genemap.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
# Sort Month Day Year Cyto Location Gene Symbols Confidence Gene Name MIM Number Mapping Method Comments Phenotypes Mouse Gene Symbol
1.1 5 13 13 1pter-p36.13 CTRCT8, CCV P Cataract, congenital, Volkmann type 115665 Fd linked to Rh in Scottish family Cataract 8, multiple types (2)
1.2 9 25 01 1p36.23 ENO1, PPH, MPB1 C Enolase-1, alpha 172430 S, F, R, REa Enolase deficiency (1) 4(Eno1)
1.3 12 22 87 1pter-p36 ERPL1, HLM2 C Endogenous retroviral pol gene-like sequence 1 (oncogene HLM2) 131190 REa, F
1.4 4 14 11 1p36.11 HMGCL P 3-hydroxy-3-methylglutaryl-Coenzyme A lyase 613898 REa, A HMG-CoA lyase deficiency, 246450 (3) 4(Hmgcl)
1.5 4 30 15 1p36.33 AGRN, CMS8 P Agrin 103320 REa Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3) 4(Agrn)
1.6 6 24 16 1p36.33 GNB1, MRD42 C Guanine nucleotide-binding protein, beta polypeptide-1 139380 REa, A Mental retardation, autosomal dominant 42, 616973 (3); Leukemia, acute lymphoblastic, somatic, 613065 (3) 4(Gnb1)
1.7 10 2 07 1p35.2 SDC3, SYND3, SDCN C Syndecan 3 186357 REc, R, H {Obesity, association with}, 601665 (3) 4(Synd3)
1.8 8 28 98 1pter-p22.1 SAI1, MTS1, TFS1 C Suppression of anchorage independence-1 (malignant transformation suppression-1) 154280 S, H 4(Tfs1)
1.9 12 6 16 1p36.33 ATAD3A, HAYOS P ATPase family, AAA domain-containing, member 3A 612316 REc one family with AR inheritance reported Harel-Yoon syndrome, 617183 (3) 4(Atad3)
1.10 10 6 08 1p36.33 ATAD3B, TOB3, KIAA1273 C ATPase family, AAA domain-containing, member 3B 612317 R, REc
1.11 11 29 16 1p36.33 ATAD3C P ATPase family, AAA domain-containing, member 3C 617227 REc
1.12 5 6 13 1p36.33 C1orf86, FAAP20 P Chromosome 1 open reading frame 86 615183 REc
1.13 7 3 06 1p36.33 CALML6, CAGLP P Calmodulin-like 6 610171 REc
1.14 9 30 10 1p36.33 CCNL2 P Cyclin L2 613482 REc 4(Ccnl2)
1.15 3 23 14 1p36.33 CPSF3L, INTS11, RC68 P Cleavage and polyadenylation-specific factor 3-like 611354 REc
1.16 10 13 15 1p36.33 FAM132A, C1QDC2, C1QTNF12 P Family with sequence similarity 132, member A 616593 REc
1.17 11 1 13 1p36.33 GLTPD1, CPTP P Glycolipid transfer protein domain-containing protein 1 615467 REc
1.18 12 19 14 1p36.33 ISG15, G1P2, IFI15, IMD38 P ISG15 ubiquitin-like modifier 147571 REa, REc Immunodeficiency 38, 616126 (3)
1.19 3 23 09 1p36.33 MIR200A, MIRN200A P Micro RNA 200A 612090 REc
1.20 3 23 09 1p36.33 MIR200B, MIRN200B P Micro RNA 200B 612091 REc
1.21 3 23 09 1p36.33 MIR429, MIRN429 P Micro RNA 429 612094 REc
1.22 1 9 17 1p36.33 MXRA8, ASP3 P Matrix remodeling-associated protein 8 617293 REc 4(Mxra8)
1.23 2 20 07 1p36.33 NOC2L, NIR P Nucleolar complex-associated protein 2, S. cerevisiae, homolog of 610770 REc
1.24 8 18 14 1p36.33 PERM1, C1orf170 P PPARGC1-and ESRR-induced regulator, muscle, 1 615921 REc
1.25 1 21 16 1p36.33 SAMD11, MRS P Sterile alpha motif domain-containing protein 11 616765 REc
1.26 10 10 11 1p36.33 SDF4, CAB45 P Stromal cell-derived factor 4 614282 REc
1.27 9 21 17 1p36.33 SSU72 C Ssu72, S. cerevisiae, homolof of 617680 REc, H 4(Ssu72)
1.28 4 24 01 1p36.33 TAS1R3, T1R3 C Taste receptor type 1, member 3 605865 REn, REc 4(Tas1r3)
1.29 12 2 14 1p36.33 TMEM240, C1orf70, SCA21 C Transmembrane protein 240 616101 REc, Fd Spinocerebellar ataxia 21, 607454 (3)
1.30 10 27 89 1p36.23 CA6 C Carbonic anhydrase VI 114780 REa, A, REc, R
1.31 2 18 08 1p36.33 NADK P NAD kinase 611616 REc
1.32 4 4 16 1p36.23 PER3, FASPS3 P Period, Drosophila, homolog of, 3 603427 REc mutation identified in 1 FASPS3 family ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
1.33 7 18 06 1p36.32 ACTRT2, ARPT2, ARPM2 P Actin-related protein T2 608535 REc
1.34 5 21 07 1p36.32 AJAP1, SHREW1 P Adherens junction-associated protein 1 610972 R, REc
1.35 2 2 16 1p36.32 CEP104, GLYBP, KIAA0562, JBTS25 C Centrosomal protein, 104kD 616690 R, REc Joubert syndrome 25, 616781 (3)
1.36 8 29 13 1p36.33 MIB2 C Mindbomb, Drosophila, homolog of, 2 611141 A, REc
1.37 4 8 13 1p36.32 MIR551A P Micro RNA 551A 615148 REc
1.38 10 25 12 1p36.32 PEX10, NALD, PBD6A, PBD6B C Peroxisome biogenesis factor 10 602859 REc Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3); Peroxisome biogenesis disorder 6B, 614871 (3)
1.39 7 9 09 1p36.32 PLCH2, PLCL4 P Phospholipase C, eta-2 612836 REc
1.40 8 27 15 1p36.32 TPRG1L, FAM79A P Tumor protein p63 regulated 1-like 611460 R, REc
1.41 4 8 03 1p36.32-p36.13 DYT13 P Dystonia 13, torsion 607671 Fd Dystonia 13, torsion (2)
1.42 4 16 11 1p36.32-p35.3 KONDS P Kondoh syndrome (mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism) 606242 Fd linked to rs966321 and rs1441834 Kondoh syndrome (2)
1.43 10 5 11 1p36.31 GPR153 P G protein-coupled receptor 153 614269 REc 4(Gpr153)
1.44 3 24 06 1p36.31 HES2 P Hairy/enhancer of split, Drosophila, homolog of, 2 609970 REc
1.45 3 24 06 1p36.31 HES3 P Hairy/enhancer of split, Drosophila, homolog of, 3 609971 REc
1.46 3 24 06 1p36.33 HES4 P Hairy/enhancer of split, Drosophila, homolog of, 4 608060 REc
1.47 3 24 06 1p36.32 HES5 P Hairy/enhancer of split, Drosophila, homolog of, 5 607348 REc
1.48 3 12 15 1p36.31 KLHL21, KIAA0469 C Kelch-like 21 616262 R, REc
1.49 4 27 16 1p36.31 RNF207, C1orf188 P RING finger protein 207 616923 REc
1.50 1 20 09 1p36.31 THAP3 P THAP domain-containing protein 3 612532 REc
1.51 11 4 93 1p36.31 RPL22, EAP C Ribosomal protein L22 180474 Ch, REc fused with AML1 in t(3;21)
1.52 9 18 12 1p36.31 DNAJC11 P DNAJ/HSP40 homolog, subfamily C, member 11 614827 REc
1.53 1 5 12 1p36.31-p36.13 DFNB96 P Deafness, autosomal recessive 96 614414 Fd between rs3817914 and rs477558 Deafness, autosomal recessive 96 (2)
1.54 8 18 12 1p36.33 AURKAIP1, AKIP, AIP P Aurora kinase A-interacting protein 1 609183 R, REc
1.55 12 22 17 1p36.33 B3GALT6, SEMDJL1, EDSSPD2 P UDP-Gal:beta-Gal beta-1,3-galactosyltransferase polypeptide 6 615291 REc Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3); Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3) 4(B3galt6)
1.56 1 27 11 1p36.33 CDK11B, CDC2L1, P58, CDK11 C Cyclin-dependent kinase 11B 176873 REa, A, Pcm, A
1.57 1 27 11 1p36.33 CDK11A, CDC2L2 P Cyclin-dependent kinase 11A 116951 A
1.58 8 4 99 1p36.32 DFFB, CAD, DFF2 C DNA fragmentation factor, 40kD, beta subunit 601883 A
1.59 9 11 12 1p36.33 GABRD, GEFSP5, EIG10, EJM7 C Gamma-aminobutyric acid (GABA) A receptor, delta 137163 REa, R, REc {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3); {Epilepsy, idiopathic generalized, 10}, 613060 (3); {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3)
1.60 12 24 08 1p36.32 MEGF6, EGFL3 P Multiple epidermal growth factor-like domains 6 604266 R
1.61 6 15 99 1p36.33 TNFRSF18, AITR, GITR P Tumor necrosis factor receptor superfamily, member 18 603905 R
1.62 3 30 99 1p36.31 KCNAB2, KCNA2B P Potassium voltage-gated channel, shaker-related subfamily, beta member 2 601142 A
1.63 11 1 99 1p36.33 MMP23A, MMP21, MIFR P Matrix metalloproteinase 23A 603320 REc
1.64 11 1 99 1p36.33 MMP23B, MMP22 P Matrix metalloproteinase 23B 603321 REc
1.65 1 12 11 1p36.22 MTHFR P Methylenetetrahydrofolate reductase 607093 A Homocystinuria due to MTHFR deficiency, 236250 (3); {Schizophrenia, susceptibility to}, 181500 (3); {Vascular disease, susceptibility to} (3); {Neural tube defects, susceptibility to}, 601634 (3); {Thromboembolism, susceptibility to}, 188050 (3) 4(Mthfr)
1.66 9 9 13 1p36.32 PRDM16, MEL1, LVNC8, CMD1LL P PR domain-containing protein 16 605557 REc, Ch Left ventricular noncompaction 8, 615373 (3); Cardiomyopathy, dilated, 1LL, 615373 (3)
1.67 8 9 99 1p36.3 PTPRZ2 P Protein-tyrosine phosphatase, receptor-type, zeta-2 604008 A
1.68 1 20 98 1p36.13 RNU1A, RNU1 C RNA, U1A small nuclear 180680 REa, A ?same as A12M2 3(Rnu1b1)
1.69 10 5 12 1p36.33-p36.32 SKI, SGS C Avian sarcoma viral (v-ski) oncogene homolog 164780 REa, A, Ch formerly mapped to 1q22-q24 Shprintzen-Goldberg syndrome, 182212 (3)
1.70 12 23 02 1p36.31 TNFRSF25, TNFRSF12, DR3, LARD C Tumor necrosis factor receptor superfamily, member 25 603366 A, Ch
1.71 9 28 10 1p36.22 UBE4B, UFD2A, KIAA0684 P Ubiquitination factor E4B 613565 REc
1.72 4 6 13 1p36.22 UBIAD1, TERE1, SCCD C UbiA prenyltransferase domain-containing protein 1 611632 A, Fd Corneal dystrophy, Schnyder type, 121800 (3)
1.73 3 20 08 1p36.33 VWA1, WARP P von Willebrand factor A domain-containing protein 1 611901 REc
1.74 6 20 01 1p36.32 WDR8 P WD repeat-containing protein 8 606040 A
1.75 11 22 13 1p36.31 ZBTB48, HKR3 C Zinc finger- and BTB domain-containing protein 48 165270 REa, A
1.76 2 6 94 1p36.12 HTR1D C 5-hydroxytryptamine (serotonin) receptor-1D 182133 REa, A 4(Htr1d)
1.77 6 10 98 1p36.22 DFFA, DFF1 C DNA fragmentation factor, 45kD, alpha subunit 601882 A
1.78 3 10 11 1p36.22 MASP2 P Mannan-binding lectin serine protease 2 605102 A, R MASP2 deficiency, 613791 (3)
1.79 12 22 17 1p36.22 PLOD1, LH1, LLH, EDSKCL1 P Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 153454 REa, A Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3) 4(Plod)
1.80 9 15 96 1p36.33 SCNN1D P Sodium channel, voltage-gated, type I, delta polypeptide 601328 A
1.81 12 18 98 1p36.22 TNFRSF1B, TNFR2, TNFBR C Tumor necrosis factor receptor superfamily, member 1B 191191 REa, A, Fd 4(Tnfr1)
1.82 12 14 98 1p36.32 TNFRSF14, HVEM, TR2 P Tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) 602746 A
1.83 1 11 07 1p36.21 CASP9, APAF3 P Caspase 9, apoptosis-related cysteine protease 602234 A
1.84 3 16 06 1p36.31 ESPN P Espin, mouse, homolog of 606351 R, H Deafness, autosomal recessive 36, 609006 (3); Deafness, neurosensory, without vestibular involvement, autosomal dominant (3) 4(espn)
1.85 2 28 08 1p36.33 MRPL20 P Mitochondrial ribosomal protein L20 611833 R
1.86 2 17 11 1p36.12 C1QA C Complement component 1, q subcomponent, A chain 120550 REa, REb C1q deficiency, 613652 (3)
1.87 2 17 11 1p36.12 C1QB C Complement component 1, q subcomponent, B chain 120570 REa, REb C1q deficiency, 613652 (3) (C1qb)
1.88 2 17 11 1p36.12 C1QC, C1QG P Complement component 1, q subcomponent, C chain 120575 REn, REb C1q deficiency, 613652 (3)
1.89 9 9 08 1p36.13 FBXO42, FBX42, KIAA1332 P F-box only protein 42 609109 REc 4(Fbox42)
1.90 9 9 08 1p36.22 FBXO6, FBX6, FBG2 C F-box only protein 6 605647 REc 4(Fbxo6)
1.91 1 8 07 1p36.13 HSPB7, CVHSP P Heat-shock 27kD protein 7 610692 REc
1.92 7 18 14 1p36.23 UTS2 P Urotensin II 604097 REc
1.93 12 30 04 1p36.22 APITD1 P Apoptosis-inducing, TAF9-like domain 1 609130 REa, REc
1.94 7 17 09 1p36.22 CTNNBIP1, ICAT P Catenin, beta-interacting protein 1 607758 R, REc
1.95 3 20 09 1p36.22 DRAXIN, C1orf187 P Dorsal repulsive axon guidance protein 612682 REc
1.96 7 27 09 1p36.22 EXOSC10, PMSCL2 P Exosome component 10 605960 R, REc
1.97 5 24 13 1p36.22 LZIC P Leucine zipper and CTNNBIP1 domains-containing protein 610458 REc
1.98 9 25 12 1p36.22 NMNAT1, NMNAT, PNAT1, LCA9 C Nicotinamide nucleotide adenylyltransferase 1 608700 REc Leber congenital amaurosis 9, 608553 (3)
1.99 9 9 08 1p36.22 PTCHD2, DISP3, KIAA1337 P Patched domain-containing protein 2 611251 REc
1.100 2 28 07 1p36.22 SLC25A33 P Solute carrier family 25 (mitochondrial carrier), member 33 610816 REc 4(Slc25A33)
1.101 12 18 07 1p36.22 SPSB, SSB1 P SPRY domain- and SOCS box-containing 1 611657 R, REc
1.102 9 22 08 1p36.22 CASZ1, SRG P Castor zinc finger protein 1 609895 A, REc 4(Srg)
1.103 3 5 18 1p36.21 AGMAT, AUH C Agmatinase 617887 REc
1.104 2 11 08 1p36.21 CTRC, CLCR P Chymotrypsin 601405 REc {Pancreatitis, chronic, susceptibility to}, 167800 (3)
1.105 7 20 15 1p36.21 EFHD2, SWS1 P EF-hand domain family, member D2 616450 REc
1.106 9 9 08 1p36.22 FBXO44, FBX44, FBX6A, FBG3 C F-box only protein 44 609111 REc 4(Fbxo44)
1.107 2 28 06 1p36.21 GBD2 P Gallbladder disease 2 609918 Fd between D1S1597 and D1S47 Gallbladder disease 2 (2)
1.108 5 6 13 1p36.21 LRRC38 P Leucine-rich repeat-containing protein 38 615212 REc
1.109 12 10 13 1p36.21 PDPN, TI1A, T1A2, GP36, OTS8, AGGRUS P Podoplanin 608863 REc, R
1.110 7 8 16 1p36.21 PLEKHM2, SKIP, KIAA0842 P Pleckstrin homology domain-containing protein, family M, member 2 609613 REc
1.111 3 12 07 1p36.21 SLC25A34 P Solute carrier family 25, member 34 610817 REc 4(Slc25A34)
1.112 9 2 12 1p36.21 CELA2A, ELA2A P Chymotrypsin-like elastase family, member 2A 609443 REc, R
1.113 9 2 12 1p36.21 CELA2B, ELA2B P Chymotrypsin-like elastase family, member 2B 609444 REc
1.114 3 31 15 1p36.22 KIF1B, CMT2A, CMT2A1, NBLST1 C Kinesin family member 1B 605995 Fd, REc, D mutation identified in 1 CMT2A1 family ?Charcot-Marie-Tooth disease, type 2A1, 118210 (3); Pheochromocytoma, 171300 (3); {Neuroblastoma, susceptibility to, 1}, 256700 (3) 4(Kif1b)
1.115 8 30 16 1p36.22 MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B C Mitofusin 2 608507 R, REa, REc Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3); Hereditary motor and sensory neuropathy VIA, 601152 (3); Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3)
1.116 4 20 17 1p36.22 MTOR, FRAP1, SKS P Mechanistic target of rapamycin 601231 R, A Smith-Kingsmore syndrome, 616638 (3); Focal cortical dysplasia, type II, somatic, 607341 (3)
1.117 7 8 09 1p36.13 NBPF1, KIAA1693 P Neuroblastoma breakpoint family, member 1 610501 R, REc pseudogenes on 3 and 5
1.118 9 15 11 1p36.12 NBPF3 P Neuroblastoma breakpoint family, member 3 612992 REc, A
1.119 4 29 14 1p36.22 NPPA, PND, ANP, ATFB6, ATRST2 C Natriuretic peptide precursor A 108780 REa, A, H Atrial fibrillation, familial, 6, 612201 (3); Atrial standstill 2, 615745 (3) 4(Pnd)
1.120 5 9 95 1p36.22 NPPB, BNP C Natriuretic peptide precursor B 600295 H, REa, A, REn 4(Nppb)
1.121 10 25 12 1p36.22 PEX14, PBD13A P Peroxisome biogenesis factor 14 601791 R, REc Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3)
1.122 5 23 14 1p36.22 PIK3CD, APDS, IMD14 P Phosphatidylinositol 3-kinase, catalytic, 110kD, delta 602839 A, R Immunodeficiency 14, 615513 (3)
1.123 3 12 08 1p36.2 SCZD12 P Schizophrenia 12 608543 Fd max lod at D1S1612 {Schizophrenia 12}, 181500 (2)
1.124 8 4 99 1p36.23 SLC2A5, GLUT5 C Solute carrier family 2 (facilitated glucose transporter), member 5 138230 REa, A, REc, R
1.125 10 11 06 1p36.23 SLC2A7, GLUT7 P Solute carrier family 2 (facilitated glucose transporter), member 7 610371 REc
1.126 10 5 10 1p36.22 TARDBP, TDP43, ALS10 C TAR DNA-binding protein 605078 R, REc pseudogenes on 2, 6, 8, 13, 20 Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3); Frontotemporal lobar degeneration, TARDBP-related, 612069 (3) 4(Tardbp)
1.127 4 10 90 1p36.22 PGD C 6-phosphogluconate dehydrogenase 172200 F, S 4(Pgd)
1.128 3 16 10 1p36.13 PAX7, RMS2 C Paired box homeotic gene-7 167410 Psh, H, REa, A fused with FKHR in rhabdomyosarcoma Rhabdomyosarcoma 2, alveolar, 268220 (3) 4(Pax7)
1.129 3 24 88 1p35.3 FGR, SRC2 P Oncogene FGR 164940 A, REb, REa, Fd same as SRC2 4(Fgr)
1.130 9 22 97 1p36.2-p36.1 GLC3B P Glaucoma 3, primary infantile, B 600975 Fd Glaucoma 3, primary infantile, B (2)
1.131 6 17 16 1p36.23 RERE, NEDBEH P RE repeats-encoding gene 605226 REc, Ch Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3)
1.132 6 28 17 1p36.23 SLC45A1, DNB5, IDDNPF P Solute carrier family 45, member 1 605763 REc Intellectual developmental disorder with neuropsychiatric features, 617532 (3)
1.133 10 3 11 1p36.13 ZBTB17, ZNF151, MIZ1 P Zinc finger- and BTB domain-containing protein 17 604084 A
1.134 1 1 95 1p36.12 CDA C Cytidine deaminase 123920 A, Psh
1.135 2 19 08 1p35.3 EPB41, EL1 C Erythrocyte surface protein band 4.1 130500 F, REb Elliptocytosis-1, 611804 (3) 4(Elp1)
1.136 5 4 12 1p36.11 RHCE C Rhesus system C and E polypeptides 111700 F, D, Fd ?order: C-E-D [Blood group, Rhesus], 111690 (3); Rh-null disease, amorph type (3)
1.137 5 25 05 1p36.11 RHD C Rhesus system D polypeptide 111680 F, D, Fd [Rh-negative blood type] (3)
1.138 5 23 12 1p36.13 AKR7A2, AKR7, AFAR P Aldo-keto reductase family 7, member A2 603418 REn pseudogenes on Xq25 and 1p12
1.139 8 8 13 1p36.13 AKR7A3, AFAR2 P Aldo-keto reductase family 7, member A3 608477 REc, A
1.140 8 8 13 1p36.13 AKR7A4, AFAR3 P Aldo-keto reductase family 7, member A4 608478 REc, A
1.141 12 22 08 1p36.13 ARHGEF10L, GRINCHGEF, KIAA1626 P RHO guanine nucleotide exchange factor 10-like protein 612494 REc
1.142 12 22 08 1p36.13 ARHGEF19, WGEF P RHO guanine nucleotide exchange factor 19 612496 REc 4(Arhgef19)
1.143 10 13 15 1p36.12 ASAP3, UPLC1, CENTB6, DDEFL1, ACAP4 P ARF GTPase-activating protein with SH3 domain, ankyrin repeat, and PH domain 3 616594 REc
1.144 3 30 16 1p36.13 EMC1, KIAA0090, CAVIPMR P Endoplasmic reticulum membrane protein complex, subunit 1 616846 Psh Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3)
1.145 7 17 09 1p36.21 FBLP1, MIGFILIN P Filamin-binding LIM protein 1 607747 REc
1.146 9 28 15 1p36.13 MINOS1, MIO10, MIC10 P Mitochondrial inner membrane organizing system protein 1 616574 REc
1.147 2 18 08 1p36.13 NECAP2 P NECAP endocytosis-associated protein 2 611624 R, REc
1.148 1 28 08 1p36.13 OTUD3, KIAA0459 P OTU domain-containing protein 3 611758 R, REc
1.149 1 16 07 1p36.13 PADI1 C Peptidylarginine deiminase, type I 607934 REc, REn
1.150 1 16 07 1p36.13 PADI2 C Peptidylarginine deiminase, type II 607935 REc, REn
1.151 12 22 16 1p36.13 PADI3, UHS1 P Peptidylarginine deiminase, type III 606755 REc, REn Uncombable hair syndrome, 191480 (3)
1.152 1 16 07 1p36.13 PADI4, PADI5, PAD C Peptidylarginine deiminase, type IV 605347 REc, REn {Rheumatoid arthritis, susceptibility to}, 180300 (3)
1.153 12 6 16 1p36.13 PADI6, PREMBL2 C Peptidylarginine deiminase, type VI 610363 REn Preimplantation embryonic lethality 2, 617234 (3)
1.154 8 21 12 1p36.13 PQLC2 P PQ loop repeat-containing protein 2 614760 REc
1.155 10 25 16 1p36.13 RNF186 P Ring finger protein 186 617163 REc
1.156 1 25 18 1p13.3 SLC25A24, SCAMC1 P Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24 608744 REc, H Fontaine progeroid syndrome, 612289 (3) 2(Slc25a24)
1.157 9 30 10 1p36.21-p36.13 SPEN, MINT, SHARP, HIAA0929 P SPEN, Drosophila, homolog of 613484 REc
1.158 7 22 14 1p36.13 UBR4, ZUBR1, RBAF600, KIAA1307 P Ubiquitin protein ligase E3 component n-recognin 4 609890 R, REc
1.159 9 22 08 1q21.2 APH1A P Anterior pharynx defective 1, C. elegans, homolog of, A 607629 R, REc
1.160 1 11 95 1p36.12 ID3 C Inhibitor of DNA binding 3, dominant negative, helix-loop-helix protein 600277 RE, A
1.161 10 24 97 1p36.13 D1S1733E, DAN P Differential-screening-selected gene aberrant in neuroblastoma 600613 A aberrant in some neuroblastomas 4(D4H1S1733E)
1.162 1 29 16 1p36.11 MAN1C1 P Mannosidase, alpha, class 1C, member 1 616772 REc
1.163 1 3 05 1p36.13-p34.3 ANIB3 P Aneurysm, intracranial berry, 3 609122 Fd Aneurysm, intracranial berry, 3 (2)
1.164 10 24 14 1p36.13-p34.3 EA8 P Episodic ataxia, type 8 616055 Fd between rs2743201 and rs215791 Episodic ataxia, type 8 (2)
1.165 8 23 09 1p36.12 B6QTL1 P Vitamin B6 plasma level QTL 1 612957 Fd associated with rs4654748 {Vitamin B6 plasma level QTL 1} (2)
1.166 1 9 13 1p36.12 CAMK2N1 P Calcium/calmodulin-dependent protein kinase II inhibitor 1 614986 REc
1.167 8 18 14 1p36.12 EIF4G3, EIF4GII P Eukaryotic translation initiation factor 4-gamma, 3 603929 REc
1.168 7 17 09 1p36.12 EPHA8, EEK, HEK3 P Ephrin receptor EphA8 (eph- and elk-related kinase) 176945 REa, REc
1.169 11 3 14 1p36.12 HP1BP3, HP1BP74 P Heterochromatin protein 1-binding protein 3 616072 REc
1.170 3 3 16 1p36.12 KDM1A, LSD1, AOF2, BHC110, KIAA0601, CPRF P Lysine-specific demethylase 1A 609132 R, REc Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (3)
1.171 7 20 12 1p36.12 KIF17, KIAA1405 P Kinesin family member 17 605037 REc
1.172 4 27 09 1p36.12 MUL1, MULAN, C1orf166 P Mitochondrial ubiquitin ligase activator of NFKB1 612037 REc
1.173 3 1 01 1p36.12 PLA2G2D, SPLASH C Phospholipase A2, group IID 605630 R 4(Pla2g2d)
1.174 5 25 13 1p36.12 TCEA3 P Transcription elongation factor A, 3 604128 REc
1.175 2 2 16 1p36.12 UBXN10 P UBX domain protein 10 616783 REc
1.176 4 5 11 1p36.12-p35.1 BFIS4, BFIC4 P Seizures, benign familial infantile, 4 612627 Fd between D1S2864 and D1S2830 Seizures, benign familial infantile, 4 (2)
1.177 7 7 14 1p36.1-p35.3 AHDC1, MRD25 P AT-hook DNA-binding motif-containing protein 1 615790 REc Xia-Gibbs syndrome, 615829 (3)
1.178 7 20 12 1p36.11 CD52, CDW52 P CD52 molecule 114280 REc
1.179 2 25 15 1p36.11 CNKSR1, CNK1 P Connector enhancer of KSR 1 603272 R, REc
1.180 6 22 14 1p36.13 CROCC, ROOTLETIN, KIAA0445 P Ciliary rootlet coiled-coil protein 615776 REc
1.181 1 23 18 1p36.11 DHDDS, HDS, RP59, DEDSM P Dehydrodolichyl diphosphate synthase 608172 REc mutation identified in 1 CDG1BB patient Retinitis pigmentosa 59, 613861 (3); Developmental delay and seizures with or without movement abnormalities, 617836 (3); ?Congenital disorder of glycosylation, type 1bb, 613861 (3)
1.182 4 6 11 1p36.11 FCN3, HAKA1 P Ficolin 3 604973 R, REc Immunodeficiency due to ficolin 3 deficiency, 613860 (3)
1.183 5 19 17 1p36.11 GPATCH3 P G-patch domain-containing protein 3 617486 REc
1.184 3 11 14 1p36.11 GRHL3, SOM, TFCP2L4, VWS2 C Grainyhead-like 3 608317 REc, Fd Van der Woude syndrome 2, 606713 (3)
1.185 10 7 02 1p36.12 HNRPR, HNRNPR P Heterogeneous nuclear ribonucleoprotein R 607201 R
1.186 2 11 13 1p36.11 IFNLR1, IL28RA P Interferon, lambda receptor 1 607404 REc
1.187 4 27 09 1p36.11 LIN28, LIN28A P Lin28, C. elegans, homolog of 611043 REc, H 4(Lin28)
1.188 12 30 14 1p36.11 LYPLA2, APT2 P Lysophospholipase II 616143 REc
1.189 2 8 12 1p36.11 MAP3K6, MAPKKK6, ASK2 P Mitogen-activated protein kinase kinase kinase 6 604468 REc
1.190 2 23 16 1p36.11 MYOM3 P Myomesin 3 616832 REc 4(Myom3)
1.191 8 19 13 1p36.11 NUDC P Nuclear distribution gene C, A. nigulans, homolog of 610325 REc, A
1.192 4 29 14 1p36.11 PAFAH2 P Platelet-activating factor acetylhydrolase 2 602344 REc
1.193 7 17 09 1p36.11 PAQR7, MPRA, PGLP P Progestin and ADIPOQ receptor family, member 7 607779 REc
1.194 8 20 12 1p36.11 PIGV, HPMRS1 P Phosphatidylinositol glycan, class V 610274 REc Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)
1.195 3 11 08 1p36.11 PNRC2 P Proline-rich nuclear receptor coactivator 2 611882 REc
1.196 7 19 12 1p36.11 SFN P Stratifin 601290 REc
1.197 3 7 14 1p36.11 SH3BGRL3 C SH3 domain-binding glutamic acid-rich protein-like protein 3 615679 REc, A
1.198 1 17 13 1p36.11 SLC30A2, ZNT2, TNZD P Solute carrier family 30 (zinc transporter), member 2 609617 REc Zinc deficiency, transient neonatal, 608118 (3) 4(Slc30a2)
1.199 7 27 09 1p36.11 SRRM1, SRM160 P Serine/arginine repetitive matrix 1 (ser/arg-related nuclear matrix protein, 160kD) 605975 R, REc
1.200 7 18 14 1p36.11 STPG1, MAPO2, C1orf201 P Sperm-tail PG-rich repeat-containing protein 1 615826 REc 4(Stpg1)
1.201 7 17 09 1p36.11 SYF2, P29 P SYF2 RNA splicing factor, S. cerevisiae, homolog of 607090 R, REc
1.202 2 14 08 1p36.11 SYTL1, SLP1, JFC1 P Synaptotagmin-like protein 1 608042 R, REc
1.203 6 22 14 1p36.11 TMEM50A, SMP1 P Transmembrane protein 50A 605348 REc between RHD and RHCE
1.204 5 24 13 1p36.11 TMEM57, FLJ10747 C Transmembrane protein 57 610301 REc, H 4(Tmem57)
1.205 2 10 14 1p36.11 TRIM63, RNF28, SMRZ, MURF1 P Tripartite motif containing 63 606131 A
1.206 2 19 16 1p36.11 TRNP1 P TMF1-regulated nuclear protein 1 616824 REc
1.207 5 29 15 1p36.11 UBXN11, SOC P UBX domain protein 11 609151 REc
1.208 12 22 15 1p36.11 ZNF593, ZT86 P Zinc finger protein 593 616698 REc
1.209 1 29 16 1p36.11 ZNF683, HOBIT P Zinc finger protein 683 616775 REc
1.210 11 13 17 1p36.11 WASF2, WAVE2, SCAR2 P WAS protein family member 2 605875 REc ?pseudogene on Xp11.21
1.211 8 28 97 1p36.13 CAPZB, CAPPB P Capping protein (actin filament) muscle Z-line, beta 601572 A
1.212 1 8 16 1p36.12 CDC42, TKS P Cell division cycle 42 (GTP-binding protein, 25kD) 116952 H, R, REc Takenouchi-Kosaki syndrome, 616737 (3) 4(cdc42)
1.213 1 1 95 1p35.3 CHC1, RCC1 C Regulator of chromosome condensation 179710 REb, A 4(Chc1)
1.214 5 25 14 1p36.12 DDOST, OST, OST48, CDG1R P Dolichyl-diphosphooligosaccharide-protein glycosyltransferase 602202 A mutation (cmpd het) identified in 1 CDG1R patient ?Congenital disorder of glycosylation, type Ir, 614507 (3)
1.215 7 16 09 1p36.21 DHRS3, RETSDR1 P Short-chain dehydrogenase/reductase family, member 3 612830 A, R
1.216 11 17 16 1p36.12 ECE1 C Endothelin converting enzyme 1 600423 A, R, Psh mutation identified in 1 HCAD patient ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3); {Hypertension, essential, susceptibility to}, 145500 (3)
1.217 5 6 13 1p36.13 EPHA2, ECK, CTPP1, CTPA, ARCC2, CTRCT6 C Ephrin receptor EphA2 176946 A, REa, Fd Cataract 6, multiple types, 116600 (3)
1.218 4 11 97 1p36.11 EXTL1 P Exostosin-like 1 601738 R, A
1.219 8 28 02 1p36.11 HMGN2, HMG17 C High-mobility group nucleosomal binding protein 2 163910 REa, A
1.220 4 1 01 1p36.12 HSPG2, PLC, SJS, SJA, SJS1 C Heparan sulfate proteoglycan of basement membrane (perlecan) 142461 A, REa, LD Schwartz-Jampel syndrome, type 1, 255800 (3); Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3) 4(Plc)
1.221 2 28 03 1p36.11 MDS2 P Myelodysplasia syndrome gene 2 607305 A fused with ETV6 in myelodysplastic syndrome
1.222 3 6 01 1p36.11 NR0B2, SHP P Nuclear receptor subfamily 0, group B, member 2 604630 REa, A Obesity, mild, early-onset, 601665 (3)
1.223 11 3 98 1p35.3 RNU17A, RNE1 C RNA, U17a small nucleolar 180645 REn in IVS1 of CHC1
1.224 11 3 98 1p35.3 RNU17B P RNA, U17b small nucleolar 603239 REn
1.225 12 15 99 1p35.3 RNU17D, U17HG P RNA, U17d small nucleolar 603238 REn
1.226 8 30 09 1p36.11 RPS6KA1, RSK1 P Ribosomal protein S6 kinase, 90kD, 1 601684 REa, REc
1.227 2 20 98 1p36.21 RSC1A1, RS1 P Regulatory solute carrier protein, family 1, member 1 601966 A
1.228 12 19 11 1p36.11 SRSF10, FUSIP1, TASR, TASR1, TASR2 P Splicine factor, serine/arginine-rich, 10 605221 REc pseudogenes on chr. 9, 12, 20
1.229 2 15 96 1p36.11 TCEB3 P Transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A) 600786 A
1.230 9 2 09 1q21.1 TRNAN1, TRN1, TRN P tRNA asparagine 189880 REa, RE
1.231 8 1 14 1p36.12 EPHB2, EPHT3, DRT, ERK, PCBC, CAPB C eph tyrosine kinase 3 (ephrin receptor EphB2) 600997 Psh, A, Fd {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3) 4(Ephb2)
1.232 4 23 96 1p36.1-p35 MEMO1 P Methylation modifier for class I HLA 601201 D
1.233 10 22 95 1p36.13 MFAP2, MAGP, MAGP1 P Microfibrillar-associated protein-2 156790 REa, A 4(Mfap2)
1.234 2 26 95 1p36.12 RAP1GA1 P RAP1, GTPase activating protein 1 600278 A, REa
1.235 2 4 09 1p36.11 RPL11, DBA7 C Ribosomal protein L11 604175 REa, R, A Diamond-Blackfan anemia 7, 612562 (3)
1.236 3 15 13 1p36.13 SDHB, SDH2, SDHIP, PGL4, CWS2 C Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 185470 S, REa, A 1 of 2 polypeptides Paragangliomas 4, 115310 (3); Pheochromocytoma, 171300 (3); Paraganglioma and gastric stromal sarcoma, 606864 (3); Cowden syndrome 2, 612359 (3); Gastrointestinal stromal tumor, 606764 (3)
1.237 4 2 15 1p36.11 SLC9A1, NHE1, APNH, LIKNS C Solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive) 107310 A, F, Fd mutation identified in 1 LIKNS family ?Lichtenstein-Knorr syndrome, 616291 (3) 4(Apnh, Nhe1)
1.238 7 17 01 1p36.11 STMN1, LAP18, SMN P Stathmin 151442 REa, A 4(Lap18)
1.239 1 1 95 1p36.11 GPR3 C G protein-coupled receptor-3 600241 A
1.240 3 17 94 1p35.3 OPRD1 P Opioid receptor, delta-1 165195 H, A 4(Nbor, Oprd1)
1.241 8 12 09 1p36.12 ALPL, HOPS, TNSALP C Alkaline phosphatase, liver/bone/kidney 171760 S, H, Fd, F, A Hypophosphatasia, infantile, 241500 (3); Hypophosphatasia, childhood, 241510 (3); Odontohypophosphatasia, 146300 (3); Hypophosphatasia, adult, 146300 (3) 4(Akp2)
1.242 3 17 06 1p36.31 ACOT7, BACH, LACH P Acyl-CoA thioesterase 7 602587 REc
1.243 2 15 06 1p36 AD7CNTP P Alzheimer disease neuronal thread protein 607413 R, REc
1.244 1 25 99 1p36.13 ALDH4A1, ALDH4, P5CDH P Aldehyde dehydrogenase 4 family, member A1 (delta-1-pyrroline 5-carboxylate dehydrogenase) 606811 A Hyperprolinemia, type II, 239510 (3)
1.245 11 7 08 1p36 ALPQTL2 P Alkaline phosphatase, plasma level of, QTL 2 612367 Fd linkage with rs1780324 {Alkaline phosphatase, plasma level of, QTL 2} (2)
1.246 1 11 17 1p36.13 ATP13A2, PARK9, KRPPD, SPG78 C ATPase, type 13A2 610513 REc, Fd mutation identified in 1 family with CLN12 Kufor-Rakeb syndrome, 606693 (3); Spastic paraplegia 78, autosomal recessive, 617225 (3) 4(Atp13a2)
1.247 10 6 09 1p36 BCC1 P Basal cell carcinoma, susceptibility to, 1 605462 Fd associated with rs7538876 {Basal cell carcinoma, susceptibility to, 1} (2)
1.248 5 14 02 1p36 BMND3 C Bone mineral density QTL 3 606928 Fd ?another locus at 3p21 [Bone mineral density QTL 3] (2)
1.249 8 31 12 1p36.31-p36.23 CAMTA1, KIAA0833, CANPMR P Calmodulin-binding transcription activator 1 611501 REc Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3)
1.250 2 20 07 1p36.31 CHD5 C Chromodomain helicase DNA-binding protein 5 610771 REc, H 4(Chd5)
1.251 6 19 98 1p36.22 CLCN6 P Chloride channel 6 602726 REa, A
1.252 11 3 09 1p36.13 CLCNKA C Chloride channel, kidney, A 602024 Fd, REc 11kb from CLCNKB; simultaneous mutation in CLCNKA and CLCNKB Bartter syndrome, type 4b, digenic, 613090 (3)
1.253 8 24 04 1p36.13 CLCNKB C Chloride channel, kidney, B 602023 Fd, REc unequal crossingover with CLCNKA Bartter syndrome, type 3, 607364 (3); Bartter syndrome, type 4b, digenic, 613090 (3)
1.254 3 3 15 1p36.22 CLSTN1, KIAA0911 P Calsyntenin 1 611321 REc 4(Clstn1)
1.255 1 4 93 1p36 CMM, MLM, DNS P Cutaneous malignant melanoma/dysplastic nevus 155600 F, Fd, D some linkage studies negative; see 9p {Melanoma, cutaneous malignant, 1} (2)
1.256 12 30 09 1p36.11 CNR2, CB2, CX5 P Cannabinoid receptor 2 605051 R, REc
1.257 4 22 15 1p36.33 DVL1, DRS2 C Dishevelled 1 (homologous to Drosophila dsh) 601365 Psh, A Robinow syndrome, autosomal dominant 2, 616331 (3)
1.258 2 01 01 1p36.22 CORT C Cortistatin 602784 H, R, REc 4(Cort)
1.259 1 20 09 1p36 DEL1p36, C1DELp36 P Chromosome 1p36 deletion syndrome 607872 Ch contiguous gene deletion syndrome Chromosome 1p36 deletion syndrome (4)
1.260 3 13 06 1p36.23 DJ1, PARK7 P Oncogene DJ-1 602533 Fd, R Parkinson disease 7, autosomal recessive early-onset, 606324 (3)
1.261 2 23 95 1p36.12 E2F2 P E2F transcription factor 2 600426 A
1.262 4 18 97 1p35.3 EYA3 P Eyes absent, Drosophila, homolog of, 3 601655 A, H 4(Eya3)
1.263 9 9 08 1p36.22 FBXO2, FBX2, FBG1, NFB42 C F-box only protein 2 607112 REc 4(Fbxo2)
1.264 5 29 12 1p36.22 H6PD, GDH, G6PDH, CORTRD1 C Hexose-6-phosphate dehydrogenase 138090 S, F digenic triallelic mutations with HSD11B1 Cortisone reductase deficiency 1, 604931 (3)
1.265 6 9 09 1p36 IBD7 P Inflammatory bowel disease 7 605225 Fd associated with rs6426833 {Inflammatory bowel disease 7} (2)
1.266 4 17 01 1p36.31 ICMT P Isoprenylcysteine carboxylmethyltransferase 605851 R
1.267 2 7 17 1p36.11 KDF1, C1orf172, ECTD12 C Keratinocyte differentiation factor 1 616758 REc, H mutation identified in 1 ECTD12 family ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, 617337 (3) 4(Kdf1)
1.268 4 2 01 1p36.12 LUZP1 P Leucine zipper protein 1 601422 H, R 4(Luzp)
1.269 12 16 16 1p36.22 MAD2L2, MAD2B, FANCV P Mitotic arrest-deficient 2, S. cerevisiae, homolog-like 2 604094 R mutation identified in 1 FANCV patient; pseudogene on 14q21-q23 ?Fanconi anemia, complementation group V, 617243 (3)
1.270 9 16 03 1p36.23 MIG6, RALT P Mitogen-inducible gene 6 608069 R, REc
1.271 3 23 09 1p36.22 MIR34A, MIRN34A P Micro RNA 34A 611172 REc
1.272 2 23 09 1p36 MS4 P Multiple sclerosis, susceptibility to, 4 612596 Fd associated with rs10492972 {Multiple sclerosis, susceptibility to, 4} (2)
1.273 7 22 11 1p36 MYP14 P Myopia 14 610320 Fd between D1S552 and D1S1622 Myopia 14 (2)
1.274 12 30 02 1p36.31 NPHP4, SLSN4 P Nephrocystin 4 607215 Fd, REc Nephronophthisis 4, 606966 (3); Senior-Loken syndrome 4, 606996 (3)
1.275 7 9 06 1p36.32 PANK4 P Pantothenate kinase 4 606162 REn
1.276 6 1 04 1p36.12 PINK1, PARK6 C PTEN-induced putative kinase 1 608309 R, REc, Fd Parkinson disease 6, early onset, 605909 (3)
1.277 9 9 13 1p36.31 PLEKHG5, KIAA0720, DSMA4, CMTRIC C Pleckstrin homology domain-containing protein, family G, member 5 611101 REc, Fd, R, Fd Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3); Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3)
1.278 9 28 96 1p36.21 PRDM2, RIZ P PR domain-containing protein 2 (retinoblastoma protein-binding zinc-finger protein RIZ) 601196 REc, A 4(Riz)
1.279 7 09 06 1p36.33 PRKCZ, PKC2 P Protein kinase C, zeta form 176982 REc
1.280 11 29 99 1p36.11 RUNX3, CBFA3, PEBP2A3, AML2 C Runt-related transcription factor 3 600210 A, REa 4(Aml2, Cbfa3)
1.281 7 31 06 1p36 SCAR4, SCASI P Spinocerebellar ataxia, autosomal recessive 4 607317 Fd Spinocerebellar ataxia, autosomal recessive 4 (2)
1.282 6 4 13 1p36.32 SMIM1, VEL P Small integral membrane protein 1 615242 REc [Blood group, Vel system], 615264 (3)
1.283 2 12 03 1p36.31 TAS1R1, T1R1 C Taste receptor type 1, member 1 606225 R, REc 4(T1r1)
1.284 2 12 03 1p36.13 TAS1R2, T1R2 C Taste receptor type 1, member 2 606226 R, REc 4(T1r2)
1.285 1 15 14 1p36.33 TNFRSF4, TXGP1L, OX40, ACT35, IMD16 P Tumor necrosis factor receptor superfamily, member 4 600315 A mutation identified in 1 IMD16 family ?Immunodeficiency 16, 615593 (3) 4(Ox40)
1.286 12 18 98 1p36.22 TNFRSF8, CD30, D1S166E P Tumor necrosis factor receptor superfamily, member 8 (CD30 antigen; Ki-1 antigen) 153243 A 4(Cd30)
1.287 12 18 98 1p36.23 TNFRSF9, ILA, CD137 P Tumor necrosis factor receptor superfamily, member 9 (interleukin-activated receptor; Ly63, mouse, homolog of) 602250 REa (Cd157)
1.288 10 15 97 1p36.32 TP73 P p53-related protein 601990 D imprinted ?Neuroblastoma (1)
1.289 9 2 09 1p36.13 TRNAE1, TRNE, TRE P tRNA glutamic acid 180640 A
1.290 4 21 17 1p36.12 USP48, USP31 P Ubiquitin-specific peptidase 48 617445 REc
1.291 7 9 06 1p36.23 VAMP3 P Vesicle-associated membrane protein 3 603657 REc
1.292 6 27 08 1p36.12 ZBTB40, KIAA0478 P Zinc finger- and BTB domain-containing protein 40 612106 REc
1.293 1 2 08 1p36.12 ZNF436, KIAA1710 P Zinc finger protein 436 611703 REc
1.294 5 29 02 1p36.11 GALE C UDP galactose-4-epimerase 606953 S, LD Galactose epimerase deficiency, 230350 (3)
1.295 3 12 96 1p36.13 HTR6 P 5-hydroxytryptamine (serotonin) receptor-6 601109 REa
1.296 11 1 06 1p36.11 LDLRAP1, ARH, FHCB2, FHCB1 C Low density lipoprotein receptor adaptor protein 1 605747 Fd Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
1.297 11 18 16 1p36.11 SELENON, SEPN1, SELN, RSMD1, CFTD C Selenoprotein N 606210 REc, Fd Muscular dystrophy, rigid spine, 1, 602771 (3); Myopathy, congenital, with fiber-type disproportion, 255310 (3)
1.298 11 1 04 1p36-p34 DYX8 P Dyslexia, susceptibility to, 8 608995 Fd between D1S552 and D1S1622 {Dyslexia, susceptibility to, 8} (2)
1.299 12 23 14 1p36.13 PLA2G5, FRFB P Phospholipase A2, group V 601192 A [Fleck retina, familial benign], 228980 (3) 4(Pla2g5)
1.300 5 4 00 1p34.3 PABPC4, PABP4, IPABP, APP1 P Polyadenylate-binding protein, cytoplasmic, 4 603407 Psh, R
1.301 12 3 91 1p36.22 SRM, SPS1 C Spermidine synthase-1 182891 REa, A, Psh ?pseudogene on 3p14-q21
1.302 4 29 16 1p36.11 ARID1A, C1orf4, B120, SMARCF1, MRD14, CSS2 P AT rich interactive domain 1A, SWI-like 603024 A Coffin-Siris syndrome 2, 614607 (3)
1.303 1 15 13 1p35.3 ATP1F1, IF1 P ATPase inhibitory factor 1 614981 REc
1.304 3 28 11 1p36.11 CATSPER4 P Cation channel, sperm-associated, 4 609121 REc 4(Catsper4)
1.305 1 27 04 1p35.1 CSMD2, KIAA1884 P Cub and Sushi multiple domains 2 608398 REc
1.306 7 17 09 1p35.3 GMEB1 P Glucocorticoid modulatory element-binding protein 1 604409 R, REc
1.307 1 9 17 1p35.3 MECR, NRBF1, DYTOABG P Mitochondrial trans-2-enoyl-CoA reductase 608205 REc Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3)
1.308 11 7 08 1p35.3 MED18 P Mediator complex subunit 18 612384 REc
1.309 2 21 07 1p36.11 PDIK1L P PDLIM1-interacting kinase 1-like 610785 REc
1.310 7 16 12 1p35.3 PHACTR4 P Phosphatase and actin regulator 4 608726 R, REc
1.311 2 1 11 1p35.3 PTPRU, GLEPP1, PTPU2 C Protein tyrosine phosphatase, receptor type, U 602454 REc
1.312 5 13 03 1p35.3 SEST2, HI95 P Sestrin 2 607767 A 9(Sest2)
1.313 10 25 17 1p35.3 SMPDL3B, ASML3B P Sphingolyelin phosphodiesterase, acid-like, 3B 617737 REc
1.314 12 19 11 1p35.3 SRSF4, SFRS4, SRp75 P Splicing factor, serine/arginine-rich, 4 601940 R, REc
1.315 9 22 08 1p35.3 TAF12 P TAF12 RNA polymerase II, TATA box-binding protein-associated factor, 20kD 600773 R, REc
1.316 1 30 18 1p35.3 THEMIS2, C1orf38, ICB1 P Thymocyte selection-associated protein family, member 2 617856 REc
1.317 12 18 14 1p34.3 MEAF6, C1orf149, EAF6 P MYST/ESA1-associated factor 6 611001 R, REc
1.318 11 30 06 1p34.3 ADPRHL2, ARH3 P ADP-ribosylhydrolase-like 2 610624 REc
1.319 1 9 13 1p34.3 ZC3H12A, MCPIP, MCPIP1 P Zinc finger CCCH domain-containing protein 12A 610562 REc
1.320 8 8 13 1p35.2 HCRTR1, OX1R P Hypocretin receptor 1 602392 REc, R
1.321 7 16 09 1p35.2 NKAIN1 P Na+/K+ transporting ATPase-interacting 1 612871 REc 4(Nkain1)
1.322 9 22 08 1p35.2 PUM1, KIAA0099 P Pumilio, Drosophila, homolog of, 1 607204 REa, REc
1.323 4 2 12 1p35.2 SERINC2 P Serine incorporator 2 614549 REc
1.324 7 27 09 1p35.2 SNRNP40, SPF38, PRPF8BP P Small nuclear ribonucleoprotein 40kDa (U5) 607797 R, REc
1.325 11 3 14 1p35.2 TINAGL1, TINAGRP P Tubulointerstitial nephritis antigen-like protein 1 616064 REc
1.326 9 24 08 1p36.11 RCAN3, DSCR1L2, MCIP3 P Regulator of calcineurin 3 605860 REc 4(Dscr1l2)
1.327 6 12 17 1p35.1 BSDC1 P BSD domain-containing protein 1 617518 REc
1.328 11 23 11 1p35.2 CCDC28B, MGC1203 P Coiled-coil domain-containing protein 28B 610162 REc {Bardet-Biedl syndrome 1, modifier of}, 209900 (3)
1.329 8 29 02 1p34.3 DNALI1, P28 P Dynein, axonemal, light intermediate polypeptide 1 602135 REa, R
1.330 3 20 08 1p35.1 FNDC5, FRCP2 P Fibronectin type III domain-containing protein 5 611906 R, REc, H 4(Fndc5)
1.331 2 18 96 1p34.3 GJA4, CX37 C Gap junction protein, alpha-4, 37kD (connexin 37) 121012 REa, A, REc (Gja4)
1.332 6 13 17 1p34.3 GJB3, CX31, DFNA2B, EKVP1 C Gap junction protein, beta-3 603324 REn, REc, Psh, A same YAC as GJA4 Erythrokeratodermia variabilis et progressiva 1, 133200 (3); Deafness, autosomal dominant 2B, 612644 (3); Deafness, autosomal recessive (3); Deafness, autosomal dominant, with peripheral neuropathy (3); Deafness, digenic, GJB2/GJB3, 220290 (3)
1.333 6 13 17 1p34.3 GJB4, CX30.3, EKVP2 P Gap junction protein, beta-4 605425 REn, Fd Erythrokeratodermia variabilis et progressiva 2, 617524 (3)
1.334 11 29 00 1p34.3 GJB5, CX31.1 P Gap junction protein, beta-5 604493 R, REc
1.335 1 3 17 1p35.1 HMGB4 P High mobility group box 4 617285 REc, H 4(Hmgb4)
1.336 3 26 07 1p35.1 IBRDC3, NKLAM P IBR domain-containing protein 3 610872 R, REc
1.337 5 26 13 1p35.2 KPNA6 P Karyopherin alpha-6 610563 R, REc
1.338 1 14 16 1p35.1 TRIM62, DEAR1 P Tripartite motif-containing protein 62 616755 A
1.339 7 17 14 1p35.1 ZBTB8OS, ARCH P Zinc finger- and BTB domain-containing protein 8, opposite strand 615891 REc
1.340 4 2 16 1p35.1 ZSCAN20, ZNF31, KOX29 P Zinc finger- and SCAN domain-containing protein 20 611315 REc
1.341 9 1 16 1p35.2 ADGRB2, BAI2 P Adhesion G protein-coupled receptor B2 602683 A
1.342 8 21 91 1p35 EBVS1 P Epstein-Barr virus integration site 132850 A
1.343 3 21 93 1p35.3 G1P3, IFI616 C Interferon, alpha-inducible protein (clone IFI-6-16) 147572 A, T
1.344 5 26 98 1p35.2 MATN1, CRTM, CMP C Matrilin 1, cartilage matrix protein 115437 REa, A, Fd
1.345 3 19 10 1p36.13 PLA2G2A, PLA2B, PLA2L, MOM1 C Phospholipase A2, group IIA, platelets, synovial fluid 172411 REa, Fd {Colorectal cancer}, 114500 (3) 4(Pla2g2a)
1.346 7 27 09 1p35.3 PPP1R8, NIPP1, ARD1 P Protein phosphatase-1, regulatory subunit-8 602636 REa, REc
1.347 3 1 01 1p35.2 PTP4A2, PTP4A, PRL2, HH13 P Protein tyrosine phosphatase, type 4A, 2 601584 REc
1.348 4 7 94 1p35.3 RPA2 P Replication protein A2, 32kD 179836 Psh, A
1.349 11 22 16 1p36.12 WNT4, SERKAL P Wingless-type MMTV integration site family, member 4 603490 A, R mutation identified in 1 SERKAL family ?SERKAL syndrome, 611812 (3); Mullerian aplasia and hyperandrogenism, 158330 (3) 4(Wnt4)
1.350 2 10 06 1p35.1 YARS, CMTDIC, TYRRS, YTS, YRS C Tyrosyl-tRNA synthetase 603623 Fd, REc Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3)
1.351 8 26 15 1p35.3 YTHDF2 P YTH N6-methyladenosine RNA-binding protein 2 610640 Ch, REc fused with AML1 in t(1;21)
1.352 7 11 16 1p34.3 CSF3R, GCSFR, SCN7 C Colony-stimulating factor-3 receptor (granulocyte) 138971 A, REb, Psh, REa Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)
1.353 5 22 14 1p35.2 LCK, IMD22 C Lymphocyte-specific protein tyrosine kinase 153390 A, H, Ch LCK/TCRB fusion in leukemia; mutation identified in 1 IMD22 patient ?Immunodeficiency 22, 615758 (3) 4(Lck)
1.354 9 29 96 1p35.3 PTAFR C Platelet-activating factor receptor 173393 REa, A
1.355 6 8 15 1p35.1 HPCA, DYT2 P Hippocalcin, 23kD, Ca2+-binding protein 142622 REa, REc Dystonia 2, torsion, autosomal recessive, 224500 (3)
1.356 4 23 08 1p34.3 MRPS15 P Mitochondrial ribosomal protein S15 611979 R, REc
1.357 5 11 16 1p34.3 AGO1, EIF2C1, GERP95, EIF2C P Argonaute 1, RISC catalytic component 606228 A
1.358 7 1 02 1p34.2 CITED4 P CBP/P300-interacting transactivator, with glu/asp-rich carboxy terminal domain, 4 606815 A
1.359 6 27 08 1p34.3 EIF2C3, AGO3 C Eukaryotic translation initiation factor 2C, subunit 3 (argonaute 3) 607355 R, REc, H 4(Ago3)
1.360 7 23 03 1p34.3 EIF2C4, AGO4, KIAA1567 P Eukaryotic translation initiation factor 2C, 4 (argonaute 4) 607356 R, REc, H 4(Eif2c4)
1.361 8 18 98 1p34.2 GUCA2A, GUCA2 P Guanylate cyclase activator 2A (guanylin 2, intestinal, heat-stable) 139392 A 4(Guca2)
1.362 1 22 07 1p35.1 TSSK3, STK22C, STK22D C Testis-specific serine/threonine kinase 3 607660 A 4(Stk22d)
1.363 1 30 12 1p34.2 EBNA1BP2, EBP2 P EBNA1-binding protein 2 614443 REc
1.364 4 17 13 1p34.3 AKIRIN1 P Akirin 1 615164 REc
1.365 9 10 12 1p34.3 C1orf109 P Chromosome 1 open reading frame 109 614799 REc
1.366 3 24 06 1p34.3 CDCA8 P Cell division cycle-associated protein 8 609977 REc possible pseudogene on chr.7
1.367 9 10 07 1p34.3 EPHA10 P Ephrin receptor EphA10 611123 REc
1.368 2 28 06 1p34.3 GBD3 P Gallbladder disease 3 609919 Fd new D2S255 Gallbladder disease 3 (2)
1.369 4 1 08 1p34.3 GJA9, CX59 P Gap junction protein, alpha-9 611923 REc
1.370 5 16 05 1p34.3 GNL2, NGP1 P Guanine nucleotide-binding protein-like 2 609365 R, REc
1.371 6 13 12 1p34.2 HEYL P Hariy/enhancer of split-related with YRPW motif-like protein 609034 R, A
1.372 7 7 13 1p34.3 KIAA0319L, KIAA1837 P KIAA0319-like 613535 R, REc
1.373 4 6 18 1p34.3 LSM10 P Lsm10, U7 small nuclear RNA-associated protein 617909 REc
1.374 2 2 14 1p34.2 MYCL, LMYC C Oncogene MYC, lung carcinoma-derived 164850 REa, A, F, REn 4(Lmyc1)
1.375 2 16 04 1p34.3 NCDN, KIAA0607 P Neurochondrin 608458 R, REc
1.376 1 15 09 1p34.3 RSPO1, FLJ40906 P Roof plate-specific spondin, mouse, homolog of, 1 609595 REc Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3); Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3)
1.377 3 11 08 1p35.1 S100PBP, S100PBPR P S100P-binding protein 611889 REc
1.378 4 10 14 1p34.3 SF3A3, SF3A60, SAP61, PRP9 P Splicing factor 3A, subunit 3 605596 REc
1.379 6 12 17 1p34.3 SNIP1, PMRED P SMAD nuclear interacting protein 1 608241 REc Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3)
1.380 6 30 05 1p34.3 STK40, SHIK P Serine/threonine protein kinase 40 609437 R, REc
1.381 1 18 12 1p34.3 TFAP2E P Transcription factor AP2-epsilon 614428 REc
1.382 7 13 15 1p34.3 THRAP3, TRAP150 P Thyroid hormone receptor-associated protein 3 603809 REc
1.383 5 21 07 1p34.3 TRAPPC3, BET3 P Trafficking protein particle complex, subunit 3 610955 R, REc
1.384 6 30 05 1p34.3 UTP11L, CGI94 P UTP11-like protein 609440 R, REc
1.385 8 27 15 1p34.3 ZMYM4, ZNF262, KIAA0425 P Zinc finger, MYM-type 4 613568 REc
1.386 1 29 01 1p34.3 CLASPIN P Claspin, Xenopus, homolog of 605434 REc
1.387 1 23 08 1p35.1 SYNC1 P Syncoilin 1 611750 REc
1.388 5 25 13 1p35.1 AZIN2, ODC1L, KIAA1945 P Antizyme inhibitor 2 608353 REc
1.389 5 26 13 1p34.2 NT5C1A, CN1A, CNI, CN1 P 5'-nucleotidase, cytosolic, IA 610525 REc
1.390 2 25 10 1p34.3 COL8A2, FECD1, PPCD2 C Collagen VIII, alpha-2 polypeptide 120252 A Corneal dystrophy, Fuchs endothelial, 1, 136800 (3); Corneal dystrophy, posterior polymorphous 2, 609140 (3)
1.391 7 6 05 1p34.1 MUTYH, MYH P MutY, E. coli, homolog of 604933 A Adenomas, multiple colorectal, 608456 (3); Gastric cancer, somatic, 613659 (3); Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)
1.392 11 12 12 1p34.2 BMP8B, OP2 P Bone morphogenetic protein-8b (osteogenic protein 2) 602284 H, REc 4(Bmp8)
1.393 12 22 17 1p34.2 CAP1 P Cyclase-associated actin cytoskeleton regulatory protein 1 617801 REc
1.394 11 30 06 1p34.2 CLDN19, HOMG5 C Claudin 19 610036 REc, Fd Hypomagnesemia 5, renal, with ocular involvement, 248190 (3) 4(Cldn19)
1.395 7 13 17 1p34.2 COL9A2, EDM2, STL5 C Collagen IX, alpha-2 polypeptide 120260 REa, A, REn, Fd mutation identified in1 STL5 family Epiphyseal dysplasia, multiple, 2, 600204 (3); ?Stickler syndrome, type V, 614284 (3) 4(Col9a2)
1.396 2 20 08 1p34.2 ELOVL1, SSC1 P Elongation of very long chain fatty acids-like 1 611813 REc
1.397 10 12 14 1p34.2 FOXJ3, KIAA1041 P Forkhead box J3 616035 REc
1.398 2 25 15 1p34.2 MED8 P Mediator complex subunit 8 607956 R, REc
1.399 7 30 15 1p34.2 MFSD2A, MCPH15 P Major facilitator superfamily domain-containing protein 2A 614397 REc Microcephaly 15, primary, autosomal recessive, 616486 (3)
1.400 4 8 13 1p34.2 MIR30C1 P Micro RNA 30C-1 615151 REc
1.401 8 19 04 1p34.3 NOR1 P Oxidored-nitro domain-containing protein 1 608854 REc
1.402 5 24 13 1p34.2 OXCT2, FLJ0030 P 3-oxoacid CoA transferase 2 610289 REc
1.403 7 27 09 1p34.1 PIK3R3 P Phosphatidylinositol 3-kinase, regulatory, 3 606076 R, REc
1.404 8 8 13 1p34.2 PPIE, CYP33 P Peptidyl-prolyl isomerase E 602435 REc, Psh, REa
1.405 2 20 98 1p34.3 PSMB2 P Proteasome subunit, beta type, 2 602175 A
1.406 12 17 15 1p34.2 SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN C Solute carrier family 2 (facilitated glucose transporter), member 1 138140 REa, A, Fd probably in 1p33 GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3); GLUT1 deficiency syndrome 2, childhood onset, 612126 (3); {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3); Dystonia 9, 601042 (3); Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3)
1.407 4 22 16 1p34.2 SMAP2, SMAP1L P Small ADP-ribosylation factor GTPase-activating protein 2 616916 REc
1.408 1 25 18 1p34.2 SVBP, CCDC23 P Small vasohibin-binding protein 617853 REc
1.409 11 1 13 1p34.2 SZT2, KIAA0467, EIEE18 P Seizure threshold 2, mouse, homolog of 615463 REc Epileptic encephalopathy, early infantile, 18, 615476 (3)
1.410 2 16 18 1p34.2 TRIT1, IPT, COXPD35 P tRNA isopentenyltransferase 1 617840 REc Combined oxidative phosphorylation deficiency 35, 617873 (3)
1.411 12 11 12 1p34.2 WDR65 C WD repeat-containing protein 65 614259 REc, H, Fd 1(Wdr65)
1.412 9 24 08 1p34.3 YRDC, IRIP P YRDC domain-containing protein 612276 REc 4(Yrdc)
1.413 5 21 02 1p34.2 CDC20 C Cell division cycle 20, S. cerevisiae, homolog of 603618 R pseudogene on 9q13-q21
1.414 6 15 99 1p34.3 NDUFS5 C NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kD 603847 REa, R
1.415 5 7 03 1p32.3 OSBPL9, ORP9 C Oxysterol-binding protein-like protein 9 606737 REc
1.416 7 17 14 1p34.2 CTPS1, CTPS, IMD24 C Cytidine 5'-triphosphate synthetase 1 123860 REa, A Immunodeficiency 24, 615897 (3)
1.417 2 25 15 1p34.1 DNMAP1, DMAP1 P DNMT1-associated protein 1 605077 REc
1.418 5 31 05 1p34.1 EIF2B3 P Eukaryotic translation initiation factor 2B, subunit 3 606273 R, REc Leukoencephalopathy with vanishing white matter, 603896 (3)
1.419 10 3 07 1p35.2 EIF3I, EIF3S2, TRIP1 P Eukaryotic translation initiation factor 3, subunit I 603911 A pseudogene on 7q32
1.420 9 9 08 1p34.2 FOXO6 P Forkhead box O6 611457 REc 4(Foxo6)
1.421 2 24 97 1p35.2-p35.1 HDAC1, RPD3L1 P Histone deacetylase-1 601241 A
1.422 9 7 12 1p34.1 IPO13, IMP13, KIAA0724, RANBP13 P Importin 13 610411 R, REc
1.423 5 29 12 1p34.2-p34.1 KDM4A, JMJD2A, JHDM3A, KIAA0677 C Lysine-specific demethylase 4A 609764 R, REc
1.424 8 24 04 1p34.1 KIF2C, KNSL6, MCAK P Kinesin family, member 2C 604538 R, REc
1.425 12 30 14 1p34.1 LURAP1, LRAP35A P Leucine-rich adaptor protein 1 616129 REc
1.426 9 24 08 1p34.1 MAST2, MAST205, KIAA0807 P Microtubule-associated serine/threonine kinase 2 612257 R, REc
1.427 1 20 06 1p34.1 MMACHC C MMACHC gene 609831 REn, Fd Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
1.428 9 16 12 1p34.1 NASP P Nuclear autoantigenic sperm protein 603185 REc
1.429 3 6 18 1p34.1 PRDX1, PRXI, PAGA, NKEFA P Peroxiredoxin 1 176763 A pseudogene PAGB on 9p22 Methylmalonic aciduria and homocystinuria, cblC type, digenic, 277400 (3)
1.430 2 1 11 1p34.1 PLK3, CNK, PRK P Polo-like kinase 3 602913 REc previously assigned to 8p21 by FISH
1.431 4 13 98 1p34.3 POU3F1 P POU domain, class 3, transcription factor-1 602479 A 4(Pou3f1)
1.432 5 17 04 1p34.2 PPIH P Peptidyl-prolyl isomerase H 606095 R
1.433 2 23 08 1p34.2 RIMS3, NIM3, KIAA0137 C Protein regulating synaptic membrane exocytosis 3 611600 R, REc
1.434 12 30 14 1p34.1 RNF220 P RING finger protein 220 616136 REc
1.435 5 30 17 1p34.1 ST3GAL3, SIAT6, ST3GALII, MRT12, EIEE15 P ST3 beta-galactoside alpha-2,3-sialyltransferase 3 606494 R, REc mutation identified in 1 EIEE15 family Mental retardation, autosomal recessive 12, 611090 (3); ?Epileptic encephalopathy, early infantile, 15, 615006 (3)
1.436 1 4 08 1p34.1 TCTEX1D4 P TCTEX1 domain-containing 4 611713 REc
1.437 4 20 17 1p34.1 TOE1, PCH7 P Target of EGR1 613931 REc Pontocerebellar hypoplasia, type 7, 614969 (3)
1.438 12 21 09 1p34.1 TSPAN1, NET1 P Tetraspanin 1 613170 REn
1.439 3 31 11 1p33 UQCRH P Ubiquinol-cytochrome c reductase hinge protein 613844 REc pseudogene on 1p36
1.440 10 4 05 1p34.1 ZNF393 P Zinc finger protein-393 609602 REc, H 4(Znf393)
1.441 8 4 97 1p34.1-p32 PTOS1 P Ptosis, congenital 1, autosomal dominant 178300 A Ptosis, hereditary congenital, 1 (2)
1.442 2 1 95 1p34.1 RPS8 C Ribosomal protein S8 600357 REa, Psh, A
1.443 8 24 09 1p35.1 AK2 C Adenylate kinase-2, mitochondrial 103020 S, F, R Reticular dysgenesis, 267500 (3) 4(Ak2)
1.444 3 21 93 1p35.2 COL16A1 C Collagen XVI, alpha-1 polypeptide 120326 A, REa
1.445 8 21 07 1p34.1 DPH2, DPH2L2 P DPH2, S. cerevisiae, homolog of 603456 A
1.446 6 6 91 1p34.2 EDN2 C Endothelin-2 131241 REa, A vasoactive intestinal contractor (VIC) = mouse and rat equivalent
1.447 5 29 98 1p33-p32 ELAVL4, HUD, PNEM C Embryonic lethal, abnormal vision, Drosophila, homolog of, like-4 (Hu antigen D) 168360 A, H Neuropathy, paraneoplastic sensory (1) 4(Hud)
1.448 12 28 05 1p34.2 ERMAP, SC, RD C Erythroblast membrane-associated protein 609017 REc, H, F [Blood group, Scianna system], 111750 (3); [Blood group, Radin], 111620 (3) 4(Ermap)
1.449 6 22 99 1p34.3 FHL3, SLIM2 P Four-and-a-half LIM domains-3 602790 R
1.450 9 18 08 1p36.11 FUCA1 C Fucosidase, alpha-L- 1, tissue 612280 S, F, R, A, REa 8cM distal to RH; pseudogene on 2q31-q32 Fucosidosis, 230000 (3) 4(Fuca)
1.451 2 4 02 1p34.2 HIVEP3, KRC P Human immunodeficiency virus type 1 enhancer-binding protein 3 606649 REc
1.452 10 9 94 1p34.3 INPP5B P Inositol polyphosphate-5-phosphatase, 75kD 147264 REa, A 4(Inpp5b)
1.453 3 6 09 1p34.2 KCNQ4, DFNA2A P Potassium voltage-gated channel, KQT-like subfamily, member 4 603537 A Deafness, autosomal dominant 2A, 600101 (3)
1.454 11 13 96 1p35.2 LAPTM5 P Lysosomal-associated multispanning membrane protein-5 601476 A
1.455 10 09 07 1p32.3 LRP8, APOER2, MCI1 C Low density lipoprotein receptor-related protein 8 (Apolipoprotein E receptor 2) 602600 REa, A, Fd {Myocardial infarction, susceptibility to}, 608446 (3)
1.456 6 7 10 1p35.1 MARCKSL1, MLP, MRP C MARCKS-like protein 1 602940 H, Psh, A 4(Mlp)
1.457 3 9 12 1p34.2 MPL, TPOR, MPLV, THCYT2 C Myeloproliferative leukemia virus, homolog of 159530 A Thrombocytopenia, congenital amegakaryocytic, 604498 (3); Thrombocythemia 2, 601977 (3); Myelofibrosis with myeloid metaplasia, somatic, 254450 (3)
1.458 2 3 15 1p34.2 P3H1, LEPRE1, GROS1, OI8 C Prolyl 3-hydroxylase 1 610339 Psh, R, REc Osteogenesis imperfecta, type VIII, 610915 (3)
1.459 5 19 06 1p35.2 PEF1 P Peflin 610033 REc
1.460 3 6 08 1p34.3 RRAGC, RAGC P RAS-related GTP-binding protein C 608267 R, REc
1.461 6 23 15 1p34.2 SCMH1 P Sex comb on midleg, Drosophila, homolog of, 1 616396 A 4(Scmh1)
1.462 8 31 01 1p34.3 SFPQ, PSF P Splicing factor, proline- and glutamine-rich 605199 Ch fusion gene with TFE3 in RCC
1.463 11 19 10 1p34.1 UROD C Uroporphyrinogen decarboxylase 613521 S, A, REa Porphyria cutanea tarda, 176100 (3); Porphyria, hepatoerythropoietic, 176100 (3) 4(Urod)
1.464 2 23 12 1p34.2 YBX1, NSEP1, YB1, DBPB P Y box binding protein 1 (major histocompatibility complex, class II, Y box-binding protein I) 154030 A
1.465 6 23 05 1p34.2 ZMPSTE24, FACE1, STE24, MADB C Zinc metalloproteinase STE24 606480 A, R Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3); Restrictive dermopathy, lethal, 275210 (3)
1.466 10 9 94 1p34.3 GRIK3, GLUR7 P Glutamate receptor, ionotropic, kainate 3 138243 REa, A
1.467 5 29 98 1p34.2 GUCA2B, UGN P Guanylate cyclase activator 2B (uroguanylin) 601271 A 4(Guca1b)
1.468 7 2 98 1p32.3 MAGOH P Mago nashi, Drosophila, homolog of, proliferation-associated 602603 R 4(Magoh)
1.469 9 22 16 1p34.1 POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76 C Protein 0-mannose beta-1,2-N-acetylglucosaminyltransferase 606822 Fd, LD Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3); Retinitis pigmentosa 76, 617123 (3)
1.470 1 1 95 1p34.2 TIE, JTK14, TIE1 P Tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 600222 A
1.471 5 28 98 1p33 FOXD2, FKHL17, FREAC9 P Forkhead box D2 602211 A
1.472 8 31 10 1p34-p32 MACST P Macrostomia 613545 Ch max lod at D1S2797 Macrostomia (2)
1.473 9 11 91 1p33 CYP4B1 P Cytochrome P450, subfamily IVB, polypeptide 1 124075 REa 4(Cyp4a)
1.474 11 4 91 1p31.3 DDIT1, GADD45 P DNA damage-inducible transcript-1 126335 REa
1.475 7 28 15 1p33 AGBL4, CCP6 P ATP/GTP-binding protein-like 4 616476 REc
1.476 1 11 07 1p33 CYP4A11 C Cytochrome P450, subfamily IVA, polypeptide 11 601310 Psh, REc
1.477 8 2 13 1p33 CYP4A22 P Cytochrome P450, family 4, subfamily A, polypeptide 22 615341 REc
1.478 1 9 13 1p33 CYP4X1, CYPIVX1 P Cytochrome P450, family 4, subfamily X, polypeptide 1 614999 REc
1.479 5 28 15 1p33 DMBX1, OTX3 P Diencephalon/mesencephalon homeobox 1 607410 REc
1.480 11 19 13 1p33 FAAH C Fatty acid amide hydrolase 602935 R, REc {Drug addiction, susceptibility to}, 606581 (3) 4(Faah)
1.481 3 18 11 1p32.3 FAF1, HFAF1 P Fas-associated factor 1 604460 REc
1.482 10 13 09 1p33 KNCN, KINO, L5 P Kinocilin 611455 REc 4(Kncn)
1.483 7 17 09 1p33 MKNK1, MNK1 P Mitogen-activated protein kinase-interacting serine/threonine kinase 1 606724 R, REc
1.484 11 3 94 1p34.3 MTF1 P Metal-regulatory transcription factor 1 600172 A
1.485 5 30 17 1p33 NSUN4 P NOP2/SUN RNA methyltransferase family, member 4 615394 REc
1.486 4 6 11 1p33 OFC13 P Orofacial cleft 13 613857 Fd associated with rs3827730 Orofacial cleft 13 (2)
1.487 12 14 16 1p33 PDZK1IP1, MAP17 P PDZK1-interacting protein 1 607178 REc, H near SLC in human, mouse, chicken, zebrafish
1.488 6 23 15 1p33 SKINTL, SKINTP P SKINT1-like pseudogene 616392 REc
1.489 1 20 17 1p34.1 SLC6A9, GLYT1, GCENSG C Solute carrier family 6 (neurotransmitter transporter, glycine), member 9 601019 A Glycine encephalopathy with normal serum glycine, 617301 (3) 4(Slc6a9)
1.490 5 3 11 1p33 SPATA6, SRF1, HASH P Spermatogenesis-associated protein 6 613947 REc
1.491 12 27 13 1p33 STIL, SIL, MCPH7 C SCL/TAL1-interrupting locus 181590 REn, REc within about 250kb of SCL Microcephaly 7, primary, autosomal recessive, 612703 (3)
1.492 12 10 12 1p33 TRABD2B, TIKI2 P TRAB domain-containing protein 2B 614913 REc
1.493 9 8 06 1p34.1 BEST4, VMD2L2 P Bestrophin 4 607336 A
1.494 9 10 12 1p32.3 DMRTA2 P Doublesex- and MAB3-related transcription factor A2 614804 REc
1.495 5 4 09 1p33-p32 BMND14 P Bone mineral density quantitative trait locus 14 612728 Fd associated with rs17131547 [Bone mineral density QTL 14] (2)
1.496 12 6 01 1p34.3 MYCBP P MYC-binding protein 606535 A
1.497 5 2 01 1p34.1 AKR1A1, ALR P Aldo-keto reductase family 1, member A1 (aldehyde reductase) 103830 A
1.498 8 9 99 1p34.1 B4GALT2 P Beta-1,4-galactosyltransferase 2 604013 A, REc
1.499 6 15 99 1p32.3 DIO1, TXDI1 P Deiodinase, iodothyronine, type I 147892 A 4(Dio1)
1.500 9 22 95 1p22.1 TGFBR3 P Transforming growth factor, beta receptor III (betaglycan, 300kD) 600742 Psh, A
1.501 10 31 01 1p32.3 DHCR24, KIAA0018 C 24-dehydrocholesterol reductase 606418 REa, REc Desmosterolosis, 602398 (3)
1.502 1 27 11 1p33-p31.1 FWS P Forsythe-Wakeling syndrome 613606 Fd between rs2354462 and rs718883 Forsythe-Wakeling syndrome (2)
1.503 3 17 94 1p35.2 FABP3 C Fatty acid-binding protein 3, muscle 134651 REa, A 4(Fabph1)
1.504 3 24 06 1p32.3 ACOT11, THEA, BFIT, BFIT1, BFIT2, KIAA0707 C Acyl-CoA thioesterase 11 606803 REa, R, H 4(Thea)
1.505 11 19 13 1p34.1 ATP6V0B, ATP6F P ATPase, H+ transporting, lysosomal 21kD, V0 subunit c'' 603717 A, R 4(Atp6v0b)
1.506 12 24 08 1q32.3 BATF3 P Basic leucine zipper transcription factor, ATF-like, 3 612470 REc
1.507 4 6 18 1p32.3 LEXM, C1orf177, LEM P Lymphocyte expansion molecule 616446 REc
1.508 9 14 17 1p32.3 COA7, RESA1, SELRC1, C1orf163 P Cytochrome C oxidase assembly factor 615623 REc mutation identified in 1 COX4D patient ?Mitochondrial complex IV deficiency, 220110 (3)
1.509 8 19 13 1p32.3 GLIS1 P Glis family zinc finger protein 1 610378 REc, R 4(Glis1)
1.510 11 3 14 1p32.3 PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1 C Proprotein convertase, subtilisin/kexin-type, 9 607786 REc, Fd Hypercholesterolemia, familial, 3, 603776 (3); {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
1.511 5 17 04 1p32.3 PODN P Podocan 608661 REc
1.512 7 14 16 1p32.3 PRPF38A, PRP38A P Precursor mRNA-processing factor 38, S. cerevisiae, homolog of, A 617031 REc
1.513 7 3 06 1p32.3 TMEM48, NDC1 P Transmembrane protein 48 610115 R, REc
1.514 8 18 16 1p32.3 TMEM59, DCF1 C Transmembrane protein 59 617084 REc
1.515 6 30 05 1p32.3 TXNDC12, TLP19, ERP18 P Thioredoxin domain-containing protein 12 609448 REc
1.516 5 13 09 1p32.3 USP24, KIAA1057 P Ubiquitin-specific protease 24 610569 R, REc
1.517 6 12 17 1p32.3 YIPF1 P YIP1 domain family, member 1 617521 REc
1.518 11 11 14 1p32.3 ZFYVE9, MADHIP, SARA P Zinc finger, FYVE domain containing 9 603755 REc
1.519 9 10 12 1p32.3 DMRTB1 P Doublesex- and MAB3-related transcription factor B1 614805 REc
1.520 7 2 98 1p32.3 NRD1 C Nardilysin (N-arginine dibasic convertase) 602651 A
1.521 6 9 08 1p32.3 PARS2 P Prolyl-tRNA synthetase 2 612036 REc
1.522 10 26 17 1p32.2 PLPP3, PPAP2B P Phospholipid phosphatase 3 607125 REc
1.523 8 18 16 1p32.2-p32.1 OMA1, MPRP1 C OMA1 zinc metallopeptidase 617081 R, REc
1.524 7 7 15 1p32.1 FGGY, FLJ10986 P FGGY carbohydrate kinase domain-containing protein 611370 REc
1.525 4 17 08 1p32.1 HOOK1, HK1 C Hook, Drosophila, homolog of, 1 607820 REc, A 4(Hook1)
1.526 3 5 08 1p32.3 MRPL37 P Mitochondrial ribosomal protein L37 611843 REc
1.527 8 1 08 1p32.1 MYSM1, 2ADUB, KIAA1915 P MYB-like, SWIRM, and MPN domains-containing protein 1 612176 REc
1.528 8 10 16 1p31.3 DNAJC6, DJC6, KIAA0473, PARK19 P DNAJ, E. coli, homolog of, subfamily C, member 6 608375 R, REc Parkinson disease 19a, juvenile-onset, 615528 (3); Parkinson disease 19b, early-onset, 615528 (3)
1.529 6 18 99 1p31.3 USP1 P Ubiquitin-specific protease 1 603478 A, R
1.530 4 14 11 1p32.2 C8A C Complement component-8, alpha polypeptide 120950 F, A, Ch, Fd C8 deficiency, type I, 613790 (3)
1.531 3 10 11 1p32.2 C8B C Complement component-8, beta polypeptide 120960 F, A, Ch, H, Fd C8 deficiency, type II, 613789 (3) 4(C8b)
1.532 10 6 08 1p32.3 CDCP2 P Cub domain-containing protein 2 612320 REc ?associated with PARK10
1.533 6 18 99 1p32.3 CDKN2C, INK4C P Cyclin-dependent kinase inhibitor 2C 603369 A
1.534 12 31 16 1p32.3 CPT2, IIAE4 C Carnitine palmitoyltransferase II 600650 REa, A formerly at 1p13 CPT II deficiency, myopathic, stress-induced, 255110 (3); CPT II deficiency, infantile, 600649 (3); CPT II deficiency, lethal neonatal, 608836 (3); {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3)
1.535 11 13 94 1p32.3 EPS15 P Epidermal growth factor receptor pathway substrate-15 600051 REc
1.536 2 15 17 1p33 FOXE3, FKHL12, ASMD, CTRCT34, ASGD2, AAT11 P Forkhead box E3 601094 A Anterior segment dysgenesis 2, multiple subtypes, 610256 (3); Cataract 34, multiple types, 612968 (3); {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3)
1.537 6 22 14 1p32.3 GPX7, NPGPX P Glutathione peroxidase 7 615784 REc
1.538 5 24 13 1p35.2 KHDRBS1, SAM68 P KH domain-containing, RNA-binding, signal transduction-associated protein 1 602489 REc
1.539 1 30 01 1p34.2 NFYC, CBFC C Nuclear transcription factor Y, gamma 605344 REc, H 4(Nfyc)
1.540 5 15 11 1p32.3 ORC1, ORC1L P Origin recognition complex, subunit 1, S. cerevisiae, homolog 601902 Psh, A Meier-Gorlin syndrome 1, 224690 (3)
1.541 4 10 15 1p32 PARK10, AAOPD C Parkinson disease 10 606852 Fd max lod at D1S2652; ?associated with CDCP2 {Parkinson disease 10} (2)
1.542 1 5 12 1p34.2 PPT1, CLN1 C Palmitoyl-protein thioesterase 1 600722 Fd, LD, REn, A, REc Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
1.543 3 1 06 1p34.1 PRNPIP, PINT1 P Prion protein-interacting protein 609917 REc, R
1.544 1 20 17 1p34.1 PTCH2 P Patched, Drosophila, homolog of, 2 603673 R, Psh Medulloblastoma, somatic, 155255 (3); Basal cell carcinoma, somatic, 605462 (3); Basal cell nevus syndrome, 109400 (3) 4(Ptch2)
1.545 9 10 14 1p34.2 PTPRF, LAR, BNAH2 P Protein tyrosine phosphatase, receptor type, f polypeptide 179590 A mutation identified in 1 BNAH2 family ?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3) 4(Ptprf)
1.546 1 25 12 1p34.1 RAD54L, HR54, HRAD54 P RAD54, S. cerevisiae, homolog-like 603615 A {Breast cancer, invasive ductal}, 114480 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3); Adenocarcinoma, colonic, somatic (3)
1.547 1 26 93 1p34.2 RLF C Rearranged L-myc fusion sequence 180610 REa, REn <800kb from MYCL1
1.548 5 1 17 1p32.3 SCP2 C Sterol carrier protein-2 184755 Psh, REa mutation identified in 1 LKDMN patient ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3) 4(Scp2)
1.549 9 3 10 1p32 STQTL23 P Stature quantitative trait locus 23 613548 Fd linked to rs628667 {Stature QTL 23} (2)
1.550 6 10 02 1p32.1 TACSTD2, TROP2, M1S1 C Tumor-associated calcium signal transducer 2 137290 REa, A Corneal dystrophy, gelatinous drop-like, 204870 (3)
1.551 8 27 15 1p33 TAL1, TCL5, SCL C T-cell acute lymphocytic leukemia-1 187040 Ch, RE proximal to MYCL1 Leukemia, T-cell acute lymphocytic, somatic, 613065 (3) 4(Scl)
1.552 5 25 13 1p34.1 TESK2 P Testis-specific protein kinase 2 604746 A
1.553 2 12 08 1p33 CMPK1, CMPK, UMPK, UMK, CMK C Cytidine monophosphate (UMP-CMP) kinase 1, cytosolic 191710 S, R, F
1.554 7 28 17 1p32.2 DAB1, SCA37 C Disabled, Drosophila, homolog 1 603448 R, H, Fd Spinocerebellar ataxia 37, 615945 (3) 4(Dab1)
1.555 8 21 91 1p32.1 JUN C Avian sarcoma virus 17 (v-jun) oncogene homolog 165160 REa, A, H 4(Jun)
1.556 2 16 04 1p34.3 MACF1, ACF7, KIAA1251 C Microtubule-actin cross-linking factor 1 608271 R, REc, A 4(Macf1)
1.557 4 11 11 1p31.1 NEXN, NELIN, CMD1CC, CMH20 P Nexilin, rat, homolog of 613121 REc Cardiomyopathy, dilated, 1CC, 613122 (3); Cardiomyopathy, hypertrophic, 20, 613876 (3)
1.558 9 13 89 1p32.3 RAB3B P Brain antigen RAB3B 179510 REb, A
1.559 2 17 09 1p32.3 RNF11 P Ring finger protein 11 612598 Psh, R
1.560 1 22 09 1p31.3 SLC35D1, UGTREL7, KIAA0260, SHNKND C Solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 610804 R, A Schneckenbecken dysplasia, 269250 (3)
1.561 8 8 91 1p21.2 VCAM1 P Vascular cell adhesion molecule-1 192225 REa, A 3(Vcam1)
1.562 3 21 93 1p34.1 IPP P Intracisternal A particle-promoted polypeptide 147485 REa 4(Ipp)
1.563 3 1 05 1p31.3 AK3 C Adenylate kinase-3, mitochondrial 103030 REc, H 4(Ak3)
1.564 4 2 16 1p31.3 ATG4C, APG4C P Autophagy 4, S. cerevisiae, homolog of, C 611339 REc
1.565 8 3 12 1p31.3 DIRAS3, ARHI P DIRAS family, GTP-binding RAS-like protein 3 605193 Psh, A
1.566 6 26 14 1p31.3 DOCK7, KIAA1771, EIEE23 P Dedicator of cytokinesis 7 615730 REc Epileptic encephalopathy, early infantile, 23, 615859 (3) 4(Dock7)
1.567 8 28 17 1p31.3 EFCAB7, KIAA1799 P EF-hand calcium-binding domain-containing protein 7 617632 REc
1.568 9 23 13 1p31.3 GNG12 P Guanine nucleotide-binding protein, gamma 12 615405 REc, R 6(Gng12)
1.569 9 23 13 1p31.3 GNG12AS1 P GNG12 antisense RNA 1 615406 REc
1.570 1 12 11 1p31.3 IL23R, IBD17 P Interleukin 23 receptor 607562 REc {Inflammatory bowel disease 17, protection against}, 612261 (3); {Psoriasis, protection against}, 605606 (3)
1.571 1 17 08 1p31.3 INADL, PATJ P INAD, Drosophila, homolog of 603199 REc, R
1.572 7 17 09 1p31.3 ITGB3BP, NRIF3 P Integrin, beta-3, binding protein of 605494 R, REc
1.573 7 10 93 1p31.3 JAK1 C Janus kinase 1 (a protein-tyrosine kinase) 147795 REa, A, Fd related gene on 9p24 4(Jak1)
1.574 5 4 12 1p31.3 KANK4 P KN motif- and ankyrin repeat domain-containing protein 4 614612 REc
1.575 3 8 16 1p31.3 MEIR1, KIAA1610 P Mesoderm induction-early response protein 1 616848 REc
1.576 3 23 09 1p31.3 MIR101-1, MIRN101-1 P Micro RNA 101-1 612511 REc another locus, MIRN101-2, on 9p24
1.577 3 14 13 1p31.3 OPHLC, C1DUPp31.3, DUP1p31.3 P Omphalocele due to duplication of 1p31.3 164750 Ch duplication of 710kb at 1p31.3 Omphalocele due to duplication of 1p31.3 (4)
1.578 3 14 06 1p31.3 RAVER2, KIAA1579 P Raver2, mouse, homolog of 609953 R, REc
1.579 8 31 17 1p31.3 ROR1, NTRKR1 P Receptor tyrosine kinase-like orphan receptor 1 602336 A mutation identified in 1 DFNB108 family ?Deafness, autosomal recessive 108, 617654 (3)
1.580 7 14 14 1p31.3 SERBP1, PAIRBP1 P Serpine1 mRNA-binding protein 1 607378 REc
1.581 8 20 08 1p31.3 SGIP1 P SH3-domain GRB2-like (endophilin)-interacting protein 1 611540 REc
1.582 12 5 02 1p32.3 SSBP3 P Single-stranded DNA-binding protein 3 607390 REc
1.583 8 19 13 1p31.3 TM2D1, BBP P TM2 domain-containing protein 1 610080 R, REc
1.584 5 6 03 1p32.3 TTC4 P Tetratricopeptide repeat domain 4 606753 A pseudogene on 7p14-p13
1.585 5 26 13 1p31.1 TYW3 P tRNA-wybutosine-synthesizing protein 3, S. cerevisiae, homolog of 611245 REc
1.586 9 23 13 1p31.3 WLS, GPR177, EVI P WNTless, Drosophila, homolog of 611514 REc, R
1.587 7 2 98 1p32.1 CYP2J2 P Cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase), polypeptide 2 601258 REa, A 4(Cyp2j2)
1.588 10 30 17 1p31.3 NFIA, BRMUTD P Nuclear factor I/A 600727 A Brain malformations with or without urinary tract defects, 613735 (3) 4(Nfia)
1.589 11 13 12 1p31.3-p31.1 POROK5, DSAP3 P Porokeratosis 5, disseminated superficial actinic 612293 Fd between D1S438 and D1S464 Porokeratosis 5, disseminated superficial actinic (2)
1.590 4 24 08 1p31.3 DEPDC1 P DEP domain-containing 1 612002 REc
1.591 6 9 98 1p31.3 IL12RB2 C Interleukin 12 receptor, beta-2 601642 A, Psh, R
1.592 9 10 09 1p31.2 PBC3 P Biliary cirrhosis, primary, 3 613008 Fd associated with rs3790567 {Biliary cirrhosis, primary, 3} (2)
1.593 6 15 95 1p31.1 PTGER3, EP3 P Prostaglandin E receptor 3, EP3 subtype 176806 A 3(Ptger3)
1.594 6 30 15 1p31.1 ADGRL2, LPHN2, LPHH1, CIRL2, CL2, KIAA0786 P Adhesion G protein-coupled receptor L2 607018 Ch, REc
1.595 6 30 15 1p31.1 ADGRL4, ETL, ELTD1 C Adhesion G protein-coupled receptor L4 616419 R, H, REc 3(Adgrl4)
1.596 4 5 13 1p31.1 ANKRD13C P Ankyrin repeat domain-containing protein 13C 615125 RE
1.597 5 31 05 1p31.1 CTH C Cystathionine gamma-lyase 607657 R, REc previously assigned to chr.16 Cystathioninuria, 219500 (3); Homocysteine, total plasma, elevated (3)
1.598 4 2 16 1p31.1 DNAJB4, HLJ1 P DNAJ/HSP40 homolog, subfamily B, member 4 611327 REc
1.599 1 29 16 1p31.1 FAM73A, MIGA1 P Miga, Drosophila, homolog of, 1 616773 REc
1.600 5 25 13 1p31.1 FPGT, GFPP P Fucose-1-phosphate guanylyltransferase 603609 REc
1.601 6 1 09 1p31.1 FUBP1, FUBP, FBP P Far upstream element-binding protein 1 603444 REc
1.602 5 25 13 1p31.1 HHLA3 P Human endogenous retrovirus-H long terminal repeat-associating 3 604372 REc
1.603 6 11 11 1p31.1 IFI44L P Interferon-induced protein 44-like 613975 REc
1.604 3 14 07 1p31.1 IFI44, P44 P Interferon-induced protein 44 610468 R, REc
1.605 12 3 07 1p31.1 LHX8 P LIM homeobox 8 604425 REc
1.606 1 30 12 1p31.1 LRRC7, DENSIN, KIAA1365 C Leucine-rich repeat-containing protein 7 614453 Psh, REc
1.607 12 21 09 1p31.1 NEGR1, KILON P Neuronal growth regulator 1 613173 REc
1.608 7 27 09 1p31.1 PIGK, GPI8 P Phosphatidylinositol glycan, class K 605087 REa, REc
1.609 4 18 11 1p31.1 PRKACB P Protein kinase, cAMP-dependent, catalytic, beta 176892 REa, A, REc
1.610 6 16 95 1p31.1 PTGFR P Prostaglandin F receptor (FP) 600563 A 3(Ptgfr)
1.611 12 19 11 1p31.1 SRSF11, SFRS11 P Splicing factor, serine/arginine-rich, 11 602010 REc
1.612 8 19 13 1p31.1 ST6GALNAC3, SIAT7C P ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 610133 R, REc
1.613 7 8 09 1p31.1 ST6GALNAC5, SIAT7E P ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6 sialyltransferase 5 610134 REc
1.614 12 4 14 1p31.1 TNNI3K, CCDD P TNNI3-interacting kinase 613932 REc mutation identified in 1 CCDD family ?Cardiac conduction disease with or without dilated cardiomyopathy, 616117 (3)
1.615 4 8 13 1p31.1 USP33, VDU1 C Ubiquitin-specific protease 33 615146 R, REc
1.616 11 1 01 1p31.3 INSL5 P Insulin-like 5 606413 R
1.617 6 27 08 1p22.3 LPAR3, EDG7, LPA3 P Lysophosphatidic acid receptor 3 605106 R, H 3(Edg7)
1.618 4 27 12 1p31.1-p21.1 SPG29 P Spastic paraplegia 29, autosomal dominant 609727 Fd max lod at D1S2865 Spastic paraplegia 29, autosomal dominant (2)
1.619 6 26 02 1p31.1 ACADM, MCAD P Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain 607008 REa,A Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3) 3(Acadm)
1.620 1 12 07 1p31.1 AK5 P Adenylate kinase 5 608009 R
1.621 5 8 97 1p31 AIR P Acute insulin response 601676 Fd Acute insulin response (2)
1.622 11 19 11 1p31.3 FOXD3, AIS1, VAMAS2 C Forkhead box D3 611539 Fd, Psh, H {Autoimmune disease, susceptibility to, 1}, 607836 (3) 4(Foxd3)
1.623 1 7 11 1p31.3 ANGPTL3, ANGPT5, FHBL2 C Angiopoietin-like 3 604774 R, H Hypobetalipoproteinemia, familial, 2, 605019 (3) 4(Angptl3, hypl)
1.624 4 17 07 1p31 ASRT4 P Asthma-related traits, susceptibility to, 4 610906 Fd max lod at D1S2890 {Asthma-related traits, susceptibility to, 4} (2)
1.625 11 3 09 1p32.3 BSND P Barttin 606412 Fd, REc Bartter syndrome, type 4a, 602522 (3); Sensorineural deafness with mild renal dysfunction, 602522 (3)
1.626 11 6 98 1q22 CLK2 C CDC-like kinase 2 602989 Psh, REn near GDLD and PRKAA2; conflicting assignment 1q21
1.627 6 20 91 1p21.2 DBT, BCATE2 C Dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex) 248610 REa, A pseudogene on 3q24 Maple syrup urine disease, type II, 248600 (3)
1.628 12 11 12 1p31.3 LEPR, OBR, LEPRD P Leptin receptor 601007 H, REc, R, Fd Obesity, morbid, due to leptin receptor deficiency, 614963 (3) 4(Lepr)
1.629 9 7 10 1p31.3 LEPROT, OBRGRP P Leptin receptor overlapping transcript 613461 REc transcribed in same direction as LEPR
1.630 6 2 98 1p31.1 MSH4 P mutS, E. coli, homolog of, 4 602105 A
1.631 7 17 14 1p31 OFC14 P Orofacial cleft 14 615892 Fd Orofacial cleft 14 (2)
1.632 3 26 02 1p31 PAOD1 P Peripheral arterial occlusive disease 1 606787 Fd Peripheral arterial occlusive disease 1 (2)
1.633 10 9 94 1p31.3 PDE4B, DPDE4 C Phosphodiesterase-4B, cAMP-specific (dunce-like phosphodiesterase E4) 600127 RE, A 4(Pde4b)
1.634 6 3 14 1p31.3 PGM1, GSD14, CDG1T C Phosphoglucomutase-1 171900 F, S, R distal to ACADM; formerly 1p22.1 Congenital disorder of glycosylation, type It, 614921 (3) 4(Pgm2)
1.635 3 9 98 1p31.1 PIN1L P Peptidyl-prolyl cis/trans isomerase, NIMA-interacting-like 602051 A ?transcribed pseudogene
1.636 8 17 98 1p32.2 PRKAA2, AMPK P Protein kinase, AMP-activated, alpha-2 catalytic subunit 600497 Psh, A
1.637 2 12 01 1p31.1 RABGGTB C Rab geranylgeranyltransferase, beta subunit 179080 REa, A 3(Rabggtb)
1.638 3 10 11 1p31.3 RPE65, RP20, LCA2 C Retinal pigment epithelium-specific protein, 65kD 180069 REa, A, Fd Leber congenital amaurosis 2, 204100 (3); Retinitis pigmentosa 20, 613794 (3) 3(Rpe65)
1.639 11 18 16 1p22.3 SELENOF, SEP15 P Selenoprotein F 606254 REc
1.640 1 11 95 1p31.1 CRYZ P Crystallin, zeta (quinone reductase) 123691 REa, A
1.641 8 12 01 1p31-p21 AVSD1, AVCD P Atrioventricular septal defect, susceptibility to, 1 606215 Fd {Atrioventricular septal defect, susceptibility to, 1} (2)
1.642 1 30 01 1p31.3 ALG6, CDG1C P Alg6, S. cerevisiae, homolog of 604566 REc Congenital disorder of glycosylation, type Ic, 603147 (3)
1.643 3 11 16 1p22.3 CLCA1, CACC1 P Chloride channel accessory 1 603906 A
1.644 3 11 16 1p22.3 CLCA2 P Chloride channel accessory 2 604003 R
1.645 3 11 16 1p22.3 CLCA3 P Chloride channel accessory 3 604337 R, REc
1.646 3 11 16 1p22.3 CLCA4, CACC2 P Chloride channel accessory 4 616857 REc 3(Clca4)
1.647 5 19 06 1p22.3 COL24A1 P Collagen, type XXIV, alpha-1 610025 REc, R
1.648 01 26 00 1p22.3 CYR61, IGFBP10 C Cysteine-rich angiogenic inducer, 61 (insulin-like growth factor-binding protein-10) 602369 A 3(Igfbp10)
1.649 3 11 09 1p31.1-p22.3 DNASE2B, DLAD P Deoxyribonuclease II beta 608057 A
1.650 1 30 01 1p22.3 LMO4 P LIM domain only 4 603129 A 3(Lmo4)
1.651 11 11 14 1p22.2 BARHL2 P BARH-like 2 605212 R
1.652 8 28 09 1p22.3 MCOLN3 P Mucolipin 3 607400 R, H, REc 3(Mcoln3)
1.653 1 28 08 1p22.2 CCBL2, KAT3 P Cysteine conjugate beta-lyase 2 610656 REc 3(Kat3)
1.654 4 3 14 1p22.2 HFM1, MER3, POF9 P Hfm1, ATP-dependent DNA helicase, S. cerevisiae, homolog of 615684 REc Premature ovarian failure 9, 615724 (3)
1.655 12 23 08 1p22.2 GBP1 C Guanylate binding protein 1, interferon-inducible, 67kD 600411 REa, REc 3(Gbp1)
1.656 12 24 08 1p22.2 GBP2 P Guanylate-binding protein 2, interferon-inducible 600412 REc
1.657 12 24 08 1p22.2 GBP3 P Guanylate-binding protein 3 600413 REc
1.658 12 24 08 1p22.2 GBP4 P Guanylate-binding protein 4 612466 REc
1.659 12 24 08 1p22.2 GBP5 C Guanylate-binding protein 5 611467 REc
1.660 12 24 08 1p22.2 GBP6 P Guanylate-binding protein 6 612467 REc
1.661 12 24 08 1p22.2 GBP7 P Guanylate-binding protein 7 612468 REc
1.662 7 22 09 1p22.2 LRRC8B, TALRRP, KIAA0231 P Leucine-rich repeat-containing protein 8B 612888 REc 5(Lrrc8b)
1.663 7 22 09 1p22.2 LRRC8C, FAD158, AD158 P Leucine-rich repeat-containing protein 8C 612889 REc 5(Lrrc8c)
1.664 7 22 09 1p22.2 LRRC8D, LRRC5 P Leucine-rich repeat-containing protein 8D 612890 REc 5(Lrrc8d)
1.665 11 30 06 1p22.2 PKN2, PRKCL2, PRK2, PAK2 P Protein kinase N2 602549 REc, R
1.666 7 18 14 1p22.2 GTF2B, TFIIB, TF2B P General transcription factor IIb 189963 REc
1.667 4 27 12 1p22.2 ZNF326, ZIRD P Zinc finger protein 326 614601 REc
1.668 8 25 11 1p22.2 ZNF644, MYP21 P Zinc finger protein 644 614159 REc Myopia 21, autosomal dominant, 614167 (3)
1.669 7 21 14 1p22.1 ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 C ATP-binding transporter, retina-specific 601691 R, REc, Fd Stargardt disease 1, 248200 (3); Retinitis pigmentosa 19, 601718 (3); Cone-rod dystrophy 3, 604116 (3); {Macular degeneration, age-related, 2}, 153800 (3); Fundus flavimaculatus, 248200 (3); Retinal dystrophy, early-onset severe, 248200 (3)
1.670 1 14 07 1p22.1 ARHGAP29, PARG1 P RHO GTPase-activating protein 29 610496 R, REc
1.671 7 18 14 1p22.1 BCAR3, SH2D3B, NSP2 P Breast cancer antiestrogen resistance 3 604704 REc
1.672 8 30 17 1p22.1 BRDT, SPGF21 P Bromodomain, testis-specific 602144 R, REc mutation identified in 1 SPGF21 patient ?Spermatogenic failure 21, 617644 (3)
1.673 5 23 13 1p22.1 DNTTIP2, ERBP, FCF2 P DNTT-interacting protein 2 611199 REc
1.674 11 13 96 1p22.1 DR1 P Down-regulator of transcription 1, TBP-binding (negative cofactor 2) 601482 A
1.675 3 27 17 1p22.1 EPHX4, ABHD7 P Epoxide hydrolase 4 617401 REc
1.676 4 2 12 1p22.1 FAM69A P Family with sequence similarity 69, member A 614542 REc
1.677 9 16 12 1p22.1 FNBP1L, TOCA1, C1orf39 P Formin binding protein 1-like 608848 REc
1.678 11 2 11 1p22.1 GCLM, GLCLR C Glutamate-cysteine ligase, modifier subunit 601176 REa, A, REc {Myocardial infarction, susceptibility to}, 608446 (3) 3(Glclr)
1.679 3 22 06 1p22.1 MTF2, PCL2, M96 P Metal-regulatory transcription factor 2 609882 R, REc
1.680 10 13 09 1p22.1 RPAP2, C1orf82 P RNA polymerase II-associated protein 2 611476 R, REc
1.681 2 3 09 1p22.1 RPL5, DBA6 C Ribosomal protein L5 603634 R, RE, REc Diamond-Blackfan anemia 6, 612561 (3)
1.682 3 25 16 1p22.1 TMED5 C Transmembrane p24 trafficking protein 5 616876 REc
1.683 6 7 16 1p31.1 ZRANB2, ZNF265, ZIS P Zinc finger RANBP2-type domain-containing protein 2 604347 A, R
1.684 8 17 12 1p22.1-p13.3 DFNB32 P Deafness, autosomal recessive 32 608653 Fd max lod at D1S21401 Deafness, autosomal recessive 32 (2)
1.685 10 20 15 1p22.3 BCL10, IMD37 P B-cell leukemia/lymphoma 10 603517 Ch mutation identified in 1 IMD37 patient Lymphoma, MALT, somatic, 137245 (3); {Lymphoma, follicular, somatic}, 605027 (3); {Male germ cell tumor, somatic}, 273300, (3); {Sezary syndrome, somatic}, (3); {Mesothelioma, somatic}, 156240 (3); ?Immunodeficiency 37, 616098 (3)
1.686 11 24 98 1p22.2-p22.1 CDC7L1, CDC7 P Cell division cycle 7, S. Cerevisiae, homolog-like 1 603311 R 5(Cdc7l1)
1.687 11 2 04 1p22 CMM4 P Melanoma, cutaneous malignant, 4 608035 Fd between D1S430 and D1S2664 {Melanoma, cutaneous malignant, 4} (2)
1.688 12 5 95 1p22.3 CTBS, CTB P Chitobiase, di-N-acetyl- 600873 Psh, A
1.689 9 9 08 1p13.2 CSDE1, D1S155E, UNR P Cold-shock domain-containing E1, RNA-binding 191510 REn 130bp 5' to NRAS
1.690 11 6 00 1p22.3 DDAH1 P Dimethylarginine dimethylaminohydrolase-1 604743 R, A
1.691 5 19 09 1p21.3 DPYD, DPD C Dihydropyrimidine dehydrogenase 612779 REa, A Dihydropyrimidine dehydrogenase deficiency, 274270 (3); 5-fluorouracil toxicity, 274270 (3)
1.692 12 24 08 1p22.1 EVI5, NB4S P Ecotropic viral integration site 5 602942 Ch
1.693 11 22 16 1p22.1 GFI1, ZNF163, SCN2 C Growth factor independent 1 600871 REa, A mutation identified in 1 SCN2 patient and 1 NICINA patient ?Neutropenia, severe congenital 2, autosomal dominant, 613107 (3); ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3) 5(Gfi1)
1.694 12 5 95 1p22.3 GNG5 P Guanine nucleotide-binding protein (G protein), gamma 5 600874 Psh, A
1.695 7 17 09 1p22.3 HS2ST1 P Heparan sulfate 2-O-sulfotransferase 1 604844 R, REc
1.696 2 14 13 1p22 KAZA2 P Kala-azar, susceptibility to, 2 611381 Fd {Kala-azar, susceptibility to, 2} (2)
1.697 8 28 09 1p22.3 MCOLN2 P Mucolipin 2 607399 R, H, REc incorrectly assigned to chr.3 3(Mcoln2)
1.698 10 25 11 1p21.3 MIR137, MIRN137 P Micro RNA 137 614304 REc
1.699 7 1 05 1p13.1 TRIM45 P Tripartite motif-containing protein 45 609318 REc
1.700 1 4 93 1p22 UOX P Urate oxidase, pseudogene 191540 REa, A nonsense mutations responsible for absence of enzyme in man and hominoid primates [Urate oxidase deficiency] (1)
1.701 3 27 15 1p21.3 ABCD3, PXMP1, PMP70, CBAS5 P ATP-binding cassette, subfamily D, member 3 (peroxisomal membrane protein 1, 70kD) 170995 REa, A mutation identified in 1 CBAS5 family ?Bile acid synthesis defect, congenital, 5, 616278 (3) 3(Pmp70)
1.702 2 20 98 1p21.3 CNN3 P Calponin 3, acidic 602374 A
1.703 10 7 88 1p21.3 F3, TFA C Coagulation factor III 134390 S, REb, Fd, A
1.704 4 22 02 1p22.1 GLML, GVM, VMGLOM C Glomulin 601749 Fd, REc Glomuvenous malformations, 138000 (3)
1.705 4 30 15 1p21.3 ALG14, CMS15 P Alg14, S. cerevisiae, homolog of 612866 REc mutation identified in 1 CMSWTA family ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 (3)
1.706 7 17 14 1p21.3 RWDD3, RSUME P RWD domain-containing protein 3 615875 REc
1.707 1 9 17 1p21.3-p21.2 PLPPR4, LPPR4, PRG1, KIAA0455 P Phospholipid phosphatase-related protein 4 607813 REc
1.708 1 9 17 1p21.3 PLPPR5, LPPR5, PAP2D, PAP2 P Phospholipid phosphatase-related protein 5 617287 REc 3(Plppr5)
1.709 4 21 17 1q21.3 S100A16, AAG13 C S100 calcium-binding protein A16 617437 REc 3(S100a16)
1.710 12 10 12 1p21.3 SNX7 P Sorting nexin 7 614904 REc
1.711 5 11 07 1p13.2 CHIA, TSA1902, CHIT2 P Chitinase, acidic 606080 R
1.712 3 1 06 1p21.3-p13.3 RP32 P Retinitis pigmentosa-32 609913 Fd max lod at D1S485 Retinitis pigmentosa 32 (2)
1.713 8 21 07 1p21.2 DPH5, HSPC143 P DPH5, S. crevisiae, homolog of 611075 R, REc
1.714 12 7 07 1p21.2 FRRS1, SDR2 P Ferric chelate reductase 1 611578 R, REc
1.715 5 11 16 1p21.2 GPR88, STRG, COCPMR C G protein-coupled receptor 88 607468 A, REc mutation identified in 1 COCPMR family ?Chorea, childhood-onset, with psychomotor retardation, 616939 (3)
1.716 3 20 14 1p21.2 PALMD, PALML C Palmdelphin 610182 REc, R, H 3(Palmd)
1.717 5 26 13 1p21.2 RTCD1, RPC P RNA terminal phosphate cyclase domain-containing protein 1 611286 REc, R
1.718 10 13 17 1p21.2 SASS6, SAS6, MCPH14 P SAS-6 centriolar assembly protein 609321 REc mutation identified in 1 MCPH14 family ?Microcephaly 14, primary, autosomal recessive, 616402 (3)
1.719 2 25 08 1p21.2 SLC30A7, ZNT7 C Solute carrier family 30 (zinc transporter), member 7 611149 REc, H 3(Slc30a7)
1.720 6 13 07 1p21.1-p13.3 MRT4 P Mental retardation, autosomal recessive, 4 611107 Fd between D2S429 and D1S187 Mental retardation, autosomal recessive, 4 (2)
1.721 1 11 07 1p13.2 DDX20 C DEAD/H box 20 606168 R, REc
1.722 7 16 14 1p21.1-q21.3 HYPT5, MUHH2 P Hypotrichosis 5 612841 Fd max lod at D1S2881 Hypotrichosis 5 (2)
1.723 3 26 07 1p21.2 AGL, GDE C Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme) 610860 REc, A Glycogen storage disease IIIa, 232400 (3); Glycogen storage disease IIIb, 232400 (3)
1.724 10 23 87 1p21.1 AMY1A C Amylase, salivary, alpha-1A 104700 F, A, REa multiple amylase genes 3(Amy1)
1.725 10 31 91 1p21.1 AMY1B C Amylase, salivary, alpha-1B 104701 REn
1.726 11 4 91 1p21.1 AMY1C C Amylase, salivary, alpha-1C 104702 REn
1.727 9 14 88 1p21.1 AMY2A C Amylase, pancreatic, alpha-2A 104650 F, A, REa 3(Amy2)
1.728 6 4 90 1p21.1 AMY2B C Amylase, pancreatic, alpha-2B 104660 F, A, REa, Fd distal to NGFB
1.729 2 25 11 1p21.1 COL11A1, STL2 C Collagen XI, alpha-1 polypeptide 120280 REb, A Stickler syndrome, type II, 604841 (3); Marshall syndrome, 154780 (3); {Lumbar disc herniation, susceptibility to}, 603932 (3); Fibrochondrogenesis 1, 228520 (3) 3(Col11a1)
1.730 12 22 00 1p13.3 CELSR2, EGFL2, MEGF3 P Cadherin EGF LAG seven-pass G-type receptor 3 (epidermal growth factor-like 2) 604265 Psh, R
1.731 6 2 16 1p21.2 CDC14A, DFNB105 P Cell division cycle 14, S. cerevisiae, homolog A 603504 R Deafness, autosomal recessive 105, 616958 (3)
1.732 7 18 12 1q21.1 FAM72D P Family with sequence similarity 72, member D 614712 REc
1.733 4 6 15 1p13.2 MAGI3, KIAA1634 C Membrane-associated guanylate kinase, WW and PDZ domains-containing, 3 615943 R, H 3(Magi3)
1.734 11 11 14 1p21.1 OLFM3, NOE3 P Olfactomedin 3 607567 REc 3(Olfm3)
1.735 7 27 09 1p13.3 PROK1, PK1, PRK1, EGVEGF P Prokineticin 1 606233 R, REc
1.736 2 16 04 1p21.3 PTBP2, NPTB P Polypyrimidine tract-binding protein 2 608449 REc
1.737 9 18 08 1p21.2 S1PR1, EDG1, S1P1 P Sphingosine-1-phosphate receptor 1 601974 REc
1.738 12 3 01 1p21.2 SLC35A3, AMRS P Solute carrier family 35 (UDP-GlcNAc transporter), member 3 605632 A mutation identified in 1 family ?Arthrogryposis, mental retardation, and seizures, 615553 (3)
1.739 5 23 06 1p21 STQTL7 P Stature quantitative trait locus 7 609822 Fd max lod at D1S1631 {Stature QTL 7} (2)
1.740 8 9 01 1p13.2 BCAS2, DAM1 P Breast carcinoma amplified sequence 2 605783 A
1.741 11 4 93 1p13.3 CD53, MOX44 C CD53 antigen 151525 REa, A 3(Cd53)
1.742 1 9 95 1p13.3 KCNA3 C Potassium voltage-gated channel, shaker-related subfamily, member 3 176263 REa, A mapped probably in error to chr.13
1.743 3 30 00 1p21-p13.3 WS2B P Waardenburg syndrome, type 2B 600193 Fd Waardenburg syndrome, type 2B (2)
1.744 5 9 95 1p13.2 ADORA3 C Adenosine A3 receptor 600445 Fd, REn, H 3(Adora3)
1.745 11 3 09 1p13.3 ALX3, FND1 P Aristaless-like homeobox 3 606014 R Frontonasal dysplasia 1, 136760 (3)
1.746 11 9 13 1p13.2 AMPD1, MMDD P Adenosine monophosphate deaminase-1, muscle 102770 REa, A Myopathy due to myoadenylate deaminase deficiency, 615511 (3) 3(Ampd1)
1.747 10 27 97 1p13.3 CSF1, MCSF C Colony-stimulating factor-1 (macrophage) 120420 A, REa, H incorrectly assigned to chr.5 3(Csfm)
1.748 8 26 15 1p13.3 AHCYL1, DCAL, IRBIT P Adenosylhomocysteine-like 1 607826 Psh, REc
1.749 3 12 14 1p13.3 AMIGO1, ALI2, KIAA1163 P Adhesion molecule with Ig-like domain 1 615689 REc
1.750 6 3 14 1p13.3 AMPD2, SPG63, PCH9 C Adenosine monophosphate deaminase-2, isoform L 102771 H, REa, A mutation identified in 1 SPG63 family ?Spastic paraplegia 63, 615686 (3); Pontocerebellar hypoplasia, type 9, 615809 (3) 3(Ampd2)
1.751 1 13 16 1p13.3 CEPT1 C Choline/ethanolamine phosphotransferase 1 616751 REn, REc
1.752 5 25 13 1p13.2 CHI3L2, YKL39 P Chitinase 3-like 2 601526 REc
1.753 6 20 17 1p13.3 CLCC1, MCLC P Chloride channel CLIC-like 1 617539 REc
1.754 7 17 09 1p13.3 CYMP P Chymosin pseudogene 118943 Psh, REc
1.755 3 14 13 1p13.3-p13.2 DENND2D P DENN/MADD domain-containing protein 2D 615111 REc
1.756 1 9 13 1p13.3 EPS8L3, EPS8R3 P EPS8-like protein 3 614989 REc 3(Eps8l3)
1.757 7 17 09 1p13.3 GPR61 P G protein-coupled receptor 61 606916 Psh, REc
1.758 9 12 93 1p13.3 GSTM1 C Glutathione S-transferase M1 138350 A, REa, Fd, Psh, REn
1.759 9 12 93 1p13.3 GSTM2, GST4 C Glutathione S-transferase M2, muscle 138380 Psh, A, REn
1.760 9 12 93 1p13.3 GSTM3, GST5 P Glutathione S-transferase M3, brain 138390 Psh, A, REn
1.761 11 4 93 1p13.3 GSTM4 C Glutathione S-transferase M4 138333 A, REn, Psh
1.762 7 14 14 1p13.3 HENMT1, C1orf59, HEN1 P Hen1 methyltransferase, arabidopsis, homolog of 612178 REc
1.763 5 19 15 1p13.3 KCNA2, EIEE32 P Potassium channel, voltage-gated, Shaker-related subfamily, member 2 176262 REc Epileptic encephalopathy, early infantile, 32, 616366 (3) 12(Kcna2)
1.764 2 7 17 1p13.3 KCNC4 C Potassium voltage-gated channel, Shaw-related subfamily, member 4 176265 REa, A
1.765 5 24 13 1p13.3 KIAA1324, EIG121 C KIAA1324 gene 611298 R, REc
1.766 8 28 09 1p13.3 GSTM5 P Glutathione S-transferase M5 138385 Psh, A, REn pseudogene on chr.3
1.767 7 31 15 1p13.3 DRAM2, TMEM77, CORD21 P Damage-regulated autophagy modulator 2 613360 REc Cone-rod dystrophy 21, 616502 (3)
1.768 8 19 13 1p13.3 MIR197 P Micro rNA 197 611189 REc
1.769 9 12 08 1p13.3 NTNG1, LMNT1, KIAA0976 P Netrin G1 608818 R, REc
1.770 3 6 08 1p13.3 PRMT6 P Protein arginine N-methyltransferase 6 608274 REc
1.771 7 10 93 1p13.2 RAP1A, KREV1 C RAS-related protein RAP1A 179520 A pseudogene on 14q24.3
1.772 3 23 15 1p13.3 SLC6A17, NTT4, MRT48 P Solute carrier family 6 (neurotransmitter transporter), member 17 610299 REc Mental retardation, autosomal recessive 48, 616269 (3)
1.773 1 31 11 1p13.3 SORT1, NT3, LDLCQ6 P Sortilin 602458 A, REc [Low density lipoprotein cholesterol level QTL6], 613589 (3)
1.774 3 23 18 1p13.3 STRIP1, FAR11A, FAM40A P Striatin-interacting protein 1 617918 REc
1.775 4 20 17 1p13.3 TAF13, TAF2K, MRT60 P TAF13 RNA polymerase II, TATA box-binding protein-associated factor, 18kD 600774 REc Mental retardation, autosomal recessive 60, 617432 (3)
1.776 9 10 07 1p13.3 UBL4B P Ubiquitin-like 4B 611127 REc, H 3(Ubl4b)
1.777 12 4 09 1p13.3 VAV3 P Vav3 oncogene 605541 REc
1.778 4 10 14 1p13.3 WDR47, NEMITIN, KIAA0893 P WD repeat-containing protein 47 615734 REc
1.779 6 3 15 1p13.2 KCND3, KCND3S, KCND3L, SCA19, SCA22, BRGDA9 C Potassium voltage-gated channel, Shal-related subfamily, member 3 605411 A, R, Fd Spinocerebellar ataxia 19, 607346 (3); Brugada syndrome 9, 616399 (3)
1.780 12 28 08 1p13.2 DCLRE1B, SNM1B, APOLLO P DNA cross-link repair protein 1B 609683 REc
1.781 10 11 17 1p12 WARS2, NEMMLAS P Tryptophanyl-tRNA synthetase 2 604733 R Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3)
1.782 4 15 08 1p13.1 CASQ2 P Calsequestrin, fast-twitch, skeletal muscle-2 114251 A Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
1.783 4 27 12 1p13.2 AP4B1, SPG47, CPSQ5 P Adaptor-related protein complex 4, beta-1 subunit 607245 R, REc Spastic paraplegia 47, autosomal recessive, 614066 (3)
1.784 2 25 15 1p13.2 ATP5F1 P ATP synthase, H+ transporting, mitochondrial FO complex, subunit B, isoform 1 603270 REc
1.785 9 21 11 1p13.2 C1orf88, PIFO P Chromosome 1 open reading frame 88 (pitchfork, mouse, homolog of) 614234 REc
1.786 7 17 09 1p13.2 CAPZA1, CAPPA1 P Capping protein, muscle Z-line, alpha-1 601580 REc 3(Capza1)
1.787 3 14 13 1p13.2 CTTNBP2NL P CTTNBP2 N terminus-like protein 615100 REc
1.788 5 30 17 1p13.2 FAM19A3, TAFA3 P Family with sequence similarity 19, member A3, CC motif chemokine-like 617497 REc
1.789 10 23 15 1p13.3 LAMTOR5, HBXIP, XIP P Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 5 608521 R, REc
1.790 1 31 07 1p13.2 MOV10, KIAA1631 P Moloney leukemia virus 10, mouse, homolog of 610742 R, REc
1.791 3 9 17 1p13.2 NR1H5P, FXRB P Nuclear receptor subfamily 1, group H, member 5, pseudogene 617386 REc
1.792 1 4 16 1p13.2 NRAS, ALPS4, NS6, CMNS, NCMS C Neuroblastoma RAS viral (v-ras) oncogene homolog 164790 REa, A cen-CD2-NGFB-NRAS ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, 614470 (3); Noonan syndrome 6, 613224 (3); Epidermal nevus, somatic, 162900 (3); Thyroid carcinoma, follicular, somatic, 188470 (3); Colorectal cancer, somatic, 114500 (3); Melanocytic nevus syndrome, congenital, somatic, 137550 (3); Neurocutaneous melanosis, somatic, 249400 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3) 3(Nras)
1.793 5 25 13 1p13.2 OVGP1 P Oviductal glycoprotein 1 603578 REc
1.794 3 22 06 1p13.2 PPM1J, PP2CZ, PPP2CZ P Protein phosphatase, magnesium-dependent, 1J 609957 REc
1.795 8 3 12 1p13.2 RHOC, ARHC, ARH9, RHOH9 P RAS homolog gene family, member C (oncogene RHO H9) 165380 REa, A incorrectly assigned to chr.5
1.796 7 18 14 1p13.2 RSBN1, ROSBIN P Round spermatid basic protein 1 615858 REc
1.797 12 18 07 1p13.2 SIKE P Suppressor of IKK-epsilon 611656 REc
1.798 7 27 09 1p13.2 SYT6 P Synaptotagmin 6 607718 R, REc
1.799 12 2 09 1p13.2 TSPAN2, NET3 P Tetraspanin 2 613133 REc
1.800 1 17 08 1p13.2 WDR77, MEP50 P WD repeat-containing protein 77 611734 R, REc
1.801 11 24 14 1p13.2 SLC16A1, MCT1, HHF7, MCT1D P Solute carrier family 16 (monocarboxylic acid transporters), member 1 600682 Psh, A Erythrocyte lactate transporter defect, 245340 (3); Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3); Monocarboxylate transporter 1 deficiency, 616095 (3)
1.802 11 20 95 1p13.1 CD2 C CD2 antigen (p50), sheep red blood cell receptor 186990 REa, A, RE 3(Ly37)
1.803 7 13 12 1p13.3 GPSM2, LGN, PINS, DFNB82, CMCS P G protein signaling modulator 2 609245 REc Chudley-McCullough syndrome, 604213 (3)
1.804 4 30 93 1p12 HSD3B1 C Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase, type 1 (placental, peripheral) 109715 Fd, A 3(Hsd3b1)
1.805 4 6 16 1p12 HSD3B2 C Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase, type 2 (adrenal, gonadal) 613890 A Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3) 3(Hsd3b2)
1.806 4 15 98 1p13.3 KCNA10 P Potassium voltage-gated channel, shaker-related subfamily, member 10 602420 A
1.807 8 19 13 1p13.2 OLFML3, OLF44 P Olfactomedin-like 3 610088 REc
1.808 11 24 14 1p13.2 NGF, NGFB, HSAN5 C Nerve growth factor, beta 162030 REa, H, A, Fd, RE same 310kb fragment as TSHB; order: cen-CD2-CD58-ATP1A1-NGF-TSHB-NRAS-tel Neuropathy, hereditary sensory and autonomic, type V, 608654 (3) 3(Ngfb)
1.809 12 2 09 1p13.3 PSRC1, DDA3 P Proline/serine-rich coiled-coil protein 1 613126 REc, H 3(Psrc1)
1.810 3 6 08 1p13.1 SLC22A15, FLIPT1 P Solute carrier family 22 (organic cation transporter), member 15 608275 REc
1.811 10 2 12 1p13.1 TTF2 P Transcription termination factor, RNA polymerase II 604718 REc
1.812 3 29 06 1p13-p12 VCTN1, B7H4, B7X, B7S1 P V-set domain containing T cell activation inhibitor 1 608162 REc, H 3(B7h4)
1.813 3 20 06 1p34.2 PPCS P Phosphopantothenoylcysteine synthetase 609853 REc
1.814 3 20 06 1p12 REG4 P Regenerating islet-derived family, member 4 609846 REc
1.815 6 30 98 1p13.1 PTGFRN, FPRP P Prostaglandin F2 receptor negative regulator 601204 Psh, REc
1.816 10 12 90 1p13.1 CD58, LFA3 C CD58 antigen (lymphocyte function-associated antigen 3) 153420 S, REa, A, RE ?same as MSK1; gene cloned
1.817 6 4 12 1p13.3 GNAI3, ARCND1 C Guanine nucleotide-binding protein (G-protein), alpha-inhibiting activity polypeptide-3 139370 REa, A, Fd Auriculocondylar syndrome 1, 602483 (3) 3(Gnai3)
1.818 4 6 11 1p13.3 GNAT2, ACHM4 C Guanine nucleotide-binding protein (G-protein), alpha-transducing (transducin) activity polypeptide-2 139340 REa, A Achromatopsia 4, 613856 (3) 3(Gnat2)
1.819 7 17 09 1p12 HAO2, HAOX2 P Hydroxyacid oxidase 2 605176 REc
1.820 2 5 15 1p13.1 IGSF3, LCDD P Immunoglobulin superfamily, member 3 603491 A, RE mutation identified in 1 LCDD family ?Lacrimal duct defect, 149700 (3)
1.821 3 15 13 1p13.2 LRIG2, LIG2, KIAA0806, UFS2 C Leucine-rich repeats- and immunoglobulin-like domains-containing protein 2 608869 A, H Urofacial syndrome 2, 615112 (3) 3(Lrig2)
1.822 2 2 01 1p12 MAN1A2 P Mannosidase, alpha, class 1A, member 2 604345 A 3(Man1a2)
1.823 9 10 98 1p13.3 PSMA5, PSC5 P Proteasome component 5 176844 REc
1.824 5 25 00 1p13.2 PHTF1 P Putative homeodomain transcription factor 1 604950 A
1.825 3 27 09 1p13.2 PTPN22, PEP, PTPN8, LYP P Protein tyrosine phosphatase, nonreceptor-type 22 600716 A {Diabetes, type 1, susceptibility to}, 222100 (3); {Rheumatoid arthritis, susceptibility to}, 180300 (3); {Systemic lupus erythematosus susceptibility to}, 152700 (3)
1.826 6 28 01 1p13.3 RBM15, SPEN, OTT P One-twenty two protein (RNA binding motif protein 15; Spen, Drosophila, homolog of) 606077 Ch Megakaryoblastic leukemia, acute (2)
1.827 10 11 17 1p13.3 SARS, SERS, NEDMAS P Seryl-tRNA synthetase 607529 R, REc mutation identified in 1 NEDMAS family ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, 617709 (3)
1.828 8 28 17 1p13.2 ST7L, ST7R P Suppressor of tumorigenicity 7-like protein 617640 REc
1.829 6 9 98 1p13.2 SYCP1, SCP1 P Synaptonemal complex protein-1 602162 A
1.830 12 24 08 1p12 TBX15 P T-box 15 604127 A Cousin syndrome, 260660 (3) 3(Tbx15)
1.831 8 14 15 1p13.2 TRIM33, TIF1G, RFG7, PTC7 P Tripartite motif-containing protein 33 605769 A fused with RET to form PTC7
1.832 9 4 08 1p13.2 TSHB, CHNG4 C Thyroid-stimulating hormone, beta polypeptide 188540 REa, RE, Fd centromeric to NGFB Hypothyroidism, congenital, nongoitrous 4, 275100 (3) 3(Tshb)
1.833 7 24 15 1p13.1 VANGL1, STBM2 P Vang-like 1 610132 REc Caudal regression syndrome, 600145 (3); {Neural tube defects, susceptibility to}, 182940 (3)
1.834 5 23 00 1p13 VUR P Vesicoureteral reflux 193000 Fd Vesicoureteral reflux (2)
1.835 3 2 98 1p13.2 WNT13, XWNT2 P Wingless-type MMTV integration site family, member 13 601968 A
1.836 5 9 01 1p12 HMGCS2 C 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2, mitochondrial 600234 A HMG-CoA synthase-2 deficiency, 605911 (3)
1.837 5 4 00 1p12 WDR3 P WD repeat-containing protein 3 604737 A
1.838 1 29 01 1p12 ADAM30 P A disintegrin and metalloproteinase domain 30 604779 R
1.839 4 12 92 1p13.1 ATP1A1 C ATPase, Na+K+ transporting, alpha-1 polypeptide 182310 REa, REb, A, Fd 3(Atp1a1)
1.840 5 16 11 1p12 NOTCH2, AGS2, HJCYS P Notch, Drosophila, homolog of, 2 600275 REa, A Alagille syndrome 2, 610205 (3); Hajdu-Cheney syndrome, 102500 (3) 3(Notch2)
1.841 6 11 11 1p12 FAM46C P Family with sequence similarity 46, member C 613952 REc
1.842 1 6 97 1p11.2 FCGR1B P Fc fragment of IgG, high affinity Ib, receptor for (CD64) 601502 REa, A
1.843 8 2 13 1p13.3 LRIF1, RIF1 P Ligand-dependent nuclear receptor-interacting factor 1 615354 REc
1.844 9 21 11 1p13.3 NBPF4 P Neuroblastoma breakpoint family, member 4 613994 REc, A
1.845 9 21 11 1p13.3 NBPF5 P Neuroblastoma breakpoint family, member 5 613995 REc, A
1.846 9 21 11 1p13.3 NBPF6 P Neuroblastoma breakpoint family, member 6 613996 REc, A
1.847 9 21 11 1p12 NBPF7 P Neuroblastoma breakpoint family, member 7 613997 REc, A
1.848 10 12 14 1p12 PHGDH, NLS1, PHGDHD P Phosphoglycerate dehydrogenase 606879 A, R Phosphoglycerate dehydrogenase deficiency, 601815 (3); Neu-Laxova syndrome 1, 256520 (3)
1.849 9 24 15 1p12 SPAG17, PF6 P Sperm-associated antigen 17 616554 REc
1.850 7 18 12 1p11.2 SRGAP2C P SLIT-ROBO Rho GTPase-activating protein 2C 614704 REc
1.851 3 6 98 1p21.2 EXTL2 P Exostosin-like 2 602411 A 3(Extl2)
1.852 1 9 95 1p13.1 NHLH2, HEN2 P Nescient helix loop helix 2 162361 REa, A 3(Nscl2)
1.853 7 18 12 1p11.2 FAM72B P Family with sequence similarity 72, member B 614711 REc
1.854 10 15 02 1p11 MNRI P Meningioma, radiation-induced 606190 Ch Meningioma, radiation-induced (2)
1.855 5 4 12 1p ANON1 P Anorexia nervosa, susceptibility to, 1 606788 Fd {Anorexia nervosa, susceptibility to, 1} (2)
1.856 2 5 01 1p PSORS7 P Psoriasis susceptibility 7 605606 Fd {Psoriasis susceptibility 7} (2)
1.857 1 2 91 1q44 ADSS P Adenylosuccinate synthetase (Ade(-)H-complementing) 103060 S 13(Nid)
1.858 11 14 91 1q23.3 HSPA6 P Heat-shock 70kD protein-6 (HSP70B') 140555 REa
1.859 11 14 91 1q23.3 HSPA7 P Heat-shock 70kD protein-7 (HSP70B) 140556 REa
1.860 8 28 97 1q LRE2 P LINE retrotransposable element-2 151628 REa inserted in DMD gene
1.861 2 2 16 1q22 PMF1 C Polyamine-modulated factor 1 609176 R, A, REc
1.862 4 19 12 1q21.1 RBM8A, RBM8B, TAR, C1DELq21.1, DEL1q21.1 P RNA-binding motif protein 8A 605313 Psh, R pseudogene on chr.14 Thrombocytopenia-absent radius syndrome, 274000 (3)
1.863 4 17 01 1q21.3 TMOD4 P Tropomodulin 4, muscle 605834 R 3(Tmod4)
1.864 8 24 09 1q22 DPM3, CDG1O P Dolichyl-phosphate mannosyltransferase 3 605951 REc Congenital disorder of glycosylation, type Io, 612937 (3)
1.865 7 20 09 1q12-q21.3 GNRHR2 P Gonadotropin-releasing hormone receptor 2 612875 REc ?processed pseudogene
1.866 6 3 94 1q21.3 S100A9, CAGB, CFAG P S100 calcium-binding protein A9 (calgranulin B) 123886 REa 3(Cagb)
1.867 9 13 89 1q12-q22 TRNL P tRNA asparagine-like 189890 REa, RE
1.868 9 12 93 1q24.2 DPT P Dermatopontin 125597 REa
1.869 11 9 95 1q22 MEF2D P MADS box transcription enhancer factor 2, polypeptide D (myocyte enhancer factor 2D) 600663 REc 3(Mef2d)
1.870 1 16 01 1q12-q24 CORD8 P Cone-rod dystrophy 8 605549 Fd Cone-rod dystrophy 8 (2)
1.871 7 16 09 1q23.3 DDR2, NTRKR3, TKT P Discoidin domain receptor family, member 2 191311 Psh Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
1.872 4 6 15 1q21.2 ACP6, LPAP, ACPL1 P Acid phosphatase 6, lysophosphatide 611471 A
1.873 8 30 07 1q21 AD13 P Alzheimer disease-13 611152 Fd max lod D1S498 {Alzheimer disease-13} (2)
1.874 9 12 13 1q21.2 ADAMTSL4, TSRC1, ECTOL2 P ADAMTS-like 4 610113 REc, H Ectopia lentis, isolated, autosomal recessive, 225100 (3); Ectopia lentis et pupillae, 225200 (3) 3(Adamtsl4)
1.875 6 18 99 1q21.3 ANXA9, ANX31 P Annexin A9 (annexin XXXI) 603319 A
1.876 8 27 15 1q21.3 ARNT C Aryl hydrocarbon receptor nuclear translocator 126110 REa, Fd, A 3(Arnt)
1.877 5 26 98 1q21.2 BCL9 P B-cell CLL/lymphoma-9 602597 A, Ch
1.878 5 11 00 1q21.2 CA14 P Carbonic anhydrase XIV 604832 A
1.879 2 24 15 1q23.2 CASQ1, VMCQA C Calsequestrin, fast-twitch, skeletal muscle-1 114250 REa, A Myopathy, vacuolar, with CASQ1 aggregates, 616231 (3)
1.880 8 2 13 1q21.3 CELF3, TNRC4, BRUNOL1 P CUGbp- and ELAV-like family, member 3 612678 REc
1.881 9 28 09 1q21.1 CHD1L, ALC1 P Chromodomain helicase DNA-binding protein 1-like 613039 A
1.882 9 9 02 1q21.3 CHRNB2, EFNL3 C Cholinergic receptor, nicotinic, beta polypeptide-2 118507 REa, H, A linked to AMY in mouse Epilepsy, nocturnal frontal lobe, 3, 605375 (3) 3(Acrb2)
1.883 11 28 01 1q21.3 CTMP P C-terminal modulator protein 606388 REc
1.884 9 2 96 1q21.3 CTSK P Cathepsin K 601105 REn, Fd Pycnodysostosis, 265800 (3)
1.885 6 3 94 1q21.3 CTSS P Cathepsin S 116845 A 3(Ctss)
1.886 6 9 98 1q22 DAP3 P Death associated protein 3 602074 A
1.887 3 25 13 1q21.2 ECM1, URBWD C Extracellular matrix protein-1 602201 REc, A Urbach-Wiethe disease, 247100 (3)
1.888 1 6 97 1q21.1 FCGR1C P Fc fragment of IgG, high affinity Ic, receptor for (CD64) 601503 REa, A
1.889 4 18 08 1q21.3 FLG, ATOD2 C Filaggrin 135940 REa, A, REn, Fd Ichthyosis vulgaris, 146700 (3); {Dermatitis, atopic, susceptibility to, 2}, 605803 (3) 3(flg)
1.890 2 17 12 1q22 GBA C Glucosidase, acid beta 606463 S, A, D, Fd pseudogene GBAP ~16kb 3' to GBA Gaucher disease, type I, 230800 (3); Gaucher disease, type II, 230900 (3); Gaucher disease, type III, 231000 (3); Gaucher disease, type IIIC, 231005 (3); Gaucher disease, perinatal lethal, 608013 (3); {Parkinson disease, late-onset, susceptibility to}, 168600 (3); {Lewy body dementia, susceptibility to}, 127750 (3) 3(Gba)
1.891 8 28 97 1q22 GENEY P Gene Y 600986 REn 3(GeneY)
1.892 12 11 07 1q23.1 HDGF P Hepatoma-derived growth factor 600339 Psh, A, REc previously assigned to Chr.X
1.893 3 11 03 1q21.2 HIST2H2AA, H2AFO, H2A P Histone 2, H2aa 142720 A
1.894 1 14 13 1q21.2 HIST2H2AB, H2AB P Histone gene cluster 2, H2A histone family, member B 615014 REc
1.895 3 12 03 1q21.2 HIST2H3C, H3F2 P Histone 2, H3c 142780 REa, A
1.896 9 13 89 1q21.2 H4FN, H4F2 P H4 histone, family 2 142750 REa, A 100-200 histone genes; some on chromosome 6 and 12, as well as perhaps 7
1.897 1 15 04 1q21.1 HJV, HFE2A C Hemojuvelin 608374 Fd, REc between D1S442 and D1S2347 Hemochromatosis, type 2A, 602390 (3)
1.898 4 30 01 1q23.1 IRTA1 P Immunoglobulin superfamily receptor translocation-associated gene 1 605876 REc fused with IGHA1 in multiple myeloma
1.899 4 30 01 1q23.1 IRTA2 P Immunoglobulin superfamily receptor translocation-associated gene 2 605877 REc
1.900 11 4 93 1q21.3 IVL C Involucrin 147360 REa, A, REn
1.901 3 10 00 1q21.3 JTB, PAR P Jumping translocation breakpoint 604671 Ch
1.902 3 4 10 1q21.3 KPRP P Keratinocyte proline-rich protein 613260 REc
1.903 2 17 09 1q21.3 LCE1A, LEP1 P Late cornified envelope protein 1A 612603 REc, H 3(Lce1a)
1.904 2 17 09 1q21.3 LCE1B, LEP2 P Late cornified envelope protein 1B 612604 REc, H 3(Lce1b)
1.905 2 17 09 1q21.3 LCE1C, LEP3 P Late cornified envelope 1C 612605 REc, H 3(Lce1c)
1.906 2 17 09 1q21.3 LCE1D, LEP4 P Late cornified envelope protein 1D 612606 REc, H 3(Lce1d)
1.907 2 17 09 1q21.3 LCE1E P Late cornified envelope protein 1E 612607 REc, H 3(Lce1e)
1.908 2 17 09 1q21.3 LCE1F, LEP6 P Late cornified envelope protein 1F 612608 REc, H 3(Lce1f)
1.909 2 18 09 1q21.3 LCE2A, LEP9 P Late cornified envelope protein 2A 612609 REc, H 3(Lce2a)
1.910 2 18 09 1q21.3 LCE2B, LEP10, XP5 P Late cornified envelope protein 2B 612610 REc, H 3(Lce2b)
1.911 2 18 09 1q21.3 LCE2C, LEP11 P Late cornified envelope protein 2C 612611 REc, H 3(Lce2c)
1.912 2 18 09 1q21.3 LCE2D, LEP12 P Late cornified envelope protein 2D 612612 REc, H 3(Lce2d)
1.913 2 23 09 1q21.3 LCE3A, LEP13 P Late cornified envelope protein 3A 612613 REc, H 3(Lce3a)
1.914 2 23 09 1q21.3 LCE3B, LEP14 P Late cornified envelope protein 3B 612614 REc, H 3(Lce3b)
1.915 2 23 09 1q21.3 LCE3C, LEP15 P Late cornified envelope protein 3C 612615 REc, H 3(Lce3c)
1.916 2 23 09 1q21.3 LCE3D, LEP16 P Late cornified envelope protein 3D 612616 REc, H within intron 2 of LCE3C 3(Lce3d)
1.917 2 23 09 1q21.3 LCE3E, LEP17 P Late cornified envelope protein 3E 612617 REc, H 3(Lce3e)
1.918 2 23 09 1q21.3 LCE4A, LEP8 P Late cornified envelope protein 4A 612618 REc, H 3(Lce4a)
1.919 2 23 09 1q21.3 LCE5A, LEP18 P Late cornified envelope protein 5A 612619 REc, H 3(Lce5a)
1.920 8 20 07 1q21.3 LELP1 P Late cornified envelope-like proline-rich 1 611042 REc
1.921 10 7 10 1q21.3 LOR C Loricrin 152445 REa, A, REn Vohwinkel syndrome with ichthyosis, 604117 (3) 3(lor)
1.922 7 4 95 1q21.2 MCL1 P Myeloid cell leukemia sequence 1 (BCL2-related) 159552 REa, A 3(Mcl1)
1.923 5 23 16 1q21.3 MLLT11, AF1Q P Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 11 604684 Ch
1.924 2 26 08 1q21.3 MRPL9 P Mitochondrial ribosomal protein L9 611824 R
1.925 4 24 08 1q21.2 MRPS21 P Mitochondrial ribosomal protein S21 611984 R, REc 9 pseudogenes
1.926 8 3 99 1q22 MTX1, MTXN P Metaxin 1 600605 H, REn between GBA and TSP3 3(Mtxn)
1.927 7 12 13 1q22 MUC1, PUM, MCKD1 C Mucin 1, transmembrane 158340 REa, A, Fd 5cM proximal to SPTA1 Medullary cystic kidney disease 1, 174000 (3) 3(Muc1)
1.928 11 24 16 1q22 NAXE, APOA1BP, AIBP, PEBEL P NAD(P)HX epimerase 608862 REc Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3)
1.929 12 13 00 1q21.1 PDZK1 P PDZ domain-containing 1 603831 Psh, R
1.930 10 29 03 1q21.3 PGRPIA P Peptidoglycan recognition protein, intermediate, alpha 608197 REc
1.931 10 29 03 1q21.3 PGRPIB P Peptidoglycan recognition protein, intermediate, beta 608198 REc
1.932 7 2 01 1q21.1 PIAS3 P Protein inhibitor of activated STAT3 605987 Psh, R
1.933 1 14 09 1q22 PKLR, PK1 C Pyruvate kinase, liver and RBC type 609712 REa, A, REn Pyruvate kinase deficiency, 266200 (3); Adenosine triphosphate, elevated, of erythrocytes, 102900 (3) 3(Pk1)
1.934 10 21 96 1q23.1 PRCC, RCCP1 C Papillary renal cell carcinoma, translocation-associated 179755 Ch t(X;1)(p11;q21); fuses with TFE3 in RCCP Renal cell carcinoma, papillary, 605074 (3)
1.935 2 20 98 1q21.3 PSMB4 P Proteasome subunit, beta type, 4 602177 A
1.936 4 16 03 1q21 PSORS4 C Psoriasis susceptibility 4 603935 Fd {Psoriasis susceptibility 4} (2)
1.937 2 14 01 1q21 PTCPRN, PRN1 P Papillary thyroid carcinoma with papillary renal neoplasia 605642 Fd Thyroid carcinoma, papillary, with papillary renal neoplasia (2)
1.938 10 17 00 1q21 RFH1, AORF P Renal failure, progressive, with hypertension 161900 Fd Nephropathy-hypertension (2)
1.939 10 28 15 1q21.3 RORC, RORG, RZRG, IMD42 P RAR-related orphan receptor C 602943 Psh, A Immunodeficiency 42, 616622 (3) 3(Rorc)
1.940 3 28 17 1q21.3 RPS27, MPS1, DBA17 P Ribosomal protein S27 603702 R, RE, REc mutation identified in 1 DBA17 patient ?Diamond-Blackfan anemia 17, 617409 (3)
1.941 11 17 94 1q21.3 S100A1 C S100 protein, alpha polypeptide 176940 REb, A, REn
1.942 3 4 10 1q21.3 RPTN P Repetin 613259 REc, A, H 3(Rptn)
1.943 11 17 94 1q21.3 S100A2, S100L P S100 calcium-binding protein A2 176993 REn
1.944 11 17 94 1q21.3 S100A3, S100E P S100 calcium-binding protein A3 176992 REn
1.945 11 17 94 1q21.3 S100A4, CAPL P S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog) 114210 REa, H, REn 3(Capl)
1.946 11 17 94 1q21.3 S100A5, S100D P S100 calcium-binding protein A5 176991 REn, A
1.947 11 17 94 1q21.3 S100A6, CACY C S100 calcium-binding protein A6 (calcyclin) 114110 A, REn 3(Cacy)
1.948 2 9 95 1q21.3 S100A7 C S100 calcium-binding protein A7 600353 REc, A, Fd
1.949 11 26 02 1q21.3 S100A8, CAGA, CFAG C S100 calcium-binding protein A8 (calgranulin A) 123885 S, REa over-expressed in 1q21-linked psoriasis 3(Caga)
1.950 7 11 94 1q21.3 S100A10, CAL1L C S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11)) 114085 H, REn on chr.3 in mouse
1.951 10 14 98 1q21.3 S100A11 P S100 calcium-binding protein A11 603114 A
1.952 10 14 98 1q21.3 S100A12, CAAF1, CGRP P S100 calcium-binding protein A12 603112 REc between S100A8 and S100A9
1.953 3 9 98 1q21.3 S100A13 P S100 calcium-binding protein A13 601989 REc
1.954 1 11 07 1q21.3 S100A14, BCMP84 P S100 Calcium-binding protein A14 607986 A, REn
1.955 5 13 02 1q22 SCAMP3, PROPIN1 P Secretory carrier membrane protein 3 606913 REc
1.956 9 9 11 1q23.3 SDHC, PGL3 C Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD 602413 A, S, M Paragangliomas 3, 605373 (3); Paraganglioma and gastric stromal sarcoma, 606864 (3); Gastrointestinal stromal tumor, 606764 (3)
1.957 1 4 00 1q21.3 SETDB1 C SET domain protein, bifurcated, 1 604396 REa, A, R
1.958 3 10 00 1q23.1 SH2D2A, TSAD P SH2 domain protein 2A 604514 Psh, A
1.959 6 16 95 1q21.3 SHC1 C SHC (Src homology 2 domain-containing) transforming protein-1 600560 REa, A
1.960 10 4 02 1q23.2 SLAMF8, BLAME P SLAM family, member 8 606620 R
1.961 2 15 02 1q21.3 SLC39A1, ZIRTL P Solute carrier family 39 (zinc transporter), member 3 (zinc/iron-regulated transporter-like) 604740 REc 3(Zirtl)
1.962 3 23 06 1q21.3 SMCP, MCSP, MCS P Sperm mitochondria-associated cysteine-rich protein 601148 A
1.963 5 19 15 1q21.3 SPRR4 P Small proline-rich protein 4 616363 REc
1.964 3 11 09 1q23.1 SPTA1, EL2, SPH3, HS3, HPP C Spectrin, alpha, erythrocytic-1 182860 REa, A, Fd 17cM proximal to FY Elliptocytosis-2, 130600 (3); Pyropoikilocytosis, 266140 (3); Spherocytosis, type 3, 270970 (3) 1(Spna1)
1.965 7 4 95 1q22 THBS3, TSP3 L Thrombospondin 3 188062 H 3(Thbs3)
1.966 6 16 99 1q21.3 TUFT1 C Tuftelin 1 600087 A ?mutant in amelogenesis imperfecta
1.967 1 7 02 1q21.1 TXNIP, VDUP1 P Thioredoxin-interacting protein 606599 R, H 3(Txnip)
1.968 6 5 08 1q22 UBQLN4, A1U, C1orf6 P Ubiquitin 4 605440 REc
1.969 2 25 08 1q21.3 VPS72, CFL1, YL1 P Vacuolar protein sorting 72, yeast, homolog of 600607 RE
1.970 6 17 17 1q22 ARHGEF2, GEFH1, KIAA0651, NEDMHM P RHO guanine nucleotide exchange factor 2 607560 R, REc mutation identified in 1 NEDMHM family ?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523 (3)
1.971 8 25 04 1q21-q22 ASPG3 P Asperger syndrome, susceptibility to, 3 608781 Fd max lod at D1S484 {Asperger syndrome susceptibility 3} (2)
1.972 5 11 00 1q23.3 DUSP1, YVH1 P Dual-specificity phosphatase 12 604835 R
1.973 11 5 97 1q22 EFNA1, EPLG1, TNFAIP4 P eph-related receptor tyrosine kinase ligand 1 (tumor necrosis factor, alpha-induced protein 4) 191164 A 3(Epl1)
1.974 11 5 97 1q21.3 EFNA3, EPLG3 P eph-related receptor tyrosine kinase ligand 3 (ephrin A3) 601381 A 3(Epl3)
1.975 11 5 97 1q21.3 EFNA4, EPLG4 P eph-related receptor tyrosine kinase ligand 4 (ephrin-A4) 601380 A 3(Epl4)
1.976 2 28 08 1q23.1 MRPL24 P Mitochondrial ribosomal protein L24 611836 R
1.977 1 11 07 1q23.3 NIT1 P Nitrilase 1 604618 REc, R 1(Nit1)
1.978 4 18 94 1q21.3 NPR1, ANPRA P Natriuretic peptide receptor A/guanylate cyclase A 108960 REa, A
1.979 6 6 00 1q23.1 NTRK1, TRKA, MTC C Neurotrophic tyrosine kinase, receptor, type 1 191315 REa, A TRK = chimera of TPM3 and NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3); Medullary thyroid carcinoma, familial, 155240 (3)
1.980 10 20 99 1q21.3 SELENBP1, SP56 P Selenium-binding protein 1 604188 A
1.981 7 10 93 1q21.3 SPRR1A P Small proline-rich protein 1A 182265 REa, A, REn
1.982 7 10 93 1q21.3 SPRR1B P Small proline-rich protein 1B 182266 REa, A
1.983 7 10 93 1q21.3 SPRR2A P Small proline-rich protein 2A 182267 REa, A, REn about 7 SPRR2 genes
1.984 7 10 93 1q21.3 SPRR2B P Small proline-rich protein 2B 182268 REa, A
1.985 7 10 93 1q21-q22 SPRR2C P Small proline-rich protein 2C 182269 REa, A prob. pseudogene
1.986 7 10 93 1q21.3 SPRR3 P Small proline-rich protein 3 182271 REa, A, REn
1.987 7 18 13 1q21.2 VPS45A, VPS45, SCN5 P Vacuolar protein sorting 45, yeast, homolog of, A 610035 A Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)
1.988 1 11 07 1q23.3 ADAMTS4 C A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 4 (aggrecanase 1) 603876 R, REc
1.989 4 30 91 1q23.2 APCS, SAP C Amyloid P component, serum 104770 REa, A, Fd probably close to CRP {?Amyloidosis, secondary, susceptibility to} (1) 1(Sap)
1.990 2 20 03 1q23.3 APOA2 C Apolipoprotein A-II 107670 REa, A, Fd, RE Apolipoprotein A-II deficiency (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3) 1(Apoa2)
1.991 1 23 18 1q23.2 ATP1A2, FHM2, MHP2 C ATPase, Na+K+ transporting, alpha-2 polypeptide 182340 REa, A, Fd, RE Migraine, familial hemiplegic, 2, 602481 (3); Alternating hemiplegia of childhood 1, 104290 (3); Migraine, familial basilar, 602481 (3) 1(Atpa3)
1.992 1 17 03 1q21-q23 BMND2 C Bone mineral density QTL 2 605833 Fd [Bone mineral density QTL 2] (2)
1.993 3 21 93 1q23.1 CD1A C Thymocyte antigen CD1A 188370 A, REa, REn genes A, B, C, D in cluster 3(Ly38)
1.994 3 21 93 1q23.1 CD1B C Thymocyte antigen CD1B 188360 A, REa, REn
1.995 3 21 93 1q23.1 CD1C C Thymocyte antigen CD1C 188340 A, REa, REn
1.996 3 21 93 1q23.1 CD1D C Thymocyte antigen CD1D 188410 A, REa, H, REn 3(Cd1d)
1.997 10 9 94 1q23.1 CD1E C Thymocyte antigen CD1E 188411 A, REa, REn
1.998 7 2 98 1q23.1 CD5L P CD5 antigen-like (scavenger receptor cysteine rich family) 602592 R, A
1.999 5 1 91 1q23.2 CRP C C-reactive protein 123260 REa, A 1(Crp)
1.1000 9 22 96 1q21-q23 DFNA7 P Deafness, autosomal dominant 7 601412 Fd Deafness, autosomal dominant 7 (2)
1.1001 1 27 04 1q21-q23 DFNA49 P Deafness, autosomal dominant 49 608372 Fd max lod at D1S3784 and D1S3786 Deafness, autosomal dominant 49 (2)
1.1002 9 8 11 1q21-q23 ERVK-7, HERV-KIII, HERV-K102 P Endogenous retrovirus group K, member 7 614013 R, REc
1.1003 12 5 95 1q23.1 ETV3, PE1 P ets variant gene 3 164873 REa, A
1.1004 8 6 15 1q23.3 FCGR2A, IGFR2, CD32 C Fc fragment of IgG, low affinity IIa, receptor for (CD32) 146790 REb, REn, Fd, RE FCG2 and FCG3 within 250kb {Lupus nephritis, susceptibility to}, 152700 (3); {Malaria, severe, susceptibility to}, 611162 (3); {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3) 1(Ly17, Cd32)
1.1005 3 11 03 1q21.2 HIST2H2BE, H2B P Histone 2, H2be 601831 REa, A
1.1006 3 11 03 1q21.2 HIST2H2AC, H2AFQ P Histone 2, H2ac 602797 REc
1.1007 10 24 00 1q23.1 INSRR, IRR C Insulin receptor-related receptor 147671 REa, R
1.1008 3 23 09 1q23.1 PYHIN1, IFIX P Pyrin and Hin domain family, member 1 612677 REc
1.1009 12 21 09 1q21-q23 SLEB14 P Systemic lupus erythematosus, susceptibility to, 14 613145 Fd associated with rs3093061 {Systemic lupus erythematosus, susceptibility to, 14} (2)
1.1010 12 5 95 1q22 SSR2 P Signal sequence receptor, beta 600867 A
1.1011 2 21 14 1q23.2 VANGL2, LTAP P Vang-like 2 (loop-tail, mouse, homolog of) 600533 REc, H Neural tube defects, 182940 (3) 1(Lp)
1.1012 5 4 00 1q23.2 TAGLN2 P Transgelin 2 604634 REc, H 1(Tagln2)
1.1013 2 28 03 1q23.2 ATP1A4, ATP1AL2 P ATPase, Na+/K+ transporting, alpha-4 polypeptide 607321 REc 1(Atp1a4)
1.1014 3 15 11 1p11.2 C1orf152, COAS3 P Chromosome 1 open reading frame 152 608609 REc
1.1015 11 11 14 1q21.1 CD160, BY55 P CD160 antigen 604463 REc
1.1016 12 17 08 1q21.1 DEL1q21, C1DELq21 P Chromosome 1q21.1 deletion syndrome 612474 Ch contiguous gene deletion syndrome Chromosome 1q21.1 deletion syndrome (4)
1.1017 12 17 08 1q21.1 DUP1q21, C1DUPq21 P Chromosome 1q21.1 duplication syndrome 612475 Ch contiguous gene duplication syndrome Chromosome 1q21.1 duplication syndrome (4)
1.1018 3 9 00 1q21.1 FMO5 C Flavin-containing monooxygenase 5 603957 Psh, REc, A
1.1019 5 3 13 1q21.2 GJA8, CX50, CTRCT1, CZP1, CAE1 C Gap junction membrane channel protein alpha-8 (connexin 50) 600897 A, F Cataract 1, multiple types, 116200 (3) 3(Gja8)
1.1020 7 16 09 1q21.1 GPR89A P G protein-coupled receptor 89A 612821 REc
1.1021 7 16 09 1q21.2 GPR89B, GPHR P G protein-coupled receptor 89B 612806 REc
1.1022 3 12 07 1q21.1 HYDIN2, KIAA1864 P Hydin, mouse, homolog of, 2 610813 R, REc duplicated copy 16q22.2
1.1023 5 25 13 1q21.1 ITGA10 P Integrin, alpha-10 604042 REc
1.1024 9 22 09 1q21.1 NBLST6 P Neuroblastoma, susceptibility to, 6 613017 Ch ?contiguous gene deletion or duplication disease {Neuroblastoma, susceptibility to, 6} (2)
1.1025 9 21 11 1q21.1 NBPF10 P Neuroblastoma breakpoint family, member 10 614000 REc
1.1026 9 21 11 1q21.2 NBPF11 P Neuroblastoma breakpoint family, member 11 614001 REc, A
1.1027 9 21 11 1q21.1 NBPF12, COAS1, KIAA1245 P Neuroblastoma breakpoint family, member 12 608607 REc, A
1.1028 9 21 11 1p11.2 NBPF8 P Neuroblastoma breakpoint family, member 8 613998 REc, A
1.1029 9 21 11 1q21.2 NBPF9 P Neuroblastoma breakpoint family, member 9 613999 REc, A
1.1030 9 21 11 1q21.2 NBPF14 P Neuroblastoma breakpoint, member 14 614003 REc, A
1.1031 2 5 07 1q21.1 NBPF15, MGC8902 P Neuroblastoma breakpoint family, member 15 610414 REc, A contains 6 copies of DUF1220 domain
1.1032 9 21 11 1q21.1 NBPF16 P Neuroblastoma breakpoint family, member 16 614005 REc, A
1.1033 9 21 11 1q21.2 NBPF19 P Neuroblastoma breakpoint family, member 19 614006 REc
1.1034 9 21 11 1q21.1 NBPF20 P Neuroblastoma breakpoint family, member 20 614007 REc
1.1035 6 24 15 1q21.1 NBPF17P, NBPF23 P Neuroblastoma breakpoint family, member 17, pseudogene 612970 REc
1.1036 1 20 99 1q23.2 PEA15, HMAT1, PED C Phosphoprotein enriched in astrocytes, 15kD 603434 R, A
1.1037 1 20 17 1q21.1 PEX11B, PEX14B P Peroxisome biogenesis 11B 603867 REc mutation identified in 1 PEX14B patient ?Peroxisome biogenesis disorder 14B, 614920 (3)
1.1038 3 15 11 1q21.2 PDE4DIP, MMGL, KIAA0454, KIAA0477 C Phosphodiesterase 4D-interacting protein 608117 R, REc, A
1.1039 4 26 17 1q21.1 POLR3C, RPC62, RPC3 P Polymerase III, RNA, subunit C 617454 REc
1.1040 4 27 17 1q21.1 POLR3GL P Polymerase III, RNA, subunit G-like 617457 REc
1.1041 3 15 11 1q21.1 PPIAL4A, COAS2 P Peptidylprolyl isomerase A (cyclophilin A)-like 4A 608608 REc
1.1042 11 11 14 1q21.1 PRKAB2 P Protein kinase, AMP-activated, noncatalytic, beta-2 602741 REc
1.1043 7 18 12 1q21.1 SRGAP2B P SLIT-ROBO Rho GTPase-activating protein 2B 614703 REc
1.1044 7 18 12 1q21.1 SRGAP2D P SLIT-ROBO Rho GTPase-activating protein 2D 614705 A
1.1045 8 1 12 1q21.1 UAQTL6 P Uric acid concentration, serum, quantitative trait locus 6 614747 Fd associated with C/T variant at chr1_142697422 [Uric acid concentration, serum, QTL6] (2)
1.1046 7 13 98 1q21.3 PIK4CB P Phosphatidylinositol 4-kinase, catalytic, beta polypeptide 602758 REa, A, R
1.1047 10 23 02 1q21.3 RFX5 C Regulatory factor X, 5 (influences HLA class II expression) 601863 A Bare lymphocyte syndrome, type II, complementation group C, 209920 (3); Bare lymphocyte syndrome, type II, complementation group E, 209920 (3)
1.1048 12 21 09 1q21.2 BOLA1 P BolA, E. coli, homolog of, 1 613181 REc
1.1049 6 22 14 1q21.2 CIART, CHRONO, GM129 P Circadian-associated repressor of transcription 615782 REc
1.1050 7 17 09 1q21.3 ENSA P Endosulfine, alpha 603061 REc
1.1051 11 24 14 1q21.2 FALEC, FAL1 P Focally amplified long noncoding RNA in epithelial cancer 616092 REc
1.1052 3 9 16 1q21.1 FAM72C P Family with sequence similarity 72, member C 616853 REc
1.1053 4 16 14 1q21.2 GJA5, CX40, ATFB11 C Gap junction protein, alpha-5, 40kD (connexin 40) 121013 REa, A, REc Atrial fibrillation, familial, 11, 614049 (3); Atrial standstill, digenic (GJA5/SCN5A), 108770 (3) 3(Gja5)
1.1054 9 2 08 1q21.3 GOLPH3L, GPP34R P Golgi phosphoprotein 3-like 612208 R, REc
1.1055 5 15 15 1q21.2 PRPF3, HPRP3, RP18 C Precursor mRNA-processing factor 3, S. cerevisiae, homolog of 607301 Fd, A Retinitis pigmentosa 18, 601414 (3)
1.1056 4 16 03 1q22 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B C Lamin A/C 150330 A, Fd, R Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3); Cardiomyopathy, dilated, 1A, 115200 (3); Lipodystrophy, familial partial, type 2, 151660 (3); Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3); Charcot-Marie-Tooth disease, type 2B1, 605588 (3); Muscular dystrophy, congenital, 613205 (3); Muscular dystrophy, limb-girdle, type 1B, 159001 (3); Mandibuloacral dysplasia, 248370 (3); Hutchinson-Gilford progeria, 176670 (3); Restrictive dermopathy, lethal, 275210 (3); Heart-hand syndrome, Slovenian type, 610140 (3); Malouf syndrome, 212112 (3) 3(Lmna)
