 Chromosome Xp21 deletion syndrome contiguous gene deletion syndrome Chromosome Xp21 deletion syndrome, 300679 (4)
chrX 24900000 29300000 Xp21.3 300488 MENOQ1 Menopause, natural, age at, QTL 1 494029 {Menopause, natural, age at, QTL1}, 300488 (2), X-linked dominant
chrX 24900000 31500000 Xp21.3-p21.2 312612 RP6 Retinitis pigmentosa-6, X-linked recessive RP6 6104 ?Retinitis pigmentosa, X-linked recessive, 6, 312612 (2), X-linked
chrX 25003693 25015947 Xp22.13 Xp21.3 300382 ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 Aristaless-related homeobox, X-linked ARX 170302 ENSG00000004848 Epileptic encephalopathy, early infantile, 1, 308350 (3), X-linked recessive; Hydranencephaly with abnormal genitalia, 300215 (3), X-linked; Lissencephaly, X-linked 2, 300215 (3), X-linked; Mental retardation, X-linked 29 and others, 300419 (3), X-linked recessive; Partington syndrome, 309510 (3), X-linked recessive; Proud syndrome, 300004 (3), X-linked Arx (MGI:1097716)
chrX 26192439 26195645 Xp22 Xp21.3 300467 MAGEB6 Melanoma antigen, family B, 6 MAGEB6 158809 ENSG00000176746
chrX 26216168 26218269 Xp22 Xp21.3 300466 MAGEB5 Melanoma antigen, family B, 5 MAGEB5 347541 ENSG00000188408 Gm14781,Mageb5 (MGI:2148169,MGI:3712084)
chrX 27807989 27823013 Xp21.3 Xp21.3 300761 MAGEB10 Melanoma antigen, family B, 10 MAGEB10 139422 ENSG00000177689
chrX 28587563 29956349 Xp22.1-p21.3 Xp21.3-p21.2 300206 IL1RAPL1, IL1R8, MRX21, MRX34 Il-1 receptor accessory protein-like 1 IL1RAPL1 11141 ENSG00000169306 Mental retardation, X-linked 21/34, 300143 (3), X-linked recessive Il1rapl1 (MGI:2687319)
chrX 29300000 31500000 Xp21.2 300030 DFNX3, DFN4 Deafness, X-linked 3 DFNX3 1680 ?same as DMD Deafness, X-linked 3, 300030 (2), X-linked
chrX 29300000 85400000 Xp21.2-q21.1 309050 XS, LUXS Lutheran suppressor, X-linked XS 7523
chrX 30215557 30220088 Xp21.3 Xp21.2 300098 MAGEB2, DAM6 Melanoma antigen, family B, 2 MAGEB2 4113 ENSG00000099399 Mageb4 (MGI:2148568)
chrX 30230435 30237492 Xp21.3 Xp21.2 300152 MAGEB3 Melanoma antigen, family B, 3 MAGEB3 4114 ENSG00000198798
chrX 30241939 30244192 Xp21.3 Xp21.2 300153 MAGEB4 Melanoma antigen, family B, 4 MAGEB4 4115 ENSG00000120289
chrX 30243730 30252037 Xp21.3 Xp21.2 300097 MAGEB1, MAGEL1, DAM10 Melanoma antigen, family B, 1 MAGEB1 4112 ENSG00000214107 Mageb1,Mageb2,Mageb3 (MGI:105109,MGI:105118,MGI:105117)
chrX 30304421 30309377 Xp21.3-p21.2 Xp21.2 300473 NR0B1, DAX1, AHC, AHX, SRXY2 Nuclear receptor subfamily 0, group B, member 1 NR0B1 190 ENSG00000169297 distal to GK Adrenal hypoplasia, congenital, 300200 (3), X-linked recessive; 46XY sex reversal 2, dosage-sensitive, 300018 (3), X-linked Nr0b1 (MGI:1352460)
chrX 30653347 30731461 Xp21.3-p21.2 Xp21.2 300474 GK Glycerol kinase GK 2710 ENSG00000198814 2Mb distal to DMD; pseudogene on 4q32 Glycerol kinase deficiency, 307030 (3), X-linked recessive Gykl1 (MGI:891990)
chrX 30827441 30889393 Xp21.2 Xp21.2 300480 TAB3 Tak1 (MAP3K7) binding protein 3 TAB3 257397 ENSG00000157625 Tab3 (MGI:1913974)
chrX 31071240 31072052 Xp21.2 Xp21.2 300308 FTHL17 Ferritin heavy polypeptide-like 17 FTHL17 53940 ENSG00000132446
chrX 31119218 33339608 Xp21.2 Xp21.2-p21.1 300377 DMD, BMD, CMD3B Dystrophin DMD 1756 ENSG00000198947 dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13 Becker muscular dystrophy, 300376 (3), X-linked recessive; Cardiomyopathy, dilated, 3B, 302045 (3), X-linked; Duchenne muscular dystrophy, 310200 (3), X-linked recessive Dmd (MGI:94909)
chrX 31500000 50100000 Xp21.1-p11.23 300858 MRXS17 Mental retardation, X-linked, syndromic 17 100739996 between rs2748314 and rs5906782 Mental retardation, X-linked, syndromic 17, 300858 (2), X-linked recessive
chrX 34627063 34657287 Xp11.4 Xp21.1 300698 TMEM47, BCMP1 Transmembrane protein 47 TMEM47 83604 ENSG00000147027 Tmem47 (MGI:2177570)
chrX 35798310 35803771 Xp21.3 Xp21.1 300762 MAGEB16 Melanoma antigen, family B, 16 MAGEB16 139604 ENSG00000189023 Mageb16 (MGI:1919217)
chrX 37349274 37457294 Xp21.1 Xp21.1 300935 PRRG1, PRGP1 Proline-rich gamma-carboxyglutamic acid protein 1 PRRG1 5638 ENSG00000130962 Prrg1 (MGI:1917364)
chrX 37685685 37732129 Xp21.2-p21.1 Xp21.1 314850 XK, MCLDS Kell blood group precursor XK 7504 ENSG00000047597 ~500kb distal to CGD McLeod syndrome with or without chronic granulomatous disease, 300842 (3), X-linked Xk (MGI:103569)
chrX 37780016 37813460 Xp21.1 Xp21.1-p11.4 300481 CYBB, CGD, AMCBX2, IMD34 Cytochrome b-245, beta polypeptide CYBB 1536 ENSG00000165168 proximal to DMD Chronic granulomatous disease, X-linked, 306400 (3), X-linked recessive; Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3), X-linked recessive Cybb (MGI:88574)
chrX 37800000 58100000 Xp11.4-p11.2 300638 GAGE8 G antigen 8 GAGE8 100101629 ENSG00000189064
chrX 37800000 61000000 Xp11 300351 GRDX, GD3 Graves disease, susceptibility to, X-linked 117189 {Graves disease, susceptibility to, X-linked}, 300351 (2)
chrX 37800000 61000000 Xp11 300136 IDDMX Diabetes mellitus, insulin-dependent, X-linked, susceptibility to 8245 only with DR3 {Diabetes mellitus, insulin-dependent, X-linked}, 300136 (2)
chrX 37800000 61000000 Xp11 308905 LOAS Leber optic atrophy, susceptibility to 100188775 {Leber optic atrophy, susceptibility to}, 308905 (2), X-linked
chrX 37800000 99100000 Xp11-q21 300047 MRX20 Mental retardation, X-linked-20 MRX20 4384 Mental retardation, X-linked 20, 300047 (2), X-linked
chrX 37800000 61000000 Xp11 309545 MRXS12 Mental retardation, X-linked, syndromic 12 8246 ?Mental retardation, X-linked, syndromic 12, 309545 (2), X-linked
chrX 37800000 42500000 Xp11.4 300589 NYS5 Nystagmus 5, congenital, X-linked 780901 max lod at DXS993 Nystagmus 5, congenital, X-linked, 300589 (2), X-linked dominant
chrX 37800000 58100000 Xp11.4-p11.21 311050 OPA2 Optic atrophy, X-linked OPA2 4977 Optic atrophy 2, X-linked, 311050 (2), X-linked
chrX 37800000 99100000 Xp11-q21 309610 PRS, MRXS2 Prieto syndrome (mental retardation, X-linked, syndromic 2, with dysmorphism and cerebral atrophy) PRS 5640 Prieto syndrome, 309610 (2), X-linked recessive
chrX 37838835 37847635 Xp21 Xp11.4 300302 TCTE1L T complex-associated testis-expressed 1-like DYNLT3 6990 ENSG00000165169 Dynlt3 (MGI:1914367)
chrX 38149334 38220923 Xp21.1 Xp11.4 300187 SRPX, ETX1 Sushi-repeat-containing protein, X chromosome SRPX 8406 ENSG00000101955 probably between OTC and CGD Srpx (MGI:1858306)
chrX 38269162 38327541 Xp11.4 Xp11.4 312610 RPGR, RP3, CRD, RP15, COD1, CORDX1 Retinitis pigmentosa GTPase regulator RPGR 6103 ENSG00000156313 Cone-rod dystrophy, X-linked, 1, 304020 (3), X-linked; Macular degeneration, X-linked atrophic, 300834 (3), X-linked recessive; Retinitis pigmentosa 3, 300029 (3); Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3) Rpgr (MGI:1344037)
chrX 38352482 38421449 Xp21.1 Xp11.4 300461 OTC Ornithine transcarbamylase OTC 5009 ENSG00000036473 proximal to DMD, CGD Ornithine transcarbamylase deficiency, 311250 (3), X-linked recessive Otc (MGI:97448)
chrX 38561477 38688917 Xq11 Xp11.4 300096 TSPAN7, TM4SF2, MXS1, A15, MRX58 Tetraspanin 7 TSPAN7 7102 ENSG00000156298 Mental retardation, X-linked 58, 300210 (3), X-linked recessive Tspan7 (MGI:1298407)
chrX 38801431 38806531 Xp11.4 Xp11.4 300961 MID1IP1, MIG12 MID1-interacting protein 1 MID1IP1 58526 ENSG00000165175 Mid1ip1 (MGI:1915291)
chrX 40051245 40177389 Xp11.4 Xp11.4 300485 BCOR, KIAA1575, MCOPS2, MAA2, ANOP2 BCL6 corepressor BCOR 54880 ENSG00000183337 Microphthalmia, syndromic 2, 300166 (3), X-linked dominant Bcor (MGI:1918708)
chrX 40580963 40606636 Xp11.4 Xp11.4 300556 ATP6AP2, ATP6M8-9, XMRE, MRXSH, XPDS ATPase, H+ transporting, lysosomal, accessory protein 2 ATP6AP2 10159 ENSG00000182220 mutation identified in 1 XPDS family Mental retardation, X-linked, syndromic, Hedera type, 300423 (3), X-linked recessive; ?Parkinsonism with spasticity, X-linked, 300911 (3), X-linked recessive Atp6ap2 (MGI:1917745)
chrX 40649542 40736121 Xp11.4-p11.2 Xp11.4 300182 MED14, CRSP2, CXorf4, TRAP170, EXLM1 Mediator complex subunit 14 MED14 9282 ENSG00000180182 Med14 (MGI:1349442)
chrX 41085419 41236578 Xp11.4 Xp11.4 300072 USP9X, DFFRX, MRX99, MRXS99F Ubiquitin-specific protease-9, X chromosome (Drosophila fat facets related, X-linked) USP9X 8239 ENSG00000124486 Mental retardation, X-linked 99, 300919 (3), X-linked recessive; Mental retardation, X-linked 99, syndromic, female-restricted, 300968 (3), X-linked dominant Usp9x (MGI:894681)
chrX 41333307 41364471 Xp11.3-p11.23 Xp11.4 300160 DDX3X, DDX3, DBX, MRX102 DEAD/H box-3, X-linked DDX3X 1654 ENSG00000215301 Mental retardation, X-linked 102, 300958 (3), X-linked recessive, X-linked dominant Ddx3x (MGI:103064)
chrX 41447459 41476413 Xp11.4 Xp11.4 300278 NYX, CSNB1A, NBM1 Nyctalopin NYX 60506 ENSG00000188937 Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3), X-linked recessive Nyx (MGI:2448607)
chrX 41514933 41923524 Xp11.4 Xp11.4 300172 CASK, MICPCH, FGS4, CMG, MRXSNA Calcium/calmodulin-dependent serine protein kinase CASK 8573 ENSG00000147044 FG syndrome 4, 300422 (3); Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3), X-linked dominant; Mental retardation, with or without nystagmus, 300422 (3) Cask (MGI:1309489)
chrX 41686396 41697276 Xp11.4 Xp11.4 300241 GPR34 G protein-coupled receptor 34 GPR34 2857 ENSG00000171659 Gpr34 (MGI:1346334)
chrX 41724154 41730134 Xp11.4 Xp11.4 300748 GPR82 G protein-coupled receptor 82 GPR82 27197 ENSG00000171657 Gpr82 (MGI:2441734)
chrX 42500000 68500000 Xp11.3-q12 300652 AGSPX Angioma serptiginosum, X-linked 100188767 between DXS8026 and DXS106 Angio serpiginosum, 300652 (2), X-linked dominant
chrX 42500000 47600000 Xp11.3 300578 DELXp11.3, CXDELp11.3 Chromosome Xp11.3 deletion syndrome (X-linked mental retardation with retinitis pigmentosa) Chromosome Xp11.3 deletion syndrome, 300578 (4), X-linked recessive
chrX 42500000 76800000 Xp11.3-q13.3 300062 MRX14 Mental retardation, X-linked-14 MRX14 4378 Mental retardation, X-linked 14, 300062 (2), X-linked
chrX 42500000 58100000 Xp11.3-p11.21 300498 MRX45 Mental retardation, X-linked 45 Mental retardation,X-linked 45, 300498 (2), X-linked
chrX 42500000 58100000 Xp11.3-p11.21 300115 MRX50 Mental retardation, X-linked nonspecific, type 50 MRX50 4413 Mental retardation, X-linked 50, 300115 (2), X-linked
chrX 42500000 109400000 Xp11.3-q22.3 300505 MRX84 Mental retardation, X-linked 84 MRX84 378882 29 other MRX loci in same region Mental retardation, X-linked 84, 300505 (2), X-linked recessive
chrX 42500000 47600000 Xp11.3 300848 MRX89 Mental retardation, X-linked 89 t(X;7)(p11.3;q11.21) Mental retardation, X-linked 89, 300848 (2), X-linked dominant
chrX 42500000 47600000 Xp11.3 300851 MRX92 Mental retardation, X-linked 92 102775565 previously associated with ZNF674 Mental retardation, X-linked 92, 300851 (2), X-linked recessive
chrX 42500000 109400000 Xp11.3-q22 300218 MRXS7 Mental retardation, X-linked, syndromic 7 MRXS7 4429 Mental retardation, X-linked syndromic 7, 300218 (2)
chrX 43654906 43746823 Xp11.23 Xp11.3 309850 MAOA, BRNRS Monoamine oxidase A MAOA 4128 ENSG00000189221 NDP, MAOA, MAOB closely linked {Antisocial behavior}, 300615 (3), X-linked recessive; Brunner syndrome, 300615 (3), X-linked recessive Maoa (MGI:96915)
chrX 43766609 43882474 Xp11.23 Xp11.3 309860 MAOB Monoamine oxidase B MAOB 4129 ENSG00000069535 Maob (MGI:96916)
chrX 43948775 43973674 Xp11.4 Xp11.3 300658 NDP, ND, EVR2 Norrin NDP 4693 ENSG00000124479 Exudative vitreoretinopathy 2, X-linked, 305390 (3); Norrie disease, 310600 (3), X-linked recessive Ndp (MGI:102570)
chrX 44146253 44343676 Xp11.3 Xp11.3 300817 EFHC2 EF-hand domain (C-terminal)-containing protein 2 EFHC2 80258 ENSG00000183690 Efhc2 (MGI:1921655)
chrX 44523638 44542974 Xp11.3 Xp11.3 300871 FUNDC1 FUN14 domain-containing protein 1 FUNDC1 139341 ENSG00000069509 Fundc1 (MGI:1919268)
chrX 44844002 44844887 Xp11.3 Xp11.3 300678 DUSP21, LMWDSP21 Dual-specificity phosphatase 21 DUSP21 63904 ENSG00000189037
chrX 44873174 45112611 Xp11.2 Xp11.3 300128 KDM6A, UTX, KABUK2 Lysine (K)-specific demethylase 6A KDM6A 7403 ENSG00000147050 UTY also in mouse and man; escapes inactivation Kabuki syndrome 2, 300867 (3), X-linked dominant Kdm6a (MGI:1095419)
chrX 45148372 45200900 Xp11.3 Xp11.3 300959 CXorf36, DIA1R Chromosome X open reading frame 36 CXorf36 79742 ENSG00000147113 4930578C19Rik (MGI:1923155)
chrX 45746156 45746265 Xp11.3 Xp11.3 300568 MIR221, MIRN221 Micro RNA 221 MIR221 407006 near MIRN222
chrX 45747014 45747123 Xp11.3 Xp11.3 300569 MIR222, MIRN222 Micro RNA 222 MIR222 407007 near MIRN221
chrX 46447188 46474638 Xp11.3 Xp11.3 300585 ZNF673, FLJ20344 Zinc finger protein 673 KRBOX4 55634 ENSG00000147121
chrX 46497724 46545465 Xp11 Xp11.3 300573 ZNF674 Zinc finger protein 674 ZNF674 641339 ENSG00000251192
chrX 46573686 46598495 Xp11.3 Xp11.3 300375 CHST7, C6ST2 Carbohydrate sulfotransferase 7 CHST7 56548 ENSG00000147119 Chst7 (MGI:1891767)
chrX 46599250 46759171 Xp11.3 Xp11.3 300368 SLC9A7, NHE7 Solute carrier family 9 (sodium/hydrogen exchanger), member 7 SLC9A7 84679 ENSG00000065923 Slc9a7 (MGI:2444530)
chrX 46836911 46882357 Xp11.23 Xp11.3 300757 RP2 Retinitis pigmentosa-2, X-linked recessive RP2 6102 ENSG00000102218 Retinitis pigmentosa 2, 312600 (3), X-linked Rp2 (MGI:1277953)
chrX 46912275 47061241 Xp11.23 Xp11.3 300618 PHF16, JADE3, KIAA0215 PHD finger protein 16 JADE3 9767 ENSG00000102221 Jade3 (MGI:2148019)
chrX 47078354 47093313 Xp11.2-q11.2 Xp11.3 300212 RGN, SMP30 Regucalcin RGN 9104 ENSG00000130988 Rgn (MGI:108024)
chrX 47142215 47145209 Xp11.3 Xp11.3 300403 NDUFB11, LSDMCA3 NADH-dehydrogenase 1 beta subcomplex, 11 NDUFB11 54539 ENSG00000147123 mutation identified in 1 COX I deficient patient Linear skin defects with multiple congenital anomalies 3, 300952 (3), X-linked dominant; ?Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufb11 (MGI:1349919)
chrX 47145195 47186814 Xp11.23 Xp11.3 300080 RBM10, DXS8237E, KIAA0122, TARPS RNA-binding motif protein 10 RBM10 8241 ENSG00000182872 TARP syndrome, 311900 (3), X-linked recessive Rbm10 (MGI:2384310)
chrX 47190799 47215127 Xp11.23 Xp11.3 314370 UBA1, UBE1, GXP1, A1ST, SMAX2, AMCX1 Ubiquitin-like modifier-activating enzyme 1 UBA1 7317 ENSG00000130985 escapes inactivation Spinal muscular atrophy, X-linked 2, infantile, 301830 (3), X-linked recessive Uba1 (MGI:98890)
chrX 47204847 47205860 Xp11.23 Xp11.3 300164 INE1 Inactivation escape 1 INE1 8552
chrX 47217880 47229996 Xp11.3-p11.23 Xp11.3 311550 CDK16, PCTK1, PCTAIRE1 Cyclin-dependent kinase 16 CDK16 5127 ENSG00000102225 Cdk16 (MGI:97516)
chrX 47232914 47248327 Xp21.2-p11.2 Xp11.3 300050 USP11, UHX1 Ubiquitin-specific protease-11 (ubiquitin carboxyl-terminal hydrolase) USP11 8237 ENSG00000102226 Usp11 (MGI:2384312)
chrX 47370599 47413698 Xp11.2 Xp11.3 300024 ZNF157 Zinc finger protein-157 (HZF22) ZNF157 7712 ENSG00000147117
chrX 47444690 47485933 Xp22.1-cen Xp11.3 314995 ZNF41 Zinc finger protein-41 ZNF41 7592 ENSG00000147124
chrX 47561099 47571920 Xp11.4-p11.2 Xp11.3 311010 ARAF1, RAFA1, PKS2 Oncogene ARAF1 ARAF 369 ENSG00000078061 Araf (MGI:88065)
chrX 47571900 47619856 Xp11.4-p11.2 Xp11.3-p11.2 313440 SYN1 Synapsin I SYN1 6853 ENSG00000008056 5kb from PFC Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3), X-linked recessive, X-linked dominant Syn1 (MGI:98460)
chrX 47582290 47586790 Xp11.3-p11.23 Xp11.3 305370 TIMP1, TIMP, EPA Erythroid-potentiating activity (tissue inhibitor of metalloproteinases) TIMP1 7076 ENSG00000102265 in intron of SYN1 Timp1 (MGI:98752)
chrX 47600000 54800000 Xp11.23-p11.22 300801 DUPXp11.23p11.22, CXDUPp11.23p11.22 Chromosome Xp11.23-p11.22 duplication syndrome Chromosome Xp11.23-p11.22 duplication syndrome, 300801 (4), X-linked dominant
chrX 47600000 50100000 Xp11.23 300726 GAGE2B G antigen 2B GAGE2B 645037 ENSG00000189064
chrX 47600000 50100000 Xp11.23 300595 GAGE2C, GAGE2 G antigen 2C GAGE2C 2574 ENSG00000236362
chrX 47600000 50100000 Xp11.23 300735 GAGE2D G antigen 2D GAGE2D 729408 ENSG00000236362
chrX 47600000 50100000 Xp11.23 300736 GAGE2E G antigen 2E GAGE2E 26749 ENSG00000236362
chrX 47600000 50100000 Xp11.23 300596 GAGE3 G antigen 3
chrX 47600000 50100000 Xp11.23 300597 GAGE4 G antigen 4 GAGE4 2576 ENSG00000236362
chrX 47600000 50100000 Xp11.23 300598 GAGE5 G antigen 5 GAGE5 2577
chrX 47600000 50100000 Xp11.23 300599 GAGE6 G antigen 6 GAGE6 2578 ENSG00000236362
chrX 47600000 50100000 Xp11.23 300601 GAGE7 G antigen 7 GAGE7 2579 ENSG00000236362
chrX 47600000 50100000 Xp11.23 300637 GAGE7B G antigen 7B GAGE12I 26748 ENSG00000236362