1.1057 1 23 08 1q21.2 OTUD7B, CEZANNE P OTU domain-containing protein 7B 611748 R, REc
1.1058 6 2 15 1q21.2 PLEKHO1, CKIP1 P Pleckstrin homology domain-containing protein, family O, member 1 608335 R, REc
1.1059 6 5 12 1q21.2 SF3B4, SF3B49, SAP49, AFD1 P Splicing factor 3B, subunit 4 605593 R, REc Acrofacial dysostosis 1, Nager type, 154400 (3)
1.1060 5 21 07 1q22 SMG5, EST1B, KIAA1089 P SMG5, C. elegans, homolog of 610962 R, REc
1.1061 6 22 12 1q21.2 SV2A, SV2 P Synaptic vesicle glycoprotein 2A 185860 REc, R
1.1062 8 5 14 1q21.2 TARS2, COXPD21 P Threonyl-tRNA synthetase 2 612805 REc mutation identified in one COXPD21 family ?Combined oxidative phosphorylation deficiency 21, 615918 (3)
1.1063 2 26 16 1q21.3 ZNF687, KIAA1441, PDB6 P Zinc finger protein 687 610568 REc, Ch fused with AML1 in t(1;21) Paget disease of bone 6, 616833 (3)
1.1064 11 4 04 1q23.3 F11R, JAM1 P F11 receptor (junctional adhesion molecule 1) 605721 REc
1.1065 5 27 05 1q21.2 FCGR1A, IGFR1, CD64 C Fc fragment of IgG, high affinity Ia, receptor for (CD64) 146760 REa, H, A [IgG receptor I, phagocytic, familial deficiency of] (3) 3(Fcgr1)
1.1066 8 9 99 1p12 SEC22L1, SEC22B P Secretion deficient 22, S. Cerevisiae, homolog-like 1 604029 R
1.1067 6 30 08 1q21.3 TNFAIP8L2, TIPE2 P Tumor necrosis factor-alpha-induced protein 8-like 2 612112 REc, H 3(Tnfaip8l2)
1.1068 6 28 17 1q23.2 CADM3, IGSF4B, TSLL1, NECL1, SYNCAM3 P Cell adhesion molecule 3 609743 A, H 1(Igsf4b)
1.1069 12 21 09 1q23.1 FCRL1, FCRH1 P Fc receptor-like protein 1 606508 REc
1.1070 11 27 01 1q23.1 FCRH3 P Fc receptor-like protein 3 606510 REc
1.1071 11 27 01 1q23.1 SPAP1, SPAP1A, SPAP1B, SPAP1C P SH2 domain-containing phosphatase anchor protein 1 606509 REc
1.1072 1 30 01 1q21.3 ADAM15, MDC15 P A disintegrin and metalloproteinase domain 15 605548 A
1.1073 1 14 13 1q21.3 ADAR, DRADA, DSH, DSRAD, IFI4, G1P1, AGS6 C Adenosine deaminase, RNA-specific 146920 A, REc, REa Dyschromatosis symmetrica hereditaria, 127400 (3); Aicardi-Goutieres syndrome 6, 615010 (3) 3(Adar)
1.1074 9 27 17 1q21.3 AQP10 P Aquaporin 10 606578 REc
1.1075 9 22 08 1q21.3 ATP8B2, ATPID P ATPase, class I, type 8B, member 2 605867 REc
1.1076 7 20 12 1q21.3 BNIPL, BNIPS, BNIPL1, BNIPL2 P BCL2/adenovirus E1B 19kD protein-interacting protein 2-like 611275 R, REc
1.1077 4 20 17 1q21.3 C1orf43, NS5ATP4, NICE3 P Chromosome 1 open reading frame 43 617428 REc
1.1078 4 19 12 1q21.3 CERS2, LASS2 P Ceramide synthase 2 606920 R
1.1079 9 2 11 1q21.3 CHTOP, C10orf77, SRAG, FOP P Chromatin target of PRMT1 614206 REc
1.1080 1 13 11 1q21.3 CKS1B, CKS1 P CDC28 protein kinase 1B 116900 REc previously to 8q21 by FISH
1.1081 8 4 97 1q23.1 CRABP2, RBP6 C Cellular retinoic acid-binding protein-2 180231 A, REc
1.1082 6 20 07 1q21.3 CREB3L4, CREB4, AIBZIP C cAMP responsive element binding protein 3-like 4 607138 REc, A
1.1083 4 20 17 1q21.3 CRCT1, NICE1, C1orf42 P Cysteine-rich c-terminal 1 617426 REc
1.1084 10 27 08 1q21.3 CRTC2, TORC2 P CREB-regulated transcription coactivator 2 608972 R, REc
1.1085 7 1 16 1q21.3 FLAD1, FADS, LSMFLAD P Flavin adenine dinucleotide synthetase, S. cerevisiae, homolog of 610595 REc Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3)
1.1086 3 31 15 1q21.3 FLG2, IFPS P Filaggrin family, member 2 616284 REc
1.1087 6 7 11 1q21.3 HAX1, SCN3 C HCLS1-associated protein X1 605998 R, REc Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)
1.1088 1 18 06 1q21.3 HORMAD1, NOHMA P HORMA domain-containing 1 609824 REc, H 3(Nohma)
1.1089 2 16 10 1q21.3 HRM2 P Hair morphology 2 (curly hair) 139450 Fd associated with rs11803731 Hair, curly (2)
1.1090 4 10 15 1q21.3 HRNR P Hornerin 616293 REc, H 3(Hrnr)
1.1091 8 1 12 1q21.3 IL6R, IL6RQ, IL6Q C Interleukin-6 receptor 147880 REa, A IL6R-like gene on chr.9 [Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3); [Interleukin 6, serum level of, QTL], 614752 (3)
1.1092 3 23 14 1q21.3 INTS3, INT3, SOSSA P Integrator complex subunit 3 611347 REc
1.1093 9 10 03 1q21.3 KCNN3, SK3, SKCA3 C Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 3 602983 A, Psh, R
1.1094 9 16 12 1q21.3 LINGO4, LRRN6D P Leucine-rich repeat- and Ig domain-containing NOGO receptor-interacting protein 4 609794 REc
1.1095 5 25 13 1q21.3 OAZ3, AZ3 P Ornithine decarboxylase antizyme 3 605138 REc
1.1096 11 13 15 1q21.3 PMVK, PMK, POROK1 P Phosphomevalonate kinase 607622 Psh, REc Porokeratosis 1, multiple types, 175800 (3)
1.1097 1 13 16 1q21.3 POGZ, KIAA0461, MRD37, WHSUS P POGO transposable element with ZNF domain 614787 REc White-Sutton syndrome, 616364 (3)
1.1098 5 25 17 1q21.3 PRUNE1, DRES17, NMIHBA P Prune exopolyphosphatase 1 617413 A Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3)
1.1099 7 27 09 1q21.3 PYGO2 P Pygopus, Drosophila, homolog of, 2 606903 R, REc
1.1100 2 1 11 1q21.3 RAB13 P RAB13, member RAS oncogene family 602672 REc previously assigned to 12q13 by in situ hybridization
1.1101 7 2 02 1q22 RHBG P Rhesus blood group, B glycoprotein 607079 A, H 3(Rhbg)
1.1102 7 18 12 1q21.2 RPRD2 P Regulation of nuclear pre-mRNA domain-containing 2 614695 REc
1.1103 10 2 12 1q21.3 PSMD4, S5A, RPN10 P Proteasome 26S subunit, non-ATPase, 4 601648 REc 3(Psmd4)
1.1104 4 20 17 1q21.3 S100A7A, S100A15, NICE2 P S100 calcium-binding protein A7A 617427 REc
1.1105 8 19 09 1q21.3 SCNM1, MGC3180 P Sodium channel modifier 1 608095 REc
1.1106 4 21 15 1q21.3 SEMA6C, KIAA1869 P Semaphorin 6C 609294 REc 16(Sema6c)
1.1107 2 25 15 1q21.3 SHE P SH2 domain-containing protein E 610482 R, REc
1.1108 7 27 09 1q21.3 SLC27A3, FATP3 P Solute carrier family 27 (fatty acid transporter), member 3 604193 R, REc
1.1109 8 21 08 1q21.3 SNX27, MRT1 P Sorting nexin 27 611541 R, REc
1.1110 8 2 17 1q21.3 SPRR2D P Small proline-rich protein 2D 617587 REc, REn
1.1111 8 2 17 1q21.3 SPRR2E C Small proline-rich protein 2E 617588 REc, REn
1.1112 7 27 17 1q21.3 SPRR2F C Small proline-rich protein 2F 617589 REc
1.1113 7 27 17 1q21.3 SPRR2G C Small proline-rich protein 2G 617590 REc
1.1114 12 23 16 1q21.3 TCHH, THH, THL, TRHY, UHS3 C Trichohyalin 190370 A, RE mutation identified in 1 UHS3 patient ?Uncombable hair syndrome 3, 617252 (3)
1.1115 3 7 14 1q21.3 THEM5, ACOT15 P Thioesterase superfamily member 5 615653 REc, H, REn 3(Them5)
1.1116 7 20 15 1q21.3 UBAP2L, NICE4 P Ubiquitin-associated protein 2-like 616472 REc
1.1117 4 20 17 1q21.3 UBE2Q1, GTAP, NICE5 P Ubiquitin-conjugating enzyme E2Q family member 1 617429 REc
1.1118 9 20 14 1q21.3 ZBTB7B, ZFP67, CKROX, THPOK P Zinc finger- and BTB domain-containing protein 7B 607646 REc
1.1119 3 21 93 1q23.3 CD48, BCM1, BLAST1 C CD48 antigen (B-cell membrane protein) 109530 REa, A, REn 1(Bcm1)
1.1120 4 27 09 1q23.3 ITLN1, INTL, LFR, HL1 C Intelectin 1 609873 Psh, A, REc
1.1121 4 27 09 1q23.3 ITLN2, HL2 P Intelectin 2 609874 Psh, A
1.1122 9 11 95 1q23.3 LY9 P T-lymphocyte surface antigen Ly-9 600684 REn within 410kb of CD48 1(Ly9)
1.1123 10 4 05 1q21.2 ANP32E, LANPL P Acidic leucine-rich nuclear phosphoprotein 32 family, member E 609611 REc
1.1124 12 6 17 1q22 ASH1L, KIAA1420, ASH1, MRD52 P ash1 (absent, small, or homeotic), Drosophila, homolog of 607999 REc Mental retardation, autosomal dominant 52, 617796 (3)
1.1125 3 3 95 1q23.1 IFI16 C Interferon, gamma-inducible protein 16 147586 REa, A
1.1126 3 8 00 1q23.1-q23.2 AIM2 P Absent in melanoma 2 604578 A
1.1127 2 12 09 1q23.3 CD244, NAIL, NKR2B4, SLAMF4 P CD244 antigen 605554 REc {Rheumatoid arthritis, susceptibility to}, 180300 (3)
1.1128 7 6 07 1q23.3 FCGR2B, CD32 P Fc fragment of IgG, low affinity IIb, receptor for 604590 REc {Systemic lupus erythematosus, susceptibility to}, 152700 (3); {Malaria, resistance to}, 611162 (3)
1.1129 11 13 15 1q22 FDPS, FPS, POROK9 P Farnesyl diphosphate synthase 134629 R, REc Porokeratosis 9, multiple types, 616631 (3)
1.1130 8 19 13 1q22 GON4L, KIAA1606 P GON4-like protein 610393 REc
1.1131 3 24 06 1q22 HCN3, KIAA1535 P Hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 609973 R, REc
1.1132 12 4 02 1q21.3 LENEP, LEP503 P Lens epithelial protein 607377 A
1.1133 7 15 13 1q22 LAMTOR2, MAPBPIP, p14 P Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 610389 R, REc Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3)
1.1134 8 20 07 1q22 MEX3A P Mex-3, C. elegans, homolog of, A 611007 REc
1.1135 3 23 09 1q22 MIR9-1, MIRN9-1 P Micro RNA 9-1 611186 REc
1.1136 3 3 95 1q23.1 MNDA P Myeloid cell nuclear differentiation antigen 159553 REa, REn
1.1137 7 25 12 1q23.3 MPZ, CMT1B, CMTDID, CHM, DSS C Myelin protein zero 159440 REb, A, F, Fd, D Charcot-Marie-Tooth disease, type 1B, 118200 (3); Dejerine-Sottas disease, 145900 (3); Neuropathy, congenital hypomyelinating, 605253 (3); Charcot-Marie-Tooth disease, type 2J, 607736 (3); Roussy-Levy syndrome, 180800 (3); Charcot-Marie-Tooth disease, type 2I, 607677 (3); Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3) 1(Mpp)
1.1138 9 22 17 1q22 MSTO1, MMYAT P Misato 1, mitochondrial distribution and morphology regulator 617619 REc Myopathy, mitochondrial, and ataxia, 617675 (3)
1.1139 7 12 94 1q23.2 NHLH1, HEN1 P Nescient helix loop helix 1 162360 H, REa, A closely linked to Sap in mouse 1(Nscl)
1.1140 4 19 12 1q22 PAQR6 P Progestin and ADIPOQ receptor family, member 6 614579 REc
1.1141 9 12 96 1q23.3 PPOX P Protoporphyrinogen oxidase 600923 A Porphyria variegata, 176200 (3)
1.1142 10 25 12 1q23.2 PEX19, PXF, HK33, D1S2223E, PBD12A C Peroxisome biogenesis factor 19 (peroxisomal farnesylated protein) 600279 REa, A Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3)
1.1143 7 29 09 1q22 RAB25, RAB11C C Ras-associated protein RAB25 612942 R, REc
1.1144 8 7 13 1q22 RIT1, RIT, ROC1, NS8 P Ric-like protein without CAAX motif 1 609591 REc Noonan syndrome 8, 615355 (3) 3(Rit)
1.1145 1 26 17 1q22 RUSC1, NESCA C RUN domain- and SH3 domain-containing protein 1 617318 R, REC
1.1146 5 30 17 1q22 RXFP4, RLN3R2, GPR100, GPCR142 P Relaxin/insulin-like family peptide receptor 4 609043 REc 3(Gpr100)
1.1147 11 30 06 1q22 SEMA4A, SEMB, RP35, CORD10 P Semaphorin 4A 607292 REc Retinitis pigmentosa 35, 610282 (3); Cone-rod dystrophy 10, 610283 (3)
1.1148 9 2 08 1q23.3 SH2D1B, EAT2 P SH2 domain-containing 1B 608510 A
1.1149 3 12 07 1q22 SLC25A44 P Solute carrier family 25, member 44 610824 REc 3(Slc25a44)
1.1150 1 21 11 1q22 SLC50A1, RAG1AP1 P Solute carrier family 50 (sugar transporter), member 1 613683 REc
1.1151 4 17 13 1q21.3 SNAPIN, SNAPAP, BLOC1S7, BLOS7 P SNAP-associated protein 607007 R, REc
1.1152 7 16 02 1q23.3 USP21, USP23 P Ubiquitin-specific protease 21 604729 R
1.1153 2 15 17 1q22 YY1AP1, YAP, HCCA2, GRNG P YY1 associated protein 1 607860 REc Grange syndrome, 602531 (3)
1.1154 6 23 98 1q24.1 ALDH9A1, ALDH9, E3 P Aldehyde dehydrogenase 9 family, member A1 602733 A, REa
1.1155 8 13 15 1q23.3 ATF6, ACHM7 P Activating transcription factor-6 605537 REc Achromatopsia 7, 616517 (3)
1.1156 8 5 14 1q24.2 CD247, CD3Z, TCRZ, IMD25 C CD247 antigen 186780 REa, A, REn mutation identified in one IMD25 patient ?Immunodeficiency 25, 610163 (3) 1(T3z, Cd3z)
1.1157 3 17 06 1q23.2 IGSF9, KIAA1355 C Immunoglobulin superfamily, member 9 609738 REc, REn, H 1(Igsf9)
1.1158 8 17 98 1q23.3 LMX1A, LMX1 P LIM homeo box transcription factor-1, alpha 600298 A
1.1159 2 8 11 1q23.2 NCSTN P Nicastrin 605254 REn Acne inversa, familial, 1, 142690 (3)
1.1160 5 9 95 1q24.2 OTF1, OCT1 C Octamer-binding transcription factor-1 164175 REa, REn, A 1(Otf1)
1.1161 5 2 94 1q23.3 RXRG P Retinoid X receptor, gamma 180247 H, A 1(Rxrg)
1.1162 8 24 04 1q23.3 SLAMF1, SLAM, CDW150, CD150 P SLAM family, member 1 603492 REc
1.1163 8 2 13 1q21.3 TPM3, NEM1, CFTD, CAPM1 C Tropomyosin 3 191030 REa, A TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3); CAP myopathy 1, 609284 (3); Myopathy, congenital, with fiber-type disproportion, 255310 (3) 1(Tpm3)
1.1164 7 11 17 1q23.3 USF1, HYPLIP1 C Upstream transcription factor 1 191523 REa, A, Fd {Hyperlipidemia, familial combined, susceptibility to}, 602491 (3) 1(Usf1)
1.1165 7 1 05 1q24.1 UCK2, TSA903 P Uridine/cytidine kinase 2 609329 REc
1.1166 3 22 06 1q23.2 CCDC19, NESG1 P Coiled-coil domain-containing 19 605152 REc
1.1167 4 19 01 1q21.3 PIP5K1A P Phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 603275 A
1.1168 2 2 07 1q24.2 ATP1B1 C ATPase, Na+K+ transporting, beta-1 polypeptide 182330 REa, A, REn [Blood pressure regulation QTL], 145500 (2) 1(Atp1b1)
1.1169 8 9 99 1q23.3 B4GALT3 P Beta-1,4-galactosyltransferase 3 604014 A
1.1170 6 8 01 1q23 BDET P Bleeding disorder, east Texas type 605913 Fd Bleeding disorder, east Texas type (2)
1.1171 1 23 90 1q23 D1S61, D1S111, MS336 P Minisatellite 33.6 157560 REa, A
1.1172 7 13 99 1q22 CCT3, TRIC5 P Chaperonin-containing TCP1, subunit 3, gamma (TCP1 (t-complex-1) ring complex, polypeptide 5) 600114 A 3(Tric5)
1.1173 5 4 12 1q24.2 F5, THPH2, RPRGL1 C Coagulation factor V (proaccelerin, labile factor) 612309 REa, A, Fd, REn Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment Factor V deficiency, 227400 (3); {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3); {Stroke, ischemic, susceptibility to}, 601367 (3); {Budd-Chiari syndrome}, 600880 (3); Thrombophilia due to activated protein C resistance, 188055 (3); {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3) 1(Cf5)
1.1174 11 11 14 1q24.3 FASLG, TNFSF6, APT1LG1, FASL, ALPS1B C Fas ligand (TNF superfamily, member 6) 134638 A Autoimmune lymphoproliferative syndrome, type IB, 601859 (3); {Lung cancer, susceptibility to}, 211980 (3) 1(Fas1)
1.1175 7 10 91 1q23.2 FCER1A C Fc IgE receptor, alpha polypeptide 147140 REa, A 1(Fcer1a)
1.1176 8 11 91 1q23.3 FCER1G P Fc fragment of IgE, high affinity I, receptor for, gamma polypeptide 147139 H, A probably on 1q close to CD32 1(Fcer1a)
1.1177 7 31 08 1q23.3 FCGR2C, CD32C P Fc fragment of IgG, low affinity IIc, receptor for 612169 REc Thrombocytopenic purpura, autoimmune, 188030 (1)
1.1178 3 25 14 1q23.3 FCGR3A, CD16, IGFR3, IMD20 C Fc fragment of IgG, low affinity III, receptor for (CD16) 146740 REb, REn FCGR2A and FCGR3A within 250kb antigen Immunodeficiency 20, 615707 (3)
1.1179 8 3 12 1q23.3 FCGR3B P Fc fragment of IgG, low affinity IIIb, receptor for 610665 REc Neutropenia, alloimmune neonatal (3)
1.1180 7 12 02 1q23.3 FREB P Fc receptor homolog expressed in B cells 606891 REc
1.1181 3 8 00 1q24.1 MGST3 P Glutatione S-transferase, microsomal, 3 604564 A
1.1182 2 2 07 1q23.3 RGS5 P Regulator of G protein signaling-5 603276 Psh, R [Blood pressure regulation QTL], 145500 (2)
1.1183 8 25 04 1q23.3 NDUFS2 P NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kD 602985 REc, A Mitochondrial complex I deficiency, 252010 (3)
1.1184 2 6 08 1q23.3 NUF2, NUF2R, CDCA1 P NUF2, S. cerevisiae, homolog of 611772 R
1.1185 8 28 17 1q23.3 PBX1, CAKUHED C Pre-B cell leukemia transcription factor-1 176310 Ch, A 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) 1(Pbx)
1.1186 6 15 99 1q25.1 TNFSF18, AITRL, GITRL P Tumor necrosis factor ligand superfamily, member 18 603898 R
1.1187 8 30 02 1q24.2 XCL1, SCYC1, SCM1, LTN, LPTN C Chemokine, C motif, ligand 1 (lymphotactin) 600250 H, REa, A 1(Lptn)
1.1188 8 30 02 1q24.2 XCL2, SCYC2, SCM1B P Chemokine, C motif, ligand 2 604828 A
1.1189 2 4 02 1q23.3 SLAMF7, CRACC, CS1 C SLAM family, member 7 606625 REc
1.1190 4 17 01 1q24.2 TBX19 P T-box 19 604614 R Adrenocorticotropic hormone deficiency, 201400 (3)
1.1191 7 1 15 1q23.2 COPA, AILJK P Coatomer protein complex, subunit alpha 601924 A {Autoimmune interstitial lung, joint, and kidney disease}, 616414 (3)
1.1192 4 30 93 1q24.3 FMO1 P Flavin-containing monooxygenase 1, fetal liver 136130 Psh, A
1.1193 6 4 08 1q24.3 FMO2 P Flavin-containing monooxygenase 2, pulmonary 603955 Psh, REc probably cluster of FMO genes at 1q23-q25
1.1194 10 26 97 1q24.3 FMO3, TMAU P Flavin-containing monooxygenase 3 136132 Psh Trimethylaminuria, 602079 (3)
1.1195 6 4 08 1q24.3 FMO4 P Flavin-containing monooxygenase 2, adult liver 136131 REc
1.1196 4 23 08 1q25.1 MRPS14 P Mitochondrial ribosomal protein S14 611978 R, REc
1.1197 12 22 17 1q24.3 PIGC, GPI2, GPIBD16, MRT62 C Phosphatidylinositol glycan, class C 601730 REc, A Glycosylphosphatidylinositol biosynthesis defect 16, 617816 (3)
1.1198 3 20 18 1q24.2 SELE, ELAM1 C Selectin E (endothelial leukocyte adhesion molecule-1) 131210 REn 1(Elam)
1.1199 7 14 11 1q24.2 SELL, LYAM1, LAM1, LNHR C Selectin L (lymphocyte adhesion molecule 1) 153240 A, REn 1(Lnhr)
1.1200 7 31 17 1q24.2 SELP, GRMP C Selectin P (granulocyte membrane protein, 140kD; antigen CD62) 173610 REn, A in same 300kb segment as LYAM1, ELAM1 1(Grmp)
1.1201 3 1 12 1q25.1 SERPINC1, AT3, AT3D, THPH7 C Antithrombin III 107300 F, D, A, REa, Fd ~17cM distal to FY Thrombophilia due to antithrombin III deficiency, 613118 (3) 1(At3)
1.1202 12 22 16 1q23.1 BCAN P Brevican 600347 REc
1.1203 2 22 13 1q21.3 GATAD2B, KIAA1150, p68, MRD18 P GATA zinc finger domain-containing protein 2B 614998 REc Mental retardation, autosomal dominant 18, 615074 (3)
1.1204 1 30 02 1q23.2 IGSF8, PGRL, CD81P3 C Immunoglobulin superfamily, member 8 606644 REc, R
1.1205 4 15 08 1q23.1 ISG20L2 P Interferon-stimulated exonuclease gene 20-kD-like 2 611930 REc
1.1206 6 13 12 1q23.1 KIRREL, NEPH1 P Kin of IRRE-like 607428 REc
1.1207 8 18 04 1q23.3 KIS P Kinase-interacting stathmin 608849 R
1.1208 11 11 14 1q23.1 NES P Nestin 600915 REc
1.1209 12 10 13 1q23.3 NR1I3, CAR, MB67 P Nuclear receptor subfamily 1, group I, member 3 603881 REc
1.1210 8 3 12 1q23.1 PEAR1 P Platelet endothelial aggregation receptor 1 610278 REc, R
1.1211 8 24 04 1q23.2-q23.3 SLAMF6, NTBA P SLAM family, member 6 606446 R, REc
1.1212 11 19 13 1q22 TMEM79, MATT P Transmembrane protein 79 615531 REc, H 3(Tmem79)
1.1213 3 27 17 1q23.2 ACKR1, DARC, FY, GPD, WBCQ1 C Atypical chemokine receptor 1 (Duffy antigen receptor for chemokines) 613665 F, Fc, Fd, A by A, 1q22-q23 [Blood group, Duffy system], 110700 (3); {Malaria, vivax, protection against}, 611162 (3); [White blood cell count QTL], 611862 (3) 1(Fy, Darc)
1.1214 7 18 14 1q23.2 DCAF8, WDR42A, GAN2 P DDB1- and CUL4-associated factor 8 615820 REc mutation identified in 1 GAN2 family ?Giant axonal neuropathy 2, autosomal dominant, 610100 (3)
1.1215 7 7 14 1q23.2 KCNJ9, GIRK3 P Potassium inwardly-rectifying channel, subfamily J, member 9 600932 A
1.1216 9 1 11 1q23.2 KCNJ10, SESAME C Potassium inwardly-rectifying channel, subfamily J, member 10 602208 H, REc SESAME syndrome, 612780 (3); Enlarged vestibular aqueduct, digenic, 600791 (3) 1(Kcnj10)
1.1217 8 23 06 1q23.2 PIGM P Phosphatidylinositol glycan, class M 610273 R, REc Glycosylphosphatidylinositol deficiency, 610293 (3)
1.1218 2 23 08 1q24.2 TIPRL, TIP41, TIP P TIP41-like protein 611807 REc
1.1219 10 3 11 1q23.3 ARHGAP30 P RHO GTPase-activating protein 30 614264 REc
1.1220 9 26 17 1q23.3 CD84, SLAMF5 C CD84 antigen 604513 REc
1.1221 12 3 14 1q23.3 CFAP126, FLTP P Cilia- and flagella-associated protein 126 616119 REc
1.1222 1 11 07 1q23.3 DEDD, DEFT C Death effector domain-containing protein 606841 R, REc
1.1223 12 6 16 1q23.3 FCRLB, FCRL2, FREB2, FCRY P Fc receptor-like protein B 609251 REc
1.1224 12 5 03 1q25.1 GAS5 P Growth arrest-specific 5 608280 REc
1.1225 2 10 11 1q23.3 HSD17B7 P 17-beta-hydroxysteroid dehydrogenase VII 606756 REc
1.1226 3 18 17 1q23.3 KLHDC9, KARCA1 P Kelch domain-containing protein 9 617375 REc
1.1227 6 28 17 1q23.3 NECTIN 4, PVRL4, PRR4, EDSS1 P Nectin 4 609607 REc Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3)
1.1228 1 1 10 1q23.3 NOS1AP, CAPON, KIAA0464 P Nitric oxide synthase 1 (neuronal) adaptor protein 605551 R, REc
1.1229 9 9 10 1q23.3 PFDN2 P Prefoldin 2 613466 REc
1.1230 2 21 10 1q23.3 QTV P QT interval, variation in 610141 Fd associated with rs12143842 [QT interval, variation in] (2)
1.1231 5 5 09 1q23.3 RGS4 P Regulator of G protein signaling 4 602516 REc
1.1232 2 13 12 1q24.2 SLC19A2, THTR1, TRMA, THMD1 C Solute carrier family 19 (thiamine transporter), member 2 603941 Fd, REc Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)
1.1233 12 15 16 1q23.3 SPATA46 P Spermatogenesis-associated protein 46 617257 REc
1.1234 10 12 14 1q23.3 TSTD1, KAT P Thiosulfate sulfurtransferase (rhodanese)-like domain-containing protein 1 616041 REc
1.1235 5 25 13 1q23.3 UAP1, SPAG2 P ADP-N-acetylglucosamine pyrophosphorylase 1 602862 REc
1.1236 5 26 13 1q23.3 UFC1 P Ubiquitin-fold modifier-conjugating enzyme 1 610554 REc
1.1237 1 20 11 1p32.3 ZCCHC11, KIAA0191 C Zinc finger CCHC domain-containing protein 11 613692 R, REc
1.1238 4 9 15 1q24.2 ADCY10, SAC, HCA2 P Adenylyl cyclase 10, soluble 605205 REc {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
1.1239 11 30 00 1q24 DFNM1 P Deafness, nonsyndromic, modifier 1 605429 Fd {Deafness, nonsyndromic, modifier 1} (2)
1.1240 3 9 00 1q25.1 GPR52 P G protein-coupled receptor 52 604106 REc
1.1241 8 31 17 1q24.2 MPZL1, PZR P Myelin protein zero-like 1 604376 REc
1.1242 9 9 10 1q24.2 NME7, MN23H7 P Nonmetastatic cells 7, protein expressed in 613465 REc
1.1243 7 28 11 1q24.2 PRRX1, PMX1, PHOX1, AGOTC C Paired-related homeobox gene 1 167420 H, Fd, A Agnathia-otocephaly complex, 202650 (3) 1(Pmx)
1.1244 5 26 13 1q24.2 RCSD1, CAPZIP P RCSD domain-containing protein 1 610579 REc
1.1245 3 2 98 1q25.1 TNR C Tenascin R (restrictin, janusin) 601995 A, R 4(Tnr)
1.1246 8 17 16 1q25.2 TOR1AIP1, LAP1, LAP1B, LGMD2Y P Torsin A-interacting protein 1 614512 REc mutation identified in 1 LGMD2Y family ?Muscular dystrophy, limb-girdle, type 2Y, 617072 (3)
1.1247 3 29 12 1q25.2 TOR1AIP2, LULL1 P Torsin A-interacting protein 2 614513 REc
1.1248 9 19 13 1q25.2 QSOX1 P Quiescin Q6 sulfhydryl oxidase 1 603120 A
1.1249 2 4 92 1q25.2 ABL2, ABLL, ARG C Abelson murine leukemia viral (v-abl) oncogene homolog 2 (arg, Abelson-related gene) 164690 REa, A, Ch fused with ETV6 in AML Leukemia, acute myeloid, with eosinophilia (1) 1(Abll)
1.1250 8 10 05 1q25.3-q31.1 HMCN1, FBLN6, FIBL6, ARMD1 P Hemicentin (fibulin 6) 608548 REc {Macular degeneration, age-related, 1}, 603075 (3)
1.1251 1 23 01 1q31.1 PRG4, CACP, MSF, SZP, HAPO C Proteoglycan 4 (megakaryocyte stimulating factor; hemangiopoietin) 604283 Fd, A Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3) 1(Prg4)
1.1252 8 28 01 1q25.1 SIP P SIAH1-interacting protein 606186 REc
1.1253 5 12 09 1q24.1 TADA1L, STAF42 P Transcriptional adaptor 1-like 612763 REc
1.1254 5 13 02 1q24.3 VAMP24 P Vesicle-associated membrane protein 4 606909 R, REc
1.1255 9 27 17 1q24.1 GPA33 P Glycoprotein A33 602171 REc
1.1256 5 6 13 1q24.1 LRRC52 P Leucine-rich repeat-containing protein 52 615218 REc
1.1257 9 10 09 1q24.1 MAEL P Maelstrom, Drosophila, homolog of 611368 REc
1.1258 1 29 08 1q25.1-q25.2 RFWD2, COP1 P Ring finger- and WD repeat domain-containing protein 2 608067 REc pseudogenes on chr. 3, 9, 18
1.1259 6 3 14 1q24.1 TMCO1, CFSMR P Transmembrane and coiled-coil domains protein 1 614123 REc Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)
1.1260 7 24 12 1q24.2 BRP44, MPC2 P Brain protein 44 614737 REc
1.1261 3 27 12 1q24.2 DCAF6, IQWD1, NRIP P DDB1 and CUL4 associated factor 6 610494 R, REc
1.1262 4 15 11 1q24.2 GORAB, SCYL1BP1, NTKLBP1, GO P Golgin, RAB6-interacting 607983 R, REc Geroderma osteodysplasticum, 231070 (3)
1.1263 9 24 08 1q24.2 GPR161 P G protein-coupled receptor 161 612250 R, REc
1.1264 7 17 09 1q24.2 KIFAP3, SMAP P Kinesin-associated protein 3 601836 R, REc
1.1265 6 4 13 1q24.2 METTL18, C1orf156 P Methyltransferase-like 18 615255 REc
1.1266 4 6 15 1q24.2 SCYL3, PACE1 P SCY1-like 3, S. cerevisiae, homolog of 608192 REc
1.1267 1 17 08 1q25.2 C1orf76, NDSP P Neuroblastoma-derived secretory protein 611727 REc
1.1268 7 18 12 1q24.3 DNM3, KIAA0820 P Dynamin 3 611445 REc
1.1269 3 23 09 1q24.3 MIR199A2, MIRN199A2 P Micro RNA 199A2 610720 REc
1.1270 3 23 09 1q24.3 MIR214, MIRN214 P Micro RNA 214 610721 REc
1.1271 7 18 11 1q24.3 MIR3120 P Micro RNA 3120 614722 REc in intron 13 of DNM3 in sense orientation
1.1272 3 18 17 1q24.3 PRRC2C, KIAA1096 P Proline-rich coiled-coil protein 3C 617373 REc
1.1273 10 24 12 1q24.3 MYOC, TIGR, GLC1A, JOAG, GPOA C Myocilin (trabecular meshwork-induced glucocorticoid response protein) 601652 REc, R, Fd, A Glaucoma 1A, primary open angle, 137750 (3) 1(Tigr)
1.1274 8 30 07 1q25 AD14 P Alzheimer disease 14 611154 Fd max lod at D1S218 {Alzheimer disease-14} (2)
1.1275 7 13 09 1q25.2 ASTN1, ASTN P Astrotactin 1 600904 A 1(Astn)
1.1276 4 6 18 1q25.3 TRMT1L, C1orf25, TRM1L P tRNA methyltransferase 1-like 611673 REc
1.1277 4 30 09 1q25.3 DHX9, DDX9, NDHII C DEAH (Asp-Glu-Ala-His) box polypeptide 9 603115 H 1(Ddx9)
1.1278 8 21 07 1q25.2 FAM20B P Family with sequence similarity 20, member B 611063 R, REc
1.1279 10 2 09 1q25.2 LHX4, CPHD4 C LIM homeo box gene 4 602146 A, Ch fused to IGH in ALL Pituitary hormone deficiency, combined, 4, 262700 (3)
1.1280 5 31 05 1q25.3 NCF2 C Neutrophil cytosolic factor-2, 65kD 608515 REa, A Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3) 1(Ncf2)
1.1281 9 7 07 1q25.3 NPL, C1orf13, C112 P N-acetylneuraminate pyruvate lyase 611412 REc
1.1282 5 3 07 1q25 PDON2 P Periodontitis, aggressive, 2 608526 Fd between D1S196 and D1S533 Periodontitis, aggressive, 2 (2)
1.1283 12 24 08 1q31.1 PLA2G4A, PLA2G4 P Phospholipase A2, group IVA, cytosolic 600522 A Phospholipase A2, group IV A, deficiency of (3)
1.1284 8 20 07 1q25.3 RGSL1 P Regulator of G protein signaling-like 1 611012 REc
1.1285 8 2 07 1q25 RGSL2 P Regulator of G protein signaling-like 2 611013 REc related to AD linked to 1q25
1.1286 1 24 02 1q25.3 RNASEL, RNS4, PRCA1, HPC1 C Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 180435 A, Fd Prostate cancer 1, 601518 (3)
1.1287 5 21 07 1q25.3 SMG7, EST1C, KIAA0250 C SMG7, C. elegans, homolog of 610964 R, REc
1.1288 3 12 96 1q25.2 SOAT1, STAT, ACAT P Sterol O-acyltransferase 1 (acyl-Coenzyme A: cholesterol acyltransferase 1) 102642 A, REa
1.1289 4 18 05 1q25.1 TNFSF4, GP34, OX4OL P Tumor necrosis factor ligand superfamily, member 4 603594 A, H {Myocardial infarction, susceptibility to}, 608446 (3) 1(Tnfsf4)
1.1290 1 1 95 1q31.1 TPR C Tumor potentiating region (translocated promoter region) 189940 REa, A fused with MET in chemically induced tumor
1.1291 7 12 16 1q25.3 TSEN15, SEN15, C1orf19, PCH2F P tRNA splicing endonuclease 15, S. cerevisiae, homolog of 608756 REc Pontocerebellar hypoplasia, type 2F, 617026 (3)
1.1292 3 8 91 1q22 BGLAP P Bone gamma-carboxyglutamic acid protein 112260 REa, REb 3(Bglap)
1.1293 4 29 97 1q25.3 CACNA1E, CACNL1A6 P Calcium channel, voltage-dependent, alpha 1E subunit 601013 A
1.1294 2 8 17 1q31.2 CDC73, HRPT2, C1orf28 C Cell division cycle protein 73, S. cerevisiae, homolog of 607393 Fd, REc Hyperparathyroidism-jaw tumor syndrome, 145001 (3); Hyperparathyroidism, familial primary, 145000 (3); Parathyroid adenoma with cystic changes, 145001 (3); Parathyroid carcinoma, 608266 (3)
1.1295 2 21 02 1q25.3 LAMC2, LAMNB2, LAMB2T C Laminin, gamma-2 (nicein, 100kD; kalinin, 105kD; BM600, 100kD) 150292 A, Fd Epidermolysis bullosa, junctional, Herlitz type, 226700 (3); Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
1.1296 10 25 10 1q25.2 PDCN, NPHS2, SRN1 C Podocin 604766 REc, Fd modifies phenotype of NPHS1 mutations to FSGS Nephrotic syndrome, type 2, 600995 (3)
1.1297 6 19 98 1q25.3 RGS16 P Regulator of G protein signaling-16 602514 A
1.1298 3 31 03 1q25.2 TOR3A, ADIR P Torsin family 3, member A (ATP-dependent interferon-responsive protein) 607555 REc
1.1299 12 16 93 1q31.1 PDC C Phosducin, pineal gland 171490 H, REa, A 1(Pdc)
1.1300 7 10 92 1q32.1 ATP2B4, ATP2B2, PMCA4 P ATPase, Ca++ transporting, plasma membrane, 4 108732 REa, A, Fd
1.1301 10 8 07 1q25.1 CENPL P Centromeric protein L 611503 REc
1.1302 6 14 07 1q25.1 DARS2, ASPRS. LBSL P Aspartyl-tRNA synthetase 2 610956 R, REc Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
1.1303 12 17 15 1q25.1 KIAA0040 C KIAA0040 gene 616696 Psh, REc
1.1304 9 21 17 1q25.1 KLHL20, KLEIP, KLHLX C Kelch-like 20 617679 REc
1.1305 7 17 09 1q25.1 PRDX6 P Peroxiredoxin 6 602316 REc
1.1306 10 30 06 1q25.1 RC3H1, KIAA2025 P Roquin 609424 REc
1.1307 5 3 17 1q25.1 TNN P Tenascin N 617472 REc
1.1308 6 9 15 1q25.3 XPR1, SYG1, IBGC6 P Xenotropic and polytropic retrovirus receptor 605237 R Basal ganglia calcification, idiopathic, 6, 616413 (3) 1(Xpr1)
1.1309 2 20 98 1q32.1 LAD1 L Ladinin 602314 H 1(Lad1)
1.1310 2 15 18 1q25.2 CEP350, CAP350, KIAA0480 C Centrosomal protein 350 617870 R, REc
1.1311 12 22 17 1q25.2 RALGPS2, FLJ10244 P RAL guanine nucleotide exchange factor with PH domain and SH3 domain-binding motif 2 617819 REc
1.1312 8 3 12 1q25.2 RASAL2, NGAP P Ras protein activator-like 2 606136 REc
1.1313 7 13 09 1q25.2 SEC16B, LZTR2, RGPR, SEC16S P Sec16, S. cerevisiae, homolog of, B 612855 REc
1.1314 10 31 17 1q25.2 TDRD5, TUDOR3 P Tudor domain-containing protein 5 617748 REc
1.1315 5 13 15 1q25.2-q25.3 ACBD6 P Acyl-CoA-binding domain-containing protein 6 616352 REc
1.1316 12 27 13 1q25.2-q25.3 LINC-COX2 P Long intergenic noncoding RNA COX2 615492 REn
1.1317 1 1 95 1q31.1 PTGS2 P Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 600262 REa, A
1.1318 1 16 07 1q25.3 APOBEC4 P Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 4 609908 REc
1.1319 11 11 14 1q25.3 ARPC5, ARC16 P Actin-related protein 2/3 complex, subunit 5 604227 REc
1.1320 7 17 09 1q25.3 IER5 P Immediate-early response gene 5 607177 R, REc
1.1321 5 26 13 1q25.3 IVNS1ABP, NS1BP, ND1 P Influenza virus NS1A protein-binding protein 609209 REc, R
1.1322 8 17 98 1q25.3 MR1, HLALS P Major histocompatibility complex, class I-related 600764 A
1.1323 9 11 12 1q25.3 NMNAT2, PNAT2, KIAA0479 P Nicotinamide nucleotide adenylyltransferase 2 608701 REc
1.1324 7 27 09 1q25.3 RGL1, RGL P Ral guanine nucleotide dissociation stimulator-like 1 605667 R, REc
1.1325 11 2 04 1q25.3 RNF2, RING2, RING1B, HIPI3, DING, BAP1 P RING finger protein 2 608985 R, REc
1.1326 8 1 16 1q25.3 STX6 P Syntaxin 6 603944 REc
1.1327 4 19 06 1q25.3 VDAC4 C Voltage-dependent anion channel 4 610030 Psh, REc
1.1328 7 31 08 1q31.3 ASPM, MCPH5 C Abnormal spindle-like, microcephaly-associated 605481 Fd, REc Microcephaly 5, primary, autosomal recessive, 608716 (3)
1.1329 5 23 00 1q31.2 B3GALT2, GLCT2 P UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 2 603018 REc
1.1330 12 13 00 1q31 BOS2 P Branchiootic syndrome 2 120502 Fd Branchiootic syndrome 2 (2)
1.1331 5 12 09 1q31 CELIAC7 P Celiac disease, susceptibility to, 7 612005 Fd associated with rs2816316 {Celiac disease, susceptibility to, 7} (2)
1.1332 1 24 93 1q32.1 CTSE C Cathepsin E 116890 REa, A, Fd closely linked to REN
1.1333 3 29 06 1q25.3 GLUL, GLNS C Glutamate-ammonia ligase (glutamine synthase) 138290 Psh, A, REc pseudogene on chr.9 Glutamine deficiency, congenital, 610015 (3)
1.1334 3 30 18 1q32.1 KIF14, KIAA0042, MKS12, MCPH20 C Kinesin family member 14 611279 Psh, REc, H mutation identified in 1 MKS12 family ?Meckel syndrome 12, 616258 (3); Microcephaly 20, primary, autosomal recessive, 617914 (3) 1(Kif14)
1.1335 10 29 96 1q31.2 RGS2, G0S8 P G0 to G1 switch regulatory 8, 24kD 600861 A
1.1336 10 15 09 1q25.3 LAMC1, LAMB2 C Laminin, gamma-1 (formerly LAMB2) 150290 REa, Fd at least 3 genes, ?linked 1(Lamb2)
1.1337 3 21 07 1q32.3 LQK1 P LQK1 protein 610864 REc
1.1338 1 24 03 1q31 MGR6, FHM3 P Migraine, several forms 607516 Fd {Migraine with or without aura, susceptibility to, 6} (2); {Migraine, familial hemiplegic, 4} (2)
1.1339 2 6 08 1q32.1 NAV1, POMFIL3, KIAA1151 P Neuron navigator 1 611628 R
1.1340 8 17 98 1q32.1 PFKFB2 P Fructose-2,6-bisphosphatase, cardiac isozyme 171835 REa, A
1.1341 6 27 02 1q32.1 PHLDA3, TIH1 P Pleckstrin homology-like domain, family A, member 3 607054 REc 1(Phlda3)
1.1342 10 15 09 1q31 PVOP1 P Pelvic organ prolapse, susceptibility to, 1 176780 Fd associated with rs10911193 {Pelvic organ prolapse, susceptibility to, 1} (2)
1.1343 6 11 97 1q31.2 RGS1, IER1, IR20 P Regulator of G-protein signaling 1 600323 A
1.1344 6 23 15 1q32.1 UBE2T, HSPC150, FANCT P Ubiquitin-conjugating enzyme E2T 610538 R, REc Fanconi anemia, complementation group T, 616435 (3)
1.1345 3 8 07 1q31.2 TROVE2, RO60, SSA2 C TROVE domain family, member 2 600063 A
1.1346 4 17 13 1q32.1 CDK18, PCTK3 P Cyclin-dependent kinase 18 169190 A
1.1347 7 27 11 1q32.1 CHIT, CHITD C Chitotriosidase 600031 Fd, A [Chitotriosidase deficiency], 614122 (3)
1.1348 1 1 12 1q32.1 IL10, CSIF, GVHDS C Interleukin-10 124092 Psh, R {HIV-1, susceptibility to}, 609423 (3); {Graft-versus-host disease, protection against}, 614395 (3); {Rheumatoid arthritis, progression of}, 180300 (3)
1.1349 7 17 09 1q32.1 KIF21B, KIAA0449 P Kinesin family member 21B 608322 R, REc 1(Kif21b)
1.1350 6 26 01 1q31.3 LHX9 P LIM homeo box gene 9 606066 REc 1(Lhx9)
1.1351 7 22 09 1q31.3-q32.1 PTPRC, CD45, LCA C Protein tyrosine phosphatase, receptor type, c polypeptide 151460 A, S {Hepatitis C virus, susceptibility to}, 609532 (3); Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3) 1(Ly5)
1.1352 3 8 07 1q32.1 SLC41A1 P Solute carrier family 41, member 1 610801 REc 1(Slc41a1)
1.1353 7 22 09 1q31.3 CFHR1, FHR1, HFL1, CFHL1 P Complement factor H-related 1 134371 R {Macular degeneration, age-related, reduced risk of}, 603075 (3); {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
1.1354 7 22 09 1q31.3 CFHR2, FHR2, HFL3, CFHL2 C Complement factor H-related 2 600889 REc, R in same 165kb YAC as F13B
1.1355 7 22 09 1q31.3 CFHR3, FHR3, HLF4, CFHL3 P Complement factor H-related 3 605336 R {Macular degeneration, age-related, reduced risk of}, 603075 (3); {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
1.1356 7 22 09 1q31.3 CFHR4, FHR4, CFHL4 P Complement factor H-related 4 605337 R
1.1357 3 28 11 1q31.3 CRB1, RP12, LCA8 C Crumbs, Drosophila, homolog of, 1 604210 Fd, REc Retinitis pigmentosa-12, autosomal recessive, 600105 (3); Leber congenital amaurosis 8, 613835 (3); Pigmented paravenous chorioretinal atrophy, 172870 (3)
1.1358 3 21 93 1q31.3 F13B C Coagulation factor XIII, B polypeptide 134580 Fd, A, RE Factor XIIIB deficiency, 613235 (3) 1(F13b)
1.1359 12 3 90 1q32.1 MYOG, MYF4 C Myogenic factor-4; myogenin 159980 REa, A 1(Myog)
1.1360 6 4 97 1q31-q42 PHA2A, PHA2 P Pseudohypoaldosteronism type IIA 145260 Fd Pseudohypoaldosteronism, type IIA (2)
1.1361 7 14 11 1q32.1 PIGR C Polymeric immunoglobulin receptor 173880 REa, A, Fd
1.1362 1 20 11 1q42.13 PSEN2, AD4, STM2, CMD1V C Presenilin 2 600759 Psh, REc, REn Alzheimer disease-4, 606889 (3); Cardiomyopathy, dilated, 1V, 613697 (3)
1.1363 8 31 17 1q31.1 PACERR, PTGS2AS1 P PTGS2 antisense NFKB1 complex-mediated expression regulator RNA, noncoding 617650 REc
1.1364 12 30 05 1q31.1 PSNP2 P Supranuclear palsy, progressive, 2 609454 Fd between D1S238 and D1S2823 Supranuclear palsy, progressive, 2 (2)
1.1365 12 18 08 1q31.2 RGS21 P Regulator of G protein signaling 21 612407 REc 1(Rgs1)
1.1366 4 4 02 1q31.2 GLRX2, GRX2 P Glutaredoxin 2 606820 REc
1.1367 3 15 10 1q31.3 DENND1B, FAM31B, C1orf18 P DENN/MADD domain-containing 1B 613292 REc
1.1368 12 21 10 1q32.3 FLVCR1, AXPC1, PCARP P Feline leukemia virus subgroup C receptor 1 609144 R Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)
1.1369 4 25 06 1q31.3 KCNT2, SLICK, EIEE57 P Potassium channel, subfamily T, member 2 610044 REc mutation identified in 1 EIEE57 patient ?Epileptic encephalopathy, early infantile, 57, 617771 (3)
1.1370 5 11 09 1q32.1 MIR181A1, MIR213, MIRN181A1 P Micro RNA 181A1 612742 REc
1.1371 5 11 09 1q32.1 MIR181B1, MIRN181B1 P Micro RNA 181B1 612744 REc
1.1372 4 15 02 1q31.3 NEK7 P Never-in-mitosis gene A-related kinase 7 606848 Psh, R
1.1373 7 5 90 1q32.1 TNNI1 C Troponin-I, skeletal, slow 191042 REa, Psh 1(Tnni1)
1.1374 4 16 14 1q31.3-q32.1 NYS7 C Nystagmus 7, congenital, autosomal dominant 614826 Fd between D1S218 and D1S2655 Nystagmus 7, congenital, autosomal dominant (2)
1.1375 8 17 98 1q32.1 AVPR1B, AVPR3 P Arginine vasopressin receptor-1B 600264 A
1.1376 5 9 97 1q32.1 BTG2, PC3 P B-cell translocation gene 2 (pheochromocytoma cell-3) 601597 REa, A
1.1377 7 9 90 1q32.2 C4BPA C Complement component 4-binding protein, alpha polypeptide 120830 F, REa, A, RE same RE fragment as C4BPB 1(C4bp)
1.1378 7 9 90 1q32.1 C4BPB P Complement component 4-binding protein, beta polypeptide 120831 RE, A
1.1379 4 22 10 1q32.1 CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1 C Calcium channel, voltage-dependent, L type, alpha 1S subunit 114208 H, REa, A, Fd in mouse, mutation causes muscular dysgenesis Hypokalemic periodic paralysis, type 1, 170400 (3); {Malignant hyperthermia susceptibility 5}, 601887 (3); {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3) 1(Cchl1a3, mdg)
1.1380 3 11 92 1q32.2 CD34 C CD34 antigen 142230 REa, A 1(Cd34)
1.1381 8 11 17 1q32.2 CD55, DAF, CROM, CHAPLE C CD55 antigen (blood group Cromer) 125240 REa, A [Blood group Cromer], 613793 (3); Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3)
1.1382 6 6 16 1q31.3 CFH, HF1, HUS, ARMD4, AHUS1 C Complement factor H 134370 F, REa, RE, H, Fd {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3); Complement factor H deficiency, 609814 (3); {Macular degeneration, age-related, 4}, 610698 (3); Basal laminar drusen, 126700 (3) 1(Cfh)
1.1383 12 21 12 1q31.3 CFHR5, CFHL5, FHR5, CFHR5D P Complement factor H-related 5 608593 A, R, REc Nephropathy due to CFHR5 deficiency, 614809 (3)
1.1384 7 6 07 1q32.2 CR1, C3BR C Complement component (3b/4b) receptor-1 120620 F, REa, A, RE CR1 deficiency (1); {?SLE susceptibility} (1); [Blood group, Knops system], 607486 (3); {Malaria, severe, resistance to}, 611162 (3)
1.1385 4 30 01 1q32.2 CR1L P Complement component receptor 1-like 605886 REc
1.1386 7 6 12 1q32.2 CR2, C3DR, SLEB9, CVID7 C Complement component (3d/Epstein-Barr virus) receptor-2 120650 F, REa, A, RE {Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3); Immunodeficiency, common variable, 7, 614699 (3) 1(Cr2)
1.1387 5 12 99 1q32.1 CSRP1, CSRP C Cysteine and glycine-rich protein-1 123876 REa, A 3(Csrp)
1.1388 3 20 09 1q32.1 CYB5BR1, NQO3A2, B5R.1 P Cytochrome b5 reductase 1 608341 REc
1.1389 11 13 98 1q32.1 ELF3, ESX P E74-like factor 3 (ETS domain transcription factor, serine box, epithelial-specific) 602191 A
1.1390 1 1 95 1q32.1 ELK4, SAP1 P ELK4, ETS-domain protein (SRF accessory protein 1) 600246 A 1(Elk4)
1.1391 7 18 12 1q32.1 FAM72A, LMPIP, UGENE P Family with sequence similarity 72, member A 614710 REc
1.1392 9 8 11 1q32 GFND1 P Glomerulopathy with fibronectin deposits 1 137950 Fd max lod at D1S2782 Glomerulopathy with fibronectin deposits 1 (2)
1.1393 3 10 05 1q32.2 HHAT, MART2, SKI1 C Hedgehog acyltransferase 605743 REc
1.1394 2 28 01 1q32.1 IL19 P Interleukin 19 605687 R
1.1395 2 7 01 1q32.1 IL20 P Interleukin 20 605619 R 1(Il20)
1.1396 6 27 01 1q32.1 IL24, ST16, MDA7 C Interleukin 24 (suppression of tumorigenicity 16) 604136 R
1.1397 7 22 09 1q32.1 KDM5B, JARID1B, PUT1, PLU1, RBBP2H1A P Lysine-specific demethylase 5B 605393 A
1.1398 10 23 14 1q32.1 KISS1, HH13 C KISS1 metastasis suppressor 603286 A, R mutation identified in 1 HH13 family ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
1.1399 2 12 15 1q32.2 LAMB3, AI1A P Laminin, beta-3 (nicein, 125kD; kalinin, 140kD; BM600, 125kD) 150310 Fd Epidermolysis bullosa, junctional, Herlitz type, 226700 (3); Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3); Amelogenesis imperfecta, type IA, 104530 (3)
1.1400 2 4 02 1q32.1 LGR6 P Leucine-rich repeat-containing G protein-coupled receptor-6 606653 A
1.1401 11 11 14 1q32.1 LMOD1, SMLMOD, 1D P Leiomodin 1 602715 REc
1.1402 8 17 09 1q32.2 MCP, CD46, AHUS2 C Membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen) 120920 REa, A, REn {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3)
1.1403 6 19 98 1q32.1 MDM4 P Mouse double minute 4, homolog of 602704 A 1(Mdm4)
1.1404 5 29 12 1q32.1 NUAK2, SNARK P NUAK family, SNF1-like kinase, 2 608131 A
1.1405 2 2 10 1q32 PARK16 P Parkinson disease 16 613164 Fd associated with rs823128 {Parkinson disease 16} (2)
1.1406 3 25 15 1q32 PFHB2 P Progressive familial heart block, type II 140400 Fd between D1S70 and D1S505 Progressive familial heart block, type II (2)
1.1407 7 14 98 1q32.1 PIK3C2B P Phosphatidylinositol 3-kinase, class 2, beta polypeptide 602838 A
1.1408 3 6 01 1q32.1 PKP1 C Plakophilin-1 601975 Psh, A Ectodermal dysplasia/skin fragility syndrome, 604536 (3)
1.1409 10 15 97 1q32.1 PRELP P Proline arginine-rich end leucine-rich repeat protein 601914 A
1.1410 12 17 17 1q32-q41 PTPN14, PEZ, CATLPH C Protein tyrosine phosphatase, nonreceptor-type, 14 603155 A, REn, Fd mutation identified in 1 CATLPH family ?Choanal atresia and lymphedema, 613611 (3)
1.1411 3 9 00 1q32.1 RAB7L1 P RAB7-like 1 603949 A
1.1412 12 18 95 1q32.1 RBBP5, RBQ3 P Retinoblastoma-binding protein-5 600697 Psh, A
1.1413 11 3 09 1q32.1 REN, HNFJ2 C Renin 179820 REa, A, D, Fd, Ch ~24cM distal to AT3 [Hyperproreninemia] (3); Renal tubular dysgenesis, 267430 (3); Hyperuricemic nephropathy, familial juvenile 2, 613092 (3) 1(Ren1)
1.1414 2 14 13 1q32.1 SNRPE, HYPT11 C Small nuclear ribonucleoprotein polypeptide E 128260 REa, A, F Hypotrichosis 11, 615059 (3)
1.1415 5 4 00 1q32.1 SOX13, ICA12 P SRY-box 13 604748 A
1.1416 7 6 00 1q32.1 TIMM17A, TIM17A P Translocase of inner mitochondrial membrane 17, yeast, homolog of, A 605057 A
1.1417 7 26 10 1q32.1 TNNT2, CMH2, CMD1D, RCM3, LVNC6 C Troponin-T2, cardiac 191045 REa, Fd, A Cardiomyopathy, hypertrophic, 2, 115195 (3); Cardiomyopathy, dilated, 1D, 601494 (3); Cardiomyopathy, familial restrictive, 3, 612422 (3); Left ventricular noncompaction 6, 601494 (3)
1.1418 2 18 98 1q32.3 TRAF5 P TNF receptor-associated factor 5 602356 A 1(Traf5)
1.1419 12 21 06 1q31.2 UCHL5, UCH37 P Ubiquitin carboxyl-terminal hydrolase L5 610667 REc
1.1420 1 9 13 1q32.2 CAMK1G, CLICK3 P Calcium/calmodulin-dependent protein kinase IG 614994 REc
1.1421 3 15 16 1q41 CENPF, CILD31, STROMS P Centromere autoantigen F, 400kD 600236 A Stromme syndrome, 243605 (3) 1(Cenpf)
1.1422 1 30 12 1q32.2 G0S2 P G0/G1 switch gene 2 614447 REc
1.1423 5 29 12 1q32.2 HSD11B1, HSD11, HSD11L, CORTRD2 C Hydroxysteroid, 11-beta, dehydrogenase 1 600713 REa, REc digenic triallelic mutations with H6PD Cortisone reductase deficiency 2, 614662 (3)
1.1424 12 21 12 1q32.2 IRF6, VWS, LPS, PIT, PPS1, OFC6 C Interferon regulatory factor 6 607199 REc, Fd OFC6 in enhancer 5' of IRF6 van der Woude syndrome, 119300 (3); Popliteal pterygium syndrome 1, 119500 (3); {Orofacial cleft 6}, 608864 (3)
1.1425 7 9 15 1q32.2 KCNH1, EAG, TMBTS, ZLS1 P Potassium voltage-gated channel, subfamily H, member 1 (ether-a-go-go, drosophila, homolog of) 603305 Psh Temple-Baraitser syndrome, 611816 (3); Zimmermann-Laband syndrome 1, 135500 (3)
1.1426 1 20 99 1q32.1 RABIF, RASGFR3, MSS4 P Rab-interacting factor (Ras-specific guanine-releasing factor-3; mammalian suppressor of SEC4) 603417 A
1.1427 4 25 12 1q32.1 ADIPOR1, CGI45 C Adiponectin receptor 1 607945 REc 1(Adipor1)
1.1428 5 18 95 1q32.1 ADORA1, RDC7 P Adenosine A1 receptor 102775 A
1.1429 10 23 15 1q32.1 ARL8A, GIE2 P ADP-ribosylation factor-like 8A 616597 REc
1.1430 11 1 13 1q32.1 BLACAT1, LINC00912 P Bladder cancer-associated transcript 1, noncoding 615480 REc
1.1431 12 30 14 1q32.1 C1orf186, RHEX P Chromosome 1 open reading frame 186 616088 REc
1.1432 3 24 11 1q32.1 CAMSAP1L, CAMSAP2, KIAA1078 P Calmodulin-regulated spectrin-associated protein 1-like 1 613775 REc
1.1433 4 23 08 1q32.1 CHI3L1, GP39, YKL40, ASRT7 C Chitinase 3-like 1 (cartilage glycoprotein-39) 601525 REa, REc {Schizophrenia, susceptibility to}, 181500 (3); {Asthma-related traits, susceptibility to, 7}, 611960 (3)
1.1434 9 9 13 1q32.1 CNTN2, TAX, TAX1, FAME5 C Contactin 2 (transiently-expressed axonal glycoprotein) 190197 A 1 family identified with mutation ?Epilepsy, myoclonic, familial adult, 5, 615400 (3)
1.1435 11 11 13 1q32.1 DDX59, OFD5 P DEAD box polypeptide 59 615464 REc Orofaciodigital syndrome V, 174300 (3)
1.1436 1 27 18 1q32.1 DSTYK, KIAA0472, RIP5, DUSTYPK, CAKUT1, SPG23 P Dual serine/threonine and tyrosine protein kinase 612666 R, REc, Fd Congenital anomalies of kidney and urinary tract 1, 610805 (3); Spastic paraplegia 23, 270750 (3)
1.1437 1 24 10 1q32.1 EIF2D, HCA56 P Eukaryotic translation initiation factor 2D 613709 REc, H 1(Eif2d)
1.1438 3 20 06 1q32.1 ETNK2, EKI2 P Ethanolamine kinase 2 609859 REc 1(Etnk2)
1.1439 1 1 95 1q32.1 FMOD P Fibromodulin 600245 Psh, A
1.1440 12 29 00 1q32.1 GAC1 P Glioma amplification on chromosome 1 605492 A
1.1441 2 20 98 1q32.1 GPR25 P G protein-coupled receptor-25 602174 A
1.1442 8 15 17 1q32.1 GPR37L1, ETBRLP2 P G protein-coupled receptor 37-like 1 617630 REc
1.1443 2 12 09 1q32.1 IBD23 C Inflammatory bowel disease 23 612381 Fd associated with rs3024505 {Inflammatory bowel disease 23} (2)
1.1444 1 26 17 1q32.1 IGFN1, EEF1A2BP1 P Immunoglobulin-like and fibronectin type III domains-containing protein 1 617309 REc
1.1445 7 17 09 1q32.1 IKBKE P I-kappa-B kinase-epsilon 605048 R, REc
1.1446 3 29 12 1q32.1 KLHDC8A P Kelch domain-containing protein 8A 614503 REc
1.1447 3 30 12 1q32.1 KLHL12, DKIR P Kelch-like 12 614522 REc
1.1448 2 25 15 1q32.1 LEMD1 P LEM domain-containing protein 1 610480 R, REc
1.1449 12 10 13 1q32.1 MAPKAPK2, MK2 P Mitogen-activated protein kinase-activated protein kinase 2 602006 REc
1.1450 7 22 16 1q32.1 MIR1231 P Micro RNA 1231 617040 REc
1.1451 11 4 93 1q32.1 MYBPH C Myosin-binding protein H 160795 A
1.1452 4 10 14 1q32.1 NFASC, KIAA0756 P Neurofascin 609145 REc, R
1.1453 1 28 00 1q32.1 NR5A2, FTF, HB1F P Nuclear receptor subfamily 5, group A, member 2 (fetoprotein transcription factor) 604453 A
1.1454 3 20 08 1q32.1 NUCKS1, NUCKS P Nuclear casein kinase and cyclin-dependent kinase substrate 1 611912 REc, H 1(Nucks1)
1.1455 7 27 09 1q32.1 PEPP3, KIAA0969 P Phosphatidylinositol 3-phosphate-binding PH domain protein 3 607771 R, REc
1.1456 9 22 16 1q32.1 PM20D1 P Peptidase M20 domain-containing protein 1 617124 REc
1.1457 8 20 01 1q32.1 PPP1R12B, MYPT2 P Protein phosphatase 1, regulatory subunit 12B (myosin phosphatase target subunit 2) 603768 A
1.1458 2 16 16 1q32.1 PPP1R15B, CREP, MSSGM2 P Protein phosphatase 1, regulatory subunit 15B 613257 REc Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3)
1.1459 8 16 12 1q32.1 PPFIA4 P Protein-tyrosine phosphatase, receptor-type, F polypeptide-interacting protein alpha 4 603145 REc
1.1460 11 27 94 1q32.1 PTPN7 P Protein tyrosine phosphatase, nonreceptor-type, 7 176889 A, Ch
1.1461 1 17 06 1q32.1 SLC45A3, PRST, PCANAP6, IPCA6 P Solute carrier family 45, member 3 (prostein) 605097 R
1.1462 4 30 15 1q32.1 SYT2, CMS7, MYSPC P Synaptotagmin-2 600104 H, REc Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3) 1(Syt2)
1.1463 4 2 03 1q32.1 RASSF5, NORE1 P Ras association (RalGDS/AF-6) domain family 5 (Nore1, mouse, homolog of) 607020 REc 1(Nore1)
1.1464 2 2 17 1q32.1 SHISA4, C1orf40, TMEM58 P Shisa family, member 4 617326 REc
1.1465 8 8 13 1q32.1 SLC26A9 P Solute carrier family 26 (sulfate transporter), member 9 608481 REc
1.1466 3 14 07 1q32.1 SRGAP2, KIAA0456 P Slit-robo GTPase-activating protein, rho, 2 606524 R, REc
1.1467 6 5 08 1q32.1 YOD1, OTUD2, DUBA8 P YOD1 OTU deubiquitinating enzyme 1, S. cerevisiae, homolog of 612023 REc
1.1468 12 15 10 1q32.1 ZBED6 P Zinc finger BED domain-containing protein 6 613512 REc in intron 1 of ZC3H11A
1.1469 12 15 10 1q32.1 ZC3H11A, KIAA0663 P Zinc finger CCCH domain-containing protein 11A 613513 REc
1.1470 11 30 06 1q32.3 DTL, RAMP, DCAF2, CDT2 P Denticleless, Drosophila, homolog of 610617 A
1.1471 6 10 98 1q32.1 RNPEP P Arginyl aminopeptidase (aminopeptidase B) 602675 A
1.1472 10 23 87 1q42.13 GUK1 C Guanylate kinase-1 139270 S, D
1.1473 10 23 87 1q32.1-q42 GUK2 C Guanylate kinase-2 139280 S, D genetic independence of GUK1 and GUK2 unproved
1.1474 2 3 05 1q32.1 DYRK3 C Dual-specificity tyrosine phosphorylation-regulated kinase 3 603497 TM, REc 1(Dyrk3)
1.1475 9 7 10 1q32.1 FAIM3, TOSO, FCMR C Fas apoptotic inhibitory molecule 3 606015 R, REn
1.1476 3 23 09 1q32.2 MIR29C, MIRN29C P Micro RNA 29C 610784 REc
1.1477 12 21 09 1q32.2 MIR205, MIRN205 P Micro RNA 205 613147 REc
1.1478 7 27 09 1q32.2 PLXNA2, OCT, PLXN2 P Plexin A2 (OCT transmembrane protein) 601054 REa, REc
1.1479 12 17 07 1q32.1 SARG, C1orf116 P Specifically androgen-regulated gene 611680 REc
1.1480 9 21 11 1q32.2 SYT14, SCAR11 P Synaptotagmin 14 610949 REc Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)
1.1481 12 20 96 1q32.3 PROX1 P Prospero-related homeo box 1 601546 REc (Prox1)
1.1482 12 27 13 1q32.3 NEK2, RP67 C Never in mitosis gene a-related kinase 2 604043 A, REc pseudogenes on chr. 2, 14, and 22; mutation identified in 1 family ?Retinitis pigmentosa 67, 615565 (3)
1.1483 5 25 10 1q32.3 ATF3 P Activating transcription factor 3 603148 REc
1.1484 1 30 01 1q32.1 FCAMR P Fc fragment of IgA and IgM, receptor for 605484 A 1(Fcamr)
1.1485 3 24 14 1q32.3 INTS7, INT7 P Integrator complex subunit 7 611350 R, REc
1.1486 3 4 08 1q32.3 NENF, CIR2 C Neuron-derived neurotrophic factor 611874 REc
1.1487 4 3 09 1q32.3 RD3, LCA12, C1orf36 P Retinal degeneration 3, mouse, homolog of 180040 REc, H Leber congenital amaurosis 12, 610612 (3) 1(rd3)
1.1488 6 12 17 1q32.3 RPS6KC1, RPK118 P Ribosomal protein S6 kinase C1 617517 REc
1.1489 2 25 08 1q32.3 SLC30A1, ZNT1 P Solute carrier family 30 (zinc transporter), member 1 609521 REc
1.1490 2 25 15 1q32.3 VASH2 P Vasohibin 2 610471 REc
1.1491 7 22 11 1q32.2 TRAF3IP3, T3JAM P TRAF3-interacting protein 3 608255 REc 1(T3jam)
1.1492 10 30 08 1q41 AIDA P Axin interactor, dorsalization-associated 612375 REc
1.1493 7 18 14 1q41 BPNT1 P 3'(2'),5'-bisphosphate nucleotidase 1 604053 REc
1.1494 9 16 12 1q41 DUSP10, MKP5 P Dual-specificity phosphatase 10 608867 REc
1.1495 8 24 98 1q41 ESRRG P Estrogen-related receptor, gamma 602969 Psh
1.1496 3 26 16 1q41 GPATCH2, GPATC2 P G-patch domain-containing protein 2 616836 REc
1.1497 5 30 03 1q42.12 H3F3A, H3F3 P H3 histone, family 3A 601128 REc
1.1498 12 26 14 1q41 IARS2, CAGSSS P Isoleucyl-tRNA synthetase 2 612801 REc mutation identified in 1 CAGSSS family ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3)
1.1499 12 29 06 1q32.3 SMYD2 P SET and MYND domain-containing protein 2 610663 R, REc
1.1500 11 16 98 1q41 KCNK2, TREK P Potassium channel, subfamily K, member 2 603219 R
1.1501 3 4 10 1q41 KCTD3 P Potassium channel tetramerization domain-containing protein 3 613272 REc
1.1502 6 1 12 1q32.3 LINC00538, YIYA P Long intergenic noncoding RNA 538 614635 REc
1.1503 9 21 15 1q41 LYPLAL1 P Lysophospholipase-like 1 616548 REc
1.1504 7 17 09 1q41 MARK1, KIAA1477 P MAP/microtubule affinity-regulating kinase 1 606511 R, REc
1.1505 3 23 09 1q41 MIR194-1, MIRN194-1 P Micro RNA 194-1 610940 REc
1.1506 3 23 09 1q41 MIR215, MIRN215 P Micro RNA 215 610943 REc
1.1507 7 27 11 1q41 MOSC1, MARC1 P Molybdenum cofactor sulfurase C-terminal domain-containing protein 1 614126 REc
1.1508 7 27 11 1q41 MOSC2, MARC2 P Molybdenum cofactor sulfurase C-terminal domain-containing protein 2 614127 REc
1.1509 2 2 16 1q32.3 NSL1, DC8, C1orf48 P NSL1, MIS12 kinetochore complex component 609174 REc
1.1510 6 4 97 1q32.3 PPP2R5A P Protein phosphatase-2, regulatory subunit B (B56), alpha isoform 601643 A
1.1511 9 17 11 1q41 RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2 P RAB3 GTPase-activating protein (noncatalytic) subunit 2 609275 R, REc, Fd Martsolf syndrome, 212720 (3); Warburg micro syndrome 2, 614225 (3)
1.1512 4 26 12 1q41 RMD1 C Rippling muscle disease 1 600332 Fd, REc Rippling muscle disease-1 (2)
1.1513 8 19 13 1q41 RRP15 P Ribosomal RNA-processing 15, S. cerevisiae, homolog of 611193 REc
1.1514 7 11 16 1q41 SLC30A10, ZNT10, HMNDYT1 P Solute carrier family 30 (zinc transporter), member 10 611146 REc Hypermanganesemia with dystonia 1, 613280 (3)
1.1515 5 23 07 1q41 SPATA17, MSRG11 P Spermatogenesis-associated protein 17 611032 REc, H 1(Spata17)
1.1516 7 18 14 1q41 SUSD4 P Sushi domain-containing protein 4 615827 REc
1.1517 9 14 12 1q41 TGFB2, LDS4 C Transforming growth factor, beta-2 190220 REa, A, Fd Loeys-Dietz syndrome 4, 614816 (3) 1(Tgfb2)
1.1518 12 5 13 1q41 TLR5, TIL3, SLEB1, MELIOS C Toll-like receptor-5 603031 A {Legionnaire disease, susceptibility to}, 608556 (3); {Systemic lupus erythematosus, resistance to}, 601744 (3); {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3); {Melioidosis, susceptibility to}, 615557 (3)
1.1519 3 25 16 1q32.1 TMEM9, TMEM9A, DERM4 P Transmembrane protein 9 616877 REc
1.1520 12 8 00 1q42.2 TSNAX, TRAX C Translin-associated factor X 602964 A, RE, H 8(Tsnax)
1.1521 1 27 04 1q41 USH2A, RP39 C Usherin 608400 Fd Usher syndrome, type 2A, 276901 (3); Retinitis pigmentosa 39, 613809 (3) 1(Ush2a)
1.1522 12 21 09 1q41-q42 AUTS11 P Autism, susceptibility to, 11 610836 Fd associated with rs12740310, rs3737296, and rs12310279 {Autism susceptibility 11} (2)
1.1523 9 22 08 1q41 CAPN2 P Calpain, large polypeptide L2 114230 REa, REb
1.1524 5 22 07 1q42.13 CDC42BPA, PK428, MRCKA P CDC42-binding protein kinase alpha 603412 A
1.1525 1 31 11 1q41-q42 DEL1q41q42, C1DELq41q42 P Chromosome 1q41-q42 deletion syndrome 612530 Ch contiguous gene deletion of 1.7Mb Chromosome 1q41-q42 deletion syndrome (4)
1.1526 8 9 99 1q41 EPRS, PARS C Glutamyl-prolyl-tRNA synthetase 138295 REa, A 1(Eprs)
1.1527 5 12 99 1q42.13 GALNT2 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 602274 A
1.1528 3 21 93 1q41 HLX1 C H.20-like homeobox 1 142995 A, Fd 1(Hlx1)
1.1529 4 16 98 1q42.11 NVL C Nuclear valosin-containing protein-like 602426 A, REa
1.1530 10 16 92 1q42.12 ITPKB P Inositol 1,4,5-trisphosphate 3-kinase B 147522 A
1.1531 7 30 15 1q43 CHRM3, PBS, EGBRS P Cholinergic receptor, muscarinic, 3 118494 A, REa mutation identified in 1 PBS family ?Prune belly syndrome, 100100 (3)
1.1532 1 7 14 1q41-q44 OTSC10 P Otosclerosis 10 615589 Fd Otosclerosis 10 (2)
1.1533 1 29 01 1q42.13 ABCB10, MTABC2 P ATP-binding cassette, subfamily B, member 10 605454 REc pseudogene on 15q13-q14
1.1534 9 12 96 1q42.13 ARF1 P ADP-ribosylation factor-1 103180 A
1.1535 10 6 09 1q42 BCC2 P Basal cell carcinoma, susceptibility to, 2 613058 Fd associated with rs801114 {Basal cell carcinoma, susceptibility to, 2} (2)
1.1536 7 17 09 1q42.2 CAPN9 P Calpain 9 606401 R, REc
1.1537 3 3 03 1q41 DISPA P Dispatched, Drosophila, homolog of, A 607502 R
1.1538 2 21 06 1q42.12 DNAH14, HL18 P Dynein, axonemal, heavy chain 14 603341 REc
1.1539 12 16 05 1q42 EA3 P Episodic ataxia, type 3 606554 Fd max lod at D1S235 Episodic ataxia, type 3 (2)
1.1540 1 11 16 1q42.2 GNPAT, DHAPAT, RCDP2 P Glyceronephosphate O-acyltransferase 602744 TM Rhizomelic chondrodysplasia punctata, type 2, 222765 (3)
1.1541 1 14 13 1q42.13 HIST3H2A P Histone gene cluster 3, H2A histone 615015 REc
1.1542 1 31 13 1q42.13 HIST3H2BB, H2Bb P Histone gene cluster 3, H2B histone family, member B 615046 REc
1.1543 3 11 03 1q42.13 HIST3H3, H3FT, H3T P Histone 3, H3 602820 REa, A
1.1544 8 8 91 1q42 HRES1 P HTLV-1 related endogenous sequence 143025 REa, A
1.1545 4 10 00 1q42 MDC1B P Muscular dystrophy, congenital, 1B 604801 Fd Muscular dystrophy, congenital, 1B (2)
1.1546 9 7 10 1q41 MIA3, TANGO1, TANGO, KIAA0268 C Melanoma inhibitory activity family, member 3 613455 REc, R
1.1547 9 2 12 1q42.2 MLK4, KIAA1804 C Mixed-lineage kinase 4 614793 REc
1.1548 11 19 13 1q42.12 PARP1, ADPRT, PPOL, PARP C Poly(ADP-ribose) polymerase 1 173870 REa, A ?processed pseudogenes on chr.13 and 14
1.1549 6 8 89 1q42 PEPC C Peptidase C 170000 S, R, Fd 1q25, 1q32 = conflicting localizations 1(Pep3)
1.1550 4 4 07 1q42.13 RHOU, WRCH1 P Ras homolog gene family, member U 606366 R
1.1551 7 20 01 1q42.13 RNF16 P RING finger protein-16 606123 REa, R 11(Rnf16)
1.1552 2 1 01 1q41 TAF1A, RAFI48, SL1 C TATA box-binding protein-associated factor 1A 604903 R, A
1.1553 5 26 13 1q42.2 TRIM67 P Tripartite motif-containing protein 67 610584 REc
1.1554 2 17 15 1q42.13 WNT3A P Wingless-type MMTV integration site family, member 3A 606359 A
1.1555 10 10 01 1q42.13 WNT14 C Wingless-type MMTV integration site family, member 14 602863 REc, A
1.1556 4 20 15 1q43 ACTN2, CMD1AA, CMH23 C Actinin, alpha-2 102573 REa, A, Fd Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3); Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3) 13(Actn2)
1.1557 10 4 05 1q42.2 AGT, SERPINA8 C Angiotensinogen 106150 A, REa {Hypertension, essential, susceptibility to}, 145500 (3); {Preeclampsia, susceptibility to} (3); Renal tubular dysgenesis, 267430 (3) 8(Agt)
1.1558 12 26 14 1q42.2 EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3, HALAH C Egl9, C. elegans, homolog of, 1 606425 R, REc, A Erythrocytosis, familial, 3, 609820 (3); [Hemoglobin, high altitude adaptation], 609070 (3)
1.1559 7 17 01 1q43 EXO1, HEX1 P Exonuclease 1, S. cerevisiae, homolog of 606063 A
1.1560 7 1 97 1q42.2 KCNK1, TWIK1 P Potassium channel, subfamily K, member 1 601745 A
1.1561 4 18 05 1q43 LGALS8, PCTA1 P Lectin, galactoside-binding, soluble, 8 606099 R
1.1562 10 12 90 1q42.13 RAB4A, RAB4 P Ras-associated protein RAB4A 179511 A 1(Rab4a)
1.1563 12 5 16 1q42.3 TBCE, KCS, KCS1, HRD, PEAMO C Tubulin-specific chaperone E 604934 Fd Kenny-Caffey syndrome, type 1, 244460 (3); Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3); Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3)
1.1564 5 4 00 1q42.3 TM7SF1 P Transmembrane 7 superfamily, member 1 604658 REa, A
1.1565 7 17 09 1q42.12 ACBD3, GOCAP1, GOLPH1, GCP60 P Acyl-Coenzyme A binding domain containing 3 606809 R, REc
1.1566 3 11 16 1q42.13 ACTA1, ASMA, NEM3, CFTD1, SHPM C Actin, alpha-1, skeletal muscle 102610 REa, H, A mutation identified in 1 SHPM family Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3); Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3); Myopathy, actin, congenital, with cores, 161800 (3); Myopathy, congenital, with fiber-type disproportion 1, 255310 (3); ?Myopathy, scapulohumeroperoneal, 616852 (3) 8(Actsk1)
1.1567 8 18 17 1q42.2 DISC1, SCZD9 C Disrupted in schizophrenia 1 605210 Ch, H, RE {Schizophrenia 9, susceptibility to}, 604906 (3) 8(Disc1)
1.1568 9 20 01 1q42.2 DISC2 P Disrupted in schizophrenia 2 606271 Ch noncoding antisense RAN Schizophrenia, 181500 (2)
1.1569 4 21 99 1q42.12 EBAF, TGFB4, LEFTY2, LEFTA, LEFTYA C Transforming growth factor, beta-4 (endometrial bleeding-associated factor) 601877 A Left-right axis malformations (3) 1(lefty2)
1.1570 9 20 17 1q42.12 EPHX1 C Epoxide hydroxylase 1, microsomal xenobiotic 132810 REa, A Hypercholanemia, familial, 607748 (3) 1(Eph1)
1.1571 8 16 11 1q43 FH, HLRCC, MCUL1, FMRD C Fumarate hydratase 136850 S, R, D, Psh Fumarase deficiency, 606812 (3); Leiomyomatosis and renal cell cancer, 150800 (3)
1.1572 2 25 14 1q42.12 LBR, PHA C Lamin B receptor 600024 A, Fd Pelger-Huet anomaly, 169400 (3); Greenberg skeletal dysplasia, 215140 (3); ?Reynolds syndrome, 613471 (3)
1.1573 4 21 99 1q42.12 LEFTB, LEFTY1 P Left-right determination, factor B 603037 REn 1(lefty1)
1.1574 3 20 06 1q42.12 MIXL1, MIXL, MIX C MIX1 homeobox-like protein 1 609852 R, A, H 1(Mixl1)
1.1575 6 4 98 1q41 TP53BP2, ASPP2 P Tumor protein p53-binding protein-2 602143 A
1.1576 12 28 08 1q42.3 ARID4B, SAP180, RBP1L1, RBBP1L1, BRCAA1 P AT-rich interactive domain-containing protein 4B 609696 REc, A
1.1577 7 20 06 1q43 RYR2, VTSIP, ARVD2, ARVC2 C Ryanodine receptor-2 (cardiac) 180902 REa, A, Fd Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3); Arrhythmogenic right ventricular dysplasia 2, 600996 (3) 13(Ryr2)
1.1578 5 16 17 1q42.11 CNIH4, CNIH2 P Cornichon family AMPA receptor auxiliary protein 4 617483 REc
1.1579 7 18 14 1q42.11 DEGS1, DES1, MLD P Delta(4)-desaturase, sphingolipid, 1 615843 REc
1.1580 10 15 91 1q42.11-q42.13 RN5S1@ C RNA, 5S cluster 1 180420 A 25-30% at 1q31 (RN5S3@)
1.1581 9 9 08 1q42.11 FBXO28, FBX28, KIAA0483 P F-box only protein 28 609100 REc 1(Fbxo28)
1.1582 12 6 16 1q42.12 LIN9 P Lin9, C. elegans, homolog of 609375 REc
1.1583 8 18 14 1q42.12 SRP9, ALURBP P Signal recognition particle, 9-kD 600707 REc
1.1584 1 20 16 1q42.13 CCSAP, CSAP, C1orf96 P Centriole-, cilia-, and spindle-associated protein 616762 REc
1.1585 6 13 12 1q42.12 ENAH, ENA, MENA, NDPP1 P Enabled, Drosophila, homolog of 609061 REc 1(Enah)
1.1586 3 7 14 1q42.13 GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C C Gap junction protein, gamma-2 (47kD) 608803 REc Leukodystrophy, hypomyelinating, 2, 608804 (3); Spastic paraplegia 44, autosomal recessive, 613206 (3); Lymphedema, hereditary, IC, 613480 (3)
1.1587 7 7 15 1q42.13 IBA57, C1orf69, MMDS3, SPG74 P IBA57, S. cerevisiae, homolog of 615316 REc mutation identified in 1 MMDS3 family and 1 SPG74 family ?Multiple mitochondrial dysfunctions syndrome 3, 615330 (3); ?Spastic paraplegia 74, autosomal recessive, 616451 (3)
1.1588 3 11 08 1q42.13 MRPL55 P Mitochondrial ribosomal protein L55 611859 REc
1.1589 7 17 09 1q42.13 NUP133 P Nucleoporin, 133kD 607613 R, REc
1.1590 2 4 16 1q42.13 PGBD5 P Piggybac transposable element-derived 5 616791 REc
1.1591 6 19 15 1q42.12 PYCR2, HLD10 P Pyrroline-5-carboxylate reductase 2 616406 REc Leukodystrophy, hypomyelinating, 10, 616420 (3)
1.1592 2 22 11 1q42.13 RNF186, RACO1 P Ring finger protein 187 613754 REc
1.1593 1 31 15 1q42.13 TRIM11 P Tripartite motif-containing protein 11 607868 R, REc
1.1594 8 15 17 1q42.11-q42.12 WDR26, SKDEAS P WD repeat-containing protein 26 617424 REc Skraban-Deardorff syndrome, 617616 (3)
1.1595 12 30 14 1q42.13 ADCK3, COQ8, CABC1, SCAR9, ARCA2, COQ10D4 C AARF domain-containing kinase 3 606980 R, REc, Fd Coenzyme Q10 deficiency, primary, 4, 612016 (3)
1.1596 7 15 16 1q42.2 ARV1, EIEE38 P ARV1, S. cerevisiae, homolog of 611647 R, REc Epileptic encephalopathy, early infantile, 38, 617020 (3)
1.1597 7 31 15 1q42.2 COA6, C1orf31, CEMCOX4 P Cytochrome c oxidase assembly factor 6 614772 REc Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3)
1.1598 3 27 17 1q42.2 COG2, LDLC, CDG2Q P Component of oligomeric golgi complex 2 606974 R, REc mutation identified in 1 CDG2Q patient ?Congenital disorder of glycosylation, type IIq, 617395 (3)
1.1599 7 1 13 1q42.2 EXOC8, EXO84, SEC84 P Exocyst complex component 8 615283 REc
1.1600 8 31 17 1q42.2 PCNX2, KIAA0435 C Pecanex, Drosophila, homolog of, 2 617656 R, REc 8(Pcnx2)
1.1601 2 19 08 1q42.2 SIPA1L2, KIAA1389 P SIPA1-like protein 2 611609 R, REc
1.1602 2 4 15 1q42.2 SPRTN, DVC1, C1orf124, RJALS P SprT-like N-terminal domain protein 616086 REc Ruijs-Aalfs syndrome, 616200 (3)
1.1603 10 10 14 1q42-q43 EDARADD, ED3, EDA3, ECTD11B, ECTD11A C EDAR-associated death domain 606603 REc Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3); Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3) 13(Edaradd)
1.1604 10 8 98 1q42.2-q43 PCAP P Predisposing for prostate cancer 602759 Fd {Prostate cancer, susceptibility to}, 176807 (2)
1.1605 1 5 07 1q42.2-q43 SHFL1, SHFLD P Split-hand/foot malformation with long bone deficiency 1 119100 Fd between rs1124110 and rs535043 Split-hand/foot malformation with long bone deficiency 1 (2)
1.1606 10 7 13 1q42.3 ERO1LB P Endoplasmic reticulum oxidoreduction 1-like beta 615437 REc 13(Ero1l)
1.1607 4 23 13 1q42.3 B3GALNT2, MGC39558, MDDGA11 P Beta-1,3-N-acetylgalactosaminyltransferase 2 610194 REc Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)
1.1608 5 25 13 1q42.3 GNG4 P Guanine nucleotide-binding protein, gamma 4 604388 REc
1.1609 11 13 17 1q42.3 IRF2BP2, CVID14 P Interferon regulatory factor 2-binding protein 2 615332 REc mutation identified in 1 CVID14 family ?Immunodeficiency, common variable, 14, 617765 (3)
1.1610 1 30 15 1q42.3 LYST, CHS1 C Lysosomal trafficking regulator 606897 Fd Chediak-Higashi syndrome, 214500 (3) 13(Lyst, bg)
1.1611 9 18 08 1q42.2 TARBP1, TRP185 P TAR RNA-binding protein 1 605052 R, REc
1.1612 9 27 17 1q42.3 TOMM20, MAS20, KIAA0016 P Translocase of outer mitochondrial membrane 20, S. cerevisiae, homolog of 601848 REc
1.1613 3 23 14 1q43 BECN2, BECN1L1 P Beclin 2 615687 REc, H 1(Becn2)
1.1614 2 21 02 1q43 CHML, REP2 C Choroideremia-like 118825 REa, REc
1.1615 2 4 15 1q43 FMN2, MRT47 P Formin 2 606373 H, REc Mental retardation, autosomal recessive 47, 616193 (3) 1(Fmn2)
1.1616 5 28 02 1q42.3 GGPS1, GGPPS1 P Geranylgeranyl diphosphate synthase 1 606982 A
1.1617 12 27 16 1q43 GREM2, PRDC, STHAG9 P Gremlin 2 homolog, cystine knot superfamily 608832 REc Tooth agenesis, selective, 9, 617275 (3)
1.1618 2 21 02 1q43 KMO P Kynurenine 3-monooxygenase 603538 REc
1.1619 7 12 13 1q43 MTR, HMAG C 5-methyltetrahydrofolate-homocysteine methyltransferase 1 156570 S, A Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3); {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) 13(Mtr)
1.1620 6 8 89 1q42.3 NID P Nidogen 131390 A
1.1621 2 18 02 1q43 OPN3, ECPN P Opsin 3 606695 Psh, A
1.1622 4 20 11 1q43 RGS7 C Regulator of G protein signaling 7 602517 REc 1(Rgs7)
1.1623 12 15 10 1q43 ZP4, ZPB P Zona pellucida glycoprotein 4 613514 REc
1.1624 12 4 08 1q43-q44 DFNB45 P Deafness, autosomal recessive 45 612433 Fd between D1S547 and D1S2836 Deafness, autosomal recessive 45 (2)
1.1625 10 16 14 1q43-q44 SDCCAG8, CCCAP, SLSN7, BBS16 P Serologically defined colon cancer antigen 8 613524 REc Senior-Loken syndrome 7, 613615 (3); Bardet-Biedl syndrome 16, 615993 (3)
1.1626 3 15 07 1q44 AHCTF1, ELYS P AT hook containing transcription factor 1 610853 REc
1.1627 8 22 14 1q43-q44 AKT3, PKBG, MPPH2 P v-Akt murine thymoma viral oncogene homolog 3 611223 A Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 (3) 1(Akt3)
1.1628 6 12 17 1q44 CATSPERE, C10orf101 P Cation channel, sprem-associated, auxiliary subunit epsilon 617510 REc
1.1629 9 21 09 1q43 CEP170, KIAA0470 P Centrosomal protein, 170kD 613023 R, REc
1.1630 9 7 10 1q44 CNST P Consortin 613439 REc
1.1631 2 21 14 1q44 COX20, FAM36A P Cytochrome c oxidase 20, S. cerevisiae, homolog of 614698 REc Mitochondrial complex IV deficiency, 220110 (3)
1.1632 7 20 12 1q44 DESI2, PPPDE1 P Desumoylating isopeptidase 2 614638 REc
1.1633 3 10 17 1q44 HNRNPU, HNRPU, SAFA, EIEE54 P Heterogeneous nuclear ribonucleoprotein U 602869 REc Epileptic encephalopathy, early infantile, 54, 617391 (3)
1.1634 9 8 11 1q44 KIF26B P Kinesin family member 26B 614026 REc
1.1635 8 10 16 1q44 LYPD8 P LY6/PLAUR domain-containing protein 8 617067 REc
1.1636 3 30 18 1q44 NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH C NLR family, pyrin domain containing 3 606416 REn, Fd Familial cold-induced inflammatory syndrome 1, 120100 (3); Muckle-Wells syndrome, 191900 (3); CINCA syndrome, 607115 (3); Deafness, autosomal dominant 34, with or without inflammation, 617772 (3); Keratoendothelitis fugax hereditaria, 148200 (3)
1.1637 1 5 16 1q44 OR2W3 P Olfactory receptor family 2 subfamily W member 3 616729 REc
1.1638 12 17 07 1q44 OR13G1 P Olfactory receptor, family 13, subfamily G, member 1 611677 REc
1.1639 6 27 14 1q44 SMYD3 P SET and MYND domain-containing protein 3 608783 REc
1.1640 11 11 14 1q44 TFB2M P Transcription factor B2, mitochondrial 607055 R, REc
1.1641 3 23 93 1q44 ZNF124 P Zinc finger protein-124 (HZF-16) 194631 A
1.1642 5 12 15 1q44 ZNF695, SBZF3 P Zinc finger protein 695 616348 REc
1.1643 4 20 17 1q44 ZBTB18, ZNF238, RP58, MRD22 C Zinc finger and BTB domain containing 18 608433 A, REc, Psh Mental retardation, autosomal dominant 22, 612337 (3)
1.1644 11 10 17 1q44 ZNF692, AREBP P Zinc finger protein 692 617758 REc
1.1645 4 19 11 1q44 ZNF496, NIZP1, ZFP496 P Zinc finger protein 496 613911 REc 11(Znf496)
1.1646 11 3 11 Chr.1 SPGF2, ASG P Spermatogenic failure 2 108420 Ch inversion of chromosome 1 Spermatogenic failure 2 (2)
2.1 7 22 13 2pter-p24 CTRCT29 P Cataract 29, coralliform 115800 Fd between D2S297 and D2S2269 Cataract 29, coralliform (2)
2.2 6 14 10 2p25.3 ADI1, SIPL P Acireductone dioxygenase 1 613400 REc
2.3 5 4 12 2p25.3 COLEC11, CLK1, 3MC2 P Collectin 11 612502 REc 3MC syndrome 2, 265050 (3)
2.4 4 2 16 2p25.3 FAM110C P Family with sequence similarity 110, member C 611395 REc
2.5 1 26 17 2p25.3 PXDN, D2S448E, KIAA0230, PRG2, PXN, COPOA, ASGD7 C Peroxidasin, Drosophila, homolog of 605158 REa, R, A Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
2.6 1 26 17 2p25.3 SH3YL1 P SH3 domain- and SYLF domain-containing protein 1 617314 REc
2.7 2 19 10 2p25.3 TMEM18 P Transmembrane protein 18 613220 REc
2.8 9 21 17 2p25.3 TRAPPC12, TTC15, PEBAS P Trafficking protein particle complex, subunit 12 614139 REc Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 (3)
2.9 2 12 08 2p25.2 CMPK2 P Cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial 611787 REc
2.10 7 11 17 2p25.3 EIPR1, TSSC1 C EARP complex and GARP complex interacting protein 1 608998 REc, H 12(Tssc1)
2.11 8 27 09 2p25.1 ITGB1BP1, ICAP1, ICAP1A, ICAP1B P Integrin cytoplasmic domain-associated protein 1 beta 607153 R, REc
2.12 12 28 08 2p25.2 RSAD2, VIPERIN P Radical S-adenosyl methionine domain containing 2 607810 R, REc
2.13 12 23 05 2p25.1 GRHL1, LBP32, MGR P Grainyhead-like 1 609786 R, REc
2.14 1 22 08 2p25.1 GREB1 P GREB1 protein 611736 R, REc
2.15 7 17 09 2p25.1 HPCAL1 P Hippocalcin-like 1 600207 REa, REc
2.16 1 11 17 2p25.1 KIDINS220, ARMS, SINO P Kinase D-interacting substrate, 220kD 615759 REc Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 (3)
2.17 10 13 09 2p25.1 MBOAT2, LPCAT4 P Membrane-bound O-acyltransferase domain-containing 2 611949 R, REc
2.18 2 4 15 2p25.1 NOL10, PQBP5 P Nucleolar protein 10 616197 REc
2.19 8 6 13 2p25.1 NTSR2 P Neurotensin receptor 2 605538 REc
2.20 6 12 12 2p25.1 TYHAQ P Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta isoform 609009 REa, REc pseudogene on chr.22
2.21 3 14 06 2p25.1-p24.3 DFNB47 P Deafness, neurosensory, autosomal recessive 47 609946 Fd max lod at D2S1400 and D2S262 Deafness, neurosensory, autosomal recessive 47 (2)
2.22 8 23 16 2p21 DYNC2LI1, D2LIC, LIC3, SRTD15 P Dynein, cytoplasmic 2, light intermediate chain 1 617083 REc Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3)
2.23 7 7 89 2p25.3 ACP1 C Acid phosphatase 1, soluble 171500 D, S, A 12(Acp1)
2.24 11 3 14 2p25.1 ADAM17, TACE, NISBD1 P A disintegrin and metalloproteinase domain 17 603639 R mutation identified in 1 NISBD1 family ?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3) 12(Tace)
2.25 12 18 08 2p25 ALLC P Allantoicase 612396 Psh, REc nonfunctional in humans
2.26 1 15 96 2p25.1 ID2 P Inhibitor of DNA binding 2, dominant negative 600386 REa, A
2.27 8 27 09 2p23.3 ITSN2, SH3D1B, SWAP, KIAA1256 P Intersectin 2 604464 REc
2.28 5 21 99 2p25.1 KCNF1, KH1 P Potassium voltage-gated channel, subfamily F, member 1 603787 A
2.29 2 13 14 2p25.1 KLF11, TIEG2, FKLF1, FKLF, MODY7 P Kruppel-like factor 11 603301 Psh Maturity-onset diabetes of the young, type VII, 610508 (3) 12(Klf11)
2.30 5 27 05 2p25.1 ODC1 C Ornithine decarboxylase-1 165640 REa, A pseudogene ODCP on 7q31-qter {Colonic adenoma recurrence, reduced risk of}, 114500 (3) 12(Odc)
2.31 10 11 05 2p25 PEE2 P Preeclampsia/eclampsia 2 609402 Fd Preeclampsia/eclampsia 2 (2)
2.32 7 29 15 2p25.3 RNASEH1, PEOB2 C Ribonuclease H1 604123 Psh pseudogenes on chr. 17 and chr.1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3) 12(Rnaseh1)
2.33 2 4 09 2p25.3 RPS7, DBA8 C Ribosomal protein S7 603658 A Diamond-Blackfan anemia 8, 612563 (3)
2.34 7 17 14 2p25.2 SOX11, MRD27 P SRY (sex-determining region Y)-box 11 600898 A Mental retardation, autosomal dominant 27, 615866 (3)
2.35 2 1 01 2p25.1 RAF1B, RAFI63, SL1 C TATA box-binding protein-associated factor 1B 604904 R, A
2.36 7 11 11 2p23.3 SAP14, SF3B14, P14 P Spliceosome-associated protein, 14kD 607835 REc
2.37 5 12 09 2p23.3 SUPT7L, SUPT7H, SPT7l, KIAA0764, STAF65G P Suppressor of TY 7-like 612762 R, REc
2.38 9 29 09 2p25.3 TPO, TPX, TDH2A C Thyroid peroxidase 606765 REa, A, Fd Thyroid dyshormonogenesis 2A, 274500 (3) 12(Tpo)
2.39 11 22 17 2p25-p22 ETM2, ETM P Tremor, hereditary essential, 2 602134 Fd max lod at D2S272 Essential tremor, hereditary, 2 (2)
2.40 6 10 03 2p25-p24 HYT3 P Hypertension, essential, susceptibility to, 3 607329 Fd {Hypertension, essential, susceptibility to, 3}, 145500 (2)
2.41 8 22 07 2p25.1 PDIA6, ERP5 P Protein disulfide isomerase, family A, member 6 611099 A
2.42 4 10 90 2p25.1 RRM2 P Ribonucleotide reductase, M2 polypeptide 180390 REa, A pseudogenes on 1p, 1q, Xp 12(Rrm2)
2.43 7 27 09 2p25-p12 PPKP3 L Keratoderma, palmoplantar, punctate type III 101850 Fd max lod at ACP1 and IGKC ?Keratoderma, palmoplantar, punctate type 3 (2)
2.44 4 6 15 2p24.3 FAM84A, NSE1 P Family with sequence similarity 84, member A 611234 R, REc
2.45 12 30 14 2p24.3 GACAT3, LINC01458 P Gastric cancer-associated transcript 3, noncoding 616132 REc
2.46 9 20 14 2p24.3 MYCNUT P MYCN upstream transcript, noncoding 615968 REc
2.47 12 24 08 2p24.2 GEN1 P GEN1, Drosophila, homolog of 612449 REc
2.48 8 29 08 2p24.2 MSGN1 P Mesogenin 1 612209 REc
2.49 5 24 13 2p24.2 NT5C1B, CN1B, AIRP P 5'-nucleotidase, cytosolic, Ib 610526 REc, R
2.50 2 9 16 2p24.2 RDH14, SDR7C4, PAN2 P Retinol dehydrogenase 14 616796 REc
2.51 10 4 05 2p24.2 SMC6L1, SMC6 P Structural maintenance of chromosomes 6-like 1 609387 R, REc
2.52 5 19 06 2p24.1 HS1BP3, FLJ14249, ETM2 C HS1-binding protein 3 609359 REc
2.53 1 17 18 2p24.1 LDAH, C2orf43 P Lipid droplet associated hydrolase 613570 REc
2.54 7 21 11 2p24.3 MYCN, NMYC, ODED, MODED C Oncogene NMYC 164840 REa, A, Fd proximal to APOB Feingold syndrome 1, 164280 (3) 12(Nmyc1)
2.55 8 27 09 2p24.3 MYCNOS, NCYM P Oncogene NCYM, opposite strand 605374 R, REc
2.56 8 3 12 2p24.1 RHOB, ARHB, ARH6, RHOH6 P RAS homolog gene family, member B (oncogene RHO H6) 165370 REa, A
2.57 6 29 94 2p24.1 SDC1 C Syndecan 1 186355 REa, H close to NMYC in mouse 12(Synd1)
2.58 2 11 14 2p24.1 WDR35, NAOFEN, KIAA1336, CED2, SRTD7 P WD repeat-containing protein 35 613602 REc Cranioectodermal dysplasia 2, 613610 (3); Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)
2.59 10 12 16 2p23.3 ZNF513, RP58 P Zinc finger protein 513 613598 REc mutation identified in 1 RP58 family ?Retinitis pigmentosa 58, 613617 (3)
2.60 8 2 13 2p24.1-p23.3 ATAD2B, KIAA1240 P ATPase family, AAA domain-containing, member 2B 615347 R, REc
2.61 7 8 10 2p23.2 C2orf71 P Chromosome 2 open reading frame 71 613425 REc Retinitis pigmentosa 54, 613428 (3)
2.62 12 9 13 2p24.1 APOB, FLDB, LDLCQ4 C Apolipoprotein B (including Ag(x) antigen) 107730 REa, A 1 gene for liver apo-B100 and gut apo-B48; Ag linked Hypobetalipoproteinemia, 615558 (3); Hypercholesterolemia, due to ligand-defective apo B, 144010 (3) 12(Apob)
2.63 3 8 07 2p24-p22 CLQTL2 P Cholesterol level quantitative trait locus 2 610760 Fd max lod at D2S1360 [Cholesterol level QTL 2] (2)
2.64 5 24 01 2p25.1 DDEF2, PAP C Development- and differentiation-enhancing factor 2 603817 R
2.65 5 13 96 2p24.3 DDX1 P DEAD/H box-1 601257
2.66 1 3 06 2p24 GEFSP4 P Generalized epilepsy with febrile seizures plus, type 4 609800 Fd max lod at D2S305 Epilepsy, generalized, with febrile seizures plus, type 4 (2)
2.67 6 15 99 2p24.2 KCNS3, KV9.3 P Potassium voltate-gated channel, delayed-rectifier, subfamily S, member 3 603888 REc
2.68 2 23 05 2p24 KTCN4 P Keratoconus 4 609271 Fd between D2S305 and D2S2373 Keratoconus 4 (2)
2.69 9 1 15 2p25.3 MYT1L, KIAA1106, MRD39 P Myelin transcription factor 1-like 613084 Psh, H Mental retardation, autosomal dominant 39, 616521 (3) 12(Myt1l)
2.70 9 7 04 2p24.1 ODD, OSR1 P ODD-skipped, Drosophila, homolog of 608891 REc
2.71 3 9 00 2p25.1 ROCK2 P RHO-associated coiled-coil-containing protein kinase 2 604002 R, A
2.72 6 9 06 2p11.2 VPS24, CHMP3, NEDF P Vacuolar protein sorting 24, yeast, homolog of 610052 R, REc
2.73 7 17 01 2p24.1 GDF7 P Growth/differentiation factor 7 604651 A
2.74 1 10 18 2p24.1 MATN3, EDM5, HOA, OS2 C Matrilin 3 602109 A, Fd mutation identified in 1 SEMDM family Epiphyseal dysplasia, multiple, 5, 607078 (3); {Osteoarthritis susceptibility 2}, 140600 (3); ?Spondyloepimetaphyseal dysplasia, 608728 (3) 12(Matn3)
2.75 7 29 15 2p24.3 NBAS, NAG, SOPH, ILFS2 P Neuroblastoma-amplified sequence 608025 A Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3); Infantile liver failure syndrome 2, 616483 (3)
2.76 10 13 05 2p23.3 TCF23 P Transcription factor 23 609635 REc 5(Tcf23)
2.77 2 27 18 2p23.3 ADCY3, BMIQ19 C Adenylate cyclase-3 600291 REa, A {Obesity, susceptibility to, BMIQ19}, 617885 (3)
2.78 6 3 98 2p23.3 CENPA C Centromere protein A, 17kD 117139 R, Psh 5(Cenpa)
2.79 8 29 08 2p23.3 ABHD1, LABH1 P Abhydrolase domain-containing 1 612195 REc 5(Abhd1)
2.80 7 11 16 2p23.3 AGBL5, CCP5, RP75 P AATP/GTP-binding protein-like 5 615900 REc Retinitis pigmentosa 75, 617023 (3)
2.81 11 22 16 2p23.3 ASXL2, KIAA1685, SHAPNS P Additional sex combs-like 2 612991 REc Shashi-Pena syndrome, 617190 (3)
2.82 2 25 15 2p23.3 C2orf44, WDCP P WD repeat- and coiled-coil-containing protein 616234 REc
2.83 10 08 07 2p23.3 CENPO P Centromeric protein O 611504 R, REc
2.84 7 14 14 2p23.3 CGREF1, CGR11 P Cell growth regulator with EF-hand domain 1 606137 REc
2.85 5 23 11 2p23.3 DNAJC5G P DNAJ/HSP40 homolog, subfamily C, member 5, gamma 613946 REc
2.86 8 17 10 2p23.3 DNAJC27, RBJ P DNAJ/HSP40 homolog, subfamily, C, member 27 613527 REc
2.87 1 27 04 2p23.3 DPYSL5, CRMP5, CRAM P Dihydropyrimidinase-like 5 608383 R, REc 5(Dpysl5)
2.88 7 12 13 2p23.3 DRC1, CCDC164, C2orf39, CILD21 P Dynein regulatory complex, subunit 1, Chlamydomonas, homolog of 615288 REc Ciliary dyskinesia, primary, 21, 615294 (3)
2.89 2 9 16 2p23.3 EFR3B, KIAA0953 P Efr3, S. cerevisiae, homolog of, B 616797 R, REc
2.90 10 29 03 2p23.3 EIF2B4 P Eukaryotic translation initiation factor 2B, subunit 4 606687 R Leukoencephalopathy with vanishing white matter, 603896 (3); Ovarioleukodystrophy, 603896 (3)
2.91 8 27 09 2p23.3 FKBP1B, PKBP1L P FK506-binding protein 1B 600620 R, REc
2.92 3 20 08 2p23.3 FNDC4, FRCP1 P Fibronectin type III domain-containing protein 4 611905 R, REc, H 5(Fndc4)
2.93 5 29 15 2p23.3 IFT172, SLB, KIAA1179, SRTD10, RP71 P Intraflagellar transport 172, Chlamydomonas, homolog of 607386 R, REc Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3); Retinitis pigmentosa 71, 616394 (3)
2.94 1 7 09 2p23.3 POMC, OBAIRH C Proopiomelanocortin (adrenocorticotropin/beta-lipotropin) 176830 REa, A Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3); {Obesity, early-onset, susceptibility to}, 601665 (3) 12(Pomc1)
2.95 10 12 14 2p23.3 PPM1G, PP2CG P Protein phosphatase, magnesium/manganese-dependent, 1G 605119 REc
2.96 2 9 17 2p23.3 PRTHD1, C2orf79 P Peptidyl-tRNA hydrolase domain-containing 1 617342 REc
2.97 3 31 09 2p23.3 RAB10 P Ras-associated protein 612672 REc
2.98 11 18 16 2p23.3 SELENOI, SELI P Selenoprotein I 607915 REc
2.99 7 18 14 2p23.3 SLC5A6, SMVT P Solute carrier family 5 (sodium dependent vitamin transporter), member 6 604024 REc
2.100 2 25 08 2p23.3 SLC30A3, ZNT3 P Solute carrier family 30 (zinc transporter), member 3 602878 REc 5(Slc30a3)
2.101 4 6 15 2p23.3 TMEM214 P Transmembrane protein 214 615301 REc
2.102 8 3 12 2p23.3 TP53I3, PIG3 P Tumor protein p53-inducible protein 3 605171 REc
2.103 8 13 15 2p23.3 TRIM54, RNF30, MURF3 P Tripartite motif containing 54 606474 R, REc
2.104 10 13 09 2p23.3 XAB1, MBDIN P XPA-binding protein 611479 REc
2.105 8 27 09 2p23.3 EMILIN1, EMILIN P Elastin microfibril interfacer 1 130660 REc
2.106 11 1 10 2p23.3 GCKR, GKRP, FGQTL5 C Glucokinase (hexokinase 4) regulatory protein 600842 A, Fd, REc [Fasting plasma glucose level QTL 5], 613463 (3)
2.107 6 23 11 2p23.3 KHK P Ketohexokinase (fructokinase) 614058 A, Fd, REc, Psh [Fructosuria], 229800 (3)
2.108 8 27 09 2p23.3 SLC4A1AP P Solute carrier family 4 (anion exchanger), member 1, adaptor protein 602655 REc
2.109 8 27 01 2p23.3 MAPRE3, EB3, RP3, EBF3 C Microtubule-associated protein, RP/EB family, member 3 605788 A, R
2.110 3 14 06 2p23.3-p22.3 GINGF3, HGF3, GGF3 P Fibromatosis, gingival, 3 609955 Fd between D2S2221 and D2S1788 Fibromatosis, gingival, 3 (2)
2.111 10 13 13 2p23.2 BRE, BRCC4, BRCC45 P Brain and reproductive organ-expressed protein 610497 REc, R
2.112 8 31 11 2p23.2 FOSL2 P FOS-like antigen-2 601575 A
2.113 1 27 04 2p23.1 GALNT14 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 608225 REc
2.114 6 16 06 2p23.2 PLB1, PLB, FLJ30866 P Phospholipase B1 610179 R, REc
2.115 9 10 07 2p23.2 RBKS P Ribokinase 611132 REc
2.116 9 8 11 2p23.2 SPDYA, SPY1, RINGOA P Speedy, xenopus, homolog of, A 614029 REc
2.117 2 4 15 2p23.2 WDR43, UTP5, KIAA0007 P WD repeat-containing protein 43 616195 REc, Psh
2.118 1 31 08 2p23.1 LBH P Limb bud and heart development, mouse, homolog of 611763 R, REc
2.119 9 28 11 2p23.1 LCLAT1, ALCAT1, AGPAT8 P Lysocardiolipin acyltransferase 1 614241 REc 17(Lclat1)
2.120 12 28 08 2p23.1 YPEL5 P Yippee-like 5 609726 REc 17(Ypel5)
2.121 9 24 08 2q32.1 DNAJC10, ERDJ5, JPDI P DNAJ/HSP40 homolog, subfamily C, member 10 607987 REc
2.122 9 22 09 2p23.2-p23.1 ALK, NBLST3 C Anaplastic lymphoma kinase (Ki-1) 105590 Ch, H {Neuroblastoma, susceptibility to, 3}, 613014 (3) 17(Alk)
2.123 3 22 18 2p23.3 DNMT3A, TBRS P DNA methyltransferase 3A 602769 A Tatton-Brown-Rahman syndrome, 615879 (3); Acute myeloid leukemia, somatic, 601626 (3)
2.124 3 19 08 2p23.3 HADHA, MTPA C Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/ enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit 600890 A LCHAD deficiency, 609016 (3); Trifunctional protein deficiency, 609015 (3); HELLP syndrome, maternal, of pregnancy, 609016 (3); Fatty liver, acute, of pregnancy, 609016 (3)
2.125 3 19 08 2p23.3 HADHB C Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase /enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit 143450 A Trifunctional protein deficiency, 609015 (3)
2.126 8 2 13 2p23.3 KCNK3, TASK, PPH4 P Potassium channel, subfamily K, member 3 603220 R Pulmonary hypertension, primary, 4, 615344 (3) 5(Kcnk3)
2.127 11 20 98 2p23.3 KIF3C P Kinesin family member 3C 602845 A 12(Kif3c)
2.128 1 30 18 2p23.3 MFSD2B P Major facilitator superfamily domain-containing protein 2B 617845 REc
2.129 12 29 99 2p23.3 NCOA1, SRC1 P Nuclear receptor coactivator 1 602691 A
2.130 6 18 01 2p23.3 NRBP P Nuclear receptor-binding protein 606010 A
2.131 5 31 17 2p23.2 PPP1CB, NSLH2 P Protein phosphatase-1, catalytic subunit, beta isoform 600590 REa, A Noonan syndrome-like disorder with loose anagen hair 2, 617506 (3) 12(Ppp1cb)
2.132 11 28 01 2p23.3 PREB P Prolactin regulatory element-binding protein 606395 A 5(Preb)
2.133 10 21 02 2p23.1 SRD5A2 C Steroid-5-alpha-reductase, alpha polypeptide-2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha-2) 607306 REa, A Pseudovaginal perineoscrotal hypospadias, 264600 (3)
2.134 8 17 99 2p23.3 DTNB P Dystrobrevin, beta 602415 A 12(Dtnb)
2.135 8 4 09 2p23.3 OTOF, DFNB9, NSRD9, AUNB1 C Otoferlin 603681 Fd, REc symbolized DFNB6 by authors Deafness, autosomal recessive 9, 601071 (3); Auditory neuropathy, autosomal recessive, 1, 601071 (3)
2.136 8 17 98 2p22.1 SLC8A1, NCX1 C Solute carrier family 8, member 1 (sodium-calcium exchanger-1) 182305 REa, A
2.137 4 18 05 2p23.3 SNX17 P Sorting nexin 17 605963 R, REc
2.138 7 27 16 2p23.1 XDH, XAN1 C Xanthine dehydrogenase (xanthine oxidase) 607633 REb, A Xanthinuria, type I, 278300 (3) 17(Xd)
2.139 12 27 10 2p23.3 MPV17, MTDPS6 P Mpv17 transgene, mouse, glomerulosclerosis, homolog of 137960 REa, A Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) 5(Mpv17)
2.140 3 18 08 2p23.3 UCN, UROC P Urocortin 600945 REa, REc
2.141 5 16 05 2p22.2-p22.1 ARL3IP2, ATL2 P ADP-ribosylation-like factor 6-interacting protein 2 (atlastin 2) 609368 REc
2.142 6 9 08 2p22.3 DPY30 P DPY30, C. elegans, homolog of 612032 REc
2.143 7 23 15 2p22.3 MIR558 P Micro RNA 558 616473 REc BIRC6 is host gene
2.144 12 4 14 2p22.3 NLRC4, CARD12, CLAN, IPAF, AIFEC, FCAS4 P NLR family, caspase recruitment domain-containing 4 606831 REc mutation identified in 1 FCAS4 family Autoinflammation with infantile enterocolitis, 616050 (3); ?Familial cold autoinflammatory syndrome 4, 616115 (3)
2.145 10 11 16 2p22.2 SULT6B1 P Sulfotransferase family 6B, member 1 617152 REc
2.146 6 17 17 2p22.3 YIPF4 P Yip1 domain family, member 4 617534 REc
2.147 4 26 10 2p22.3-p21 CANDF1, CMCT P Candidiasis, familial, 1 114580 Fd between D2S367 and D2S2240 Candidiasis, familial, 1, autosomal dominant (2)
2.148 7 16 09 2p22.2 CEBPZ, CBF, NOC1 P CCAAT/enhancer-binding protein, zeta 612828 REc
2.149 9 23 08 2p22.2 FAM82A1, FAM82A, RMD2 P Family with sequence similarity 82, member A1 611872 REc
2.150 7 18 14 2p22.2 FEZ2 P Fasciculation and elongation protein zeta 2 604826 REc
2.151 1 30 18 2p22.2 MACOM C Macrophthalmia, colobomatous, with microcornea 602499 Ch Macrophthalmia, colobomatous, with microcornea (4)
2.152 8 1 14 2p22.2 NDUFAF7, MIDA P NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 615898 REc
2.153 8 27 09 2p22.2 QPCT, QC P Glutaminyl-peptide cyclotransferase 607065 R, REc
2.154 9 18 17 2p22.2 VIT, VIT1 P Vitrin 617693 REc
2.155 9 20 14 2p22.1 GEMIN6 P GEM-associated protein 6 607006 REc
2.156 3 31 15 2p22.1 MAP4K3, GLK P Mitogen-activated protein kinase kinase kinase kinase 3 604921 REc
2.157 9 17 11 2p22.1-p21 HNFJ3 P Hyperuricemic nephropathy, familial juvenile, 3 614227 Fd between rs372139 and rs896986 Hyperuricemic nephropathy, familial juvenile, 3 (2)
2.158 5 26 13 2p22.1 HNRNPLL, HNRPLL, SRRF P Heterogeneous nuclear ribonucleoprotein L-like 611208 REc
2.159 3 24 14 2p23.2 MRPL33 P Mitochondrial ribosomal protein L33 610059 R
2.160 8 21 12 2p22.2 STRN P Striatin, calmodulin-binding protein 614765 REc, A
2.161 1 7 09 2p22.3 BIRC6, KIAA1289 P Baculoviral IAP repeat-containing protein-6 605638 R, REc
2.162 8 28 01 2p22.2 CRIM1 P Cysteine-rich motor neuron protein 1 606189 R, A
2.163 1 26 17 2p22.2 CYP1B1, GLC3A, ASGD6 C Cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1 601771 REa, REn, A, Fd Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3); Anterior segment dysgenesis 6, multiple subtypes, 617315 (3)
2.164 1 2 03 2p21 EML4, ROPP120 P Echinoderm microtubule associated protein like-4 607442 R, A
2.165 2 12 08 2p22.3 MEMO1, MEMO, C2orf4 P Mediator of cell motility 1 611786 REc
2.166 1 16 08 2p21-p16 MSH2, COCA1, FCC1, HNPCC1 C mutS, E. coli, homolog of, 2 609309 Fd, REa, Ch Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3); Muir-Torre syndrome, 158320 (3); Mismatch repair cancer syndrome, 276300 (3)
2.167 8 27 09 2p24.1 PUM2, KIAA0235 P Pumilio, Drosophila, homolog of, 2 607205 REa, REc
2.168 12 19 11 2p22.1 SRSF7, SFRS7 P Splicing factor, arginine/serine-rich 7, 35kD 600572 A
2.169 2 25 08 2p22.3 SLC30A6, ZNT6 P Solute carrier family 30 (zinc transporter), member 6 611148 REc, H 17(Slc30a6)
2.170 9 28 15 2p22.1 SOS1, GINGF, GF1, HGF, NS4 C Son of sevenless, Drosophila, homolog of, 1 182530 A, Fd, REc mutation identified in 1 GINGF1 family ?Fibromatosis, gingival, 1, 135300 (3); Noonan syndrome 4, 610733 (3) 17(Sos1)
2.171 4 27 12 2p22.3 SPAST, SPG4 C Spastin 604277 Fd Spastic paraplegia 4, autosomal dominant, 182601 (3)
2.172 1 28 08 2p22.1 THUMPD2, C2orf8 P THUMP domain-containing 2 611751 A
2.173 7 12 92 2p16.3 HTLF P Human T-cell leukemia virus enhancer factor 143089 REa, A
2.174 10 24 14 2p22.1 GALM, GLAT P Galactose mutarotase 137030 S
2.175 12 8 00 2p21 ABCG5 P ATP-binding cassette, subfamily G, member 5 605459 REc Sitosterolemia, 210250 (3)
2.176 6 21 16 2p21 ABCG8, GBD4 P ATP-binding cassette, subfamily G, member 8 605460 REc Sitosterolemia, 210250 (3); {Gallbladder disease 4}, 611465 (3)
2.177 3 2 17 2p21 ATP6V1E2, ATP6E1 P ATPase, H+ transporting, lysosomal, 31kD, V1 subunit E, isoform 1 617385 REc
2.178 1 13 17 2p23.3 CAD, CDG1Z, EIEE50 P CAD trifunctional protein of pyrimidine biosynthesis 114010 REa, A, S, D Epileptic encephalopathy, early infantile, 50, 616457 (3)
2.179 3 13 15 2p21 CALM2, LQT15 P Calmodulin-2 114182 Psh, A Long QT syndrome 15, 616249 (3)
2.180 6 4 13 2p21 CAMKMT, C2orf34 P Calmodulin lysine N-methyltransferase 609559 REc
2.181 8 27 09 2p22.2 CDC42EP3, CEP3, BORG2 P CDC42 effector protein 3 606133 R, REc
2.182 8 27 09 2p21 COX7A2L, COX7RP, EB1 P Cytochrome c oxidase subunit VIIA, polypeptide 2-like 605771 R, REc
2.183 5 22 14 2p21 CRIPT, SSMDF P Cystine-rich PDZ binding protein 604594 REc Short stature with microcephaly and distinctive facies, 615789 (3)
2.184 4 21 10 2p21 DEL2p21, C2DELp21 P Homozygous 2p21 deletion syndrome 606407 Ch contiguous gene syndrome disrupting SLC3A1 and PREPL genes Hypotonia-cystinuria syndrome (4)
2.185 5 2 01 2p23.1 EHD3 P EH domain-containing 3 605891 R
2.186 12 19 11 2p21 EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8 C Epithelial cellular adhesion molecule 185535 A, REa previously assigned to 4q Diarrhea 5, with tufting enteropathy, congenital, 613217 (3); Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3)
2.187 9 9 08 2p16.3 FBXO11, FBX11, VIT1, PRMT9 P F-box only protein 11 607871 REc ?2p16 17(Fbxo11)
2.188 9 21 17 2p21 HAAO, VCRL1 P 3-hydroxyanthranilate 3,4-dioxygenase 604521 REc Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
2.189 8 27 09 2p21 KCNG3, KV6.3 C Potassium voltage-gated channel, subfamily G, member 3 606767 REc
2.190 10 7 08 2p21 LEPQTL1, LSL P Leptin serum levels quantitative trait locus 1 601694 Fd [Leptin serum levels QTL1] (2)
2.191 4 9 09 2p16.3 LHCGR, LHR, LCGR P Luteinizing hormone/choriogonadotropin receptor 152790 A Precocious puberty, male, 176410 (3); Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3); Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3); Luteinizing hormone resistance, female, 238320 (3); Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)
2.192 1 22 09 2p25.1 LPIN1 P Lipin 1 605518 REc related to LSL Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3) 12(Lpin1)
2.193 9 20 14 2p21 LRPPRC, LRP130, LSFC C Leucine-rich PPR motif-containing protein 607544 R, Fd, Ld Leigh syndrome, French-Canadian type, 220111 (3)
2.194 8 5 11 2p21 PKDCC, VLK, SGK493 P Protein kinase domain-containing protein, cytoplasmic, mouse, homolog of 614150 REc
2.195 4 30 09 2p21 PLEKHH2 P Pleckstrin homology domain-containing protein, family H, member 2 612723 REc
2.196 10 19 01 2p21 PPM1B P Protein phosphatase, magnesium-dependent, 1, beta isoform 603770 R formerly PP2CB
2.197 3 9 17 2p21 PREPL, KIAA0436, CMS22 C Prolyl endopeptidase-like 609557 R, REc, D mutation identified in 1 CMS22 patient ?Myasthenic syndrome, congenital, 22, 616224 (3)
2.198 8 4 99 2p21 PRKCE, PKCE P Protein kinase C, epsilon 176975 REc
2.199 7 1 02 2p22.2 PRKCN P Protein kinase C, nu 607077 R
2.200 7 11 93 2p22.2 PRKR C Protein kinase, interferon-inducible double stranded RNA dependent 176871 A 17(Prkr)
2.201 8 3 12 2p21 RHOQ, ARHQ, TC10 P Ras-homolog gene family, member Q 605857 R
2.202 4 15 11 2p21 SIX3, HPE2 C Sine oculis homeo box, Drosophila, homolog of, 3 603714 Ch, REc, A, R, Fd Holoprosencephaly 2, 157170 (3); Schizencephaly, 269160 (3) 17(Six3)
2.203 7 12 02 2p21 SOCS5, CIS6, KIAA0671 P Suppressor of cytokine signaling 5 607094 A also signals at 3p22
2.204 5 1 91 2p16.2 SPTBN1 P Spectrin, beta, nonerythrocytic-1 (beta-fodrin) 182790 REa, A
2.205 2 18 08 2p21 THADA, KIAA1767 P Thyroid adenoma-associated gene 611800 REc
2.206 5 19 15 2p21 TTC7A, TTC7, KIAA1140, MINAT, GIDID P Tetratricopeptide repeat domain 7A 609332 R, REc Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) 17(Ttc7a)
2.207 6 10 08 2p21 ZFP36L2, ERF2, TIS11D P Zinc finger protein 36-like 2 612053 REc incorrectly mapped to 6p21.3
2.208 1 27 11 2p21 MCFD2, F5F8D2 P Multiple coagulation factor deficiency protein 2 607788 REc Factor V and factor VIII, combined deficiency of, 613625 (3)
2.209 2 11 08 2p21 EPAS1, MOP2, HIF2A, ECYT4 C Endothelial PAS domain protein 1 603349 A, R Erythrocytosis, familial, 4, 611783 (3)
2.210 1 4 11 2p16.3 FSHR, ODG1 C Follicle stimulating hormone receptor 136435 A, Fd Ovarian dysgenesis 1, 233300 (3); Ovarian response to FSH stimulation, 276400 (3); Ovarian hyperstimulation syndrome, 608115 (3)
2.211 2 4 96 2p21 PIGF P Phosphatidylinositol glycan, class F 600153 A pseudogene on 5 17(Pigf)
2.212 8 25 04 2p21-p13 SCA25 P Spinocerebellar ataxia 25 608703 Fd Spinocerebellar ataxia 25 (2)
2.213 3 7 14 2p21-p12 DFNA58 P Deafness, autosomal dominant 58 615654 Fd between D2S2259 and D2S2114 Deafness, autosomal dominant 58 (2)
2.214 9 9 10 2p16.3 GTF2A1L, ALF P General transcription factor IIA, 1-like 605358 Psh, REc
2.215 11 19 11 2p16.3 NRXN1, PTHSL2, SCZD17 P Neurexin 1 600565 R, REc Pitt-Hopkins-like syndrome 2, 614325 (3); {Schizophrenia, susceptibility to, 17}, 614332 (3)
2.216 4 21 10 2p21 SLC3A1, ATR1, D2H, NBAT C Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1 104614 REa, Fd, A Cystinuria, 220100 (3)
2.217 10 4 12 2p16.3 STON1, STN1, SBLF, SALF P Stonin 1 605357 REc, Psh
2.218 2 16 18 2p16.2 ASB3 P Ankyrin repeat-containing SOCS box protein 3 605760 REc 11(Asb3)
2.219 4 21 17 2p16.2 CHAC2 P ChaC, E. coli, homolog of, 2 617446 REc
2.220 1 26 12 2p16.2 ERLEC1, C2orf30 P Erlectin (endoplasmic reticulum lectin 1) 611229 REc
2.221 4 28 10 2p16.2 ACYP2, ACYP P Acylphosphatase 2, muscle type 102595 REc
2.222 8 27 09 2p16.2 PSME4, PA200, KIAA0077 P Proteasome activator subunit 4 607705 REa, REc
2.223 8 31 16 2p16.1 BCL11A, CTIP1, EVI9, KIAA1809, DILOS P B-cell CLL/lymphoma 11A 606557 A Dias-Logan syndrome, 617101 (3)
2.224 6 1 17 2p16.1 CCDC88A, KIAA1212, HKRP1, GIRDIN, APE, GIV, PEHOL P Coiled-coil domain-containing protein 88A 609736 R, REc mutation identified in 1 PEHOL family ?PEHO syndrome-like, 617507 (3) 11(Ape)
2.225 9 8 14 2p16.1 HBFQTL5 P Fetal hemoglobin quantitative trait locus 5 142335 Fd associated with rs11886868 [Fetal hemoglobin QTL5] (2)
2.226 3 23 09 2p16.1 MIR216, MIRN216 P Micro RNA 216 610944 REc
2.227 3 14 13 2p16.1 MIR217 P Micro RNA 217 615096 REc
2.228 3 17 16 2p16.1 PAPOLG C Poly(A) polymerase, gamma 616865 REc
2.229 9 30 03 2p16.1 PHF9, FANCL P PHD finger protein 9 608111 R Fanconi anemia, complementation group L, 614083 (3)
2.230 11 29 12 2p16.1 PNPT1, OLD35, COXPD13, DFNB70 C Polyribonucleotide nucleotidyltransferase 1 610316 R, REc Combined oxidative phosphorylation deficiency 13, 614932 (3); Deafness, autosomal recessive 70, 614934 (3)
2.231 2 5 16 2p16.1 PPP4R3B, PP4R3B, SMEK2, KIAA1387 P Protein phosphatase 4, regulatory subunit 3, beta 610352 REc, R
2.232 3 17 16 2p16-p15 PUS10, DOBI P Pseudouridylate synthase 10 612787 REc
2.233 3 31 16 2p16.1 RPS27A, UBA80, HUBCEP80, CEP80, UBCEP1 P Ribosomal protein S27a 191343 R, REc
2.234 1 20 09 2p16.1-p15 DEL2p16.1-p15, C2DELp161-p15 P Chromosome 2p16.1-p15 deletion syndrome 612513 Ch contiguous gene deletion syndrome Chromosome 2p16.1-p15 deletion syndrome (4)
2.235 4 19 06 2p16 ASRT3 P Asthma-related traits, susceptibility to, 3 609958 Fd max lod at rs2063871 {Asthma-related traits, susceptibility to, 3} (2)
2.236 9 7 00 2p16 CNC2 P Carney complex, type II 605244 Fd Carney complex, type II (2)
2.237 6 2 99 2p16.1 EFEMP1, FBNL, DHRD C EGF-containing fibulin-like extracellular matrix protein 1 (fibrillin-like) 601548 A, Fd, REc, R Doyne honeycomb degeneration of retina, 126600 (3)
2.238 2 21 02 2p16.2 GPR75 P G protein-coupled receptor 75 606704 REc
2.239 12 1 11 2p16.3 MSH6, GTBP, HNPCC5 C MutS, E. coli, homolog of, 6 600678 REc, H 0.5 Mb from MSH2 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3); Endometrial cancer, familial, 608089 (3); Mismatch repair cancer syndrome, 276300 (3)
2.240 3 15 96 2p15 MDH1 C Malate dehydrogenase, soluble 154200 S, D, A proximal to APOB 11(Mor2)
2.241 9 3 10 2p16 STQTL24 P Stature quantitative trait locus 24 613549 Fd linked to rs1520446 {Stature QTL 24} (2)
2.242 5 11 98 2p15 XPO1, CRM1 P Exportin-1 (required for chromosome region maintenance) 602559 A
2.243 11 29 99 2p16-p15 DYX3 P Dyslexia, susceptibility to, 3 604254 Fd {Dyslexia, susceptibility to, 3} (2)
2.244 7 1 11 2p16-p15 GLC1H P Glaucoma 1, open angle, H 611276 Fd between D2S123 AND D2S2165 Glaucoma 1, open angle, H (2)
2.245 4 28 97 2p14 PPP3R1, CALNB1 P Protein phosphatase-3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I) 601302 REa, A
2.246 1 29 01 2p21 SIX2 P Sine oculis homeo box, Drosophila, homolog of, 2 604994 R 17(Six2)
2.247 5 29 98 2p16.1 VRK2 P Vaccinia-related kinase-2 602169 R
2.248 6 16 99 2p16.1 MTIF2 P Mitochondrial translational initiation factor 2 603766 A, Psh
2.249 11 3 05 2p15 COMMD1, MURR1 P Copper metabolism Murr1 domain-containing 1 607238 R
2.250 6 26 13 2p15 B3GNT2, B3GNT1, B3GNT P Beta-1,3-N-acetylglucosyaminyltransferase 2 605581 REc
2.251 5 26 05 2p15 CCT4, CCTD, SRB P Chaperonin containing T-complex polypeptide 1, subunit 4 605142 H, REc 11(mf)
2.252 4 23 08 2p15 EHBP1, KIAA0903, HPC12 P EH domain-binding protein 1 609922 R, REc {Prostate cancer, hereditary, 12}, 611868 (3)
2.253 10 27 10 2p15 FAM161A, RP28 P Family with sequence similarity 161, member A 613596 REc, Fd Retinitis pigmentosa 28, 606068 (3)
2.254 10 25 12 2p15 PEX13, ZWS, NALD, PBD11A, PBD11B P Peroxisome biogenesis factor 13 (peroxin 13) 601789 A Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3); Peroxisome biogenesis disorder 11B, 614885 (3)
2.255 12 17 12 2p15 TMEM17 P Transmembrane protein 17 614950 REc
2.256 7 1 13 2p15 USP34, KIAA0570 P Ubiquitin-specific protease 34 615295 R, REc
2.257 1 29 15 2p15 WDPCP, C2orf86, BBS15, CHDTHP P WD repeat-containing planar cell polarity effector 613580 REc mutation identified in 1 BBS15 family and 1 CHDTHP patient ?Bardet-Biedl syndrome 15, 615992 (3); ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3)
2.258 12 29 09 2p14 ETAA1, ETAA16 P Ewing tumor-associated antigen 1 613196 REc, A
2.259 10 24 11 2p13.3 NFU1, HIRIP, MMDS1 P NFU1 iron-sulfur cluster scaffold, S. cerevisiae, homolog of 608100 R, M Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
2.260 11 11 14 2p14 ACTR2, ARP2 P Actin-related protein 2 604221 REc
2.261 5 23 07 2p13.3 AFPL, C2orf13 P Aprataxin- and PNK-like factor 611035 REc
2.262 4 8 16 2p14 CEP68, KIAA0582 C Centrosomal protein, 68kD 616889 R, REc
2.263 4 6 18 2p14 LGALSL C Galectin-like protein 617902 REc
2.264 4 1 96 2p14 RAB1, RAB1A P RAB1, member RAS oncogene family 179508 REa, R 11(Rab1)
2.265 1 25 18 2p14 SERTAD2, TRIPBR2, KIAA0127 P SERTA domain-containing protein 2 617851 REc
2.266 11 25 15 2p14 SLC1A4, SATT, ASCT1, SPATCCM P Solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 600229 A, REc Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)
2.267 10 11 07 2p14 SPRED2 P Sprouty-related EVH1 domain-containing protein 2 609292 REc 11(Spred2)
2.268 6 1 12 2p15-p14 VPS54, VPS54L, WR P Vacuolar protein sorting 54, S. Cerevisiae, homolog of 614633 H, REc 14(Vps54)
2.269 7 3 06 2p14-p13.3 HRPT3 P Hyperparathyroidism 3 610071 Fd between D2S2368 and D2S358 Hyperparathyroidism 3 (2)
2.270 12 17 95 2p13.3 ADD2 C Adducin-2, beta 102681 REa, A 6(Add2)
2.271 11 6 94 2p13.2 EMX1 C Empty spiracles, Drosophila, homolog of, 1 600034 REa, A close to VAX2 6(Dmx1)
2.272 4 18 97 2p14 MEIS1 P Meis1, mouse, homolog of 601739 A 11(Meis1)
2.273 7 20 09 2p14-p13 RLS7 P Restless legs syndrome, susceptibility to, 7 612853 Fd associated with rs2300478 {Restless legs syndrome 7} (2)
2.274 11 29 00 2p16.1 RTN4, NOGO C Neurite outgrowth inhibitor (reticulon 4) 604475 R
2.275 10 23 87 2p15 UGP2, UGPP2 C Uridyl diphosphate glucose pyrophosphorylase-2 191760 REa, A
2.276 4 15 09 2p13.2 SPR P Sepiapterin reductase 182125 A Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3) 1(Spr)
2.277 11 29 01 2q21.3 CCNT2 P Cyclin T2 603862 R
2.278 6 23 15 2p13.3 AAK1, KIAA1048 P Adaptor protein 2-associated kinase 1 616405 R, REc
2.279 6 27 16 2p13.3 ANKRD53 P Ankyrin repeat domain-containing protein 53 617009 REc
2.280 3 3 16 2p13.3 BMP10 P Bone morphogenetic protein 10 608748 REc
2.281 3 20 15 2p13.3 FAM136A P Family with sequence similarity 136, member A 616275 REc
2.282 6 27 05 2p13.3 GKN1, CA11 C Gastrokine 1 606402 REc
2.283 8 27 02 2p13.1 LOXL3 P Lysyl oxidase-like 3 607163 REc
2.284 1 6 09 2p13.3 MCEE P Methylmalonyl-CoA epimerase 608419 REc Methylmalonyl-CoA epimerase deficiency, 251120 (3)
2.285 8 27 09 2p13.3 NAGK, GNK P N-acetylglucosamine kinase 606828 R, REc
2.286 8 20 07 2p13.3 PAIP2B P Polyadenylate-binding protein-interacting protein 2B 611018 R, REc
2.287 9 2 12 2p14 PELI1 P Pellino, Drosophila, homolog of, 1 614797 REc
2.288 5 22 07 2p13.3 PCYOX1, PCL1, KIAA0908 P Prenylcysteine oxidase 1 610995 R, REc
2.289 9 7 12 2p13.3 PROKR1, PKR1, GPR73 P Prokineticin receptor 1 607122 REc, R
2.290 5 25 13 2p13.3 SNRPG P Small nuclear ribonucleoprotein polypeptide G 603542 REc
2.291 3 21 02 2p13.2 DYSF, LGMD2B, MMD1 C Dysferlin 603009 Fd, A Muscular dystrophy, limb-girdle, type 2B, 253601 (3); Myopathy, distal, with anterior tibial onset, 606768 (3); Miyoshi muscular dystrophy 1, 254130 (3) 6(Dysf)
2.292 4 18 12 2p13.2 CYP26B1, CYP26A2, P450RAI2, RHFCA P Cytochrome P450, subfamily XXVIB, polypeptide 1 605207 REc Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 (3)
2.293 9 9 08 2p13.2 FBXO41, FBX41, KIAA1940 P F-box only protein 41 609108 REc 6(Fbxo41)
2.294 8 27 09 2p13.2 EXOC6B, SEC15B, KIAA0919 P Exocyst complex component 6B 607880 R, REc
2.295 11 19 11 2p13.3-p13.2 ZNF638, NP220 P Zinc finger protein 638 614349 REc
2.296 6 3 14 2p13.1 ACTG2, ACTA3, VSCM C Actin, gamma-2, smooth muscle, enteric 102545 REa, A Visceral myopathy, 155310 (3)
2.297 9 15 17 2p13.3 ANTXR1, TEM8, ATR, GAPO P Anthrax toxin receptor 1 606410 REc mutation identified in 1 HCI patient GAPO syndrome, 230740 (3); {?Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
2.298 1 18 12 2p13.3 ASPRV1, SASP, TAPS, MUNO P Aspartic peptidase, retroviral-like 1 611765 REc
2.299 3 20 16 2p13.1 BOLA3, MMDS2 P BolA, E. coli, homolog of, 3 613183 REc, M Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 (3)
2.300 8 27 09 2p13.1 DUSP11, PIR1 P Dual specificity phosphatase-11, RNA/RNP complex-interacting 603092 TM, REc
2.301 4 23 13 2p13.1 MOGS, GCS1, CDG2B P Mannosyl-oligosaccharide glucosidase 601336 A, Psh Congenital disorder of glycosylation, type IIb, 606056 (3)
2.302 9 12 13 2p13.1 STAMBP, AMSH, MICCAP C STAM binding protein 606247 A, REc Microcephaly-capillary malformation syndrome, 614261 (3)
2.303 6 13 12 2p13.1 TET3, KIAA0401 P TET oncogene family, member 3 613555 R, REc
2.304 10 31 17 2p13.1 TPRKB, GAMOS5 C TP53RK-binding protein 608680 A, REc Galloway-Mowat syndrome 5, 617731 (3)
2.305 2 26 02 2p13.1 NAT8, TSC510 P N-acetyltransferase 8 606716 R
2.306 5 25 13 2p13.1 NAT8B, CML2 P N-acetyltransferase 8B 608190 REc
2.307 7 17 02 2p13.1 TLX2, HOX11L1 P T-cell leukemia, homeobox 2 604240 REc
2.308 4 10 02 2p13.1 ALMS1, ALSS, KIAA0328 C Alstrom syndrome gene 606844 LD, Fd, REc Alstrom syndrome, 203800 (3)
2.309 2 9 92 2p13.3 ANXA4, ANX4 P Annexin A4 (placental anticoagulant protein II) 106491 Psh, A 6(Anx4)
2.310 11 30 06 2p13.3 ARHGAP25, KAIA0053 C RHO GTPase-activating protein 25 610587 Psh, REc
2.311 6 16 99 2p13.1 AUP1 P Ancient ubiquitous protein 1 602434 REc 6(Aup1)
2.312 12 26 13 2p13.2 CCT7 P Chaperonin containing T-complex polypeptide 1, subunit 7 605140 REc
2.313 3 7 14 2p13.3 CD207, LANGERIN, CLEC4K P CD207 antigen 604862 R mutation identified in 1 patient [?Birbeck granule deficiency], 613393 (3) 6(Langerin)
2.314 3 3 09 2p13.1 DCTN1, HMN7B C Dynactin 1 (p150, glued, Drosophila, homolog of) 601143 A, R Neuropathy, distal hereditary motor, type VIIB, 607641 (3); {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3); Perry syndrome, 168605 (3)
2.315 8 17 16 2p13.1 DGUOK, DGK, MTDPS3, PEOB4, NCPH P Deoxyguanosine kinase, mitochondrial 601465 Fd, REc Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3); Portal hypertension, noncirrhotic, 617068 (3)
2.316 12 15 98 2p13.1 DOK1 P Downstream of tyrosine kinase 1 602919 R 6(Dok1)
2.317 8 24 92 2p13.2 EGR4, NGFIC P Early growth response-4 128992 A 6(Egr4)
2.318 4 30 15 2p13.3 GFPT1, GFAT1, GFPT1L, MSLG, CMS12, CMSTA1 C Glutamine-fructose-6-phosphate transaminase 138292 A Myasthenia, congenital, 12, with tubular aggregates, 610542 (3)
2.319 7 9 15 2p13.1 INO80B, PAPA1, HMGA1L4 P INO80 complex, subunit B 616456 A
2.320 8 27 02 2p13.1 LBX2 P Lady bird-like homeo box 2 607164 Psh, R 6(Lbx2)
2.321 11 27 94 2p13.3 MAD P MAD protein (MAX-binding protein) 600021 A
2.322 8 20 98 2p13 OFC2 P Orofacial cleft-2 602966 Fd ?relation to TGFA Orofacial cleft-2 (2)
2.323 11 6 94 2p15 OTX1 P Orthodenticle, Drosophila, homolog of, 1 600036 REa, A
2.324 10 28 99 2p13 PEE1, PREG1 C Preeclampsia/eclampsia 1 189800 Fd ?distinct loci at 2p25 and 9p13 Preeclampsia/eclampsia 1 (2)
2.325 4 23 98 2p13.1 RTKN P Rhotekin 602288 Psh 6(Rtkn)
2.326 4 10 15 2p13 PARK3 P Parkinson disease 3 602404 Fd {Parkinson disease 3} (2)
2.327 6 28 99 2p13.1 SEMAW P Semaphorin W 603706 R 6(Semawa)
2.328 12 27 13 2p13.2 SFXN5 P Sideroflexin 5 615572 REc
2.329 5 6 03 2p13.1 SLC4A5, NBC4 P Solute carrier family 4, sodium bicarbonate cotransporter, member 5 606757 REc
2.330 7 10 93 2p13.3 TGFA C Transforming growth factor, alpha 190170 REa, A 6(Tgfa)
2.331 4 17 13 2p13.3 TIA1, WDM P TIA1 cytotoxic granule-associated RNA-binding protein 603518 A, Fd Welander distal myopathy, 604454 (3)
2.332 12 31 99 2p13.3 VAX2 P Ventral anterior homeo box 2 604295 R 6(Vax2)
2.333 6 3 02 2p14 C1D, SUNCOR P Nuclear DNA-binding protein C1D 606997 REc pseudogene on chr.10
2.334 3 9 98 2p13.3 PCBP1 P Poly(rC)-binding protein-1 601209 A
2.335 8 27 09 2p13.2 RAB11RIP5, RIP11, KIAA0857 P Rab11 family-interacting protein 5 605536 R, REc
2.336 5 1 91 2p16.1 REL P Oncogene REL, avian reticuloendotheliosis 164910 REa 11(Rel)
2.337 7 22 13 2p12 CTRCT27, CCNP P Cataract 27, nuclear progressive 607304 Fd near D2S2333 Cataract 27, nuclear progressive (2)
2.338 5 27 05 2p11.2 CD8A C CD8 antigen, alpha polypeptide (p32) 186910 REa, A distal to IGK CD8 deficiency, familial, 608957 (3) 6(Ly2)
2.339 9 12 93 2p11.2 CD8B1, CD8B C CD8 antigen, beta polypeptide 1 (p37) 186730 REa, H pseudogene, CD8B2, on 2q12 6(Ly3)
2.340 1 6 11 2p12 DFNA43 P Deafness, autosomal dominant 43 608394 Fd max lod at D2S139 Deafness, autosomal dominant 43 (2)
2.341 8 14 00 2p11.2 EIF2AK3, PEK, PERK, WRS C Eukaryotic translation initiation factor 2-alpha kinase 3 604032 A, R, Fd Wolcott-Rallison syndrome, 226980 (3)
2.342 9 23 08 2p13.3 FIGLA, POF6 P Factor in germline alpha, mouse, homolog of 608697 REc Premature ovarian failure 6, 612310 (3)
2.343 3 13 07 2p11.2 GGCX, VKCFD1 P Gamma-glutamyl carboxylase 137167 REa, A Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3); Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3)
2.344 4 11 97 2p12 HK2 P Hexokinase-2, muscle 601125 Fd no recombination with TGFA
2.345 7 24 15 2p11.2 IGKC, IGKCD C Immunoglobulin kappa constant region 147200 REa, A Kappa light chain deficiency, 614102 (3) 6(Igkc)
2.346 4 15 08 2p12 IGKJ@ C Immunoglobulin kappa light chain joining gene cluster 146970 REa, A 5 genes
2.347 4 15 08 2p12 IGKV@ C Immunoglobulin kappa light chain variable gene cluster 146980 REa, A 25+ genes in 4 classes; orphon gene 1.5Mb telomeric of IGKC 6(Igkv)
2.348 6 18 91 2p11.2 IGKDEL P Immunoglobulin kappa polypeptide deleting element 146780 RE 6(Igkrs)
2.349 2 5 16 1p36.12 PLA2G2F P Phospholipase A2, group IIf 616793 REc 4(Pla2g2f)
2.350 3 26 07 2p12 LRRTM1 P Leucine-rich repeat transmembrane protein 1 610867 REn, H 6(Lrrtm1)
2.351 3 26 07 2p12 LRRTM4 P Leucine-rich repeat transmembrane protein 4 610870 REn, H 6(Lrrtm4)
2.352 3 5 08 2p13.1 MRPL53 P Mitochondrial ribosomal protein L53 611857 R, REc pseudogene on 1
2.353 3 17 94 2p12 PAP C Pancreatitis-associated protein 167805 REa, A, REc
2.354 10 7 02 2p12 POLE4 P Polymerase, DNA, epsilon-4 607269 REc
2.355 12 19 16 2p13.1 HTRA2, OMI, PARK13, PRSS25, MGCA8 C HTRA serine peptidase 2 606441 REc, A {Parkinson disease 13}, 610297 (3); 3-methylglutaconic aciduria, type VIII, 617248 (3)
2.356 3 14 96 2p12 REG1A, PSPS1, REG C Regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein) 167770 A, Psh, REc 12(Reg1)
2.357 2 28 06 2p12 REG3G, PAP1B P Regenerating islet-derived 3-gamma 609933 REc
2.358 10 4 93 2p12 REGL, PSPS2 P Regenerating islet-derived, rat, homolog-like (pancreatic stone protein-like; pancreatic thread protein-like) 167771 A ?3(Reg2)
2.359 5 28 02 2p13.1 WBP1 P WW domain-binding protein 1 606961 A
2.360 2 1 11 2p12-p11.2 DEL2p12p11.2, C2DELp12p11.2 P Chromosome 2p12-p11.2 deletion syndrome 613564 Ch contiguous gene deletion syndrome Chromosome 2p12-p11.2 deletion syndrome (4)
2.361 5 21 07 2p11.2 SFTPB, SFTB3, SMDP1 C Pulmonary surfactant-associated protein B, 18kD 178640 REa, A Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3) 6(Sftp3)
2.362 5 13 02 2p11.2 VAMP8 P Vesicle-associated membrane protein 8 603177 R 6(Vamp8)
2.363 8 11 98 2p12 CTNNA2, CAPR, CTNR P Catenin, alpha-2 (cadherin-associated protein, related) 114025 A 6(Capr)
2.364 1 31 00 2p11.2 GNLY, D2S69E, TLA519 P Granulysin (T-lymphocyte activation gene 519) 188855 A
2.365 3 5 03 2p12-q22 HSR P Hand skill, relative 139900 Fd [Handedness] (2)
2.366 5 2 94 2p22.3 LTBP1 P Latent transforming growth factor beta binding protein 1 150390 REa
2.367 9 29 13 2p11.2 ELMOD3, RBED1, DFNB88 P ELMO/CED12 domain-containing protein 3 615427 REc one family identified with mutation ?Deafness, autosomal recessive 88, 615429 (3)
2.368 2 21 06 2p11.2 DNAH6, HL2 C Dynein, axonemal, heavy chain 6 603336 A, R, REc
2.369 10 21 08 2p11.2 FOXI3 P Forkhead box I3 612351 REc
2.370 2 20 09 2p11.2 IMMT, HMP C Inner membrane protein, mitochondrial (mitofilin) 600378 REc, R pseudogene on chr.21
2.371 7 18 12 2p11.2 KCMF1, DEBT91, FIGC P Potassium channel modulatory factor 1 614719 REc, H
2.372 10 24 11 2p11.2 KDM3A, JMJD1A, JHDM2A, TSGA, KIAA0742 P Lysine-specific demethylase 3A 611512 R, REc
2.373 8 4 97 2p11.2 MAT2A, MATA2, SAMS2 P Methionine adenosyltransferase II, alpha 601468 A
2.374 3 5 08 2p11.2 MRPL35 P Mitochondrial ribosomal protein L35 611841 REc pseudogenes on 6, 10, and X
2.375 5 19 15 2p11.2 PARTICL P Promoter of MAT2A antisense radiation-induced circulating long noncoding RNA 616350 REc overlaps promoter of MAT2A on opposite strand
2.376 7 9 15 2p11.2 POLR1A, RPA194, AFDCIN P Polymerase I, RNA, subunit A 616404 REc Acrofacial dysostosis, Cincinnati type, 616462 (3)
2.377 12 10 12 2p11.2 PTCD3 P Pentatricopeptide repeat domain-containing protein 3 614918 REc
2.378 1 21 15 2p11.2 REEP1, C2orf23, SPG31, HMN5B P Receptor expression-enhancing protein 1 609139 Fc, R, REc mutation identified in 1 HMN5B family Spastic paraplegia 31, autosomal dominant, 610250 (3); ?Neuronopathy, distal hereditary motor, type VB, 614751 (3)
2.379 7 27 17 2p11.2 RETSAT C Retinol saturase 617597 REc
2.380 4 23 09 2p11.2 RGPD1, RGP1 P RANBP2-like and GRIP domain-containing protein 1 612704 REn
2.381 4 23 09 2p11.2 RGPD2, RGP2 P RANBP2-like and GRIP domain-containing protein 2 612705 REn
2.382 12 22 08 2p11.2 RNF181 P Ring finger protein 181 612490 R, REc
2.383 2 17 15 2p11.2 RPIA, RPI, RPIAD P Ribose 5-phosphate isomerase A 180430 R, REc mutation identified in 1 RPAID patient ?Ribose 5-phosphate isomerase deficiency, 608611 (3)
2.384 9 16 16 2p11.2 SIAT9, ST3GALV, SPDRS C Sialyltransferase 9 604402 REc, Fd Salt and pepper developmental regression syndrome, 609056 (3)
2.385 12 13 17 2p11.2 SMYD1, BOP, ZMYND18 P SET and MYND domain-containing protein 1 606846 REc
2.386 12 27 10 2p11.2 SUCLG1, SUCLA1, MTDPS9 P Succinate-CoA ligase, alpha subunit 611224 R, REc Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)
2.387 6 13 12 2p11.2 TCF7L1 P Transcription factor 7-like 1 604652 REc
2.388 3 4 10 2p11.2 TGOLN2, TGN46, TGN38 P Trans-golgi network protein 2, 46kD 603062 A
2.389 8 19 13 2p11.2 THNSL2, THS2 P Threonine synthase-like 2 611261 REc
2.390 1 14 16 2p11.2 TMEM150A, TMEM150 P Transmembrane protein 150A 616757 REc
2.391 3 7 14 2p11.2 TMSB10 P Thymosin, beta-10 188399 REc
2.392 12 10 12 2p11.2 TRABD2A, TIKI1 P TRAB domain-containing protein 2A 614912 REc
2.393 2 23 08 2p11.2 USP39, SAD1 P Ubiquitin-specific protease 39 611594 REc
2.394 8 27 09 2p11.2 VAMP5 P Vesicle-associated membrane protein 5 (myobrevin) 607029 R, REc
2.395 6 24 99 2p11.2 ZFP103, KF1 P Zinc finger protein 103, mouse, homolog of 602507 A
2.396 9 19 00 2p12 C2orf3, TCF9, GCF P GC factor 189901 A
2.397 1 30 07 2q11.2 ANKRD23, DARP P Ankyrin repeat domain-containing protein 23 610736 REc
2.398 2 28 08 2p12 MRPL19, MRPL15, KIAA0104 C Mitochondrial ribosomal protein L19 611832 Psh, R
2.399 4 23 08 2q11.1 MRPS5 P Mitochondrial ribosomal protein S5 611972 R, REc
2.400 1 25 88 2p11.2 FABP1 C Fatty acid-binding protein, liver 134650 REa, A 6(Fabpl)
2.401 11 23 16 2q11.2 NEURL3, LINCR P Neuralized E3 ubiquitin protein ligase 3 617206 REc
2.402 7 15 04 2p12 TACR1, TAC1R, NK1R C Tachykinin receptor 1 (substance P receptor; neurokinin-1 receptor) 162323 REa, Psh, Fd
2.403 9 2 08 2p11.2 PLGLB1, PLGL, PRGB P Plasminogen-like B1 173340 REa, A
2.404 9 20 00 2p14 PLEK L Pleckstrin 173570 H 11(Plek)
2.405 12 4 95 2p24.2 VSNL1 P Visinin-like 1 600817 Fd
2.406 1 5 99 2p13.3 ATP6B1, VPP3 C ATPase, H+ transporting, lysosomal, beta polypeptide, 58kD (vacuolar proton pump, subunit 3) 192132 REa, R, Fd Renal tubular acidosis with deafness, 267300 (3) 8(Atp6b1)
2.407 3 8 91 2q11.2 COX5B P Cytochrome c oxidase, subunit Vb 123866 REa 7 pseudogenes on 4, 6, 7, 11, 12, 13, and 22
2.408 2 14 02 2cen-q13 GLC1B P Glaucoma 1, open angle, B (adult-onset) 606689 Fd Glaucoma 1B, primary open angle, adult onset, (2)
2.409 10 23 87 2q14.2 INHBB P Inhibin, beta-2 147390 REa 1(Inhbb)
2.410 10 23 87 2q11.1 MAL P T-lymphocyte maturation-associated protein 188860 REa
2.411 12 19 90 2q14.2 RALB P RAS-like protein B 179551 REa
2.412 1 1 95 2p11.2 CAPG P Capping protein (actin filament), gelsolin-like 153615 Psh, A
2.413 3 24 05 2q AUTS5 P Autism, susceptibility to, 5 606053 Fd max lod at D2S188 {Autism susceptibility 5} (2)
2.414 2 28 06 2q COPD P Pulmonary disease, chronic obstructive, severe early-onset 606963 Fd ?SERPINE2 Pulmonary disease, chronic obstructive, severe early-onset (2)
2.415 10 7 98 2q11.2 CNGA3, CNG3, ACHM2 P Cyclic nucleotide-gated channel, alpha-3 600053 Fd, R Achromatopsia 2, 216900 (3)
2.416 10 15 98 2q11.2 DUSP2, PAC1 C Dual-specificity phosphatase-2 603068 REa, A
2.417 7 26 10 2q11.2 TMEM127 P Transmembrane protein 127 613403 REc {Pheochromocytoma, susceptibility to}, 171300 (3)
2.418 4 25 08 2q11-q12 CELIAC8 P Celiac disease, susceptibility to, 8 612006 Fd associated with rs917997 and rs13015714 {Celiac disease, susceptibility to, 8} (2)
2.419 12 17 12 2q13 EDAR, DL, ED3, EDA3, HRM1, ECTD10A, ECTD10B C Ectodysplasin 1, anhidrotic receptor (downless, mouse, homolog of) 604095 Fd, R Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3); Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3); [Hair morphology 1, hair thickness], 612630 (3)
2.420 10 3 11 2q13 RANBP2, NUP358, ANE1, IIAE3 P RAN-binding protein 2 601181 A {Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3) 10(Ranbp2)
2.421 3 20 08 2q11-q14 NNO3 P Nanophthalmos 3 611897 Fd max lod at D2S2265 Nanophthalmos 3 (2)
2.422 8 17 98 2q14.1 SLC20A1, GLVR1 P Solute carrier family 20, phosphate transporter, member 1 (Gibbon ape leukemia virus receptor-1) 137570 REa, A 2(Slc20a1)
2.423 9 9 10 2q11.1 KCNIP3, KCHIP3, CSEN, DREAM P Potassium channel-interacting protein 3 604662 REc
2.424 10 25 16 2q11.1 PROM2, PROML2 P Prominin 2 617160 REc, H 2(Prom2)
2.425 1 30 01 2q11.2 ACTR1B, ARP1B, CTRN2 P Actin-related protein 1B 605144 REa, A
2.426 4 23 98 2q12.3 SULT1C1 P Sulfotransferase 1C1 602385 Psh
2.427 6 18 15 2q11.2 ADRA2B, ADRA2L1, FAME2 C Adrenergic, alpha-2B-, receptor 104260 REa, REc, Fd Epilepsy, myoclonic, familial adult, 2, 607876 (3)
2.428 12 7 07 2q11.2 ARID5A, MRF1 P AT-rich interactive domain-containing protein 5A 611583 R, REc
2.429 8 17 98 2q11.2 BRRN1 P Barren, Drosophila, homolog of, 1 602332 REa, REc, R
2.430 7 31 15 2q11.2 COA5, C2orf64, PET191, CEMCOX3 P Cytochrome c oxidase assembly factor 5 613920 REc mutation identified in 1 CEMCOX3 family ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 (3)
2.431 8 27 09 2q11.2 CHST10, HNK1ST P Carbohydrate sulfotransferase 10 606376 R, REc
2.432 8 31 12 2q11.2 CIAO1, WDR39 P WD repeat-containing protein CIAO1 604333 A, R
2.433 8 31 09 2q11.2 CNNM3, ACDP3 C Cyclin M3 607804 R, REc previously assigned to 2p12-p11.2
2.434 8 31 09 2q11.2 CNNM4, ACDP4 C Cyclin M4 607805 R, Fd, REc Jalili syndrome, 217080 (3) 1(Cnnm4)
2.435 9 30 09 2q24.1 CYTIP, PSCDBP, HE P Cytohesin 1 interacting protein 604448 Re, R
2.436 6 23 15 2q11.2 GPAT2 P Glycerol-3-phosphate acyltransferase 2, mitochondrial 616431 REc
2.437 2 9 00 2q12.1 IL1RL1 C Interleukin 1 receptor-like 1 601203 REa, A, R
2.438 10 24 00 2q11.2 INPP4A, INPP4 P Inositol polyphosphate-4-phosphatase, type I, 107kD 600916 A
2.439 10 25 17 2q11.2 KANSL3, NSL3, KIAA1310 P Kat8 regulatory NSL complex, subunit 3 617742 REc
2.440 4 4 16 2q11.2 LMAN2L, VIPL, MRT52 P LMAN2-like protein 609552 REc mutation identified in 1 MRT52 family ?Mental retardation, autosomal recessive, 52, 616887 (3)
2.441 4 30 15 2q11.2 LIPT1, LIPT1D P Lipoyltransferase 1 610284 A Lipoyltransferase 1 deficiency, 616299 (3)
2.442 9 21 15 2q11.2 LYG2, LYSG2 P Lysozyme G-like 2 616547 REc
2.443 2 25 15 2q11.2 MAP4K4, HGK, NIK, KIAA0687 P Mitogen-activated protein kinase kinase kinase kinase 4 604666 REc
2.444 2 28 08 2q11.2 MRPL30, MRPL28 P Mitochondrial ribosomal protein L30 611838 R
2.445 12 17 07 2q11.2 PDCL3, PHLP3, VIAF P Phosducin-like 3 611678 R, REc
2.446 8 3 12 2q11.2 REV1L, REV1 P Rev1, S. cerevisiae, homolog of 606134 REc
2.447 4 21 17 2q11.2 RPL31 P Ribosomal protein L31 617415 Psh
2.448 1 1 96 2q12.1 SLC9A2 C Solute carrier family 9 (sodium/hydrogen exchanger), member 2 600530 REa, A 1(Slc9a2)
2.449 2 19 10 2q11.2 SNRNP200, ASCC3L1, KIAA0788, RP33 P Small nuclear ribonucleoprotein 200kD (U5) 601664 R, REc, Fd Retinitis pigmentosa 33, 610359 (3)
2.450 12 22 15 2q11.2 STARD7, GTT1 P START domain-containing protein 4 616712 REc
2.451 1 27 04 2q12.3 SULT1C2 P Sulfotransferase family 1C, member 2 608357 REc
2.452 3 7 14 2q11.2 TMEM131, KIAA0257, CC28 C Transmembrane protein 131 615659 REc, R
2.453 8 27 02 2q11.2 TSGA10 P Testis-specific protein 10 607166 Psh, A
2.454 2 4 09 2q11.2 TXNDC9, PHLP3 P Thioredoxin domain-containing protein 9 612564 REc
2.455 12 22 17 2q11.2 UNC50, UNCL, GMH1 P Unc50, inner nuclear membrane RNA-binding protein 617826 REc
2.456 5 23 16 2q11.2 VWA3B, SCAR22 P von Willebrand factor A domain-containing protein 3B 614884 REc mutation identified in 1 SCAR22 family ?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)
2.457 3 1 01 2q11.1 ZNF2 C Zinc finger protein-2 194500 REa, A
2.458 5 5 00 2q12.1 GPR45 P G protein-coupled receptor 45 604838 A
2.459 10 17 96 2q11.2 LAF4 C Lymphoid nuclear protein related to AF4 601464 A, Ch 1(Laf4)
2.460 2 19 04 2q12.3 ST6GALII, KIAA1877 C Beta-galactoside alpha-2,6-sialyltransferase II 608472 R, REc
2.461 3 1 00 2q12.1 IL18R1, IL1RRP P Interleukin 18 receptor 1 604494 R
2.462 3 10 00 2q12.1 IL18RAP, ACPL P Interleukin 18 receptor accessory protein 604509 R
2.463 8 17 98 2q11.2-q12.1 IL1R1, IL1RA P Interleukin-1 receptor, type I 147810 REa, A 1(Il1r)
2.464 2 9 00 2q12.1 IL1RL2, IL1RRP2 P Interleukin 1 receptor-like 2 604512 R
2.465 3 8 00 2q11.2 MGAT4A P Alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 604623 A
2.466 5 12 00 2q12.2 NCK2 P NCK adaptor protein 2 604930 A
2.467 12 23 05 2q12.2 UXS1, UGD P UDP-glucuronate decarboxylase 1 609749 R, REc
2.468 6 30 16 2q11.2 ZAP70, SRK, ADMIO2, IMD48 C Zeta-chain associated protein kinase, 70kD (syk-related tyrosine kinase) 176947 A Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3); Immunodeficiency 48, 269840 (3) 1(Zap70)
2.469 7 9 06 2q14.2 MARCO P Macrophage receptor with collagenous structure 604870 A 1(Marco)
2.470 6 23 98 2q12.2 FHL2, DRAL P Four and a half LIM domains-2 (Down-regulated in rhabdomyosarcoma LIM protein) 602633 A
2.471 9 28 00 2q12-q14 IGKV1OR2-108, IGO1 P Immunoglobulin orphon (transposed element) 1 147185 A
2.472 8 27 01 2q14.1 PAX8 C Paired box homeotic gene-8 167415 REa, A Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3) 2(Pax8)
2.473 1 5 93 2q14.2 DBI I Diazepam-binding inhibitor 125950 A, REa ?on 6q21-qter
2.474 12 21 98 2q11.2 IL1R2, IL1RB P Interleukin-1 receptor, type II 147811 REa, A 1(Il1rb)
2.475 9 10 07 2q37.1 SNORD82, RNU82 P Small nucleolar RNA, C/D box, 82 611133 REc
2.476 2 26 95 2q37.1 NCL P Nucleolin 164035 REa
2.477 9 1 11 2q14.1 IL37, IL1F7, FIL1Z, IL1H4, IL1RP1 P Interleukin 37 605510 R
2.478 8 17 16 2q12.1 LNC13 P Long noncoding RNA 13 617071 REc
2.479 4 23 08 2q12.1 MRPS9 P Mitochondrial ribosomal protein S9 611975 R, REc
2.480 4 13 98 2q12.1 POU3F3 P POU domain, class 3, transcription factor-3 602480 A previously mapped to 3p14.2 1(Pou3f3)
2.481 4 30 09 2q12.1 SLC9A4, NHE4 P Solute carrier family 9 (sodium/hydrogen exchanger), member 4 600531 REa 1(Slc9a4)
2.482 8 27 09 2q12.1-q12.2 TGFBRAP1, TRAP1 P Transforming growth factor-beta receptor-associated protein 1 606237 REc
2.483 9 2 08 2q12.2 PLGLA, PRGA P Plasminogen-like A 612212 R, REc
2.484 10 11 16 2q12.3 SULT1C3 P Sulfotransferase family 1C, member 3 617151 REn
2.485 4 23 09 2q12.3 GCC2, GCC185, KIAA0336 C GRIP and coiled-coil domains-containing protein 2 612711 R, REc
2.486 10 11 16 2q12.3 SLC5A7, CHT1, HMN7A, CMS20 P Solute carrier family 5 (choline transporter), member 7 608761 REc, R Neuronopathy, distal hereditary motor, type VIIA, 158580 (3); Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3)
2.487 4 23 09 2q12.2 RGPD3, RGP3 P RANBP2-like and GRIP domain-containing protein 3 612706 REn
2.488 4 23 09 2q12.3 RGPD4, RGP4 P RANBP2-like and GRIP domain-containing protein 4 612707 REn
2.489 4 23 09 2q13 RGPD5, RGP5, BS63 P RANBP2-like and GRIP domain-containing protein 5 612708 REn
2.490 4 23 09 2q13 RGPD6, RGP6 P RANBP2-like and GRIP domain-containing protein 6 612709 REn
2.491 4 23 09 2q12.3-q13 RGPD7, RGP7 P RANBP2-like and GRIP domain-containing protein 7 612710 REn
2.492 4 23 09 2q14.1 RGPD8, RGP8, RANBP2L1 C RANBP2-like and GRIP domain-containing protein 8 602752 A, REc
2.493 3 6 08 2q14.1 DPP10, DPRP3, KIAA1492 P Dipeptidyl peptidase X 608209 REc
2.494 8 8 13 2q13 ANAP1, APC1 P Anaphase-promoting complex, subunit 1 608473 Psh, A, R
2.495 10 11 16 2q13 BCL2L11, BIM P BCL2-like 11 603827 A, REc
2.496 1 12 15 2q14.1 CKAP2L, RADMIS P Cytoskeleton-associated protein 2-like 616174 REc Filippi syndrome, 272440 (3)
2.497 3 31 03 2q13 COMA P Cogan-type congenital oculomotor apraxia 257550 D independent gene or feature of nephronophthisis Oculomotor apraxia, congenital, Cogan-type (2)
2.498 3 17 08 2q13-q14 FBLN7, TM14 P Fibulin 7 611551 REc
2.499 10 15 97 2q13 MALL, BENE C mal, T-cell differentiation protein-like 602022 REn, REc
2.500 9 1 11 2q14.1 IL36RN, IL1F5, FIL1D, IL1HY1, IL1RP3, PSORP, PSORS14 C Interleukin 36 receptor antagonist 605507 R, REc Psoriasis 14, pustular, 614204 (3)
2.501 9 1 11 2q14.1 IL36A, IL1F6, FIL1E C Interleukin 36, alpha 605509 REc, R
2.502 9 1 11 2q14.1 IL36B, IL1F8, IL1H2, FIL1H C Interleukin 36, beta 605508 R, REc
2.503 9 1 11 2q14.1 IL36G, IL1F9, IL1H1, IL1RP2 C Interleukin 36, gamma 605542 REc, R
2.504 7 12 17 2q13 MIR4435-2HG, MORRBID P MIR4435-2 host gene (long noncoding RNA MORRBID) 617144 REc
2.505 6 16 99 2q11.2 NPAS2, MOP4 P Neuronal PAS domain protein 2 603347 R, Psh 1(Npas2)
2.506 6 16 04 2q13 NPHP1, NPH1, SLSN1, JBTS4 C Nephrocystin 607100 Fd Nephronophthisis 1, juvenile, 256100 (3); Senior-Loken syndrome-1, 266900 (3); Joubert syndrome 4, 609583 (3)
2.507 1 30 12 2q14.1 PSD4, EFA6B, TIC P Pleckstrin and Sec7 domains-containing protein 4 614442 REc
2.508 11 27 00 2q14.1 RABL2A P RAB-like 2A 605412 A
2.509 1 22 08 2q13 SEPT10 P Septin 10 611737 REc pseudogene on 8q22.1-q12
2.510 11 23 16 2q13 TMEM87B P Transmembrane protein 87B 617203 REc
2.511 12 4 03 2q14.1 TTL P Tubulin-tyrosine ligase 608291 REc 2(Ttl)
2.512 3 1 12 2q14.3 PROC, PC, THPH3, THPH4 C Protein C (inactivator of coagulation factors Va and VIIIa) 612283 REa, A Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3); Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
2.513 8 21 07 2q14.1 CBWD2 P Cobalamin synthetase W domain-containing protein 2 611079 REc
2.514 8 21 07 2q14.1 FOXD4L1 P Forkhead box D4-like 1 611084 REc
2.515 3 22 93 2q14.2 EN1 C Engrailed-1 131290 REa 1(En1)
2.516 11 7 17 2q14.3 BIN1, AMPHL, CNM2 P Box-dependent MYC-interacting protein-1 (amphiphysin-like) 601248 Psh, A Centronuclear myopathy 2, 255200 (3) 18(Bin1)
2.517 6 22 14 2q13 BUB1 C Budding uninhibited by benzimidazoles 1, S. cerevisiae, homolog of (mitotic checkpoint gene BUB1) 602452 A, R Colorectal cancer with chromosomal instability, somatic (3) 2(Bub1)
2.518 8 27 09 2q14.2-q14.3 CLASP1, KIAA0622 P CLIP-associated protein 1 605852 R, REc
2.519 5 26 13 2q14.3 CNTNAP5, CASPR5 P Contactin-associated protein-like 5 610519 REc
2.520 1 17 08 2q14.2 EPB41L5, KIAA1548 P Erythrocyte membrane protein band 4.1-like 5 611730 R, REn
2.521 12 10 14 2q14.2 GLI2, HPE9, CJS C GLI-Kruppel family member GLI2 (oncogene GLI2) 165230 REa, A Holoprosencephaly 9, 610829 (3); Culler-Jones syndrome, 615849 (3)
2.522 6 11 98 2q14.1 IL1A C Interleukin-1, alpha 147760 H, REa, A within 430kb of IL1B, IL1RN 2(Il1a)
2.523 5 27 05 2q14.1 IL1B C Interleukin-1, beta 147720 REa, A, H within 430kb of IL1RN, IL1A {Gastric cancer risk after H. pylori infection}, 137215 (3) 2(Il1b)
2.524 7 1 13 2q14.1 IL1F10, IL1HY2 P Interleukin 1 family, member 10 615296 REc
2.525 12 23 05 2q14.2 TFCP2L1, CRTR1, LBP9 P Transcription factor CP2-like 1 609785 R, REc
2.526 6 9 08 2p14 WDR92, LOC116143, MONAD P WD repeat-containing protein 92 610729 R, REc
2.527 11 14 14 2q14.3 GYPC, GE, GPC P Glycophorin C 110750 A {Malaria, resistance to}, 611162 (3); [Blood group, Gerbich], 616089 (3)
2.528 9 14 89 2q14-q21 LCO P Liver cancer oncogene 165320 REa, REb, A ?Hepatocellular carcinoma (1)
2.529 2 10 95 2q14-q21 VIS1, HIS1 P Viral integration site 1 164755 A 2(His1)
2.530 11 9 99 2q14-q22 CMD1H P Cardiomyopathy, dilated, 1H 604288 Fd Cardiomyopathy, dilated, 1H (2)
2.531 4 22 10 2q14.1 ACTR3, ARP3 P Actin-related protein 3 604222 REc
2.532 12 24 08 2q14.1 BMIQ13 P Body mass index quantitative trait locus 13 612459 Fd associated with rs7566605 [Body mass index QTL13] (2)
2.533 6 17 16 2q14.1 CHCHD5, MIC14 P Coiled coil-helix-coiled coil-helix domain-containing protein 5 616978 REc
2.534 12 4 08 2q14.1-q14.2 INSIG2 P Insulin-induced gene 2 608660 REc
2.535 11 8 95 2q14.2 SCTR P Secretin receptor 182098 A
2.536 4 6 11 2q13 MERTK, RP38 C Mer tyrosine kinase protooncogene 604705 A, Fd Retinitis pigmentosa 38, 613862 (3)
2.537 7 9 06 2q14.1 DDX18 P DEAD/H box 18 606355 R, REc
2.538 9 27 17 2q14.1 POLR1B P Polymerase I, RNA, subunit B 602000 REc
2.539 1 28 08 2q12.2 C2orf40, ECRG4 P Esophageal cancer-related gene 4 611752 REc
2.540 11 19 11 2q14.2 C1QL2, CTRP10, C1QTNF10 P Complement component 1, q subcomponent-like 2 614330 REc
2.541 10 1 17 2q14.2 PTPN4, PTPMEG1 P Protein-tyrosine phosphatase, nonreceptor-type, 4 176878 REc
2.542 7 9 09 2q14.1 IL1RN, MVCD4, DIRA C Interleukin-1 receptor antagonist 147679 REa, Fd, A {Gastric cancer risk after H. pylori infection}, 137215 (3); {Microvascular complications of diabetes 4}, 612628 (3); Interleukin 1 receptor antagonist deficiency, 612852 (3)
2.543 11 20 15 2q14.2 RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN P RNA, U4, small nuclear, AT-AC form 601428 REc, Fd Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3); Roifman syndrome, 616651 (3)
2.544 5 24 13 2q14.2 STEAP3, TSAP6, AHMIO2 P Six-transmembrane epithelial antigen of prostate 3 609671 A mutation identified in 1 AHMIO2 family ?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3) 1(Steap3)
2.545 2 24 16 2q14.3 LIMS2, PINCH2, LGMD2W P LIM and senescent cell antigen-like domains 2 607908 REc mutation identified in 1 LGMD2W family Muscular dystrophy, limb-girdle, type 2W, 616827 (3)
2.546 6 27 14 2q14.3 MAP3K2, MEKK2 P Mitogen-activated protein kinase kinase kinase 2 609487 REc, R
2.547 3 6 18 2q14.3 NIFK, MKI67IP, NOPP34 P Nucleolar protein interacting with the FHA domain of MKI67 611970 REc
2.548 9 27 17 2q14.3 POLR2D C Polymerase II, RNA, subunit D 606017 REc, A
2.549 12 28 08 2q14.3 SAP130 P Sin3A-associated protein, 130kD 609697 R, REc
2.550 8 27 09 2q14.3 UGGT1, HUGT1 P UDP-glucose glycoprotein glucosyltransferase 1 605897 REc
2.551 4 27 12 2q14.3-q21.3 DYT21 P Dystonia 21 614588 Fd Dystonia 21 (2)
2.552 4 16 03 2q22.1 CXCR4, D2S201E, NPY3R, WHIMS C Chemokine (C-X-C motif) receptor 4 (neuropeptide Y receptor Y3) 162643 Psh, A WHIM syndrome, 193670 (3); Myelokathexis, isolated (3)
2.553 6 2 15 2q14.3 ERCC3, XPB, TTD2 C Excision-repair cross-complementing rodent repair deficiency, complementation group 3 133510 S, A Xeroderma pigmentosum, group B, 610651 (3); Trichothiodystrophy 2, photosensitive, 616390 (3)
2.554 10 15 98 2q14.3 GPR17 C G protein-coupled receptor-17 603071 REa, A
2.555 10 17 12 2q14.3 HS6ST1, HS6ST, HH15 P Heparan sulfate 6-O-sulfotransferase 1 604846 R, REc {Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3)
2.556 1 23 09 2q21.3 LCT, LAC, LPH C Lactase (lactase-phlorizin hydrolase) 603202 REa, Fd, A, Psh Lactase deficiency, congenital, 223000 (3)
2.557 2 5 09 2q21.3 MCM6 C Minichromosome maintenance deficient (mis5, S. pombe) 6 601806 A mutations in introns 9 and 13 Lactase persistence/nonpersistence, 223100 (3)
2.558 7 1 97 2q21.2-q21.3 MGAT5 P Mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl- glucosaminyltransferase 601774 A
2.559 3 23 09 2q21.3 MIR128-1, MIRN128-1, MIR128A P Micro RNA 128-1 611774 REc
2.560 9 1 15 2q21 NMTC3 P Nonmedullary thyroid carcinoma 3 606240 Fd {Thyroid carcinoma, nonmedullary, 3} (2)
2.561 11 20 98 2q21.2 GPR39 P G protein-coupled receptor-39 602886 A
2.562 3 17 94 2q24.3 SCN7A, SCN6A P Sodium channel, voltage-gated, type VII, alpha polypeptide 182392 Pcm
2.563 9 23 08 2q21.1 ADHD5 P Attention deficit-hyperactivity disorder, susceptibility to, 5 612311 Fd max lod at rs985162 {Attention deficit-hyperactivity disorder, susceptibility to, 5} (2)
2.564 11 16 15 2q21.1 CFC1, CRYPTIC, HTX2 P Cryptic protein 605194 R Heterotaxy, visceral, 2, autosomal, 605376 (3)
2.565 9 7 10 2q21.1 FAM128A, MOZART2A P Family with sequence similarity 128, member A 613449 REc
2.566 9 7 10 2q21.1 FAM128B, MOZART2B P Family with sequence similarity 128, member B 613450 REc
2.567 9 2 09 2q21.1 IMP4, BXDC4 P Imp4, S. cerevisiae, homolog of 612981 REc
2.568 12 27 01 2q14.3 MYO7B P Myosin VIIb 606541 R, A 18(Myo7b)
2.569 6 7 10 2q21.1 POTEE, POTE2 C POTE ankyrin domain family, member E 608914 REc, A 5 POTE2 genes within 2Mb segment
2.570 8 18 12 2q21.1 POTEKP, ACT, ACTBL3, POTEK, FKSG30 P POTE ankyrin domain family, member K, pseudogene 611266 REc
2.571 8 27 09 2q21.1 PTPN18, BDP1 P Protein-tyrosine phosphatase, nonreceptor-type, 18 606587 R, REc
2.572 3 2 01 2q14.3 TSN P Translin 600575 REa, A
2.573 7 22 09 2q21.1 RAB6C, WTH3 P Ras-associated protein RAB6C 612909 REc
2.574 5 24 13 2q21.1 SMPD4, NSMASE3, KIAA1418 P Sphingomyelin phosphodiesterase 4, neutral membrane 610457 REc
2.575 4 6 18 2q21.1 TUBA3D, KTCN9 P Tubulin, alpha-3D 617878 REc Keratoconus 9, 617928 (3)
2.576 12 4 03 2q21.1-q22 CHDS2 P Coronary heart disease, susceptibility to, 2 608316 Fd {Coronary heart disease, susceptibility to, 2} (2)
2.577 2 26 16 2q21.1 CCDC115, CCP1, CDG2O P Coiled-coil domain-containing protein 115 613734 REc Congenital disorder of glycosylation, type IIo, 616828 (3) 1(Ccdc115)
2.578 5 24 13 2q21.2 LYPD1, PHTS P LY6/PLAUR domain-containing protein 1 610450 REc
2.579 3 14 13 2q21.2 NCKAP5, NAP5 P NCK-associated protein 5 608789 REc
2.580 12 22 17 2q21.3 DARS, HBSL, HBSL P Aspartyl tRNA synthetase 603084 REc Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)
2.581 3 22 06 2q21.3 RAB3GAP1, WARBM1, P130 P RAB3 GTPase-activating protein, catalytic subunit 602536 REc Warburg micro syndrome 1, 600118 (3)
2.582 5 19 16 2q21.3 ZRANB3 P Zinc finger RANBP2-type domain-containing protein 3 615655 REc
2.583 5 29 15 2q21.3 UBXN4, UBXD2, KIAA2042, ERASIN P UBX domain protein 4 611216 REc, R
2.584 6 30 08 2q21.1 ARHGEF4, ASEF P RHO guanine nucleotide exchange factor 4 605216 A
2.585 7 3 06 2q22.3 GTDC1 P Glycosyltransferase-like domain containing 1 610165 REc
2.586 1 13 16 2q22.1 HNMT, MRT51 P Histamine N-methyltransferase 605238 A, REc {Asthma, susceptibility to}, 600807 (3); Mental retardation, autosomal recessive 51, 616739 (3)
2.587 6 4 98 2q23.3 NEB, NEM2 C Nebulin 161650 REa, Ch, A, R, Fd Nemaline myopathy 2, autosomal recessive, 256030 (3) 2(Neb)
2.588 4 19 07 2q22.3 ZEB2, ZFHX1B, SMADIP1, SIP1 C Zinc finger E box-binding homeobox 2 605802 Ch Mowat-Wilson syndrome, 235730 (3)
2.589 11 21 02 2p16.3 KCNK12, THIK2 P Potassium channel, subfamily K, member 12 607366 REc
2.590 4 6 11 2q23.3 CACNB4, EJM6, EA5, EIG9 C Calcium channel, voltage-dependent, beta 4 subunit 601949 A, Psh, R {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3); {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3); Episodic ataxia, type 5, 613855 (3) 2(Cacnb4)
2.591 11 16 10 2q24.1 NR4A2, NURR1, NOT, TINUR P Nuclear receptor subfamily 4, group A, member 2 601828 A, REa 2(Nurr1)
2.592 3 15 11 2q23.1 ORC4, ORC4L P Origin recognition complex, subunit 4, S. cerevisiae, homolog of 603056 A, REa Meier-Gorlin syndrome 2, 613800 (3)
2.593 8 27 09 2q24.3 GRB14 P Growth factor receptor-bound protein 14 601524 REc
2.594 5 2 08 2q22-q24 MAFD5 P Major affective disorder 5 611535 Fd {Major affective disorder 5} (2)
2.595 7 18 14 2q22.1 NXPH2, NPH2 P Neuroxophilin 2 604635 REc
2.596 9 21 17 2q22.2 KYNU, KYNUU, VCRL2 P Kynureninase 605197 REc mutation identified in 1 KYNUU family ?Hydroxykynureninuria, 236800 (3); Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3)
2.597 1 24 09 2q22.3-q23.1 ACVR2A, ACVR2 P Activin A receptor, type IIA 102581 A
2.598 5 26 13 2q22.2-q22.3 ARHGAP15, BM046 P Rho GTPase-activating protein 15 610578 R, REc
2.599 3 27 12 2q31.1 DCAF17, C20orf37 P DDB1- and CUL4-associated factor 17 612515 REc Woodhouse-Sakati syndrome, 241080 (3)
2.600 1 1 95 2q24.2 DPP4, CD26, ADCP2 C Dipeptidylpeptidase IV (CD26; adenosine deaminase complexing protein-2) 102720 S, REa, A
2.601 8 18 98 2q24.2 FAP, FAPA P Fibroblast activation protein, alpha subunit 600403 REa, A
2.602 8 1 08 2q23.3 RPRM P Reprimo 612171 A
2.603 5 2 06 2q24.1 ACVR1, ACVRLK2, ALK2, FOP C Activin A receptor, type I 102576 REa, A Fibrodysplasia ossificans progressiva, 135100 (3)
2.604 2 28 01 2q24.2 BAZ2B P Bromodomain adjacent to zinc finger domain, 2B 605683 REa, R
2.605 5 25 00 2q24.2 PLA2R1, PLA2R P Phospholipase A2 receptor 1 604939 A
2.606 10 31 08 2q23.3 ARL5 P ADP-ribosylation factor-like 5 608960 R
2.607 2 11 11 2q24.3 SCN2A, SCN2A1, BFIC3, EIEE11, BFIS3, BFNIS C Sodium channel, voltage-gated, type II, alpha subunit 182390 REa, Pcm, A 4 related genes on chr.2 Seizures, benign familial infantile, 3, 607745 (3); Epileptic encephalopathy, early infantile, 11, 613721 (3) 2(Scn2a)
2.608 1 17 01 2q24.2 SLC4A10 C Solute carrier family 4 (sodium bicarbonate cotransporter-like), member 10 605556 A, REa, R
2.609 8 9 99 2q23-q24.3 DFNA16 P Deafness, autosomal dominant 16 603964 Fd Deafness, autosomal dominant 16 (2)
2.610 3 8 00 2q24.2 TBR1 L T-box, brain, 1 604616 H 2(Tbr1)
2.611 4 6 01 2q23-q31 DFNB27 P Deafness, autosomal recessive 27 605818 Fd Deafness, autosomal recessive 27 (2)
2.612 11 29 99 2q24.1 PKP4 P Plakophilin-4 604276 A, REa
2.613 8 20 07 2q23.1 EPC2 P Enhancer of polycomb, Drosophila, homolog of, 2 611000 R, REc
2.614 8 1 14 2q23.1-q23.2 KIF5C, NKHC2, CDCBM2 P Kinesin family member 5C 604593 R, REc Cortical dysplasia, complex, with other brain malformations 2, 615282 (3)
2.615 10 15 07 2q23.1 MBD5, KIAA1461, MRD1 P Methyl-CpG-binding domain protein 5 611472 R, REc Mental retardation, autosomal dominant 1, 156200 (3)
2.616 4 20 10 2q23.2 LYPD6 P LY6/PLAUR domain-containing protein 6 613359 REc
2.617 4 8 08 2q23.2 C2orf25, MMADHC P Chromosome 2 open reading frame 25 611935 REc Homocystinuria, cblD type, variant 1, 277410 (3); Methylmalonic aciduria, cblD type, variant 2, 277410 (3); Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
2.618 7 29 15 2q23.3 ARL6IP6, AIP6 P ADP-ribosylation factor-like 6-interacting protein 6 616495 REc
2.619 3 31 15 2q23.3 FMNL2, KIAA1902 P Formin-like 2 616285 REc
2.620 6 29 99 2q23.3 NMI P NMYC interactor 603525 A previously assigned to 22q13.3
2.621 8 17 09 2q23.3 PRPF40A, HYPA, FNBP3, FBP11 P Precursor mRNA-processing factor 40, S. cerevisiae, homolog of, A 612941 REc
2.622 8 3 12 2q23.3 RND3, RHOE, ARHE P RHO family GTPase 3 602924 REc, R
2.623 7 9 06 2q23.3 STAM2 P Signal-transducing adaptor molecule 2 606244 R, REc
2.624 8 27 09 2q23.3 TNFAIP6 C Tumor necrosis factor, alpha-induced protein-6 600410 Psh, REc
2.625 1 20 09 2q31.1 ABCB11, BSEP, SPGP, PFIC2, BRIC2 C ATP-binding cassette, subfamily B, member 11 (bile salt export pump) 603201 Fd, LD, REc Cholestasis, progressive familial intrahepatic 2, 601847 (3); Cholestasis, benign recurrent intrahepatic, 2, 605479 (3)
2.626 9 22 08 2q24.2 CD302, DCL1, KIAA0022 C CD302 antigen 612246 R, REc
2.627 8 19 13 2q24.3 COBLL1, COBLR1, KIAA0977 P COBL-like protein 1 610318 REc 2(Cobll1)
2.628 4 7 15 2q24.2 IFIH1, MDA5, AGS7, SGMRT1 C Interferon induced with helicase C domain 1 606951 REc Aicardi-Goutieres syndrome 7, 615846 (3); Singleton-Merten syndrome 1, 182250 (3)
2.629 2 27 17 2q24.3 SCN1A, GEFSP2, SMEI, FEB3A, EIEE6, FHM3 C Sodium channel, voltage-gated, type I, alpha polypeptide 182389 REA, A, FD Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3); Migraine, familial hemiplegic, 3, 609634 (3); Febrile seizures, familial, 3A, 604403 (3); Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3) 2(Scn1a)
2.630 6 7 94 2q24.3 SCN3A C Sodium channel, voltage-gated, type III, alpha polypeptide 182391 H, Psh, A 2(Scn3a)
2.631 12 30 14 2q24.3 SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP, HSAN2D C Sodium channel, voltage-gated, type IX, alpha subunit 603415 REc, Fd Erythermalgia, primary, 133020 (3); Paroxysmal extreme pain disorder, 167400, (3); Insensitivity to pain, congenital, 243000 (3); Febrile seizures, familial, 3B, 613863 (3); Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3); Small fiber neuropathy, 133020 (3); {Dravet syndrome, modifier of}, 607208 (3); HSAN2D, autosomal recessive, 243000 (3)
2.632 8 2 16 2q31.1 SLC25A12, ARALAR, EIEE39 C Solute carrier family 25 (mitochondrial carrier, Aralar), member 12 603667 A, REa, R, REc Epileptic encephalopathy, early infantile, 39, 612949 (3)
2.633 11 17 10 2q24.3 GALNT3, HHS, HFTC P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 601756 A Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)
2.634 8 21 07 2q31.1 LRP2, DBS C Low density lipoprotein-related protein 2 600073 A Donnai-Barrow syndrome, 222448 (3)
2.635 4 30 15 2q31.1 CHRNA1, ACHRD, CMS1B, CMS1A C Cholinergic receptor, nicotinic, alpha polypeptide-1, muscle 100690 REa, A Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3); Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3); Multiple pterygium syndrome, lethal type, 253290 (3) 2(Acra)
2.636 7 8 10 2q24-q32 FGQTL1 P Fasting plasma glucose level QTL 1 612108 Fd associated with rs560887 [Fasting plasma glucose level QTL 1] (2)
2.637 7 8 10 2q31.1 G6PC2, IGRP C Glucose-6-phosphatase, catalytic, 2 608058 REc, R, H 2(Igrp)
2.638 6 15 99 2q24-q32 MMDK, MDK P Mesomelic dysplasia, Kantaputra type 156232 Fd Mesomelic dysplasia, Kantaputra type (2)
2.639 1 11 95 2q37.1 NPPC L Natriuretic peptide precursor C 600296 H 1(Nppc)
2.640 4 22 10 2q24.1 ACVR1C, ALK7 P Activin A receptor, type IC 608981 A
2.641 8 19 13 2q24.1 ERMN, JN, KIAA1189 P Ermin 610072 R, REc
2.642 1 27 04 2q23.3-q24.1 GALNT13, KIAA1918 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 608369 R, REc
2.643 3 27 09 2q24.1 GPD2 C Glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 138430 A, Psh, REc pseudogene on 19 {Diabetes, type 2, susceptibility to}, 125853 (3)
2.644 12 2 96 2q24.1 KCNJ3, GIRK1 P Potassium inwardly-rectifying channel, subfamily J, member 3 601534 REa, A, Fd
2.645 5 8 09 2q24.1 SYNSTH P Synesthesia 612759 Fd max lod at D2S142 Synesthesia (2)
2.646 2 9 17 2q24.1 UPP2 P Uridine phosphorylase 2 617340 REc
2.647 4 22 10 2q24.1-q31.1 INTLQ2 P Intelligence quantitative trait locus 3 610295 Fd {Intelligence QTL3} (2)
2.648 4 6 13 2q24.1 GALNT5, GALNACT5 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 615129 REc
2.649 8 27 09 2q24.2 GCA P Grancalcin 607030 R, REc
2.650 2 12 15 2q24.2 ITGB6, AI1H P Integrin, beta-6 147558 REa, REc Amelogenesis imperfecta, type IH, 616221 (3)
2.651 3 6 08 2q24.2 KCNH7, ERG3, HERG3, Kv11.3 P Potassium channel, voltage-gated, subfamily H, member 7 608169 R, REc
2.652 6 7 10 2q24.2 MARCH7 P Membrane-associated RING-CH finger protein 7 613334 REc
2.653 8 27 09 2q24.2 PSMD14, POH1, PAD1 P Proteasome 26S subunit, non-ATPase, 14 607173 R, REc
2.654 3 29 16 2q24.2 RBMS1, MSSP, SCR2 P RNA-binding motif protein, single strand-interacting, 1 602310 REc
2.655 4 2 16 2q24.2 TANC1, KIAA1728 P Tetratricopeptide repeat-, ankyrin repeat-, and coiled-coil-containing protein 1 611397 REc
2.656 3 18 13 2q24.2 TANK, ITRAF P TRAF family member-associated NF-Kappa-B activator 603893 REc
2.657 11 11 14 2q24.3 B3GALT1 P UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase, polypeptide 1 603093 REc
2.658 8 2 13 2q24.3 CERS6, LASS6 P Ceramide synthase 6 615336 REc
2.659 12 23 05 2q24.3 CMYA3, XIRP2 P Cardiomyopathy-associated protein 3 609778 R, REc
2.660 2 18 09 2q24.3 IDDM19 P Diabetes mellitus, insulin-dependent, 19 610155 Fd associated with rs1990760 {Diabetes mellitus, insulin-dependent, 19} (2)
2.661 8 26 15 2q24.3 SLC38A11 P Solute carrier family 38 (amino acid transporter), member 11 616526 REc
2.662 8 27 09 2q24.3 STK39, SPAK P Serine/threonine protein kinase 39 607648 R, REc
2.663 2 11 14 2q24.3 TTC21B, THM1, NPHP12, SRTD4, ATD4 P Tetratricopeptide repeat domain 21B 612014 REc Nephronophthisis 12, 613820 (3); Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)
2.664 1 11 16 2q31.2 AGPS, ADHAPS, RCDP3 P Alkylglycerone-phosphate synthase 603051 A Rhizomelic chondrodysplasia punctata, type 3, 600121 (3) 2(Agps)
2.665 10 16 14 2q31.1 BBS5 C BBS gene 5 603650 REc, Fd Bardet-Biedl syndrome 5, 615983 (3)
2.666 10 12 14 2q31.2 CCDC141, CAMDI P Coiled-coil domain-containing protein 141 616031 REc
2.667 4 21 16 2q31.1 CDCA7, JPO1, ICF3 P Cell division cycle-associated 7 609937 A Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910 (3)
2.668 8 17 15 2q31.1 GAD1, SCP, CPSQ1 C Glutamate decarboxylase-1, brain, 67kD 605363 REa, H, A, Psh, Fd, LD mutation identified in 1 CPSQ1 family ?Cerebral palsy, spastic quadriplegic, 1, 603513 (3) 2(Gad1)
2.669 12 9 98 2q31 IDDM7 P Insulin-dependent diabetes mellitus-7 600321 H, Fd {Diabetes mellitus, insulin-dependent, 7} (2)
2.670 1 24 01 2q32.1 ITGAV, VNRA C Integrin, alpha-V (vitronectin receptor, alpha polypeptide) 193210 REa, A, REc
2.671 5 14 08 2q31.1 LNP, KIAA1715 P Lunapark 610236 REc, H 2(Lnp)
2.672 3 23 09 2q31.1 MIR10B, MIRN10B P Micro RNA 10B 611576 REc
2.673 1 7 02 2q33.1 MPP4, DLG6 P Membrane protein, palmitoylated 4 606575 REc
2.674 10 30 17 2q31.2 NFE2L2, NRF2, IMDDHH P Nuclear factor, erythroid-derived 2-like 2 600492 A Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 (3)
2.675 10 28 08 2q31 PNKD2 P Paroxysmal nonkinesigenic dyskinesia 2 611147 Fd between D2S2188 and D2S364 Paroxysmal nonkinesigenic dyskinesia 2 (2)
2.676 12 9 09 2q31 SHFM5 P Split-hand/foot malformation 5 606708 Fd between EVX2 and D2S294 Split-hand/foot malformation 5 (2)
2.677 7 1 97 2q31.1 SP3 P Sp3 transcription factor 601804 Psh, A
2.678 6 12 17 2q31.2 TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, SALMY C Titin 188840 REa, R Cardiomyopathy, familial hypertrophic, 9, 613765 (3); Cardiomyopathy, dilated, 1G, 604145 (3); Tibial muscular dystrophy, tardive, 600334 (3); Muscular dystrophy, limb-girdle, type 2J, 608807 (3); Myopathy, proximal, with early respiratory muscle involvement, 603689 (3); Salih myopathy, 611705 (3) 2(Ttn)
2.679 4 17 01 2q32.1 CALCRL, CGRPR, CRLR P Calcitonin receptor-like 114190 R
2.680 1 4 93 2q31.1 EVX2 P Even-skipped homeo box-2 142991 REn 13kb 5' to HOX4I 2(Evx2)
2.681 2 26 93 2q31.1 HOXD3, HOX4A C Homeo box-D3 142980 RE 2(Hox4.1)
2.682 4 1 14 2q31.1 HOXD4, HOX4B C Homeo box-D4 142981 A, RE 2(Hox4.2)
2.683 2 26 93 2q31.1 HOXD9, HOX4C C Homeo box-D9 142982 RE 2(Hox4.3)
2.684 7 19 04 2q31.1 HOXD10, HOX4D C Homeo box-D10 142984 REa, RE Vertical talus, congenital, 192950 (3); Charcot-Marie-Tooth disease, foot deformity of, 192950 (3) 2(Hox4.4)
2.685 2 26 93 2q31.1 HOXD8, HOX4E C Homeo box-D8 142985 RE 2(Hox4.5)
2.686 2 26 93 2q31.1 HOXD11, HOX4F C Homeo box-D11 142986 RE 2(Hox4.6)
2.687 2 26 93 2q31.1 HOXD1, HOX4G C Homeo box-D1 142987 RE 2(Hox4.7)
2.688 2 26 93 2q31.1 HOXD12, HOX4H P Homeo box-D12 142988 REc upstream from HOX4A-G 2(Hox4.8)
2.689 5 9 16 2q31.1 HOXD13, HOX4I, SPD1, BDSD C Homeo box-D13 142989 REc, Fd mutation identified in 1 BDSD family Synpolydactyly 1, 186000 (3); Brachydactyly, type E, 113300 (3); Brachydactyly, type D, 113200 (3); Syndactyly, type V, 186300 (3); ?Brachydactyly-syndactyly syndrome, 610713 (3) 2(Hox4.9)
2.690 7 16 92 2q31.3 ITGA4, CD49D C Integrin, alpha-4 (antigen CD49D, alpha-4 subunit of VLA-4 receptor) 192975 Psh, A
2.691 9 23 08 2q31.1 CHN1, CHN, ARHGAP2, RHOGAP2, DURS2 C Chimerin 1 (GTPase-activating protein, rho, 2) 118423 REa, A, Fd Duane retraction syndrome 2, 604356 (3)
2.692 12 30 92 2q32.1 TFPI, LACI C Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 152310 REa, A
2.693 4 15 09 2q32.1 FRZB, FRZB1, SRFP3, OS1 P Frizzled-related protein 605083 REc {Osteoarthritis susceptibility 1}, 165720 (3)
2.694 11 19 11 2q32.2 PMS1, PMSL1, HNPCC3 P Postmeiotic segregation increased, S. cerevisiae, like 1 600258 REa, A
2.695 9 22 08 2q31.1 ATP5G3 P ATP synthase, mitochondrial, C subunit-3 602736 REa, REc
2.696 9 10 12 2q31.1 CIR1 P CBF1-interacting corepressor 605228 REc
2.697 8 18 08 2q31.1 DHRS9, RDHTBE P Short-chain dehydrogenase/reductase family, member 9 612131 REc
2.698 1 5 11 2q31.1 DUP2q31.1, C2DUPq31.1 P Chromosome 2q31.1 duplication syndrome 613681 Ch duplication of 9 HOXD genes and MTX2 Chromosome 2q31.1 duplication syndrome (4)
2.699 2 21 06 2q31.1 DYNC1I2, DNCI2, IC2 P Dynein, cytoplasmic-1, intermediate chain-2 603331 REc, H 2(Dnci2)
2.700 1 10 09 2q31.1 ITGA6 P Integrin, alpha-6 147556 REa, REc Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
2.701 4 10 14 2q31.1 KLHL41, KBTBD10, SARCOSIN, NEM9 P Kelch-like family member 41 607701 R, REc Nemaline myopathy 9, 615731 (3)
2.702 8 3 12 2q31.1 METAP1D, MAP1D P Methionyl aminopeptidase type 1D (mitochondrial) 610267 REc
2.703 4 17 12 2q31.1 MTX2 P Metaxin 2 608555 REc
2.704 3 3 03 2q24.3 NOSTRIN P Nitric oxide synthase trafficker 607496 REc
2.705 8 30 11 2q31.1 OLA1, GTBP9 P OBG-like ATPase 1 611175 REc
2.706 9 9 13 2q31.1 PDK1 P Pyruvate dehydrogenase kinase, isoenzyme 1 602524 REc
2.707 8 27 09 2q31.1 PPIG P Peptidyl-prolyl isomerase G (cyclophilin G) 606093 R, REc
2.708 12 17 12 2q31.1 SCRN3, SES3 P Secernin 3 614967 REc
2.709 12 6 16 2q31.1 SP5 P Transcription factor Sp5 609391 REc 2(Sp5)
2.710 7 14 14 2q24.3 SPC25, SPBC25 P SPC25, NDC80 kinetochore complex component 609395 REc
2.711 4 28 10 2q31.1 SSB, LARP3 P Sjogren syndrome antigen B 109090 A, Psh, REc
2.712 3 31 11 2q31.1 UBR3 P Ubiquitin protein ligase E3 component N-recognin 3 613831 REc 3(Ubr3)
2.713 2 9 15 2q31.1 WIPF1, WASPIP, WIP, WAS2 P WAS/WASL-interacting protein family, member 1 602357 REc mutation identified in 1 WAS2 patient ?Wiskott-Aldrich syndrome 2, 614493 (3)
2.714 11 7 17 2q31.1 ZAK, MLTK, MRK, SFMMP, CNM6 P Leucine zipper- and sterile alpha motif-containing kinase 609479 R, REc Split-foot malformation with mesoaxial polydactyly, 616890 (3); Centronuclear myopathy 6 with fiber-type disproportion, 617760 (3)
2.715 4 24 06 2q31.1 MYO3B P Myosin IIIB 610040 REc
2.716 6 30 06 2q31.2 PJVK, DFNB59 P Pejvakin 610219 Fd Deafness, autosomal recessive 59, 610220 (3)
2.717 11 11 14 2q31.2 FKBP7, FKBP23 P FK506-binding protein 7 607062 REc
2.718 2 1 11 2q31.2 HNRPA3, D10S102, FBRNP P Heterogeneous nuclear ribonucleoprotein A3 605372 REc, REn
2.719 3 8 07 2q31.2 PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2 P Phosphodiesterase 11A 604961 REc, Fd Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
2.720 3 18 08 2q31.2 PLEKHA3, FAPP1 P Pleckstrin homology domain-containing protein, family A, member 3 607774 REc
2.721 10 4 16 2q31.2 RBM45 P RNA binding motif protein 45 608888 REc
2.722 10 27 08 2q31.2-q31.3 ZNF385B, ZFN533 P Zinc finger protein 385B 612344 REc
2.723 10 27 08 2q31.2 DEL2q31 P Chromosome 2q31.2 deletion syndrome 612345 Ch contiguous gene deletion syndrome Chromosome 2q31.2 deletion syndrome (4)
2.724 11 4 98 2q31.1 HAT1 P Histone acetyltransferase-1 603053 TM
2.725 2 27 13 2q31.3 CERKL, RP26 P Ceramide kinase-like 608381 REc Retinitis pigmentosa 26, 608380 (3)
2.726 5 6 13 2q31.3 CWC2, KIAA1604, NCM P CWC22 spliceosome-associated protein, X. cerevisiae, homolog of 615186 REc
2.727 6 17 17 2q31.1 FASTKD1, KIAA1800 P Fast kinase domains 1 617529 REc
2.728 2 21 12 2q31.3 MIR1258 C Micro RNA 1258 614488 REc on opposite strand from ZNF385B
2.729 2 24 12 2q33.1 NDUFB3 P NADH-ubiquinone oxidoreductase 1 beta subcomplex, 3 603839 R pseudogenes on chr. 1, 9, and 14 Mitochondrial complex I deficiency, 252010 (3)
2.730 6 24 08 2q31.2 PRKRA, PACT, RAX, DYT16 C Protein kinase, interferon-inducible double-stranded RNA-dependent activator 603424 REc Dystonia 16, 612067 (3)
2.731 12 27 13 2q31.3 SCHLAP1, PCAT114, LINC00913 P SWI/SNF complex antagonist associated with prostate cancer 1, noncoding 615568 REc
2.732 8 8 13 2q31.3 SSFA2, CS1 P Sperm-specific antigen 2 118990 REc
2.733 1 16 14 2q31.3-q32.1 DA10 P Arthrogryposis, distal, type 10 187370 Fd max lod at D2S364 Arthrogryposis, distal, type 10 (2)
2.734 11 7 01 2q31.1 ATF2, CREB2 C Activating transcription factor 2 123811 REa, A
2.735 1 8 95 2q31.1 DLX1 P Distal-less homeo box-1 600029 REa, A, H
2.736 1 8 95 2q31.1 DLX2, TES1 C Distal-less homeo box-2 126255 REa, A 2(Dlx2)
2.737 1 15 96 2q32.2 INPP1 P Inositol polyphosphate-1-phosphatase 147263 Psh, A 1(Inpp1)
2.738 5 11 00 2q33.3 KLF7, UKLF P Kruppel-like factor 7 604865 A
2.739 8 27 09 2q32.3 MYO1B P Myosin IB 606537 R, REc
2.740 11 4 99 2q31.3 NEUROD1, NIDDM C Neurogenic differentiation 1 601724 A {Diabetes mellitus, noninsulin-dependent}, 125853 (3); Maturity-onset diabetes of the young 6, 606394 (3) 2(Neurod)
2.741 11 30 00 2q32.3 PCGEM1 P Prostate-specific gene PCGEM1 605443 A
2.742 3 17 03 2q32.2 SLC40A1, SLC11A3, FPN1, IREG1, HFE4 C Solute carrier family 40 (iron-regulated transporter), member 1 604653 A Hemochromatosis, type 4, 606069 (3) 1(Slc11a3)
2.743 9 22 17 2q32.3 CAVIN2, SDPR, SDR P Caveolae-associated protein 2 606728 A
2.744 5 29 01 2q32.3 TMEFF2, HPP1, TR P Transmembrane protein with EGF-like and 2 follistatin-like domains 2 605734 A
2.745 1 11 89 2q34 RPE C Ribulose 5-phosphate 3-epimerase 180480 S, D
2.746 8 8 91 2q32.2 GLS, GLS1 P Glutaminase 138280 REa, A 1(Gls)
2.747 6 22 14 2q32.1 FSIP2 P Fibrous sheath-interacting protein 2 615796
2.748 12 5 03 2q32.1 NUP35, NP44 P Nucleoporin, 35kD 608140 R, REc
2.749 5 7 03 2q31.2 OSBPL6, ORP6 C Oxysterol-binding protein-like protein 6 606734 REc
2.750 8 30 09 2q32.1 PDE1A P Phosphodiesterase-1A 171890 REc
2.751 2 21 10 2q31.3-q32.1 PPP1R1C, IPP5 P Protein phosphatase 1, regulatory subunit 1C 613240 REc
2.752 9 10 09 2q32.1 SCZD14 P Schizophrenia 14 612361 Fd associated with rs1344706 {Schizophrenia, susceptibility to, 14} (2)
2.753 10 19 99 2q31.3 UBE2E3, UBCH9 C Ubiquitin-conjugating enzyme E2E 3 604151 A, REa, R
2.754 9 23 08 2q32.1 ZNF804A, C2orf10 P Zinc finger protein 804A 612282 REc
2.755 5 11 00 2q32.1 NCKAP1, NAP1 C NCK-associated protein 1 604891 REa, A
2.756 10 27 97 2q32.1-q32.3 ARVD4 P Arrhythmogenic right ventricular dysplasia 4 602087 Fd Arrhythmogenic right ventricular dysplasia 4 (2)
2.757 4 10 90 2q34 MYL1 C Myosin, light polypeptide-1, alkali; skeletal, fast 160780 REa, H 1(Mylt)
2.758 3 15 13 2q32.2 C2orf88, SMAKAP P Small membrane protein kinase A-anchoring protein 615117 REc
2.759 12 22 17 2q32.2 COL3A1, EDSVASC C Collagen III, alpha-1 polypeptide 120180 REa, A in same 35kb segment as COL5A2 Ehlers-Danlos syndrome, vascular type, 130050 (3) 1(Col3a1)
2.760 12 22 17 2q32.2 COL5A2, EDSCL2 C Collagen V, alpha-2 polypeptide 120190 REa, A very close to COL3A1 Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
2.761 12 23 05 2q32.2 FLJ25415 P FLJ25415 gene 609803 REc
2.762 8 13 11 2q32.2 GDF8, MSTN, MSLHP P Growth differentiation factor-8 (myostatin) 601788 H, R Muscle hypertrophy, 614160 (3) 1(Cmpt, Gdf8)
2.763 1 8 07 2q32.2 HIBCH P 3-hydroxyisobutyryl-CoA hydrolase 610690 REc 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
2.764 9 29 10 2q32.2 MFSD6, MMR2 P Major facilitator superfamily domain-containing protein 6 613476 REc
2.765 8 26 15 2q32.2 NEMP2, TMEM194B P Nuclear envelope integral membrane protein 2 616497 REc
2.766 4 7 10 2q32.2 ORMDL1 P ORM1-like protein 1 610073 REc pseudogene on 10p14
2.767 1 29 07 2q33.1 SUMO1, UBL1, SMT3, OFC10 C Small ubiquitin-like modifier 1 601912 A, Ch mutation identified in 1 OFC10 patient ?Orofacial cleft 10, 613705 (3) 1(Sumo1)
2.768 12 26 14 2q32.2 STAT1, CANDF7, IMD31A, IMD31B, IMD31C P Signal transducer and activator of transcription-1 600555 A Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3); Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3); Immunodeficiency 31C, autosomal dominant, 614162 (3) 1(Stat1)
2.769 7 18 12 2q32.2-q32.3 STAT4, SLEB11 P Signal transducer and activator of transcription-4 600558 A {Systemic lupus erythematosus, susceptibility to, 11}, 612253 (3) 1(Stat4)
2.770 2 3 06 2q32.1-q32.2 GULP1, CED6 P PTB domain-containing engulfment adaptor protein 1 608165 REc
2.771 12 22 16 2q32.3 HECW2, NEDL2, KIAA1301, NDHSAL P HECT, C2, and WW domains-containing E3 ubiquitin-protein ligase 2 617245 REc, Psh Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 (3)
2.772 6 26 08 2q32.3 OBFC2A, SSB2 P Oligonucleotide/oligosaccharide-binding fold-containing protein 2A 612103 REc
2.773 5 4 12 2q32.3 STK17B, DRAK2 P Serine/threonine protein kinase 17b 604727 REc
2.774 4 23 98 2q32.2 NAB1 P NGFI-A-binding protein, ERG1-binding protein 600800 A 1(Nab1)
2.775 7 10 08 2q33.3 CREB1 C cAMP-response element-binding protein-1 123810 REa, A fusion gene with EWSR1 Histiocytoma, angiomatoid fibrous, somatic, 612160 (3) 1(Creb1)
2.776 7 1 02 2q33.3 ADAM23, MDC3 P A disintegrin and metalloproteinase domain 23 603710 R
2.777 9 21 12 2q33.1 ALS2, ALSJ, PLSJ, IAHSP C Alsin 606352 Fd, REc Amyotrophic lateral sclerosis 2, juvenile, 205100 (3); Primary lateral sclerosis, juvenile, 606353 (3); Spastic paralysis, infantile onset ascending, 607225 (3)
2.778 2 27 03 2q33.2 ALS2CR8, CARF P Amyotrophic lateral sclerosis 2 chromosome region, candidate 8 (calcium response factor) 607586 REc
2.779 7 14 98 2q33.1 AOX1 C Aldehyde oxidase-1 602841 Psh, A
2.780 4 8 13 2q35 BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1 C bcs1, S. cerevisiae, homolog-like 603647 REc, Fd, LD Mitochondrial complex III deficiency, nuclear type 1, 124000 (3); Leigh syndrome, 256000 (3); Bjornstad syndrome, 262000 (3); GRACILE syndrome, 603358 (3)
2.781 2 13 14 2q33.1-q33.2 BMPR2, PPH1, POVD1 C Bone morphogenetic receptor, type II 600799 Fd Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3); Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3); Pulmonary venoocclusive disease 1, 265450 (3)
2.782 7 26 10 2q33.1 BOLL, BOULE P BOL-like (Boule, Drosophila, homolog of) 606165 R, A, H 1(Boule)
2.783 11 18 14 2q33.1 CASP8, MCH5, ALPS2B C Caspase 8, apoptosis-related cysteine protease 601763 A mutation identified in 1 ALPS2B family ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3); Hepatocellular carcinoma, somatic, 114550 (3); {Breast cancer, protection against}, 114480 (3); {Lung cancer, protection against}, 211980 (3) 1(Casp8)
2.784 12 7 07 2q33.1 CFLAR, FLIP, CASPER, FLAME1, CASH P CASP8- and FADD-like apoptosis regulator 603599 A, R
2.785 8 16 99 2q33.1 CLK1, CLK, STY P CDC-like kinase 1 601951 A
2.786 7 24 15 2q33.2 CTLA4, IDDM12, CELIAC3, ALPS5 C Cytotoxic T-lymphocyte-associated serine esterase-4 123890 A, REn {Hashimoto thyroiditis}, 140300 (3); {Systemic lupus erythematosus, susceptibility to}, 152700 (3); {Diabetes mellitus, insulin-dependent, 12}, 601388 (3); {Celiac disease, susceptibility to, 3}, 609755 (3); Autoimmune lymphoproliferative syndrome, type V, 616100 (3) 1(Ctla4)
2.787 11 6 01 2q32.2 DIRC1 P Disrupted in renal cancer 1 606423 REc
2.788 1 12 99 2q33.1 FZD7 P Frizzled, Drosophila, homolog of, 7 603410 A
2.789 1 30 01 2q33.2 ICOS, AILIM, CVID1 P Inducible costimulator 604558 R Immunodeficiency, common variable, 1, 607594 (3)
2.790 4 19 01 2q33.1 NIF3L1 P Ngg1 interacting factor 3, S. pombe, homolog of, like 1 605778 REc 1(Nif3l1)
2.791 4 9 96 2q33.1 ORC2, ORC2L P Origin recognition complex, subunit 2, S. cerevisiae, homolog of 601182 A
2.792 2 18 02 2q33.1 PLDL1, PLCE, PLCL P Phospholipase C-like 1 600597 RE
2.793 7 14 14 2q33.1 PPIL3 P Peptidyl-prolyl isomerase-like 3 615811 REc
2.794 10 21 96 2q34 PTHR2 P Parathyroid hormone receptor 2 601469 A
2.795 2 28 07 2q33 RLS4 P Restless legs syndrome, susceptibility to, 4 610439 Fd between D2S311 and D2S317 {Restless legs syndrome 4} (2)
2.796 5 27 14 2q33.1 SATB2, KIAA1034, GLSS C Special AT-rich sequence-binding protein 2 608148 REc Glass syndrome, 612313 (3)
2.797 7 21 15 2q33.1 CASP10, MCH4, ALPS2 P Caspase 10, apoptosis-related cysteine protease 601762 Psh, REc, A Autoimmune lymphoproliferative syndrome, type II, 603909 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3); Gastric cancer, somatic, 613659 (3)
2.798 8 24 92 2q33.2 CD28 C CD28 antigen (Tp44) 186760 A, REn 1(Cd28)
2.799 4 30 15 2q37.1 CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C C Cholinergic receptor, nicotinic, delta polypeptide 100720 H, REa, A, LD, RE mutation identified in 1 CMS3A patient and 1 CMS3C family ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3); Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3); ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3); Multiple pterygium syndrome, lethal type, 253290 (3) 1(Acrd)
2.800 4 22 15 2q37.1 CHRNG, ACHRG C Cholinergic receptor, nicotinic, gamma polypeptide 100730 H, REa, LD, RE, Fd tightly linked to CHRND by RE Escobar syndrome, 265000 (3); Multiple pterygium syndrome, lethal type, 253290 (3) 1(Acrg)
2.801 5 14 04 2q33.3 EEF1B2, EEF1B1 P Eukaryotic translation elongation factor-1, beta-2 600655 Psh pseudogene on chr.15
2.802 7 1 97 2q33.3 FZD5 L Polarity gene 'frizzled,' Drosophila, homolog of 601723 H 1(Mfz5)
2.803 12 5 91 2q35 IGFBP2 C Insulin-like growth factor-binding protein-2, 36kD 146731 REa, A 1(Igfbp2)
2.804 1 5 06 2q33.2 NBEAL1, ALS2CR17 P Neurobeachin-like 1 609816 REc
2.805 8 25 04 2q33.3 NDUFS1 P NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kD 157655 A Mitochondrial complex I deficiency, 252010 (3)
2.806 5 19 09 2q33.1 STRADB, ILPIP, ALS2CR2 P STE20-related kinase adaptor beta 607333 REn pseudogenes on chromosomes 1 and 9
2.807 2 28 06 2q33.1 TRAK2, GRIF1, ALS2CR3, KIAA0549, OIP98 C Gamma-aminobutyric acid receptor-interacting factor 1 607334 REn
2.808 5 22 91 2q33-q35 CHE2 P Cholinesterase, serum, 2 177500 F linkage to chr. 16 markers?
2.809 4 4 00 2q33.3 CRYGA, CRYG1 C Crystallin, gamma A 123660 REa, A 1(Cryg1)
2.810 9 12 13 2q33.3 CRYGB, CRYG2, CTRCT39 C Crystallin, gamma B 123670 REa, A Cataract 39, multiple types, autosomal dominant, 615188 (3) 1(Len2)
2.811 5 3 13 2q33.3 CRYGC, CRYG3, CTRCT2, CCL C Crystallin, gamma C 123680 REa, A Cataract 2, multiple types, 604307 (3)
2.812 5 3 13 2q33.3 CRYGD, CRYG4, CTRCT4, CACA, CCA3, PCC C Crystallin, gamma D 123690 REa, A Cataract 4, multiple types, 115700 (3) 1(Crygd, Lop2)
2.813 1 29 04 2q35 IHH, BDA1 C Indian hedgehog 600726 REa, A, Fd Acrocapitofemoral dysplasia, 607778 (3); Brachydactyly, type A1, 112500 (3)
2.814 2 28 06 2q36.1 PI7, PN1, SERPINE2 P Protease inhibitor 7 (protease nexin I) 177010 REa, M near MYL1; ?COPD susceptibility
2.815 10 10 11 2q33-q36 EJM9 P Epilepsy, juvenile myoclonic, susceptibility to, 9 614280 Fd max lod at D2S2248 {Epilepsy, juvenile myoclonic, susceptibility to, 9} (2)
2.816 10 26 99 2q35 IGFBP5, IBP5 L Insulin-like growth factor-binding protein 5 146734 H 1(Igfbp5)
2.817 1 4 93 2q35 INHA C Inhibin, alpha 147380 REa, RE proximal to PAX3 1(Inha)
2.818 8 29 02 2q36.3 CCL20, SCYA20, MIP3A, LARC P Chemokine, C-C motif, ligand 20 601960 R, Psh
2.819 8 18 98 2q35 CYP27A1, CYP27, CTX P Cytochrome P450, subfamily XXVIIA, polypeptide 1 (sterol 27-hydroxylase) 606530 REa Cerebrotendinous xanthomatosis, 213700 (3) 1(Cyp27)
2.820 2 18 09 2q33.1 ANIB9 P Aneurysm, intracranial berry, 9 612586 Fd associated with rs700651 {Aneurysm, intracranial berry, 9} (2)
2.821 12 30 14 2q33.1 CDK15, PFTAIRE2, ALS2CR7 P Cyclin-dependent kinase 15 616147 REc
2.822 3 24 14 2q32.3 DNAH7, KIAA0944 C Dynein, axonemal, heavy chain 7 610061 R, REc
2.823 1 30 15 2q33.1 FTCDNL1, FONG P Formiminotransferase cyclodeaminase N-terminal like 614308 REc
2.824 7 18 14 2q33.1 GTF3C3, TFIIIC102 P General transcription factor 3C, polypeptide 3 604888 REc
2.825 4 27 12 2q33.1 HSPD1, SPG13, HSP60, HLD4 C Heat-shock 60kD protein 1 118190 Fd, REn, A Spastic paraplegia 13, autosomal dominant, 605280 (3); Leukodystrophy, hypomyelinating, 4, 612233 (3)
2.826 9 4 02 2q33.1 HSPE1, HSP10 C Heat-shock 10kD protein 600141 REn
2.827 12 22 16 2q33.1 MAIP1, C2orf47 P Matrix AAA peptidase-interacting protein 1 617267 REc
2.828 6 23 15 2q33.1 MARS2, SPAX3, COXPD25 P Methionyl-tRNA synthetase 2 609728 R, REc, Fd mutation identified in 1 COXPD25 family Spastic ataxia 3, autosomal recessive, 611390 (3); ?Combined oxidative phosphorylation deficiency 25, 616430 (3)
2.829 8 30 17 2q33.1 MOB4, MOBKL3, PREI3, MOB1, MOB3 P MOB family, member 4 609361 R, REc
2.830 1 8 16 2q33.1 NOP58, NOP5 P Nop58, S. cerevisiae, homolog of 616742 REc
2.831 2 25 16 2q33.1 PGAP1, MRT42 P Post-GPI attachment to proteins 1 611655 REc Mental retardation, autosomal recessive 42, 615802 (3)
2.832 10 26 11 2q33.1 SF3B1, SF3B155, SAP155, MDS P Splicing factor 3B, subunit 1 605590 R, REc Myelodysplastic syndrome, somatic, 614286 (3) 1(Sf3b1)
2.833 12 4 08 2q33.1 SGOL2, SGO2, TRIPIN P Shugoshin-like 2 612425 REc
2.834 4 15 11 2q33.1 SPATS2L, SGNP P Spermatogenesis-associated serine-rich protein 2-like 613817 REc
2.835 1 18 12 2q33.1 TMEM237, ALS2CR4, JBTS14 P Transmembrane protein 237 614423 REc Joubert syndrome 14, 614424 (3)
2.836 10 28 15 2q33.2 WDR12 C WD repeat-containing protein 12 616620 A, REc 1(Wdr12)
2.837 11 4 13 2q33.3 FASTKD2, KIAA0971 P FAST kinase domains 2 612322 R, REc mutation identified in 1 family ?Mitochondrial complex IV deficiency, 220110 (3)
2.838 2 6 07 2q33.3 GPR1 P G protein-coupled receptor-1 600239 R conflicting assignment to 15q21.6
2.839 8 28 17 2q33.3 GPR1AS P GPR1 antisense RNA 617636 REc
2.840 6 4 13 2q33.3 METTL21A, FAM119A P Methyltransferase-like 21A 615257 REc
2.841 4 15 09 2q33.3 OS4, GOA1 P Osteoarthritis susceptibility 4 610839 Fd max lod at D2S2358 {Osteoarthritis susceptibility 4} (2)
2.842 1 14 13 2q34 IDH1 C Isocitrate dehydrogenase, soluble 147700 S, D {Glioma, susceptibility to, somatic}, 137800 (3) 1(Idh1)
2.843 8 1 16 2q33.3 ZDBF2, KIAA1571 C Zinc finger DBF domain-containing protein 2 617059 REc, Psh
2.844 1 18 13 2q35 ABCA12, ARCI4A, ARCI4B, ICR2B, LI2 C ATP-binding cassette, subfamily A, member 12 607800 R, H, Fd Ichthyosis, congenital, autosomal recessive 4A, 601277 (3); Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3) 1(Abca12)
2.845 11 22 13 2q33.3 C2orf80, GONDA1 P Chromosome 2 open reading frame 80 615536 REc
2.846 8 24 04 2q35 CTDSP1, NLIIF, SCP1 P C-terminal domain of RNA polymerase II polypeptide A, small phosphatase of, 1 605323 REc
2.847 11 19 13 2q34 ERBB4, HER4, ALS19 P Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4 600543 A Amyotrophic lateral sclerosis 19, 615515 (3)
2.848 12 28 17 2q35 FN1, FN, LETS, FNZ, GFND2, SMDCF C Fibronectin-1 135600 S, REa, A Glomerulopathy with fibronectin deposits 2, 601894 (3); Spondylometaphyseal dysplasia, corner fracture type, 184255 (3); Plasma fibronectin deficiency, 614101 (1) 1(Fn1)
2.849 8 24 12 2q34 KANSL1L, C2orf67, MSL1V2 P KAT8 regulatory NSL complex subunit 1-like 613833 REc
2.850 9 5 01 2q34 LANCL1, GPR69A C LanC-like 1 (G protein-coupled receptor 69A) 604155 R, A
2.851 12 9 98 2q34 IDDM13 P Insulin-dependent diabetes mellitus-13 601318 Fd {Diabetes mellitus, insulin-dependent, 13} (2)
2.852 2 23 12 2q34 IKZF2, ANF1A2, HELIOS P Ikaros family zinc finger 2 606234 REc
2.853 5 25 00 2q33.3 NRP2, VEGF1265R2, NPN2 P Neuropilin 2 602070 REa, R
2.854 8 1 08 2q34 SPAG16, PF20 P Sperm-associated antigen 16 612173 A, H 1(Spag16)
2.855 1 10 89 2q34 TCL4 P T-cell leukemia/lymphoma-4 186860 Ch, RE Leukemia/lymphoma, T-cell (2)
2.856 4 27 11 2q34 ACADL, LCAD P Acyl-Coenzyme A dehydrogenase, long chain 609576 A 1(Acadl)
2.857 9 18 08 2q36.1 ACSL3, FACL3, ACS3 C Acyl-CoA synthetase long-chain family member 3 602371 Psh, A
2.858 10 4 05 2q35 BARD1 C BRCA1-associated RING domain 1 601593 Psh, REc {Breast cancer, susceptibility to}, 114480 (3)
2.859 10 23 87 2q34 MAP2 P Microtubule-associated protein-2 157130 REa, A
2.860 12 11 02 2q34-q35 SLEN2 P Systemic lupus erythematosus with nephritis, susceptibility to, 2 607966 Fd {Systemic lupus erythematosus with nephritis, susceptibility to, 2} (2)
2.861 6 19 00 2q35 ZNF142 C Zinc finger protein-142 604083 R, A
2.862 8 7 14 2q35 CRYBA2, CTRCT42 P Crystallin, beta A2 600836 REa mutation identified in 1 CTRCT42 family ?Cataract 42, 115900 (3) 1(cryba2)
2.863 4 19 16 2q34-q36 DUP2q35, C2DUPq35, SDTY1, SD1 P Chromosome 2q35 duplication syndrome (syndactyly, type I) 185900 Fd Syndactyly, type 1, with or without craniosynostosis (4)
2.864 1 24 02 2q35 SMARCAL1, HARP, SIOD P SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A-like 606622 REc Schimke immunoosseous dysplasia, 242900 (3) 1(Smarcal1)
2.865 1 16 07 2q37.3 AQP12A, AQPX2, AQP12 C Aquaporin 12A 609789 REc
2.866 5 25 13 2q35 AAMP P Angio-associated migratory cell protein 603488 REc
2.867 6 27 17 2q35 ANKZF1, ZNF744 P Ankyrin repeat- and zinc finger domain-containing 1 617541 REc
2.868 2 1 11 2q35 ARPC2, ARC34 P Actin-related protein 2/3 complex, subunit 2 604224 REc
2.869 8 29 08 2q35 ATG9A, APG9L1 P Autophagy 9, S. cerevisiae, homolog of, A 612204 REc
2.870 6 7 04 2q35 ATIC, PURH, AICAR P 5-aminoimidazole-4-carboxyamide ribonucleotide formyltransferase/IMP cyclohydrolase 601731 REc AICA-ribosiduria due to ATIC deficiency, 608688 (3)
2.871 7 25 17 2q35 CFAP65, CCDC108 P Cilia- and flagella-associated protein 65 614270 REc
2.872 1 24 01 2q35 CDK5R2, NCK5AI P Cyclin-dependent kinase 5, regulatory subunit 2 603764 A
2.873 9 12 13 2q34 CPS1, PHN C Carbamoyl-phosphate synthetase 1, mitochondrial 608307 REa, Fd, A urea cycle enzyme Carbamoylphosphate synthetase I deficiency, 237300 (3); {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3); {Venoocclusive disease after bone marrow transplantation} (3) 1(Cps)
2.874 7 8 11 2q35 CXCR1, IL8RA C Chemokine, CXC motif, receptor 1 146929 REa, A, Psh {AIDS, slow progression to}, 609423 (3)
2.875 2 8 11 2q35 CXCR2, IL8RB, IL8R2 C Chemokine, CXC motif, receptor 2 146928 A, REa, Psh 1(Il8r2)
2.876 8 2 13 2q35 DES, CMD1I, MFM1, SCPNK, ARVD7, ARVC7, LGMD2R C Desmin 125660 REa, A 1 family with LGMD2R identified with mutation Myopathy, myofibrillar, 1, 601419 (3); Cardiomyopathy, dilated, 1I, 604765 (3); Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3); ?Muscular dystrophy, limb-girdle, type 2R, 615325 (3) 1(Des)
2.877 7 11 16 2q35 DNAJB2, HSJ1, HSPF3, DSMA5 P DnaJ, E. coli, homolog of, subfamily B, member 2 (heat-shock protein, DNAJ-like 1) 604139 R, REc Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3)
2.878 3 23 14 2q35 DNPEP, ASPEP, DAP P Aspartyl aminopeptidase 611367 REc
2.879 11 19 13 2q35 GMPPA, AAMR P GDP-mannose pyrophosphorylase A 615495 REc Alacrima, achalasia, and mental retardation syndrome, 615510 (3)
2.880 6 2 06 2q35 GPBAR1, BG37 P G protein-coupled bile acid receptor 1 610147 REc
2.881 6 7 10 2q35 MARCH4, RNF174, KIAA1399 P Membrane-associated RING-CH finger protein 4 608208 R, REc
2.882 3 23 09 2q35 MIR26B, MIRN26B P Micro RNA 26B 612152 REc
2.883 3 23 09 2q35 MIR375, MIRN375 P Micro RNA 375 611173 REc
2.884 8 31 17 2q35 MR1, TAHCCP2, KIPP1184, BRP17, PNKD1, FPD1, PDC, DYT8 C Myofibrillogenesis regulator 1 609023 Fd, REc Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3)
2.885 1 2 08 2q35 MREG, DSU P Melanoregulin 609207 REc, H 1(Dsu)
2.886 2 10 04 2q35 MTBS1 P Mycobacterium tuberculosis, susceptibility to infection by 607949 Fd {Tuberculosis, susceptibility to} (2)
2.887 9 22 09 2q35 NBLST5 P Neuroblastoma, susceptibility to, 5 613016 Fd associated with rs6435862, rs3768716 {Neuroblastoma, susceptibility to, 5} (2)
2.888 1 14 09 2q35 NHEJ1, XLF P Nonhomologous end-joining factor 1 611290 REc Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
2.889 8 24 09 2q35 OBSL1, KIAA0657, 3M2 C Obscurin-like 1 610991 R, REc 3-M syndrome 2, 612921 (3)
2.890 8 27 09 2q35 PECR, TERP P Peroxisomal trans-2-enoyl-CoA reductase 605843 REc
2.891 1 28 10 2q34 PIKFYVE, PIP5K3 C Phosphatidylinositol kinase, FYVE-finger containing 609414 Fd, REc Corneal fleck dystrophy, 121850 (3)
2.892 11 19 09 2q35 PRKAG3 P Protein kinase, AMP-activated, noncatalytic, gamma 3 604976 REc
2.893 5 4 09 2q35 RESP18 P Regulated endocrine-specific protein 18 612721 REc
2.894 9 22 14 2q35 RNF25, AO7 P Ring finger protein 25 616014 REc
2.895 3 29 10 2q35 RPL37A P Ribosomal protein L37A 613314 REc
2.896 8 27 08 2q35 RQCD1, RCD1, CNOT9 P Required for cell differentiation 1, S. pombe, homolog of 612054 REc
2.897 12 21 09 2q35 NRAMP1, NRAMP, SLC11A1 C Solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 600266 REn, REc, Psh, H, Fd within 220 kb of VIL1 {Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3); {Buruli ulcer, susceptibility to}, 610446 (3) 1(Nramp)
2.898 9 19 14 2q35 SPEG, APEG1, CNM5 P SPEG complex locus 615950 REc Centronuclear myopathy 5, 615959 (3)
2.899 3 25 03 2q35 STK36, FU, KIAA1278 C Serine/threonine protein kinase 36 607652 R, REn
2.900 8 19 13 2q35 TMBIM1, RECS1 P Transmembrane BAX inhibitor motif-containing protein 1 610364 REc, R
2.901 7 5 15 2q35 TUBA4A, TUBA1, ALS22 P Tubulin, alpha-4A 191110 REc Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 (3) 1(Tuba4a)
2.902 2 12 16 2q34 UNC80, C2orf21, KIAA1843 P Unc-80 homolog, NALCN activator 612636 R, REc Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3)
2.903 5 5 00 2q35 WNT6 P Wingless-type MMTV integration site family, member 6 604663 A 1(Wnt6)
2.904 7 22 11 2q35 WNT10A, SSPS, STHAG4, OODD C Wingless-type MMTV integration site family, member 10A 606268 REc, Fd Odontoonychodermal dysplasia, 257980 (3); Schopf-Schulz-Passarge syndrome, 224750 (3); Tooth agenesis, selective, 4, 150400 (3)
2.905 6 6 94 2q35 XRCC5 C X-ray repair, complementing defective, repair in Chinese hamster cells-5 194364 REa, R, A included in YAC contig spanning 2q33-q34 1(Xrcc5)
2.906 9 29 10 2q35 ZFAND2B, AIRAPL P Zinc finger AN1 domain-containing protein 2B 613474 REc
2.907 1 22 08 2q35 ACCN4, ASIC4, BNAC4 C Cation channel, amiloride-sensitive, neuronal, 4 606715 R, REc
2.908 5 22 03 2q36.1 KCNE4, MIRP3 P Potassium channel, voltage-gated, ISK-related subfamily, member 4 607775 REc
2.909 1 11 05 2q35-q36 PSHK2 P Pseudohyperkalemia, familial, 2, due to red cell leak 609153 Fd max lod at D2S1338 Pseudohyperkalemia, familial, 2, due to red cell leak (2)
2.910 2 3 99 2q36.1 SCG2, CHGC P Secretogranin II (chromogranin C) 118930 A 1(Scg2)
2.911 6 4 90 2q35 TNP1 P Transition protein-1 190231 REa, A 1(Tp1)
2.912 2 18 08 2q35 TNS1, TNS P Tensin 1 600076 REa, H 1(Tns)
2.913 2 10 04 2q35 VIL1 C Villin-1 193040 A Cholestasis, progressive canalicular (1) 1(Vil)
2.914 6 4 97 2q35 PTPRN, IA2 P Protein tyrosine phosphatase, receptor type N (islet cell antigen 2) 601773 A, R 1(Ptprn)
2.915 3 5 95 2q37.3 GPC1 P Glypican 1 600395 A
2.916 2 25 16 2q35 ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2 P ATP-binding cassette, subfamily B, member 6 605452 A, Fd Microphthalmia, isolated, with coloboma 7, 614497 (3); [Blood group, Langereis system], 111600 (3); Dyschromatosis universalis hereditaria 3, 615402 (3); Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3)
2.917 4 20 04 2q36 ACRPV P Acropectorovertebral dysplasia (F syndrome) 102510 Fd Acropectorovertebral dysplasia (2)
2.918 7 18 14 2q36.3 AGFG1, HRB, RIP, RAB P ADP-ribosylation factor GTPase-activating protein with FG repeats 1 600862 A
2.919 12 23 05 2q36.1 FARSLB, FRSB P Phenylalanine-tRNA synthetase-like, beta subunit 609690 REc
2.920 8 27 09 2q35 FEV P Fifth Ewing sarcoma variant 607150 REa, REc fused with EWS in tumors
2.921 5 23 11 2q36 IGAN2 P IgA nephropathy, susceptibility to, 2 613944 Fd between D2S1323 and D2S362 {IgA nephropathy, susceptibility to, 2} (2)
2.922 1 11 07 2q36.3 IRS1 P Insulin receptor substrate-1 147545 REa, A {Diabetes mellitus, noninsulin-dependent}, 125853 (3); {Coronary artery disease, susceptibility to} (3) 1(Irs1)
2.923 9 9 13 2q36.1 MRPL44, COXPD16 P Mitochondrial ribosomal protein L44 611849 R, REc Mutation identified in 1 family ?Combined oxidative phosphorylation deficiency 16, 615395 (3)
2.924 10 9 94 2q35 SLC2C, AE3 C Anion exchanger 3, neuronal 106195 A, Psh, Fd 1(Ae3)
2.925 12 18 07 2q36.3 SPHKAP, SKIP, KIAA1678 P SPHK1 interactor, AKAP domain containing 611646 R, REc
2.926 9 12 02 2q35 STK11IP, KIAA1898, LIP1 P Serine/threonine kinase 11 interacting protein 607172 R
2.927 11 22 99 2q37.3 AGXT, SPAT C Alanine-glyoxylate aminotransferase, liver-specific peroxisomal 604285 A, REa Hyperoxaluria, primary, type 1, 259900 (3)
2.928 5 4 12 2q36.3 COL4A3 C Collagen IV, alpha-3 polypeptide (Goodpasture antigen) 120070 REa, A, RE noncollagenous domain = Goodpasture antigen Alport syndrome, autosomal recessive, 203780 (3); Hematuria, benign familial, 141200 (3); Alport syndrome, autosomal dominant, 104200 (3)
2.929 5 8 97 2q36.3 COL4A4 C Collagen IV, alpha-4 polypeptide 120131 REa, A head-to-head with COL4A4 in same YAC Alport syndrome, autosomal recessive, 203780 (3); Hematuria, familial benign (3)
2.930 2 8 13 2q37.1 ECEL1, XCE, DA5D P Endothelin-converting enzyme-like 1 605896 A Arthrogryposis, distal, type 5D, 615065 (3)
2.931 2 18 98 2q37.2 GBX2 P Gastrulation brain homeobox 2 601135 Psh, A 1(Gbx2)
2.932 5 12 89 2q24.2 GCG C Glucagon 138030 REa, A [?Hyperproglucagonemia] (1) 2(Gcg)
2.933 8 15 97 2q37.1 INPP5D, SHIP P Inositol polyphosphate-5-phosphatase, 145kD 601582 A 1(Inpp5d)
2.934 4 7 14 2q37.1 PDE6D, JBTS22 C Phosphodiesterase 6D, cGMP-specific, rod, delta 602676 A, R mutation identified in 1 JBTS22 family ?Joubert syndrome 22, 615665 (3) 1(Pde6d)
2.935 8 27 09 2q37.1 PTMA, TMSA P Prothymosin, alpha (gene sequence 28) 188390 REa, REc
2.936 2 14 01 2q37.3 RAMP1 C Receptor activity-modifying protein 1 605153 R 1(Ramp1)
2.937 12 1 14 2q36.1 AP1S3, PSORS15 P Adaptor-related protein complex 1, sigma-3 subunit 615781 REc {Psoriasis 15, pustular, susceptibility to}, 616106 (3)
2.938 4 14 10 2q35 CHPF, CSS2 C Chondroitin polymerizing factor 610405 REc
2.939 9 27 17 2q36.1 EPHA4, HEK8, TYRO1 P Ephrin receptor EphA4 602188 REc
2.940 8 3 12 2q36.1 MOGAT1, MGAT1, DGAT2L1 P Monoacylglycerol O-acyltransferase 1 610268 REc, R
2.941 2 23 12 2q36.1 PAX3, WS1, HUP2, CDHS, WS3 C Paired box homeotic gene-3 606597 Ch, Fd, H, A, Psh Waardenburg syndrome, type 1, 193500 (3); Waardenburg syndrome, type 3, 148820 (3); Craniofacial-deafness-hand syndrome, 122880 (3); Rhabdomyosarcoma 2, alveolar, 268220 (3) 1(Sp)
2.942 7 16 09 2q36.1 SGPP2, SPP2 P Sphingosine-1-phosphate phosphatase 2 612827 REc
2.943 2 21 10 2q36.1-q36.3 SPDA3 P Spondyloarthropathy, susceptibility to, 3 613238 Fd max lod at D2S2228 {Spondyloarthropathy, susceptibility to, 3} (2)
2.944 12 10 10 2q36.2 RJBS P Rajab syndrome 613658 Fd between D2S351 and D2S2390 Rajab syndrome (2)
2.945 10 13 09 2q36.2 DOCK10, KIAA0694, ZIZ3 P Dedicator of cytokinesis 10 611518 R, REc
2.946 2 27 12 2q36.2 CUL3, PHA2E P Cullin 3 603136 R, REc Pseudohypoaldosteronism, type IIE, 614496 (3)
2.947 8 25 16 2q36.3 MFF, C2orf33, EMPF2 P Mitochondrial fission factor 614785 REc Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3)
2.948 12 10 13 2q36.3 NYPA2, KIAA1486 P Neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 2 615478 REc, R
2.949 8 17 09 2q36.3 PID1, NYGGF4 P Phosphotyrosine interaction domain-containing 1 612930 REc
2.950 6 12 17 2q36.3 RHBDD1, RRP4, RHBDL4 P Rhomboid domain-containing 1 617515 REc
2.951 2 13 12 2q36.3 SLC19A3, THMD2, BBGD C Solute carrier family 19 (folate transporter), member 3 606152 A, H, Fd Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) 1(Slc19a3)
2.952 10 15 13 2q36.3 TM4SF20, SLI5 P Transmembrane 4 L6 family, member 20 615404 REc {Specific language impairment 5}, 615432 (3)
2.953 11 7 17 2q36.3 TRIP12, MRD49 P Thyroid hormone receptor interactor 12 604506 REa, REc Mental retardation, autosomal dominant 49, 617752 (3)
2.954 3 14 96 2q37.1 HTR2B P 5-hydroxytryptamine (serotonin) receptor-2B 601122 A
2.955 4 12 92 2q37.1 ALPP C Alkaline phosphatase, placental (Regan isozyme) 171800 REb, REa, A, RE 4(Akp2)
2.956 4 12 92 2q37.1 ALPPL2 P Alkaline phosphatase, placental-like 2 171810 REa, A
2.957 9 22 08 2q37.3 ASB1 P Ankyrin repeat-containing SOCS box protein 1 605758 R, REc 1(Asb1)
2.958 10 14 15 2q37 BDMR, C2DELq37, DEL2q37 P Chromosome 2q37 deletion syndrome 600430 Ch Chromosome 2q37 deletion syndrome (4)
2.959 7 20 15 2q37.3 COL6A3, DYT27, BTHLM1, UCMD1 C Collagen VI, alpha-3 polypeptide 120250 REa, A close to CRBP1 Bethlem myopathy 1, 158810 (3); Ullrich congenital muscular dystrophy 1, 254090 (3); Dystonia 27, 616411 (3) 1(Col6a3)
2.960 8 11 15 2q37.3 ACKR3, CXCR7, CMKOR1, GPR159, RDC1 P Atypical chemokine receptor 3 610376 A
2.961 4 29 03 2q36.3 DNER P Delta-and notch-like egf-related receptor 607299 REc
2.962 3 9 00 2q37.1 GPR55 P G protein-coupled receptor 55 604107 A
2.963 12 29 99 2q37.3 HDLBP, VGL P High-density lipoprotein-binding protein 142695 REa, A
2.964 3 28 12 2q37 IBGC2 P Basal ganglia calcification, idiopathic, 2 606656 Fd Basal ganglia calcification, idiopathic, 2 (2)
2.965 9 1 05 2q37.1 ITM2C, BRI3 P Integral membrane protein 2C 609554 REc
2.966 8 25 11 2q37.1 KCNJ13, SVD, LCA16 C Potassium inwardly-rectifying channel, subfamily J, member 13 603208 R, Fd Snowflake vitreoretinal degeneration, 193230 (3); Leber congenital amaurosis 16, 614186 (3)
2.967 10 3 11 2q37.3 KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9 P Kinesin family member 1A 601255 Psh, A incorrectly assigned to chr.9 Spastic paraplegia 30, autosomal recessive, 610357 (3); Neuropathy, hereditary sensory, type IIC, 614213 (3); Mental retardation, autosomal dominant 9, 614255 (3)
2.968 5 31 05 2q37.3 MLPH P Melanophilin 606526 R, H Griscelli syndrome, type 3, 609227 (3) 1(Mlph)
2.969 1 8 01 2q37.1 NEU2, SIAL2 P Neuraminidase 2 605528 A, R
2.970 7 17 01 2q37.1 NGEF P Neuronal guanine nucleotide exchange factor 605991 REc, A 1(Ngef)
2.971 10 1 07 2q37.3 SEPT2, NEDD5, DIFF6 P Septin 2 601506 A
2.972 3 26 02 2q37.1 TRPM8, TRPP8 P Transient receptor potential cation channel, subfamily M, member 8 606678 REc
2.973 6 7 10 2q37.1 UGT1A1, UGT1, GNT1, BILIQTL1 C UDP glycosyltransferase 1 family, polypeptide A1 191740 REa Crigler-Najjar syndrome, type I, 218800 (3); [Gilbert syndrome], 143500 (3); Crigler-Najjar syndrome, type II, 606785 (3); Hyperbilirubinemia, familial transient neonatal, 237900 (3); [Bilirubin, serum level of, QTL1], 601816 (3) 1(Ugt1)
2.974 11 1 01 2q37.1 UGT1A3, UGT1C P UDP-glycosyltransferase 1 family, polypeptide A3 606428 REa, REn
2.975 11 1 01 2q37.1 UGT1A4, UGT1D P UDP-glycosyltransferase 1 family, polypeptide A4 606429 REa, REn
2.976 11 1 01 2q37.1 UGT1A5 P UDP-glycosyltransferase 1 family, polypeptide A5 606430 REa, REn
2.977 11 1 01 2q37.1 UGT1A8 P UDP-glycosyltransferase 1 family, polypeptide A8 606433 REa, REn
2.978 11 1 01 2q37.1 UGT1A6 P UDP-glycosyltransferase 1 family, polypeptide A6 606431 REa, REn
2.979 11 1 01 2q37.1 UGT1A7 P UDP-glycosyltransferase 1 family, polypeptide A7 606432 REa, REn
2.980 11 1 01 2q37.1 UGT1A9 P UDP-glycosyltransferase 1 family, polypeptide A9 606434 REa, REn
2.981 11 1 01 2q37.1 UGT1A10 P UDP-glycosyltransferase 1 family, polypeptide A10 606435 REa, REn
2.982 6 10 98 2q37.1 SPP2 P Secreted phosphoprotein-2, 24kD 602637 R, A
2.983 6 22 01 2q37.1 ALPI C Alkaline phosphatase, intestinal 171740 A, REa, RE, REc close to ALPP; proximal to PAX3 1(Akp3)
2.984 7 20 12 2q37.1 ARL4C, ARL7 P ADP-ribosylation factor-like 4C 604787 REc
2.985 8 15 17 2q37.1 ARMC9, KIAA1868, JBTS30 P Armadillo repeat-containing protein 9 617612 REc Joubert syndrome 30, 617622 (3)
2.986 8 2 16 2q37.1 ATG16L1, APG16L, IBD10 C Autophagy 16-like 1 610767 REc {Inflammatory bowel disease (Crohn disease) 10}, 611081 (3)
2.987 7 22 13 2q37.1 B3GNT7 P Beta-1,3-N-acetylglucosaminyltransferase 7 615313 REc
2.988 8 1 08 2q37.1 CAB39 P Calcium-binding protein 39 612174 R, REc
2.989 9 22 14 2q37.1 COPS7B P COP9 signalosome, subunit 7B 616010 REc
2.990 1 9 07 2q37.1 DGKD P Diacylglycerol kinase, delta, 130kD 601826 REc
2.991 2 18 08 2q37.1 EFHD1 P EF-hand domain family, member D1 611617 REc
2.992 2 21 06 2q37.1 EIF4E2, EIF4EL3, 4EHP C Eukaryotic translation initiation factor 4E family, member 2 605895 R, REc
2.993 9 9 08 2q36.3 FBXO36, FBX36 P F-box only protein 36 609105 REc 1(Fbxo36)
2.994 4 10 15 2q37.1 GIGYF2, KIAA0642, PARK11 C GRB10-interacting GYF protein 2 612003 R, REc, Fd {Parkinson disease 11}, 607688 (3) 1(Gigyf2)
2.995 3 23 09 2q37.1 HJURP P Holliday junction recognition protein 612667 REc
2.996 3 23 06 2q37.1 MYP12 P Myopia 12 609995 Fd max lod at D2S2344 Myopia 12 (2)
2.997 5 19 06 2q37.1 NMUR1, GPR66, FM3 P Neuromedin U receptor 1 604153 REc
2.998 4 15 11 2q37.1 PRSS56, MCOP6 P Protease, serine, 56 613858 REc, Fd Microphthalmia, isolated 6, 613517 (3)
2.999 1 22 18 2q37.1 PSMD1 C Proteasome 26S subunit, non-ATPase, 1 617842 REc, A
2.1000 2 25 14 2q37.1 SCARNA5 P Small Cajal body-specific RNA 5 615640 REc within intron 9 of ATG16L1
2.1001 2 25 14 2q37.1 SCARNA6 P Small Cajal body-specific RNA 6 615641 REc within intron 12 of ATG16L1
2.1002 7 7 05 2q37.1 SP100 P Nuclear antigen SP100 604585 R, REc
2.1003 10 11 06 2q37.1 SP110, IFI41, IFI75, VODI C SP110 nuclear body protein (interferon-induced protein 41, 30kD; interferon-induced protein 75, 52kD) 604457 R, Fd Hepatic venoocclusive disease with immunodeficiency, 235550 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
2.1004 4 23 09 2q37.1 SAG, RP47 C S-antigen; retina and pineal gland (arrestin) 181031 REa, A, Fd Oguchi disease-1, 258100 (3); Retinitis pigmentosa 47, 613758 (3) 1(Sag)
2.1005 10 26 17 2q37.1 SP140L P Nuclear body protein SP140-like 617747 REc
2.1006 9 7 10 2q37.1 STQTL21 P Stature quantitative trait locus 21 613440 Fd associated with rs6717918 {Stature QTL 21} (2)
2.1007 9 10 09 2q37.1 TIGD1 P TIGGER transposable element-derived gene 1 612972 REc
2.1008 5 24 13 2q37.1 USP40 P Ubiquitin-specific protease 40 610570 REc, R
2.1009 2 5 01 2q37.2 SH3BP4, BOG25 P SH3 domain-binding protein 4 605611 A
2.1010 7 20 01 2q37.1-q37.3 HPE6 P Holoprosencephaly 6 605934 Ch Holoprosencephaly 6 (2)
2.1011 3 16 12 2q37.1 DIS3L2, PRLMNS P Dis3 mitotic control, S. cerevisiae, homolog-like 2 614184 REc Perlman syndrome, 267000 (3)
2.1012 10 13 15 2q37.3 HDAC4, HDACA P Histone deacetylase 4 605314 A, Ch
2.1013 4 2 16 2q37.3 ATG4B, APG4B, KIAA0943 P Autophagy 4, S. cerevisiae, homolog of, B 611338 REc
2.1014 9 27 17 2q37.3 BOK, BCL2L9 P BCL2-related ovarian killer 605404 REc
2.1015 4 17 09 2q37.3 CAPN10, NIDDM1 C Calpain-10 605286 A, REc {Diabetes mellitus, noninsulin-dependent 1}, 601283 (3)
2.1016 9 22 14 2q37.3 COPS8, CSN8 P COP9 signalosome, subunit 8 616011 REc, H 1(Csn8)
2.1017 10 23 08 2q37.3 D2HGDH, D2HGD P D-2-hydroxyglutarate dehydrogenase 609186 REc D-2-hydroxyglutaric aciduria, 600721 (3)
2.1018 5 25 13 2q37.3 DTYMK, TYMK, CDC8 P Deoxythymidylate kinase 188345 REc
2.1019 2 15 18 2q37.3 ERFE, FAM132B, CTRP15 P Erythroferrone 615099 REc 1(Fam132b)
2.1020 8 2 17 2q37.3 FARP2, FRG, FIR P FERM, ARHGEF, and pleckstrin domain-containing protein 2 617586 REc
2.1021 2 7 07 2q37.3 GAL3ST2, GP3ST P Galactose-3-O-sulfotransferase 2 608237 REc
2.1022 6 19 98 2q37.3 GPR35 P G protein-coupled receptor-35 602646 A
2.1023 8 31 06 2q37.3 HES6 P Hairy/enhancer of split, Drosophila, homolog of, 6 610331 R, REc
2.1024 3 15 04 2q37.3 ING5 P Inhibitor of growth-5 608525 R, REc
2.1025 7 1 11 2q37.3 LRRFIP1, GCF2, TRIP, FLAP1 P Leucine-rich repeat in FLII-interacting protein 1 603256 REc
2.1026 5 6 13 2q37.3 MIR149 P Micro RNA 149 615209 REc
2.1027 1 13 15 2q37.3 MTERF4, MTERFD2 P Mitochondrial transcription termination factor 4 615393 REc
2.1028 12 5 16 2q37.3 NDUFA10 P NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 10 603835 REa, REc Leigh syndrome, 256000 (3)
2.1029 5 25 13 2q37.3 NEU4 P Neuraminidase 4 608527 REc 1(Neu4)
2.1030 6 12 03 2q37.3 OTOSP P Otospiralin 607877 A, R
2.1031 3 3 03 2q37.3 PASK, KIAA0135 P Pas domain-containing serine-threonine kinase 607505 REc
2.1032 1 6 11 2q37.3 PDCD1, SLEB2 C Programmed cell death 1 600244 A, Fd {Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3); {Multiple sclerosis, disease progression, modifier of}, 126200 (3)
2.1033 5 13 13 2q37.3 PER2, FASPS1, KIAA0347 P Period, Drosophila, homolog of, 2 603426 Fd, A, REc Advanced sleep phase syndrome, familial, 1, 604348 (3)
2.1034 8 20 98 2q37.3 PPP1R7, SDS22 P Protein phosphatase 1, regulatory subunit 7 602877 REa, REc
2.1035 9 27 17 2q37.3 PRLH, PRRP P Prolactin-releasing hormone 602663 REc
2.1036 10 28 09 2q37.3 RAB17 P Ras-associated protein 602206 REc
2.1037 9 28 00 2q37.3 RNPEPL1 P Arginyl aminopeptidase-like 1 (aminopeptidase B-like) 605287 REn
2.1038 8 21 07 2q37.3 SCLY, SCL P Selenocysteine lyase 611056 R, REc
2.1039 11 18 15 2q37.3 SNED1, SNEP P SUSHI, NIDOGEN, and EGF-like domains protein 1 616634 REc 1(Sned1)
2.1040 9 20 14 2q37.3 STK25, SOK1, YSK1 P Serine/threonine protein kinase 25 602255 REc
2.1041 1 20 09 2q37.3 THAP4 P THAP domain-containing protein 4 612533 REc
2.1042 1 2 08 2q37.3 TMEM16G, PCANAP5, IPCA5, DTMPP, NGEP P Transmembrane protein 16G 605096 REc
2.1043 11 4 15 2q37.3 TRAF3IP1, MIPT3, SLSN9 P TNF receptor-associated factor 3-interacting protein 1 607380 REc Senior-Loken syndrome 9, 616629 (3)
2.1044 10 11 17 2q37.3 UBE2F, NCE2 P Ubiquitin-conjugating enzyme E2F 617700 REc
2.1045 8 11 15 2q37.3 TWIST2, DERMO1, SETLSS, FFDD3, BBRSAY, AMS P Twist, Drosophila, homolog of, 2 (dermis-expressed protein 1, mouse, homolog of) 607556 REc Focal facial dermal dysplasia 3, Setleis type, 227260 (3); Barber-Say syndrome, 209885 (3); Ablepharon-macrostomia syndrome, 200110 (3)
2.1046 4 6 00 Chr.2 TSE2 P Transsuppressor of expression 2 601136 M
3.1 3 10 11 3pter-p25 DEL3pterp25, C3DELpterp25 P 3p- syndrome (chromosome 3pter-p25 deletion syndrome) 613792 Ch contiguous gene deletion syndrome 3p- syndrome (4)
3.2 12 22 89 3p22.1 CCK C Cholecystokinin 118440 REb, REa 9(Cck)
3.3 3 10 11 3p22.2 CX3CR1, GPR13, V28 P Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13) 601470 REa {Rapid progression to AIDS from HIV1 infection}, 609423 (3); {Coronary artery disease, resistance to}, 607339 (3); {Macular degeneration, age-related, 12}, 613784 (3)
3.4 2 15 96 3p21.31 SEP P SEP transmembrane protein 601053 REa
3.5 3 17 05 3p26.2 CRBN, MRT2 C Cereblon 609262 Fd, REc between D3S3525 and D3S1560 Mental retardation, autosomal recessive 2, 607417 (3)
3.6 12 17 07 3p26.1 EGO P Eosinophil granule ontogeny 611662 REc
3.7 1 8 01 3p25.3 OGG1 C 8-hydroxyguanine DNA glycosylase 601982 A Renal cell carcinoma, clear cell, somatic, 144700 (3) 6(Ogg1)
3.8 3 5 95 3p25.3 OXTR C Oxytocin receptor 167055 A, Psh 3p25 by others; within 7-10kb of CAV3
3.9 10 23 15 3p26.1 ARL8B, GIE1 P ADP-ribosylation factor-like 8B 616596 REc
3.10 2 28 03 3p26.3 CHL1, CALL, L1CAM2 C CHL1, mouse, homolog of (L1 cell adhesion molecule 2) 607416 A, D 6(Chl1)
3.11 4 3 03 3p26.1 EDEM, KIAA0212 P ER degradation-enhancing alpha-mannosidase-like protein 607673 R
3.12 4 19 12 3p26.1 GRM7, MGLUR7 P Glutamate receptor, metabotropic, 7 604101 R, REc
3.13 6 10 16 3p26.1 ITPR1, SCA15, SCA16, SCA29 C Inositol 1,4,5-triphosphate receptor, type 1 147265 REa, A, Fd, REc Spinocerebellar ataxia 15, 606658 (3); Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3); Gillespie syndrome, 206700 (3) 6(Itpr1)
3.14 5 12 17 3p25.3 SSUH2, C3orf32, FLS485 C Ssu2, C. elegans, homolog of 617479 REc
3.15 8 24 09 3p26.1-p25.1 ARHI2 P Age-related hearing impairment 2 612976 Fd associated with rs11928865, rs779701, and rs779706 {Age-related hearing impairment 2} (2)
3.16 9 30 10 3p26.1 BHLHE40, HLHB2, STRA13, DEC1 P Basic helix-loop-helix family, member E40 604256 A
3.17 5 30 00 3p12.3 CNTN3, PANG P Contactin 3 (plasmocytoma-associated neuronal glycoprotein) 601325 REa, H 6(Pang)
3.18 5 1 08 3p26 HPC5 P Prostate cancer, hereditary, 5 609299 Fd between D3S1270 and D3S4559 {Prostate cancer, hereditary, 5}, 176807 (2)
3.19 3 8 04 3p26 IBD9 P Inflammatory bowel disease 9 608448 Fd {Inflammatory bowel disease 9} (2)
3.20 3 20 06 3p26.1 SETMAR, METNASE P SET and Mariner transposase domains-containing protein 609834 REc
3.21 5 23 06 3p26 STQTL5 P Stature quantitative trait locus 5 608982 Fd max lod between D3S1297 and D3S1304 {Stature QTL 5} (2)
3.22 10 29 03 3p26.1 SUMF1, FGE P Sulfatase-modifying factor-1 607939 REc, H Multiple sulfatase deficiency, 272200 (3) 6(Sumf1)
3.23 5 25 05 3p25.3 ATP2B2, PMCA2 C ATPase, Ca++ transporting, plasma membrane, 2 108733 REa {Deafness, autosomal recessive 12, modifier of}, 601386 (3)
3.24 2 9 17 3p25.3 BRPF1, BR140, IDDDFP P Bromodomain- and PHD finger-containing protein 1, 140kD 602410 A Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (3)
3.25 6 9 08 3p26.3-p26.2 CNTN4 C Contactin 4 607280 REc, Fd
3.26 10 17 02 3p26.3 CNTN6, NB3 P Contactin 6 607220 A
3.27 2 20 03 3p25.3 GHRL P Ghrelin 605353 REc {Obesity, susceptibility to}, 601665 (3)
3.28 11 5 02 3p25.3 VHL C VHL gene 608537 Fd, D, RE von Hippel-Lindau syndrome, 193300 (3); Renal cell carcinoma, somatic, 144700 (3); Pheochromocytoma, 171300 (3); Hemangioblastoma, cerebellar, somatic (3); Erythrocytosis, familial, 2, 263400 (3)
3.29 9 12 08 3p26-p24.2 MYMY1, MYMY P Moyamoya disease 252350 Fd max lod at D3S3050 Moyamoya disease (2)
3.30 6 7 94 3p26.2 IL5RA C Interleukin-5 receptor, alpha 147851 REa, A 6(Il5r)
3.31 5 11 00 3p25.3 LMCD1 P LIM and cysteine-rich domains 1 604859 R 6(Lmcd1)
3.32 11 11 14 3p25.3 ARPC4, ARC20 P Actin-related protein 2/3 complex, subunit 4 604226 REc
3.33 5 9 12 3p25.3 ATG7, APG7L, GSA7 P Autophagy 7, S. cerevisiae, homolog of 608760 REc, R
3.34 2 25 14 3p25.3 BRK1, C3orf10, HSPC300 P BRICK1, SCAR/WAVE actin-nucleating complex subunit 611183 REc
3.35 8 28 09 3p25.3 CAMK1, CAMKI P Calcium/calmodulin-dependent protein kinase I 604998 REa, REc
3.36 4 24 03 3p25.3 CRELD1, AVSD2 C Cysteine-rich protein with EGF-like domains 1 607170 R, REc, H {Atrioventricular septal defect, susceptibility to, 2}, 606217 (3); Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3) 6(Creld1)
3.37 3 14 01 3p25.3 FANCD2, FANCD, FACD, FAD P Fanconi anemia, complementation group D2 613984 M Fanconi anemia, complementation group D2, 227646 (3)
3.38 1 9 13 3p25.3 IL17RE P Interleukin 17 receptor E 614995 REc
3.39 4 6 10 3p25.3 IRAK2 P Interleukin 1 receptor-associated kinase 2 603304 REc
3.40 9 24 14 3p25.3 JAGN1, SCN6 P Jagunal, Drosophila, homolog of, 1 616012 REc Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3) 6(Jagn1)
3.41 8 22 07 3p25.3 MTMR14, C3orf29, HJUMPY P Myotubularin-related protein 14 611089 REc {Centronuclear myopathy, autosomal, modifier of}, 160150 (3)
3.42 11 10 17 3p25.3 RPUSD3 P RNA pseudouridylate synthase domain-containing protein 3 617759 REc
3.43 4 29 14 3p25.3 SETD5, KIAA1757 P SET domain-containing protein 5 615743 REc Mental retardation, autosomal dominant 23, 615761 (3)
3.44 2 2 10 3p25.3 SLC6A11, GAT3, GAT4 P Solute carrier family 6 (neurotransmitter transporter, GABA), member 11 607952 REc
3.45 4 26 10 3p25.3 TADA3, TADA3L, ADA3 P Transcriptional adaptor 3 602945 R, REc
3.46 7 6 15 3p25.3 IL17RC, IL17RL, CANDF9 P Interleukin 17 receptor C 610925 REc Candidiasis, familial, 9, 616445 (3)
3.47 1 27 04 3p22.1 TRAK1, OIP106, KIAA1042 C Trafficking protein, kinesin-binding 1 608112 R, REc 9(hyrt)
3.48 5 7 03 3p23 OSBPL10, ORP10 C Oxysterol-binding protein-like protein 10 606738 REc
3.49 2 25 15 3p25.2 CAND2, TIP120B, KIAA0667 P Cullin-associated neddylation -dissociated 2 610403 R, REc
3.50 8 19 13 3p25.2 IQSEC1, KIAA0763 P IQ motif- and Sec7 domain-containing protein 1 610166 R, REc
3.51 12 17 12 3p25.2 TAMM41, RAM41, C3orf31 P Translocator assembly and maintenance, mitochondrial, S. cerevisiae, homolog of 614948 REc
3.52 4 15 03 3p25.2-p25.1 UVM2 C Melanoma, uveal, susceptibility to, 2 606661 Ch, D {Melanoma, uveal, susceptibility to, 2} (2)
3.53 11 29 04 3p25.1 BTD P Biotinidase 609019 A Biotinidase deficiency, 253260 (3)
3.54 11 2 11 3p25.3 CAV3, LGMD1C, LQT9 C Caveolin-3 601253 A, REc within 7-10kb of OXTR Muscular dystrophy, limb-girdle, type IC, 607801 (3); Rippling muscle disease, 606072 (3); Creatine phosphokinase, elevated serum, 123320 (3); Myopathy, distal, Tateyama type, 614321 (3); Cardiomyopathy, familial hypertrophic, 192600 (3); Long QT syndrome 9, 611818 (3)
3.55 5 23 13 3p25.3 CIDEC, FSP27, CIDE3, FPLD5 P Cell death-inducing DFFA-like effector C 612120 REc 1 patient identified with mutation ?Lipodystrophy, familial partial, type 5, 615238 (3)
3.56 4 30 15 3p25.1 COLQ, EAD, CMS5 C Collagenic tail of endplate acetylcholinesterase 603033 A, R Myasthenic syndrome, congenital, 5, 603034 (3)
3.57 5 24 13 3p25.3 LHFPL4 P LHFP-like protein 4 610240 REc
3.58 2 2 04 3p25.2 MKRN2 P Makorin 2 608426 REc 6(Mkrn2)
3.59 4 24 08 3p25.1 MRPS25 P Mitochondrial ribosomal protein S25 611987 R, REc
3.60 10 21 99 3p25.1 NR2C2, TR4, TAK1 P Nuclear receptor subfamily 2, group C, member 2 601426 REa, A
3.61 3 27 09 3p25.2 PPARG, PPARG1, PPARG2, CIMT1, GLM1 C Peroxisome proliferator activated receptor, gamma 601487 REa, Fd, A PPARG1, PPARG2 from same gene Obesity, severe, 601665 (3); [Obesity, resistance to] (3); Insulin resistance, severe, digenic, 604367 (3); Lipodystrophy, familial partial, type 3, 604367 (3); Carotid intimal medial thickness 1, 609338 (3); {Diabetes, type 2}, 125853 (3)
3.62 8 3 14 3p25.2 RAF1, CRAF, NS5, CMD1NN C Oncogene RAF1 164760 REa, Fd, A Noonan syndrome 5, 611553 (3); LEOPARD syndrome 2, 611554 (3); Cardiomyopathy, dilated, 1NN, 615916 (3) 6(Raf1)
3.63 10 28 02 3p25.3 SRGAP3, KIAA0411, MEGAP C Slit-robo GTPase-activating protein, rho, 3 606525 R, Ch
3.64 8 19 99 3p25 ST11, PETS1 P Suppression of tumorigenicity 11, pancreas 602011 D ?Pancreatic endocrine tumors (1)
3.65 11 2 04 3p25.2 SYN2 C Synapsin II 600755 REa, H, REn {Schizophrenia, susceptibility to}, 181500 (3) 6(Syn2)
3.66 10 3 02 3p25.2 TIMP4 P Tissue inhibitor of metalloproteinase 4 601915 A 6(Timp4)
3.67 3 27 13 3p25.1 TMEM43, ARVD5, ARVC5, EDMD7 C Transmembrane protein 43 612048 REc, Fd Arrhythmogenic right ventricular dysplasia 5, 604400 (3); Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3)
3.68 7 18 06 3p25.1 WNT7A C Wingless-type MMTV integration site family, member 7A 601570 A, Fd Ulna and fibula, absence of, with severe limb deficiency, 276820 (3); Fuhrmann syndrome, 228930 (3)
3.69 2 19 10 3p25.1 XPC, XPCC C XPC gene 613208 REa, A, RE Xeroderma pigmentosum, group C, 278720 (3) 6(Xpc)
3.70 10 5 11 3p24.3 PLCL2, KIAA1092 C Phospholipase C-like 2 614276 R, REc
3.71 9 19 00 3p25.3 RAD18 P Rad18, S. cerevisiae, homolog of 605256 A, R
3.72 5 7 97 3p25.3 SEC13L1, D3S1231E, SEC13R P SEC13, S. cerevisiae, like 1 600152 Psh, A 6(Sec13n)
3.73 10 9 94 3p25.1 FBLN2 P Fibulin-2 135821 A 6(Fbln2)
3.74 6 19 15 3p25.3 SLC6A1, GABATR, MAE P Solute carrier family 6 (neurotransmitter transporter, GABA), member 1 137165 A Myoclonic-atonic epilepsy, 616421 (3)
3.75 5 27 05 3p25-p22 OVCAS1 P Ovarian cancer, susceptibility to, 1 607893 Fd between D3S1597 and D3S3611 {Ovarian cancer, susceptibility to} (2)
3.76 3 5 95 3p25.1 SLC6A6, TAUT C Solute carrier family 6 (neurotransmitter transporter, taurine), member 6 186854 REa, A 6(Slc6a6)
3.77 9 10 07 3p25.1 ANKRD28, PITK, KIAA0379 C Ankyrin repeat domain-containing protein 28 611122 R, REc
3.78 2 18 16 3p25.1 CCDC174, HSPC212, IHPM C Coiled-coil domain-containing protein 174 616735 Psh, REc Hypotonia, infantile, with psychomotor retardation, 616816 (3)
3.79 8 21 07 3p25.1 CHDH4, MIA40 P Coiled-coil-helix-coiled-coil-helix domain-containing protein 4 611077 REc
3.80 12 4 03 3p25.1 EAF1 P ELL-associated factor 1 608315 R, REc
3.81 8 31 12 3p25.1 FGD5 P FYVE, RhoGEF, and PH domain-containing protein 5 614788 REc
3.82 4 6 13 3p25.1 GALNT15, GALNACT15 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 615131 REc
3.83 6 22 14 3p25.1 HACL1, HPCL2 P 2-hydroxyacyl-CoA lyase 1 604300 REc
3.84 8 28 09 3p25.1 NUP210, GP210, KIAA0906 P Nucleoporin, 210kD 607703 R, REc
3.85 11 19 10 3p25.1 SH3BP5, SAB P SH3 domain-binding protein 5 605612 REc, A previously mapped to 1q431 14(Sh3bp5)
3.86 6 2 16 3p26.2 TRNT1, SIFD, RPEM P tRNA nucleotidyltransferase, CCA-adding, 1 612907 REc pseudogenes on chromosomes 1 and 22 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3); Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3)
3.87 11 21 02 3p25.1 LSM3 P LSM3 protein 607283 REc
3.88 7 8 16 3p25.1 RBSN, ZFYVE20 P Rabenosyn 5 609511 R, REc
3.89 11 15 08 3p25.2 TSEN2, SEN2, PCH2B P tRNA splicing endonuclease 2, S. cerevisiae, homolog of 608753 REc Pontocerebellar hypoplasia type 2B, 612389 (3)
3.90 8 20 10 3p25.1-p23 LGMD1H P Muscular dystrophy, limb-girdle, type 1H 613530 Fd between D3S1263 and D3S1277 Muscular dystrophy, limb-girdle, type 1H (2)
3.91 10 23 15 3p25.1 COL6A4P1, DVWA, DIVA, LOC344875 P Collagen, type VI, alpha 4, pseudogene 1 612397 REc
3.92 8 21 07 3p25.1 DPH3, KTI11, ZCSL2, DELGIP1 P DPH3, S. cerevisiae, homolog of 608959 R, REc
3.93 4 15 09 3p24.3 OS6 P Osteoarthritis susceptibility 6 612401 Fd associated with rs11718863 and rs7639618 {Osteoarthritis susceptibility 6} (2)
3.94 2 4 15 3p24.3 SGOL1, SGO, SGO1, CAID P Shugoshin-like 1 609168 REc Chronic atrial and intestinal dysrhythmia, 616201 (3)
3.95 4 29 14 3p24.3 TBC1D5, KIAA0210 C TBC1 domain family, member 5 615740 REc, R
3.96 9 4 08 3p24.2 THRB, ERBA2, THR1, PRTH C Thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog-2) 190160 REa, A, RE, Fd Thyroid hormone resistance, 188570 (3); Thyroid hormone resistance, autosomal recessive, 274300 (3); Thyroid hormone resistance, selective pituitary, 145650 (3)
3.97 8 3 12 3p24.2 UBE2E1, UBCH6 P Ubiquitin-conjugating enzyme E2E 1 602916 REc
3.98 10 2 12 3p24.2 NR1D2, RVR, BD73 P Nuclear receptor subfamily 1, group D, member 2 602304 REc
3.99 8 31 06 3p24.2 OXSM, KS P 3-oxoacyl-ACP synthase, mitochondrial 610324 REc 14(Oxsm)
3.100 12 27 13 3p24.2 RPL15, DBA12 P Ribosomal protein L15 604174 REa, R, REc mutation identified in 1 family ?Diamond-Blackfan anemia 12, 615550 (3)
3.101 3 5 98 3p24.3 UBE2E2 P Ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5) 602163 A
3.102 1 2 08 3p24.2-p23 FEB9 P Febrile seizures, familial, 9 611634 Fd between D3S3727 and D3S3567 Febrile seizures, familial, 9 (2)
3.103 3 1 06 3p24.1 AZI2, AZ2, NAP1, TILP P 5-azacytidine-induced gene 2, mouse, homolog of 609916 REc
3.104 1 28 14 3p24-p23 GADL1 P Glutamate decarboxylase-like 1 615601 REc
3.105 7 11 17 3p24.1 TGFBR2, HNPCC6, AAT3, MFS2, LDS2 C Transforming growth factor, beta receptor II, 70-80kD 190182 A, REa, Fd Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3); Esophageal cancer, somatic, 133239 (3); Loeys-Dietz syndrome 2, 610168 (3) 9(Tgbfr2)
3.106 12 22 00 3p21.31 CELSR3, EGFL1, MEGF2 P Cadherin EGF LAG seven-pass G-type receptor 3 (epidermal growth factor-like 1) 604264 R
3.107 8 20 15 3p24 ATOD9 P Dermatitis, atopic, 9 613519 Fd max lod at D3S1768 {Dermatitis, atopic, susceptibility to, 9} (2)
3.108 12 30 98 3p24.3 CAF P CREBBP-associated factor 602303 A 17(Caf)
3.109 11 28 01 3p25.1 CAPN7, PALBH P Calpain 7 606400 R
3.110 10 17 00 3p22.3 CCR4, CKR4, CMKBR4 P Chemokine (C-C) receptor-4 604836 R, REc
3.111 4 17 13 3p24.1 CMC1, C3orf68 P Cytochrome C oxidase assembly mitochondrial protein 1, S. cerevisiae, homolog of 615166 REc
3.112 4 15 03 3p24.3 DAZL, DAZH, SPGYLA P Deleted in azoospermia-like 601486 A, R ?founding member of DAZ gene family {Spermatogenic failure, susceptibility to} (3)
3.113 6 9 15 3p24.2 NGLY1, PNG1, CDDG, CDG1V P N-glycanase 1 610661 R, REc Congenital disorder of deglycosylation, 615273 (3)
3.114 11 19 13 3p24.2 RARB, HAP, MCOPS12 C Retinoic acid receptor, beta polypeptide 180220 REa, A = HAP = HBV-activated protein Microphthalmia, syndromic 12, 615524 (3) 14(Rarb)
3.115 1 30 01 3p24.2 TOP2B P Topoisomerase (DNA) II, beta, 180kD 126431 REa, Fd
3.116 8 27 01 3p24.1 RBMS3 P RNA-binding motif protein, single strand-interacting, 3 605786 A
3.117 9 22 03 3p24-p22 HSN1B P Hereditary sensory neuropathy, type IB 608088 Fd max lod at D3S2338 Neuropathy, hereditary sensory, type IB (2)
3.118 8 18 98 3p24.3 RAB5A, RAB5 P RAS-associated protein RAB5A 179512 A
3.119 4 23 98 3p22.3-p22.2 STAC P SRC homology three (SH3) and cysteine-rich domain 602317 R, H 9(Stac)
3.120 3 14 06 3p24-p21 ASPG4 P Asperger syndrome, susceptibility to, 4 609954 Fd max lod at D3S2432 {Asperger syndrome susceptibility 4} (2)
3.121 6 9 98 3p24.3 SATB1 P Special AT-rich sequence binding protein-1 602075 A
3.122 1 14 14 3p23 STT3B, SIMP, CDG1X P STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 608605 REc mutation identified in 1 family ?Congenital disorder of glycosylation, type Ix, 615597 (3)
3.123 12 23 05 3p22.3 UBP1, LBP1A, LBP1B P Upstream binding protein 1 609784 R, REc
3.124 8 4 09 3p22.2 ACAA1 P Acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) 604054 REa, A
3.125 1 17 08 3p21.31 CDCP1, SIMA135 P CUB domain-containing protein 1 611735 A
3.126 1 11 89 3p23-p21 SCLC1 C Small-cell cancer of lung 182280 Ch, D centromeric to ERBA2 Small-cell cancer of lung (2)
3.127 6 16 99 3p21.31 SMARCC1, BAF155 P SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily C, member 1 601732 R, Psh
3.128 6 28 02 3p21.31 TDGF1 C Teratocarcinoma-derived growth factor-1 187395 REa, A Forebrain defects (3) 9(Tdgf1)
3.129 8 28 09 3p22.3 CLASP2 P CLIP-associated protein 2 605853 R, REc
3.130 12 5 11 3p22.3 CMTM6, CKLFSF6 P CKLF-like marvel transmembrane domain-containing 6 607889 REc 9(Cklfsf6)
3.131 12 5 11 3p22.3 CMTM7, CKLFSF7 P CKLF-like marvel transmembrane domain-containing 7 607890 REc 9(Cklfsf7)
3.132 12 5 11 3p22.3 CMTM8, CKLFSF8 P CKLF-like marvel transmembrane domain-containing 8 607891 REc 9(Cklfsf8)
3.133 12 21 09 3p22.2 DCLK3, DCK3, CLR P Doublecortin-like kinase 3 613167 REc 9(Dclk2)
3.134 7 17 14 3p22.3 DYNC1LI1, LIC1 P Dynein, cytoplasmic 1, light intermediate chain 1 615890 REc
3.135 8 28 09 3p22.3 FBXL2, FBL2 P F-box and leucine-rich repeat protein 2 605652 R, REc
3.136 2 11 08 3p22.3 GPD1L, KIAA0089 P Glycerol-3-phosphate dehydrogenase 1-like 611778 REc, Fd Brugada syndrome 2, 611777 (3)
3.137 9 16 03 3p22.3 PDCD6IP, AIP1, ALIX, KIAA1375 P Programmed cell death 6-interacting protein 608074 R
3.138 12 23 05 3p22.2 CMYA1, XIN P Cardiomyopathy-associated protein 1 609777 R, REc
3.139 2 2 14 3p22.2 DDH2 P Developmental dysplasia of the hip 2 615612 Fd between rs4481097 and rs4626072 Developmental dysplasia of the hip 2 (2)
3.140 9 8 11 3p22.2 LRRFIP2 P Leucine-rich repeat in FLII-interacting protein 2 614043 REc
3.141 3 23 09 3p22.2 MIR26A, MIRN26A1 P Micro RNA 26A1 612151 REc
3.142 12 4 13 3p22.2 SCN10A, FEPS2 C Sodium channel, voltage-gated, type X, alpha subunit 604427 Psh, REc Episodic pain syndrome, familial, 2, 615551 (3)
3.143 12 3 13 3p22.2 SCN11A, HSAN7, FEPS3 C Sodium channel, voltage-gated, type XI, alpha subunit 604385 R, REc Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3); Episodic pain syndrome, familial, 3, 615552 (3) 9(Scn11a)
3.144 8 25 11 3p22.1-p21.3 ANO10, TMEM16K, SCAR10 P Anoctamin 10 613726 REc Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)
3.145 7 14 17 3p22.1 CTNNB1, MRD19, EVR7 C Catenin (cadherin-associated protein), beta 1, 88kD 116806 A, REn, Psh, REc Mental retardation, autosomal dominant 19, 615075 (3); Colorectal cancer, somatic, 114500 (3); Pilomatricoma, somatic, 132600 (3); Ovarian cancer, somatic, 167000 (3); Hepatocellular carcinoma, somatic, 114550 (3); Medulloblastoma, somatic, 155255 (3); Exudative vitreoretinopathy 7, 617572 (3) 9(Catnb)
3.146 2 25 15 3p22.2 EPM2AIP1, KIAA0766 C EPM2A-interacting protein 1 607911 R, REc, H 9(Epm2aip1)
3.147 10 25 16 3p22.1 HHATL, MBOAT3, C3orf3, KIAA1173 P Hedgehog acyltransferase-like protein 608116 REc
3.148 8 2 13 3p22.1 KLHL40, SYRP, KBTBD5, NEM8 P Kelch-like 40 615340 REc Nemaline myopathy 8, autosomal recessive, 615348 (3)
3.149 2 21 14 3p22.1 NKTR P Natural tumor-killer recognition sequence 161565 REa, REc mouse gene close to Cck 9(Nktr)
3.150 3 21 14 3p22.1 POMGNT2, GTDC2, C3orf39, AGO61, MDDGA8 P Protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 2 614828 REc Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)
3.151 4 21 17 3p22.1 RPL14 C Ribosomal protein L14 617414 Psh, REc
3.152 7 14 14 3p22.1 SEC22C P Secretion deficient 22, S. cerevisiae, homolog of, C 604028 REc
3.153 3 17 16 3p22.1 SLC25A38, SIDBA2 P Solute carrier family 25, member 38 610819 REc Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3) 9(Slc25a38)
3.154 6 22 12 3p22.1 SNORA62, RNU108, RNE2 P Small nucleolar RNA, H/ACA box, 62 180646 REc
3.155 6 27 16 3p22.1 ULK4, FAM7C1 P Unc51-like kinase 4 617010 REc 9(Ulk4)
3.156 8 25 11 3p21.31 NBEAL2, KIAA0540, GPS, BDPLT4 P Neurobeachin-like 2 614169 REc Gray platelet syndrome, 139090 (3)
3.157 11 28 01 3p22.2 AXUD1 P Axin1 upregulated 606458 R
3.158 9 9 08 3p22.1 CCR8, CMKBR8, CMKBRL2, CKRL1 P Chemokine (C-C) receptor 8 601834 Psh
3.159 10 6 11 3p22.3 CRTAP, CASP, OI7 C Cartilage-associated protein 605497 A Osteogenesis imperfecta, type VII, 610682 (3) 9(Crtap)
3.160 10 4 12 3p22 HHV8S P Human herpesvirus 8, susceptibility to 614836 Fd {Human herpesvirus 8, susceptibility to} (2)
3.161 3 23 09 3p22.3 MIR128-2, MIR128B, MIRN128-2 P Micro RNA 128-2 611769 REc
3.162 1 29 01 3p24.1 SLC4A7, NBC2, NBC3 P Solute carrier family 4, sodium bicarbonate cotransporter, member 7 603353 A
3.163 5 9 95 3p22.1 VIPR1 P Vasoactive intestinal peptide receptor 1 192321 A incorrectly assigned to 2q37 9(Vipr1)
3.164 7 8 95 3p21.31 TGM4 P Transglutaminase-4, prostate 600585 A
3.165 11 13 07 3p22.2 ACVR2B, ACTRIIB, HTX4 C Activin A receptor, type IIB 602730 REc, A Heterotaxy, visceral, 4, autosomal, 613751 (3)
3.166 2 19 02 3p22.1 CYP8B1, CYP12 P Cytochrome P450, subfamily VIIIB, polypeptide 1 602172 A, R 9(Cyp8b1)
3.167 4 17 00 3p22.2 DLEC1, DLC1 P Deleted in lung and esophageal cancer 1 604050 REn Lung cancer, 211980 (1); Esophageal cancer, 133239 (1)
3.168 8 9 99 3p22.2 GOLGA4 P Golgi autoantigen, golgin subfamily a, 4 602509 REc
3.169 2 22 11 3p22.2 EXOG, ENDOGL1, ENGL P Endo/exonuclease, ENDOG-like 604051 A
3.170 9 18 12 3p22.2 MYD88, MYD88D P Myeloid differentiation primary response gene 88 602170 Psh Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3); Macroglobulinemia, Waldenstrom, somatic, 153600 (3) 9(Myd88)
3.171 8 9 99 3p22.2 OSR1 P Oxidative stress-responsive 1 604046 REn
3.172 8 25 11 3p22.2 PLCD1, NDNC3 P Phospholipase C, delta-1 602142 A Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)
3.173 8 5 97 3p21.31 TNA C Tetranectin (plasminogen-binding protein) 187520 Psh, R
3.174 8 9 99 3p22.2 XYLB P Xylulokinase, H. influenzae, homolog of 604049 REn
3.175 6 9 10 3p21.31 PTHR1, PTHR, PFE C Parathyroid hormone receptor-1 168468 REa, A, Psh Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3); Chondrodysplasia, Blomstrand type, 215045 (3); Eiken syndrome, 600002 (3); Failure of tooth eruption, primary, 125350 (3)
3.176 2 28 03 3p22.1 MOBP C Myelin-associated oligodendrocyte basic protein 600948 R, H 9(Mobp)
3.177 1 30 01 3p21.31 PFKFB4 P 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 605320 A
3.178 6 18 90 3p21.31 ZNF35, HF10 P Zinc finger protein-35 (HF.10) 194533 REa, A
3.179 2 2 11 3p22.3 GLB1, MPS4B C Galactosidase, beta-1 611458 S, EM, A 3p14.2-p11 excluded GM1-gangliosidosis, type I, 230500 (3); GM1-gangliosidosis, type II, 230600 (3); GM1-gangliosidosis, type III, 230650 (3); Mucopolysaccharidosis type IVB (Morquio), 253010 (3) 9(Bgl)
3.180 8 28 09 3p22.2 GORASP1, GOLPH5, GRASP65, P65 C Golgi reassembly stacking protein 1, 65kD 606867 R, A
3.181 5 12 09 3p22.1 LYZL4 P Lysozyme-like 4 612750 REc
3.182 10 5 17 3p21.31 TOPAZ1, C3orf77 P Testis- and ovary-specific PAZ domain protein 1 614412 REc 9(Topaz1)
3.183 7 31 08 3p22.2 WDR48, KIAA1449 P WD repeat-containing protein 48 612167 REc
3.184 2 14 08 3p22.1 MYRIP, SLAC2C P Myosin VIIA- and RAB-interacting protein 611790 REc
3.185 6 7 10 3p21.32 MIR138-1, MIRN138-1 P Micro RNA 138-1 613394 REc
3.186 12 18 08 3p21.31 ALS2CL P ALS2 C-terminal-like protein 612402 REc 9(Als2cl)
3.187 3 14 14 3p21.31 AMIGO3, ALI3 P Adhesion molecule with Ig-like domain 3 615691 REc
3.188 3 9 00 3p21.31 BSN, ZNF231 C Bassoon, mouse, homolog of 604020 A, R, Psh
3.189 1 9 13 3p21.31 CAMKV, 1G5 P CAM kinase-like vesicle-associated 614993 REc 9(Camkv)
3.190 12 19 17 3p21.31 DHX30, DDX30, RETCOR, KIAA0890, NEDMIAL C DEAH box polypeptide 30 616423 R, REc Neurodevelopmental disorder with severe motor impairment and absent language, 617804 (3)
3.191 3 7 13 3p21.31 ELP6, TMEM103, C3orf75 P Elongator acetyltransferase complex, subunit 6 615020 REc
3.192 6 1 12 3p21.31 EXOSC7, RRP42 P Exosome component 7 606488 REc
3.193 8 7 13 3p21.31 GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14 P GDP-mannose pyrophosphorylase B 615320 REc Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3)
3.194 8 28 09 3p21.31 IHPK1, IP6K1, KIAA0263 C Inositol hexaphosphate kinase 1 606991 R, Ch
3.195 2 25 15 3p21.31 KIF9 P Kinesin family member 9 607910 R, REc
3.196 7 13 17 3p21.31 KIF15, KLP2, KNSL7 P Kinesin family, member 15 617569 REc
3.197 11 24 14 3p21.31 KLHDC8B, CHL P Kelch domain-containing protein 8B 613169 A, REc {Hodgkin lymphoma, susceptibility to}, 236000 (3)
3.198 4 25 08 3p21.31 LTF C Lactotransferrin 150210 REa, A 9(Ltf)
3.199 3 29 13 3p21.31 MIR191 P Micro RNA 191 615150 REc
3.200 11 23 16 3p21.31 MIR4271 P Micro RNA 4271 617176 REc
3.201 8 27 15 3p21.31 MON1A, SAND1 P Mon1, S. cerevisiae, homolog of, A 611464 R, REc 6(Mon1a)
3.202 8 24 09 3p21.31 NDUFAF3 P NADH dehydrogenase 1 alpha subcomplex, assembly factor 3 612911 REc Mitochondrial complex I deficiency, 252010 (3)
3.203 4 25 12 3p21.31 P4HTM, PH4 P Prolyl 4-hydroxylase, transmembrane 614584 REc
3.204 2 25 15 3p21.31 PRSS50 P Protease, serine, 50 607950 REa, R
3.205 3 9 17 3p21.31 QRICH1 P Glutamine-rich protein 1 617387 REc
3.206 2 24 12 3p21.31 RNF123, KPC1 P Ring finger protein 123 614472 REc
3.207 10 30 06 3p21.31 SCAP P SREBP cleavage-activating protein 601510 R, REc
3.208 11 17 16 3p21.1 SELENOK, SELK, HSPC030 P Selenoprotein K 607916 REc
3.209 1 19 11 3p21.31 SLC25A20, CACT, CAC P Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (carnitine-acylcarnitine translocase) 613698 A pseudogene on 6p12 Carnitine-acylcarnitine translocase deficiency, 212138 (3)
3.210 7 14 14 3p21.31 TMA7, HSPC016 P Translation machinery-associated 7, S. cerevisiae, homolog of 615808 REc
3.211 2 5 16 3p21.31 TRAIP, TRIP, RNF206, SCKL9 C TRAF-interacting protein 605958 R, REc Seckel syndrome 9, 616777 (3)
3.212 6 16 99 3p21.31 USP4, UNP C Ubiquitin-specific protease-4 603486 A, H, REc 9(Unp)
3.213 2 24 12 3p21.31 USP19, KIAA0891 P Ubiquitin-specific protease 19 614471 REc
3.214 2 1 11 3p21.31 WDR6 P WD repeat-containing protein 6 606031 REc previously assigned to 15q21 by FISH
3.215 1 5 06 3p21.31 ZD1 P Zygodactyly 1 609815 Fd max lod at D3S2409 Zygodactyly 1 (2)
3.216 10 11 16 3p21.31 ZDHHC3, DHHC3, GODZ P Zinc finger DHHC domain-containing protein 3 617150 REc
3.217 8 11 15 3p22.1 ACKR2, CCBP2, CMKBR9, D6, CCR9, CCR10 C Atypical chemokine receptor 2 602648 R, A
3.218 11 19 11 3p21.1 BAP1, TPDS C BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 603089 A, R Tumor predisposition syndrome, 614327 (3)
3.219 7 2 02 3p21.31 CACNA2D2, KIAA0558 C Calcium channel, voltage-dependent, alpha-2/delta subunit 2 607082 R, REc
3.220 3 2 98 3p21.31 CAMP, FALL39 P Cathelicidin antimicrobial peptide 600474 A
3.221 12 19 11 3p21.2 CISH, BACTS2 P Cytokine inducible SH2-containing protein 602441 Ch {Tuberculosis, susceptibility to}, 607948 (3); {Malaria, susceptibility to}, 611162 (3); {Bacteremia, susceptibility to}, 614383 (3) 9(Cish)
3.222 9 9 08 3p21.31 CCR3, CKR3, CMKBR3 P Chemokine (C-C) receptor 3 601268 R, REc
3.223 9 9 08 3p21.31 CCR9 P Chemokine, CC motif, receptor 9 604738 R, A
3.224 12 2 14 3p21.31 COL7A1, NDNC8 C Collagen VII, alpha-1 polypeptide 120120 REa, A Epidermolysis bullosa dystrophica, AD, 131750 (3); Epidermolysis bullosa dystrophica, AR, 226600 (3); Epidermolysis bullosa, pretibial, 131850 (3); EBD, Bart type, 132000 (3); EBD, localisata variant (3); Transient bullous of the newborn, 131705 (3); Epidermolysis bullosa pruriginosa, 604129 (3); Toenail dystrophy, isolated, 607523 (3); EBD inversa, 226600 (3)
3.225 4 26 08 3p21.31 CYB561D2, 101F6 P Cytochrome b-561 domain containing 2 607068 REc
3.226 7 24 17 3p21.1 DNAH1, HL11, DNAHC1, HDHC7, SPGF18, CILD37 P Dynein, axonemal, heavy chain-1 603332 Psh, A mutation identified in 1 CILD37 family Spermatogenic failure 18, 617576 (3); ?Ciliary dyskinesia, primary, 37, 617577 (3) 14(Dnah1)
3.227 9 28 00 3p22.1 ENTPD3, CD39L3 P Ectonucleoside triphosphate diphosphohydrolase 3 603161 R, Psh
3.228 8 6 13 3p21.31 FYCO1, CATC2, CTRCT18 P FYVE and coiled-coil domain containing 1 607182 REc, Fd Cataract 18, autosomal recessive, 610019 (3)
3.229 6 27 02 3p21.31 FUS2 P FUS2 gene 607073 REc
3.230 8 25 11 3p21.31 GPX1, GPXD C Glutathione peroxidase-1 138320 S, REa, Psh, A ?pseudogene on 3p11-p12 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
3.231 6 16 99 3p21.31 HYAL2, LUCA2 P Hyaluronoglucosaminidase 2 603551 REc, H 9(Hyal2)
3.232 8 31 99 3p21.31 HYAL3, LUCA3 P Hyaluronoglucosaminidase 3 604038 REn
3.233 9 9 08 3p21.3 IBD12 P Inflammatory bowel disease 12 612241 Fd {Inflammatory bowel disease 12} (2)
3.234 9 28 98 3p21.31 IFRD2 P Interferon-related developmental regulator-2 602725 REc
3.235 3 9 00 3p22.2 ITGA9 P Integrin, alpha-9 603963 REn
3.236 7 22 16 3p21.31 LARS2, PRLTS4, HLASA P Leucyl-tRNA synthetase, mitochondrial 604544 REc mutation identified in 1 HLASA patient Perrault syndrome 4, 615300 (3); ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
3.237 2 22 00 3p21.31 LIMD1 P LIM domain-containing protein 1 604543 REc 9(Limd1)
3.238 9 11 02 3p21.31 LRRC2 P Leucine-rich repeat-containing 2 607180 REc
3.239 10 16 14 3p21.31 LZTFL1, BBS17 P Leucine zipper transcription factor-like 1 606568 REc Bardet-Biedl syndrome 17, 615994 (3) 9(Lztfl1)
3.240 9 16 16 3p21.2 MAPKAP3, 3PK, MDPT3 P Mitogen-activated protein kinase-activated protein kinase-3 602130 REc mutation identified in 1 MDPT3 family ?Macular dystrophy, patterned, 3, 617111 (3)
3.241 12 28 08 3q21.3 MGLL, MGL, HUK5 C Monoglyceride lipase 609699 REc, H, R 6(Mgll)
3.242 1 16 08 3p22.2 MLH1, COCA2, HNPCC2 C mutL, E. coli, homolog of, 1 120436 Fd, A Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3); Mismatch repair cancer syndrome, 276300 (3); Muir-Torre syndrome, 158320 (3)
3.243 4 25 08 3p21.31 NME6 P Nonmetastatic cells 6, protein expressed in 608294 R
3.244 8 22 16 3p21.31 MST1R, RON, NPCA3 P Macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 600168 A {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
3.245 9 22 16 3p21.31 NPR2L, NPRL2, FFEVF2 P Npr2, S. cerevisiae, homolog of 607072 REc Epilepsy, familial focal, with variable foci 2, 617116 (3)
3.246 1 3 02 3p21.31 PTPN23, KIAA1471, HDPTP P Protein-tyrosine phosphatase, nonreceptor-type, 23 606584 R, REc
3.247 2 12 07 3p21.31 RASSF1 C RAS association domain family protein 1 605082 D, REc epigenetically inactivated Lung cancer, 211980 (2)
3.248 8 3 12 3p21.31 RHOA, ARHA, ARH12, RHOH12 C Ras homolog gene family, member A (oncogene RHO H12) 165390 A, Psh
3.249 4 29 02 3p21.31 RMB5, LUCA15 P RNA-binding motif protein 5 606884 REc
3.250 4 29 02 3p21.31 RBM6, DEF3 P RNA-binding motif protein 6 606886 REc 9(Rbm6)
3.251 10 12 14 3p22.1 RPSA, LAMR1, LAMBR, ICAS P Ribosomal protein SA 150370 A Asplenia, isolated congenital, 271400 (3) 9(Lamr1)
3.252 4 30 09 3p21.31 RTP3, TMEM7 P Receptor-transporting protein 3 607181 REc
3.253 1 14 02 3p21.31 SACM1L, SAC1, KIAA0851 P SAC1 suppressor of actin mutations 1-like 606569 REc
3.254 3 15 96 3p21.31 SEMA3F, SEMA4 P Semaphorin III/F 601124 REc
3.255 7 8 96 3p21.31 SEMA5 P Semaphorin A(V) 601281 REc
3.256 2 2 17 3p21.31 SHISA5, SCOTIN P Shisa family, member 5 607290 REc pseudogene on Xq13.1-q13.3
3.257 4 20 10 3p21.31 SLC6A20, XT3 P X transporter protein 3 605616 REc Hyperglycinuria, 138500 (3); Iminoglycinuria, digenic, 242600 (3) 9(Xt3)
3.258 5 2 06 3p21.31 SLC26A6 P Solute carrier family 26 (anion transporter), member 6 610068 REc
3.259 6 27 02 3p21.31 SLC38A3, SN1, G17 P Solute carrier family 38, member 3 604437 REc
3.260 12 27 01 3p21.2 TLR9 P Toll-like receptor 9 605474 REc
3.261 11 11 14 3p21.31 TMEM115, PL6 P Transmembrane protein 115 607069 REc
3.262 3 9 98 3p21.3 TRR P Transfer RNA arginine 601994 REc, A
3.263 3 18 08 3p21.31 UCN2, SRP, UR P Urocortin II 605902 REc
3.264 4 4 05 3p21.31 FUS1 P FUS1 gene 607052 REc
3.265 2 28 94 3p21.31 UQCRC1 P Ubiquinol-cytochrome c reductase core protein I 191328 REn close upstream of COL7A1
3.266 10 15 13 3p21.31 ZMYND10, BLU P Zinc finger MYND domain-containing protein 10 607070 REc Ciliary dyskinesia, primary, 22, 615444 (3)
3.267 6 1 07 3p21.31 ATRIP C ATR-interacting protein 606605 REc
3.268 3 8 00 3p24.1 EOMES, TBR2 P Eomesodermin, Xenopus laevis, homolog of 604615 R ?translocation separating regulatory element from promoter 9(Tbr2)
3.269 2 11 15 3p21.31 HYAL1, MPS9 C Hyaluronoglucosaminidase 1 607071 A mutation identified in 1 MPS9 patient ?Mucopolysaccharidosis type IX, 601492 (3) 9(Hyal1)
3.270 6 16 99 3p21.31 PRKAR2A C Protein kinase, cAMP-dependent, regulatory, type II, alpha 176910 REa, Psh
3.271 2 23 16 3p21.31 SETD2, SET2, HYPB, HBP231, KIAA1732, LLS P SET domain-containing protein 2 612778 A, REc Luscan-Lumish syndrome, 616831 (3)
3.272 7 14 09 3p21.31 TREX1, AGS1, CRV, HERNS C 3' repair exonuclease 1 606609 REc, Fd Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3); Chilblain lupus, 610448 (3); Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3); {Systemic lupus erythematosus, susceptibility to}, 152700 (3)
3.273 4 19 06 3p21.2 PARP3, ADPRTL3 C Poly(ADP-ribose) polymerase 3 607726 REc, A, H 9(Adprtl3)
3.274 8 28 02 3p21.31 XCR1, CCXCR1, GPR5 P Chemokine, C motif, receptor 1 (G protein-coupled receptor-5) 600552 A
3.275 2 22 10 3p21.1 TNNC1, CMD1Z, CMH13 C Troponin-C1, slow 191040 Psh, REa, R Cardiomyopathy, dilated, 1Z, 611879 (3); Cardiomyopathy, hypertrophic, 13, 613243 (3) 7(Tnnc1)
3.276 12 19 16 3p21.2 DCAF1, RIP, VPRBP, KIAA0800 P DDB1- and CUL4-associated factor 1 617259 R, REc
3.277 2 23 09 3p21.31 IMPDH2, IMPD2 C Inosine-5'-monophosphate dehydrogenase, type II 146691 Psh, A [IMPDH2 enzyme activity, variation in] (3)
3.278 9 23 13 3p21.2 PCBP4, MGC10 P Poly(rC)-binding protein 4 608503 REc, A 9(Pcbp4)
3.279 9 10 12 3p21.2 POC1A, PIX2, SOFT P POC1 centriolar protein, Chlamydomonas, homolog of, A 614783 REc Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)
3.280 3 14 06 3p21.2 PPM1M, PP2CE P Protein phosphatase 1M (protein phosphatase 2C, eta isoform) 608979 R, REc
3.281 6 21 01 3p21.31 AMT, NKH, GCE P Aminomethyltransferase (glycine cleavage system protein T) 238310 REa Glycine encephalopathy, 605899 (3)
3.282 4 8 02 3p21.2 GRM2, MGLUR2 C Glutamate receptor, metabotropic, 2 604099 Psh, R
3.283 10 2 09 3p14.3 HESX1, RPX, CPHD5 P Homeo box gene expressed in ES cells 601802 A Septooptic dysplasia, 182230 (3); Pituitary hormone deficiency, combined, 5, 182230 (3); Growth hormone deficiency with pituitary anomalies, 182230 (3) 14(Hesx1)
3.284 10 6 92 3p21.1 ITIH1 C Inter-alpha (globulin) inhibitor, H1 polypeptide 147270 A, H 14(Intin1)
3.285 10 6 92 3p21.1 ITIH3 C Inter-alpha (globulin) inhibitor, H3 polypeptide 146650 A, H 14(Intin3)
3.286 2 7 06 3p14.3 SPATA12, SRG5 P Spermatogenesis-associated protein 12 609869 REc
3.287 6 19 98 3p14.3 SLAP P Sarcolemmal-associated protein 602701 A
3.288 5 27 05 3p21.1 ITIH4, PK120, ITIHL1 P Inter-alpha (globulin) inhibitor, H4 polypeptide 600564 A {Hypercholesterolemia, susceptibility to}, 143890 (3) 14(Itih4)
3.289 2 24 06 3p21.2 ACY1, ACY1D C Aminoacylase-1 104620 S, REa, REn Aminoacylase 1 deficiency, 609924 (3) 9(Acy)
3.290 7 8 95 3p21.2 ALAS1 C Aminolevulinate, delta-, synthase-1 125290 REa, A, R, Psh
3.291 7 16 09 3p21.2 ARMET, ARP P Arginine-rich protein, mutated in early stage tumors 601916 REc, D
3.292 11 1 13 3p21.1 CACNA1D, CACNL1A2, CCHL1A2, SANDD, PASNA C Calcium channel, voltage-dependent, L type, alpha 1D subunit 114206 REa, H, REc Sinoatrial node dysfunction and deafness, 614896 (3); Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3) 14(Cch1a2)
3.293 11 28 01 3p21.1-p14.3 CACNA2D3 P Calcium channel, voltage-dependent, alpha-2/delta subunit 3 606399 REc
3.294 8 28 09 3p14.2 CADPS, CAPS P Ca(2+)-dependent activator protein for secretion 604667 Psh, REc
3.295 3 20 06 3p21.1 DCP1A, SMIF C Decapping enzyme 1, X. cerevisiae, homolog of, A 607010 R, REc
3.296 2 21 06 3p14.3 DNAH12, DNAHC3, HL19 P Dynein, heavy chain-5 603340 REa, REc
3.297 4 26 10 3p14.3-p14.2 FAM107A, DRR1, TU3A C Family with sequence similarity 107, member A (downregulated in renal cell carcinoma 1) 608295 REc, A
3.298 4 19 05 3p21.1 GNL3, NS, E2IG3 P Guanine nucleotide-binding protein-like 3 608011 R, REc
3.299 5 13 02 3p21.2 GPR62 P G protein-coupled receptor 62 606917 REc
3.300 1 29 01 3p21.1 IL17RB, IL17BR, IL17RH1 P Interleukin 17, receptor B 605458 R
3.301 10 13 09 3p21.2 MIRLET7G, LET7G, MIRNLET7G P Micro RNA Let7G 612102 REc
3.302 11 23 16 3p21.1 MUSTN1, MUSTANG P Musculoskeletal embryonic nuclear protein 1 617195 REc
3.303 5 24 02 3p21.1 NEK4, STK2, NRK2 P NIMA (never in mitosis gene a)-related kinase 4 (serine/threonine protein kinase-2) 601959 REa
3.304 11 22 13 3p21.1 NISCH, IRAS, KIAA0975 P Nischarin 615507 REc
3.305 9 28 12 3p13 PROK2, PK2, BV8, HH4 C Prokineticin 2 607002 R Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3) 6(Prok2)
3.306 2 17 09 3p21.2 RBM15B, OTT3, HUMAGCGB P RNA-binding motif protein 15B 612602 REc
3.307 5 15 08 3p21.1 RFT1, CDG1N C RFT1, S. cerevisiae, homolog of 611908 REc Congenital disorder of glycosylation, type In, 612015 (3)
3.308 9 9 13 3p21.1 SFMBT1, RU1 P SCM-like protein with 4 MBT domains 1 607319 REc
3.309 8 19 13 3p21.1 SPCS1, SPC12 P Signal peptidase complex, subunit 1, S. cerevisiae, homolog of 610358 R, REc
3.310 11 23 16 3p21.1 TMEM110, STIMATE P Transmembrane protein 110 617189 REc
3.311 8 28 09 3p21.2 TWF2, PTK9L, A6RP P Twinfilin, actin-binding protein, Drosophila, homolog of, 2 607433 R, REc
3.312 9 9 10 3p21.2 WDR82, TMEM113 P WD repeat-containing protein 82 611059 R, REc
3.313 8 11 15 3p14.3 APPL1, APPL, MODY14 P Adaptor protein containing PH domain, PTB domain, and leucine zipper motif 1 604299 A {Maturity-onset diabetes of the young, type 14}, 616511 (3)
3.314 1 18 12 3p14.3 DNASE1L3, SLEB16 P Deoxyribonuclease I-like 3 602244 A, R Systemic lupus erythematosus 16, 614420 (3)
3.315 1 14 02 3p21.33 ABHD5, CGI58, IECN2, NCIE2 C Abhydrolase domain containing 5 604780 Fd, REc Chanarin-Dorfman syndrome, 275630 (3)
3.316 6 7 94 3p21.31 APEH, D3S48E C N-acylaminoacyl-peptide hydrolase 102645 REa, A, D
3.317 8 28 09 3p21.31 ARIH2, ARI2, TRIAD1 P Ariadne, Drosophila, homolog of, 2 605615 R, REc
3.318 11 4 93 3p21.31 CDC25A P Cell division cycle 25A 116947 REa, Psh, A
3.319 5 28 08 3p21 CELIAC9 P Celiac disease, susceptibility to, 9 612007 Fd associated with rs6441961 {Celiac disease, susceptibility to, 9} (2)
3.320 9 9 08 3p21.31 CCR1, CMKBR1, CKR1, HM145 P Chemokine (C-C) receptor 1 601159 A 9(Cmkbr1)
3.321 9 8 08 3p21.31 CCR2, CMKBR2 C Chemokine (C-C) receptor 2 601267 REn {HIV infection, susceptibility/resistance to} (3)
3.322 1 27 04 3p21.31 CCRL2 P Chemokine, CC motif, receptor-like protein 2 608379 REc
3.323 1 13 09 3p21.31 CCR5, CMKBR5, CCCKR5, IDDM22 C Chemokine (C-C) receptor 5 601373 REc, R {HIV infection, susceptibility/resistance to} (3); {West nile virus, susceptibility to}, 610379 (3); {Hepatitis C virus, resistance to}, 609532 (3); {Diabetes mellitus, insulin-dependent, 22}, 612522 (3)
3.324 9 9 08 3p21.31 CXCR6, STRL33, BONZO P Chemokine, CXC motif, receptor 6 605163 REa, Psh
3.325 9 4 15 3p21.31 DAG1, DAG, MDDGC9, MDDGA9 P Dystrophin-associated glycoprotein-1 128239 REa, A Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3) 9(Dag1)
3.326 11 20 98 3p21.2 DUSP7, MKPX, PYST2 P Dual-specificity phosphatase-7 602749 Psh, A 9(Dusp7)
3.327 9 9 08 3p21.31 FBXW12, FBW12, FBXO35, FBXO12 P F-box and WD40 domain protein 12 609075 REc
3.328 4 15 11 3p21.2 GLYCTK, GLYCTK1 P Glycerate kinase 610516 REc D-glyceric aciduria, 220120 (3)
3.329 8 10 98 3p21.31 GNAI2, GNAI2B, GIP C Guanine nucleotide-binding protein (G protein), alpha-inhibiting activity polypeptide-2 139360 REa, A on 12p13-p12, GNAI2L Pituitary ACTH-secreting adenoma (3); Ventricular tachycardia, idiopathic, 192605 (3) 9(Gnai2)
3.330 2 8 18 3p21.31 GNAT1, CSNBAD3, CSNB1G C Guanine nucleotide-binding protein (G protein), alpha-transducing (transducin) activity polypeptide-1 139330 REa, A Night blindness, congenital stationary, autosomal dominant 3, 610444 (3); Night blindness, congenital stationary, type 1G, 616389 (3) 9(Gnat1)
3.331 1 25 11 3p21 HSCR6 P Hirschsprung disease, susceptibility to, 6 606874 Fd {Hirschsprung disease, susceptibility to, 6} (2)
3.332 9 30 02 3p21.31 IHPK2, IP6K2 P Inositol hexaphosphate kinase 2 606992 REc
3.333 9 6 11 3p21.31 LAMB2, LAMS, NPHS5 C Laminin, beta-2 (laminin S) 150325 REa, A Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3); Pierson syndrome, 609049 (3)
3.334 5 9 97 3p21.31 MAP4 P Microtubule-associated protein 4 157132 A 9(Map4)
3.335 8 27 92 3p21.31 MST1, HGFL P Macrophage-stimulating-1 (hepatocyte growth factor-like) 142408 REn, H 9(Hgfl)
3.336 7 16 09 3p21.31 NCKIPSD, AF3P21, SPIN90 P NCK-interacting protein with SH3 domain 606671 Ch
3.337 10 13 09 3p21.31 NICN1 P Nicolin 1 611516 REc processed pseudogene on X 9(Nicn1)
3.338 7 13 09 3p21.1 PBRM1, PB1, BAF180 P Polybromo 1, chicken, homolog of 606083 R, REc
3.339 4 15 11 3p21 PSC P Cholangitis, primary sclerosing 613806 Fd Cholangitis, primary sclerosing (2)
3.340 4 29 14 3p21.31 QARS, GLNRS, MSCCA P Glutaminyl-tRNA synthetase 603727 REa, REc Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)
3.341 9 24 09 3p22.2 SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 C Sodium channel, voltage-gated, type V, alpha polypeptide 600163 Fd, A Long QT syndrome-3, 603830 (3); Brugada syndrome 1, 601144 (3); Heart block, progressive, type IA, 113900 (3); Heart block, nonprogressive, 113900 (3); Ventricular fibrillation, familial, 1, 603829 (3); Sick sinus syndrome 1, 608567 (3); Cardiomyopathy, dilated, 1E, 601154 (3); {Sudden infant death syndrome, susceptibility to}, 272120 (3); Atrial fibrillation, familial, 10, 614022 (3)
3.342 5 12 09 3p22.1 SNRK, KIAA0096 P SNF-related kinase 612760 REc
3.343 1 11 07 3p22.1 SS18L2 P SS18-like gene 2 606473 A
3.344 12 17 15 3p21.31 ZNF589, SZF1 P Zinc finger protein 589 616702 A
3.345 12 7 95 3p21.31 TCTA P T-cell leukemia translocation altered gene 600690 Ch
3.346 12 11 02 3p21.31 TMIE, DFNB6 C Transmembrane inner ear-expressed gene 607237 Fd, H Deafness, autosomal recessive 6, 600971 (3) ?9(sr)
3.347 1 6 14 3p21.31 UBE7, UBE1L P Ubiquitin-activating enzyme-7 191325 RE
3.348 1 30 01 3p13 GPR27, SREB1 P G protein-coupled receptor 27 605187 R
3.349 11 8 94 3p25.3 HRH1 P Histamine receptor, subclass H1 600167 REa, A 6(Hrh1)
3.350 8 25 11 3p14.3 WNT5A P Wingless-type MMTV integration site family, member 5A 164975 Psh, A Robinow syndrome, autosomal dominant 1, 180700 (3)
3.351 3 14 96 3p14.1 TMF1 P TATA element modulatory factor 1 601126 A
3.352 6 30 08 3p14.3 ARHGEF3, XPLN P RHO guanine nucleotide exchange factor 3 612115 A
3.353 3 11 09 3p21-p13 MPVQTL2 P Mean platelet volume quantitative trait locus 2 612574 Fd associated with rs12485738 [Mean platelet volume QTL2] (2)
3.354 12 22 14 3q22.3 A4GNT P Alpha-1,4-N-acetylglucosaminyltransferase 616709 R
3.355 6 2 16 3p14.3 ADHB6 P Abhydrolase domain-containing protein 6 616966 REc
3.356 2 27 17 3p14.3 ACOX2, BRCACOX, CBAS6 C Acyl-Coenzyme A oxidase 2, branched chain 601641 A, Psh Bile acid synthesis defect, congenital, 6, 617308 (3)
3.357 12 15 16 3p14.3 ERC2, CAST, KIAA0378 P ELKS/RAB6-interacting/CAST family, member 2 617250 Psh, REc
3.358 7 29 15 3p14.3 FAM208A, RAP140, C3orf63, KIAA1105 C Family with sequence similarity 208, member A 616493 REc, R
3.359 1 31 12 3p14.3 FLNB, SCT, AOI, LRS1 C Filamin B 603381 REa, REc, A, R, Fd Spondylocarpotarsal synostosis syndrome, 272460 (3); Larsen syndrome, 150250 (3); Atelosteogenesis, type I, 108720 (3); Atelosteogenesis, type III, 108721 (3); Boomerang dysplasia, 112310 (3)
3.360 7 11 11 3p14.3 HESRG P Embryonic stem cell-related protein 611473 REc
3.361 3 17 08 3p14.3 PXK, MONAKA P PXK domain-containing serine/threonine kinase 611450 REc
3.362 9 23 13 3p14.3 RPP14 P Ribonuclease P, 14kD subunit 606112 REc
3.363 2 12 16 3p14.1 SLC25A26, SAMC, COXPD28 P Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26 611037 REc Combined oxidative phosphorylation deficiency 28, 616794 (3)
3.364 7 22 16 3p21.1 TKT, SDDHD P Transketolase 606781 REa, A Short stature, developmental delay, and congenital heart defects, 617044 (3)
3.365 1 29 01 3p14.1 ADAMTS9 P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 9 605421 A, Psh
3.366 6 11 13 3p14.3 IL17RD, SEF, HH18 P Interleukin 17, receptor D (Sef, zebrafish, homolog of) 606807 REc Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)
3.367 5 28 13 3p14.2 FAM3D P Family with sequence similarity 3, member D 608619 REc, R
3.368 8 5 02 3p14.2 FRA3B, FHIT C Fragile histidine triad gene 601153 REf, H deleted in RCC 14(Fhit, Fra14A2)
3.369 3 22 93 3p14.2 PTPRG, PTPG C Protein tyrosine phosphatase, receptor type, gamma polypeptide 176886 REa, A, Fd
3.370 6 1 09 3p14.2 FEZF2, ZNF312, FEZL, TOF P FEZ family zinc finger 2 607414 REc
3.371 1 11 18 3p14.2 SNTN, S100AL, S100A1L P Sentan, cilia apical structural protein 617832 REc
3.372 1 22 04 3p14.3 ARF4, ARF2 P ADP-ribosylation factor 4 601177 REc, R
3.373 2 15 12 3p14.1 ATXN7, SCA7, OPCA3 C Ataxin 7 607640 Fd, REc Spinocerebellar ataxia 7, 164500 (3)
3.374 2 15 12 3p14.1 ATXN7AS1, SCAANT1 P ATXN7 antisense noncoding transcript 1 614481 REc
3.375 7 12 13 3p14.1 EOGT, EOGT1, C3orf64, AOS4 P EGF domain-specific O-linked N-acetylglucosamine transferase 614789 REc Adams-Oliver syndrome 4, 615297 (3)
3.376 5 30 17 3p14.1 FAM19A1, TAFA1 P Family with sequence similarity 19, member A1, CC motif chemokine-like 617495 REc
3.377 5 30 17 3p14.1 FAM19A4, TAFA4 P Family with sequence similarity 19, member A4, CC motif chemokine-like 617498 REc
3.378 4 24 15 3p13 FOXP1, QRF1 P Forkhead box P1 605515 REc Mental retardation with language impairment and with or without autistic features, 613670 (3)
3.379 4 26 17 3p14.1 FRMD4B, GRSP1, KIAA1013 P FERM domain-containing protein 4B 617467 REc
3.380 10 23 15 3p14.1 KBTBD8, TAKRP, KIAA1842 P KELCH repeat- and BTB/POZ domain-containing protein 8 616607 REc
3.381 1 5 15 3p14.1 LMOD3, NEM10 P Leiomodin 3 616112 REc Nemaline myopathy 10, 616165 (3)
3.382 3 3 09 3p14.1 MAGI1, BAIAP1, WWP3, TNRC19 P Membrane-associated guanylate kinase, WW and PDZ domains-containing, 1 602625 A
3.383 1 30 18 3p14.1 PSMD6, KIAA0107 C Proteasome 26S subunit, non-ATPase, 6 617857 Psh, REc
3.384 5 25 13 3p14.1 SUCLG2 P Succinate-CoA ligase, GDP-forming, beta subunit 603922 REc
3.385 4 23 08 3p14.1 THOC7, NIF3L1BP1 P THO complex, subunit 7 611965 R, REc
3.386 4 23 07 3p14.1-q12.3 HYT7 P Hypertension, essential, susceptibility to, 7 610948 Fd {Hypertension, essential, susceptibility to, 7} (2)
3.387 1 26 17 3p13 MITF, WS2A, CMM8, COMMAD C Microphthalmia-associated transcription factor 156845 REa, A, Fd Waardenburg syndrome, type 2A, 193510 (3); Waardenburg syndrome/ocular albinism, digenic, 103470 (3); Tietz albinism-deafness syndrome, 103500 (3); {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3); COMMAD syndrome, 617306 (3) 6(mi)
3.388 1 12 11 3p14.1 ARL6IP5 P ADP-ribosylation-like factor 6-interacting protein 5 605709 REc
3.389 2 16 04 3p21.2 DOCK3 C Dedicator of cytokinesis 3 603123 R, Ch
3.390 2 21 06 3p13 EIF4E3 P Eukaryotic translation initiation factor 4E family, member 3 609896 R, REc
3.391 2 25 09 3p14.1 LRIG1, LIG1 C Leucine-rich repeats- and immunoglobulin-like domains-containing protein 1 608868 A, H 6(Lrig1)
3.392 3 25 16 3p14.1 PRICKLE2 P Prickle-like 2 608501 REc
3.393 3 3 10 3p13 EBLN2 P Endogenous Borna-like N element-containing protein 2 613250 REc
3.394 4 20 04 3p14-q13 KTCN3 P Keratoconus 3 608586 Fd Keratoconus 3 (2)
3.395 3 27 17 3q13.31 ATP6V1A1, HO68, ARCL2D P ATPase, H+ transporting, lysosomal alpha polypeptide, 70-kD, isoform 1 607027 R, REc Cutis laxa, autosomal recessive, type IID, 617403 (3)
3.396 3 29 10 3p13 GXYLT2, GLT8D4 P Glucoside xylosyltransferase 2 613322 REc
3.397 12 28 08 3p13 PDZRN3, KIAA1095 P PDZ domain-containing ring finger protein 3 609729 REc
3.398 4 7 11 3p13 PPP4R2, PP4R2 P Protein phosphatase 4, regulatory subunit 2 613822 REc
3.399 8 30 09 3p13 RYBP, YEAF1 P Ring1- and YY1-binding protein 607535 R, REc
3.400 4 6 16 3p13 SAMMSON, LINC01212 P Survival-associated mitochondrial melanoma-specific oncogenic noncoding RNA 616895 REc
3.401 12 14 10 3p13 SHQ1 P Shq1, S. cerevisiae, homolog of 613663 REc
3.402 7 22 11 3p14.3 PDHB, PDHBD P Pyruvate dehydrogenase, E1 beta polypeptide 179060 REa Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
3.403 3 29 07 3p12.3 ROBO2, SAX3, KIAA1568 P Roundabout, Drosophila, homolog of, 2 602431 REc Vesicoureteral reflux 2, 610878 (3) 16(Robo2)
3.404 6 28 17 3p12.1 CADM2, IGSF4D, SYNCAM2, NECL3 P Cell adhesion molecule 2 609938 REc 16(Igsf4d)
3.405 9 21 12 3p12.2 GBE1, GSD4, APBD P Glycogen branching enzyme 607839 REa Glycogen storage disease IV, 232500 (3); Polyglucosan body disease, adult form, 263570 (3)
3.406 8 4 98 3p11.2-p11.1 HTR1F, HTR1EL, MR77 P 5-hydroxytryptamine receptor 1F 182134 R, A, Psh
3.407 9 11 02 3p12.3 ROBO1, DUTT1, SAX3 P Roundabout, Drosophila, homolog of, 1 602430 REc, D
3.408 1 24 04 3p11.1 CGGBP1 C CGG triplet repeat binding protein 1 603363 REc, REa, A
3.409 9 28 10 3q11.2 ARL6, BBS3, RP55 C ADP-ribosylation factor-like 6 608845 Fd, REc mutation identified in 1 RPS55 family Bardet-Biedl syndrome 3, 600151 (3); {Bardet-Biedl syndrome 1, modifier of}, 209900 (3); ?Retinitis pigmentosa 55, 613575 (3)
3.410 4 30 02 3p12-q13 DYX5 P Dyslexia, susceptibility to, 5 606896 Fd ?same locus as SSD {Dyslexia, susceptibility to, 5} (2)
3.411 4 6 18 3q13.12-q13.13 IFT57, ESRRBL1, HIPPI, OFD18 C Intraflagellar transport 57, chlamydomonas, homolog of (HIP1 protein interactor) 606621 R, REc mutation identified in 1 OFD18 family ?Orofaciodigital syndrome XVIII, 617927 (3)
3.412 2 10 04 3p12-q13 SSD P Speech-sound disorder 608445 Fd ?same locus as DYX5 {Speech-sound disorder} (2)
3.413 1 25 11 3p12-q13.2 PBC1 P Biliary cirrhosis, primary, 1 109720 Fd associated with rs6441286 Biliary cirrhosis, primary, 1 (2)
3.414 5 3 93 3q25.33 IL12A P Interleukin-12A (natural killer cell stimulatory factor-1, cytotoxic lymphocyte maturation factor-1, p35) 161560 REa, Psh
3.415 7 11 93 3q13.31 ZNF80 P Zinc finger protein-80 (pT17) 194553 REa
3.416 7 18 12 3p11.2 CHMP2B, DMT1, VPS2B, ALS17 C CHMP family, member 2B 609512 Fd, REc Dementia, familial, nonspecific, 600795 (3); Amyotrophic lateral sclerosis 17, 614696 (3)
3.417 8 18 98 3p11.1 EPHA3, ETK1, HEK P Ephrin receptor EphA3 (human embryo kinase 1) 179611 REa, A
3.418 10 2 09 3p11.2 POU1F1, PIT1, CPHD1 C POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1) 173110 Fd, A Pituitary hormone deficiency, combined, 1, 613038 (3) 16(Pit1,dw)
3.419 9 11 02 3p CRCL P Creatinine clearance QTL 607135 Fd in African Americans Creatinine clearance QTL (2)
3.420 8 25 04 3p21.31 MYL3, CMH8 C Myosin, light polypeptide-3, alkali; ventricular, skeletal, slow 160790 REa, H Cardiomyopathy, hypertrophic, 8, 608751 (3) 9(Mylc)
3.421 11 24 14 3p21.1 PRKCD, CVID9, ALPS3 P Protein kinase C, delta 176977 REa, H mutation identified in 1 family Autoimmune lymphoproliferative syndrome, type III, 615559 (3) 14(Pkcd)
3.422 9 8 11 3cen-q13 ERVK-5, HERV-KII P Endogenous retrovirus group K, member 5 614012 R, REc
3.423 9 18 00 3q13.33 COX17 P Cytochrome c oxidase assembly protein COX17 604813 R pseudogene on chr. 13?