chrX 47600000 68500000 Xp11.2-q12 300433 MRX81 Mental retardation, X-linked 81 MRX81 266678 between DXS1039 and DXS1216 Mental retardation, X-linked 81, 300433 (2), X-linked recessive
chrX 47624212 47630304 Xp11.4-p11.23 Xp11.23 300383 PFC, PFD Properdin P factor, complement CFP 5199 ENSG00000126759 Properdin deficiency, X-linked, 312060 (3), X-linked recessive Cfp (MGI:97545)
chrX 47635519 47650603 Xp11.2 Xp11.23 311040 ELK1 ELK1, member of ETS oncogene family ELK1 2002 ENSG00000126767 distal to OATL1 Elk1 (MGI:101833)
chrX 47651791 47659179 Xp11.23 Xp11.23 300234 UXT Ubiquitously expressed transcript UXT 8409 ENSG00000126756 Uxt (MGI:1277988)
chrX 47836863 47925625 Xp22.1-p11 Xp11.23 314998 ZNF81 Zinc finger protein-81 (HFZ20) ZNF81 347344 ENSG00000197779
chrX 47974850 48003994 Xp11.3 Xp11.23 314993 ZNF21 Zinc finger protein-12 ZNF182 7569 ENSG00000147118 Zfp182 (MGI:2442220)
chrX 48004335 48009735 Xp11.23 Xp11.23 300593 SPACA5, LOC389852 Sperm acrosome associated 5 SPACA5 389852 ENSG00000171489 Spaca5 (MGI:2685564)
chrX 48058177 48071657 Xp11.23 Xp11.23 300819 ZNF630 Zinc finger protein 630 ZNF630 57232 ENSG00000221994
chrX 48107981 48120685 Xp11.23 Xp11.23 300541 SSX6 Synovial sarcoma, X breakpoint 6 SSX6 280657
chrX 48177981 48196797 Xp11.23 Xp11.23 300327 SSX5 Synovial sarcoma, X breakpoint 5 SSX5 6758 ENSG00000165583
chrX 48255316 48267443 Xp11.23 Xp11.23 312820 SSX1, SSRC Synovial sarcoma, X breakpoint 1 SSX1 6756 ENSG00000126752 fused with SYT in synovial sarcoma ?Sarcoma, synovial, 300813 (3)
chrX 48301549 48306178 Xp11.23 Xp11.23 300544 SSX9 Sarcoma, synovial, X breakpoint 9 SSX9 280660
chrX 48346427 48356752 Xp11.23 Xp11.23 300325 SSX3 Synovial sarcoma, X breakpoint 3 SSX3 10214 ENSG00000165584
chrX 48383526 48393342 Xp11.23 Xp11.23 300326 SSX4 Synovial sarcoma, X breakpoint 4 SSX4 6759 ENSG00000268009 Ssxb2 (MGI:2446771)
chrX 48458536 48470255 Xp11.23 Xp11.23 300649 SLC38A5, SN2 Solute carrier family 38 (amino acid transporter), member 5 SLC38A5 92745 ENSG00000017483 Slc38a5 (MGI:2148066)
chrX 48476020 48486363 Xp11.23 Xp11.23 300499 FTSJ1, JM23, SPB1, MRX44, MRX9 FTSJ homolog 1 FTSJ1 24140 ENSG00000068438 Mental retardation, X-linked 9/44, 309549 (3), X-linked recessive Ftsj1 (MGI:1859648)
chrX 48508958 48520813 Xp11.23 Xp11.23 300651 PORCN, PORC, DHOF, FODH Porcupine, Drosophila, homolog of PORCN 64840 ENSG00000102312 Focal dermal hypoplasia, 305600 (3), X-linked dominant Porcn (MGI:1890212)
chrX 48521775 48528715 Xp11.23-p11.22 Xp11.23 300205 EBP, CDPX2, CPXD, CPX, MEND Emopamil-binding protein EBP 10682 ENSG00000147155 Chondrodysplasia punctata, X-linked dominant, 302960 (3), X-linked dominant; MEND syndrome, 300960 (3), X-linked recessive Ebp (MGI:107822)
chrX 48539618 48562608 Xp11.3-p11.23 Xp11.23 311240 TBC1D25, OATL1 TBC1 domain family, member 25 TBC1D25 4943 ENSG00000068354 Tbc1d25 (MGI:2444862)
chrX 48574352 48581164 Xp11.23 Xp11.23 300027 RBM3 RNA binding motif protein 3 RBM3 5935 ENSG00000102317 Rbm3,Rbm3-ps (MGI:1099460,MGI:3642874)
chrX 48590052 48605193 Xp11.23 Xp11.23 300512 WDR13 WD repeat-containing protein 13 WDR13 64743 ENSG00000101940 Wdr13 (MGI:1914661)
chrX 48683752 48691426 Xp11.23-p11.22 Xp11.23 300392 WAS, IMD2, THC1, SCNX Wiskott-Aldrich syndrome gene WAS 7454 ENSG00000015285 t(18;X)(q11.2;p11.2); distal to TIMP Neutropenia, severe congenital, X-linked, 300299 (3), X-linked recessive; Thrombocytopenia, X-linked, 313900 (3), X-linked recessive; Thrombocytopenia, X-linked, intermittent, 313900 (3), X-linked recessive; Wiskott-Aldrich syndrome, 301000 (3), X-linked recessive Was (MGI:105059)
chrX 48695553 48709015 Xp11.23 Xp11.23 300254 SUV39H1 Suppressor of variegation 3-9, Drosophila, homolog of, 1 SUV39H1 6839 ENSG00000101945 Suv39h1 (MGI:1099440)
chrX 48786539 48794310 Xp11.23 Xp11.23 305371 GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP GATA-binding protein-1 (globin transcription factor-1) GATA1 2623 ENSG00000102145 Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3), X-linked recessive; Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3); Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3), X-linked recessive; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3), X-linked recessive Gata1 (MGI:95661)
chrX 48801376 48824981 Xp11.23 Xp11.23 300272 HDAC6, CPBHM Histone deacetylase 6 HDAC6 10013 ENSG00000094631 mutation identified in 1 CPBHM family ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863 (3), X-linked dominant Hdac6 (MGI:1333752)
chrX 48826512 48829868 Xp11.2 Xp11.23 300437 HRAS2, HRASP v-Ha-ras harvey rat sarcoma viral oncogene homolog 2 ERAS 3266 ENSG00000187682 Eras (MGI:2665023)
chrX 48831091 48835637 Xp11.3 Xp11.23 300399 PCSK1N, PROSAAS Proprotein convertase, subtilisin/kexin-type, 1, inhibitor of PCSK1N 27344 ENSG00000102109 Pcsk1n (MGI:1353431)
chrX 48893446 48898142 Xp11.2 Xp11.23 300249 TIMM17B, TIM17B Translocase of inner mitochondrial membrane 17, yeast, homolog of, B TIMM17B 10245 ENSG00000126768 Timm17b (MGI:1343176)
chrX 48897861 48903144 Xp11.23 Xp11.23 300463 PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8 Polyglutamine-binding protein 1 PQBP1 10084 ENSG00000102103 Renpenning syndrome, 309500 (3), X-linked recessive Pqbp1 (MGI:1859638)
chrX 48903179 48911957 Xp11.23-p11.22 Xp11.23 314375 SLC35A2, UGALT, UGTL, UGT2, CDGX, CDG2M Solute carrier family 35 (UDP-galactose transporter), member 2 SLC35A2 7355 ENSG00000102100 Congenital disorder of glycosylation, type IIm, 300896 (3), X-linked dominant, Somatic mosaicism
chrX 48913181 48919135 Chr.X Xp11.23 300295 PIM2 Oncogene PIM2 PIM2 11040 ENSG00000102096 Pim2 (MGI:97587)
chrX 48922023 48960782 Xp11.23 Xp11.23 300713 OTUD5, DUBA OTU domain-containing protein 5 OTUD5 55593 ENSG00000068308
chrX 48960982 48972102 Xp11.23 Xp11.23 300281 KCND1 Potassium voltage-gated channel, SHAL-related subfamily, member 1 KCND1 3750 ENSG00000102057 Kcnd1 (MGI:96671)
chrX 48973719 49002263 Xp11.23 Xp11.23 300408 GRIPAP1, GRASP1, KIAA1167 GRIP1-associated protein 1 GRIPAP1 56850 ENSG00000068400 Gripap1 (MGI:1859616)
chrX 49028725 49043516 Xp11.22 Xp11.23 314310 TFE3, RCCX1 Transcription factor for IgH enhancer TFE3 7030 ENSG00000068323 fuses with PRCC in RCCP Renal cell carcinoma, papillary, 1, 300854 (3) Tfe3 (MGI:98511)
chrX 49053431 49069857 Xp11.23 Xp11.23 300947 CCDC120 Coiled-coil domain-containing protein 120 CCDC120 90060 ENSG00000147144 Ccdc120 (MGI:1859619)
chrX 49071155 49074044 Xp11.23 Xp11.23 300840 PRAF2, JM4 PRA1 domain family, member 2 PRAF2 11230 ENSG00000243279 Praf2 (MGI:1859607)
chrX 49074432 49101120 Xp11.23 Xp11.23 300526 WDR45, WIPI4, NBIA5 WD repeat-containing protein 45 WDR45 11152 ENSG00000196998 ?pseudogene on 4q31.3 Neurodegeneration with brain iron accumulation 5, 300894 (3), X-linked dominant Wdr45 (MGI:1859606)
chrX 49113384 49124546 Xp11.23 Xp11.23 301003 GPKOW, GPATCH5 G-patch domain and KO@ motifs GPKOW 27238 ENSG00000068394 Gpkow (MGI:1859610)
chrX 49171836 49175119 Xp11.23-p11.22 Xp11.23 300112 PLP2 Proteolipid protein 2 PLP2 5355 ENSG00000102007 Plp2 (MGI:1298382)
chrX 49174801 49186399 Xp11.23 Xp11.23 300111 PRICKLE3, LMO6 Prickle, Drosophila, homolog of, 3 PRICKLE3 4007 ENSG00000012211 Prickle3 (MGI:1859635)
chrX 49187811 49200201 Xp11.23-p11.22 Xp11.23 313475 SYP, MRXSYP Synaptophysin SYP 6855 ENSG00000102003 Mental retardation, X-linked 96, 300802 (3), X-linked dominant Syp (MGI:98467)
chrX 49205062 49233403 Xp11.23 Xp11.23 300110 CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2 Calcium channel, voltage-dependent, alpha-1F subunit CACNA1F 778 ENSG00000102001 Aland Island eye disease, 300600 (3), X-linked; Cone-rod dystrophy, X-linked, 3, 300476 (3), X-linked recessive; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3), X-linked Cacna1f (MGI:1859639)
chrX 49235466 49250525 Xp11.23 Xp11.23 300859 CCDC22, RTSC2 Coiled-coil domain-containing protein 22 CCDC22 28952 ENSG00000101997 Ritscher-Schinzel syndrome 2, 300963 (3), X-linked recessive Ccdc22 (MGI:1859608)
chrX 49250435 49264931 Xp11.23-q13.3 Xp11.23 300292 FOXP3, IPEX, AIID, XPID, PIDX Forkhead box P3 (scurfin) FOXP3 50943 ENSG00000049768 {Diabetes mellitus, type I, susceptibility to}, 222100 (3), Autosomal recessive; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3), X-linked recessive Foxp3 (MGI:1891436)
chrX 49303645 49319843 Xp11.23 Xp11.23 300737 GAGE10 G antigen 10 GAGE10 102724473 ENSG00000215274
chrX 49322029 49329386 Xp11.23 Xp11.23 300733 GAGE12J G antigen 12J GAGE12J 729396 ENSG00000224659
chrX 49331602 49338951 Xp11.23 Xp11.23 300734 GAGE13 G antigen 13 GAGE13 645051 ENSG00000274274
chrX 49532176 49539540 Xp11.23 Xp11.23 300727 GAGE12C G antigen 12C GAGE12C 729422 ENSG00000237671
chrX 49541721 49549106 Xp11.23 Xp11.23 300728 GAGE12D G antigen 12D GAGE12D 100132399 ENSG00000227488
chrX 49551288 49558648 Xp11.23 Xp11.23 300729 GAGE12E G antigen 12E GAGE12E 729431 ENSG00000216649
chrX 49560807 49568207 Xp11.23 Xp11.23 300730 GAGE12F G antigen 12F GAGE12F 100008586 ENSG00000236362
chrX 49570396 49577756 Xp11.23 Xp11.23 300731 GAGE12G G antigen 12G GAGE12G 645073 ENSG00000215269
chrX 49579948 49587303 Xp11.23 Xp11.23 300732 GAGE12H G antigen 12H GAGE12H 729442 ENSG00000224902
chrX 49589514 49596826 Xp11.23 Xp11.23 300720 GAGE2A G antigen 2A GAGE2A 729447 ENSG00000189064
chrX 49598991 49608535 Xp11.23 Xp11.23 300594 GAGE1 G antigen 1 GAGE1 2543 ENSG00000205777
chrX 49687449 49696018 Xp11.23 Xp11.23 300288 GAGEB1, PAGE1 P antigen family, member 1 PAGE1 8712 ENSG00000068985
chrX 49829259 49834263 Xp11.23 Xp11.23 300287 PAGE4, GAGEC1 P antigen family, member 4 PAGE4 9506 ENSG00000101951
chrX 49879866 49882564 Xp11.2 Xp11.23 300975 USP27X, USP22L, MRX105 Ubiquitin-specific protease 27, X-linked USP27X 389856 ENSG00000273820 Mental retardation 105, 300984 (3), X-linked recessive Usp27x (MGI:1859645)
chrX 49922614 50099234 Xp11.22 Xp11.23 300008 CLCN5, CLCK2, NPHL2, DENTS, NPHL1 Chloride channel-5 CLCN5 1184 ENSG00000171365 Dent disease, 300009 (3), X-linked recessive; Hypophosphatemic rickets, 300554 (3), X-linked recessive; Nephrolithiasis, type I, 310468 (3), X-linked recessive; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3), X-linked recessive Clcn5 (MGI:99486)
chrX 50014597 50014682 Xp11.23 Xp11.23 300893 MIR502 Micro RNA 502 MIR502 574504
chrX 50100000 54800000 Xp11.22 300705 DUPXp11.22, MRX17, MRX31 Xp11.22 microduplication syndrome minimal duplicated region 228 kb overlapping HUWE1 and HSD17B10 Xp11.22 microduplication syndrome, 300705 (4)
chrX 50100000 54800000 Xp11.22 300704 HPCX2 Prostate cancer, hereditary, X-linked 2 100188769 associated with rs5945572 {Prostate cancer, hereditary, X-linked 2}, 300704 (2)
chrX 50100000 54800000 Xp11.22 300856 HYSP4 Hypospadias 4, X-linked, susceptibility to 100689214 associated with rs1934179 and rs7063116 {Hypospadias 4, X-linked, susceptibility to}, 300856 (2)
chrX 50190767 50201012 Xp11.2 Xp11.22 300185 AKAP4, AKAP82, HI, FSC1 A-kinase anchor protein 4, 82kD AKAP4 8852 ENSG00000147081 Akap4 (MGI:102794)
chrX 50202712 50351913 Xp11.22 Xp11.22 300456 CCNB3 Cyclin B3 CCNB3 85417 ENSG00000147082 Ccnb3 (MGI:2183443)
chrX 50365406 50470850 Xp11.22 Xp11.22 300837 DGKK Diacylglycerol kinase, kappa, 142kD DGKK 139189 ENSG00000274588 Dgkk (MGI:3580254)
chrX 50575533 50814163 Xp11.2 Xp11.22 300579 SHROOM4, KIAA1202, SDSX Shroom family member 4 SHROOM4 57477 ENSG00000158352 Stocco dos Santos X-linked mental retardation syndrome, 300434 (3), X-linked Shroom4 (MGI:2685570)
chrX 50910734 50916640 Xp11.2 Xp11.22 300247 BMP15, GDF9B, ODG2, POF4 Bone morphogenetic protein 15 BMP15 9210 ENSG00000130385 Ovarian dysgenesis 2, 300510 (3), X-linked; Premature ovarian failure 4, 300510 (3), X-linked Bmp15 (MGI:1316745)
chrX 51332230 51337524 Xp11.23 Xp11.22 300527 NUDT10, DIPP3A, APS2 Nucleoside diphosphate-linked moiety X motif 10 NUDT10 170685 ENSG00000122824
chrX 51490010 51496606 Xp11.23 Xp11.22 300528 NUDT11, DIPP3B, APS1 Nucleoside diphosphate-linked moiety X motif 11 NUDT11 55190 ENSG00000196368 Nudt11,Nudt10 (MGI:2147931,MGI:1930957)
chrX 51743384 51746231 Xp11.23-p11.21 Xp11.22 300418 GSPT2, GST2, ERF3B G1- to S-phase transition 2 GSPT2 23708 ENSG00000189369 Gspt2 (MGI:1316727)
chrX 51802997 51902353 Xp11.23 Xp11.22 300224 MAGED1 Melanoma antigen, family D, 1 MAGED1 9500 ENSG00000179222 Maged1 (MGI:1930187)
chrX 52061826 52069271 Xp11 Xp11.22 300765 MAGED4B Melanoma antigen, family D, 4B MAGED4B 81557 ENSG00000187243
chrX 52184822 52192267 Xp11 Xp11.22 300702 MAGED4, MAGEE1, KIAA1859 Melanoma antigen, family D, 4 MAGED4 728239 ENSG00000154545
chrX 52368995 52375682 Xp11.22 Xp11.22 300416 XAGE2, GAGED3 X antigen family, member 2 XAGE2 9502 ENSG00000155622
chrX 52495667 52500814 Xp11.22 Xp11.22 300742 XAGE1A X antigen family, member 1A XAGE1A 653220 ENSG00000204379
chrX 52495667 52500814 Xp11.22 Xp11.22 300743 XAGE1B X antigen family, member 1B XAGE1A 653220 ENSG00000204379
chrX 52512073 52517220 Xp11.22 Xp11.22 300744 XAGE1C X antigen family, member 1C XAGE1B 653067 ENSG00000204382
chrX 52512073 52517220 Xp11.22 Xp11.22 300745 XAGE1E X antigen family, member 1E XAGE1B 653067 ENSG00000204382
chrX 52512073 52517220 Chr.X Xp11.22 300289 GAGED2, XAGE1 G antigen, family D, 2 XAGE1B 653067 ENSG00000204382
chrX 52622934 52633947 Xp11.22 Xp11.22 300543 SSX8 Sarcoma, synovial, X breakpoint 8 SSX8 280659
chrX 52644060 52654899 Xp11.22 Xp11.22 300542 SSX7 Sarcoma, synovial, X breakpoint 7 SSX7 280658 ENSG00000187754
chrX 52696895 52707226 Xp11.22 Xp11.22 300192 SSX2 Sarcoma, synovial, X breakpoint 2 SSX2 6757 ENSG00000241476 ?Sarcoma, synovial, 300813 (3)
chrX 52796145 52797347 Xp11 Xp11.22 300668 SPANXN5 SPANX family, member N5 SPANXN5 494197 ENSG00000204363
chrX 52862527 52868139 Xp11.22 Xp11.22 300740 XAGE3, PLAC6 X antigen family, member 3 XAGE3 170626 ENSG00000171402
chrX 53049323 53080614 Xp11.22 Xp11.22 300253 GPR173, SREB3 G protein-coupled receptor 173 GPR173 54328 ENSG00000184194 Gpr173 (MGI:1918021)
chrX 53082359 53088545 Xp11.2 Xp11.22 300564 TSPYL2, CDA1, DENTT, CINAP TSPY-like 2 TSPYL2 64061 ENSG00000184205 Tspyl2 (MGI:106244)
chrX 53159734 53225421 Xp11.22-p11.21 Xp11.22 314690 KDM5C, JARID1C, SMCX, DXS1272E, XE169, MRXSCJ Lysine-specific demethylase 5C (Jumonji, AT-rich interactive domain 1C) KDM5C 8242 ENSG00000126012 escapes inactivation Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3), X-linked recessive Kdm5c (MGI:99781)
chrX 53225783 53321355 Xp11.22 Xp11.22 300522 IQSEC2, KIAA0522, MRX1, MRX78 IQ motif- and Sec7 domain-containing protein 2 IQSEC2 23096 ENSG00000124313 Mental retardation, X-linked 1/78, 309530 (3), X-linked dominant Iqsec2 (MGI:3528396)
chrX 53374148 53422727 Xp11.22-p11.21 Xp11.22 300040 SMC1A, SMC1L1, SMC1, DXS423E, KIAA0178, CDLS2 Segregation of mitotic chromosomes 1 (SMC1, yeast, homolog of; DXS423E; SB1.8) SMC1A 8243 ENSG00000072501 escapes lyonization Cornelia de Lange syndrome 2, 300590 (3), X-linked dominant Smc1a (MGI:1344345)
chrX 53431257 53434375 Xp11.2 Xp11.22 300256 HSD17B10, HADH2, ERAB, MRXS10, HSD10MD 17-beta-hydroxysteroid dehydrogenase X HSD17B10 3028 ENSG00000072506 HSD10 mitochondrial disease, 300438 (3), X-linked dominant Hsd17b10 (MGI:1333871)
chrX 53532095 53686728 Xp11.2 Xp11.22 300697 HUWE1, UREB1, KIAA0312, LASU1 HECT, UBA, and WWE domains-containing protein 1 HUWE1 10075 ENSG00000086758 Mental retardation, X-linked syndromic, Turner type, 300706 (3) Huwe1 (MGI:1926884)
chrX 53556222 53556340 Xp11.22 Xp11.22 300810 MIR98, MIRN98 Micro RNA 98 MIR98 407054
chrX 53557191 53557273 Xp11.22 Xp11.22 300721 MIRLET7F2, LET7F2, MIRNLET7F2 Micro RNA Let7f2 MIRLET7F2 406889
chrX 53936679 54048934 Xp11.2 Xp11.22 300560 PHF8, ZNF422, KIAA1111, MRXSSD PHD finger protein 8 PHF8 23133 ENSG00000172943 Mental retardation syndrome, X-linked, Siderius type, 300263 (3), X-linked recessive Phf8 (MGI:2444341)
chrX 54068323 54183283 Xp11.2 Xp11.22 300741 FAM120C, CXorf17 Family with sequence similarity 120, member C FAM120C 54954 ENSG00000184083 Fam120c (MGI:2387687)
chrX 54192822 54358694 Xp11.2 Xp11.22 300358 WNK3, PRKWNK3, KIAA1566 WNK lysine deficient protein kinase 3 WNK3 65267 ENSG00000196632 Wnk3 (MGI:2652875)
chrX 54440374 54448031 Xp11.22 Xp11.22 300945 TSR2, WGG1, DBA14 TSR2, 20S rRNA accumulation, S. cerevisiae, homolog of TSR2 90121 ENSG00000158526 mutation identified in 1 DBA14 family ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 (3), X-linked recessive Tsr2 (MGI:1916749)