3.424 10 20 99 3q12.3 RPL24 P Ribosomal protein L24 604180 REa, R
3.425 5 1 91 3q21.3 RPN1 C Ribophorin I 180470 REa, Ch 6(Rpn1)
3.426 10 7 14 3q12.2 TFG, HMSNP, SPG57 P TRK-fused gene 602498 A fused with NR4A3 or NTRK1; mutation identified in 1 SPG57 family Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3); ?Spastic paraplegia 57, autosomal recessive, 615658 (3)
3.427 11 19 09 3q11.1-q11.2 ARL13B, ARL2L1, JBTS8 C ADP-ribosylation factor-like 13B 608922 REc Joubert syndrome 8, 612291 (3)
3.428 10 13 15 3q11.2 DHFRL1 P Dihydrofolate reductase-like 1 616588 REc
3.429 5 25 13 3q11.2 EPHA6, HEK12, EHK2 P Ephrin receptor EphA6 600066 REc
3.430 12 30 14 3q12.3 IMPG2, IPM200, RP56, VMD5 P Interphotoreceptor matrix proteoglycan 2 607056 R, A Retinitis pigmentosa 56, 613581 (3); Macular dystrophy, vitelliform, 5, 616152 (3)
3.431 5 30 17 3q11.2 NSUN3 P NOP2/SUN RNA methyltransferase family, member 3 617491 REc
3.432 3 1 12 3q11.1 PROS1, THPH5, THPH6 C Protein S, alpha 176880 REa, REc pseudogene PROSP contiguous on chr.3 Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3); Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
3.433 4 1 96 3q11.2 GPR15 P G protein-coupled receptor-15 601166 A
3.434 3 16 10 3q11.2-q13.12 CAMPD1 P Camptodactyly 1 114200 Fd between D3S2465 and D3S3044 Camptodactyly 1 (2)
3.435 4 30 09 3q11.2 CPOX P Coproporphyrinogen oxidase 612732 REa, A Coproporphyria, 121300 (3); Harderoporphyria, 121300 (3)
3.436 9 27 01 3q12.2 TARSH P Target of Nesh-SH3 606279 R
3.437 8 20 07 3q12.1 TMEM30C, CDC50C P Transmembrane protein 30C 611030 REc
3.438 11 28 88 3q13.2 MOX2 C MRC OX-2 antigen 155970 REa, A
3.439 7 11 91 3q12.1 COL8A1 P Collagen VIII, alpha-1 polypeptide 120251 A
3.440 2 21 13 3q12.1 DCBLD2, ESDN P Discoidin, CUB, and LCCL domain-containing protein 2 608698 REc, Psh
3.441 9 2 09 3q12.1 FILIP1L P Filamin A-interacting protein 1-like 612993 REc
3.442 6 10 08 3q11.2 MINA, MINA53, MDIG P MYC-induced nuclear antigen 612049 REc
3.443 8 30 09 3q12.1 ST3GAL6, ST3GALVI P ST3 beta-galactoside alpha-2,3-sialyltransferase 6 607156 R, REc
3.444 10 1 17 3q12.1-q12.2 TBC1D23, PCH11 P TBC1 domain family, member 23 617687 REc Pontocerebellar hypoplasia, type 11, 617695 (3)
3.445 7 17 14 3q12.3 CEP97 P Centrosomal protein, 97kD 615864 REc
3.446 9 1 16 3q12.2 ADGRG7, GPR128 P Adhesion G protein-coupled receptor G7 612307 REc
3.447 1 29 16 3q12.2 NIT2 P Nitrilase family member 2 616769 REc
3.448 4 27 16 3q12.2 TMEM45A, DERP7, DNAPTP4 P Transmembrane protein 45A 616928 REc
3.449 9 27 17 3q12.2 TOMM70A C Translocase of outer mitochondrial membrane 70, yeast, homolog of, A 606081 REc, R
3.450 8 19 13 3q21.3 CHST13, C4ST3 P Carbohydrate sulfotransferase 13 610124 REc
3.451 5 6 13 3q12.3 PCNP P PEST-containing nuclear protein 615210 REc
3.452 7 9 09 3q12.3 SENP7, KIAA1707 P Sentrin-specific protease family, member 7 612846 REc
3.453 6 17 16 3q12.3 TRMT10C, RG9MTD1, MRPP1, COXPD30 P tRNA methyltransferase 10, S. cerevisiae, homolog of, C 615423 REc Combined oxidative phosphorylation deficiency 30, 616974 (3)
3.454 8 18 14 3q12.3 ZPLD1 P Zona pellucida-like domain-containing protein 1 615915 REc
3.455 8 28 09 3q13.31 GAP43 P Neuron growth-associated protein 43 162060 REa, REc 16(Gap43)
3.456 5 22 03 3q13.2 GCET2, HGAL P Germinal center-expressed transcript 2 607792 REc
3.457 10 18 10 3q13.33 GOLGB1, GCP372 P Golgi autoantigen, golgin subfamily B, 1 602500 REc
3.458 9 29 96 3q13.33 HCLS1 P Hematopoietic cell-specific Lyn substrate 1 601306 A
3.459 9 21 11 3q21.1-q21.2 KALRN, HAPIP, DUO, CHDS5 C Kalirin 604605 Fd, REc {Coronary heart disease, susceptibility to, 5}, 608901 (3)
3.460 4 14 05 3q27.1 MAGEF1 P Melanoma antigen, family F, 1 609267 Psh, REc
3.461 1 28 00 3q13.13 MORC1 C MORC family CW-type zinc finger 1 (microrchidia, mouse, homolog of) 603205 H, A 16(Morc)
3.462 6 28 17 3q13.13 NECTIN3, PVRL3, PRR3 P Nectin 3 607147 R, REc
3.463 5 25 00 3q13.13 TRAT1, TRIM P T-cell receptor-associated transmembrane adaptor 1 604962 A
3.464 4 16 11 3q21.2 UMPS, OPRT C Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) 613891 S, A Orotic aciduria, 258900 (3)
3.465 1 3 02 3q13.33 NR1I2, PXR, SXR, PARq P Nuclear receptor subfamily 1, group I, member 2 603065 R, A
3.466 1 13 09 3q13.2 CD200R1, MOX2R, OX2R P CD200 receptor 1 607546 REc
3.467 12 13 00 3q13.13 GUCA1C, GCAP3 P Guanylate cyclase activator 1C 605128 Psh, A
3.468 11 25 96 3q13.1 MHS4 P Malignant hyperthermia susceptibility 4 600467 Fd {Malignant hyperthermia susceptibility 4} (2)
3.469 12 10 15 3q13.11 CBLB P CAS-BR-M murine ecotropic retroviral transforming sequence B 604491 Psh, A
3.470 7 20 09 3q12.3 NFKBIZ, INAP, MAIL, IKBZ P Nuclear factor of kappa light chain gene enhancer in B cells inhibitor, zeta 608004 REc 16(Inap)
3.471 2 19 97 3q13.11 ALCAM P Activated leukocyte cell adhesion molecule 601662 A
3.472 3 24 06 3p12.1 VGLL3, VGL3 P Vestigial-like 3 609980 REc
3.473 1 14 00 3q13.12 CD47, MER6, IAP C CD47 antigen (Rh-related antigen; integrin-associated protein) 601028 S, A
3.474 10 28 15 3q13.12 DUBR, DUM, LINC0883 P DPPA2 upstream-binding RNA, noncoding 616619 REc 16(Dubr)
3.475 8 25 11 3q13.1-q13.2 CD96, TACTILE C CD96 antigen 606037 R, REc, Ch C syndrome, 211750 (3)
3.476 1 30 12 3q13.13 DPPA2, PESCRG1, ECAT15-2 P Developmental pluripotency-associated gene 2 614445 REc 16(Dppa2)
3.477 7 27 11 3q13.13 DPPA4 P Developmental pluripotency-associated gene 4 614125 REc
3.478 7 13 17 3q13.13 DZIP3, KIAA0675 C DAZ-interacting zinc finger protein 3 608672 Psh, REc
3.479 5 25 13 3q13.13 HHLA2 P Human endogenous retrovirus-H long terminal repeat-associating 2 604371 REc
3.480 1 5 09 3q13.13 KIAA1524, p90 C KIAA1524 gene 610643 R, REc
3.481 3 1 06 3q13.13 MYH15 P Myosin, heavy chain 15 609929 REc
3.482 7 14 14 3q13.13 RETNLB, RELMB, FIZZ2 P Resistin-like protein, beta 605645 REc
3.483 2 25 15 3q13.2 BTLA P B- and T-lymphocyte attenuator 607925 REc
3.484 4 23 08 3q13.2 C3orf52, TTMP P Chromosome 3 open reading frame 52 611956 REc
3.485 7 24 17 3q13.2 CFAP44, WDR52, SPGF20 P Cilia- and flagella-associated protein 44 617559 REc mutation identified in 1 SPGF20 patient ?Spermatogenic failure 20, 617593 (3)
3.486 3 6 07 3q13.31 NAT13, NAT5, SAN P N-acetyltransferase 13 610834 REc
3.487 8 30 16 3q13.2 NEPRO, C3orf17 P Nucleolus and neural progenitor protein 617089 REc
3.488 5 24 13 3q13.2 PHLDB2 P Pleckstrin homology-like domain, family B, member 2 610298 REc, R
3.489 7 1 16 3q13.2 PLCXD1 P Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 2 617015 REc
3.490 4 30 09 3q13.2 SLC9A10 P Solute carrier family 9, member 10 612738 REc
3.491 11 3 11 3q13.2 SPICE1, CCDC52 P Spindle- and centriole-associated protein 1 613447 REc
3.492 9 9 13 3q13.2 TAGLN3, NP24, NP22 P Transgelin 3 607953 REc, R
3.493 12 5 03 3q13.2 URB, SSG1 P Urb, mouse, homolog of 608298 R, H, REc 16(Urb)
3.494 7 11 17 3q13.2 USF3 P Upstream transcription factor family, member 3 617568 REc
3.495 5 28 13 3q13.13 ZBED2 P Zinc finger BED domain-containing protein 2 615246 REc
3.496 9 16 14 3q13.31 ZBTB20, ZNF288, DPZF, PRIMS C Zinc finger and BTB-domain containing 20 606025 A, R Primrose syndrome, 259050 (3)
3.497 2 28 03 3q13.33 PLA1A, PSPLA1 P Phosphatidylserine-specific phospholipase A1-alpha 607460 A, H 16(Pla1a)
3.498 6 7 12 3q13.2-q13.33 STUT3 P Stuttering, familial persistent, 3 614655 Fd max lod at D3S1310 Stuttering, familial persistent, 3 (2)
3.499 8 31 12 3q21.1 ADCY5, FDFM C Adenylate cyclase-5 600293 REa, A Dyskinesia, familial, with facial myokymia, 606703 (3) 16(Adcy5)
3.500 11 3 98 3q13.31 LSAMP, LAMP P Limbic system-associated membrane protein 603241 A 16(Lsamp)
3.501 5 4 12 3q13.32-q13.33 ARHGAP31, CDGAP, KIAA1204, AOS1 P Rho GTPase-activating protein 31 610911 R, REc Adams-Oliver syndrome 1, 100300 (3)
3.502 7 9 07 3q13.33 ARGFX P Arginine-fifty homeobox 611164 REc pseudogenes on 5q23.2 and 17q11.2
3.503 8 9 99 3q13.32 B4GALT4 P Beta-1,4-galactosyltransferase 4 604015 REc
3.504 11 22 17 3q13.31 DRD3, ETM1, FET1 P Dopamine receptor D3 126451 REb, A {Schizophrenia, susceptibility to}, 181500 (3); {Essential tremor, hereditary, 1}, 190300 (3)
3.505 5 3 13 3q13.33 FSTL1, FRP, MIR198 P Follistatin-like 1 605547 R, REc FSTL1 mRNA can encode a protein or produce an micoRNA
3.506 5 25 00 3q13.33 GSK3B P Glycogen synthase kinase 3-beta 605004 A, R, Psh
3.507 8 27 08 3q21.2 MUC13 P Mucin 13, cell surface-associated 612181 A
3.508 5 4 00 3q13.33 POLQ P Polymerase, DNA, theta 604419 R
3.509 10 15 09 3q13.33 POPDC2, POP2 P Popeye domain-containing protein 2 605823 R, REc
3.510 5 26 05 3q13.33 STXBP5L, LLGL4 P Syntaxin-binding protein 5-like 609381 REc
3.511 7 13 09 3q13.31 TIGIT P T-cell immunoreceptor with immunoglobulin and ITIM domains 612859 REc
3.512 4 15 11 3q22.1 TRH C Thyrotropin-releasing hormone 613879 REa, H, A Thyrotropin-releasing hormone deficiency, 275120 (1) 6(Trh)
3.513 4 23 98 3q13.32 UPK1B P Uroplakin 1B 602380 A
3.514 4 17 13 3q13.33 MAATS1, AAT1, C3orf15 P MYCBP-associated testis-expressed protein 1 609910 REc
3.515 3 16 04 3q21.3 ZNF9, CNBP1, DM2, PROMM C Zinc finger protein-9 (a cellular retroviral nucleic acid-binding protein) 116955 REa, A, Fd Myotonic dystrophy 2, 602668 (3)
3.516 9 29 13 3q13.31 DEL3q13.31, C13DELq13.31 P Chromosome 3q13.31 deletion syndrome 615433 Ch Chromosome 3q13.31 deletion syndrome (4)
3.517 10 24 14 3q13.31 TUSC7, LSAMPAS3, LOC285194 P Tumor suppressor candidate 7, noncoding 616057 REc
3.518 2 2 17 3q13.31 ZDHHC23, NIDD P Zinc finger DHHC-type containing 23 617334 REc
3.519 6 13 12 3q13.33 ADPRH P ADP-ribosylarginine hydrolase 603081 REc
3.520 11 11 14 3q13.33 EAF2 P ELL-associated factor 2 607659 REc
3.521 4 19 12 3q13.33 GPR156, GABABL C G protein-coupled receptor 156 610464 REc
3.522 8 8 13 3q13.33 GTF2E1, TF2E1 P General transcription factor IIE, polypeptide 1 189962 REc
3.523 4 29 14 3q13.33 HGD, AKU C Homogentisate 1,2-dioxygenase (homogentisate oxidase) 607474 Fd, H, Psh, A, REc Alkaptonuria, 203500 (3) 16(aku)
3.524 1 18 18 3q13.33 IQCB1, NPHP5, KIAA0036 P IQ motif-containing protein B1 609237 REc Senior-Loken syndrome 5, 609254 (3)
3.525 5 25 13 3q13.33 NDUFB4 P NADH-ubiquinone oxidoreductase 1 beta subcomplex, 4 603840 REc
3.526 12 5 16 3q13.33 POGLUT1, CLP46, KTELC1, RUMI, C3orf9, DDD4, LGMD2Z P Protein O-glucosyltransferase 1 615618 REc mutation identified in 1 LGMD2Z family Dowling-Degos disease 4, 615696 (3); ?Muscular dystrophy, limb-girdle, type 2Z, 617232 (3)
3.527 10 2 12 3q13.33 SLC15A2, PEPT2 P Solute carrier family 15 (H+/peptide transporter), member 2 602339 REc
3.528 6 28 17 3q13.33 TIMMDC1, C3orf1 P Translocase of inner mitochondrial membrane domain-containing protein 1 615534 REc Mitochondrial complex I deficiency, 252010 (3)
3.529 12 4 03 3q21.3 ABTB1, BPOZ P Ankyrin repeat and BTB/POZ domain containing 1 608308 R
3.530 4 1 01 3q21 ATOD1 P Dermatitis, atopic, 1 603165 Fd max lod at D3S3606 {Dermatitis, atopic, susceptibility to, 1} (2)
3.531 12 9 95 3q13.33 CD80, CD28LG, LAB7 C CD80 antigen (CD28 antigen ligand 1, B7-1 antigen) 112203 REa, Psh, A 3(Cd80)
3.532 3 2 98 3q13.33 CD86, CD28LG2, LAB72 P CD86 antigen (CD28 antigen ligand 2, B7-2 antigen) 601020 A 16(Cd86)
3.533 10 23 15 3q22.1 COL6A4P2 P Collagen, type VI, alpha-4, pseudogene 2 616612 REc 9(Col6a4)
3.534 10 23 15 3q22.1 COL6A5, COL29A1 P Collagen, type VI, alpha-5 611916 REc
3.535 10 24 15 3q22.1 COL6A6 P Collagen, type VI, alpha-6 616613 REc 9(Col6a6)
3.536 1 13 16 3q21.1 CSTA, STFA, STF1, AREI, PSS4 P Cystatin A (stefin A) 184600 REa, D Peeling skin syndrome 4, 607936 (3) 16(Stf1)
3.537 10 30 02 3q21.1 DIRC2, RCC4 C Disrupted in renal carcinoma 2 602773 Ch, REc t(2;3)(q35;q21) in renal cell carcinoma Renal cell carcinoma, 144700 (1)
3.538 12 21 09 3q21.1 DTX3L, BBAP P DTX3-like 613143 REc head-to-head with PARP9
3.539 7 8 10 3q21 FGQTL6, BWQTL3, PGQTL1 P Fasting plasma glucose level QTL 6; Birth weight QTL 3; Plasma glucose, 2-hour, QTL 1 613460 Fd associated with rs11708067 and rs11708067 [Fasting plasma glucose level QTL 6] (2); [Birth weight QTL 3] (2); [Plasma glucose, 2-hour, QTL 1] (2)
3.540 12 19 05 3q21.3 GP9 P Glycoprotein IX, platelet 173515 REb, REc Bernard-Soulier syndrome, type C, 231200 (3)
3.541 4 10 14 3q21.3 GATA2, DCML, MONOMAC, IMD21 P GATA-binding protein-2 137295 REa, REc Immunodeficiency 21, 614172 (3); Emberger syndrome, 614038 (3); {Myelodysplastic syndrome, susceptibility to}, 614286 (3); {Leukemia, acute myeloid, susceptibility to}, 601626 (3) 6(Gata2)
3.542 6 5 12 3q21.3-q22.1 IFT122, WDR10, CED1 P Intraflagellar transport 122, homolog of 606045 A Cranioectodermal dysplasia 1, 218330 (3)
3.543 2 14 01 3q21.1 KPNA1, RCH2, SRP1 P Karyopherin, alpha-1 600686 A
3.544 9 16 16 3q22.2 KY, MFM7 P Kyphoscoliosis peptidase 605739 R Myopathy, myofibrillar, 7, 617114 (3) 9(ky)
3.545 6 2 16 3q21.3 MCM2, CDCL1, DFNA70 P Minichromosome maintenance deficient, S. cerevisiae, 2, homolog of (mitotin) 116945 A mutation identified in 1 DFNA70 family ?Deafness, autosomal dominant 70, 616968 (3)
3.546 3 10 11 3q21.1 MYLK, MLCK, AAT7 C Myosin-light-polypeptide kinase 600922 Psh, REc pseudogene on 3p13 Aortic aneurysm, familial thoracic 7, 613780 (3)
3.547 10 26 98 3q22.3 NCK C Non-catalytic region of tyrosine kinase 600508 A, REn, REa
3.548 6 10 08 3q21.1 PARP9, BAL1, BAL C Poly(ADP-ribose) polymerase 9 612065 A, REa, REc, REn
3.549 6 24 08 3q21.1 PARP15, BAL3 P Poly(ADP-ribose) polymerase 15 612066 REc
3.550 12 14 99 3q21 PSORS5 P Psoriasis susceptibility 5 604316 Fd {Psoriasis susceptibility 5} (2)
3.551 3 3 03 3q21.3 RAB7, CMT2B, PSN C Ras-associated protein RAB7 602298 Psh, A, Fd Charcot-Marie-Tooth disease, type 2B, 600882 (3) 9(Rab7)
3.552 6 16 99 3q21.3 RUVBL1, NMP238, TIP49 P RUVB, E. coli, homolog-like 1 603449 A
3.553 1 24 12 3q22.1-q22.2 SLCO2A1, OATP2A1, PGT, SLC21A2, PHOAR2 P Solute carrier organic anion transporter family, member 2A1 601460 Psh, A Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
3.554 9 1 11 3q22.1 TF, TFQTL1 C Transferrin 190000 S, H, REa, D, A Atransferrinemia, 209300 (3) 9(Trf)
3.555 2 22 07 3q21.3 TXNRD3, TRXR3, TR2 P Thioredoxin reductase 3 606235 REc
3.556 12 22 16 3q21.2 ZNF148, ZFP148, GDACCF C Zinc finger protein-148 601897 REc, A Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3)
3.557 12 27 01 3q21.3 KLF15, KKLF P Kruppel-like factor 15 606465 A
3.558 11 2 99 3q21.3 MBD4, MED1 P Methyl-CpG-binding domain protein 4 603574 A 6(Mdb4)
3.559 12 13 06 3q21-q22 HCFP1, MBS2 P Facial paresis, hereditary congenital, 1 601471 Fd Facial paresis, hereditary congenital, 1 (2)
3.560 12 23 05 3q22.1 NEK11 P Never in mitosis gene A-related kinase 11 609779 REc
3.561 6 21 01 3q22.3 PCCB C Propionyl Coenzyme A carboxylase, beta polypeptide 232050 REa, A, D pccB complementation group Propionicacidemia, 606054 (3)
3.562 12 22 89 3q23 RBP1, CRBP1 C Retinol-binding protein-1, cellular 180260 REa, A close to CRBP2 9(Crbp)
3.563 10 4 93 3q22.1 ACPP C Acid phosphatase, prostate 171790 REa, A
3.564 11 5 97 3q22.2 EPHB1, EPHT2, NET P eph tyrosine kinase 2 (ephrin receptor EphB1) 600600 Psh, A
3.565 5 29 12 3q23 GRK7, GPRK7 P G protein-coupled receptor kinase 7 606987 R
3.566 12 29 99 3q22.1 ATP2C1, BCPM, HHD C ATPase, Ca(2+)-sequestering 604384 Fd, REc Hailey-Hailey disease, 169600 (3)
3.567 6 4 97 3q21-q24 GLC1C C Glaucoma 1, open angle, C 601682 Fd Glaucoma 1C, primary open angle (2)
3.568 6 27 02 3q23 PCOLCE2 P Procollagen C-endopeptidase enhancer-2 607064 REc
3.569 1 31 13 3q22.1 RHO, RP4, OPN2, CSNBAD1 C Rhodopsin (opsin 2) 180380 REa, A, Fd Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3); Night blindness, congenital stationary, autosomal dominant 1, 610445 (3); Retinitis punctata albescens, 136880 (3) 6(Rho)
3.570 5 19 15 3q24 AGTR1, AGTR1A, AT2R1 C Angiotensin receptor 1 106165 REa {Hypertension, essential}, 145500 (3); Renal tubular dysgenesis, 267430 (3)
3.571 5 24 12 3q22.1 BFSP2, CP49, CP47, CTRCT12 C Beaded filament structural protein 2 (cytoskeletal protein, 49 kD) 603212 REa Cataract 12, multiple types, 611597 (3)
3.572 8 25 11 3q25.1 CLRN1, USH3A, USH3, RP61 C Clarin 1 606397 Fd, REc frequent in Finland; ?digenic interaction with MYO7A Usher syndrome, type 3A, 276902 (3); Retinitis pigmentosa 61, 614180 (3) 3(Ush3)
3.573 1 27 11 3q25.1 MED12L, NOPAR, KIAA1635 C Mediator complex subunit 12-like 611318 Psh, REc
3.574 2 3 99 3q25.1 TM4SF1, M3S1, TAAL6 P Transmembrane-4 superfamily, member 1 191155 REa
3.575 9 8 11 3q21-q25.2 ERVK-4, HERV-KI P Endogenous retrovirus group K, member 4 614011 R, REc
3.576 8 22 16 3q25.2 MME, CD10, CALLA, NEP, CMT2T, SCA43 C Membrane metallo-endopeptidase (common acute lymphocytic leukemia antigen) 120520 REa, A mutation identified in 1 SCA43 family Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3); ?Spinocerebellar ataxia 43, 617018 (3) 9(Mme)
3.577 1 1 95 3q27.3 SIAT1 P Sialyltransferase-1 (beta-galactoside alpha-2,6-sialyltransferase) 109675 REa, A
3.578 4 6 18 3q26.2 TERC, TRC3, TR, DKCA1, PFBMFT2 P Telomerase RNA component 602322 H, Fd Dyskeratosis congenita, autosomal dominant 1, 127550 (3); {Aplastic anemia}, 614743 (3); {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743 (3) 3(Terc)
3.579 10 15 97 3q27.1 EPHB3, ETK2 P EPH-like tyrosine kinase-2 601839 Psh
3.580 12 2 99 3q21.3 PLXNA1, NOVP, NOV, PLXN1 P Plexin A1 (NOV transmembrane protein) 601055 REa
3.581 12 22 87 3q23 RBP2, CRBP2 P Retinol-binding protein-2, cellular 180280 REa close to CRBP1 9(Crbp2)
3.582 1 12 07 3q21.1 C3orf28, E2IG5 P E2-induced gene 5 608017 R, REc
3.583 8 13 13 3q13.3-q21.1 CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1 C Calcium-sensing receptor 601199 Fd, REa 15cM from RHO Hypocalciuric hypercalcemia, type I, 145980 (3); Hyperparathyroidism, neonatal, 239200 (3); Hypocalcemia, autosomal dominant, 601198 (3); Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3); {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3); Hypercalciuric hypercalcemia (3); {Calcium, serum level of} (3) 16(Gprc2a)
3.584 10 11 16 3q21.1 CCDC14 P Coiled-coil domain-containing protein 14 617147 REc
3.585 9 9 08 3q13.33 FBXO40, FBX40, KIAA1195 C F-box only protein 40 609107 R, REc 16(Fbxo40)
3.586 3 28 11 3q13.33 ILDR1, DFNB42 P Immunoglobulin-like domain-containing receptor 1 609739 REc Deafness, autosomal recessive 42, 609646 (3)
3.587 11 01 07 3q21.2 OSBPL11, ORP11 P Oxysterol-binding protein-like protein 11 606739 REc previously assigned to chr.8
3.588 4 19 06 3q21.1 PARP14, KIAA1268 P Poly(ADP-ribose) polymerase 14 610028 R, REc
3.589 5 11 16 3q21.1 PDIA5, PDIR P Protein disulfide isomerase, family A, member 5 616942 REc
3.590 8 18 14 3q21.1 PTPLB, HACD2 C Protein tyrosine phosphatase-like (proline instead of catalytic arginine), member B 615939 REc
3.591 1 28 08 3q21.1 ROPN1, ODF6 P Rhophilin-associated tail protein 1 611757 REc
3.592 11 25 08 3q21.1 SEC22A, SEC22L2 P Secretion deficient 22, S. cerevisiae, homolog of, A 612442 R, REc
3.593 9 6 11 3q21.2 HEG1, KIAA1237 P Heart of glass, zebrafish, homolog of, 1 614182 REc
3.594 7 14 14 3q21.2 ITGB5 P Integrin, beta-5 147561 REc
3.595 8 26 15 3p14.3 PDE12 P Phosphodiesterase 12 616519 REc
3.596 3 8 07 3q21.2-q21.3 SLC41A3 P Solute carrier family 41, member 3 610803 R, REc
3.597 8 30 09 3q21.2 SNX4 P Sorting nexin 4 605931 R, REc
3.598 1 27 11 3q21.3 ALDH1L1, FTHFD P Aldehyde dehydrogenase 1 family, member L1 600249 REc
3.599 2 13 14 3q21.3 CHCHD6, CHCM1 P Coiled-coil-helix-coiled-coil-helix domain-containing protein 6 615634 REc
3.600 11 19 13 3q21.3 COPG1 P Coatomer protein complex, subunit gamma-1 615525 REc
3.601 6 21 13 3q21.3 DNAJB8, DJ6 P DNAJ/HSP40 homolog, subfamily B, member 8 611337 REc, R
3.602 9 9 13 3q21.3 EEFSEC, SELB, EFSEC P Eukaryotic elongation factor, selenocysteine-tRNA-specific 607695 REc
3.603 11 11 14 3q21.3 H1FX, H1X P H1 histone family, member X 602785 REc
3.604 5 12 09 3q21.3 ISY1, KIAA1160 P ISY1 splicing factor, S. cerevisiae, homolog of 612764 R, REc
3.605 10 29 15 3q21.3 PODXL2, EG P Podocalyxin-like 2 616627 REc
3.606 8 1 16 3q21.3 SEC61A1, SEC61, HNFJ4 P Sec61 complex, alpha-1 subunit 609213 REc Hyperuricemic nephropathy, familial juvenile, 4, 617056 (3)
3.607 5 12 15 3q21.3 UROC1, UROCD P Urocanase domain-containing protein 1 613012 REc mutation identified in 1 UROCD patient ?Urocanase deficiency, 276880 (3)
3.608 5 22 14 3q21.3 ZXDC C ZCD family zinc finger protein C 615746 REc
3.609 6 4 98 3q25.1 AADAC, DAC P Arylacetamide deacetylase (esterase) 600338 R
3.610 8 11 15 3q22.1 ACKR4, CCRL1, PPR1 P Atypical chemokine receptor 4 606065 A
3.611 6 19 01 3q22 DFNA18 P Deafness, autosomal dominant 18 606012 Fd Deafness, autosomal dominant 18 (2)
3.612 6 20 17 3q22.3 FAIM P Fax apoptotic inhibitory molecule 617535 REc
3.613 9 9 10 3q22.1 NPHP3, NPH3, RHPD1, MKS7 C Nephrocystin 3 608002 Fd, REc Nephronophthisis 3, 604387 (3); Renal-hepatic-pancreatic dysplasia 1, 208540 (3); Meckel syndrome 7, 267010 (3)
3.614 7 22 16 3q22 PARK21 P Parkinson disease 21 616361 Fd conflicting mapping on 20pter-p12 Parkinson disease 21 (2)
3.615 8 28 09 3q22.1 PLXND1 P Plexin D1 604282 REn, REc
3.616 3 31 15 3q22.2-q22.3 PP2R3A, PR72, PR130 P Protein phosphatase 2, regulatory subunit B'', alpha 604944 R, REc
3.617 9 4 02 3q22 SLSN3 P Senior-Loken syndrome 3 606995 Fd ?allelic with NPHP3 Senior-Loken syndrome 3 (2)
3.618 10 11 16 3q22.1 UBA5, UBE1DC1, EIEE44, SCAR24 P Ubiquitin-like modifier activating enzyme 5 610552 REc mutation identified in 1 SCAR24 family Epileptic encephalopathy, early infantile, 44, 617132 (3); ?Spinocerebellar ataxia, autosomal recessive 24, 617133 (3)
3.619 4 13 98 3q23 ATP1B3 P ATPase, Na+/K+ transporting, beta 3 polypeptide 601867 A 9(Atp1b3)
3.620 1 21 97 3q23 RASA2, GAP1M P RAS p21 protein activator 2 601589 A
3.621 8 30 07 3q22-q24 AD15 P Alzheimer disease 15 611155 Fd max lod at D3S1579 {Alzheimer disease-15} (2)
3.622 1 6 12 3q23 ATR, FRP1, SCKL1, FCTCS C Ataxia-telangiectasia and Rad3-related (FRAP-related protein-1) 601215 A, Fd mutation identified in 1 FCTCS family Seckel syndrome 1, 210600 (3); ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
3.623 4 20 11 3q22-q24 DWS, C3DELq22q24, DEL3q22q24 P Dandy-Walker syndrome 220200 Ch ZIC1 and ZIC4 good candidate genes Dandy-Walker syndrome (4)
3.624 6 12 07 3q22-q24 OTSC5 P Otosclerosis 5 608787 Fd max lod at D3S1569 Otosclerosis 5 (2)
3.625 8 9 99 3q23 RNF7, ROC2, SAG P RING finger protein-7 (regulator of cullins 2; sensitive to apoptosis gene) 603863 A
3.626 4 23 98 3q23 TRPC1, TRP1 P Transient receptor potential channel 1 602343 A also called Htrp-1
3.627 5 4 00 3q22-q25 PABPL1 P Polyadenylate-binding protein-like 1 173865 A
3.628 10 18 11 3q22.1 ACAD11 P Acyl-CoA dehydrogenase family, member 11 614288 REc
3.629 5 25 13 3q22.1 CPNE4, CPN4 P Copine IV 604208 REc
3.630 7 13 16 3q22.1 DNAJC13, RME8, KIAA0678 C DNAJ/HSP40 homolog, subfamily C, member 13 614334 R, REc
3.631 4 27 12 3q22.1 MRPL3, MRL3, COXPD9 P Mitochondrial ribosomal protein L3 607118 R, REc Combined oxidative phosphorylation deficiency 9, 614582 (3)
3.632 3 18 17 3q22.1 NUDT16 P Nudix hydrolase 16 617381 REc
3.633 9 27 17 3q22.1 PIK3R4 P Phosphatidylinositol 3-kinase, regulatory subunit 4 602610 REc
3.634 7 18 14 3q22.1 RAB6B P Ras-associated protein RAB6B 615852 REc
3.635 3 29 16 3q22.1 SRPRB, APMCF1 P Signal recognition particle receptor, beta subunit 616883 REc
3.636 1 4 16 3q22.1 TMCC1, KIAA0779 P Transmembrane and coiled-coil domain family 1 616242 REc
3.637 2 24 17 3q22.1 TMEM108, RTLN, KIAA1690 C Transmembrane protein 108 617361 REc
3.638 8 30 09 3q22.1 TOPBP1, KIAA0259 P DNA topoisomerase II-binding protein 1 607760 R, REc
3.639 5 29 12 3q22.2 AMOTL2, KIAA0989 P Angiomotin-like 2 614658 REc
3.640 2 23 12 3q22.2 ANAPC13, APC13, SWM1 P Anaphase-promoting complex, subunit 13 614484 REc
3.641 3 7 14 3q22.2 CEP63, SCKL6 P Centrosomal protein, 63kD 614724 REc mutation identified in 1 family ?Seckel syndrome 6, 614728 (3)
3.642 10 2 12 3q22.2 RYK, RYK1 P RYK receptor-like tyrosine kinase 600524 REc, Ch 9(Ryk1)
3.643 10 25 11 3q22.3 CEP70 P Centrosomal protein, 70kD 614310 REc
3.644 9 20 14 3q22.3 DBR1 P Debranching enzyme 1, S. cerevisiae, homolog of 607024 REc
3.645 8 7 17 3q22.3 DZIP1L, DZIP2, PKD5 C DAZ-interacting zinc finger protein 1-like 617570 REc Polycystic kidney disease 5, 617610 (3) 9(Dzip1l)
3.646 12 11 15 3q22.3 ESYT3, FAM62C P Extended synaptotagmin-like protein 3 616692 REc
3.647 2 2 04 3q22.3 MRAS, RRAS3 P Muscle Ras viral oncogene homolog 608435 REc
3.648 2 25 14 3q22.3 MSL2, KIAA1585 P Male-specific lethal 2, Drosophila, homolog of 614802 REc
3.649 9 9 08 3q22.3 PIK3CB, PI3KCB P Phosphatidylinositol 3-kinase, catalytic, beta 602925 R, REc
3.650 12 15 17 3q22.3 SLC35G2, TMEM22 P Solute carrier family 35, member G2 617812 REc
3.651 3 3 15 3q23 CLSTN2 P Calsyntenin 2 611323 REc
3.652 12 8 17 3q23 COPB2, MCPH19 P Coatomer protein complex, subunit beta-2 606990 A mutation identified in 1 MCPH19 family ?Microcephaly 19, primary, autosomal recessive, 617800 (3)
3.653 11 2 04 3q22.3 FOXL2, BPES, BPES1, PFRK, POF3 C Forkhead transcription factor FOXL2 605597 Ch, Fd Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3); Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3); Premature ovarian failure 3, 608996 (3)
3.654 1 23 08 3q23 MRPS22, C3orf5, COXPD5 C Mitochondrial ribosomal protein S22 605810 REc Combined oxidative phosphorylation deficiency 5, 611719 (3)
3.655 8 29 07 3q23 NMNAT3, PNAT3 P Nicotinamide nucleotide adenylyltransferase 3 608702 R, REc
3.656 4 19 12 3q23 PAQR9 P Progestin and ADIPOQ receptor family, member 9 614580 REc
3.657 8 28 09 3q23 PLS1 P Plastin-1 602734 REa, REc
3.658 10 19 99 3q24 PLSCR1, MMTRA1B P Phospholipid scramblase 1 604170 A
3.659 3 10 03 3q24 PLSCR2 P Phospholipid scramblase 2 607610 R
3.660 3 10 03 3q24 PLSCR4 P Phospholipid scramblase 4 607612 REc
3.661 12 30 14 3q23 SLC25A36, PNC2 P Solute carrier family 25 (mitochondrial carrier, pyrimidine nucleotide transporter), member 36 616149 REc
3.662 6 5 00 3q22.3 SOX14 C SRY-box 14 604747 A, R, REc
3.663 12 18 07 3q23 SPSB4, SSB4 P SPRY domain- and SOCS box-containing 4 611660 REc
3.664 2 17 09 3q23 STQTL10 P Stature quantitative trait locus 10 612221 Fd associated with rs6440003 {Stature QTL 10} (2)
3.665 3 5 98 3q23 TFDP2, DP2 P Transcription factor Dp-2 (E2F dimerization partner 2) 602160 A
3.666 1 24 18 3q23 U2SURP, SR140, KIAA0332 C U2 small nuclear ribonucleoprotein-associated SURP domain-containing protein 617849 R, REc
3.667 2 17 09 3q23 ZBTB38 P Zinc finger- and BTB domain-containing protein 38 612218 REc
3.668 6 4 02 3q24-q25 CP C Ceruloplasmin 117700 F, H, REa, A ~15cM from TF [Hypoceruloplasminemia, hereditary], 604290 (3); Cerebellar ataxia, 604290 (3); Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3) 9(Cp)
3.669 2 13 15 3q24 PLOD2, LH2, TLH, BRKS2 C Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2 601865 Psh, A Bruck syndrome 2, 609220 (3) 9(Plod2)
3.670 8 29 08 3q24 C3orf58, DIA1 P Chromosome 3 open reading frame 58 612200 REc
3.671 6 2 06 3q24 CHST2 P Carbohydrate sulfotransferase-2 (GlcNAc-6-O-sulfotransferase; N-acetylglucosamine-6-O-sulfotransferase) 603798 REc mapped by FISH to 7q31
3.672 8 28 09 3q24 CPA3 P Carboxypeptidase A3, mast cell 114851 Psh, REc
3.673 7 18 14 3q24 CPB1, PCPB, PASP P Carboxypeptidase B1, tissue 114852 REc
3.674 8 28 15 3q25.31 GMPS C Guanine monophosphate synthetase 600358 A, Ch fusion gene with MLL in AML
3.675 11 28 01 3q25.1 GPR86 P G protein-coupled receptor 86 606380 REc
3.676 11 28 01 3q25.1 GPR87 P G protein-coupled receptor 87 606379 REc
3.677 7 16 01 3q24 HPS3 P HPS gene 3 606118 HZ, Fd Hermansky-Pudlak syndrome 3, 614072 (3) 3(Hps3)
3.678 12 27 13 3q24 SLC9A9, AUTS16 C Solute carrier family 9 (sodium/hydrogen exchanger), member A9 608396 Ch, REc mutation identified in 1 family {?Autism susceptibility 16}, 613410 (3)
3.679 11 18 16 3q25.1 SELENOT, SELT P Selenoprotein T 607912 REc
3.680 7 17 12 3q25.1 WWTR1, TAZ P WW domain-containing transcription regulator 1 607392 R
3.681 3 5 18 3q24 ZIC4 C Zic family, member 4 608948 R, D 9(Zic4)
3.682 10 20 15 3q24 ZIC1, CRS6 C Zic family, member 1 600470 A, D Craniosynostosis 6, 616602 (3) 9(Zic1)
3.683 9 15 11 3q25.1 P2RY12, P2Y12, BDPLT8 P Purinergic receptor P2Y, G protein-coupled, 12 600515 R Bleeding disorder, platelet-type, 8, 609821 (3)
3.684 9 9 08 3q25.31-q25.32 VEPH1, MELT, KIAA1692 P Ventricular zone-expressed PH domain-containing protein, zebrafish, homolog of, 1 609594 R, REc
3.685 2 5 14 3q24 GYG1, GSD15 P Glycogenin 1 603942 A mutation identified in 1 GSD15 patient ?Glycogen storage disease XV, 613507 (3); Polyglucosan body myopathy 2, 616199 (3)
3.686 3 8 07 3q24-q26 HDLCQ5 P High density lipoprotein cholesterol level QTL 5 610761 Fd max lod at D3S3053 [High density lipoprotein cholesterol level QTL 5] (2)
3.687 1 30 02 3q24-q26 UVM1 P Melanoma, uveal, susceptibility to, 1 606660 Ch {Melanoma, uveal, susceptibility to, 1} (2)
3.688 2 3 13 3q26.1 B3GALT3, GLCT3, GLOB P UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 3 603094 REc [Blood group, globoside system], 615021 (3); [Blood group, P1PK system, P(k) phenotype], 111400 (3)
3.689 2 6 08 3q25.32 IQCJ P IQ motif-containing protein J 611622 REc
3.690 12 27 01 3q25.1-q25.2 MBNL1, KIAA0428, EXP P Muscleblind-like protein 606516 R, REc
3.691 6 23 98 3q25.2 P2RY1, P2Y1 C Purinergic receptor P2Y, G-protein coupled, 1 601167 Psh, REc
3.692 5 5 98 3q25.32 PTX3 C Pentraxin-3 602492 REa, A
3.693 5 28 98 3q25.1 SIAH2 P Seven in absentia, Drosophila, homolog of, 2 602213 A
3.694 8 30 09 3q25.1 TM4SF4, ILTMP P Transmembrane 4 superfamily, member 4 606567 R, REc
3.695 5 28 08 3q25-q26 CELIAC10 P Celiac disease, susceptibility to, 10 612008 Fd associated with rs17810546 {Celiac disease, susceptibility to, 10} (2)
3.696 4 10 14 3q25-q26 ETL6 P Epilepsy, familial temporal lobe, 6 615697 Fd between D3S1584 and D3S3520 Epilepsy, familial temporal lobe, 6 (2)
3.697 8 12 98 3q25.32 SHOX2, SHOT, OG12 P Short stature homeo box 2 602504 A, R 3(Og12)
3.698 2 3 06 3q26.1 SI C Sucrase-isomaltase 609845 REa, A, Fd Sucrase-isomaltase deficiency, congenital, 222900 (3) 3(Sis)
3.699 8 18 04 3q23 XRN1, SEP1 P Exoribonuclease 1 607994 R
3.700 6 7 04 3q25-q27 ASPG1 P Asperger syndrome, susceptibility to, 1 608638 Fd max lod with D3S3037 {Asperger syndrome susceptibility 1} (2)
3.701 5 16 07 3q25-q27 AUTS8 P Autism, susceptibility to, 8 607373 Fd {Autism susceptibility 8} (2)
3.702 8 27 01 3q26.2 EIF5A2 P Eukaryotic translation initiation factor 5A2 605782 R
3.703 5 31 05 3q27.1 MCCC1, MCCA C 3-Methylcrotonyl-CoA carboxylase 1 609010 R, A 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
3.704 8 26 04 3q26.2 PRKCI P Protein kinase C, iota 600539 H, REc pseudogene on X 3(Prkci)
3.705 12 22 15 3q25.1 COMMD2 P COMM domain-containing protein 2 616699 REc
3.706 3 19 09 3q25.1 EIF2A P Eukaryotic translation initiation factor 2A 609234 REc
3.707 3 18 17 3q25.1 IGSF10 P Immunoglobulin superfamily, member 10 617351 REc
3.708 8 29 96 3q25.32 MLF1 P Myeloid leukemia factor-1 601402 Ch Leukemia, acute myeloid, 601626 (1)
3.709 8 19 13 3q25.1 P2RY14, BPR105, KIAA0001 C Purinergic receptor P2Y, G protein-coupled, 14 610116 Psh, REn
3.710 9 21 17 3q25.1 SERP1, RAMP4 P Stress-associated endoplasmic reticulum protein 1 617674 REc
3.711 3 23 14 3q25.1 TMEM183B, C1orf37DUP P Transmembrane protein 183B 611365 REc
3.712 10 25 17 3q25.1 TSC22D2, KIAA0669 C TSC22 domain family, member 2 617724 REc, H 3(Tsc22d2)
3.713 2 20 97 3q25.1 PFN2, PFL, D3S1319E P Profilin-2 176590 REc mapped previously to chr.1
3.714 11 16 98 3q24 SMARCA3, SNF2L3, HIP116 P SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3 603257 Psh, A
3.715 6 27 17 3q25.2 ARHGEF26, SGEF P Rho guanine nucleotide exchange factor 26 617552 REc
3.716 4 30 09 3q25.2 DHX36, G4R1, RHAU, KIAA1488 P DEAH (Asp-Glu-Ala-His) box polypeptide 36 612767 REc
3.717 4 8 16 3q25.2 DWORF, LOC100507537 P Dwarf open reading frame 616891 REc
3.718 8 8 13 3q25.2 RAP2B P Ras-related protein 2B 179541 R, REc
3.719 8 16 10 3q25.3 BWQTL2 P Birth weight quantitative trait locus 2 613459 Fd associated with rs900400 [Birth weight QTL 2] (2)
3.720 4 7 05 3q25.32 LXN, ECI, TCI P Latexin 609305 R, REc 3(Lxn)
3.721 8 30 09 3q25.32 RARRES1, TIG1 P Retinoic acid receptor responder 1 605090 R, REc
3.722 5 5 10 3q25.31 CCNL1, ANIA6A P Cyclin L1 613384 REc
3.723 8 27 15 3q25.31 LEKR1 P Leucine-, glutamate-, and lysine-rich protein 1 613536 REc
3.724 7 9 09 3q25.31 PLCH1, PLCL3, KIAA1069 P Phospholipase C, eta-1 612835 REc
3.725 4 27 12 3q25.31 SLC33A1, ACATN, AT1, SPG42, CCHLND C Solute carrier family 33 (acetyl-CoA transporter), member 1 603690 A, R, REc Spastic paraplegia 42, autosomal dominant, 612539 (3); Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3) 3(Acatn)
3.726 6 13 12 3q25.31 SSR3, TRAPG p Signal sequence receptor, gamma 606213 R, REc
3.727 12 17 08 3q25.31 TIPARP P TCDD-inducible poly(ADP-ribose) polymerase 612480 REc
3.728 10 15 13 3q25.32 GFM1, EFG1, GFM, COXPD1 C Mitochondrial elongation factor G1 606639 R, M, Fd, REc Combined oxidative phosphorylation deficiency 1, 609060 (3)
3.729 6 7 10 3q25.32 RSRC1, SRRP53 P Arginine/serine-rich coiled-coil protein 1 613352 REc
3.730 1 30 12 3q25.33 ARL14, ARF7 P ADP-ribosylation factor-like 14 614439 REc
3.731 1 17 18 3q25.33 IFT80, KIAA1374, WDR56, SRTD2, ATD2 C Intraflagellar transport 80, Chlamydomonas, homolog of 611177 R, REn Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
3.732 2 25 14 3q25.33 SCARNA7 P Small Cajal body-specific RNA 7 615644 REc
3.733 4 1 15 3q21.3 ACAD9 C Acyl-CoA dehydrogenase family, member 9 611103 REc Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)
3.734 5 15 08 3q26 AGA1, MPB P Alopecia, androgenetic, 1 109200 Fd Alopecia, androgenetic, 1 (2)
3.735 3 7 14 3q27.1 CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT C Chloride channel-2 600570 Psh {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3); {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3); {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3); Leukoencephalopathy with ataxia, 615651 (3)
3.736 3 20 08 3q26.31 FNDC3B, FAD104 P Fibronectin domain III-containing protein 3B 611909 REc 3(Fndc3b)
3.737 10 9 94 3q26 MDS1 P Myelodysplasia syndrome-1 600049 Ch, REc, A cen--EVI1--MDS1--EAP--tel Myelodysplasia syndrome-1 (3)
3.738 1 8 16 3q26.2 MECOM, EVI1, RUSAT2 C MDS1 and EVS1 complex locus 165215 A, Ch, REc Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3) 3(Evi1)
3.739 4 13 05 3q26 MYP8 P Myopia 8 609257 Fd Myopia 8 (2)
3.740 8 3 12 3q28 OSTN P Osteocrin 610280 REc, H 16(Ostn)
3.741 8 23 17 3q26.31 PLD1, CVDD C Phospholipase D1, phosphatidylcholine-specific 602382 REa, A Cardiac valvular defect, developmental, 212093 (3) 3(Pld1)
3.742 10 7 99 3q26.1 SERPINI1, PI12 P Protease inhibitor 12 602445 A Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3)
3.743 12 28 08 3q26.1 SLITRK3, KIAA0848 C SLIT- and NTRK-like family, member 3 609679 R, REc, H 3(Slitrk3)
3.744 6 16 99 3q26.31 TNFSF10, TRAIL, APO2L P Tumor necrosis factor ligand superfamily, member 10 603598 A
3.745 1 24 01 3q25.33 CAPC P Chromosome-associated protein C 605575 A
3.746 11 4 98 3q25.31 KCNAB1, KCNA1B C Potassium voltage-gated channel, shaker-related subfamily, beta member 1 601141 Psh, A, REc 3(Kcna1b)
3.747 2 1 11 3q25.33 KPNA4, QIP1 P Karyopherin alpha-4 602970 REc
3.748 8 20 07 3q26.1 NMD3 P NMD3, S. cerevisiae, homolog of 611021 R, REc
3.749 1 25 05 3q26.1 PDCD10, TFAR15, CCM3 P Programmed cell death 10 609118 REc, Fd Cerebral cavernous malformations 3, 603285 (3)
3.750 4 8 08 3q25.3-q26.1 PPM1L, PP2CE P Protein phosphatase 1-like 611931 REc
3.751 9 7 12 3q26.1 SPTSSB, C3orf57, SSSPTB, ADMP C Serine palmitoyltransferase, small subunit B 610412 REc, R
3.752 12 30 14 3q25.33 TRIM59, RNF104, MRF1, IFT80L P Tripartite motif-containing protein 59 616148 REc, H 3(Trim59)
3.753 8 8 91 3q26.1 BCHE, CHE1 C Butyrylcholinesterase 177400 F, D, A distal to CP, TF Apnea, postanesthetic (3)
3.754 6 13 95 3q26.31 ECT2 P Epithelial cell transforming sequence 2 oncogene 600586 A, Psh 3(Ect2)
3.755 2 5 01 3q26.1 SERPIN12, PI14, MEPI C Protease inhibitor 14 605587 REn, A
3.756 8 7 01 3q26.1-q26.3 MNG3 P Multinodular goiter-3 606082 Fd Goiter, multinodular, 3 (2)
3.757 12 5 13 3q26.2 SLC2A2, GLUT2 C Solute carrier family 2 (facilitated glucose transporter), member 2 138160 REa, A, Fd {Diabetes mellitus, noninsulin-dependent}, 125853 (3); Fanconi-Bickel syndrome, 227810 (3)
3.758 7 11 11 3q26.2 ARPM1 P Actin-related protein M1 608534 REc
3.759 8 28 09 3q26.2 GOLIM4, GOLPH4, GPP130 P Golgi integral membrane protein 4 606805 R, REc
3.760 9 12 13 3q26.2 MYNN P Myoneurin 606042 REc
3.761 2 2 11 3q26.2 SEC62, TLOC1, HTP1 P Sec62, S. cerevisiae, homolog of 602173 REc
3.762 5 29 13 3q26.2 SKIL, SNO P SKI-like 165340 REc
3.763 4 3 14 3q26.2 SLC7A14, KIAA1613, RP68 P Solute carrier family 7, member 14 615720 REc Retinitis pigmentosa 68, 615725 (3)
3.764 7 18 14 3q26.2 TRV-AAC1-1, TRNAV24 P Transfer RNA valine (AAC) 1-1 615310 REc
3.765 1 26 01 3q26.2 CLDN11, OTM, OSP P Claudin 11 (oligodendrocyte transmembrane protein) 601326 REa, A
3.766 6 16 99 3q26.33 USP13, ISOT3 C Ubiquitin-specific protease-13 603591 R, Psh, REc
3.767 7 15 16 3q26.2-q26.3 TNIK, KIAA0551, MRT54 P TRAF2-and NCK-interacting kinase 610005 R, REc Mental retardation, autosomal recessive 54, 617028 (3)
3.768 11 26 12 3q26.2-q26.31 APMR2 P Alopecia-mental retardation syndrome 2 610422 Fd between D3S1564 and D3S2427 Alopecia-mental retardation syndrome 2 (2)
3.769 3 19 09 3q26.2-q26.33 FEB10 P Febrile seizures, familial, 10 612637 Fd between D3S3656 and D3S1232 Febrile seizures, familial, 10 (2)
3.770 8 21 07 3q26.33 PEX5L, PEX5R, PXR2B P Peroxisome biogenesis factor 5-like 611058 REc
3.771 11 1 13 3q27.2 TRA2B, SFRS10 P Splicing factor, arginine/serine-rich, 10 (transformer 2, drosophila, homolog of, beta) 602719 R
3.772 5 1 91 3q29 APOD P Apolipoprotein D 107740 REb, A 16(Apod)
3.773 8 20 07 3q26.33 ACTL6A, BAF53, BAF53A P Actin-like 6A 604958 REc
3.774 3 15 11 3q26.33 CCDC39 P Coiled-coil domain-containing protein 39 613798 REc Ciliary dyskinesia, primary, 14, 613807 (3)
3.775 4 30 15 3q26.33 SOX2OT, NCRNA00043 P SOX2 overlapping transcript, noncoding 616338 REc
3.776 4 21 10 3q26.33 DCUN1D1, RP42 P DCN1 domain-containing protein 1 605905 REc previously mapped to 6q16
3.777 7 3 06 3q26.33 DNAJC19, TIM14 P DnaJ (Hsp40) homolog, subfamily C, member 19 (translocase of inner mitochondrial membrane 14, yeast, homolog of) 608977 R, REc 3-methylglutaconic aciduria, type V, 610198 (3)
3.778 5 6 13 3q26.33 GNB4, CMTD1F P Guanine nucleotide-binding protein, beta-4 610863 R, REc Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)
3.779 2 13 15 3q26.31 GHSR, GHDP P Growth hormone secretagogue receptor 601898 REc Growth hormone deficiency, isolated partial, 615925 (3)
3.780 3 5 08 3q26.33 MRPL47 P Mitochondrial ribosomal protein L47 611852 R, REc
3.781 8 19 04 3q26.31 NAALADL2 P N-acetylated alpha-linked acidic dipeptidase-like 2 608806 Ch, REc ?involved in Cornelia de Lange syndrome
3.782 2 21 10 3q26.31 NCEH1, NCEH, KIAA1363 P Neutral cholesterol ester hydrolase 1 613234 REc
3.783 8 28 09 3q26.31 NLGN1 P Neuroligin 1 600568 R, REc
3.784 11 29 12 3q26.32 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5 P Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide 171834 REa, A Ovarian cancer, somatic, 167000 (3); Breast cancer, somatic, 114480 (3); Colorectal cancer, somatic, 114500 (3); Gastric cancer, somatic, 613659 (3); Hepatocellular carcinoma, somatic, 114550 (3); Nonsmall cell lung cancer, somatic, 211980 (3); Keratosis, seborrheic, somatic, 182000 (3); Nevus, epidermal, somatic, 162900 (3); CLOVE syndrome, somatic, 612918 (3); Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3); Cowden syndrome 5, 615108 (3)
3.785 4 30 15 3q26.31 SPATA16, SPGF6 C Spermatogenesis-associated protein 16 609856 R, REc, Fd mutation identified in 1 SPGF6 family ?Spermatogenic failure 6, 102530 (3)
3.786 4 30 01 3q27.1 DCLAMP P Lysosome-associated membrane glycoprotein, dendritic cell-specific 605883 A
3.787 1 22 07 3q26.33 SOX2, MCOPS3 C SRY (sex determining region Y)-box 2 184429 A, D Microphthalmia, syndromic 3, 206900 (3); Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3)
3.788 3 9 12 3q27.1 THPO, MGDF, MPLLG, TPO, THCYT1 C Thrombopoietin (megakaryocyte growth and development factor) 600044 A Thrombocythemia 1, 187950 (3) 16(Thpo)
3.789 11 13 01 3q26.32 WIG1 P Wildtype p53-induced gene 606452 A
3.790 1 29 01 3q26.32 KCNMB3 C Potassium large conductance calcium-activated channel, subfamily M, beta member 3 605222 A, Psh, R
3.791 11 26 12 3q26.3-q27.3 APMR1 P Alopecia-mental retardation syndrome 1 203650 Fd max lod at D3S3583 Alopecia-mental retardation syndrome 1 (2)
3.792 5 24 13 3q29 ATP13A3, AFURS1 P ATPase, type 13A3 610232 REc
3.793 11 11 14 3q26.32 KCNMB2 P Potassium channel, calcium-activated, large conductance, subfamily M, beta member 2 605214 R, REc
3.794 5 11 16 3q26.32 TBL1XR1, TBLR1, IRA1, C21, MRD41 P Transducin-beta-like 1 receptor 1 608628 REc, R Mental retardation, autosomal dominant 41 , 616944 (3); Pierpont syndrome, 602342 (3)
3.795 3 27 13 3q26.32-q28 FAME4, FCMTE4 P Epilepsy, familial adult myoclonic, 4 615127 Fd between D3S3730 and D3S1580 Epilepsy, myoclonic, familial adult, 4 (2)
3.796 9 20 00 3q27.1 ABCC5, MRP5, MOATC C ATP-binding cassette, subfamily C, member 5 605251 R, A
3.797 2 17 09 3q27.3 ADIPOQ, APM1, GBP28, ADIPQTL1 P Adipocyte-, C1q-, and collagen domain-containing 605441 A, REc Adiponectin deficiency, 612556 (3) 16(Apm1)
3.798 1 25 18 3q27.3 AHSG, APMR1 C Alpha-2HS-glycoprotein 138680 F, S, D, REa, A, REn mutation identified in 1 APMR1 family ?Alopecia-mental retardation syndrome 1, 203650 (3)
3.799 6 22 04 3q27.1 ALG3, NOT56L, CDGS4, CDG1D P Alg3, S. cerevisiae, homolog of 608750 R Congenital disorder of glycosylation, type Id, 601110 (3)
3.800 9 9 14 3q27 AOMS1, SYNX P Abdominal obesity-metabolic syndrome QTL1 605552 Fd epistatic gene on 17p12 Abdominal obesity-metabolic syndrome 1 (2)
3.801 8 28 09 3q26.33 ATP11B, ATPIR C ATPase, class VI, type 11B 605869 REc
3.802 4 3 01 3q27.3 BCL6 P B-cell CLL/lymphoma-6 109565 Ch, A Lymphoma, B-cell (2) 16(Bcl6)
3.803 6 16 99 3q27.1 CHRD C Chordin 603475 R, REc, REn near THPO, CLCN2, EIF4G1 16(Chrd)
3.804 6 13 07 3q28 CLDN16, PCLN1, HOMG3 C Claudin 16 (paracellin 1) 603959 Fd Hypomagnesemia 3, renal, 248250 (3)
3.805 8 6 13 3q27.3 CRYGS, CRYG8, CTRCT20 C Crystallin, gamma S 123730 REa, Fd Cataract 20, multiple types, 116100 (3)
3.806 4 8 16 3q27.1 DVL3, DRS3 C Dishevelled 3 (homologous to Drosophila dsh) 601368 Psh, A Robinow syndrome, autosomal dominant 3, 616894 (3)
3.807 1 28 14 3q27.2 EHHADH, PBFE, LBFP, FRTS3 C Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase 607037 A, REn mutation identified in 1 family ?Fanconi renotubular syndrome 3, 615605 (3)
3.808 10 29 03 3q27.1 EIF2B5, LVWM, CACH, CLE C Eukaryotic translation initiation factor 2B, subunit 5 603945 Fd,R Leukoencephalopathy with vanishing white matter, 603896 (3); Ovarioleukodystrophy, 603896 (3)
3.809 4 10 15 3q27.1 EIF4G1, EIF4G, PARK18 C Eukaryotic translation initiation factor 4 gamma, 1 600495 Psh amplified in squamous cell lung cancer {Parkinson disease 18}, 614251 (3)
3.810 7 5 01 3q27.3 FETUB P Fetuin B 605954 REc
3.811 3 1 12 3q27.3 HRG, THPH11 C Histidine-rich glycoprotein 142640 REa, A, Fd, REn Thrombophilia due to HRG deficiency, 613116 (3); Thrombophilia due to elevated HRG, 613116 (1)
3.812 7 3 06 3q27.1 HTR3C P 5-hydroxytryptamine receptor 3C 610121 A, REn
3.813 7 3 06 3q27.1 HTR3D P 5-hydroxytryptamine receptor 3, subunit D 610122 A, REn
3.814 7 3 06 3q27.1 HTR3E P 5-hydroxytryptamine receptor 3, subunit E 610123 A, REn
3.815 10 28 08 3q27.3 KNG1, KNG C Kininogen 1 612358 Psh, A, REn [Kininogen deficiency], 228960 (3); [High molecular weight kininogen deficiency], 228960 (3)
3.816 11 30 06 3q27.1 MAPO6D1, SL21 P MAP6 domain-containing protein 1 610593 REc
3.817 1 19 07 3q27.2 MAP3K13, LZK C Mitogen-activated protein kinase kinase kinase 13 (leucine zipper-bearing kinase) 604915 R, REc
3.818 5 22 07 3q27.1 PARL P Presenilin-associated rhomboid-like protein 607858 R, REc
3.819 3 5 95 3q27.3 RFC4 P Replication factor C4, 37kD (activator 1, 37kD) 102577 Psh, A
3.820 2 28 03 3q27.3 RPL39L P Ribosomal protein L39-like 607547 REc
3.821 7 1 05 3q27.3 RTP4 P Receptor-transporting protein 4 609350 R, REc
3.822 1 19 07 3q27.2 SENP2, SMT3IP2, AXAM2, KIAA1331 P Sentrin-specific protease family, member 2 608261 R, REc
3.823 9 22 08 3q28 TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 C Tumor protein p63 (tumor protein p73-like) 603273 A, R Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3); Split-hand/foot malformation 4, 605289 (3); Hay-Wells syndrome, 106260 (3); ADULT syndrome, 103285 (3); Limb-mammary syndrome, 603543 (3); Rapp-Hodgkin syndrome, 129400 (3); Orofacial cleft 8, 129400 (3) 16(Trp63)
3.824 6 16 99 3q27.2-q27.3 DGKG, DAGK3 P Diacylglycerol kinase, gamma, 90-kD 601854 A
3.825 7 16 14 3q27.2 LIPH, LAH2, ARWH2, HYPT7 C Lipase H 607365 REc Hypotrichosis 7, 604379 (3); Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3)
3.826 10 10 14 3q27.3 MASP1, CRARF, 3MC1 P Mannan-binding lectin serine protease-1 (C4/C2 activating component of Ra-reactive factor) 600521 A 3MC syndrome 1, 257920 (3) 16(Crarf)
3.827 9 7 00 3q27-q28 SPG14 P Spastic paraplegia 14, autosomal recessive 605229 Fd Spastic paraplegia 14, autosomal recessive (2)
3.828 8 19 13 3q27.1 B3GNT5 P Beta-1,3-N-acetylglucosaminyltransferase 5 615333 REc
3.829 10 10 14 3q27.1 CAMK2N2, CAMKIIN P Calcium/calmodulin-dependent protein kinase II inhibitor 2 608721 R, REc
3.830 2 25 14 3q27.1 ECE2, KIAA0604 C Endothelin-converting enzyme 2 610145 REc, A, R
3.831 1 13 17 3q27.1 KLHL24, KRIP6, EBSSH P Kelch-like 24 611295 REc Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294 (3)
3.832 8 28 09 3q27.1 MIR1224, MIRN1224 P Micro RNA 1224 611620 REc
3.833 8 28 09 3q27.1 PSMD2, S2, TRAP2 P Proteasome 26S subunit, non-APTase, 2 606223 R, REc
3.834 4 26 10 3q27.1 YEATS2, KIAA1197 P YEATS domain-containing protein 2 613373 REc
3.835 3 23 14 3q27.3 DNAJB11, HEDJ, DJ9, ABBP2 P DNAJ/HSP40 homolog, subfamily B, member 11 611341 REc
3.836 9 7 11 3q27.1 KLHL6, FLJ00029 P Kelch-like 6 614214 REc
3.837 7 14 14 3q27.3 RTP1 P Receptor-transporting protein 1 609137 REc
3.838 7 14 14 3q27.3 RTP2 P Receptor-transporting protein 2 609138 REc
3.839 5 3 11 3q27.3 SNORA63, RNU107, RNE3 P Small nucleolar RNA, H/ACA box, 63 180647 REc
3.840 4 2 16 3q27.3 SNORA81 P Small nucleolar RNA, H/ACA box, 81 611334 REc in intron 3 of EIF2A
3.841 9 28 00 3q27.1 AP2M1, CLAPM1 P Adaptor-related protein complex 2, mu 1 subunit 601024 REa, A
3.842 8 20 15 3q28 CCDC50, C3orf6, DFNA44 C Coiled-coil domain-containing protein 50 611051 Fd, REc mutation identified in 1 DFNA44 family ?Deafness, autosomal dominant 44, 607453 (3)
3.843 5 28 08 3q28 CELIAC11 P Celiac disease, susceptibility to, 11 612009 Fd associated with rs1464510 {Celiac disease, susceptibility to, 11} (2)
3.844 8 28 09 3q27.3 EIF4A2 P Eukaryotic translation initiation factor-4A, isoform 2 601102 R, REc previously 18p11.2 by FISH 16(Eif4a2)
3.845 1 26 97 3q27.2 ETV5, ERM C ets variant gene 5 (ets-related molecule) 601600 A
3.846 4 26 17 3q28-q29 FGF12, FHF1, EIEE47 C Fibroblast growth factor-12 601513 REa, H, A Epileptic encephalopathy, early infantile, 47, 617166 (3) 16(Fhf1)
3.847 5 4 99 3q26.33 FXR1 P Fragile X mental retardation, autosomal homolog 600819 REa, A pseudogene on 12q12
3.848 1 30 12 3q28 GMNC, GEMC1 P Geminin coiled-coil domain-containing protein 614448 REc
3.849 8 6 07 3q27.2 IGF2BP2, IMP2 C Insulin-like growth factor 2 mRNA-binding protein 2 608289 R, Fd {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
3.850 11 4 98 3q28 IL1RAP P Interleukin 1 receptor accessory protein 602626 A, R
3.851 9 2 11 3q28 LNCR5 P Lung cancer susceptibility 5 614210 Fd associated with rs4488809 {Lung cancer susceptibility 5} (2)
3.852 10 1 95 3q27-q28 LPP P Lipoma-preferred-partner gene 600700 Ch, RE fused with HMGIC in lipoma; fused with MLL in leukemia Lipoma (3); Leukemia, acute myeloid, 601626 (3)
3.853 3 23 09 3q28 MIR28, MIRN28 P Micro RNA 28 612154 REc
3.854 6 19 01 3q27.1 POLR2H, RPB8 P Polymerase II, RNA, subunit H 606023 R
3.855 3 25 14 3q28 PYDC2, POP2 P Pyrin domain-containing protein 2 615701 REc
3.856 10 23 87 3q27.3 SST C Somatostatin 182450 REa 16(Smst)
3.857 8 27 12 3q28 TMEM207 P Transmembrane protein 207 614786 REc
3.858 7 19 06 3q28 CLDN1, SEMP1, ILVASC C Claudin 1 603718 REa, R, Fd Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
3.859 1 10 02 3q29 HRASLS P HRAS-like suppressor 606487 A
3.860 1 7 03 3q29 HES1, HRY P Hairy and enhancer of split, Drosophila, homolog of 139605 A
3.861 4 7 16 3q29 OPA1, NTG, NPG, BERHS, MTDPS14 C Optic atrophy 1 gene 605290 Fd, REc mutation identified in 1 MTDPS14 family Optic atrophy 1, 165500 (3); {Glaucoma, normal tension, susceptibility to}, 606657 (3); Optic atrophy plus syndrome, 125250 (3); Behr syndrome, 210000 (3); ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3) ?16(Bst)
3.862 2 25 15 3q29 ATP13A4 P ATPase, type 13A4 609556 A
3.863 1 24 13 3q29 BDH1, BDH P 3-hydroxybutyrate dehydrogenase 1 603063 REc
3.864 8 28 09 3q29 CENTB2, KIAA0041, ACAP2 P Centaurin, beta-2 607766 Psh, REc
3.865 3 23 14 3q29 CEP19, C3orf34, MOSPGF P Centrosomal protein, 19kD 615586 REc, Fd mutation identified in 1 family Morbid obesity and spermatogenic failure, 615703 (3)
3.866 8 22 05 3q29 CPN2 P Carboxypeptidase N, polypeptide 2, 83-KD 603104 A, H, Ch conflicting assignment to chr.8 16(Cpn2)
3.867 6 22 05 3q29 DLG1 C Discs, large, Drosophila, homolog of, 1 601014 REc deleted in 3q29 microdeletion syndrome 16(Dlgh1)
3.868 9 9 08 3q29 FBXO45, FBX45 P F-box only protein 45 609112 REc 16(Fbxo45)
3.869 5 2 16 3q29 FYTTD1, UIF P Forty-two-three domain-containing protein 1 616933 REc
3.870 8 8 13 3q29 GP5 P Glycoprotein V, platelet 173511 A
3.871 12 17 08 3q29 IQCG P IQ motif-containing protein G 612477 REc
3.872 7 14 14 3q29 LMLN P Leishmanolysin-like 609380 REc
3.873 2 22 07 3q29 LSG1 P Large subunit GTPase 1, S. cerevisiae, homolog of 610780 R, REc
3.874 10 23 87 3q29 MFI2, MAP97 P Melanoma-associated antigen p97 155750 S, A
3.875 4 15 08 3q29 DEL3q29, MICRODEL3q29 P Chromosome 3q29 microdeletion syndrome 609425 Ch contiguous gene deletion syndrome Chromosome 3q29 microdeletion syndrome (4)
3.876 5 24 13 3q29 MUC20 P Mucin 20, cell surface-associated 610360 REc
3.877 4 15 08 3q29 DUP3q29, MICRODUP3q29 P Chromosome 3q29 microduplication syndrome 611936 Ch contiguous gene duplication syndrome Chromosome 3q29 microduplication syndrome (4)
3.878 3 30 12 3q29 MIR570 P Micro RNA 570 614538 REc
3.879 8 8 91 3q29 MUC4 P Mucin 4, tracheobronchial 158372 REa, A
3.880 10 28 15 3q29 NCBP2, CBP20, NIP1 P Nuclear CAP-binding protein 2 605133 REc
3.881 7 22 13 3q29 NRROS, LRRC33 P Negative regulator of oxygen species 615322 REc
3.882 6 25 08 3q29 OSTA P Organic solute transporter, alpha 612084 REc 16(Osta)
3.883 2 3 15 3q28 P3H2, LEPREL1, MCVD P Prolyl 3-hydroxylase 2 610341 REc, H Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3) 16(Leprel1)
3.884 6 22 05 3q29 PAK2, PAK65 P p21-activated kinase 2 605022 REc deleted in 3q29 microdeletion syndrome
3.885 3 6 14 3q29 PCYT1A, CTPCT, PCYT1, SMDCRD P Phosphate cytidylyltransferase 1, choline, alpha isoform 123695 H, R Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3) 16(Ctpct)
3.886 9 9 10 3q29 PIGX P Phosphatidylinositol glycan, class X 610276 REc
3.887 12 17 07 3q29 PIGZ, SMP3 P Phosphatidylinositol glycan, class Z 611671 REc
3.888 5 8 97 3q29 PPP1R2, IPP2 P Protein phosphatase-1, regulatory (inhibitor) subunit 2 601792 A pseudogenes on chr. 5 and 6
3.889 4 1 09 3q29 RNF168 P RING finger protein 168 612688 REc RIDDLE syndrome, 611943 (3)
3.890 12 4 15 3q29 RUBCN, RUBICON, KIAA0226, SCAR15 P RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein 613516 REc, R mutation identified in 1 family ?Spinocerebellar ataxia, autosomal recessive 15, 615705 (3)
3.891 7 9 09 3q29 SENP5 P Sentrin-specific protease family, member 5 612845 REc
3.892 3 27 17 3q29 TCTEX1D2, SRTD17 P TCTEX1 domain-containing protein 2 617353 REc Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 (3)
3.893 1 8 16 3q29 TFRC, TFR, CD71, IMD46 C Transferrin receptor 190010 S, H, REa, A, R, F Immunodeficiency 46, 616740 (3) 16(Trfr)
3.894 8 28 09 3q29 TNK2, ACK, ACK1 P Tyrosine kinase, non-receptor, 2 606994 R, REc
3.895 6 19 15 3q29 UBXN7, KIAA0794 P UBX domain protein 7 616379 REc
3.896 3 14 13 3q29 WDR53 P WD repeat-containing protein 53 615110 REc
3.897 4 2 12 3q29 XXYLT1, C3orf21 P Xyloside xylosyltransferase 1 614552 REc
3.898 5 28 98 3p21.2 RPL29, HIP P Ribosomal protein L29 601832 Psh, R, A 9(Rpl29)
3.899 1 13 09 3q29 RPL35A, DBA5 P Ribosomal protein L35A 180468 REa, A previous assignment to chr.18 in error Diamond-Blackfan anemia 5, 612528 (3)
4.1 1 7 02 4p16.3 ADD1 C Adducin-1, alpha 102680 REa, REb {Hypertension, essential, salt-sensitive}, 145500 (3) 5(Add1)
4.2 9 8 11 4p16.3 ATP5I, ATP5K P ATP synthase, H+ transporting, mitochondrial FO complex, subunit E 601519 REc 5(Atp5k)
4.3 7 20 12 4p16.3 C4orf48 P chromosome 4 open reading frame 48 614690 REc
4.4 8 17 09 4p16.3 CPLX1, CPX1 P Complexin 1 605032 REc
4.5 12 10 13 4p16.3 CRIPAK, FLJ3443 P Cysteine-rich inhibitor of PAK1 610203 REc
4.6 3 25 03 4p16.3 D4S234E, D4S234 P D4S234E gene 607645 REc
4.7 10 15 98 4p16.3 DGKQ, DAGK4 P Diacylglycerol kinase, theta, 110kD 601207 REc, H 5(Dagk4)
4.8 12 5 16 4p16.3 FAM53A, DNTNP P Family with sequence similarity 53, member A 617229 REc
4.9 10 11 06 4p16.3 FGFR3, ACH C Fibroblast growth factor receptor-3 134934 REn, Fd Achondroplasia, 100800 (3); Hypochondroplasia, 146000 (3); Thanatophoric dysplasia, type I, 187600 (3); Crouzon syndrome with acanthosis nigricans, 612247 (3); Muenke syndrome, 602849 (3); Bladder cancer, somatic, 109800 (3); Colorectal cancer, somatic, 114500 (3); Cervical cancer, somatic, 603956 (3); LADD syndrome, 149730 (3); CATSHL syndrome, 610474 (3); Nevus, epidermal, somatic, 162900 (3); Thanatophoric dysplasia, type II, 187601 (3); Spermatocytic seminoma, somatic, 273300 (3); SADDAN, 616482 (3) 5(Fgfr3)
4.10 5 29 12 4p16.3 GRK4, GPRK2L, GPRK4 P G protein-coupled receptor kinase 4 137026 RE, H 5(Gprk2l)
4.11 11 1 10 4p16.3 HAUS3, DGT3, C4orf15 P HAUS augmin-like complex, subunit 3 613430 REc
4.12 4 20 17 4p16.3 HTT, HD, IT15, LOMARS C Huntingtin 613004 Fd distal to D4S10 Huntington disease, 143100 (3); Lopes-Maciel-Rodan syndrome, 617435 (3) 5(Hdh)
4.13 10 29 03 4p16.3 IDUA, IDA P Iduronidase, alpha-L- 252800 REa, A, S Mucopolysaccharidosis Ih, 607014 (3); Mucopolysaccharidosis Is, 607016 (3); Mucopolysaccharidosis Ih/s, 607015 (3) 5(Idua)
4.14 2 1 00 4p16.3 LETM1 P Leucine zipper/EF-hand-containing transmembrane protein 1 604407 A
4.15 9 30 13 4p16.3 LRPAP1, A2MRAP, MYP23 C Low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1) 104225 A, REn Myopia 23, autosomal recessive, 615431 (3)
4.16 9 22 17 4p16.3 LYAR P Ly1 antibody-reactive protein, mouse, homolog of 617684 REc 1(Lyar)
4.17 8 30 09 4p16.3 MAEA, EMP P Macrophage erythroblast attacher 606801 R, REc
4.18 11 30 11 4p16.3 MDCMP P Muscular dystrophy, congenital, merosin-positive 609456 Fd max lod at D4S432 Muscular dystrophy, congenital, merosin-positive (2)
4.19 3 22 93 4p16.3 MYL5 P Myosin, light polypeptide-5, regulatory 160782 RE
4.20 1 29 14 4p16.3 NAT8L, CML3, NACED P N-acetyltransferase 8-like 610647 REc mutation identified in 1 patient ?N-acetylaspartate deficiency, 614063 (3)
4.21 2 16 18 4p16.3 NKX1-1, SAX2 P NK1 homeobox 1 617869 REc
4.22 4 20 17 4p16.3 NSD2, WHSC1, MMSET P Nuclear receptor-binding SET domain protein 2 602952 REc, Ch
4.23 7 13 09 4p16.3 NOP14, NOL14, RES425 P Nop14, S. cerevisiae, homolog of 611526 REc
4.24 6 27 17 4p16.3 PCGF3, RNF3, RNF3A P Polycomb group RING finger protein 3 617543 REc
4.25 12 22 09 4p16.3 PDE6B, PDEB, RP40, CSNBAD2 C Phosphodiesterase-6B, cGMP-specific, rod, beta 180072 REa, A, Fd Night blindness, congenital stationary, autosomal dominant 2, 163500 (3); Retinitis pigmentosa-40, 613801 (3) 5(Pdeb, rd)
4.26 5 2 16 4p16.3 PIGG, GPI7, MRT53 P Phosphatidylinositol glycan anchor biosynthesis class G protein 616918 REc Mental retardation, autosomal recessive 53, 616917 (3)
4.27 11 20 98 4p16.3 RNF4 P RING finger protein-4 602850 REn
4.28 6 9 08 4p16.3 RNF212, ZHP3 P Ring finger protein 212 612041 REn Recombination rate QTL 1, 612042 (3)
4.29 5 30 01 4p16.3 SH3BP2, CRPM C SH3-domain binding protein 2 602104 REn, Fd Cherubism, 118400 (3)
4.30 3 27 01 4p16.3 SLBP, HBP P Histone stem-loop binding protein 602422 REc
4.31 7 1 16 4p16.3 SLC26A1, SAT1, CAON P Solute carrier family 26 (sulfate transporter), member 1 610130 R mutation identified in 1 CAON patient ?Nephrolithiasis, calcium oxalate, 167030 (3)
4.32 5 11 01 4p16.3 SPON2 P Spondin 2 605918 R
4.33 5 5 15 4p16.3 TACC3 P Transforming, acidic, coiled-coil-containing protein 3 605303 Psh, R 5(Tacc3)
4.34 5 22 07 4p16.3 TETRAN, TPO1 P Tetracycline transporter-like protein 610977 REc
4.35 9 22 14 4p16.3 TMEM129 P Transmembrane protein 129 615975 REc
4.36 11 24 15 4p16.3 TMEM175 P Transmembrane protein 175 616660 REc
4.37 12 29 06 4p16.3 TNIP2, ABIN2, FLIP1 P TNFAIP3-interacting protein 2 610669 R, REc
4.38 5 26 12 4p16.3 UVSSA, KIAA1530, UVSS3 C UV-stimulated scaffold protein A 614632 R, REc UV-sensitive syndrome 3, 614640 (3)
4.39 6 10 10 4p16.3 WHS C Wolf-Hirschhorn syndrome 194190 Ch contiguous gene syndrome; critical region 200kb region 1.9Mb from telomere Wolf-Hirschhorn syndrome (4)
4.40 6 10 10 4p16.3 WHSC2 P WHS candidate 2 gene 606026 REc
4.41 2 25 15 4p16.3 ZBTB49, ZNF509 P Zinc finger- and BTB domain-containing protein 49 616238 REc
4.42 5 13 13 4p16.3 ZNF141, D4S90, PAPA6 P Zinc finger protein-141 (clone pHZ-44) 194648 Psh, A, Ch 1 family identified with mutation ?Polydactyly, postaxial, type A6, 615226 (3)
4.43 1 18 12 4p16.2 CYTL1, C17 P Cytokine-like protein 1 607930 R, REc
4.44 4 30 15 4p16.3 DOK7, C4orf25, CMS10 C Downstream of tyrosine kinase 7 610285 REc mutation identified in 1 FADS family Myasthenic syndrome, congenital, 10, 254300 (3); ?Fetal akinesia deformation sequence, 208150 (3)
4.45 5 23 13 4p16.1 JAKMIP1, JAMIP1, MARLIN1 P Janus kinase and microtubule-interacting protein 1 611195 REc
4.46 6 12 14 4p16.3 OTOP1 P Otopetrin 1 607806 REc, H 5(Otop1)
4.47 4 17 07 4p16.3 POLN P Polymerase, DNA, nu 610887 REc, H 5(Poln)
4.48 7 16 13 4p16.3 RGS12 P Regulator of G protein signaling 12 602512 REc, H 5(Rgs12)
4.49 2 23 09 4p16.3 ADRA2C, ADRA2L2 C Adrenergic, alpha-2C-, receptor 104250 REa, Fd linked to D4S10 {Congestive heart failure and beta-blocker response, modifier of} (3)
4.50 1 5 12 4p16.1 AFAP1, AFAP, AFAP110 P Actin filament-associated protein 1 608252 REc
4.51 4 17 13 4p16.1 BLOC1S4, BLOS4, CNO P Biogenesis of lysosome-related organelles complex 1, subunit 4 605695 R, REc, H 5(cno)
4.52 1 11 16 4p15.33 BOD1L1, FAM44A P BOD1-like protein 1 616746 REc
4.53 7 17 14 4p16.1 CLNK, MIST P Cytokine-dependent hematopoietic cell linker 611434 REc
4.54 6 19 12 4p16.1 CPZ P Carboxypeptidase Z 603105 REc
4.55 8 30 09 4p16.1 GPR78 P G protein-coupled receptor 78 606921 REc
4.56 6 27 08 4p16.1 HMX1, H6 P Homeo box (H6 family) 1 142992 Psh, Fd Oculoauricular syndrome, 612109 (3) 5(Hmx1)
4.57 1 16 07 4p16.1 HTRA3, PRSP P HTRA serine peptidase 3 608785 REc
4.58 4 21 16 4p16.1 MRFAP1, PAM14, PGR1` P MORF4 family- associated protein 1 616905 REc
4.59 12 17 12 4p16.2 MSX1, HOX7, HYD1, OFC5, STHAG1, ECTD3 C Muscle segment homeo box, Drosophila, homolog of, 1 (homeo box 7) 142983 REa, A, D, Fd Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3); Orofacial cleft 5, 608874 (3); Ectodermal dysplasia 3, Witkop type, 189500 (3) 5(Hox7)
4.60 4 13 10 4p15.33 NKX3-2, BAPX1, SMMD C Bagpipe homeo box, Drosophila, homolog of 602183 Fd Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3) 5(Bapx1)
4.61 8 30 09 4p16.1 SORCS2, KIAA1329 P SORCS receptor 2 606284 R, REc
4.62 4 26 10 4p16.1 TADA2B, ADA2B P Transcriptional adaptor 2B 608790 REc
4.63 10 11 12 4p16.1 TBC1D14, KIAA1322 P TBC1 domain family, member 14 614855 R, REc
4.64 7 21 15 4p16.1 USP17L9P, USP17 P Ubiquitin-specific protease 17-like family member 9, pseudogene 607011 A
4.65 1 14 14 4p16.1 WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41 C Wolframin 606201 Fd mutation identified in 1 CTRCT41 family Wolfram syndrome 1, 222300 (3); Deafness, autosomal dominant 6/14/38, 600965 (3); Wolfram-like syndrome, autosomal dominant, 614296 (3); {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3); ?Cataract 41, 116400 (3)
4.66 10 25 17 4p16.1 ZNF518B, KIAA1729 P Zinc finger protein 518B 617734 REc
4.67 4 8 98 4p16.2 CRMP1, DPYSL1, DRP1 P Collapsin response mediator protein-1 602462 REc
4.68 2 10 04 4p16.1 DRD5, DRD1B, DRD1L2 C Dopamine receptor D5 126453 REa, A, REc, R, Psh, Fd pseudogenes on 2p11 and 1q21 {Blepharospasm, primary benign}, 606798 (3); Dystonia, primary cervical (3); {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3) 5(Drd5)
4.69 1 24 09 4p16.1 ABLIM2, KIAA1808 P Actin-binding LIM protein family, member 2 612544 REc, H 5(Ablim2)
4.70 7 8 95 4p16 CRSA, CRS3 P Craniosynostosis, Adelaide type 600593 Fd Craniosynostosis, Adelaide type (2)
4.71 3 27 18 4p16.3 CTBP1, HADDTS P C-terminal binding protein 1 602618 R Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3)
4.72 4 10 17 4p16.2 EVC P EVC gene 604831 Fd mutation identified in 1 WAD patient Ellis-van Creveld syndrome, 225500 (3); ?Weyers acrofacial dysostosis, 193530 (3)
4.73 4 26 01 4p16.3 FGFRL1 P Fibroblast growth factor receptor-like 1 605830 A
4.74 3 9 98 4p16.3 GAK P Cyclin G associated kinase 602052 A
4.75 3 11 09 4p16.1 GRPEL1, HMGE P GrpE, E. coli, homolog of 606173 REc
4.76 5 4 00 4p16.3 HGFAC, HGFA P Hepatocyte growth factor activator 604552 A, REa
4.77 5 7 03 4p15.32 KSP37 P Killer-specific secretory protein, 37kD 607713 REc
4.78 5 8 15 4p16.2 EVC2, LBN, WAD C EVC2 (limbin) gene 607261 H, REc, Fd Ellis-van Creveld syndrome, 225500 (3); Weyers acrofacial dysostosis, 193530 (3) 5(Lbn)
4.79 1 13 09 4p16 PLSA1, PLSA P Primary lateral sclerosis, adult, 1 611637 Fd max lod at D4S2936 Primary lateral sclerosis, adult, 1 (2)
4.80 7 2 01 4p16.1 PPP2R2C, PR52 P Protein phosphatase 2A, regulatory subunit B, gamma isoform 605997 R
4.81 7 8 95 4p16.1 S100P P S100 calcium-binding protein P 600614 A
4.82 9 6 11 4p16.3 ZFYVE28, LST2, KIAA1643 P Zinc finger FYVE domain-containing protein 28 614176 R, REc
4.83 1 24 09 4p16.1 SLC2A9, GLUT9, UAQTL2 P Solute carrier family 2 (facilitated glucose transporter), member 9 606142 Psh, R {Uric acid concentration, serum, QTL 2}, 612076 (3); Hypouricemia, renal, 2, 612076 (3)
4.84 12 21 00 4p16-p15.2 SLEB3 P Systemic lupus erythematosus, susceptibility to, 3 605480 Fd {Systemic lupus erythematosus, susceptibility to, 3} (2)
4.85 2 26 08 4p16-p15 MNDEC P Microtia with nasolacrimal duct imperforation and eye coloboma 611863 REn copy number variant (CNV) association Microtia with nasolacrimal duct imperforation and eye coloboma (1)
4.86 4 27 12 4p16-p15 SPG38 P Spastic paraplegia 38, autosomal dominant 612335 Fd between D4S432 and D4S1599 Spastic paraplegia 38, autosomal dominant (2)
4.87 4 22 10 4p16-q34 INTLQ1 P Intelligence quantitative trait locus 1 603783 Fd associated with D4S2943, MSX1, and D4S1607 {Intelligence QTL1} (2)
4.88 8 30 09 4p15.32 FBXL5, FBL5 P F-box and leucine-rich repeat protein 5 605655 R, REc
4.89 7 18 14 4p15.33 HS3ST1, 3OST, 3OST1 P Heparan sulfate (glucosamine)3-O-sulfotransferase 1 603244 REc
4.90 9 9 13 4p15.33 RAB28, CORD18 P Ras-associated protein 28 612994 REc Cone-rod dystrophy 18, 615374 (3)
4.91 1 13 11 4p15.32 BST1 P Bone marrow stromal cell antigen 1 600387 REc previously assigned to 14q32.3
4.92 5 24 13 4p15.32 MED28, EG1, MAGICIN P Mediator complex subunit 28 610311 REc
4.93 4 8 16 4p15.32 TAPT1, CMVFR, OCLSBG P Transmembrane anterior posterior transformation 1 612758 REc Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3) 5(Tapt1)
4.94 1 13 09 4p15.2 GBA3, CBGL1 C Glucosidase, beta, acid 3 606619 R, REc
4.95 1 29 16 4p15.31 MIR218-1 C Micro RNA 218-1 616770 REn, REc within intron of SLIT2 5(Mir218-1)
4.96 4 15 09 4p15.32 QDPR, DHPR C Quinoid dihydropteridine reductase 612676 S, A, REa, D Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) 5(Qdpr)
4.97 5 25 16 4p15.2 SLC34A2 C Solute carrier family 34 (sodium/phosphate cotransporter), member 2 604217 REc, Fd Pulmonary alveolar microlithiasis, 265100 (3)
4.98 1 12 99 4p16.1 ACOX3 P Acyl-coenzyme A oxidase 3, pristanoyl 603402 A
4.99 7 8 10 4p15.32 CC2D2A, KIAA1345, MKS6 C Coiled-coil and C2 domains-containing protein 2A 612013 REc Joubert syndrome 9, 612285 (3); Meckel syndrome 6, 612284 (3); COACH syndrome, 216360 (3)
4.100 4 30 09 4p15.2 DHX15, DDX15, DBP1, HRH2 P DEAH (Asp-Glu-Ala-His) box polypeptide 15 603403 A
4.101 8 30 09 4p15.32 FGFBP1, FGFBP, HBP17 P Fibroblast growth factor-binding protein 1 607737 R, REc
4.102 11 13 01 4p15.3 HDL3, HLN2 P Huntington disease-like 3 604802 Fd Huntington disease-like 3 (2)
4.103 10 29 03 4p15.3-p15.2 KCNIP4, KCHIP4 P Kv channel-interacting protein 4 608182 REc
4.104 8 30 09 4p15.31 NCAPG, CAPG P Non-SMC condensin I complex subunit G 606280 R, REc
4.105 2 17 09 4p15.31 LCORL, MLR1 C Ligand-dependent nuclear receptor corepressor-like protein 611799 R, REc
4.106 3 23 09 4p15.32 PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4 C Prominin 1 604365 Fd, REc Retinitis pigmentosa 41, 612095 (3); Cone-rod dystrophy 12, 612657 (3); Stargardt disease 4, 603786 (3); Macular dystrophy, retinal, 2, 608051 (3)
4.107 2 17 09 4p15.3 STQTL13 P Stature quantitative trait locus 13 612226 Fd associated with rs16896068 {Stature QTL 13} (2)
4.108 12 1 03 4p15.2 SOD3 C Superoxide dismutase-3, extracellular 185490 REa, R, Fd, A [Superoxide dismutase, elevated extracellular] (3)
4.109 8 30 09 4p15.2 ANAPC4, APC4 P Anaphase-promoting complex, subunit 4 606947 R, REc
4.110 9 1 16 4p15.2 ADGRA3, GPR125 P Adhesion G protein-coupled receptor A3 612303 REc
4.111 12 4 03 4p15.2 LGI2, KIAA1916 P Leucine-rich gene, glioma-inactivated, 2 608301 REc
4.112 6 27 08 4p15.2 PI4K2B P Phosphatidylinositol 4-kinase, type 2, beta 612101 R, REc
4.113 9 10 12 4p15.2 RBPJ, RBPSUH, IGKJRB1, AOS3 P Recombination signal-binding protein 1 for kappa J region 147183 REc pseudogenes at 9q13, 9p13, and 3q25 Adams-Oliver syndrome 3, 614814 (3) 5(Rbpsuh)
4.114 3 28 11 4p15.2 SEPSECS, SLA, LP, PCH2D P O-phosphoserine tRNA-selenocysteine tRNA synthase 613009 R, REc Pontocerebellar hypoplasia type 2D, 613811 (3)
4.115 4 26 17 4p15.2 SMIM20, MITRAC7, C4orf52 P Small integral membrane protein 20 617465 REc
4.116 2 2 01 4p15.31 SLIT2 P Slit, Drosophila, homolog of, 2 603746 A
4.117 2 14 08 4p15.2 ZCCHC4 P Zinc finger CCHC domain-containing protein 4 611792 R, REc
4.118 6 15 99 4p15.2 CCKAR C Cholecystokinin A receptor 118444 Psh, H, A 5(Cckar)
4.119 3 27 09 4p15.2 PPARGC1A, PPARGC1 P Peroxisome proliferator-activated receptor-gamma, coactivator 1, alpha 604517 R
4.120 3 12 07 4p15.2 STIM2, KIAA1482 P Stromal interaction molecule 2 610841 REc, R, H 5(Stim2)
4.121 3 1 01 4p14 UGDH, UDPGDH P UDP-glucose dehydrogenase 603370 H, R 5(Udgh)
4.122 9 9 03 4p14 KLHL5 P Kelch-like 5 608064 REc
4.123 4 23 08 4p15.1-q12 NPC1, NPCA1 P Nasopharyngeal carcinoma 1 607107 Fd ?associated with acyl-CoA thioesterase 7-like {Nasopharyngeal carcinoma 1} (2)
4.124 5 22 03 4p14 CHRNA9 P Cholinergic receptor, neuronal nicotinic, alpha polypeptide 9 605116 A, R
4.125 3 20 06 4p14 TBC1D1, KIAA1108 P TBC1 domain family, member 1 609850 REa, H 5(Tbc1d1)
4.126 5 9 95 4p15.32 CD38 C CD38 antigen (p45); ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 107270 S, A
4.127 10 7 02 4p15 EPPS P Epilepsy, partial, with pericentral spikes 607221 Fd Epilepsy, partial, with pericentral spikes (2)
4.128 2 4 99 4p15.32 LDB2, CLIM1 C LIM domain-binding factor-2 603450 R
4.129 10 26 11 4p16.1 METTL19 P Methyltransferase-like 19 614309 REc
4.130 11 20 98 4p15.1 PCDH7, BHPCDH P Protocadherin-7 602988 Psh
4.131 10 08 08 4p15-p14 BMIQ7 P Body mass index quantitative trait locus 7 608410 near D4S2912 {Obesity, susceptibility to, BMIQ7} (2)
4.132 4 14 05 4p14-p13 APBB2, FE65L1 C Amyloid beta A4 precursor protein-binding, family B, member 2 (Fe65-like 1) 602710 R, REc
4.133 8 30 09 4p14 ARAP2, CENTD1, KIAA0580 P ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 606645 R, REc
4.134 6 16 16 4p14 DTHD1 P Death domain-containing protein 1 616979 REc
4.135 11 20 98 4p14 HIP2 P Huntingtin-interacting protein-2 602846 A
4.136 9 10 07 4p14 KLB, BKL P Klotho, beta 611135 REc
4.137 12 6 16 4p14 KLF3, BKLF P Kruppel-like factor 3 609392 REc
4.138 3 20 16 4p14 LIAS, PDHLD, HGCLAS P Lipoic acid synthase 607031 REc Hyperglycinemia, lactic acidosis, and seizures, 614462 (3)
4.139 12 10 13 4p14 MIR574, MIR574-3p P Micro RNA 574 615469 REc
4.140 5 30 17 4p14 NSUN7 P NOP2/SUN RNA methyltransferase family, member 7 617185 REc
4.141 10 3 11 4p14 PDS5A, KIAA0648, SCC112 C PDS5, regulator of cohesion maintenance, S. Cerevisiae, homolog of, A 613200 R, REc
4.142 5 26 13 4p14 RELL1 P Relt-like 1 611212 R, REc
4.143 2 21 10 4p14 TLR1, TIL. LPRS5 P Toll-like receptor-1 601194 A {Leprosy, protection against}, 613223 (3); {Leprosy, susceptibility to, 5}, 613223 (3)
4.144 8 30 09 4p14 TLR6 P Toll-like receptor 6 605403 REc 5(Tlr6)
4.145 2 15 17 4p13 UCHL1, PARK5, SPG79, NDGOA C Ubiquitin C-terminal esterase L1 191342 A, Psh mutation identified in 1 PARK5 family {?Parkinson disease 5, susceptibility to}, 613643 (3); Spastic paraplegia 79, autosomal recessive, 615491 (3)
4.146 1 9 13 4p14 UCH1LAS P Ubiquitin carboxyl-terminal esterase L1, antisense 614991 REn
4.147 3 5 95 4p14 RFC1, RECC1 C Replication factor C1, 145kD (activator 1, 145kD) 102579 A 5(Rfc1)
4.148 4 23 08 4p14 LOC344967 P Acyl-CoA thioesterase 7-like 611963 REc ?associated with nasopharyngeal carcinoma
4.149 4 10 15 4p14 WDR19, SRTD5, ATD5, NPHP13, CED4 P WD repeat-containing protein 19 608151 R mutation identified in 1 CED4 family and 1 SRTD5 family Nephronophthisis 13, 614377 (3); ?Cranioectodermal dysplasia 4, 614378 (3); ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3); Senior-Loken syndrome 8, 616307 (3)
4.150 5 16 95 4p12 GABRA4 P Gamma-aminobutyric acid (GABA) A receptor, alpha-4 137141 Psh cluster with GABRA2, B1, G1; ?involved in autism 7(Gabra4)
4.151 10 23 87 4p14 PGM2 C Phosphoglucomutase-2 172000 S 5(Pgm1)
4.152 1 30 91 4q21.21 BMP3 P Bone morphogenetic protein-3 112263 H, REa 5(Bmp3)
4.153 8 21 92 4p12 GABRG1 P Gamma-aminobutyric acid (GABA) A receptor, gamma-1 137166 Psh, REl
4.154 3 5 98 4p14 ARHH, TTF P Ras homolog gene family, member H 602037 A
4.155 2 19 10 4p12 GNPDA2, GNP2 P Glucosamine-6-phosphate deaminase 2 613222 REc
4.156 2 25 10 4p13 GRXCR1 P Glutaredoxin, cysteine-rich, 1 613283 REc, H Deafness, autosomal recessive 25, 613285 (3) 5(Grxcr1)
4.157 10 30 17 4p13 LIMCH1, LMO7B P LIM and calponin homology domains-containing protein 1 617750 REc
4.158 6 15 99 4p14 RPL9 P Ribosomal protein L9 603686 Psh, A pseudogene on Xpter-p21
4.159 2 2 17 4p13 SHISA3 P Shisa family, member 3 617325 REc
4.160 8 8 17 4p13 SLC30A9, C4orf1, HUEL, BILAPES P Solute carrier family 30 (zinc transporter), member 9 604604 A mutation identified in 1 BILAPES family ?Birk-Landau-Perez syndrome, 617595 (3)
4.161 1 25 12 4p12 GABRA2 P Gamma-aminobutyric acid (GABA) A receptor, alpha-2 137140 A {Alcohol dependence, susceptibility to}, 103780 (3) 5(Gabra2)
4.162 10 12 16 4p12 GABRB1, EIEE45 P Gamma-aminobutyric acid (GABA) A receptor, beta-1 137190 A, Fd Epileptic encephalopathy, early infantile, 45, 617153 (3) 5(Gabrb1)
4.163 1 6 09 4p13-q21 NRCLP2 P Narcolepsy 2 605841 Fd max lod at D4S2987 Narcolepsy 2 (2)
4.164 11 20 15 4p12 COMMD8 P COMM domain-containing protein 8 616656 REc
4.165 4 27 12 4p12 CORIN, CRN, TMPRSS10, ATC2, PEE5 P Corin, serine peptidase 605236 A, REc Preeclampsia/eclampsia 5, 614595 (3)
4.166 4 21 10 4p12 COX7B2 P Cytochrome C oxidase subunit VIIb2 609811 REc
4.167 8 10 16 4p12 GUF1, EF4, EIEE40 P GTPase, S. cerevisiae, homolog of 617064 REc mutation identified in 1 EIEE40 family ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
4.168 1 31 18 4p13 PHOX2B, NBPHOX, PMX2B, NBLST2, CCHS P Paired mesoderm homeo box 2B 603851 R Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3); {Neuroblastoma, susceptibility to, 2}, 613013 (3); Neuroblastoma with Hirschsprung disease, 613013 (3)
4.169 10 22 99 4p14 PTTG2 P Pituitary tumor-transforming gene 2 604231 R
4.170 12 13 95 4p12-p11 TEC P tec protein tyrosine kinase 600583 A
4.171 10 12 94 4p12 TXK, BTKL C TXK tyrosine kinase 600058 A 5(Txk)
4.172 3 10 11 4p12 CNGA1, CNCG1, RP49 C Cyclic nucleotide gated channel, alpha 1 123825 REa, Psh Retinitis pigmentosa 49, 613756 (3) 5(Cncg)
4.173 2 25 15 4p11 SLAIN2, KIAA1458 P SLAIN motif family, member 2 610492 REc, R, H 5(Slain2)
4.174 8 31 09 4p11 ZAR1 P Zygote arrest 1 607520 REc 5(Zar1)
4.175 10 23 87 4p15.32 PEPS C Peptidase S 170250 S, EM 5(Pep7)
4.176 6 16 99 4p MHW1 P Mental health wellness 1 603663 Fd at D4S2949 {Mental health wellness-1} (2)
4.177 12 14 00 4p16.1 WDR1 P WD repeat-containing protein 1 604734 R
4.178 6 16 99 4q MHW2 P Mental health wellness 2 603664 Fd at D4S397 {Mental health wellness-2} (2)
4.179 10 8 96 4q PSORS3 P Psoriasis susceptibility 3 601454 Fd {Psoriasis susceptibility 3} (2)
4.180 9 20 00 4q25 RRH L Rhodopsin homolog, retinal pigment epithelium-derived (peropsin) 605224 H 3(Rrh)
4.181 2 28 07 4q WM2 P Macroglobulinemia, Waldenstrom, susceptibility to, 2 610430 Fd between D4S2910 and D4S1539 {Macroglobulinemia, Waldenstrom, susceptibility to, 2} (2)
4.182 12 17 07 4q12 PDCL2 P Phosducin-like 2 611676 REc 5(Pdcl2)
4.183 5 5 00 4q12 CHIC2, BTL P Cysteine-rich hydrophobic domain 2 (Brx-like gene translocated in leukemia) 604332 Ch {Leukemia, acute myeloid}, 601626 (3)
4.184 8 30 09 4q12 HOPX, HOP P HOP homeobox 607275 R, REc
4.185 7 15 09 4q12 SPATA18, SPETEX1 P Spermatogenesis-associated protein 18 612814 REc
4.186 10 12 94 4q13.3 AFM, ALBA, ALB2 C Afamin 104145 REn, Psh 10kb 3' of AFP
4.187 9 20 14 4q13.3 AFP, HPAFP, AFPD C Alpha-fetoprotein 104150 H, A, Fd, F order: 5'-ALB-3'--5'-AFP-3' [Hereditary persistence of alpha-fetoprotein], 615970 (3); Alpha-fetoprotein deficiency, 615969 (3) 5(Afp)
4.188 9 10 14 4q13.3 ALB, ANALBA, FDAH C Albumin 103600 F, A, REa linked to GC Analbuminemia, 616000 (3); [Dysalbuminemic hyperthyroxinemia], 615999 (3) 5(Alb1)
4.189 10 23 87 4q13.3 STATH P Statherin 184470 REa
4.190 12 5 11 4q12 AASDH, ACSF4 P Aminoadipate-semialdehyde dehydrogenase 614365 REc
4.191 12 18 08 4q12 ARL9 P ADP-ribosylation factor-like 9 612405 REc
4.192 5 3 17 4q12 CEP135, KIAA0635, MCPH8 P Centrosomal protein, 135kD 611423 REc Microcephaly 8, primary, autosomal recessive, 614673 (3)
4.193 8 27 01 4q12 CLOCK P Circadian locomotor output cycles kaput 601851 R, H 5(Clock)
4.194 6 1 12 4q12 DANCR, ANCR, KIAA0114 P Differentiation-antagonizing noncoding RNA 614625 REc, R
4.195 9 9 09 4q12 DCUN1D4, KIAA0276 P DCN1 domain-containing protein 4 612977 R, REc
4.196 7 7 09 4q12 EXOC1, SEC3 P Exocyst complex component 1 607879 R, REc
4.197 5 28 03 4q12 FIP1L1 P Fip1-like 1 607686 REn, REc fused to PDGFRA in hypereosinophilic syndrome
4.198 9 4 14 4q13.3 GC, DBP C Group-specific component (vitamin D-binding protein) 139200 F, Fc, H, D, Ch, REa, A 4q13-q21.1 by in situ hybridization 5(Gc)
4.199 12 4 03 4q13.2 GRINL1B P Glutamate receptor, ionotropic, N-methyl D-aspartate-like 1B 608311 A
4.200 3 23 15 4q12 GSX2, GSH2 P GS homeobox 2 616253 REc
4.201 9 14 11 4q12 IGFBP7, MAC25, RAMSVPS P Insulin-like growth factor-binding protein-7 602867 A, Psh Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)
4.202 12 28 08 4q12 LNX1, LNX, PDZRN2 P Ligand of numb protein X1 609732 R
4.203 6 1 12 4q12 MIR4449 P Micro RNA 4449 614627 REc
4.204 7 18 06 4q12 MYP9 P Myopia 9 609258 Fd Myopia 9 (2)
4.205 11 9 99 4q12 SGCB, LGMD2E C Sarcoglycan, beta (43kD dystrophin-associated glycoprotein) 600900 Psh, A, Fd, LD Muscular dystrophy, limb-girdle, type 2E, 604286 (3)
4.206 12 24 08 4q12 KDR C Kinase insert domain receptor 191306 REa, A, REn ?mutant in TAPVR1 Hemangioma, capillary infantile, somatic, 602089 (3); {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
4.207 7 24 17 4q12 KIT, PBT C Hardy-Zuckerman 4 feline sarcoma (v-kit) oncogene 164920 REa, A, H, Ch, H, REn same 700bp segment as PDGFRA Piebaldism, 172800 (3); Gastrointestinal stromal tumor, familial, 606764 (3); Mast cell disease, 154800 (3); Leukemia, acute myeloid, 601626 (3); Germ cell tumors, somatic, 273300 (3) 5(Kit; W)
4.208 12 12 12 4q12 NOA1, C4orf14 P Nitric oxide-associated protein 1 614919 REc
4.209 6 16 94 4q12 PAICS, AIRC P Phosphoribosylaminoimidazole carboxylase 172439 S, REn bifunctional enzyme; ade-D; 625bp from PPAT
4.210 4 11 03 4q12 PDGFRA C Platelet-derived growth factor receptor, alpha polypeptide 173490 A, REa, REn same 700bp segment as KIT; fused to BCR or FIP1L1 Gastrointestinal stromal tumor, somatic, 606764 (3); Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3) 5(Pdgfra)
4.211 5 2 94 4q12 POL2RB P Polymerase (RNA) II (DNA directed) polypeptide B, 140kD 180661 A
4.212 6 16 94 4q12 PPAT, GPAT P Phosphoribosylpyrophosphate amidotransferase 172450 S, H, A
4.213 12 18 08 4q12 RASL11B P RAS-like, family 11, member B 612404 REc
4.214 8 15 17 4q12 REST, NRSF, WT6, GINGF5, HGF5 P RE1-silencing transcription factor 600571 R, REc {Wilms tumor 6, susceptibility to}, 616806 (3); Fibromatosis, gingival, 5, 617626 (3)
4.215 6 1 12 4q12 SNORA26 P Small nucleolar RNA, H/ACA box, 26 614626 REc, R
4.216 11 19 11 4q12 SPINK2 P Serine protease inhibitor, Kazal-type, 2 605753 Psh, REc
4.217 1 5 12 4q12 SRD5A3, SRD5A2L, CDG1Q, KRIZI C Steroid 5-alpha-reductase 3 611715 REc, Fd Congenital disorder of glycosylation, type Iq, 612379 (3); Kahrizi syndrome, 612713 (3)
4.218 4 10 14 4q12 SRP72, BMFS1 P Signal recognition particle, 72kD 602122 R, REc Bone marrow failure syndrome 1, 614675 (3)
4.219 1 22 07 4q12 TAPVR1 C Total anomalous pulmonary venous return 1 106700 Fd between D4S1630 and D4S3019; ?mutation in KDR Total anomalous pulmonary venous return (2)
4.220 7 18 12 4q12 TMEM165, FT27, CDG2K P Transmembrane protein 165 614726 REc Congenital disorder of glycosylation, type IIk, 614727 (3)
4.221 7 9 09 4q12 USP46 P Ubiquitin-specific peptidase 46 612849 REc
4.222 8 28 02 4q13.3 CXCL1, GRO1, MGSA C Chemokine, C-X-C, ligand 1 (GRO1 oncogene; melanoma growth stimulating activity, alpha) 155730 REa, A apparently cluster of 3 GRO genes 5(Mgsa)
4.223 8 29 02 4q13.3 CXCL2, GRO2, MIP2A P Chemokine, C-X-C motif, ligand 2 (GRO2 oncogene) 139110 REa, A 5(Mip2a)
4.224 8 29 02 4q13.3 CXCL3, GRO3, MIP2B P Chemokine, C-X-C motif, ligand 3 (GRO3 oncogene) 139111 REa, A 5(Mip2b)
4.225 8 30 02 4q13.3 CXCL5, SCYB5, ENA78 P Chemokine, C-X-C motif, ligand 5 (epithelial-derived neutrophil-activating peptide 78) 600324 Psh, REc
4.226 8 30 02 4q13.3 CXCL6, SCYB6, GCP2 P Chemokine, C-X-C motif, ligand 6 (granulocyte chemotactic protein-2) 138965 Psh, REc
4.227 4 30 97 4q13.3 IL8 P Interleukin-8 146930 REa, A
4.228 10 6 92 4q13.3 PF4 C Platelet factor 4 173460 REa, A, REn 6kb from PF4V1
4.229 10 6 92 4q13.3 PF4V1 C Platelet factor 4, variant 1 (PF4-like) 173461 A, REa, REn same region as PF4 and IP10
4.230 8 25 11 4q13.3 PPBP, CXCL7, SCYB7, CTAP3, TGB C Pro-platelet basic protein 121010 Psh, A, REn less than 7kb from PF4
4.231 6 18 04 4q13.3 PPBPL1, TGB2 P Pro-platelet basic protein-like 1 (thromboglobulin, beta-2) 188035 REn in cluster with PPBP, PF4, and PF4V1
4.232 11 19 11 4q12-q13.1 MRT31 P Mental retardation, autosomal recessive 31 614329 Fd between rs11944876 and rs6551838 Mental retardation, autosomal recessive 31 (2)
4.233 12 4 08 4q12-q13.1 DFNA27 P Deafness, autosomal dominant 27 612431 Fd max lod at D4S398 Deafness, autosomal dominant 27 (2)
4.234 3 13 06 4q12-q13.2 DFNB55 P Deafness, autosomal recessive 55 609952 Fd max lod at D4S2638 Deafness, autosomal recessive 55 (2)
4.235 8 18 98 4q13.2 CENPC1, CENPC C Centromere autoantigen C1 117141 A ?pseudogene on chr.12 5(Cenpc)
4.236 3 30 12 4q21.21 RASGEF1B, GPIG4 P RASGEF domain family, member 1B 614532 REc
4.237 3 13 06 4q13.1-q13.2 EPHA5, TYRO4, HEK7 P Ephrin receptor EphA5 600004 A
4.238 7 9 06 4q13.3 GRSF1 P G-rich RNA sequence-binding factor 1 604851 A
4.239 3 29 90 4q13.3 HTN1 P Histatin-1 142701 REa, A 3 genes in a 15kb segment
4.240 6 16 97 4q13.3 HTN3, HTN2, HIS2 P Histatin-3 142702 REa, A
4.241 12 13 00 4q13.3 UGT2A1 P Uridine diphosphate glycosyltransferase 2 family, member A1 604716 A
4.242 6 2 15 4q13.2 UGT2A3 P Uridine diphosphate glucuronosyltransferase 2 family, member A3 616382 REc 5(Ugt2a3)
4.243 6 23 98 4q13.3 UGT2B4, UGT2B11 C UDP-glucuronyltransferase, family 2, beta-4 600067 Psh, REn, A cluster in order B7--B4--B15 in 195kb 5(Ugt2b4)
4.244 6 23 98 4q13.2 UGT2B7, UGT2B9 P UDP-glucuronyltransferase, family 2, beta-7 600068 Psh, REn, A
4.245 6 23 98 4q13.2 UGT2B15, UGT2B8 C UDP-glucuronyltransferase, family 2, beta-15 600069 Psh, REn, A
4.246 5 25 13 4q13.2 UGT2B17, BMND12 P UDP-glucuronyltransferase, family 2, beta-17 601903 A {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
4.247 11 19 11 4q13-q21 AIS4, VAMAS5 P Autoimmune disease, susceptibility to, 4 609400 Fd between D4S392 and D4S3042 {Autoimmune disease, susceptibility to, 4} (2)
4.248 6 8 89 4q13.3 AREG P Amphiregulin 104640 REa, A 5(Areg)
4.249 10 1 95 4q13.3 BTC L Betacellulin 600345 H tightly linked to Areg in mouse 5(Btc)
4.250 6 2 15 4q13.3 CSN3, CNS10, CSNK C Casein, kappa 601695 REc, A
4.251 10 5 06 4q13.3 MUC7 P Mucin 7, salivary 158375 A, Psh {Asthma, protection against}, 600807 (3)
4.252 9 22 11 4q21.1 SCARB2, CD36L2, LIMPII, AMRF, EPM4 C Scavenger receptor class B, member 2 602257 Psh, Fd Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)
4.253 6 30 15 4q13.1 ADGRL3, LPHN3, CIRL3, CL3, LEC3, KIAA0768 P Adhesion G protein-coupled receptor L3 616417 REc
4.254 3 3 03 4q31.21 GAB1 P Grb2-associated binding protein 1 604439 A 8(Gab1)
4.255 11 20 95 4q13.3 STE, EST P Sulfotransferase, estrogen-preferring 600043 Psh, A 5(Ste)
4.256 12 15 16 4q13.1 TECRL, TERL, SRD5A2L2, GPSN2L, CPVT3 P Trans-2,3-enoyl-CoA reductase-like protein 617242 REc Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3)
4.257 5 5 98 4q21.21 PRKG2, PRKGR2 P Protein kinase, cGMP-dependent, type II 601591 Psh
4.258 5 2 07 4q13.2 SYT14L, SYTDEP, CHR415SYT P Synaptotagmin 14-like protein 610892 REc
4.259 11 11 14 4q13.2 STAP1, BRDG1 P Signal transducing adaptor family member 1 604298 REc
4.260 1 9 08 4q13.2 TMPRSS11A, ECRG1 P Transmembrane protease, serine 11A 611704 REc
4.261 8 18 14 4q13.2 UGT2B10 P Uridine diphosphate glycosyltransferase 2 family, member B10 600070 REc
4.262 4 4 05 4q13.2 UGT2B28 P Uridine diphosphate glycosyltransferase 2 family, member B28 606497 REc
4.263 6 19 12 4q13.2 UGT2B11 P Uridine diphosphate glycosyltransferase 2 family, member B11 603064 REc
4.264 1 3 17 4q13.2 YTHDC1, KIAA1966 P TYH domain-containing protein 1 617283 REc
4.265 2 28 03 4q13.3 GPR74, NPFF2, NPGPR P G protein-coupled receptor 74 607449 R
4.266 11 6 14 4q13.2-q21.3 ETL3, FMTLE P Epilepsy, familial temporal lobe, 3 611630 Fd max lod at D4S1517 Epilepsy, familial temporal lobe, 3 (2)
4.267 8 4 17 4q13.3 AMTN, AI3B P Amelotin 610912 REc, H mutation identified in 1 AI3B family ?Amelogenesis imperfecta, type IIIB, 617607 (3) 5(Amtn)
4.268 9 20 14 4q13.3 ANKRD17, GTAR P Ankyrin repeat domain-containing protein 17 615929 REc
4.269 9 27 17 4q13.3 EREG P Epiregulin 602061 REc
4.270 9 8 11 4q13.3 MTHFD2L P Methylenetetrahydrofolate dehydrogenase 2-like, NADP(+)-dependent 614047 REc
4.271 2 15 14 4q13.3 ODAM, APIN P Odontogenic ameloblast-associated protein 614843 REc
4.272 9 22 17 4q13.3 PARM1, CIPAR1 C Prostate androgen-regulated mucin-like protein 1 617688 REc
4.273 11 15 17 4q13.3 PPBPP2, PPBPL2 P Pro-platelet basic protein pseudogene 2 611591 R, REc
4.274 7 14 14 4q13.3 PROL1, PRL1, BPLP P Proline-rich lacrimal protein 1 608936 REc
4.275 2 18 09 4q13.3 RASSF6 P Ras association domain family, member 6 612620 REc
4.276 8 19 13 4q13.3 RUFY3, SINGAR1, RIPX P FUN and FYVE domains-containing protein 3 611194 REc
4.277 2 23 08 4q13.3 SMR3B, SMR1B, PRL3, PBII P Submaxillary gland androgen-regulated protein 3, mouse, homolog of, B 611593 REc
4.278 8 8 13 4q13.3 SULT1B1, ST1B2 P Sulfotransferase family 1B, member 1 608436 REc
4.279 8 19 13 4q13.2 TMPRSS11E, DESC1 P Transmembrane protease, serine 11E 610399 REc 5(Tmprss11e)
4.280 9 12 93 4q13.3 DCK C Deoxycytidine kinase 125450 Psh, A
4.281 1 29 01 4q13.3 ADAMTS3 C A Disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 3 605011 R, REa
4.282 7 16 09 4q21.3-q22.1 AFF1, MLLT2, AF4 C AF4/FMR2 family, member 1 159557 Ch, H fuses with ALL1 5(Af4)
4.283 3 23 15 4q13.3 AMBN, AI1F C Ameloblastin 601259 mutation identified in 1 AI1F family Amelogenesis imperfecta, type IF, 616270 (3) 5(Ambn)
4.284 1 18 13 4q21.21 ANTXR2, CMG2, HFS P Anthrax toxin receptor 2 608041 Fd, REc Hyaline fibromatosis syndrome, 228600 (3)
4.285 6 6 91 4q21.21 ANXA3, ANX3 P Annexin A3 (lipocortin III) 106490 Psh, REa, A
4.286 11 30 06 4q21.2-q21.3 ARHGAP24, RCGAP72, FILGAP P RHO GTPase-activating protein 24 610586 REc
4.287 12 15 10 4q21 DEL4q21, C4DELq21 P Chromosome 4q21 deletion syndrome 613509 Ch contiguous gene deletion if at least 30 genes Chromosome 4q21 deletion syndrome (4)
4.288 6 15 99 4q21.23 CDS1 P CDP-diacylglycerol synthase 1 603548 R, A
4.289 8 29 02 4q21.1 CXCL9, MIG, SCYB9 P Chemokine, C-X-C motif, ligand 9 601704 A, REn close to INP10
4.290 8 29 02 4q21.1 CXCL10, INP10 C Chemokine, C-X-C motif, ligand 10 (interferon-inducible cytokine IP-10) 147310 A, REa, F ?involved in monocytic leukemia with t(4;11)(q21;q23)
4.291 8 30 02 4q21.1 CXCL13, SCYB13, BCA1, BLC P Chemokine, C-X-C motif, ligand 13 605149 REc
4.292 1 23 09 4q22.1 DMP1, ARHR, ARHP C Dentin matrix acidic phosphoprotein 600980 Fd, REn, Psh, A Hypophosphatemic rickets, AR, 241520 (3)
4.293 8 4 09 4q13.3 ENAM, AIH2, AI1C C Enamelin 606585 REc Amelogenesis imperfecta, type IB, 104500 (3); Amelogenesis imperfecta, type IC, 204650 (3)
4.294 8 3 14 4q21.21 FGF5, TCMGLY C Fibroblast growth factor-5 165190 REa, A Trichomegaly, 190330 (3) 5(Fgf5)
4.295 9 13 17 4q21.21 FRAS1, FRASRS1 C FRAS1 gene 607830 Fd, REc Fraser syndrome 1, 219000 (3) 5(bl, Fras1)
4.296 7 16 09 4q22.1 HSD17B11, RETSDR2, PAN1B P 17-beta-hydroxysteroid dehydrogenase XI 612831 R, REc
4.297 3 30 00 4q13.3 IGJ P Immunoglobulin J polypeptide, linker protein for 147790 REa, A 5(Igj)
4.298 11 11 14 4q21.22 PLAC8 P Placenta-specific gene 8 607515 H, REc 5(Plac8)
4.299 11 2 99 4q13.3 SLC4A4, NBC1, KNBC P Solute carrier family 4, sodium bicarbonate cotransporter, member 4 603345 Psh Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
4.300 1 18 11 4q22.1 SNCA, NACP, PARK1, PARK4 C Synuclein, alpha (non A4 component of amyloid precursor) 163890 Psh, A, Fd Parkinson disease 4, 605543 (3); Dementia, Lewy body, 127750 (3); Parkinson disease 1, 168601 (3)
4.301 2 18 08 4q13.3 UTP3, CRL1, CRLZ1 P UTP3, S. crevisiae, homolog of 611614 REc 5(Utp3)
4.302 6 12 17 4q21.23 WDFY3, ALFY, BCHS, MCPH18 P WD repeat- and FYVE domain-containing protein 3 617485 REc mutation identified in 1 MCPH18 family ?Microcephaly 18, primary, autosomal dominant, 617520 (3)
4.303 8 7 13 4q21.22-q21.23 COQ2, COQ10D1, MSA1 P CoQ2, S. cerevisiae, homolog of (parahydroxybenzoate-polyprenyltransferase, mitochondrial) 609825 REc Coenzyme Q10 deficiency, primary, 1, 607426 (3); {Multiple system atrophy, susceptibility to}, 146500 (3)
4.304 9 22 09 4q22.3 HPGDS, PGDS P Prostaglandin D2 synthase, hematopoietic 602598 A 3(Pgds)
4.305 8 29 08 4q22.1 NAP1L5, DRLM P Nucleosome assembly protein 1-like 5 612203 REc
4.306 6 12 17 4q21-q23 PFM3 P Parietal foramina 3 609566 Fd maximum lod between D4S2986 and D4S421 Parietal foramina 3 (2)
4.307 11 3 09 4q22.1 PKD2 C Polycystin-2 173910 Fd Polycystic kidney disease 2, 613095 (3) 5(Pkd2)
4.308 8 9 99 4q22.3 UNC5C, UNC5H3 P UNC5, C. elegans, homolog of, C 603610 R 3(Unc5c)
4.309 9 9 90 4q23 ADH5, FDH C Alcohol dehydrogenase (class III), chi polypeptide 103710 S, REa
4.310 3 14 13 4q23 EIF4E, EIF4EL1, AUTS19 C Eukaryotic translation initiation factor 4E 133440 Psh pseudogene on 20 {Autism, susceptibility to, 19}, 615091 (3)
4.311 9 12 93 4q21-q25 FECB L Fecundity gene, Boorla, of sheep, homolog of 134720 H sheep chr.6
4.312 2 18 96 4q22.1 IBSP C Integrin-binding sialoprotein (bone sialoprotein II) 147563 REa, A 5(Ibsp)
4.313 2 4 00 4q23 RAP1GDS1 P RAP1, GTP-GDP dissociation stimulator 1 179502 A, REa, Ch fusion partner with NUP98 in ALL Lymphocytic leukemia, acute T-cell (3)
4.314 1 27 97 4q22.1 SPP1, OPN C Secreted phosphoprotein-1 (osteopontin, bone sialoprotein) 166490 REa, REc 5(Spp1)
4.315 8 25 04 4q21-q31 OFC4 P Orofacial cleft 4 608371 Fd, Ch Orofacial cleft 4 (2)
4.316 7 27 12 4q21.1 ART3 P ADP-ribosyltransferase 3 603086 REa, A, REc
4.317 10 5 17 4q21.1 ODAPH, C4orf26 P Odontogenesis-associated phosphoprotein 614829 REc Amelogenesis imperfecta, type IIA4, 614832 (3)
4.318 7 20 12 4q21.1 CCNG2 P Cyclin G2 603203 REc
4.319 5 25 13 4q21.1 CDKL2, KKIAMRE, P56 P Cyclin-dependent kinase-like 2 603442 REc
4.320 5 24 13 4q13.3 COX18 P Cytochrome c oxidase assembly protein COX18 610428 REc
4.321 8 3 97 4q13.3 CSN1 C Casein, alpha 115450 REa, A
4.322 8 3 97 4q13.3 CSN2 C Casein, beta 115460 Psh, A 5(Csn2)
4.323 5 7 01 4q22.1 MEPE P Matrix, extracellular, phosphoglycoprotein 605912 REa, R
4.324 2 26 08 4q21.1 MRPL1 P Mitochondrial ribosomal protein L1 611821 REc
4.325 12 26 13 4q21.1 NAAA, ASAHL P N-acylethanolamine acid amidase 607469 A
4.326 8 30 09 4q21.1 NUP54 P Nucleoporin, 54kD 607607 R, REc
4.327 10 15 13 4q21.21 PCAT4, GDEP P Prostate cancer-associated transcript 4 609717 R
4.328 8 30 09 4q21.1 PPEF2 P Protein phosphatase, EF hand calcium-binding domain-2 602256 Psh, REc
4.329 11 11 14 4q21.1 RCHY1, ZNF363, PIRH2, ARNIP P Ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase 607680 REc, A
4.330 1 27 04 4q21.22 SCD4, ACOD4 P Stearoyl-CoA desaturase 4 608370 A, REc
4.331 7 20 09 4q21.1 SEPT11 P Septin 11 612887 REc
4.332 4 18 07 4q21.1 SHROOM3, SHRM, KIAA1481 P Shroom family member 3 604570 REa, REc
4.333 1 20 09 4q21.1 THAP6 P THAP domain-containing protein 6 612535 REc
4.334 7 20 12 4q21.1 USO1, TAP, p115 P USO1 vesicle docking protein, S. cerevisiae, homolog of 603344 REc
4.335 12 1 98 4q21.22 HNRPD, AUF1, AUF1A P Heterogeneous nuclear ribonucleoprotein D 601324 REa, A 3(Hnrpd)
4.336 8 30 02 4q21.1 CXCL11, SCYB11, IP9, SCYB9B C Chemokine, C-X-C motif, ligand 11 604852 Psh, A, REc 5(Scyb11)
4.337 2 10 14 4q21.23 FAM175A, CCDC98, ABRAXAS, ABRA1 P Family with sequence similarity 175, member A 611143 REc
4.338 9 28 12 4q13.2 GNRHR, LHRHR, HH7 C Gonadotropin-releasing hormone receptor 138850 REa, A, Psh placed at 4q12 or 4q13 by some Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3) 5(Gnrhr)
4.339 4 19 01 4q32.3 KLHL2, MAYVEN P Kelch-like 2 605774 REa 8(Klhl2)
4.340 9 1 16 4q21.23 NKX6-1, NKX6A P NK6, Drosophila, homolog of, 1 602563 A
4.341 8 31 17 4q21.21 BMP2K, BIKE P BMP2-inducible kinase 617648 REc
4.342 4 19 12 4q21.21 PAQR3, RKTG P Progestin and ADIPOQ receptor family, member 3 614577 REc
4.343 11 17 15 4q21.21 PRDM8, EPM10 P PR domain-containing protein 8 616639 REc mutation identified in 1 EPM10 family ?Epilepsy, progressive myoclonic, 10, 616640 (3)
4.344 9 20 14 4q21.22 HNRNPDL, HNRPDL, JKTBP, LGMD1G P Heterogeneous nuclear ribonucleoprotein D-like protein 607137 A, REc, Fd Muscular dystrophy, limb-girdle, type 1G, 609115 (3)
4.345 9 22 14 4q21.22 COPS4, CSN4 P COP9 signalosome, subunit 4 616008 REc
4.346 4 20 10 4q21.22 LIN54 P Lin54, C. elegans, homolog of 613367 REc
4.347 3 30 12 4q21.22 SEC31A, SEC31L1, KIAA0905 P Sec31, yeast, homolog of, A 610257 R, REc
4.348 1 20 09 4q21.22 THAP9 P THAP domain-containing protein 9 612537 REc
4.349 1 9 17 4q21.22 TMEM150C, TTN3 P Transmembrane protein 150C 617292 REc
4.350 9 21 11 4q21.23 AGPAT9, GPAT3, MAG1 P 1-acylglycerol-3-phosphate O-acyltransferase 9 610958 REc
4.351 3 30 12 4q21.23 HELQ, HEL308 P Helicase, POLQ-like 606769 H, REc 5(Hel308)
4.352 4 24 08 4q21.23 MRPS18C, MRPS18-1 P Mitochondrial ribosomal protein S18C 611983 REc 6 pseudogenes
4.353 4 27 00 4q21.23 HPSE, HSE1, HPA P Heparanase 604724 A, R
4.354 1 22 97 4q21.3 PTPN13 C Protein tyrosine phosphatase, nonreceptor-type, 13 (APO-1/CD95 (Fas)-associated phosphatase) 600267 A, Psh 633bp upstream of JNK3 5(Ptpn13)
4.355 6 21 05 4q22.1 DSPP, DPP, DGI1, DFNA39, DTDP2 C Dentin sialophosphoprotein 125485 REa, A, F, Fd Dentinogenesis imperfecta, Shields type II, 125490 (3); Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3); Dentinogenesis imperfecta, Shields type III, 125500 (3); Dentin dysplasia, type II, 125420 (3)
4.356 9 23 13 4q21.3 MAPK10, PRKM10, JNK3 C Mitogen-activated protein kinase 10 602897 REa, A, REn
4.357 4 20 10 4q21.3 SLC10A6, SOAT P Solute carrier family 10 (sodium/bile acid cotransporter family), member 6 613366 REc
4.358 3 29 12 4q22.1 ABCG2, BCRP, ABCP, UAQTL1, GOUT1 P ATP-binding cassette, subfamily G, member 2 603756 R [Junior blood group system], 614490 (3); [Uric acid concentration, serum, QTL1], 138900 (3) 6(Abcp)
4.359 8 26 02 4q23 ADH1A, ADH1 C Alcohol dehydrogenase IA (class I), alpha polypeptide 103700 REa
4.360 1 26 12 4q23 ADH1B, ADH2 C Alcohol dehydrogenase IB (class I), beta polypeptide 103720 REa {Alcohol dependence, protection against}, 103780 (3); {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} (3)
4.361 11 14 10 4q23 ADH1C, ADH3 C Alcohol dehydrogenase IC (class I), gamma polypeptide 103730 REa {Alcohol dependence, protection against}, 103780 (3); {Parkinson disease, susceptibility to}, 168600 (3) 3(Adh3)
4.362 11 6 89 4q23 ADH4 P Alcohol dehydrogenase (class II), pi polypeptide 103740 REa, A
4.363 8 28 97 4q22.2 ATOH1, ATH1 P Atonal, Drosophila, homolog of, 1 601461 REa, A
4.364 8 9 01 4q22.3 ENH P Enigma-like LIM domain protein 605904 Psh
4.365 1 30 15 4q22.1-q22.2 GRID2, SCAR18 C Glutamate receptor, ionotropic, delta-2 602368 R, REc Spinocerebellar ataxia, autosomal recessive 18, 616204 (3) 6(Grid2)
4.366 10 27 08 4q22 MUSQTL1 P Musical aptitude quantitative trait locus 1 612343 Fd near D4S423 and D4S2460 [Musical aptitude QTL 1] (2)
4.367 1 2 91 4q22.3 PDHA2 P Pyruvate dehydrogenase, E1-alpha polypeptide, testis specific form 179061 REa 19(Pdhal)
4.368 12 29 15 4q24 SLC39A8, BIGM103, CDG2N P Solute carrier family 39 (zinc transporter), member 8 608732 REc Congenital disorder of glycosylation, type IIn, 616721 (3)
4.369 3 9 17 4q22.3 SMARCAD1, KIAA1122, ETL1, HEL1, ADERM, BASNS P SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily A, DEAD/H box-containing, 1 612761 A Adermatoglyphia, 136000 (3); Basan syndrome, 129200 (3)
4.370 7 26 15 4q24 BANK1, FLJ20706, BANK P B-cell scaffold protein with ankyrin repeats 1 610292 REc
4.371 12 18 07 4q24 CXXC4, IDAX P CXXC finger protein 4 611645 R, REc
4.372 12 29 06 4q23 MTP P Microsomal triglyceride transfer protein, 88kD 157147 Psh, A Abetalipoproteinemia, 200100 (3); {Metabolic syndrome, protection against}, 605552 (3) 3(Mtp)
4.373 10 8 07 4q24 CISD2, WFS2, ZCD2, ERIS C CDGSH iron sulfur domain protein 2 611507 Fd, REc Wolfram syndrome 2, 604928 (3)
4.374 8 9 05 4q24 MANBA, MANB1 C Mannosidase, beta A, lysosomal 609489 H, REa linked in mouse to Adl-3 Mannosidosis, beta, 248510 (3) 3(Bmn)
4.375 3 17 06 4q25 HADHSC, SCHAD, HHF4 C L-3-hydroxyacyl-CoA dehydrogenase, short chain 601609 A 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3); Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3)
4.376 3 23 06 4q22-q27 MYP11 P Myopia 11 609994 Fd max lod at D4S1564 Myopia 11 (2)
4.377 8 20 15 4q22.1 ATOD8 P Dermatitis, atopic, 8 613518 Fd {Dermatitis, atopic, susceptibility to, 8} (2)
4.378 3 16 10 4q22.1 FAM13A, FAM13A1, KIAA0914 C Family with sequence similarity 13, member A 613299 R, REc overlaps with FAM13AOS
4.379 3 16 10 4q22.1 FAM13AOS, FAM13A1OS P FAM13A opposite strand 613300 REc overlaps with FAM13A
4.380 11 11 14 2q24.3 FIGN P Fidgetin 605295 REc, H 2(Fign)
4.381 5 26 13 4q22.1 GPRIN3, GRIN3 P G protein-regulated inducer of neurite outgrowth 3 611241 REc
4.382 11 11 14 4q22.1 HERC3 P HECT domain and RCC1-like domain 3 605200 A, REc
4.383 8 18 08 4q22.1 HSD17B13, SCDR9 P 17-beta-hydroxysteroid dehydrogenase XIII 612127 REc
4.384 4 23 08 4q22.1 KLHL8, KIAA1378 P Kelch-like 8 611967 REc
4.385 9 26 17 4q22.1 MMRN1, ECM P Multimerin 1 601456 REc
4.386 1 12 16 4q22.1 PIGY, HPMRS6 P Phosphatidylinositol glycan, class Y 610662 REc Hyperphosphatasia with mental retardation syndrome 6, 616809 (3)
4.387 7 20 15 4q22.1 PPM1K, PP2CM, PTMP, MSUDMV P Protein phosphatase, PP2C domain-containing, 1K 611065 R, REc mutation identified in 1 MSUDMV family ?Maple syrup urine disease, mild variant, 615135 (3)
4.388 9 10 09 4q22.1 TIGD2 P TIGGER transposable element-derived gene 2 612973 REc
4.389 3 10 05 4q22.1 HERC5, CEB1 C HECT domain and RCC1-like domain 5 608242 A, REa
4.390 5 25 17 4q23 DNAJB14 P DNAJ/HSP40 homolog, subfamily B, member 14 617478 REc
4.391 7 18 12 4q23 LAMTOR3, MP1, MAPBP P Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 3 603296 REc
4.392 2 21 18 4q23 C4orf54, LOC285556, FOPV P Chromosome 4 open reading frame 54 617881 REc
4.393 4 6 15 4q23 METAP1, KIAA0094 P Methionyl aminopeptidase 1 610151 R, REc
4.394 9 30 14 4q23 TRMT10A, RG9MTD2, MSSGM1 P tRNA methyltransferase 10, S. cerevisiae, homolog of, A 616013 REc Microcephaly, short stature, and impaired glucose metabolism 1, 616033 (3)
4.395 12 21 09 4q23 TSPAN5, NET4 P Tetraspanin 5 613136 REn
4.396 3 1 00 4q23 TYS, HRZ P Sclerotylosis 181600 F, Fd Huriez syndrome (2)
4.397 8 26 02 4q23 ADH6 P Alcohol dehydrogenase 6 (aldehyde reductase) 103735 REn
4.398 12 19 96 4q23 ADH7 C Alcohol dehydrogenase-7 600086 A
4.399 3 8 16 4q22.3 BMPR1B, ALK6, AMDD, BDA2, BDA1D P Bone morphogenetic protein receptor, type IB 603248 A, R Brachydactyly, type A2, 112600 (3); Acromesomelic dysplasia, Demirhan type, 609441 (3); Brachydactyly, type A1, D, 616849 (3)
4.400 9 30 15 4q24 NFKB1, CVID12 C Nuclear factor of kappa light chain gene enhancer in B-cells 1 (p105) 164011 REa, A Immunodeficiency, common variable, 12, 616576 (3)
4.401 7 9 06 4q25 LEF1 P Lymphoid enhancer-binding factor-1 153245 REa, A Sebaceous tumors, somatic (3) 3(Lef1)
4.402 2 16 11 4q24 AIMP1, SCYE1, EMAP2, EMAPII, HLD3 P ARS-interacting multifunctional protein 1 603605 REc, R Leukodystrophy, hypomyelinating, 3, 260600 (3)
4.403 8 18 14 4q24 GSTCD P Glutathione S-transferase C-terminal domain-containing protein 615912 REc
4.404 4 7 94 4q23 H2AZ P H2AZ histone 142763 REa, A
4.405 3 24 14 4q24 INTS12, INT12 P Integrator complex subunit 12 611355 R, REc
4.406 4 4 02 4q24 MGR1, MA C Migraine with or without aura, susceptibility to, 1 157300 Fd {Migraine with or without aura, susceptibility to, 1} (2)
4.407 2 12 08 4q24 NHEDC2, NHA2 P NA+/H+ exchanger domain-containing protein 2 611789 REc, H 3(Nhedc1)
4.408 10 13 09 4q24 NHEDC1 P Na+/H+ exchanger domain-containing protein 1 611527 REc
4.409 5 24 13 4q24 NPNT, POEM P Nephronectin 610306 REc
4.410 10 8 13 4q24 OCA5 P Albinism, oculocutaneous, type V 615312 Fd max lod at D4S961 Albinism, oculocutaneous, type V (2)
4.411 6 11 02 4q25 PAPSS1, ATPSK1 C 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (ATP sulfurylase/APS kinase-1) 603262 R, A 3(Atpsk1)
4.412 4 21 16 4q24 TBCK, IHPRF3 P TBC1 domain-containing kinase 616899 REc Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)
4.413 10 26 11 4q24 TET2, KIAA1546, MDS P TET oncogene family, member 2 612839 REc Myelodysplastic syndrome, somatic, 614286 (3)
4.414 8 1 16 4q24 UBE2D3, UBCH5C P Ubiquitin-conjugating enzyme E2D 3 602963 REc
4.415 11 3 14 4q24 CENPE, MCPH13 P Centromere autoantigen E, 312kD 117143 A mutation identified in 1 MCPH13 family ?Microcephaly 13, primary, autosomal recessive, 616051 (3)
4.416 8 30 09 4q24 DDIT4L, REDD2 P DNA damage-inducible transcript 4-like 607730 R, REc
4.417 1 22 18 4q24 PPP3CA, PPP2B, CALNA, CNA1, IECEE1 C Protein phosphatase-3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha) 114105 REa, REc Epileptic encephalopathy, infantile or early childhood, 1, 617711 (3)
4.418 4 14 10 4q24-q28 HWE2 P Epilepsy, hot water, 2 613340 Fd between D4S1572 and D4S2277 Epilepsy, hot water, 2 (2)
4.419 7 20 12 4q25 AGXT2L1 P Alanine-glyoxylate aminotransferase 2-like 1 614682 REc
4.420 1 28 08 4q25 ALPK1, LAK, KIAA1527 C Alpha-kinase 1 607347 REc
4.421 10 08 07 4q25 ATFB5 P Atrial fibrillation, familial, 5 611494 Fd association with rs2200733 and rs10033464 {Atrial fibrillation, familial, 5} (2)
4.422 3 15 07 4q25 C4orf16, GBAR, 2C18 P Gamma-1 adaptin brefeldin-A resistance protein 610851 REc
4.423 10 15 13 4q25 CFI, FI, AHUS3, ARMD13 C Complement factor I 217030 REa, Fd, A, RE 40kb distal to EGF Complement factor I deficiency, 610984 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3); {Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)
4.424 2 12 15 4q25 COL25A1, CLAC, CFEOM5 P Collagen, type XXV, alpha-1 polypeptide 610004 REc Fibrosis of extraocular muscles, congenital, 5, 616219 (3)
4.425 1 28 13 4q25 CYP2U1, SPG56 P Cytochrome P450, family 2, subfamily U, polypeptide 1 610670 R, REc Spastic paraplegia 56, autosomal recessive, 615030 (3)
4.426 1 9 08 4q25 EGF, URG, HOMG4 C Epidermal growth factor (urogastrone) 131530 REa, H, F, RE linked to ADH3; cen-ADH3-EGF-IL2-qter Hypomagnesemia 4, renal, 611718 (3) 3(Egf)
4.427 11 5 97 4q25 ENPEP P Glutamyl aminopeptidase (aminopeptidase A) 138297 Psh, A, R, H
4.428 8 20 08 4q25 ELOVL6, LCE, FACE P Elongation of very long chain fatty acids-like 6 611546 REc
4.429 4 27 09 4q25 NOLA1, GAR1 P Nucleolar protein family A, member 1 606468 R, REc
4.430 2 12 13 4q25 LARP7, PIP7S, ALAZS P La ribonucleoprotein domain family, member 7 612026 R, REc Alazami syndrome, 615071 (3)
4.431 7 23 09 4q25 LGV1 P Longevity 1, QTL 152430 Fd maximum lod at D4S1564 [Longevity 1] (2)
4.432 1 31 13 4q25 LRIT3, FIGLER4, CSNB1F P Leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein 3 615004 REc Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
4.433 11 19 13 4q25 MIR297 P Micro RNA 297 615520 REc
4.434 4 27 12 4q25 MIR302A P Micro RNA 302A 614596 REc
4.435 4 27 12 4q25 MIR302B P Micro RNA 302B 614597 REc
4.436 4 27 12 4q25 MIR302C P Micro RNA 302C 614598 REc
4.437 4 27 12 4q25 MIR302D P Micro RNA 302D 614599 REc
4.438 4 27 12 4q25 MIR367 P Micro RNA 367 614600 REc
4.439 6 21 12 4q25 NEUROG2, NGN2, ATOH4 P Neurogenin 2 606624 REc
4.440 1 3 17 4q25 PANCR P PITX2 adjacent noncoding RNA 617286 REc
4.441 11 23 16 4q24 PPA2, SCFI, SCFAI P Pyrophosphatase, inorganic, 2 609988 REc mutation identified in 1 SCFAI family Sudden cardiac failure, infantile, 617222 (3); ?Sudden cardiac failure, alcohol-induced, 617223 (3)
4.442 3 20 16 4q25 RPL34 P Ribosomal protein L34 616862 REc
4.443 3 13 15 4q25 SEC24B P Sec24-related gene family, member B 607184 R, REc
4.444 12 07 07 4q25 SGMS2, SMS2 P Sphingomyelin synthase 2 611574 R
4.445 9 28 12 4q24 TACR3, NK3R, HH11 P Tachykinin receptor 3 162332 REc Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3)
4.446 6 4 97 4q25 CASP6, MCH2 C Caspase 6, apoptosis-related cysteine protease 601532 A, R
4.447 10 1 17 4q25 TIFA, T2BP P TRAF-interacting protein with forkhead-associated domain 609028 REc
4.448 12 18 07 4q25 PLA2G12A, GXII, ROSSY P Phospholipase A2, Group XIIA 611652 REc
4.449 1 29 13 4q26 NDST4 P N-deacetylase/N-sulfotransferase 4 615039 A, REn
4.450 1 27 17 4q25 PITX2, IDG2, RIEG1, RGS, IGDS2, ASGD4 C Paired-like homeodomain transcription factor-2 601542 Ch, Fd, RE Axenfeld-Rieger syndrome, type 1, 180500 (3); Ring dermoid of cornea, 180550 (3); Anterior segment dysgenesis 4, 137600 (3)
4.451 2 21 06 4q26 PRSS12, BSSP3, MRT1 P Protease, serine, 12 606709 A Mental retardation, autosomal recessive 1, 249500 (3)
4.452 9 12 08 4q25-q26 ANK2, LQT4 C Ankyrin-2, nonerythrocytic 106410 REa, A, Fd Long QT syndrome 4, 600919 (3); Cardiac arrhythmia, ankyrin-B-related, 600919 (3)
4.453 8 27 01 4q23 DAPP1, BAM32 P Dual adaptor of phosphotyrosine and 3-phosphoinositides 1 605768 A
4.454 7 5 92 4q28.1 FGF2, FGFB C Fibroblast growth factor-2 (basic) 134920 REa, A many alternate names 3(Fgf2)
4.455 4 2 16 4q13.2 UBA6, UBE1L2 P Ubiquitin activating enzyme 6 611361 R, REc
4.456 2 28 03 4q21.1 GENEX3414 P Genethonin 1 607406 R
4.457 5 19 06 4q26 ARSJ P Arylsulfatase J 610010 REc
4.458 8 30 09 4q26 CAMK2D P Calcium/calmodulin-dependent protein kinase II-delta 607708 R, REc
4.459 8 7 15 4q26 METTL14, KIAA1627 C Methyltransferase-like 14 616504 R, REc
4.460 11 24 98 4q26 PDE5A C Phosphodiesterase 5A 603310 A, REc
4.461 5 22 03 4q28.2 PGRMC2 P Progesterone receptor membrane component 2 607735 REc
4.462 4 7 15 4q26 SEC24D, KIAA0755, CLCRP2 P Sec24-related gene family, member D 607186 R, REc Cole-Carpenter syndrome 2, 616294 (3)
4.463 6 12 17 4q26 TRAM1L1 P Translocation-associated membrane protein 1-like 1 617505 REc
4.464 1 22 13 4q26 UGT8, CGT P UDP glycosyltransferase 8 (cerebroside synthase) 601291 Psh, A
4.465 4 20 17 4q26 USP53, KIAA1350 P Ubiquitin-specific peptidase 53 617431 REc
4.466 3 29 18 4q27 IL2 C Interleukin-2 147680 REa, A, F 3(Il2)
4.467 5 22 14 4q27 IL21, CVID11 P Interleukin 21 605384 R mutation identified in 1 CVID11 patient ?Immunodeficiency, common variable, 11, 615767 (3) 3(Il21)
4.468 3 28 11 4q26 MYOZ2, CMH16 P Myozenin 2 605602 REc Cardiomyopathy, hypertrophic, 16, 613838 (3)
4.469 5 4 12 4q27 ANXA5, ENX2, RPRGL3 C Annexin A5 (endonexin II) 131230 REa, A, D {Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3) 3(Anx5)
4.470 7 27 11 4q27 ADAD1, TENR P Adenosine deaminase domain-containing protein 1, testis-specific 614130 REc
4.471 10 16 14 4q27 BBS7 C BBS7 gene 607590 REc, REn Bardet-Biedl syndrome 7, 615984 (3)
4.472 1 7 06 4q27 BBS12, FLJ35630, C4orf24 C BBS12 gene 610683 Fd, REc 1Mb centromeric to BBS Bardet-Biedl syndrome 12, 615989 (3)
4.473 8 24 92 4q27 CCNA, CCN1 C Cyclin A 123835 A 3(Cyca)
4.474 2 23 08 4q27 CELIAC6, AIS5 P Celiac disease, susceptibility to, 6 611598 Fd {Celiac disease, susceptibility to, 6} (2); {Autoimmune disease, susceptibility to, 5} (2)
4.475 8 30 09 4q27 EXOSC9, PMSCL1 P Exosome component 9 606180 R, REc
4.476 2 18 09 4q27 IDDM23 P Diabetes mellitus, insulin-dependent, 23 612622 Fd associated with rs6534347 {Diabetes mellitus, insulin-dependent, 23} (2)
4.477 1 11 18 4q27 KIAA1109, ALKKUCS C KIAA1109 gene 611565 R, REc Alkuraya-Kucinskas syndrome, 617822 (3)
4.478 6 19 98 4q27 MAD2L1 C Mitotic arrest deficient, yeast, homolog-like 1 601467 REa, R, A previously mapped to 5q23-q31
4.479 8 26 15 4q27 NDNF, C4orf31, NORD P Neuron-derived neurotrophic factor 616506 REc
4.480 8 25 11 4q27 PRDM5, BCS2 P PR domain-containing protein 5 614161 REc Brittle cornea syndrome 2, 614170 (3)
4.481 6 17 15 4q27 TRPC3, TRP3, SCA41 P Transient receptor potential cation channel, subfamily C, member 3 602345 REc mutation identified in one SCA41 patient ?Spinocerebellar ataxia 41, 616410 (3)
4.482 1 12 15 4q28.1 PLK4, STK18, SAK, MCCRP2 P Polo-like kinase 4 (serine/threonine protein kinase-18) 605031 A Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3) 13(Sak)
4.483 10 4 16 4q27-q28.2 MRT29 P Mental retardation, autosomal recessive 29 614333 Fd between rs10518325 and rs10518608 Mental retardation, autosomal recessive 29 (2)
4.484 9 19 14 4q31.3 FGA C Fibrinogen, alpha polypeptide 134820 RE, REa, H, D, LD, A Dysfibrinogenemia, congenital, 616004 (3); Hypodysfibrinogenemia, congenital, 616004 (3); Amyloidosis, familial visceral, 105200 (3); Afibrinogenemia, congenital, 202400 (3)
4.485 9 19 14 4q31.3 FGB C Fibrinogen, beta polypeptide 134830 RE, REa, D, LD, A 4q31 by A; proximal to GYPB/GYPA Dysfibrinogenemia, congenital, 616004 (3); Afibrinogenemia, congenital, 202400 (3); Hypofibrinogenemia, congenital, 202400 (3)
4.486 9 30 14 4q32.1 FGG C Fibrinogen, gamma polypeptide 134850 F, REa, H, RE, D, LD, A linked to MN Dysfibrinogenemia, congenital, 616004 (3); Hypofibrinogenemia, congenital, 202400 (3); Afibrinogenemia, congenital, 202400 (3); Hypodysfibrinogenemia, 616004 (3) 3(Fgg)
4.487 3 30 18 4q28.1 INTU, KIAA1284, PDZK6, SRTD20, OFD17 C Inturned, Drosophila, homolog of 610621 R, REc mutation identified in 1 SRTD20 patient and 1 OFD17 patient ?Short-rib throacic dysplasia 20 with polydactyly, 617925 (3); ?Orofaciodigital syndrome XVII, 617926 (3)
4.488 8 2 13 4q31.21 SMAD1, MADH1, MADR1, BSP1 P Mothers against decapentaplegic, Drosophila, homolog of, 1 601595 Psh
4.489 12 21 87 4q26 FABP2 P Fatty acid-binding protein, intestinal 134640 REa, A 3(Fabpi)
4.490 3 30 18 4q31.21 GYPB, SS C Glycophorin B 617923 F, Fc, AAS, EM [Blood group, Ss], 111740 (3); {Malaria, resistance to}, 611162 (3)
4.491 4 30 91 4q31.21 GYPE, GPE P Glycophorin E 138590 REn, A tandem: 5'-GYPA-GYPB-GYPE-3'; ?4q31.1
4.492 3 2 98 4q31.1 MGST2, GST2 P Microsomal glutathione S-transferase 2 601733 A
4.493 10 23 87 4q28-q31 SF C Stoltzfus blood group 111800 F ~25cM from MNSs [Blood group, Stoltzfus system] (2)
4.494 2 17 09 4q31.21 HHIP, HIP P Hedgehog-interacting protein 606178 R, H 8(Hip)
4.495 9 24 14 4q28.1 FAT4, VMLDS2, HKLLS2 P FAT tumor suppressor, Drosophila, homolog of, 4 612411 REc Van Maldergem syndrome 2, 615546 (3); Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
4.496 3 8 07 4q28.1 SLC25A31, ANT4, AAC4 P Solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 31 610796 REc
4.497 9 30 15 4q28.1 SPATA5, SPAF, EHLMRS P Spermatogenesis-associated protein 5 613940 REc Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3)
4.498 5 25 09 4q28.1 SPRY1 C Sprouty, Drosophila, homolog of 602465 R, REc
4.499 1 8 15 4q28.2 MFSD8, MGC33302, CLN7, CCMD P Major facilitator superfamily domain-containing protein 8 611124 REc, Fd Ceroid lipofuscinosis, neuronal, 7, 610951 (3); Macular dystrophy with central cone involvement, 616170 (3)
4.500 5 26 13 4q28.2 PHF17, JADE1 P PHD finger protein 17 610514 R, REc
4.501 5 26 13 4q28.2 SCLT1, CAP1A P Sodium channel and clathrin linker 1 611399 REc
4.502 3 30 18 4q31.21 GYPA, MN, GPA C Glycophorin A 617922 F, Fc, AAS, EM, A, D, Fc [Blood group, MNSs system], 111300 (3); {Malaria, resistance to}, 611162 (3)
4.503 6 4 99 4q31.1 NDUFC1 P NADH-ubiquinone oxidoreductase 1, subcomplex C1 603844 R
4.504 11 2 04 4q31.1 MAML3, MAM2, KIAA1816 C Mastermind-like 3 608991 R, REc
4.505 12 5 03 4q28.3 PCDH10, KIAA1400 P Protocadherin 10 608286 R, REc
4.506 2 25 15 4q28.3 SLC7A11, XCT P Solute carrier family 7 (cationic amino acid transporter, y+ system), member 11 607933 R, REc
4.507 10 5 10 4q31 AAA2 P Aortic aneurysm, familial abdominal 2 609782 Fd max lod at D4S1644 Aortic aneurysm, familial abdominal 2 (2)
4.508 11 1 99 4q31.21 ABCE1, RNASELI, RNS4I P ATP-binding cassette, subfamily E, member 1 (ribonuclease L inhibitor) 601213 A
4.509 11 30 00 4q31 DFNB26 P Deafness, autosomal recessive 26 605428 Fd Deafness, autosomal recessive 26 (2)
4.510 8 28 02 4q34.1 HMGB2, HMG2 P High-mobility group box 2 (high-mobility group (nonhistone chromosomal) protein 2) 163906 A
4.511 6 13 95 4q31.21 IL15 P Interleukin-15 600554 A
4.512 4 8 10 4q32.1 LRAT, LCA14 C Lecithin retinol acyltransferase 604863 A Retinal dystrophy, early-onset severe, 613341 (3); Leber congenital amaurosis 14, 613341 (3); Retinitis pigmentosa, juvenile, 613341 (3)
4.513 2 20 97 4q32.1 NPY2R P Neuropeptide Y receptor Y2 162642 REa, A 3(Npy2r)
4.514 12 5 03 4q28.3 PCDH18, KIAA1562 P Protocadherin 18 608287 R, REc
4.515 5 5 09 4q31 STQTL12 P Stature quantitative trait locus 12 612224 Fd associated with rs6854783 {Stature QTL 12} (2)
4.516 5 26 05 4q31.1 UCP1 P Uncoupling protein 1 (mitochondrial, proton carrier) 113730 A {Obesity, susceptibility to}, 601665 (3) 8(Ucp)
4.517 2 18 98 4q32.2 NPY5R C Neuropeptide Y receptor Y5 602001 REa, REc, REn 8(Npy5r)
4.518 10 11 17 4q32.1 TDO2, TPH2, TRPO, HYPTRP C Tryptophan oxygenase 191070 REa, A mutation identified in 1 HYPTRP patient [?Hypertryptophanemia], 600627 (3)
4.519 3 22 06 4q31-q34 PAND3 P Panic disorder 3 609985 Fd max lod at D4S413 Panic disorder 3 (2)
4.520 7 21 03 4q31-q34 PSORS9 P Psoriasis susceptibility 9 607857 Fd max lod at D4S1597 {Psoriasis susceptibility 9} (2)
4.521 9 9 08 4q31.1 CCRN4L, CCR4L, CCR4 P Carbon catabolite repression 4-like 608468 REc, H 3(Ccrn4l)
4.522 8 25 16 4q31.1 CLGN P Calmegin 601858 REc
4.523 3 11 09 4q31.1 ELMOD2 P ELMO domain-containing protein 2 610196 REc
4.524 1 29 01 4q34.1 GALNT7 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 605005 REc
4.525 3 10 09 4q31.1 LOC152586 P LOC152586 gene 610310 REc
4.526 12 5 17 4q31.1 NAA15, NARG1, NATH, MRD50 P N-alpha-acetyltransferase 15, NatA auxiliary subunit 608000 REc Mental retardation, autosomal dominant 50, 617787 (3)
4.527 7 7 00 4q31.23 NR3C2, MLR, MCR C Nuclear receptor subfamily 3, group C, member 2 (mineralocorticoid receptor; aldosterone receptor) 600983 REa, M, A Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3); Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
4.528 5 3 13 4q31.1 RAB33B, SMC2 P Ras-associated protein RAB33B 605950 REc Smith-McCort dysplasia 2, 615222 (3)
4.529 6 30 15 4q31.1 SETD7, SET7, KIAA1717 P SET domain-containing protein 7 606594 R, REc
4.530 3 11 03 4q31.21 MMAA P MMAA gene 607481 REc Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)
4.531 1 12 99 4q31.21 SMARCA5, SNF2H P SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 5 603375 A
4.532 9 1 05 4q31.21 ZNF330, NOA36 P Zinc finger protein 330 609550 A, REc
4.533 1 6 09 4q31.23 ARHGAP10, GRAF2, PSGAP P RHO GTPase-activating protein 10 609746 R, REc
4.534 2 28 94 4q31.22 BRN3B P Brn3b POU domain transcription factor 113725 REa, A
4.535 5 19 15 4q31.22-q31.23 EDNRA, MFDA C Endothelin receptor type A 131243 REa {Migraine, resistance to}, 157300 (3); Mandibulofacial dysostosis with alopecia, 616367 (3)
4.536 10 1 09 4q31.21 FREM3 P FRAS1-related extracellular matrix protein 3 608946 REc
4.537 8 30 09 4q31.22 LSM6 P LSM6 protein 607286 R, REc
4.538 1 22 08 4q31.21 OTUD4, KIAA1046, HIN1 P OTD domain-containing protein 4 611744 REc
4.539 6 15 99 4q31.3 RPS3A C Ribosomal protein S3a 180478 REa, A, R
4.540 8 24 09 4q31.3 PLRG1, PRL1 P Pleiotropic regulator 1 605961 R, REc
4.541 2 17 11 4q31.21 ANAPC10, DOC1, APC10 P Anaphase-promoting complex, subunit 10 613745 REc 8(Anapc10)
4.542 4 26 11 4q31.23 TMEM184C, TMEM34 C Transmembrane protein 184C 613937 REc
4.543 12 21 09 4q31.2-q31.3 DCLK2, DCK2, CLIK2, CL2 P Doublecortin-like kinase 2 613166 REc 3(Dclk2)
4.544 12 9 14 4q31.23 PRMT9, PRMT10 P Protein arginine methyltransferase 9 616125 REc
4.545 10 13 09 4q31.3 DCHS2, CDHJ, PCDHJ P Dachsous, Drosophila, homolog of, 2 612486 REc, H 3(Dchs2)
4.546 9 9 08 4q31.3 FBXW7, AGO, CDC4 P F-box and WD40 domain protein 7 606278 R
4.547 11 23 16 4q31.3 GATB, PET112 P Glutamyl-tRNA amidotransferase, subunit B 603645 TM
4.548 5 10 12 4q32.1 GLRB, HKPX2 C Glycine receptor, beta subunit 138492 A Hyperekplexia 2, autosomal recessive, 614619 (3) 3(Glrb)
4.549 1 4 16 4q31.3 KIAA0922, TMEM131L P KIAA0922 gene 616243 REc
4.550 7 6 12 4q31.3 LRBA, LBA, CDC4L, CVID8 P Lipopolysaccharide-responsive, beige-like anchor protein 606453 REc, R Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
4.551 6 12 17 4q31.3 MAB21L2, MCSKS14 P MAB21, C. elegans, homolog-like 2 604357 REc Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 (3)
4.552 8 27 15 4q31.3 MND1 P Meiotic nuclear division 1, S. cerevisiae, homolog of 611422 REc
4.553 2 11 98 4q32.1 PPID C Peptidylprolyl isomerase D (cyclophilin D) 601753 REa, A
4.554 10 19 99 4q31.3 SFRP2, SARP1 C Secreted frizzled-related protein 2 604157 REa, R, H 3(Sfrp2)
4.555 12 13 06 4q31.3 SH3D19, EBP P SH3 domain protein 19 608674 REc, Ch fused with AML1 in t(4;21)
4.556 11 11 14 4q31.3 SNORD73A, RNU73 P Small nucleolar RNA, C/D box 73A 603568 A
4.557 7 7 15 4q31.3 TRIM2, KIAA0517, CMT2R C Tripartite motif-containing protein 2 614141 R, REc Charcot-Marie-Tooth disease, type 2R, 615490 (3)
4.558 12 17 15 4q32.1 ASIC5, HINAC C Acid-sensing ion channel family member 5 616693 REc, H 3(Asic5)
4.559 6 10 94 4q32.2 NPY1R P Neuropeptide Y receptor 162641 A 8(Npy1r)
4.560 12 18 07 4q31.3-q32.3 HSCR9 P Hirschsprung disease, susceptibility to, 9 611644 Fd between D4S3049 and D4S1566 {Hirschsprung disease, susceptibility to, 9} (2)
4.561 4 22 09 4q32.1 ASAP P Aster-associated protein 610070 REc
4.562 4 29 14 4q32.1 GUCY1A3, GUC1A3, GUCSA3, MYMY6 P Guanylate cyclase 1, soluble, alpha 3 139396 A Moyamoya 6 with achalasia, 615750 (3)
4.563 8 18 98 4q32.1 GUCY1B3, GUC1B3, GUCSB3 P Guanylate cyclase 1, soluble, beta 3 139397 A
4.564 2 16 04 4q32.1 PDGFC P Platelet-derived growth factor C 608452 R, REc
4.565 8 18 15 4q32.1 RXFP1, LGR7 P Relaxin/insulin-like family peptide receptor 1 606654 A
4.566 4 5 13 4q31.3 TLR2, TIL4 C Toll-like receptor-2 603028 A {Leprosy, susceptibility to}, 246300 (3); {Colorectal cancer, susceptibility to}, 114500 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
4.567 2 21 10 4q34.3 AGA C Aspartylglucosaminidase 613228 S, F, D, A Aspartylglucosaminuria, 208400 (3) 8(Aga)
4.568 11 30 06 4p15.32 CPEB2 P Cytoplasmic polyadenylation element-binding protein 2 610605 REc 5(Cpeb2)
4.569 3 1 94 4q32.1 GRIA2, GLUR2 C Glutamate receptor, ionotropic, AMPA 2 138247 Psh, A 3(Glur2)
4.570 10 15 09 4q32.3 TLL1, TLL, ASD6 P Tolloid-like 1 606742 A Atrial septal defect 6, 613087 (3) 8(Tll1)
4.571 7 31 08 4q32-q34 RP29 P Retinitis pigmentosa 29 612165 Fd maximum lod at D4S415 Retinitis pigmentosa 29 (2)
4.572 2 25 16 4q32.3 MSMO1, SC4MOL, ERG25, MCCPD P Methylsterol monooxygenase 1 607545 A Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3)
4.573 8 25 03 4q32.1 ETFDH, MADD C Electron transfer flavoprotein:ubiquinone oxidoreductase 231675 REa, A Glutaric acidemia IIC, 231680 (3) 3(Etfdh)
4.574 2 5 15 4q32.1 C4orf46, RCDG1 P Chromosome 4 open reading frame 46 616210 REc
4.575 10 2 12 4q32.1 CTSO P Cathepsin O 600550 REc
4.576 5 19 09 4q32.1 FNIP2, FNIPL, KIAA1450 C Folliculin-interacting protein 2 612768 R, REc
4.577 1 27 11 4q32.1-q32.2 TRIP4q32.1q32.2, C4TRIPq32.1q32.2 P Chromosome 4q32.1-q32.2 triplication syndrome 613603 Ch Chromosome 4q32.1-q32.2 triplication syndrome (4)
4.578 1 28 08 4q33 AADAT, KAT2 C Alpha-aminoadipate aminotransferase 611754 A, REc, H 8(Aadat)
4.579 2 16 18 4q32.2 NAF1 P Nuclear assembly factor 1 ribonucleoprotein 617868 REc 8(Naf1)
4.580 6 7 10 4q32.2-q32.3 MARCH1 P Membrane-associated RING-CH finger protein 1 613331 REc
4.581 8 30 09 4q32.3 ANP32C, PP32R1 P Acidic leucine-rich nuclear phosphoprotein 32 family, member C 606877 Psh, REc
4.582 8 25 17 4q32.3 ELA, LOC100506013 P Elabela 615594 REc
4.583 8 30 07 4q32.3 CINN P Cinnamon odor, pleasantness of 611109 Fd max lod at AFM295YES [Cinnamon odor, pleasantness of] (2)
4.584 8 30 09 4q32.3 CPE P Carboxypeptidase E 114855 REa, H, REc 8(Cpe)
4.585 6 11 11 4q32.3 DDX60 P DEAD box polypeptide 60 613974 REc
4.586 1 4 16 4q32.3 DDX60L P DEAD box polypeptide 60-like 616725 REc
4.587 12 17 07 4q32.3 HDLCQ4 P High density lipoprotein cholesterol level QTL 4 610239 Fd between D4S1597 and D4S1539 [High density lipoprotein cholesterol level QTL 4] (2)
4.588 8 26 15 4q33 MFAP3L, KIAA0626 C Microfibrillar-associated protein 3-like 616523 REc, Psh
4.589 1 9 07 4q32.3 PALLD, KIAA0992, PNCA1 C Palladin, mouse, homolog of 608092 R, REc, Fd {Pancreatic cancer, susceptibility to, 1}, 606856 (3)
4.590 1 11 07 4q32.3 SPOCK3 P SPARC/osteonectin, CWCV, and KAZAL-like domains proteoglycan 3 607989 REc
4.591 1 12 07 4q32.3 ANXA10 P Annexin A10 608008 A 8(Anxa10)
4.592 4 8 98 4q33 CLCN3 C Chloride channel-3 600580 REc, Fd, A 8(Clcn3)
4.593 11 10 05 4q34.1 HAND2, DHAND2, DHAND P Heart- and neural crest derivative-expressed 2 602407 R
4.594 5 19 16 4q33 HPF1, C4orf27 P Histone parylation factor 1 616614 REc
4.595 3 5 18 4q33 NEK1, SRTD6, SRPS2A, ALS24 P Never in mitosis gene A-related kinase 1 604588 REc 1 patient showed heterozygous NEK2 and DYNC2H1 mutations Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3); {Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3)
4.596 10 20 98 4q34.1 GLRA3 P Glycine receptor, alpha-3 polypeptide 600421 A 8(Glra3)
4.597 4 3 03 4q34.1 MORF4, SEN1, CSRB P Mortality factor 4 (senescence-related, cellular, 1) 116960 M, A
4.598 10 7 02 4q33-qter HCA1 P Hypercalciuria, absorptive, 1 607258 Ch Hypercalciuria, absorptive (2)
4.599 1 29 01 4q34.1 ADAM29 C A disintegrin and metalloproteinase domain 29 604778 R
4.600 9 28 96 4q34.2 GPM6A, M6A C Glycoprotein M6A 601275 A
4.601 11 2 04 4q34.2 WDR17 P WD repeat-containing protein 17 609005 A
4.602 8 11 14 4q34.3 VEGFC, VRP, LMPH1D P Vascular endothelial growth factor C 601528 REc Lymphedema, hereditary, ID, 615907 (3)
4.603 4 20 10 4q34.3-q35.1 SCA30 L Spinocerebellar ataxia 30 613371 Fd between rs1397413 and rs2175476; max lod 3.0 ?Spinocerebellar ataxia 30 (2)
4.604 10 16 12 4q34.3-q35.2 HMSN5 P Hereditary motor and sensory neuropathy V 600361 Fd D4S1552 and D4S2930 Hereditary motor and sensory neuropathy V (2)
4.605 9 18 08 4q35.1 ACSL1, FACL2, FACL1, LACS, ACS1 C Acyl-CoA synthetase long-chain family member 1 152425 REb, A
4.606 2 18 96 4q35.2 FAT1, FAT P FAT tumor suppressor, Drosophila, homolog of, 1 600976 A
4.607 1 24 12 4q34.1 HPGD, PGDH1, PHOAR1 P Hydroxyprostaglandin dehydrogenase 15-(NAD) 601688 REa, A Cranioosteoarthropathy, 259100 (3); Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3); Digital clubbing, isolated congenital, 119900 (3)
4.608 9 9 08 4q34.1 FBXO8, FBX8, FBS P F-box only protein 8 605649 REc 8(Fbxo8)
4.609 4 6 13 4q34.1 GALNTL6, GALNACT20 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 615138 REc
4.610 12 6 16 4q34.1 HAND2AS1, UPH, DEIN P HAND2 antisense RNA 1, noncoding (Upperhand) 617240 REc
4.611 3 23 15 4q34.1 MIR4276 P Micro RNA 4276 616274 REc
4.612 7 20 12 4q34.1 SAP30 P SIN3-associated polypeptide, 30kD 603378 REc
4.613 8 16 12 4q34.1 SCRG1 P Scraptie-responsive gene 1 603163 REc
4.614 3 22 06 4q34.2 SPATA4, TSARG2 P Spermatogenesis-associated protein 4 609879 REc
4.615 1 31 13 4q34.2 ASB5 P Ankyrin repeat- and SOCS box-containing protein 5 615050 REc
4.616 5 7 01 4q35.1 ALP P Actinin-associated LIM protein 605889 A
4.617 5 8 97 4q35.1 CASP3, CPP32 P Caspase 3, apoptosis-related cysteine protease 600636 A, REc
4.618 10 25 12 4q35.2 DBET P D4A4 binding element transcript, noncoding 614865 REc
4.619 3 19 03 4q35.1 DCTD P Deoxycytidylate deaminase 607638 A
4.620 3 22 01 4q35 DKBI P Dyskeratosis, hereditary benign intraepithelial 127600 Fd Dyskeratosis, hereditary benign intraepithelial (2)
4.621 6 18 01 4q35.2 DUX4 P Double homeo box protein 4 606009 REc
4.622 12 27 13 4q35.2 DUX4L9, DUX4C P Double homeobox 4-like 9 615581 REc
4.623 12 22 08 4q35.2 F11 C Coagulation factor XI (plasma thromboplastin antecedent) 264900 A, H, Fd not closely linked to MNS Factor XI deficiency, autosomal recessive, 612416 (3); Factor XI deficiency, autosomal dominant, 612416 (3) 8(cf11)
4.624 8 18 98 4q35.2 FRG1, FSG1 P Facioscapulohumeral muscular dystrophy region gene-1 601278 REn
4.625 11 22 05 4q35.2 FRG2 P Facioscapulohumeral muscular dystrophy region gene 2 609032 REn
4.626 7 19 04 4q35 FSHD1, FSHD1A C Facioscapulohumeral muscular dystrophy 1 158900 Fd, REc due to D4Z4 macrosatellite repeat on 4q35 Facioscapulohumeral muscular dystrophy 1 (4) ?8(myd)
4.627 7 30 15 4q35.2 KLKB1, KLK3, PKKD P Kallikrein B plasma 1 (Fletcher factor) 229000 A similar to F11 Fletcher factor (prekallikrein) deficiency, 612423 (3) 8(Kal3)
4.628 11 22 16 4q35.1 SLC25A4, ANT1, T1, PEO3, PEO2, MTDPS12A, PEOA2 C Solute carrier family 25 (mitochondrial carrier) member 4 (adenine nucleotide translocator-1, skeletal muscle) 103220 REa, REb, A, Fd Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3); Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3); Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3) 8(Ant1)
4.629 2 24 17 4q35.1 STOX2, KIAA1392 C Storkhead box 2 617359 Psh
4.630 3 14 18 4q35.1 TLR3, IIAE2 P Toll-like receptor-3 603029 A {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3); {HIV1 infection, resistance to}, 609423 (3)
4.631 9 27 01 4q35-qter DFNA24 P Deafness, autosomal dominant 24 606282 Fd Deafness, autosomal dominant 24 (2)
4.632 9 23 13 4q35.1 CCDC111, MYP22 P Coiled-coil domain containing 111 615421 REc Myopia 22, autosomal dominant, 615420 (3)
4.633 8 18 14 4q35.1 CDKN2AIP, CARF C Cyclin-dependent kinase inhibitor 2A-interacting protein 615914 REc
4.634 10 12 14 4q35.1 CFAP97, HMW, KIAA1430 P Cilia- and flagella-associated protein 97 616047 R, REc
4.635 5 31 05 4q35.1-q35.2 CYP4V2, BCD C Cytochrome P450, family 4, subfamily V, polypeptide 2 608614 Fd, REc Bietti crystalline corneoretinal dystrophy, 210370 (3)
4.636 6 28 16 4q35.1 ENPP6 P Ectonucleotide pyrophosphatase/phosphodiesterase 6 616983 REc
4.637 6 27 17 4q35.1 HELT, HESL, MGN P HELT basic helix-loop-helix transcription factor 617546 REc 8(Helt)
4.638 3 2 06 4q35.1 ING2, ING1L P Inhibitor of growth 2 604215 A, R
4.639 11 4 93 4q35.1 IRF2 P Interferon regulatory factor-2 147576 A
4.640 8 1 05 4q35.1 KMHN1 P Cancer/testis antigen KM-HN-1 609488 REc
4.641 10 8 07 4q35.1 MLF1IP, CENPU, CENP50 P MLF1-interacting protein (centromere protein U) 611511 REc, H 8(Mlf1ip)
4.642 10 22 95 4q35.2 MTNR1A P Melatonin receptor 1A 600665 REa, Psh 8(Mtnr1a)
4.643 5 19 15 4q35.1 SORBS2, ARGBP2, KIAA0777 P Sorbin and SH3 domains-containing protein 2 616349 REc
4.644 8 1 16 4q34.3-q35.1 TENM3, ODZ3, TNM3, KIAA1455, MCOPCB9 P Teneurin transmembrane protein 3 610083 REc, R Microphthalmia, isolated, with coloboma 9, 615145 (3)
4.645 8 7 13 4q35.1 TRAPPC11, C4orf41, LGMD2S P Trafficking protein particle complex, subunit 11 614138 REc Muscular dystrophy, limb-girdle, type 2S, 615356 (3)
4.646 7 31 15 4q35.1 UFSP2, C4orf20, BHD P UFM1-specific protease 2 611482 REc mutation identified in 1 BHD family ?Hip dysplasia, Beukes type, 142669 (3)
4.647 10 2 12 4q35.2 DUX2 P Double homeobox protein 2 611442 REc ?10q26.3
4.648 4 19 12 4q35.2 ZFP42, REX1 P Zinc finger protein 42 614572 REc, H 8(Zfp42)
4.649 1 9 94 Chr.4 LAG5 P Leukocyte antigen group 5 151450 S Neutropenia, neonatal alloimmune (1)
4.650 12 21 09 4p16.1 MIR95, MIRN95 P Micro RNA 95 613185 REc
4.651 10 23 87 Chr.4 TS13 P Temperature sensitivity complementation, ts13 187320 S
5.1 7 13 15 5p15.33 NDUFS6 P NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kD 603848 R Mitochondrial complex I deficiency, 252010 (3)
5.2 1 11 93 5p15.31 ADCY2 C Adenylyl cyclase-2, brain 103071 A, REa 13(Adcy2)
5.3 12 27 01 5p15.33 AHRR, KIAA1234 C Arylhydrocarbon receptor repressor 606517 R, A 13(Ahrr)
5.4 8 17 01 5p15.33 IRX1 P Iroquois homeo box protein 1 606197 A
5.5 8 17 01 5p15.33 IRX2 P Iroquois homeo box protein 2 606198 A
5.6 7 3 06 5p15.33 IRX4 P Iroquois homeobox protein 4 606199 REa, R, H 13(Irx4)
5.7 3 5 08 5p15.33 MRPL36 P Mitochondrial ribosomal protein L36 611842 REc
5.8 3 31 15 5p15.33 NKD2 P Naked cuticle, Drosophila, homolog of, 2 607852 REc, R
5.9 5 12 00 5p15.33 SLC12A7, KCC4 P Solute carrier family 12 (potassium/chloride transporters), member 7 604879 R, REa
5.10 1 31 13 5p15.33 SLC6A3, DAT1, PKDYS C Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 126455 Psh, A, Fd {Nicotine dependence, protection against}, 188890 (3); Parkinsonism-dystonia, infantile, 613135 (3) 13(Dat1)
5.11 3 20 16 5p15.33 SLC9A3, NHE3, DIAR8 C Solute carrier family 9 (sodium/hydrogen exchanger), member 3 182307 REa, Fd pseudogene on chr.10 Diarrhea 8, secretory sodium, congenital, 616868 (3) 13(Slc9a3)
5.12 7 22 09 5p15.33 TPPP, P25, P24 P Tubulin polymerization-promoting protein 608773 Psh, R
5.13 2 25 15 5p15.33 AYTL2, LPCAT, LPCAT1 P Acyltransferase-like 2 610472 REc
5.14 10 6 09 5p15.33 BCC3 P Basal cell carcinoma, susceptibility to, 3 613059 Fd {Basal cell carcinoma, susceptibility to, 3} (2)
5.15 5 26 13 5p15.33 CEI P Coordinated expression to IRXA2 610522 REc
5.16 7 23 15 5p15.33 CEP72, KIAA1519 P Centrosomal protein, 72kD 616475 REc
5.17 2 17 09 5p15.33 CLPTM1L, CRR9 P CLPTM1-like protein 612585 REc
5.18 9 8 11 5p15.33 EXOC3, SEC6 P Exocyst complex component 3 608186 REc
5.19 11 26 09 5p15.33 GLM8 P Glioma susceptibility 8 613033 Fd associated with rs2736100 {Glioma susceptibility 8} (2)
5.20 2 18 09 5p15.33 LNCR3 P Lung cancer susceptibility 3 612571 Fd associated with rs402710 and rs2736100 {Lung cancer susceptibility 3} (2)
5.21 5 22 14 5p15.33 LSINCT5 P Long stress-induced noncoding transcript 5 615764 REc
5.22 11 11 14 5p15.33 PDCD6, ALG2 P Programmed cell death 6 601057 REc
5.23 9 9 09 5p15.33 SLC6A18, XTRP2 P Solute carrier family 6 (neurotransmitter transporter), member 18 610300 REc
5.24 4 20 10 5p15.33 SLC6A19, HND C Solute carrier family 6 (neurotransmitter transporter), member 19 608893 REc, Fd Hartnup disorder, 234500 (3); Iminoglycinuria, digenic, 242600 (3); Hyperglycinuria, 138500 (3) 13(Slc6a19)
5.25 5 26 15 5p15.33 TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9 C Telomerase reverse transcriptase 187270 R, D deleted in cri du chat {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3); {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3); {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3); {Leukemia, acute myeloid}, 601626 (3); {Melanoma, cutaneous malignant, 9}, 615134 (3)
5.26 7 27 17 5p15.33 TRIP13, 16E1BP, MVA3 P Thyroid hormone receptor interactor 13 604507 REc Mosaic variegated aneuploidy syndrome 3, 617598 (3)
5.27 1 27 09 5p15.33-p15.2 MYP16 P Myopia 16 612554 Fd max lod at D5S2505 Myopia 16 (2)
5.28 8 29 08 5p15.33-p13.1 MCDR3 P Macular dystrophy, retinal, 3 608850 Fd maximum lod at D5S630 Macular dystrophy, retinal, 3 (2)
5.29 6 17 17 5p15.31 FASTKD3 P Fast kinase domains 3 617530 REc
5.30 6 1 15 5p15.31 LINC01018, SRHC P Long intergenic noncoding RNA 1018 616385 REc
5.31 10 30 08 5p15.31 MED10, NUT2 P Mediator complex subunit 10 612382 REc
5.32 5 30 17 5p15.31 NSUN2, TRM4, SAKI, MISU, MRT5 P NOP2/SUN RNA methyltransferase family, member 2 610916 REc Mental retardation, autosomal recessive 5, 611091 (3) 13(Nsun2)
5.33 6 22 14 2q11.2 SEMA4C, SEMAF, KIAA1739 P Semaphorin 4C 604462 REc
5.34 7 18 14 5p15.31 UBE2QL1 P Ubiquitin-conjugating enzyme E2Q family-like protein 1 615832 REc
5.35 12 19 11 5p15.31-p15.1 FAME3, FCMTE3 P Epilepsy, myoclonic, familial adult, 3 613608 Fd between D5S580 and D5S2096 Epilepsy, myoclonic, familial adult, 3 (2)
5.36 7 31 06 5p15.31 MTRR P Methionine synthase reductase 602568 Psh, A Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3); {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
5.37 5 30 06 5p15.2 CCT5, KIAA0098, CCTE P chaperonin containing TCP1, subunit 5 (epsilon) 610150 REc, Fd Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
5.38 4 26 10 5p15.2 CMBL P Carboxymethylenebutenolidase-like protein 613379 REc 15(Cmbl)
5.39 1 29 14 5p15.2 CTNND2, NPRAP P Catenin, delta-2 604275 Psh, A
5.40 1 4 96 5p15.2 DAP P Death-associated protein 600954 REa
5.41 8 30 16 5p15.2 LINC01194, TAG C Long intergenic noncoding RNA 1194 617097 REc
5.42 3 16 10 5p15.2 MARCH6, TEB4, DOA10, KIAA0597 C Membrane-associated RING-CH finger protein 6 613297 REc
5.43 9 1 16 5p15.2 OTULIN, FAM105B, GUM, AIPDS P OTU deubiquitinase with linear linkage specificity 615712 REc Autoinflammation, panniculitis, and dermatosis syndrome, 617099 (3) 15(Otulin)
5.44 1 28 08 5p15.2 ROPN1L, ASP P ROPN1-like protein 611756 R, REc
5.45 10 14 09 5p15.31 SEMA5A, SEMF P Semaphorin 5a 609297 REc 15(Sema5a)
5.46 7 1 02 5p14.3 CDH18, CDH14 P Cadherin 18 603019 R, Fd
5.47 2 17 09 5p15.2-p14 ADIPQTL2, CAQ5 P Adiponectin, serum level of, QTL 2 606770 Fd near D5S817 {Adiponectin, serum level of, QTL2} (2)
5.48 11 2 02 5p15.2 ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD C Ank, mouse, homolog of 605145 R, Fd Craniometaphyseal dysplasia, 123000 (3); Chondrocalcinosis 2, 118600 (3) 15(ank)
5.49 7 14 06 5p15.2-p14.3 ANIB4 P Aneurysm, intracranial berry, 4 610213 Fd max lod at D5S1954 Aneurysm, intracranial berry, 4 (2)
5.50 10 8 07 5q12.3 CEMPK, SOLT P Centromeric protein K 611502 REc
5.51 11 13 09 5p15.1 FAM134B, HSAN2B P Family with sequence similarity 134, member B 613114 REc Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
5.52 8 31 09 5p15.1 FBXL7, FBL7 C F-box and leucine-rich repeat protein 7 605656 R, REc 15(Fbxl7)
5.53 6 7 10 5p15.1 MARCH11 P Membrane-associated RING-CH finger protein 11 613338 REc
5.54 10 31 13 5p15.1 PVNH3 P Periventricular nodular heterotopia 3 608098 A, Ch Periventricular nodular heterotopia 3 (2)
5.55 9 27 17 5p15.1 ZNF622, ZPR9 C Zinc finger protein 622 608694 REc, R
5.56 5 7 01 5p15.1 BASP1, CAP23, NAP22 P Brain-abundant signal protein, membrane-attached, 1 605940 A
5.57 7 1 02 5p13.3 CDH6 P Cadherin 6 603007 R, Fd
5.58 5 30 17 5p13.2 RXFP3, RLN3R1, SALPR, GPCR135 P Relaxin/insulin-like family peptide receptor 3 609445 R
5.59 9 6 16 5p15.2 TRIO, MRD44 P Triple functional domain 601893 A Mental retardation, autosomal dominant 44, 617061 (3)
5.60 11 12 96 5p15.1 MYO10 P Myosin X 601481 A 15(Myo10)
5.61 6 11 11 5p15.1-p13.3 MYP19 P Myopia 19, autosomal dominant 613969 Fd highest lod at D5S419 Myopia 19 (2)
5.62 4 3 09 5p15.32 ADAMTS16 P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 16 607510 REc
5.63 9 27 01 5p15.31 POLS, TRF4, POLK P Polymerase, DNA, sigma 605198 REc
5.64 8 25 11 5p15.33 SDHA, SDH1, SDHF, CMD1GG, PGL5 C Succinate dehydrogenase complex, subunit A, flavoprotein 600857 A copy on 3q29 Leigh syndrome, 256000 (3); Mitochondrial respiratory chain complex II deficiency, 252011 (3); Cardiomyopathy, dilated, 1GG, 613642 (3); Paragangliomas 5, 614165 (3)
5.65 12 9 91 5p15.31 SRD5A1 P Steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) 184753 REa, A pseudogene on X 13(Srd5a1)
5.66 4 5 00 5p15.31 TRB7, T2R1 P Taste receptor, family B, member 7 604796 REc 15(T2R19)
5.67 11 22 10 5p15 TST2 P Tuberculin skin test reactivity quantitative trait locus 613637 Fd max lod at 16:2.70Mb [Tuberculin skin test reactivity QTL] (2)
5.68 12 4 08 5p15.2 DNAH5, HL1, PCD, CILD3 C Dynein, axonemal, heavy chain 5 603335 REn, Fd Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) 15(Dnahc5)
5.69 4 26 17 5q14.3 POLR3G, RPC32, RPC7 P Polymerase III, RNA, subunit G 617456 REc
5.70 3 24 06 5p14.1 CDH9 P Cadherin 9 609974 REc
5.71 8 15 90 5p14 MLVI2 P Moloney leukemia virus integration site-2 157960 REa, A 15(Mlvi2)
5.72 3 18 94 5p14.3 PMCHL1 P Pro-melanin-concentrating hormone-like 1 176793 REa, A
5.73 2 18 10 5p14.2 PRDM9 P PR domain-containing protein 9 609760 REc
5.74 3 8 00 5p14.2-p14.1 CDH10 P Cadherin 10 604555 A
5.75 9 14 95 5p14.3 CDH12, CDHB P Cadherin-12 (N-cadherin 2) 600562 A pseudogene on 5q13 in SMA region
5.76 10 23 87 5p12 HMGCS1 C 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 142940 S, REa, A like HMGCR, regulated transcriptionally by steroid
5.77 11 9 05 5p13.3 RNASEN, DROSHA, RANSE3L, RN3 P Ribonuclease III, nuclear 608828 A 15(Rnasen)
5.78 1 1 96 5p13.3 NPR3, ANPRC P Natriuretic peptide receptor C 108962 REa, A ?Hypertension, salt-resistant (1)
5.79 9 2 08 5p13.3 GOLPH3, GPP34, MIDAS P Golgi phosphoprotein 3 612207 R, REc
5.80 8 31 09 5p13.3 MTMR12, 3PAP, KIAA1682 P Myotubularin-related protein 12 606501 R, REa, REc
5.81 8 9 13 5p13.2 SLC45A2, MATP, AIM1, SHEP5, OCA4 P Solute carrier family 45, member 2 606202 REc Albinism, oculocutaneous, type IV, 606574 (3); [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3); [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3); [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
5.82 10 2 12 5p13.3 SUB1, PC4, p15 P Sub1, S. cerevisiae, homolog of 600503 REc
5.83 2 13 14 5p13.3 ZFR P Zinc finger RNA-binding protein 615635 REc
5.84 12 17 14 5p13.3-p13.2 BDA1B P Brachydactyly, type A1, locus B 607004 Fd Brachydactyly, type A1, B (2)
5.85 12 10 98 5p13.2 RAD1 P RAD1, S. pombe, homolog of 603153 A
5.86 12 27 01 5p13.2 RAI14, KIAA1334 P Retinoic acid-induced 14 606586 REa, A
5.87 11 5 14 5p13.2 C5orf42, JBTS17, OFD6 P Chromosome 5 open reading frame 42 614571 REc Joubert syndrome 17, 614615 (3); Orofaciodigital syndrome VI, 277170 (3)
5.88 8 1 16 5p13.2 DNAJC21, DNAJA5, BMFS3 C DNAJ/HSP40 homolog, subfamily C, member 21 617048 R, REc Bone marrow failure syndrome 3, 617052 (3)
5.89 9 21 17 5p13.2-p13.1 EGFLAM, PIKA, AGRINL C EGF-like, fibronectin type III, and laminin G domains-containing protein 617683 REc
5.90 2 23 09 5p13.2 MS3 P Multiple sclerosis, susceptibility to, 3 612595 Fd associated with rs6897932 {Multiple sclerosis, susceptibility to, 3} (2)
5.91 10 12 14 5p13.2 NADK2, C5orf33, DECRD P NAD kinase 2, mitochondrial 615787 REc mutation identified in 1 DECRD family ?2,4-dienoyl-CoA reductase deficiency, 616034 (3)
5.92 1 17 07 5p13.3 PDZD2, PAPIN, PIN1, AIPC C PDZ domain containing 2 610697 R, REc
5.93 12 27 13 5p13.2 PRLR, MFAB, HPRL P Prolactin receptor 176761 REa, A, REc mutation identified in 1 family with HPRL Multiple fibroadenomas of the breast, 615554 (3); ?Hyperprolactinemia, 615555 (3)
5.94 6 2 15 5p13.2 RANBP3L P RAN-binding protein 3-like 616391 REc
5.95 8 19 13 5p13.2 SPEF2, KPL2, KIAA1770 P Sperm flagellar 2 610172 Psh, REc
5.96 6 2 15 5p13.2 TTC23L P Tetratricopeptide repeat domain-containing protein 23-like 616344 REc
5.97 6 2 15 5p13.2 UGT3A1 P Uridine diphosphate glucuronosyltransferase 3 family, member A1 616383 REc 15(Ugt3a1)
5.98 6 2 15 5p13.2 UGT3A2 P Uridine diphosphate glucuronosyltransferase 3 family, member A2 616384 REc 15(Ugt3a2)
5.99 12 6 16 5p13.2 WDR70 P WD repeat-containing protein 70 617233 REc
5.100 10 26 11 5p13.2 AMACR, CBAS4, AMACRD P Alpha-methylacyl-CoA racemase 604489 TM Alpha-methylacyl-CoA racemase deficiency, 614307 (3); Bile acid synthesis defect, congenital, 4, 214950 (3)
5.101 4 21 17 5p13.1 FYB, SLAP130, ADAP, THC3 P FYN-binding protein 602731 REc Thrombocytopenia 3, 273900 (3)
5.102 9 24 08 5p13.1 IBD18 P Inflammatory bowel disease 18 612262 Fd associated with rs1373692 {Inflammatory bowel disease 18} (2)
5.103 2 10 04 5p13.1 LIFR, STWS, SWS, SJS2 C Leukemia inhibitory factor receptor 151443 REa, Fd Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3) 15(Lifr)
5.104 2 26 08 5p13.1 OSMR, OSMRB, PLCA1 C Oncostatin M receptor 601743 REc, Fd Amyloidosis, primary localized cutaneous, 1, 105250 (3)
5.105 5 19 04 5p13.2 NIPBL, CDLS1 C Nipped-B-like (delangin) 608667 Ch, REc Cornelia de Lange syndrome 1, 122470 (3) 15(Nipbl)
5.106 7 1 16 5p13.1 PLCXD3 P Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 3 617016 REc
5.107 12 14 99 5p13.1 PTGER4 P Prostaglandin E receptor 4, EP4 subtype 601586 A
5.108 3 23 06 5p13.1 CARD6, CINCIN1 C Caspase recruitment domain-containing protein 6 609986 REc, H 15(Card6)
5.109 1 25 11 5p13.2 GDNF, HSCR3 C Glial cell line derived neurotrophic factor 600837 A, Psh Central hypoventilation syndrome, 209880 (3); {Pheochromocytoma, modifier of}, 171300 (3); {Hirschsprung disease, susceptibility to, 3}, 613711 (3)
5.110 9 22 04 5p13 ADHD4 P Attention deficit-hyperactivity disorder, susceptibility to, 4 608906 Fd {Attention deficit-hyperactivity disorder}, 143465 (2)
5.111 5 30 17 5p13.2 AGXT2, AGT2, BAIBA P Alanine-glyoxylate aminotransferase 2 612471 REc [Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)
5.112 6 9 08 5p13.2 C1ATNF3, CTRP3, CORS26 P C1q- and tumor necrosis factor-related protein 3 612045 A, H 15(C1qtnf3)
5.113 12 4 08 5p13.1 C6 C Complement component-6 217050 A, H, RE, Fd, LD C6 deficiency, 612446 (3); Combined C6/C7 deficiency (3) 15(C6)
5.114 7 3 06 5p13.1 C7 C Complement component-7 217070 A, H, RE, Fd, LD C7 deficiency, 610102 (3) 15(C7)
5.115 1 7 14 5p13.1 C9, C9D, ARMD15 C Complement component-9 120940 REa, A, Fd, LD C9 deficiency, 613825 (3); {Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
5.116 12 18 98 5p13.1 DAB2, DOC2 P Disabled, Drosophila, homolog of, 2 (differentially expressed in ovarian cancer-2) 601236 A, REa
5.117 2 16 10 5p13 DUP5p13, C5DUPp13 P Chromosome 5p13 duplication syndrome 613174 Ch Chromosome 5p13 duplication syndrome (4)
5.118 1 20 09 5p13.2 IL7R, IL7RA, CD127 C Interleukin-7 receptor 146661 REa, A Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
5.119 7 3 06 5p13 KYPSC1 P Kyphoscoliosis 1 610170 Fd Kyphoscoliosis 1 (2)
5.120 5 22 14 5p13.2 NUP155, KIAA0791, ATFB15 C Nucleoporin, 155kD 606694 A, R mutation identified in 1 ATFB15 family ?Atrial fibrillation 15, 615770 (3)
5.121 8 25 06 5p13.1 OXCT1, OXCT, SCOT C 3-oxoacid CoA transferase 1 601424 A Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
5.122 9 23 96 5p13.2 SKP2 P S-phase kinase-associated protein 2 (p45) 601436 A
5.123 3 31 09 5p13.2 SLC1A3, EAAT1, EA6 C Solute carrier family 1 (glial high affinity glutamate transporter), member 3 600111 A Episodic ataxia, type 6, 612656 (3) 15(Eaat1)
5.124 5 2 06 5p12 FGF10 C Fibroblast growth factor-10 602115 A Aplasia of lacrimal and salivary glands, 180920 (3); LADD syndrome, 149730 (3)
5.125 2 13 15 5p13-p12 GHR, GHIP C Growth hormone receptor 600946 REa, A Laron dwarfism, 262500 (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3); Increased responsiveness to growth hormone (3); Growth hormone insensitivity, partial, 604271 (3) 15(Ghr)
5.126 10 23 87 5p13.3 TARS P Threonyl-tRNA synthetase 187790 S linked to LARS
5.127 7 18 06 5p13-q12 HYT6 P Hypertension, essential, susceptibility to, 6 610262 Fd {Hypertension, essential, susceptibility to, 6}, 145500 (2)
5.128 5 24 13 5p12 ANXA2R, C5orf39, AX2R, AXIIR P Annexin A2 receptor 611296 Psh
5.129 9 9 08 5p12 CCL28 P Chemokine, C-C motif, ligand 28 605240 REc 13(Ccl28)
5.130 9 9 08 5p13.1 FBXO4, FBX4 C F-box only protein 4 609090 A, REc 15(Fbxo4)
5.131 7 17 14 5p12 HCN1, BCNG1, EIEE24 P Hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 602780 REc Epileptic encephalopathy, early infantile, 24, 615871 (3)
5.132 10 11 16 5p12 NNT, GCCD4 P Nicotinamide nucleotide transhydrogenase 607878 A Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3) 13(Nnt)
5.133 8 20 07 5p12 PAIP1 P Polyadenylate-binding protein-interacting protein 1 605184 REc
5.134 11 20 98 5p13.1 PRKAA1 P Protein kinase, AMP-activated, catalytic, alpha-1 602739 A
5.135 5 4 00 5p12 ZNF131 P Zinc finger protein -31 604073 A
5.136 4 24 08 5p12 MRPS30 P Mitochondrial ribosomal protein S30 611991 R, REc
5.137 11 18 16 5p12 SELENOP, SEPP1 P Selenoprotein P 601484 REa, A, R
5.138 9 12 08 5p ASD1 P Atrial septal defect 1 108800 Fd max lod at D5S406 Atrial septal defect 1 (2)
5.139 8 4 97 5p MHS6 P Malignant hyperthermia susceptibility 6 601888 Fd {Malignant hyperthermia susceptibility 6} (2)
5.140 10 20 99 5p13.1 RPL37 P Ribosomal protein L37 604181 REa, R
5.141 5 19 06 5q BSZQTL2 P Bone size quantitative trait locus 2 609657 Fd {Bone size QTL} (2)
5.142 3 5 95 5q11.1 ISL1 P ISL1 transcription factor, LIM/homeodomain (islet-1) 600366 Fd between D5S395 and D5S407; proximal 5q
5.143 10 2 09 5q35.3 PROP1, CPHD2 P Prophet of Pit1, paired-like homeodomain transcription factor 601538 H, R Pituitary hormone deficiency, combined, 2, 262600 (3) 11(df, Prop1)
5.144 5 6 13 5q11.2 ANKRD55 P Ankyrin repeat domain-containing protein 55 615189 REc
5.145 10 1 95 5q11.2 IL6ST C Interleukin-6 signal transducer (gp130, oncostatin M receptor) 600694 A
5.146 11 4 13 5q11.2 MOCS2, MPTS, MOCODB P Molybdenum cofactor synthesis-2 603708 R Molybdenum cofactor deficiency B, 252160 (3)
5.147 8 13 98 5q11.2 GZMA, CTLA3, HFSP C Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease) 140050 REa 13(Ctla3)
5.148 9 1 16 5q14.1 MSH3, FAP4 P mutS, E. coli, homolog of, 3 600887 REn 5' to DHFR Endometrial carcinoma, somatic, 608089 (3); Familial adenomatous polyposis 4, 617100 (3) 13(Msh3)
5.149 2 1 11 5q14.1 ARSB, MPS6 C Arylsulfatase B 611542 S Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3) 13(As1)
5.150 11 16 00 5q13.3 IQGAP2 P IQ motif-containing GTPase-activating protein-2 605401 Psh
5.151 3 7 14 5q11.1 EMB, GP70 P Embigin 615669 REc
5.152 7 3 01 5q11.2 NDUFS4, AQDQ P NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kD (NADH-coenzyme Q reductase) 602694 REa, R Leigh syndrome, 256000 (3); Mitochondrial complex I deficiency, 252010 (3)
5.153 10 4 12 5q11.2 ACTBL2 P Actin, beta-like, 2 614835 REc
5.154 7 17 14 5q11.2 CCNO, UNG2, CILD29 C Cyclin O 607752 Psh, REc Ciliary dyskinesia, primary, 29, 615872 (3)
5.155 4 30 09 5q11.2 DHX29 P DEAH (Asp-Glu-Ala-His) box polypeptide 29 612720 REc
5.156 6 22 14 5q11.2 ESM1 P Endothelial cell-specific molecule 1 601521 REc
5.157 2 20 01 5q11.2 FST, FS P Follistatin 136470 A
5.158 8 18 08 5q11.2 GPBP1, GPBP P GC-rich promoter-binding protein 1 608412 REc
5.159 11 23 16 5q11.2 GPX8 P Glutathione peroxidase 8 617172 REc
5.160 9 26 17 5q11.2 GZMK, TRYP2 C Granzyme K 600784 REc, A
5.161 9 11 14 5q11.2 HSPB3, HSPL27, HMN2C, DHMN2C P Heat-shock 27kD protein 3 604624 A mutation identified in 1 HMN2C family ?Neuronopathy, distal hereditary motor, type IIC, 613376 (3)
5.162 7 22 11 5q11.2 IDAS P IDAS 614086 REc
5.163 3 6 18 5q11.2 IL31RA, GLMR, GPL, PLCA2 P Interleukin 31 receptor A 609510 REc, H mutation identified in 1 PLCA2 patient ?Amyloidosis, primary localized cutaneous, 2, 613955 (3) 13(Il31ra)
5.164 8 31 09 5q11.2 ITGA1, VLA1 P Integrin, alpha-1 192968 H, REc 13(Vla1)
5.165 8 29 11 5q11.2 MAP3K1, MEKK1, MEKK, SRXY6 P Mitogen-activated protein kinase kinase kinase 1 600982 REa, REc 46XY sex reversal 6, 613762 (3) 13(Mekk)
5.166 12 2 09 5q11.2 MIR449A, MIRN449A C Micro RNA 449A 613131 REc
5.167 12 2 09 5q11.2 MIR449B, MIRN449B P Micro RNA 449B 613132 REc
5.168 3 22 01 5q11.2 PELO P Pelota, Drosophila, homolog of 605757 A
5.169 10 26 17 5q11.2 PLPP1, PPAP2A P Phopshplipid phosphatase 1 607124 REc
5.170 12 28 08 5q13.1-q13.2 SLC30A5, ZNT5, ZTL1 C Solute carrier family 30 (zinc transporter), member 5 607819 REc
5.171 3 31 15 5q11.2 SLC38A9, URLC11 P Solute carrier family 38, member 9 616203 REc
5.172 7 16 02 5q11.2 DDX4, VASA P DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4 (vasa, Drosophila, homolog of) 605281 R, A 13(Ddx4)
5.173 12 19 11 5q12.3 SREK1, SFRS12, SRRp508 P Splicing regulatory glutamine/lysine-rich protein 1 609268 REc
5.174 6 7 12 5q12.3 HTR1A, ADRB2RL1, PFMCD C 5-hydroxytryptamine (serotonin) receptor-1A 109760 REa, A, Fd Periodic fever, menstrual cycle dependent, 614674 (3) 13(Htr1a)
5.175 12 4 01 5q13.2 TAF9, TAF2G, TAFII32 C TAF9 RNA polymerase II, TATA box-binding protein-associated factor, 32kD 600822 REa, Psh, A
5.176 3 31 11 5q14.1 DHFR C Dihydrofolate reductase 126060 S, REa, H, D Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3) 13(Dhfr)
5.177 3 5 95 5q13.3 CRHBP C Corticotropin releasing hormone-binding protein 122559 Psh 13(Crhbp)
5.178 8 31 09 5q12.3 ADAMTS6 P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 6 605008 REa, REc
5.179 8 24 92 5q13.2 CCNB1 C Cyclin B1 123836 A, REa 13(Cycb4)
5.180 1 23 13 5q12.3 CD180, LY64, RP105 P CD180 antigen 602226 A 13(Ly64)
5.181 3 7 14 5q12 DEL5q12, C5DELq12 P Chromosome 5q12 deletion syndrome 615668 Ch Chromosome 5q12 deletion syndrome (4)
5.182 6 11 02 5q12.3 ERBB2IP, ERBIN C ERBB2 interacting protein 606944 R, REc
5.183 5 25 12 5q12.1 ERCC8, CKN1, CSA, UVSS2 C Excision repair cross-complementing rodent repair deficiency, complementation group 8 609412 Psh Cockayne syndrome, type A, 216400 (3); UV-sensitive syndrome 2, 614621 (3)
5.184 2 2 16 5q13.3 GCNT4 P Glucosaminyl (N-acetyl) transferase 4, core 2 616782 A
5.185 6 1 00 5q12.1 PART1 P Prostate androgen-regulated transcript 1 604991 R, A
5.186 5 4 12 5q11.2-q12.1 PDE4D, DPDE3, STRK1, ACRDYS2 C Phosphodiesterase-4D, cAMP-specific (dunce, Drosophila, homolog of, phosphodiesterase-E3) 600129 REa, A, Fd {Stroke, susceptibility to, 1}, 606799 (3); Acrodysostosis 2, with or without hormone resistance, 614613 (3) 13(Pde4D)
5.187 8 27 01 5q13.2 ANKRA2, ANKRA P Ankyrin repeat-containing protein, family A, member 2 605787 R, Psh
5.188 8 29 08 5q14.1 CMYA5, MYOSPRYN, TRIM76 P Cardiomyopathy-associated protein 5 612193 REc 13(Cmya5)
5.189 4 24 96 5q13.2 FOXD1, FKHL8 P Forkhead box D1 601091 A
5.190 5 31 05 5q13.2 MCCC2, MCCB C 3-Methylcrotonyl-CoA carboxylase 2 609014 R 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)
5.191 8 9 05 5q11.2 PLK2, SNK P Polo-like kinase 2 607023 R
5.192 3 18 94 5q13.2 PMCHL2 P Pro-melanin-concentrating hormone-like 2 176794 REa, A
5.193 10 11 07 5q12-q14 EJM4 P Myoclonic epilepsy, juvenile, 4 611364 Fd max lod at D5S459 Myoclonic epilepsy, juvenile, 4 (2)
5.194 10 12 10 5q14.2-q14.3 VCAN, CSPG2, WGN, WGN1, ERVR C Versican (chondroitin sulfate proteoglycan-2) 118661 REa, A, H, Fd Wagner syndrome 1, 143200 (3) 13(Cspg2)
5.195 11 3 14 5q12.1 DEPDC1B P DEP domain-containing protein 1B 616073 REc
5.196 2 1 11 5q12.1 DIMT1L, DIM1, HUSSY5 P Dimethyladenosine transferase 1-like 612499 REc previously assigned to 8p12
5.197 1 30 12 5q12.1 ELOVL7 P Elongation of very long chain fatty acids-like 6 614451 REc
5.198 3 29 07 5q12.1 IPO11, RANBP11, SLRN P Importin 11 610889 REc
5.199 9 23 13 5q12.1 KIF2A, CDCBM3 P Kinesin, heavy chain, 2 602591 R Cortical dysplasia, complex, with other brain malformations 3, 615411 (3)
5.200 4 24 08 5q13.2 MRPS36 P Mitochondrial ribosomal protein S36 611996 REc 6 pseudogenes
5.201 4 6 18 5q12.1 NDUFAF2, NDUFA12L, MMTN, B17.2L P NADH dehydrogenase 1 alpha subcomplex, assembly factor 2 609653 REc pseudogene on chr.2 Mitochondrial complex I deficiency, 252010 (3)
5.202 2 16 18 5q12.1 ZSWIM6, KIAA1577, AFND, NEDMAGA C Zinc finger SWIM domain-containing protein 6 615951 Psh, REc Acromelic frontonasal dysostosis, 603671 (3); Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3)
5.203 2 28 03 5q13.2 BIRC1, NAIP C Baculoviral IAP repeat-containing 1 (neuronal apoptosis inhibitory protein) 600355 REn, H ?involved in SMA 13(Naip)
5.204 4 19 01 5q14.1 DMGDH, DMGDHD P Dimethylglycine dehydrogenase 605849 A Dimethylglycine dehydrogenase deficiency, 605850 (3)
5.205 4 21 97 5q13.2 GTF2H2 P General transcription factor IIH, polypeptide 2 (44kD subunit) 601748 REc 2 copies
5.206 9 28 00 5q13.2 SERF1A, H4F5, SMAM1 P Small EDRK-rich factor 1A 603011 REc, D 13(M4f5)
5.207 9 30 03 5q13.2 SMN1, SMA1, SMA2, SMA3, SMA4 C Survival of motor neuron 1, telomeric 600354 REn Spinal muscular atrophy-1, 253300 (3); Spinal muscular atrophy-2, 253550 (3); Spinal muscular atrophy-3, 253400 (3); Spinal muscular atrophy-4, 271150 (3) 13(Smn)
5.208 5 15 17 5q12.3 CWC27, SDCCAG10, RPSKA P CWC27 spliceosome-associated protein, X. cerevisiae, homolog of 617170 REc Retinitis pigmentosa with or without skeletal anomalies, 250410 (3)
5.209 10 13 09 5q12.3 NLN, KIAA1226, AGTBP P Neurolysin 611530 R, REc
5.210 3 29 07 5q12.3 RGS7BP, R7BP P Regulator of G protein signaling 7-binding protein 610890 REc 13(Rgs7bp)
5.211 7 14 14 5q12.3 TRIM23, ARD1 P Tripartite motif-containing protein 23 601747 REc
5.212 9 22 14 5q12.3 RNF180, RINES P RING finger protein 180 616015 REc
5.213 10 12 09 5q13.2 SMN2 P Survival of motor neuron 2, centromeric 601627 REn {Spinal muscular atrophy, type III, modifier of}, 253400 (3)
5.214 9 30 02 5q13.2 BDP1, TFNR P B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 607012 A
5.215 12 11 01 5q13.3 EFG2 P Elongation factor G2 606544 REc
5.216 9 20 00 5q13.3 ENC1, PIG10 P Ectodermal-neural cortex 1 605173 A 13(Enc1)
5.217 11 4 93 5q13.3 F2R, CF2R, PAR1 C Coagulation factor II (thrombin) receptor 187930 A, R, REc within 900kb of GPR11 13(Cf2r)
5.218 6 28 00 5q13.3 F2RL1, GPR11, PAR2 C Coagulation factor II, thrombin, receptor-like 1 (G protein-coupled receptor-11) 600933 A, R, REc within 900kb of F2R
5.219 8 24 98 5q13.3 F2RL2, PAR3 P Coagulation factor II receptor-like 2 (protease-activated receptor 3) 601919 REn order: PAR2-PAR1-PAR3
5.220 11 23 09 5q13.3 HEXB C Hexosaminidase B, beta polypeptide 606873 S, Ch, D Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) 13(Hex2)
5.221 3 22 93 5q13.2 MAP1B C Microtubule-associated protein-1B 157129 A, Fd
5.222 8 25 11 5q13.3 PDE8B, PPNAD3, ADSD C Phosphodiesterase 8B 603390 R, Fd Pigmented nodular adrenocortical disease, primary, 3, 614190 (3); Striatal degeneration, autosomal dominant, 609161 (3)
5.223 9 22 14 5q13.1 PIK3R1, GRB1, AGM7, SHORT, IMD36 P Phosphatidylinositol 3-kinase, regulatory, 1 171833 REa, A mutation identified in 1 AGM7 family ?Agammaglobulinemia 7, autosomal recessive, 615214 (3); SHORT syndrome, 269880 (3); Immunodeficiency 36, 616005 (3) 13(Pik3r1)
5.224 7 16 09 5q11.2 RAB3C P Ras-associated protein RAB3C 612829 REc
5.225 10 20 99 5q13.2 RAD17 C RAD17, S. pombe, homolog of 603139 A, H 13(Rad17)
5.226 12 11 02 5q14.1 RASGRF2 P Ras protein-specific guanine nucleotide-releasing factor 2 606614 A 13(Rasgrf2)
5.227 9 22 08 5q13 TSHQTL1 P Thyroid-stimulating hormone level QTL 1 612306 Fd associated with rs4704397 [Thyroid-stimulating hormone level QTL 1] (2)
5.228 7 12 02 5q13-q14 AAT2, FAA2 P Aortic aneurysm, familial thoracic 2 607087 Fd Aortic aneurysm, familial thoracic 2 (2)
5.229 9 3 15 5q14.2 XRCC4, SSMED C X-ray repair, complementing defective, repair in Chinese hamster cells-4 194363 S, REa, R between D5S427 and D5S401 Short stature, microcephaly, and endocrine dysfunction, 616541 (3)
5.230 4 24 02 5q13-q22 GINGF2, GGF2, HGF2 P Fibromatosis, gingival, 2 605544 Fd formerly GINGF2 used for a locus on 2p16-p13 Fibromatosis, gingival, 2 (2)
5.231 9 21 11 5q14.3 HAPLN1, CRTL1 P Hyaluronan and proteoglycan link protein 1 115435 A
5.232 9 5 91 5q21.3 RPS20A P Ribosomal protein S20A 180463 REa ?pseudogene
5.233 12 29 06 5q13.2 MARVELD2, MARVD2, TRIC, DFNB49 C Marvel domain-containing protein 2 (tricellulin) 610572 REc, Fd, REc Deafness, autosomal recessive 49, 610153 (3) 13(tric)
5.234 3 27 17 5q13.2 OCLN, BLCPMG, PTORCH1 C Occludin 602876 R, REc Pseudo-TORCH syndrome 1, 251290 (3)
5.235 2 20 01 5q13.3 POLK, POLQ, DINB1 P Polymerase, DNA, kappa 605650 REa, A
5.236 4 30 09 5q14.1 BHMT P Betaine-homocysteine methyltransferase 602888 REn
5.237 5 7 01 5q14.1 BHMT2 P Betaine-homocysteine methyltransferase 2 605932 A, R 13(Bhmt2)
5.238 5 5 15 5q13.2 CARTPT, CART P Cocaine- and amphetamine-regulated transcript prepropeptide 602606 REc mutation identified in 1 family {?Obesity, susceptibility to}, 601665 (3)
5.239 3 24 11 5q13.2 CCDC125, KENAE P Coiled-coil domain-containing protein 125 613781 REc
5.240 2 24 98 5q13.2 CDK7, STK1, CAK1 P Cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase) 601955 REa, REc previously mapped to 2p15-cen
5.241 4 10 14 5q13.2 CENPH P Centromeric protein H 605607 REc
5.242 9 7 10 5q13.2 FCHO2 P FCH domain-only protein 2 613438 REc
5.243 11 5 99 5q14.1 JMY P Junction-mediating and regulatory protein 604279 A
5.244 4 24 08 5q13.2 MRPS27, KIAA0264 P Mitochondrial ribosomal protein S27 611989 R, REc
5.245 11 10 13 5q13.2 PTCD2 P Pentatricopeptide repeat domain-containing protein 2 615484 REc
5.246 5 26 09 5q13.2 RGNEF, p190RHOGEF P Rgnef, mouse, homolog of 612790 REc
5.247 12 10 12 5q13.2 TMEM174 P Transmembrane protein 174 614909 REc
5.248 4 19 06 5q13.2 TNPO1, KPNB2, MIP1 P Transportin 1 602901 R
5.249 2 4 15 5q13.2 UTP15 P UTP15, U3 small nucleolar ribonucleoprotein, S. cerevisiae, homolog of 616194 REc
5.250 4 6 15 5q13.2 ZNF366, DCSCRIPT P Zinc finger protein 366 610159 REc
5.251 1 8 07 5q13.3 AGGF1, VG5Q, HUS84971, FLJ10283 P Angiogenic factor with G patch and FHA domains 1 608464 Ch
5.252 1 2 95 5q14.1 CKMT2 C Creatine kinase, mitochondrial-2 (sarcomeric) 123295 Psh, A
5.253 5 11 15 5q13.3 COL4A3BP, GPBP, CERT, MRD34 P COL4A3-binding protein (ceramide transporter) 604677 REc Mental retardation, autosomal dominant 34, 616351 (3)
5.254 5 22 14 5q13.3 FAM169A, SLAP75, KIAA0888 P Family with sequence similarity 169, member A 615769 REc
5.255 3 8 00 5q14.1 OTP C Orthopedia, Drosophila, homolog of 604529 R, A
5.256 10 29 09 5q14.3 RASA1, GAP, CMAVM, PKWS C RAS p21 protein activator 1 (GTPase activating protein) 139150 REa, A Parkes Weber syndrome, 608355 (3); Capillary malformation-arteriovenous malformation, 608354 (3); Basal cell carcinoma, somatic, 605462 (3) 13(Gap)
5.257 7 3 06 5q13.3 S100Z P S100 calcium-binding protein, zeta 610103 REc
5.258 12 4 02 5q14.1 SSBP2 P Single-stranded DNA-binding protein 2 607389 REc
5.259 8 3 12 5q13.3 SV2C P Synaptic vesicle glycoprotein 2C 610291 REc
5.260 12 22 08 5q13.3 TINP1, NSA2, HUSSY29 P Transforming growth factor-beta-inducible nuclear protein 1 612497 REc
5.261 5 30 17 5q13.3-q14.1 WDR41 P WD repeat-containing protein 41 617502 REc
5.262 5 31 13 5q13.3 ZBED3 P Zinc finger BED domain-containing protein 3 615250 REc
5.263 6 19 98 5q14.3 CCNH, CAK P Cyclin H 601953 REa, A, REc
5.264 5 18 09 5q13.3 HMGCR, LDLCQ3 C 3-hydroxy-3-methylglutaryl-Coenzyme A reductase; HMG CoA reductase 142910 REa, A [Statins, attenuated cholesterol lowering by] (3); [Low density lipoprotein cholesterol level QTL 3] (3) 13(Hmgcr)
5.265 5 13 02 5q14.1 SCAMP1, SCAMP37 P Secretory carrier membrane protein 1 606911 R
5.266 6 15 99 5q14.3 COX7C P Cytochrome C oxidase, subunit VII C 603774 A, R pseudogene on 13q14-q21
5.267 4 1 96 5q15 GLRX, GRX P Glutaredoxin (thioltransferase) 600443 REa, A
5.268 6 5 13 5q14 HBT P Telangiectasia, hereditary benign 187260 Fd max lod at D5S641 Telangiectasia, hereditary benign (2)
5.269 7 8 10 5q14.3 MEF2C, C5DELq14.3, DEL5q14.3 C MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C) 600662 A, REa Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3); Chromosome 5q14.3 deletion syndrome, 613443 (4) 13(mef2c)
5.270 7 7 14 5q15 NR2F1, TFCOUP1, ERBAL3, EAR3, BBSOAS P Nuclear receptor subfamily 2, group F, member 1 (transcription factor COUP 1) 132890 A Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 (3) 13(Tcfcoup1)
5.271 2 28 94 5q21.1 PAM P Peptidylglycine alpha-amidating monooxygenase 170270 REa, A 1(Pam)
5.272 10 28 11 5q14.1 ACOT12, CACH P Acyl-CoA thioesterase 12 614315 REc 13(Acot12)
5.273 5 31 05 5q14.1 AP3B1, ADTB3A, HPS2 P Adaptor-related protein complex 3, beta 1 subunit (adaptin, beta-3a) 603401 REc Hermansky-Pudlak syndrome 2, 608233 (3) 13(Ap3bi, pe)
5.274 12 28 08 5q14.1 LHFPL2, KIAA0206 C LHFP-like protein 2 609718 R, REc
5.275 7 27 11 5q14.1 PAPD4, GLD2 P Poly(A) polymerase-associated domain-containing protein 4 614121 REc
5.276 4 2 12 5q14.1 SERINC5, C5orf12, TPO1 P Serine incorporator 5 614551 REc
5.277 9 26 17 5q14.1 THBS4 P Thrombospondin IV 600715 REc
5.278 9 16 12 5q14.1 ZFYVE16, ENDOFIN, KIAA0305 P Zinc finger FYVE domain-containing protein 16 608880 REc
5.279 5 9 12 5q14.1-q21.3 KTCN5 P Keratoconus 5 614622 Fd between D5S2499 and D5S495 Keratoconus 5 (2)
5.280 3 8 07 5q14.1-q14.2 ATG10, APG10 P Autophagy 10, S. cerevisiae, homolog of 610800 R, REc
5.281 7 9 06 5q14.1 HOMER1, HOMER1B, HOMER1C, HOMER1A P Homer, homlog 1 (Drosophila) 604798 R
5.282 8 11 17 5q14.2 RPS23, BTDD, MCINS P Ribosomal protein S23 603683 Psh, R, REc Brachycephaly, trichomegaly, and developmental delay, 617412 (3)
5.283 4 2 16 5q14.2 SCARNA18 P Small cajal body-specific RNA 18 611329 REc in intron 1 of TMEM167
5.284 11 3 11 5q14.2 VUR4 P Vesicoureteral reflux 4 614317 Fd closest marker rs1501656 Vesicoureteral reflux 4 (2)
5.285 5 13 02 5q15 LNPEP P Leucyl-cystinyl aminopeptidase 151300 A
5.286 12 24 08 5q14.3 ARRDC3, TLIMP, KIAA1376 P Arrestin domain-containing 3 612464 REc
5.287 1 4 16 5q14.3 ADGRV1, GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C C Adhesion G protein-coupled receptor V1 602851 A, REc, R, Fd mutation identified in 1 FEB4 family ?Febrile seizures, familial, 4, 604352 (3); Usher syndrome, type 2C, 605472 (3); Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3) 13(Frings, mass1)
5.288 5 25 13 5q14.3 CETN3, CDC31 P Centrin 3 602907 REc
5.289 10 23 15 5q14.3 LINC00461, VISC P Long intergenic noncoding RNA 461 616611 REc
5.290 3 23 09 5q14.3 MIR9-2, MIRN9-2 P Micro RNA 9-2 611187 REc
5.291 5 6 03 5q15 RHOBTB3, KIAA0878 P Rho-related BTB domain-containing protein 3 607353 REc
5.292 10 31 13 5q14.3-q15 PVNH5 P Periventricular nodular heterotopia 5 612881 Ch deletion range 6.3-17Mb, common range 5.8Mb Periventricular nodular heterotopia 5 (4)
5.293 5 19 06 5q15 ARSK P Arylsulfatase K 610011 REc
5.294 6 10 08 5q15 ELL2 P Elongation factor, RNA polymerase II, 2 601874 R, REc
5.295 6 10 08 5q15 ERAP1, ALAP, ARTS1, PILSAP, KIAA0525 P Endoplasmic reticulum aminopeptidase 1 606832 REc
5.296 12 30 09 5q15 ERAP2, LRAP P Endoplasmic reticulum aminopeptidase 2 609497 REc
5.297 12 22 16 5q15 KIAA0825 P KIAA0825 gene 617266 REc
5.298 5 24 13 5q15 LIX1 P Limb expression 1, mouse, homolog of 610466 REc
5.299 4 7 15 5q15 MCTP1 P Multiple C2 domains-containing transmembrane protein 1 616296 REc
5.300 10 31 17 5q15 RIOK2, RIO2 P RIO kianse 2 617754 REc
5.301 4 27 12 5q15 TTC37, KIAA0372 P Tetratricopeptide repeat domain 37 614589 REc Trichohepatoenteric syndrome 1, 222470 (3)
5.302 4 7 15 5q15 CAST, PLACK P Calpastatin 114090 A, REb Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
5.303 9 21 17 5q15-q21 CHD1, PILBOS P Chromodomain helicase DNA binding protein-1 602118 REc Pilarowski-Bjornsson syndrome, 617682 (3)
5.304 10 29 08 5q15 PCSK1, NEC1, PC1, PC3, BMIQ12 P Proprotein convertase subtilisin/kexin type 1 162150 A Obesity with impaired prohormone processing, 600955 (3); {Obesity, susceptibility to, BMIQ12}, 612362 (3) 13(Nec1)
5.305 11 30 06 5q35.2 CPEB4, KIAA1673 P Cytoplasmic polyadenylation element-binding protein 4 610607 REa, REc
5.306 12 5 13 5q22.2 MCC C Mutated in colorectal cancers 159350 REn, D Colorectal cancer, somatic, 114500 (3) 18(Mcc)
5.307 9 14 05 5q21 MGR8 P Migraine, susceptibility to, 8 609570 Fd {Migraine, susceptibility to, 8} (2)
5.308 7 14 98 5q21.1 PST, PST1 P Polysialyltransferase 602547 A
5.309 1 24 06 5q22.2 DCP2 C Decapping enzyme 2, S. cerevisiae, homolog of 609844 REc
5.310 2 27 01 5q23.1 DMXL1 P DMX-like 1 605671 A, R
5.311 4 30 91 5q21.3 FER, TYK3 C fer (fps/fes related) tyrosine kinase 176942 REa, A 11(Fert)
5.312 10 26 97 5q21.3 MAN2A1, MANA2 P Mannosidase, alpha, class 2A, member 1 154582 REa, A
5.313 5 27 93 5q22.2 SRP19 C Signal recognition particle 19kD 182175 REn within 100kb of APC
5.314 12 4 90 5q22.1 CAMK4 P Ca(2+)-calmodulin-dependent protein kinase type IV of brain 114080 REa, A, H 18(Camk4)
5.315 10 23 15 5q21.1 C5orf30 P Chromosome 5 open reading frame 30 616608 REc
5.316 12 18 07 5q21.1 HISPPD1, PPIP5K2, VIP2, KIAA0433 P Histidine acid phosphatase domain-containing protein 1 611648 R, REc
5.317 3 31 09 5q15 RGMB, DRAGON P RGM domain family, member B 612687 R, REc
5.318 6 13 12 5q21.1 SLCO4C1, OATP4C1 P Solute carrier organic anion transporter family, member 4C1 609013 REc
5.319 4 20 10 5q21.1 SLCO6A1, GST P Solute carrier organic anion transporter family, member 6A1 613365 REc
5.320 8 9 01 5q22.3 KCNN2, SK2 P Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 2 605879 REc
5.321 9 26 17 5q21.3 EFNA5, EPLG7, LERK7 P Ephrin A5 601535 REc
5.322 9 9 08 5q21.3 FBXL17, FBL17, FBX13, FBXO13 P F-box and leucine-rich repeat protein 17 609083 REc 17(Fbxl17)
5.323 8 18 04 5q23.1 FTMT P Ferritin, mitochondrial 608847 REc
5.324 3 22 06 5q22.1 WDR36, TAWDRP, GLC1G P WD repeat-containing protein 36 609669 REc Glaucoma 1, open angle, G, 609887 (3)
5.325 11 17 14 5q21.3-q33.2 MDBS2 P Macular dystrophy, butterfly-shaped pigmentary, 2 608970 Fd between D5S433 and D5S410 Macular dystrophy, butterfly-shaped pigmentary, 2 (2)
5.326 7 8 10 5q22 EOE2 P Esophagitis, eosinophilic, 2 613412 Fd association with rs3806932 {Esophagitis, eosinophilic, 2} (2)
5.327 6 28 02 5q22.1 STARD4 P Start domain-containing protein 4 607049 REc
5.328 1 22 07 5q22.2 TSSK1, STK22D P Testis-specific serine/threonine kinase 1 610709 REc pseudogene on chr22 16(Tssk1)
5.329 7 10 08 5q22.1-q22.2 EPB41L4A, EPB41L4, NBL4 P Erythrocyte membrane protein band 4.1-like 4A 612141 A
5.330 9 28 96 5q22.2 ZRSR1, U2AF1RS1 P Zinc finger-, CCCH domain-, and RNA-binding motif-containing serine/arginine-rich protein 1 601079 A 11(U2af1rs1)
5.331 8 9 99 5q22.3 CDO1 P Cysteine dioxygenase, type 1 603943 Psh, A 18(Cdo1)
5.332 3 22 06 5q22.2 REEP5, D5S346, DP1, C5orf18 P Receptor expression-enhancing protein 5 125265 REn
5.333 8 31 09 5q22.1 C5orf13, P311, PTZ17 P P311 protein 607332 R, REc
5.334 9 9 08 5q22.1 TSLP P Thymic stromal lymphopoietin 607003 R 18(Tslp)
5.335 10 30 06 5q22.1-q32 GLC1M P Glaucoma 1, open angle, M 610535 Fd between D5S2051 and D5S2090 Glaucoma 1, open angle, M (2)
5.336 8 7 15 5q22.1 SLC25A46, HMSN6B P Solute carrier family 25, member 46 610826 REc Neuropathy, hereditary motor and sensory, type VIB, 616505 (3) 8(Slc25a46)
5.337 11 21 14 5q22.2 APC, GS, FPC, BTPS2 C Adenomatous polyposis coli 611731 D, Fd, REn 150kb distal to MCC Adenomatous polyposis coli, 175100 (3); Gastric cancer, somatic, 613659 (3); Adenoma, periampullary, somatic (3); Hepatoblastoma, somatic, 114550 (3); Desmoid disease, hereditary, 135290 (3); Colorectal cancer, somatic, 114500 (3); Brain tumor-polyposis syndrome 2, 175100 (3); Gardner syndrome, 175100 (3) 18(Min, Apc)
5.338 11 13 13 5q22.3 PGGT1B P Protein geranylgeranyltransferase type I, beta subunit 602031 REc
5.339 8 17 17 5q22.3 TRIM36, RBCC728, ANPH C Tripartite motif-containing protein 36 609317 R, REc mutation identified in 1 ANPH patient ?Anencephaly, 206500 (3)
5.340 12 22 17 5q35.3 ADAMTS2, NPI, EDSDERMS P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 2 (procollagen I N-proteinase) 604539 REa, H Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3) 11(Adamts2)
5.341 3 16 99 5q31.1 CAMLG P Calcium-modulating cyclophilin ligand 601118 A 13(Camlg)
5.342 10 28 99 5q23.2 CSNK1G3 P Casein kinase I, gamma-3 604253 R, A
5.343 5 19 06 5q31.3 HBEGF, DTR, DTSF, HEGFL C Heparin-binding EGF-like growth factor (diphtheria toxin receptor) 126150 S, M {Diphtheria, susceptibility to} (1) 18(Hegfl)
5.344 5 15 01 5q23.2 SNX2 P Sorting nexin 2 605929 R
5.345 12 4 14 5q23.3 FBN2, CCA, EOMD P Fibrillin-2 612570 Fd, A Contractural arachnodactyly, congenital, 121050 (3); Macular degeneration, early-onset, 616118 (3) 18(Fbn2)
5.346 9 13 11 5q11.2 ITGA2, CD49B, BR, BDPLT9 P Integrin, alpha-2 (CD49B; alpha-2 subunit of VLA-2 receptor; platelet antigen Br) 192974 S, Psh, A ?Glycoprotein Ia deficiency, 614200 (1)
5.347 11 29 00 5q31.1 NEUROG1, NEUROD3 P Neurogenin 1 601726 A 13(Neurod3)
5.348 6 15 99 5q31.2 NME5, NM23H5 P Nonmetastatic cells 5, protein expressed in (nonmetastatic protein 23, homolog 5) 603575 R
5.349 7 11 93 5q31.1 PPP2CA P Protein phosphatase-2 (formerly 2A), catalytic subunit, alpha isoform 176915 REa, A
5.350 10 28 96 5q31.1 UBE2B, RAD6B P Ubiquitin-conjugating enzyme E2B (RAD6 homolog) 179095 A ?Male infertility (1)
5.351 6 4 99 5q31.2 NRG2 P Neuregulin 2 603818 R, REc
5.352 8 18 98 5q33.3 FABP6, ILLBP P Fatty acid-binding protein 6, ileal (gastrotropin) 600422 H, REa 11(Illbp)
5.353 5 5 09 5q23-q35 SCZD1 P Schizophrenia susceptibility locus, chromosome 5-related 181510 Fd max lod at D5S820 {Schizophrenia}, 181500 (2)
5.354 2 1 11 5q22.3-q23.1 AP3S1, CLAPS3 P Adaptor-related protein complex 3, sigma 1 subunit 601507 REc previously assigned to chr. 12 by FISH
5.355 12 22 15 5q23.1 COMMD10 P COMM domain-containing protein 10 616704 REc
5.356 5 8 13 5q23.1 HSD17B4, PRLTS1 P Hydroxysteroid (17-beta) dehydrogenase 4 601860 A D-bifunctional protein deficiency, 261515 (3); Perrault syndrome 1, 233400 (3)
5.357 6 9 06 5q23.1 LVRN P Laeverin 610046 R, REc
5.358 8 18 14 5q23.1 PRR16, LARGEN P Proline-rich protein 16 615931 REc
5.359 4 21 15 5q23.1 SEMA6A P Semaphorin 6A 605885 REc
5.360 3 14 07 5q23.1 SRFBP1, P49 P Serum response factor binding protein 1 610479 R, REc
5.361 12 8 03 5q22.3 TIRP, TRAM P Toll/interleukin-1 receptor domain-containing protein 608321 REc
5.362 6 30 08 5q23.1 TNFAIP8, SCCS2 P Tumor necrosis factor-alpha-induced protein 8 612111 R, REc
5.363 3 15 10 5q23.2 SNCAIP C Synuclein-alpha-interacting protein (synphilin 1) 603779 R
5.364 11 7 17 5q23.2 CEP120, CCDC100, SRTD13, JBTS31 P Centrosomal protein, 120kD 613446 REc Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3); Joubert syndrome 31, 617761 (3)
5.365 11 11 13 5q23.2 LMNB1, ADLD C Lamin B1 150340 H, A, Fd, REc Leukodystrophy, adult-onset, autosomal dominant, 169500 (3) 18(Lmnb)
5.366 6 7 10 5q23.2 MARCH3 P Membrane-associated RING-CH finger protein 3 613333 REc
5.367 5 4 12 5q23.2 MEGF10, KIAA1780, EMARDD P Multiple epidermal growth factor-like domains 10 612453 REc Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3); Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)
5.368 8 31 09 5q23.2 PPIC P Peptidyl-prolyl isomerase C 123842 R, REc
5.369 7 22 16 5q23.2 PRDM6, PRISM, PDA3 P PR domain-containing protein 6 616982 REc Patent ductus arteriosus 3, 617039 (3)
5.370 3 31 15 5q23.2 RNUXA, PHAX P RNA, U small nuclear, export adaptor 604924 REc
5.371 11 30 06 5q31.1 FNIP1, KIAA1961 P Folliculin-interacting protein 1 610594 REc
5.372 3 3 16 5q23.3-q31.1 LYRM7, MZM1L, MC3DN8 P LYR motif-containing protein 7 615831 REc Mitochondrial complex III deficiency, nuclear type 8, 615838 (3)
5.373 11 20 95 5q23.3 SLC12A2, NKCC1 P Solute carrier family 12 (sodium/potassium/chloride transporters), member 2 600840 A
5.374 2 27 01 5q31.3 RNF14, ARA54 P RING finger protein-14 605675 REa, R
5.375 10 25 16 5q23.1 LOX, AAT10 C Lysyl oxidase 153455 REa, A Aortic aneurysm, familial thoracic 10, 617168 (3) 18(Lox)
5.376 9 18 08 5q31.1 ACSL6, FACL6, ACS2 P Acyl-CoA synthetase long-chain family member 6 604443 Ch Myelodysplastic syndrome (3); Myelogenous leukemia, acute (3)
5.377 8 31 12 5q23.3 ADAMTS19 P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 19 607513 REc
5.378 5 19 15 5q31.1 AFF4, AF5Q31, CHOPS P AF4/FMR2 family, member 4 604417 Ch CHOPS syndrome, 616368 (3)
5.379 3 26 07 5q23.2 ALDH7A1, ATQ1, EPD, PDE C Aldehyde dehydrogenase 7 family, member A1 (antiquitin 1) 107323 A, Fd Epilepsy, pyridoxine-dependent, 266100 (3) 18(Atq1)
5.380 8 31 09 5q31.3 APBB3, FE65L2 P Amyloid beta (A4) precursor protein-binding, family B, member 3 602711 R, REc
5.381 8 27 15 5q31.3 ARHGAP26, GRAF C RHO GTPase-activating protein 26 605370 Ch, A Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
5.382 3 22 93 5q31.2 CDC25C C Cell division cycle 25C 157680 A, REn
5.383 2 16 04 5q31.1 CDKL3, NKIAMRE P Cyclin-dependent kinase-like 3 608459 A
5.384 4 13 10 5q23.3 CHSY3, CSS3 P Chondroitin sulfate synthase 3 609963 REc
5.385 4 8 16 5q31.2 CTNNA1, MDPT2 C Catenin (cadherin-associated protein), alpha 1, 102kD 116805 A, REa Macular dystrophy, patterned, 2, 608970 (3) 18(Catna1)
5.386 8 28 02 5q31.1 CXCL14, SCYB14, BRAK P Chemokine, C-X-C motif, ligand 14 604186 REc
5.387 11 13 15 5q31.3 DIAPH1, DFNA1, LFHL1, SCBMS C Diaphanous, Drosophila, homolog of, 1 602121 Fd, REc Deafness, autosomal dominant 1, 124900 (3); Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
5.388 2 20 14 5q31 DFNA54 P Deafness, autosomal dominant 54 615649 Fd between D5S1972 and D5S410 Deafness, autosomal dominant 54 (2)
5.389 4 29 14 5q31.2 ECSCR, ECSM2, ARIA P Endothelial cell surface-expressed chemotaxis and apoptosis regulator 615736 A, REc
5.390 6 10 94 5q31.3 FGF1, FGFA C Fibroblast growth factor-1 (acidic) 131220 REa, A, D
5.391 3 2 01 5q31.2 GFRA3 C GDNF family receptor alpha-3 605710 A
5.392 2 19 10 5q31.3 GNPDA1, GNP1, GNPI, KIAA0060 P Glucosamine 6-phosphate deaminase 1 601798 A
5.393 8 15 00 5q31.3 HDAC3 C Histone deacetylase 3 605166 A
5.394 10 11 05 5q31.2 HNRPA0 P Heterogeneous nuclear ribonucleoprotein A0 609409 REc
5.395 1 31 02 5q31 IBD5 C Inflammatory bowel disease 5 606348 Fd {Inflammatory bowel disease 5} (2)
5.396 10 30 03 5q31.1 IL13, ALRH, BHR1 C Interleukin-13 147683 REn, Fd {Asthma, susceptibility to}, 600807 (3); {Allergic rhinitis, susceptibility to}, 607154 (3)
5.397 10 24 11 5q31.2 KDM3B, C5orf7, KIAA1082, JMJD1B C Lysine-specific demethylase 3B 609373 R, REc
5.398 12 29 00 5q31.1 KIF3A P Kinesin family member 3A 604683 R
5.399 3 12 03 5q31.2 KIF20A, RAB6KIFL P Kinesin family member 20A 605664 REc
5.400 2 27 12 5q31.2 KLHL3, PHA2D P Kelch-like 3 605775 REc Pseudohypoaldosteronism, type IID, 614495 (3)
5.401 10 14 98 5q31.1 MADH5, SMAD5 P Mothers against decapentaplegic, Drosophila, homolog of, 5 603110 REa, REc
5.402 7 17 14 5q35.1 NEURL1B, NEUR2 P Neuralized E3 ubiquitin protein ligase 1B 615893 REc 17(Neurl1b)
5.403 1 31 07 5q33.1 MYOZ3, FRP3 P Myozenin 3 610735 REc
5.404 2 18 98 5q31.2 NPY6R, PP2 C Neuropeptide Y receptor Y6 601770 A, H ?nonfunctional pseudogene 18(Npy6r)
5.405 9 5 14 5q31.3 NR3C1, GCR, GRL, GCRST C Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 138040 S, REa, Fd, H, A, D, REn Glucocorticoid resistance, 615962 (3) 18(Grl1)
5.406 12 6 16 5q31.1 P4HA2, MYP25 P Procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit, isoform 2 600608 REc Myopia 25, autosomal dominant, 617238 (3)
5.407 10 10 17 5q31.3 PCDH12, VECAD2, PCDH12 P Protocadherin 12 (cadherin, vascular endothelial, 2) 605622 REc Microcephaly, seizures, spasticity, and brain calcification, 605622 (3)
5.408 5 24 00 5q31 PCDHA@ P Protocadherin-alpha gene cluster 604966 REc
5.409 10 2 01 5q31.3 PCDHA1 P Protocadherin-alpha 1 606307 REc
5.410 10 2 01 5q31.3 PCDHA2 P Protocadherin-alpha 2 606308 REc
5.411 10 1 01 5q31.3 PCDHA3 P Protocadherin-alpha 3 606309 REc
5.412 10 2 01 5q31.3 PCDHA4 P Protocadherin-alpha 4 606310 REc
5.413 10 2 01 5q31.3 PCDHA5 P Protocadherin-alpha 5 606311 REc
5.414 10 2 01 5q31.3 PCDHA6 P Protocadherin-alpha 6 606312 REc
5.415 10 2 01 5q31.3 PCDHA7 P Protocadherin-alpha 7 606313 REc
5.416 10 2 01 5q31.3 PCDHA8 P Protocadherin-alpha 8 606314 REc
5.417 10 2 01 5q31.3 PCDHA9 P Protocadherin-alpha 9 606315 REc
5.418 10 2 01 5q31.3 PCDHA10 P Protocadherin-alpha 10 606316 REc
5.419 10 2 01 5q31.3 PCDHA11 P Protocadherin-alpha 11 606317 REc
5.420 10 2 01 5q31.3 PCDHA12 P Protocadherin-alpha 12 606318 REc
5.421 10 2 01 5q31.3 PCDHA13 P Protocadherin-alpha 13 606319 REc
5.422 10 2 01 5q31.3 PCDHAC1 P Protocadherin-alpha, subfamily C, member 1 606320 REc
5.423 10 2 01 5q31.3 PCDHAC2 P Protocadherin-alpha, subfamily C, member 2 606321 REc
5.424 5 24 00 5q31 PCDHB@ P Protocadherin-beta gene cluster 604967 REc
5.425 10 2 01 5q31.3 PCDHB1 P Protocadherin-beta 1 606327 REc
5.426 10 2 01 5q31.3 PCDHB2 P Protocadherin-beta 2 606328 REc
5.427 10 2 01 5q31.3 PCDHB3 P Protocadherin-beta 3 606329 REc
5.428 10 2 01 5q31.3 PCDHB4 P Protocadherin-beta 4 606330 REc
5.429 10 2 01 5q31.3 PCDHB5 P Protocadherin-beta 5 606331 REc
5.430 10 2 01 5q31.3 PCDHB6 P Protocadherin-beta 6 606332 REc
5.431 9 13 17 6p21.1 OARD1, C6orf130 P O-acyl-ADP-ribose deacylase 1 614393 REc
5.432 10 2 01 5q31.3 PCDHB7 P Protocadherin-beta 7 606333 REc
5.433 10 2 01 5q31.3 PCDHB8 P Protocadherin-beta 8 606334 REc
5.434 10 2 01 5q31.3 PCDHB9 P Protocadherin-beta 9 606335 REc
5.435 10 2 01 5q31.3 PCHB10 P Protocadherin-beta 10 606336 REc
5.436 10 2 01 5q31.3 PCDHB11 P Protocadherin-beta 11 606337 REc
5.437 10 2 01 5q31.3 PCDHB12 P Protocadherin-beta 12 606338 REc
5.438 10 2 01 5q31.3 PCDHB13 P Protocadherin-beta 13 606339 REc
5.439 10 2 01 5q31.3 PCDHB14 P Protocadherin-beta 14 606340 REc
5.440 10 2 01 5q31.3 PCDHB15 P Protocadherin-beta 15 606341 REc
5.441 10 2 01 5q31.3 PCDHB16 P Protocadherin-beta 16 606345 REc
5.442 5 24 00 5q31 PCDHG P Protocadherin-gamma gene cluster 604968 REc
5.443 10 2 01 5q31.3 PCDHGA1 P Protocadherin-gamma, subfamily A, member 1 606288 REc
5.444 10 2 01 5q31.3 PCDHGA2 P Protocadherin-gamma, subfamily A, member 2 606289 REc
5.445 10 2 01 5q31.3 PCDHGA3 P Protocadherin-gamma, subfamily A, member 3 606290 REc
5.446 10 2 01 5q31.3 PCDHGA4 P Protocadherin-gamma, subfamily A, member 4 606291 REc
5.447 10 2 01 5q31.3 PCDHGA5 P Protocadherin-gamma, subfamily A, member 5 606292 REc
5.448 10 2 01 5q31.3 PCDHGA6 P Protocadherin-gamma, subfamily A, member 6 606293 REc
5.449 10 2 01 5q31.3 PCDHGA7 P Protocadherin-gamma, subfamily A, member 7 606294 REc
5.450 10 2 01 5q31.3 PCDHGA8 P Protocadherin-gamma, subfamily A, member 8 606295 REc
5.451 10 2 01 5q31.3 PCDHGA9 P Protocadherin-gamma, subfamily A, member 9 606296 REc
5.452 10 2 01 5q31.3 PCDHGA10 P Protocadherin-gamma, subfamily A, member 10 606297 REc
5.453 10 2 01 5q31.3 PCDHGA11 P Protocadherin-gamma, subfamily A, member 11 606298 REc
5.454 10 2 01 5q31.3 PCDHGA12 P Protocadherin-gamma, subfamily A, member 12 603059 REc
5.455 10 2 01 5q31.3 PCDHGB1 P Protocadherin-gamma, subfamily B, member 1 606299 REc
5.456 10 2 01 5q31.3 PCDHGB2 P Protocadherin-gamma, subfamily B, member 2 606300 REc
5.457 10 2 01 5q31.3 PCDHGB3 P Protocadherin-gamma, subfamily B, member 3 606301 REc
5.458 10 2 01 5q31.3 PCDHGB4 P Protocadherin-gamma, subfamily B, member 4 603058 REc
5.459 10 2 01 5q31.3 PCDHGB5 P Protocadherin-gamma, subfamily B, member 5 606302 REc
5.460 10 2 01 5q31.3 PCDHGB6 P Protocadherin-gamma, subfamily B, member 6 606303 REc
5.461 10 2 01 5q31.3 PCDHGB7 P Protocadherin-gamma, subfamily B, member 7 606304 REc
5.462 10 2 01 5q31.3 PCDHGC3 P Protocadherin-gamma, subfamily C, member 3 603627 REc
5.463 10 2 01 5q31.3 PCDHGC4 P Protocadherin-gamma, subfamily C, member 4 606305 REc
5.464 10 2 01 5q31.3 PCDHGC5 P Protocadherin-gamma, subfamily C, member 5 606306 REc
5.465 6 30 15 5q31 PDB4 P Paget disease of bone 4 606263 Fd Paget disease of bone 4 (2)
5.466 7 9 06 5q31.3 PFDN1 P Prefoldin 1 604897 R, REc
5.467 11 1 12 5q31.1 PITX1, PTX1, BFT, POTX, CCF, LBNBG P Paired-like homeodomain transcription factor-1 602149 A Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3); Liebenberg syndrome, 186550 (4) 13(Ptx1)
5.468 5 4 00 5q31.2 PKD2L2 P Polycystin 2-like 2 604669 R, Psh
5.469 7 13 98 5q32 POU4F3, BRN3C C POU domain, class 4, transcription factor-3 602460 REa, H Deafness, autosomal dominant 15, 602459 (3) 18(pou4f3)
5.470 1 5 15 5q31.3 PURA, PUR1, MRD31 P Purine-rich element binding protein A 600473 REa, A Mental retardation, autosomal dominant 31, 616158 (3)
5.471 10 12 09 5q31.1 RAD50, NBSLD P RAD50, S. cerevisiae, homolog of 604040 REc, REa Nijmegen breakage syndrome-like disorder, 613078 (3)
5.472 2 10 14 5q31.2 REEP2, C5orf19, SPG72 P Receptor expression-enhancing protein 2 609347 R, REc mutation identified in 1 family each SPG72 AR and AD ?Spastic paraplegia 72, autosomal recessive, 615625 (3); ?Spastic paraplegia 72, autosomal dominant, 615625 (3)
5.473 5 6 13 5q31 RLS8 P Restless legs syndrome, susceptibility to, 8 615197 Fd {Restless legs syndrome 8} (2)
5.474 12 7 05 5q31.2 SIL1, BAP, MSS C Sil1, S. cerevisiae, homolog of 608005 R, REc, Fd Marinesco-Sjogren syndrome, 248800 (3)
5.475 7 7 14 5q31.1 SKP1, SKP1A, TCEB1L, OCP2 C S-phase kinase-associated protein 1 (p19A) 601434 A pseudogene on chr.7
5.476 4 7 09 5q31.1 SLC22A4, OCTN1 P Solute carrier family 22 (organic cation transporter), member 4 604190 R {Rheumatoid arthritis, susceptibility to}, 180300 (3)
5.477 10 30 03 5q31.3 SLC25A2, ORNT2 P Solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 2 608157 R
5.478 8 9 99 5q31.2 SPOCK P Testican 602264 A, REc previously mapped to chr.21
5.479 12 4 01 5q31.3 TAF7, TAF2F, TAFII55 P TAF7 RNA polymerase II, TATA box-binding protein-associated factor, 55kD 600573 REc 18(Taf2f)
5.480 1 30 02 5q32 TCERG1, TAF2S, CA150 P Transcription elongation regulator 1 (transcription factor CA150) 605409 R 18(Ca150)
5.481 1 19 07 5q31.1 TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD C Transforming growth factor, beta-induced, 68kD 601692 REc, Fd Corneal dystrophy, Groenouw type I, 121900 (3); Corneal dystrophy, lattice type I, 122200 (3); Corneal dystrophy, Reis-Bucklers type, 608470 (3); Corneal dystrophy, Avellino type, 607541 (3); Corneal dystrophy, lattice type IIIA, 608471 (3); Corneal dystrophy, Thiel-Behnke type, 602082 (3); Corneal dystrophy, epithelial basement membrane, 121820 (3)
5.482 8 6 13 5q31.2 MYOT, TTOD, MFM3 C Myotilin (titin immunoglobulin domain protein) 604103 R Muscular dystrophy, limb-girdle, type 1A, 159000 (3); Myopathy, myofibrillar, 3, 609200 (3); Myopathy, spheroid body, 182920 (3)
5.483 2 4 00 5q31.1 VDAC1 P Voltage-dependent anion channel 1 604492 A 11(Vdac1)
5.484 4 1 09 5q31.3 VTRNA1-1, HVG1, VAULTRC1 P Vault RNA 1-1 612695 REc
5.485 3 31 09 5q31.3 VTRNA1-2, HVG2, VAULTRC2 P Vault RNA 1-2 612696 REc
5.486 4 1 09 5q31.3 VTRNA1-3, HVG3, VAULTRC3 P Vault RNA 1-3 612697 REc
5.487 12 17 12 5q31.1 VTRNA2-1, NC886, CBL3, VTRNA2 P Vault RNA 2-1 614938 REn
5.488 8 28 01 5q32 SLC6A7, PROT P Solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 606205 REa, A 18(Slc6a7)
5.489 10 30 03 5q31-q33 AITD2 P Autoimmune thyroid disease, susceptibility to, 2 608174 Fd {Autoimmune thyroid disease, susceptibility to, 2} (2)
5.490 10 12 09 5q31-q33 ATOD6 P Dermatitis, atopic, 6 605845 Fd between D5S436 and D5S643 {Dermatitis, atopic, susceptibility to, 6} (2)
5.491 9 14 95 5q32 CDX1 C Caudal type homeo box transcription factor 1 600746 REc, H, REn 100kb distal to CSF1R 18(Cdx1)
5.492 3 17 06 5q31-q33 CELIAC2 P Celiac disease, susceptibility to, 2 609754 Fd {Celiac disease, susceptibility to, 2} (2)
5.493 9 9 08 5q33.2 CNOT8, CALIF, POP2 P CCR4-NOT transcription complex, subunit 8 603731 REc
5.494 10 26 97 5q31-q33 EOS P Eosinophilia, familial 131400 Fd Eosinophilia, familial (2)
5.495 6 9 98 5q32 HTR4 P 5-hydroxytryptamine (serotonin) receptor-4 602164 A
5.496 1 25 05 5q31-q33 PFBI C Plasmodium falciparum blood infection levels 248310 Fd {Malaria, intensity of infection} (2)
5.497 12 29 99 5q32 PPP2R2B P Protein phosphatase 2, regulatory subunit B, beta 604325 R, REc Spinocerebellar ataxia 12, 604326 (3)
5.498 7 22 09 5q31.1 SEPT8, KIAA0202 P Septin 8 608418 REc 11(Sept8)
5.499 10 11 02 5q33.1 SLC36A1, LYAAT1, PAT1 P Solute carrier family 36 (proton/amino acid symporter), member 1 (lysosomal amino acid transporter 1) 606561 REc
5.500 9 30 99 5q31-q33 SM1 C Schistosoma mansoni infection, susceptibility/resistance to 181460 Fd {Schistosoma mansoni infection, susceptibility/resistance to} (2)
5.501 4 4 02 5q32 SCGB3A2, UGRP1 P Secretoglobin, family 3A, member 2 (uteroglobin-related protein 1) 606531 H, A {Asthma, susceptibility to}, 600807 (3) 18(Ugrp1)
5.502 11 15 05 5q31.1 C5orf20, DCNP1 P Dendritic cell nuclear protein 1 609710 REc
5.503 3 28 11 5q31.1 CATSPER3, CACRC P Cation channel, sperm-associated, 3 609120 REc 13(Catsper3)
5.504 7 11 93 5q31.3 CD14 C CD14 antigen 158120 REa, A 18(Cd14)
5.505 6 15 99 5q31.2 CDC23, APC8 P Cell division cycle 23 (anaphase-promoting complex 8) 603462 REc, A
5.506 7 11 93 5q31.1 CSF2, GMCSF C Colony-stimulating factor-2 (granulocyte-macrophage) 138960 REa, A, RE, Fd order: cen-CSF2-CSF1-FMS-qter 11(Csfgm)
5.507 1 24 18 5q31.1 DDX46, PRP5, KIAA0801 C DEAD box helicase 46 617848 R, REc
5.508 7 11 93 5q31.2 EGR1 C Early growth response-1 128990 REa, A 18(Egr1)
5.509 10 24 00 5q31.2 ETF1, RF1, ERF1 P Eukaryotic translation termination factor-1 600285 R
5.510 6 13 12 5q31.1 FBXL21, FBL21, FBXL3B, FBL3B P F-box and leucine-rich repeat protein 21 609087 REc
5.511 4 29 14 5q31.1 GDF9 P Growth/differentiation factor 9 601918 REc
5.512 7 26 95 5q31.1 IGES P Immunoglobulin E concentration, serum 147061 Fd {?Allergy and asthma susceptibility} (2)
5.513 7 11 93 5q31.1 IL3 C Interleukin-3 147740 REa, A, H, RE, D, Fd 9kb from CSF2; order: cen-5'IL3-5'CF2-qter 11(Il3)
5.514 7 11 93 5q31.1 IL4 C Interleukin-4 147780 REa, A, RE 11(Il4)
5.515 3 22 93 5q31.1 IL5 C Interleukin-5 147850 Ch, A, RE, REn < 310kb from IL4 11(Il5)
5.516 7 11 93 5q31.1 IL9 C Interleukin-9 146931 REa, A 13(Il9)
5.517 5 13 10 5q31.1 IRF1, MAR C Interferon regulatory factor-1 147575 Fd, REa, A, REn, D, Ch Myelodysplastic syndrome, preleukemic (3); Myelogenous leukemia, acute (3); Gastric cancer, somatic, 613659 (3); Nonsmall cell lung cancer, somatic, 211980 (3) 11(Irf1)
5.518 4 6 15 5q31.1 LEAP2 P Liver-expressed antimicrobial peptide 2 611373 REc, R, H 11(Leap2)
5.519 2 24 15 5q31.1 MEIKIN P Meiotic kinetochore factor 616232 REc
5.520 5 26 13 5q31.1 PHF15, JADE2, KIAA0239 P PHD finger protein 15 610515 R, Psh, REc 11(Phf15)
5.521 3 14 07 5q31.1 RAPGEF6, RAGEF2, PDZGEF2 P RAP guanine nucleotide exchange factor 6 610499 REc
5.522 9 2 03 5q31.1 RIL P LIM domain protein ril 603422 REc {Osteoporosis, susceptibility to}, 166710 (3)
5.523 4 2 09 5q31.1 SAR1B, CMRD, SARA2, ANDD P Sar1a, S. cerevisiae, homolog 2 607690 REc Chylomicron retention disease, 246700 (3)
5.524 3 13 15 5q31.1 SEC24A P Sec24-related gene family, member A 607183 R, REc
5.525 5 23 13 5q31.1 SHROOM1, APXL2, KIAA1960 P SHROOM family member 1 611179 REc
5.526 10 27 04 5q31.1 SLC22A5, OCTN2, CDSP, SCD C Solute carrier, family 22 (organic cation transporter), member 5 603377 Fd, H Carnitine deficiency, systemic primary, 212140 (3) 11(jvs)
5.527 12 30 14 5q31.1 SLC25A48 P Solute carrier family 25, member 48 616150 REc
5.528 9 5 91 5q31.1 TCF7 P Transcription factor-7, T-cell specific 189908 REa, A originally called TCF-1 11(Tcf7)
5.529 11 16 17 5q31.1 TXNDC15, C5orf14, BUG P Thioredoxin domain-containing protein 15 617778 REc
5.530 4 8 13 5q31.1 UQCRQ, QPC, MC3DN4 P Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kD 612080 R, REc Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
5.531 4 23 15 5q31.1 WSPAR, lncTCF7 P WNT signaling pathway activating noncoding RNA 616333 REc
5.532 3 26 96 5q31.1 HSPA4 P Heat-shock 70kD protein-4 601113 A
5.533 2 9 14 5q31.1-q32 DFNA52, DFNA42 P Deafness, autosomal dominant 52 607683 Fd max lod at D5S2017 Deafness, autosomal dominant 52 (2)
5.534 10 14 98 5q31.1 LECT2 P Leukocyte cell-derived chemotaxin 2 602882 A, REa 13(Lect2)
5.535 1 31 01 5q31.1-q33.1 IDDM18 P Insulin-dependent diabetes mellitus-18 605598 Fd close to IL12B {Diabetes mellitus, insulin-dependent, 18} (2)
5.536 2 26 09 5q31.1-q33.1 PSORS11 P Psoriasis susceptibility 11 612599 Fd associated with rs10045431 {Psoriasis susceptibility 11} (2)
5.537 4 7 94 5q34 GABRA6 C Gamma-aminobutyric acid (GABA) A receptor, alpha-6 137143 REa, Fd, REc
5.538 9 27 17 5q31.2 BRD8, SMAP P Bromodomain-containing protein 8 602848 REc
5.539 12 6 16 5q31.2 FAM53C, C5orf6 P Family with sequence similarity 53, member C 609372 REc
5.540 12 6 16 5q31.2 FAM13B, C5orf5 P Family with sequence similarity 13, member B 609371 REc 18(C5orf5)
5.541 3 17 16 5q31.2 HSPA9, HSPA9B, MOT2, GRP75, EVPLS, SIDBA4 P Heat-shock 70kD protein-9 (mortalin) 600548 A, REc Anemia, sideroblastic, 4, 182170 (3); Even-plus syndrome, 616854 (3) 18,X(mot2)
5.542 4 29 14 5q31.2 MATR3, MPD2, ALS21 P Matrin 3 164015 R, REc Amyotrophic lateral sclerosis 21, 606070 (3)
5.543 9 23 08 5q31.3 NDUFA2 C NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8) 602137 A, R Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
5.544 10 17 12 5q23.3 HINT1, PRKCNH1, NMAN P Histidine triad nucleotide-binding protein 1 (protein kinase C inhibitor 1) 601314 A Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)
5.545 3 26 07 5q31.2 LRRTM2, KIAA0416 P Leucine-rich repeat transmembrane protein 2 610868 REc, H 18(Lrrtm2)
5.546 4 29 14 5q31.2 MZB1, PACAP, MGC29506 P Marginal zone B and B1 cell-specific protein 609447 REc
5.547 8 20 07 5q31.2 PAIP2, PAIP2A P Polyadenylate-binding protein-interacting protein 2 605604 R, REc
5.548 1 20 06 5q31.1 PCBD2, DCOH2, DCOHM P Pterin-4-alpha-carbinolamine dehydratase 2 609836 REc
5.549 3 23 09 5q31.1 TIFAB P TRAF-interacting protein with forkhead-associated domain, family member B 612663 REc 13(Tifab)
5.550 8 12 14 5q31.2 TMEM173, STING, MPYS, SAVI P Transmembrane protein 173 612374 REc STING-associated vasculopathy, infantile-onset, 615934 (3)
5.551 6 13 12 5q31.2 UBE2D2, UBCH5B, UBC4 P Ubiquitin-conjugating enzyme E2D 2 602962 REc
5.552 8 20 14 5q31.2 WNT8A P Wingless-type MMTV integration site family, member 8A 606360 REc
5.553 8 31 09 5q31.2 SLC23A1, SVCT1 C Solute carrier family 23 (nucleobase transporter), member 1 (sodium-dependent vitamin C transporter 1) 603790 R, REn, H opposite orientation to MATR3 18(Slc23a1)
5.554 4 15 11 5q32 PDE6A, PDEA, RP43 C Phosphodiesterase-6A, cGMP-specific, rod, alpha 180071 REa, REn, A Retinitis pigmentosa 43, 613810 (3) 18(Pde6a)
5.555 10 30 06 5q31.3 ANKHD1, MASK, KIAA1085, VBARP P Ankyrin repeat and KH domain-containing protein 1 610500 REc
5.556 2 24 17 5q31.3 ARAP3, CENTD3 P ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 606647 R, REc
5.557 5 12 09 5q31.2 CXXC5 P CXXC finger protein 5 612752 REc
5.558 5 25 05 5q31.3 DND1 P Dead end, zebrafish, homolog of, 1 609385 REc
5.559 7 6 17 5q31.3 FCHSD1, NWK2 P FCH and double SH3 domains protein 1 617555 REc, H 18(Fchsd1)
5.560 11 3 15 5q31.3 HARS, USH3B, CMT2W P Histidyl-tRNA synthetase 142810 S, REc Usher syndrome type 3B, 614504 (3); Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3)
5.561 11 29 12 5q31.3 HARS2, HARSL, HARSR, HO3, PRLTS2 P Histidyl-tRNA synthetase 2 600783 REc mutation identified in 1 PRLTS2 family ?Perrault syndrome 2, 614926 (3)
5.562 4 20 11 5q31.3 IK, RED P IK cytokine, downregulator of HLA II 600549 R, REc
5.563 7 26 10 5q31.3 KCTD16, KIAA1317 P Potassium channel tetramerization domain-containing 16 613423 R, REc
5.564 4 29 14 5q31.3 KIAA0141, DELE P KIAA0141 gene 615741 REc
5.565 6 10 08 5q31.3 NDFIP1, N4WBP5 P NEDD4 family-interacting protein 1 612050 REc
5.566 2 16 18 5q13.3 POC5, C5orf37 P POC5 centriolar protein 617880 REc
5.567 5 26 13 5q31.3 RELL2 P Relt-like 2 611213 REc
5.568 6 11 13 5q31.3 SPRY4, HH17 P Sprouty, Drosophila, homolog of 607984 A Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3)
5.569 8 11 17 5q31.3 SPRY4IT1 P SPRY4 intronic transcript 1, noncoding 617617 REc in intron 2 of SPRY4
5.570 8 31 09 5q31.3 SRA1 P Steroid receptor RNA activator 1 603819 REc
5.571 10 25 12 5q31.1 H2AFY, MH2A1 P H2A histone family, member Y 610054 R
5.572 12 22 10 5q31.3-q32 HHT3, ORW3 P Hereditary hemorrhagic telangiectasia, type 3 601101 Fd Telangiectasia, hereditary hemorrhagic, type 3 (2)
5.573 8 6 15 5q33.1 SPARC, ON, OI17 C Osteonectin (secreted protein, acidic, cysteine-rich) 182120 REa, A Osteogenesis imperfecta, type XVII, 616507 (3) 11(Sparc)
5.574 11 23 09 5q33.1 GM2A C GM2 ganglioside activator protein 613109 S, REa, Psh, A pseudogene on chr.3 GM2-gangliosidosis, AB variant, 272750 (3) 11(Gm2a)
5.575 4 2 16 5q32 ABLIM3, KIAA0843 C Actin-binding LIM protein family, member 3 611305 R, REc
5.576 5 19 06 5q32 ARSI P Arylsulfatase I 610009 REc
5.577 3 1 00 5q33.1 ATOX1, HAH1 C Antioxidant protein 1 (ATX, yeast, homolog of) 602270 A
5.578 12 8 17 5q32 CAMK2A, KIAA0968, CAMKA, MRD53 P Calcium/calmodulin-dependent protein kinase II-alpha 114078 H, R, REc Mental retardation, autosomal dominant 53, 617798 (3) 18(Camk2a)
5.579 6 10 94 5q33.1 CD74, DHLAG C CD74 antigen (invariant polypeptide of major histocompatibility class II antigen-associated) 142790 S, REb, REa, A 18(Ii)
5.580 1 9 13 5q32 CSF1R, FMS, HDLS C Colony-stimulating factor-1 receptor; oncogene FMS (McDonough feline sarcoma) 164770 REa, A FMS2 is 5' end Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3) 18(Fim2)
5.581 1 13 11 5q32 CSNK1A1 P Casein kinase-1, alpha-1 polypeptide 600505 REc previously assigned to 13q13
5.582 1 30 01 5q32 DPYSL3, ULIP, DRP3 P Dihydropyrimidinase-like 3 601168 A
5.583 9 1 12 5q33.1 GLRA1, STHE, HKPX1 C Glycine receptor, alpha-1 polypeptide 138491 Fd, R, A Hyperekplexia, hereditary 1, autosomal dominant or recessive, 149400 (3) 11(spd)
5.584 7 7 14 5q32 GRXCR2, DFNB101 P Glutaredoxin, cysteine-rich, 2 615762 REc mutation identified in 1 DFNB101 family ?Deafness, autosomal recessive 101, 615837 (3) 18(Grxcr2)
5.585 3 23 06 5q31.3 HLA-HB1 P Minor histocompatibility antigen HB-1 609961 REc
5.586 3 27 13 5q33.3 ITK, EMT, LPFS1 C T-cell-specific tyrosine kinase; homolog of mouse T-cell itk/tsk tyrosine kinase 186973 A Lymphoproliferative syndrome 1, 613011 (3) 11(Itk)
5.587 5 23 13 5q32 JAKMIP2, JAMIP2, NECC1, KIAA0555 P Janus kinase and microtubule-interacting protein 2 611197 REc, R
5.588 9 23 14 5q32 LARS, LFIS, ILFS1 C Leucyl-tRNA synthetase 151350 S, H, REc mutation identified in 1 family ?Infantile liver failure syndrome 1, 615438 (3)
5.589 10 13 15 5q32 PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS C Platelet-derived growth factor receptor, beta polypeptide 173410 REa, A, REn fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders Myeloproliferative disorder with eosinophilia, 131440 (4); Basal ganglia calcification, idiopathic, 4, 615007 (3); Myofibromatosis, infantile, 1, 228550 (3); Premature aging syndrome, Penttinen type, 601812 (3); Kosaki overgrowth syndrome, 616592 (3) 18(Pdgfr)
5.590 5 13 10 5q33.1 RPS14, EMTB C Ribosomal protein S14 130620 S, REc Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
5.591 6 7 10 5q32 SH3RF2, HEPP1 P SH3 domain-containing RING finger protein 2 613377 REc
5.592 8 20 10 5q32 SH3TC2, KIAA1985, MNMN P SH3 domain and tetratricopeptide repeat domain 2 608206 REc Charcot-Marie-Tooth disease, type 4C, 601596 (3); Mononeuropathy of the median nerve, mild, 613353 (3)
5.593 11 22 13 5q33.1 SMIM3, NID67 P Small integral membrane protein 3 608324 REc
5.594 12 20 11 5q32 SPINK1, PSTI, PCTT, TATI, TCP C Serine protease inhibitor, Kazal type I (pancreatic secretory trypsin inhibitor) 167790 REb Pancreatitis, hereditary, 167800 (3); {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3); Tropical calcific pancreatitis, 608189 (3)
5.595 7 17 14 5q32 SPINK6 P Serine peptidase inhibitor, KAZAL-type, 6 615868 REn
5.596 5 6 13 5q32 SPINK13 P Serine protease inhibitor, Kazal-type, 13 615205 REc
5.597 7 31 17 5q32 SPINK5, LEKTI P Serine protease inhibitor, Kazal type, 5 605010 A, Fd Netherton syndrome, 256500 (3)
5.598 1 9 17 5q32 SPINK7, ECRG2 P Serine peptidase inhibitor, Kazal-type, 7 617288 REc
5.599 10 2 07 5q31.3 YIPF5, SMAP5, YIP1A P Yip1 domain family, member 5 611483 REc
5.600 5 20 99 5q33.3 ADAM19, MLTNB P A disintegrin and metalloproteinase domain-19 (meltrin-beta, mouse, homolog of) 603640 R 11(Adam19)
5.601 11 16 17 5q33.1 FAT2, MEGF1, SCA45 P Fat tumor suppressor, Drosophila, homolog of, 2 604269 R Spinocerebellar ataxia 45, 617769 (3)
5.602 8 28 01 5q35.1 GABRP P Gamma-aminobutyric acid receptor, pi 602729 REc
5.603 6 15 99 5q31.3 PCDH1, PC42 P Protocadherin 1 (cadherin-like 1) 603626 Psh 18(Pcdh1)
5.604 1 30 96 5q33.1 GPX3 C Glutathione peroxidase-3, plasma 138321 REa, REn
5.605 3 23 18 5q32 SLC26A2, DTD, DTDST, D5S1708, EDM4 C Solute carrier family 26 (sulfate transporter), member 2 (diastrophic dysplasia sulfate transporter) 606718 Fd, REn distal to APC Diastrophic dysplasia, 222600 (3); Achondrogenesis Ib, 600972 (3); Epiphyseal dysplasia, multiple, 4, 226900 (3); Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3); De la Chapelle dysplasia, 256050 (3); Atelosteogenesis, type II, 256050 (3)
5.606 1 31 11 5q32-q33 TCOF1, MFD1, TCS1 C Treacle 606847 Ch, Fd prox. to SPARC Treacher Collins syndrome 1, 154500 (3) 18(Tcof1)
5.607 5 7 03 5q33.1 TNIP1, NAF1, KIAA0113 P TNFAIP3-interacting protein 1 607714 REc
5.608 3 5 98 5q33.3 TTC1, TPR1 P Tetratricopeptide repeat domain-1 601963 REa
5.609 6 13 95 5q33.2 MFAP3 P Microfibrillar-associated protein-3 600491 REa
5.610 12 4 14 5q33.1 NDST1, HSST, MRT46 C N-deacetylase/N-sulfotransferase (heparan sulfate-N-deacetylase/N-sulfotransferase) 600853 REn Mental retardation, autosomal recessive 46, 616116 (3)
5.611 12 16 05 5q32 ADRB2 C Adrenergic, beta-2-, receptor, surface 109690 S, REa, A, Fd, RE {Asthma, nocturnal, susceptibility to}, 600807 (3); {Obesity, susceptibility to}, 601665 (3); Beta-2-adrenoreceptor agonist, reduced response to (3) 18(Adrb2)
5.612 2 1 90 5q33.1 ANXA6, CBP68 C Annexin A6 (calcium-binding protein p68) 114070 REa, A, REn
5.613 8 28 97 5q34 CCNG1 P Cyclin G1 601578 A 11(Ccng1)
5.614 4 5 00 5q32 IL17B P Interleukin 17B 604627 R
5.615 7 11 93 5q33.3 ADRA1B C Adrenergic, alpha-1B-, receptor 104220 REa, A, RE 11(Adra1)
5.616 3 1 94 5q33.2 GRIA1, GLUR1 C Glutamate receptor, ionotropic, AMPA 1 138248 A, REa, R 11(Glur1)
5.617 2 28 08 5q33.2 MRPL22 P Mitochondrial ribosomal protein L22 611835 R
5.618 1 18 13 5q33.3 NIPAL4, ICHYN, ARCI6 C NIPA-like domain-containing 4 609383 Fd, REc Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
5.619 4 17 06 5q32 PPARGC1B, PGC1B, PERC P Peroxisome proliferator-activated receptor-gamma, coactivator 1, beta 608886 REc {Obesity, variation in}, 601665 (3)
5.620 9 3 99 5q33.3 PTTG1, EAP1, TUTR1 P Pituitary tumor-transforming gene 1 604147 A, R
5.621 2 12 02 5q33.2-q33.3 SGCD, SGD, LGMD2F, CMD1L C Sarcoglycan, delta (35kD dystrophin-associated glycoprotein) 601411 REa, A, Fd mutant in Syrian hamster cardiomyopathy Muscular dystrophy, limb-girdle, type 2F, 601287 (3); Cardiomyopathy, dilated, 1L, 606685 (3)
5.622 12 29 06 5q35.3 F12, HAF, HAE3 C Coagulation factor XII (Hageman factor) 610619 REa, A Factor XII deficiency, 234000 (3); Angioedema, hereditary, type III, 610618 (3)
5.623 9 5 91 5q32 RPS20B P Ribosomal protein S20B 180464 REa ?pseudogene
5.624 1 5 12 5q32 AFAP1L1 P Actin filament-associated protein 1-like 1 614410 REc
5.625 8 31 12 5q33.1 DCTN4, P62, DYN4 P Dynactin 4 614758 REc
5.626 12 24 13 5q32 FBXO38, FBX38, MOKA, HMN2D C F-box only protein 38 608533 REc Neuronopathy, distal hereditary motor, type IID, 615575 (3) 18(Fbxo38)
5.627 9 2 11 5q33.1 G3BP1, G3BP P GTPase-activating protein SH3 domain-binding protein 1 608431 REc, R
5.628 8 2 16 5q33.1 IRGM, LRG47, IFI1, IBD19 P Immunity-related GTPase family, M 608212 REc {Mycobacterium tuberculosis, protection against}, 607948 (3); {Inflammatory bowel disease (Crohn disease) 19}, 612278 (3)
5.629 2 3 05 5q33.2 KIF4B P Kinesin family member 4B 609184 A
5.630 3 23 09 5q32 MIR143, MIRN143 P Micro RNA 143 612117 REc
5.631 3 23 09 5q32 MIR145, MIRN145 P Micro RNA 145 611795 REc
5.632 3 23 09 5q32 MIR378, MIRN378 P Micro RNA 378 611957 REc
5.633 5 19 06 5q33.1 NMUR2, NMU2R, FM4 P Neuromedin U receptor 2 605108 REc
5.634 12 4 08 5q33.1 RBM22 P RNA-binding motif protein 22 612430 REc
5.635 4 20 10 5q33.1 SLC36A2, PAT2 P Solute carrier family 36 (proton/amino acid symporter), member 2 608331 REc, H Iminoglycinuria, digenic, 242600 (3); Hyperglycinuria, 138500 (3) 11(Slc36a2)
5.636 12 15 10 5q32 SPINK9, LEKTI2 P Serine protease inhibitor, Kazal-type, 9 613511 REc
5.637 3 22 07 5q33.1 SYNPO P Synaptopodin 608155 R, REc
5.638 12 18 08 5q33.1 ZNF300 C Zinc finger protein 300 612429 REc
5.639 3 4 10 5q33.1-q35.2 FECD5, FCD3 P Corneal dystrophy, Fuchs endothelial, 5 613269 Fd flanked by D5S470 and D5S2108 Corneal dystrophy, Fuchs endothelial, 5 (2)
5.640 1 26 97 5q35.1 LCP2, SLP76 P Lymphocyte cytosolic protein-2 (SH2 domain-containing leukocyte protein of 76kD) 601603 Fd
5.641 10 1 17 5q33.2 HAND1, EHAND P Heart- and neural crest derivatives-expressed 1 602406 REc
5.642 1 27 04 5q33.2 GALNT10, GalNAcT10 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 608043 R, REc
5.643 8 31 09 5q33.2 GEMIN5 P GEM-associated protein 5 607005 R, REc
5.644 7 31 17 5q33.3 HAVCR1, HAVCR P Hepatitis A virus cellular receptor 1 606518 REc, H
5.645 12 7 07 5q34 HMMR C Hyaluronan-mediated motility receptor (RHAMM) 600936 REa, H, REc {Breast cancer, susceptibility to}, 114480 (3) 11(hmmr)
5.646 6 10 08 5q33.2 LARP1, LARP, KIAA0731 P La ribonucleoprotein domain family, member 1 612059 REc incorrectly mapped to chromosome 10
5.647 8 19 13 5q33.2 SAP30L P SAP30-like protein 610398 REc
5.648 1 30 02 5q33.3 TIM3 P T-cell immunoglobulin- and mucin-domain-containing molecule 606652 REc 11(Tim3)
5.649 8 19 13 5q33.3 TIMED4, TIM4, SMUCKLER P T-cell immunoglobulin and mucin domains-containing protein 4 610096 REc, H 11(Tim4)
5.650 5 31 13 5q33.3 C5orf54, ZBED8, BUSTER3 P Chromosome 5 open reading frame 54 615253 REc
5.651 5 4 09 5q33.3 CLINT1, EPN4, EPNR, KIAA0171 C Clathrin interactor 1 (epsin 4) 607265 R, Fd
5.652 11 15 08 5q33.3 CYFIP2 P Cytoplasmic FMRP interacting protein 2 606323 R, REc
5.653 5 19 15 5q33.3 IL12B, NKSF2, IMD29 C Interleukin-12B (natural killer cell stimulatory factor-2, cytotoxic lymphocyte maturation factor-2, p40) 161561 R, REn, A, REc between GLR1 and GABRA1 Immunodeficiency 29, mycobacteriosis, 614890 (3) 11(Il12b)
5.654 4 6 18 5q33.3 LSM11 P Lsm11, U7 small nuclear RNA-associated protein 617910 REc
5.655 8 31 09 5q33.3 MED7, CRSP9, CRSP33 P Mediator complex subunit 7 605045 R, REc
5.656 2 23 09 5q33.3 MIR146A, MIRN146A P Micro RNA 146A 610566 REc
5.657 12 22 17 5q33.3 PWWP2A P PWWP domain-containing protein 2A 617823 REc
5.658 2 7 06 5q33.3 UBLCP1 P Ubiquitin-like domain-containing CTD phosphatase 1 609867 REc
5.659 12 14 95 5q35.1 DUSP1, CL100, PTPN10 C Dual specificity phosphatase-1 600714 A, REc
5.660 8 10 98 5q33.3 EBF, OLF1 P Early B-cell factor (olfactory neuronal transcription factor 1) 164343 REa, A 11(Ebf)
5.661 1 23 01 5q35.1 FGF18 P Fibroblast growth factor-18 603726 R
5.662 12 7 07 5q35.1 FOXI1, FKHL10, FREAC6 C Forkhead box I1 601093 A some patients have digenic mutations with SLC26A4 Enlarged vestibular aqueduct, 600791 (3)
5.663 8 8 17 5q34 GABRG2, GEFSP3, CAE2, ECA2 C Gamma-aminobutyric acid (GABA) A receptor, gamma-2 137164 REn, R, Psh in alpha/beta/gamma cluster Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3); {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3); Febrile seizures, familial, 8, 611277 (3)
5.664 5 6 04 5q35.1 KCNMB1 C Potassium large conductance calcium-activated channel, subfamily M, beta member 1 603951 Psh, A {Hypertension, diastolic, resistance to}, 608622 (3)
5.665 12 21 09 5q34 MIR103-1, MIRN103-1 P Micro RNA 103-1 613187 REc
5.666 1 29 16 5q34 MIR218-2 C Micro RNA 218-2 616771 REn, REc in intron of SLIT3 11(Mir218-2)
5.667 9 23 13 5q35.1 NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2 C NK2 homeobox-5 gene 600584 A, Psh, REc near border with 5q35 Atrial septal defect 7, with or without AV conduction defects, 108900 (3); Tetralogy of Fallot, 187500 (3); Hypothyroidism, congenital nongoitrous, 5, 225250 (3); Ventricular septal defect 3, 614432 (3); Hypoplastic left heart syndrome 2, 614435 (3); Conotruncal heart malformations, variable, 217095 (3) 17(Csx)
5.668 1 3 02 5q35.1 RANBP17 P RAN-binding protein 17 606141 Ch
5.669 12 26 14 5q34 RARS, HLD9 C Arginyl-tRNA synthetase 107820 S, REc Leukodystrophy, hypomyelinating, 9, 616140 (3)
5.670 2 5 15 5q34 TENM2, ODZ2, TNM2, KIAA1127 P Teneurin transmembrane protein 2 610119 REc
5.671 1 22 18 5q34 GABRB2, ICEE2 P Gamma-aminobutyric acid (GABA) A receptor, beta-2 600232 Psh Epileptic encephalopathy, infantile or early childhood, 2, 617829 (3)
5.672 4 29 14 5q34 GABRA1, EJM5, ECA4, EIEE19 C Gamma-aminobutyric acid (GABA) A receptor, alpha-1 137160 A, R, Fd, REn in same 200kb as GABRG2 {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3); {Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3); Epileptic encephalopathy, early infantile, 19, 615744 (3) 11(Gabra1)
5.673 6 15 99 5q35.3 GFPT2, GFAT2 P Glutamine: fructose-6-phosphate amidotransferase 2 603865 R, H 11(Gfat2)
5.674 11 4 16 5q35.2 MSX2, CRS2, HOX8 C msh, Drosophila, homeo box homolog of, 2 123101 Fd, REa, A Craniosynostosis 2, 604757 (3); Parietal foramina 1, 168500 (3); Parietal foramina with cleidocranial dysplasia, 168550 (3)
5.675 11 4 05 5q34-q35.2 NIDDM4 P Diabetes mellitus, noninsulin-dependent, 4 608036 Fd {Diabetes mellitus, noninsulin-dependent}, 125853 (2)
5.676 1 14 14 5q34 WWC1, KIBRA, KIAA0869, MEMRYQTL P WW, C2, and coiled-coil domain-containing 1 610533 REc [Memory, enhanced, QTL], 615602 (3)
5.677 8 28 01 5p13.3-p13.2 ADAMTS12 P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 12 606184 REa, R
5.678 8 18 98 5q35 AMCN, AMCN1 P Arthrogryposis multiplex congenital, neurogenic 208100 Fd, LD Arthrogryposis multiplex congenita, neurogenic (2)
5.679 8 28 01 5q35.3 BTNL3 P Butyrophilin-like protein 3 606192 REa, R
5.680 2 28 94 5q35.3 CANX P Calnexin 114217 REa, A
5.681 10 23 87 5q35 CHR C Chromate resistance (sulfate transport) 118840 S
5.682 2 25 15 5q35.3 CLK4 P CDC-like kinase 4 607969 REc
5.683 6 9 06 5q35.3 COL23A1 P Collagen, type XXIII, alpha-1 610043 REc 11(Col23a1)
5.684 5 29 12 5q35.3 GRK6, GPRK6 P G protein-coupled receptor kinase 6 600869 REa
5.685 1 31 13 5q35.3 GRM6, MGLUR6, CSNB1B C Glutamate receptor, metabotropic, 6 604096 REa, A Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
5.686 7 1 11 5q35.3 LTC4S P Leukotriene C4 synthase 246530 A Leukotriene C4 synthase deficiency, 614037 (1)
5.687 2 23 09 5q35.3 MAML1 C Mastermind, Drosophila, homolog of, 1 605424 R, REc
5.688 11 20 98 5q35.3 MAPK9, PRKM9, JNK2 P Mitogen-activated protein kinase 9 602896 A
5.689 11 4 98 5q35.3 MGAT1, GLYT1 C Mannosyl (alpha-1,3-)-glycoprotein beta-1,2, N-acetylglucosaminyltransferase 160995 REa, A 11(Glyt1)
5.690 3 8 00 5q35.3 MGAT4B P Alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B 604561 A
5.691 9 18 17 5q35.3 NSD1, ARA267, STO, SOTOS1 C Nuclear receptor binding SET domain protein 1 606681 A fusion gene with NUP98 in AML Sotos syndrome 1, 117550 (3); Leukemia, acute myeloid, 601626 (1)
5.692 8 27 15 5q35.1 NPM1 P Nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) 164040 Ch, A fused with RARA in APL Leukemia, acute myeloid, somatic, 601626 (3)
5.693 7 9 06 5q34 PANK3 P Pantothenate kinase 3 606161 REn
5.694 3 25 02 5q35.3 SCGB3A1, HIN1 P Secretoglobin, family 3A, member 1 606500 A
5.695 5 25 17 5q35.3 SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2, HCINF2 C Solute carrier family 34 (sodium phosphate cotransporter), member 1 182309 Psh, A, R, REc mutation identified in 1 FRTS2 family Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3); ?Fanconi renotubular syndrome 2, 613388 (3); Hypercalcemia, infantile, 2, 616963 (3) 13(Slc17a2)
5.696 6 15 99 5q34-q35 SLIT3, SLIL2, MEGF5 P Slit, Drosophila, homolog of, 3 603745 R
5.697 6 21 05 5q35.2 SNCB P Synuclein, beta 602569 A Dementia, Lewy body, 127750 (3)
5.698 11 23 16 5q35.3 SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV C Sequestosome 1 601530 R, Fd Paget disease of bone 3, 167250 (3); Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3); Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3); Myopathy, distal, with rimmed vacuoles, 617158 (3)
5.699 6 5 08 5q35.1 UBTD2, DCUBP, MGC30022 P Ubiquitin domain-containing protein 2 610174 REc
5.700 2 25 08 5q35.2 UIMC1, RAP80 P Ubiquitin interaction motif containing 1 609433 A
5.701 8 20 07 5q35.1 ATP6V0E, ATP6H P ATPase, H+ transporting, lysosomal 9kD V0 subunit e 603931 R, REc previously mapped to Chr.2
5.702 6 22 12 5q35.1 BNIP1, NIP1 P BCL2/adenovirus E1B 19kD protein-interacting protein 1 603291 REc
5.703 9 2 16 5q35.1 CREBRF, LRF, C5orf41 P CREB3 recruitment factor 617109 REc
5.704 6 23 15 5q35.1 DOCK2, IMD40 P Dedicator of cytokinesis 2 603122 R, Psh, REc Immunodeficiency 40, 616433 (3)
5.705 8 24 92 5q35.2 DRD1 C Dopamine receptor D1 126449 REa, A, Fd, REn, R same 300kb fragment as GRL
5.706 5 13 09 5q35.1 FBXW11, FBXW1B, BTRC2, BTRCP2 C F-box and WD40 domain protein 11 605651 R, A 11(Fbxw11)
5.707 3 29 10 5q35.1 SH3PXD2B, TKS4, KIAA1295, FTHS P SH3 and PX domains-containing protein 2B 613293 REc Frank-ter Haar syndrome, 249420 (3) 11(Sh3pxd2b)
5.708 4 2 16 5q35.1 SNORA74B P Small nucleolar RNA, H/ACA box, 74B 611331 REc in intron 3 of ATP6V0E1
5.709 6 3 15 5q35.1 SPDL1, CCDC99, SPINDLY P Spindly apparatus coiled-coil protein 1 616401 REc
5.710 3 31 15 5q35.2 STC2, STCRP P Stanniocalcin 2 603665 REc
5.711 6 22 99 5q35.1 STK10, LOK P Serine/threonine protein kinase-10 603919 A 11(Stk10)
5.712 7 15 02 5q35.1 TLX3, HOX11L2, RNX C T-cell leukemia, homeobox 3 604640 R, A activated in T-cell ALL 11(Hox11l2)
5.713 2 20 03 5q35.2 FGFR4 C Fibroblast growth factor receptor-4 134935 REa, A, R distal to DRD1 {Cancer progression/metastasis} (3) 13(Fgfr4)
5.714 1 11 16 5q35.2 BOD1, FAM44B P Biorientation of chromosomes in cell division 1 616745 REc
5.715 9 29 10 5q35.2 CLTB P Clathrin, light polypeptide (Lcb) 118970 REa, A, REc previously mapped to chr. 4
5.716 8 17 09 5q35.2 CPLX2, CPX2 P Complexin 2 605033 R, REc
5.717 5 2 16 5q35.2 FAF2, ETEA, UBXD8, KIAA0887 P Fas-associated factor family, member 2 616935 REc
5.718 5 26 13 5q35.2 GPRIN1, GRIN1, KIAA1893 P G protein-regulated inducer of neurite outgrowth 1 611239 REc
5.719 9 28 96 5q35.2 HK3 C Hexokinase-3, white cell 142570 A, Psh
5.720 1 13 16 5q35.2 HMP19, NSG2 P Hypothalamus golgi apparatus-expressed protein, 19kD 616752 REc
5.721 7 7 09 5q35.2 MENOQ4 P Menopause, natural, age at, QTL4 612886 Fd associated with rs365132, rs7718874, rs402511, rs691141, rs2278493 {Menopause, natural, age at, QTL4} (2)
5.722 7 13 09 5q35.2 NOP15, HSPC111 P Nop16, S. cerevisiae, homolog of 612861 REc
5.723 7 15 09 5q35.3 PFN3 P Profilin 3 612812 REc
5.724 12 29 13 5q35.2 SFXN1 P Sideroflexin 1 615569 REc 13(Sfxn1)
5.725 8 31 09 5q35.2 THOC3, TEX1 P THO complex 3 (Tex1, yeast, homolog of) 606929 R, REc
5.726 7 7 09 5q35.2 UNC5A, UNC5H1 P UNC5, C. elegans, homolog of, A 607869 REc
5.727 9 27 17 5q35.2 ZNF346, JAZ P Zinc finger protein 346 605308 REc
5.728 12 22 17 5q35.3 B4GALT7, XGALT1, XGPT1, EDSSPD1 C Beta-1,4-galactosyltransferase 7 604327 REc, A Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3)
5.729 2 2 14 5q35.3 BTNL8, BTN9.2 P Butyrophilin-like protein 8 615606 REc
5.730 9 9 08 5q35.3 CNOT6, CCR4, KIAA1194 P CCR4-NOT transcription complex, subunit 6 608951 R, REc
5.731 8 31 09 5q35.3 DBN1 P Drebrin-1 126660 REb, REc 13(Dbn1)
5.732 3 25 16 5q35.3 DDX41, ABS, MPLPF P DEAD/H box 41 608170 R {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3)
5.733 7 26 10 5q35.3 DOK3, DOKL P Docking protein 3 611435 REc
5.734 7 14 14 5q35.3 FAM193B, IRIZIO, KIAA1931 P Family with sequence similarity 193, member B 615813 REc
5.735 9 22 14 5q35.3 FLT4, VEGFR3, PCL, LMPH1A C fms-related tyrosine kinase-4 (vascular endothelial growth factor receptor 3) 136352 A, R, Fd Lymphedema, hereditary, IA, 153100 (3); Hemangioma, capillary infantile, somatic, 602089 (3) 11(Flt4)
5.736 8 8 13 5q35.3 GNB2L1, RACK1 P Guanine nucleotide-binding protein, beta-2-like 1 176981 R, REc
5.737 3 25 96 5q35.3 HNRPH1 P Heterogeneous nuclear ribonucleoprotein H 601035 A
5.738 6 30 05 5q35.3 MXD3, MAD3 P MAX dimerization protein 3 609450 REc
5.739 10 12 16 5q35.3 MRNIP, C5orf45 P MRN complex-interacting protein 617154 REc
5.740 7 1 11 5q35.3 NOLA2, NHP2, DKCB2 P Nucleolar protein family A, member 2 606470 R, REc Dyskeratosis congenita, autosomal recessive 2, 613987 (3)
5.741 3 8 04 5q35.3 PDLIM7, ENIGMA C PDZ and LIM domain 7 (enigma) 605903 R
5.742 5 19 15 5q35.3 PHYKPL, AGXT2L2, PHLU P 5-phosphohydroxy-L-lysine phospho-lyase 614683 REc mutation identified in 1 PHLU patient [?Phosphohydroxylysinuria], 615011 (3)
5.743 8 31 09 5q35.3 RGS14 P Regulator of G protein signaling 14 602513 REc
5.744 7 22 09 5q35.3 PRELID1, PRELI, PX19 P PRELI domain-containing protein 1 605733 R, REc
5.745 12 18 08 5q35.3 RAB24 P Ras-associated protein 24 612415 R, REc
5.746 8 19 13 5q35.3 RUFY1 P RUN and FYVE domains-containing protein 1 610327 R, REc
5.747 3 18 98 5q35.3 TCF17, KID1 P Transcription factor-17 602444 A 11(Tcf17)
5.748 7 1 05 5q35.3 TRIM7, GNIP P Tripartite motif-containing protein 7 609315 R, REc
5.749 10 30 06 5q35.3 TRIM41 P Tripartite motif-containing 41 610530 REc
5.750 7 17 14 5q35.3 TRK-CTT2-4, TRNAK2, TRK2 P Transfer RNA lysine (CTT) 2-4 612996 REc
5.751 10 24 14 5q35.3 TRP-TGG3-5, TRNAP3, TRP3 P Transfer RNA-Pro (TGG) 3-5 189912 REa, A
5.752 10 24 14 5q35.3 TRT-TGT6-1, TRNAT1, TRT1 P Transfer RNA-Thr (TGT) 6-1 189913 REa, A
5.753 7 18 14 5q35.3 TRV-AAC1-4, TRNAV1, TRV1 P Transfer RNA valine (AAC) 1-4 189921 REc
5.754 7 17 14 5q35.3 TRV-CAC1-2, TRNAV2, TRV2 P Transfer RNA valine (CAC) 1-2 612995 REc
5.755 4 21 10 5q35.3 ZFP62 P Zinc finger protein 62 610281 R, REc 11(Zfp62)
5.756 7 10 15 6q22.31 GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP3 C Gap junction protein, alpha-1, 43kD (connexin 43) 121014 REa, REc pseudogene on chr.5 Oculodentodigital dysplasia, 164200 (3); Syndactyly, type III, 186100 (3); Hypoplastic left heart syndrome 1, 241550 (3); Atrioventricular septal defect 3, 600309 (3); Oculodentodigital dysplasia, autosomal recessive, 257850 (3); Craniometaphyseal dysplasia, autosomal recessive, 218400 (3); Erythrokeratodermia variabilis et progressiva 3, 617525 (3); Palmoplantar keratoderma with congenital alopecia, 104100 (3) 10(Gja1)
6.1 1 16 07 6p21.2 ZFAND3, TEX27 P Zinc finger AN1 domain-containing protein 3 607455 R, REc
6.2 2 17 09 6pter-p24 DEL6pter, C6DELpter P Chromosome 6pter-p24 deletion syndrome 612582 Ch Chromosome 6pter-p24 deletion syndrome (4)
6.3 2 28 03 6p21.33 MDC1, NFBD1, KIAA0170 P Mediator of DNA damage checkpoint protein 1 607593 Psh
6.4 4 6 18 6p21.1 CNPY3, TNRC5, PRAT4A, ERDA5, EIEE60 P Canopy 3, zebrafish, homolog of 610774 R, REc Epileptic encephalopathy, early infantile, 60, 617929 (3)
6.5 10 1 95 6p25.2 ELANH2, EI C Protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived 130135 Psh, R
6.6 3 8 91 6p21.31 CLPS C Colipase, pancreatic 120105 REa
6.7 5 9 07 6p21.31 ITPR3 C Inositol 1,4,5-triphosphate receptor, type 3 147267 REa, A {Diabetes, type 1, susceptibility to}, 222100 (2)
6.8 2 12 16 6p25.3 DUSP22, LMWDSP2, MKPX, VHX, JKAP, JSP1 P Dual-specificity phosphatase 22 616778 REc
6.9 8 1 13 6p25.3 EXOC2, SEC5L1, SEC5 P Exocyst complex component 2 615329 REc
6.10 12 4 98 6p25.3 FOXF2, FKHL6, FREAC2 P Forkhead box F2 603250 A, R
6.11 11 15 05 6p25.3 HUS1B P Hydroxyurea-sensitive 1, S. pombe, homolog of, B 609713 REc
6.12 12 4 03 6p24.3 CTAG3, CAGE1 P Cancer/testis antigen 3 608304 REc
6.13 4 22 10 6p25.3-p22.3 INTLQ3 P Intelligence quantitative trait locus 3 610294 Fd {Intelligence QTL3} (2)
6.14 11 11 14 6p25.2 ECI2, PECI, DRS1 P Enoyl-CoA delta isomerase 2 608024 R, REc
6.15 7 20 12 6p25.2 FAM60B, X5L C Family with sequence similarity 50, member B 614686 A, REc
6.16 9 10 09 6p25.2 PRPF4B, PRP4 P Pre-mRNA processing factor 4, yeast, homolog of, B 602338 R, REc
6.17 6 27 17 6p25.2 PSMG4, PAC4, C6orf86 P Proteasome assembly chaperone 4 617550 REc
6.18 5 21 14 6p25.2 RIPK1, RIP1, RIP P Receptor-interacting serine/threonine kinase 1 603453 REc
6.19 1 2 08 6p25.2 SLC22A23, C6orf85 P Solute carrier family 22, member 23 611697 REc 19(Slc22a23)
6.20 4 29 14 6p25.2 TUBB2A, CDCBM5 P Tubulin, beta-2A 615101 REc Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
6.21 7 26 17 6p25.2 TUBB2B, CDCBM7 P Tubulin, beta-2B 612850 REc TUBB2A is 70kb telomeric to TUBB2B Cortical dysplasia, complex, with other brain malformations 7, 610031 (3)
6.22 6 8 15 6p24.3 TXNDC5, ERP46, ENDOPDI, HCC2 P Thioredoxin domain-containing protein 5 616412 REc 13(Txndc5)
6.23 10 29 03 6p25.2 WRNIP1, WHIP P Werner helicase-interacting protein 1 608196 REc
6.24 9 1 09 6p25.1 CDYL P Chromodomain protein on Y chromosome-like 603778 R, REc 13(Cdyl)
6.25 2 19 18 6p25.1 FARS2, FARS1, COXPD14, SPG77 P Phenylalanyl-tRNA synthetase 2, mitochondrial 611592 R, REc Combined oxidative phosphorylation deficiency 14, 614946 (3); Spastic paraplegia 77, autosomal recessive, 617046 (3)
6.26 11 11 14 6p25.1 LY86, MD1 P Lymphocyte antigen 86 605241 REc
6.27 1 9 14 6p25.1 LYRM4, ISD11, C6orf149, COXPD19 P LYR motif-containing protein 4 613311 REc mutation identified in 1 family ?Combined oxidative phosphorylation deficiency 19, 615595 (3)
6.28 9 10 09 6p25.1 NRN1, NRN P Neuritin 1 607409 R, REc
6.29 9 10 09 6p25.1 RPP40 P Ribonuclease P, 40kD subunit 606117 R, REc
6.30 9 18 08 6p24.3 EEF1E1 P Eukaryotic translation elongation factor 1, epsilon-1 609206 REc
6.31 10 26 98 6p25.2 BPHL P Biphenyl hydrolase-like 603156 A
6.32 1 27 09 6p25 CLLS4 P Leukemia, chronic lymphocytic susceptibility to, 4 612558 Fd associated with rs872071 {Leukemia, chronic lymphocytic susceptibility to, 4} (2)
6.33 1 26 17 6p25.3 FOXC1, FKHL7, FREAC3, IRID1, RIEG3, ASGD3 C Forkhead, Drosophila, homolog-like 7 601090 A Anterior segment dysgenesis 3, multiple subtypes, 601631 (3); Axenfeld-Rieger syndrome, type 3, 602482 (3) 13(Fkhl7, ch, Mfl)
6.34 9 22 14 6p25.3 FOXCUT, LINC01379 P FOXC1 upstream transcript, noncoding 615976 REc
6.35 5 19 09 6p25.3 FOXQ1, HFH1 C Forkhead box Q1 612788 A, REc, H 13(Foxq1)
6.36 11 20 98 6p25.3 GMDS P GDP-mannose 4,6-dehydratase 602884 A
6.37 4 15 04 6p25 LRSL P Larsen-like syndrome 608545 Ch Larsen-like syndrome (2)
6.38 4 6 10 6p25.2 NQO2, NMOR2 C NAD(P)H dehydrogenase, quinone 2 (NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2) 160998 REa {?Breast cancer susceptibility}, 114480 (1)
6.39 11 5 97 6p25.2 PI9, CAP3, SERPINB9 P Protease inhibitor 9, ovalbumin type 601799 A
6.40 5 28 98 6p24.3 RREB1 P RAS-responsive element binding protein-1 602209 Psh, R, A
6.41 7 28 14 6p25.2 SERPINB6, PI6, PTI, SPI3, DFNB91 C Protease inhibitor 6 (placental thrombin inhibitor) 173321 Psh, R, A mutation identified in 1 DFNB91 family ?Deafness, autosomal recessive 91, 613453 (3) 13(Spi3)
6.42 11 2 11 6p25.1 F13A1, F13A C Coagulation factor XIII, A polypeptide 134570 F, Fd, A, D Factor XIIIA deficiency, 613225 (3); {Myocardial infarction, protection against}, 608446 (3); {Venous thrombosis, protection against}, 188050 (3)
6.43 11 24 14 6p25.3 IRF4, LSIRF, SHEP8 C Interferon regulatory factor-4 601900 A, Ch, Fd dysregulated in t(6;14) [Skin/hair/eye pigmentation, variation in, 8], 611724 (3)
6.44 1 11 17 6p24.3 HIPSTR P Long noncoding RNA HIPSTR 617136 REc overlaps TFAP2A 13(Hipstr)
6.45 9 2 08 6p24.3 HULC P Highly upregulated in liver cancer 612210 REc
6.46 9 1 95 6p24.3 OFC1, CL C Orofacial cleft-1 (cleft lip with or without cleft palate; isolated cleft palate) 119530 Fd, Ch probable heterogeneity Orofacial cleft-1 (2)
6.47 4 17 13 6p24.3 BLOC1S5, BLOS5, MUTED P Biogenesis of lysosome-related organelles complex 1, subunit 5 607289 H, REc 13(mu)
6.48 10 31 17 6p24.3 RIOK1, RIO1 P RIO kinase 1 617753 REc
6.49 3 15 07 6p24.3 SLC35B3, PAPST2 P Solute carrier family 25 (3'-phosphoadenosine 5'-phosphosulfate transporter), member B3 610845 REc
6.50 6 13 12 6p24.3 SSR1 P Signal sequence receptor, alpha 600868 REc
6.51 2 23 08 6p24.2 ELOVL2, SSC2 P Elongation of very long chain fatty acids-like 2 611814 REc
6.52 2 13 17 6p24.2 GCM2, GCMB, HRPT4 P Glial cells missing, Drosophila, homolog of, 2 603716 REc Hypoparathyroidism, familial isolated, 146200 (3); Hyperparathyroidism 4, 617343 (3)
6.53 8 25 11 6p24.2 MAK, RP62 P Male germ cell-associated kinase 154235 H, REc Retinitis pigmentosa 62, 614181 (3) 13(Mak)
6.54 9 10 12 6p24.2 NEDD9, HEF1, CASL P Neural precursor cell expressed, developmentally downregulated 9 602265 R, REc
6.55 12 28 08 6p24.2 PAK1IP1, PIP1 P PAK1-interacting protein 607811 R, REc
6.56 2 9 16 6p24.2 SYCP2L, C6orf177 P Synaptonemal complex protein 2-like 616799 REc
6.57 7 22 13 6p24.2 TMEM14C P Transmembrane protein 14C 615318 REc
6.58 11 19 11 6p24.1 C6orf105, ADTRP P Chromosome 6 open reading frame 105 (androgen-dependent TFPI-regulating protein) 614348 REc
6.59 5 26 13 6p24.2 ERVFRD-1 P Endogenous retrovirus group FRD, member 1 610524 REc
6.60 7 16 12 6p24.1 PHACTR1, KIAA1733 P Phosphatase and actin regulator 1 608723 REc
6.61 8 22 14 6p24.1 TBC1D7, PIG51, TBC7, MGCPH P TBC1 domain family, member 7 612655 REc Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3)
6.62 7 1 11 6p24.1-p22.3 DFNA21 P Deafness, autosomal dominant 21 607017 Fd previously mapped to 6p21.3 Deafness, autosomal dominant 21 (2)
6.63 11 24 14 6p24.3 DSP, KPPS2, PPKS2, DCWHKTA C Desmoplakin 125647 REa, REc, Fd splice variants result in DP I and DP II Keratosis palmoplantaris striata II, 612908 (3); Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3); Arrhythmogenic right ventricular dysplasia 8, 607450 (3); Skin fragility-woolly hair syndrome, 607655 (3); Epidermolysis bullosa, lethal acantholytic, 609638 (3); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
6.64 11 19 11 6p24.3 OFCC1, MRDS1 P OFC1 candidate gene 1 614287 REc
6.65 6 27 08 6p24.3 TFAP2A, AP2TF, BOFS C Transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha) 107580 Branchiooculofacial syndrome, 113620 (3) 13(Tcfap2)
6.66 2 18 98 6p24.3 BMP6 C Bone morphogenetic protein-6 112266 REa, REc
6.67 3 24 14 6p24.1 EDN1, ARCND3, QME, HDLCQ7 C Endothelin-1 131240 REa, A, Fd Auriculocondylar syndrome 3, 615706 (3); Question mark ears, isolated, 612798 (3); {High density lipoprotein cholesterol level QTL 7} (3) 13(Edn1)
6.68 5 6 15 6p24.3-p24.2 GCNT2, Ii, CTRCT13 C Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme 600429 A previously assigned to 9q21 [Blood group, Ii], 110800 (3); Cataract 13 with adult i phenotype, 116700 (3); Adult i phenotype without cataract, 110800 (3)
6.69 8 18 97 6p22.3 JMJ P Jumonji 601594 A 13(jmj)
6.70 11 3 92 6p24.1 HIVEP1, ZNF40 C Human immunodeficiency virus type I enhancer-binding protein-1 194540 REa, A, REc
6.71 5 4 00 6p23 CD83, HB15, BL11 P CD83 antigen 604534 REc 13(Cd83)
6.72 12 13 96 6p22.3 ATXN1, ATX1, SCA1 C Ataxin-1 601556 F, Fd, A Spinocerebellar ataxia 1, 164400 (3) 13(Sca1, Atx1)
6.73 2 22 00 6p22.3 DEK, D6S231E P DEK oncogene 125264 Ch fused with CAN in t(6;9) Leukemia, acute nonlymphocytic (2)
6.74 11 22 17 6p23 ETM3 P Tremor, hereditary essential, 3 611456 Fd max lod at D6S1630 and D6S1605 Essential tremor, hereditary, 3 (2)
6.75 3 18 94 6p22.3 GMPR, GMPR1 C Guanosine monophosphate reductase 139265 REb, A
6.76 1 22 08 6p22.3 MBOAT1 P Membrane-bound O-acetyltransferase domain-containing 1 611732 REc
6.77 5 23 16 6p23 MCUR1, CCDC90A, FMP32 P Mitochondrial calcium uniporter regulator 1 616952 REc
6.78 1 5 09 6p23 NOL7 P Nucleolar protein 7 611533 A
6.79 6 13 02 6p23 RANBP9, RANBPM P RAN-binding protein 9 603854 R, REc
6.80 12 14 98 6p23 SCZD3 C Schizophrenia susceptibility locus, chromosome 6-related 600511 Fd ?same as DTNBP1; cognitive deficit type {Schizophrenia}, 181500 (2)
6.81 9 10 09 6p23 SIRT5 P Sirtuin, S. cerevisiae, homolog 5 604483 R, REc
6.82 4 26 06 6p22.3 MYLIP, MIR P Myosin regulatory light chain-interacting protein 610082 REc
6.83 8 19 98 6p22.2 SLC17A1, NPT1 P Solute carrier family 17, sodium phosphate, member-1 (Sodium phosphate transport 1, kidney) 182308 REa 13(Slc17a1)
6.84 1 19 07 6p23-p21 SCAR3, SCABD P Spinocerebellar ataxia, autosomal recessive 3 271250 Fd Spinocerebellar ataxia, autosomal recessive 3 (2)
6.85 7 1 05 6p22.1 TRIM31, HCGI C Tripartite motif-containing protein 31 609316 REc, R
6.86 8 20 09 6p21.1 MEA1, MEA P Male-enhanced antigen 1 143170 REb, REa
6.87 9 2 09 6p22.1 TRNAM2, TRNAMI2, RNTMI2 P tRNA methionine-2 180620 REa 2 of 12+ RNTMI genes are on chr. 6
6.88 9 1 09 6p22.2 TRNAM1, TRMI2, TRM2, RNTMT1 P tRNA methionine-1 180621 REa
6.89 3 7 14 6p22.3 ACOT13, THEM2 P Acyl-CoA thioesterase 13 615652 REc
6.90 5 6 13 6p22.3 BWQTL4 P Birth weight quantitative trait locus 4 615192 Fd associated with rs7756992 [Birth weight QTL4] (2)
6.91 10 23 15 6p22.3 CASC15, LINC00340 P Cancer susceptibility candidate 15, noncoding 616610 REc
6.92 3 20 18 6p22.3 CDKAL1 P CDK5 regulatory subunit-associated protein 1-like 1 611259 REc
6.93 3 15 10 6p22.3 CIHL L Hearing loss, cisplatin-induced, susceptibility to 613290 Fd associated with rs12201199 {?Hearing loss, cisplatin-induced, susceptibility to} (2)
6.94 6 21 16 6p22.3 DTNBP1, HPS7 P Dystrobrevin-binding protein 1 (dysbindin) 607145 R, Fd Hermansky-Pudlak syndrome 7, 614076 (3) 13(Dtnbp1)
6.95 2 26 16 6p22.3 GMNN, MGORS6 P Geminin 602842 R, REc Meier-Gorlin syndrome 6, 616835 (3)
6.96 10 13 09 6p22.3 KDM1B, LSD2, AOF1 P Lysine-specific demethylase 1B 613081 REc
6.97 7 20 12 6p22.3 KIF13A P Kinesin family member 13A 605433 REc
6.98 9 12 03 6p22.3 NHLRC1, EPM2A, EPM2B C NHL repeat-containing 1 gene (malin) 608072 REc, Fd Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
6.99 9 10 09 6p22.3 NUP153 P Nucleoporin, 153kD 603948 R, REc
6.100 7 29 15 6p21.1 POLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3, HLD11 P Polymerase I, RNA, subunit C 610060 REc Treacher Collins syndrome 3, 248390 (3); Leukodystrophy, hypomyelinating, 11, 616494 (3)
6.101 8 2 17 6p22.3 RBM24, RNPC6 P RNA-binding motif protein 24 617603 REc
6.102 6 12 07 6p22.3-p21.3 OTSC3 P Otosclerosis 3 608244 Fd Otosclerosis 3 (2)
6.103 9 30 98 6p22.3 SOX4 P SRY (sex determining region Y)-box 4 184430 REa, A 13(Sox4)
6.104 4 19 16 6p22.3 TPMT, TPMTD P Thiopurine S-methyltransferase 187680 Psh, A {Thiopurines, poor metabolism of, 1}, 610460 (3)
6.105 8 11 15 6p22.3 FAM65B, C6orf32, KIAA0386, PL48, DFNB104 P Family with sequence similarity 65, member B 611410 R, REc mutation identified in 1 DFNB104 family ?Deafness, autosomal recessive 104, 616515 (3)
6.106 9 2 09 6p22.3-p21.1 TRNAA1 P tRNA alanine-1 601431 REa, A
6.107 9 2 09 6p22.2 TRNAR3, TRR3 P tRNA arginine-3 601432 REa, A
6.108 5 23 16 6p22.3 TDP2, TTRAP P Tyrosyl-DNA phosphodiesterase 2 605764 REc Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
6.109 3 8 07 6p22.1 ZNF323 P Zinc finger protein 323 610794 REc
6.110 12 5 13 6p22.3-p22.2 CMAHP, CMAH P Cytidine monophospho-N-acetylneuraminic acid hydroxylase pseudogene 603209 A mutation inactivates gene in humans 13(Cmah)
6.111 12 15 10 6p22.2 HISTH2AA, H2AFR, H2AA P Histone gene cluster 1, H2A histone family, member A 613499 REc
6.112 2 21 06 6p22.2 HIST1H2BA, TSH2B P Histone 1, H2BA 609904 REc
6.113 7 7 17 6p22.3 KIAA0319 C KIAA0319 gene 609269 REc
6.114 9 22 08 6p22.2 LRRC16A, LRRC16, CARMIL P Leucine-rich repeat-containing protein 16A 609593 R, REc 13(Lrrc16)
6.115 7 22 13 6p22.2 TRNAR2 P Transfer RNA arginine 2 615305 REc
6.116 7 22 13 6p22.2 TRNAV21 P Transfer RNA valine 21 615306 REc
6.117 8 15 90 6p22.3 PRL C Prolactin 176760 REa, D ?between 6cen and GLO1 11(Prl)
6.118 8 24 09 6p22.1 ZSCAN12, ZNF96, KIAA0426 P Zinc finger- and SCAN domain-containing protein 12 603978 R, REc
6.119 2 1 11 6p22.2 BTN1A1, BTN P Butyrophilin 601610 REc 13(Btn)
6.120 2 1 11 6p22.2 BTN2A1, BTF1 P Butyrophilin, subfamily 2, member A1 613590 REc
6.121 2 1 11 6p22.2 BTN2A2, BTF2 P Butyrophilin, subfamily 2, member A2 613591 REc
6.122 2 1 11 6p22.2 BTN2A3 P Butyrophilin, subfamily 2, member A3 613592 REc
6.123 2 1 11 6p22.2 BTN3A1, BTF5, CD277 P Butyrophilin, subfamily 3, member A1 613593 REc
6.124 2 1 11 6p22.2 BTN3A2, BTF4 P Butyrophilin, subfamily 3, member A2 613594 REc
6.125 2 1 11 6p22.2 BTN3A3, BTF3 P Butyrophilin, subfamily 3, member A3 613595 REc
6.126 3 19 01 6p22.3 GPLD1, PIGPLD, GPIPLD P Phospholipase D1, glycosylphosphatidylinositol-specific 602515 A 13(Gpld1)
6.127 11 19 11 6p22.1 GPX5 P Glutathione peroxidase 5 (epididymal) 603435 REc 13(Gpx5)
6.128 9 9 13 6p22.1 GPX6 P Glutathione peroxidase 6 607913 REc
6.129 3 6 08 6p22.3 KAAG1, RU2AS P Kidney-associated antigen 1 608211 A
6.130 2 21 13 6p22.1 OR2J3, C3HEXS P Olfactory receptor, family 2, subfamily J, member 3 615016 REc [C3HEX, ability to smell], 615082 (3)
6.131 5 29 13 6p22.1 SCAND3, ZBED9, BUSTER4, KIAA1925 P SCAN domain-containing protein 3 615254 REc
6.132 7 22 09 6p22.1 STQTL18 P Stature quantitative trait locus 18 612892 Fd associated with rs10946808 {Stature QTL 18} (2)
6.133 6 17 16 6p22.1 TRIM40, RNF35 P Tripartite motif-containing protein 40 616976 REc
6.134 7 17 14 6p22.1 TRS-TGA4-1, TRNAS3, TRS3 P Transfer RNA serine (TGA) 4-1 606172 REc
6.135 7 22 13 6p22.1 TRNAT15 P Transfer RNA threonine 15 615309 REc
6.136 7 22 13 6p22.1 TRNAV12 P Transfer RNA valine 12 615307 REc
6.137 7 22 13 6p22.1 TRNAV17 P Transfer RNA valine 17 615308 REc
6.138 7 18 14 6p22.1 TRS-AGA2-4, TRNAS2, TRS2, TRNS P Transfer RNA serine (AGA) 2-4 189910 REc
6.139 11 15 08 6p22.1 ZFP57, TNDM1 P Zinc finger protein 57, mouse, homolog of 612192 R, REc, Fd, Ch Diabetes mellitus, transient neonatal, 1, 601410 (3)
6.140 7 16 02 6p22.1 TRIM39, RNF23, TFP P Tripartite motif-containing 39 605700 A
6.141 3 28 17 6p22.3 DCDC2, RU2, KIAA1154, NPHP19, DFNB66, NSC C Doublecortin domain-containing protein 2 605755 A mutation identified in 1 DFNB66 family Nephronophthisis 19, 616217 (3); ?Deafness, autosomal recessive 66, 610212 (3); Sclerosing cholangitis, neonatal, 617394 (3)
6.142 5 26 09 6p22.1 ZKSCAN3, ZNF306 P Zinc finger protein with KRAB and SCAN domains 3 612791 REc
6.143 4 10 14 6p22.1 ZNRD1AS1, TCTEX4, HTEX4 C ZNRD1 antisense RNA 1 615714 REc, H 17(Znrd1as1)
6.144 3 15 07 6p22.2 ZNF322A, ZNF489, ZNF322 P Zinc finger protein 322A 610847 REc
6.145 11 11 14 6p22.1 ZNRD1, TCTEX6, HTEX6 P Zinc ribbon domain-containing protein 1 607525 REc
6.146 7 23 15 6p22.1 ZSCAN26, SREZBP P Zinc finger- and SCAN domain-containing protein 26 616474 REc
6.147 5 19 06 6p22.3 ALDH5A1, SSADH C Succinic semialdehyde dehydrogenase 610045 REa, REc Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
6.148 11 7 08 6p22 ALPQTL3 P Alkaline phosphatase, plasma level of, QTL 3 612368 Fd linkage with rs9467160 {Alkaline phosphatase, plasma level of, QTL3} (2)
6.149 2 23 95 6p22.3 E2F3 P E2F transcription factor 3 600427 A
6.150 2 5 15 6p22.3 NBAT1 P Neuroblastoma-associated transcript 1, noncoding 616206 REc
6.151 9 22 09 6p22 NBLST4 P Neuroblastoma, susceptibility to, 4 613015 Fd associated with rs6939340, rs4712653, rs9295536 {Neuroblastoma, susceptibility to, 4} (2)
6.152 11 17 15 6p22.3 NRSN1, VMP P Neurensin 1 616630 REc
6.153 9 10 09 6p22.1 TRIM27, RFP P Tripartite motif-containing 27 602165 REc
6.154 2 14 03 6p22.1 HIST1H1B, H1F5 P Histone 1, H1b 142711 REa ~2Mb centromeric of H1F1 cluster
6.155 1 14 13 6p22.1 HIST1H2AG, H2AG, H2AFP P Histone gene cluster 1, H2A histone family, member 6 615012 REc
6.156 1 14 13 6p22.1 HIST1H2AH, H2AH P Histone gene cluster 1, H2A histone family, member H 615013 REc
6.157 4 3 03 6p22.1 HIST1H2AI, H2AFC P Histone 1, H2ai 602787 REc
6.158 4 3 03 6p22.1 HIST1H2AK, HIST1H2AI, H2AFD P Histone 1, H2ak 602788 REc
6.159 4 3 03 6p22.1 HIST1H2AJ, HIST1H2AK, H2AFE P Histone 1, H2aj 602791 REc
6.160 2 14 03 6p22.1 HIST1H2AL, H2AFI P Histone 1, H2al 602793 REc
6.161 2 14 03 6p22.1 HIST1H2AM, H2AFN P Histone 1, H2am 602796 REc
6.162 1 31 13 6p22.1 HIST1H2BJ, H2BJ P Histone gene cluster 1, H2B histone family, member J 615044 REc
6.163 1 31 13 6p22.1 HIST1H2BK, H2BK P Histone gene cluster 1, H2B histone family, member K 615045 REc
6.164 3 11 03 6p22.1 HIST1H2BL, H2BFC P Histone 1, H2bl 602800 REc
6.165 3 11 03 6p22.1 HIST1H2BM, H2BFE P Histone 1, H2bm 602802 REc
6.166 3 11 03 6p22.1 HIST1H2BN, H2BFD P Histone 1, H2bn 602801 REc
6.167 4 3 03 6p22.1 HIST1H2BO, H2BFN P Histone 1, H2bo 602808 REc
6.168 3 11 03 6p22.1 HIST1H3I, H3FF P Histone 1, H3i 602814 REc in cluster of 16 histone genes centromeric of major cluster
6.169 3 11 03 6p22.1 HIST1H3J, H3FJ P Histone 1, H3j 602817 REc in 2nd cluster on 6p
6.170 3 11 03 6p22.1 HIST1H3H, H3FK P Histone 1, H3h 602818 REc in minor cluster on 6p
6.171 3 11 03 6p22.1 HIST1H4J, H4FE P Histone 1, H4j 602826 REc
6.172 3 11 03 6p22.1 HIST1H4K, H4FD P Histone 1, H4k 602825 REc
6.173 3 11 03 6p22.1 HIST1H4L, H4FK P Histone 1, H4l 602831 REc
6.174 6 13 95 6p22.3 ID4 P Inhibitor of DNA binding 4, dominant negative helix-loop-helix protein 600581 A
6.175 8 27 02 6p22.1 PRSS16, TSSP P Protease, serine, 16 607169 REc 13(Prss16)
6.176 10 19 99 6p22.2 SLC17A4 P Solute carrier family 17 (sodium phosphate), member 4 604216 REa, R
6.177 6 11 11 6p21.31 FANCE, FACE P Fanconi anemia, complementation group E gene 613976 Fd, LD Fanconi anemia, complementation group E, 600901 (3)
6.178 10 29 99 6p21.33 ABCF1, ABC50 P ATP-binding cassette 50, TNF-alpha stimulated 603429 A
6.179 12 5 13 6p21.33 ATAT1, MEC17, C6orf134 P Alpha-tubulin acetyltransferase 1 615556 REc
6.180 4 27 10 6p21.3 ATPLS L Antiphospholipid syndrome, familial 107320 Fd possible linkage with HLA-DRB1*14 ?Antiphospholipid syndrome, familial (2)
6.181 4 28 10 6p21.33 AIF1, IRT1 C Allograft inflammatory factor 1 601833 R, REn part of TNF block
6.182 9 22 09 6p21.33 FL1 P Follicular lymphoma, susceptibility to, 1 613024 Fd associated with rs6457327 {Follicular lymphoma, susceptibility to, 1} (2)
6.183 4 21 17 6p21.33 G6B, C6orf25, THAMY P G6B protein 606520 REc mutation identified in 1 THAMY family ?Thrombocytopenia, anemia, and myelofibrosis, 617441 (3)
6.184 3 14 18 6p22.1 GABBR1, GABABR1 C Gamma-aminobutyric acid B receptor 1 603540 REc, H 17(Gabbr1)
6.185 2 18 09 6p21.33 LNCR4 P Lung cancer susceptibility 4 612593 Fd associated with rs3117582 and rs3131379 {Lung cancer susceptibility 4} (2)
6.186 3 23 09 6p21.33 MIR877, MIRN877 P Micro RNA 877 611619 REc
6.187 6 26 16 6p21.33 MUC21, C6orf205 P Mucin 21, cell surface-associated 616991 REc 17(Muc21)
6.188 4 20 17 6p21.33 MSH5, POF13 P MutS, E. coli, homolog of, 5 603382 REc mutation identified in POF13 family ?Premature ovarian failure 13, 617442 (3)
6.189 7 20 12 6p21.33 VWA7, C6orf27, G7C P von Willebrand factor A domain-containing protein 7 609693 REc 17(G7c)
6.190 12 18 07 6p22.1 ZKSCAN4, ZNF307 P Zinc finger with KRAB and SCAN domains 4 611643 REc
6.191 2 21 06 6p21.32 EGFL8 P Epidermal growth factor-like 8 609897 R, REc 17(Eglf8)
6.192 12 15 10 6p21.32 HLA-DQA2, HLA-DXA P Major histocompatibility complex, class II, DQ alpha-2 613503 REc
6.193 8 17 13 6p21.32 HLA-DQB2, HLA-DXB P Major histocompatibility complex, class II, DQ beta-2 615161 REc
6.194 3 23 09 6p21.32 MRI219-1, MIRN219-1 P Micro RNA 219-1 611500 REc
6.195 5 23 16 6p21.32 CUTA, ACHAP, C6orf82 P CutA, E. coli, homolog of 616953 REc
6.196 3 10 16 6p21.31 BRPF3, KIAA1286 P Bromodomain- and PHD finger-containing protein 3 616856 REc
6.197 9 2 08 6p21.31 C6orf106 P Chromosome 6 open reading frame 106 612217 REc
6.198 5 23 13 6p21.31 DEF6, IBP, SLAT P Def6, mouse, homolog of 610094 REc, H 17(Def6)
6.199 8 12 14 6p21.31 KCTD20 P Potassium channel tetramerization domain-containing protein 20 615932 REc
6.200 6 7 16 6p21.31 LEMD2, NET25, CTRCT42 P LEM domain-containing protein 2 616312 REc Cataract 46, juvenile-onset, 212500 (3)
6.201 1 18 13 6p21.31 PNPLA1, ARCI10 P Patatin-like phospholipase domain-containing protein 1 612121 REc Ichthyosis, congenital, autosomal recessive 10, 615024 (3)
6.202 11 1 13 6p21.1 PRICKLE4, C6orf49, OBTP P Prickle, Drosophila, homolog of, 4 611389 REc 17(Prickle4)
6.203 3 7 14 6p21.31 RPL10A, CSA19 P Ribosomal protein L10A 615660 REc
6.204 7 3 13 6p21.31 SLC26A8, TAT1, SPGF3 P Solute carrier family 26 (sulfate transporter), member 8 608480 REa, REc Spermatogenic failure 3, 606766 (3)
6.205 9 10 09 6p21.31 SNRPC P Small nuclear ribonucleoprotein polypeptide C 603522 R, REc
6.206 10 1 17 6p21.31 SRPK1 P Protein kinase, serine/arginine-specific, 1 601939 REc
6.207 7 22 09 6p21.31 STQTL19 P Stature quantitative trait locus 19 612893 Fd associated with rs1776897 {Stature QTL 19} (2)
6.208 9 10 09 6p21.31 TAF11, TAF2I, TAFII28 P TAF11 RNA polymerase II, TATA box-binding protein-associated factor, 28kD 600772 R, REc
6.209 7 18 14 6p21.31 UQCC2, C6orf126, M19 P Ubiquinol-cytochrome c reductase complex assembly factor 2 614461 REc mutation identified in 1 MC3DN7 patient ?Mitochondrial complex III deficiency, nuclear type 7, 615824 (3)
6.210 9 8 11 6p21.33 ABHD16A, BAT5, D6S82E P Abhydrolase domain-containing 16A 142620 RE
6.211 1 11 95 6p21.32 AGER, RAGE P Advanced glycosylation end product-specific receptor 600214 RE, A at junction of classes II, III MHC
6.212 10 15 98 6p21.32 AGPAT1, LPAATA P 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase-alpha) 603099 REn
6.213 11 2 04 6p21.31 ANKS1, ODIN, KIAA0229 P Ankyrin repeat and sterile alpha motif domains-containing protein 1 608994 R, REc
6.214 9 10 09 6p21.32 ATF6B, CREBL1 P Activating transcription factor 6 beta 600984 REc