chrX 54445453 54496165 Xp11.21 Xp11.22 300546 FGD1, FGDY, AAS, MRXS16 FYVE, RhoGEF, and PH domain-containing protein 1 FGD1 2245 ENSG00000102302 Aarskog-Scott syndrome, 305400 (3), X-linked recessive; Mental retardation, X-linked syndromic 16, 305400 (3), X-linked recessive Fgd1 (MGI:104566)
chrX 54530210 54567286 Xp11.22 Xp11.22 300873 GNL3L Guanine nucleotide binding protein-like 3-like protein GNL3L 54552 ENSG00000130119 Gnl3l (MGI:2448557)
chrX 54800000 109400000 Xp11.21-q22.3 300504 MRX52 Mental retardation, X-linked 52 ATRX 546 ENSG00000085224 max lod at DXS559 Mental retardation, X-linked 52, 300504 (2), X-linked recessive
chrX 54807598 54816014 Xp11.2 Xp11.21 300470 MAGED2, MAGED, BARTS5 Melanoma antigen, family D, 2 MAGED2 10916 ENSG00000102316 Bartter syndrome, type 5, antenatal, transient, 300971 (3), X-linked recessive Maged2 (MGI:1933391)
chrX 54814369 54814499 Xp11.21 Xp11.21 300662 SNORA11 Small nucleolar RNA, H/ACA box, 11 SNORA11 677799 in intron 1 of MAGED2
chrX 54920562 54931435 Xp11.22-p11.21 Xp11.21 300132 TRO Trophinin TRO 7216 ENSG00000067445 Tro (MGI:1928994)
chrX 54933133 55000051 Xp11.21 Xp11.21 311790 PFKFB1, PFRX Fructose-2,6-bisphosphatase PFKFB1 5207 ENSG00000158571 ?Xq27-q25; ?Xcen-q13 Pfkfb1 (MGI:107816)
chrX 55000322 55007872 Xp11.21 Xp11.21 300773 APEX2, APE2, XTH2, APEXL2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 APEX2 27301 ENSG00000169188 Apex2 (MGI:1924872)
chrX 55009054 55031063 Xp11.21 Xp11.21 301300 ALAS2, ANH1, ASB, XLEPP, XLSA, SIDBA1 Aminolevulinate, delta-, synthase-2 ALAS2 212 ENSG00000158578 Anemia, sideroblastic, 1, 300751 (3), X-linked recessive; Protoporphyria, erythropoietic, X-linked, 300752 (3), X-linked dominant Alas2 (MGI:87990)
chrX 55089051 55092835 Xp11.21 Xp11.21 300738 PAGE2, GAGEC2 P antigen family, member 2 PAGE2 203569 ENSG00000234068
chrX 55220346 55224107 Xp11.21 Xp11.21 301009 PAGE5, CT16, GAGEE1 P antigen family, member 5 PAGE5 90737 ENSG00000158639
chrX 55257600 55264915 Xp11.21 Xp11.21 300739 PAGE3, GAGEC1 P antigen family, member 3 PAGE3 139793 ENSG00000204279
chrX 55452088 55453567 Xp11.21 Xp11.21 300548 MAGEH1, MAGEH Melanoma antigen, family H, 1 MAGEH1 28986 ENSG00000187601 Mageh1 (MGI:1922875)
chrX 55623399 55626187 Xp11.21 Xp11.21 300949 FOXR2, FOXN6 Forkhead box R2 FOXR2 139628 ENSG00000189299 Foxr2 (MGI:3511682)
chrX 55717676 55760208 Xp11.21 Xp11.21 300725 RRAGB, RAGB Ras-related GTP-binding protein B RRAGB 10325 ENSG00000083750 Rragb (MGI:3038613)
chrX 55908122 56291530 Chr.X Xp11.21 300286 KLF8, ZNF741, BKLF3 Kruppel-like factor 8 KLF8 11279 ENSG00000102349 Klf8 (MGI:2442430)
chrX 56563592 56567009 Xp11.23-p11.1 Xp11.21 300264 UBQLN2, PLIC2, CHAP1, ALS15 Ubiquilin 2 UBQLN2 29978 ENSG00000188021 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3), X-linked dominant Ubqln2 (MGI:1860283)
chrX 56729218 56819178 Xp11.1 Xp11.21 300992 NBDY, LINC01420, NOBODY Negative regulator of P-body association NBDY 550643 ENSG00000204272
chrX 57112141 57121904 Xp11.21 Xp11.21 300517 SPIN2 Spindlin family, member 2 SPIN2B 474343 ENSG00000186787 Gm21637,Spin2e,Spin2d,Gm5923,Gm3757,Gm5926,Gm2854,Spin2-ps4,Gm2892,Spin2-ps1,Gm21466,Spin2-ps3,Spin2-ps2 (MGI:1922101,MGI:3781932,MGI:3645924,MGI:3650966,MGI:3645574,MGI:5434847,MGI:5434821,MGI:3781070,MGI:3647272,MGI:3781026,MGI:3805546,MGI:5434992,MGI:3705652)
chrX 57121860 57489195 Xp11 Xp11.21 300654 FAAH2 Fatty acid amide hydrolase 2 FAAH2 158584 ENSG00000165591
chrX 57133042 57138687 Xp11.21 Xp11.21 300621 DSF34 DXF34 gene SPIN2A 54466 ENSG00000147059 Gm21637,Spin2e,Spin2d,Gm5923,Gm3757,Gm5926,Gm2854,Spin2-ps4,Gm2892,Spin2-ps1,Gm21466,Spin2-ps3,Spin2-ps2 (MGI:1922101,MGI:3781932,MGI:3645924,MGI:3650966,MGI:3645574,MGI:5434847,MGI:5434821,MGI:3781070,MGI:3647272,MGI:3781026,MGI:3805546,MGI:5434992,MGI:3705652)
chrX 57591835 57597476 Xp11.21 Xp11.21 300236 ZXDB Zinc finger-encoding gene, X-linked, duplicated, B ZXDB 158586 ENSG00000198455 Zxdb (MGI:3694898)
chrX 57905429 57910632 Xp11.21 Xp11.21 300235 ZXDA Zinc finger-encoding gene, X-linked, duplicated, A ZXDA 7789 ENSG00000198205
chrX 61000000 68500000 Xq11-q12 300710 AGA2 Alopecia, androgenetic, 2 100188771 associated with rs6152 Alopecia, androgenetic, 2, 300710 (2)
chrX 61000000 156040895 Xq 300082 CGF1 Cognitive function-1, social CGF1 1083 imprinted locus [Social cognition], 300082 (2), X-linked
chrX 61000000 156040895 Xq 300010 DXS435E, A11 A-11 gene 8248
chrX 61000000 156040895 Xq 300125 MGR2 Migraine, familial typical, susceptibility to, 2 8249 {Migraine, familial typical, susceptibility to, 2}, 300125 (2), X-linked
chrX 61000000 156040895 Xq 300259 MTBSX Mycobacterium tuberculosis, susceptibility to, X-linked 57789 {Mycobacterium tuberculosis, susceptibility, X-linked}, 300259 (2)
chrX 63634966 63785545 Xq22.1 Xq11.1 300429 ARHGEF9, PEM2, KIAA0424, EIEE8 Rho guanine nucleotide exchange factor 9 ARHGEF9 23229 ENSG00000131089 Epileptic encephalopathy, early infantile, 8, 300607 (3), X-linked recessive Arhgef9 (MGI:2442233)
chrX 63800000 65400000 Xq11.2 300266 SPG16 Spastic paraplegia 16, X-linked, complicated SPG16 57760 Spastic paraplegia 16, X-linked, complicated, 300266 (2), X-linked recessive
chrX 64185116 64205743 Xq11.1 Xq11.2 300647 AMER1, FAM123B, WTX, OSCS APC membrane recruitment protein 1 AMER1 139285 ENSG00000184675 Osteopathia striata with cranial sclerosis, 300373 (3), X-linked dominant Amer1 (MGI:1919595)
chrX 64224191 64230630 Xq11.2 Xq11.2 300891 ASB12 Ankyrin repeat- and SOCS box-containing protein 12 ASB12 142689 ENSG00000198881 Asb12 (MGI:1917642)
chrX 64915801 65034743 Xq11.2 Xq11.2 300897 ZC4H2, KIAA1166, WRWF Zinc finger C4H2 domain-containing protein ZC4H2 55906 ENSG00000126970 Wieacker-Wolff syndrome, 314580 (3), X-linked recessive Zc4h2 (MGI:2679294)
chrX 65034814 65507886 Xq12 Xq11-q12 300889 ZC3H12B, MCPIP2 Zinc finger CCCH domain-containing protein 12B ZC3H12B 340554 ENSG00000102053 Zc3h12b (MGI:2442133)
chrX 65400000 99100000 Xq12-q21.3 300454 MRX77 Mental retardation, X-linked 77 MRX77 93991 Mental retardation, X-linked 77, 300454 (2), X-linked recessive
chrX 65400000 92700000 Xq12-q21.31 300709 MRXS9 Mental retardation, X-linked, syndromic 9 between DXS1111 and DXS1197 Mental retardation, X-linked, syndromic 9, 300709 (2)
chrX 65512581 65534805 Xq12 Xq12 300964 LAS1L, WTS Las1-like ribosome biogenesis factor LAS1L 81887 ENSG00000001497 Wilson-Turner syndrome, 309585 (3), X-linked recessive Las1l (MGI:1923380)
chrX 65588381 65741930 Xq11.2-q12 Xq12 309845 MSN, IMD50 Moesin MSN 4478 ENSG00000147065 Immunodeficiency 50, 300988 (3), X-linked recessive Msn (MGI:97167)
chrX 66018869 66018978 Xq12 Xq12 300694 MIR223, MIRN223 Micro RNA 223 MIR223 407008
chrX 66021737 66040124 Xq12 Xq12 300353 Z39IG Immunoglobulin superfamily protein Z39IG VSIG4 11326 ENSG00000155659 Vsig4 (MGI:2679720)
chrX 66162525 66267388 Xq11-q12 Xq12 300167 HEPH Hephaestin HEPH 9843 ENSG00000089472 Heph (MGI:1332240)
chrX 66594383 66639302 Xq12 Xq12 300276 EDAR2, XEDAR, EDAA2R Ectodysplasin A2 receptor EDA2R 60401 ENSG00000131080 Eda2r (MGI:2442860)
chrX 67544622 67730618 Xq11-q12 Xq12 313700 AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 Androgen receptor (dihydrotestosterone receptor) AR 367 ENSG00000169083 Androgen insensitivity, 300068 (3), X-linked recessive; Androgen insensitivity, partial, with or without breast cancer, 312300 (3), X-linked recessive; Hypospadias 1, X-linked, 300633 (3), X-linked recessive; {Prostate cancer, susceptibility to}, 176807 (3), Autosomal dominant; Spinal and bulbar muscular atrophy of Kennedy, 313200 (3), X-linked recessive Ar (MGI:88064)
chrX 68042343 68433840 Xq12 Xq12 300127 OPHN1, MRX60 Oligophrenin-1 OPHN1 4983 ENSG00000079482 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3), X-linked recessive Ophn1 (MGI:2151070)
chrX 68498361 68572458 Xq12-q13.1 Xq12-q13 300996 YIPF6 YIP1 domain family, member 6 YIPF6 286451 ENSG00000181704 Yipf6 (MGI:1925179)
chrX 68500000 103300000 Xq13.1-q22.1 300580 CFTDX Myopathy, congenital, with fiber-type disproportion, X-linked 100188765 between DXS8019 and DXS99 Myopathy, congenital, with fiber-type disproportion, X-linked, 300580 (2), X-linked dominant
chrX 68500000 109400000 Xq13-q22 309605 MCS, MRXS4 Miles-Carpenter syndrome (mental retardation, X-linked, syndromic 4, with congenital contractures and low fingertip arches) linked to DXYS1 Miles-Carpenter syndrome, 309605 (2)
chrX 68647668 68725841 Xq13.1 Xq13.1 300689 STARD8, DLC3, STARTGAP3, KIAA0189 START domain-containing protein 8 STARD8 9754 ENSG00000130052 Stard8 (MGI:2448556)
chrX 68828996 68842163 Xq12 Xq13.1 300035 EFNB1, EPLG2, CFNS, CFND eph-related receptor tyrosine kinase ligand 2 (ephrin B1) EFNB1 1947 ENSG00000090776 ?CFNS also on Xp22 Craniofrontonasal dysplasia, 304110 (3), X-linked dominant Efnb1 (MGI:102708)
chrX 69160737 69165521 Xq13.1 Xq13.1 300420 PJA1 Praja 1 PJA1 64219 ENSG00000181191 Pja1 (MGI:1101765)
chrX 69616066 70039471 Xq12-q13.1 Xq13.1 300451 EDA, ED1, ECTD1, HED1, STHAGX1 Ectodysplasin A EDA 1896 ENSG00000158813 Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3), X-linked recessive; Tooth agenesis, selective, X-linked 1, 313500 (3), X-linked dominant
chrX 70040541 70049969 Xq13.1 Xq13.1 300925 AWAT2, DC4, MFAT Acyl-CoA wax alcohol acyltransferase 2 AWAT2 158835 ENSG00000147160 Awat2 (MGI:3045345)
chrX 70062490 70064178 Xq13.1 Xq13.1 300714 OTUD6A, DUBA2 OTU domain-containing protein 6A OTUD6A 139562 ENSG00000189401 Otud6a (MGI:3644685)
chrX 70133448 70166323 Xq13.1-q13.3 Xq13.1 300139 IGBP1 Immunoglobulin-binding protein 1 IGBP1 3476 ENSG00000089289 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3), X-linked recessive Igbp1 (MGI:1346500)
chrX 70177482 70205702 Xq13.1 Xq13.1 300926 DGAT2L6, DC3 Diacylglycerol O-acyltransferase 2-like 6 DGAT2L6 347516 ENSG00000184210 Dgat2l6 (MGI:3045268)
chrX 70233488 70240660 Xq13.1 Xq13.1 300924 AWAT1, DGA2 Acyl-CoA wax alcohol acyltransferase 1 AWAT1 158833 ENSG00000204195 Awat1 (MGI:3588200)
chrX 70258165 70259803 Xq13 Xq13.1 300038 P2RY4, NRU, P2Y4 Pyrimidinergic receptor P2Y, G-protein coupled, 4 P2RY4 5030 ENSG00000186912 P2ry4 (MGI:1926594)
chrX 70268334 70281839 Xcen-q21 Xq13.1 301770 ARR3, MYP26 Arrestin 3, retinal ARR3 407 ENSG00000120500 Myopia 26, X-linked, female-limited, 301010 (3), X-linked Arr3 (MGI:2159617)
chrX 70286360 70289957 Xq13.1 Xq13.1 300632 PDZD11, AIPP1, PISP PDZ domain-containing 11 PDZD11 51248 ENSG00000120509 Pdzd11 (MGI:1919871)
chrX 70290028 70420923 Xq13.1 Xq13.1 300521 KIF4A, KIF4, MRX100 Kinesin family member 4A KIF4A 24137 ENSG00000090889 mutation identified in 1 MRX100 family ?Mental retardation, X-linked 100, 300923 (3), X-linked recessive Kif4 (MGI:108389)
chrX 70423030 70433390 Xq13.1 Xq13.1 300940 GDPD2, GDE3 Glycerophosphodiester phosphodiesterase domain-containing protein 2 GDPD2 54857 ENSG00000130055 Gdpd2 (MGI:1918834)
chrX 70444849 70505489 Xq13.1 Xq13.1 300189 DLG3, NEDLG, SAP102, MRX90 Discs large, Drosophila, homolog of, 3 DLG3 1741 ENSG00000082458 Mental retardation, X-linked 90, 300850 (3), X-linked recessive Dlg3 (MGI:1888986)
chrX 70511226 70908716 Xq13.1 Xq13.1 300311 TEX11, SPGFX2 Testis-expressed gene 11 TEX11 56159 ENSG00000120498 Spermatogenic failure, X-linked, 2, 309120 (3), X-linked recessive Tex11 (MGI:1933237)
chrX 70925578 70931124 Xq13.1 Xq13.1 300443 SLC7A3, CAT3 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 SLC7A3 84889 ENSG00000165349 Slc7a3 (MGI:1100521)
chrX 71059246 71073425 Xq13.1 Xq13.1 300883 SNX12 Sorting nexin 12 SNX12 29934 ENSG00000147164 Snx12 (MGI:1919331)
chrX 71096148 71103533 Xq13.1 Xq13.1 300033 FOXO4, MLLT7, AFX1 Forkhead box O4 FOXO4 4303 ENSG00000184481 Foxo4 (MGI:1891915)
chrX 71107403 71111630 Xq13 Xq13.1 308380 IL2RG, SCIDX1, SCIDX, IMD4 Interleukin-2 receptor, gamma IL2RG 3561 ENSG00000147168 linked to DXS159 Combined immunodeficiency, X-linked, moderate, 312863 (3), X-linked recessive; Severe combined immunodeficiency, X-linked, 300400 (3), X-linked recessive Il2rg (MGI:96551)
chrX 71118555 71142453 Xq13 Xq13.1 300188 MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX Mediator of RNA polymerase II transcription, subunit 12, S. cerevisiae, homolog of MED12 9968 ENSG00000184634 Lujan-Fryns syndrome, 309520 (3), X-linked recessive; Ohdo syndrome, X-linked, 300895 (3), X-linked recessive; Opitz-Kaveggia syndrome, 305450 (3), X-linked recessive Med12 (MGI:1926212)
chrX 71144388 71175306 Xq13 Xq13.1 300336 NLGN3, ASPGX1, AUTSX1 Neuroligin 3 NLGN3 54413 ENSG00000196338 {Asperger syndrome susceptibility, X-linked 1}, 300494 (3), Isolated cases, X-linked, Multifactorial; {Autism susceptibility, X-linked 1}, 300425 (3), Isolated cases, X-linked, Multifactorial Nlgn3 (MGI:2444609)
chrX 71215211 71225214 Xq13.1 Xq13.1 304040 GJB1, CX32, CMTX1 Gap junction protein, beta-1, 32kD (connexin 32) GJB1 2705 ENSG00000169562 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3), X-linked dominant Gjb1 (MGI:95719)
chrX 71239623 71255196 Xq13.1 Xq13.1 300061 ZMYM3, ZNF261, DXS6673E Zinc finger, MYM-type 3 ZMYM3 9203 ENSG00000147130 Zmym3 (MGI:1927231)
chrX 71283191 71301167 Xq13.1 Xq13.1 300084 NONO, NRB54, MRXS34 Non-Pou domain-containing octamer (ATGCAAAT) binding protein (nuclear RNA-binding protein, 54-kD) NONO 4841 ENSG00000147140 2Mb proximal to PHKA1 Mental retardation, X-linked, syndromic 34, 300967 (3), X-linked Nono (MGI:1855692)
chrX 71301733 71305370 Xq12-q13 Xq13.1 300332 ITGB1BP2 Integrin, beta-1, binding protein of, 2 ITGB1BP2 26548 ENSG00000147166 Itgb1bp2 (MGI:1353420)
chrX 71366219 71530524 Xq13 Xq13.1 313650 TAF1, TAF2A, CCG1, BA2R, DYT3, MRXS33 TAF1 RNA polymerase II, TATA box-binding protein-associated factor, 250kD TAF1 6872 ENSG00000147133 SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250 (3), X-linked recessive; Mental retardation, X-linked, syndromic 33, 300966 (3), X-linked recessive Taf1 (MGI:1336878)
chrX 71491680 71492448 Xq12 Xq13.1 300452 INGX, ING2 Inhibitor of growth, X-linked INGX 27160
chrX 71533061 71575896 Xq13 Xq13.1 300255 OGT, MRX106 O-linked N-acetylglucosamine transferase OGT 8473 ENSG00000147162 Mental retardation, X-linked 106, 300997 (3), X-linked recessive Ogt (MGI:1339639)
chrX 71578023 71613582 Xq13.1 Xq13.1 300369 ACRC Acidic repeat-containing gene GCNA 93953 ENSG00000147174
chrX 71615912 71618516 Xq13 Xq13.1 300574 CXCR3, GPR9, CD182 Chemokine, C-X-C motif, receptor 3 (G protein-coupled receptor-9) CXCR3 2833 ENSG00000186810 previously assigned to chr.8 Cxcr3 (MGI:1277207)
chrX 72181675 72263963 Xq13 Xq13.1 300252 PIN4, PAR14, EPVH Peptidyl-prolyl cis/trans isomerase, nima-interacting, 4 PIN4 5303 ENSG00000102309 Pin4 (MGI:1916963)
chrX 72204654 72239046 Xq13.1 Xq13.1 300687 ERCC6L, PICH ERCC6-like ERCC6L 54821 ENSG00000186871 Ercc6l (MGI:2654144)
chrX 72272602 72277290 Xq13.1 Xq13.1 312760 RPS4X, CCG2, SCAR Ribosomal protein S4, X-linked RPS4X 6191 ENSG00000198034 cen-RPS4X-PHKA1-XIST-qter in 2.6Mb
chrX 72301637 72307186 Xq13.1 Xq13.1 300149 MSG1 Melanocyte-specific gene 1 CITED1 4435 ENSG00000125931 Cited1 (MGI:108023)
chrX 72329515 72573102 Xq13 Xq13.1 300269 HDAC8, MRXS6, CDLS5 Histone deacetylase 8 HDAC8 55869 ENSG00000147099 Cornelia de Lange syndrome 5, 300882 (3), X-linked dominant Hdac8 (MGI:1917565)
chrX 72578813 72714180 Xq13 Xq13.1 311870 PHKA1 Phosphorylase kinase, muscle, alpha polypeptide PHKA1 5255 ENSG00000067177 ?proximal and close to PGKA; Muscle glycogenosis, 300559 (3), X-linked recessive Phka1 (MGI:97576)
chrX 72872024 72943930 Xq13 Xq13.1 300878 DMRTC1 Doublesex- and MAB3-related transcription factor C1 DMRTC1 63947 ENSG00000269502
chrX 73000000 74700000 Xq13.2 300262 MRXSAB Abidi X-linked mental retardation syndrome 57792 Mental retardation, X-linked syndromic, Abidi type, 300262 (2)
chrX 73212298 73214873 Xq13.2 Xq13.2 300026 NAP1L2, BPX Nucleosome assembly protein 1-like 2 NAP1L2 4674 ENSG00000186462 Nap1l2 (MGI:106654)
chrX 73447253 73454584 Xq13.2 Xq13.2 300025 CDX4 Caudal type homeo box transcription factor 4 CDX4 1046 ENSG00000131264 Cdx4 (MGI:88362)
chrX 73563044 73687108 Xq13.2 Xq13.2 300922 CHIC1, BRX Cystein-rich hydrophobic domain protein 1 CHIC1 53344 ENSG00000204116 Chic1 (MGI:1344694)
chrX 73792204 73829230 Xq13.2 Xq13.2 300181 TSIX X-inactivation-specific transcript-antisense TSIX 9383
chrX 73820650 73852752 Xq13.2 Xq13.2 314670 XIC, XCE, XIST, SXI1 X chromosome controlling element (X-inactivation center) XIST 7503 q13-q21; metaphase bend, or fold, at q13.3-q21.1 X-inactivation, familial skewed, 300087 (3)