6.215 7 18 02 6p21.33 ATP6V1G2, ATP6G P ATPase, H+ transporting, lysosomal, 13kD, V1 subunit G isoform 2 606853 REc
6.216 11 4 98 6p21.32 B3GALT4 C UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 4 603095 REc, REn
6.217 9 8 11 6p21.33 BAG6, BAT3, D6S52E P BCL2-associated athanogene 6 142590 RE
6.218 12 10 08 6p21.32 BRD2, RING3, FSRG1 P Bromodomain-containing protein 2 601540 REn, Fd between HLA-DNA and HLA-DMA
6.219 11 7 08 6p21.32 BTNL2, SS2 P Butyrophilin-like protein 2 606000 REc {Sarcoidosis, susceptibility to, 2}, 612387 (3)
6.220 12 27 13 6p21.33 C2, ARMD14 C Complement component-2 613927 F, LD, RE no crossover with BF C2 deficiency, 217000 (3); {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3) 17(C2)
6.221 12 19 11 6p21.33 C4A, C4S, C4AD C Complement component-4A 120810 F, H, RE, Fd order: HLA-B, C2, BF, C4A, C4B, CYP21, DR C4a deficiency, 614380 (3); [Blood group, Rodgers], 614374 (3) 17(C4)
6.222 12 19 11 6p21.33 C4B, C4F, C4BD C Complement component-4B 120820 F, H, RE, Fd 10kb from C4S C4B deficiency, 614379 (3) 17(C4)
6.223 9 15 10 6p21.31 C6orf1, LBH P Chromosome 6, open reading frame 1 611419 REc opposite strand, tail-to-tail with HMGA1
6.224 10 28 09 6p21.33 CCHCR1, HCR, C6orf18 P Coiled-coil alpha-helical rod protein 1 605310 REn ?role in psoriasis
6.225 11 10 14 6p21.33 CDSN, HTSS1, HYPT2, PSS1 C Corneodesmosin 602593 REn, Fd Hypotrichosis 2, 146520 (3); Peeling skin syndrome 1, 270300 (3)
6.226 1 14 14 6p21.33 CFB, BF, GBG, AHUS4, ARMD14, CFBD C Complement factor B 138470 F, RE mutation identified in 1 CFBD family {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3); ?Complement factor B deficiency, 615561 (3) 17(Bf)
6.227 7 24 17 6p21.32 COL11A2, DFNA13, DFNB53, FBCG2, OSMEDA, OSMEDB C Collagen XI, alpha-2 polypeptide 120290 REa, A, REn, Fd 45kb centromeric of HLA-DPB2; 3'--5'-cen Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3); Deafness, autosomal dominant 13, 601868 (3); Deafness, autosomal recessive 53, 609706 (3); Fibrochondrogenesis 2, 614524 (3); Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3) 17(Col11a2)
6.228 7 16 09 6p21.3 CTEPH1 P Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to 612862 Fd associated with DPB1*0202 {Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to} (2)
6.229 10 11 96 6p21.33 CSNK2B C Casein kinase-2, beta polypeptide 115441 REb, A
6.230 3 24 11 6p21.33 CYP21A2, CYP21, CA21H C Cytochrome P450, subfamily XXIA, polypeptide 2 (steroid 21-hydroxylase) 613815 F, RE 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); Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3) 17(Cyp21)
6.231 10 26 98 6p21.32 DAXX P Death-associated protein 6 603186 A
6.232 11 6 00 6p21.33 DDAH2 P Dimethylarginine dimethylaminohydrolase-2 604744 R, A
6.233 9 8 11 6p21.33 DDX39B, BAT1, D6S81E P DEAD box polypeptide 39Bipt-1 142560 RE 5 BATs in 160kb segment including also TNFA, TNFB
6.234 9 18 08 6p21.3 DFNA31 P Deafness, autosomal dominant 31 608645 Fd between D6S276 and D6S273 Deafness, autosomal dominant 31 (2)
6.235 4 30 09 6p21.33 DHX16, DDX16, DBP2, PRP8 C DEAH (Asp-Glu-Ala-His) box polypeptide 16 603405 R, A
6.236 7 17 01 6p21.33 DOM3Z P DOM3, C. elegans, homolog of, Z 605996 REc
6.237 4 26 11 6p21.33 DPCR1, C6orf37 P Diffuse panbronchiolitis critical region gene 1 613928 REc
6.238 7 7 17 6p22-p21 DYX2 P Dyslexia, susceptibility to, 2 600202 Fd ?between D6S105 and TNFB {Dyslexia, susceptibility to, 2} (2)
6.239 6 1 11 6p21.33 EHMT2, GAT8, G9A, NG36 P Euchromatic histone-lysine N-methyltransferase 2 604599 REc
6.240 8 17 16 6p21.32 FKBPL, DIR1, WISP39 C FK506-binding protein-like 617076 REc
6.241 9 10 09 6p21.33 FLOT1 P Flotillin 1 606998 R, REc
6.242 1 29 01 6p21.33 G8 P G8 protein 605447 REc
6.243 9 14 95 6p21.33 GNL1, HSR1 P Guanine nucleotide-binding protein-like 1 143024 REn
6.244 9 8 11 6p21.33 GPANK1, BAT4, D6S54E P G patch domain- and ankyrin repeats-containing protein 1 142610 RE
6.245 3 7 01 6p21.31 GRM4, MGLUR4 P Glutamate receptor, metabotropic, 4 604100 R
6.246 4 21 97 6p21.33 GTF2H4 P General transcription factor IIH, polypeptide 4 601760 A
6.247 6 7 10 6p21.33 HCP5, 6S2650E P Major histocompatibility complex, class I, gene P5-1 604676 REc
6.248 6 22 14 6p21.3 HCG8, HCGVIII P HLA complex group 8 615801 REc
6.249 6 22 14 6p22.1 HCG9, HCGIX, HCGIX4 P HLA complex group 9, noncoding 615797 REc
6.250 4 26 11 6p21.33 HCG22, PBMUCL2 P HLA complex group 22 613918 REc
6.251 3 11 03 6p22.2 HIST1H1A, H1F1 C Histone 1, H1a 142709 Psh, A
6.252 3 11 03 6p22.2 HIST1H1C, H1F2 P Histone 1, H1c 142710 REa, A 13(Hist1)
6.253 3 11 03 6p22.2 HIST1H1D, H1F3 C Histone 1, H1d 142210 A, Psh
6.254 6 28 17 6p22.2 HIST1H1E, H1F4, RMNS C Histone 1, H1e 142220 A Rahman syndrome, 617537 (3)
6.255 3 11 03 6p22.2 HIST1H1T, H1FT P Histone 1, H1t 142712 REc
6.256 2 14 03 6p22.2 HIST1H2AB, H2AFM P Histone 1, H2ab 602795 REc
6.257 3 11 03 6p22.2 HIST1H2AC, H2AFL P Histone 1, H2ac 602794 REc
6.258 3 11 03 6p22.2 HIST1H2AD, H2AFG P Histone 1, H2ad 602792 REn
6.259 3 11 03 6p22.2 HIST1H2AE, H2AFA P Histone 1, H2ae 602786 REc
6.260 2 14 03 6p22.2 HIST1H2BB, H2BFF P Histone 1, H2bb 602803 REc
6.261 3 11 03 6p22.2 HIST1H2BC, H2BFL P Histone 1, H2bc 602847 REc
6.262 3 11 03 6p22.2 HIST1H2BD, H2BFB P Histone 1, H2bd 602799 REc
6.263 2 14 03 6p22.2 HIST1H2BE, H2BFH P Histone 1, H2be 602805 REc
6.264 4 3 03 6p22.2 HIST1H2BF, H2BFG P Histone 1, H2bf 602804 REc
6.265 2 14 03 6p22.2 HIST1H2BG, H2BFA P Histone 1, H2bg 602798 REc
6.266 3 11 03 6p22.2 HIST1H2BH, H2BFJ P Histone 1, H2bh 602806 REc
6.267 3 11 03 6p22.2 HIST1H2BI, H2BFK P Histone 1, H2bi 602807 REc
6.268 3 11 03 6p22.2 HIST1H3A, H3FA P Histone 1, H3a 602810 REc
6.269 3 11 03 6p22.2 HIST1H3B, H3FL P Histone 1, H3fl 602819 REc in major cluster on 6p
6.270 3 11 03 6p22.2 HIST1H3C, H3FC P Histone 1, H3c 602812 REc
6.271 3 11 03 6p22.2 HIST1H3D, H3FB P Histone 1, H3d 602811 REc
6.272 12 14 01 6p22.2 HIST1H3E, H3FD, H3.1 P Histone 1, H3e 602813 REc in cluster of 35 histone genes
6.273 3 11 03 6p22.2 HIST1H3F P Histone 1, H3f 602816 REc
6.274 3 11 03 6p22.2 HIST1H3G, H3FH P Histone 1, H3g 602815 REc
6.275 3 11 03 6p22.2 HIST1H4A, H4FA P Histone 1, H4a 602822 REc
6.276 3 11 03 6p22.2 HIST1H4B, H4FI P Histone 1, H4b 602829 REc
6.277 3 11 02 6p22.2 HIST1H4C, H4FG P Histone 1, H4c 602827 REc
6.278 3 11 03 6p22.2 HIST1H4D, H4FB P Histone 1, H4d 602823 REc
6.279 3 11 03 6p22.2 HIST1H4E, H4FJ P Histone 1, H4e 602830 REc
6.280 3 11 03 6p22.2 HIST1H4F, H4FC P Histone 1, H4f 602824 REc
6.281 3 11 03 6p22.2 HIST1H4G, H4FL P Histone 1, H4g 602832 REc
6.282 3 11 93 6p22.2 HIST1H4H, H4FH P Histone 1, H4h 602828 REc
6.283 2 14 03 6p22.1 HIST1H4I, H4FM, H4M P Histone 1, H4i 602833 A
6.284 9 1 11 6p22.2 HFE, HLA-H, HFE1, MVCD7, TFQTL2 C Hemochromatosis gene 613609 LD, F Hemochromatosis, 235200 (3); {Microvascular complications of diabetes 7}, 612635 (3); {Porphyria variegata, susceptibility to}, 176200 (3); {Porphyria cutanea tarda, susceptibility to}, 176100 (3); {Alzheimer disease, susceptibility to}, 104300 (3); [Transferrin serum level QTL2], 614193 (3) 13(Mr2, Hfe)
6.285 6 13 11 6p22.1 HLA-A C Major histocompatibility complex, class I, A 142800 F {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3) 17(H2)
6.286 6 13 11 6p21.33 HLA-B, SPDA1 C Major histocompatibility complex, class I, B 142830 F, REn, Fd {Spondyloarthropathy, susceptibility to, 1}, 106300 (3); {Abacavir hypersensitivity, susceptibility to} (3); {Synovitis, chronic, susceptibility to} (3); {Drug-induced liver injury due to flucloxacillin} (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3); {Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
6.287 3 16 10 6p21.33 HLA-C, PSORS1 C Major histocompatibility complex, class I, C 142840 F, REn {Psoriasis susceptibility 1}, 177900 (3); {HIV-1 viremia, susceptibility to}, 609423 (3) 17(H2L)
6.288 5 24 90 6p22.1 HLA-F, HLA-CDA12, HLAF C Major histocompatibility complex, class I, F 143110 REn, Fd
6.289 1 8 95 6p21.32 HLA-DMA, RING6 P Major histocompatibility complex, class II, DM alpha 142855 D
6.290 1 8 95 6p21.32 HLA-DMB, RING7 P Major histocompatibility complex, class II, DM beta 142856 D
6.291 7 6 95 6p21.32 HLA-DOB P Major histocompatibility complex, class II, DO beta 600629 RE
6.292 10 23 87 6p21.32 HLA-DPA1, HLADP C Major histocompatibility complex, class II, DP alpha-1 142880 F, RE 2 different alpha, 2 different beta chains
6.293 10 28 93 6p21.32 HLA-DPB1 C Major histocompatibility complex, class II, DP beta-1 142858 F, RE {Beryllium disease, chronic, susceptibility to} (3)
6.294 10 31 07 6p21.32 HLA-DQA1, CELIAC1 C Major histocompatibility complex, class II, DQ alpha-1 146880 F, RE {Celiac disease, susceptibility to}, 212750 (3)
6.295 10 31 07 6p21.32 HLA-DQB1, CELIAC1 P Major histocompatibility complex, class II, DQ beta-1 604305 REc {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3); {Multiple sclerosis, susceptibility to, 1}, 126200 (3); {Celiac disease, susceptibility to}, 212750 (3)
6.296 8 28 17 6p21.32 HLA-DRB1, SS1 C Major histocompatibility complex, class II, DR beta-1 142857 F, RE {Sarcoidosis, susceptibility to, 1}, 181000 (3); {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
6.297 5 15 89 6p21.32 HLA-DRA C Major histocompatibility complex, class II, DR alpha 142860 F, RE 1 alpha, 3 different beta chains 17(H2I)
6.298 10 23 87 6p21.32 HLA-DNA C Major histocompatibility complex, class II, DN alpha 142930 F, RE
6.299 5 5 09 6p21.3 HLA-DRB3, HLA-DR52 P Major histocompatibility complex, class II, DR beta-3 612735 REn
6.300 4 6 00 6p21.32 HLA-DRB5 P Major histocompatibility complex, class II, DR beta-5 604776 REn
6.301 6 8 89 6p22.1 HLA-E P Major histocompatibility complex, class I, E 143010 REn
6.302 1 25 05 6p22.1 HLA-G C HLA-G histocompatibility antigen, class I 142871 REc, RE {Asthma, susceptibility to}, 600807 (2) 17(Qa)
6.303 2 19 02 6p21.32 HSD17B8, FABGL, D6S2245E, HKE6 P Hydroxysteroid (17-beta) dehydrogenase 8 (Ke6 gene, mouse, homolog of) 601417 REl 17(Ke6)
6.304 12 18 91 6p21.33 HSPA1A C Heat-shock 70kD protein-1A 140550 S, REa, A also 14q22-q24, chr.21, and at least 1 other chromosome 17(Hsp70)
6.305 1 13 99 6p21.33 HSPA1B P Heat-shock 70kD protein-1B 603012 REc
6.306 12 18 91 6p21.33 HSPA1L P Heat-shock 70kD protein-like-1 140559 REn
6.307 10 22 08 6p21.3 IBD3 P Inflammatory bowel disease 3 604519 Fd {Inflammatory bowel disease 3} (2)
6.308 6 11 01 6p21.3 IDDM1 P Insulin-dependent diabetes mellitus-1 222100 F, LD linkage or association, with HLA {Diabetes mellitus, insulin-dependent-1} (2)
6.309 11 3 98 6p21.33 IER3, DIF2, IEX1, PRG1, GLY96 P Immediate early response-3 602996 A
6.310 4 21 99 6p21.3 IGAD1 P Immunoglobulin A deficiency 137100 Fd Immunoglobulin A deficiency (2)
6.311 4 24 88 6p21.3 IGLP1 C Immune response to synthetic polypeptides-1 147080 F
6.312 4 24 88 6p21.3 IGLP2 C Immune response to synthetic polypeptides-2 147090 F
6.313 3 9 92 6p21.3 IGAT P Immune response to synthetic polypeptide--IRGAT 146820 F in B/D segment
6.314 10 23 87 6p21.3 ISCW P Immune suppression to streptococcal antigen 146850 H, F HLA-linked
6.315 3 23 09 6p21.32 KIFC1, KNSL2, HSET P Kinesin family member C1 603763 REc
6.316 1 31 08 6p21.31 LHFPL5, TMHS, DFNB67 C LHFP-like protein 5 609427 H, REc, Fd Deafness, autosomal recessive 67, 610265 (3) 17(Lhfp15)
6.317 9 10 09 6p21.33 LSM2, C6orf28 P LSM2 protein 607282 R, REc
6.318 1 6 09 6p21.33 LTA, TNFB C Lymphotoxin alpha (formerly tumor necrosis factor beta) 153440 REa, A, RE, Fd cen-DR-21OH-C4-BF-C2-TNF-LTA-HLA-B {Myocardial infarction, susceptibility to}, 608446 (3); {Psoriatic arthritis, susceptibility to}, 607507 (3); {Leprosy, susceptibility to, 4}, 610988 (3) 17(Tnfb)
6.319 1 27 97 6p21.33 LTB, TNFC P Lymphotoxin B 600978 REn
6.320 5 24 13 6p21.33 LY6G5B, G5B P Lymphocyte antigen 6 complex, locus G5B 610433 REc
6.321 5 24 13 6p21.33 LY6G5C, G5C P Lymphocyte antigen 6 complex, locus G5C 610434 REc
6.322 5 24 13 6p21.33 LY6G6C, G6C P Lymphocyte antigen 6 complex, locus G6C 610435 REc
6.323 8 28 02 6p21.33 LY6G6D, MEGT1, G6D, C6orf23 P Lymphocyte antigen 6 complex, locus G6D 606038 REn
6.324 5 24 13 6p21.33 LY6G6E, G6E P Lymphocyte antigen 6 complex, locus G6E 610437 REc
6.325 10 4 05 6p21.33 MCCD1 P Mitochondrial coiled-coil domain 1 609624 REc
6.326 12 14 95 6p21.33 MICA P MHC class I polypeptide-related sequence A 600169 REn
6.327 3 18 98 6p21.33 MICB P MHC class I polypeptide-related sequence B 602436 REn
6.328 1 7 95 6p21.31 MLN C Motilin 158270 REa, A, Fd
6.329 11 4 13 6p21.2 MOCS1, MOCODA C Molybdenum cofactor synthesis-1 603707 LD, A Molybdenum cofactor deficiency A, 252150 (3)
6.330 7 27 15 6p22.1 MOG, NRCLP7 C Myelin-oligodendrocyte glycoprotein 159465 A, REn 60kb telomeric to HLA-F; mutation identified in 1 NRCLP7 family ?Narcolepsy 7, 614250 (3) 17(Mog)
6.331 2 26 08 6p21.1 MRPL2 P Mitochondrial ribosomal protein L2 611822 R
6.332 2 26 08 6p21.1 MRPL14, MRPL32 P Mitochondrial ribosomal protein L14 611827 R
6.333 4 24 08 6p21.1 MRPS18A, MRPS18-3 P Mitochondrial ribosomal protein S18A 611981 R, REc
6.334 4 24 08 6p21.33 MRPS18B, MRPS18-2 P Mitochondrial ribosomal protein S18B 611982 REc pseudogenes on chromosomes 1 and 2
6.335 10 18 11 6p21.33 MUC22, PBMUCL1 P Mucin 22 613917 REc
6.336 7 2 02 6p21.3 MYAS1 C Myasthenia gravis with thymus hyperplasia 607085 Fd Myasthenia gravis with thymus hyperplasia (2)
6.337 3 20 08 6p21.33 NCR3, 1C7, NKP30, CD337, MALS P Natural cytotoxicity triggering receptor 3 611550 REc {Malaria, mild, susceptibility to}, 609148 (3)
6.338 6 1 99 6p21.33 NEP, EDDR1, NTRK4, TRKE P Neuroepithelial tyrosine kinase 600408 A 17(Nep)
6.339 12 3 03 6p21.33 NEU1, NEU, SIAL1 C Neuraminidase 1 (lysosomal sialidase; sialidase 1) 608272 H, F, A Sialidosis, type I, 256550 (3); Sialidosis, type II, 256550 (3) 17(Neu1)
6.340 3 3 03 6p21.33 NFKBIL1 C Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 601022 REn, Fd {Rheumatoid arthritis, susceptibility to}, 180300 (3)
6.341 12 9 91 6p21.1 NFYA P Transcription factor NF-Y, A subunit 189903 REa, A 17(Nfya)
6.342 8 29 91 6p21.3 NKS1, EC1 P Susceptibility to lysis by alloreactive natural killer cells 272370 F 17(Hh1)
6.343 12 11 12 6p21.3 MBNP L Membranous nephropathy, susceptibility to 614692 Fd {?Membranous nephropathy, susceptibility to} (2)
6.344 11 4 98 6p21.32 NOTCH4, INT3 C Notch, Drosophila, homolog of, 4 164951 A, REc
6.345 11 3 09 6p21.3 NPCA2 P Nasopharyngeal carcinoma, susceptibility to, 2 161550 Fd associated with rs2517713 and rs2975042 {Nasopharyngeal carcinoma, susceptibility to, 2} (2)
6.346 7 9 95 6p22.1 OR2H3, OLFR2 P Olfactory receptor, family 2, subfamily H, member 3 (olfactory receptor 2) 600578 RE in class I MHC region
6.347 9 10 09 6p21.3 PBC2 P Biliary cirrhosis, primary, 2 613007 Fd associated with rs2856683 {Biliary cirrhosis, primary, 2} (2)
6.348 9 10 09 6p21.3 PBCA P Pancreatic beta cell, agenesis of 600089 D uniparental disomy ?Diabetes mellitus, insulin-dependent, neonatal (2)
6.349 4 10 00 6p21.3 PBLT P Panbronchiolitis, diffuse 604809 Fd Panbronchiolitis, diffuse (2)
6.350 9 12 96 6p21.32 PBX2, HOX12, G17 P Pre-B-cell leukemia transcription factor-2 176311 A
6.351 4 27 12 6p21.3 PDCOS P Podoconiosis, susceptibility to 614590 Fd {Podoconiosis, susceptibility to} (2)
6.352 5 25 13 6p21.33 PPP1R10, PNUTS P Protein phosphatase 1, regulatory subunit 10 603771 REc
6.353 9 8 11 6p21.33 PRRC2A, BAT2, D6S51E P Proline-rich coiled-coil protein 2A 142580 RE
6.354 4 19 02 6p21.1 PTCRA C Pre-T-cell receptor, alpha-chain precursor 606817 A, REc 17(Ptcra)
6.355 11 20 98 6p21.32 PHF1 P PHD finger protein-1 602881 A
6.356 9 12 93 6p21.33 POU5F1, OTF3, OCT3 C Pou domain, class 5, transcription factor 1 (octamer-binding transcription factor 3) 164177 REa, Fd, A, REn OTF3L on 12; ?related pseudogene on chr.8 17(Otf3)
6.357 2 4 02 6p22.1 PPP1R11, TCTEX5 C Protein phosphatase 1, regulatory subunit 11 606670 REc 17(Ppp1r11)
6.358 4 27 17 6p21.33 PPP1R18, KIAA1949 C Protein phosphatase 1 regulatory subunit 18 610990 REc
6.359 11 19 98 6p21.32 PPT2 P Palmitoyl-protein thioesterase-2 603298 REc
6.360 4 19 12 6p21.32 PSMB8, LMP7, RING10, JMP, NKJO, ALDD C Proteasome subunit, beta type, 8 (large multifunctional protease-7) 177046 REn between TAP1 and TAP2 Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3)
6.361 8 19 98 6p21.32 PSMB9, LMP2, RING12 C Proteasome subunit, beta type, 9 177045 REn just centromeric to TAP1 17(Lmp2)
6.362 3 5 98 6p21.32 RAB2L P RAB2, member RAS oncogene family-like 602306 A
6.363 10 19 88 6p21.33 RDBP P RD RNA-binding protein 154040 REn between C4 and BF 17(rd)
6.364 3 5 98 6p21.32 RING1, RNF1 P RING finger protein-1 602045 REc
6.365 6 10 98 6p21.32 RNF5, RING5 P RING finger protein-5 602677 A, R
6.366 1 2 08 6p21.2 RNF8, KIAA0646 C Ring finger protein 8 611685 R, Psh
6.367 2 28 01 6p22.1 RNF9, RFB30, HERF1 P RING finger protein-9 605701 REc
6.368 4 29 03 6p22.1 RNF39, HZFW, HZF, LIRF P Ring finger protein 39 607524 REc
6.369 12 14 95 6p21.32 RPS18 P Ribosomal protein S18 180473 REn 17(Ke3)
6.370 10 23 87 6p21.3 RWS L Ragweed sensitivity 179450 F ?linkage or association, with HLA ?Ragweed sensitivity (2)
6.371 3 22 93 6p21.32 RXRB C Retinoid X receptor, beta 180246 H, REa, Psh, A 17(Rxrb)
6.372 7 11 12 6p21.31 SCUBE3 P Signal peptide-, CUB domain-, and EGF-like domains-containing protein 3 614708 REc 17(Scube3)
6.373 8 27 15 6p21.33 SEEK1, C6orf16, PSORS1C1 P SEEK1 gene 613525 REc
6.374 8 20 07 6p22.2 SLC17A2, NPT3 P Solute carrier family 17 (sodium phosphate cotransporter), member 2 611049 REc
6.375 2 25 16 6p22.2 SLC17A3, NPT4, UAQTL4, GOUT4 P Solute carrier family 17 (sodium phosphate cotransporter), member 3 611034 REc, Fd [Uric acid concentration, serum, QTL4], 612671 (3); {Gout susceptibility 4}, 612671 (3)
6.376 6 1 04 6p21.32 SLC39A7, D6S2244E, HKE4 C Solute carrier family 39 (zinc transporter), member 7 (Ke4 gene, mouse, homolog of) 601416 REl 17(Ke4)
6.377 8 7 17 6p21.33 SLC44A4, CTL4, C6orf29, DFNA72 P Solute carrier family 44, member 4 606107 REc mutation identified in 1 DFNA72 family ?Deafness, autosomal dominant 72, 617606 (3)
6.378 8 25 04 6p21.31 SPDEF, PDEF P SAM pointed domain-containing ETS transcription factor 608144 REc
6.379 5 25 00 6p21.33 STK19 P Serine/threonine protein kinase 19 604977 REc
6.380 3 7 13 6p21.32 SYNGAP1, MRD5 C Synaptic Ras GTPase activating protein 1 603384 REc Mental retardation, autosomal dominant 5, 612621 (3)
6.381 10 14 05 6p21.32 TAP1, ABCB2, RING4, PSF1 C Transporter 1, ATP-binding cassette, subfamily B 170260 REn ~7kb telomeric to TAP2 Bare lymphocyte syndrome, type I, 604571 (3) 17(Ham1)
6.382 2 10 04 6p21.32 TAP2, ABCB3, PSF2, RING11 C Transporter 2, ATP-binding cassette, subfamily B 170261 REn tel-TAP1-LMP2-LMP1-TAP2-cen Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3); Wegener-like granulomatosis (3) 17(Ham2)
6.383 10 25 02 6p21.32 TAPBP, TPSN P TAP-binding protein (tapasin) 601962 A, REa Bare lymphocyte syndrome, type I, 604571 (3) 17(Tapbp)
6.384 1 1 96 6p21.33 TCF19, SC1 P Transcription factor-19 (SC1) 600912 REc
6.385 8 9 99 6p21.31 TEAD3, TEF5, TEAD5 P TEA domain family member 3 (transcriptional enhancer factor 5) 603170 A, R 17(Tead3)
6.386 6 23 06 6p21.33 TNF, TNFA P Tumor necrosis factor (cachectin) 191160 REa, A, RE 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B {Malaria, cerebral, susceptibility to}, 611162 (3); {Septic shock, susceptibility to} (3); {Asthma, susceptibility to}, 600807 (3); {Dementia, vascular, susceptibility to} (3); {Migraine without aura, susceptibility to}, 157300 (3) 17(Tnfa)
6.387 12 22 17 6p21.33-p21.32 TNXB, TNX, TNXB1, TNXBS, TNXB2, EDSCLL, VUR8 P Tenascin XB 600985 REn Ehlers-Danlos syndrome, classic-like, 606408 (3); Vesicoureteral reflux 8, 615963 (3)
6.388 1 7 16 6p21.33 TUBB, TUBB5, M40, CDCBM6, CSCSC1 C Tubulin, beta polypeptide 191130 REa, D Cortical dysplasia, complex, with other brain malformations 6, 615771 (3); Symmetric circumferential skin creases, congenital, 1, 156610 (3)
6.389 3 28 11 6p21.31 TULP1, RP14, LCA15 C Tubby-like protein-1 602280 Fd, A Retinitis pigmentosa 14, 600132 (3); Leber congenital amaurosis 15, 613843 (3)
6.390 8 20 08 6p22.1 UBD, FAT10 C Ubiquitin D 606050 REc
6.391 12 8 17 6p21.33 VARS, VARS1, G7A, VARS2, NDMSCA P Valyl-tRNA synthetase 192150 REc Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3) 17(Vars2)
6.392 8 5 14 6p21.33 VARS2, KIAA1885, COXPD20 P Valyl-tRNA synthetase 2 612802 REc Combined oxidative phosphorylation deficiency 20, 615917 (3)
6.393 11 19 11 6p21.3 VAMAS6 P Vitiligo-associated multiple autoimmune disease susceptibility 6 193200 Fd possible second locus on 1p31.3-p32.2 {Vitiligo-associated multiple autoimmune disease susceptibility 6} (2)
6.394 7 18 14 6p21.32 VPS52, SACM2L P Vacuolar protein sorting 52 homolog (S. cerevisiae) 603443 REc
6.395 8 27 15 6p21.32 WDR46, BING4 P WD repeat-containing protein 46 611440 REc
6.396 8 25 04 6p21.3 WG P Wegener granulomatosis 608710 Fd Wegener granulomatosis (2)
6.397 2 28 07 6p21.3 WM1 P Macroglobulinemia, Waldenstrom, susceptibility to, 1 153600 Fd linked to HLA {Macroglobulinemia, Waldenstrom, susceptibility to, 1} (2)
6.398 8 27 15 6p21.32 ZBTB22, BING1 P Zinc finger- and BTB domain-containing protein 22 611439 REc
6.399 12 4 95 6p22.1 ZNF173 P Zinc finger protein-173 600830 REn
6.400 10 20 99 6p22.1 ZNF184 P Zinc finger protein-184 602277 REf
6.401 3 5 98 6p22.1 ZNF192 P Zinc finger protein-192 602240 REc
6.402 3 5 98 6p22.1 ZNF193 P Zinc finger protein-193 602246 REc
6.403 11 17 98 6p21.3 ZNF204 P Zinc finger protein-204 603282 A, Psh ?pseudogene
6.404 8 26 98 6p21.31 BAK1 P BCL2-antagonist/killer 1 600516 REa, H, REc centromeric to MHC region 17(bak)
6.405 9 16 88 6p21.3-p21.2 CP20 L Lymphocyte cytosolic protein, molecular weight 20kD 153380 LD
6.406 5 31 05 6p21.31 FKBP5, FKBP51 P FK506-binding protein 5 602623 REc {Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3)
6.407 1 20 11 6p21.2 GLO1 C Glyoxalase I 138750 F, S, Fd ~3cM proximal to HLA 17(Glo1)
6.408 10 23 87 6p21.3-p21.2 LAP L Laryngeal adductor paralysis 150270 F ?linkage to HLA and GLO1 ?Laryngeal adductor paralysis (2)
6.409 12 4 95 6p21.31 MAPK14, CSBP1 P Mitogen-activated protein kinase 14 (cytokine suppressive anti-inflammatory drug binding protein 1) 600289 Psh, A
6.410 5 29 12 6p21.3-p21.2 MPVQTL4 P Mean platelet volume quantitative trait locus 4 614644 Fd associated with rs210134 Mean platelet volume QTL4 (2)
6.411 11 5 92 6p21.31 TCP11, D6S230E P T-complex homolog tcp-11 186982 REa, R, A, REc expressed only in testis at same time as ZNF76 (day 20 after birth) 17(tcp11)
6.412 11 5 92 6p21.31 ZNF76, D6S229E P Zinc finger protein-76 (expressed in testis) 194549 REa, R, A, REc same 300kb fragment as TCP11 17(Znf76)
6.413 10 11 99 6p21.33 LST1, D6S49E, B144 P Leukocyte-specific transcript 1 (B144 protein) 109170 RE, REn 10kb 3' from TNFA
6.414 3 27 90 6p21.1 PGC C Preprogastricsin 169740 REa, F, REb cen-PGG-GLO1-HLA 17(Upg1)
6.415 8 12 91 6p21.1 TCTE1 P T-complex-associated-testis-expressed-1 186975 A, Fd
6.416 3 7 13 6p21.2 AD17 P Alzheimer disease 17 615080 Fd associated with rs75932628T Alzheimer disease 17 (2)
6.417 11 20 15 6p21.2 C6orf89, BRAP, AMFION P Bombesin receptor-activated protein 616642 REc
6.418 2 4 15 6p21.2 CMTR1, MTR1, ISG95, FTSJD2, KIAA0082 C CAP methyltransferase 1 616189 REc, R
6.419 9 10 09 6p21.2 DAAM2, KIAA0381 P Dishevelled-associated activator of morphogenesis 2 606627 R, REc
6.420 11 11 14 6p21.2 FGD2 P FYVE, RhoGEF, and PH domain-containing protein 2 605091 R, H 17(Fgd2)
6.421 7 15 09 6p21.2-p21.1 LRFN2, SALM1, KIAA1246 C Leucine-rich repeat and fibronectin type III domain-containing protein 2 612808 R, REc, H 17(Lrfn2)
6.422 11 23 16 6p21.2 PANDAR C Promoter of CDKN1A antisense DNA damage-activated RNA 617179 REn, REc
6.423 11 6 92 6p21.2 PIM1 C Oncogene PIM1 164960 REa, D, Fd 17(Pim1)
6.424 10 17 95 6p21.2 CDKN1A, WAF1, CIP1, CDKN1 C Cyclin-dependent kinase inhibitor 1A (p21, Cip1) 116899 A 17(Waf1)
6.425 9 7 12 6p21.2 MTCH1, PSAP P Mitochondrial carrier homolog 1 610449 REc, R
6.426 3 29 16 6p21.2 TBC1D22B, C6orf197 P TBC1 domain family, member 22B 616880 REc
6.427 6 2 15 6p21.2 TP53COR1 P Tumor protein p53 pathway corepressor 1, noncoding 616343 REc 17(Tp53cor1)
6.428 12 11 02 6p21.1 TREM2 P Triggering receptor expressed on myeloid cells 2 605086 REa Nasu-Hakola disease, 221770 (3)
6.429 4 30 09 6p12.3 CRISP1, AEGL1 P Cysteine-rich secretory protein 1 601193 A 17(Aeg1)
6.430 1 2 03 6p21.1 GTPBP2 C GTP-binding protein 2 607434 A, R, REc 17(Gtpbp2)
6.431 11 22 02 6p21.2 KCNK16, TALK1 P Potassium channel, subfamily K, member 16 607369 REc
6.432 11 22 02 6p21.2 KCNK17, TASK4, TALK2 C Potassium channel, subfamily K, member 17 607370 REc
6.433 1 16 96 6p12.3 MEP1A C Meprin A, alpha 600388 REa, R, REc, Fd 17(Mep1a)
6.434 9 23 96 6p21.31 PPARD, NUC1 P Peroxisome proliferative activated receptor, delta 600409 Psh, A
6.435 1 29 01 6p21.1 SLC22A7, OAT2 P Solute carrier family 22 (organic anion transporter), member 7 604995 R
6.436 3 5 98 6p21.1 SLC29A1, ENT1 P Solute carrier family 29 (nucleoside transporters), member 1 (equilibrative nucleoside transporter-1) 602193 A
6.437 3 6 14 6p21.2 TDRG1, LINC00532 P Testis development-related gene 1, noncoding 615676 REc
6.438 12 23 05 6p21.1 YIPF3, KLIP1 P YIP1 domain family, member 3 609775 R
6.439 10 18 11 6p12.3 PLA2G7, PAFAH, PAFAD C Phospholipase A2, group VII (platelet-activating factor acetylhydrolase) 601690 A Platelet-activating factor acetylhydrolase deficiency, 614278 (3); {Asthma, susceptibility to}, 600807 (3); {Atopy, susceptibility to}, 147050 (3)
6.440 2 18 96 6p22.1 ZNF165, LD65 C Zinc finger protein-165 600834 REa, A, REc
6.441 8 11 14 6p21.1 AARS2, KIAA1270, MTALARS, COXPD8, LKENP P Alanyl-tRNA synthetase 2 612035 R, REc Combined oxidative phosphorylation deficiency 8, 614096 (3); Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
6.442 12 24 08 6p21.1 ABCC10, MRP7 C ATP-binding cassette, subfamily C, member 10 612509 Psh, R, REc, A
6.443 6 18 99 6p21.1 BYSL P By the ribosomal protein S6 gene, Drosophila, homolog-like (bystin) 603871 A
6.444 4 17 14 6p21.1 CUL7, 3M1 P Cullin 7 609577 REa, Fd 3-M syndrome 1, 273750 (3)
6.445 6 13 12 6p21.1 CUL9, PARC, KIAA0708 P Cullin 9 607489 REc
6.446 6 26 16 6p21.1 ENPP4, NPP4, KIAA0879 C Ectonucleotide pyrophosphatase/phosphodiesterase 4 617000 R, REc
6.447 6 26 16 6p21.1 ENPP5, NPP5 P Ectonucleotide pyrophosphatase/phosphodiesterase 5 617001 REc
6.448 9 15 10 6p21.1 FOXP4 P Forkhead box P4 608924 REc
6.449 4 28 10 6p21.1 GUCA1A, GCAP, COD3, CORD14 P Guanylate cyclase activator 1A, retina 600364 Psh, A Cone dystrophy-3, 602093 (3); Cone-rod dystrophy 14, 602093 (3)
6.450 3 24 11 6p21.1 GUCA1B, GCAP2, GUCA2, RP48 P Guanylate cyclase activator 1B, retina 602275 REa, A Retinitis pigmentosa 48, 613827 (3)
6.451 9 8 08 6p21.1 HSP90AB1, HSPCB, HSPC2, HSP90B C Heas-shock protein, 90kD, alpha, class B, member 1 140572 Psh, REn
6.452 8 19 13 6p21.1 KLHDC3, PEAS P KELCH domain-containing protein 3 611248 REc 17(Klhdc3)
6.453 7 22 09 6p21.1 MED20, TRFP P Mediator complex subunit 20 612915 REc
6.454 12 28 08 6p21.1 NCR2, LY95, NKP44 C Natural cytotoxicity triggering receptor 2 (lymphocyte antigen 95, mouse, homolog of) 604531 REa, REc 17(Ncr2)
6.455 10 18 15 6p21.1 NFKBIE, IKBE P Nuclear factor of kappa light chain gene enhancer in B cells inhibitor, epsilon 604548 REc
6.456 10 26 15 6p21.1 PEX6, PXAAA1, PAF2, PBD4A, PDB4B, HMLR2 C Peroxisomal biogenesis factor 6 (peroxisomal AAA-type ATPase 1) 601498 REa, H, A Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3); Peroxisome biogenesis disorder 4B, 614863 (3); Heimler syndrome 2, 616617 (3) 17(Pxaaa1)
6.457 5 28 99 6p21.2 PPIL1, CYPL1 C Peptidylprolyl isomerase (cyclophilin)-like 1 601301 A, R previously assigned to chr.2
6.458 5 12 15 6p21.1 PPP2R5D, MRD35 P Protein phosphatase-2, regulatory subunit B (B56), delta isoform 601646 A Mental retardation, autosomal dominant 35, 616355 (3)
6.459 11 30 10 6p21.1 PPR1 P Photoparoxysmal response 1 132100 Fd max lod at D6S2427 Photoparoxysmal response 1 (2)
6.460 4 21 17 6p21.1 RPL7L1 P Ribosomal protein L7-like 1 617417 REc
6.461 9 29 10 6p21.1 RRP36, C6orf153 P Ribosomal RNA-processing factor, 36 613475 REc
6.462 3 19 09 6p21.1 RSPH9, CILD12 P Radial spoke head 9, Chlamydomonas, homolog of 612648 REc Ciliary dyskinesia, primary, 12, 612650 (3)
6.463 10 2 12 6p21.1 SRF P Serum response factor 600589 REc
6.464 11 22 13 6p21.1 SUPT3H, SPT3 C Suppressor of Ty 3, S. cerevisiae, homolog of 602947 REc
6.465 8 18 14 6p21.1 TBCC, CFC P Tubulin-specific chaperone C 602971 REc
6.466 3 23 09 6p21.1 TJAP1, PILT, TJP4 P Tight junction-associated protein 1 612658 REc
6.467 1 12 15 6p21.1 TOMM6, TOM6 P Translocase of outer mitochondrial membrane 6, yeast, homolog of 616168 REc
6.468 8 19 13 6p21.1 TRERF1, TREP132 P Transcriptional regulating factor 1 610322 REc, R
6.469 12 28 08 6p21.1 TREM1 P Triggering receptor expressed on myeloid cells 1 605085 REa 17(Trem1)
6.470 12 28 08 6p21.1 TREML1, TLT1 P Triggering receptor expressed on myeloid cells-like protein 1 609714 REc, H 17(Treml1)
6.471 12 28 08 6p21.1 TREML2, TLT2 P Triggering receptor expressed on myeloid cells-like protein 2 609715 REc, H 17(Treml2)
6.472 12 28 08 6p21.1 TREML3, TLT3 P Triggering receptor expressed on myeloid cells-like protein 3 609716 REc, H 17(Treml3)
6.473 4 1 08 6p21.1 UBR2, C6orf133, KIAA0349 C Ubiquitin-protein ligase E3 component N-recognin 2 609134 R, A, H 17(Ubr2)
6.474 4 26 17 6p21.1 UNC5CL, ZUD P Unc5 family C-terminal-like protein 617464 REc
6.475 12 23 05 6p21.1 XPO5, KIAA1291 P Exportin 5 607845 R, REc
6.476 6 12 17 6p21.1 ZNF318, TZF, ZFP318 P Zinc finger protein 318 617512 REc
6.477 11 24 14 6p21.1 CLIC5, DFNB103 P Chloride intracellular channel 5 607293 REc mutation identified in 1 DFNB103 family ?Deafness, autosomal recessive 103, 616042 (3)
6.478 4 23 08 6p21.1 MRPS10 P Mitochondrial ribosomal protein S10 611976 REc 5 pseudogenes on chromosomes 1, 3, and 9
6.479 7 3 06 6p12.3 TFAP2D, TFAP2BL1 P Transcription factor AP2-delta 610161 REc
6.480 2 21 03 6p21.1-p12.2 MGR3 P Migraine with or without aura, susceptibility to, 3 607498 Fd lod 5.78 at D6S452 {Migraine with or without aura, susceptibility to, 3} (2)
6.481 6 25 97 6p21.1 PTK7 C PTK7 protein tyrosine kinase 7 601890 REa, A
6.482 4 19 02 6p12.3 PGK2 C Phosphoglycerate kinase-2 (testicular PGK) 172270 REa, A, REb pseudogene on chr.12 17(Pgk2)
6.483 1 23 01 6p21.1 POLH, XPV C Polymerase, DNA, eta 603968 R, REa, A Xeroderma pigmentosum, variant type, 278750 (3)
6.484 5 7 01 6p12.3 CYP39A1 P Cytochrome P450, subfamily XXXIXA (oxysterol 7-alpha-hydroxylase), polypeptide 1 605994 R 17(Cyp39a1)
6.485 2 25 16 6p12.3 RHAG, RH50A, OHST C Rhesus blood group-associated glycoprotein 180297 REa, A Anemia, hemolytic, Rh-null, regulator type, 268150 (3); Rh-mod syndrome (3); Overhydrated hereditary stomatocytosis, 185000 (3)
6.486 12 26 14 6p21.1 PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1 C Peripherin 2, mouse, homolog of 179605 REa, A digenic RP with ROM1 Retinitis pigmentosa 7 and digenic, 608133 (3); Leber congenital amaurosis 18, 608133 (3); Macular dystrophy, patterned, 1, 169150 (3); Retinitis punctata albescens, 136880 (3); Choroidal dystrophy, central areolar 2, 613105 (3); Macular dystrophy, vitelliform, 3, 608161 (3) 17(rds)
6.487 1 29 01 6p21.1 APOBEC2 P Apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2 604797 R, H 17(Apobec2)
6.488 7 16 09 6p21.2 BTBD9, KIAA1880 P BTB/POZ domain-containing protein 9 611237 REc
6.489 7 12 92 6p21.1 CCND3 C Cyclin D3 123834 REa, A pseudogene also on 6p21
6.490 8 11 98 6p21.1 CDC5L C Cell division cycle 5, S. pombe, homolog-like 602868 REc, A
6.491 10 20 99 6p21.2 CPNE5, CPN5 P Copine V 604209 REc
6.492 9 5 07 6p21.2 DNAH8, HDHC9 P Dynein, axonemal, heavy chain 8 603337 REc
6.493 8 25 04 6p21 EJM3 P Epilepsy, juvenile myoclonic 3 608816 Fd Epilepsy, juvenile myoclonic 3 (2)
6.494 7 22 09 6p21.31 ETV7, TEL2, TELB C ETS variant gene 7 605255 A, REc
6.495 5 9 95 6p21.2 GLP1R P Glucagon-like peptide 1 receptor 138032 A 17(Glp1r)
6.496 5 23 11 6p21.31 HMGA1, HMGIY P High-mobility group AT-hook 1 600701 Psh, R {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
6.497 9 30 02 6p21.31 IHPK3, INSP6K3, IP6K3 P Inositol hexaphosphate kinase 3 606993 REc pseudogene on 6p24.1
6.498 6 18 99 6p21.2 KCNK5, TASK2 P Potassium channel, subfamily K, member 5 603493 R
6.499 4 26 11 6p21.2 KIF6 P Kinesin family member 6 613919 REc
6.500 4 29 02 6p21 LATD L Laterality defects, autosomal dominant 601086 Fd max lod 2.95 at theta = 0
6.501 3 31 09 6p22.1 MAS1L, MRG P MAS1 oncogene-like 607235 REc
6.502 10 4 05 6p21.2 MDGA1, GPIM P MAM domain-containing glycosylphosphatidylinositol anchor 1 609626 REc
6.503 7 6 00 6p21.1 MDFI P MYOD family inhibitor 604971 R 17(Mdfi)
6.504 5 31 05 6p12.3 MUT, MCM C Methylmalonyl Coenzyme A mutase 609058 REa, A, F, D Methylmalonic aciduria, mut(0) type, 251000 (3) 17(Mut)
6.505 12 27 01 6p21.31 PACSIN1, KIAA1379 P Protein kinase C and casein kinase substrate in neurons 1 606512 R
6.506 7 16 09 6p21 RLS6 P Restless legs syndrome, susceptibility to, 6 611185 Fd associated with rs9296249 and rs9357271 {Restless legs syndrome 6} (2)
6.507 1 13 09 6p22.1 RPP21 P Ribonuclease P/MRP, 21kD subunit 612524 REc
6.508 3 15 13 6p21.1 RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD C Runt-related transcription factor 2 600211 A, REc, Ch, Fd Cleidocranial dysplasia, 119600 (3); Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3); Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3); Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3) 17(Cbfa1)
6.509 4 27 12 6p21.33 SKIV2L, SKI2, SKI2W, THES2 P Superkiller viralicidic activity 2, S. cerevisiae, homolog, like 600478 A Trichohepatoenteric syndrome 2, 614602 (3)
6.510 12 19 11 6p21.3-p21.2 SRSF3, SFRS3, SRP20 P Splicing factor, arginine/serine-rich, 3 603364 R, REc 17(Sfrs3)
6.511 9 10 09 6p21.31 STK38, NDR P Serine/threonine protein kinase 38 606964 R, REc
6.512 10 1 95 6p21.1 TFEB, TCFEB L Transcription factor EB 600744 H 17(Tcfeb)
6.513 5 29 12 6p21.1 TREML4, TLT4 P Triggering receptor expressed on myeloid cells-like protein 4 614664 REc 17(Treml4)
6.514 4 20 17 6p12.3 ADGRF1, GPR110 P Adhesion G protein-coupled receptor F1 617430 REc
6.515 9 1 16 6p12.3 ADGRF4, GPR115 P Adhesion G protein-coupled receptor F4 614268 REc
6.516 10 8 07 6p12.3 CENPQ P Centromeric protein Q 611506 REc
6.517 8 21 12 6p12.3 GLYATL3 P Glycine N-acyltransferase-like 3 614763 REc
6.518 4 6 18 6p12.1 ICK, MRK, KIAA0936, ECO, EJM10 P Intestinal cell kinase 612325 R, REc Endocrine-cerebroosteodysplasia, 612651 (3); {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3)
6.519 3 7 14 6p12.3 OPN5, GRP136, PGR12 C Opsin 5 609042 REc
6.520 4 21 16 6p12.3 PTCHD4, PTCH53, C6orf138 P Patched domain-containing protein 4 616908 REc
6.521 9 24 08 6p12.3 RCAN2, ZAKI4, DSCR1L1, MCIP2, CSP2 P Regulator of calcineurin 2 604876 R, REc
6.522 7 8 11 6p12.3 SLC25A27, UCP4 P Solute carrier family 25, member 17 613725 REc
6.523 5 26 13 6p12.3 TDRD6 P TUDOR domain-containing protein 6 611200 REc
6.524 10 29 03 6p12.1 LRRC1, LANO P Leucine-rich repeat-containing protein 1 608195 REc
6.525 8 7 17 6p12.3-p12.2 FCYT, PKHD1, ARPKD, PKD4 C Fibrocystin 606702 Fd, H, REc Polycystic kidney disease 4, with or without hepatic disease, 263200 (3) 13(Pkhd1)
6.526 3 24 06 6p12.1 COL21A1 C Collagen, type XXI, alpha-1 polypeptide 610002 R, REc
6.527 9 9 08 6p12.1 FBXO9, FBX9 P F-box only protein 9 609091 REc 9(Fbxo9)
6.528 3 6 94 6p12.2 GSTA1 C Glutathione S-transferase A1 138359 REn, REc
6.529 12 6 91 6p12.2 GSTA2, GST2 C Glutathione S-transferase A2 138360 A, REa 9(Gsta)
6.530 3 11 03 6p12.2 GSTA3 C Glutathione S-transferase, alpha-3 605449 R, REc
6.531 3 11 03 6p12.2 GSTA4 C Glutathione S-transferase, alpha-4 605450 A, REc
6.532 3 10 03 6p12.2 GSTA5 P Glutathione S-transferase, alpha-5 607605 REc
6.533 11 16 98 6p12.2 IL17A, IL17, CTLA8 P Interleukin-17a 603149 A, REc previously mapped to 2q31 1(Il17)
6.534 12 12 12 6p12.2 LINCMD1 P Long intergenic noncoding RNA, muscle differentiation 1 614933 REc
6.535 3 20 16 6p12.2 TMEM14A P Transmembrane protein 14A 616870 REc
6.536 3 23 09 6p12.2 MIR133B, MIRN133B P Micro RNA 133B 610946 REc
6.537 3 23 09 6p12.2 MIR206, MIRN206 P Micro RNA 206 611599 REc 1(Mirn206)
6.538 8 8 13 6p12.2 TRAM2, KIAA0057 C Translocation-associated membrane protein 2 608485 REc, Psh
6.539 11 19 11 6p12.2-q12 MRT24 P Mental retardation, autosomal recessive 24 614345 Fd between rs651733 and rs1508668 Mental retardation, autosomal recessive 24 (2)
6.540 9 1 09 6p12.1 BMP5 P Bone morphogenetic protein-5 112265 REa, REc
6.541 3 31 15 6p12.1 GCM1, GCMA P Glial cells missing, Drosophila, homolog of, 1 603715 A, REc
6.542 1 30 18 6p12.1 GFRAL, GRAL P GDNF family receptor alpha-like protein 617837 REc
6.543 9 27 17 6p12.1 HCRTR2, OX2R C Hypocretin receptor 2 602393 REc, R
6.544 9 8 11 6p12.1 MLIP, C6orf142 P Muscular LMNA-interating protein 614106 REc
6.545 12 7 04 6p12.2 RN7SK, 7SK P RNA, 7SK small nuclear 606515 REa
6.546 3 25 14 6p12.1 ZNF451, COASTER P Zinc finger protein 451 615708 REc
6.547 3 8 07 6p21.1 SLC35B2, PAPST1, SLL P Solute carrier family 35 (3'-phosphoadenosine 5')-phosphosulfate transporter), member B2 610788 REc
6.548 4 19 12 6p12.2 PAQR8, C6orf33, LMPB1, MPRB P Progestin and ADIPOQ receptor family, member 8 607780 REn
6.549 1 29 01 6p21.1 CAPN11 P Calpain 11 604822 REa, R
6.550 10 28 08 6p12.3 CD2AP, CMS C CD2-associated protein 604241 R, REc Glomerulosclerosis, focal segmental, 3, 607832 (3)
6.551 4 30 09 6p12.3 CRISP2, TPX1, TSP1 P Cysteine-rich secretory protein 2 187430 REa 17(Tpx1)
6.552 5 23 13 6p12.3 DEFB114, DEFB14 P Defensin, beta, 114 615243 REc
6.553 9 20 14 6p12.1 ELOVL5, HELO1, SCA38 P Elongation of very long chain fatty acids-like 5 611805 REc Spinocerebellar ataxia 38, 615957 (3)
6.554 1 6 09 6p12.1 GCLC, GLCLC C Glutamate-cysteine ligase, catalytic subunit 606857 REa, Psh, A, Fd Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3); {Myocardial infarction, susceptibility to}, 608446 (3) 9(Glclc)
6.555 1 24 02 6p21.1 GNMT P Glycine N-methyltransferase 606628 A Glycine N-methyltransferase deficiency, 606664 (3)
6.556 6 22 15 6p12.2 IL17F, ML1, CANDF6 P Interleukin 17F 606496 R mutation identified in 1 CANDF6 family ?Candidiasis, familial, 6, autosomal dominant, 613956 (3)
6.557 2 7 07 6p12.1 KLHL31, KLHL P Kelch-like 31 610749 REc, H 9(Klhl31)
6.558 11 4 98 6p12.2 MCM3 P Minichromosome maintenance, S. cerevisiae, homolog of, 3 602693 A
6.559 4 16 14 6p12 NYS2, NYSA P Nystagmus 2, congenital, autosomal dominant 164100 Fd Nystagmus 2, congenital, autosomal dominant (2)
6.560 7 14 16 6p12.3 TFAP2B, CHAR, PDA2 C Transcription factor AP-2 beta (activating enhancer-binding protein 2 beta) 601601 A, Fd Char syndrome, 169100 (3); Patent ductus arteriosus 2, 617035 (3) 1(Tfap2b)
6.561 2 18 09 6p21.1 VEGF, MVCD1 C Vascular endothelial growth factor 192240 A {Microvascular complications of diabetes 1}, 603933 (3)
6.562 3 3 03 6p12.1 TINAG, TIN1, TIN2 P Tubulointerstitial nephritis antigen 606749 A
6.563 10 1 95 6p11.2 PRIM2A P Primase polypeptide 2A, 58kD 176636 Psh, A 2(Prim2)
6.564 7 30 14 6p12.1 DST, BPAG1, DMH, D6S1101, HSAN6, EBSB2 C Dystonin (bullous pemphigoid antigen 1) 113810 A, REa ?mutation identified in 1 HSAN6 family ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3); Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3) 1(Bpag1)
6.565 10 6 09 6p12.2 EFHC1, FLJ10466, EJM1, JAE, EJA1 C EF hand domain (C-terminal)-containing 1 608815 REc {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3); {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3)
6.566 7 22 13 6p12-q12 CTRCT28, ARCC1 P Cataract 28 609026 Fd {Cataract 28, age-related cortical, susceptibility to} (2)
6.567 5 25 13 6p12.1 BAG2 P BCL2-associated athanogene 2 603882 REc
6.568 10 30 03 6p11 AITD1 P Autoimmune thyroid disease, susceptibility to, 1 608173 Fd {Autoimmune thyroid disease, susceptibility to, 1} (2)
6.569 5 31 07 6p12.1-p11.2 RAB23 C Ras-associated protein RAB23 606144 REc, Fd Carpenter syndrome, 201000 (3)
6.570 10 23 87 6p CSCI L Corticosterone side-chain isomerase 122550 H ?linked to MHC
6.571 3 29 10 6p21.31 RPS10, DBA9 P Ribosomal protein S10 603632 R, RE Diamond-Blackfan anemia 9, 613308 (3)
6.572 4 14 05 6q BPPV P Vertigo, benign paroxysmal positional 193007 Fd max lod at D6S1556 Vestibulopathy, familial (2)
6.573 8 9 99 6q23.2 RPS12 P Ribosomal protein S12 603660 Psh, R
6.574 8 31 10 6q11-q14 DEL6q11q14, C6DELq11q14 P Chromosome 6q11-q14 deletion syndrome 613544 Ch contiguous gene deletion syndrome Chromosome 6q11-q14 deletion syndrome (4)
6.575 5 24 13 6q11.1 KHDRBS2, SLM1 P KH domain-containing, RNA-binding, signal transduction-associated protein 2 610487 REc
6.576 9 30 04 6q12 ADHD3 P Attention deficit-hyperactivity disorder, susceptibility to, 2 608905 Fd {Attention deficit-hyperactivity disorder}, 143465 (2)
6.577 9 1 16 6q12-q13 ADGRB3, BAI3 P Adhesion G protein-coupled receptor B3 602684 A
6.578 9 5 03 6q14.1 COX7A2 P Cytochrome c oxidase, subunit VIIa, polypeptide-2, liver 123996 R previously thought to be on chr.4
6.579 11 20 08 6q12 EYS, RP25 C Eyes shut, Drosophila, homolog of 612424 Fd, REc Retinitis pigmentosa 25, 602772 (3)
6.580 10 23 87 6q14.2 ME1 C Malic enzyme, cytoplasmic 154250 S 9(Mod1)
6.581 6 27 14 6q14.1 PGM3, AGM1, IMD23 C Phosphoglucomutase-3 (N-acetylglucosamine-phosphate mutase 1) 172100 S, F, OT, REa Immunodeficiency 23, 615816 (3) 9(Pgm3)
6.582 5 22 03 6q12 PHF3, KIAA0244 C PHD finger protein 3 607789 A, R
6.583 3 1 01 6q12 PTP4A1, HH72, PRL1 P Protein tyrosine phosphatase, type 4A, 1 601585 A
6.584 12 4 03 6q13 DDX43, HAGE P DEAD/H box 43 606286 R
6.585 10 11 07 6q13 RIMS1, RIM1, RIM, KIAA0340, CORD7 C Regulating synaptic membrane exocytosis 1 606629 R, REc, Fd Cone-rod dystrophy 7, 603649 (3)
6.586 3 2 01 6q13 COL19A1, D6S228E, COL9A1L P Collagen XIX, alpha-1 polypeptide 120165 A, REa 1(Col19a1)
6.587 11 19 11 6q12-q15 MRT30 P Mental retardation, autosomal recessive 30 614342 Fd between rs4612125 and rs285651 Mental retardation, autosomal recessive 30 (2)
6.588 1 30 01 6q12-q16 CMD1K P Cardiomyopathy, dilated, 1K 605582 Fd Cardiomyopathy, dilated, 1K (2)
6.589 5 29 91 6q14.3 CGA C Chorionic gonadotropin, alpha polypeptide 118850 REa, A shared with LH, FSH, TSH 4(Tsha)
6.590 1 11 07 6q13 CD109 P CD109 antigen 608859 REc
6.591 12 8 14 6q13 COL9A1, EDM6, STL4 C Collagen IX, alpha-1 polypeptide 120210 A mutation identified in 1 EDM6 family ?Epiphyseal dysplasia, multiple, 6, 614135 (3); Stickler syndrome, type IV, 614134 (3) 1(Col9a1)
6.592 8 22 07 6q13 DPPA5, ESG1 P Developmental pluripotency-associated gene 5 611111 R, REc
6.593 3 3 03 6q13 GLCATS, KIAA1963 C UDP-glucuronyltransferase S 607497 REc 1(Glcats)
6.594 8 20 92 6q14.1 HTR1B P 5-hydroxytryptamine (serotonin) receptor-1B 182131 REa, A
6.595 1 2 08 6q13 KHDC1 P KH homology domain-containing protein 1 611688 REc 1(Khdc1)
6.596 3 7 13 6q13 KHDC3L, C6orf221, ECAT1, HYDM2 P KH domain containing 3-like, subcortical maternal complex member 611687 REc Hydatidiform mole, recurrent, 2, 614293 (3)
6.597 10 17 12 6q13 LMBRD1, LMBD1, NESI, MAHCF P LMBR1 domain-containing protein 1 612625 REc Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
6.598 4 6 18 6q13 CGAS, MB21D1, C6orf150 P Cyclic GMP-AMP synthase 613973 REc
6.599 3 23 09 6q13 MIR30A, MIRN30A P Micro RNA 30A 612329 REc
6.600 7 18 12 6q13 MTO1, COXPD10 P Mitochondrial translation optimization 1, S. cerevisiae, homolog of 614667 REc Combined oxidative phosphorylation deficiency 10, 614702 (3)
6.601 1 7 11 6q14.1 MYO6, DFNA22, DFNB37 C Myosin VI 600970 A, H, Fd Deafness, autosomal dominant 22, 606346 (3); Deafness, autosomal recessive 37, 607821 (3); Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3) 9(Sv, Myo6)
6.602 1 2 08 6q13 OOEP, KHDC2 P Oocyte-expressed protein, Dog, homolog of 611689 REc 9(Ooep)
6.603 12 28 08 6q14.1 SENP6, SSP1, SUSP1 C Sentrin-specific protease family, member 6 605003 REc, R
6.604 4 21 16 6q13 SMAP1 P Small ADP-ribosylation factor GTPase-activating protein 1 611372 REc
6.605 10 15 04 6q14.1 IBTK P Inhibitor of Bruton agammaglobulinemia tyrosine kinase 606457 R
6.606 4 5 18 6q13-q14 COL12A1, UCMD2, BTHLM2, EDSMYP P Collagen, type XII, alpha-1 120320 REc mutation identified in 1 UCMD2 family ?Ullrich congenital muscular dystrophy 2, 616470 (3); Bethlem myopathy 2, 616471 (3)
6.607 12 30 14 6q14.1 IMPG1, IPM150, VMD4 P Interphotoreceptor matrix proteoglycan-1 602870 Psh, A Macular dystrophy, vitelliform, 4, 616151 (3)
6.608 12 7 07 6q13-q16.1 OTSC7 P Otosclerosis 7 611572 Fd between D6S1036 and D6S300 Otosclerosis 7 (2)
6.609 2 2 01 6q14.1 TTK, MPS1L1, PYT C TTK protein kinase 604092 REa, R
6.610 5 5 09 6q13-q26 SCZD5 P Schizophrenia susceptibility locus, chromosome 6q-related 603175 Fd max lod at D6S1626 and D6S292 {Schizophrenia}, 181500 (2)
6.611 10 30 06 6q14.1 BCKDHB, E1B C Branched chain keto acid dehydrogenase E1, beta polypeptide 248611 REa, A, REc Maple syrup urine disease, type Ib, 248600 (3)
6.612 8 20 98 6q13 EEF1A1, EF1A P Eukaryotic translation elongation factor-1, alpha-1 130590 A, Psh
6.613 7 31 17 6q14.1 ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34 P Elongation of very long chain fatty acids 4 605512 Fd, REc Stargardt disease 3, 600110 (3); Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3); Spinocerebellar ataxia 34, 133190 (3)
6.614 8 4 17 6q13 KCNQ5, MRD46 P Potassium channel, voltage-gated, KQT-like subfamily, member 5 607357 A Mental retardation, autosomal dominant 46, 617601 (3)
6.615 7 20 09 6q14.1 PHIP P Pleckstrin homology domain-interacting protein 612870 R, REc
6.616 8 19 98 6q15 CNR1 P Cannabinoid receptor-1, brain 114610 Fd, A 4(Cnr1)
6.617 3 20 09 6q14.2 CYB5R4, NCB5OR P Cytochrome b5 reductase 4 608343 REc
6.618 10 13 94 6q14.3 HTR1E P 5-hydroxytryptamine (serotonin) receptor-1E 182132 Psh, A
6.619 12 30 99 6q13 SLC17A5, SIASD, SLD C Solute carrier family 17 (sodium phosphate), member 5 604322 Fd, LD, REc Salla disease, 604369 (3); Sialic acid storage disorder, infantile, 269920 (3)
6.620 8 13 91 6q14.1 TPBG P Trophoblast glycoprotein 190920 REa
6.621 12 29 06 6q15 ANKRD6, KIAA0957 P Ankyrin repeat domain-containing protein 6 610583 R, REc
6.622 10 5 07 6q14-q16 ATFB2 P Atrial fibrillation, familial, 2 608988 Fd max lod between D6S286 and D6S1021 Atrial fibrillation, familial, 2 (2)
6.623 6 16 99 6q14-q16.2 PBCRA, CRAPB P Progressive bifocal chorioretinal atrophy 600790 Fd Chorioretinal atrophy, progressive bifocal (2)
6.624 5 22 92 6q15 GABRR1 P Gamma-aminobutyric acid (GABA) A receptor, rho-1 137161 Psh, H 4(Gabbr1)
6.625 5 22 92 6q15 GABRR2 P Gamma-aminobutyric acid (GABA) A receptor, rho-2 137162 Psh, H 4(Gabbr2)
6.626 7 8 11 6q14.3 NT5E, NT5 C 5' nucleotidase, ecto (CD73) 129190 S Calcification of joints and arteries, 211800 (3)
6.627 2 18 16 6q14.1 DOPEY1, DOP1, KIAA1117 P DOPEY family member 1 616823 R, REc
6.628 10 4 16 6q15 MAP3K7, TAK1, CSCF, FMD2 P Mitogen-activated protein kinase kinase kinase 7 602614 Psh, REc Cardiospondylocarpofacial syndrome, 157800 (3); Frontometaphyseal dysplasia 2, 617137 (3)
6.629 9 2 09 6q14.1 FILIP, KIAA1275 C Filamin A-interacting protein 607307 R, REc
6.630 9 10 09 6q14.1 HMGN3, TRIP7 P High-mobility group nucleosomal binding protein 3 (thyroid hormone receptor interactor 7) 604502 R, REc
6.631 9 9 13 6q14.1 IRAK1BP1, SIMPL P Interleukin 1 receptor-associated kinase 1-binding protein 1 615375 REc
6.632 9 10 07 6q14.1 LCA5, C6orf152 P Lebercilin 611408 Fd, REc Leber congenital amaurosis 5, 604537 (3)
6.633 9 24 15 6q14.2 RIPPLY2, C6orf59, SCDO6 P Ripply2, zebrafish, homolog of 609891 REc mutation identified in 1 SCDO6 family ?Spondylocostal dysostosis 6, 616566 (3)
6.634 3 7 14 6q14.1 SH3BGRL2 C SH3 domain-binding glutamic acid-rich protein-like protein 2 615678 REc
6.635 1 9 13 6q14.1 SHFLD2 P Split-hand/foot malformation with long bone deficiency 2 610685 Fd between rs623155 and rs1547251 Split-hand/foot malformation with long bone deficiency 2 (2)
6.636 5 23 13 5q14.1 TBCA P Tubulin-specific chaperone A 610058 REc
6.637 8 20 07 6q14.1 TMEM30A, CDC50A P Transmembrane protein 30A 611028 REc
6.638 12 22 08 6q14.1 UBE2CBP, H10BH P Ubiquitin-conjugating enzyme E2C-binding protein 612495 REc
6.639 4 29 16 6q14.2 MRAP2, C6orf117, BMIQ18 P Melanocortin 2 receptor accessory protein 2 615410 REc mutation identified in 1 BMIQ18 individual {?Obesity, susceptibility to, BMIQ18}, 615457 (3)
6.640 2 25 15 6q14.2 SNAP91, AP180, KIAA0656 P Synaptosomal-associated protein, 91kD 607923 REc, R
6.641 6 4 15 6q14.2-q14.3 CEP162, KIAA1009 P Centrosomal protein, 162kD 610201 R, REc
6.642 5 13 15 6q14.3 SNX14, SCAR20 P Sorting nexin 14 616105 REc Spinocerebellar ataxia, autosomal recessive 20, 616354 (3)
6.643 12 9 15 6q14.3 SYNCRIP, NSAP1, GRYRBP, HNRNPQ P Synaptotagmin-binding cytoplasmic RNA-interacting protein 616686 REc
6.644 12 3 15 6q14.3 TBX18, CAKUT2 P T-box 18 604613 REc Congenital anomalies of kidney and urinary tract 2, 143400 (3)
6.645 2 5 15 6q14.3 ZNF292, ZFP292, KIAA0530 C Zinc finger protein 292 616213 REc, R, H 4(Znf292)
6.646 4 17 13 6q15 AKIRIN2 P Akirin 2 615165 REc
6.647 11 28 01 6q15 BACH2 P BTB and CNC homology 2 605394 A
6.648 8 31 17 3q22.3 STAG1, MRD47 P Stromal antigen 1 604358 REc Mental retardation, autosomal dominant 47, 617635 (3)
6.649 9 1 09 6q15 CASP8AP2, FLASH P Caspase 8-associated protein 2 606880 R, REc
6.650 4 1 08 6q15 GJA10, CX62 P Gap junction protein, alpha-10 611924 REc
6.651 4 1 08 6q14-q15 GJB7, CX25 P Gap junction protein, beta-7 611921 REc
6.652 9 10 09 6q15 ORC3, ORC3L, LAT P Origin recognition complex, subunit 3, S. cerevisiae, homolog of 604972 H, REc 4(Orc3)
6.653 8 18 14 6q15 PM20D2, ACY1L2 P Peptidase M20 domain-containing 2 615913 REc
6.654 3 11 08 6q15 PNRC1, PROL2 P Proline-rich nuclear receptor coactivator 1 606714 R, REc
6.655 7 10 07 6q15 SLC35A1, CST, CDG2F C Solute carrier family 35 (CMP-sialic acid transporter), member 1 605634 R, REc Congenital disorder of glycosylation, type IIf, 603585 (3)
6.656 3 4 10 6q14.3 SNHG5, U50HG P Small nucleolar RNA host gene 5 613263 REc
6.657 11 12 09 6q14.3 SNORD50A, RNU50 P Small nucleolar RNA, C/D box, 50A 613117 REc
6.658 3 4 10 6q14.3 SNORD50B P Small nucleolar RNA, C/D box 613264 REc
6.659 2 4 15 6q15 UBE2J1, UBC6E P Ubiquitin-conjugating enzyme E2J 1 616175 REc
6.660 3 6 08 6q15 RRAGD, RAGD P RAS-related GTP-binding protein D 608268 R, REc
6.661 5 5 09 6q15 SPACA1, SAMP32 P Sperm acrosome-associated 1 612739 REc
6.662 4 22 02 6q16.1 FUT9 P Fucosyltransferase 9 606865 A
6.663 10 7 08 6q16.1 MANEA, ENDO P Mannosidase, endo-alpha 612327 REc
6.664 5 9 95 6q16.1 POU3F2, OCT7 P POU domain, class 3, transcription factor 2 600494 REa, A 4(Pou3f2)
6.665 6 18 99 6q15 RNGTT, HCE1, CAP1A P RNA guanylyltransferase and 5'-phosphatase 603512 RE, R
6.666 8 19 14 6q16.1 EPHA7, HEK11 P Ephrin receptor EphA7 602190 REc
6.667 10 28 08 6q21 MICAL1, NICAL, MICAL P Microtubule-associated monooxygenase, calponin and LIM domains-containing 1 607129 R, REc
6.668 2 2 14 6q16.1 MMS22L, C6orf167 P MMS22-like protein 615614 REc
6.669 7 22 09 6q16.1 NDUFAF4, HRPAP20, C6orf66 C NADH dehydrogenase 1 alpha subcomplex, assembly factor 4 611776 REc, Fd Mitochondrial complex I deficiency, 252010 (3)
6.670 4 22 15 6q16.1 PNKY P Long intergenic noncoding RNA Pinky 616328 REc
6.671 10 15 07 6q15 RARS2, RARSL, PCH6 C Arginyl-tRNA synthetase 2 611524 REc, Fd Pontocerebellar hypoplasia, type 6, 611523 (3)
6.672 2 4 15 6q16.1 UFL1, KIAA0776, NLBP P UFM1-specific ligase 1 613372 R, REc
6.673 11 1 13 6q16.1-q16.2 FBXL4, FBL4, MTDPS13 P F-box and leucine-rich repeat protein 4 605654 REc Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3) 4(Fbxl4)
6.674 2 2 10 6q16.1 FHL5, ACT C Four-and-a-half LIM domains 5 605126 REc, A
6.675 5 13 02 6q16.1 GPR63 P G protein-coupled receptor 63 606915 REc
6.676 3 3 16 6q16.2 DHS6S1, MCDR1 P DNase1 hypersensitivity, chromosome 6, site 1 616842 REn, Fd upstream of PRDM13 and CCNC Macular dystrophy, North Carolina type, 136550 (3)
6.677 11 20 15 6q16.2 PNISR, SRRP130, SFRS18 P PNN-interacting serine/arginine-rich protein 616653 REc
6.678 1 8 16 6q16.2 PRDM13 P PR domain-containing protein 13 616741 REc
6.679 7 18 01 6q16.2 MCHR2, MCH2R, SLT, MCH2 P Melanin-concentrating hormone receptor 2 606111 REc, R, A
6.680 4 23 08 6q16.2-q22.1 LMPH1B P Lymphedema, hereditary, IB 611944 Fd max lod at D6S1671 Lymphedema, hereditary, IB (2)
6.681 9 8 11 6q16.3 ASCC3, p200 P Activating signal cointegrator 1 complex, subunit 3 614217 REc
6.682 4 5 00 6q16.3 SIM1 C Single-minded, Drosophila, homolog of, 1 603128 A, R, Ch Obesity, severe, 601665 (3) 10(Sim1)
6.683 9 11 12 6q16.3-q22.31 GEFSP8 P Generalized epilepsy with febrile seizures plus, type 8 613828 Fd between D6S962 and D6S287 Epilepsy, generalized, with febrile seizures plus, type 8 (2)
6.684 4 26 17 6q21 AFG1L, AFG1, LACE1 C AFG1-like ATPase 617469 REc
6.685 7 11 97 6q21 AIM1, ST4 C Absent in melanoma 1 601797 M, A 10(Aim1)
6.686 9 9 13 6q21 AK9 P Adenylate kinase 9 615358 REc
6.687 7 24 17 6q21 ATG5, APG5, APG5L, ASP, SCAR25 P Autophagy 5, S. cerevisiae, homolog of 604261 A mutation identified in one SCAR25 family ?Spinocerebellar ataxia, autosomal recessive 25, 617584 (3)
6.688 5 19 15 6q21 BEND3, KIAA1553 P BEN domain-containing protein 3 616374 Psh, REc
6.689 4 10 90 6q21 BKMA1 P Banded krait minor satellite DNA-1 109780 A related to heterogametic sex 17(Bkma1)
6.690 2 17 16 6q21 BVES, HBVES, POPDC1, LGMD2X P Blood vessel epicardial substance 604577 REc mutation identified in 1 LGMD2X family ?Muscular dystrophy, limb-girdle, type 2X, 616812 (3)
6.691 7 10 95 6q16.2 CCNC C Cyclin C 123838 A
6.692 9 7 12 6q21 CD24 P CD24 antigen 600074 A, Psh pseudogenes at 15q21-q22; Yq11
6.693 6 2 16 6q21 CD164, DFNA66 P CD164 antigen 603356 REc mutation identified in 1 DFNA66 family ?Deafness, autosomal dominant 66, 616969 (3)
6.694 4 21 16 3q25.1 SUCNR1, GPR91 P Succinate receptor 1 606381 REc
6.695 7 18 12 6q21 CDK19, KIAA1028 P Cyclin-dependent kinase 19 614720 REc, R
6.696 8 8 13 6q21 DDO, DASOX P D-aspartate oxidase 124450 REc
6.697 2 25 16 6q21 FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP P Fig4, S. cerevisiae, homolog of 609390 R, REc, Fd mutation identified in 1 BTOP family Charcot-Marie-Tooth disease, type 4J, 611228 (3); Amyotrophic lateral sclerosis 11, 612577 (3); Yunis-Varon syndrome, 216340 (3); ?Polymicrogyria, bilateral temporooccipital, 612691 (3)
6.698 9 9 08 6q21 FOXO3A, FOXO3, FKHRL1 P Forkhead box O3A 602681 A
6.699 1 4 93 6q21 FYN P FYN oncogene related to SRC, FGR, YES 137025 REa, A proximal 6q21 10(Fyn)
6.700 4 30 15 6q22.1 GOPC, PIST, FIG, CAL C Golgi-associated PDZ and coiled-coil domains-containing protein 606845 REc
6.701 10 15 07 6q16.3 GRIK2, GLUR6, MRT6 C Glutamate receptor, ionotropic, kainate 2 138244 REa, R, Fd Mental retardation, autosomal recessive, 6, 611092 (3)
6.702 2 11 08 6q21 GTF3C6, C6orf51 P General transcription factor 3C, polypeptide 6 611784 REc
6.703 2 5 16 6q16.3 HACE1, KIAA1320, SPPRS P HECT domain- and ankyrin repeat-containing E3 ubiquitin protein ligase 1 610876 REc Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3)
6.704 1 8 01 6q21 HDAC2 C Histone deacetylase 2 605164 Psh, A 10(Hdac2)
6.705 2 13 06 6q22.31 HEY2, HERP1, GRL P Hairy/enhancer of split-related with YRPW motif 2 604674 A, R
6.706 10 4 01 6q21 HTX3 L Heterotaxy, visceral, 3, autosomal 606325 Ch ?Heterotaxy, visceral, 3, autosomal (2)
6.707 12 9 98 6q21 IDDM15 C Insulin-dependent diabetes mellitus-15 601666 Fd {Diabetes mellitus, insulin-dependent, 15} (2)
6.708 5 24 13 6q21 LAMA4, LAMA3, CMD1JJ P Laminin, alpha-4 600133 A, REb Cardiomyopathy, dilated, 1JJ, 615235 (3)
6.709 7 23 09 6q21 LGV2 P Longevity 2 606460 Fd associated with rs2802292 [Longevity 2] (2)
6.710 8 20 07 6q16-q21 LIN28B P Lin28, C. elegans, homolog of, B 611044 REc, H 6(Lin28b)
6.711 1 31 11 6q21 MCOPS8, MMEP P Microphthalmia, syndromic 8 601349 Ch translocation with 13q12 Microphthalmia, syndromic 8 (2)
6.712 7 20 09 6q21 MENAQ2 P Menarche, age at, QTL2 612882 Fd associated with rs7759938 {Menarche, age at, QTL2} (2)
6.713 2 2 17 6q21 MFSD4B, NAGLT1, Kiaa1919 P Major facilitator superfamily domain-containing protein 4B 617331 REc
6.714 5 14 09 6q22.31 NKAIN2, TCBA P Na+/K+ transporting ATPase interacting 2 609758 REc, Ch fused with SUSP1 in T-cell lymphoma/leukemia
6.715 6 4 99 6q21 NR2E1, TLX P Nuclear receptor subfamily 2, group E, member 1 (tailless, Drosophila, homolog of) 603849 REc
6.716 10 3 07 6q21 OSTM1, GL, OPTB5 P Osteopetrosis associated transmembrane protein 1 (grey-lethal, mouse, homolog of) 607649 REc Osteopetrosis, autosomal recessive 5, 259720 (3)
6.717 5 24 12 6q21 PDSS2, DLP1, C6orf210, COQ10D3 C Prenyl diphosphate synthase, subunit 2 610564 REc Coenzyme Q10 deficiency, primary, 3, 614652 (3)
6.718 10 14 09 6q21 POPDC3, POP3 P Popeye domain-containing protein 3 605824 R, REc
6.719 11 23 16 6q21 QRSL1, GATA P Glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like protein 1 617209 REc
6.720 12 27 16 6q21 REV3L, POLZ, REV3 P Rev-3, yeast, homolog-like (polymerase, DNA, zeta) 602776 REn
6.721 1 6 16 6q21 RTN4IP1, NIMP, OPA10 P Reticulon 4-interacting protein 1 610502 REc Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3)
6.722 7 22 16 6q21 SEC63, PCLD2 P Sec63, S. cerevisiae, homolog of 608648 A Polycystic liver disease 2, 617004 (3)
6.723 1 11 07 6q21 SESN1, SEST1, PA26 C Sestrin 1 606103 REa, A, Ch 4(Pa26)
6.724 3 22 07 6q21 SLC22A16, FLIPT2, CT2 C Solute carrier family 22 (organic cation transporter), member 16 608276 REc, A
6.725 7 25 06 6q21 SNX3 C Sorting nexin 3 605930 R, REc, Ch t(6;13)(q21;q12)
6.726 12 16 10 6q21 SOBP, JXC1, MRAMS P Sine oculis-binding protein, Drosophila, homolog of 613667 REc Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
6.727 11 15 13 6q21 TRAF3IP2, C6orf5, ACT1, CIKS, C6orf4, C6orf6, PSORS13, CANDF8 P TRAF3-interacting protein 2 607043 REc mutation identified in 1 family with CANDF8 {Psoriasis susceptibility 13}, 614070 (3); ?Candidiasis, familial, 8, 615527 (3)
6.728 7 22 09 6q21 TUBE1, TUBE P Tubulin, epsilon-1 607345 REc
6.729 3 24 06 6q22.1 VGLL2, VGL2, VITO1 P Vestigial-like 2 609979 REc
6.730 7 1 11 6q21 ZBTB24, PATZ2, ZNF450, KIAA0441, ICF2 C Zinc finger- and BTB domain-containing protein 24 614064 R, REc Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)
6.731 11 20 95 6q21 AMD1 C S-adenosylmethionine decarboxylase-1 180980 REa pseudogene AMD2 on Xq28
6.732 8 18 04 6q21-q22 PLF P Pulmonary function 608852 Fd close to D6S281 {Pulmonary function} (2)
6.733 2 28 03 6q21 SLC16A10, TAT1 P Solute carrier family 16 (monocarboxylic acid transporter), member 10 607550 R, A
6.734 11 13 17 6q21 WASF1, WAVE, WAVE1, SCAR1 C WAS protein family member 1 605035 R, A
6.735 6 12 95 6q21 GPR6 C G protein-coupled receptor-6 600553 A
6.736 6 18 99 6q21 PRDM1, BLIMP1 P PR domain-containing protein 1 (B-lymphocyte-induced maturation protein 1) 603423 REc, Psh 10(Blimp1)
6.737 8 9 99 6q22.1 COL10A1 C Collagen X, alpha-1 polypeptide 120110 REa, A Metaphyseal chondrodysplasia, Schmid type, 156500 (3) 10(Col10a1)
6.738 1 7 02 6q22.1 FRK, RAK, GTK P FYN-related kinase 606573 REc
6.739 8 11 91 6q24.1 NMBR P Neuromedin B receptor 162341 Psh
6.740 11 8 17 6q22.1 DSE, SART2, EDSMC2 P Dermatan sulfate epimerase 605942 REc Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3)
6.741 9 28 00 6q23.2 ENPP3, PDNP3 P Ectonucleotide pyrophosphatase/phosphodiesterase 3 602182 A
6.742 9 10 09 6q22.31 MAN1A1 P Mannosidase, alpha, class 1A, member 1 604344 REc
6.743 12 07 07 6q23.3 MYB C Avian myeloblastosis viral (v-myb) oncogene homolog 189990 REa, A, Ch {T-cell acute lymphoblastic leukemia} (3) 10(Myb)
6.744 2 10 97 6q21 PREP P Prolyl endopeptidase 600400 A
6.745 1 4 93 6q22.1 ROS1, MCF3 C Avian UR2 sarcoma virus oncogene (v-ros) homolog 1 165020 REa, A 10(Ros1)
6.746 2 17 09 6q23.3 BCLAF1, BTF, KIAA0164 P BCL2-associated transcription factor 1 612588 R, REc
6.747 7 2 14 6q23.2 ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED C Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of) 173335 A, H {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3); {Obesity, susceptibility to}, 601665 (3); Arterial calcification, generalized, of infancy, 1, 208000 (3); Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3); Cole disease, 615522 (3) 10(Ly41, Pca1)
6.748 11 3 98 6q23.1-q23.2 EPB41L2 P Erythrocyte membrane protein band 4.1-like 2 603237 A
6.749 3 18 10 6q22.31 FABP7, FABPB, BLBP P Fatty acid-binding protein 7 602965 REc
6.750 1 7 14 6q22-q23 IGAN1 P IgA nephropathy, susceptibility to, 1 161950 Fd {IgA nephropathy, susceptibility to, 1} (2)
6.751 6 11 03 6q22.33 LAMA2, LAMM C Laminin, alpha-2 (merosin) 156225 REa, A, Fd Muscular dystrophy, congenital merosin-deficient, 607855 (3); Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3) 10(dy, Lamm)
6.752 4 17 00 6q22-q23 SM2 P Hepatic fibrosis susceptibility due to Schistosoma mansoni infection 604201 Fd ?polymorphism of INFGR1 {Hepatic fibrosis susceptibility due to Schistosoma mansoni infection} (2)
6.753 10 15 13 6q22.31 TRDN, TDN, CPVT5 P Triadin 603283 A Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
6.754 7 19 04 6q22.1 TSPYL1, TSPYL, SIDDT C Y-encoded testis-specific protein-like 604714 REa, A, H Sudden infant death with dysgenesis of the testes syndrome, 608800 (3) 10(Tspyl)
6.755 8 19 04 6q21 WISP3, PPAC, PPD C Wnt-1 inducible signaling pathway protein 3 603400 R, A, Fd Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3); Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)
6.756 6 7 10 6q22.33 ARHGAP18 P RHO GTPase-activating protein 18 613351 REc
6.757 8 9 05 6q22-q24 FEB5 P Febrile seizures, familial, 5 609255 Fd between D6S1572 and D6S472 Febrile seizures, familial, 5 (2)
6.758 6 27 08 6q22-q24 FIQTL1 P Fasting insulin level quantitative trait locus 1 606035 Fd max lod at D6S1569 [Fasting insulin level quantitative trait locus 1] (2)
6.759 10 18 00 6q23.3 MAP7, EMAP115 L Microtubule-associated protein-7 604108 H 10(Map7)
6.760 9 8 11 6q22.1 BET3L, TRAPPC3L P Bet3, S. cerevisiae, homolog-like 614137 REc
6.761 5 21 03 6q21 CDC40, PRP17 P Cell division cycle 40, S. cerevisiae, homolog of 605585 REn
6.762 1 20 17 6q22.1 FAM26F, INAM P Family with sequence similarity 26, member F 617305 REc
6.763 4 25 14 6q22.1 KPNA5 P Karyopherin alpha-5 604545 REc
6.764 4 11 11 6q22.31 PLN, PLB, CMD1P, CMH18 C Phospholamban 172405 REc, A Cardiomyopathy, dilated, 1P, 609909 (3); Cardiomyopathy, hypertrophic, 18, 613874 (3)
6.765 3 19 09 6q22.1 RSPH4A, CILD11 P Radial spoke head 4, Chlamydomonas, homolog of, A 612647 REc Ciliary dyskinesia, primary, 11, 612649 (3)
6.766 8 17 15 6q22.31 MCM9, MCMDC1, ODG4 P Minichromosome maintenance complex component 9 610098 REc Ovarian dysgenesis 4, 616185 (3) 10(Mcm9)
6.767 8 18 08 6q22.33 RNF146 P Ring finger protein 146 612137 REc
6.768 6 29 94 6q21 MRACKS, MACS, PKCSL C Myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L) 177061 REb, REa monomorphic 10(Macs)
6.769 4 16 14 6q22.1 RFX6, RFXDC1, MTCHRS P Regulatory factor X, 6 612659 REc Mitchell-Riley syndrome, 615710 (3)
6.770 5 26 13 6q22.33 RSPO3, PWTSR, CRISTIN1 P R-spondin family member 3 610574 REc 10(Rspo3)
6.771 5 20 99 6q22.33 PTPRK C Protein-tyrosine phosphatase, receptor type, kappa 602545 REa, A, REc 10(Ptprk)
6.772 4 20 10 6q23.2 C6orf192 P Chromosome 6 open reading frame 192 613361 REc
6.773 8 23 05 6q22.31 HSF2 P Heat-shock transcription factor 2 140581 R, REc
6.774 2 3 05 6q22.31 ASF1A, CIA P Anti-silencing function 1, S. cerevisiae, homolog of, A 609189 REc
6.775 5 11 16 6q22.31 CLVS2 P Clavesin 2 616945 REc
6.776 6 30 05 6q21-q22 HS3ST5, 3OST5 P Heparan sulfate 3-O-sulfotransferase 5 609407 REc
6.777 1 22 18 6q22.1 NUS1, NGBR, C6orf68, CDG1AA, MRD55 P Nuclear undecaprenyl pyrophosphate synthase 1, S. cerevisiae, homolog of 610463 REc mutation identified in 1 CDG1AA family ?Congenital disorder of glycosylation, type 1aa, 617082 (3); Mental retardation, autosomal dominant 55, with seizures, 617831 (3)
6.778 9 10 09 6q22.31 PKIB P Protein kinase, cAMP-dependent catalytic, inhibitor beta 606914 R, REc
6.779 4 2 12 6q22.31 SERINC1, TMS2, KIAA1253 P Serine incorporator 1 614548 REc
6.780 1 29 07 6q22.31 SMPDL3A, ASML3A P Sphingomyelin phosphodiesterase, acid-like, 3A 610728 REc, R
6.781 7 3 14 6q22.31 TBC1D32, BROMI P TBC1 domain family, member 32 615867 REc 10(Tbc1d32)
6.782 5 25 13 6q22.31 TPD52L1, D53 P Tumor protein D52-like 1 604069 REc, A 10(Tdp52l1)
6.783 4 6 13 6q22.32 CEMPW, C6orf173, CUG2 P Centromeric protein W 611264 REc
6.784 8 18 08 6q22.33 ECHDC1 P Enoyl coenzyme A hydratase domain-containing protein 1 612136 REc
6.785 3 24 06 6q22.32 HINT3 P Histidine triad nucleotide-binding protein 3 609998 REc
6.786 6 23 99 6q23.3 MAP3K5, MEKK5, MAPKKK5, ASK1 P Mitogen-activated protein kinase kinase kinase 5 602448 R
6.787 12 23 05 6q22.31-q22.32 NCOA7, ERAP140 P Nuclear receptor coactivator 7 609752 REc
6.788 1 27 11 6q22.33 THEMIS, GASP, SPOT, C6orf190 P Thymocyte-expressed molecule involved in selection 613607 REc 10(Themis)
6.789 11 13 07 6q22.3-q23.1 HBFQTL2, FCP P Fetal hemoglobin quantitative trait locus 2 142470 Fd Fetal hemoglobin quantitative trait locus 2 (2)
6.790 10 9 96 6q25.1 PCMT1 P Protein-L-isoaspartate (D-aspartate) O-methyltransferase 176851 REa, A 10(Pcmt1)
6.791 12 3 03 6q23.2 ARG1 C Arginase, liver 608313 REa Argininemia, 207800 (3)
6.792 4 4 11 6q23 CMD1F, CDCD3, LGMD1D P Cardiomyopathy, dilated-1F, autosomal dominant 602067 Fd Cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D (2)
6.793 4 25 05 6q23.2 EYA4, DFNA10, CMD1J C Eyes absent, Drosophila, homolog of, 4 603550 R, Fd, A Deafness, autosomal dominant 10, 601316 (3); Cardiomyopathy, dilated, 1J, 605362 (3)
6.794 3 15 10 6q23 HCHGQ1 P Hematocrit/hemoglobin quantitative trait locus 1 609319 Fd [Hematocrit/hemoglobin quantitative trait locus 1] (2)
6.795 3 19 01 6q23.3 IL20RA P Interleukin 20 receptor, alpha 605620 REc
6.796 2 25 12 6q23 RP63 P Retinitis pigmentosa 63 614494 Fd between D6S457 and D6S1656 Retinitis pigmentosa 63 (2)
6.797 1 31 08 6q23 RA P Rheumatoid arthritis, susceptibility to 180300 REc associated with SNP rs10499194 and rs6920220 {Rheumatoid arthritis, susceptibility to} (2)
6.798 1 13 99 6q23.2 SGK1 P Serum/glucocorticoid-regulated kinase 1 602958 A
6.799 10 30 08 6q23 SLEB13 P Systemic lupus erythematosus, susceptibility to, 13 612378 Fd associated with rs5029939 {Systemic lupus erythematosus, susceptibility to, 13} (2)
6.800 7 13 98 6q22.31 STL P Six-twelve leukemia gene 602532 REc
6.801 1 13 16 6q23.3 TNFAIP3, A20, OTUD7C, AISBL P Tumor necrosis factor-alpha-induced protein 3 191163 REc Autoinflammatory syndrome, familial, Behcet-like, 616744 (3)
6.802 6 17 16 6q24.2 HIVEP2, MRD43 P Human immunodeficiency virus type I enhancer-binding protein-2 143054 REa, A Mental retardation, autosomal dominant 43, 616977 (3)
6.803 5 2 08 6q23-q24 MAFD6, BPAD P Major affective disorder 6 611536 Fd {Major affective disorder 6} (2)
6.804 3 5 98 6q23-q24 NTT P Noncoding transcript in T cells 602154 A
6.805 12 21 09 6q23.3 PBOV1, UROC28, UC28 P Prostate and breast cancer overexpressed 1 605669 A
6.806 11 23 98 6q23.2 TCF21, POD1 L Transcription factor-21 (epicardin; podocyte-expressed 1) 603306 H 10(Tcf21)
6.807 12 17 07 6q23.2 VNN1, HDLCQ8 C Vanin 1 603570 A, H, Psh [High density lipoprotein cholesterol level QTL 8] (3) 10(Vnn1)
6.808 6 18 99 6q23.2 VNN2 C Vanin 2 603571 A, Psh, REc
6.809 2 20 02 6q23.2 VNN3 P Vanin 3 606592 REc 10(Vnn3)
6.810 4 27 12 6q23-q24.1 SPG25 P Spastic paraplegia 25, autosomal recessive, with disc herniation 608220 Fd Spastic paraplegia 25, autosomal recessive (2)
6.811 10 08 08 6q23-q25 BMIQ3 P Body mass index quantitative trait locus 3 607446 Fd max lod at D6S305 [Body mass index QTL3] (2)
6.812 9 22 04 6q23-q25 LNCR1 P Lung cancer 1 608935 Fd max hlod at D6S2436 {Lung cancer susceptibility} (2)
6.813 7 11 93 6q23.2 CTGF, NOV2 P Connective tissue growth factor 121009 REa, A proximal to MYB
6.814 7 1 05 6q23.2 TAAR1, TA1 C Trace amine-associated receptor 1 609333 R, REc 10(Taar1)
6.815 11 2 04 6q23.2 MOXD1, MOX P Monooxygenase, DBH-like, 1 609000 R, REc
6.816 3 27 18 6q24.1 REPS1, NBIA7 P RALBP1-associated EPS domain-containing protein 1 614825 REc mutation identified in 1 NBIA7 family ?Neurodegeneration with brain iron accumulation 7, 617916 (3)
6.817 9 1 09 6q23.3 ALDH8A1, ALDH12 P Aldehyde dehydrogenase 8 family, member A1 606467 R, REc
6.818 5 28 02 6q23.2 GPR102, TA5 C G protein-coupled receptor 102 606927 REc, R
6.819 9 26 11 6q23.2 MED23, MRT18 P Mediator complex subunit 23 605042 REc Mental retardation, autosomal recessive 18, 614249 (3)
6.820 2 28 03 6q23.2 PNR C Putative neurotransmitter receptor 607405 A, REc
6.821 8 19 13 6q23.2 SLC2A12, GLUT12 P Solute carrier family 2 (facilitated glucose transporter), member 12 610372 REc, R 10(Slc2a12)
6.822 9 22 04 6q23.2 STX7 C Syntaxin 7 603217 REa, REc
6.823 12 5 03 6q23.2 TAR3, TA3 P Trace amine receptor 3 608282 R
6.824 10 24 14 6q23.2 TARID P TCF21 antisense RNA inducing promoter demethylation 616058 REc
6.825 5 5 09 6q23.2 TAAR6, TRAR4 P Trace amine-associated receptor 6 608923 REc
6.826 9 15 04 6q23.3 AHI1 C Abelson helper integration site 1 608894 Fd, REc, R Joubert syndrome 3, 608629 (3)
6.827 1 18 12 6q24.1 CITED2, MRG1, P35SRJ, VSD2, ASD8 P CBP/p300-interacting transactivator, with glu/asp-rich C-terminal domain, 2 602937 REc ?pseudogene on 1q22 Ventricular septal defect 2, 614431 (3); Atrial septal defect 8, 614433 (3)
6.828 9 22 14 6q23.3 IFNGR1, IMD27A, IMD27B C Immune interferon, receptor for 107470 S, A, Fd, REc Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3); {H. pylori infection, susceptibility to}, 600263 (3); {Tuberculosis, susceptibility to}, 607948 (3); Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3); {Tuberculosis infection, protection against}, 607948 (3); {Hepatitis B virus infection, susceptibility to}, 610424 (3) 10(Ifgr)
6.829 5 29 12 6q23.3 MPVQTL5 P Mean platelet volume quantitative trait locus 5 614645 Fd associated with rs9399137 Mean platelet volume QTL5 (2)
6.830 7 1 05 6q23.3 OLIG3, BHLHB7 P Oligodendrocyte lineage transcription factor 3 609323 REc
6.831 7 17 14 6q23.3 PDE7B P Phosphodiesterase 7B, cAMP-specific, high-affinity 604645 REc
6.832 12 6 16 6q23.3 PERP P p53 effector related to PMP22 609301 REc
6.833 1 11 16 6q23.3 PEX7, RCDP1, PBD9B P Peroxisomal biogenesis factor-7 601757 REa, R, REc Rhizomelic chondrodysplasia punctata, type 1, 215100 (3); Peroxisome biogenesis disorder 9B, 614879 (3)
6.834 1 7 09 6q23.3 SLC35D3 P Solute carrier family 35, member D3 612519 REc, H 10(Slc35d3)
6.835 3 28 17 6q23.3-q24.1 ARFGEF3, BIG3, KIAA1244 P ADP-ribosylation factor guanine nucleotide exchange factor 3 617411 REc
6.836 8 27 01 6q24.1 C6orf34, SOUL P Soul, chicken, homolog of 605825 REc
6.837 2 27 03 6q24.3 EPM2A, MELF, EPM2 C Laforin 607566 Fd Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
6.838 9 9 08 6q24.3 FBXO30, FBX30 P F-box only protein 30 609101 REc 10(Fbxo30)
6.839 9 18 17 6q24.3 GRM1, MGLUR1, GRM1A, SCAR13, SCA44 C Glutamate receptor, metabotropic, 1 604473 REa, A Spinocerebellar ataxia, autosomal recessive 13, 614831 (3); Spinocerebellar ataxia 44, 617691 (3)
6.840 12 24 08 6q23.3 HBS1L, KIAA1038, ERFS P HBS1-like protein 612450 REc
6.841 11 15 08 6q24.2 HYMAI C Hydatidiform mole-associated and imprinted transcript 606546 REc, Ch, Fd
6.842 2 28 03 6q24.2 PLAGL1, ZAC, LOT1 C Pleomorphic adenoma gene-like 1 (ZAC tumor suppressor) 603044 A, REc, Ch, Fd relaxed imprinting in TNDM {Diabetes mellitus, transient neonatal}, 601410 (1) 10(Zac)
6.843 3 13 06 6q24.2 STX11, FHL4, HPLH4, HLH4 C Syntaxin-11 605014 Fd, REc Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)
6.844 4 26 05 6q23.2 TAAR2, GPR58 P Trace amine-associated receptor 2 604849 A
6.845 7 8 96 6q24.2 UTRN, DMDL, DRP1 C Utrophin (homologous to dystrophin) 128240 REa, F, Fd, A near dy in mouse 10(Dmdl)
6.846 9 30 10 6q24-q25 DEL6q24q25, C6DELq25q25 P Chromosome 6q24-q25 deletion syndrome 612863 Ch Chromosome 6q25-q25 deletion syndrome (4)
6.847 9 29 09 6q25.1 IYD, DEHAL1, TDH4 P Iodotyrosine deiodinase 612025 REc Thyroid dyshormonogenesis 4, 274800 (3)
6.848 10 8 09 6q25.2 OPRM1 C Opioid receptor, mu-1 600018 A 10(Oprm)
6.849 3 10 03 6q25.1 PPIL4 P Peptidyl-prolyl isomerase-like 4 607609 REc, Psh
6.850 2 17 09 6q24-q25 STQTL1 C Stature quantitative trait locus 1 606255 Fd associated with rs4896582 and rs3748069 {Stature QTL 1} (2)
6.851 8 28 92 6q25.3 MAS1 C Oncogene MAS1 165180 A, REa 17(Mas1)
6.852 4 17 07 6q24.1-q24.2 C6orf55, SBP1, LIP5, VTA1, DRG1 P SKD1-binding protein 1 610902 R, REc
6.853 8 2 13 6q24.1 CCDC28A, C6orf80 P Coiled-coil domain-containing 28A 615353 REc
6.854 8 31 16 6q24.2 ADGRG6, PR126, VIGR, LCCS9 C Adhesion G protein-coupled receptor G6 612243 REc, H Lethal congenital contracture syndrome 9, 616503 (3) 10(Gpr126)
6.855 2 25 15 6q24.1 HECA, HDC P Headcase, Drosophila, homolog of 607977 REc
6.856 1 30 02 6q23.3 IL22BP, IL22RA2 C Interleukin 22-binding protein 606648 REc, R
6.857 9 9 13 6q24.2 ADAT2, TAD2 P Adenosine deaminase, tRNA-specific, 2 615388 REc
6.858 2 24 12 6q24.2 FUCA2 C Fucosidase, alpha-L- 2, plasma 136820 F linked to PLG
6.859 3 9 17 6q24.2 PEX3, PBD10A, PBD10B C Peroxisomal biogenesis factor-3 603164 REc, A mutation identified in 1 PBD10B patient Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3); ?Peroxisome biogenesis disorder 10B, 617370 (3)
6.860 7 16 12 6q24.2 PHACTR2, KIAA0680 P Phosphatase and actin regulator 2 608724 R, REc
6.861 1 24 18 6q24.2 SF3B5, SF3B10 P Splicing factor 3B, subunit 5 617847 REc
6.862 5 5 09 6q24.2-q25.2 DUH1, DUH P Dyschromatosis universalis hereditaria 1 127500 Fd max lod at D6S1553 Dyschromatosis universalis hereditaria 1 (2)
6.863 8 20 07 6q25.1 RAET1L P Retinoic acid early transcript 1L 611047 REc
6.864 6 1 12 6q24.3 ADGB P Androglobin 614630 REc
6.865 12 5 03 6q25.1 NUP43 P Nucleoporin, 43kD 608141 R, REc
6.866 2 21 10 6q25.1 PPP1R14C, KEPI P Protein phosphatase 1, regulatory subunit 14C 613242 REc
6.867 7 22 09 6q24.3 RAB32 C Ras-associated protein RAB32 612906 REc
6.868 2 26 09 6q24.3-q25.1 SASH1, KIAA0790 C Sterile alpha motifs- and SH3 domain-containing protein 1 607955 R, REc
6.869 8 24 04 6q24.3 STXBP5 P Syntaxin-binding protein 5 (tomosyn) 604586 R, REc
6.870 6 30 08 6q25 BMND11 P Bone mineral density quantitative trait locus 11 612114 Fd associated with rs4870044, rs1038304, and rs1999805 [Bone mineral density QTL 11] (2)
6.871 3 23 06 6q25.3 FNDC1, AGS8, KIAA1866 P Fibronectin type III domain-containing protein 1 609991 R, REc
6.872 1 7 09 6q25 IDDM21 P Diabetes mellitus, insulin-dependent, 21 612521 Fd associated with rs1738074 {Diabetes mellitus, insulin-dependent, 21} (2)
6.873 2 12 16 6q25.2 MYCT1, MTLC P MYC target in myeloid cells 1 616805 REc
6.874 11 12 12 6q25.1 RMND1, COXPD11 P Required for meiotic nuclear division 1, S. cerevisiae, homolog of 614917 REc Combined oxidative phosphorylation deficiency 11, 614922 (3)
6.875 11 20 13 6q25.2 SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4 C Spectrin repeat-containing nuclear envelope protein 1 (nesprin 1) 608441 A, Fd, REc Spinocerebellar ataxia, autosomal recessive 8, 610743 (3); Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)
6.876 5 31 05 6q25.1 SUMO4, IDDM5 C Small ubiquitin-like modifier 4 608829 Fd, REc {Diabetes mellitus, insulin-dependent, 5}, 600320 (3)
6.877 1 11 16 6q25.1 TAB2, MAP3K7IP2, KIAA0733, CHTD2 P Tak1 (MAP3K7) binding protein 2 605101 R, REc Congenital heart defects, nonsyndromic, 2, 614980 (3)
6.878 9 10 09 6q25.3 TFB1M, CGI75 P Transcription factor B1, mitochondrial 607033 R, REc
6.879 2 28 01 6q25.1 ULBP1 P UL16-binding protein 1 605697 REn
6.880 2 28 01 6q25.1 ULBP2 P UL16-binding protein 2 605698 REn
6.881 2 28 01 6q25.1 ULBP3 P UL16-binding protein 3 605699 REn
6.882 9 9 08 6q25.2 FBXO5, FBX5, EMI1 P F-box only protein 5 606013 A, H 10(Fbxo5)
6.883 12 29 89 6q25-q26 RCD1 L Retinal cone dystrophy-1 180020 Ch ?Retinal cone dystrophy-1 (2)
6.884 12 9 98 6q25-q27 IDDM8 P Insulin-dependent diabetes mellitus-8 600883 Fd {Diabetes mellitus, insulin-dependent, 8} (2)
6.885 1 29 04 6q26 PACRG P Parkin coregulated gene 608427 REc shares 5' regulatory region and both 3' UTRs with PARK2 17(Pacrg)
6.886 4 28 16 6q25.3 ARID1B, BAF250B, KIAA1235, MRD12, CSS1 C AT-rich interaction domain-containing protein 1B 614556 R, REc Coffin-Siris syndrome 1, 135900 (3)
6.887 4 30 15 6q25.1 ARMT1, C6orf211 P Acidic residue methyltransferase 1 616332 REc
6.888 8 19 13 6q25.1-q25.2 ESR1, ESR, ESTRR C Estrogen receptor 1 133430 REa, A Estrogen resistance, 615363 (3); {HDL response to hormone replacement, augmented} (3); {Migraine, susceptibility to}, 157300 (3); {Atherosclerosis, susceptibility to} (3); {Myocardial infarction, susceptibility to}, 608446 (3); {Breast cancer}, 114480 (1) 10(Esr)
6.889 9 10 09 6q25.1 KATNA1 P Katanin, p60 subunit, A1 606696 R, REc
6.890 7 19 12 6q25.1 LATS1 P Large tumor suppressor, Drosophila, homolog of, 1 603473 REc
6.891 9 10 09 6q25.3 NOX3 P NADPH oxidase 3 607105 REc
6.892 2 12 07 6q25.1 UST P Uronyl 2-sulfotransferase 610752 R, REc
6.893 6 13 07 6q25.1 ZC3H12D, p34, C6orf95 P Zinc finger CCCH domain-containing protein 12D 611106 REc
6.894 10 23 15 6q25.1 ZBTB2, ZNF437, KIAA1483 P Zinc finger- and BTB domain-containing protein 2 616595 REc
6.895 5 10 17 6q25.2 CNKSR3, CNK3 P CNKSR family, member 3 617476 REc
6.896 2 3 14 6q25.1 MTHFD1L, MTC1THFS P Methylenetetrahydrofolate dehydrogenase 1-like, NADP(+)-dependent 611427 REc
6.897 9 30 14 6q25.2 SCAF8, KIAA1116 P SR-related C-terminal domain-associated factor 8 616024 R, REc
6.898 8 28 97 6q25.3 TCTEL1 P T-complex-associated-testis-expressed 1-like 1 601554 A
6.899 10 2 12 6q25.2-q25.3 TIAM2 P T-cell lymphoma invasion and metastasis 2 604709 REc
6.900 1 29 04 6q26 PRKN, PARK2, PDJ, LPRS2 C Parkin 602544 Fd, D shares 5' regulatory region and both 3' UTRs with PACRG Parkinson disease, juvenile, type 2, 600116 (3); Adenocarcinoma of lung, somatic, 211980 (3); Adenocarcinoma, ovarian, somatic, 167000 (3); {Leprosy, susceptibility to}, 607572 (3) 17(Park2)
6.901 5 28 08 6q25.3 CELIAC12 P Celiac disease, susceptibility to, 12 612010 Fd in LD block containing TAGAP {Celiac disease, susceptibility to, 12} (2)
6.902 4 6 15 6q25.3 EZR, VIL2, CVL C Ezrin 123900 REa, A coamplified with MYB
6.903 6 2 15 6q25.3 GTF2H5, TTD3, TFB5, C6orf175, TTDA C General transcription factor IIH, polypeptide 5 608780 REc, REn Trichothiodystrophy 3, photosensitive, 616395 (3)
6.904 2 28 08 6q25.3 MRPL18 P Mitochondrial ribosomal protein L18 611831 REc
6.905 7 25 14 6q25.3 RSPH3, RSHL2, RSP3, CILD32 P Radial spoke head 3, Chlamydomonas, homolog of 615876 REc Ciliary dyskinesia, primary, 32, 616481 (3)
6.906 7 25 12 6q25.3 SERAC1, MEGDEL P Serine active site-containing protein 1 614725 REc 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
6.907 7 9 09 6q25.3 SOD2, MNSOD, MVCD6 C Superoxide dismutase-2, mitochondrial 147460 S, D, REa, A {Microvascular complications of diabetes 6}, 612634 (3) 17(Sod2)
6.908 6 30 05 6q25.3 SYNJ2, KIAA0348 P Synaptojanin 2 609410 R, H 17(Synj2)
6.909 12 28 08 6q25.3 TAGAP P T-cell activation GTPase-activating protein 609667 R, REc
6.910 2 18 10 6q25.3 TMEM181, GPR178, KIAA1423 P Transmembrane protein 181 613209 REc
6.911 12 10 15 6q25.3 WTAP C Wilms tumor 1-associating protein 605442 REa, A 17(Wtap)
6.912 9 28 96 6q25.3 ACAT2 P Acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) 100678 A encoded on strand opposite TCP1 ?ACAT2 deficiency, 614055 (1)
6.913 9 28 96 6q25.3 TCP1 C T-complex locus TCP-1 186980 REa, H, A, Fd, REn tightly linked to PLG; ~15cM proximal to TCP10; overlap with ACAT2 17(Tcp1)
6.914 9 2 12 6q26 AGPAT4 P 1-acylglycerol-3-phosphate O-acyltransferase 4 614795 REc
6.915 3 3 10 6q25.3 AIRN, AIR P Antisense IGF2R RNA, noncoding 604893 REc 17(Airn)
6.916 9 20 14 6q26 CAHM, LINC00468 P Colorectal adenocarcinoma hypermethylated gene, noncoding 615930 REc
6.917 12 5 13 6q25.3 IGF2R, MPRI C Insulin-like growth factor-2 receptor (mannose-6-phosphate receptor, cation-independent) 147280 REa, A behaves as a tumor suppressor Hepatocellular carcinoma, somatic, 114550 (3) 17(Igf2r)
6.918 9 10 09 6q26 MAP3K4, MEKK4, MTK1, MAPKKK4 P Mitogen-activated protein kinase kinase kinase 4 602425 REa, REc
6.919 9 4 14 6q26 PLG C Plasminogen 173350 REa, A, LD, F 20cM from TCP10A Dysplasminogenemia, 217090 (3); Plasminogen deficiency, type I, 217090 (3) 17(Plg)
6.920 8 23 12 6q26 QKI, QK1 P Quaking, mouse, homolog of 609590 REc
6.921 6 9 98 6q25.3 SLC22A1, OCT1 P Solute carrier family 22 (organic cation transporter), member 1 602607 Psh, A
6.922 6 9 98 6q25.3 SLC22A2, OCT2 P Solute carrier family 22 (organic cation transporter), member 2 602608 Psh, A 17(Slc22a2)
6.923 1 27 04 6q26-q27 DFNB38 P Deafness, autosomal recessive 38 608219 Fd Deafness, autosomal recessive 38 (2)
6.924 9 24 08 6q27 FAM120B, PGCC1, CCPG, KIAA1838 P Family with sequence similarity 120, member B 612266 REc 17(Fam120b)
6.925 12 17 07 6q25.3 LPAL2, APOARGC P Lipoprotein(a)-like 2 611682 REc
6.926 11 19 11 6q26-q27 MRT28 P Mental retardation, autosomal recessive 28 614347 Fd between rs6935718 and rs3886091 Mental retardation, autosomal recessive 28 (2)
6.927 11 22 88 6q25.2 VIP C Vasoactive intestinal peptide 192320 REa, A, REb
6.928 9 10 09 6q25.3 SNX9, SH3PX1 P Sorting nexin 9 605952 R, REc
6.929 5 8 17 6q27 AFDN, MLLT4, AF6 C Afadin 159559 Ch, A
6.930 7 26 12 6q27 BRP44L, MPC1, MPYCD P Brain protein 44-like 614738 REc Mitochondrial pyruvate carrier deficiency, 614741 (3)
6.931 6 26 16 6q27 C6orf120 P Chromosome 6 open reading frame 120 616987 REc
6.932 9 9 08 6q27 CCR6, CMKBR6, CKRL3, GPR29, GPRCY4 P Chemokine (C-C) receptor 6 601835 REa
6.933 7 22 16 6q27 CHDM P Chordoma 215400 Fd, Ch associated with duplication of the T gene {Chordoma, susceptibility to} (4)
6.934 9 10 09 6q27 DACT2, DPR2, DAPPER2 P Dapper, antagonist of beta-catenin, 2 608966 REc
6.935 11 27 13 6q27 ERMARD, C6orf70, PVNH6 P Endoplasmic reticulum membrane-associated RNA degradation protein 615532 REc ?Periventricular nodular heterotopia 6, 615544 (3)
6.936 5 21 03 6q27 FGFR1OP, FOP P Fibroblast growth factor receptor-1 oncogene partner 605392 REc fusion gene with ZNF198, CEP1, and FGFR1 Myeloproliferative disorder (2)
6.937 3 5 98 6q27 GPR31 P G protein-coupled receptor-31 602043 A
6.938 3 8 16 6q27 HPAT5 P Human pluripotency-associated transcript 5, noncoding 616837 REc
6.939 2 14 13 6q27 KAZA3 P Kala-azar, susceptibility to, 3 611382 Fd {Kala-azar, susceptibility to, 3} (2)
6.940 3 22 06 6q27 KIF25, KNSL3 P Kinesin family member 25 603815 A
6.941 5 22 03 6q25-q26 LPA C Apolipoprotein Lp(a) 152200 REa, A, F, Fd absent in mice {Coronary artery disease, susceptibility to} (1); [LPA deficiency, congenital] (3)
6.942 12 14 95 6q27 PDCD2 C Programmed cell death 2 600866 A, H 17(Pdcd2)
6.943 5 2 16 6q27 PDE10A, IOLOD, ADSD2 C Phosphodiesterase 10A 610652 A, REc Dyskinesia, limb and orofacial, infantile-onset, 616921 (3); Striatal degeneration, autosomal dominant, 616922 (3)
6.944 10 13 09 6q27 PHF10, BAF45A P PHD finger protein 10 613069 REc
6.945 6 9 06 6q27 PSMB1 P Proteasome subunit, beta type, 1 602017 REc incorrectly assigned to 7p
6.946 8 24 09 6q27 RNASET2, RNASE6PL P Ribonuclease T2 612944 REc Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
6.947 12 9 98 6q27 RPS6KA2, RSK3 P Ribosomal protein S6 kinase, 90kD, 2 601685 REa, A
6.948 10 17 00 6q25.3 SLC22A3, EMT C Solute carrier family 22 (extraneuronal monoamine transporter), member 3 604842 A, REc 17(Slc22a3)
6.949 1 26 12 6q27 SMOC2, SMAP2, DTDP1 P Secreted modular calcium-binding protein 2 607223 R, REc Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3)
6.950 4 29 14 6q27 T, TFT, SAVA P Brachyury, mouse, homolog of 601397 A, Fd {Neural tube defects, susceptibility to}, 182940 (3); Sacral agenesis with vertebral anomalies, 615709 (3) 17(T)
6.951 11 15 10 6q27 TBP, SCA17, HDL4 C TATA box binding protein 600075 REa, A, Fd Spinocerebellar ataxia 17, 607136 (3); {Parkinson disease, susceptibility to}, 168600 (3) 17(Tbp)
6.952 8 21 92 6q27 TCTE3 P T-complex-associated-testis-expressed-3 186977 REa, A
6.953 6 26 08 6q27 THBS2 C Thrombospondin 2 188061 REa, A {Lumbar disc herniation, susceptibility to}, 603932 (3) 17(Thbs2)
6.954 8 28 92 6q27 TCP10 C T-complex 10 (a murine tcp homolog) 187020 Fd 17(Tcp10)
6.955 1 12 07 6q27 UNC93A P UNC93, C. elegans, homolog of, A 607995 REc
6.956 9 10 09 Chr.6 BEVI C Baboon M7 virus replication 109180 S
6.957 10 23 87 Chr.6 FEA L F9 embryonic antigen 137010 H
6.958 9 10 09 Chr.6 LAKLG, LAKL P Lymphokine-activated killer cell ligand 153435 S
6.959 10 23 87 Chr.6 MRBC P Monkey RBC receptor 158050 S
6.960 10 23 87 Chr.6 TS546 P Temperature sensitivity complementation, cell cycle specific, ts546 cells 187330 S
7.1 9 12 93 7p22.3 PRKAR1B P Protein kinase, cAMP-dependent, regulatory, type I, beta 176911 Fd
7.2 4 17 13 7p22.3 AMZ1, KIAA1950 P Archaelysin family metallopeptidase 1 615168 REc
7.3 3 29 12 7p22.3 BRAT1, BAAT1, C7orf27, RMFSL P BRCA1-associated ATM activator 1 614506 REc Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
7.4 5 10 04 7p22.3 CENTA1 P Centaurin, alpha-1 608114 REc
7.5 3 19 13 7p22.3 COX19 P Cytochrome c oxidase assembly protein Cox19 610429 REc
7.6 9 20 14 7p22.3 CYP2W1 P Cytochrome P450, family 2, subfamily W, polypeptide 1 615967 REc
7.7 12 17 12 7p22.3 ELFN1, PPP1R28 P Extracellular leucine-rich repeat and fibronectin type III domain-containing protein 1 614964 REc
7.8 9 8 10 7p22.3 GET4, C7orf20, CEE P Golgi to ER traffic protein 4, S. cerevisiae, homolog of 612056 REc
7.9 10 25 17 7p22.3 DNAAF5, HEATR2, CILD18 P Dynein axonemal assembly factor 5 614864 REc Ciliary dyskinesia, primary, 18, 614874 (3)
7.10 3 23 14 7p22.3 INTS1, INT1, KIAA1440 P Integrator complex subunit 1 611345 REc
7.11 8 28 17 7p22.3 IQCE, KIAA1023, PAPA7 P IQ domain-containing protein E 617631 REc mutation identified in 1 PAPA7 family ?Polydactyly, postaxial, type A7, 617642 (3)
7.12 9 22 14 7p22.3 MIR339 P Micro RNA 339 615977 REc
7.13 6 17 17 7p22.3 PSMG3, PAC3 P Proteasome assembly chaperone 3 617528 REc
7.14 12 10 12 7p22.3 SNX8 P Sorting nexin 8 614905 REc
7.15 9 30 09 7p22.3 UNC84A, KIAA0810, SUN1 P UNC84, C. elegans, homolog of, A 607723 R, REc
7.16 1 16 07 7p22.3 ZFAND2A, AIRAP P Zinc finger AN1 domain-containing protein 2A 610699 REc
7.17 9 28 11 7p22.3-p21.3 HYPT10 P Hypotrichosis 10 614238 Fd between D7S1532 and D7S3047 Hypotrichosis 10 (2)
7.18 10 3 07 7p22.3 EIF3B, EIF3S9, PRT1 P Eukaryotic translation initiation factor 3, subunit B 603917 REc
7.19 3 11 08 7p22.3-p22.2 GNA12 P Guanine nucleotide-binding protein, alpha-12 604394 R, REc
7.20 10 18 15 7p22.2 SDK1 P Sidekick, Drosophila, homolog of, 1 607216 REc 5(Sdk1)
7.21 6 9 08 7p13 TMED4 P Transmembrane p24 trafficking protein 4 612038 REc
7.22 3 9 17 7p22.1 WIPI2 P WD40 repeat protein interacting with phosphoinositides 2 609225 Psh
7.23 9 18 12 7p22.1 AP5Z1, KIAA0415, SPG48 C Adaptor-related protein complex 5, zeta-1 subunit 613653 R, REc Spastic paraplegia 48, autosomal recessive, 613647 (3)
7.24 9 30 09 7p22.1 CYTH3, PSCD3, ARNO3, GRP1 P Cytohesin 3 605081 R, REc
7.25 9 8 11 7p22.1 DAGLB P Diacylglycerol lipase, beta 614016 REc
7.26 11 22 10 7p22.1 EIF2AK1, HRI P Eukaryotic translation initiation factor 2-alpha kinase 1 613635 REc
7.27 10 28 15 7p22.1 FAM220A, SIPAR, ACPIN1, C7orf70 P Family with sequence similarity 220, member A 616628 REc 5(Fam220A)
7.28 6 13 12 7p22.1 FBXL18, FBL18 P F-box and leucine-rich repeat protein 18 609084 REc
7.29 4 10 15 7p22.1 FOXK1, MNF C Forkhead box K1 616302 REc, H 5(Foxk1)
7.30 4 19 12 7p22.1 MMD2, PAQR10 P Monocyte-to-macrophage differentiation-associated protein 2 614581 REc
7.31 7 19 06 7p22.1 PAPOLB, TPAP P Poly(A) polymerase, beta 607436 REc
7.32 10 31 17 7p22.1 RAC1, MRD48 P Ras-related C3 botulinum toxin substrate 1 602048 REc Mental retardation, autosomal dominant 48, 617751 (3)
7.33 10 2 07 7p22.1 RADIL, KIAA1849 P RAP GTPase interactor 611491 REc
7.34 11 11 14 7p22.1 RBAK P RB-associated KRAB repressor 608191 R, REc
7.35 2 4 13 7p22.1 SLC29A4, PMAT, ENT4 P Solute carrier family 29 (monoamine transporter), member 4 609149 REc
7.36 10 4 05 7p22.1 STBMS1 P Strabismus, susceptibility to, 1 185100 Fd max lod at marker 1911/1912 {Strabismus, susceptibility to, 1} (2)
7.37 6 13 95 7p21.2 MEOX2 P Mesenchyme homeo box 2 600535 A
7.38 5 24 13 7p22.1 AIMP2, JTV1 P Aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 600859 A
7.39 8 25 17 7p22.2 CARD11, CARMA1, BIMP3, PPBL, BENTA, IMD11A P Caspase recruitment domain-containing protein 11 607210 R, REc B-cell expansion with NFKB and T-cell anergy, 616452 (3); Immunodeficiency 11A, 615206 (3); Immunodeficiency 11B with atopic dermatitis, 617638 (3)
7.40 8 19 13 7p22.3 CHST12, C4ST2 P Carbohydrate sulfotransferase 12 610129 R
7.41 9 8 11 7p22 ERVK-6 P Endogenous retroviral group K, member 6 605626 A
7.42 8 18 02 7p22.1 FSCN1, SNL P Fascin homolog 1, actin-bundling protein (singed, Drosophila, homolog-like) 602689 A
7.43 2 21 01 7p22 FHII P Hyperaldosteronism, familial, type II 605635 Fd Hyperaldosteronism, familial, type II (2)
7.44 6 11 02 7p22.3 FTSJ2, FJH1 P FTSJ, E. coli, homolog of, 2 606906 R
7.45 1 1 12 7p21.3 GLCCI1, TSSN1, GCTR P Glucocorticoid-induced transcript 1 614283 REc {Glucocorticoid therapy, response to}, 614400 (3) 6(Glcci1)
7.46 6 21 10 7p22.3 GPER, CMKRL2, GPR30 P G protein-coupled estrogen receptor 1 601805 Psh
7.47 2 20 97 7p21.3 ICA1 P Islet cell autoantigen 1, 69kD 147625 A 6(Ica1)
7.48 9 11 14 7p22.3 LFNG, SCDO3 C Lunatic fringe 602576 REa, R, A mutation identified in 1 SDO3 family ?Spondylocostal dysostosis 3, autosomal recessive, 609813 (3) 5(Lfng)
7.49 8 29 01 7p22.3 MAD1L1, TXBP181 P Mitotic arrest-deficient 1, yeast, homolog-like 1 602686 R Lymphoma, somatic (3); Prostate cancer, somatic, 176807 (3) 5(Mad1l1)
7.50 7 10 95 7p21.2 ETV1 P ETS variant gene-1 600541 Ch, A fused with EWS in some Ewing sarcoma
7.51 8 21 07 7p22.3 FAM20C, DMP4 C Family with sequence similarity 20, member C 611061 R, REc, Ch Raine syndrome, 259775 (3)
7.52 8 9 99 7p22.3 MAFK, NFE2U P V-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein K (nuclear factor erythroid 2, ubiquitous subunit) 600197 A 5(Nfe2u)
7.53 6 8 95 7p22.3 NUDT1, MTH1 P Nudix-type motif 1 600312 A
7.54 8 28 92 7p22.3 PDGFA C Platelet-derived growth factor, alpha polypeptide 173430 REa, A
7.55 11 19 11 7p22.1 PMS2, PMSL2, HNPCC4 C Postmeiotic segregation increased, S. cerevisiae, 2, homolog of 600259 REa, A Mismatch repair cancer syndrome, 276300 (3); Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
7.56 7 23 13 7p22.1 RNF216, TRIAD3, ZIN, CAHH P RING finger protein 216 609948 REc Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3)
7.57 4 7 94 7p21.3 RPA3 P Replication protein A3, 14kD 179837 REa, Psh, A
7.58 6 7 91 7p22.1 ZNF12 P Zinc finger protein-12 (KOX3) 194536 REa, A
7.59 12 4 90 7p14.1 RALA P RAS-like protein A (Simian leukemia viral (v-ral) oncogene homolog A, ras-related) 179550 REb, A 13(Ral)
7.60 7 1 11 7p22-p14 CPVT3 P Ventricular tachycardia, catecholaminergic polymorphic, 3 614021 Fd between D7S526 and D7S481 Ventricular tachycardia, catecholaminergic polymorphic, 3 (2)
7.61 5 24 12 7p22.1 ACTB, BRWS1 C Actin, beta 102630 REa, A ~20 pseudogenes also; mutation identified in twin DJO patients ?Dystonia, juvenile-onset, 607371 (3); Baraitser-Winter syndrome 1, 243310 (3) 5(Actb)
7.62 11 28 01 7p21.1 AGR2, AG2 P Anterior gradient 2, Xenopus, homolog of 606358 R, A
7.63 9 24 08 7p21.1 AGR3, BCMP11 P Anterior gradient 3, Xenopus, homolog of 609482 REc
7.64 3 23 06 7p21.3 COL28A1 P Collagen, type XXVIII, alpha-1 polypeptide 609996 REc 6(Col28a1)
7.65 8 7 13 7p21.3 MIOS P Missing oocyte/meiosis regulator, Drosophila, homolog of 615359 REc
7.66 5 25 13 7p21.3 NDUFA4 P NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 4 603833 REc
7.67 7 18 14 7p21.3 NXPH1, NPH1 P Neurexophilin 1 604639 REc
7.68 7 26 10 7p21.3 SCIN, KIAA1905 P Scinderin 613416 R, REc
7.69 9 24 08 7p21.3 THSD7A, KIAA0960 P Thrombospondin type-1 domain-containing protein 7A 612249 R, REc
7.70 7 27 10 7p21.3 TMEM106B P Transmembrane protein 106B 613413 REc
7.71 6 26 16 7p21.3-p21.2 LOC105375159 P Long intergenic noncoding RNA AC011288.2 616986 REc
7.72 4 26 11 7p21.2 AGMO, TMEM195 P Alkylglycerol monooxygenase 613738 REc
7.73 9 29 09 7p21.2 DGKB, DGK, KIAA0718 P Diacylglycerol kinase, beta, 90kD 604070 R, REc
7.74 10 12 14 7p21.2-p21.1 ISPD, MDDGA7, MDDGC7 P Isoprenoid synthase domain-containing protein 614631 REc Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3)
7.75 10 30 07 7p21.1 PRPS1L1, PRPS3 P Phosphoribosylpyrophosphate synthetase 1-like 1 611566 REa, R
7.76 12 28 08 7p21.2 SOSTDC1, ECTODIN, USAG1 P Sclerostin domain-containing protein 1 609675 REc
7.77 7 8 10 7p21.2 FGQTL4 P Fasting plasma glucose level QTL 4 613462 Fd associated with rs2191349 [Fasting plasma glucose level QTL 4] (2)
7.78 8 2 17 7p21.1 FERD3L, NTWIST, NATO3, PTFB P Fer3, Drosophila, homolog of 617578 REc, H 12(Ferd3l)
7.79 3 11 09 7p21.1 MACC1 P Metastasis-associated gene in colon cancer 1 612646 REc
7.80 4 18 05 7p21.1 SNX13, KIAA0713 P Sorting nexin 13 606589 R, REc
7.81 12 21 09 7p21.1 TSPAN13, NET6 P Tetraspanin 13 613139 REn
7.82 9 28 10 7p21.2-p14.3 EDSS2 P Ectodermal dysplasia-syndactyly syndrome 2 613576 Fd between D7S488 and D7S817 Ectodermal dysplasia-syndactyly syndrome 2 (2)
7.83 12 3 08 7p15.3 DNAH11, DNAHC11, CILD7, DNAHBL C Dynein, axonemal, heavy chain-11 603339 REa, REn Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
7.84 1 24 09 7p15.3 IL6, IFNB2, BSF2, HSF, HGF C Interleukin-6 (interferon, beta-2) 147620 REa, A, Fd {Rheumatoid arthritis, systemic juvenile}, 604302 (3); {Kaposi sarcoma, susceptibility to}, 148000 (3); {Diabetes, susceptibility to}, 222100, 125853 (3); {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3); {Crohn disease-associated growth failure}, 266600 (3) 5(Il6)
7.85 12 8 03 7p21.1 SP8, BTD P Transcription factor Sp8 608306 REc
7.86 10 26 17 7p21.1 TWIST1, ACS3, SCS, CRS1, SWCOS C TWIST, Drosophila, homolog of, 1 601622 Fd, Ch, A, REa Saethre-Chotzen syndrome with or without eyelid anomalies, 101400 (3); Craniosynostosis 1, 123100 (3); Robinow-Sorauf syndrome, 180750 (3); Sweeney-Cox syndrome, 617746 (3) 12(Twist)
7.87 12 4 03 7p21.1 TWISTNB P TWIST neighbor 608312 REc pseudogene on 6q14.3 12(Twistnb)
7.88 3 5 98 7p14.3 CRHR2, CRFR2 P Corticotropin releasing hormone receptor-2 602034 R, A 6(Crhr2)
7.89 12 11 01 7p21.1 HDAC9, MITR, HDAC7B, KIAA0744 C Histone deacetylase 9 606543 R, REc
7.90 4 7 94 7p21-p15 MDDC P Macular dystrophy, dominant cystoid 153880 Fd ?allelic to RP9 Macular dystrophy, dominant cystoid (2)
7.91 9 30 02 7p15.3 MPP6, VAM1, PALS2 P Membrane protein, palmitoylated 6 606959 A 6(Pals2)
7.92 4 1 08 7q22.1 TSC22D4, THG1 P TSC22 domain family, member 4 611914 REc
7.93 5 10 04 7p14.3 FAPP2 P Phosphatidylinositol 4-phosphate adaptor protein 2 608639 REc
7.94 2 11 08 7p21.1 ABCB5 C ATP-binding cassette, subfamily B, member 5 611785 REc
7.95 11 3 14 7p15.3 C7orf31 P Chromosome 7 open reading frame 31 616071 REc
7.96 8 10 98 7p14.3 CHN2, ARHGAP3, RHOGAP3 P Chimerin 2 (GTPase-activating protein, rho, 3) 602857 A
7.97 12 5 08 7p15.3 FAM126A, DRCTNNB1A, HLD5 P Hyccin 610531 A Leukodystrophy, hypomyelinating, 5, 610532 (3)
7.98 3 27 18 7p15.3 GPNMB, PLCA3 P Glycoprotein NMB 604368 REc Amyloidosis, primary localized cutaneous, 3, 617920 (3)
7.99 9 28 05 7p15.2 HOXA1, HOX1F, BSAS C Homeo box-A1 142955 RE, A, Fd Bosley-Salih-Alorainy syndrome, 601536 (3); Athabaskan brainstem dysgenesis syndrome, 601536 (3) 6(Hox1.6)
7.100 9 1 16 7p15.3 KLHL7, RP42, CISS3 P Kelch-like 7 611119 REc Retinitis pigmentosa 42, 612943 (3); Cold-induced sweating syndrome 3, 617055 (3)
7.101 5 8 12 7p15.3 MALSU1, C7orf30 P Mitochondrial assembly of ribosomal large subunit 1 614624 REc
7.102 6 26 16 7p15.3 NPVF, RFRP, C7orf9 P Neuropeptide VF precursor 616984 Psh, REc
7.103 9 30 09 7p15.3 STK31 P Serine/threonine kinase 31 605790 R, REc
7.104 12 18 13 7p15.3 TOMM7 P Translocase of outer mitochondrial membrane 7, yeast, homolog of 607980 REc
7.105 5 25 13 7p15.3 TRA2A P Transformer 2, Drosophila, homolog of 602718 REc
7.106 5 11 00 7p14.3 INMT P Indolethylamine N-methyltransferase 604854 REa, A
7.107 11 11 14 7p15.2 CBX3 P Chromobox homolog 3 604477 R, REc
7.108 1 14 09 7p15.3 CYCS, CYC, THC4 C Cytochrome C, somatic 123970 REc Thrombocytopenia 4, 612004 (3)
7.109 8 8 13 7p15.2 HIBADH P 3-hydroxyisobutyrate dehydrogenase 608475 REc, R
7.110 7 1 11 7p15.2 HOTTIP, NCRNA00213 P HOXA distal transcript antisense RNA 614060 REc
7.111 9 20 14 7p15.2 HOXA11AS P Homeo box A11, antisense 607530 REc 6(Hoxa11s)
7.112 11 3 14 7p15.2 HOXAAS2 P HOXA cluster antisense RNA 2 616068 REc
7.113 5 15 11 7p15.2 MIR148A, MIRN148A P Micro RNA 148A 613786 REc
7.114 6 22 14 7p15.2 SKAP2, SCAP2, SKAP55R P src kinase associated phosphoprotein 2 605215 REc
7.115 2 21 13 7p15.2 SNX10, OPTB8 P Sorting nexin 10 614780 REc Osteopetrosis, autosomal recessive 8, 615085 (3)
7.116 12 22 17 7p14.3 FKBP14, EDSKSCL2 P FK506-binding protein 14 614505 REc Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 (3)
7.117 5 9 95 7p15.3 NPY C Neuropeptide Y 162640 REa, H, A 6(Npy)
7.118 12 4 08 7p14.3 WIPF3, CR16 P WAS/WASL-interacting protein family, member 3 612432 REc
7.119 6 10 08 7p14.3 ZNRF2 P Zinc finger and ring finger protein 2 612061 REc
7.120 10 19 97 7p21.1 AHR C Aryl hydrocarbon receptor 600253 REa, A, Psh
7.121 12 28 08 7p15.3 CDCA7L, R1, JPO2 P Cell division cycle-associated protein 7-like 609685 REc
7.122 6 8 07 7p14.3 GARS, SMAD1, CMT2D, HMN5 C Glycyl-tRNA synthetase 600287 A, Fd Charcot-Marie-Tooth disease, type 2D, 601472 (3); Neuropathy, distal hereditary motor, type VA, 600794 (3)
7.123 8 28 17 7p15.3 GSDME, DFNA5 C Gasdermin E 608798 Fd, REc, H Deafness, autosomal dominant 5, 600994 (3) 6(Dfna5)
7.124 12 30 03 7p14.3 GSBS P G-substrate 604088 R {Hypercholesterolemia, susceptibility to}, 143890 (3)
7.125 10 7 13 7p15.2 HNRPA2B1, IBMPFD2 P Heterogeneous nuclear ribonucleoprotein A2/B1 600124 A mutation identified in 1 family ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, 615422 (3)
7.126 3 22 06 7p15.3 IGF2BP3, IMP3, KOC1, VICKZ3 P Insulin-like growth factor 2 mRNA-binding protein 3 608259 A, H 6(Imp3)
7.127 6 22 14 7p15.2-p15.1 JAZF1, TIP27 P JAZF1 gene 606246 Ch fused with JJAZ1
7.128 8 21 91 7p15 MYCLK1 P Avian myelocytomatosis viral (v-myc) oncogene homolog like 1 164865 A
7.129 3 2 10 7p15 MYP17, MYP4 P Myopia 17 608367 Fd previously assigned to 7q36 (MYP4) Myopia 17 (2)
7.130 5 7 03 7p15.3 OSBPL3, ORP3, KIAA0704 C Oxysterol-binding protein-like protein 3 606732 R, REc
7.131 6 13 95 7p15.3 SP4 P Sp4 transcription factor 600540 Psh, A
7.132 5 5 09 7p15 STQTL17 P Stature quantitative trait locus 17 612737 Fd associated with rs1635852 and rs849140 {Stature QTL 17} (2)
7.133 9 30 09 7p15.2 TAX1BP1, TXBP151 P TAX1-binding protein 1 605326 R, REc
7.134 12 20 05 7p14.3 CPVL, HVLP P Carboxypeptidase, vitellogenic-like 609780 REc
7.135 12 24 08 7p14.3 GGCT, GCTG, C7orf24 C Gamma-glutamylcyclotransferase 137170 S, REc 6(Ggc)
7.136 7 16 09 7p14.3 GHRHR, GHRFR, IGHD1B C Growth hormone releasing hormone receptor 139191 REa, A Growth hormone deficiency, isolated, type IB, 612781 (3) 6(Lit, Ghrhr)
7.137 1 23 07 7p14.3 NOD1, CARD4 P Nucleotide-binding oligomerization domain protein 1 605980 REc
7.138 7 11 11 7p14.1 TARP P T-cell antigen receptor, gamma subunit, alternate reading frame protein 609642 REc
7.139 2 26 93 7p15.2 HOXA3, HOX1E L Homeo box-A3 142954 RE homolog of Drosophila zen1, zen2 6(Hox1.5)
7.140 2 26 93 7p15.2 HOXA4, HOX1D C Homeo box-A4 142953 A, REa, H, RE homolog of Drosophila Dfd 6(Hox1.4)
7.141 2 26 93 7p15.2 HOXA5, HOX1C C Homeo box-A5 142952 A, REa, H, RE 6(Hox1.3)
7.142 2 26 93 7p15.2 HOXA6, HOX1B C Homeo box-A6 142951 A, REa, H, RE 6(Hox1.2)
7.143 2 26 93 7p15.2 HOXA7, HOX1A C Homeo box-A7 142950 A, REa, H, RE homolog of Drosophila Antp 6(Hox1.1)
7.144 2 26 93 7p15.2 HOXA9, HOX1G C Homeo box-A9 142956 RE, Ch homolog of Drosophila Abd-B; fused to NUP98 in myeloid leukemia 6(Hox1.7)
7.145 2 26 93 7p15.2 HOXA10, HOX1H C Homeo box-A10 142957 A, REa, H, RE
7.146 11 8 16 7p15.2 HOXA11, HOX1I, RUSAT1 C Homeo box-A11 142958 A, REa, H, RE Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 (3)
7.147 5 17 02 7p15.2 HOXA13, HOX1J C Homeo box-A13 142959 RE, Fd Hand-foot-uterus syndrome, 140000 (3); Guttmacher syndrome, 176305 (3) 6(Hoxa13, Hd)
7.148 3 23 09 7p15.2 MIR196B, MIRN196B P Micro RNA 196B 609688 REc
7.149 4 21 04 7p14.3 AAA1 P Asthma-associated alternatively spliced gene 1 608596 REc
7.150 3 23 95 7p15.2 EVX1 P Even-skipped homeo box-1 (homolog of Drosophila) 142996 REn at 5' end of HOX1 cluster
7.151 11 22 13 7p15.2 HOXA2, MCOHI P Homeobox A2 604685 REc ?Microtia, hearing impairment, and cleft palate (AR), 612290 (3); ?Microtia with or without hearing impairment (AD), 612290 (3)
7.152 10 08 07 7p14.3 NEUROD6, ATOH2, MATH2 P Neurogenic differentiation 6 611513 REc
7.153 10 20 99 7p15.2 NFE2L3, NRF3 P Nuclear factor erythroid 2-like 3 604135 A
7.154 5 21 09 7p14.3 NPSR1, GPR154, GPRA, VRR1, PGR14, ASRT2 P Neuropeptide S receptor 1 608595 REc {Asthma, susceptibility to, 2}, 608584 (3)
7.155 11 19 13 7p14.3 NT5C3A, NT5C3, UMPH1, PSN1 P 5' nucleotidase, cytosolic IIIA (uridine 5' monophosphate hydrolase 1) 606224 REc pseudogenes on chr.4 and chr.7 Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)
7.156 8 29 07 7p14.2 TBX20, ASD4 C T-box 20 606061 REc Atrial septal defect 4, 611363 (3)
7.157 7 8 10 7p15-p13 FGQTL2, BWQTL1 P Fasting plasma glucose level QTL 2; Birth weight QTL 1 613219 Fd associated with rs4607517 [Fasting plasma glucose level QTL 2] (2); [Birth weight QTL 1] (2)
7.158 8 12 15 7p13 GCK, HHF3 C Glucokinase (hexokinase-4) 138079 Psh, Fd proximal to TCRB MODY, type II, 125851 (3); Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3); Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3); Diabetes mellitus, permanent neonatal, 606176 (3)
7.159 2 4 89 7p14.1 INHBA P Inhibin, beta-1 147290 REa 13(Inhba)
7.160 8 17 09 7p14.3 AVL9, KIAA0241 P AVL9, S. cerevisiae, homolog of 612927 R, REc
7.161 3 28 11 7p14.3 BMPER, CV2 P BMP binding endothelial regulator 608699 REc Diaphanospondylodysostosis, 608022 (3) 9(Bmper)
7.162 7 15 11 7p14.2 DPY19L1, KIAA0877 P DPY19-like 1 613892 REc 7p14.3
7.163 9 30 09 7p14.3 LSM5 P LSM5 protein 607285 R, REc
7.164 2 19 10 7p14.3 PDE1C, HCAM3 P Phosphodiesterase 1C 602987 REc
7.165 4 26 10 7p14.3 TRIL, KIAA0644 P TLR4 interactor with leucine-rich repeats 613356 REc
7.166 12 17 12 7p14.3 SCRN1, SES1, KIAA0193 C Secernin 1 614965 REc, R
7.167 9 30 14 7p14.2 ANLN, FSFS8 P Actin-binding protein anillin 616027 REc Focal segmental glomerulosclerosis 8, 616032 (3)
7.168 11 23 16 7p14.2 EEPD1, KIAA1706 P Endonuclease/exonuclease/phosphatase family domain-containing protein 1 617192 REc
7.169 3 21 14 7p14.3 RP9, PAP1 C RP9 gene (pim1-associated protein, mouse, homolog of) 607331 Fd, REc mutation identified in 1 patient ?Retinitis pigmentosa 9, 180104 (3)
7.170 2 24 17 7p14.1 CDK13, CDC2L5, CHED, CHDFIDD P Cyclin-dependent kinase 13 603309 REc Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3)
7.171 6 13 12 7p14.1 GPR141, PGR13 P G protein -coupled receptor 141 609045 REc 13(Gpr141)
7.172 3 14 13 7p14.1 NME8, TXNDC3, SPTRX2, CILD6 P NME/NM23 family member 8 607421 R Ciliary dyskinesia, primary, 6, 610852 (3)
7.173 7 14 16 7p14.1 SFRP4, FRPHE, PYL P Secreted frizzled-related protein 4 606570 H, REc Pyle disease, 265900 (3) 13(Sfrp4)
7.174 10 15 13 7p14.1 TRGC1 C T-cell receptor gamma chain constant region 1 186970 REa, A, Ch 13(Tcrg)
7.175 10 15 13 7p14.1 TRGC2 P T-cell receptor gamma chain constant region 2 615450 REc
7.176 10 15 13 7p14.1 TRGV@ P T-cell receptor gamma chain variable gene cluster 615454 REc
7.177 10 15 13 7p14.1 TRGJ@ P T-cell receptor gamma chain joining gene cluster 615455 REc
7.178 9 30 09 7p14.1 VPS41 P Vacuolar protein sorting 41, Yeast, homolog of 605485 R, REc
7.179 1 7 95 7p14.3 ADCYAP1R1, PACAPR C Adenylate cyclase activating polypeptide-1 (pituitary) receptor type 1 102981 Psh, A
7.180 2 5 18 7p14.3 AQP1, CHIP28, CO C Aquaporin-1 (channel-forming integral protein, 28kD) 107776 REa, A, Fd [Blood group, Colton], 110450 (3); [Aquaporin-1 deficiency], 110450 (3) 6(Aqp1)
7.181 7 24 15 7p14.1 C7orf10, GA3 P Chromosome 7 open reading frame 10 609187 A Glutaric aciduria III, 231690 (3)
7.182 12 7 17 7p13 CAMK2B, MRD54 P Calcium/calmodulin-dependent protein kinase II-beta 607707 REc Mental retardation, autosomal dominant 54, 617799 (3)
7.183 9 30 09 7p14.2-p14.1 ELMO1, CED12 P Engulfment and cell motility gene 1 606420 REc
7.184 12 29 06 7p14 HHT4 P Telangiectasia, hereditary hemorrhagic, type 4 610655 Fd between D7S2252 and D7S510 Telangiectasia, hereditary hemorrhagic, type 4 (2)
7.185 6 2 15 7p14.1 MPLKIP, C7orf11, ABHS, TTDN1, TTD4 C M-phase specific PLK1 interacting protein 609188 A Trichothiodystrophy 4, nonphotosensitive, 234050 (3)
7.186 2 28 08 7p14.1 MRPL32 P Mitochondrial ribosomal protein L32 611839 R
7.187 4 24 08 7p13 MRPS24 P Mitochondrial ribosomal protein S24 611986 R, REc
7.188 10 16 14 7p14.3 PTHB1, BBS9 C Parathyroid hormone-responsive B1 gene 607968 REc, Fd Bardet-Biedl syndrome 9, 615986 (3)
7.189 10 1 07 7p14.2 SEPT7, CDC10 P Septin 7 603151 REc
7.190 3 26 95 7p14.1 AMPH P Amphiphysin 600418 Psh, A 13(Amph)
7.191 11 8 06 7p22.1-p21.3 C1GALT1 P Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 610555 REc
7.192 4 6 00 7p11.2 HPVC1, PE5L P Human papillomavirus E5 central sequence-like 1 600762 A
7.193 9 21 09 7p13 OGDH C Oxoglutarate dehydrogenase, lipoamide (alpha-ketoglutarate dehydrogenase) 613022 REa, A Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)
7.194 12 7 04 7p14.1 POU6F2, WTSL, WT5 C POU domain, class 6, transcription factor 2 609062 Ch, D, REc {Wilms tumor susceptibility-5}, 601583 (3)
7.195 1 28 08 7p14.1 STARD3NL, MENTHO P STARD3 N-terminal like 611759 REc
7.196 10 13 94 7p14.2 AOAH P Acyloxyacyl hydrolase (neutrophil) 102593 A
7.197 2 9 92 7p12.3 IGFBP1 C Insulin-like growth factor-binding protein-1 146730 REa, A, REn
7.198 2 9 92 7p12.3 IGFBP3 C Insulin-like growth factor-binding protein-3 146732 REn tail-to-tail 20kb from IGFBP1
7.199 8 16 11 7p13 BLVRA C Biliverdin reductase A 109750 S, A Hyperbiliverdinemia, 614156 (3) 2(Blvr)
7.200 2 10 04 7p13 C7orf22, CCM2, MGC4067 C Malcavernin 607929 Fd, REc Cerebral cavernous malformations-2, 603284 (3)
7.201 8 21 12 7p13 COA1, C7orf44 P Cytochrome c oxidase assembly factor 1, S. cerevisiae, homolog of 614769 REc
7.202 8 29 13 7p13 DBNL, HIP55 P Drebrin-like 610106 REc, R
7.203 11 11 14 7p13 DDX56, NOH61 P DEAD/H box 56 608023 R, REc
7.204 8 5 11 7p14.1 GLI3, PAPA, PAPB C GLI-Kruppel family member GLI3 (oncogene GLI3) 165240 REa, A, Fd amplified in glioblastoma Greig cephalopolysyndactyly syndrome, 175700 (3); Pallister-Hall syndrome, 146510 (3); Polydactyly, preaxial, type IV, 174700 (3); Polydactyly, postaxial, types A1 and B, 174200 (3); {Hypothalamic hamartomas, somatic}, 241800 (3) 13(Xt)
7.205 8 19 13 7p14-p13 HECW1, NEDL1, KIAA0322 P HECT, C2, and WW domains-containing E3 ubiquitin-protein ligase 1 610384 REc, R
7.206 9 8 11 7p13 MYL7, MYL2A, MLC2A, MYLC2A P Myosin, light chain 7, regulatory 613993 R, REc 11(Myl7)
7.207 7 2 14 7p13 MYO1G, HA2, HLA-HA2 P Myosin IG 600642 A
7.208 5 24 13 7p13 NUDCD3, KIAA1068, NUDCL P NUDC domain-containing protein 3 610296 REc, R
7.209 5 31 05 7p13 NPC1L1 C NPC1-like 1 608010 REa, A [Ezetimibe, nonresponse to] (3)
7.210 9 30 09 7p13 POLD2 P Polymerase (DNA directed), delta 2, regulatory subunit, 50kD 600815 Psh, REc
7.211 9 20 14 7p13 POLM P Polymerase, DNA, mu 606344 REc
7.212 4 30 97 7p13 PPIA C Peptidylprolyl isomerase A (cyclophilin A) 123840 Psh, A
7.213 6 9 06 7p14.1 PSMA2, PSC2, HC3 P Proteasome (prosome, macropain) subunit, alpha type, 2 176842 REc incorrectly assigned to 6q
7.214 9 16 12 7p13 PURB P Purine-rich element-binding protein B 608887 REc
7.215 2 23 08 7p12.3 SEPT13 P Septin 13 611563 REc
7.216 4 2 16 7p13 SNORA5C P Small nucleolar RNA, H/ACA box, 5C 611335 REc in intron 3 of TBRG4
7.217 8 28 17 7p13 SPDYE1, SPDYB2L2, RINGO1 P SPEEDY/RINGO cell cycle regulator family, member E1 617623 REc
7.218 10 2 12 7p13 STK17A, DRAK1 P Serine/threonine protein kinase 17A 604726 REc
7.219 4 6 15 7p13 TBRG4, KIAA0948, CPR2 P Transforming growth factor-beta regulator 4 611325 A, REc
7.220 2 19 10 7p13 URGCP, URG4 P Upregulator of cell proliferation 610337 REc
7.221 5 23 13 7p13 ZMIZ2, KIAA1886, ZIMP7 P Zinc finger MIZ-domain containing 2 611196 REc
7.222 8 17 09 7p13 PGAM2, PGAMM, GSD10 C Phosphoglycerate mutase, muscle form 612931 REa, A Glycogen storage disease X, 261670 (3)
7.223 7 17 14 7p12.3 ADCY1, DFNB44 C Adenylate cyclase-1, brain 103072 A, REa, Fd mutation identified in 1 DFNB44 family ?Deafness, autosomal recessive 44, 610154 (3) 11(Adcy1, brl)
7.224 6 16 99 7p12.3 HUS1 P Hydroxyurea-sensitive 1, S. pombe, homolog of 603760 A, R
7.225 11 23 16 7p12.3 PKD1L1, HTX8 P Polycystin 1L1 609721 A Heterotaxy, visceral, 8, autosomal, 617205 (3) 11(Pkd1l1)
7.226 2 15 01 7p13 RAMP3 C Receptor activity-modifying protein 3 605155 R 11(Ramp3)
7.227 2 23 92 7p22.1 OCM P Oncomodulin 164795 REa 5(Ocm)
7.228 12 28 08 7p12.3 ABCA13 P ATP-binding cassette, subfamily A, member 13 607807 REc, H 11(Abca13)
7.229 1 2 08 7p12.3 TNS3, TEM6 P Tensin 3 606825 R, REc
7.230 1 23 08 7p12.3 UPP1, UP C Uridine phosphorylase 1 191730 S, REc
7.231 11 3 14 7p11.2 EGFR, NISBD2 C Epidermal growth factor receptor 131550 S, Fd, D, REa same as oncogene ERBB; mutation identified in 1 NISBD2 family Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3); Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3); {Nonsmall cell lung cancer, susceptibility to}, 211980 (3); ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3) 11(Erbb)
7.232 10 13 09 7p12.2 ALL2 P Leukemia, acute lymphoblastic, susceptibility to, 2 613067 Fd associated with rs11978267 {Leukemia, acute lymphoblastic, susceptibility to, 2} (2)
7.233 6 13 07 7p12.2 VWC2, BRORIN P von Willebrand factor C domain-containing protein 2 611108 REc
7.234 8 8 13 7p12.2 ZPBP, SP38 P Zona pellucida-binding protein 608498 REc
7.235 9 9 13 7p12.2 FIGNL1 P Fidgetin-like protein 1 615383 REc
7.236 6 7 12 7p12.1-q21 CMH21 P Cardiomyopathy, familial hypertrophic, 21 614676 Fd max lod at D7S669 Cardiomyopathy, hypertrophic, 21 (2)
7.237 8 19 13 7p12.1 COBL, KIAA0633 P Cordon-bleu, mouse, homolog of 610317 REc 11(Cobl)
7.238 3 12 15 7p14.3 FKBP9, FKBP60, FKBP63 P FK506-binding protein 9 616257 A
7.239 12 15 98 7p11.2 GBAS, NIPSNAP2 P Glioblastoma amplified sequence 603004 R
7.240 3 25 16 7p12.2 IKZF1, ZNFN1A1, IK1, LYF1, CVID13 P Ikaros family zinc finger 1 603023 REa, Ch fused with BCL6 in DLBL Immunodeficiency, common variable, 13, 616873 (3) 11(Ikaros)
7.241 1 7 02 7p12.1 GRB10, RSS C Growth factor receptor-bound protein-10 601523 REa, R, A 11(Grb1)
7.242 7 11 93 7p12-cen TTIM1 C T-cell tumor invasion and metastasis-1 (invasion-metastasis of neoplasms, chromosome 7 determined) 147830 S
7.243 10 12 90 7p11.2 PHKG1 P Phosphorylase kinase, gamma 1, muscle 172470 REa, A presumed pseudogene on 11 5(Phkg)
7.244 8 8 13 7p11.2 CCT6A, CCT6, HTR3, TCP20 P Chaperonin containing T-complex polypeptide 1, subunit 6A 104613 REc
7.245 12 28 15 7p11.2 CHCHD2, PARK22 P Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 616244 REc Parkinson disease 22, autosomal dominant, 616710 (3)
7.246 7 22 09 7p11.2 LANCL2, TASP P LanC-like 2 612919 REc
7.247 4 14 14 7p11.2 NYS3 P Nystagmus 3, congenital, autosomal dominant 608345 Ch translocation t(7;15)(p11.2;q11.2) Nystagmus 3, congenital, autosomal dominant (2)
7.248 3 24 14 7p11.2 PSPH, PSP, PSPHD C Phosphoserine phosphatase 172480 S, D Phosphoserine phosphatase deficiency, 614023 (3) 5(Psph)
7.249 7 7 16 7p11.2 SEC61G P Sec61 complex, gamma subunit 609215 REc
7.250 7 10 08 7p11.2 SEPT14 P Septin 14 612140 Psh, REc
7.251 5 27 09 7p11.2 SRS, RSS C Silver-Russell syndrome 180860 Ch maternal uniparental disomy of chromosome 7 Silver-Russell syndrome (4)
7.252 2 25 15 7p11.2 SUMF2 P Sulfatase-modifying factor 2 607940 REc
7.253 5 24 13 7p11.2 VOPP1, ECOP, GASP P Vesicular, overexpressed in cancer, prosurvival protein 1 611915 REc
7.254 4 20 17 7p11.2 ZNF479, KR19 P Zinc finger protein 479 617444 REc
7.255 1 12 15 7p11.2 ZNF713 P Zinc finger protein 713 616181 REc
7.256 8 25 04 7p12.2-p12.1 DDC C DOPA decarboxylase (aromatic L-amino acid decarboxylase) 107930 REa, A Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
7.257 12 4 03 7q11.21 ASL C Argininosuccinate lyase 608310 S, REa, A Argininosuccinic aciduria, 207900 (3) 5(Asl)
7.258 2 1 01 7p21.3 ARL4 L ADP-ribosylation factor-like 4 604786 H 12(Arl4)
7.259 10 25 11 7q MLSM7, DEL7q, C7DELq P Monosomy 7 of bone marrow 252270 Ch Myelodysplasia and leukemia syndrome with monosomy 7 (4)
7.260 8 11 91 7q HRX P Hyperreflexia 145290 F linked to KEL
7.261 12 1 98 7q11.23 CLDN3, CPETR2 P Claudin-3 (Clostridium perfringens enterotoxin receptor 2) 602910 REa, R
7.262 7 22 15 7q11.21 SBDS, SDS C SBDS gene 607444 Fd, REc Shwachman-Diamond syndrome, 260400 (3); {Aplastic anemia, susceptibility to}, 609135 (3)
7.263 2 28 01 7q11.23 BAZ1B, WSTF, WBSCR9 P Bromodomain adjacent to zinc finger domain, 1B 605681 REa
7.264 4 23 08 7p11.2 MRPS17 C Mitochondrial ribosomal protein S17 611980 R, REc 9 pseudogenes
7.265 8 16 06 7p11-q21 HPC4 P Prostate cancer, hereditary, 4 608658 Fd {Prostate cancer, susceptibility to, 4}, 176807 (2)
7.266 10 19 01 7q11.2 ANIB1 C Aneurysm, intracranial berry, 1 105800 Fd in or near ELN Aneurysm, intracranial berry, 1 (2)
7.267 2 28 08 7q22.1 ARMC10, SVH P Armadillo repeat-containing 10 611864 REc
7.268 7 18 14 7q11.22 KIAA0442, MRD26 P KIAA0442 gene 607270 A, Ch translocation break at 7q11.2 Mental retardation, autosomal dominant 26, 615834 (3)
7.269 7 16 09 7q11.23 CCL26, SCYA26 P Chemokine, C-C motif, ligand 26 604697 A
7.270 5 30 17 7q11.23 ELN, SVAS, ADCL1 C Elastin 130160 REa, A, F, Fd Supravalvar aortic stenosis, 185500 (3); Cutis laxa, autosomal dominant, 123700 (3) 5(Eln)
7.271 7 8 10 7q11.2 EOE1, EE P Esophagitis, eosinophilic, 1 610247 Fd associated with rs2302009 {Esophagitis, eosinophilic, 1} (2)
7.272 2 1 01 7q11.21 ERV3 C Endogenous retroviral sequence-3 (includes zinc finger protein H-plk) 131170 REa, R
7.273 9 30 09 7q11.23 FGL2 P Fibrinogen-like 2 605351 R, REc
7.274 3 22 06 7q22.1 POLR2J2, RPB11 P RNA polymerase II polypeptide J-related gene 609881 REc
7.275 3 22 00 7q11.23 POMZP3 P POM121/ZP3 fusion protein 600587 A
7.276 1 27 11 7q11.23 POR C Cytochrome P450 oxidoreductase 124015 REa, A Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3); Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)
7.277 3 23 14 7p11.2 PSPHP1, PSPHL, CO9 P Phosphoserine phosphatase-like (pseudogene) 604239 TM
7.278 6 16 99 7q11.23 STX1A, STX1 P Syntaxin 1A, brain 186590 A, Psh
7.279 6 6 00 7q11.21 ZNF107 P Zinc finger protein-107 603989 A
7.280 9 12 93 7q11.21 ZNF117 P Zinc finger protein-117 194624 A
7.281 2 20 03 7q21.2 CCM1, CAM, KRIT1 C KREV interaction trapped 1 604214 Fd, A Cerebral cavernous malformations-1, 116860 (3); Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3); Cavernous malformations of CNS and retina, 116860 (3)
7.282 10 6 92 7q11.2-q21.3 EEC1 L Ectrodactyly, ectodermal dysplasia, cleft lip/palate, 1 129900 Ch ?EEC syndrome-1 (2)
7.283 8 20 12 7q11.21 KCTD7, EPM3, CLN14 P Potassium channel tetramerization domain containing 7 611725 REc, Fd Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)
7.284 12 28 08 7q11.21 RABGEF1, RABEX5 P RAB guanine nucleotide exchange factor 1 609700 R, REc
7.285 9 30 09 7q11.21 TPST1 P Tyrosylprotein sulfotransferase 1 603125 REc
7.286 5 26 13 7q11.21 TYW1 P tRNA-wybutosine-synthesizing protein 1, S. cerevisiae, homolog of 611243 REc, R
7.287 9 16 12 7q11.21 VKORC1L1 P Vitamin K epoxide reductase complex, subunit 1-like 1 608838 REc
7.288 2 1 11 7q11.21 ZNF92 P Zinc finger protein-92 603974 REa, A, REc sequence aligns with sequence on 19p13.1-p12
7.289 9 27 17 7q11.21 ZNF273, HZF9 P Zinc finger protein 273 604756 REc
7.290 2 2 01 7q11.21 ZNF138 P Zinc finger protein-138 604080 A, REa
7.291 4 6 13 7q11.22 WBSCR17, GALNTL3, GALNACT17 P Williams-Beuren syndrome chromosome region 17 615137 REc
7.292 4 17 01 7q11.23 BCL7B P B-cell CLL/lymphoma 7B 605846 REc
7.293 11 10 17 7q11.23 BUD23, WBSCR22, MERM1 P rRNA methyltransferase and ribosome maturation factor Bud23 615733 REc, H 5(Wbscr22)
7.294 8 29 02 7q11.23 CCL24, SCYA24, MPIF2 C Chemokine, C-C motif, ligand 24 602495 Psh, REc, R
7.295 10 4 05 7q11.23 CLDN4, CPETR1, CPER P Claudin 4 602909 Psh, H 5(Cldn4)
7.296 2 11 09 7q11.23 CLIP2, CYLN2, WBSCR4, WSCR4 P CAP-GLY domain-containing linker protein 2 603432 A, H ?neurodevelopmental defect of Williams syndrome 5(Cyln2)
7.297 2 22 11 7q11.23 DEL7q11.23, C7DELq11.23 P Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb 613729 Ch contiguous gene deletion syndrome Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb (4)
7.298 12 21 09 7q11.23 DTX2, KIAA1528 P Deltex, Drosophila, homolog of, 2 613141 R, REc
7.299 1 15 09 7q11.23 DUP7q11.23, C7DUPq11.23 P Chromosome 7q11.23 duplication syndrome 609757 Ch Chromosome 7q11.23 duplication syndrome (4)
7.300 2 12 09 7q11.23 EIF4H, WBSCR1, WSCR1 P Eukaryotic translation initiation factor 4H 603431 REc
7.301 5 11 00 7q11.23 FKBP6 P FK506-binding protein 6 604839 REc
7.302 8 28 97 7q11.23 FZD9, FZD3 P Frizzled, Drosophila, homolog of, 9 601766 REn
7.303 7 14 16 7q11.23 GATSL2, CASTOR2 P GATS protein-like 2 617033 REc
7.304 1 9 14 7q11.23 GSAP, PION P Gamma-secretase-activating protein 613552 REc
7.305 9 12 06 7q11.23 GTF2I, BAP135, WBS P General transcription factor II-I (BTK-associated protein, 135kD) 601679 D
7.306 9 12 06 7q11.23 GTF2IRD1, GTF3, MUSTRD1, WBS P GTF21 repeat domain-containing protein 1 604318 REc
7.307 2 28 03 7q11.23 HIP1 C Huntingtin interacting protein-1 601767 A, R {Prostate cancer, progression of}, 176807 (1) 5(Hip1)
7.308 6 8 07 7q11.23 HSPB1, HSP27, CMT2F, HMN2B C Heat-shock 27kD protein-1 602195 REa, H, REc, Fd Neuropathy, distal hereditary motor, type IIB, 608634 (3); Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3) 5(Hsp105)
7.309 2 12 09 7q11.23 LAT2, WBSCR5, LAB, NTAL P Linker for activation of T cells family, member 2 605719 REc 5(Wbscr5)
7.310 9 3 96 7q11.23 LIMK1 C LIM domain kinase 1 601329 REn, Ch, A 5(Limk1)
7.311 2 10 17 7q11.23 MDH2, EIEE51 C Malate dehydrogenase, mitochondrial 154100 S, REc Epileptic encephalopathy, early infantile, 51, 617339 (3) 5(Mor1)
7.312 3 17 08 7q11.23 MLXIPL, WBSCR14, MONDOB, CHREBP C MLX interacting protein-like 605678 REn
7.313 2 12 13 7q11.23 MIR590 P Micro RNA 590 615070 REc
7.314 10 12 90 7q11.23 NCF1 P Neutrophil cytosolic factor-1, 47kD 608512 REa, A Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
7.315 5 30 17 7q11.23 NSUN5, WBSCR20, WBSCR20A P NOP2/SUN RNA methyltransferase family, member 5 615732 REc
7.316 6 22 14 7q11.23 POM121, POM121A, KIAA0618 C POM121 transmembrane nucleoporin 615753 R, REc
7.317 6 22 14 7q11.23 POM121C, POM121-2 P POM121 Transmembrane nucleoporin C 615754 REc
7.318 12 5 13 7q11.23 PTPN12, PTPG1 P Protein tyrosine phosphatase, nonreceptor-type, 12 600079 A Colon cancer, somatic, 114500 (3) 5(Ptpn12)
7.319 3 6 95 7q11.23 RFC2 P Replication factor C2, 40kD (activator 1, 40kD) 600404 Psh, A
7.320 5 6 13 7q11.23 RHBDD2 P Rhomboid domain-containing protein 2 615203 REc
7.321 3 19 03 7q11.23 SRCRB4D P Protein with 4 group B scavenger receptor cysteine-rich domains 607639 REc, R
7.322 12 17 15 7q11.23 STYXL1, MKSTYX, DUSP24 P Serine/threonine/tyrosine-interacting protein-like 1 616695 REc
7.323 4 17 01 7q11.23 TBL2 P Transducin-beta-like 2 605842 H, R 5(Tbl2)
7.324 9 24 15 7q11.23 TMEM120A, TMPIT, NET29 P Transmembrane protein 120A 616550 REc
7.325 1 24 09 7q11.23 TRIM50, TRIM50A P Tripartite motif-containing protein 50 612548 REc, H 5(Trim50)
7.326 1 24 09 7q11.23 TRIM73, TRIM50B P Tripartite motif-containing protein 73 612549 REc
7.327 1 24 09 7q11.23 TRIM74, TRIM50C P Tripartite motif-containing protein 74 612550 REc
7.328 3 11 08 7q11.23 UPK3B, UPIIIB, P35 P Uroplakin 3B 611887 REn
7.329 6 9 06 7q11.23 VPS37D, WBSCR24 P Vacuolar protein sorting 37, yeast, homolog of, D 610039 REc
7.330 1 13 09 7q11.23 WBS, WMS, WS, DEL7q11, C7DELq11 C Williams-Beuren syndrome (chromosome 7q11.23 deletion syndrome) 194050 Ch contiguous gene syndrome Williams-Beuren syndrome (4)
7.331 1 24 09 7q11.23 WBSCR26 P Williams-Beuren syndrome chromosome region 26 612545 REc, H 5(Wbscr26)
7.332 1 24 09 7q11.23 WBSCR27 P Williams-Beuren syndrome chromosome region 27 612546 REc, H 5(Wbscr27)
7.333 1 24 09 7q11.23 WBSCR28 P Williams-Beuren syndrome chromosome region 28 612547 REc, H 5(Wbscr28)
7.334 9 21 17 7q11.23 YWHAG, EIEE56 P Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma isoform 605356 A, R Epileptic encephalopathy, early infantile, 56, 617665 (3)
7.335 10 10 17 7q11.23 ZP3, ZP3A, ZP3B, OOMD3 C Zona pellucida glycoprotein-3 (sperm receptor) 182889 REa, A Oocyte maturation defect 3, 617712 (3) 5(Zp3)
7.336 2 2 16 7q11.23-q21.11 PHTF2 P Putative homeodomain transcription factor 2 616785 REc
7.337 6 23 15 7q21.11 PCLO, PCH3 C Piccolo, mouse, homolog of 604918 R, REc, Fd mutation identified in 1 PCHD3 family ?Pontocerebellar hypoplasia, type 3, 608027 (3)
7.338 6 24 16 7q31.1 PPP1R3A, PPP1R3 P Protein phosphatase 1, regulatory subunit 3A 600917 R Insulin resistance, severe, digenic, 125853 (3)
7.339 4 12 18 7q21.12 ADAM22, EIEE61 P A disintegrin and metalloproteinase domain 22 603709 R mutation identified in 1 EIEE61 patient ?Epileptic encephalopathy, early infantile, 61, 617933 (3)
7.340 10 12 14 7q11.23 APTR P Alu-mediated CDKN1A/p21 transcriptional regulator, noncoding 616048 REc
7.341 8 1 17 7q21.3 BHLHA15, MIST1 P Basic helix-loop-helix family, member A15 608606 REc
7.342 1 2 08 7q21.3 CASD1, C7orf12 P CAS1 domain-containing protein 1 611686 REc
7.343 8 19 13 7q21.13 CLKDN12 P Claudin 12 611232 REc
7.344 4 6 18 7q22.1 EPO, MVCD2, ECYT5, DBAL C Erythropoietin 133170 REa, A, REb, Fd mutation identified in 1 DBAL family {Microvascular complications of diabetes 2}, 612623 (3); Erythrocytosis, familial, 5, 617907 (3); ?Diamond-Blackfan anemia-like, 617911 (3) 5(Epo)
7.345 1 12 99 7q21.13 FZD1 P Frizzled, Drosophila, homolog of, 1 603408 A
7.346 6 1 88 7q21.11 GNAI1 C Guanine nucleotide-binding protein (G protein), alpha-inhibiting activity polypeptide-1 139310 REa, A 5(Gnai1)
7.347 2 10 00 7q22.1 GNB2 C Guanine nucleotide-binding protein, beta polypeptide-2 139390 REa, REn 30-70kb from EPO 5(Gnb2)
7.348 8 9 17 7q21.11 MAGI2, AIP1, KIAA0705 P Membrane-associated guanylate kinase, WW and PDZ domains-containing, 2 606382 R Nephrotic syndrome 15, 617609 (3)
7.349 1 27 11 7q21 MAGI2IT, PR47 P MAGI2 intronic transcript 608950 REc
7.350 12 22 05 7q21.3 PEG10, KIAA1051 C Paternally expressed gene 10 609810 R, REc 6(Peg10)
7.351 7 26 16 7q21.2 SAMD9, NFTC, MIRAGE C Sterile alpha motif domain-containing protein 9 610456 REn Tumoral calcinosis, familial, normophosphatemic, 610455 (3); MIRAGE syndrome, 617053 (3)
7.352 9 9 03 7q21.3 SGCE, DYT11 C Sarcoglycan, epsilon 604149 R, H, Fd pseudogene on 2q21; maternally imprinted Dystonia-11, myoclonic, 159900 (3) 6(Sgce)
7.353 1 31 00 7q21.13 STEAP P Six-transmembrane epithelial antigen of the prostate 604415 R
7.354 1 2 03 7q21.13 STEAP2, STAMP1, IPCA1, PCANAP1 P Six-transmembrane epithelial antigen of prostate 2 605094 REc
7.355 8 22 07 7q21.12 STEAP4, STAMP2, TIARP P Six-transmembrane epithelial antigen of prostate 4 611098 REc
7.356 2 17 09 7q21 STQTL11 P Stature quantitative trait locus 11 612223 Fd associated with rs2282978 {Stature QTL 11} (2)
7.357 2 26 08 7q21.2 AKAP9, YOTIAO, AKAP450 P A-kinase anchor protein 9 604001 REc mutation identified in 1 LQT11 family ?Long QT syndrome-11, 611820 (3)
7.358 3 15 10 7q22.1 ARPC1A, SOP2L P Actin-related protein 2/3 complex, subunit 1A 604220 REc
7.359 10 25 17 7q22.1 ARPC1B, ARC41, PLTEID P Actin-related protein 2/3 complex, subunit 1B 604223 REc Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3)
7.360 7 17 01 7q21.3 ASB4 P Ankyrin repeat-containing SOCS box protein 4 605761 REc 6(Asb4)
7.361 8 5 97 7q21.11 CACNA2, CACNL2A C Calcium channel, voltage-dependent, L type, alpha 2/delta subunit 114204 Psh, Fd, A
7.362 6 6 00 7q22.1 CPSF4, CPSF30, NEB1 P Cleavage-polyadenylation specificity factor 4, 30kD 603052 R
7.363 11 5 14 7q21.2 CDK6, PLSTIRE, MCPH12 C Cyclin-dependent kinase 6 603368 R, REc, Psh mutation identified in 1 MCPH12 family ?Microcephaly 12, primary, autosomal recessive, 616080 (3)
7.364 5 2 16 7q21.2 ERVW1, ERVWE1, HERVW P Endogenous retroviral family W, member 1 (syncytin) 604659 REc
7.365 8 5 97 7q21-q22 MHS3 P Malignant hyperthermia susceptibility 3 154276 Fd ?mutation in CACNA2 {Malignant hyperthermia susceptibility 3} (2)
7.366 10 28 15 7q21.2 PEX1, ZWS1, PBD1A, PBD1B, HMLR1 C Peroxisome biogenesis factor-1 602136 Ch, REc Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3); Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3); Heimler syndrome 1, 234580 (3)
7.367 8 9 99 7q21.3 TAC1, TAC2, NKNA C Tachykinin 1 (substance K; neurokinin A; neurokinin 2; neuromedin L; neuropeptide gamma; tachykinin 2) 162320 REa, A, H 6(Nkna)
7.368 9 28 96 7q22.1 ZNF36, KOX18 P Zinc finger protein-36 (KOX 18) 601260 A, REc
7.369 9 28 96 7q22.1 ZNF38, KOX25 P Zinc finger protein-38 (KOX 25) 601261 A, REc
7.370 12 24 13 7q21.3 ASNS, ASNSD C Asparagine synthetase 108370 S, REa, A temperature sensitive G1 mutant Asparagine synthetase deficiency, 615574 (3)
7.371 12 7 12 7q21.12 ABCB4, PGY3, MDR3, ICP3 C ATP-binding cassette, subfamily B, member 4 (P-glycoprotein-3/multiple drug resistance-3) 171060 RE within 500kb of MDR1 Cholestasis, progressive familial intrahepatic 3, 602347 (3); Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3); Gallbladder disease 1, 600803 (3)
7.372 5 4 12 7q21.12 ABCB1, PGY1, MDR1, IBD13, CLCs C ATP-binding cassette, subfamily B, member 1 (P-glycoprotein-1/multiple drug resistance-1) 171050 REa, A, REb {Colchicine resistance}, 120080 (3); {Inflammatory bowel disease 13}, 612244 (3) 5(Pgy1)
7.373 7 11 01 7q21.12 CROT, COT P Carnitine octanoyltransferase 606090 REc
7.374 8 24 09 7q21.11 HGF, DFNB39 C Hepatic growth factor 142409 REb, A, REa Deafness, autosomal recessive 39, 608265 (3)
7.375 6 4 89 7q21.12 SRI, SCN P Sorcin (class 4 gene) 182520 REa, H
7.376 6 4 98 7q21.11-q21.12 GRM3 P Glutamate receptor, metabotropic-3 601115 A
7.377 1 30 01 7q22.1 SMURF1 P SMAD ubiquitination regulatory factor 1 605568 REc
7.378 9 1 16 7q21.11 CD36, CHDS7, BDPLT10 C CD36 antigen (collagen type I) 173510 A, REc [Macrothrombocytopenia] (1); Platelet glycoprotein IV deficiency, 608404 (3); {Malaria, cerebral, susceptibility to}, 611162 (3); {Malaria, cerebral, reduced risk of}, 611162 (3); {Coronary heart disease, susceptibility to, 7}, 610938 (3)
7.379 7 17 14 7q21.11 GNAT3, GDCA P Guanine nucleotide-binding protein, alpha-transducing activity polypeptide 3 139395 REc
7.380 8 21 91 7q11.21 GUSB, MPS7 C Glucuronidase, beta- 611499 S, D, EM Mucopolysaccharidosis VII, 253220 (3) 5(Gus)
7.381 6 11 13 7q21.11 SEMA3A, SEMAD, COLL1, HH16 P Semaphorin 3A 603961 REc, R {Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3)
7.382 4 21 15 7q21.11 SEMA3C P Semaphorin 3C 602645 REc
7.383 4 21 15 7q21.11 SEMA3D P Semaphorin 3D 609907 R, REc
7.384 8 8 13 7q21.12 DMTF1, DMP1 P Cyclin D-binding MYB-like transcription factor 1 608491 REc
7.385 1 13 16 7q21.11 SEMA3E, SEMAH, KIAA0331 P Semaphorin 3E 608166 R, REc mutation identified in 1 CHARGE patient ?CHARGE syndrome, 214800 (3)
7.386 9 8 11 7q21.12 KIAA1324L, EIG121L P KIAA1324-like gene 614048 REc
7.387 1 9 17 7q21.12 RUNDC3B, RPIP9 P RUN domain-containing protein 3B 617295 REc
7.388 3 12 07 7q21.12 SLC25A40 P Solute carrier family 25, member 40 610821 REc 5(Slc25a40)
7.389 6 26 16 7q21.12 TMEM243, C7orf23, MMTRAG P Transmembrane protein 243 616993 REc
7.390 6 23 15 7q21.12 TP53TG1 P TP53 target gene 1 616403 REc
7.391 4 17 13 7q21.13 CDK14, PFTK1, PFTAIRE1, KIAA0834 P Cyclin-dependent kinase 14 610679 R
7.392 4 18 07 7q21.13 GTPBP10, OBGH2 P GTP-binding protein 10 610920 R, REc
7.393 4 22 15 7q21.2 GATAD1, ODAG, CMD2B P GATA zinc finger domain-containing protein 1 614518 REc mutation identified in 1 GATAD1 family ?Cardiomyopathy, dilated, 2B, 614672 (3)
7.394 10 7 13 7q21.2 MTERF P Transcription termination factor, mitochondrial 602318 REc
7.395 8 1 16 7q21.2 SAMD9L, ATXPC P Sterile alpha motif domain-containing 9-like 611170 REc Ataxia-pancytopenia syndrome, 159550 (3)
7.396 3 5 03 7q21.2 CYP51A1, CYP51 P Cytochrome P450, family 51, subfamily A, polypeptide 1 (lanosterol 14-alpha-demethylase) 601637 Psh, REc
7.397 9 8 11 7q21.2 HEPACAM2, MIKI P Hepacam family member 2 614133 REc
7.398 4 21 11 7q21.2-q21.3 SHFM1, SHFD1, SHSF1 C Split hand/foot malformation (ectrodactyly) type 1 183600 Ch contiguous gene deletion syndrome Split hand/foot malformation 1 (4)
7.399 7 20 15 7q21.2-q21.3 VPS50, CCDC132, KIAA1861 P VPS50, EARP/GARPII complex subunit 616465 REc
7.400 9 4 98 7q22.1 TRRAP P Transformation/transcription domain-associated protein 603015 R
7.401 5 22 14 7q21.3 ACN9 P Acn9, S. cerevisiae, homolog of 615773 REc
7.402 11 22 99 7q21.12 ASK, DBF4 P Activator of S-phase kinase 604281 A 5(Dbf4)
7.403 7 14 14 7q21.3 BET1 P Bet1 golgi vesicular membrane-trafficking protein 605456 REc
7.404 2 13 14 7q21.3 BRI3 P Brain protein I3 615628 REc
7.405 3 16 99 7q21.3 CALCR, CRT C Calcitonin receptor 114131 A, Psh not deleted in Williams syndrome {Osteoporosis, postmenopausal, susceptibility}, 166710 (3) 6(Calcr)
7.406 5 25 13 7q21.3 GNG11 P Guanine nucleotide-binding protein, gamma 11 604390 REc
7.407 6 16 99 7q21.3 GNGT1 P Guanine nucleotide-binding protein, gamma-transducing activity polypeptide 1 189970 Psh, REc
7.408 3 30 12 7q21.3 MIR489 P Micro RNA 489 614523 REc in intron 4 of CALCR
7.409 7 8 10 7q21.3 PON1, PON, ESA, MVCD5 C Paraoxonase-1 168820 F, Fd, REc {Coronary artery disease, susceptibility to} (3); {Coronary artery spasm 2, susceptibility to (3); {Organophosphate poisoning, sensitivity to} (3); {Microvascular complications of diabetes 5}, 612633 (3) 6(Pon1)
7.410 9 9 98 7q21.3 PON2 C Paraoxonase-2 602447 REc {Coronary artery disease, susceptibility to} (3)
7.411 9 9 98 7q21.3 PON3 C Paraoxonase-3 602720 REc
7.412 10 20 04 7q21.3 PPP1R9A, NRBI, NRB1, KIAA1222 P Protein phosphatase 1, regulatory subunit 9A (neurabin I) 602468 R, REc
7.413 8 20 02 7q21.3 SLC25A13, CTLN2 P Solute carrier family 25 (mitochondrial carrier, citrin), member 13 603859 Fd, LD Citrullinemia, adult-onset type II, 603471 (3); Citrullinemia, type II, neonatal-onset, 605814 (3)
7.414 8 31 12 7q21.3 TECPR1, KIAA1358 P Tectonin beta-propeller repeat-containing 1 614781 R, REc
7.415 1 7 95 7q22.1 PCOLCE C Procollagen C-endopeptidase enhancer 600270 REa, A 5(Pcolce)
7.416 4 13 10 7q22.1 PAI1, PLANH1, SERPINE1 C Plasminogen activator inhibitor, type I 173360 REa, REb, Fd, A, D Plasminogen activator inhibitor-1 deficiency, 613329 (3); {Transcription of plasminogen activator inhibitor, modulator of} (3)
7.417 8 28 01 7q11.21 RCP P Calcitonin gene-related peptide receptor component protein 606121 REc
7.418 3 5 08 7q21.3-q22.1 BAIAP2L1, IRTKS P BAI1-associated protein 2-like 1 611877 REc
7.419 6 16 99 7q21.3 DNCI1 P Dynein, cytoplasmic, intermediate chain 1 603772 REc 6(Dnci1)
7.420 5 22 07 7q21.3 LMTK2, KPI2, BREK, KIAA1079 C Lemur tyrosine kinase 2 610989 R, REc
7.421 8 18 97 7q22.1 MCM7, MCM2 P Minichromosome maintenance deficient, S. cerevisiae, homolog of, 7 600592 A
7.422 9 20 95 7q22.1 NPTX2 P Pentraxin II 600750 A
7.423 11 4 98 7q21.3 PDK4 P Pyruvate dehydrogenase kinase, isoenzyme 4 602527 REc
7.424 11 29 17 7q21.3 SEM!, DSS1 P Proteasome 26S subunit SEM1 601285 D ?gene mutant in SHFM1
7.425 8 28 92 7q22.1 ACHE, YT C Acetylcholinesterase (YT blood group) 100740 Psh, A, Fd, REb blood group YT (112100) = epitope of ACHE [Blood group, Yt system], 112100 (3) 5(Ache)
7.426 12 24 08 7q22.1 ACTL6B, BAF53B P Actin-like 6B 612458 REc
7.427 1 31 01 7q22.1 APS P Adaptor protein containing PH and SH2 domains 605300 REc
7.428 5 16 07 7q22 AUTS1 C Autism, susceptibility to, 1 209850 Fd {Autism susceptibility 1} (2)
7.429 3 22 93 7q22.1 CUTL1, CDP P Cut, Drosophila, homolog of (CCAAT displacement protein) 116896 REa
7.430 2 16 12 7q21.3 DLX5, SHFM1D C Distal-less homeo box-5 600028 REa, A, D mutation identified in 1 family ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3) 6(Dlx5)
7.431 1 8 95 7q21.3 DLX6 P Distal-less homeo box-6 600030 REa, A
7.432 1 13 17 7q22.1 EPHB4, HTK, MYK1, HFASD P Ephrin receptor EphB4 (hepatoma transmembrane kinase) 600011 REa, REc {Hydrops fetalis, nonimmune, and/or atrial septal defect}, 617300 (3)
7.433 9 30 09 7q22.1 DNAJC2, ZRF1, MPP11 P DnaJ (Hsp40) homolog, subfamily C, member 2 605502 R, REc
7.434 9 9 08 7q22.1 FBXO24, FBX24 P F-box only protein 24 609097 REc 5(Fbxo24)
7.435 2 7 07 7q22.1 GAL3ST4 P Galactose-3-O-sulfotransferase 4 608235 REc
7.436 1 18 11 7q22 IBD11 P Inflammatory bowel disease 11 191390 Fd associated with MUC3A {Inflammatory bowel disease 11} (2)
7.437 3 14 14 7q22.3 KMT2E, MLL5 P Lysine (K)-specific methyltransferase 2E 608444 REc
7.438 10 13 09 7q22.1 MEPCE, BCDIN3 P Methylphosphate capping enzyme 611478 A
7.439 9 2 09 7q22.1 MIR93, MIRN9 P Micro RNA 93 612984 REc
7.440 9 3 09 7q22.1 MIR106B, MIRN106B P Micro RNA 106B 612983 REc
7.441 1 18 11 7q22.1 MUC3A P Mucin 3A, intestinal 158371 REa, A
7.442 2 12 01 7q22 MUC3B P Mucin 3B, intestinal 605633 A
7.443 1 4 08 7q22.1 MUC12, MUC11 P Mucin 12 604609 A
7.444 11 5 08 7q22.1 MUC17 P Mucin 17 608424 R
7.445 4 15 04 7q22 MYH16 C Myosin, heavy chain 16, skeletal muscle 608580 REc inactivated in humans; expressed in masticatory muscles in nonhuman primates
7.446 8 24 04 7q22 PAPA4 P Polydactyly, postaxial, type A4 608562 Fd highest lod with D7S1799 Polydactyly, postaxial, type A4 (2)
7.447 9 20 00 7q22.3 PIK3CG C Phosphatidylinositol 3-kinase, catalytic, gamma 601232 A
7.448 1 31 01 7q22.1 PILRA C Paired immunoglobulin-like receptor, alpha 605341 REc, R
7.449 1 31 01 7q22.1 PILRB P Paired immunoglobulin-like receptor, beta 605342 REc, REn
7.450 12 16 08 7q22.1 PLOD3, LH3 P Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (lysyl hydroxylase 3) 603066 REa, A previously assigned to 7q36 Lysyl hydroxylase 3 deficiency, 612394 (3) 5(Plod3)
7.451 9 30 09 7q22.1 POP7, RPP20 P Processing of precursor 7, S. cerevisiae, homolog of 606113 R, REc
7.452 5 23 95 7q22.3 PRKAR2B C Protein kinase, cAMP-dependent, regulatory, type II, beta 176912 Fd, A, REc
7.453 9 7 10 7q22.1 RASA4, CAPRI, GAPL, KIAA0538 P Ras p21 protein activator 4 607943 REc
7.454 6 23 15 7q22.1 RELN, RL, LIS2, ETL7 C Reelin 600514 A, REc Lissencephaly 2 (Norman-Roberts type), 257320 (3); {Epilepsy, familial temporal lobe, 7}, 616436 (3) 5(rl)
7.455 3 16 16 7q22.1 SLC12A9, CIP1, CCC6 P Solute carrier family 12 (potassium/chloride transporter), member 9 616861 Psh
7.456 2 23 12 7q22.1 SRRT, ARS2 P Serrate RNA effector molecule, arabidopsis, homolog of 614469 REc
7.457 4 8 16 7q22.1 STAG3, POF8 P Stromalin 3 608489 Psh, R, H, REc Premature ovarian failure 8, 615723 (3) 5(Stag3)
7.458 9 15 96 7q21.3 TFPI2 P Tissue factor pathway inhibitor-2 600033 A
7.459 5 3 00 7q22.1 TFR2, HFE3 P Transferrin receptor 2 604720 R Hemochromatosis, type 3, 604250 (3)
7.460 11 20 98 7q22.1 TRIP6, OIP1 P Thyroid hormone receptor interactor-6 602933 R
7.461 3 5 98 7q22.1 VGF P VGF nerve growth factor inducible 602186 A
7.462 6 19 98 7q22.1 ZAN P Zonadhesin 602372 A 5(Zan)
7.463 9 21 17 7q22.1 ZASP C ZO2-associated speckle protein 617677 REc 5(Zasp)
7.464 6 16 99 7q31.1 IFRD1 P Interferon-related developmental regulator 1 603502 REc
7.465 8 4 97 7q22.3 GPR22 P G protein-coupled receptor-22 601910 A
7.466 10 26 98 7q22.1 MPPB P Mitochondrial processing peptidase-beta 603131 REc
7.467 10 19 99 7q22.1 POLR2J P Polymerase II, RNA, subunit J 604150 REc
7.468 6 22 14 7q22.3-q31.1 SLC26A3, DRA, CLD C Solute carrier family 26 (sulfate transporter), member 3 126650 A, REc, Fd 5' and close to PDS Diarrhea 1, secretory chloride, congenital, 214700 (3)
7.469 9 14 89 7q22-q32 G7P1 P Kinase-like protein 148750 REa, Fd
7.470 11 4 04 7q22-q32 SCA18, SMNA P Spinal cerebellar ataxia 18 607458 Fd between D7S2418 and D7S1804 Spinocerebellar ataxia 18 (2)
7.471 9 9 08 7q33 CNOT4, NOT4 P CCR4-NOT transcription complex, subunit 4 604911 REc
7.472 7 20 12 7q22-qter NM, NCR C Neutrophil migration, abnormal 162820 D ?Neutrophil chemotactic response, abnormal (2)
7.473 7 18 14 7q22.1 AGFG2, HRBL, RABR P ADP-ribosylation factor GTPase-activating protein with FG repeats 2 604019 REc
7.474 3 16 10 7q22.1 ALKBH4, ABH4 P AlkB, E. coli, homolog of, 4 613302 REc
7.475 1 14 13 7q22.1 AP1S1, CLAPS1, AP19, MEDNIK P Adaptor-related protein complex 1, sigma 1 subunit 603531 REa, REc MEDNIK syndrome, 609313 (3)
7.476 4 27 12 7q22.1 AP4M1, SPG50, CPSQ3 C Adaptor-related protein complex 4, mu-1 subunit 602296 REc Spastic paraplegia 50, autosomal recessive, 612936 (3)
7.477 3 18 94 7q22.1 AZGP1, ZAG C Alpha-2-glycoprotein, zinc 194460 REa, A
7.478 5 25 13 7q22.1 BUD31, G10 P Bud31, S. cerevisiae, homolog of 603477 REc
7.479 6 22 14 7q22.1 CLDN15 P Claudin 15 615778 REc
7.480 4 23 09 7q22.1 CNPY4, PRAT4B, MGC40499 P Canopy 4, zebrafish, homolog of 610047 R, REc
7.481 12 22 17 7q21.3 COL1A2, EDSCV, EDSARTH2 C Collagen I, alpha-2 polypeptide 120160 S, REa, D, A ~17cM from CF Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3); Osteogenesis imperfecta, type IV, 166220 (3); imperfecta, type III, 259420 (3); Osteogenesis imperfecta, type II, 166210 (3); {Osteoporosis, postmenopausal}, 166710 (3); Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3) 6(Cola2)
7.482 7 18 12 7q22.1 COPS6, CSN6 P COP9 signalosome, subunit 6 614729 REc
7.483 12 14 95 7q22.1 CYP3A4 C Cytochrome P450, subfamily IIIA (nifedipine oxidase) polypeptide 4 124010 REa, D, Fd, A 6(Cyp3)
7.484 1 25 05 7q22.1 CYP3A5, P450PCN3 C Cytochrome P450, subfamily IIIA, polypeptide 5 605325 REc, REn {Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3)
7.485 12 7 03 7q22.1 CYP3A7 P Cytochrome P450, subfamily IIIA, polypeptide 7 605340 REn
7.486 12 11 01 7q22.1 CYP3A43 P Cytochrome P450, subfamily IIIa, polypeptide 43 606534 REc
7.487 6 13 12 7q22.1 EBXL13, FBL13 P F-box and leucine-rich repeat protein 13 609080 REc 5(Fbxl13)
7.488 8 18 08 7q22.1 GAEC1 P Gene amplified in esophageal cancer 1 612130 REc
7.489 6 10 08 7q22.1 GIGYF1 P GRB10-interacting GYF protein 1 612064 REc, H 5(Gigyf1)
7.490 4 1 08 7q22.1 GJC3, CX30.2, CX31.3 P Gap junction protein, gamma-3 611925 R, REc
7.491 9 8 11 7q22.1 KPNA7 P Karyopherin alpha 7 614107 REc
7.492 12 28 08 7q22.2-q22.3 LHFPL3 P LHFP-like protein 3 609719 R, REc
7.493 4 17 13 7q22.1 LRWD1, ORCA P Leucine-rich repeats- and WD repeat domain-containing protein 1 615167 REc 5(Lrwd1)
7.494 3 23 09 7q22.1 MIR25, MIRN25 P Micro RNA 25 612150 REc
7.495 8 3 12 7q22.1 MOGAT3, MGAT3 P Monoacylglycerol O-acyltransferase 3 610184 REc
7.496 11 23 16 7q22.1 MYL10, PLRLC C Myosin light chain 10 617177 REc
7.497 10 7 08 7q22.1 NAPEPLD P N-acyl phosphatidylethanolamine-hydrolyzing phospholipase D 612334 REc
7.498 6 22 14 7q22.1 NAT16 P N-acetyltransferase 16 615783 REc
7.499 8 18 08 7q22.1 NFE4 P Transcription factor NFE4 612133 REc
7.500 12 10 13 7q22.1 NYPA1 P Neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1 615477 REc
7.501 7 22 09 7q22.1 ORAI2, MEM142B, C7orf19 P ORAI calcium release-activated calcium modulator 2 610929 REc
7.502 2 18 98 7q22.1-q22.2 ORC5, ORC5L P Origin recognition complex, subunit 5, S. cerevisiae, homolog of 602331 REa, Psh, A, REc
7.503 9 30 09 7q22.1 PDAP1, PAP1, PAP P PDGFA-associated protein 1 607075 R, REc
7.504 11 11 14 7q22.1 PMS2P1, PMS2L1, PMS3 P Postmeiotic segregation increased 2 pseudogene 1 605038 Psh, A, REc
7.505 4 26 17 7q22.1 PRKRIP1, C114 P PRKR-interacting protein 1, IL11-inducible 617458 REc
7.506 8 21 12 7q22.1 PTCD1, KIAA0632 c Pentatricopeptide repeat domain 1 614774 R, REc
7.507 7 27 16 7q22.1 PVRIG, CD112R, C7orf15 P Poliovirus receptor-related immunoglobulin domain-containing protein 617012 REc
7.508 6 9 15 7q22.1 SLC26A5, PRES, DFNB61 P Solute carrier family 26, member 5 604943 REc mutation identified in 1 DFNB61 family ?Deafness, autosomal recessive 61, 613865 (3)
7.509 8 28 17 7q22.1 SPDYE3, SPDYB2 P SPEEDY/RINGO cell cycle regulator family, member E3 617625 REc 5(Spdye3)
7.510 9 22 16 7q22.1 TAF6, TAF2E, TAFII80, ALYUS P TAF6 RNA polymerase II, TATA box-binding protein-associated factor, 80kD 602955 R, REc Alazami-Yuan syndrome, 617126 (3)
7.511 6 26 16 7q22.1 TRIM56 P Tripartite motif-containing protein 56 616996 REc
7.512 5 24 13 7q22.1 ZKSCAN5, ZFP95, KIAA1015 C Zinc finger protein with KRAB and SCAN domains 5 611272 REc, R, A 5(Zkscan5)
7.513 11 2 04 7q22.1 TTC11, FIS1 P Tetratricopeptide repeat domain 11 609003 R, REc
7.514 10 13 09 7q22.1 UFSP1 P UFM1-specific protease 1 611481 REc
7.515 9 30 09 7q22.1 ZNF3 P Zinc finger protein-3 194510 R, REc ?relation to ZNF4, ZNF5; previous assignment to Chr.5
7.516 3 1 18 7q22.1 ZNF655, VIK P Zinc finger protein 655 617891 REc
7.517 11 4 98 7q22.1 PSMC2, MSS1, S7 P Proteasome 26S subunit, ATPase, 2 154365 A
7.518 4 8 08 7q22.3 NAMPT, PBEF1, VF, PBEF P Nicotinamide phosphoribosyltransferase 608764 R, REc
7.519 10 9 08 7q22.3 CBLL1, HAKAI, RNF188 P Cas-Br-M murine ectopic retroviral transforming sequence like-1 606872 R, REc
7.520 2 2 14 7q22.3 CDHR3 P Cadherin-related family, member 3 615610 REc
7.521 12 22 15 7q22.3 HBP1 P HMG-box transcription factor 1 616714 REc
7.522 5 29 12 7q22.3 MPVQTL6 P Mean platelet volume quantitative trait locus 6 614646 Fd associated with rs342293 Mean platelet volume QTL6 (2)
7.523 3 12 15 7q22.3 PUS7, KIAA1897 P Pseudouridylate synthase 7, putative 616261 REc
7.524 7 19 12 7q22.3 RINT1 P RAD50-interacting protein 1 610089 REc
7.525 12 1 15 7q22.3 SYPL1, SYPL P Synaptophysin-like 1 616665 REc
7.526 3 1 06 7q22.3-q31.1 CMD1Q P Cardiomyopathy, dilated, 1Q 609915 Fd between D7S2545 and D7S2554 Cardiomyopathy, dilated, 1Q (2)
7.527 11 19 13 7q31 AUTS9 P Autism, susceptibility to, 9 611015 Fd max lod near D7S530 {Autism, susceptibility to, 9} (2)
7.528 1 18 11 7q22.3 COG5, GOLTC1, GTC90, CDG2I P Component of oligomeric golgi complex 5 606821 REc Congenital disorder of glycosylation, type IIi, 613612 (3)
7.529 12 20 05 7q31.31 CTTNBP2, CORTBP2, KIAA1758 P Cortactin-binding protein 2 609772 REn
7.530 5 20 99 7q31 DFNB14 P Deafness, autosomal recessive 14 603678 Fd ?same as DFNB17 Deafness, autosomal recessive 14 (2)
7.531 9 9 98 7q31 DFNB17 P Deafness, autosomal recessive 17 603010 Fd Deafness, autosomal recessive 17 (2)
7.532 4 9 03 7q31.1 DOCK4, KIAA0716 P Dedicator of cytokinesis 4 607679 REc 12(Dock4)
7.533 11 4 98 7q31.33 GPR37 P G protein-coupled receptor-37 602583 REc
7.534 9 15 00 7q31.1 GPR85, SREB2 P G protein-coupled receptor-85 605188 R
7.535 5 4 00 7q31.32 HYAL4 P Hyaluronoglucosaminidase 4 604510 A, REc
7.536 10 6 08 7q31.1 IMMP2L, IMP2 P Inner mitochondrial membrane peptidase, subunit 2, S. cerevisiae, homolog of 605977 Ch
7.537 1 27 03 7q31.31 ING3, P47ING3 P Inhibitor of growth family, member 3 607493 REc
7.538 11 27 00 7q31.31 KCND2, KIAA1044 C Potassium voltage-gated channel, Shal-related subfamily, member 2 605410 R
7.539 4 21 16 7q31.2 MET, DFNB97, OSFD C Oncogene MET 164860 REa, A, F mutation identified in 1 DFNB97 family Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3); Hepatocellular carcinoma, childhood type, somatic, 114550 (3); ?Deafness, autosomal recessive 97, 616705 (3); {Osteofibrous dysplasia, susceptibility to}, 607278 (3) 6(Met)
7.540 5 4 15 7q31.1 PNPLA8, MMLA P Patatin-like phospholipase domain-containing protein 8 612123 REc mutation identified in 1 MMLA family ?Mitochondrial myopathy with lactic acidosis, 251950 (3)
7.541 7 6 12 7q22.3 SLC26A4, PDS, DFNB4, EVA, TDH2B C Solute carrier family 26 (sulfate transporter), member 4 605646 Fd some patients have digenic mutations with FOXI1 Pendred syndrome, 274600 (3); Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3)
7.542 11 13 95 7q31.32 SPAM1 P Sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 600930 A
7.543 3 23 06 7q33 STRA8 P Stimulated by retinoic acid 8, mouse, homolog of 609987 REc
7.544 11 26 01 7q31.1 FOXP2, SPCH1, TNRC10, CAGH44 C Forkhead box P2 605317 Fd, Ch, REc Speech-language disorder-1, 602081 (3)
7.545 9 8 11 7q33 EXOC4, SEC8, KIAA1699 P Exocyst complex component 4 608185 REc, R
7.546 11 15 16 7q31.32 TAS2R16, T2R16 C Taste receptor type 2, member 16 604867 REc [Beta-glycopyranoside tasting] (3); {Alcohol dependence, susceptibility to}, 103780 (3) 6(T2r18)
7.547 6 10 94 7q31.2 WNT2, INT1L1 P Wingless-type MMTV integration site family, member 2 147870 C isolated by CMGT with MET 6(Irp, Wnt2)
7.548 12 4 90 7q36.1 ABP1 P Amiloride-binding protein-1 104610 A
7.549 3 20 08 7q32.1 CCDC136, NAG6, KIAA1793 P Coiled-coil domain-containing protein 136 611902 REn
7.550 3 7 13 7q31.1 DLD, LAD, PHE3, DLDD C Dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex) 238331 REa Dihydrolipoamide dehydrogenase deficiency, 246900 (3) 12(Dld)
7.551 8 28 01 7q31.32 SLC13A1, NAS1 P Solute carrier family 13 (sodium/sulfate symporters), member 1 606193 R
7.552 7 22 16 7q32.1 SMOH, SMO, CRJS P Smoothened, Drosophila, homolog of 601500 A Basal cell carcinoma, somatic, 605462 (3); Curry-Jones syndrome, somatic mosaic, 601707 (3)
7.553 4 16 11 7q33 BPGM P 2,3-bisphosphoglycerate mutase 613896 A Erythrocytosis due to bisphosphoglycerate mutase deficiency, 222800 (3)
7.554 1 30 18 7q31.1 BMT2, SAMTOR, C7orf60 P Base methyltransferase of 25S rRNA 2, S. cerevisiae, homolog of 617855 REc
7.555 4 10 14 7q31.2 CAV1, BSCL3, CGL3, PPH3, LCCNS C Caveolin-1 601047 REc mutation identified in 1 CGL3 family; mutation identified in 1 LCCNS family ?Lipodystrophy, congenital generalized, type 3, 612526 (3); Pulmonary hypertension, primary, 3, 615343 (3); ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, 606721 (3)
7.556 3 29 99 7q31.2 CAV2 P Caveolin-2 601048 REc 6(Cav2)
7.557 2 1 11 7q31.1 DNAJB9, MDG1 P DnaJ, E. coli, homolog of, subfamily B, member 9 (microvascular endothelial differentiation gene-1) 602634 REc previously assigned to chr.14 by FISH
7.558 6 2 15 7q31.1 LAMB4 P Laminin, beta-4 616380 REc
7.559 3 29 12 7q31.1-q31.2 MDFIC, HIC P MYOD family inhibitor domain-containing protein 614511 REc
7.560 11 7 01 7q31.2 ST7, TSG7, RAY1, FAM4A1 P Suppressor of tumorigenicity 7 (breast) 600833 C, D
7.561 3 29 10 7q31.31 TSPAN12, NET2, EVR5 P Tetraspanin 12 613138 REc Exudative vitreoretinopathy 5, 613310 (3) 6(Tspan12)
7.562 1 20 09 7q31.1 THAP5 P THAP domain-containing protein 5 612534 REc
7.563 1 29 01 7q31.1 ZNF277 P Zinc finger protein-277 605465 REn
7.564 1 21 97 7q31.1 NRCAM P Neuronal cell adhesion molecule 601581 A
7.565 4 23 13 7q31.1 LAMB1, LIS5 C Laminin, beta-1 150240 REa, A, Ch Lissencephaly 5, 615191 (3) 1(Lamb1)
7.566 4 9 18 7q31.2 CFTR, ABCC7, CF, MRP7 C Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette, subfamily C, member 7) 602421 F, Fd distal and 5' to MET Cystic fibrosis, 219700 (3); Congenital bilateral absence of vas deferens, 277180 (3); Sweat chloride elevation without CF (3); {Pancreatitis, hereditary}, 167800 (3); {Hypertrypsinemia, neonatal} (3); {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3) 6(Cftr)
7.567 7 11 01 7q31.2 TES P Testin 606085 REc 6(Tes)
7.568 7 17 14 7q31.2 TFEC, TFECL P Transcription factor EC 604732 REc
7.569 2 19 97 7q31.2 CAPZA2, CAPPA2 P Capping protein (actin filament) muscle Z-line, alpha 2 601571 Psh, REn 6(Cappa2)
7.570 8 9 00 7q31.32 AASS P Alpha-aminoadipic semialdehyde synthase 605113 R Hyperlysinemia, 238700 (3); Saccharopinuria, 268700 (1)
7.571 1 30 07 7q31.31 ANKRD7 P Ankyrin repeat domain-containing protein 7 610731 REc
7.572 5 12 99 7q32.1 ARF5 P ADP-ribosylation factor 5 103188 REc
7.573 4 30 09 7q31.2 ASZ1, ALP1, ANKL1, GASZ P Ankyrin repeat, SAM, and basic leucine zipper domain-containing 1 605797 REc
7.574 3 24 06 7q31.32 CADPS2, KIAA1591 P Calcium-dependent activator protein for secretion 2 609978 A
7.575 5 28 13 7q31.31 FAM3C P Family with sequence similarity 3, member C 608618 REc, R
7.576 2 6 14 7q31.32 FEZF1, FEZ, ZNF312B, HH22 P FEZ family zinc finger protein 1 613301 REc Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3)
7.577 11 25 14 7q31.32 LMOD2, CLMOD P Leiomodin 2 608006 REc
7.578 6 22 14 7q32.1 FSCN3 P Fascin actin-bundling protein 3, testicular 615800 A
7.579 12 11 12 7q32.1 LEP, OB, LEPD C Leptin (murine obesity homolog) 164160 H, REa, REc, A in mouse cen-Cola-2-Met-ob-Cpa-Tcrb-tel Obesity, morbid, due to leptin deficiency, 614962 (3) 6(ob)
7.580 1 23 01 7q32.1 P100, SND1 C EBNA-2 coactivator p100 602181 REc, REa, A
7.581 2 25 03 7q31.32 PTPRZ1, PTP18 P Protein-tyrosine phosphatase, receptor-type, zeta-1, polypeptide 176891 REa, A {H. pylori infection, susceptibility to}, 600263 (1)
7.582 2 17 09 7q31.3 STQTL2 P Stature quantitative trait locus 2 606256 Fd max lod at D7S195 {Stature QTL 2} (2)
7.583 2 25 15 7q31.32 WASL, NWASP P Wiskott-Aldrich syndrome gene-like 605056 REc
7.584 7 19 12 7q31.31 WNT16 P Wingless-type MMTV integration site family, member 16 606267 REc
7.585 3 19 14 7q31.31 LSM8 P LSM8, S. cerevisiae, homolog of, U6 small nuclear RNA associated 607288 REc
7.586 3 31 11 7q32.1 IMPDH1, RP10, LCA11 C Inosine-5'-monophosphate dehydrogenase, type I 146690 Psh, A, Fd pseudogene on 16p13.13 Retinitis pigmentosa 10, 180105 (3); Leber congenital amaurosis 11, 613837 (3)
7.587 8 30 10 7q32.1 OPN1SW, BCP, CBT C Blue cone pigment (opsin 1, short-wave-sensitive) 613522 REa, A Colorblindness, tritan, 190900 (3) 6(Bcp)
7.588 4 28 00 7q34 TAS2R3, T2R3 P Taste receptor type 2, member 3 604868 REc
7.589 4 28 00 7q34 TAS2R4, T2R4 P Taste receptor type 2, member 4 604869 REc 6(T2R8)
7.590 1 31 01 7q34 TAS2R5, T2R5 P Taste receptor type 2, member 5 605062 REc
7.591 6 4 98 7q31.33 GRM8 P Glutamate receptor, metabotropic-8 601116 A
7.592 9 24 15 7q31.33 POT1, CMM10, GLM9 P Protection of telomeres 1 606478 REc {Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3); {Glioma susceptibility 9}, 616568 (3)
7.593 10 6 09 7q32 BCC6 P Basal cell carcinoma, susceptibility to, 6 613063 Fd associated with rs157935 {Basal cell carcinoma, susceptibility to, 6} (2)
7.594 2 9 12 7q32.2 CEP41, TSGA14, JBTS15 P Centrosomal protein, 41kD 610523 REc Joubert syndrome 15, 614464 (3)
7.595 5 26 13 7q32.2 COPG2IT1, CIT1 P Coatomer protein complex, subunit gamma-2, intronic transcript 1 610581 REc
7.596 3 20 03 7q32.2 CPA4, CPA3 P Carboxypeptidase A4 607635 RE
7.597 11 12 96 7q32.2 MEST, PEG1 C Mesoderm specific transcript, mouse, homolog of 601029 A, H, REc imprinted maternally 6(Mest)
7.598 1 13 99 7q32.1 CALU P Calumenin 603420 7(Calu)
7.599 4 19 01 7q32 CATR1 P CATR tumorigenic conversion 1 600676 REc
7.600 2 1 00 7q32.2 COPG2 P Coatomer protein complex, subunit gamma-2 604355 REc
7.601 4 19 01 7q32.2 CPA2 P Carboxypeptidase A2, pancreatic 600688 REc
7.602 7 22 16 7q32.1 FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5 C Filamin C (actin-binding protein-280) 102565 REa, R, H Myopathy, myofibrillar, 5, 609524 (3); Myopathy, distal, 4, 614065 (3); Cardiomyopathy, familial hypertrophic, 26 (3); Cardiomyopathy, familial restrictive 5, 617047 (3) 6(Fln2)
7.603 9 24 08 7q32.1 IRF5, IBD14, SLEB10 C Interferon regulatory factor 5 607218 REc {Inflammatory bowel disease 14}, 612245 (3); {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
7.604 2 9 01 7q32.3 MKLN1 C Muskelin 1 605623 REc, A 6(Mkln1)
7.605 5 8 97 7q31.32 NDUFA5, UQOR13 P NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13) 601677 REa, A
7.606 4 1 96 7q32.2 NRF1 C Nuclear respiratory factor 1 600879 Psh, A earlier location = 7q31
7.607 8 5 15 7q32.1 PAX4, MODY9, KPD C Paired box homeotic gene-4 167413 REa, A Maturity-onset diabetes of the young, type IX, 612225 (3); Diabetes mellitus, type 2, 125853 (3); {Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3) 6(Pax4)
7.608 9 12 11 7q32 PBC4 P Biliary cirrhosis, primary, 4 614220 Fd associated with rs10488631 Biliary cirrhosis, primary, 4 (2)
7.609 9 28 05 7q32 PPR3 P Photoparoxysmal response 3 609573 Fd max lod at D7S1804 Photoparoxysmal response 3 (2)
7.610 4 19 01 7q32.2 UBE2H, UBCH2, UBC8 C Ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8) 601082 REa, REc
7.611 1 23 09 7q33 AKR1D1, SRD5B1, CBAS2 P Bile acid synthesis defect, congenital, 2 604741 REc Bile acid synthesis defect, congenital, 2, 235555 (3)
7.612 11 4 98 7q32.3 PODXL, PCLP P Podocalyxin-like 602632 A, Psh
7.613 4 19 11 7q32-q33 SCA32 P Spinocerebellar ataxia 32 613909 Fd between rs3847110 and rs2241728 Spinocerebellar ataxia 32 (2)
7.614 4 24 08 7q34 MRPS33 P Mitochondrial ribosomal protein S33 611993 REc 4 pseudogenes
7.615 8 14 15 7q33-q34 TRIM24, TIF1, TIF1A, PTC6 P Tripartite motif-containing protein 24 (Transcriptional intermediary factor 1) 603406 A fused with RET to form PTC6
7.616 11 5 97 7q34-q35 EPHA1, EPHT1 C eph tyrosine kinase 1 (erythropoietin-producing hepatoma amplified sequence; oncogene EPH; ephrin receptor EphA1) 179610 REa, A
7.617 7 13 89 7q34 PIP P Prolactin-inducible protein 176720 REa, A
7.618 6 11 91 7q32.2 CPA1 C Carboxypeptidase A 114850 REa, Fd both CPA and TRY1 = serine proteases 6(Cpa)
7.619 8 26 16 7q32.1 AHCYL2 P Adenosylhomocysteinase-like 2 616520 REc
7.620 4 23 09 7q32.1 GCC1, GCC88 P GRIP and coiled-coil domains-containing protein 1 607418 R
7.621 3 13 18 7q32.1 HILPDA, HIG2 P Hypoxia-inducible lipid droplet-associated protein 617905 REc
7.622 2 25 15 7q32.1 LRRC4 P Leucine-rich repeat-containing protein 4 610486 REc
7.623 2 9 15 7q32.1 RBM28, ANES C RNA-binding motif protein 28 612074 R, REc, Fd mutation identified in 1 ANES family ?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3)
7.624 3 23 18 7q32.1 STRIP2, FAR11B, FAM40B P Striatin-interacting protein 2 617919 REc
7.625 7 15 14 7q32.1 TNPO3, TRNSR, LGMD1F C Transportin 3 610032 R, REc, Fd Muscular dystrophy, limb-girdle, type 1F, 608423 (3)
7.626 3 20 14 7q32.1 TSPAN33, PEN P Tetraspanin 33 610120 REc, A
7.627 4 8 13 7q32.2 KLHDC10, SLIM C KELCH domain-containing protein 10 615152 R, REc
7.628 6 26 11 7q32.2 LKF14, BTEB5 P Kruppel-like factor 14 609393 REc 6(Klf14)
7.629 10 12 09 7q32.2 MIR96, MIRN96, DFNA50 P Micro RNA 96 611606 REc Deafness, autosomal dominant 50, 613074 (3) 6(Mirn96)
7.630 3 23 09 7q32.2 MIR182, MIRN182 P Micro RNA 182 611607 REc, H 6(Mirn182)
7.631 3 23 09 7q32.2 MIR183, MIRN183 P Micro RNA 183 611608 R, REc
7.632 9 12 11 7q32.2-q36.1 HYSP3 P Hypospadias 3, autosomal 146450 Fd between D7S2519 and D7S2442. Hypospadias 3, autosomal (2)
7.633 7 1 05 7q32.1 KCP P Kielin/chordin-like protein 609344 REc 6(Kcp)
7.634 3 23 09 7q32.3 MIR29A, MIRN29A C Micro RNA 29A 610782 REc
7.635 10 08 08 7q32.3 BMIQ1 P Body mass index quantitative trait locus 1 606641 Fd max lod at D7S1804 [Body mass index QTL1] (2)
7.636 3 23 09 7q32.3 MIR29B1, MIRN29B1 C Micro RNA 29B1 610783 REc
7.637 9 30 09 7q32.3 PLXNA4 P Plexin A4 604280 TM, REc
7.638 2 2 01 7q33 DGKI P Diacylglycerol kinase, iota, 130-kD 604072 A
7.639 2 21 11 7q32-q33 CHCHD3 P Coiled-coil-helix-coiled-coil-helix domain-containing protein 3 613748 REc
7.640 2 9 17 7q33 AGBL3, CCP3 P ATP/GTP-binding protein-like 3 617346 REc
7.641 5 29 12 7q33 AKR1B10, ARL1 P Aldo-keto reductase family 1, member B10 604707 REc
7.642 4 30 15 7q33 AKR1B15, AKR1B10L, AKR1R1B7 P Aldo-keto reductase family 1, member B15 616336 REc
7.643 1 5 93 7q33 CALD1, CDM P Caldesmon-1 114213 A
7.644 6 17 16 7q33 C7orf49, MRI P Chromosome 7 open reading frame 49 616980 REc
7.645 3 24 06 7q34 CLEC5A, CLECSF5, MDL1 P C-type lectin domain family 5, member A 604987 A
7.646 9 16 12 7q33 CREB3L2, BBF2H7 P cAMP response element-binding protein 3-like 2 608834 REc
7.647 9 11 12 7q34 KEL C Kell blood group 613883 Fd, REa, A [Blood group, Kell], 110900 (3)
7.648 8 26 15 7q33 LRGUK P Leucine-rich repeats- and guanylate kinase domain-containing protein 616478 REc
7.649 4 23 09 7q33 LUZP6, MPD6 P Leucine zipper protein 6 611050 REc
7.650 6 2 16 7q33 MIR490 P Micro RNA 490 616972 REc
7.651 4 7 16 7q33 NUP205, C7orf14, KIAA0225, NPHS13 P Nucleoporin, 205kD 614352 R, REc mutation identified in 1 NPHS13 family ?Nephrotic syndrome, type 13, 616893 (3)
7.652 9 27 94 7q33 PTN, NEGF1 C Pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1) 162095 REa, A 6(Ptn)
7.653 12 14 99 7q33 SLC13A4, SUT1 P Solute carrier family 13 (sodium/sulfate symporters), member 4 (sulfate transporter 1) 604309 REc
7.654 4 18 07 7q33 SLC35B4 P Solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 610923 REc
7.655 5 23 16 7q33 WDR91, SORF1 P WD repeat-containing protein 91 616303 REc
7.656 7 16 02 7q34 ATP6V0A4, ATP6N1B, VPP2, RTA1C, RTADR C ATPase, H+ transporting, lysosomal V0 subunit a isoform 4 605239 Fd Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
7.657 4 23 02 7q34 HIPK2 C Homeodomain-interacting protein kinase 2 606868 A
7.658 5 7 03 7q34 TRPV6, ECAC2, CAT1, CATL P Transient receptor potential cation channel, subfamily V, member 6 606680 A
7.659 1 23 01 7q35 ARHGEF5, TIM P Rho guanine nucleotide exchange factor-5 (oncogene TIM) 600888 REa, A
7.660 7 10 98 7q34 EPHB6, HEP P Ephrin receptor EPHB6 602757 A
7.661 1 10 02 7q33 MTPN P Myotrophin 606484 A
7.662 7 23 13 7q34 AGK, MULK, MTDPS10, CATC5, CTRCT38 P Acylglycerol kinase 610345 REc Sengers syndrome, 212350 (3); Cataract 38, autosomal recessive, 614691 (3)
7.663 2 8 11 7q34 BRAF, NS7 C Murine sarcoma viral (v-raf) oncogene homolog B1 164757 A, REa pseudogene BRAF2 on Xq13 or 7q Melanoma, malignant, somatic (3); Colorectal cancer, somatic (3); Adenocarcinoma of lung, somatic, 211980 (3); Nonsmall cell lung cancer, somatic (3); Cardiofaciocutaneous syndrome, 115150 (3); Noonan syndrome 7, 613706 (3); LEOPARD syndrome 3, 613707 (3) 10(Braf)
7.664 10 2 12 7q34 GSTK1 P Glutathione S-transferase, kappa-1 602321 REc
7.665 4 26 10 7q34 KIAA1549 C KIAA1549 gene 613344 Psh, REc
7.666 9 30 09 7q34 LUC7L2 P Luc7, S. cerevisiae, homolog of, 2 613056 REc, H 6(Luc7l2)
7.667 4 1 03 7q34 MGAM, MGA P Maltase-glucoamylase 154360 REc similar to EST GS1365
7.668 12 17 08 7q34 PARP12, ZC3HDC1, FLJ22693 P Poly(ADP-ribose) polymerase family, member 12 612481 REc
7.669 1 18 96 7q34 SSBP1, SSBP P Single-stranded DNA-binding protein 1 600439 Psh, A
7.670 1 2 08 7q34 SVOPL P SV2-related protein-like 611700 REc 6(Svopl)
7.671 9 21 11 7q34 TBXAS1, GHOSAL, CYP5, BDPLT14 C Thromboxane A synthase 1, platelet 274180 A, Fd Ghosal hematodiaphyseal syndrome, 231095 (3); ?Thromboxane synthase deficiency, 614158 (1) 6(Tbxas1)
7.672 6 26 11 7q34 TAS2R38, T2R61, PTC C Taste receptor, type 2, member 38 607751 Fd, REc [Phenylthiocarbamide tasting], 171200 (3)
7.673 6 27 11 7q34 TAS2R40, T2R40 P Taste receptor, type 2, member 40 613964 REc
7.674 8 26 15 7q34 TMEM139 P Transmembrane protein 139 616524 REc
7.675 2 13 12 7q35 TPK1, THMD5 P Thiamine pyrophosphokinase 606370 A Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)
7.676 10 15 13 7q34 TRBC1 C T-cell receptor beta chain constant region 1 186930 REa, A 6(Tcrb)
7.677 10 15 13 7q34 TRBC2 P T-cell receptor beta chain constant region 2 615445 REc
7.678 10 15 13 7q34 TRBV@ P T-cell receptor beta chain variable gene cluster 615446 REc
7.679 10 15 13 7q34 TRBJ@ P T-cell receptor beta chain joining gene cluster 615449 REc
7.680 10 15 13 7q34 TRBD1 P T-cell receptor beta chain diversity gene 1 615447 REn
7.681 10 15 13 7q34 TRBD2 P T-cell receptor beta chain diversity gene 2 615448 REc
7.682 4 27 17 7q34 TTC26, IFT56 P Tetratricopeptide repeat domain-containing protein 26 617453 REc
7.683 3 31 11 7q34 UBN2 P Ubinuclein 2 613841 REc
7.684 7 22 11 7q34 WEE2, WEE1B P Wee1, S. pombe, homolog of, 2 614084 REc
7.685 11 30 06 7q34 ZC3HAV1, ZAP, FLJ13288, FLB6421 P Zinc finger CCCH domain-containing antiviral protein 1 607312 REc 6(Zap)
7.686 9 30 98 7q34 ZYX C Zyxin 602002 Psh, A
7.687 10 16 12 7q34-q36 DHMN1 P Neuronopathy, distal hereditary motor, type I 182960 Fd between D7S2513 and D7S637 Neuronopathy, distal hereditary motor, type I (2)
7.688 10 15 98 7q34-q36 DFNB13 P Deafness, autosomal recessive 13 603098 Fd Deafness, autosomal recessive 13 (2)
7.689 3 12 01 7q34-q36 OTSC2 P Otosclerosis 2 605727 Fd Otosclerosis 2 (2)
7.690 1 22 08 7q36.1 ACCN3, ASIC3, TNAC1, DRASIC P Cation channel, amiloride-sensitive, neuronal 3 611741 R
7.691 12 2 99 7q33 AKR1B1, ALDR1 P Aldo-keto reductase family 1, member B1 103880 REa, A
7.692 8 30 95 7q34 CLCN1 P Chloride channel-1, skeletal muscle 118425 H, REa, Fd Myotonia congenita, recessive, 255700 (3); Myotonia congenita, dominant, 160800 (3); Myotonia levior, recessive (3) 6(adr, Clc1)
7.693 8 19 98 7q34 CASP2, NEDD2, ICH1 C Caspase 2, apoptosis-related cysteine protease (neural precursor cell expressed, developmentally down-regulated 2) 600639 R
7.694 5 20 13 7q36.1 EZH2, EZH1, WVS C Enhancer of zeste, Drosophila, homolog of, 2 601573 REc, Psh, A pseudogene on 21q22 Weaver syndrome, 277590 (3) 6(Ezh2)
7.695 10 6 08 7q36.1 FASTK, FAST C Fas-activated serine/threonine kinase 606965 R, REc
7.696 2 4 15 7q35 NOBOX, POF5 C Newborn ovary homeobox, mouse, homolog of 610934 REc Premature ovarian failure 5, 611548 (3) 6(Nobox)
7.697 8 8 13 7q35 OR2F1, OLF3 P Olfactory receptor, family 2, subfamily F, member 1 608497 REa, Psh
7.698 7 1 11 7q34 PRSS1, TRY1 C Protease, serine, 1 (trypsin 1) 276000 REa, Fd, REn, R 8 trypsinogen genes embedded in TCRB locus Pancreatitis, hereditary, 167800 (3); Trypsinogen deficiency, 614044 (1) 6(Try1)
7.699 5 31 06 7q34 PRSS2, TRY2 C Protease, serine, 2 (trypsin 2) 601564 REn, Fd {Pancreatitis, chronic, protection against}, 167800 (3)
7.700 6 26 11 7q35 TAS2R41, T2R59 C Taste receptor, type 2, member 41 613965 REa, REc
7.701 6 26 11 7q35 TAS2R60, T2R60 C Taste receptor, type 2, member 60 613968 REa, REc
7.702 1 4 16 7q35 TCAF1, FAM115A, KIAA0738 P TRPM8 channel-associated factor 1 616251 R, REc
7.703 1 4 16 7q35 TCAF2, FAM115C, FAM139A P TRPM8 channel-associated factor 2 616252 REc
7.704 5 7 03 7q34 TRPV5, ECAC1, CAT2 P Transient receptor potential cation channel, subfamily V, member 5 606679 R, A
7.705 1 29 01 7q36.1 ABCB8, MABC1 C ATP-binding cassette, subfamily B, member 8 605464 REc, REa
7.706 2 19 10 7q35-q36 CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1 C Contactin-associated protein-like 2 604569 REc Cortical dysplasia-focal epilepsy syndrome, 610042 (3); {Autism susceptibility 15}, 612100 (3); Pitt-Hopkins like syndrome 1, 610042 (3)
7.707 8 11 91 7q33 CHRM2 C Cholinergic receptor, muscarinic, 2 118493 A, REa, Fd
7.708 1 23 90 7q35-q36 D7S437, MS3315 P Minisatellite 33.15 157570 REa, A
7.709 11 3 98 7q35-q36 GPDS1, PDS1 P Glaucoma-related pigment dispersion syndrome-1 600510 Fd Pigment dispersion syndrome (2)
7.710 1 13 11 7q36.1 KCNH2, LQT2, HERG, SQT1 C Potassium voltage-gated channel, subfamily H, member 2 (human ether-a-go-go-related gene) 152427 Fd, REn, A Long QT syndrome 2, 613688 (3); {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3); Short QT syndrome 1, 609620 (3)
7.711 11 28 94 7q36.1 SLC4A2, AE2, EPB3L1 P Solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) 109280 REa, A 5(Ae2)
7.712 1 5 09 7q35-q36 SLI4 P Specific language impairment 4 612514 Fd associated with rs1723629 {Specific language impairment 4} (2)
7.713 6 16 99 7q36.1 SMARCD3, BAF60C P SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 3 601737 Psh, R
7.714 12 24 08 7q36.1 ABCF2, HUSSY18 C ATP-binding cassette, subfamily F, member 2 612510 Psh, R, REc
7.715 6 14 01 7q36 ACRPS P Acropectoral syndrome 605967 Fd Acropectoral syndrome (2)
7.716 10 7 05 7q36 AD10 P Alzheimer disease-10 609636 Fd max lod with D7S798 Alzheimer disease-10 (2)
7.717 6 12 12 7q36.1 ATP6V0E2 P ATPase, H+ transporting, lysosomal, 9kD, V- subunit E2 611019 REc
7.718 11 19 13 7q36 AUTS10 P Autism, susceptibility to, 10 611016 Fd max lod at D7S483 {Autism, susceptibility to, 10} (2)
7.719 2 16 04 7q36.3 BLACE P B-cell acute lymphoblastic leukemia-expressed gene 608450 R
7.720 5 24 13 7q36.3 C7orf13 P Chromosome 7 open reading frame 13 610242 REc overlaps RNF32 on the opposite strand
7.721 5 4 15 7q36.1 CDK5, LIS7 P Cyclin-dependent kinase 5 123831 A mutation identified in 1 LIS7 family ?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3) 5(cdk5)
7.722 11 19 13 7q36.3 EN2 P Engrailed-2 131310 REa, A 5(En2)
7.723 6 16 99 7q36.1 GBX1 P Gastrulation brain homeobox 1 603354 A 5(Gbx1)
7.724 11 5 97 7q36.3 INSIG1 P Insulin-induced gene 1 602055 A
7.725 11 14 17 7q36.1 KMT2C, MLL3, KIAA1506, KLEFS2 P Lysine (K)-specific methyltransferase 2C 606833 A Kleefstra syndrome 2, 617768 (3)
7.726 11 6 14 7q36.3 LMBR1, ACHP, C7orf2, PPD2, THYP, LSS C Limb region 1, mouse, homolog of 605522 Fd, HZ, Fd Acheiropody, 200500 (3); Polydactyly, preaxial type II, 174500 (3); Triphalangeal thumb, type I, 174500 (3); Triphalangeal thumb-polysyndactyly syndrome, 174500 (3); Syndactyly, type IV, 186200 (3); Hypoplastic or aplastic tibia with polydactyly, 188740 (3); Laurin-Sandrow syndrome, 135750 (3) 5(Lmbr1)
7.727 2 21 10 7q36.3 MNX1, HLXB9, HOXHB9, SCRA1 C Motor neuron and pancreas homeobox 1 142994 Fd, REc Currarino syndrome, 176450 (3)
7.728 5 26 13 7q36.3 NOM1, C7orf3 P Nucleolar protein with MIF4G domain 1 611269 REc 5(Nom1)
7.729 7 8 10 7q36.1 NOS3 C Nitric oxide synthase 3, endothelial cell 163729 REa, A, Psh {Coronary artery spasm 1, susceptibility to} (3); {Alzheimer disease, late-onset, susceptibility to}, 104300 (3); {Hypertension, susceptibility to}, 145500 (3); {Hypertension, pregnancy-induced}, 189800 (3); {Placental abruption} (3); {Ischemic stroke, susceptibility to}, 601367 (3) 5(Nos3)
7.730 10 11 05 7q36.2 PAXIP1, PAXIP1L, PTIP P PAX transcription activation domain-interacting protein 1 608254 R, A
7.731 1 22 09 7q36.1 PRKAG2, WPWS, CMH6 C Protein kinase, AMP-activated, noncatalytic, gamma-2 602743 REc, R, Fd Wolff-Parkinson-White syndrome, 194200 (3); Cardiomyopathy, hypertrophic 6, 600858 (3); Glycogen storage disease of heart, lethal congenital, 261740 (3)
7.732 3 23 06 7q36.3 PTPRN2, IAR, ICAAR P Protein-tyrosine phosphatase, receptor-type, N, polypeptide 2 601698 A, R
7.733 9 10 09 7q36.1 RHEB, RHEB2 P Ras homolog enriched in brain 601293 A
7.734 5 24 13 7q36.3 RNF32 P RING finger protein 32 610241 REc
7.735 7 12 02 7q36.1 RNY1, Y1 P RNA, Y1 small cytoplasmic 601821 REa, REc
7.736 7 12 02 7q36.1 RNY3, Y3 P RNA, Y3 small cytoplasmic 601822 REa, REc
7.737 7 12 02 7q36.1 RNY4, Y4 P RNA, Y4 small cytoplasmic 601823 REa, REc
7.738 7 12 02 7q36.1 RNY5, Y5 P RNA, Y5 small cytoplasmic 601824 REa, REc
7.739 2 7 12 7q36.3 SHH, HPE3, HLP3, SMMCI, MCOPCB5 C Sonic hedgehog 600725 Fd, Psh, Ch separate from TPT1 Holoprosencephaly 3, 142945 (3); Single median maxillary central incisor, 147250 (3); Microphthalmia with coloboma 5, 611638 (3); Schizencephaly, 269160 (3)
7.740 2 12 16 7q36.1 AGAP3, CENTG3, CRAG P ARF GTPase-activating protein with GTPase domain, ankyrin repeat, and pleckstrin homology domain 3 616813 REc
7.741 8 6 13 7q36.1 ASB10, GLC1F P Ankyrin repeat- and SOCS box-containing protein 10 615054 REc, Fd Glaucoma 1, open angle, F, 603383 (3)
7.742 10 2 13 7q36.1 ATG9B, NOS3AS, APG9L2, SONE P Autophagy 9, S. cerevisiae, homolog of, B 612205 REc
7.743 2 1 11 7q36.1 CHPF2, KIAA1402, CSGlcAT P Chondroitin polymerizing factor 2 608037 REc
7.744 6 13 12 7q36.1 CUL1 P Cullin 1 603134 REc
7.745 4 6 13 7q36.1 GALNT11, GALNACT11 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 615130 REc, H 5(Galnt11)
7.746 4 6 13 7q36.1 GALNTL5, GALNACT19 C UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 615133 REc
7.747 7 23 96 7q36.2 HTR5A P 5-hydroxytryptamine (serotonin) receptor-5A 601305 Psh, REc 5(Htr5a)
7.748 1 27 11 7q36.1 GIMAP1, IMAP1 P GTPase, IMAP family, member 1 608084 REc
7.749 1 27 11 7q36.1 GIMAP2, IMAP2 P GTPase, IMAP family, member 2 608085 REc
7.750 1 27 11 7q36.1 GIMAP4, IMAP4, IAN1 P GTPase, IMAP family, member 4 608087 REc
7.751 1 27 11 7q36.1 GIMAP5, IAN4L1, IMAP3 P GTPase, IMAP family, member 5 608086 REc 6
7.752 6 2 16 7q36.1 GIMAP6 P GTPase, IMAP family, member 6 616960 REc
7.753 6 2 16 7q36.1 GIMAP7 P GTPase IMAP family, member 7 616961 REc
7.754 6 2 16 7q36.1 GIMAP8 P GTPase, IMAP family, member 8 616962 REc
7.755 4 17 13 7q36.1 LOC100134040 P LOC100134040 gene 615171 REc
7.756 8 19 13 7q36.1 LR8 P LR8 protein 610385 REc
7.757 5 23 13 7q36.1 MIR671 P Micro RNA 671 615245 REc
7.758 6 24 13 7q36.1 NUB1 P Negative regulator of ubiquitin-like proteins 1 607981 R, REc
7.759 5 11 09 7q36.1 RARRES2, TIG2 P Retinoic acid receptor responder 2 601973 REc
7.760 2 24 17 7q36.1 SSPO P Subcommissural organ spondin 617356 REc, H 6(Sspo)
7.761 8 19 13 7q36.1 TEM176A, HCA112, GS188 P Transmembrane protein 176A 610334 R, REc 6(Gs188)
7.762 9 2 12 7q36.1 TMUB1, DULP, SB144, C7orf21 P Transmembrane and ubiquitin-like domain-containing protein 1 614792 REc
7.763 12 15 16 7q36.1 XRCC2, FANCU C X-ray repair, complementing defective, repair in Chinese hamster cells-2 600375 REa, R, C mutation identified in 1 FANCU patient ?Fanconi anemia, complementation group U, 617247 (3)
7.764 5 31 13 7q36.1 ZBED6CL, C7orf29 P ZBED6 C terminus-like protein 615252 REc
7.765 3 17 06 7q36.1 ZNF212, ZNFC150, ZNF182 P Zinc finger protein 212 602386 Psh
7.766 7 20 12 7q36.1 ZNF282, HUB1 P Zinc finger protein 282 603397 REc
7.767 9 8 11 7q36.1 ZNF467, EZI, ZFP467 P Zinc finger protein 467 614040 REc
7.768 4 19 11 7q36.1 ZNF746, PARIS P Zinc finger protein 746 613914 REc
7.769 4 14 15 7q36.2 DPP6, VF2, MRD33 P Dipeptidylpeptidase VI 126141 Psh, REc {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3); Mental retardation, autosomal dominant 33, 616311 (3) 5(Dppx, Dpp6)
7.770 5 24 13 7q36.3 NCAPG2, CAPG2, MTB P Non-SMC condensin II complex subunit G2 608532 REc
7.771 12 22 08 7q36.3 CNPY1 P Canopy 1, zebrafish, homolog of 612493 REc
7.772 4 25 12 7q36.3 DNAJB6, MRJ, DJ4, LGMD1E P DNAJ/HSP40 homolog, subfamily B, member 6 611332 REc, Fd previously assigned to 11q25 Muscular dystrophy, limb-girdle, type 1E, 603511 (3)
7.773 12 11 15 7q36.3 ESYT2, FAM62B P Extended synaptotagmin-like protein 2 616691 REc
7.774 11 22 11 7q36.3 SCZD16, C16DUPq36.3, DUP7q36.3 P Chromosome 7q36.3 duplication syndrome, 362kb 613959 Ch 362kb duplication that includes VIPR2 Schizophrenia 16 (4)
7.775 1 30 12 7q36.3 UBE3C, HECTH2, KIAA0010, KIAA10 C Ubiquitin protein ligase E3C 614454 Psh, REc
7.776 11 22 11 7q36.3 VIPR2 P Vasoactive intestinal peptide receptor 2 601970 A 12(Vipr2)
7.777 2 11 14 7q36.3 WDR60, SRTD8, SRPS6 P WD repeat containing protein 60 615462 REc Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
7.778 11 19 11 Chr.7 AIS2, VAMAS3 P Autoimmune disease, susceptibility to, 2 608391 Fd {Autoimmune disease, susceptibility to, 2} (2)
7.779 10 23 87 Chr.7 NHCP2 P Nonhistone chromosomal protein-2 118880 S
8.1 9 9 08 8p23.3 FBXO25, FBX25 P F-box only protein 25 609098 REc 8(Fbxo25)
8.2 6 16 99 8p23.3 MYOM2 P Myomesin 2 603509 Psh, A
8.3 7 20 01 8p23.3-p22 DBA2 P Diamond-Blackfan anemia 2 606129 Fd Diamond-Blackfan anemia 2 (2)
8.4 9 2 12 8p23.1 AGPAT5 P 1-acylglycerol-3-phosphate O-acyltransferase 5 614796 REc
8.5 5 26 13 8p23.1 CLDN23 P Claudin 23 609203 REc, REn
8.6 9 9 08 8p23.1 DEFA1, DEF1, MRS C Defensin, alpha-1, myeloid-related sequence 125220 REa, A 8(Defcr)
8.7 9 9 08 8p23.1 DEFA5, DEF5 P Defensin, alpha-5, Paneth cell-specific 600472 REa
8.8 2 11 96 8p23.1 DEFA6, DEF6 P Defensin, alpha-6, Paneth cell-specific 600471 REa
8.9 9 9 08 8p23.1 DEFB1 P Defensin, beta-1 602056 A 8(Defb1)
8.10 3 9 12 8p23.1 DEFB4A, DEFB4, DEFB2 C Defensin, beta-4a (formerly defensin, beta-2) 602215 A, REc, Ch
8.11 4 18 07 8p23.1 DEFB103A, DEFB3, HBD3, HBP3 C Defensin, beta 103A 606611 REc, Ch
8.12 12 29 05 8p23.1 DIH2 P Hernia, congenital diaphragmatic 2 222400 Ch Hernia, congenital diaphragmatic 2 (2)
8.13 12 18 14 8p23.1 FAM86B1 P Family with sequence similarity 86, member B1 616122 REc
8.14 12 18 14 8p23.1 FAM86B2 P Family with sequence similarity 86, member B2 616123 REc
8.15 9 30 09 8p23.1 FAM90A3 P Family with sequence similarity 90, member A3 613042 REc copy 2
8.16 9 30 09 8p23.1 FAM90A5 P Family with sequence similarity 90, member A5 613043 REc copy 5
8.17 9 30 09 8p23.1 FAM90A7 P Family with sequence similarity 90, member A7 613044 REc copy 8
8.18 9 30 09 8p23.1 FAM90A8 P Family with sequence similarity 90, member A8 613045 REc copy 15
8.19 9 30 09 8p23.1 FAM90A9 P Family with sequence similarity 90, member A9 613046 REc copy 18
8.20 9 30 09 8p23.1 FAM90A10 P Family with sequence similarity 90, member A10 613047 REc copy 19
8.21 9 30 09 8p23.1 FAM90A12 P Family with sequence similarity 90, member A12 613048 REc copy 22
8.22 9 30 09 8p23.1 FAM90A13 P Family with sequence similarity 90, member A13 613049 REc copy 4
8.23 9 30 09 8p23.1 FAM90A14 P Family with sequence similarity 90, member A14 613050 REc copy 12
8.24 9 30 09 8p23.1 FAM90A15 P Family with sequence similarity 90, member A15 613051 REc copy 1
8.25 9 30 09 8p23.1 FAM90A18 P Family with sequence similarity 90, member A18 613052 REc copy 13
8.26 9 30 09 8p23.1 FAM90A19 P Family with sequence similarity 90, member A19 613053 REc copy 17
8.27 9 30 09 8p23.1 FAM90A20 P Family with sequence similarity 90, member A20 613054 REc copy 6
8.28 11 26 01 8p23.1 MFHAS1, MASL1 P Malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats-1 605352 REc Malignant fibrous histiocytoma (2)
8.29 3 23 09 8p23.1 MIR124-1, MIR124A P Micro RNA 124-1 609327 REc
8.30 9 26 17 8p23.1 MSRA C Peptide methionine sulfoxide reductase 601250 REc, H 14(Msra)
8.31 6 6 17 8p23.1 NEIL2, NEI2 P Endonuclease VIII-like 2 608933 REc
8.32 2 9 17 8p23.1 PRAG1, PRAGMIN, NACK P PEAK1-related kinase-activating pseudokinase 1 617344 REc
8.33 4 8 13 8p23.1 PRSS55, TSP1 P Protease, serine, 55 615144 REc
8.34 9 24 08 8p23.1 SLEB12 P Systemic lupus erythematosus, susceptibility to, 12 612254 Fd associated with rs13277113 {Systemic lupus erythematosus, susceptibility to, 12} (2)
8.35 3 20 14 8p23.1 USP17L2, DUB3 P Ubiquitin specific peptidase 17-like family member 2 610186 REc
8.36 11 20 95 8p22 NAT1, AAC1 P Arylamine N-acetyltransferase-1 108345 REa, A 8(Nat1)
8.37 8 29 08 8p22 NAT2, AAC2 C Arylamine N-acetyltransferase-2 612182 REa, A, H acetylation polymorphism [Acetylation, slow], 243400 (3) 8(Nat2)
8.38 8 19 98 8p23.1 FDFT1, DGPT P Farnesyl-diphosphate farnesyltransferase 1 (squalene synthase) 184420 Psh, A
8.39 9 11 14 8p23.1 GATA4, ASD2, VSD1, TACHD, TOF C GATA-binding protein-4 600576 REa, H, A mutations identified in 1 TACHD family Atrial septal defect 2, 607941 (3); Ventricular septal defect 1, 614429 (3); Atrioventricular septal defect 4, 614430 (3); ?Testicular anomalies with or without congenital heart disease, 615542 (3); Tetralogy of Fallot, 187500 (3) 14(Gata4)
8.40 8 20 02 8p23.1 ANGPT2, ANG2 C Angiopoietin 2 601922 R, A close to MCPH1 8(Angpt2)
8.41 9 17 14 8p23.3 ARHGEF10, KIAA0294, SNCV C Rho guanine nucleotide exchange factor 10 608136 REc mutation identified in 1 SNCV family ?Slowed nerve conduction velocity, AD, 608236 (3)
8.42 9 9 08 8p23.3 CLN8, EPMR P CLN8 gene 607837 Fd, H Ceroid lipofuscinosis, neuronal, 8, 600143 (3); Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3) 8(mnd)
8.43 1 27 04 8p23.2 CSMD1, KIAA1890 P Cub and Sushi multiple domains 1 608397 REc
8.44 10 6 09 8p23.1 DEFA4, DEF4, HP4 P Defensin, alpha-4, corticostatin 601157 REa, REc
8.45 5 13 11 8p23.1 MCPH1 C Microcephalin 607117 Fd, REc genetic heterogeneity Microcephaly 1, primary, autosomal recessive, 251200 (3) 8(Mcph1)
8.46 4 13 05 8p23 MYP10 P Myopia 10 609259 Fd Myopia 10 (2)
8.47 12 27 01 8p23.1 PINX1 P PIN2-interacting protein 1 606505 REc
8.48 5 26 13 8p23.1 PPP1R3B, GL P Protein phosphatase 1, regulatory subunit 3B 610541 A
8.49 1 27 11 8p23.1 RP1L1 C RP1-like protein 1 608581 REc Occult macular dystrophy, 613587 (3) 14(Rp1l1)
8.50 3 16 10 8p23 WS2C P Waardenburg syndrome, type 2C 606662 Ch Waardenburg syndrome, type 2C (2)
8.51 4 22 10 8p23.1 BLK, MODY11 P BLK nonreceptor tyrosine kinase 191305 REa, A Maturity-onset diabetes of the young, type 11, 613375 (3) 14(Blk)
8.52 8 29 08 8p23.1 FAM167A, C8orf13 P Family with sequence similarity 167, member A 610085 REc
8.53 10 15 97 8p23-p22 KWE P Keratolytic winter erythema 148370 Fd Keratolytic winter erythema (2)
8.54 9 5 02 8p23.1 MTMR9, MTMR8 P Myotubularin-related protein 9 606260 REc
8.55 12 27 01 8p23.1 SPAG11, HE2, EP2 P Sperm-associated antigen 11 606560 REc
8.56 4 17 13 8p23-p22 TDH P L-threonine dehydrogenase, pseudogene 615174 REc
8.57 1 13 99 8p21.3 EGR3 P Early growth response 3 602419 A
8.58 9 11 12 8p23-p21 GEFSP6 P Generalized epilepsy with febrile seizures plus, type 6 612279 Fd between D8S1706 and D8S549 Epilepsy, generalized, with febrile seizures plus, type 6 (2)
8.59 11 1 12 8p22 VPS37A, HCRP1, SPG53 P Vacuolar protein sorting 37A 609927 REc Spastic paraplegia 53, autosomal recessive, 614898 (3)
8.60 10 18 11 8p22 ANIB11 P Aneurysm, intracranial berry, 11 614252 Fd max lod at D8S552 Aneurysm, intracranial berry, 11 (2)
8.61 6 9 08 8p22 CHDS9 P Coronary heart disease, susceptibility to, 9 612030 Fd max lod at D8S1106 {Coronary heart disease, susceptibility to, 9} (2)
8.62 7 12 92 8p23.1 CTSB, CPSB C Cathepsin B 116810 REa, A, Psh, D 13q14 by rat probe 8(Ctsb)
8.63 10 7 09 8p22 FGL1, HFREP1 P Fibrinogen-like 1 605776 R, REc
8.64 2 25 14 8p22 KIAA1456, TRM9L P KIAA1456 gene 615666 REc
8.65 12 17 07 8p21.3 LPL, LIPD, HDLCQ11 C Lipoprotein lipase 609708 REa, A, Fd Lipoprotein lipase deficiency, 238600 (3); Combined hyperlipidemia, familial, 144250 (3); [High density lipoprotein cholesterol level QTL 11] (3) 8(Lpl)
8.66 12 11 01 8p21.3 LZTS1, F37, FEZ1 P Leucine zipper, putative tumor suppressor 1 606551 Ch, LOH Esophageal squamous cell carcinoma, 133239 (3)
8.67 1 14 14 8p22 MICU3, EFHA2 P Mitochondrial calcium uptake protein 3 610633 REc
8.68 3 27 18 8p22 MSR1, SCARA1, SRA C Macrophage scavenger receptor 153622 REa, Fd, A ~11cM distal to LPL Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
8.69 6 16 99 8p22 MTMR7 P Myotubularin-related protein 7 603562 R, Psh
8.70 6 19 01 8q22.2 POLR2K, RPB12 P Polymerase II, RNA, subunit K 606033 R
8.71 1 30 12 8p22 PSD3, HCA67, EFA6R P Pleckstrin and Sec7 domains-containing protein 3 614440 REc
8.72 11 11 14 8p22 SGCZ, ZSG1 P Sarcoglycan, zeta 608113 R, H
8.73 12 17 12 8p21.3 SH2D4A, SH2A, PPP1R38 P SH2 domain-containing protein 4A 614968 REc
8.74 3 2 98 8p22 SLC7A2, ATRC2, HCAT2 P Solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 601872 A
8.75 8 29 08 8p23.1 SOX7 P SRY-box 7 612202 A, H 14(Sox7)
8.76 11 18 11 8p22 TUSC3, M33, D8S1992, MRT7, MRT22 C Tumor suppressor candidate 3 601385 REn, Fd Mental retardation, autosomal recessive 7, 611093 (3)
8.77 7 20 12 8p22 ASAH1, AC, SMAPME P N-acylsphingosine amidohydrolase (acid ceramidase) 1 613468 REc Farber lipogranulomatosis, 228000 (3); Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
8.78 9 9 08 8p22 CNOT7, CAF1 P CCR4-NOT transcription complex, subunit 7 604913 REc
8.79 6 11 09 8p22-p21.3 DFNB71 P Deafness, autosomal recessive 71 612789 Fd max lod at D8S261 Deafness, autosomal recessive 71 (2)
8.80 8 6 15 8p22 DLC1 P Deleted in liver cancer 1 604258 A Colorectal cancer, somatic, 114500 (3)
8.81 4 10 14 8p22 FGF20, RHDA2 C Fibroblast growth factor-20 605558 REc mutation identified in 1 RHDA2 family ?Renal hypodysplasia/aplasia 2, 615721 (3)
8.82 8 14 15 8p22 PCM1, PTC4 P Pericentriolar material 1 600299 A, REn, Ch fused with RET to form PTC4
8.83 2 19 13 8p22 PDGFRL, PDGRL, PRLTS P Platelet-derived growth factor receptor-like 604584 REc Hepatocellular cancer, somatic, 114550 (3); Colorectal cancer, somatic, 114500 (3)
8.84 11 16 05 8p21.3 TNFRSF10B, DR5, TRAILR2 C Tumor necrosis factor receptor superfamily, member 10B 603612 R, A Squamous cell carcinoma, head and neck, 275355 (3)
8.85 8 17 99 8p21.3 TNFRSF10C, DCR1, TRAILR3, TRID P Tumor necrosis factor receptor superfamily, member 10C 603613 R
8.86 1 12 99 8p21.2 PTK2B, FAK2, PYK2 P Protein tyrosine kinase-2, beta (focal adhesion kinase 2) 601212 Psh, A
8.87 5 23 13 3p25.1 TPRXL P Tetrapeptide repeat homeobox-like 611167 REc
8.88 11 4 93 8p11.21 FNTA P Farnesyltransferase, CAAX box, alpha 134635 REa, Psh, A related FNTAL1 on 11, FNTAL2 on 13 8(Fnta)
8.89 7 3 06 8p22-q11 MPD3 P Myopathy, distal 3 610099 Fd possible locus on 12q13-q22 Myopathy, distal 3 (2)
8.90 7 13 93 8p12 NRG1, HGL, HRGA, ARIA C Neuregulin 1 (heregulin, alpha, 45kD; ERBB2 p185-activator) 142445 Psh, A {?Schizophrenia, susceptibility to}, 603013 (1) 7(Nrg1)
8.91 5 23 16 8p21.3 ATP6V1B2, ATP6B2, VPP3, DOOD, ZLS2 P ATPase, H+ transporting, lysosomal, V1 subunit B, isoform 2 606939 R, REc Zimmermann-Laband syndrome 2, 616455 (3); Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 (3)
8.92 10 6 09 8p21.3 BIN3 P Bridging integrator 3 606396 R, REc
8.93 8 11 17 8p21.3 CCAR2, DBC1, KIAA1967 P Cell division cycle and apoptosis regulator 2 607359 REc
8.94 9 10 07 8p21.3 CHMP7 P CHMP family, member 7 611130 REc
8.95 10 28 15 8p21.3 CSGALNACT1 P Chondroitin sulfate N-acetylgalactosaminyltransferase 1 616615 REc
8.96 7 26 10 8p21.3 DOK2, P56DOK P Docking protein 2 604997 REc
8.97 1 13 16 8p21.3 ENTPD4, LYSAL1, LAP70, KIAA0392 P Ectonucleoside triphosphate diphosphohydrolase 4 607577 R, REc
8.98 6 11 13 8p21.3 FGF17, HH20 P Fibroblast growth factor 17 603725 REc Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3)
8.99 3 24 14 8p21.3 INTS10, INT10 P Integrator complex subunit 10 611353 R, REc
8.100 12 4 03 8p21.3 LGI3 P Leucine-rich gene, glioma-inactivated, 3 608302 R 14(Lgi3)
8.101 7 22 11 8p21.3 MIR320A, MIRN320A P Micro RNA 320A 614112 REc
8.102 9 16 03 8p21.3 NPM2 P Nucleophosmin/nucleoplasmin family, member 2 608073 REc 14(Npm2)
8.103 6 22 14 8p21.3 NUDT18, MTH3 P Nucleoside diphosphate-linked moiety X motif 18 615791 REc
8.104 12 19 08 8p21.3 PIWIL2, MILI P PIWI-like 2 610312 REc 14(Piwil2)
8.105 7 1 05 8p21.3 REEP4, C8orf20 P Receptor expression-enhancing protein 4 609349 R, REc
8.106 9 29 96 8p21.3 SLC18A1, VMAT1, VAT1, CGAT P Solute carrier family 18 (vesicular monoamine), member 1 193002 REa, A 19(Slc18a1)
8.107 5 6 13 8p23.1 SLC35G5, AMAC, AMAC1L2 P Solute carrier family 35, member G5 615199 REc
8.108 7 11 16 8p21.3 SLC39A14, ZIP14, KIAA0062, HMNDYT2 P Solute carrier family 39 (zinc transporter), member 14 608736 REc Hypermanganesemia with dystonia 2, 617013 (3)
8.109 3 8 07 8p21.3 SORBS3, SCAM1, SH3D4 P Sorbin and SH3 domains-containing 3 610795 REc
8.110 8 3 12 8p21.3 XPO7, RANBP16, KIAA0745 P Exportin 7 606140 R, REc
8.111 2 4 02 8p21.3 LOXL2 P Lysyl oxidase-like 2 606663 R, A
8.112 4 21 16 8p21.2 DOCK5 P Dedicator of cytokinesis 5 616904 REc
8.113 3 22 06 8p21.2 EBF2 P Early B-cell factor 2 609934 R, REc
8.114 7 16 14 8p21.3 HR, AU, MUHH1, HYPT4 C Hairless, mouse, homolog of 602302 H, R, Fd, LD Alopecia universalis, 203655 (3); Atrichia with papular lesions, 209500 (3); Hypotrichosis 4, 146550 (3) 14(hr)
8.115 12 22 16 8p21.2 KCTD9, BTBD27 P Potassium channel tetramerization domain-containing protein 9 617265 REc
8.116 12 28 08 8p21.3 PDLIM2, MYSTIQUE P PDZ and LIM domain protein 2 609722 REc
8.117 12 17 08 8p21.3 PEPB4, CORK1 P Phosphatidylethanolamine-binding protein 4 612473 REc
8.118 3 4 17 8p21.2 PNMA2, MA2, MM2 P Paraneoplastic MA antigen 2 603970 REc
8.119 5 6 03 8p21.3 RHOBTB2, DBC2, KIAA0717 C Rho-related BTB domain-containing protein 2 607352 R, REc
8.120 11 21 02 8p12 LEPROTL1 P Leptin receptor overlapping transcript-like 1 607338 R
8.121 5 7 09 8p21.1 ELP3, KAT9 P Elongation protein 3, S. cerevisiae, homolog of 612722 REc
8.122 12 28 05 8p21.1 ESCO2 C Establishment of cohesion 1, S. cerevisiae, homolog of, 2 609353 REc, Fd Roberts syndrome, 268300 (3); SC phocomelia syndrome, 269000 (3)
8.123 11 20 95 8p21.3 EPB49, DMT P Erythrocyte membrane protein band 49 (dematin) 125305 REa, A 14(Epb4.9)
8.124 9 9 08 8p21.1 FBXO16, FBX16 P F-box only protein 16 608519 REc ?8p12 14(Fbxo16)
8.125 10 23 87 8p12 GSR C Glutathione reductase 138300 S, D Hemolytic anemia due to glutathione reductase deficiency (1) 8(Gr1)
8.126 8 4 97 8p21.1 GULOP, GULO P Gulonolactone (L-) oxidase pseudogene 240400 REb, A Scurvy (3)
8.127 3 23 14 8p21.1 INTS9, INT9, RC74 P Integrator complex subunit 9 611352 REc
8.128 8 19 13 8p21.1 PBK, TOPK P PDZ-binding kinase 611210 REc
8.129 12 10 13 8p21.1 SCARA5 P Scavenger receptor class A, member 5 611306 REc
8.130 6 27 16 8p21.2 TRIM35, MAIR, HLS5, KIAA1098 P Tripartite motif-containing protein 35 617007 REc
8.131 9 27 17 8p21.1 ZNF395, PBF, HDBP2 P Zinc finger protein 395 609494 REc
8.132 4 27 12 8p21.1-q13.3 SPG37 P Spastic paraplegia 37 611945 Fd max lod at D8S601 Spastic paraplegia 37, autosomal dominant (2)
8.133 9 14 92 8p21.2 ADRA1C P Adrenergic, alpha-1C-, receptor 104221 REc, Fd .03cM from NEFL
8.134 10 11 12 8p21.3 BMP1, OI13 C Bone morphogenetic protein-1 112264 H, REa, A 1kb 3' to SFTP2 Osteogenesis imperfecta, type XIII, 614856 (3) 14(Bmp1)
8.135 10 26 00 8p21.2 BNIP3L, NIX P BCL2/adenovirus E1B 19-kD protein-interacting protein 3-like 605368 A
8.136 8 28 06 8p21.2 CHRNA2 C Cholinergic receptor, nicotinic, alpha polypeptide-2 118502 REa Epilepsy, nocturnal frontal lobe, type 4, 610353 (3) 14(Acra2)
8.137 5 1 98 8p21.2 DPYSL2, DRP2, CRMP2 P Dihydropyrimidinase-like 2 602463 TM
8.138 4 17 17 8p21.1 EXTL3, EXTR1, ISDNA C Exostosin-like 3 605744 R, Psh, A, REc Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3)
8.139 8 28 01 8p21.1 FZD3 C Frizzled, Drosophila, homolog of, 3 606143 A 14(Fzd3)
8.140 7 15 99 8p21.3 GFRA2, GDNFRB P GDNF family receptor alpha-2 601956 A 14(Gdnfrb)
8.141 5 19 06 3p24-p21.2 TRICY1 P Trichilemmal cyst 1 609649 Fd max lod at D3S1277 Trichilemmal cyst 1 (2)
8.142 7 17 14 8p21.2 NEFM, NEF3, NFM P Neurofilament protein, medium polypeptide 162250 REn
8.143 3 6 18 8p21.2 NEFL, CMT2E, CMT1F, CMTDIG C Neurofilament, light polypeptide 162280 REa, A, Fd Charcot-Marie-Tooth disease, type 2E, 607684 (3); Charcot-Marie-Tooth disease, type 1F, 607734 (3); Charcot-Marie-Tooth disease, dominant intermediate G, 617882 (3) 14(Nfl)
8.144 7 18 14 8p21.2 NKX2-6, CSX2, CTHM P NK2, Drosophila, homolog of, 6 611770 R Persistent truncus arteriosus, 217095 (3); Conotruncal heart malformations, 217095 (3)
8.145 4 14 10 8p21.2 NKX3-1, NKX3A, BAPX2 P NK3 homeo box 1 602041 A
8.146 10 18 96 8p21.1 PNOC, PPNOC P Prepronociceptin 601459 REc
8.147 9 5 02 8p21.1 SCARA3, MSLR1, CSR P Scavenger receptor class A, member 3 602728 REc
8.148 12 15 98 8p21 SCZD6 C Schizophrenia susceptibility locus, chromosome 8p-related 603013 Fd ?neuregulin 1 {Schizophrenia}, 181500 (2)
8.149 5 21 07 8p21.3 SFTPC, SFTP2, SMDP2 C Surfactant, pulmonary-associated protein C (pulmonary surfactant apoprotein-2, SP-C) 178620 REa, A, Fd Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3) 14(Sftp2)
8.150 8 19 13 8p21.2 SLC25A37, MFRN, MFRN1 P Solute carrier family 25 (mitochondrial iron carrier), member 37 610387 REc 14(Slc25a37)
8.151 8 17 99 8p21.3 TNFRSF10A, DR4, TRAILR1, APO2 P Tumor necrosis factor receptor superfamily, member 10A 603611 R
8.152 8 17 99 8p21.3 TNFRSF10D, DCR2, TRAILR4 P Tumor necrosis factor receptor superfamily, member 10D 603614 R
8.153 3 30 00 8p21.1 CLU, CLI, SGP2, TRPM2 C Clusterin (complement lysis inhibitor, SP-40,40; sulfated glycoprotein 2; testosterone-repressed prostate message-2; apolipoprotein J) 185430 REa, REb, A, RE 14(Sgp2, Clu)
8.154 5 26 05 8p21.2-p21.1 EPHX2 P Epoxide hydrolase 2, cytoplasmic 132811 A {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3) 14(Ephx2)
8.155 5 11 16 8p12 GTF2E2, TTD6 P General transcription factor IIE, polypeptide 2, beta subunit, 34kD 189964 REc Trichothiodystrophy 6, nonphotosensitive, 616943 (3)
8.156 11 19 14 8p21.2 GNRH1, LNRH, HH12 P Gonadotropin-releasing hormone-1 (luteinizing-releasing hormone) 152760 REa, A mutation identified in 1 HH12 family ?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3) 14(Gnrh)
8.157 1 7 99 8p21.2 STC1, STC P Stanniocalcin 1 601185 A
8.158 10 29 02 8p21.2 ADAM7 P A disintegrin and metalloproteinase domain 7 607310 REc
8.159 10 29 02 8p21.2 ADAM28, MDCL C A disintegrin and metalloproteinase domain 28 606188 REc
8.160 2 28 03 8p21.2 ADAMDEC1, DECYSIN P A disintegrin and metalloproteinase domain-like protein decysin 1 606393 REn
8.161 9 1 16 8p11.23 ADGRA2, GPR124, TEM5, KIAA1531 P Adhesion G protein-coupled receptor A2 606823 R, REc
8.162 6 19 98 8p11.23 EIF4EBP1, 4EBP1 P Eukaryotic translation initiation factor-4E binding protein-1 602223 A 8(Eif4ebp1)
8.163 5 2 16 8p12 FUT10, FUCTX P Fucosyltransferase 10 616931 REc
8.164 8 18 08 8p11.21 IDO2, INDOL1 P Indoleamine 2,3-dioxygenase 2 612129 REc
8.165 7 20 12 8p12 KIF13B, GAKIN, KIAA0639 P Kinesin family member 13B 607350 R
8.166 4 15 08 8p12 MBOAT4, GOAT P Membrane-bound O-acetyltransferase domain-containing 4 611940 REc
8.167 4 20 17 8p11.23 NSD3, WHSC1L1 P Nuclear receptor-binding SET domain protein 3 607083 A, Ch pseudogene on 17q21; fusion partner with NUP98 in AML Leukemia, acute myeloid, 601626 (3)
8.168 10 28 08 8p11.21 PLAT, TPA C Plasminogen activator, tissue type 173370 REa, A, REb Thrombophilia, familial, due to decreased release of PLAT, 612348 (1); Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1) 8(Plat)
8.169 12 1 15 8p12 SNORD13 P Small nucleolar RNA, C/D box, 13 616664 REc
8.170 3 1 12 8p12 THPH9 L Thrombophilia due to decreased release of tissue plasminogen activator 612348 LD ?Thrombophilia due to decreased release of tissue plasminogen (1)
8.171 8 21 12 8p12 TMEM66, SARAF P Transmembrane protein 66 614768 REc
8.172 11 22 13 8p12 TTI2, C8orf41, MRT39 P TELO2-interacting protein 2 614426 REc Mental retardation, autosomal recessive 39, 615541 (3)
8.173 7 29 15 8p12 UNC5D, UNC5H4 P Unc5. C. elegans, homolog of, D 616466 REc
8.174 6 1 05 8p11.23 ADRB3 P Adrenergic, beta-3-, receptor 109691 A {Obesity, susceptibility to}, 601665 (3) 8(Adrb3)
8.175 7 13 93 8p12 PPP2CB C Protein phosphatase-2 (formerly 2A), catalytic subunit, beta isoform 176916 Psh, A, REc pseudogene on 16
8.176 8 12 03 8p12 RECQL2, RECQ3, WRN C DNA helicase, RecQ-like 2 604611 Fd, LD Werner syndrome, 277700 (3) 8(wrn)
8.177 3 29 10 8p12 UBXN8, D8S2298E, REP8 P UBX domain protein 8 602155 A
8.178 10 22 99 8p11.21 SFRP1, FRP, SARP2 P Secreted frizzled-related protein 1 604156 R, A
8.179 9 10 09 8p12 DCTN6, WS3, P27 P Dynactin 6 612963 A, Psh
8.180 11 20 98 8p12 DUSP4, MKP2, HVH2 P Dual-specificity phosphatase-4 (MAP kinase phosphatase-2) 602747 A
8.181 9 9 08 8p11.21 IDO1, INDO, IDO C Indoleamine 2,3-dioxygenase 147435 Psh, REa, A
8.182 1 20 09 8p12 RBPMS P RNA-binding protein gene with multiple splicing 601558 REc
8.183 6 4 07 8p12-q22 AD12 P Alzheimer disease 12 611073 Fd max lod at D8S1119 {Alzheimer disease 12} (2)
8.184 12 29 06 8p11.23 RAB11FIP1, RCP P RAB11 family-interacting protein 1 608737 REc
8.185 8 19 13 8p11.22 TM2D2, BLP1 P TM2 domain-containing protein 2 610081 R, REc
8.186 10 15 09 8p11.22 ADAM9, MDC9, MCMP, CORD9 P A disintegrin and metalloproteinase domain 9 602713 REc Cone-rod dystrophy 9, 612775 (3)
8.187 11 29 12 8p11.23 BAG4, SODD P Bcl2-associated athanogene 4 603884 REc
8.188 10 6 09 8p11.23 BRF2, BRFU, TFIIIB50 P BRF2 subunit of RNA polymerase III transcription initiation factor 607013 R, REc
8.189 1 29 13 8p11.23 DDHD2, KIAA0725, SPG54 P DDHD domain-containing protein 2 615003 REc Spastic paraplegia 54, autosomal recessive, 615033 (3)
8.190 1 16 07 8p11.22 HTRA4 P HTRA serine peptidase 4 610700 REc
8.191 5 6 13 8p11.23 KCNU1, SLO3 P Potassium channel, subfamily U, member 1 615215 REc
8.192 10 26 17 8p11.23 PLPP5, PPAPDC1B, HTPAP P Phospholipid phosphatase 5 610626 REc
8.193 8 6 13 8p11.23 LSM1 P LSM1 protein 607281 R, REc
8.194 7 22 16 8p11.23 ZNF703, ZEPPO1, NLZ1 P Zinc finger protein 703 617045 REc
8.195 6 9 08 8p11.21 AGPAT6, LPAATZ P 1-acylglycerol-3-phosphate O-acyltransferase 6 608143 REc
8.196 5 5 10 8p11.21 CHRNA6 P Cholinergic receptor, neuronal nicotinic, alpha polypeptide 6 606888 REc
8.197 11 30 06 8p11.21 GINS4, SLD5 P GINS complex subunit 4 610611 R, REc
8.198 7 7 09 8p11.21 HOOK3, HK3 P Hook, Drosophila, homolog of, 3 607825 REc
8.199 12 27 13 8p11.21 SLC20A2, MLVAR, GLVR2, IBGC1 C Solute carrier family 20, phosphate transporter, member 2 (murine leukemia virus, amphotropic, receptor for) 158378 S, REa Basal ganglia calcification, idiopathic, 1, 213600 (3)
8.200 5 14 09 8p11.21 THAP1, DYT6 P THAP domain-containing protein 1 609520 REc Dystonia 6, torsion, 602629 (3)
8.201 2 20 07 8p11.21 NKX6-3, NKX6.3 P NK6, Drosophila, homolog of 610772 REc 8(Nkx6-3)
8.202 11 16 05 8p11.22 ADAM2, FTNB, PH30, CRYN1, CRYN2 C A disintegrin and metalloproteinase domain 2 (fertilin, beta) 601533 A, H 14(Ftnb)
8.203 11 17 15 8p11.21 ANK1, SPH1 C Ankyrin-1, erythrocytic 612641 F, Ch, D, REa, A, Fd, REb Spherocytosis, type 1, 182900 (3) 8(nb)
8.204 5 24 13 8p11.21 AP3M2, CLA20 P Adaptor-related protein complex 3, mu-2 subunit 610469 A
8.205 1 29 01 8p11.23 ASH2L, ASH2L2, ASH2L1 P ASH2, Drosophila, homolog of 604782 REc
8.206 6 10 94 8p11.21 CHRNB3 C Cholinergic receptor, nicotinic, beta polypeptide-3 118508 REa, A
8.207 4 27 12 8p11.23 ERLIN2, SPFH2, C8orf2, SPG18 P Endoplasmic reticulum lipid raft-associated protein 2 611605 REc Spastic paraplegia 18, autosomal recessive, 611225 (3)
8.208 1 7 14 8p11.21 IKBKB, NFKBIKB, IMD15 C Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, beta 603258 A, R Immunodeficiency 15, 615592 (3)
8.209 3 8 95 8p11.21 POLB C Polymerase (DNA directed), beta 174760 REa, Fd, A 8(Polb)
8.210 1 9 17 8p11.23 PROSC, EPVB6D P Proline synthetase cotranscribed, bacteria, homolog of 604436 REn Epilepsy, early-onset, vitamin B6-dependent, 617290 (3)
8.211 5 29 12 8p11.21 RNF170, SNAX1 P RING finger protein 170 614649 REc Ataxia, sensory, 1, autosomal dominant, 608984 (3)
8.212 9 27 17 8p11.21 TCIM, C8orf4 P Transcriptional and immune response regulator 607702 A
8.213 2 12 96 8p11.23 STAR P Steroidogenic acute regulatory protein 600617 REa, A Lipoid adrenal hyperplasia, 201710 (3)
8.214 4 19 06 8p11.21 VDAC3 P Voltage-dependent anion channel 3 610029 A, H 8(Vdac3)
8.215 11 20 95 8q11.21 CEBPD C CCAAT/enhancer-binding protein (C/EBP), delta 116898 A, REa earlier mapped to 8q11 16(Cebpd)
8.216 3 3 03 8p11.21 DKK4 P Dickkopf, Xenopus, homolog of, 4 605417 A
8.217 4 8 16 8p11.23 FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL C Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2) 136350 REa, A fused with BCR, CEP1, FOP, FIM in hematologic malignancies Pfeiffer syndrome, 101600 (3); Jackson-Weiss syndrome, 123150 (3); Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3); Osteoglophonic dysplasia, 166250 (3); Trigonocephaly 1, 190440 (3); Hartsfield syndrome, 615465 (3); Encephalocraniocutaneous lipomatosis, 613001 (3)
8.218 9 10 15 8p11.2-p11.1 HGSNAT, TMEM76, MPS3C, RP73 C Heparan-alpha-glucosaminide N-acetyltransferase 610453 Fd, REc Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3); Retinitis pigmentosa 73, 616544 (3)
8.219 3 23 15 8p11.21 KAT6A, MYST3, MOZ, ZNF220, MRD32 C K(lysine) acetyltransferase 6A 601408 Ch Mental retardation, autosomal dominant 32, 616268 (3)
8.220 11 24 14 8p11.21 POMK, SGK196, MDDGA12, MDDGC12 P Protein-O-mannose kinase 615247 REc mutation in 1 MDDGC12 family has been reported Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3); ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3)
8.221 1 13 11 8p11 SCLL P Chromosome 8p11 myeloproliferative syndrome (stem cell leukemia/lymphoma) 613523 Ch translocation of FGFR1 (8p11) and various partners Chromosome 8p11 myeloproliferative syndrome (4)
8.222 1 31 01 8p11.22 TACC1 P Transforming, acidic, coiled-coil-containing protein-1 605301 REc
8.223 11 30 00 8p23.3 DLGAP2, DAP2 P Discs large associated protein 2 605438 REc, R
8.224 6 15 99 8q CCAL1 P Chondrocalcinosis 1 600668 Fd Chondrocalcinosis with early-onset osteoarthritis (2)
8.225 11 13 07 8q HBFQTL4 C Fetal hemoglobin quantitative trait locus 4 606789 Fd Fetal hemoglobin quantitative trait locus 4 (2)
8.226 10 23 87 8q GPB C Glycerol phosphatase, beta- 109640 S
8.227 10 20 99 8q21.11 RPL7 P Ribosomal protein L7 604166 REa, R pseudogene on chr.5
8.228 10 20 99 8q24.3 RPL8 P Ribosomal protein L8 604177 REa, R
8.229 12 14 00 8q24.13 ZHX1 P Zinc finger and homeodomain protein 1 604764 REa, R
8.230 7 13 93 8q12.1 MOS C Oncogene MOS, Moloney murine sarcoma virus 190060 REa, A, REb 4(Mos)
8.231 8 31 15 8q11.21 PRKDC, HYRC1, DNPK1, IMD26 C Protein kinase, DNA-activated, catalytic polypeptide (hyperradiosensitivity of murine SCID mutation, complementing-1) 600899 C, A Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3) 16(scid)
8.232 8 18 14 8q11.22-q11.23 PXDNL, PMR1, VPO2 P Peroxidasin, Drosophila, homolog-like 615904 REc
8.233 2 20 03 8q11.23 RB1CC1, CC1, KIAA0203 C RB1-inducible coiled-coil 1 606837 R Breast cancer, somatic, 114480 (3)
8.234 1 21 11 8q11.21 SNAI2, SLUG, WS2D P snail, Drosophila, homolog of, 2 (Neural crest transcription factor SLUG) 602150 Psh, R Waardenburg syndrome, type 2D, 608890 (3); Piebaldism, 172800 (3) 16(Slug)
8.235 11 30 06 8q11.21 SNTG1, SYN4 P Syntrophin, gamma-1 608714 REc, R implicated in idiopathic scoliosis
8.236 2 21 06 8q12.1 TGS1, NCOA6IP, PIMT P Trimethylguanosine synthase, S. cerevisiae, homolog of 606461 REc
8.237 2 21 10 8q12.1 CA8, CALS, CARP, CAMRQ3 P Carbonic anhydrase VIII 114815 REa, A Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3) 4(Car)
8.238 10 7 02 8q24.3 CHARC1, CHARC15, YCL1 P Chromatin accessibility complex, subunit 1 607268 REc
8.239 11 19 98 8q12.1 CYP7A1, CYP7 P Cytochrome P450, subfamily VII (cholesterol 7-alpha-monooxygenase), polypeptide 1 118455 REa, A
8.240 1 21 04 8q11.2-q12.1 RP1, ORP1 C Oxygen-regulated photoreceptor protein-1 (retinitis pigmentosa-1) 603937 Fd, R, A Retinitis pigmentosa 1, 180100 (3)
8.241 2 25 15 8q11.1 BEYLA P BEYLA gene 609543 REc
8.242 1 16 18 8q11.21 MCM4, NKGCD, NKCD, IMD54 C Minichromosome maintenance deficient, S. cerevisiae, homolog of, 4 602638 A, Fd Immunodeficiency 54, 609981 (3)
8.243 3 18 94 8q11.23 OPRK1 C Opiate receptor, kappa-1 165196 REa, A
8.244 9 9 13 8q11.21 SPIDR, KIAA0146 P Scaffolding protein involved in DNA repair 615384 REc
8.245 6 13 12 8q11.21 UBE2V2, UEV2, DDVIT1, EDPF1, MMS2 P Ubiquitin-conjugating enzyme E2 variant 2 603001 REc
8.246 2 11 11 8q11.23 NPBWR1, GPR7 P Neuropeptides B and W receptor 1 600730 A, REc previously assigned to 10q11.2-q21.1 by FISH
8.247 10 12 16 8q11.23 ST18, ZNF387, KIAA0535 P Suppression of tumorigenicity 18 617155 REc
8.248 12 15 98 8q11.23 TCEA1, TF2S, GTF2S P Transcription elongation factor A, SII, 1 601425 REa, A previously mapped to 3p22-p21.3
8.249 2 26 08 8q11.23 MRPL15 P Mitochondrial ribosomal protein L15 611828 R
8.250 4 28 10 8q11.2-q13.2 GCCD3, FGD3, GCCD2 P Glucocorticoid deficiency 3 609197 Fd between D8S285 and D8S1718 Glucocorticoid deficiency 3 (2)
8.251 4 1 03 8q11.1-q13.3 PAFC L Preauricular fistulae, congenital 128700 Fd between D8S532 and D8S279 ?Preauricular fistulae, congenital (2)
8.252 7 23 07 8q12.1 CHCHD7 P Coiled-coil-helix-coiled-coil-helix domain-containing protein 7 611238 REn
8.253 3 12 15 8q12 IS3 P Scoliosis, isolated, susceptibility to, 3 608765 Fd {Scoliosis, isolated, susceptibility to, 3} (2)
8.254 12 11 15 8q12.1 PLAG1, SGPA, PSA C Pleomorphic adenoma gene 1 603026 REc, A fused with CTNNB1 in SGPA Adenomas, salivary gland pleomorphic, somatic, 181030 (3)
8.255 4 10 90 8q21.13 IL7 P Interleukin-7 146660 REa, A
8.256 8 20 07 8q12-q13 MTBS2 P Mycobacterium tuberculosis, susceptibility to, 2 611046 Fd max lod at D8S1723 {Mycobacterium tuberculosis, susceptibility to, 2} (2)
8.257 10 24 00 8q12.1 NSMAF, FAN P Neutral sphingomyelinase activation-associated factor 603043 A
8.258 12 21 10 8q11.23 SOX17, VUR3 P SRY-box 17 610928 REc Vesicoureteral reflux 3, 613674 (3)
8.259 2 18 09 8q12.1 ANIB10 P Aneurysm, intracranial berry, 10 612587 Fd associated with rs10958409 {Aneurysm, intracranial berry, 10} (2)
8.260 7 15 14 8q12.3 ASPH, HAAH, FDLAB C Aspartate beta-hydroxylase (junctin; junctate) 600582 REc, A Traboulsi syndrome, 601552 (3)
8.261 3 12 14 8q12.2 CHD7, HH5 C Chromodomain helicase DNA binding protein 7 608892 R, REc CHARGE syndrome, 214800 (3); Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3)
8.262 4 2 16 8q12.1 FAM110B, C8orf72 P Family with sequence similarity 110, member B 611394 REc
8.263 7 22 11 8q12.1 IMPAD1, GPAPP, IMPA3 P Inositol monophosphatase domain-containing protein 1 614010 REc Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3)
8.264 2 28 03 8q12.1-q12.2 RAB2, RAB2A P Ras-associated protein RAB2 179509 REc
8.265 11 2 04 8q12.1 RDHE2 P Retinal dehydrogenase, epidermal, 2 608989 REc
8.266 9 19 00 8q12.1 RPS20 C Ribosomal protein S20 603682 REa, R, REc
8.267 9 20 14 8q12.1 SDCBP, TACIP18, MDA9 P Syndecan-binding protein 602217 REc
8.268 3 22 13 8q12.1 TOX, KIAA0808 P Thymus high mobility group box protein, mouse, homolog of 606863 R, REc
8.269 6 2 15 8q12.1 UBXN2B, LOC137886, p37 P UBX domain protein 2B 610686 REc
8.270 5 11 16 8q12.2-q12.3 CLVS1, RLBP1L1, CRALBPL P Clavesin 1 611292 REc
8.271 5 4 12 8q12.2-q21.2 DEL8q12q21, C8DELq12q21 P Bor-Duane hydrocephalus contiguous gene syndrome (chromosome 8q12.1-q21.2 deletion syndrome) 600257 Ch Bor-Duane hydrocephalus contiguous gene syndrome (4)
8.272 7 16 09 8q12.3 NKAIN3 P Na+/K+ transporting ATPase-interacting 3 612872 REc 4(Nkain3)
8.273 2 22 13 8q12.2-q21.2 HDCPH1 L Hydrocephalus, autosomal dominant 123155 Ch ?Hydrocephalus, autosomal dominant (2)
8.274 7 18 06 8q12.3 GGH P Gamma-glutamyl hydrolase 601509 REc
8.275 5 24 13 8q13.1 SGK3, SGKL, CISK P Serum/glucocorticoid-regulated kinase 3 607591 R
8.276 8 31 99 8q13.2 ARFGEF1, ARFGEP1, BIG1, P200 P ADP-ribosylation factor guanine nucleotide exchange factor 1 604141 R
8.277 9 30 10 8q12.3 BHLHE22, BHLHB5, BETA3 P Basic helix-loop-helix family, member E22 613483 A, H 3(Bhlhe22)
8.278 1 18 12 8q13.2 CPA6, CPAH, ETL5, FEB11 P Carboxypeptidase A6 609562 REc Epilepsy, familial temporal lobe, 5, 614417 (3); Febrile seizures, familial, 11, 614418 (3)
8.279 9 3 09 8q13.1 CRH C Corticotropin releasing hormone 122560 REa, A 3(Crh)
8.280 10 29 10 8q13 DEL8q13, C8DELq13 P Mesomelia-synostoses syndrome (Chromosome 8q13 deletion syndrome) 600383 REc contiguous gene deletion of SULF1 and SLCO5A1 Mesomelia-synostoses syndrome (4)
8.281 8 9 99 8q13 DURS1, DUS C Duane retraction syndrome 1 126800 Ch Duane retraction syndrome 1 (2)
8.282 9 2 08 8q13.1 SNHG6, U87HG P Small nucleolar RNA host gene 6 612215 R, REc
8.283 6 29 98 8q21.11 TERF1, TRF1 P Telomeric repeat binding factor 1 600951 A, Psh 17(Trf1)
8.284 9 2 08 8q13.1 SNORD87, U87 P Small nucleolar RNA, C/D box, 87 612216 REc within intron 2 of SNHG6
8.285 7 28 17 8q21.11 TRPA1, ANKTM1, FEPS1 P Transient receptor potential cation channel, subfamily A, member 1 (ankyrin-like protein with transmembrane domains 1) 604775 A mutation identified in 1 FEPS1 family ?Episodic pain syndrome, familial, 1, 615040 (3)
8.286 1 22 08 8q13.1 VCPIP1 VCIP135, KIAA1850 P VCP/p47 complex-interacting protein 1 611745 R, REc
8.287 8 9 05 8q13-q21 FEB1 P Febrile seizures, familial, 1 121210 Fd Febrile seizures, familial, 1 (2)
8.288 2 18 96 8q22.1 GEM P GTP-binding protein overexpressed in skeletal muscle 600164 Fd 4(Gem)
8.289 5 14 01 8q21.11 STAU2 P Staufen, Drosophila, homolog of, 2 605920 REc
8.290 11 3 11 8q21.11 UBE2W, UBC16 P Ubiquitin-conjugating enzyme 2W 614277 REc
8.291 10 13 94 8q13.1 PDE7A, HCP1 P Phosphodiesterase-7A 171885 REa
8.292 3 25 15 8q13-q23 CMT2H P Charcot-Marie-Tooth disease, axonal, type 2H 607731 Fd between D8S1807 and D8S548 Charcot-Marie-Tooth disease, axonal, type 2H (2)
8.293 8 22 90 8q12.1 LYN P Yamaguchi sarcoma viral (v-yes-1) related oncogene homolog 165120 REa 4(Lyn)
8.294 8 21 07 8q13.1 ADHFE1, HOT, ADH8 C Alcohol dehydrogenase, iron-containing, 1 611083 REc
8.295 5 23 11 8q13.1 DNAJC5B P DNAJ/HSP40 homolog, subfamily C, member 5, beta 613945 REc
8.296 6 27 17 8q13.1 MCMDC2, C8orf45 P Minichromosome maintenance domain-containing protein 2 617545 REc
8.297 10 25 17 8q13.1 PPP1R42, TLRR, LRRC67 P Protein phosphatase 1, rebulatory subunit 42 617720 REc
8.298 2 5 13 8q13.1 TRIM55, RNF29, MURF2 P Tripartite motif containing 55 606469 REc, R
8.299 10 10 11 8q13.2 PREX2, DEPDC2 C Phosphatidylinositol 3,4,5-trisphosphate-dependent RAC exchanger 2 612139 REc
8.300 12 11 95 8q12.3 TTPA, TTP1, AVED C Tocopherol, alpha, transfer protein 600415 Fd, LD, REc, A, REa Ataxia with isolated vitamin E deficiency, 277460 (3)
8.301 6 13 12 8q13.1 COPS5, JAB1, SGN5 P COP9, subunit 5 604850 REc
8.302 2 21 14 8q13.1-q13.2 CSPP1, CSPP, JBTS21 P Centrosome spindle pole-associated protein 1 611654 REc Joubert syndrome 21, 615636 (3)
8.303 9 7 10 8q13.3 NCOA2, GRIP1, TIF2, SRC2 P Nuclear receptor coactivator 2 601993 fused with MOZ in AML
8.304 1 5 17 8q13.3 EYA1, BOR, BOS1, OFC1 C Eyes absent, Drosophila, homolog of, 1 601653 REc, Fd, Ch mutation identified in 1 OFC1 family Branchiootorenal syndrome 1, with or without cataracts, 113650 (3); Anterior segment anomalies with or without cataract, 602588 (3); Branchiootic syndrome 1, 602588 (3); ?Otofaciocervical syndrome, 166780 (3)
8.305 8 18 14 8q13.3 MSC, ABF1, MYOR P Musculin 603628 REc
8.306 10 7 13 8q24.13 NDUFB9, UQOR22 P NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22) 601445 REc mutation identified in 1 family ?Mitochondrial complex I deficiency, 252010 (3)
8.307 2 11 08 8q13.3 PRDM14, PFM11 P PR domain-containing protein 14 611781 A
8.308 8 27 15 8q13.3 SLCO5A1, OATPRP4, SLC21A15, OATPJ, OATP5A1 P Solute carrier organic anion transporter family, member 5A1 613543 REc
8.309 5 19 06 8q13.2-q13.3 SULF1, KIAA1077 C Sulfatase 1 610012 REc 1(Sulf1)
8.310 11 27 13 8p21.3 POLR3D, BN51T, TSBN51 P Polymerase III, RNA, subunit D 187280 REa, A
8.311 12 9 15 8q21.11 JPH1, JP1, CMT2K P Junctophilin 1 605266 A mutation identified in 1 CMT2K family ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, 607831 (3)
8.312 9 18 08 8q21.3 CNGB3, ACHM3, ACHM1 C Cyclic nucleotide-gated channel, beta-3 605080 REc, Fd Achromatopsia 3, 262300 (3); Macular degeneration, juvenile, 248200 (3)
8.313 11 10 06 8q21-q22 OPA6 P Optic atrophy 6 258500 Fd between D8S1702 and D8S1794 Optic atrophy 6 (2)
8.314 12 14 06 8q24.3 CYP11B1, P450C11, FHI C Cytochrome P450, subfamily XIB, polypeptide 1 (11-beta-hydroxylase; corticosteroid methyl-oxidase II (CMO II)) 610613 REa, A, Ch chimeric CYP11B1/CYP11B2 gene = anti-Lepore-like Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3); Aldosteronism, glucocorticoid-remediable, 103900 (3)
8.315 12 14 06 8q24.3 CYP11B2 C Cytochrome P450, subfamily XIB, polypeptide 2 124080 REa Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3); Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3); {Low renin hypertension, susceptibility to} (3); Aldosterone to renin ratio raised (3)
8.316 6 19 98 8q21.13 FABP4 P Fatty acid-binding protein-4, adipocyte 600434 A
8.317 10 7 09 8q21.13 HNF4G P Hepatocyte nuclear factor 4-gamma 605966 Psh, REc 3(Hnf4g)
8.318 3 2 98 8q21.3 MMP16 C Matrix metalloproteinase 16 (membrane-inserted) 602262 A
8.319 1 7 16 8q21.3 NBN, NBS1 C Nibrin 602667 Fd, M Nijmegen breakage syndrome, 251260 (3); Aplastic anemia, 609135 (3); Leukemia, acute lymphoblastic, 613065 (3)
8.320 5 25 13 8q21.13 TPD52, D52 P Tumor protein D52 604068 A
8.321 8 24 09 8q21.3 WWP1, TIUL1 P WW domain-containing protein 1 602307 A
8.322 10 25 12 8q21.13 PEX2, PAF1, PMP35, PBD5A, PBD5B, PXMP3 C Peroxisome biogenesis factor 2 170993 RE Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3); Peroxisome biogenesis disorder 5B, 614867 (3) 3(Pxmp3)
8.323 4 24 08 8q21.13 MRPS28, MRPS35 P Mitochondrial ribosomal protein S28 611990 R, REc
8.324 10 23 87 8q21.1-qter GLYB P Glycine auxotroph B, complementation of hamster 138480 S gly(-)B
8.325 9 21 11 8q21.11 DEL8q21.11, C8DELq21.11 P Chromosome 8q21.11 deletion syndrome 614230 Ch contiguous gene deletion; minimal region (GRCh37, 8:77226464-77766239 Chromosome 8q21.11 deletion syndrome (4)
8.326 8 29 13 8q21.11 GDAP1, CMT4A, CMT2K, CMTRIA C Ganglioside-induced differentiation-associated protein 1 606598 Fd, REc Charcot-Marie-Tooth disease, type 4A, 214400 (3); Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3); Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3); Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
8.327 5 30 13 8q21.11 LY96, MD2 P Lymphocyte antigen 96 605243 REc
8.328 7 1 11 8q21.11 TMEM70, MC5DN2 P Transmembrane protein 70 612418 REc Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
8.329 4 23 12 8q21.13 CHMP4C, SNF7-3 P CHMP family, member 4C 610899 REc
8.330 6 11 02 8q21.13 ZFHX4, ZFH4 P Zinc finger homeobox 4 606940 H, Ch ?Ptosis, congenital, 178300 (2)
8.331 10 6 09 8q21.13 FABP5, PAFABP, EFABP P Fatty acid-binding protein 5 605168 H, REc 3(Fabp5)
8.332 9 20 14 8q21.13 PI15, P25TI P Protease inhibitor 15 607076 REc
8.333 12 10 12 8q21.13 SNX16 P Sorting nexin 16 614903 REc
8.334 5 4 12 8q21.13 STMN2, SCGN10, SCG10 P Stathmin-like 2 600621 R, REc
8.335 2 17 09 8q21.13 STQTL15 P Stature quantitative trait locus 15 612578 Fd associated with rs2220456 {Stature QTL 15} (2)
8.336 2 2 17 8q21.13 IMPA1, MRT59 P Inositol(myo)-1(or 4)-monophosphatase-1 602064 Psh, REc Mental retardation, autosomal recessive 59, 617323 (3)
8.337 11 4 15 8q22.1 TMEM67, MKS3, JBTS6, NPHP11 C Transmembrane protein 67 (meckelin) 609884 Fd, REc Meckel syndrome 3, 607361 (3); Joubert syndrome 6, 610688 (3); {Bardet-Biedl syndrome 14, modifier of}, 615991 (3); COACH syndrome, 216360 (3); Nephronophthisis 11, 613550 (3)
8.338 8 18 14 8q21.2 E2F5 P E2F transcription factor 5 600967 REc
8.339 11 29 17 8q21.2 LRRCC1, CLERK, KIAA1764 P Leucine-rich repeat- and coiled-coil domain-containing centrosomal protein 1 617791 REc
8.340 5 18 12 8q21.2 RALYL P RALY-like protein 614648 REc
8.341 3 1 16 8q22.3 SLC25A32, MFT, RREI P Solute carrier family 25 (mitochondrial carrier, folate), member 32 610815 REc mutation identified in 1 RREI patient ?Exercise intolerance, riboflavin-responsive, 616839 (3) 15(Slc25a32)
8.342 3 22 06 8q21.3 TMEM55A P Transmembrane protein 55A 609864 REc
8.343 10 6 09 8q21.3 CPNE3, CPN3 P Copine III 604207 R, REc
8.344 4 25 12 8q12.3 CYP7B1, CBAS3, SPG5A C Cytochrome P450, subfamily VIIB (oxysterol 7-alpha-hydroxylase), polypeptide 1 603711 R, Fd Bile acid synthesis defect, congenital, 3, 613812 (3); Spastic paraplegia 5A, autosomal recessive, 270800 (3)
8.345 9 23 14 8q21.3 DECR1 P 2,4-dienoyl CoA reductase 222745 A
8.346 3 4 08 8q21.3 FAM82B, RMD1 P Family with sequence similarity 82, member B 611871 REc
8.347 3 23 14 8q21.3 OSGIN2, C8orf1 P Oxidative stress-induced growth inhibitor family member 2 604598 REc
8.348 5 3 17 8q21.3 OTUD6B, DUBA5, IDDFSDA P OTU domain-containing protein 6B 612021 REc Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3)
8.349 5 21 14 8q21.3 RIPK2, CARDIAK, RIP2, RICK P Receptor-interacting serine/threonine kinase 2 603455 REc
8.350 12 15 16 8q21.3 SLC7A13, AGT1, XAT2 P Solute carrier family 7, member 13 617256 REc
8.351 12 5 13 8q22.1 RAD54B P RAD54, S. cerevisiae, homolog of, B 604289 A Lymphoma, non-Hodgkin, somatic, 605027 (3); Colon cancer, somatic, 114500 (3)
8.352 9 13 99 8q21.3 CALB1 P Calbindin 1, 28kD 114050 REa, A 4(Calb)
8.353 10 4 93 8q21.13 PMP2 C Peripheral myelin protein-2 170715 REb, A not involved in CMT4A
8.354 6 28 99 8q23.1 ANGPT1, ANG1 C Angiopoietin-1 601667 A, R, H 15(Angpt1)
8.355 10 13 94 8q21.2 CA1 C Carbonic anhydrase I 114800 REa, H, A 3(Car1)
8.356 10 3 07 8q21.2 CA2 C Carbonic anhydrase II 611492 REa, H CA1, CA2 linked in monkey and mouse Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3) 3(Car2)
8.357 6 4 90 8q21.2 CA3 C Carbonic anhydrase III 114750 REa, A 3(Car3)
8.358 4 14 10 8q22.3 DPYS, DHP P Dihydropyrimidinase 613326 A Dihydropyrimidinuria, 222748 (3)
8.359 9 30 14 8q22.3 GRHL2, TFCP2L3, DFNA28, ECTDS P Grainyhead-like 2 608576 REc Deafness, autosomal dominant 28, 608641 (3); Ectodermal dysplasia/short stature syndrome, 616029 (3)
8.360 6 30 05 8q22.2 HRSP12, PSP, UK114 P Heat-responsive protein 12 602487 REc
8.361 1 25 05 8q22 HTC1 L Hypertrichosis universalis congenita, Ambras type 145701 Ch ?Hypertrichosis universalis congenita, Ambras type (2)
8.362 11 20 98 8q22.2 KCNS2 P Potassium voltage-gated channel, delayed-rectifier, subfamily S, member-2 602906 REc
8.363 1 23 01 8q22.1-q22.2 MATN2 P Matrilin 2 602108 A
8.364 9 19 91 8q13.1 MYBL1 P Avian myeloblastosis viral (v-myb) oncogene homolog like-1 159405 REa, A
8.365 11 27 94 8q22.3 ODF1 P Outer dense fiber of sperm tails 1 182878 REa, A 15(Odf1)
8.366 3 22 16 8q22.2 POP1, ANXD2 P Processing of precursor 1, S. cerevisiae, homolog of 602486 A Anauxetic dysplasia 2, 617396 (3)
8.367 2 10 14 8q22.1 PTDSS1, PSS1, KIAA0024, LMHD C Phosphatidylserine synthase 1 612792 Psh, H, REc Lenz-Majewski hyperostotic dwarfism, 151050 (3) 13(Pss1)
8.368 4 24 12 8q21.3 RUNX1T1, CBFA2T1, AML1T1, ETO P unt-related transcription factor 1, translocated to, 1, cyclin D-related 133435 Ch fused with AML1 in t(8;21) 4(Cbfa2t1h)
8.369 1 28 01 8q22.1 TP53DINP1, P53DINP1 P Tumor protein p53 inducible nuclear protein 1 606185 A
8.370 5 4 00 8q22.3 PABPC1, PAB1, PABP1, PABP P Polyadenylate-binding protein, cytoplasmic, 1 604679 Psh
8.371 11 11 13 8q22.2 SPAG1, CILD28 P Sperm-associated antigen-1 603395 R Ciliary dyskinesia, primary, 28, 615505 (3)
8.372 5 19 06 8q22.3 TM7SF4, DCSTAMP, FIND P Transmembrane 7 superfamily, member 4 605933 A
8.373 7 18 12 8q22.1 TSPYL5, KIAA1750 P TSPY-like 5 614721 REc
8.374 4 8 13 8q22.1 UQCRB, UQBP, QPC, MC3DN3 P Ubiquinol-cytochrome c reductase binding protein 191330 REa Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)
8.375 6 16 99 8q22.2 COX6C P Cytochrome c oxidase, subunit VIc 124090 A, R pseudogene on 16p12
8.376 10 3 07 8q23.1 EIF3E, EIF3S6, INT6 P Eukaryotic translation initiation factor 3, subunit E (oncogene INT6) 602210 Psh, H 15(Int6)
8.377 9 9 09 8q22.1 MTDH, AEG1, LYRIC C Metadherin 610323 A, REc 15(Mtdh)
8.378 7 22 13 8q22.2 VPS13B, KIAA0532, COH1 C Vacuolar protein sorting 13, yeast, homolog of, B 607817 Fd, REc Cohen syndrome, 216550 (3)
8.379 8 19 98 8q22.1 SDC2, HSPG1 P Syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated; fibroglycan) 142460 REa, A
8.380 3 28 17 8q22.1 C8orf37, CORD16, RP64, BBS21 P Chromosome 8 open reading frame 37 614477 REc Retinitis pigmentosa 64, 614500 (3); Cone-rod dystrophy 16, 614500 (3); Bardet-Biedl syndrome 21, 617406 (3)
8.381 3 31 15 8q22.1 CCNE2 P Cyclin E2 603775 REc
8.382 11 4 98 8q22.1 CDH17, CDH16, HPT1 P Cadherin-17, liver-intestine 603017 Psh, A
8.383 4 28 14 8q22.1 DUP8q22.1, C8DUPq22.1 P Chromosome 8q22.1 duplication syndrome (Leri pleonosteosis) 151200 Ch duplication of 0.9-1.2 Mb on 8q22.1 Leri pleonosteosis chromosome duplication syndrome (4)
8.384 12 27 16 8q22.1 FAM92A, FAM92A1 P Family with sequence similarity 92, member A 617273 REc
8.385 4 10 15 8q22.1 FSBP P Fibrinogen silencer-binding protein 616306 REc
8.386 3 23 14 8q22.1 INTS8, INT8 P Integrator complex subunit 8 611351 R, REc
8.387 7 9 15 8q22.1 KIAA1429 P KIAA1429 gene 616447 REc
8.388 5 2 16 8q22.1 MTERF3, MTERFD1 P Transcription termination factor 3, mitochondrial 616930 REc
8.389 3 14 13 8q22.1 NDUFAF6, C8orf38 P NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 612392 REc Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
8.390 5 4 12 8q22.1 NMLFS, DEL8q22.1, C8DELq22.1 P Nablus mask-like facial syndrome (chromosome 8q22.1 deletion syndrome) 608156 Ch Nablus mask-like facial syndrome (4)
8.391 4 15 11 8q22.1 DPY19L4 P DPY19-like 4 613895 REc
8.392 9 10 09 8q22.1 ESRP1, RMB35A P Epithelial splicing regulatory protein 1 612959 REc
8.393 3 5 18 8q22.1 GDF6, MCOP4, KFS1, MCOPCB6, LCA17, SYNS4 P Growth/differentiation factor 6 601147 REc, Ch Klippel-Feil syndrome 1, autosomal dominant, 118100 (3); Microphthalmia, isolated 4, 613094 (3); Microphthalmia with coloboma 6, digenic, 613703 (3); Leber congenital amaurosis 17, 615360 (3); Multiple synostoses syndrome 4, 617898 (3)
8.394 3 16 10 8q22.1 LAPTM4B P Lysosome-associated protein, transmembrane 4, beta 613296 REc pseudogenes on 1q, 3q,3p, 4q, and 7q33-q35
8.395 2 2 10 8q22.1 PDP1, PPM2C, PDPC P Pyruvate dehydrogenase phosphatase catalytic subunit 1 605993 R, REc Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)
8.396 5 6 13 8q22.1 PLEKHF2, EAPF, PHAFIN2 P Pleckstrin homology domain-containing protein, family F, member 2 615208 REc
8.397 5 13 13 8q22.3 KLF10, TIEG P Kruppel-like factor 10 601878 REc, H 1(Klf10)
8.398 6 17 02 8q22.3 NCALD P Neurocalcin, delta 606722 R
8.399 2 25 14 8q22.2 RGS22 P Regulator of G protein signaling 22 615650 REc
8.400 11 11 14 8q22.2 STK3, MST2, KRS1 P Serine/threonine protein kinase 3 605030 REc
8.401 10 6 09 8q22.3 ATP6V1C1, ATP6C, ATP6D P ATPase, H+ transporting, lysosomal, 42-kD, V1 subunit C, isoform 1 603097 R, REc
8.402 8 18 08 8q22.3 AZIN1, OAZIN P Antizyme inhibitor 1 607909 R, REc
8.403 1 11 02 8q22.3 BAALC P Brain and acute leukemia gene, cytoplasmic 606602 REc
8.404 10 5 11 8q22.3 CTHRC1 P Collagen triple-helix repeat-containing protein 1 610635 R, REc Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
8.405 2 4 15 8q22.3 DCAF13, WDSOF1 P DDB1- and CUL4-associated factor 13 616196 REc
8.406 9 9 08 8q22.2 FBXO43, EMI2, ERP1, FBX43 P F-box only protein 43 609110 REc, H 15(Fbxo43)
8.407 1 8 06 8q22.3 KTWS, KTS P Klippel-Trenaunay-Weber syndrome 149000 Ch translocation with 14q13 Klippel-Trenaunay-Weber syndrome (2)
8.408 10 8 12 8q22.3 UBR5, EDD1, HYD, KIAA0896 P Ubiquitin protein ligase E3 component n-recognin 5 608413 A
8.409 3 24 10 8q22.3 YWHAZ P Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 601288 A pseudogene on 2p25
8.410 3 29 10 8q22.3 MMD2 P Miyoshi muscular dystrophy 2 613318 Fd max lod at D10S2325 Miyoshi muscular dystrophy 2 (2)
8.411 8 25 11 8q22.3 FZD6, NDNC10 P Frizzled, Drosophila, homolog of, 6 603409 A Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3) 15(Mfz6)
8.412 3 22 07 8q23.2 KCNV1, KV8.1 P Potassium channel, voltage-gated, subfamily V, member 1 608164 A
8.413 12 7 07 8q23.1 ABRA, STARS P Actin-binding RHO-activating protein 609747 REc
8.414 7 17 01 8q23.1 CML66 P Immunogenic tumor antigen CML66 606109 A
8.415 6 16 99 8q24.12 COL14A1, UND P Collagen, type XIV, alpha-1 (undulin) 120324 A
8.416 8 20 08 8q23 CRCS6 P Colorectal cancer, susceptibility to, 6 612231 Fd associated with rs16892766 {Colorectal cancer, susceptibility to, 6} (2)
8.417 4 19 01 8q23.2 EBAG9, RCAS1, EB9 P Estrogen receptor-binding site-associated antigen 9 605772 A
8.418 9 9 98 8q23 GLC1D P Glaucoma 1, open angle, D 602429 Fd Glaucoma 1D, primary open angle (2)
8.419 12 7 07 8q23.2 GOLSYN, SYBU, KIAA1472 C Golgi-localized syntaphilin-related protein 611568 REc, H 15(Golsyn)
8.420 12 17 07 8q23 HDLCQ2 P High density lipoprotein cholesterol level QTL 2 607053 Fd [High density lipoprotein cholesterol level QTL 2] (2)
8.421 5 4 09 8q23 LBMQTL1 P Lean body mass quantitative trait locus 1 612729 Fd associated with rs16892496 and rs7832552 [Lean body mass QTL 1] (2)
8.422 10 24 12 8q23 MYMY3 P Moyamoya disease 3 608796 Fd max lod at D8S546 Moyamoya disease 3 (2)
8.423 7 30 09 8q22.2 OSR2 P Odd-skipped-related 2 611297 REc
8.424 2 5 01 8q23.1 OXR1 P Oxidation resistance 1 605609 REc ?pseudogene on chr.15
8.425 9 2 09 8q23.1-q23.2 PKHD1L1 P PKHD1-like 1 607843 REc
8.426 7 18 14 8q22.3 RIMS2, KIAA0751, RIM2, OBOE C Regulating synaptic membrane exocytosis-2 606630 R, REc
8.427 5 27 05 8q23.1 TRHR C Thyrotropin-releasing hormone receptor 188545 A, H, REa Thyrotropin-releasing hormone resistance, generalized (3) 15(Trhr)
8.428 11 3 14 8q23.1 ZFPM2, FOG2, DIH3, SRXY9 C Zinc finger protein, multitype 2 (friend of GATA2) 603693 R, REc Tetralogy of Fallot, 187500 (3); Diaphragmatic hernia 3, 610187 (3); 46XY sex reversal 9, 616067 (3)
8.429 1 10 02 8q23-q24 HT P Hashimoto thyroiditis 140300 Fd ?chr.12 Hashimoto thyroiditis (2)
8.430 10 11 07 8q23-q24 MGS P Mungan syndrome 611376 Fd between D8S1830 and D8S1799 Mungan syndrome (2)
8.431 10 23 87 8q12.1 PENK P Proenkephalin 131330 REa, A
8.432 1 8 95 8q24.12 SNT2B1, A1B, SNTB1 P Syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic basic component 1) 600026 REa, A
8.433 4 18 07 8q24.22 ZFAT1, ZNF406, AITD3 P Zinc finger gene in autoimmune thyroid disease 1 610931 REn {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
8.434 4 17 17 8q24.12 COLEC10, CLL1, 3MC3 P Collectin 10 607620 A 3MC syndrome 3, 248340 (3)
8.435 2 25 15 8q23.1 EMC2, KIAA0103 P ER membrane protein complex subunit 2 607722 REa
8.436 12 27 10 8q22.3 RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B P Ribonucleotide reductase M2 B, TP53 inducible 604712 A Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3); Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
8.437 10 15 09 8q23.1 RSPO2, CRISTIN2 P R-spondin family, member 2 610575 REc 15(Rspo2)
8.438 4 26 11 8q23.1 TMEM74 P Transmembrane protein 74 613935 REc
8.439 1 27 04 8q23.3 CSMD3, KIAA1894 P Cub and Sushi multiple domains 3 608399 REc
8.440 12 24 08 8q24.3 ARC, KIAA0278 C Activity-regulated cytoskeleton-associated protein 612461 R, A
8.441 9 1 16 8q24.3 ADGRB1, BAI1, GDAIF P Adhesion G protein-coupled receptor B1 602682 A
8.442 11 30 06 8q24.3 BOP1, KIAA0124 C Block of proliferation 1 610596 Psh, REc
8.443 12 29 06 8q24 BSZQTL3 P Bone size quantitative trait locus 3 610649 Fd [Bone size quantitative trait locus 3] (2)
8.444 8 20 08 8q24 CRCS2 P Colorectal cancer, susceptibility to, 2 611469 Fd associated with rs7014346 {Colorectal cancer, susceptibility to, 2} (2)
8.445 11 11 98 8q24 ECA1 P Epilepsy, childhood absence, 1 600131 Fd Epilepsy, childhood absence, 1 (2)
8.446 10 28 10 8q24 EIG1 P Epilepsy, idiopathic generalized, susceptibility to 1 600669 Fd ?same as EBN2 {Epilepsy, idiopathic generalized, susceptibility to, 1} (2)
8.447 5 11 16 8q24.3 AGO2, EIF2C2 P Argonaute 2, RISC catalytic component 606229 R, REc
8.448 12 15 17 8q24.3 GPAA1, GAA1, GPIBD15 P Glycophosphatidylinositol anchor attachment protein 1 603048 A, R Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3)
8.449 8 10 99 8q24.22 HHLA1 P Human endogenous retrovirus-H long terminal repeat-associating 1 604109 A, R
8.450 8 9 07 8q24 HPC10 C Prostate cancer, hereditary, 10 611100 Fd strongest assoc. with rs1447295 {Prostate cancer, hereditary, 10} (2)
8.451 2 22 92 8q24 HPV18I1 P Human papillomavirus type 18 integration site-1 167959 A
8.452 10 7 09 8q24.3 JRK, JH8 C Jerky, mouse, homolog of 603210 R, A 15(Jrk)
8.453 2 2 18 8q24.22 KCNQ3, EBN2, BFNC2 C Potassium voltage-gated channel, KQT-like subfamily, member 3 602232 Psh, R, Fd Seizures, benign neonatal, 2, 121201 (3)
8.454 12 19 11 8q24 FAME1, BAFME1, MEBA C Epilepsy, myoclonic, adult familial, 1 601068 Fd Epilepsy, myoclonic, familial adult, 1 (2)
8.455 3 30 18 8q24.3 MAFA, RIPE3B1, INSDM P v-MAF avian musculoaponeurotic fibrosarcoma oncogene homolog A 610303 REc Insulinomatosis and diabetes mellitus, 147630 (3)
8.456 8 10 99 8q24.22 OC90, PLA2L P Otoconin 90 (phospholipase A2-like) 601658 A, R PLA2L = fusion between HHLA1 and OC90
8.457 10 12 14 8q24.21 PCAT1 P Prostate cancer-associated transcript 1, noncoding 616043 REc
8.458 7 28 15 8q24.3 PLEC1, PLEC, PLTN, EBS1, LGMD2Q, EBSOG, EBSPA, EBSMD, EBSND C Plectin 1 601282 A, Psh, Fd mutation identified in 1 EBSND family Epidermolysis bullosa simplex with muscular dystrophy, 226670 (3); Epidermolysis bullosa simplex, Ogna type, 131950 (3); Epidermolysis bullosa simplex with pyloric atresia, 612138 (3); Muscular dystrophy, limb-girdle, type 2Q, 613723 (3); ?Epidermolysis bullosa simplex with nail dystrophy, 616487 (3)
8.459 10 15 13 8q24.21 PRNCR1, PCAT8 P Prostate cancer-associated noncoding RNA 1 615452 REc
8.460 4 20 17 8q24.22 PTCSC1, NCRNA00197 P Papillary thyroid carcinoma susceptibility candidate 1 gene 617440 REc
8.461 10 23 87 8q24.21 PVT1 P Oncogene PVT-1 (MYC activator) 165140 RE, Ch
8.462 7 18 12 8q24.11 RAD21, SCC1, NXP1, KIAA0078, CDLS4 C Rad21, S. pombe, homolog of 606462 REa, A Cornelia de Lange syndrome 4, 614701 (3)
8.463 3 26 07 8q24.3 SPATC1 P Spermatogenesis- and centriole-associated 1 (speriolin) 610874 REc, H 15(Spatc1)
8.464 6 30 15 8q24.12 TNFRSF11B, OPG, OCIF, PDB5 C Tumor necrosis factor receptor superfamily, member 11B (osteoprotegerin) 602643 R Paget disease of bone 5, juvenile-onset, 239000 (3)
8.465 7 13 93 8q24.3 ZNF7, KOX4 C Zinc finger protein-7 (KOX4) 194531 A, REa
8.466 9 28 96 8q24.3 ZNF16, KOX9 P Zinc finger protein-16 (KOX 9) 601262 A, REc
8.467 8 28 01 8q24.3 LY6D, E48 P Lymphocyte antigen 6 complex, locus D 606204 REa, A ?pseudogene ono 15q22
8.468 7 6 99 8q24.3 PTK2, FADK P PTK2 protein tyrosine kinase 600758 Psh, H 15(Fadk)
8.469 9 28 00 8q24.12 ENPP2, PDNP2 P Ectonucleotide pyrophosphatase/phosphodiesterase 2 601060 A
8.470 2 26 04 8q24.13 MTSS1, MIM, KIAA0429 C Metastasis suppressor 1 608486 R, REc
8.471 7 13 93 8q24.12 NOV P Nephroblastoma overexpressed gene 164958 REa, A proximal to MYC 15(nov)
8.472 8 20 07 8q24.13 RNF139, TRC8, RCA1 P RING finger protein 139 603046 Ch Renal cell carcinoma, 144700 (3)
8.473 8 16 99 8q24.13 SQLE C Squalene epoxidase 602019 R, Psh, A
8.474 10 1 99 8q24.1 THM L Tibial hemimelia 275220 D ?Tibial hemimelia (2)
8.475 10 16 98 8q24.13 ANX13, ISA P Annexin XIII 602573 A
8.476 7 20 15 8q24.21-q24.22 ASAP1, DDEF1 P Arf GTPase-activating protein with SH3 domain, ankyrin repeat, and PH domain 1 605953 R
8.477 10 13 09 8q24.21 GSDMC, MLZE P Gasdermin C 608384 A
8.478 9 23 08 8q24.3 KCNK9, TASK3 C Potassium channel, subfamily K, member 9 605874 REc Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)
8.479 5 16 01 8q24.12 MTBP P Mouse double minute 2 homolog, binding protein of 605927 A
8.480 3 29 99 8q24.22 WISP1 P Wnt-1 inducible signaling pathway protein 1 603398 R
8.481 10 3 07 8q23.3-q24.1 EIF3H, EIF3S3 P Eukaryotic translation initiation factor 3, subunit H 603912 REc
8.482 1 27 11 8q24.11 MED30, TRAP25, THRAP6 P Mediator complex subunit 30 610237 A
8.483 2 25 08 8q24.11 SLC30A8, ZNT8 P Solute carrier family 30 (zinc transporter), member 8 611145 REc {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) 15(Slc30a8)
8.484 1 27 04 8q24.11 EXT1 C Exostosin 1 608177 Ch, Fd distal to TRPS1 Exostoses, multiple, type 1, 133700 (3); Chondrosarcoma, 215300 (3) 15(Ext1)
8.485 12 14 10 8q24.11-q24.13 TRPS2, LGCR, LGS C Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome) 150230 Ch contiguous gene syndrome involving TRPS1 and EXT1 Trichorhinophalangeal syndrome, type II (4)
8.486 9 10 09 8q24.12 DEPDC6, DEPTOR P DEP domain-containing protein 6 612974 REc
8.487 2 2 10 8q24.12 DSCC1, DCC1 P Defective in sister chromatid cohesion 1, S. cerevisiae, homolog of 613203 REc
8.488 6 19 98 8q24.13 HAS2 P Hyaluronan synthase-2 601636 Psh, REc 15(Has2)
8.489 4 6 15 8q24.12 MRPL13, RPML13, L13A P Mitochondrial ribosomal protein L13 610200 R, REc
8.490 1 14 14 8q24.12 TAF2, TAF2B, TAFII150, CIF150, MRT40 P TAF2 RAN polymerase II, TATA box-binding protein-associated factor, 150kD 604912 REc Mental retardation, autosomal recessive 40, 615599 (3)
8.491 7 20 06 8q23.3 TRPS1 C Zinc finger transcription factor TRPS1 604386 Ch, REc Trichorhinophalangeal syndrome, type I, 190350 (3); Trichorhinophalangeal syndrome, type III, 190351 (3)
8.492 12 9 91 8q24.21 MYC C Avian myelocytomatosis viral (v-myc) oncogene homolog 190080 REa, A cen-5'-3'-ter Burkitt lymphoma, 113970 (3) 15(Myc)
8.493 11 4 93 8q24.3 ZNF34, KOX32 P Zinc finger protein-34 (KOX32) 194526 REa, A, D
8.494 4 15 08 8q24.13 ATAD2, ANCCA P ATPase family, AAA domain-containing, member 2 611941 R, REc
8.495 5 24 13 8q24.13 DERL1, DER1 P DER1-like domain family, member 1 608813 REc
8.496 9 9 08 8q24.13 FBXO32, MAFBX, FLJ32424, ATROGIN1 P F-box only protein 32 606604 REc 15(Fbxo32)
8.497 12 1 11 8q24.13 HAS2AS1, HASNT P HAS2 antisense RNA 1 614353 REn
8.498 12 15 16 8q24.13 NSMCE2, NSE2, MMS21 P Non-SMC element 2, S. cerevisiae, homolog of 617246 REc Seckel syndrome 10, 617253 (3)
8.499 10 28 15 8q24.13 TMEM65 P Transmembrane protein 65 616609 REc 2(Tmem65)
8.500 6 11 12 8q24.13 TRIB1, TRB1, SKIP1, C8FW P Tribbles, Drosophila, homolog of, 1 609461 REc
8.501 5 26 13 8q24.13 TRMT12, TRM12 P tRNA methyltransferase 12, S. cerevisiae, homolog of 611244 R, REc
8.502 4 20 17 8q24.13 WSHC5, KIAA0196, SPG8, RTSC1 C WASH complex, subunit 5 610657 Fd, REc, R Spastic paraplegia 8, autosomal dominant, 603563 (3); Ritscher-Schinzel syndrome 1, 220210 (3)
8.503 12 17 12 8q24.13-q24.21 PPKP1B P Keratoderma, palmoplantar, punctate type IB 614936 Fd between D8S1804 and D8S1720 Keratoderma, palmoplantar, punctate type IB (2)
8.504 12 22 08 8q24.13-q24.22 ARHI1 P Age-related hearing impairment 1 612448 Fd between rs3765212 and rs4601326 {Age-related hearing impairment 1} (2)
8.505 9 19 94 8q24.22 ADCY8, ADCY3 P Adenylyl cyclase-8, brain 103070 A
8.506 4 19 06 8q24.2-q24.3 COL22A1 P Collagen, type XXII, alpha-1 polypeptide 610026 REc 15(Col22a1)
8.507 2 18 08 8q24.22 EFR3A, KIAA0143 P EFR3, S. cerevisiae, homolog of, A 611798 Psh, REc, H 15(Efr3a)
8.508 2 28 07 8q24.23 KHDRBS3, TSTAR, SALP, SLM2, ETOILE C KH domain-containing, RNA-binding, signal transduction-associated protein 3 610421 REc 15(Khdrbs3)
8.509 4 8 98 8q24.3 PSCA P Prostate stem cell antigen 602470 A
8.510 8 4 97 8q24.3 GPR20 P G protein-coupled receptor-20 601908 A
8.511 9 11 98 8q24.22 SLA C Src-like-adaptor 601099 REa, REn in intron of TG 15(Slap)
8.512 10 11 17 8q24.21 CASC8, LINC00860, CARLO1 P Cancer susceptibility candidate 8, noncoding 617701 REc
8.513 10 11 17 8q24.21 CASC11, LINC00990, CARLO7 P Cancer susceptibility candidate 11, noncoding 617704 REc
8.514 10 11 17 8q24.21 CASC19, LINC01245, CARLO6 P Cancer susceptibility candidate 19, noncoding 617703 REc
8.515 10 11 17 8q24.21 CASC21, LINC01244, CARLO2 P Cancer susceptibility candidate 21, noncoding 617702 REc
8.516 10 1 17 8q24.21 CCAT1, CARLO5 P Colon cancer-associated transcript 1, noncoding 617705 REc
8.517 9 29 09 8q24.22 TG, AITD3, TDH3 C Thyroglobulin 188450 A, REa, REb distal to MYC Thyroid dyshormonogenesis 3, 274700 (3); {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3) 15(Tgn; cog)
8.518 9 30 09 8q24.21 CCD26, RAM P Coiled-coil domain-containing protein 26 613040 REc
8.519 9 24 08 8q24.21 FAM84B, BCMP101 P Family with sequence similarity 84, member B 609483 REc
8.520 4 17 13 8q24.21 GLM7 P Glioma susceptibility 7 613032 Fd associated with rs55705857 {Glioma susceptibility 7} (2)
8.521 9 21 17 8q24.21 PCAT2, PCA2, CARLO4 P Prostate cancer-associated transcript 2, noncoding 617678 REc
8.522 4 29 14 8q24.21 POU5F1B, POU5F1P1, OCT4PG1 P POU domain, class 5, transcription factor 1B 615739 REc
8.523 11 29 12 8q24.22 LRRC6, LRTP, CILD19 P Leucine-rich repeat-containing protein 6 614930 REc Ciliary dyskinesia, primary, 19, 614935 (3)
8.524 7 17 14 8q24.3 ARHGAP39, VILSE, KIAA1688 C RHO GTPase-activating protein 39 615880 REc, R
8.525 6 26 16 8q24.3 C8orf17, MOST1 P Chromosome 8 open reading frame 17 616992 REc
8.526 11 18 15 8q24.3 CYHR1, KIAA0496 P Cysteine- and histidine-rich protein 1 616635 REc
8.527 6 9 08 8q24.3 COMMD5, HCARG P COMM domain-containing protein 5 608216 REc
8.528 10 15 13 8q24.3 CYC1, MC3DN6 C Cytochrome c1 123980 REa, A Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)
8.529 5 30 17 8q24.3 DENND3, KIAA0870 P DENN domain-containing protein 3 617503 REc
8.530 6 26 14 8q24.3 DGAT1, ARGP1, DIAR7 P Diacylglycerol O-acyltransferase 1 604900 A, H, REc mutation identified in 1 DIAR7 family ?Diarrhea 7, 615863 (3) 15(Dgat)
8.531 9 18 08 8q24.3 EEF1D, EF1D P Eukaryotic translation elongation factor 1, delta 130592 REc
8.532 8 18 14 8q24.3 EPPK1 P Epiplakin 1 607553 REc
8.533 6 1 12 8q24.3 EXOSC4, RRP41 P Exosome component 4 606491 REc
8.534 8 4 17 8q24.3 FAM83H, AI3A P Family with sequence similarity 83, member H 611927 Fd, REc Amelogenesis imperfecta, type IIIA, 130900 (3)
8.535 3 30 99 8q24.3 FAST1 P Forkhead activin signal transducer 1, Xenopus, homolog of 603621 A
8.536 6 13 12 8q24.3 FBXL6, FBL6, FBL6A P F-box and leucine-rich repeat protein 6 609076 R, REc 15(FBXL6)
8.537 9 29 96 8q24.3 GLI4, HKR4 C GLI-Kruppel family member GLI4 (oncogene HKR4) 165280 REa, A
8.538 6 19 98 8q24.3 GML P Glycosylphosphatidylinositol-anchored molecule-like protein 602370 A
8.539 8 22 14 8q24.3 GPIHBP1, HYPL1D P Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 612757 REc Hyperlipoproteinemia, type 1D, 615947 (3)
8.540 7 22 16 8q24.3 GSDMD, GSDMDC1, DFNA5L P Gasdermin D 617042 REc
8.541 5 19 16 8q24.3 KIFC2 P Kinesin family member C2 615216 REc
8.542 7 11 12 8q24.3 SLC52A2, GPR172A, GPCR41, PAR1, FLJ11856, BVVLS2 P Solute carrier family 52, riboflavin transporter, member 2 607882 REc Brown-Vialetto-Van Laere syndrome 2, 614707 (3)
8.543 6 17 99 8q24.3 GPT, GPT1, AAT1 C Glutamic-pyruvate transaminase (alanine aminotransferase) 138200 S, EM, H, Fd, D, A 15(Gpt1)
8.544 3 14 96 8q24.3 GRINA, NMDARA1 C Glutamate receptor, ionotropic, N-methyl 138251 REa, A, R
8.545 9 9 08 8q24.3 HSF1 P Heat-shock transcription factor 1 140580 R, REc
8.546 1 7 99 8q24.3 LY6E, RIGE, SCA2 C Lymphocyte antigen 6 complex, locus E (retinoic acid induced gene E) 601384 A 15(Ly6e)
8.547 8 17 99 8q24.3 LY6H P Lymphocyte antigen 6 complex, locus H 603625 A
8.548 3 14 13 8q24.3 LY6K P Lymphocyte antigen 6 complex, locus K 615093 REc
8.549 1 28 11 8q24.3 MAF1 P Maf1, S. cerevisiae, homolog of 610210 R, REc
8.550 1 31 11 8q24.3 MIR661, MIRN661 P Micro RNA 661 613716 REc
8.551 3 17 08 8q24.3 NAPRT1 P Nicotinate phosphoribosyltransferase domain-containing 1 611552 REc
8.552 10 2 03 8q24.22 NDRG1, HMSNL, CMT4D P N-myc downstream-regulated gene 1 605262 REc, Fd, LD Charcot-Marie-Tooth disease, type 4D, 601455 (3)
8.553 9 7 00 8q24.3 NFKBIL2, IKBR P Nuclear factor of kappa light chain gene enhancer in B cells inhibitor-like 2 604546 Psh, A
8.554 12 27 13 8q24.3 NRBP2 P Nuclear receptor-binding protein 2 615563 REc
8.555 7 13 09 8q24.3 OFC12 P Orofacial cleft 12 612858 Fd associated with rs987525 Orofacial cleft 12 (2)
8.556 3 30 12 8q24.3 OPLAH, OPLAHD P 5-oxoprolinase (ATP-hydrolyzing) 614243 REc 5-oxoprolinase deficiency, 260005 (3)
8.557 12 6 01 8q24.3 PTP4A3, PRL3 P Protein-tyrosine phosphatase, type 4A, 3 606449 R
8.558 1 7 14 8q24.3 PUF60, FIR, SIAHBP1, VRJS P Poly-U-binding splicing factor, 60kD 604819 REc Verheij syndrome, 615583 (3)
8.559 6 3 15 8q24.3 PYCRL, PYCR3 P Pyrroline-5-carboxylate reductase-like 616408 REc
8.560 5 22 14 8q24.3 RECQL4, RTS, RECQ4 P DNA helicase, RecQ-like 4 603780 Ch, A Rothmund-Thomson syndrome, 268400 (3); RAPADILINO syndrome, 266280 (3); Baller-Gerold syndrome, 218600 (3)
8.561 8 18 14 8q24.3 RHPN1, ODF5 P Rhophilin 1 601031 REc