chrX 73944323 74070383 Xq13.2 Xq13.2 300832 NCRNA00183, JPX, ENOX Noncoding RNA 183 JPX 554203
chrX 74028135 74293573 Xq13.2 Xq13.2 300936 FTX, LINC00182 FTX transcript, XIST regulator, noncoding FTX 100302692
chrX 74421492 74533928 Xq13.2 Xq13.2 300095 SLC16A2, DXS128, XPCT Solute carrier family 16 (monocarboxylic acid transporters), member 2 SLC16A2 6567 ENSG00000147100 Allan-Herndon-Dudley syndrome, 300523 (3), X-linked Slc16a2 (MGI:1203732)
chrX 74582975 74614625 Xq13-q21 Xq13.2 300379 RNF12, RLIM, MRX61 Putative RING zinc finger protein NY-REN-43 antigen RLIM 51132 ENSG00000131263 Mental retardation, X-linked 61, 300978 (3), X-linked recessive Rlim (MGI:1342291)
chrX 74732855 74925451 Xq13.2 Xq13.3 300524 NEXMIF, KIAA2022, MRX98 Neurite extension and migration factor NEXMIF 340533 ENSG00000050030 inv(X)(q13;p22) Mental retardation, X-linked 98, 300912 (3), X-linked dominant Nexmif (MGI:2148050)
chrX 75053279 75156339 Xq13.1-q13.3 Xq13.3 300135 ABCB7, ABC7, ASAT ATP-binding cassette-7 ABCB7 22 ENSG00000131269 Anemia, sideroblastic, with ataxia, 301310 (3), X-linked recessive Abcb7 (MGI:109533)
chrX 75156378 75304896 Xq13.3 Xq13.3 300656 UPRT Uracil phosphoribosyltransferase, S. cerevisiae, homolog of UPRT 139596 ENSG00000094841 Uprt (MGI:2685620)
chrX 75368426 75523501 Xq13.3 Xq13.3 300576 ZDHHC15, MRX91 Zinc finger DHHC domain-containing protein 15 ZDHHC15 158866 ENSG00000102383 disruption of ZDHHC15 identified in 1 patient ?Mental retardation, X-linked 91, 300577 (3), X-linked dominant Zdhhc15 (MGI:1915336)
chrX 75582653 75586207 Xq13.3 Xq13.3 300956 BRAFP1 BRAF pseudogene 1 BRAFP1 286494
chrX 75782987 75785243 Xq13.1 Xq13.3 300760 MAGEE2 Melanoma antigen, family E, 2 MAGEE2 139599 ENSG00000186675 Magee2 (MGI:2148316)
chrX 76427652 76431352 Xq13.1 Xq13.3 300759 MAGEE1, DAMAGE, KIAA1587 Melanoma antigen, family E, 1 MAGEE1 57692 ENSG00000198934 Magee1 (MGI:2148149)
chrX 76800000 99100000 Xq21 303110 DELXq21, CXDELq21 Chromosome Xq21 deletion syndrome at least CHM and POU3F4 deleted Choroideremia, deafness, and mental retardation, 303110 (4), X-linked recessive
chrX 76800000 129500000 Xq21-q25 300557 PARK12 Parkinson disease-12 PARK12 677662 max lod with DXS1106, DXS8055, DXS1001 {Parkinson disease 12}, 300557 (2)
chrX 77447674 77456521 Xq21.1 Xq21.1 300827 FGF16, MF4 Fibroblast growth factor 16 FGF16 8823 ENSG00000196468 previously mapped to 8q21.3 Metacarpal 4-5 fusion, 309630 (3), X-linked recessive
chrX 77504877 77786268 Xq13 Xq21.1 300032 ATRX, XH2, XNP, SHS, SFM1, MRXHF1 ATR-X gene (helicase 2; X-linked nuclear protein) ATRX 546 ENSG00000085224 Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3); Alpha-thalassemia/mental retardation syndrome, 301040 (3), X-linked dominant; Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3), X-linked recessive
chrX 77826363 77895567 Xq13.1-q13.2 Xq21.1 300715 MAGT1, IAP, XMEN Magnesium transporter 1 MAGT1 84061 ENSG00000102158 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3) Magt1 (MGI:1914325)
chrX 77899463 77905383 Xq21.1 Xq21.1 300885 COX7B, LSDMCA2 Cytochrome c oxidase, subunit VIIb COX7B 1349 ENSG00000131174 Linear skin defects with multiple congenital anomalies 2, 300887 (3), X-linked dominant Cox7b (MGI:1913392)
chrX 77910655 78050394 Xq12-q13 Xq21.1 300011 ATP7A, MNK, MK, OHS, SMAX3 ATPase, Cu++ transporting, alpha polypeptide ATP7A 538 ENSG00000165240 probably Xq13.2-q13.3, ~150kb prox. to PGK1 Menkes disease, 309400 (3), X-linked recessive; Occipital horn syndrome, 304150 (3), X-linked recessive; Spinal muscular atrophy, distal, X-linked 3, 300489 (3), X-linked recessive Atp7a (MGI:99400)
chrX 77967960 77969637 Xq13.3 Xq21.1 300567 PGAM4, PGAM3 Phosphoglycerate mutase family member 4 PGAM4 441531 ENSG00000226784
chrX 78104168 78126826 Xq13 Xq21.1 311800 PGK1, PGKA Phosphoglycerate kinase-1 PGK1 5230 ENSG00000102144 ?Xq13.3; pseudogenes PGK1P1 on Xq, PGK1P2 on chr. 6 Phosphoglycerate kinase 1 deficiency, 300653 (3), X-linked recessive Pgk1 (MGI:97555)
chrX 78129747 78139681 Xq13.1-q22.1 Xq21.1 300754 TAF9B, TAF9L, TAFII31L TAF9B RNA polymerase II, TATA box-binding protein-associated factor, 31kD TAF9B 51616 ENSG00000187325 Taf9b (MGI:3039562)
chrX 78271467 78327690 Xq13-q21 Xq21.1 300201 CYSLTR1, CYSLT1 Cysteinyl leukotriene receptor 1 CYSLTR1 10800 ENSG00000173198 Cysltr1 (MGI:1926218)
chrX 78747657 78758713 Xq13-q21.1 Xq21.1 300086 LPAR4, LPA4, P2RY9, P2Y9, GPR23 Lysophosphatidic acid receptor 4 LPAR4 2846 ENSG00000147145 Lpar4 (MGI:1925384)
chrX 78945331 78963726 Xq21.1 Xq21.1 300529 P2RY10, P2Y10 Purinergic receptor P2Y, G protein-coupled, 10 P2RY10 27334 ENSG00000078589 P2ry10 (MGI:1926076)
chrX 79170971 79172228 Xq21.1 Xq21.1 300903 GPR174, GPCR17 G protein-coupled receptor 174 GPR174 84636 ENSG00000147138 Gpr174 (MGI:2685222)
chrX 79360383 79367551 Xq13.3-q21.2 Xq21.1 300222 ITM2A, E25A Integral membrane protein 2A ITM2A 9452 ENSG00000078596 Itm2a (MGI:107706)
chrX 80014755 80031768 Xq12-q21 Xq21.1 300307 TBX22, CPX, ABERS T-box 22 TBX22 50945 ENSG00000122145 1 ABERS family identified with mutation ?Abruzzo-Erickson syndrome, 302905 (3), X-linked; Cleft palate with ankyloglossia, 303400 (3), X-linked Tbx22 (MGI:2389465)
chrX 80335438 80446884 Xq21.1 Xq21.1 300976 FAM46D Family with sequence similarity 46, member D FAM46D 169966 ENSG00000174016 Fam46d (MGI:2685223)
chrX 80669487 80809735 Xq13 Xq21.1 300553 BRWD3, MRX93 Bromodomain-and WD repeat-containing protein 3 BRWD3 254065 ENSG00000165288 Mental retardation, X-linked 93, 300659 (3), X-linked recessive Brwd3 (MGI:3029414)
chrX 81113700 81201941 Xq13 Xq21.1 300385 NSBP1 Nucleosomal binding protein 1 HMGN5 79366 ENSG00000198157
chrX 81201803 81298546 Xq13.3 Xq21.1 300190 SH3BGR SH3-binding domain glutamic acid-rich protein-like SH3BGRL 6451 ENSG00000131171 Sh3bgrl (MGI:1930849)
chrX 83508260 83509766 Xq21.1 Xq21.1 300039 POU3F4, DFN3, DFNX2 POU domain, class 3, transcription factor 4 POU3F4 5456 ENSG00000196767 Deafness, X-linked 2, 304400 (3), X-linked recessive Pou3f4 (MGI:101894)
chrX 83861125 83886699 Xq21.1 Xq21.1 300768 CYLC1 Cylicin 1 CYLC1 1538 ENSG00000183035
chrX 84058345 84187934 Xq21 Xq21.1 300303 RPS6KA6, RSK4 Ribosomal protein S6 kinase, 90kD, 6 RPS6KA6 27330 ENSG00000072133 Rps6ka6 (MGI:1914321)
chrX 84317873 84502577 Xq21.1 Xq21.1 300994 HDX, CXorf43 Highly divergent homeobox HDX 139324 ENSG00000165259 Hdx (MGI:2685226)
chrX 85003851 85093316 Xq21.2 Xq21.1 300955 APOOL, FAM121A, Cxorf33 Apolipoprotein O-like APOOL 139322 ENSG00000155008 Apool (MGI:1915367)
chrX 85243819 85273361 Xq21.1-q21.3 Xq21.1 314990 ZNF711, ZNF6, CMPX1, MRX97 Zinc finger protein-711 ZNF711 7552 ENSG00000147180 Mental retardation, X-linked 97, 300803 (3), X-linked Zfp711 (MGI:3045342)
chrX 85277388 85379742 Xq21 Xq21.1 300603 FLJ22792, POF1B, POF2B FLJ22792 gene POF1B 79983 ENSG00000124429 mutation identified in 1 POF2B family ?Premature ovarian failure 2B, 300604 (3), X-linked recessive Pof1b (MGI:1916943)
chrX 85861179 86047564 Xq21.2 Xq21.2 300390 CHM, TCD Rab escort protein 1 CHM 1121 ENSG00000188419 Choroideremia, 303100 (3), X-linked dominant Chm (MGI:892979)
chrX 86148450 86832601 Xq21.3 Xq21.2 300608 DACH2 Dachshund, Drosophila, homolog of, 2 DACH2 117154 ENSG00000126733 Dach2 (MGI:1890446)
chrX 87000000 99100000 Xq21.3 300756 AD16 Alzheimer disease 16 100271718 associated with rs5984894 {Alzheimer disease 16}, 300756 (2)
chrX 87517711 87670049 Xq21.3 Xq21.31 300348 KLHL4 Kelch-like 4 KLHL4 56062 ENSG00000102271 Klhl4 (MGI:2442829)
chrX 89921940 89922882 Xp21.3 Xq21.31 300411 TGIF2LX, TGIFLX Transforming growth factor-beta-induced factor 2-like, X-linked TGIF2LX 90316 ENSG00000153779 Tgif2lx2,Tgif2lx1 (MGI:3800824,MGI:2387796)
chrX 91434597 91438583 Xq21.3 Xq21.31 300407 PABPC5, PABP5 Polyadenylate-binding protein, cytoplasmic, 5 PABPC5 140886 ENSG00000174740 Pabpc5 (MGI:2136401)
chrX 91779309 92623229 Xq21.3 Xq21.31 300246 PCDH11X, PCDH11, PCDHX Protocadherin 11, X-linked PCDH11X 27328 ENSG00000102290 Pcdh11x (MGI:2442849)
chrX 93670925 93673682 Xq21.3-q22 Xq21.32 300117 NAP1L3 Nucleosome assembly protein 1-like 3 NAP1L3 4675 ENSG00000186310 Nap1l3 (MGI:1859565)
chrX 94300000 117400000 Xq21.33-q23 300861 MRXSCS Mental retardation, X-linked, syndromic, Chudley-Schwartz type 100820761 max lod at DXS1120 Mental retardation, X-linked, syndromic, Chudley-Schwartz type, 300861 (2), X-linked recessive
chrX 96684662 97600597 Xq22 Xq21.33 300108 DIAPH2, DIA, POF2A Diaphanous, Drosophila, homolog of, 2 DIAPH2 1730 ENSG00000147202 mutation identified in 1 POF2A family ?Premature ovarian failure 2A, 300511 (3), X-linked dominant
chrX 96883907 96885466 Xq21.33 Xq21.33 300767 RPA4 Replication protein A4 RPA4 29935 ENSG00000204086
chrX 97528363 97564534 Xq21-q22 Xq21.33 300347 EPAG Early lymphoid activation gene DIAPH2-AS1 10824
chrX 99100000 156040895 Xq22-q28 301201 AI1E2, AIH3 Amelogenesis imperfecta, hypomaturation or hypoplastic type, X-linked 2 AIH3 201 ?Amelogenesis imperfecta, type IE, X-linked 2, 301201 (2), X-linked
chrX 100291643 100410272 Xq22 Xq22.1 300460 PCDH19, KIAA1313, EFMR, EIEE9 Protocadherin 19 PCDH19 57526 ENSG00000165194 Epileptic encephalopathy, early infantile, 9, 300088 (3), X-linked Pcdh19 (MGI:2685563)
chrX 100584792 100599884 Xq22 Xq22.1 300459 TNMD, TEM, CHM1L Tenomodulin TNMD 64102 ENSG00000000005 Tnmd (MGI:1929885)
chrX 100627107 100637103 Xq22 Xq22.1 300191 TSPAN6, TM4SF6 Tetraspanin 6 TSPAN6 7105 ENSG00000000003 Tspan6 (MGI:1926264)
chrX 100644165 100671298 Xq21.33-q23 Xq22.1 300642 SRPX2, SRPUL, RESDX SUSHI repeat-containing protein, X-linked, 2 SRPX2 27286 ENSG00000102359 mutation identified in 1 RESDX family ?Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (3) Srpx2 (MGI:1916042)
chrX 100671963 100732147 Xq21.33 Xq22.1 300723 SYTL4 Synaptotagmin-like 4 SYTL4 94121 ENSG00000102362 Sytl4 (MGI:1351606)
chrX 100820358 100843533 Xq22.1 Xq22.1 300907 CSTF64 Cleavage stimulation factor, 3-prime pre-RNA, subunit 2, 64kD CSTF2 1478 ENSG00000101811 Cstf2 (MGI:1343054)
chrX 100843323 100874344 Xq22 Xq22.1 300225 NOX1, MOX1, NOH1 NADPH oxidase 1 NOX1 27035 ENSG00000007952 Nox1 (MGI:2450016)
chrX 100886918 100957400 Xq22.1 Xq22.1 300684 XKRX, XPLAC, XKR2, XRG2 X Kell blood group precursor-related, X-linked XKRX 402415 ENSG00000182489 Xkrx (MGI:3584011)
chrX 101098158 101181846 Xq22 Xq22.1 300065 FSHPRH1, LRPR1 FSH primary response, rat, homolog of, 1 CENPI 2491 ENSG00000102384 Cenpi (MGI:2147897)
chrX 101219785 101264496 Xq22 Xq22.1 300052 DRP2 Dystrophin-related protein 2 DRP2 1821 ENSG00000102385 Drp2 (MGI:107432)
chrX 101268252 101293070 Chr.X Xq22.1 300314 TAF7L, TAF2Q TAF7-like RNA polymerase II, TATA box-binding protein-associated factor, 50kD TAF7L 54457 ENSG00000102387 Taf7l (MGI:1921719)
chrX 101345655 101348968 Xq22 Xq22.1 300356 TIMM8A, DFN1, DDP, MTS, DDP1 Translocase of inner mitochondrial membrane 8, yeast, homolog of, A TIMM8A 1678 ENSG00000126953 Mohr-Tranebjaerg syndrome, 304700 (3), X-linked recessive Timm8a1 (MGI:1353433)
chrX 101349446 101390795 Xq21.3-q22 Xq22.1 300300 BTK, AGMX1, IMD1, XLA, AT Bruton agammaglobulinemia tyrosine kinase BTK 695 ENSG00000010671 Agammaglobulinemia and isolated hormone deficiency, 307200 (3), X-linked recessive; Agammaglobulinemia, X-linked 1, 300755 (3), X-linked recessive Btk (MGI:88216)
chrX 101390889 101396153 Xq22.1 Xq22.1 300902 RPL36A, RPL44 Ribosomal protein L36A RPL36A 6173 ENSG00000241343
chrX 101397790 101408012 Xq22 Xq22.1 300644 GLA Galactosidase, alpha GLA 2717 ENSG00000102393 Fabry disease, 301500 (3), X-linked; Fabry disease, cardiac variant, 301500 (3), X-linked Gla (MGI:1347344)
chrX 101408132 101414139 Xq22 Xq22.1 300610 HNRNPH2, NRPH2, MRXSB Heterogeneous nuclear ribonucleoprotein H2 HNRNPH2 3188 ENSG00000126945 second signal at 6q25.3-q26, pseudogene? Mental retardation, X-linked, syndromic, Bain type, 300986 (3), X-linked dominant Hnrnph2 (MGI:1201779)
chrX 101550530 101554699 Xq21.33-q22.2 Xq22.1 300362 ARMCX1, ALEX1 Armadillo repeat containing, X-linked 1 ARMCX1 51309 ENSG00000126947 Armcx1 (MGI:1925498)
chrX 101623129 101631909 Xq21.33-q22.2 Xq22.1 300364 ARMCX3, ALEX3 Armadillo repeat containing, X-linked 3 ARMCX3 51566 ENSG00000102401 Armcx3 (MGI:1918953)
chrX 101655280 101659890 Xq21.33-q22.2 Xq22.1 300363 ARMCX2, ALEX2, KIAA0512 Armadillo repeat containing, X-linked 2 ARMCX2 9823 ENSG00000184867 Armcx2 (MGI:1914666)
chrX 101832111 101857576 Xq22.1 Xq22.1 300319 NXF5 Nuclear RNA export factor 5 NXF5 55998 ENSG00000126952
chrX 101882287 101932134 Xq22.1 Xq22.1 301007 ZMAT1, KIAA1789 Zinc finger, matrin-type 1 ZMAT1 84460 ENSG00000166432 Zmat1 (MGI:2442284)
chrX 102153706 102156013 Xq22.1 Xq22.1 300693 BEX5, NGFRAP1L1 BEX family member 5 BEX5 340542 ENSG00000184515
chrX 102247099 102326719 Chr.X Xq22.1 300315 NXF2 Nuclear RNA export factor 2 NXF2 56001 ENSG00000269405 Nxf2 (MGI:1933192)
chrX 102513681 102516770 Xq22.1 Xq22.1 300939 TMSB15A, TMSB15, TMSNB Thymosin, beta-15A TMSB15A 11013 ENSG00000158164
chrX 102549964 102571692 Xq22.1-q22.3 Xq22.1 300318 NXF4 Nuclear RNA export factor 4 NXF4 55999
chrX 102651365 102659082 Xq22 Xq22.1 300417 GPRASP1, GASP, KIAA0443 G protein-coupled receptor-associated sorting protein 1 GPRASP1 9737 ENSG00000198932 conflicting assignment to chr.9 Gprasp1 (MGI:1917418)
chrX 102712175 102717732 Xq22.1 Xq22.1 300969 GPRASP2, GASP2 G protein-coupled receptor-associated sorting protein 2 GPRASP2 114928 ENSG00000158301
chrX 102720713 102752440 Xq22.1 Xq22.1 300921 BHLHB9, P60TRP, KIAA1701 Basic helix-loop-helix domain-containing protein, class B, 9 BHLHB9 80823 ENSG00000198908 Bhlhb9 (MGI:1917487)
chrX 102937271 102938299 Xq22.2 Xq22.1 300405 RAB40AL, RLGP, MRXSMP Ras-associated protein, RAB40A-like RAB40AL 282808 ENSG00000102128
chrX 103062652 103064239 Xq22.1-q22.2 Xq22.1 300690 BEX1 Brain-expressed X-linked gene 1 BEX1 55859 ENSG00000133169 Bex2 (MGI:1338017)
chrX 103075820 103093093 Xq21.3-q22.3 Xq22.1 300316 NXF3 Nuclear RNA export factor 3 NXF3 56000 ENSG00000147206 Nxf3 (MGI:2685230)
chrX 103215091 103217199 Xq22.2 Xq22.1 300692 BEX4 BEX family member 4 BEX4 56271 ENSG00000102409 Bex4 (MGI:3606746)
chrX 103300000 138900000 Xq22.2-q26 300324 MRX53 Mental retardation, X-linked-53 MRX53 4416 Mental retardation, X-linked 53, 300324 (2), X-linked recessive
chrX 103309345 103311045 Xq22 Xq22.2 300691 BEX2 Brain-expressed X-linked gene 2 BEX2 84707 ENSG00000133134
chrX 103330185 103332325 Xq22.1-q22.3 Xq22.2 300771 TCEAL7 Transcription elongation factor A-like 7 TCEAL7 56849 ENSG00000182916 Tceal7 (MGI:1915746)
chrX 103376322 103378163 Xq22.1-q23 Xq22.2 300361 NGFRAP1, BEX3, NADE, DXS6984E Nerve growth factor receptor (TNFRSF16) associated protein 1 BEX3 27018 ENSG00000166681 Bex3 (MGI:1338016)
chrX 103628719 103630952 Xq22.1 Xq22.2 300237 TCEAL1, P21, SIIR Transcription elongation factor A-like 1 TCEAL1 9338 ENSG00000172465 Tceal1 (MGI:2385317)
chrX 103675497 103688157 Xq22 Xq22.2 300409 MORFL2, MRGX, KIAA0026 Mortality factor 4-like 2 MORF4L2 9643 ENSG00000123562 Morf4l2 (MGI:1927167)
chrX 103776323 103832281 Xq22.1-q22.3 Xq22.2 300285 RAB9B, RAB9L RAS-associated protein RAB9B RAB9B 51209 ENSG00000123570 Rab9b (MGI:2442454)
chrX 103776505 103792618 Xq22 Xq22.2 300401 PLP1, PMD, HLD1, SPG2 Proteolipid protein 1 PLP1 5354 ENSG00000123560 Pelizaeus-Merzbacher disease, 312080 (3), X-linked recessive; Spastic paraplegia 2, X-linked, 312920 (3), X-linked recessive Plp1 (MGI:97623)
chrX 103918895 103974425 Xq22.2 Xq22.2 301011 TMSB15B Thymosin, beta-15B TMSB15B 286527 ENSG00000158427 opposite strand relative to TMSB15A
chrX 104011146 104013686 Xq22.2 Xq22.2 300507 H2BFWT H2B histone family, member W, testis-specific H2BFWT 158983 ENSG00000123569
chrX 104099213 104157026 Xq22.2 Xq22.2 300941 SLC25A53 Solute carrier family 25, member 53 SLC25A53 401612 ENSG00000269743 Slc25a53 (MGI:1914312)
chrX 104250037 104254917 Xq22.1-q22.3 Xq22.2 300154 ESX1L, ESXR1 ESX1-like protein ESX1 80712 ENSG00000123576
chrX 104500000 109400000 Xq22.3 300194 AMMEC, DELXq22.3, CXDELq22.3 Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex) contiguous gene deletion syndrome Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis, 300194 (4)
chrX 104500000 109400000 Xq22.3 300581 FGS5 FG syndrome 5 FGS5 780900 FG syndrome 5, 300581 (2)
chrX 104566314 105769728 Xq22 Xq22.3 300277 IL1RAPL2 Interleukin 1 receptor accessory protein-like 2 IL1RAPL2 26280 ENSG00000189108 Il1rapl2 (MGI:1913106)
chrX 105218928 105220692 Chr.X Xq22.3 300312 TEX13A Testis-expressed gene 13A TEX13A 56157 ENSG00000268629 Tex13a (MGI:1915194)
chrX 105821941 105958609 Xq22.3 Xq22.3 300791 NRK, NESK NIK-related kinase NRK 203447 ENSG00000123572 Nrk (MGI:1351326)
chrX 106032438 106038726 Xq22.2 Xq22.3 314200 TBG, TBGQTL Thyroxine-binding globulin SERPINA7 6906 ENSG00000123561 [Thyroxine-binding globulin QTL], 300932 (3) Serpina7 (MGI:3041197)
chrX 106693837 106797015 Xq22.3 Xq22.3 300439 RNF128, GRAIL Ring finger protein 128 RNF128 79589 ENSG00000133135 Rnf128 (MGI:1914139)
chrX 106900062 106903330 Xq22.3 Xq22.3 300575 RIPPLY1 Ripply1, zebrafish, homolog of RIPPLY1 92129 ENSG00000147223
chrX 106900163 106930860 Xq22.3-q23 Xq22.3 300520 CLDN2 Claudin 2 CLDN2 9075 ENSG00000165376 Cldn2 (MGI:1276110)
chrX 106940299 107000243 Xq22.3 Xq22.3 300970 MORC4, ZCW4, ZCWCC2 MORC family CW-type zinc finger protein 4 MORC4 79710 ENSG00000133131 Morc4 (MGI:1922996)
chrX 107206628 107244242 Xq22.3 Xq22.3 300933 PIH1D3, CILD36 PIH1 domain-containing protein 3 PIH1D3 139212 ENSG00000080572 Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive Pih1h3b,Pih1d3 (MGI:3607720,MGI:1921958)
chrX 107272463 107276558 Xq22-q23 Xq22.3 310310 MYCL2 MYCL-related processed gene MYCLP1 4611 pseudogene on Xq27.3
chrX 107522449 107605263 Xq22.3 Xq22.3 301005 FRMPD3, KIAA1817 FERM- and PDZ domain-containing protein 3 FRMPD3 84443 ENSG00000147234
chrX 107628423 107651025 Xq22-q24 Xq22.3 311850 PRPS1, CMTX5, DFNX1, DFN2 Phosphoribosyl pyrophosphate synthetase-1 PRPS1 5631 ENSG00000147224 Arts syndrome, 301835 (3), X-linked recessive; Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3), X-linked recessive; Deafness, X-linked 1, 304500 (3), X-linked; Gout, PRPS-related, 300661 (3), X-linked recessive; Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3), X-linked recessive Prps1 (MGI:97775)
chrX 107713220 107777328 Xq22.2 Xq22.3 300506 TSC22D3, DSIPI, GILZ TSC22 domain family, member 3 TSC22D3 1831 ENSG00000157514 Tsc22d3 (MGI:1196284)
chrX 107820452 107931636 Xq22 Xq22.3 300204 MID2, MRX101 Midline 2 MID2 11043 ENSG00000080561 mutation identified in 1 MRX101 family ?Mental retardation, X-linked 101, 300928 (3), X-linked recessive Mid2 (MGI:1344333)
chrX 107980863 107982369 Chr.X Xq22.3 300313 TEX13B Testis-expressed gene 13B TEX13B 56156 ENSG00000170925 Tex13b (MGI:1890544)
chrX 108018885 108079183 Xq22.1-q22.3 Xq22.3 300620 VSIG1, GPA34 V-set and immunoglobulin domains-containing protein 1 VSIG1 340547 ENSG00000101842 Vsig1 (MGI:1926039)
chrX 108084204 108091643 Xq22.3 Xq22.3 300880 PSMD10, p28 Proteasome 26S subunit, non-ATPase, 10 PSMD10 5716 ENSG00000101843 Psmd10 (MGI:1858898)
chrX 108091666 108154670 Xq22 Xq22.3 300663 ATG4A, APG4A, AUTL2 Autophagy 4, S. cerevisiae, homolog of, A ATG4A 115201 ENSG00000101844 Atg4a (MGI:2147903)
chrX 108155606 108439496 Xq22.3 Xq22.3 303631 COL4A6, DELXq22.3, CXDELq22.3, DFNX6 Collagen IV, alpha-6 polypeptide COL4A6 1288 ENSG00000197565 mutation identified in 1 DFNX6 family ?Deafness, X-linked 6, 300914 (3), X-linked recessive Col4a6 (MGI:2152695)
chrX 108439843 108697544 Xq22.3 Xq22.3 303630 COL4A5, ATS, ASLN Collagen IV, alpha-5 polypeptide COL4A5 1287 ENSG00000188153 diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6 Alport syndrome, 301050 (3), X-linked dominant Col4a5 (MGI:88456)
chrX 108719948 108736583 Xq22.3 Xq22.3 300904 IRS4 Insulin receptor substrate 4 IRS4 8471 ENSG00000133124
chrX 109372060 109482055 Xq22 Xq22-q23 300041 GUCY2F, GUC2F Guanylate cyclase 2F GUCY2F 2986 ENSG00000101890 Gucy2f (MGI:105119)
chrX 109400000 138900000 Xq23-q26 300464 CHDS3 Coronary heart disease, susceptibility to, 3 387573 {Coronary heart disease, susceptibility to, 3}, 300464 (2)
chrX 109400000 117400000 Xq23 300711 IHPS4 Pyloric stenosis, infantile hypertrophic, 4 100188772 max lod at rs3027802 Pyloric stenosis, infantile hypertrophic, 4, 300711 (2)
chrX 109400000 121800000 Xq23-q24 300046 MRX23 Mental retardation, X-linked-23 MRX23 4387 other MRX in same region MRX27, MRX30, MRX35, MRX47, MRX80 Mental retardation, X-linked 23, 300046 (2), X-linked
chrX 109400000 143000000 Xq23-q27.2 300613 MYP13 Myopia 13 MYP13 677764 between DXS1210 and DXS1227 Myopia 13, 300613 (2)
chrX 109535780 109544697 Xq23 Xq23 300320 NXT2 NTF2-related export protein 2 NXT2 55916 ENSG00000101888 Nxt2 (MGI:2147914)
chrX 109623699 109625167 Xq22.3 Xq23 300328 KCNE1L Potassium voltage-gated channel, Isk-related family, member 1-like KCNE5 23630 ENSG00000176076 Kcne1l (MGI:1913490)
chrX 109641329 109733402 Xq22.3 Xq23 300157 ACSL4, FACL4, ACS4, MRX63 Acyl-CoA synthetase long-chain family member 4 ACSL4 2182 ENSG00000068366 Mental retardation, X-linked 63, 300387 (3), X-linked dominant Acsl4 (MGI:1354713)
chrX 110194185 110440232 Xq22.3 Xq23 300195 AMMECR1, MFHIEN Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis chromosomal region gene 1 AMMECR1 9949 ENSG00000101935 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 (3), X-linked recessive Ammecr1 (MGI:1860206)
chrX 110358100 110456333 Xq23 Xq23 300965 RGAG1, MAR9, KIAA1318 Retrotransposon GAG domain-containing protein 1 RTL9 57529 ENSG00000243978 Rtl9 (MGI:2685231)
chrX 110673855 110796057 Xq22.1-q23 Xq23 300350 CHRDL1, VOPT, MGC1 Chordin-like 1 CHRDL1 91851 ENSG00000101938 Megalocornea 1, X-linked, 309300 (3), X-linked recessive Chrdl1 (MGI:1933172)
chrX 110944240 111227360 Xq23 Xq23 300142 PAK3, MRX30, MRX47 p21-activated kinase-3 PAK3 5063 ENSG00000077264 Mental retardation, X-linked 30/47, 300558 (3), X-linked recessive Pak3 (MGI:1339656)
chrX 111245098 111270545 Xq23 Xq23 300146 CAPN6 Calpain 6 CAPN6 827 ENSG00000077274 Capn6 (MGI:1100850)
chrX 111293778 111412231 Xq22.3-q23 Xq23 300121 DCX, DBCN, LISX Doublecortin DCX 1641 ENSG00000077279 Lissencephaly, X-linked, 300067 (3), X-linked; Subcortical laminal heterotopia, X-linked, 300067 (3), X-linked Dcx (MGI:1277171)
chrX 111680740 111764163 Xq23 Xq23 300776 ALG13, GLT28D1, CDG1S, EIEE36 Alg13, S. cerevisiae, homolog of ALG13 79868 ENSG00000101901 mutation identified in 1 CDG1S male patient ?Congenital disorder of glycosylation, type Is, 300884 (3), X-linked dominant; Epileptic encephalopathy, early infantile, 36, 300884 (3), X-linked dominant
chrX 111774313 112082942 Xq23 Xq23 300334 TRPC5, TRP5 Transient receptor potential channel 5 TRPC5 7224 ENSG00000072315 Trpc5 (MGI:109524)
chrX 112630650 112680177 Xq23 Xq23 300566 LHFPL1 LHFP-like protein 1 LHFPL1 340596 ENSG00000182508 Lhfpl1 (MGI:1891214)
chrX 112774876 112840945 Chr.X Xq23 300410 AMOT, KIAA1071 Angiomotin AMOT 154796 ENSG00000126016 Amot (MGI:108440)
chrX 113616299 113618152 Xq23 Xq23 300901 XACT Active X chromosome-coating transcript, noncoding XACT 105463123
chrX 114584077 114910060 Xq24 Xq23 312861 HTR2C 5-hydroxytryptamine (serotonin) receptor-2C HTR2C 3358 ENSG00000147246 formerly HTR1C Htr2c (MGI:96281)
chrX 114823453 114823563 Xq23 Xq23 300686 MIR448, MIRN448 Micro RNA 448 MIR448 554212
chrX 115003974 115017643 Xq24 Xq23 300130 IL13RA2 Interleukin-13 receptor, alpha-2 IL13RA2 3598 ENSG00000123496 Il13ra2 (MGI:1277954)
chrX 115289716 115307555 Xq23 Xq23 300616 LUZP4 Leucine zipper protein 4 LUZP4 51213 ENSG00000102021
chrX 115560849 115650860 Xq23 Xq23 300131 PLS3, BMND18 Plastin 3 PLS3 5358 ENSG00000102024 Bone mineral density QTL18, osteoporosis, 300910 (3), X-linked dominant Pls3 (MGI:104807)
chrX 115840395 115969110 Xq23 Xq23 301004 DANT2 DXZ4-associated noncoding transcript 2, distal DANT2 642776
chrX 115840963 115905526 Xq23 Xq23 301001 DANT1 DXZ4-associated noncoding transcript 1, proximal DANT1 106029310
chrX 116170704 116174971 Xq23 Xq23 300034 AGTR2 Angiotensin receptor 2 AGTR2 186 ENSG00000180772 Agtr2 (MGI:87966)
chrX 116436578 116461457 Xq23-q24 Xq23 300444 SLC6A14, OBX, BMIQ11 Solute carrier family 6 (neurotransmitter transporter), member 14 SLC6A14 11254 ENSG00000268104 {Obesity, susceptibility to, BMIQ11}, 300306 (3) Slc6a14 (MGI:1890216)
chrX 116461685 116463032 Xq22 Xq23 300625 KKLC1, CXorf61 Kita-Kyushu lung cancer antigen 1 CT83 203413 ENSG00000204019
chrX 117400000 138900000 Xq24-q26 300700 ADFN, ALDS Albinism-deafness syndrome ADFN 122 ~8cM proximal to F9 Albinism-deafness syndrome, 300700 (2), X-linked
chrX 117400000 148000000 Xq24-q27 301845 BZX Bazex syndrome 8255 Bazex syndrome, 301845 (2), X-linked dominant
chrX 117400000 156040895 Xq24-qter 304730 CND Corneal dermoids 8231 Dermoids of cornea, 304730 (2), X-linked
chrX 117400000 121800000 Xq24 300360 MRSS Mental retardation, X-linked, with short stature Mental retardation, X-linked, with short stature, 300360 (2)
chrX 117400000 129500000 Xq24-q25 300518 MRX82 Mental retardation, X-linked 82 MRX82 378484 between DXS6805 and DXS7346 Mental retardation, X-linked 82, 300518 (2), X-linked recessive
chrX 117400000 121800000 Xq24 300852 MRX88 Mental retardation, X-linked 88 105463129 Mental retardation, X-linked 88, 300852 (2), X-linked
chrX 117400000 141200000 Xq24-q27.1 300245 PTOS2, PTOSX Ptosis, hereditary congenital 2 54115 Ptosis, hereditary congenital 2, 300245 (2), X-linked dominant
chrX 117400000 129500000 Xq24-q25 300378 RRDX Radial ray deficiency 266719 Radial ray deficiency, 300378 (2)
chrX 117400000 129500000 Xq24-q25 300750 SPG34 Spastic paraplegia 34, X-linked SPG34 724110 max lod at DXS8057 Spastic paraplegia 34, X-linked, 300750 (2), X-linked recessive
chrX 117400000 129500000 Xq24-q25 300591 STQTL6 Stature quantitative trait locus 6 100037264 max lod at DXS8067 {Stature QTL 6}, 300591 (2)
chrX 117897812 118117339 Xq24 Xq24 300655 KLHL13, KIAA1309 Kelch-like 13 KLHL13 90293 ENSG00000003096 Klhl13 (MGI:1914705)
chrX 118495663 118686159 Xq24 Xq24 300681 DOCK11, ACG, ZIZ2 Dedicator of cytokinesis 11 DOCK11 139818 ENSG00000147251 Dock11 (MGI:1923224)
chrX 118726953 118794532 Chr.X Xq24 300119 IL13RA1 Interleukin-13 receptor, alpha-1 IL13RA1 3597 ENSG00000131724 Il13ra1 (MGI:105052)
chrX 118823742 118826972 Xq24 Xq24 300701 ZCCHC12, SIZN1 Zinc finger CCHC domain-containing protein 12 ZCCHC12 170261 ENSG00000174460 Zcchc12 (MGI:1919943)
chrX 119078634 119151082 Xq24 Xq24 300995 KIAA1210 Kiaa1210 gene KIAA1210 57481 ENSG00000250423
chrX 119236244 119244465 Xq22-q24 Xq24 300435 PGRMC1 Progesterone receptor membrane component 1 PGRMC1 10857 ENSG00000101856 Pgrmc1 (MGI:1858305)
chrX 119399294 119454477 Xq24 Xq24 300641 SLC25A43 Solute carrier family 25, member 43 SLC25A43 203427 ENSG00000077713 Slc25a43 (MGI:2684854)
chrX 119468399 119471395 Xq24-q26 Xq24 300150 SLC25A5, ANT2, T3 Solute carrier family 25 (mitochondrial carrier), member 5 (adenine nucleotide translocator-2, fibroblast) SLC25A5 292 ENSG00000005022 Slc25a5 (MGI:1353496)
chrX 119574466 119584428 Xq24 Xq24 312180 UBE2A, RAD6A, MRXSN, MRXS30 Ubiquitin-conjugating enzyme E2A (RAD6 homolog) UBE2A 7319 ENSG00000077721 Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3), X-linked recessive Ube2a (MGI:102959)
chrX 119588336 119606463 Xq24 Xq24 300440 NKRF, NRF NFKB-repressing factor NKRF 55922 ENSG00000186416 Nkrf (MGI:1924536)
chrX 119615723 119693369 Xq24 Xq24 300683 SEPT6, SEP2, KIAA0128 Septin 6 SEPT6 23157 ENSG00000125354 Sept6 (MGI:1888939)
chrX 119786503 119791658 Xq24 Xq24 300899 RPL39 Ribosomal protein L39 RPL39 6170 ENSG00000198918 Rpl39 (MGI:1914498)
chrX 119805310 119853027 Xq25-q26 Xq24 300298 UPF3B, RENT3B, MRXS14 UPF3 regulator of nonsense transcripts, yeast, homolog of, B UPF3B 65109 ENSG00000125351 Mental retardation, X-linked, syndromic 14, 300676 (3), X-linked recessive Upf3b (MGI:1915384)
chrX 119870531 119871827 Xq24 Xq24 300951 RNF113A, ZNF183, TTD5 RING finger protein 113A RNF113A 7737 ENSG00000125352 mutation identified in 1 TTD5 family ?Trichothiodystrophy 5, nonphotosensitive, 300953 (3), X-linked dominant Rnf113a2 (MGI:1913631)
chrX 119871770 119876665 Xq24 Xq24 300078 NDUFA1, MWFE NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kD NDUFA1 4694 ENSG00000125356 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial Ndufa1 (MGI:1929511)
chrX 119895972 119920715 Xq24 Xq24 300462 AKAP14, AKAP28 A-kinase anchor protein 14 AKAP14 158798 ENSG00000186471 Akap14 (MGI:3618288)
chrX 119925049 119943771 Xq24 Xq24 300766 NKAP NFKB-activating protein NKAP 79576 ENSG00000101882 Nkap (MGI:1914300)
chrX 120010716 120015550 Xq24 Xq24 300973 RHOXF1P1 RHOX homeobox family member 1, pseudogene 1 RHOXF1P1 101928941
chrX 120109048 120117650 Xq24 Xq24 300446 RHOXF1, OTEX, PEPP1 RHOX homeobox family, member 1 RHOXF1 158800 ENSG00000101883
chrX 120158534 120165625 Xq24 Xq24 300447 RHOXF2, PEPP2 RHOX homeobox family, member 2 RHOXF2 84528 ENSG00000131721
chrX 120250751 120258395 Xq23 Xq24 300329 ZBTB33, KAISO Zinc finger- and BTB domain-containing protein 33 ZBTB33 10009 ENSG00000177485 Zbtb33 (MGI:1927290)
chrX 120426147 120469348 Xq24 Xq24 309060 LAMP2, LAMPB, LGP110 Lysosome-associated membrane protein-2 LAMP2 3920 ENSG00000005893 Danon disease, 300257 (3), X-linked dominant Lamp2 (MGI:96748)
chrX 120524588 120575828 Xq23 Xq24 300304 CUL4B, MRXSC, MRXHF2, SFM2, MRXS15 Cullin-4B CUL4B 8450 ENSG00000158290 Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3), X-linked recessive Cul4b (MGI:1919834)
chrX 120603888 120621158 Xq22-q24 Xq24 300587 MCTS1, MCT1 Malignant T-cell amplified sequence 1 MCTS1 28985 ENSG00000232119 Mcts1 (MGI:1916245)
chrX 120625673 120630149 Xq23 Xq24 300611 C1GALT1C1, COSMC, C1GALT2, TNPS C1GALT1-specific chaperone 1 C1GALT1C1 29071 ENSG00000171155 Tn polyagglutination syndrome, somatic, 300622 (3) C1galt1c1 (MGI:1913493)
chrX 120872551 120875924 Xq24 Xq24 300790 CT47B1, CT47A13 Cancer/testis antigen family 47, member B1 CT47B1 643311 ENSG00000236446
chrX 120933839 120937259 Xq24 Xq24 300592 CT47A11, LOC255313 Cancer/testis antigen family 47, member A11 CT47A11 255313 ENSG00000226929
chrX 120938700 120942120 Xq24 Xq24 300789 CT47A10 Cancer/testis antigen family 47, member A10 CT47A10 728036 ENSG00000224089
chrX 120943560 120946980 Xq24 Xq24 300788 CT47A9 Cancer/testis antigen family 47, member A9 CT47A9 728042 ENSG00000226600
chrX 120948421 120951841 Xq24 Xq24 300787 CT47A8 Cancer/testis antigen family 47, member A8 CT47A8 728049 ENSG00000230347
chrX 120953281 120956599 Xq24 Xq24 300786 CT47A7 Cancer/testis antigen family 47, member A7 CT47A7 653282 ENSG00000228517
chrX 120958164 120961587 Xq24 Xq24 300785 CT47A6 Cancer/testis antigen family 47, member A6 CT47A6 728062 ENSG00000226023
chrX 120963025 120966445 Xq24 Xq24 300784 CT47A5 Cancer/testis antigen family 47, member A5 CT47A5 728072 ENSG00000237957
chrX 120967885 120971305 Xq24 Xq24 300783 CT47A4 Cancer/testis antigen family 47, member A4 CT47A4 728075 ENSG00000230594
chrX 120972745 120976165 Xq24 Xq24 300782 CT47A3 Cancer/testis antigen family 47, member A3 CT47A3 728082 ENSG00000236126
chrX 120977605 120981025 Xq24 Xq24 300781 CT47A2 Cancer/testis antigen family 47, member A2 CT47A2 728090 ENSG00000242362
chrX 120982465 120985885 Xq24 Xq24 300780 CT47A1 Cancer/testis antigen family 45, member A1 CT47A1 728096 ENSG00000236371
chrX 121047607 121049941 Xq25 Xq24 300144 GLUD2 Glutamate dehydrogenase-2 GLUD2 2747 ENSG00000182890 {Parkinson disease, age of onset, modifier}, 168600 (3), Isolated cases, Multifactorial
chrX 121800000 129500000 Xq25 300979 DUPXq25 Xq25 duplication syndrome Xq25 duplication syndrome, 300979 (4), X-linked
chrX 121800000 148000000 Xq25-q27 300660 LKMCD Leukoencephalopathy with metaphyseal chondrodysplasia 100302058 between DXS8093 and DXS1232 Leukoencephalopathy with metaphyseal chondrodysplasia, 300660 (2), X-linked recessive
chrX 121800000 141200000 Xq25-q27.1 300703 SCAX5 Spinocerebellar ataxia, X-linked 5 100188768 between DXS1047 and DXS1227 Spinocerebellar ataxia, X-linked 5, 300703 (2), X-linked recessive
chrX 121800000 138900000 Xq25-q26 300179 SXI2 X inactivation, familial skewed, 2 117237 X inactivation, familial skewed, 2, 300179 (2)
chrX 121800000 131300000 Xq25-q26.1 313850 THAS, TAS Thoracoabdominal syndrome THAS 7055 Thoracoabdominal syndrome, 313850 (2), X-linked
chrX 121800000 129500000 Xq25 300779 XECD Corneal dystrophy, endothelial, X-linked 100302510 between DXS8057 and DXS1047 Corneal dystrophy, endothelial, X-linked, 300779 (2), X-linked dominant
chrX 123184242 123490914 Xq25-q26 Xq25 305915 GRIA3, GLUR3, MRX94 Glutamate receptor, ionotropic, AMPA 3 GRIA3 2892 ENSG00000125675 Mental retardation, X-linked 94, 300699 (3), X-linked recessive Gria3 (MGI:95810)
chrX 123600560 123733053 Xq25 Xq25 300395 THOC2, THO2, MRX12, MRX35 THO complex 2 (Tho2, yeast, homolog of) THOC2 57187 ENSG00000125676 Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive Thoc2 (MGI:2442413)
chrX 123859811 123913978 Xq25 Xq25 300079 XIAP, BIRC4, API3, XLP2 Inhibitor of apoptosis, X-linked XIAP 331 ENSG00000101966 Lymphoproliferative syndrome, X-linked, 2, 300635 (3), X-linked recessive Xiap (MGI:107572)
chrX 123960559 124102655 Xq25 Xq25 300826 STAG2, SA2 Stromal antigen 2 STAG2 10735 ENSG00000101972 Stag2 (MGI:1098583)
chrX 124346281 124373159 Xq25 Xq25 300490 SH2D1A, LYP, IMD5, XLP, XLPD1 SH2 domain protein 1A SH2D1A 4068 ENSG00000183918 1cM from DXS42; no recombination with DXS37 Lymphoproliferative syndrome, X-linked, 1, 308240 (3), X-linked recessive Sh2d1a (MGI:1328352)
chrX 124375902 125204380 Xq25 Xq25 300588 TENM1, ODZ1, TNM1 Teneurin transmembrane protein 1 TENM1 10178 ENSG00000009694 Tenm1 (MGI:1345185)
chrX 128050961 128052402 Xq25 Xq25 300487 ACTRT1, ARPT1 Actin-related protein T1 ACTRT1 139741 ENSG00000123165 Actrt1 (MGI:1920610)
chrX 129446500 129523563 Xq26.1 Xq25-q26 300012 SMARCA1, SNF2L1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 SMARCA1 6594 ENSG00000102038 Smarca1 (MGI:1935127)
chrX 129500000 148000000 Xq26-q27 300712 CFSS Craniofacioskeletal syndrome 100188773 ?Craniofacioskeletal syndrome, 300712 (2), X-linked recessive, X-linked dominant
chrX 129500000 138900000 Xq26 302802 CMTX3 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 CMTX3 1254 between DXS984 and DXS8106 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, 302802 (2), X-linked recessive
chrX 129500000 138900000 Xq26 309555 GUST Gustavson mental retardation syndrome (with microcephaly, optic atrophy, deafness) 8258 Gustavson syndrome, 309555 (2), X-linked
chrX 129500000 148000000 Xq26-q27 307700 HPT, HPTX, HYPX Hypoparathyroidism HPT 3258 ?mutations in SOX3 Hypoparathyroidism, X-linked, 307700 (2), X-linked
chrX 129500000 156040895 Xq26-qter 300076 INDX Immunoneurologic syndrome X-linked, of Woods, Black, and Norbury 8259 Woods-Black-Norbury syndrome, 300076 (2), X-linked dominant
chrX 129500000 138900000 Xq26 300372 MRX42 Mental retardation, X-linked nonspecific, 42 MRX42 4406 ?pericentromeric region Mental retardation, X-linked 42, 300372 (2)
chrX 129500000 148000000 Xq26-q27 300155 RP24 Retinitis pigmentosa-24 RP24 6116 Retinitis pigmentosa 24, 300155 (2)
chrX 129500000 138900000 Xq26 313350 SHFM2, SHFD2 Split hand/foot malformation, type (ectrodactyly) 2 SHFM2 6463 Split hand/foot malformation 2, 313350 (2), X-linked
chrX 129532735 129592560 Xq26.1 Xq26.1 300535 OCRL, LOCR, OCRL1, NPHL2 Phosphatidylinositol polyphosphate 5-phosphatase (OCRL gene) OCRL 4952 ENSG00000122126 Dent disease 2, 300555 (3), X-linked recessive; Lowe syndrome, 309000 (3), X-linked recessive Ocrl (MGI:109589)
chrX 129645258 129654955 Xq25-q26.3 Xq26.1 300297 APLN Apelin APLN 8862 ENSG00000171388 Apln (MGI:1353624)
chrX 129738969 129769548 Xq25 Xq26.1 300145 XPNPEP2, AEACEI X-prolyl aminopeptidase 2 (aminopeptidase P) XPNPEP2 7512 ENSG00000122121 {Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3) Xpnpep2 (MGI:2180001)
chrX 129779915 129795200 Xq26.1 Xq26.1 300441 SASH3, HACS2, CXorf9, SLY SAM and SH3 domain containing 3 SASH3 54440 ENSG00000122122 Sash3 (MGI:1921381)
chrX 129803287 129843933 Xq26.1 Xq26.1 300646 ZDHHC9, DHHC9, MRXSZ Zinc finger DHHC domain-containing protein 9 ZDHHC9 51114 ENSG00000188706 Mental retardation, X-linked syndromic, Raymond type, 300799 (3) Zdhhc9 (MGI:2444393)
chrX 129906120 129929761 Xq26.1 Xq26.1 300508 UTP14A Utp14, S. cerevisiae, homolog of, A UTP14A 10813 ENSG00000156697 Utp14a (MGI:1919804)
chrX 129980284 130058082 Xq25-q26.1 Xq26.1 300688 BCORL1 BCL6 corepressor-like 1 BCORL1 63035 ENSG00000085185 Bcorl1 (MGI:2443910)
chrX 130064919 130110712 Xq26 Xq26.1 300775 ELF4, MEF E74-like factor 4 ELF4 2000 ENSG00000102034 Elf4 (MGI:1928377)
chrX 130129361 130165886 Xq26.1 Xq26.1 300169 AIFM1, PDCD8, AIF, COXPD6, COWCK, CMTX4, DFNX5 Apoptosis-inducing factor, mitochondrion-associated, 1 AIFM1 9131 ENSG00000156709 Combined oxidative phosphorylation deficiency 6, 300816 (3), X-linked recessive; Cowchock syndrome, 310490 (3), X-linked recessive; Deafness, X-linked 5, 300614 (3), X-linked recessive
chrX 130110632 130184872 Chr.X Xq26.1 300333 RAB33A Ras-associated protein RAB33A RAB33A 9363 ENSG00000134594 Rab33a (MGI:109493)
chrX 130339887 130373360 Xq24 Xq26.1 300242 SLC25A14, BMCP1 Solute carrier family 25 (mitochondrial carrier), member 14 SLC25A14 9016 ENSG00000102078 Slc25a14 (MGI:1330823)
chrX 130384344 130385536 Xq26.1 Xq26.1 300513 GPR119, GPCR2 G protein-coupled receptor 119 GPR119 139760 ENSG00000147262 Gpr119 (MGI:2668412)
chrX 130622329 130903316 Xq25-q26.2 Xq26.1 300282 ENOX2 ECTO-NOX disulfide-thiol exchanger 2 ENOX2 10495 ENSG00000165675 Enox2 (MGI:2384799)
chrX 131058241 131089884 Xq26.1 Xq26.1 300937 ARHGAP36 Rho GTPase-activating protein 36 ARHGAP36 158763 ENSG00000147256 Arhgap36 (MGI:1922654)
chrX 131273505 131289456 Xq25 Xq26.1 300137 IGSF1, IGDC1, CHTE Immunoglobulin superfamily, member 1 IGSF1 3547 ENSG00000147255 Hypothyroidism, central, and testicular enlargement, 300888 (3), X-linked recessive Igsf1 (MGI:2147913)
chrX 131691524 131830642 Xq26.1 Xq26.2 300999 FIRRE, LINC01200 Functional intergenic repeating RNA element FIRRE 286467
chrX 132023216 132075942 Xq26 Xq26.2 300547 MASK, MST4 MST3- and SOK1-related kinase STK26 51765 ENSG00000134602 Stk26 (MGI:1917665)
chrX 132074925 132128021 Xq26.2 Xq26.2 300628 FRMD7, NYS1, XIPAN FERM domain-containing 7 FRMD7 90167 ENSG00000165694 Nystagmus 1, congenital, X-linked, 310700 (3), X-linked; Nystagmus, infantile periodic alternating, X-linked, 310700 (3), X-linked Frmd7 (MGI:2686379)
chrX 132369313 132490029 Xq26 Xq26.2 300413 MBNL3, MBXL Muscleblind-like protein 3 MBNL3 55796 ENSG00000076770 Mbnl3 (MGI:2444912)
chrX 132626009 132961394 Xq26.2 Xq26.2 300545 HS6ST2 Heparan sulfate 6-O-sulfotransferase 2 HS6ST2 90161 ENSG00000171004 Hs6st2 (MGI:1354959)
chrX 133024630 133083767 Xq26.2 Xq26.2 300309 USP26 Ubiquitin-specific protease 26 USP26 83844 ENSG00000134588 Usp26 (MGI:1933247)
chrX 133216668 133218347 Xq26.2 Xq26.2 300772 TFDP3, HCA661, CT30, DP4 Transcription factor DP family, member 3 TFDP3 51270 ENSG00000183434
chrX 133301035 133415176 Xq26 Xq26.2 300168 GPC4 Glypican 4 GPC4 2239 ENSG00000076716 centromeric to GPC3 Gpc4 (MGI:104902)
chrX 133535744 133985645 Xq26 Xq26.2 300037 GPC3, SDYS, SGBS1 Glypican 3 GPC3 2719 ENSG00000147257 Simpson-Golabi-Behmel syndrome, type 1, 312870 (3), X-linked recessive; Wilms tumor, somatic, 194070 (3) Gpc3 (MGI:104903)
chrX 134169670 134169765 Xq26.2 Xq26.2 300722 MIR19B2, MIRN19B2 Micro RNA 19B2 MIR19B2 406981
chrX 134169808 134169876 Xq26.2 Xq26.2 300950 MIR20B Micro RNA 20B MIR20B 574032
chrX 134170197 134170277 Xq26.2 Xq26.2 300792 MIR106A, MIRN106A Micro RNA 106A MIR106A 406899
chrX 134373311 134428791 Xq26.3 Xq26.2 300414 PHF6, BFLS PHD finger protein 6 PHF6 84295 ENSG00000156531 Borjeson-Forssman-Lehmann syndrome, 301900 (3), X-linked recessive Phf6 (MGI:1918248)
chrX 134460144 134500667 Xq26.2 Xq26.2-q26.3 308000 HPRT1, HPRT Hypoxanthine phosphoribosyltransferase 1 HPRT1 3251 ENSG00000165704 HPRT-related gout, 300323 (3), X-linked recessive; Lesch-Nyhan syndrome, 300322 (3), X-linked recessive Hprt (MGI:96217)
chrX 134500000 138900000 Xq26.3 300795 CT45A4, CT45.4 Cancer/testis antigen family 45, member A4
chrX 134500000 138900000 Xq26.3 300942 CXDUPq26.3, DUPXq26.3, XLAG Chromosome Xq26.3 duplication syndrome Chromosome Xq26.3 duplication syndrome, 300942 (4), X-linked dominant
chrX 134500000 138900000 Xq26.3 300833 SRXX3 46XX sex reversal 3 due to deletion/duplication/rearrangement upstream of SOX3 46XX sex reversal 3, 300833 (4), X-linked dominant
chrX 134546327 134546397 Xq26.3 Xq26.3 300865 MIR503 Micro RNA 503 MIR503 574506
chrX 134546613 134546710 Xq26.3 Xq26.3 300682 MIR424, MIRN424, MIR322 Micro RNA 424 MIR424 494336
chrX 134565837 134764321 Xq26 Xq26.3 300296 PLAC1 Placenta-specific gene 1 PLAC1 10761 ENSG00000170965 Plac1 (MGI:1926287)
chrX 134887625 134915343 Xq26.3 Xq26.3 300674 MOSPD1 Motile sperm domain-containing protein 1 MOSPD1 56180 ENSG00000101928 Mospd1 (MGI:1917630)
chrX 135032302 135033545 Xq26 Xq26.3 300213 CXX1 CAAX box protein 1 RTL8C 8933 ENSG00000134590 Rtl8c (MGI:1920115)
chrX 135248588 135344628 Xq26 Xq26.3 314997 ZNF75D, ZNF75 Zinc finger protein-75D ZNF75D 7626 ENSG00000186376 1Mb distal to HPRT
chrX 135344769 135363412 Xq26.3 Xq26.3 300627 ZNF449, ZSCAN19 Zinc finger protein 449 ZNF449 203523 ENSG00000173275 Zfp449 (MGI:1925869)
chrX 135708397 135723317 Xq26.3 Xq26.3 300648 CT45A1, CT45 Cancer/testis antigen family 45, member A1 CT45A1 541466 ENSG00000268940
chrX 135760066 135768223 Xq26.3 Xq26.3 300794 CT45A3, CT45.3 Cancer/testis antigen family 45, member A3 CT45A3 441519 ENSG00000269096
chrX 135777129 135785513 Xq26.3 Xq26.3 300796 CT45A5, CT45.5 Cancer/testis antigen family 45, member A5 CT45A5 441521 ENSG00000228836
chrX 135794686 135802760 Xq26.3 Xq26.3 300797 CT45A6, CT45.6 Cancer/testis antigen family 45, member A6 CT45A6 541465 ENSG00000278289
chrX 135811978 135820061 Xq26.3 Xq26.3 300793 CT45A2, CT45.2 Cancer/testis antigen family 45, member A2 CT45A2 728911 ENSG00000271449
chrX 135893606 135913060 Xq28 Xq26.3 300359 SAGE Sarcoma antigen SAGE1 55511 ENSG00000181433
chrX 135974595 136047268 Xq26.3 Xq26.3 300231 SLC9A6, NHE6 Solute carrier family 9 (sodium/hydrogen exchanger), member 6 SLC9A6 10479 ENSG00000198689 Mental retardation, X-linked syndromic, Christianson type, 300243 (3), X-linked dominant Slc9a6 (MGI:2443511)
chrX 136146701 136211358 Xq27.2 Xq26.3 300163 FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B, FCMSU Four-and-a-half LIM domains 1 FHL1 2273 ENSG00000022267 mutation identified in 1 FCMSU family Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3), X-linked recessive; Myopathy, X-linked, with postural muscle atrophy, 300696 (3), X-linked recessive; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 (3), X-linked dominant; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 (3), X-linked; Scapuloperoneal myopathy, X-linked dominant, 300695 (3), X-linked dominant; ?Uruguay faciocardiomusculoskeletal syndrome, 300280 (3), X-linked recessive Fhl1 (MGI:1298387)
chrX 136213219 136256481 Xq26.3 Xq26.3 300930 MAP7D3, MDP3 MAP7 domain-containing protein 3 MAP7D3 79649 ENSG00000129680 Map7d3 (MGI:2445051)
chrX 136487965 136492438 Xq26-q28 Xq26.3 300107 BRS3 Bombesin-like receptor 3 BRS3 680 ENSG00000102239 Brs3 (MGI:1100501)
chrX 136497078 136512345 Xq26.3 Xq26.3 300346 HTATSF1, TATSF1 HIV-1 TAT stimulatory factor 1 HTATSF1 27336 ENSG00000102241 Htatsf1 (MGI:1919709)
chrX 136532151 136556806 Xq26.1-q27.2 Xq26.3 300583 VGLL1, VGL1, TDU Vestigial-like 1 VGLL1 51442 ENSG00000102243 Vgll1 (MGI:2655768)
chrX 136648176 136660389 Xq26 Xq26.3 300386 TNFSF5, CD40LG, HIGM1, IGM Tumor necrosis factor ligand superfamily, member 5 CD40LG 959 ENSG00000102245 Between DSX144E and DSX300 Immunodeficiency, X-linked, with hyper-IgM, 308230 (3), X-linked recessive Cd40lg (MGI:88337)
chrX 136665546 136781343 Xq26 Xq26.3 300267 ARHGEF6, MRX46, COOL2 Rho guanine nucleotide exchange factor-6 ARHGEF6 9459 ENSG00000129675 Mental retardation, X-linked 46, 300436 (3), X-linked recessive Arhgef6 (MGI:1920591)
chrX 136869193 136880779 Xq26 Xq26.3 300199 RBMX, MRXS11 RNA-binding motif protein, X chromosome RBMX 27316 ENSG00000147274 mutation identified in 1 MRXS11 family ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3), X-linked recessive Rbmx (MGI:1343044)
chrX 137030147 137031673 Xq26.3 Xq26.3 300393 GPR101, PAGH2, PITA2 G protein-coupled receptor 101 GPR101 83550 ENSG00000165370 Pituitary adenoma 2, GH-secreting, 300943 (3) Gpr101 (MGI:2685211)
chrX 137566126 137577690 Xq26.2 Xq26.3 300265 ZIC3, HTX1, HTX, VACTERLX Zic family, member 3 ZIC3 7547 ENSG00000156925 Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3), X-linked recessive; Heterotaxy, visceral, 1, X-linked, 306955 (3), X-linked recessive; VACTERL association, X-linked, 314390 (3), X-linked recessive Zic3 (MGI:106676)
chrX 138631572 139222888 Xq26.3 Xq26.3-q27.1 300070 FGF13, FGF2 Fibroblast growth factor-13 FGF13 2258 ENSG00000129682 Fgf13 (MGI:109178)
chrX 138900000 148000000 Xq27 300536 BMND4 Bone mineral density QTL 4 554316 [Bone mineral density QTL 4], 300536 (2)
chrX 138900000 141200000 Xq27.1 300898 CIRS7, CDR1AS Circular RNA sponge for MIR7
chrX 138900000 148000000 Xq27 300085 COD2 Cone dystrophy-2, X-linked COD2 1275 Cone dystrophy, progressive X-linked, 2, 300085 (2), X-linked
chrX 138900000 156040895 Xq27-q28 300147 HPCX1 Prostate cancer, hereditary, X-linked 1 HPCX 9566 between D3S2390 and bG82i1.0 {Prostate cancer, hereditary, X-linked 1}, 300147 (2)
chrX 138900000 141200000 Xq27.1 307150 HTC2, HCG, CGH, CXINSq27.1 Hypertrichosis, congenital generalized palindrome-mediated interchromosomal insertion at Xq27.1 Hypertrichosis, congenital generalized, 307150 (4), X-linked dominant
chrX 138900000 156040895 Xq27-q28 301590 MCOPS4, ANOP1 Microphthalmia, syndromic 4 ANOP1 289 ?Microphthalmia, syndromic 4, 301590 (2), X-linked recessive
chrX 138900000 148000000 Xq27 300228 TGCT1 Testicular germ cell tumor 1 TGCT1 50830 Testicular germ cell tumor, 300228 (2)
chrX 139530719 139563458 Xq27.1-q27.2 Xq27.1 300746 F9, HEMB, THPH8 Coagulation factor IX (plasma thromboplastic component) F9 2158 ENSG00000101981 distal to HPRT; proximal part of Xq27 {Deep venous thrombosis, protection against}, 300807 (3); Hemophilia B, 306900 (3), X-linked recessive; Thrombophilia, X-linked, due to factor IX defect, 300807 (3); {Warfarin sensitivity}, 122700 (3), Autosomal dominant F9 (MGI:88384)
chrX 139581767 139708278 Xq27 Xq27.1 311030 MCF2, DBL Oncogene MCF2 (oncogene DBL) MCF2 4168 ENSG00000101977 ~60kb telomeric to F9; 5' replacement by chr.15 segment Mcf2 (MGI:96932)
chrX 139726345 139933082 Xq27 Xq27.1 300516 ATP11C, ATPIQ, ATPIG ATPase, class VI, type 11C ATP11C 286410 ENSG00000101974 Atp11c (MGI:1859661)
chrX 140502986 140505059 Xq26.3 Xq27.1 313430 SOX3, MRGH SRY (sex determining region Y)-box 3 SOX3 6658 ENSG00000134595 P mutant in BFLS Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3); Panhypopituitarism, X-linked, 312000 (3), X-linked Sox3 (MGI:98365)
chrX 140783259 140784557 Xq27.1-q27.2 Xq27.1 302650 CDR1, CDR62A Cerebellar degeneration-related protein-1, 34kD CDR1 1038 ENSG00000184258 between HPRT and F9
chrX 141002590 141003705 Xq27.1-q27.3 Xq27.1 300669 SPANXB1, SPANXB SPANX family, member B1 SPANXB1 728695 ENSG00000227234
chrX 141175744 141177213 Xq27 Xq27.1 300402 LDOC1 Leucine zipper downregulated in cancer 1 LDOC1 23641 ENSG00000182195 Ldoc1 (MGI:2685212)
chrX 141200000 156040895 Xq27.2-q28 300388 BPP, PMGX, CBPS Polymicrogyria, bilateral perisylvian possible genetic heterogeneity Polymicrogyria, bilateral perisylvian, 300388 (2), X-linked dominant
chrX 141241462 141242549 Xq26.3-q27.1 Xq27.2 300330 SPANXC, CTP11 Sperm protein associated with the nucleus, X chromosome, family member C SPANXC 64663 ENSG00000198573
chrX 141583673 141584737 Xq27.1 Xq27.2 300305 SPANXA1, SPANX Sperm protein associated with the nucleus, X chromosome, family member A1 SPANXA1 30014 ENSG00000198021
chrX 141589707 141590771 Xq27.2 Xq27.2 300493 SPANXA2 Sperm protein associated with the nucleus, X chromosome, family member A2 SPANXA2 728712 ENSG00000203926
chrX 141697400 141698738 Xq27.1 Xq27.2 300670 SPANXD SPANX family, member D SPANXD 64648 ENSG00000196406
chrX 141697400 141698738 Xq27.1 Xq27.2 300671 SPANXE SPANX family, member E SPANXD 64648 ENSG00000196406
chrX 141838315 141898141 Xq27 Xq27.2 300469 MAGEC3 Melanoma antigen, family C, 3 MAGEC3 139081 ENSG00000165509
chrX 141903855 141909400 Xq26 Xq27.2 300223 MAGEC1 Melanoma antigen, family C, 1 MAGEC1 9947 ENSG00000155495
chrX 142202341 142205289 Xq27 Xq27.2 300468 MAGEC2, MAGEE1, CT10, HCA587 Melanoma antigen, family C, 2 MAGEC2 51438 ENSG00000046774
chrX 143000000 156040895 Xq27.3-q28 300869 DUPXq27.3q28, CXDUPq27.3q28 Chromosome Xq27.3-q28 duplication syndrome Chromosome Xq27.3-q28 duplication syndrome, 300869 (4), X-linked recessive
chrX 143000000 148000000 Xq27.3 300509 DYX9 Dyslexia, susceptibility to, 9 DYX9 474159 max lod at DXS8043 {Dyslexia, susceptibility to, 9}, 300509 (2)
chrX 143000000 156040895 Xq27.3-qter 302000 EBM Epidermolysis bullosa, macular type EBM 1881
chrX 143025917 143038636 Xq27 Xq27.3 300667 SPANXN4 SPANX family, member N4 SPANXN4 441525 ENSG00000189326
chrX 143508734 143517474 Xq27 Xq27.3 300666 SPANXN3 SPANX family, member N3 SPANXN3 139067 ENSG00000189252
chrX 143622789 143636106 Xq27 Xq27.3 300562 SLITRK4 SLIT- and NTRK-like family, member 4 SLITRK4 139065 ENSG00000179542 Slitrk4 (MGI:2442509)
chrX 143712034 143720667 Xq27 Xq27.3 300665 SPANXN2 SPANX family, member N2 SPANXN2 494119 ENSG00000268988
chrX 145247586 145256207 Xq27 Xq27.3 300664 SPANXN1 SPANX family, member N1 SPANXN1 494118 ENSG00000203923
chrX 145817828 145829855 Xq27 Xq27.3 300561 SLITRK2, KIAA1854, CXorf1, CXorf2 SLIT- and NTRK-like family, member 2 SLITRK2 84631 ENSG00000185985 Slitrk2 (MGI:2679449)
chrX 147230719 147230842 Xq27.3 Xq27.3 300877 MIR506 Micro RNA 506 MIR506 574511
chrX 147236912 147237026 Xq27.3 Xq27.3 300874 MIR508 Micro RNA 508 MIR508 574513
chrX 147259651 147259725 Xq27.3 Xq27.3 300876 MIR509-3 Micro RNA 509-3 MIR509-3 100126337
chrX 147260531 147260624 Xq27.3 Xq27.3 300875 MIR509-1 Micro RNA 509-2 MIR509-1 574514
chrX 147272334 147272407 Xq27.3 Xq27.3 300866 MIR510 Micro RNA 510 MIR510 574515
chrX 147909430 147911816 Xq27 Xq27.3 300805 FMR1AS1, ASFMR1 FMR1 antisense RNA 1 FMR1-AS1 100126270
chrX 147911950 147951126 Xq27.3 Xq27.3 309550 FMR1, FRAXA, POF1 FMR1 gene FMR1 2332 ENSG00000102081 8-8.7Mb from telomere Fragile X syndrome, 300624 (3), X-linked dominant; Fragile X tremor/ataxia syndrome, 300623 (3), X-linked dominant; Premature ovarian failure 1, 311360 (3), X-linked Fmr1 (MGI:95564)
chrX 148000000 156040895 Xq28 300843 BED Bornholm eye disease 100653365 linked to F8 Bornholm eye disease, 300843 (2), X-linked recessive
chrX 148000000 156040895 Xq28 300815 DUPXq28, CXq28 Chromosome Xq28 duplication syndrome Chromosome Xq28 duplication syndrome, 300815 (4)
chrX 148000000 156040895 Xq28 305424 DXS522E, F8B DNA segment, single copy, expressed probes, intron 22 probe, F8B
chrX 148000000 156040895 Xq28 306995 HMS1, GAY1 Homosexuality, male [?Homosexuality, male], 306995 (2), X-linked
chrX 148000000 156040895 Xq28 309200 MAFD2, MDX Major affective disorder 2 MAFD2 4096 linkage to G6PD,CB in non-Ashkenazi Jews {?Major affective disorder 2}, 309200 (2), X-linked dominant
chrX 148000000 156040895 Xq28 309620 MRSD, CHRS Mental retardation-skeletal dysplasia MRSD 4364 Mental retardation-skeletal dysplasia, 309620 (2), X-linked
chrX 148000000 156040895 Xq28 300261 MRXSA Armfield X-linked mental retardation syndrome 57791 Mental retardation syndrome, X-linked, Armfield type, 300261 (2), X-linked recessive
chrX 148000000 156040895 Xq28 300845 MYMY4, CXDELq38 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism and facial dysmorphism contiguous gene deletion syndrome (3.4kb) Moyamoya disease 4, 300845 (4), X-linked recessive
chrX 148000000 156040895 Xq28 310460 MYP1 Myopia 1, X-linked MYP1 4657 Myopia-1, 310460 (2), X-linked recessive
chrX 148000000 156040895 Xq28 300605 RP34 Retinitis pigmentosa 34 RP34 777642 Retinitis pigmentosa 34, 300605 (2)
chrX 148000000 156040895 Xq28 300809 SLEB15 Systemic lupus erythematosus, susceptibility to, 15 100379200 associated with rs17435 {Systemic lupus erythematosus, susceptibility to, 15}, 300809 (2)
chrX 148000000 156040895 Xq28 314300 TKCR, TKC Torticollis, keloids, cryptorchidism and renal dysplasia TKCR 7085 distal to G6PD Goeminne TKCR syndrome, 314300 (2), X-linked
chrX 148000000 156040895 Xq28 314900 XM Xm XM 7506 linked to DCB, PCB
chrX 148500618 149000662 Xq28 Xq28 300806 AFF2, FMR2, FRAXE, MRX2 AF4/FMR2 family, member 2 (fragile site, X-linked, E) AFF2 2334 ENSG00000155966 Mental retardation, X-linked, FRAXE type, 309548 (3), X-linked recessive
chrX 149476989 149505353 Xq28 Xq28 300823 IDS, MPS2, SIDS Iduronate 2-sulfatase (Hunter syndrome) IDS 3423 ENSG00000010404 telomeric IDS2 source of inversion in IDS Mucopolysaccharidosis II, 309900 (3), X-linked recessive Ids (MGI:96417)
chrX 149540629 149555344 Xq27 Xq28 300954 CXorf40A, EOLA1 Chromosome X open reading frame 40A CXorf40A 91966 ENSG00000197620 1110012L19Rik (MGI:1915868)
chrX 149581652 149587467 Xq28 Xq28 300764 MAGEA9B Melanoma antigen, family A, 9B MAGEA9B 728269 ENSG00000267978
chrX 149596555 149631911 Xq28 Xq28 300031 FAM11A, FRAXF Family with sequence similarity 11, member A TMEM185A 84548 ENSG00000269556 Tmem185a (MGI:2448555)
chrX 149688201 149717267 Xq28 Xq28 300344 MAGEA11, MAGE11 Melanoma antigen, family A, 11 MAGEA11 4110 ENSG00000185247 Magea4 (MGI:1333839)
chrX 149781875 149787736 Xq28 Xq28 300342 MAGEA9, MAGE9 Melanoma antigen, family A, 9 MAGEA9 4108 ENSG00000123584
chrX 149825707 149879798 Xq28 Xq28 300892 LINC00850, KUCG1 Long intergenic noncoding RNA 850 LINC00850 101241891
chrX 149881140 149885834 Xq28 Xq28 300341 MAGEA8, MAGE8 Melanoma antigen, family A, 8 MAGEA8 4107 ENSG00000156009
chrX 150361563 150514177 Xq28 Xq28 300120 MAMLD1, CXorf6, F18, HYSP2 Mastermind-like domain containing 1 MAMLD1 10046 ENSG00000013619 near MTM1 in microdeletion Hypospadias 2, X-linked, 300758 (3), X-linked recessive
chrX 150562657 150673142 Xq28 Xq28 300415 MTM1, MTMX Myotubularin MTM1 4534 ENSG00000171100 close to F8 Myotubular myopathy, X-linked, 310400 (3), X-linked recessive Mtm1 (MGI:1099452)
chrX 150692961 150765102 Xq28 Xq28 300171 MTMR1 Myotubularin-related protein-1 MTMR1 8776 ENSG00000063601 Mtmr1 (MGI:1858271)
chrX 150766335 150898815 Xq28 Xq28 300846 CD99L2, CD99B CD99 antigen-like 2 CD99L2 83692 ENSG00000102181 Cd99l2 (MGI:2177151)
chrX 150980507 150990774 Xq28 Xq28 300193 HMGB3, HMG4, HMG2A, MCOPS13 High-mobility group box 3 (high mobility group protein 4) HMGB3 3149 ENSG00000029993 mutation identified in 1 MCOPS13 family ?Microphthalmia, syndromic 13, 300915 (3), X-linked
chrX 151176583 151182854 Xq28 Xq28 300207 GPR50 G protein-coupled receptor 50 GPR50 9248 ENSG00000102195 Gpr50 (MGI:1333877)
chrX 151396554 151409363 Xq28 Xq28 300913 VMA21, XMEA Vma21, S. cerevisiae, homolog of VMA21 203547 ENSG00000160131 Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive
chrX 151563183 151676738 Xq28 Xq28 300993 PASD1, CT64, OXTES1 PAS domain-containing repressor 1 PASD1 139135 ENSG00000166049
chrX 151694605 151701590 Xq28 Xq28 300685 PRRG3, PRGP3, TMG3 Proline-rich gamma-carboxyglutamic acid protein 3 PRRG3 79057 ENSG00000130032 Prrg3 (MGI:2685214)
chrX 151716035 151723193 Xq28 Xq28 300450 FATE1 Fetal and adult testis-expressed gene 1 FATE1 89885 ENSG00000147378
chrX 151734745 151745563 Xq27 Xq28 300338 CNGA2, CNG2, OCNC1 Cyclic nucleotide-gated channel, alpha-2 CNGA2 1260 ENSG00000183862 Cnga2 (MGI:108040)
chrX 151912888 151925169 Xq28 Xq28 300175 MAGEA4, MAGE4A, MAGE4B Melanoma antigen, family A, 4 MAGEA4 4103 ENSG00000147381
chrX 151953123 151974691 Xq28 Xq28 300093 GABRE Gamma-aminobutyric acid (GABA) A receptor, epsilon GABRE 2564 ENSG00000102287
chrX 151958577 151958657 Xq28 Xq28 300769 MIR224, MIRN224 Micro RNA 224 MIR224 407009
chrX 152114048 152117938 Xq28 Xq28 300340 MAGEA5, MAGE5 Melanoma antigen, family A, 5 MAGEA5 4104
chrX 152133309 152138577 Xq28 Xq28 300343 MAGEA10, MAGE10 Melanoma antigen, family A, 10 MAGEA10 4109 ENSG00000124260 Magea10 (MGI:3588211)
chrX 152166233 152451358 Xq28 Xq28 305660 GABRA3 Gamma-aminobutyric acid (GABA) A receptor, alpha-3 GABRA3 2556 ENSG00000011677 4Mb from telomere Gabra3 (MGI:95615)
chrX 152392218 152392298 Xq28 Xq28 300811 MIR105-1, MIRN105-1 Micro RNA 105-1 MIR105-1 406897
chrX 152394411 152394491 Xq28 Xq28 300812 MIR105-2, MIRN105-2 Micro RNA 105-2 MIR105-2 406898
chrX 152637894 152659827 Xq28 Xq28 300349 GABRQ Gamma-aminobutyric acid receptor, theta GABRQ 55879 ENSG00000268089 Gabrq (MGI:1888498)
chrX 152698741 152702346 Xq28 Xq28 300174 MAGEA3, MAGE3 Melanoma antigen, family A, 3 MAGEA3 4102 ENSG00000221867
chrX 152714527 152718606 Xq28 Xq28 300549 MAGEA2B Melanoma antigen, family A, 2B MAGEA2B 266740 ENSG00000183305
chrX 152727483 152733735 Xq28 Xq28 300944 CSAG1, CSAGE CSAG family, member 1 ` CSAG1 158511 ENSG00000198930
chrX 152733778 152737668 Xq28 Xq28 300177 MAGEA12, MAGE12 Melanoma antigen, family A, 12 MAGEA12 4111 ENSG00000213401
chrX 152749862 152753941 Xq28 Xq28 300173 MAGEA2, MAGE2 Melanoma antigen, family A, 2 MAGEA2 4101 ENSG00000268606
chrX 152766135 152769728 Xq28 Xq28 300176 MAGEA6, MAGE6 Melanoma antigen, family A, 6 MAGEA6 4105 ENSG00000197172
chrX 152827326 152830756 Xq28 Xq28 300006 CETN2, CALT Centrin, EF-hand protein, 2 (caltractin) CETN2 1069 ENSG00000147400 Cetn2 (MGI:1347085)
chrX 152830966 152869362 Xq28 Xq28 300275 NSDHL NAD(P)H steroid dehydrogenase-like protein NSDHL 50814 ENSG00000147383 CHILD syndrome, 308050 (3), X-linked dominant; CK syndrome, 300831 (3), X-linked recessive Nsdhl (MGI:1099438)
chrX 152898131 152973480 Xq28 Xq28 300381 ZNF185 Zinc finger protein 185 ZNF185 7739 ENSG00000147394
chrX 152988823 152994457 Xq28 Xq28 300916 PNMA5, KIAA1934 Paraneoplastic MA antigen family, member 5 PNMA5 114824 ENSG00000198883 Pnma5 (MGI:2180566)
chrX 153056408 153060466 Xq28 Xq28 300675 PNMA3, MA3 Paraneoplastic MA antigen 3 PNMA3 29944 ENSG00000183837 Pnma3 (MGI:2180565)
chrX 153072413 153075018 Xq28 Xq28 300917 PNMA6A, PNMA6 Paraneoplastic MA antigen family, member 6A PNMA6A 84968 ENSG00000235961
chrX 153179283 153183877 Xq28 Xq28 300016 MAGE1 Melanoma antigen 1 (directs expression of antigen MZ2-E) MAGEA1 4100 ENSG00000198681 cluster of 12 genes
chrX 153444719 153446486 Xq28 Xq28 300370 TREX2 3-prime repair exonuclease 2 TREX2 11219 ENSG00000183479 Trex2 (MGI:1346343)
chrX 153447664 153495524 Xq28 Xq28 300540 HAUS7, UCHL5IP, UIP1 HAUS augmin-like complex, subunit 7 HAUS7 55559 ENSG00000213397 Haus7 (MGI:1920988)
chrX 153494888 153509553 Xq28 Xq28 301870 BGN, SEMDX, MRLS Biglycan BGN 633 ENSG00000182492 proximal Xq28 Meester-Loeys syndrome, 300989 (3), X-linked; Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3), X-linked recessive Bgn (MGI:88158)
chrX 153517676 153582928 Xq28 Xq28 300014 ATP2B3, PMCA3, SCAX1 ATPase, Ca++ transporting, plasma membrane, 3 ATP2B3 492 ENSG00000067842 mutation identified in 1 family ?Spinocerebellar ataxia, X-linked 1, 302500 (3), X-linked recessive Atp2b3 (MGI:1347353)
chrX 153587924 153599176 Xq28 Xq28 300708 FAM58A, STAR Family with sequence similarity 58, member A CCNQ 92002 ENSG00000262919 STAR syndrome, 300707 (3), X-linked dominant Fam58b (MGI:1916359)
chrX 153642442 153651325 Xq28 Xq28 300134 DUSP9, MKP4 Dual-specificity phosphatase 9 DUSP9 1852 ENSG00000130829 Dusp9 (MGI:2387107)
chrX 153669722 153687567 Xq28 Xq28 300680 PNCK, CAMK1B, BSTK3 Pregnancy-upregulated, nonubiquitous, CAM kinase PNCK 139728 ENSG00000130822 Pnck (MGI:1347357)
chrX 153688296 153696592 Xq28 Xq28 300036 SLC6A8, CRTR, CCDS1 Solute carrier family 6 (neurotransmitter transporter, creatine), member 8 SLC6A8 6535 ENSG00000130821 distal to G6PD Cerebral creatine deficiency syndrome 1, 300352 (3), X-linked recessive Slc6a8 (MGI:2147834)
chrX 153700491 153724745 Xq28 Xq28 300398 BCAP31, BAP31, DXS1357E, DDCH B-cell receptor-associated protein 31 BCAP31 10134 ENSG00000185825 Deafness, dystonia, and cerebral hypomyelination, 300475 (3), X-linked recessive Bcap31 (MGI:1350933)
chrX 153724850 153744761 Xq28 Xq28 300371 ABCD1, ALD, AMN ATP-binding cassette, subfamily D, member 1 ABCD1 215 ENSG00000101986 about 650kb from GCP/RCP Adrenoleukodystrophy, 300100 (3), X-linked recessive; Adrenomyeloneuropathy, adult, 300100 (3), X-linked recessive Abcd1 (MGI:1349215)
chrX 153764195 153779345 Xq28 Xq28 300214 PLXNB3, PLXN6 Plexin B3 PLXNB3 5365 ENSG00000198753 Plxnb3 (MGI:2154240)
chrX 153781000 153785731 Xq28 Xq28 301002 SRPK3, STK23, MSSK1 Protein kinase, serine/arginine-specific, 3 SRPK3 26576 ENSG00000184343 Srpk3 (MGI:1891338)
chrX 153785765 153794522 Xq28 Xq28 300089 IDH3G Isocitrate dehydrogenase 3 (NAD+), gamma IDH3G 3421 ENSG00000067829 Idh3g (MGI:1099463)
chrX 153794174 153798511 Xq28 Xq28 300090 SSR4, TRAPD, CDG1Y Signal sequence receptor, delta SSR4 6748 ENSG00000180879 Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive Ssr4 (MGI:1099464)
chrX 153802165 153830566 Xq28 Xq28 300634 PDZD4, PDZK4, PDZRN4L, KIAA1444, LU1 PDZ domain-containing 4 PDZD4 57595 ENSG00000067840 Pdzd4 (MGI:2443483)
chrX 153861513 153886173 Xq28 Xq28 308840 L1CAM, CAML1, HSAS1, MASA, SPG1 L1 cell adhesion molecule L1CAM 3897 ENSG00000198910 between RCP/GCP cluster and G6PD CRASH syndrome, 303350 (3), X-linked recessive; Corpus callosum, partial agenesis of, 304100 (3), X-linked recessive; Hydrocephalus due to aqueductal stenosis, 307000 (3), X-linked recessive; Hydrocephalus with Hirschsprung disease, 307000 (3), X-linked recessive; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3), X-linked recessive; MASA syndrome, 303350 (3), X-linked recessive L1cam (MGI:96721)
chrX 153902530 153907165 Xq28 Xq28 300538 AVPR2, DIR, DI1, ADHR Arginine vasopressin receptor-2 AVPR2 554 ENSG00000126895 Diabetes insipidus, nephrogenic, 304800 (3), X-linked recessive; Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3), X-linked recessive Avpr2 (MGI:88123)
chrX 153907375 153926259 Xq28 Xq28 300023 RGC1 Rho-GAP hematopoietic protein C1 ARHGAP4 393 ENSG00000089820 Arhgap4 (MGI:2159577)
chrX 153929826 153935153 Xq28 Xq28 300013 NAA10, ARD1A, ARD1, TE2, NATD, OGDNS, MCOPS1 N-alpha-acetyltransferase 10, NatA catalytic subunit NAA10 8260 ENSG00000102030 mutation identified in 1 MCOPS1 family ?Microphthalmia, syndromic 1, 309800 (3), X-linked; Ogden syndrome, 300855 (3), X-linked recessive, X-linked dominant Naa10 (MGI:1915255)
chrX 153935262 153944779 Xq28 Xq28 312420 RENBP Renin-binding protein RENBP 5973 ENSG00000102032 Renbp (MGI:105940)
chrX 153947555 153972359 Xq28 Xq28 300019 HCFC1, HCF1, MRX3 Host cell factor C1 (VP16-accessory protein) HCFC1 3054 ENSG00000172534 50kb distal to V2R Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3), X-linked recessive Hcfc1 (MGI:105942)
chrX 153972539 153983194 Xq28 Xq28 300059 TMEM187, CXorf12, DXS9878E, ITBA1 gene Transmembrane protein 187 TMEM187 8269 ENSG00000177854
chrX 154010505 154019983 Xq28 Xq28 300283 IRAK1 Interleukin 1 receptor-associated kinase 1 IRAK1 3654 ENSG00000184216 Irak1 (MGI:107420)
chrX 154019919 154019988 Xq28 Xq28 300929 MIR718 Micro RNA 718 MIR718 100313781
chrX 154021799 154097730 Xq28 Xq28 300005 MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13 Methyl-CpG-binding protein-2 MECP2 4204 ENSG00000169057 70kb centromeric of RCP/GCP {Autism susceptibility, X-linked 3}, 300496 (3), Isolated cases, X-linked, Multifactorial; Encephalopathy, neonatal severe, 300673 (3), X-linked recessive; Mental retardation, X-linked syndromic, Lubs type, 300260 (3), X-linked recessive; Mental retardation, X-linked, syndromic 13, 300055 (3), X-linked recessive; Rett syndrome, 312750 (3), X-linked dominant; Rett syndrome, atypical, 312750 (3), X-linked dominant; Rett syndrome, preserved speech variant, 312750 (3), X-linked dominant Mecp2 (MGI:99918)
chrX 154137726 154144285 Xq28 Xq28 300824 OPN1C OPN1LW and OPN1MW genes, controller of 107604627
chrX 154144223 154159031 Xq28 Xq28 300822 OPN1LW, RCP, CBP, CBBM Red cone pigment (opsin 1, long-wave-sensitive) OPN1LW 5956 ENSG00000102076 5' to CBD Blue cone monochromacy, 303700 (3), X-linked recessive; Colorblindness, protan, 303900 (3), X-linked Opn1mw (MGI:1097692)
chrX 154182595 154196860 Xq28 Xq28 300821 OPN1MW, GCP, CBD, CBBM Green cone pigment (opsin 1, medium-wave-sensitive) OPN1MW 2652 ENSG00000268221 linked to G6PD; multiple genes Blue cone monochromacy, 303700 (3), X-linked recessive; Colorblindness, deutan, 303800 (3), X-linked
chrX 154271264 154295355 Xq28 Xq28 300092 TEX28 Testis-expressed gene on Xq28 TEX28 1527 ENSG00000278057 Tex28 (MGI:2686384)
chrX 154295673 154330362 Xq28 Xq28 300044 TKTL1, TKT2, TKR Transketolase-like 1 TKTL1 8277 ENSG00000007350 between GCP and FLN1 Tktl1 (MGI:1933244)
chrX 154348531 154374637 Xq28 Xq28 300017 FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2 Filamin A, alpha (actin-binding protein-280) FLNA 2316 ENSG00000196924 mutation identified in 1 FGS2 patient Cardiac valvular dysplasia, X-linked, 314400 (3), X-linked recessive; Congenital short bowel syndrome, 300048 (3), X-linked recessive; ?FG syndrome 2, 300321 (3), X-linked; Frontometaphyseal dysplasia 1, 305620 (3), X-linked recessive; Heterotopia, periventricular, 300049 (3), X-linked dominant; Intestinal pseudoobstruction, neuronal, 300048 (3), X-linked recessive; Melnick-Needles syndrome, 309350 (3), X-linked dominant; Otopalatodigital syndrome, type I, 311300 (3), X-linked dominant; Otopalatodigital syndrome, type II, 304120 (3), X-linked dominant; Terminal osseous dysplasia, 300244 (3), X-linked dominant Flna (MGI:95556)
chrX 154379235 154381522 Xq28 Xq28 300384 EMD, EDMD, STA Emerin EMD 2010 ENSG00000102119 in distal Xq28 Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3), X-linked recessive Emd (MGI:108117)
chrX 154398064 154402338 Xq28 Xq28 312173 RPL10, DXS648, QM, AUTSX5, MRXS35 Ribosomal protein L10 RPL10 6134 ENSG00000147403 {Autism, susceptibility to, X-linked 5}, 300847 (3); Mental retardation, X-linked, syndromic, 35, 300998 (3), X-linked recessive Rpl10 (MGI:105943)
chrX 154401235 154412100 Xq28 Xq28 300081 DNASE1L1, DNL1L Deoxyribonuclease I-like 1 DNASE1L1 1774 ENSG00000013563 between QM and DXS1010E Dnase1l1 (MGI:109628)
chrX 154411517 154421725 Xq28 Xq28 300394 TAZ, EFE2, BTHS, CMD3A, LVNCX Tafazzin TAZ 6901 ENSG00000102125 Barth syndrome, 302060 (3), X-linked recessive Taz (MGI:109626)
chrX 154428631 154436516 Xq28 Xq28 300197 ATP6AP1, ATP6IP1, ATP6S1, VATPS1 ATPase, H+ transporting, lysosomal, accessory protein 1 ATP6AP1 537 ENSG00000071553 Immunodeficiency 47, 300972 (3), X-linked recessive Atp6ap1 (MGI:109629)
chrX 154436912 154443466 Xq28 Xq28 300104 GDI1, RABGD1A, MRX41, MRX48 GDP dissociation inhibitor 1 GDI1 2664 ENSG00000203879 Mental retardation, X-linked 41, 300849 (3), X-linked dominant Gdi1 (MGI:99846)
chrX 154444125 154450653 Xq28 Xq28 300453 FAM50A, DXS9928E, HXC26 Family with sequence similarity 50, member A FAM50A 9130 ENSG00000071859 Fam50a (MGI:1351626)
chrX 154458280 154473645 Xq28 Xq28 300022 SEX Sex chromosome X transmembrane protein of HGF receptor family 3 PLXNA3 55558 ENSG00000130827 Plxna3 (MGI:107683)
chrX 154477768 154479256 Xq28 Xq28 300060 LAGE3, ITBA2, GAMOS2 L antigen family member 3 LAGE3 8270 ENSG00000196976 Galloway-Mowat syndrome 2, X-linked, 301006 (3), X-linked recessive
chrX 154483716 154486669 Xq28 Xq28 312070 UBL4A, GDX, UBL4, DX254E Ubiquitin-like 4A UBL4A 8266 ENSG00000102178 40kb 3' to G6PD Ubl4a,Gm44504 (MGI:95049,MGI:5621304)
chrX 154487305 154490689 Xq28 Xq28 312090 SLC10A3, P3 Solute carrier family 10 (sodium/bile acid cotransporter family) member 3 (protein p3) SLC10A3 8273 ENSG00000126903 order: G6PD-3'-(7kb)-5'-P3-3'-(0.5kb)-5'-GDX Slc10a3 (MGI:95048)
chrX 154506158 154516256 Xq28 Xq28 300492 FAM3A Family with sequence similarity 3, member A FAM3A 60343 ENSG00000071889 Fam3a (MGI:1913544)
chrX 154531389 154547585 Xq28 Xq28 305900 G6PD, G6PD1 Glucose-6-phosphate dehydrogenase G6PD 2539 ENSG00000160211 Hemolytic anemia, G6PD deficient (favism), 300908 (3), X-linked dominant; {Resistance to malaria due to G6PD deficiency}, 611162 (3) G6pdx (MGI:105979)
chrX 154542239 154565045 Xq28 Xq28 300248 IKBKG, NEMO, FIP3, IP, IPD2, AMCBX1, IMD33 Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma (NF-kappa-B essential modulator) IKBKG 8517 ENSG00000269335 Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (3); Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3); Immunodeficiency 33, 300636 (3), X-linked recessive; Immunodeficiency, isolated, 300584 (3); Incontinentia pigmenti, 308300 (3), X-linked dominant; Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3) Ikbkg (MGI:1338074)
chrX 154585153 154586815 Xq28 Xq28 300657 CTAG1A, LAGE2A Cancer/testis antigen 1A CTAG1A 246100 ENSG00000268651
chrX 154617608 154619270 Xq28 Xq28 300156 CTAG1B, CTAG1 Cancer/testis antigen 1B CTAG1B 1485 ENSG00000184033
chrX 154651971 154653578 Xq28 Xq28 300396 CTAG2, LAGE1, CAMEL Cancer/testis antigen 2 CTAG2 30848 ENSG00000126890
chrX 154675248 154751582 Xq28 Xq28 300482 GAB3 GRB2-associated binding protein 3 GAB3 139716 ENSG00000160219 Gab3 (MGI:2387324)
chrX 154762741 154777688 Xq28 Xq28 300126 DKC1, DKCX Dyskerin DKC1 1736 ENSG00000130826 Dyskeratosis congenita, X-linked, 305000 (3), X-linked recessive Dkc1 (MGI:1861727)
chrX 154778683 154805526 Xq28 Xq28 305360 MPP1, PEMP, EMP55 Membrane protein, palmitoylated-1, 55kD MPP1 4354 ENSG00000130830 ~30kb 3' and centromeric to F8 Mpp1 (MGI:105941)
chrX 154835787 155022722 Xq28 Xq28 300841 F8, F8C, HEMA Coagulation factor VIII, procoagulant component F8 2157 ENSG00000185010 cen-G6PD-3' end of F8C-5'-ter; 1.1Mb from telomere Hemophilia A, 306700 (3), X-linked recessive F8 (MGI:88383)
chrX 154886359 154888060 Xq28 Xq28 305423 F8A, DXS522E, HAP40 Factor VIII associated gene 1 F8A1 8263 ENSG00000277203 3 copies, 1 in intron 22 of F8C F8a (MGI:95474)
chrX 155064033 155071271 Xq28 Xq28 300116 MTCP1 Mature T-cell proliferation 1 MTCP1 4515 ENSG00000214827
chrX 155071402 155126765 Xq28 Xq28 300617 BRCC3, BRCC36 BRCA1/BRCA2-containing complex, subunit 3 BRCC3 79184 ENSG00000185515 Brcc3 (MGI:2389572)
chrX 155197006 155239840 Xq28 Xq28 300133 VBP1 Von Hippel-Lindau binding protein-1 VBP1 7411 ENSG00000155959 Vbp1 (MGI:1333804)
chrX 155258233 155264588 Xq28 Xq28 300774 RAB39B, MRX72, WSMN Ras-associated protein RAB39B RAB39B 116442 ENSG00000155961 mutation identified in 1 WSMN family Mental retardation, X-linked 72, 300271 (3), X-linked recessive; ?Waisman syndrome, 311510 (3), X-linked recessive Rab39b (MGI:1915040)
chrX 155276206 155334680 Xq28 Xq28 300138 CLIC2, XAP121, MRXS32 Chloride intracellular channel 2 CLIC2 1193 ENSG00000155962 mutation identified in 1 MRXS32 family ?Mental retardation, X-linked, syndromic 32, 300886 (3), X-linked recessive
chrX 155459418 155459934 Xq28 Xq28 300445 H2AFB, H2ABBD H2A histone family, member B H2AFB3 83740 ENSG00000277745 H2afb2,H2afb1,H2afb3 (MGI:3644875,MGI:3644980,MGI:3642445)
chrX 155489010 155612960 Xq28 Xq28 300777 TMLHE, BBOX2, TMLH, TMLHED, AUTSX6 Epsilon-trimethyllysine hydroxylase TMLHE 55217 ENSG00000185973 {Autism, susceptibility to, X-linked 6}, 300872 (3), X-linked recessive Tmlhe (MGI:2180203)
chrX 155612564 155782458 Xq28 Xq28 300531 SPRY3 Sprouty, Drosophila, homolog of, 3 SPRY3 10251 ENSG00000168939 in pseudoautosomal region PAR2 Spry3 (MGI:1345188)
chrX 155881279 155943768 Xq28 Xq28 300053 VAMP7, SYBL1, TIVAMP Vesicle-associated membrane protein 7 VAMP7 6845 ENSG00000124333 Vamp7 (MGI:1096399)
chrX 155997580 156013016 Xq28 Xq28 300007 IL9R Interleukin-9 receptor IL9R 3581 ENSG00000124334 in PAR2 pseudoautosomal region Il9r (MGI:96564)
chrX 0 156040895 Chr.X 300864 CCCSX Cerebral-cerebellar-coloboma syndrome, X-linked 100820758 Cerebral-cerebellar-coloboma syndrome, X-linked, 300864 (2), X-linked recessive
chrX 0 156040895 Chr.X 300471 CVMRF Cubitus valgus with mental retardation and unusual facies 494028 Cubitus valgus with mental retardation and unusual facies, 300471 (2), X-linked recessive
chrX 0 156040895 Chr.X 300719 DFCTRPS Deafness, cataract, retinitis pigmentosa, and sperm abnormalities 100188774 Deafness, cataract, retinitis pigmentosa, and sperm abnormalities, 300719 (2), X-linked recessive
chrX 0 156040895 Chr.X 300345 MCOPCB1 Microphthalmia, isolated, with coloboma 1 85503 Microphthalmia with coloboma 1, 300345 (2)
chrX 0 156040895 Chr.X 300716 MRX95 Mental retardation, X-linked 95 102775568 Mental retardation, X-linked 95, 300716 (2), X-linked dominant
chrX 0 156040895 Chr.X 300612 MRXSBWB Brooks-Wisniewski-Brown syndrome 105463128 Brooks-Wisniewski-Brown syndrome, 300612 (2), X-linked recessive
chrX 0 156040895 Chr.X 300519 MRXSMP Mental retardation, X-linked, syndromic, Martin-Probst type 574047 Mental retardation, X-linked, syndromic, Martin-Probst type, 300519 (2), X-linked recessive
chrX 0 156040895 Chr.X 300331 THCYTX Thrombocythemia, X-linked 84434 Thrombocythemia, X-linked, 300331 (2), X-linked recessive
chrY 0 300000 Yp11.32 400046 PLCXD1Y Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 1 in pseudoautosomal region
chrY 0 10400000 Yp11 489500 XGR XG regulator XGR 7501 in pseudoautosomal region
chrY 624343 659410 Ypter-p11.2 Yp11.2 400020 SHOXY Short stature homeo box, Y-linked SHOX 6473 ENSG00000185960 pseudoautosomal Langer mesomelic dysplasia, 249700 (3), Autosomal recessive; Leri-Weill dyschondrosteosis, 127300 (3), Autosomal dominant; Short stature, idiopathic familial, 300582 (3)
chrY 1190436 1212761 Yp11.3 Yp11.2 400023 CRLF2Y Cytokine receptor-like factor 2, Y-linked CRLF2 64109 ENSG00000205755 pseudoautosomal
chrY 1268799 1325096 Yp11 Yp11.2 425000 CSF2RY Granulocyte-macrophage colony-stimulating factor receptor, alpha subunit (Y chromosome) CSF2RA 1438 ENSG00000198223 306250 = X homolog; distal to MIC2Y
chrY 1336573 1382688 Yp11.3 Yp11.2 430000 IL3RA, IL3RY, IL3RAY Interleukin-3 receptor (Y chromosome) IL3RA 3563 ENSG00000185291 308385 = X homolog; pseudoautosomal
chrY 1386151 1392145 Yp Yp11.2 403000 ANT3Y Adenine nucleotide translocator-3 (Y chromosome) SLC25A6 293 ENSG00000169100 300151 = X homolog; proximal to CSF2RY
chrY 1403138 1453793 Ypter-p11.2 Yp11.2 400011 ASMTLY Acetylserotonin methyltransferase-like, Y-linked ASMTL 8623 ENSG00000169093
chrY 1591592 1602519 Ypter-p11.2 Yp11.2 465000 AKAP17A, SFRS17A, XE7Y A kinase (PRKA) anchor protein 17A AKAP17A 8227 ENSG00000197976 see 300015 locus
chrY 1595454 1643080 Ypter-p11.2 Yp11.2 402500 ASMTY Acetylserotonin methyltransferase (Y chromosome) ASMT 438 ENSG00000196433 pseudoautosomal
chrY 2691132 2741308 Ypter-p11.2 Yp11.2 450000 MIC2Y Antigen identified by monoclonal 12E7, Y homolog CD99 4267 ENSG00000002586 pseudoautosomal
chrY 2786854 2787740 Yp11.3 Yp11.2 480000 SRY, TDF, TDY, SRXX1, SRXY1 Sex-determining region Y (testis determining factor) SRY 6736 ENSG00000184895 46XX sex reversal 1, 400045 (3); 46XY sex reversal 1, 400044 (3)
chrY 2841581 2866955 Yp11.3 Yp11.2 470000 RPS4Y1 Ribosomal protein S4, Y-linked, 1 RPS4Y1 6192 ENSG00000129824 Rps4x (MGI:98158)
chrY 2934401 2982507 Yp11.3 Yp11.2 490000 ZFY Zinc finger protein, Y-linked ZFY 7544 ENSG00000067646
chrY 3579084 3580040 Yp11.2 Yp11.2 400025 TGIF2LY, TGIFLY Transforming growth factor-beta-induced factor 2-like, Y-linked TGIF2LY 90655 ENSG00000176679
chrY 5000043 5742227 Yp11.2 Yp11.2 400022 PCDH11Y, PCDH22, PCDHY Protocadherin 22 PCDH11Y 83259 ENSG00000099715
chrY 6865917 6874055 Yp11 Yp11.2 410000 AMELY, AMGL Amelogenin (Y chromosome) AMELY 266 ENSG00000099721 301200 = X homolog Amelx (MGI:88005)
chrY 6908593 7107153 Yp11.2 Yp11.2 400033 TBL1Y Transducin-beta-like 1, Y-linked TBL1Y 90665 ENSG00000092377
chrY 7273971 7381546 Yp11.2 Yp11.2 400008 PRKY Protein kinase, Y-linked PRKY 5616
chrY 9466954 9469755 Ypter-p11.2 Yp11.2 480100 TSPY1, TSPY Testis-specific protein, Y-linked, 1 TSPY1 7258 ENSG00000258992
chrY 10400000 26600000 Yq11 400042 DELYq11, CYDELq11, SPGFY1 Chromosome Yq11 interstitial deletion syndrome contiguous gene deletion syndrome Spermatogenic failure, Y-linked, 1, 400042 (4)
chrY 10400000 57227415 Yq 425500 HEY Hairy ears, Y-linked 100188776 ?Hairy ears, Y-linked, 425500 (2), Y-linked
chrY 10600000 26600000 Yq11.2 400032 CYorf15B Chromosome Y open reading frame 15B
chrY 12701230 12860842 Yq11.2 Yq11.221 400005 USP9Y, DFFRY, SPGFY2 Ubiquitin-specific protease-9, Y chromosome (Drosophila fat facets related, Y-linked) USP9Y 8287 ENSG00000114374 Spermatogenic failure, Y-linked, 2, 415000 (3), Y-linked Usp9y (MGI:1313274)
chrY 12903998 12920477 Yq11 Yq11.221 400010 DDX3Y, DBY DEAD/H box-3, Y-linked DDX3Y 8653 ENSG00000067048 Ddx3y (MGI:1349406)
chrY 13231826 13480669 Yq11 Yq11.221 400009 UTY Ubiquitously transcribed TPR gene on Y chromosome UTY 7404 ENSG00000183878
chrY 13703566 13706023 Yq11.221 Yq11.221 400017 TMSB4Y Thymosin, beta-4, Y chromosome TMSB4Y 9087 ENSG00000154620
chrY 13985771 13986511 Yq11.221 Yq11.221 400012 VCY, BPY1 Variably charged, Y chromosome VCY 9084 ENSG00000129864
chrY 14522577 14845646 Yq11.2 Yq11.221 400028 NLGN4Y, KIAA0951 Neuroligin 4, Y-linked NLGN4Y 22829 ENSG00000165246
chrY 17768979 17770559 Yq11.222 Yq11.222 400015 XKRY XK-related protein on Y chromosome XKRY 9082 ENSG00000250868
chrY 18025786 18027745 Yq11.221 Yq11.222 400018 CDY2 Chromodomain protein, Y chromosome, 2 CDY2A 9426 ENSG00000182415
chrY 18529677 18588962 Yq11.2 Yq11.222 400029 HSFY Heat shock transcription factor, Y-linked HSFY1 86614 ENSG00000172468 Hsfy2 (MGI:1918316)
chrY 19567357 19607169 Yq11.2 Yq11.222-q11.223 400031 CYorf15A Chromosome Y open reading frame 15A TXLNGY 246126
chrY 19705414 19745340 Yq11 Yq11.223 426000 KDM5D, JARID1D, SMCY, HYA Lysine-specific demethylase 5D KDM5D 8284 ENSG00000012817 encodes H-Y epitope in mouse Kdm5d (MGI:99780)
chrY 20575710 20593153 Yq11.223 Yq11.223 400014 EIF1AY Eukaryotic translation initiation factor 1A, Y isoform EIF1AY 9086 ENSG00000198692 Eif1ax (MGI:1913485)
chrY 20756067 20781031 Yq11.2 Yq11.223 400030 RPS4Y2 Ribosomal protein S4, Y-linked RPS4Y2 140032 ENSG00000280969
chrY 21534878 21559682 Yq11 Yq11.223 400006 RBMY1A1, RBM1, YRRM1, RBM2 RNA binding motif protein, Y chromosome, family 1, member A1 RBMY1A1 5940 ENSG00000234414
chrY 22071755 22096006 Yq11.2 Yq11.223 400041 PRY2 PTPBL-related gene on Y, 2 PRY2 442862 ENSG00000169807
chrY 22296797 22298875 Yq11.223 Yq11.223 400038 TTTY5 Testis-specific transcript, Y-linked, 5 TTTY5 83863
chrY 22439592 22441458 Yq11.223 Yq11.223 400039 TTTY6 Testis-specific transcript, Y-linked, 6 TTTY6 84672
chrY 22490290 22516302 Yq11.223 Yq11.223 400019 PRY PTPN13-like, Y-linked PRY 9081 ENSG00000169789
chrY 22851583 22852714 Yq11.223 Yq11.223 400040 TTY17 Testis-specific transcript, Y-linked, 17 TTTY17A 252949
chrY 22936454 22973283 Yq11.223 Yq11.223 400037 TTTY4 Testis-specific transcript, Y-linked, 4 TTTY4 114761
chrY 22984262 23005464 Yq Yq11.223 400013 BPY2 Basic protein on Y chromosome, 2 BPY2 9083 ENSG00000183753
chrY 23129354 23199116 Yq11 Yq11.223 400003 DAZ Deleted in azoospermia DAZ1 1617 ENSG00000188120 ?same as AZF ?Sertoli-cell-only syndrome (1)
chrY 23219456 23291355 Yq11.2 Yq11.223 400026 DAZ2 Deleted in azoospermia 2 DAZ2 57055 ENSG00000205944 Dazl (MGI:1342328)
chrY 24209966 24214830 Yq11.23 Yq11.23 400035 GOLGA2LY Golgi autoantigen, golgin subfamily A, 2-like, Y-linked GOLGA2P2Y 84559
chrY 24763068 24813491 Yq11.2 Yq11.23 400027 DAZ3 Deleted in azoospermia 3 DAZ3 57054 ENSG00000187191
chrY 25482907 25486704 Yq11.23 Yq11.23 400034 CSPG4P1Y, CSPG4LY Chondroitin sulfate proteoglycan 4 pseudogene 1, Y-linked CSPG4P1Y 114758
chrY 25622094 25625510 Yq11.23 Yq11.23 400016 CDY1, CDY Chromodomain protein, Y chromosome CDY1 9085 ENSG00000172288
chrY 25728489 25733387 Yq11.23 Yq11.23 400036 TTTY3 Testis-specific transcript, Y-linked, 3 TTTY3 114760
chrY 26600000 57227415 Yq12 475000 GCY, TSY, STA Growth control, Y-chromosome influenced GCY 2656
chrY 0 57227415 Chr.Y 400043 DFNY1 Deafness, Y-linked 1 DFNY1 724074 Deafness, Y-linked 1 (1)
chrY 0 57227415 Chr.Y 400004 RPY Retinitis pigmentosa, Y-linked 79051 Retinitis pigmentosa, Y-linked, 400004 (2), Y-linked
#
#
#
#
# Source of data in fields are as follows:
# -------------------------------
#
# Chromosome (NCBI)
# Genomic position start * (NCBI)
# Genomic position end (NCBI)
# Cyto location (OMIM)
# Computed cyto location (UCSC)
# MIM Number for Gene/Locus (OMIM)
# Gene symbols (OMIM)
# Gene name (OMIM)
# Approved gene symbol (HGNC)
# Entrez gene ID (NCBI)
# Ensembl gene ID (Ensembl)
# Comments (OMIM)
# Phenotype(s) (OMIM)
# Mouse gene symbol & ID (MGI)
#
# * for phenotypes with mapping key of (2) or genes not found in NCBI
# data, genomic coordinates are derived from OMIM's cyto location mapped
# to genomic using UCSC table.
#
#
# OMIM Phenotype field is nested:
# -------------------------------
#
# Each Phenotype is followed by its MIM number, if different from
# that of the locus, preceded by a comma
# Phenotype mapping key in parentheses follows the phenotype MIM
# number (explanation below).
# Allelic disorders are separated by a semi-colon following the
# phenotype mapping key.
# Inheritance for the phenotype follows the phenotype mapping key
# preceded by a ,<space>
#
#
# Phenotype Mapping Method - Appears in parentheses after a disorder :
# --------------------------------------------------------------------
# 1 - the disorder is placed on the map based on its association with
# a gene, but the underlying defect is not known.
# 2 - the disorder has been placed on the map by linkage; no mutation has
# been found.
# 3 - the molecular basis for the disorder is known; a mutation has been
# found in the gene.
# 4 - a contiguous gene deletion or duplication syndrome, multiple genes
# are deleted or duplicated causing the phenotype.
#