8.562 10 16 13 8q24.3 SCRIB, SCRB1, KIAA0147 P Scribble, Drosophila, homolog of 607733 R, REc
8.563 4 25 08 8q24.3 SCXA, SCX P Scleraxis, mouse, homolog of, A 609067 REc
8.564 3 11 08 8q24.3 SHARPIN, SIPL1 P SHANK-associated RH domain interactor 611885 REc
8.565 6 24 02 8q24.3 SLC39A4, ZIP4 C Solute carrier family 36 (zinc transporter), member 4 607059 REc, Fd Acrodermatitis enteropathica, 201100 (3)
8.566 10 15 01 8q24.3 TOP1MT P Topoisomerase I, mitochondrial 606387 A
8.567 12 30 09 8q24.3 TRAPPC9, NIBP, KIAA1882, MRT13 P Trafficking protein particle complex 9 611966 REc Mental retardation, autosomal recessive 13, 613192 (3)
8.568 11 20 98 8q24.3 TSTA3 P Tissue-specific transplantation antigen-3 137020 A
8.569 4 23 08 8q24.3 VPS28 P Vacuolar protein sorting 28, yeast, homolog of 611952 R, REc
8.570 8 23 01 8q24.3 SLURP1, MDM C Secreted LY6/uPAR-related protein 1 606119 Fd, R Meleda disease, 248300 (3)
8.571 11 19 11 Chr.8 AIS3, VAMAS4 P Autoimmune disease, susceptibility to, 3 608392 Fd {Autoimmune disease, susceptibility to, 3} (2)
8.572 5 28 99 Chr.8 IFNB3 I Interferon, beta-3, fibroblast 147860 S, REa previously assigned to 2p23-qter
8.573 5 22 03 8q21.11 KCNB2, KV2.2 P Potassium channel, voltage-gated, shab-related subfamily, member 2 607738 R
8.574 3 17 03 8q24.3 LYNX1 P Lynx1, mouse, homolog of 606110 R
8.575 1 30 01 8q11.23 LYPLA1 P Lysophospholipase I 605599 R
8.576 8 27 01 8q21.13 PAG P Phosphoprotein associated with glycosphingolipid-enriched microdomains 605767 R
8.577 6 26 01 8q21.13 PKIA P Protein kinase, cAMP-dependent catalytic, inhibitor alpha 606059 R
8.578 5 22 03 8p11.22 PLEKHA2, TAPP2 P Pleckstrin homology domain-containing protein, family A, member 2 607773 R
8.579 1 22 93 8p21.3 PPP3CC, CALNA3 P Protein phosphatase-3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma) 114107 REa
8.580 3 10 03 8q21.11 RDH10 P Retinol dehydrogenase 10 607599 R
8.581 7 13 92 8q22.2 RPL30 P Ribosomal protein L30 180467 Psh
8.582 6 21 01 8q24.3 SCRT1 P Scratch, mouse, homolog of 605858 REc
8.583 2 21 03 8q21.11 TCEB1 P Transcription elongation factor B, polypeptide 1, 15kD (elongin C) 600788 R
8.584 3 29 01 8p12 TEX15 P Testis-expressed gene 15 605795 R
8.585 8 27 02 8p23.1 TNKS P TRF1-interacting, ankyrin-related ADP-ribose polymerase (tankyrase) 603303 R 8(Tnks)
8.586 9 20 00 8q13.3 TRAM P Translocating chain-associating membrane protein 605190 R
8.587 9 14 89 Chr.8 ZNF1 P Zinc finger protein-1 194490 REa 8(Zfp2)
9.1 10 23 87 9p24.1 RLN1 P Relaxin, H1 179730 REa 19(Rln1)
9.2 10 23 87 9p24.1 RLN2 P Relaxin, H2 179740 REa
9.3 8 21 07 9p24.3 CBWD1 P Cobalamin synthetase W domain-containing protein 1 611078 REc 19(Cbwd)
9.4 8 29 11 9p24.3 DEL9p24.3, C9DELp24.3, SRXY4 C Chromosome 9p24.3 deletion syndrome 154230 A, Ch 46XY sex reversal 4 (4)
9.5 6 23 99 9p24.3 DMRT1, DMT1 C Double sex and mab-3-related transcription factor-1 602424 A, Ch
9.6 5 12 00 9p24.3 DMRT2 P Double sex and mab-3-related transcription factor-2 604935 A
9.7 8 3 12 9p24.3 DMRT3, DMRTA3 P Doublesex-and mab3-related transcription factor 3 614754 REc
9.8 5 4 12 9p24.3 KANK1, KANK, ANKRD15, KIAA0172, CPSQ2 C KN motif- and ankyrin repeat domain-containing protein 1 607704 REc Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
9.9 4 20 17 9p24.3 WASHC1, WASH1 P WASH complex, subunit 1 613632 REc pseudogenes on 1p, 15q, 16p, Xq/Yq
9.10 5 19 16 9p24.2 GLIS3, ZNF515, NDH P GLIS family zinc finger protein 3 610192 REc Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3) 19(Glis3)
9.11 8 8 08 9p24-p23 PTPRD, PTPD, HPTP C Protein tyrosine phosphatase, receptor type, delta polypeptide 601598 H, REc 4(Ptprd)
9.12 3 31 10 9p24.2 KCNV2, KV11.1, RCD3B P Potassium channel, voltage-gated, subfamily V, member 2 607604 REc Retinal cone dystrophy 3B, 610356 (3)
9.13 3 23 06 9p24.2 KIAA0020, HLA-HA8 P Minor histocompatibility antigen HA-8 609960 R, REc
9.14 3 19 01 9p24.1 PDCD1L2, PDL2 P Programmed cell death 1 ligand 2 605723 REc 19(Pdcd1l2)
9.15 5 25 13 9p24.2 RFX3 P Regulatory factor X, 3 601337 REc
9.16 7 1 13 9p24.1 AK3, AK3L1 P Adenylate kinase 3 609290 REc, Psh 4(Ak3)
9.17 8 19 13 9p24.1 CDC37L1, HARC, FLJ20639 P CDC37-like 1 610346 REc
9.18 8 19 13 9p24.1 CIP150, KIAA1432 P Connexin 43-interacting protein, 150kD 610354 R, REc
9.19 4 1 08 9p24.1 IL33, C9orf26, NFEHEV C Interleukin 33 608678 REc, H 19(Il33)
9.20 7 20 12 9p24.1 KDM4C, JMJD2C, GASC1, KIAA0780 C Lysine-specific demethylase 4C 605469 R, REc
9.21 1 30 01 9p24.1 MLANA, MART1 P Melan A 605513 R
9.22 3 23 09 9p24.1 MIR101-2, MIRN101-2 P Micro RNA 101-2 612512 REc another locus, MIRN101-1, on 1p31
9.23 10 1 95 9p23-p22 NFIB C Nuclear factor I/B 600728 A, Ch 4(Nfib)
9.24 10 25 17 9p24.1 PLPP6, PPAPDC2 P PPAP2 domain-containing protein 2 611666 R, REc Phospholipid phosphatase 6, 611666 (3)
9.25 5 26 13 9p24.1 RCL1, RPCL1, RNAC P RNA terminal phosphate cyclase-like 1 611405 R, REc
9.26 7 11 17 9p24.1 TPD52L3 P Tumor protein D52-like 3 617567 REc
9.27 12 22 16 9p24.1 TMEM261, DMAC1, C9orf123 P Transmembrane protein 261 617261 REc
9.28 5 6 13 9p24.1 UHRF2, NIRF P Ubiquitin-like protein containing PDH and RING finger domains 2, E3 ubiquitin protein ligase 615211 REc
9.29 3 4 10 9p24.1-p22.1 FECD7, FCD4 P Corneal dystrophy, Fuchs endothelial, 7 613271 Fd max lod at D9S256 Corneal dystrophy, Fuchs endothelial, 7 (2)
9.30 11 13 17 9p24.1 CD274, PDCD1LG1, B7H1 C CD274 molecule 605402 REc
9.31 8 4 15 9p24.3 DOCK8 P Dedicator of cytokinesis 8 611432 REc Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
9.32 4 23 09 9p24.1 ERMP1, KIAA1815, FXNA P Endoplasmic reticulum metallopeptidase 1 611156 R, REc
9.33 5 24 13 9p24.2 SLC1A1, EAAC1, SCZD18, DCBXA P Solute carrier family 1, member 1 (high-affinity glutamate transporter; excitatory amino acid carrier 1) 133550 REa, A mutation identified in 1 SCZD18 family {?Schizophrenia susceptibility 18}, 615232 (3); Dicarboxylic aminoaciduria, 222730 (3)
9.34 11 6 95 9p24.1 INSL4 P Insulin-like 4, placenta 600910 A
9.35 11 1 01 9p24.1 INSL6 P Insulin-like 6 606414 R 19(Insl6)
9.36 8 23 17 9p24.1 JAK2, THCYT3 P Janus kinase 2 (a protein-tyrosine kinase) 147796 A Polycythemia vera, somatic, 263300 (3); Thrombocythemia 3, 614521 (3); Myelofibrosis, somatic, 254450 (3); Erythrocytosis, somatic, 133100 (3); Leukemia, acute myeloid, somatic, 601626 (3); {Budd-Chiari syndrome, somatic}, 600880 (3) 19(Jak2)
9.37 11 30 15 9p24 MRD2 P Mental retardation, autosomal dominant 2 614113 Ch 2 patients reported with genomic deletion or rearrangement including disruption of DOCK8 Mental retardation, autosomal dominant 2 (4)
9.38 2 21 10 9p24.2 VLDLR, CAMRQ1 C Very low density lipoprotein receptor 192977 A, Psh Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) 19(Vldlr)
9.39 5 3 13 9p23 MPDZ, MUPP1, HYC2 C Multiple PDZ domain protein 603785 R, Psh Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)
9.40 10 30 08 9p24-p22 RLS3 C Restless legs syndrome, susceptibility to, 3 610438 Fd associated with rs4626664 and rs1975197 {Restless legs syndrome 3} (2)
9.41 5 4 12 9p24.3 SMARCA2, SNF2L2, NCBRS P SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 600014 A Nicolaides-Baraitser syndrome, 601358 (3) 19(Snf2l2)
9.42 12 30 14 9p23 LURAP1L, LRAP35B P Leucine-rich adaptor protein 1-like 616130 REc
9.43 2 25 16 9p23 TYRP1, CAS2, GP75, SHEP11 C Tyrosinase-related protein 1 115501 Psh, REa, A, Fd Albinism, oculocutaneous, type III, 203290 (3); [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3) 4(b;trp1)
9.44 9 6 11 9p23-p13.3 MRT16 P Mental retardation, autosomal recessive 16 614208 Fd between rs10738277 and rs12376565 Mental retardation, autosomal recessive 16 (2)
9.45 9 5 01 9p23-p11 FRDA2 P Friedreich ataxia 2 601992 Fd Friedreich ataxia 2 (2)
9.46 1 7 11 9p23-p21.2 DFNB83 P Deafness, autosomal recessive 83 613685 Fd between rs4742645 and rs1471364 Deafness, autosomal recessive 83 (2)
9.47 2 20 12 9p22.3 FREM1, C9orf154, BNAR, MOTA, TRIGNO2 P FRAS1-related extracellular matrix protein 1 608944 REc, R Bifid nose with or without anorectal and renal anomalies, 608980 (3); Manitoba oculotrichoanal syndrome, 248450 (3); Trigonocephaly 2, 614485 (3)
9.48 10 2 12 9p22.3 SNAPC3, SNAP50 P Small nuclear RNA-activating protein complex, polypeptide 3 602348 REc
9.49 10 5 10 9p22.3 TTC39B P Tetratricopeptide repeat domain 39B 613574 REc
9.50 4 27 12 9p22.3 ZDHHC21, DHHC21 P Zinc finger DHHC domain-containing protein 21 614605 REc
9.51 3 4 08 9p22.2 CNTLN, C9orf101, C9orf39 P Centlein 611870 REc
9.52 8 3 06 9p22.3 PSIP1, LEDGF P PC4- and SFRS1-interacting protein 1 603620 A
9.53 12 15 10 9p22.1 ACER2 P Alkaline ceramidase 2 613492 REc
9.54 7 12 06 9p22.1 AD11 P Alzheimer disease 11 609790 Fd between D9S157 and D9S259 Alzheimer disease-11 (2)
9.55 6 7 04 9p22.3-p22.2 BNC2 P Basonuclin 2 608669 REc 4(Bnc2)
9.56 9 7 10 9p22.1 HAUS6, DGT6, FAM29A P HAUS, augmin-like complex, subunit 6 613433 REc
9.57 1 21 01 9p22.1 PLIN2 P Perilipin 2 103195 REc 4(Plin2)
9.58 8 29 08 9p22.1 RRAGA, RAGA, FIP1 P Ras-related GTP-binding protein A 612194 R, REc
9.59 4 10 15 9p22.1 SAXO1, FAM154A P Stabilizer of axonemal microtubules 1 616292 REc
9.60 2 25 14 9p22.1 SCARNA8 P Small Cajal body-specific RNA 8 615646 REc
9.61 12 24 08 9p13.3 UBE2R2, UBC3B P Ubiquitin-conjugating enzyme E2R 2 612506 REc
9.62 5 27 09 9p22.2-p22.1 ADAMTSL1 P ADAMTS-like protein 1 609198 REc, H 4(Adamtsl1)
9.63 6 14 99 9p22.3 CER1 C Cerebrus 1, Xenopus, homolog of 603777 R, H 4(Cer1)
9.64 5 4 01 9p24.1 GLDC, HYGN1, GCSP, GCE, NKH C Glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P) 238300 Ch, A Glycine encephalopathy, 605899 (3) 19(Gldc)
9.65 12 14 95 9p21.3 IFNA1, IFNA@ C Interferon, alpha-1 147660 REa, A, RE very close to IFF by Fd, LD; 15-30 genes Interferon, alpha, deficiency (1) 4(Ifa)
9.66 12 14 95 9p21.3 IFNA2 P Interferon, alpha-2 147562 D
9.67 12 14 95 9p21.3 IFNA4 P Interferon, alpha-4 147564 D
9.68 12 14 95 9p21.3 IFNA5 P Interferon, alpha-5 147565 D
9.69 12 14 95 9p21.3 IFNA6 P Interferon, alpha-6 147566 D
9.70 12 14 95 9p21.3 IFNA7 P Interferon, alpha-7 147567 D
9.71 12 15 95 9p21.3 IFNA8 P Interferon, alpha-8 147568 D
9.72 12 15 95 9p21.3 IFNA10 P Interferon, alpha-10 147577 D
9.73 12 15 95 9p21.3 IFNA13 P Interferon, alpha-13 147578 D 4(Ifna13)
9.74 12 15 95 9p21.3 IFNA14 P Interferon, alpha-14 147579 D
9.75 12 15 95 9p21.3 IFNA16 P Interferon, alpha-16 147580 D
9.76 12 15 95 9p21.3 IFNA17 P Interferon, alpha-17 147583 D
9.77 12 15 95 9p21.3 IFNA21 P Interferon, alpha-21 147584 D
9.78 7 13 93 9p21.3 MLLT3, AF9 P Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 3 159558 Ch fuses with ALL1
9.79 5 4 00 9p22.2 SH3GL2, SH3P4 P SH3 domain, GRB2-like, 2 604465 REa, A
9.80 1 20 06 9p22.1-p21.3 SLC24A2, NCKX2 P Solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 609838 REc
9.81 1 6 11 9p22-p21 DFNA47, DFNB83 P Deafness, autosomal dominant 47 608652 Fd between D9S268 and D9S942; possibly allelic to DFNB83 Deafness, autosomal dominant 47 (2)
9.82 11 7 89 9p22-p21 LALL P Lymphomatous acute lymphoblastic leukemia 247640 Ch Leukemia, acute lymphoblastic (2)
9.83 12 20 05 9p13.3 UBAP1, UBAP P Ubiquitin-associated protein 1 609787 REc
9.84 12 23 05 9p21.2-p21.1 LRRN6C, LINGO2, LERN3 P Leucine-rich repeat protein, neuronal, 6C 609793 REc
9.85 2 20 11 9p21.1 ACO1, IREB1 C Aconitase, soluble (iron-responsive element-binding protein-1) 100880 S, REc 4(Aco1)
9.86 8 31 17 9p21.2 EMICER1 P EQTN, MOB3B, IFNK, and C9orf72 enhancer RNA I, noncoding 617651 REc
9.87 8 31 17 9p21.2 EQTN, AFAF, SPACA8, C9orf11 P Equatorin 617653 REc
9.88 7 23 13 9p21.2 IFNK P Interferon, kappa 615326 R
9.89 9 22 16 9p21.2 IFT74, CCDC2, CMG1, BBS20 P Intraflagellar transport 74, Chlamydomonas, homolog of 608040 REc mutation identified in 1 BBS20 patient ?Bardet-Biedl syndrome 20, 617119 (3)
9.90 8 30 17 9p21.2 MOB3B, MOB1D, MOBKL2B, C9orf35 C MOB kinase activator 3B 617652 REn
9.91 6 27 17 9p21.2 PLAA, PLAP, NDMSBA P Phospholipase A2-activating protein 603873 REc Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3)
9.92 4 10 15 9p21.1 DDX58, RIGI, SGMRT2 P DEAD box polypeptide 58 609631 REc Singleton-Merten syndrome 2, 616298 (3)
9.93 12 30 14 9p21.1 MIR873 P Micro RNA 873 616137 REc
9.94 12 15 17 9p21.1 SMU1 P DNA replication regulator and spliceosomal factor SMU1 617811 REc
9.95 3 13 08 9p21 AAA3 P Aneurysm, familial abdominal 3 611891 Fd associated with rs10757278 {Aneurysm, familial abdominal 3} (2)
9.96 3 13 08 9p21 ANIB6 P Aneurysm, intracranial berry, 6 611892 Fd associated with rs10757278 {Aneurysm, intracranial berry, 6} (2)
9.97 10 6 09 9p21 BCC5 P Basal cell carcinoma, susceptibility to, 5 613062 Fd associated with rs2151280 {Basal cell carcinoma, susceptibility to, 5} (2)
9.98 7 7 15 9p21.2 C9orf72, FTDALS1, FTDALS, ALSFTD P Chromosome 9 open reading frame 72 614260 REc Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)
9.99 3 3 03 9p21.3 CDKN2A, MTS1, P16, MLM, CMM2 C Cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4) 600160 RE, D, Fd {Melanoma, cutaneous malignant, 2}, 155601 (3); Melanoma and neural system tumor syndrome, 155755 (3); Pancreatic cancer/melanoma syndrome, 606719 (3); Orolaryngeal cancer, multiple, (3) 4(Cdkn2a)
9.100 7 10 95 9p21.3 CDKN2B, MTS2, P15, INK4B P Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 600431 A tandem with MTS1
9.101 12 21 09 9p21.3 CDKN2BAS, ANRIL P CDKN2B antisense RNA 613149 REc
9.102 2 23 08 9p21 CHDS8 P Coronary heart disease, susceptibility to, 8 611139 Fd strongest linkage with dbSNP rs1333049 {Coronary heart disease, susceptibility to, 8} (2)
9.103 2 24 97 9p21.3 ELAVL2, HELN1, HUB C Embryonic lethal, abnormal vision, Drosophila, homolog of, like-2 (Hu antigen B) 601673 Psh, A, H 4(Hub)
9.104 4 10 90 9p21.3 IFNB1 C Interferon, beta-1, fibroblast 147640 REa, A, Fd, LD, RE distal to IFL; ?9p23-p22; IFF duplicate in some 4(Ifb)
9.105 5 6 13 9p21.3 IFNE, INFE1, IFNT1 P Interferon, epsilon 615223 REc
9.106 5 6 97 9p21.3 IFNW1 P Interferon, omega-1 147553 D pseudogene IFNWP2; interspersed with IFNA
9.107 6 16 08 9p21 MFT2, TEM P Trichoepithelioma, multiple familial, 2 612099 Fd max lod at D9S171 Trichoepithelioma, multiple familial, 2 (2)
9.108 9 10 12 9p21.3 DMRTA1, DMRT4 P Doublesex- and MAB3-related transcription factor A1 614803 REc 4(Dmrta1))
9.109 5 4 12 9p21.3 FOCAD, KIAA1797 P Focadhesin 614606 REc
9.110 4 13 10 9p21.3 GLM5 P Glioma susceptibility 5 613030 Fd associated with rs4977756 {Glioma susceptibility 5} (2)
9.111 5 6 13 9p21.3 KLHL9, KIAA1354 C Kelch-like 9 611201 REc 4(Klhl9)
9.112 3 23 09 9p21.3 MIR31, MIRN31 P Micro RNA 31 612155 REc
9.113 6 2 15 9p21.3 MIR31HG, LOC554202 P Micro RNA 31 host gene, noncoding 616356 REc
9.114 8 18 14 9p21.3 PTPLAD2, HACD4 P Protein tyrosine phosphatase-like A domain-containing protein 2 615941 REc
9.115 5 4 12 9p21.3 MTAP, DMSMFH C Methylthioadenosine phosphorylase 156540 S, D, Fd Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
9.116 1 6 93 9p22.1 RPS6 C Ribosomal protein S6 180460 Psh, A
9.117 12 23 16 9p21.2 TEK, TIE2, VMCM, GLC3E C TEK tyrosine kinase, endothelial 600221 A, D, REc Venous malformations, multiple cutaneous and mucosal, 600195 (3); Glaucoma 3, primary congenital, E, 617272 (3) 4(tek)
9.118 11 13 07 9p21.1 TOPORS, P53BP3, LUN, RP31 C Topoisomerase I-binding arginine/serine-rich protein 609507 Fd, A, REc Retinitis pigmentosa 31, 609923 (3)
9.119 10 30 06 9p21.2 TUSC1, TSG9 P Tumor suppressor candidate 1 610529 REc 4(Tusc1)
9.120 8 26 15 9p13.3 NPR2, ANPRB, AMDM, ECDM, SNSK P Natiuretic peptide receptor 2 108961 REa, A, Fd Acromesomelic dysplasia, Maroteaux type, 602875 (3); Epiphyseal chondrodysplasia, Miura type, 615923 (3); Short stature with nonspecific skeletal abnormalities, 616255 (3)
9.121 10 17 05 9p13.3 RMRP, RMRPR, CHH C Mitochondrial RNA-processing endoribonuclease 157660 REa, A, Fd, LD, REc Cartilage-hair hypoplasia, 250250 (3); Metaphyseal dysplasia without hypotrichosis, 250460 (3); Anauxetic dysplasia 1, 607095 (3) 4(Rmrpn)
9.122 5 24 13 9p12 CNTNAP3, KIAA1714 P Contactin-associated protein-like 3 610517 REc
9.123 9 9 08 9p13.2 FBXO10, FBX10 P F-box only protein 10 609092 REc 4(Fbxo10)
9.124 9 7 12 9p13.1 IGFBPL1, IGFBPRP4 P Insulin-like growth factor binding protein-like 1 610413 REc, R
9.125 11 27 17 9p13.3 RUSC2, KIAA0375, IPORIN, MRT61 P RUN and SH3 domain-containing 2 611053 REc Mental retardation, autosomal recessive 61, 617773 (3)
9.126 12 4 03 9p13.3 STOML2 C Stomatin-like protein 2 608292 REc, R
9.127 6 27 08 9p13.1-q21.11 OTSC8 P Otosclerosis 8 612096 Fd between D9S970 and D9S1799 Otosclerosis 8 (2)
9.128 6 1 12 9p21.1 APTX, AOA, AOA1 C Aprataxin 606350 REc, Fd Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)
9.129 2 1 11 9p13.3 CA9, MN C Carbonic anhydrase IX 603179 REc previously assigned to 17q21.2
9.130 4 10 14 9p13.3 CCIN P Calicin 603960 REc
9.131 4 17 07 9p13.3 CHMP5 P CHMP family, member 5 610900 REc
9.132 1 13 11 9p13.3 CLTA P Clathrin, light polypeptide (Lca) 118960 REc previously mapped to 12q23-q24
9.133 9 16 16 9p13.3 CREB3, LZIP P cAMP response element-binding protein 3 606443 R, REc
9.134 2 6 13 9p13.3 DNAI1, CILD1, ICS, PCD C Dynein, axonemal, intermediate chain 1 604366 Psh, A, REc Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
9.135 3 23 14 9p13.3 DNAJB5, KIAA1045, HSC40 P DNAJ/HSP40 homolog, subfamily B, member 5 611328 REc
9.136 4 17 13 9p13.3 GBA2, KIAA1605, SPG46 P Glucosidase, beta, acid 2 609471 REc Spastic paraplegia 46, autosomal recessive, 614409 (3)
9.137 2 21 13 9p13.3 GLIPR2, GAPR1, C9orf19 P GLI pathogenesis-related 2 607141 REc
9.138 12 10 15 9p13.3 GNE, GLCNE, IBM2, DMRV, NM C UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase 603824 TM, R, Fd Sialuria, 269921 (3); Nonaka myopathy, 605820 (3)
9.139 2 21 11 9p13.3 KIF24 P Kinesin family member 24 613747 REc
9.140 10 15 13 9p13.3 MSMP, PSMP P Microseminoprotein, prostate-associated 612191 REc 4(Psmp)
9.141 11 11 14 9p13.3 NFX1 P Nuclear transcription factor, X box-binding, protein 1 603255 REc, H 4(Nfx1)
9.142 8 27 15 9p13.3 PTENP1 P Phosphatase and tensin homolog pseudogene 1 (functional) 613531 Psh, REc
9.143 4 29 14 9p13.3 RGP1, KIAA0258 C RGP1 retrograde golgi transport, S. cerevisiae, homolog of 615742 REc, R
9.144 8 28 17 9p13.3 SPAAR, LINC00961 P Small regulatory polypeptide of amino acid response 617627 REc
9.145 4 25 11 9p13.3 SPINK4, PEC60 P Serine protease inhibitor, Kazal-type, 4 613929 REc
9.146 4 8 16 9p13.3 TMEM8B, NGX6, NAG5 C Transmembrane protein 8B 616888 REc
9.147 6 13 12 9p13.2 EXOSC3, RRP40, PCH1B P Exosome component 3 606489 REc Pontocerebellar hypoplasia, type 1B, 614678 (3)
9.148 4 27 16 9p13.2 FRMPD1, FRMD2, KIAA0967 P FERM and PDZ domains-containing protein 1 616919 REc
9.149 1 12 15 9p13.2 TOMM5, TOM5 P Translocase of outer mitochondrial membrane 5, yeast, homolog of 616169 REc
9.150 10 13 15 9p13.2 ZBTB5, KIAA0354 C Zinc finger- and BTB domain-containing protein 5 616590 REc, R
9.151 8 2 13 9p13.3 TPM2, TMSB, AMCD1, DA1, DA2B, NEM4 C Tropomyosin-2, beta 190990 REa, A, R, Fd Arthrogryposis multiplex congenita, distal, type 1, 108120 (3); Arthrogryposis, distal, type 2B, 601680 (3); Nemaline myopathy 4, autosomal dominant, 609285 (3); CAP myopathy 2, 609285 (3)
9.152 4 2 01 9p13.1 ALDH1B1, ALDH5 C Aldehyde dehydrogenase 1 family, member B1 100670 REa, A
9.153 2 28 03 9p13.3 AQP3 C Aquaporin-3 600170 A incorrectly mapped to chr.7 [Blood group GIL], 607457 (3)
9.154 1 5 12 9p13.3 AQP7, GLYCQTL C Aquaporin-7 602974 A [Glycerol quantitative trait locus], 614411 (3)
9.155 7 11 02 9p21.1 B4GALT1, GGTB2, GT1, GTB, CDG2D P Glycoprotein-4-beta-galactosyltransferase-2 (EC 2.4.1.22) 137060 REa, A Congenital disorder of glycosylation, type IId, 607091 (3) 4(Ggtb)
9.156 8 29 02 9p13.3 CCL19, SCYA19, ELC, MIP3B P Chemokine, C-C motif, ligand 19 602227 Psh, REa, R
9.157 8 29 02 9p13.3 CCL21, SCYA21, SLC C Chemokine, C-C motif, ligand 21 602737 REa, R, REc
9.158 8 29 02 9p13.3 CCL27, SCYA27, ILC, CTACK P Chemokine, C-C motif, ligand 27 604833 REc 4(Scya27)
9.159 1 2 96 9p13.3 CNTFR C Ciliary neurotrophic factor receptor 118946 Psh, R, A 4(Cntfr)
9.160 12 4 02 9p13.3 DCTN3, DCTN22 P Dynactin 3 607387 R
9.161 6 10 02 9p13.3 GALT C Galactose-1-phosphate uridyltransferase 606999 S, D, F Galactosemia, 230400 (3) 4(Galt)
9.162 8 25 11 9p13.3 IL11RA, CRSDA C Interleukin-11 receptor, alpha 600939 A Craniosynostosis and dental anomalies, 614188 (3) 4(Il11ra, Etl2)
9.163 1 5 09 9p13.3 NOL6, NRAP P Nucleolar protein 6 611532 REc
9.164 9 3 99 9p13.3 NUDT2, APAH1 P Nudix-type motif 1 (AP4A hydrolase-1) 602852 A
9.165 2 21 14 9p13.2 PAX5, BSAP, ALL3 C Paired box homeotic gene-5 (B-cell lineage specific activator protein) 167414 REa, A, Fd, Ch {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3) 4(Pax5)
9.166 10 11 05 9p13 PEE3 P Preeclampsia/eclampsia 3 609403 Fd Preeclampsia/eclampsia 3 (2)
9.167 8 20 12 9p13.3 PIGO, HPMRS2 P Phosphatidylinositol glycan, class O 614730 REc Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
9.168 10 5 10 9p13.3 PRSS3, TRY3, T9 P Protease, serine, 3 613578 REc
9.169 12 14 10 9q21.2 PRUNE2, BMCC1, KIAA0367 C PRUNE, Drosophila, homolog of, 2 610691 R, REc
9.170 12 24 08 9p13.2 RNF38 P Ring finger protein 38 612488 REc
9.171 10 23 15 9p13.3 SIGMAR1, SRBP, ALS16, DSMA2 P Sigma nonopioid intracellular receptor 1 601978 Psh, A mutation identified in 1 ALS16 family and 1 DSMA2 family ?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3); ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3)
9.172 5 15 97 9p13.3 TESK1 P Testis-specific protein kinase-1 601782 A
9.173 7 13 11 9p13.3 XRCC9, FANCG C X-ray repair, complementing defective, in Chinese hamster, 9 602956 A, Fd, LD Fanconi anemia, complementation group G, 614082 (3)
9.174 9 20 00 9p13.3 RECK, ST15 P Reversion-inducing cysteine-rich protein with kazal motifs (suppressor of tumorigenicity 15) 605227 REc
9.175 2 20 02 9p13.3 SIT P SHP2-interacting transmembrane adaptor protein 604964 A
9.176 3 19 01 9p13.3 SPAG8, SMP1 P Sperm-associated antigen 8 605731 R, A
9.177 12 17 15 9p13.3 VCP, IBMPFD1, ALS14, CMT2Y C Valosin-containing protein 601023 REa, A Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3); Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3); Charcot-Marie-Tooth disease, type 2Y, 616687 (3) 4(Vcp)
9.178 11 13 96 9p13.3 BAG1 P BCL2-associated athanogene 601497 REa, A
9.179 6 8 95 9p13.1 SHB P SHB adaptor protein (a Src homology 2 protein) 600314 Psh, A
9.180 11 6 00 9p12-q12 ACP P Cerebral palsy, ataxic, autosomal recessive 605388 Fd, HZ Cerebral palsy, ataxic, autosomal recessive (2)
9.181 2 18 96 9q21.11 PGM5 P Phosphoglucomutase-5 600981 A 19(Pgm5)
9.182 8 26 15 9q21.11 FOXD4L4, FOXD4L2 P Forkhead box D4-like 4 611085 REc
9.183 3 24 06 9p13.3 HINT2 P Histidine triad nucleotide-binding protein 2 609997 REc
9.184 3 8 95 9p11 MROS L Melkersson-Rosenthal syndrome 155900 Ch ?Melkersson-Rosenthal syndrome (2)
9.185 11 4 91 9p13.3 CD72, LYB2 P CD72 antigen 107272 REa 4(Lyb2)
9.186 1 24 09 9p DEL9p, C9DELp P Chromosome 9p deletion syndrome 158170 Ch Chromosome 9p deletion syndrome (4)
9.187 12 17 07 9p HDLCQ1 P High density lipoprotein cholesterol level QTL 1 606613 Fd [High density lipoprotein cholesterol level QTL 1] (2)
9.188 10 1 95 9p13.3 TLN1 P Talin 1 186745 Psh
9.189 11 22 99 9p13.2 GRHPR, GLXR C Glyoxylate reductase/hydroxypyruvate reductase 604296 R, Fd Hyperoxaluria, primary, type II, 260000 (3)
9.190 6 11 94 9q34.11 FPGS C Folylpolyglutamate synthetase 136510 S, H 2(Fpgs)
9.191 3 15 10 9q HCHGQ2 P Hematocrit/hemoglobin quantitative trait locus 2 609320 Fd [Hematocrit/hemoglobin quantitative trait locus 2] (2)
9.192 4 27 12 9q SPG19 P Spastic paraplegia-19 607152 Fd Spastic paraplegia 19, autosomal dominant (2)
9.193 1 25 91 9q21.13 ANXA1, LPC1 P Annexin A1 (lipocortin I) 151690 REa, A 19(Lpc1)
9.194 1 29 01 9q22.32 BARX1 P BarH-like homeo box gene 1 603260 R
9.195 10 23 87 9q12 DNCM P Cytoplasmic membrane DNA 126330 A in 9qh
9.196 10 13 15 9q12 SPATA31A7, AEP1, FAM75A7, C9orf36 P Spermatogenesis-associated protein 31, subfamily A, member 7 616584 REc
9.197 7 17 14 9q21.11 TJP2, ZO2, PFIC4 P Tight junction protein 2 607709 REc, Fd Hypercholanemia, familial, 607748 (3); Cholestasis, progressive familial intrahepatic 4, 615878 (3)
9.198 1 13 99 9q21.12 BTEB1, BTEB P Basic transcription element-binding protein 1 602902 Psh, A
9.199 8 21 07 9q21.11 CBWD3 P Cobalamin synthetase W domain-containing protein 3 611080 REc
9.200 11 12 96 9q13 CMD1B, CMPD1, FDC C Cardiomyopathy, dilated-1B, autosomal dominant 600884 Fd Cardiomyopathy, dilated 1B (2)
9.201 8 21 07 9q21.11 FOXD4L3 P Forkhead box D4-like 3 611086 REc
9.202 11 30 06 9q21.11 FXN, FRDA, FARR, X25 C Frataxin 606829 Fd Friedreich ataxia, 229300 (3); Friedreich ataxia with retained reflexes, 229300 (3)
9.203 4 10 02 9q21.13 GCNT1 C Glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) 600391 A, Psh, R 13(Gcnt1)
9.204 9 18 98 9q21.11 PIP5K1B, STM7, MSS4 P Phosphatidylinositol-4-phosphate 5-kinase, type I, beta 602745 REn, REc
9.205 2 13 98 9q13-q21 GSM1, GSP P Geniospasm 1 190100 Fd Geniospasm (2)
9.206 2 26 02 9q21.13 TMC1, DFNB7, DFNB11, DFNA36 C Transmembrane channel-like protein 1 606706 Fd, REc Deafness, autosomal recessive 7, 600974 (3); Deafness, autosomal dominant 36, 606705 (3) 19(Tmc1, dn, Bth)
9.207 4 26 01 9q21.13 TMEM2 P Transmembrane protein 2 605835 REc 19(Tmem2)
9.208 5 7 03 9q21.12 X123 P X123 gene 607710 REc
9.209 1 16 07 9q21.13 ZFAND5, ZNF216 P Zinc finger AN1 domain-containing protein 5 604761 REc 19(Znf216)
9.210 7 22 13 9q13-q22 CTRCT26, CAAR P Cataract 26, multiple types 605749 Fd Cataract 26, multiple types (2)
9.211 1 28 88 9q21.13 ALDH1A1 P Aldehyde dehydrogenase-1 family, member A1, soluble 100640 REa, A 19(Ahd2)
9.212 1 3 00 9q21.2 GNA14 P Guanine nucleotide-binding protein, alpha-14 604397 A, REc
9.213 6 11 13 9q21.2 GNAQ, SWS, CMC1 P Guanine nucleotide-binding protein (G protein), q 600998 REa, A pseudogene on 2q Sturge-Weber syndrome, somatic, mosaic, 185300 (3); Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3)
9.214 8 31 16 9q22.31 IARS, GRIDHH P Isoleucine-tRNA synthetase 600709 Psh, A Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3)
9.215 10 15 09 9q21 PVOP2 P Pelvic organ prolapse, susceptibility to, 2 613088 Fd between rs4077632 and rs10868525 {Pelvic organ prolapse, susceptibility to, 2} (2)
9.216 2 29 04 9q21.2 VPS13A, CHAC C Vacuolar protein sorting 13A (chorein) 605978 Fd, LD Choreoacanthocytosis, 200150 (3)
9.217 10 20 92 9q22.33 COL15A1 P Collagen XV, alpha-1 polypeptide 120325 REa, A 4(Col15a1)
9.218 3 22 93 9q21.33 CTSL C Cathepsin L 116880 REa, A, Psh \'like\' sequence on 10q23-q24 13(Ctsl)
9.219 1 10 12 9q21-q22 ETL4, ETOLM P Epilepsy, familial temporal lobe, 4 611631 Fd between GATA152H04 and D9S253 Epilepsy, familial temporal lobe, 4 (2)
9.220 1 12 08 9q21.32 FRMD3, EPB41LO P FERM domain-containing 3 607619 REc
9.221 1 29 01 9q21.2 PCA3, DD3 P Prostate cancer antigen 3 604845 REa
9.222 12 27 16 9q21.11 FAM122A, C9orf42 P Family with sequence similarity 122, member A 617249 REc
9.223 9 16 09 9q21.13 RFK P Riboflavin kinase 613010 REc
9.224 11 1 10 9q21.11 DFNA51, C9DUPq21.11, DUP9q21.11 C Deafness, autosomal dominant 51 (chromosome 9q21.11 duplication syndrome) 613558 Ch 259kb duplication involving TJP2 and FAM189A2 Deafness, autosomal dominant 51 (4)
9.225 10 2 13 9p24.3 FOXD4, FKHL9 P Forkhead box D4 601092 A, REc 19(Foxd4)
9.226 7 20 09 9q21.12 MAMDC2 P MAM domain-containing 2 612879 REc
9.227 12 28 15 9q21.12 MIR204, MIRN204, RDICC P Micro RNA 204 610942 REc mutation identified in 1 RDICC family ?Retinal dystrophy and iris coloboma with or without cataract, 616722 (3)
9.228 9 1 16 9q21.11 PRKACG, BDPLT19 P Protein kinase, cAMP-dependent, catalytic, gamma 176893 REa, A, REc mutation identified in 1 BDPLT19 family ?Bleeding disorder, platelet-type, 19, 616176 (3)
9.229 10 4 05 9q21.12 SMC5L1, SMC5, KIAA0594 P Structural maintenance of chromosomes 5-like 1 609386 R, REc
9.230 1 4 16 9q21.11 ZNF658 P Zinc finger protein 658 616290 REc
9.231 8 20 98 9q21.12 APBA1, X11, D9S411E, MINT1, LIN10 P Amyloid beta A4 precursor protein-binding, family A, member 1 602414 RE, REc
9.232 10 31 08 9q21.12-q21.13 TRPM3, MLSN2, LTRPC3, KIAA1616 P Transient receptor potential cation channel, subfamily M, member 3 608961 REc
9.233 9 24 15 9q21.13 CARNMT1, C9orf41, UPF0586 P Carnosine N-methyltransferase 1 616552 REc
9.234 9 9 13 9q21.13 GDA, CYPIN P Guanine deaminase 139260 REc
9.235 12 27 16 9q21.13 OSTF1, OSF, SH3P2 P Osteoclast-stimulating factor 1 610180 REc
9.236 12 6 16 9q21.2 CEP78, CRDHL P Centrosomal protein, 78kD 617110 REc Cone-rod dystrophy and hearing loss, 617236 (3)
9.237 6 26 00 9q21.32 UBQLN1, DA41 P Ubiquilin 1 (Da41, rat, homolog of) 605046 A
9.238 8 11 17 9q21.33 ISCA1, HBLD2, HISCA, MMDS5 P Iron-sulfur cluster assembly 1, S. cerevisiae, homolog of 611006 REc Multiple mitochondrial dysfunctions syndrome 5, 617613 (3)
9.239 5 1 97 9q21.13 PCSK5 C Proprotein convertase subtilisin/kexin type 5 600488 REa, A, REc ?close to LPC1 on 9q 19(Pcsk5)
9.240 2 3 06 9q21.32 TLE1, ESG1 C Transducin-like enhancer of split 1 (homolog of Drosophila E(spl)) 600189 REa, A, REn, R conflicting assignment to chr.19
9.241 4 15 09 9q22.31 ASPN, PLAP1, OS3 C Asporin 608135 REc {Osteoarthritis susceptibility 3}, 607850 (3); {Lumbar disc degeneration}, 603932 (3)
9.242 3 13 06 9q21.3-q22 FHL1, HPLH1, HLH1 P Hemophagocytic lymphohistiocytosis, familial, 1 267700 Fd Hemophagocytic lymphohistiocytosis, familial, 1 (2)
9.243 3 18 94 9q21.33 GAS1 C Growth arrest-specific gene-1 139185 Psh, A 13(Gas1)
9.244 10 2 14 9q21.2 PSAT1, PSAT, EPIP, PSATD, NLS2 P Phosphoserine aminotransferase 1 610936 REc mutation identified in 1 PSATD family ?Phosphoserine aminotransferase deficiency, 610992 (3); Neu-Laxova syndrome 2, 616038 (3)
9.245 3 23 14 9q21.32 C9orf64 P Chromosome 9 open reading frame 64 611342 REc
9.246 3 23 14 9q21.32 C9orf103 P Chromosome 9 open reading frame 103 611343 REc
9.247 4 2 16 9q21.32 GKAP1, GKAP42 P G kinase-anchoring protein 1 611356 REc
9.248 5 26 13 9q21.32 KIF27 C Kinesin family member 27 611253 REc
9.249 5 24 13 9q21.32 MIR7-1 P Micro RNA 7-1 615239 REc
9.250 2 23 14 9q21.32 RASEF P RAS and EF-hand domains-containing protein 611344 REc
9.251 10 30 08 9q21.32 RMI2, BLAP75, C9orf76 P RecQ-mediated genome instability 1, S. cerevisiae, homolog of 610404 REc
9.252 10 13 15 9q21.32 HNRNPK, HNRPK, AUKS C Heterogeneous nuclear ribonucleoprotein K 600712 REa, A Au-Kline syndrome, 616580 (3)
9.253 4 6 11 9q21.33 AGTPBP1, NNA1, KIAA1035, CCP1 P ATP/GTP-binding protein 1 606830 REc
9.254 8 14 14 9q21.33 GOLM1, GOLPH2, GP73, C9orf155 P Golgi membrane protein 1 606804 REc
9.255 1 22 18 9q21.33 NTRK2, TRKB, OBHD, EIEE58 C Neurotrophic tyrosine kinase, receptor, type 2 600456 REa, A Obesity, hyperphagia, and developmental delay, 613886 (3); Epileptic encephalopathy, early infantile, 58, 617830 (3)
9.256 3 23 15 9q21.33 ZCCHC6, TUT7, KIAA1711 P Zinc finger CCHC domain-containing protein 6 613467 REc
9.257 4 30 15 9q22.33 ALG2, CDGII, CMSTA3, CMS14 C Alg2, S. cerevisiae, homolog of 607905 REc mutation identified in 1 CDGII patient ?Congenital disorder of glycosylation, type Ii, 607906 (3); Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3)
9.258 9 2 08 9q31.1 CSMF C Chondrosarcoma, extraskeletal myxoid, fused to EWS in 600542 Ch, A t(9;17)(q22;q11); t(9;22)(q22;q11-q12) Chondrosarcoma, extraskeletal myxoid, 612237 (3)
9.259 9 2 15 9q22.33 FOXE1, FKHL15, TITF2, TTF2, NMTC4 C Forkhead box E1 (thyroid transcription factor-2) 602617 Psh, REc Bamforth-Lazarus syndrome, 241850 (3); {Thyroid cancer, nonmedullary, 4}, 616534 (3) 4(Titf2)
9.260 10 5 10 9q22.33 GALNT12, CRCS1 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 610290 REc {Colorectal cancer, susceptibility to, 1}, 608812 (3)
9.261 1 23 07 9q22.33 HEMGN, EDAG P Hemogen 610715 A 4(Hemgn)
9.262 11 17 94 9q22.32 HSD17B3, EDH17B3 P Hydroxysteroid (17-beta) dehydrogenase 3 605573 A Pseudohermaphroditism, male, with gynecomastia, 264300 (3)
9.263 8 25 04 9q22 JOAG2 P Glaucoma, primary open angle, juvenile-onset, 2 608695 Fd between D9S1803 and D9S196 Glaucoma, primary open angle, juvenile-onset, 2 (2)
9.264 6 9 98 9q22.31 NINJ1 C Ninjurin 602062 A 13(Ninj1)
9.265 2 2 01 9q22.31 PHF2 C PHD finger protein-2 604351 REn, REc, R
9.266 8 14 00 9q22.31 ROR2, BDB1, BDB, NTRKR2 C Receptor tyrosine kinase-like orphan receptor 2 602337 Fd, R, REc, Ch Brachydactyly, type B1, 113000 (3); Robinow syndrome, autosomal recessive, 268310 (3) 13(Ror2)
9.267 12 3 98 9q21.13 RORB, RZRB P RAR-related orphan receptor B 601972 A 4(Rorb)
9.268 7 3 06 9q22 STQTL8 P Stature quantitative trait locus 8 610114 Fd between GATA81C04M and ATA18A07M {Stature QTL 8} (2)
9.269 1 7 95 9q22.2 SYK P Spleen tyrosine kinase 600085 A 13(Syk)
9.270 4 7 14 9q22.33 TGFBR1, ALK5, AAT5, LDS1, MSSE C Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD) 190181 Psh, A Loeys-Dietz syndrome 1, 609192 (3); {Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3) 4(Tgfbr1)
9.271 9 30 02 9q21.13 TRPM6, CHAK2, HOMG1 C Transient receptor potential cation channel, subfamily M, member 6 607009 REc Hypomagnesemia 1, intestinal, 602014 (3)
9.272 4 8 08 9q31.1 ABCA1, ABC1, HDLDT1, TGD C ATP-binding cassette 1 600046 A, REc Tangier disease, 205400 (3); HDL deficiency, type 2, 604091 (3); {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
9.273 12 27 01 9q22.33 TRIM14, KIAA0129 P Tripartite motif-containing protein 14 606556 REa, R
9.274 10 15 98 9q31.1 ZNF189 P Zinc finger protein-189 603132 A
9.275 4 17 13 9q22.1 CDK20, CCRK, CDCH, P42 P Cyclin-dependent kinase 20 610076 R, REc
9.276 4 6 18 9q22.33 GABBR2, GPR51, EIEE59, NDPLHS C Gamma-aminobutyric acid B receptor 2 607340 R, A {Nicotine dependence, susceptibility to}, 188890 (3); {Nicotine dependence, protection against}, 188890 (3); Epileptic encephalopathy, early infantile, 59, 617904 (3); Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3)
9.277 7 12 13 9q22.1 NXNL2, RDCVF2 P Nucleoredoxin-like protein 2 615299 REc, H 13(Nxnl2)
9.278 11 11 14 9q22.1 SHC3, NSHC, RAI, SHCC P SHC transforming protein 3 605263 R, REc
9.279 9 18 08 9q22.1 S1PR3, EDG3 P Sphingosine-1-phosphate receptor 3 601965 A
9.280 5 25 00 9q22.2 GADD45G, GRP17 C Growth arrest- and DNA damage-inducible gene 45, gamma 604949 A, R
9.281 10 11 00 9q22.31 NFIL3, NFIL3A, E4BP4 P Nuclear factor, interleukin 3-regulated 605327 REc
9.282 3 2 06 9q22.1 SPIN, SPIN1 P Spindlin 609936 REc
9.283 3 5 01 9q22.31 SPTLC1, LBC1, SPT1, HSN1, HSAN P Serine palmitoyltransferase, long-chain base subunit 1 605712 Fd Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3)
9.284 3 31 15 9q22.2 CKS2 P CDC2-associated protein CKS2 116901 A, REc
9.285 7 12 01 9q22.33 CTSL2, CTSV C Cathepsin L2 603308 A
9.286 3 31 15 9q22.2 DIRAS2 P DIRAS family, GTP-binding Ras-like protein 2 607863 R, REc
9.287 11 9 05 9q22.2 SECISBP2, SBP2 C Selenocysteine insertion sequence-binding protein 2 607693 REc Thyroid hormone metabolism, abnormal, 609698 (3)
9.288 9 27 17 9q22.2 SEMA4D, SEMAJ, CD100, COLL4 P Semaphorin 4D 601866 REc
9.289 3 22 07 9q21.32-q21.33 SLC28A3, CNT3 P Solute carrier family (sodium-coupled nucleoside transporter), member 3 608269 A, REc
9.290 11 13 07 9q22.32 FBP1 C Fructose-bisphosphatase 1 611570 A, Fd, REc Fructose-1,6-bisphosphatase deficiency, 229700 (3)
9.291 4 30 09 9q31.1 ALDOB C Aldolase B, fructose-bisphosphatase 612724 REb, REa, A, D, REc Fructose intolerance, hereditary, 229600 (3) 4(Aldo2)
9.292 5 2 03 9q31.1 BAAT C Bile acid coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase) 602938 REc, H Hypercholanemia, familial, 607748 (3) 4(Baat)
9.293 7 12 13 9q22.31 BICD2, KIAA0699, SMALED2 P Bicaudal D, Drosophila, homolog of, 2 609797 R, REc Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 (3)
9.294 10 20 99 9q22.33 CORO2A, WDR2, IR10 P Coronin 2A 602159 REc
9.295 6 14 99 9q22.31 ECM2 P Extracellular matrix protein-2 603479 A
9.296 4 19 11 9q22.32 FANCC, FACC C Fanconi anemia, complementation group C 613899 Fd, REc Fanconi anemia, complementation group C, 227645 (3) 13(Facc)
9.297 5 4 00 9q22.31 OGN, OIF C Osteoglycin 602383 R, A
9.298 3 1 07 9q22.32 PTCH1, NBCCS, BCNS, HPE7 C Patched, Drosophila, homolog of 601309 R, Fd, D Basal cell nevus syndrome, 109400 (3); Basal cell carcinoma, somatic, 605462 (3); Holoprosencephaly 7, 610828 (3) 13(Ptc)
9.299 2 3 05 9q22.32 SLC35D2, HFRC1, SQV7L P Solute carrier family 35, member D2 609182 REc
9.300 3 22 06 9q22.33 TBC1D2, PARIS1 P TBC1 domain family, member 2 609871 REc
9.301 5 20 99 9q22.33 TMOD C Tropomodulin 190930 A, REc 4(Tmod)
9.302 5 26 05 9q22.31 WNK2, PRKWNK2 C WNK lysine deficient protein kinase 2 606249 R, REc
9.303 8 30 07 9q22.33 XPA, XPAC C XPA complementing gene 611153 S, A, M, REc Xeroderma pigmentosum, group A, 278700 (3) 4(Xpa)
9.304 1 12 99 9q22.32 ZNF169 C Zinc finger protein-169 603404 A, REn
9.305 5 9 97 9q22.33 NCBP1 P Nuclear cap binding protein 1, 80kD 600469 REa, REc in 500kb of XPA 4(Ncbp)
9.306 8 9 12 9q22.31 AUH P AU-specific RNA-binding protein (3-methylglutaconyl-CoA hydratase) 600529 R, REc 3-methylglutaconic aciduria, type I, 250950 (3)
9.307 10 08 07 9q22.31 CENPP P Centromeric protein P 611505 R, REc
9.308 9 24 08 9q22.31 FAM120A, C9orf10, KIAA0183 P Family with sequence similarity 120, member A 612265 REc
9.309 6 30 17 9q22.31 FGD3, ZFYVE5 P FYVE, RhoGEF, and Ph domain-containing protein 3 617554 REc
9.310 6 23 15 9q22.31 SUSD3 P SUSHI domain-containing protein 3 616429 REc
9.311 10 25 17 9q22.31 CARD19, BINCARD, C9orf89 P Caspase recruitment domain-containing protein 19 617726 REc
9.312 4 10 14 9q22.32 ERCC6L2, RAD26L, BMFS2 P ERCC6-like 2 615667 REc Bone marrow failure syndrome 2, 615715 (3)
9.313 3 23 09 9q22.32 MIR189, MIRN24-1 P Micro RNA 24-1 609705 REc
9.314 3 23 09 9q22.32 MIR23B, MIRN23B P Micro RNA 23B 610723 REc
9.315 3 23 09 9q22.32 MIR27B, MIRN27B P Micro RNA 27B 610636 REc
9.316 3 23 09 9q22.32 MIRLET7A1, LET7A1, MIRNLET7A1 P Micro RNA Let7a1 605386 REc
9.317 3 23 09 9q22.32 MIRLET7D, LET7D, MIRNLET7D P Micro RNA Let7d 612145 REc
9.318 3 23 09 9q22.32 MIRLET7F1, LET7F1, MIRNLET7F1 P Micro RNA Let7f1 612146 REc
9.319 8 20 08 9q22.31 NOL8, NOP132 P Nucleolar protein 8 611534 REc
9.320 8 19 13 9q22.32 ZNF367, AFF29 C Zinc finger protein 367 610160 REc
9.321 3 13 12 9q22.32-q22.33 CDC14B P Cell division cycle 14, S. cerevisiae, homolog B 603505 R, REc
9.322 9 9 13 9q22.33 ANKS6, PKDR1, NPHP16 P Ankyrin repeat and sterile alpha motif domains-containing protein 6 615370 REc Nephronophthisis 16, 615382 (3)
9.323 8 29 16 9q22.33 NANS, SAS, SEMDCG P N-acetylneuraminic acid synthase (sialic acid synthase) 605202 R, REc Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3)
9.324 7 7 16 9q22.33 SEC61B P Sec61 complex, beta subunit 609214 REc
9.325 7 23 13 9q22.33 TDRD7, KIAA1529, TRAP, CATC4, CTRCT36 C Tudor domain-containing protein 7 611258 REc, R, Ch Cataract 36, 613887 (3)
9.326 1 12 07 9q31.3 ACTL7A C Actin-like 7A 604303 REa, REn, H 4(Actl7a)
9.327 1 12 07 9q31.3 ACTL7B C Actin-like 7B 604304 REc, REn, H 4(Actl7b)
9.328 10 11 17 9q31.1 CAVIN4, MURC P Caveolae-associated protein 4 617714 REc
9.329 11 10 10 9q31.2 FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4 C Fukutin 607440 Fd, LD Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3); Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3); Cardiomyopathy, dilated, 1X, 611615 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3)
9.330 3 20 06 9q31.2 FSD1NL, FSD1L, MIR1, CCDC10 P FSD1 N-terminus-like protein 609829 REc
9.331 2 2 11 9q31 HSCR5 P Hirschsprung disease, susceptibility to, 5 600156 LD {Hirschsprung disease, susceptibility to, 5} (2)
9.332 4 5 01 9q31.3 IKBKAP, IKAP C Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase complex-associated protein 603722 REc, Fd Dysautonomia, familial, 223900 (3)
9.333 8 12 03 9q31.1 INVS, INV, NPHP2, NPH2 C Inversin 243305 REc, A, Fd Nephronophthisis 2, infantile, 602088 (3)
9.334 1 29 01 9q31.2 KLF4, EZF, GKLF P Kruppel-like factor 4 602253 R 4(Ezf)
9.335 12 20 05 9q31 PAND2 P Panic disorder 2 607853 Fd max lod at D9S271 Panic disorder 2 (2)
9.336 12 19 01 9q34.11 SIAT7D, SIAT3C C Sialyltransferase 7D 606378 A, R, REc
9.337 12 8 04 9q31.1 STX17 P Syntaxin 17 604204 REc
9.338 8 28 15 9q31.2 TAL2 P T-cell acute lymphocytic leukemia-2 186855 REa, A, RE, Ch 33kb from breakpoint in t(7;9) Leukemia, T-cell acute lymphocytic, somatic, 613065 (3) 4(Tal2)
9.339 6 14 99 9q31.1 TMEFF1, C9orf2 P Transmembrane protein with EGF-like and 2 follistatin-like domains 1 603421 A, REa
9.340 5 9 95 9q31.3 TXN C Thioredoxin 187700 A, Psh incorrectly assigned to 3 4(Txn)
9.341 8 10 98 9q31.3 UGCG, GCS P UDP-glucose ceramide glucosyltransferase 602874 A 4(Ugcg)
9.342 4 21 10 9q31.3 EPB41L4B, EHM2 P Erythrocyte membrane protein band 4.1-like 4B 610340 REc
9.343 6 29 05 9q31-q32 HNP1 P Hypertensive nephropathy 608026 Fd Hypertensive nephropathy (2)
9.344 11 4 98 9q32 SLC31A1, COPT1, CTR1 P Solute carrier family 31 (copper transporter), member 1 603085 REn
9.345 12 13 00 9q32 SLC13A2, COPT2, CTR2 P Solute carrier family 31 (copper transporter), member 2 603088 REn
9.346 11 22 04 9q31.3 AKAP2, AKAPKL, KIAA0920, PALM2 P A-kinase anchor protein 2 604582 R multiple splice variants
9.347 8 8 14 9q32 PRPF4, PRP4, HPRP4, RP70 P Precursor mRNA-processing factor 4, S. cerevisiae, homolog of 607795 A Retinitis pigmentosa 70, 615922 (3)
9.348 3 5 98 9q32 RGS3 P Regulator of G-protein signaling-3 602189 R
9.349 12 17 07 9q32 SLC46A2, TSCOT P Solute carrier family 46, member 2 608956 H, REc 4(Slc46a2)
9.350 1 19 07 9q31-q34 SPDA2 P Spondyloarthropathy, susceptibility to, 2 183840 Fd max lod at D9S1776 {Spondyloarthropathy, susceptibility to, 2} (2)
9.351 10 16 14 9q33.1 TRIM32, HT2A, LGMD2H, BBS11 C Tripartite-motif-containing protein 32 602290 Fd, REc mutation identified in 1 BBS11 family Muscular dystrophy, limb-girdle, type 2H, 254110 (3); ?Bardet-Biedl syndrome 11, 615988 (3)
9.352 11 30 12 9q31.1 CHDT3 P Congenital heart defects, multiple types, 3 614954 Fd max lod at D9S1690 Congenital heart defects, multiple types, 3 (2)
9.353 3 24 09 9q31.1 CYLC2 P Cylicin 2 604035 REc
9.354 3 24 09 9q31.1 GRIN3A, NR3A P Glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 606650 REc
9.355 3 5 08 9q31.1 MRPL50 P Mitochondrial ribosomal protein L50 611854 REc pseudogenes on 2, 5, and 10
9.356 9 16 12 9q31.1 NIPSNAP3A, TASSC P NIPSNAP, C. elegans, homolog of, 3A 608871 REc
9.357 4 15 11 9q31.1 PPP3R2, PPP3RL, CBLP C Protein phosphatase 3, regulatory subunit B, beta 613821 R, REc
9.358 4 21 14 9q31.1 RNF20, BRE1A P Ring finger protein 20 607699 REc
9.359 12 23 15 9q31.1 TEX10 P Testis-expressed gene 10 616717 REc
9.360 10 7 13 9q31.1 TXNDC4, KIAA0573 C Thioredoxin domain-containing protein 4 609170 R, REc
9.361 1 12 07 9q31.3 CTNNAL1 C Catenin, alpha-like, 1 604785 R, A, REn
9.362 7 20 09 9q31.2 MENAQ3 P Menarche, age at, QTL3 612883 Fd associated with rs2090409 {Menarche, age at, QTL3} (2)
9.363 7 18 14 9q31.2 RAD23B P RAD23 (Saccharomyces cerevisiae) homolog of, B 600062 A, RE, REc previously 3p25.1 4(Rad23b)
9.364 4 24 09 9q31.1-q31.2 SLC44A1, CTL1, CDW92 P Solute carrier family 44, member 1 606105 REc
9.365 2 8 13 9q31.2 TMEM38B, TRICB, OI14 P Transmembrane protein 38B 611236 REc Osteogenesis imperfecta, type XIV, 615066 (3)
9.366 3 18 17 9q31.2 ZNF462, KIAA1803 P Zinc finger protein 462 617371 REc
9.367 9 22 08 9q31.2-q34.2 IS4 P Scoliosis, idiopathic, susceptibility to, 4 612238 Fd max lod at D9S2157 {Scoliosis, idiopathic, susceptibility to, 4} (2)
9.368 6 26 16 9q31.3 FRRS1L, C9orf4, CG6, EIEE37 C Ferric-chelate reductase 1-like 604574 REc, REa Epileptic encephalopathy, early infantile, 37, 616981 (3)
9.369 5 25 13 9q31.3 GNG10 P Guanine nucleotide-binding protein, gamma 10 604389 REc
9.370 12 17 15 9q31.3 KIAA0368, ECM29 P KIAA0368 gene 616694 R, REc
9.371 9 18 08 9q31.3 LPAR1, EDG2, LPA1, VZG1 P Lysophosphatidic acid receptor 1 602282 R, REc 4(vzg1)
9.372 3 23 09 9q31.3 MIR32, MIRN32 P Micro RNA 32 609355 REc
9.373 4 10 14 9q31.3 PTGR1, LTB4DH P Prostaglandin reductase 1 601274 REc
9.374 8 8 13 9q31.3 PTPN3, PTPH1 P Protein-tyrosine phosphatase, nonreceptor-type, 3 176877 A, REc
9.375 8 4 15 9q31.3 MUSK, CMS9, FADS C Receptor tyrosine kinase MuSK 601296 A Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3); Fetal akinesia deformation sequence, 208150 (3) 4(Musk)
9.376 3 30 12 9q32 CDC26, APC12 P Cell division cycle 26, S. cerevisiae, homolog of 614533 REc pseudogene on 7q32.1
9.377 8 12 14 9q32 COL27A1, KIAA1870, STLS P Collagen, type XXVII, alpha-1 608461 REc mutation identified in 1 STLS family ?Steel syndrome, 615155 (3) 4(Col27a1)
9.378 4 17 00 9q33.1 DEC1 P Deleted in esophageal cancer 1 604767 D Esophageal squamous cell carcinoma, 133239 (1)
9.379 3 27 17 9q32 FKBP15, FKBP133, KIAA0674, WAFL P FK506-binding protein 15 617398 REc
9.380 4 30 09 9q32 IBD16 P Inflammatory bowel disease 16, susceptibility to 612259 Fd {Inflammatory bowel disease 16} (2)
9.381 8 2 17 9q32 INIP, C9orf80, SOSSC P INST3- and NABP-interacting protein 613273 REc
9.382 3 9 17 9q32 KIAA1958 P KIAA1958 gene 617390 REc
9.383 8 19 13 9q32 KIF12 P Kinesin family member 12 611278 REc
9.384 1 2 08 9q31.3 SVEP1, POLYDOM, SELOB C Sushi, von willebrand factor type A, EGF, and pentraxin domain-containing 1 611691 A, H, REc 4(Svep1)
9.385 9 26 08 9q32 TNFSF15, TL1, VEGI C Tumor necrosis factor ligand superfamily, member 15 (vascular endothelial growth inhibitor) 604052 R, A
9.386 11 29 17 9q31.3 TXNDC8, SPTRX3 P Thioredoxin domain-containing protein 8 617789 REc
9.387 8 10 98 9q32 ZFP37 P Zinc finger protein-37, mouse, homolog of 602951 REa, A ?candidate for Nager syndrome 4(Zfp37)
9.388 8 17 16 9q32 ZNF618, NEDD10, KIAA1952 P Zinc finger protein 618 617077 REc
9.389 1 6 93 9q32 AMBP, ITIL, ITI, HCP C Alpha-1-microglobulin/bikunin precursor (inter-alpha-trypsin inhibitor, light chain; protein HC) 176870 REa, A, H 4(Intin4)
9.390 5 5 16 9q32-q33 ARMD10 C Macular degeneration, age-related, 10 611488 Fd Macular degeneration, age-related, 10 (2)
9.391 10 6 09 9q32-q33 EIG3 P Epilepsy, idiopathic generalized, susceptibility to 3 608762 Fd {Epilepsy, idiopathic generalized, susceptibility to, 3} (2)
9.392 5 5 16 9q33.1 TLR4 C Toll-like receptor-4 603030 A
9.393 12 24 08 9q33.2 MEGF9, EGFL5 P Multiple epidermal growth factor-like domains 9 604268 R
9.394 1 7 95 9q33.2 PTGS1, COX1, PGHS1, COX3, PCOX1 P Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 176805 REa, A
9.395 10 11 07 9q32 WHRN, CIP98, KIAA1526, DFNB31, USH2D C Whirlin 607928 Fd, REc Deafness, autosomal recessive 31, 607084 (3); Usher syndrome, type 2D, 611383 (3) 4(Whrn)
9.396 1 8 01 9q33.2 MRFF, RRF P Ribosome-recycling factor, mitochondrial 604602 R
9.397 3 29 10 9q33 ASRT8 P Asthma-related traits, susceptibility to, 8 613207 Fd associated with rs3789873 {Asthma-related traits, susceptibility to, 8} (2)
9.398 1 30 01 9q33.2 CEP1, CEP110, FAN P Centrosomal protein 1 605496 R 2(Cep1)
9.399 5 5 10 9q33.2 DAB2IP, AIP1, KIAA1743 P DAB2-interacting protein 609205 REc
9.400 8 4 97 9q33.2 GPR21 P G protein-coupled receptor-21 601909 A
9.401 5 30 17 9q33.3 NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8, SRXX4 C Nuclear receptor subfamily 5, group A, member 1 184757 A 46XY sex reversal 3, 612965 (3); Premature ovarian failure 7, 612964 (3); Adrenocortical insufficiency, 612964 (3); 46, XX sex reversal 4, 617480 (3); Spermatogenic failure 8, 613957 (3) 2(Ftzf1)
9.402 10 7 02 9q32 POLE3, CHARAC17, YBL1 P Polymerase, DNA, epsilon-3 607267 REc
9.403 2 10 14 9q33.1 TNC, HXB, DFNA56 C Tenascin C (hexabrachion) 187380 REa, A proximal to ABL Deafness, autosomal dominant 56, 615629 (3) 4(Hxb)
9.404 6 14 99 9q32-q33 TNFSF8, CD30L, CD30LG P Tumor necrosis factor ligand superfamily, member 8 (CD30 ligand) 603875 A 4(Cd30l)
9.405 8 20 98 9q33.3 GCNF P Germ cell nuclear factor 602778 A
9.406 12 22 17 9q33.2 GGTA1P, GGTA1 P Glycoprotein, alpha-galactosyltransferase-1 pseudogene 104175 REa, A processed pseudogene GGTA1P on 12q14-q15
9.407 7 27 11 9q34.12 LAMC3, OCCM P Laminin, gamma-3 604349 REc, A Cortical malformations, occipital, 614115 (3)
9.408 6 11 94 9q33.3 PBX3 C Pre-B-cell leukemia transcription factor-3 176312 A, H 2(Pbx3)
9.409 9 29 10 9q34.11 SPTAN1, NEAS, EIEE5 C Spectrin, alpha, nonerythrocytic-1 (alpha-fodrin) 182810 REa, A Epileptic encephalopathy, early infantile, 5, 613477 (3) 2(Spna2)
9.410 3 2 98 9q33.2 TRAF1 P TNF receptor-associated factor 2 601711 A
9.411 6 30 08 8q24 BMND10 P Bone mineral density quantitative trait locus 10 612113 Fd associated with rs6469804 and rs6993813 [Bone mineral density QTL 10] (2)
9.412 7 12 99 9q33.3 LHX2, LH2 P LIM/homeodomain protein LHX2 603759 REa, A
9.413 7 13 09 9q33.1 ASTN2, KIAA0634 C Astrotactin 2 612856 R, REc
9.414 4 29 14 9q33.1 BRINP1, DBC1, DBCCR1 P Bone morphogenetic protein/retinoic acid-inducible neural-specific protein 1 602865 REc
9.415 1 8 07 9q33.1 DIPAS P DIPLA1, antisense 610689 REc
9.416 7 13 93 9q33.1 PAPPA P Pregnancy-associated plasma protein A 176385 A 4(Pappa)
9.417 11 22 10 9q33.3 DENND1A, KIAA1608 C DENN/MADD domain-containing protein 1A 613633 R, REc
9.418 12 10 13 9q33.2 LHX6 P LIM homeobox gene 6 608215 REc
9.419 9 8 17 9q33.2 PSMD5, S5B P Proteasome 26S subunit, non-ATPase, 5 604452 REa
9.420 3 31 09 9q33.2 RAB14 P Ras-associated protein 612673 REc
9.421 7 17 14 9q33.2-q33.3 RABGAP1, GAPCENA, TBC1D11 P RAB GTPase-activating protein 1 615882 REc
9.422 6 15 99 9q33.2 NDUFA8 C NADH-ubiquinone oxidoreductase 1 beta subcomplex, 8 603359 R, Psh
9.423 2 25 15 9q33.3 ANGPTL2, ARP2 P Angiopoietin-like 2 605001 REc
9.424 4 25 05 9q33.2 CDK5RAP2, KIAA1633, MCPH3 C CDK5 regulatory subunit-associated protein 2 608201 REc, Fd Microcephaly 3, primary, autosomal recessive, 604804 (3)
9.425 2 17 15 9q33.3 CRB2, FSGS9, VMCKD P Crumbs, Drosophila, homolog of 609720 REc Focal segmental glomerulosclerosis 9, 616220 (3); Ventriculomegaly with cystic kidney disease, 219730 (3) 2(Crb2)
9.426 1 4 08 9q33.3 GAPVD1, RAP6, GAPEX5, KIAA1521 P GTPase-activating protein and VPS9 domains 1 611714 REc
9.427 5 25 13 9q33.3 GOLGA1 P Golgi autoantigen, golgin subfamily A, 1 602502 REc
9.428 5 26 13 9q33.3 MAPKAP1, SIN1, MIP1, JC310 P Mitogen-activated protein kinase-associated protein 1 610558 REc, R
9.429 5 11 09 9q33.3 MIR181A2, MIRN181A2 P Micro RNA 181A2 612743 REc
9.430 5 11 09 9q33.3 MIR181B2, MIRN181B2 P Micro RNA 181B2 612745 REc
9.431 8 1 14 9q33.3 OLFML2A P Olfactomedin-like 2A 615899 REc
9.432 12 23 05 9q33.2 PHF19 P PHD finger protein 19 609740 REc
9.433 4 15 09 9q33.3 PPP6C P Protein phosphatase 6, catalytic subunit 612725 A, REc highly related sequence on Xq22.3
9.434 1 30 12 9q33.3 RALGPS1, RALGEF2, KIAA0351 C Ral guanine nucleotide exchange factor with PH domain and SH3 domain-binding motif 1 614444 R, REc
9.435 8 21 07 9q33.3 RPL12 P Ribosomal protein L12 180475 REc
9.436 1 2 08 9q33.3 ZBTB34, KIAA1993 P Zinc finger- and BTB domain-containing protein 34 611692 REc
9.437 1 19 12 9q33.3-q34.1 LRSAM1, TAL, RIFLE, CMT2P P Leucine-rich repeat- and sterile alpha motif-containing 1 610933 REc Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3)
9.438 5 11 00 9q33.3 NEK6 P Never-in-mitosis gene A-related kinase 6 604884 R
9.439 10 29 99 9q34.3 ABCA2, ABC2 P ATP-binding cassette 2 600047 A
9.440 11 18 14 9q34.2 ABO C ABO glycosyltransferase 110300 F, Fc linked to AK1 [Blood group, ABO system], 616093 (3)
9.441 3 5 04 9q34.2 ADAMTS13, VWFCP, TTP P A disintegrin-like and metalloprotease with thrombospondin type 1 motif, 13 604134 Fd, REc Thrombotic thrombocytopenic purpura, familial, 274150 (3)
9.442 5 19 09 9q32 ALAD, ALADH, PBGS C Aminolevulinate, delta-, dehydratase 125270 F, S, A, REa linked to ABO; ORM-ALAD-AK-ABO Porphyria, acute hepatic, 612740 (3); {Lead poisoning, susceptibility to}, 612740 (3) 4(Lv)
9.443 4 8 02 9q34.13 BARHL1 P BARH-like 1 605211 R 2(Barh1)
9.444 3 28 15 9q34.3 CACNA1B, CACNL1A5, DYT23 C Calcium channel, voltage-dependent, L type, alpha 1B subunit 601012 A mutation identified in 1 DYT23 family ?Dystonia 23, 614860 (3)
9.445 10 9 12 9q34.11 CIZ1, ZNF356, LSFR1, NP94 P CDKN1A-interacting zinc finger protein 1 611420 R, A
9.446 9 24 08 9q34.3 COBRA1, NELFB, KIAA1182 P Cofactor of BRCA1 611180 R, REc
9.447 6 13 12 9q33.2 FBXW2, FBW2, FWD2 P F-box and WD40 domain protein 2 609071 A 2(Fbxw2)
9.448 11 7 08 9q34.13 MED27, CRSP8, CRAP34 P Mediator complex subunit 27 605044 R
9.449 11 16 10 9q34.2 DBH C Dopamine-beta-hydroxylase 609312 F, A tightly linked to ABO [Dopamine-beta-hydroxylase activity levels, plasma] (3); Dopamine beta-hydroxylase deficiency, 223360 (3) 2(Dbh)
9.450 5 8 15 9q34.11 DNM1, EIEE31 P Dynamin-1 602377 A, REa Epileptic encephalopathy, early infantile, 31, 616346 (3) 2(Dnm1)
9.451 10 21 15 9q34.11 DYT1, TOR1A C Torsin A 605204 Fd Dystonia-1, torsion, 128100 (3); {Dystonia-1, modifier of} (3)
9.452 9 28 00 9q34.3 ENTPD2, CD39L1 P Ectonucleoside triphosphate diphosphohydrolase 2 602012 Psh, REc same cosmid as ABC2
9.453 1 13 16 9q34.3 ENTPD8 P Ectonucleoside triphosphate diphosphohydrolase 8 616748 REc
9.454 2 26 04 9q34.11 FNBP1, FBP17 P Formin-binding protein 17 606191 Ch, REc fused with MLL in chronic myeloid leukemia
9.455 6 5 97 9q34.3 FCN1 C Ficolin (collagen/fibrinogen domain-containing) 1 601252 A, Psh
9.456 6 5 97 9q34.3 FCN2 P Ficolin (collagen/fibrinogen domain-containing lectin) 2 601624 A
9.457 3 3 03 9q34.11 FREQ, NCS1 P Frequenin, Drosophila, homolog of 603315 REc
9.458 7 17 01 9q34.2 GBGT1, FS P Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (Forssman synthetase) 606074 REc
9.459 2 9 92 9q33.2 GSN P Gelsolin 137350 A, REa, RE 40kb proximal to ABL Amyloidosis, Finnish type, 105120 (3) 2(Gsn)
9.460 8 5 97 9q33.3 HSPA5, GRP78 C Heat-shock 70kD protein-5 (glucose-regulated protein, 78kD) 138120 REa, H, Psh, A 2(Grp78)
9.461 3 13 08 9q34.11 GLE1, GLE1L, LCCS, LCCS1 C Gle1, RNA export mediator, S. cerevisiae, homolog of 603371 Fd, REc Lethal congenital contracture syndrome 1, 253310 (3); Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)
9.462 5 9 12 9q34 KTCN6 P Keratoconus 6 614623 Fd max lod at 159cM Keratoconus 6 (2)
9.463 10 13 94 9q34.3 LCN1 C Lipocalin 1 (protein migrating faster than albumin, tear prealbumin) 151675 A, Psh, Fd 2(Lcn1)
9.464 11 22 94 9q34.11 LCN2, NGAL P Lipocalin 2 (oncogene 24p3) 600181 REa 2(Lcn2)
9.465 5 23 05 9q34.3 LCN6 P Lipocalin 6 609379 REc
9.466 7 22 09 9q34.3 LCN8 P Lipocalin 8 612902 REc, H 2(Lcn8)
9.467 7 22 09 9q34.3 LCN9 P Lipocalin 9 612903 REc, H 2(Lcn9)
9.468 7 22 09 9q34.3 LCN10 P Lipocalin 10 612904 REc, H 2(Lcn10)
9.469 7 22 09 9q34.3 LCN12 P Lipocalin 12 612905 REc, H 2(Lcn12)
9.470 4 23 08 9q34.3 MRPS2 P Mitochondrial ribosomal protein S2 611971 R, REc
9.471 6 15 99 9q34.11 ODF2, ODF84 P Outer dense fiber of sperm tails 2 602015 A
9.472 2 28 00 9q34.3 OBP2A P Odorant-binding protein 2A 164320 REc
9.473 2 28 00 9q34.2 OBP2B P Odorant-binding protein 2B 604606 REc
9.474 9 4 91 9q34.3 PAEP, PP14 C Progestagen-associated endometrial protein (placental protein 14) 173310 REa, A, H 2(Paep)
9.475 10 1 95 9q34.11 PPP2R4, PTPA P Protein phosphatase-2A, regulatory subunit B' (PR 53) 600756 A proximal to ABL
9.476 8 18 97 9q34.1-q34.2 RALGDS P ral guanine nucleotide dissociation stimulator 601619 R, REc
9.477 5 24 13 9q33.2 RC3H2, MNAB P RING finger and CCCH-type zinc finger domains-containing protein 2 615231 REc
9.478 9 28 05 9q34.2 REXO4, XPMC2H P RNA exonuclease 4, S. cerevisiae, homolog of 602930 REc
9.479 12 3 96 9q34.2 RING3L, ORFX P RING3-like gene (open reading frame X) 601541 REn
9.480 5 27 93 9q34.2 RPL7A, SURF3 C Ribosomal protein L7a (surfeit-3) 185640 REa, A in cluster with SURF1 2(Surf3)
9.481 3 23 15 9q34.13 SETX, SCAR1, AOA2, ALS4 C Senataxin 608465 Fd, REc Amyotrophic lateral sclerosis 4, juvenile, 602433 (3); Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
9.482 1 4 96 9q34.11 SET P SET gene 600960 A fused with CAIN in acute undifferentiated leukemia
9.483 4 4 02 9q34.2 SLC2A6 P Solute carrier family 2, member 6 606813 REc
9.484 10 12 09 9q34.11 SLC27A4, FATP4, IPS P Solute carrier family 27 (fatty acid transporter), member 4 604194 R, REc Ichthyosis prematurity syndrome, 608649 (3)
9.485 2 14 06 9q34.3 SLC34A3, NPTIIC, HHRH C Solute carrier family 34 (sodium/phosphate cotransporter), member 3 609826 REc, Fd Hypophosphatemic rickets with hypercalciuria, 241530 (3)
9.486 9 10 07 9q33.3 STRBP, SPNR, p74 P Spermatid perinuclear RNA-binding protein 611138 A, H 2(Spnr)
9.487 12 17 15 9q34.2 SURF1, CMT4K C Surfeit-1 185620 REa, A distal to ABL, CAN Leigh syndrome, due to COX IV deficiency, 256000 (3); Charcot-Marie-Tooth disease, type 4K, 616684 (3) 2(Surf)
9.488 5 27 93 9q34.2 SURF2 C Surfeit-2 185630 REa, A 2(Surf2)
9.489 5 27 93 9q34.2 SURF4 C Surfeit-4 185660 REa, A 2(Surf4)
9.490 5 27 93 9q34.2 SURF5 C Surfeit-5 185641 H, A 2(Surf5)
9.491 8 25 03 9q34.11 TOR1B, DQ1 P Torsin 1B 608050 REc centromeric to TOR1A; pseudogene on chr.2
9.492 4 20 17 9q34.13 TSC1, LAM C Hamartin (tuberous sclerosis 1 gene) 605284 F, Fd linked to ABO, ABL Tuberous sclerosis-1, 191100 (3); Lymphangioleiomyomatosis, 606690 (3); Focal cortical dysplasia, type II, somatic, 607341 (3)
9.493 5 27 93 9q34.2 SURF6 C Surfeit-6 185642 H, A 2(Surf6)
9.494 8 2 17 19p13.2 TSPAN16, TM4SF16 P Tetraspanin 16 617580 REc
9.495 5 14 95 9q34.2 VAV2 P Oncogene VAV2 600428 RE
9.496 7 13 93 9q33.3 ZNF79 P Zinc finger protein-79 (pT7) 194552 REa
9.497 8 1 17 9q34.12 ABL1, CHDSKM C Abelson murine leukemia viral (v-abl) oncogene homolog 1 189980 REa, Ch, A fusion hybrid gene with BCR1 in CML Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3); Congenital heart defects and skeletal malformations syndrome, 617602 (3) 2(Abl)
9.498 2 23 09 9q34.11 AK1 C Adenylate kinase-1 103000 F, S, D, Fc proximal to Ph1 break, 9q34.1; AK1 to ORM = 17cM Hemolytic anemia due to adenylate kinase deficiency, 612631 (3) 2(Ak1)
9.499 9 28 09 9q34.11 ASS1, ASS C Argininosuccinate synthetase 1 603470 S, D, REa, Fd 14 pseudogenes on 11 chromosomes, including X and Y and ASSP2 on 6p23-q12 Citrullinemia, 215700 (3) 2(Ass1)
9.500 9 30 14 9q33.2 C5, C5D, ECLZB C Complement component-5 120900 REa, A C5 deficiency, 609536 (3); [Eculizumab, poor response to], 615749 (3) 2(Hc)
9.501 11 5 98 9q34.11 CDK9, CDC2L4 P Cyclin-dependent kinase-9 603251 Psh
9.502 1 27 09 9q34.1 CLLS3 P Leukemia, chronic lymphocytic, susceptibility to, 3 612557 Fd associated with SNP -6531 upstream of DAPK1 promoter {Leukemia, chronic lymphocytic, susceptibility to, 3} (2)
9.503 3 27 18 9q34.11 CRAT, CAT1, NBIA8 P Carnitine acetyltransferase 600184 REa mutation identified in 1 NBIA8 patient ?Neurodegeneration with brain iron accumulation 8, 617917 (3)
9.504 10 14 95 9q21.33 DAPK1 P Death-associated protein kinase-1 600831 REa, A
9.505 3 29 12 9q34.11 DOLPP1, LSFR2 P Dolichyl pyrophosphate phosphatase 1 614516 R, A
9.506 3 9 95 9q34.11 ENDOG P Endonuclease G 600440 Psh, A
9.507 10 13 97 9q34.11 ENG, END, HHT1, ORW C Endoglin 131195 A, H, Fd Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3) 2(Eng)
9.508 6 7 10 9q34.12 FIBCD1 P Fibrinogene C domain-containing protein 1 613357 REc
9.509 6 1 09 9q33.3 LMX1B, NPS1 C LIM homeo box transcription factor 1, beta 602575 F, Fd, Ch Nail-patella syndrome, 161200 (3) 2(Lmx1b)
9.510 8 27 15 9q34.13 NUP214, D9S46E, CAN, CAIN C Nucleoporin, 214kD 114350 Ch fused with DEK in AML; fused with ABL1 in T-ALL Leukemia, acute myeloid, somatic, 601626 (3); Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3) 2(D2H9S46E)
9.511 11 10 10 9q34.13 POMT1, MDDGA1, MDDGB1, MDDGC1 C Protein O-mannosyltransferase 1 607423 R, REa, Fd Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
9.512 7 29 15 9q34.12 PRDM12, HSAN8 P PR domain-containing protein 12 616458 REc Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3)
9.513 2 6 01 9q34.11 PRRX2, PRX2 P Paired-related homeo box gene 2 604675 A
9.514 12 10 15 9q33.2 STOM, EPB72, BND7 C Stomatin (erythrocyte membrane protein band 7.2) 133090 REa, Ch, A proximal to ABL 2(Epb7.2)
9.515 8 29 08 9q34.11 STXBP1, UNC18, EIEE4 C Syntaxin-binding protein 1 602926 A Epileptic encephalopathy, early infantile, 4, 612164 (3)
9.516 8 20 88 9q32 ORM1, AGP1 C Orosomucoid-1 (alpha-1-acid glycoprotein-1) 138600 F, S, REa, Fc, A linked to ABO, AK1, ALAD 4(Orm1)
9.517 8 20 88 9q32 ORM2 C Orosomucoid-2 138610 RE, LD 4(Orm2)
9.518 1 31 13 9q34.11 ASB6 P Ankyrin repeat- and SOCS box-containing protein 6 615051 REc
9.519 12 29 06 9q34.11 C9orf90, NAIF1 P Nuclear apoptosis-inducing factor 1 610673 REc
9.520 12 29 06 9q34.11 CCBL1 C Cysteine conjugate beta-lyase 1 600547 Psh, REc
9.521 10 28 15 9q34.11 CERCAM P Cerebral endothelial cell adhesion molecule 616626 REc
9.522 3 27 17 9q34.11 DOLK, TMEM15, DK1, SEC59, KIAA1094, CDG1M P Dolichol kinase 610746 R, REc Congenital disorder of glycosylation, type Im, 610768 (3)
9.523 1 31 13 9q34.11 DPM2, CDG1U P Dolichyl-phosphate mannosyltransferase 2, regulatory subunit 603564 REc Congenital disorder of glycosylation, type Iu, 615042 (3)
9.524 8 26 15 9q34.11 GOLGA2, GM130 P Golgi autoantigen, golgin subfamily A, 2 602580 REc
9.525 9 2 12 9q34.11 MIR199B P Micro RNA 199B 614791 REc
9.526 7 8 10 9q34.11 MIR2861, MIRN2861, BMND15 P Micro RNA 2861 613405 REc [Bone mineral density QTL 15], 613418 (3)
9.527 7 17 14 9q34.11 NTMT1, METTL11A, NRMT, C9orf32 P N-terminal X-Pro-Lys N-methyltransferase 1 613560 REc
9.528 1 6 14 9q34.11 NUP188, KIAA1069 C Nucleoporin, 188kD 615587 R, REc
9.529 7 13 09 9q34.11 PIP5KL1, PIPKH P Phosphatidylinositol-4-phosphate-5-kinase-like 1 612865 REc
9.530 2 7 07 9q34.11 PKN3 P Protein kinase N3 610714 REc
9.531 8 23 12 9q34.11 SH2D3C, NSP3 P SH2 domain-containing protein 3C 604722 REc
9.532 8 9 17 9q34.11 SPOUT1, CENP32, C9orf114 P SPOUT domain-containing methyltransferase 1 617614 REc
9.533 3 20 14 9q34.11 ST6GALNAC6, SIAT7F P ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 610135 REc, R
9.534 8 26 15 9q34.11 SWI5, SAE3, C9orf119 P SWi5 homologous recombination repair protein 616528 REc
9.535 2 17 15 9q34.11 TBC1D13 P TBC1 domain family, member 13 616218 REc
9.536 7 17 14 9q34.11 TOR2A, TORP1 P Torsin 2A 608052 REc
9.537 1 29 07 9q34.11 TRUB2 P TRUB pseudouridine synthase, E. coli, homolog of, 2 610727 REc
9.538 3 31 09 9q34.11 URM1 P Ubiquitin-related modifier 1, S. cerevisiae, homolog of 612693 REc
9.539 4 8 13 9q34.11 USP20, VDU2 P Ubiquitin-specific protease 20 615143 REc
9.540 2 9 14 9q34.11 WDR34, SRTD11 P WD repeat-containing protein 34 613363 REc Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)
9.541 11 10 17 9q34.11 ZER1, ZYG11BL, C9orf60 C Zyg11-related cell cycle regulator 617764 REc
9.542 5 25 13 9q34.11-q34.12 FUBP3, FBP3 P FAR upstream element-binding protein 3 603536 REc
9.543 8 17 99 9q33.3 PSMB7 P Proteasome subunit, beta-type, 7 604030 A
9.544 11 10 17 9q34.12 EXOSC2, RRP4, SHRF P Exosome component 2 602238 REc Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763 (3)
9.545 9 16 12 9q34.12 QRFP, P518, 26RFA P Pyroglutamylated FR-amide peptide precursor protein 609795 REc
9.546 8 11 13 9q34.13 AK8 P Adenylate kinase 8 615365 REc
9.547 11 7 08 9q34.13 ALPQTL1 P Alkaline phosphatase, plasma level of, QTL 1 171720 Fd linkage with rs657152 {Alkaline phosphatase, plasma level of, QTL1} (2)
9.548 3 28 15 9q34.11 COQ4, COQ10D7 P Coenzyme Q4, S. cerevisiae, homolog of 612898 REc Coenzyme Q10 deficiency, primary, 7, 616276 (3)
9.549 8 27 15 9q34.13 DDX31, PPP1R25 P DEAD box polypeptide 31 616533 REc
9.550 3 29 07 9q34.11 FAM102A, EEIG1 P Family with sequence similarity 102, member A 610891 REc
9.551 9 8 11 9q34.11 FAM129B, MINERVA P Family with sequence similarity 129, member B 614045 REc
9.552 2 2 14 9q34.13 GFI1B, BDPLT17 P Growth factor-independent 1B 604383 REc Bleeding disorder, platelet-type, 17, 187900 (3)
9.553 3 28 16 9q34.11 LRRC8A, KIAA1437, AGM5 C Leucine-rich repeat-containing 8A 608360 REc, R, Ch mutation identified in 1 AGM5 patient ?Agammaglobulinemia 5, 613506 (3) 2(Lrrc8)
9.554 3 22 07 9q34.11 PTGES2, PGES2, GBF1 C Prostaglandin E synthase 2 608152 REc, REn
9.555 9 26 17 9q34.13 TTF1 P Transcription termination factor, RNA polymerase I 600777 REc
9.556 8 31 11 9q34.2 ADAMTSL2, KIAA0605, GPHYSD1 P ADAMTS-like protein 2 612277 R, REc Geleophysic dysplasia 1, 231050 (3)
9.557 11 11 09 9q34.2 C9orf7, FLOWER P Flower, Drosophila, homolog of 613104 REc
9.558 7 18 14 9q34.13 GTF3C5, TFIIIC63 P General transcription factor 3C, polypeptide 5 604890 REc
9.559 7 25 17 9q34.2 MYMK, TMEM8C P Myomaker 615345 REc Carey-Fineman-Ziter syndrome, 254940 (3)
9.560 9 26 17 9q34.2 RNU6ATAC, U6ATAC P RNA, U6ATAC small nuclear 601429 REc
9.561 7 1 05 9q34.13 UCK1 P Uridine/cytidine kinase 1 609328 REc
9.562 1 31 13 9q34.2 SARDH, SARD, SAR P Sarcosine dehydrogenase 604455 H, REc [Sarcosinemia], 268900 (3) 2(sar)
9.563 12 22 17 9q34.3 COL5A1, EDSCL1 C Collagen V, alpha-1 polypeptide 120215 REa, A, Fd Ehlers-Danlos syndrome, classic type, 1, 130000 (3) 2(Col5a1)
9.564 6 11 94 9q34.3 PTGDS C Prostaglandin D2 synthase (21kD, brain) 176803 A, H distal to ABL 2(Ptgds)
9.565 5 5 04 9q34.3 AGPAT2, LPAAB, BSCL, BSCL1 C 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase-beta) 603100 A, Fd Lipodystrophy, congenital generalized, type 1, 608594 (3)
9.566 11 26 97 9q34.3 C8G C Complement component-8, gamma polypeptide 120930 REa, H, Fd 2(C8g)
9.567 3 29 12 9q34.3 C9orf116, PIERCE1 P p53-induced expression in RB-null cells 1 614502 REc, H 2(Pierce1)
9.568 6 10 08 9q34.3 C9orf140, P42.3 P Chromosome 9 open reading frame 140 612057 REc, H 2(P42.3)
9.569 3 24 11 9q34.3 CAMSAP1 P Calmodulin-regulated spectrin-associated protein 1 613774 REc
9.570 4 26 10 9q34.3 CARD9, CANDF2 P Caspase recruitment domain-containing protein 9 607212 REc Candidiasis, familial, 2, autosomal recessive, 212050 (3)
9.571 8 17 14 9q34.3 CCDC183, KIAA1984 P Coiled-coil domain-containing protein 183 615955 REc
9.572 11 30 06 9q34.13 CEL, BSSL, CELL, MODY8 C Carboxyl-ester lipase (bile-salt stimulated lipase) 114840 REa, A Maturity-onset diabetes of the young, type VIII, 609812 (3)
9.573 5 26 13 9q34.3 DPP7, QPP P Dipeptidyl peptidase VII 610537 R, REc
9.574 11 12 09 9q34.3 EGFL7 P Epidermal growth factor-like 7 608582 A, R 2(Egfl7)
9.575 11 15 17 9q34.3 EHMT1, EUHMTASE1, DEL9q34, KLEFS1 C Euchromatic histone methyltransferase 1 607001 REc, Ch Kleefstra syndrome 1, 610253 (3)
9.576 4 2 12 9q34.3 FAM69B P Family with sequence similarity 69, member B 614543 REc
9.577 6 13 12 9q34.3 FBXW5, FBW5 P F-box and WD40 domain protein 5 609072 REc 2(Fbxw5)
9.578 1 16 18 9q34.3 GRIN1, NMDAR1, NDHMSR, NDHMSD C Glutamate receptor, ionotropic, N-methyl D-aspartate 1 138249 REb, A, Fd Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3); Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3)
9.579 1 20 11 9q34.3 GLT6D1, GT6M7, GLTDC1 P Glycosyltransferase 6 domain-containing 1 613699 REc
9.580 8 15 14 9q34.3 INPP5E, MORMS, JBTS1, CORS1 P Inositol polyphosphate-5-phosphatase, 72kD 613037 REc Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3); Joubert syndrome 1, 213300 (3)
9.581 1 9 13 9q34.3 KCNT1, KIAA1422, EIEE14, ENFL5 P Potassium channel, subfamily T, member 1 608167 R, REc Epileptic encephalopathy, early infantile, 14, 614959 (3); Epilepsy, nocturnal frontal lobe, 5, 615005 (3)
9.582 10 2 09 9q34.3 LHX3, CPHD3 P LIM/homeodomain protein LHX3 600577 H, A, REa in mouse, close to Notch1; centromeric to ABL Pituitary hormone deficiency, combined, 3, 221750 (3) 2(Lhx3)
9.583 12 15 10 9q34.3 LRRC26, CAPC P Leucine-rich repeat-containing protein 26 613505 REc
9.584 9 1 11 9q34.3 MAN1B1, MRT15 P Mannosidase, alpha, class 1B member 1 604346 REc Mental retardation, autosomal recessive 15, 614202 (3)
9.585 3 23 09 9q34.3 MIR126, MIRN126 P Micro RNA 126 611767 REc
9.586 3 5 08 9q34.3 MRPL41, MRPL27 P Mitochondrial ribosomal protein L41 611846 R, REc
9.587 11 23 16 9q34.3 MAMDC4 P MAM domain-containing protein 4 617208 REc
9.588 6 22 14 9q34.3 NACC2, RBB P NACC family, member 2, BEN and BTB/POZ domains-containing 615786 REc
9.589 3 14 13 9q34.3 NSMF, NELF, HH9 C NMDA receptor synaptonuclear signaling and neuronal migration factor 608137 R, REc Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3)
9.590 9 30 14 9q34.3 NOTCH1, TAN1, AOS5, AOVD1 C Notch, Drosophila, homolog of, 1, translocation-associated 190198 Ch, H, A Aortic valve disease 1, 109730 (3); Adams-Oliver syndrome 5, 616028 (3) 2(Notch1)
9.591 5 26 13 9q34.3 NOXA1 P NADPH oxidase activator 1 611255 REc 2(Noxa1)
9.592 7 17 01 9q34.3 NR1 P NADPH-dependent FMN- and FAD-containing oxidoreductase 606073 A
9.593 4 14 15 9q34.3 PAXX, C9orf142 P Paralog of XRCC4 and XLF 616315 REc
9.594 7 3 06 9q34.3 PHPT1 P Phosphohistidine phosphatase 1 610167 REc
9.595 2 5 16 9q34.3 PMPCA, KIAA0123, SCAR2 P Peptidase, mitochondrial processing, alpha 613036 REc Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
9.596 8 27 08 9q34.3 PNPLA7 P Patatin-like phospholipase domain containing 7 612122 REc
9.597 6 1 12 9q34.3 PPP1R26, KIAA0649 P Protein phosphatase 1, regulatory subunit 26 614056 REc, R
9.598 8 23 00 9q34.11 PTGES, PGES, PIG12, MGST1L1 P Prostaglandin E synthase 605172 A
9.599 7 13 09 9q34.3 QSOX2, SOXN P Quiescin Q6 sulfhydryl oxidase 2 612860 A
9.600 8 3 17 9q34.3 RABL6, PARF, C9orf86 P RAB-like protein 6 610615 R, REc
9.601 3 14 07 9q34.13 RAPGEF1, GRF2, C3G P RAP guanine nucleotide exchange factor 1 600303 A
9.602 5 19 94 9q34.2 RXRA C Retinoid X receptor, alpha 180245 Psh, A distal to DBH 2(Rxra)
9.603 7 13 09 9q34.3 SEC16A, SEC16L, KIAA0310, p250 P Sec16, S. Cerevisiae, homolog of, A 612854 R, REc
9.604 10 2 12 9q34.3 SNAPC4, SNAP190 P Small nuclear RNA-activating protein complex, polypeptide 4 602777 REc
9.605 9 18 17 9q34.3 SOHLH1, NOHLH, TEB2, ODG5 P Spermatogenesis- and oogenesis-specific basic helix-look-helix protein 1 610224 REc Ovarian dysgenesis 5, 617690 (3)
9.606 4 17 07 9q34.3 SSNA1, NA14 P Sjogren syndrome nuclear autoantigen 1 610882 REc
9.607 9 12 15 9q34.3 TMEM203 P Transmembrane protein 203 616499 REc
9.608 4 20 10 9q34.3 TPRN, C9orf75, DFNB79 P Taperin 613354 REc, H, Fd Deafness, autosomal recessive 79, 613307 (3) 2(Tprn)
9.609 8 19 14 9q34.3 TRAF2, TRAP P TNF receptor-associated factor 2 601895 REc
9.610 2 16 18 9q34.3 TUBB4B, TUBB2C, LCAEOD P Tubulin, beta-4B 602660 REc Leber congenital amaurosis with early-onset deafness, 617879 (3)
9.611 4 1 09 9q34.3 UBAC1, GBDR1 P Ubiquitin-associated domain-containing protein 1 608129 Psh, REc
9.612 2 18 10 9q34.3 WDR85 P WD repeat-containing protein 85 613210 REc
9.613 9 18 08 9q34.3 ZMYND19, MIZIP P Zinc finger MYND domain-containing protein 19 611424 REc, H 2(Zmynd19)
9.614 5 16 02 9q34.3 ANAPC2, APC2, KIAA1406 P Anaphase-promoting complex, subunit 2 606946 R
9.615 4 30 03 9q32 ATP6V1G1, ATP6G1 P ATPase, H+ transporting, lysosomal, 13kD, V1 subunit G, isoform 1 607296 R
9.616 1 24 01 9q31.1 CAPE P Chromosome-associated protein E 605576 R
9.617 12 27 01 9q34.3 CLIC3 P Chloride intracellular channel 3 606533 R
9.618 7 15 02 9q22.32 FBP2 P Fructose-1,6-bisphosphatase 2 603027 R
9.619 3 5 98 9q34.3 FUT7 P Fucosyltransferase 7 (alpha (1,3) fucosyltransferase) 602030 REa
9.620 10 23 87 Chr.9 H142T P Temperature sensitivity complementation, H142 187290 S
9.621 6 13 02 9p13.2 MELK, KIAA0175 P Maternal embryonic leucine zipper kinase 607025 REa 4(Melk)
9.622 8 27 01 9q34.3 NPDC1, CAB1 P Neural proliferation, differentiation, and control protein 1 605798 R
9.623 12 14 01 9q34.3 OLFM1, AMY P Olfactomedin 1 605366 R
9.624 5 4 00 9q33.2 PDCL P Phosducin-like 604421 REa, R
9.625 2 21 03 9q32 ROD1 P Regulator of differentiation 1 607527 R
9.626 11 15 00 9q33.3 SLC2A8, GLUT8 P Solute carrier family 2, (facilitated glucose transporter) member 8 605245 R
9.627 4 26 01 9p13.3 UNC13, MUNC13 P UNC13, C. elegans, homolog of 605836 R
10.1 3 6 94 10p15.1 CALML3 P Calmodulin-like 3 114184 REa, Psh, A
10.2 10 15 97 10p13 PHYH, PAHX P Phytanoyl-CoA hydroxylase 602026 LD, R Refsum disease, 266500 (3)
10.3 3 6 00 10pter-q11 ST12, PAC1 P Suppression of tumorigenicity 12, prostate 601188 M Prostate adenocarcinoma (2)
10.4 8 29 07 10p15.3 DIP2C, KIAA0934 C Disco-interacting protein 2, Drosophila, homolog of, C 611380 R, REc
10.5 8 26 15 10p15.3 LARP4B, LARP5, KIAA0217 C La ribonucleoprotein domain family, member 4B 616513 R, REc
10.6 2 2 16 10p15.3 TUBB8, OOMD2 P Tubulin, beta 8 616768 REc Oocyte maturation defect 2, 616780 (3)
10.7 2 9 92 10p15.2 PFKP C Phosphofructokinase, platelet type 171840 S, A, D
10.8 1 31 13 10p15.1 ASB13 P Ankyrin repeat- and SOCS box-containing protein 13 615055 REc
10.9 4 25 17 10p15.1 AKR1E2, HTSP, TAKR P Aldo-keto reductase family 1, member E2 617451 REc
10.10 8 26 09 10p14 ATP5C1, ATP5CL1, ATP5C P ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide-1 108729 REa, REc
10.11 9 9 08 10p15.1 FBXO18, FBH1, FBX18 P F-box only protein 18 607222 REc 2(Fbxo18)
10.12 7 20 15 10p15.1 IL2RA, CD25, IL2R, IDDM10, IMD41 C Interleukin-2 receptor, alpha 147730 REa, A, Fd, LD Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3); {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3) 2(Il2ra)
10.13 2 23 09 10p15.1 MS2 P Multiple sclerosis, susceptibility to, 2 612594 Fd associated with rs12722489 and rs2104286 {Multiple sclerosis, susceptibility to, 2} (2)
10.14 9 17 07 10p15.1 RBM17, SPF45 P RNA binding motif protein 17 606935 REc
10.15 7 9 09 10p13 TRDMT1, DMNT2 C tRNA aspartic acid methyltransferase 1 (DNA methyltransferase 2) 602478 R, A
10.16 3 6 98 10p15.3 ADARB2, RED2 P Adenosine deaminase, RNA-specific, B2 (homolog of rat BLUE) 602065 REa
10.17 8 3 11 10p14 GATA3, HDR, HDRS C GATA-binding protein-3 131320 A, Ch Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3) 2(Gata3)
10.18 1 13 99 10p15.1 GDI2, RABGDIB P GDP dissociation inhibitor 2 600767 A pseudogene on chr.7
10.19 9 9 13 10p15.3 IDI1 P Isopentenyl-diphosphate delta isomerase 1 604055 REc 13(Idi1)
10.20 9 9 13 10p15.3 IDI2, IPPI2 P Isopentenyl-diphosphate delta isomerase 2 615389 REc 13(Idi2)
10.21 9 9 13 10p15.3 IDI2AS1 P IDI2 antisense RNA 1, noncoding 615391 REc
10.22 10 6 92 10p14 ITIH2 C Inter-alpha (globulin) inhibitor, H2 polypeptide 146640 A, H 2(Intin2)
10.23 12 20 05 10p14 ITIH5 P Inter-alpha-trypsin inhibitor, heavy chain 5 609783 REc
10.24 10 7 05 10p15.2 KLF6, COPEB, BCD1, ZF9 C Kruppel-like factor-6 602053 REa, A Prostate cancer, somatic, 176807 (3); Gastric cancer, somatic, 613659 (3)
10.25 8 2 13 10p15 PFFE1 P Plasmodium falciparum fever episodes QTL1 611384 Fd {Plasmodium falciparum fever episodes QTL1} (2)
10.26 9 27 95 10p15.1 PRKCQ P Protein kinase C, theta 600448 A 2(Pkcq)
10.27 8 18 99 10p15.1 AKR1C1, DDH1, DD1, HAKRC P Aldo-keto reductase family 1, member 1 (dihydrodiol dehydrogenase, type 1) 600449 Psh, A
10.28 10 10 11 10p15.1 AKR1C2, DDH2, DD2, HAKRD, SRXY8 P Aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase, type II) 600450 Psh, A Obesity, hyperphagia, and developmental delay (3); 46XY sex reversal 8, 614279 (3)
10.29 8 18 99 10p15.1 AKR1C3, HAKRB, DD3 P Aldo-keto reductase family 1, member C3 603966 REa, A
10.30 10 10 11 10p15.1 AKR1C4, CHDR, CDR, HAKRA, DD4 P Aldo-keto reductase family 1, member C4 (chlordecone reductase) 600451 REa, A {46XY sex reversal 8, modifier of}, 614279 (3)
10.31 2 15 96 10p15.1 IL15RA P Interleukin-15 receptor, alpha 601070 A 2(Il15ra)
10.32 2 26 01 10p14 KIN, KIN17, BTCD P Antigenic determinant of recombination protein A, mouse, homolog of 601720 A 2(kin17)
10.33 7 26 10 10p13 OPTN, GLC1E, FIP2, HYPL, NRP, ALS12 C Optineurin 602432 Fd Glaucoma 1, open angle, E, 137760 (3); {Glaucoma, normal tension, susceptibility to}, 606657 (3); Amyotrophic lateral sclerosis 12, 613435 (3)
10.34 1 31 01 10p15.1 PFKFB3, IPFK2 P 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 605319 A
10.35 3 11 03 10p14 UPF2, RENT2 P UPF2 regulator of nonsense transcripts, yeast, homolog of 605529 R
10.36 8 20 08 10p14 CRCS5 P Colorectal cancer, susceptibility to, 5 612230 Fd associated with rs10795668 {Colorectal cancer, susceptibility to, 5} (2)
10.37 11 21 14 10p14 DHTKD1, KIAA1630, AMOXAD, CMT2Q P Dehydrogenase E1 and transketolase domains-containing protein 1 614984 Psh, REc mutation identified in 1 CMT2Q family 2-aminoadipic 2-oxoadipic aciduria, 204750 (3); ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
10.38 10 11 12 10p14 TAF3, TAFII140 P TAF3 RNA polymerase II, TATA box-binding protein-associated factor, 140kD 606576 REc
10.39 1 20 17 10p12.1 YME1L1, YME1L, PAMP, OPA11 P Mitochondrial escape 1-like 1 607472 REc mutation identified in1 OPA11 family ?Optic atrophy 11, 617302 (3)
10.40 9 9 13 10p14 SFMBT2, KIAA1617 P SCM-like protein with 4 MBT domains 2 615392 REc 2(Sfmbt2)
10.41 11 6 14 10p15.3 ZMYND11, BS69, BRAM1, MRD30 P Zinc finger MYND domain-containing protein 11 608668 A Mental retardation, autosomal dominant 30, 616083 (3)
10.42 10 1 17 10p14-p13 CDC123 P Cell division cycle 123 617708 REc
10.43 9 2 96 10p14-p13 DGCR2, DGS2 C DiGeorge syndrome chromosome region-2 601362 Ch DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
10.44 3 2 98 10p12.33 STAM P Signal transducing adaptor molecule 601899 A 2(Stam)
10.45 1 6 00 10p14-p12 ARVD6 P Arrhythmogenic right ventricular dysplasia 6 604401 Fd Arrhythmogenic right ventricular dysplasia 6 (2)
10.46 12 15 05 10p13 AD7 P Alzheimer disease 7 606187 Fd max LOD at D10S1423 Alzheimer disease-7 (2)
10.47 5 26 13 10p13 ARMETL1, CDNF P Arginine-rich protein mutated in early stage tumors-like 1 611233 REc
10.48 11 4 93 10p12.2 BMI1 P Oncogene BMI-1 164831 A
10.49 5 13 13 10p13 C1QL3, CTRP13, K100 P Complement component 1, q subcomponent-like 3 615227 REc, H 1(C1ql3)
10.50 2 25 15 10p13 CAMK1D, CKLIK P Calcium/calmodulin-dependent protein kinase I-delta 607957 REc
10.51 8 2 13 10p14 CELF2, CUGBP2, ETR3, BRUNOL3 P CUGbp- and ELAV-like family, member 2 602538 REc
10.52 2 17 16 10p13 FRMD4A, KIAA1294, CCAFCA C FERM domain-containing protein 4A 616305 R, REc mutation identified in 1 CCAFCA family ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)
10.53 4 10 14 10p13 ITGA8, RHDA1 P Integrin, alpha-8 604063 REc Renal hypodysplasia/aplasia 1, 191830 (3)
10.54 2 16 06 10p13 LPRS C Leprosy, paucibacillary type, susceptibility to 609888 Fd {Leprosy, paucibacillary type, susceptibility to} (2)
10.55 5 16 05 10p13 MCM10, CNA43 P Minichromosome maintenance 10, S. cerevisiae, homolog of 609357 R, REc
10.56 9 6 11 10p13 MEIG1 P Meiosis-expressed gene 1, mouse, homolog of 614174 REc
10.57 8 3 17 10p13 MINDY3, C10orf97, CARP P MINDY lysine-48 deubiquitinase 3 611649 REc
10.58 10 14 94 10p12.33 MRC1, MMR P Mannose receptor, C type 1 153618 Psh, A 2(Mrc1)
10.59 9 17 08 10p13 NMT2 P N-myristoyltransferase 2 603801 REc
10.60 8 26 09 10p13 PRPF18, PRP18 P Prp18, S. cerevisiae, homolog of 604993 R, REc
10.61 8 26 09 10p13 RPP38 P Ribonuclease P, 38-kD subunit 606116 R, REc
10.62 8 26 09 10p13 RSU1 P Ras suppressor protein 1 179555 REa, REc
10.63 3 24 11 10p13 SEPHS1, SPS1 P Selenophosphate synthetase 1 600902 REc
10.64 8 26 09 10p13 SUV39H2, FLJ23414 P Suppressor of variegation 3-9, Drosophila, homolog of, 2 606503 R, REc 2(Suv39h2)
10.65 8 25 04 10p14 USP6NL, RNTRE P USP6 N-terminal-like 605405 Ch
10.66 5 10 17 10p13 VIM, CTRCT30 C Vimentin 193060 REa Cataract 30, pulverulent, 116300 (3) 2(Vim)
10.67 1 12 09 10p12.31 NEBL C Nebulette 605491 R, A
10.68 6 4 10 10p11.22 ARHGAP12 P Rho GTPase-activating protein 12 610577 REc
10.69 1 8 16 10p12.33 HACD1, PTPLA P 3-hydroxyacyl-CoA dehydratase 1 610467 REc
10.70 1 23 13 10p12.31 ARL5B, ARL8 P ADP-ribosylation factor-like 5B 608909 REc
10.71 10 11 17 10p12.31 MALRD1, C10orf112, DIET1 C MAM and LDL receptor class A domain-containing protein 1 617715 REc, H 2(Malrd1)
10.72 8 19 13 10p12.31 DNAJC1, HTJ1 P DNAJ/HSP40 homolog, subfamily C, member 1 611207 REc, R
10.73 5 6 13 10p12.31 MIR1915 P Micro RNA 1915 615202 REc
10.74 11 23 16 10p12.31 NSUN6 P NOP2/SUN RNA methyltransferase family, member 6 617199 REc
10.75 4 6 15 10p12.33 ST8SIA6, SIAT8F P ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 610139 REc
10.76 3 22 06 10p12.1 ARHGAP21, KIAA1424 P GTPase-activating protein, Rho, 21 609870 REc pseudogene on chr.6
10.77 3 3 10 10p12.31 EBLN1 P Endogenous Borna-like N element-containing protein 1 613249 REc
10.78 9 9 08 10p13 HSPA14, HSP70L1 P Heat-shock 70kD protein 14 610369 REc
10.79 11 30 06 10p12.31 PLXDC2, TEM7R P Plexin domain containing 2 606827 R
10.80 7 19 06 10p12.1 BAMBI, NMA P BMP and activin membrane-bound inhibitor, xenopus, homolog of 604444 Psh, A
10.81 8 18 14 10p12.2 PTF1A, PACA, PAGEN2 C Pancreas transcription factor 1, alpha subunit 607194 REc, Fd Pancreatic and cerebellar agenesis, 609069 (3); Pancreatic agenesis 2, 615935 (3)
10.82 5 26 13 10p12.2 ARMC3 P Armadillo repeat-containing protein 3 611226 REc
10.83 12 22 15 10p12.2 COMMD3 P COMM domain-containing protein 3 616700 REc
10.84 2 24 17 10p12.2-p12.1 KIAA1217, SKT P KIAA1217 gene 617367 REc
10.85 6 5 08 10p12.2 OTUD1, DUBA7 P OTU domain-containing protein 1 612022 REc
10.86 7 22 16 10p12.2 PIP4K2A, PI5P4KA, PIP5K2A P Phosphatidylinositol 5-phosphate 4-kinase, type II, alpha 603140 R, REc
10.87 10 28 15 10p12.1 ACBD5, KIAA1996 P Acyl-CoA-binding domain-containing protein 5 616618 REc
10.88 2 24 11 10p12.1 ANKRD26, KIAA1074, THC2 P Ankyrin repeat domain-containing protein 26 610855 REc Thrombocytopenia 2, 188000 (3) 6(Ankrd26)
10.89 10 15 13 10p12.1 ARMC4, CILD23 P Armadillo repeat-containing protein 4 615408 REc Ciliary dyskinesia, primary, 23, 615451 (3)
10.90 2 21 03 10p13 CUBN, IFCR, MGA1 C Cubilin (intrinsic factor-cobalamin receptor) 602997 A, R, REc Megaloblastic anemia-1, Finnish type, 261100 (3)
10.91 7 14 14 10p12.1 ENKUR, C10orf63 P Enkurin, TRPC channel-interacting protein 611025 REc 2(4933434I06Rik)
10.92 4 19 12 10p12.1 GPR158, KIAA1136 P G protein-coupled receptor 158 614573 REc 2(Gpr158)
10.93 11 1 16 10p12.1 MASTL, FLJ14813, GWL P Microtubule-associated serine/threonine kinase-like 608221 Fd, REc
10.94 4 1 09 10p12.1 MKX, IFRX, IRXL1 P Mohawk homeobox 601332 Psh, Fd 18(Mkx)
10.95 5 21 07 10p12.1 MPP7 P Membrane protein, palmitoylated 7 610973 REc
10.96 5 24 12 10p12.1 PDSS1, TPT, COQ1, COQ10D2 P Prenyl diphosphate synthase, subunit 1 607429 R, REc Coenzyme Q10 deficiency, primary, 2, 614651 (3)
10.97 2 12 07 10p12.1 PRTFDC1 P Phosphoribosyl transferase domain-containing protein 1 610751 R, REc
10.98 2 14 08 10p12.1 PTCHD3 P Patched domain-containing protein 3 611791 REc
10.99 9 17 11 10p12.1 RAB18, WARBM3 P Ras-associated protein RAB18 602207 H, REc Warburg micro syndrome 3, 614222 (3) 18(Rab18)
10.100 5 26 13 10p12.1 THNSL1, TSH1 P Threonine synthase-like 1 611260 REc
10.101 3 6 94 10p11.21 CREM P cAMP-responsive element modulator 123812 A 18(Crem)
10.102 1 13 16 10p12.1 WAC, KIAA1844, DESSH P WW domain-containing adaptor with coiled-coil region 615049 REc Desanto-Shinawi syndrome, 616708 (3)
10.103 8 28 15 10p12.31 AF10 C ALL1 fused gene from chromosome 10 602409 A, Ch fuses with MLL and HEAB Leukemia, acute myeloid, 601626 (3)
10.104 3 5 08 10p12.33-p12.31 CACNB2 C Calcium channel, voltage-dependent, beta 2 subunit 600003 A, REc Brugada syndrome 4, 611876 (3)
10.105 3 24 11 10p12.2 MSRB2, CBS1 P Methionine sulfoxide reductase B2 613782 R
10.106 5 25 00 10p11.22 NRP1, NRP, VEGF165R P Neuropilin 1 602069 REa, R
10.107 5 4 00 10p13 PTER P Phosphotriesterase-related protein 604446 A
10.108 3 19 01 10p12.2 SPAG6 P Sperm-associated antigen 6 605730 A
10.109 3 9 95 10p12.1 GAD2 C Glutamate decarboxylase-2, pancreas 138275 A 2(Gad2)
10.110 5 12 09 10p11.23 LYZL2 P Lysozyme-like 2 612748 REc
10.111 10 27 16 10p11.23 MTPAP, PAPD1, SPAX4 P Mitochondrial poly(A) polymerase 613669 REc mutation identified in 1 SPAX4 family ?Spastic ataxia 4, autosomal recessive, 613672 (3)
10.112 5 5 09 10p11.23-q21.1 DFNB33 P Deafness, autosomal recessive 33 607239 Fd prev. assignment to chr. 9 an error Deafness, autosomal recessive 33 (2)
10.113 4 15 08 10p11.22 EIG5 P Epilepsy, idiopathic generalized, susceptibility to, 5 611934 Fd max lod at D10S1426 {Epilepsy, idiopathic generalized, susceptibility to, 5} (2)
10.114 9 23 13 10p11.22 KIF5B, KNS1, UKHC P Kinesin 1 602809 REc 18(Ukhc)
10.115 4 21 16 10p11.22 ZEB1AS1 P ZEB1 antisense RNA 1, noncoding 616915 REc
10.116 3 20 07 10p11.21 ANKRD30A P Ankyrin repeat domain-containing protein 30A 610856 REc
10.117 4 1 08 10p11.21 GJD4, CX40.1 P Gap junction protein, delta-4 611922 REc
10.118 8 26 09 10p11.22-p11.21 PARD3, PAR3 P Partitioning-defective protein 3, C. elegans, homolog of 606745 R, REc
10.119 1 9 13 10p11.21-q21.1 USH1K P Usher syndrome, type IK 614990 Fd max lod at D10S539 Usher syndrome, type IK (2)
10.120 10 7 98 10p12.1 ABI1 P ABL-interactor 1 603050 Ch
10.121 5 19 09 10p11.21 CCNY, CFP1, CCNX, C10orf9 P Cyclin Y 612786 REc
10.122 8 28 01 10p11.21 FZD8 P Frizzled, Drosophila, homolog of, 8 606146 A 18(Fzd8)
10.123 3 13 92 10p11.22 ITGB1, FNRB C Integrin, beta-1 (fibronectin receptor, beta polypeptide; antigen CD29 includes MDF2, MSK12) 135630 REb, REa, F, A, S pseudogene FNRBL on 19p
10.124 10 4 05 10p11.23 MAP3K8, COT, EST, TPL2 C Mitogen-activated protein kinase kinase kinase 8 (cancer Osaka thyroid oncogene) 191195 Psh, A, H Lung cancer, somatic, 211980 (3) 18(Tpl2)
10.125 8 17 99 10p11.23 SVIL P Supervillin 604126 A
10.126 2 25 10 10p11.22 ZEB1, TCF8, NIL2A, PPCD3, FECD6 C Zinc finger E box-binding homeobox 1 189909 REa, A, Fd Corneal dystrophy, posterior polymorphous, 3, 609141 (3); Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)
10.127 5 12 09 10p11.21 CUL2 P Cullin 2 603135 A
10.128 8 20 92 10p11.21 ZNF25, KOX19 C Zinc finger protein-25 (KOX 19) 194528 REa, A
10.129 8 27 15 10p12.1 MYO3A, DFNB30 C Myosin IIIA 606808 REa, R, Fd Deafness, autosomal recessive 30, 607101 (3)
10.130 11 11 14 10p11.1 ZNF37A, KOX21, ZNF37 P Zinc finger protein 37A 616085 REc
10.131 8 20 07 10p11.22 EPC1 P Enhancer of polycomb, Drosophila, homolog of, 1 610999 R
10.132 12 19 11 10p11.23 KIAA1462, JCAD P KIAA1462 gene 614398 REc
10.133 2 21 03 10p BULN P Bulimia nervosa, susceptibility to 607499 Fd between D10S1430 and D10S1423 {Bulimia nervosa, susceptibility to} (2)
10.134 9 14 05 10p13 DCLRE1C, ARTEMIS, SCIDA C DNA cross-link repair protein 1C 605988 Fd, REc Severe combined immunodeficiency, Athabascan type, 602450 (3); Omenn syndrome, 603554 (3)
10.135 10 8 08 10p BMIQ8 C Body mass index quantitative trait locus 8 603188 Fd {Obesity, susceptibility to, BMIQ8} (2)
10.136 10 30 03 10q AITD4 P Autoimmune thyroid disease, susceptibility to, 4 608176 Fd {Autoimmune thyroid disease, susceptibility to, 4} (2)
10.137 1 12 99 10q26.11 TIAL1, TIAR, TCBP P Tia1 cytotoxic granule-associated RNA-binding protein-like 1 603413 REc, R
10.138 5 26 13 10q11.22-q11.23 ARHGAP22 P Rho GTPase-activating protein 22 610585 REc
10.139 5 19 16 10q11.23 ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11 C Excision repair cross complementing rodent repair deficiency, complementation group 6 609413 A, M Cockayne syndrome, type B, 133540 (3); Cerebrooculofacioskeletal syndrome 1, 214150 (3); De Sanctis-Cacchione syndrome, 278800 (3); {Macular degeneration, age-related, susceptibility to, 5}, 613761 (3); UV-sensitive syndrome 1, 600630 (3); {Lung cancer, susceptibility to}, 211980 (3); Premature ovarian failure 11, 616946 (3)
10.140 8 18 98 10q22.1 TACR2, TAC2R, NKNAR C Tachykinin receptor 2 (substance K receptor; neurokinin 2 receptor) 162321 REa, A
10.141 10 24 11 10q22.2 ADK C Adenosine kinase 102750 S, D, EM Hypermethioninemia due to adenosine kinase deficiency, 614300 (3) 14(Adk)
10.142 8 30 02 10q11.21 CXCL12, SDF1 P Chemokine, C-X-C motif, ligand 12 (stromal cell-derived factor 1) 600835 A {AIDS, resistance to}, 609423 (3)
10.143 9 16 03 10q11.22 SYT15 P Synaptotagmin 15 608081 REc 14(Syt15)
10.144 5 27 05 10q11.21 ALOX5 P Arachidonate 5-lipoxygenase 152390 Psh {Atherosclerosis, susceptibility to} (3); {Asthma, diminished response to antileukotriene treatment in}, 600807 (3)
10.145 3 6 98 10q11.22 ANXA8 P Annexin A8 602396 A 14(Anx8)
10.146 4 30 15 10q11.23 CHAT, CMS6 C Choline acetyltransferase 118490 REa, A Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
10.147 1 29 01 10q21.1 DKK1 P Dickkopf, Xenopus, homolog of, 1 605189 A
10.148 3 23 06 10q11.22 MAPK8, PRKM8, JNK1, SAPK1 P Mitogen-activated protein kinase 8 601158 R, REc
10.149 4 23 08 10q11.22 MSMB, HPC13 C Microseminoprotein, beta 157145 REa, A {Prostate cancer, hereditary, 13}, 611928 (3)
10.150 8 14 15 10q11.22 NCOA4, ELE1, PTC3 C Nuclear receptor coactivator 4 601984 REn fused with RET to form PTC3
10.151 8 10 13 10q11.22 PTPN20A P Protein tyrosine phosphatase, nonreceptor-type, 20A 610630 Psh, A
10.152 8 19 13 10q11.22 PTPN20B P Protein tyrosine phosphatase, nonreceptor-type, 20B 610631 Psh, A
10.153 9 29 13 10q11.2-q21.1 PRKG1, PRKG1B, PRKGR1B, AAT8 P Protein kinase, cGMP-dependent, regulatory, type I 176894 REa, A Aortic aneurysm, familial thoracic 8, 615436 (3)
10.154 6 4 13 10q11.22 RBP3, RP66 C Retinol-binding protein-3, interstitial 180290 REa, A, Fd 1 family identified with mutation ?Retinitis pigmentosa 66, 615233 (3) 14(Rbp3)
10.155 5 19 16 10q11.21 RET, MEN2A, HSCR1 C RET transforming sequence; oncogene RET 164761 A, REn, Fd, Ch, D Multiple endocrine neoplasia IIA, 171400 (3); Medullary thyroid carcinoma, 155240 (3); Multiple endocrine neoplasia IIB, 162300 (3); Central hypoventilation syndrome, congenital, 209880 (3); Pheochromocytoma, 171300 (3); {Hirschsprung disease, susceptibility to, 1}, 142623 (3)
10.156 12 7 07 10q11.23 SGMS1, SMS1, TMEM23, MOB P Sphingomyelin synthase 1 611573 REc
10.157 12 6 16 10q11.23 SLC18A3, VACHT, CMS21 P Solute carrier family 18 (vesicular acetylcholine), member 3 600336 REn Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3)
10.158 8 28 92 10q11.21 ZNF22, KOX15 C Zinc finger protein-22 (KOX15) 194529 A, REa
10.159 3 12 07 10p11.1 ZNF33A, NF11A, KOX2 C Zinc finger protein-33a 194521 REa, A
10.160 3 12 07 10q11.21 ZNF33B, ZNF11B, KOX2 C Zinc finger protein-33b 194522 REa, A
10.161 8 26 09 10q11.21 ZNF239, MOK2 P Zinc finger protein-239 601069 R, REc previously 19q13.2-q13.3 6(Mok2)
10.162 12 21 12 10q21.1 MBL2, MBL, MBP1, MBL2D, MBPD C Mannose-binding lectin 2, soluble (opsonic defect) 154545 REa, A, Fd near MEN2A {Chronic infections, due to MBL deficiency}, 614372 (3) 14(Mbl1)
10.163 1 30 09 10q11.2-q21 STHAG5 P Tooth agenesis, selective, 5 610926 Fd D10S604 and D10S568 Tooth agenesis, selective, 5 (2)
10.164 12 5 07 10q21.1 UBE2D1, UBCH5A, UBCH5 C Ubiquitin-conjugating enzyme E2D 1 602961 Psh, R
10.165 2 18 98 10q11.22 PPYR1, NPY4R, PP1 P Pancreatic polypeptide receptor-1 601790 REa, REc 14(Ppyr1)
10.166 8 5 14 10q11.21 BMS1, BMS1L, KIAA0187, ACC P Bms1, ribosome assembly protein, S. cerevisiae, homolog of 611448 REc mutation identified in one ACC family ?Aplasia cutis congenita, nonsyndromic, 107600 (3)
10.167 4 6 15 10q11.21 C10orf10, DEPP, FIG P Chromosome 10 open reading frame 10 611309 REc
10.168 4 27 16 10q11.21 FXYD4, CHIF P FXYD domain-containing ion transport regulator 4 616926 REc
10.169 6 7 10 10q11.21-q11.22 MARCH8 P Membrane-associated RING-CH finger protein 8 613335 REc
10.170 3 30 12 10q11.21 RASFEF1A P RASGEF domain family, member 1A 614531 REc
10.171 5 26 13 10q11.21 RASSF4, AD037 P Ras association domain family, member 4 610559 REc
10.172 3 25 96 10q11.21 HNRPF C Heterogeneous nuclear ribonucleoprotein F 601037 A
10.173 1 29 01 10q11.22 TIMM23 P Translocase of inner mitochondrial membrane 23, Yeast, homolog of 605034 A
10.174 10 28 15 10q11.21 CSGALNACT2 P Chondroitin sulfate N-acetylgalactosaminyltransferase 2 616616 REc
10.175 3 29 10 10q11.22 FRMPD2 P FERM and PDZ domains-containing protein 2 613323 REc
10.176 11 11 13 10q11.22 GDF2, BMP9, HHT5 P Growth differentiation factor 2 (bone morphogenetic protein 9) 605120 REc Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3)
10.177 9 26 17 10q11.22 GDF10, BMP3B C Growth/differentiation factor 10 601361 REc, Psh
10.178 5 26 13 10q11.22 GPRIN2, GRIN2 P G protein-regulated inducer of neurite outgrowth 2 611240 REc
10.179 4 20 17 10q11.22 WASHC2C, FAM21C, VPEF, KIAA0592 P WASH complex, subunit 2C 613631 R, REc
10.180 3 29 10 10q11.23 WDFY4, KIAA1607 P WD repeat- and FYVE domain-containing protein 4 613316 Psh, REc
10.181 5 26 13 10q11.23 ASAH2 P N-acylsphingosine amidohydrolase 2 611202 REc
10.182 5 22 07 10q11.23 ASAH2C, ASAH2L P N-acylsphingosine amidohydrolase 2C 610987 REc
10.183 8 26 09 10q11.23 DRGX, DRG11 P Dorsal root ganglia homeobox 606701 REc
10.184 6 12 17 10q11.23 OGDHL, KIAA1290 C Oxoglutarate dehydrogenase-like protein 617513 R, REc
10.185 2 20 01 10q11.23 PARG P Poly(ADP-ribose) glycohydrolase 603501 A 14(Parg)
10.186 9 28 11 10q11.23-q22.3 HYPT9 P Hypotrichosis 9 614237 Fd between D10S538 and D10S2327 Hypotrichosis 9 (2)
10.187 10 13 09 10q21 ALL1 P Leukemia, acute lymphocytic, susceptibility to, 1 613065 Fd associated with rs10821936 {Leukemia, acute lymphocytic, susceptibility to, 1} (2)
10.188 11 7 08 10q21 ALPQTL4 P Alkaline phosphatase, plasma level of, QTL 4 612369 Fd linkage with rs12355784 {Alkaline phosphatase, plasma level of, QTL4} (2)
10.189 11 11 13 10q21.2 ANK3, MRT37 P Ankyrin-3, node of Ranvier 600465 A mutation identified in 1 family ?Mental retardation, autosomal recessive, 37, 615493 (3) 10(Ank3)
10.190 8 14 15 10q21.2 CCDC6, D10S170, H4, TST1 C Coiled-coil domain-containing 6 601985 REn fused with RET to form PTC1
10.191 2 2 14 10q21.3 CTNNA3, ARVD13 P Catenin, alpha-3 607667 A, Psh Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)
10.192 7 9 06 10q22.1 DDX21 P DEAD/H box 21 606357 R, REc 10(Ddx21)
10.193 9 24 08 10q21 IBD15 P Inflammatory bowel disease 15 612255 Fd association with rs10761659 {Inflammatory bowel disease 15} (2)
10.194 3 20 06 10q21.1 IPMK P Inositol polyphosphate multikinase 609851 REc
10.195 10 30 08 10q21 MAFD8 P Major affective disorder 8 612357 Fd associated with rs20994336 {Major affective disorder-8, susceptibility to} (2)
10.196 2 28 03 10q22.1 NPFF1 P Neuropeptide FF1 607448 R
10.197 10 17 16 10q21.1 TFAM, TCF6L2, TCF6L1, TCF6L3, MTTF1, TCF6, MTDPS15 P Transcription factor A, mitochondrial 600438 Psh, A mutation identified in 1 MTDPS15 family ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3) 10(Tfam)
10.198 8 26 17 10q22.1 CDH23, USH1D, DFNB12, PITA5 C Cadherin-23 (otocadherin) 605516 Fd, REc between D10S529 and D10S573 Usher syndrome, type 1D, 601067 (3); Deafness, autosomal recessive 12, 601386 (3); Usher syndrome, type 1D/F digenic, 601067 (3); {Pituitary adenoma 5, multiple types}, 617540 (3) 10(Cdh23, v)
10.199 6 19 98 10q22.1 EIF4EBP2, 4EBP2 P Eukaryotic translation initiation factor-4E binding protein-1 602224 A 10(Eif4ebp2)
10.200 3 18 08 10q21.1 PCDH15, DFNB23, USH1F C Protocadherin 15 605514 REc Usher syndrome, type 1F, 602083 (3); Deafness, autosomal recessive 23, 609533 (3); Usher syndrome, type 1D/F digenic, 601067 (3) 10(av)
10.201 9 29 96 10q22.2 PPP3CB, CALNB C Protein phosphatase-3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta) 114106 REa
10.202 7 7 09 10q22.1 UNC5B, UNC5H2 P Unc5, C. elegans, homolog of, B 607870 R, REc
10.203 2 2 16 10q21.1 ZWINT, SIP30 P ZW10 interacting kinetochore protein 609177 REc
10.204 1 11 07 10q22.1 SPOCK2, KIAA0275 C SPARC/osteonectin, CWCV, and KAZAL-like domains proteoglycan 2 607988 R, REc
10.205 5 14 95 10q23.31 HTR7 P 5-hydroxytryptamine (serotonin) receptor-7, adenylate cyclase-coupled 182137 REa, Fd
10.206 6 14 10 10q21.2 CDK1, CDC2 C Cyclin-dependent kinase 1 116940 REa, A 10(Cdc2a)
10.207 4 8 08 10q21.1 CISD1, MITONEET P CDGSH iron sulfur domain protein 1 611932 REc
10.208 3 9 17 10q21.3 DNAJC12, JDP1, HPANBH4 P DNAJ/HSP40 homolog, subfamily C, member 12 606060 REc Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3)
10.209 5 4 09 10q21.1 MYP15 P Myopia 15 612717 Fd max lod at D10S1643 Myopia 15 (2)
10.210 2 7 13 10q21.3 MYPN, CMD1DD, CMH22, RCM4, NEM11 P Myopalladin 608517 REc Cardiomyopathy, dilated, 1KK, 615248 (3); Cardiomyopathy, hypertrophic, 22, 615248 (3); Cardiomyopathy, familial restrictive, 4, 615248 (3); Nemaline myopathy 11, autosomal recessive, 617336 (3)
10.211 8 29 08 10q21.3 PBLD, MAWBP, MAWDBP P Phenazine biosynthesis-like protein domain-containing protein 612189 Psh, R
10.212 5 6 03 10q21.2 RHOBTB1, KIAA0740 P Rho-related BTB domain-containing protein 1 607351 REc
10.213 8 19 13 10q21.3 RUFY2, KIAA1537 P RUN and FYVE domains-containing protein 2 610328 REc, R
10.214 12 29 00 10q22.1 VPS26A, VPS26, HB58 P Vacuolar protein sorting 26, yeast, homolog of, A 605506 R
10.215 10 13 94 10q22.2 ANXA7, SNX P Annexin A7 (synexin) 186360 REa, A 14(Anx7)
10.216 4 25 03 10q21.3 EGR2, KROX20 P KROX-20, Drosophila, homolog of (early growth response-2) 129010 D, REa, A, F Neuropathy, congenital hypomyelinating, 1, 605253 (3); Charcot-Marie-Tooth disease, type 1D, 607678 (3); Dejerine-Sottas disease, 145900 (3) 10(Krox20; Egr2)
10.217 9 10 09 10q21.2 ARID5B, MRF2, DESRT P AT-rich interaction domain-containing protein 5B 608538 R, REc
10.218 2 22 18 10q21.1 BICC1, BICC, CYSRD P Bicaudal C, Drosophila, homolog of, 1 614295 REc {Renal dysplasia, cystic, susceptibility to}, 601331 (3) 10(Bicc1)
10.219 2 27 15 10q21.2 MRLN, LINC00948 P Myoregulin 616246 REc, H 10(Mrln)
10.220 9 28 11 10q21.2 SLC16A9, MCT9 P Solute carrier family 16 (monocarboxylic acid transporter), member 9 614242 REc
10.221 12 8 17 10q21.2 TMEM26 P Transmembrane protein 26 617803 REc
10.222 5 31 05 10q21.2 ZNF365, UAN C Zinc finger protein 365 607818 Fd, REc {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)
10.223 12 20 12 10q21.3 ADO, C10orf22 P 2-aminoethanethiol dioxygenase 611392 REc
10.224 2 12 09 10q21.3 CCAR1, CARP1 P Cell division cycle and apoptosis regulator 1 612569 REc
10.225 4 6 16 10q21.3 JMJD1C, TRIP8, KIAA1380 P Jumonji domain-containing protein 1C 604503 REc
10.226 3 26 07 10q21.3 LRRTM3 P Leucine-rich repeat transmembrane protein 3 610869 REc, H 10(Lrrtm3)
10.227 1 9 13 10q21.3 MSE P Myelinating Schwann cell element 614996 REc, REn
10.228 1 6 09 10q22.1 NEUROG3, NGN3, ATOH5 P Neurogenin 3 604882 REc Diarrhea 4, malabsorptive, congenital, 610370 (3)
10.229 7 23 15 10q21.3 NRBF2, COPR P Nuclear receptor-binding factor 2 616477 REc
10.230 7 1 05 10q22.1 OIT3, LZP P Oncoprotein-induced transcript 3, mouse, homolog of 609330 REc 10(Lzp)
10.231 3 24 06 10q22.1 PP C Inorganic pyrophosphatase 179030 S, D, R 10(Pyp)
10.232 7 1 05 10q21.3 REEP3, C10orf74 P Receptor expression-enhancing protein 3 609348 R, REc
10.233 9 9 08 10q21.3 SIRT1, SIR2L1 C Sirtuin, S. cerevisiae, homolog 1 604479 REc
10.234 8 25 14 10q21.3 ATOH7, PHPVAR, NCRNA P Atonal, Drosophila, homolog of, 7 609875 A, H, Fd Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3) 10(Atoh7)
10.235 6 3 14 10q21.3 DNA2, DNA2L, KIAA0083, PEOA6, SCKL8 P DNA replication helicase 2, yeast, homolog of 601810 A mutation identified in 1 SCKL8 family Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3); ?Seckel syndrome 8, 615807 (3)
10.236 4 16 14 10q21.3-q22.1 HCFP2 P Facial paresis, hereditary congenital, 2 604185 Fd Facial paresis, hereditary congenital, 2 (2)
10.237 8 2 99 10q21.3 SLC25A16, D10S105E, GDA P Solute carrier family 25 (mitochondrial carrier), member 16 (Graves disease autoantigen) 139080 A
10.238 4 10 90 10q22.1 P4HA1, P4HA C Procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide 1 176710 REa, A, REn
10.239 4 14 10 10q21.3-q22.3 HWE1 P Epilepsy, hot water, 1 613339 Fd max lod at D10S412 Epilepsy, hot water, 1 (2)
10.240 3 6 98 10q22.2 CAMK2G, CAMKG C Calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma 602123 REa, A in intron of PCDH15 14(Camkg)
10.241 12 30 15 10q22.1 COL13A1, CMS19 C Collagen XIII, alpha-1 polypeptide 120350 REa, A ~550kb proximal to P4HA Myasthenic syndrome, congenital, 19, 616720 (3)
10.242 8 25 11 10q24.2 GOLGA7B, C10orf132 P Golgin A7 family, member B 614189 REc
10.243 1 5 07 10q23.1-q23.2 GRID1, KIAA1220 P Glutamate receptor, inotropic, delta 1 610659 R, H, REc 14(Grid1)
10.244 4 27 17 10q22.1 HK1, HKD, HMSNR, RP79 C Hexokinase-1 142600 S, D, A, REa 10p11.2 conflicting assignment; ?2 loci on chr.10 Hemolytic anemia due to hexokinase deficiency, 235700 (3); Neuropathy, hereditary motor and sensory, Russe type, 605285 (3); Retinitis pigmentosa 79, 617460 (3) 10(Hk1)
10.245 6 19 98 10q21.3 HNRPH3, 2H9 P Heterogeneous nuclear ribonucleoprotein H3 602324 A
10.246 4 19 12 10q22.2 KAT6B, MYST4, MORF, GTPTS P Lysine acetyltransferase 6B 605880 A SBBYSS syndrome, 603736 (3); Genitopatellar syndrome, 606170 (3)
10.247 9 18 08 10q22.3 MAT1A, MATA1, SAMS1 P Methionine adenosyltransferase I, alpha 610550 A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3); Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
10.248 11 16 98 10q22.2 NDST2 C N-deacetylase/N-sulfotransferase 2 603268 A in intron of PCDH15
10.249 1 8 01 10q23.1 NRG3 P Neuregulin 3 605533 REa
10.250 1 30 15 10q22.1 PCBD1, DCOH C Pterin-4a-carbinolamine dehydratase 1 126090 REa, H, A Hyperphenylalaninemia, BH4-deficient, D, 264070 (3) 10(Dcoh)
10.251 7 22 15 10q22.1 PRF1, HPLH2, FLH2 C Perforin 170280 A mistakenly assigned to chr.17 Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3); Lymphoma, non-Hodgkin, 605027 (3); Aplastic anemia, 609135 (3) 10(Prf1)
10.252 5 9 07 10q22 SQTL1 P Smoking as a quantitative trait locus 1 611003 Fd near D10S1432 {Smoking as a quantitative trait locus 1} (2)
10.253 5 28 09 10q21.3 TET1, CXXC6, LCX, KIAA1676 C tet oncogene 1 607790 REc, A
10.254 2 4 00 10q22.2 VDAC2 P Voltage-dependent anion channel 2 193245 A 14(Vdac2)
10.255 12 5 01 10q23.32 BTAF1, TAFII170, TAF172, MOT1 P BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kD (Mot1, S. cerevisiae, homolog of) 605191 A, R
10.256 4 23 08 10q21.1 CSTF2T, KIAA0689 P Cleavage stimulation factor, 3-prime pre-RNA, subunit 2, 64kD, tau variant 611968 Psh, R 19(Cstf2t)
10.257 6 27 08 10q22-q23 MGR12 P Migraine, with or without aura, susceptibility to, 12 611706 Fd max lod at 100cM {Migraine, with or without aura, susceptibility to, 12} (2)
10.258 3 1 00 10q22.3 PPIF, CYP3 P Peptidylprolyl-cis-trans-isomerase, mitochondrial 604486 Fd
10.259 3 11 09 10q22.3 SFTPA2, SPA2, COLEC5 P Surfactant, pulmonary-associated protein A2 178642 Psh contiguous with SFTPA1 Pulmonary fibrosis, idiopathic, 178500 (3)
10.260 12 29 06 10q22.3 RPS24, DBA3 C Ribosomal protein S24 602412 R, Psh Diamond-blackfan anemia 3, 610629 (3)
10.261 7 1 11 10q23.31 ACTA2, ACTSA, AAT6, MYMY5 C Actin, alpha-2, smooth muscle, aorta 102620 REa, A Aortic aneurysm, familial thoracic 6, 611788 (3); Multisystemic smooth muscle dysfunction syndrome, 613834 (3); Moyamoya disease 5, 614042 (3)
10.262 8 29 07 10q23.31 MPHOSPH1, MPP1 C M-phase phosphoprotein 1 605498 R, REc
10.263 1 14 13 10q23.2-q23.3 PAPSS2, ATPSK2, BCYM4 C 3'-phosphoadenosine 5'-phosphosulfate synthase 2 603005 REc, A Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3) 19(Atpsk2, bm)
10.264 10 5 07 10q22-q24 ATFB1 P Atrial fibrillation, familial, 1 608583 Fd Atrial fibrillation, familial, 1 (2)
10.265 11 11 14 10q22.1 ADAMTS14 P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 14 607506 REc
10.266 7 26 10 10q22.1 ANAPC16, MSAG, C10orf104 P Anaphase-promoting complex, subunit 16 613427 REc
10.267 3 25 16 10q22.1 ASCC1, p50, SMABF2 P Activating signal cointegrator 1 complex, subunit 1 614215 REc mutation identified in 1 SMABF2 family Barrett esophagus/esophageal adenocarcinoma, 614266 (3); ?Spinal muscular atrophy with congenital bone fractures 2, 616867 (3)
10.268 3 3 09 10q22.1 C10orf27 P chromosome 10 open reading frame 27 612640 REc
10.269 2 2 14 10q22.1 C10orf54, B7H5 P Chromosome 10 open reading frame 54 615608 REc
10.270 11 18 10 10q22.1 CHST3, C6ST, C6ST1, HSD P Carbohydrate sulfotransferase 3 603799 REc Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
10.271 8 19 13 10q22.1 DDX50, GUB P DEAD/H box 50 610373 REc 10(Ddx50)
10.272 11 23 16 10q22.1 HKDC1 P Hexokinase domain-containing protein 1 617221 REc
10.273 5 29 12 10q22.1 KIAA1274, PALD P Paladin, mouse, homolog of 614656 REc, R
10.274 7 1 05 10q22.1 KIAA1279 P KIAA1279 gene 609367 R, REc Goldberg-Shprintzen megacolon syndrome, 609460 (3)
10.275 9 2 11 10q22.1 MCU, CCDC109A P Mitochondrial calcium uniporter 614197 REc
10.276 3 5 14 10q22.1 MICU1, CBARA1, MPXPS P Mitochondrial calcium uptake protein 1 605084 REc Myopathy with extrapyramidal signs, 615673 (3)
10.277 1 5 07 10q22.2 MRPS16, COXPD2 C Mitochondrial ribosomal protein S16 609204 R, REc Combined oxidative phosphorylation deficiency 2, 610498 (3)
10.278 1 30 01 10q22.2 MYOZ1 P Myozenin 1 (calsarcin 2) 605603 R
10.279 8 26 09 10q22.1 NODAL, HTX5 P Nodal, mouse, homolog of 601265 R, REc Heterotaxy, visceral, 5, 270100 (3) 10(nodal)
10.280 12 18 07 10q22.1 PLA2G12B, GXIIB P Phospholipase A2, group XIIB 611653 REc
10.281 1 22 08 10q22.1 PSAP, SAP1 C Prosaposin (sphingolipid activator protein-1) 176801 S, REa, A, D, Fd Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3); Gaucher disease, atypical, 610539 (3); Combined SAP deficiency, 611721 (3); Krabbe disease, atypical, 611722 (3) 10(Psap)
10.282 5 22 03 10q22.1 SARA1, SAR1A P Sar1a, S. cerevisiae, homolog 1 607691 REc, R
10.283 4 18 12 10q22.1 SLC29A3, ENT3, PHID, HCLAP P Solute carrier family 29 (nucleoside transporter), member 3 612373 R, REc Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
10.284 7 24 17 10q22.1 SGPL1, SPL, NPHS14 P Sphingosine-1-phosphate lyase 1 603729 H, REc Nephrotic syndrome 14, 617575 (3) 10(Spl)
10.285 12 21 09 10q22.1 SRGN, PRG1, PRG C Serglycin 177040 REa, A
10.286 10 11 05 10q22.1 STOX1, PEE4 P Storkhead box 1 609397 REc, Fd Preeclampsia/eclampsia 4, 609404 (3)
10.287 1 31 01 10q22.1 SUPV3L1 P Suv3-like 1 605122 A
10.288 12 21 09 10q22.1 TSPAN15, NET7 P Tetraspanin 15 613140 REn
10.289 8 20 07 10q22.1 TYSND1 P Trypsin domain-containing protein 1 611017 R, REc
10.290 2 2 04 10q22.3 RAI17, KIAA1224, ZIMP10 P Retinoic acid-induced gene 17 607159 REc
10.291 3 3 10 10q22.2 VCL, CMD1W, CMH15 C Vinculin 193065 REa, Fd, REb Cardiomyopathy, dilated, 1W, 611407 (3); Cardiomyopathy, hypertrophic, 15, 613255 (3)
10.292 4 27 12 10q22.1-q24.1 SPG27 P Spastic paraplegia-27, autosomal recessive 609041 Fd between D10S606 and D10S1758 Spastic paraplegia 27, autosomal recessive (2)
10.293 5 24 13 10q22.2 AP3M1 P Adaptor-related protein complex 3, mu-1 subunit 610366 R, REc
10.294 1 27 04 10q22.1 DNAJB12, DJ10, FLJ0027 P DNAJ, E. coli, homolog of, subfamily B, member 12 608376 R
10.295 9 24 08 10q22.2 DNAJC9, JDD1, KIAA0974 P DNAJ/HSP40 homolog, subfamily C, member 9 611206 R, REc
10.296 12 21 09 10q22.2 DUSP13, TMDP, MDSP P Dual-specificity phosphatase 13 613191 REc
10.297 7 13 15 10q22.2 ECD, SGT1 P Ecdysoneless, Drosophila, homolog of 616464 REc
10.298 8 21 12 10q22.2 MSS51, ZMYND17 P MSS51 mitochondrial translational activator, S. cerevisiae, homolog of 614773 REc
10.299 12 7 07 10q22.2 SAMD8, SMSR P Sterile alpha motif domain-containing 8 611575 REc
10.300 3 13 15 10q22.2 SEC24C, KIAA0079 P Sec24-related gene family, member C 607185 R, REc
10.301 4 26 11 10q22.2 ZNF503, NOLZ1 P Zinc finger protein 503 613902 REc
10.302 3 20 18 10q22.3 SFTPA1, SFTP1 C Surfactant, pulmonary-associated protein A1 178630 REa, A contiguous with SFTPA2 14(Sftp1)
10.303 4 21 15 10q23.2 LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3 C LIM domain binding 3 605906 R, Psh, Fd Myopathy, myofibrillar, 4, 609452 (3); Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3); Cardiomyopathy, hypertrophic, 24, 601493 (3); Left ventricular noncompaction 3, 601493 (3)
10.304 1 2 08 10q23.2 BMPR1A, ACVRLK3, ALK3 C Bone morphogenetic protein receptor, type IA 601299 R, A Polyposis, juvenile intestinal, 174900 (3); Polyposis syndrome, hereditary mixed, 2, 610069 (3); Juvenile polyposis syndrome, infantile form, 174900 (3)
10.305 10 8 13 10q22.2-q22.3 C10orf11, OCA7 P Chromosome 10 open reading frame 11 614537 REc Albinism, oculocutaneous, type VII, 615179 (3)
10.306 2 4 15 10q22.1 H2AFY2 P H2A histone family, member Y2 616141 REc
10.307 8 31 17 10q22.3 KCNMA1, SLO, PNKD3, CADEDS C Potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (slowpoke, Drosophila, homolog of) 600150 Psh, REc, Fd mutation identified in 1 CADEDS family Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3); ?Cerebellar atrophy, developmental delay, and seizures, 617643 (3)
10.308 7 13 09 10q22.3 PLAC9 P Placenta-specific gene 9 612857 REc, H 15(Plac9)
10.309 10 3 11 10q22.3 POLR3A, RPC1, RPC155, ADDH, HLD7 C Polymerase III, RNA, subunit A 614258 REc Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)
10.310 9 22 03 10q22.3 SCZD11 P Schizophrenia susceptibility locus, chromosome 10q-related 608078 Fd between D10S1677 and D10S1753 {Schizophrenia}, 181500 (2)
10.311 12 11 03 10q22.3 SLEN1 P Systemic lupus erythematosus with nephritis, susceptibility to, 1 607965 Fd {Systemic lupus erythematosus with nephritis, susceptibility to, 1} (2)
10.312 11 07 08 10q22.3 SS3 P Sarcoidosis, susceptibility to, 3 612388 Fd associated with rs2789679 and rs1049550 {Sarcoidosis, susceptibility to, 3} (2)
10.313 1 29 18 10q22.3 ANXA11, ANX11, ALS23 P Annexin A11 (annexin XI) 602572 A Amytrophic lateral sclerosis 23, 617839 (3)
10.314 3 28 15 10q23 DEL10q23, C10DELq23 P Chromosome 10q22.3-q23.2 deletion syndrome 612242 DS Chromosome 10q22.3-q23.2 deletion syndrome (4)
10.315 3 9 00 10q23.31 CH25H P Cholesterol 25-hydroxylase 604551 A, R
10.316 5 31 05 10q22.3 DLG5, PDLG, KIAA0583 C Discs large, Drosophila, homolog of, 5 604090 R
10.317 3 15 13 10q23.31 KLLN, CWS4 P Killin 612105 REc Cowden syndrome 4, 615107 (3)
10.318 5 31 05 10q23.2 MINPP1, HIPER1 P Multiple inositol polyphosphate phosphatase 1 605391 A, R, REc Thyroid carcinoma, follicular, 188470 (3) 19(Minpp1)
10.319 7 9 06 10q23.31 PANK1 P Pantothenate kinase 1 606160 REn
10.320 1 26 07 10q23.33 PLCE1, KIAA1516, NPHS3 C Phospholipase C, epsilon-1 608414 R, REc Nephrotic syndrome, type 3, 610725 (3)
10.321 8 26 09 10q24.32 POLL P Polymerase, DNA, lambda 606343 R, REc
10.322 2 25 11 10q23.1 RGR, RP44 C Retinal G protein coupled receptor 600342 A Retinitis pigmentosa 44, 613769 (3)
10.323 3 16 99 10q25.2 SMNR, SPF30 P Survival motor neuron-related protein 603519 Psh, R
10.324 10 28 08 10q23.31 STAMBPL1, KIAA1373 C STAM-binding protein-like 1 612352 R, REc 19(Stambpl1)
10.325 5 22 03 10q24.2 CNNM1, ACDP1 P Cyclin M1 (ancient conserved domain protein 1) 607802 R
10.326 3 31 08 10q23-q24 CPROTQ P C-reactive protein QTL 611920 Fd max lod at D10S1239 [C-reactive protein QTL] (2)
10.327 6 15 99 10q23.33 CYP26A1 P Cytochrome p450, subfamily XXVIA, polypeptide 1 602239 A 19(Cyp26a1)
10.328 10 23 87 10q24.1 DNTT, TDT C Terminal deoxynucleotidyltransferase 187410 REa, A, Ch 19(Tdt)
10.329 1 14 16 10q24.2 ENTPD7, LALP1 P Ectonucleoside triphosphate diphosphohydrolase 7 616753 REc
10.330 3 15 13 10q24.2 HPSE2, HPA2, UFS1 P Heparanase 2 613469 R Urofacial syndrome 1, 236730 (3)
10.331 10 21 08 10q23-q24 IBD20 P Inflammatory bowel disease 20 612288 Fd associated with rs11190140 {Inflammatory bowel disease 20} (2)
10.332 8 20 01 10q23.32 PPP1R3C, PPP1R5 P Phosphatase 1, regulatory subunit 3C 602999 R
10.333 3 6 02 10q24.1 TLL2, KIAA0932 P Tolloid-like 2 606743 A 19(Tll2)
10.334 11 4 93 10q11.21 ZNF32, KOX30 P Zinc finger protein-32 (KOX30) 194539 A 8(Zfp4)
10.335 2 9 92 10q23.33 IDE C Insulin-degrading enzyme 146680 REa, A 19(Ide)
10.336 11 14 17 10q23.1 C10orf99, CSBF, AP57 P Chromosome 10 open reading frame 99 617775 REc
10.337 10 8 12 10q23.1 CDHR1, PCDH21, PRCAD, CORD15, RP65 C Cadherin-related family, member 1 609502 REc Cone-rod dystrophy 15, 613660 (3); Retinitis pigmentosa 65, 613660 (3)
10.338 4 8 13 10q23.1 DYDC1 P DPY30 domain-containing protein 1 615154 REc
10.339 10 25 16 10q23.1 FAM213A, PAMM P Family with sequence similarity 213, member A 617165 REc
10.340 4 20 17 10q23.1 HOST2 P Long noncoding RNA HOST2 617434 REc
10.341 6 11 02 10q24.2 HPS1 C HPS gene 1 604982 LD, Fd Hermansky-Pudlak syndrome 1, 203300 (3) 19(ep, ru)
10.342 11 24 14 10q23.1 LRIT1, PAL C Leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein 1 616103 REc, A
10.343 1 11 18 10q24.1 BLNK, SLP65, AGM4 P B-cell linker protein (SH2 domain-containing leukocyte protein, 65kD) 604515 A mutation identified in 1 AGM4 family ?Agammaglobulinemia 4, 613502 (3)
10.344 8 19 13 10q23.2 MIR346 P Micro RNA 346 611190 REc
10.345 4 10 15 10q23.2 OPN4 P Opsin 4 606665 R, REc
10.346 2 12 07 10q23.2 WAPAL, KIAA0261, FOE, WAPL C Wings apart-like protein, Drosophila, homolog of 610754 R, REc
10.347 10 15 98 10q23.2 SNCG, BCSG1 C Synuclein, gamma (breast cancer-specific gene 1) 602998 R, A
10.348 12 3 98 10q24.31 NDUFB8 C NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG) 602140 R previously assigned to 12q21
10.349 4 23 04 10q24.32 ARL3, ARFL3 P ADP-ribosylation factor-like 3 604695 REa, R
10.350 11 30 06 10q23.32 CPEB3, KIAA0940 P Cytoplasmic polyadenylation element-binding protein 3 610606 R, REc
10.351 4 17 06 10q23.33 CYP2C8 P Cytochrome P450, subfamily IIc, polypeptide 8 601129 REc Rhabdomyolysis, cerivastatin-induced (3)
10.352 1 15 13 10q23.33 CYP26C1, FFDD4 P Cytochrome P450, subfamily XXVIC, polypeptide 1 608428 REc Focal facial dermal dysplasia 4, 614974 (3)
10.353 2 21 02 10q23.2 GLUD1 C Glutamate dehydrogenase-1 138130 REa, A pseudogene on Xq26-q28 Hyperinsulinism-hyperammonemia syndrome, 606762 (3) 14(Glud)
10.354 5 4 00 10q23.31 IFIT1, IFI56, G10P1, IFNAI1 C Interferon-induced protein with tetratricopeptide repeats 1 147690 REa, A 10q25-q26 = conflicting site
10.355 5 4 00 10q23.31 IFIT4 P Interferon-induced protein with tetratricopeptide repeats 4 604650 A
10.356 5 4 00 10q23.31 IFIT2, IFI54, G10P2 C Interferon-induced protein with tetratricopeptide repeats 2 147040 A, REa
10.357 6 7 10 10q23.32-q23.33 MARCH5 P Membrane-associated RING-CH finger protein 5 610637 R, REc
10.358 11 18 08 10q23.3 RCM2 P Cardiomyopathy, familial restrictive, 2 609578 Fd max lod at D10S1242 Cardiomyopathy, familial restrictive, 2 (2)
10.359 8 19 98 10q22.3 SFTPD, SFTP4 C Surfactant, pulmonary-associated protein D 178635 Psh
10.360 8 2 16 10q23.31 SLC16A12, MCT12, CTRCT47 C Solute carrier family 16 (monocarboxylic acid transporter), member 12 611910 REc, Fd mutation identified in 1 CTRCT47 family Cataract 47, juvenile, with microcornea, 612018 (3)
10.361 10 10 01 10q25.1 SORCS1 P SORCS receptor 1 606283 REc
10.362 10 10 01 10q25.1 SORCS3, KIAA1059 C SORCS receptor 3 606285 R, REc
10.363 2 8 08 10q23.33 C10orf4, FRA10AC1, FRA10A P Chromosome 10 open reading frame 4 608866 REc
10.364 9 27 17 10q23.33 CEP55, MARCH P Centrosomal protein, 55kD 610000 REc Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3)
10.365 9 26 17 10q23.33 CYP2C18 C Cytochrome P450, subfamily IIC, polypeptide 18 601131 REc, REn
10.366 12 28 08 10q23.33 EXOC6, SEC15L1, SEC15L, SEC15 P Exocyst complex component 6 609672 R, REc
10.367 3 14 13 10q23.33 FFAR4, O3FAR1, GPR120, PGR4, BMIQ10 P Free fatty acid receptor 4 609044 REc {Obesity, susceptibility to}, 607514 (3)
10.368 5 29 12 10q23.33 KIF11, KNSL1, MCLMR P Kinesin family member 11 148760 A, REc Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3) 18(Kns)
10.369 9 9 09 10q23.31 RNLS, C10orf59 P Renalase 609360 REc
10.370 10 25 16 10q23.33 SLC35G1, POST, TMEM20, C10orf60 P Solute carrier family 35, member G1 617167 REc
10.371 7 18 06 10q24.1 SORBS1, SH3D5, SH3P12, KIAA1296 C Sorbin and SH3 domain containing 1 605264 R, REc, REn
10.372 4 21 16 10q23.33 HELLS, LSH, ICF4 P Helicase, lymphoid-specific 603946 A, H Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3) 19(Hells)
10.373 10 28 14 10q23.31 ANKRD1, CARP P Ankyrin repeat domain-containing protein 1 609599 REc
10.374 1 30 12 10q23.31 ATAD1, THORASE P ATPase family, AAA domain-containing, member 1 614452 REc
10.375 9 9 09 10q23.31 IDDM24 P Diabetes mellitus, insulin-dependent, 24 613006 Fd associated with rs10509540 {Diabetes mellitus, insulin-dependent, 24} (2)
10.376 12 30 14 10q23.31 IFIT5, RI58, ISG58 P Interferon-induced protein with tetratricopeptide repeats 5 616135 REc
10.377 12 15 10 10q23.31 LIPA, CESD C Lipase A, lysosomal acid, cholesterol esterase 613497 S, H ?close to GOT Wolman disease, 278000 (3); Cholesteryl ester storage disease, 278000 (3) 19(Lip1)
10.378 9 27 17 10q23.31 LIPF C Lipase F, gastric type 601980 REc, R
10.379 4 26 11 10q23.31 LIPM, LIPL3 P Lipase family, member M 613923 REc, H 19(Lipm)
10.380 1 18 13 10q23.31 LIPN, LIPL4, ARCI8, LI4 P Lipase family, member N 613924 REc, H Ichthyosis, congenital, autosomal recessive 8, 613943 (3) 19(Lipn)
10.381 4 26 11 10q23.31 LIPK, LIPL2 P Lipase family, member K 613922 REc, H 19(Lipk)
10.382 4 26 11 10q23.31 LIPJ, LIPL1 P Lipase J 613921 REc, H 19(Lipj)
10.383 12 21 09 10q23.31 MIR107, MIRN107 P Micro RNA 107 613189 REc
10.384 6 18 10 10q23.31 PTEN, MMAC1, GLM2, CWS1 C Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) 601728 REc, REa, A, Ch Cowden syndrome 1, 158350 (3); Lhermitte-Duclos syndrome, 158350 (3); Bannayan-Riley-Ruvalcaba syndrome, 153480 (3); {Meningioma}, 607174 (3); {Glioma susceptibility 2}, 613028 (3); Macrocephaly/autism syndrome, 605309 (3); PTEN hamartoma tumor syndrome (3); VATER association with macrocephaly and ventriculomegaly, 276950 (3); {Prostate cancer, somatic}, 176807 (3); Malignant melanoma, somatic, 155600 (3); Endometrial carcinoma, somatic, 608089 (3); Squamous cell carcinoma, head and neck, somatic, 275355 (3) 19(Pten)
10.385 8 26 09 10q23.31 RPP30 P Ribonuclease P, 30kD subunit 606115 R, REc
10.386 1 30 07 10q24.2 ANKRD2, ARPP P Ankyrin repeat domain-containing protein 2 610734 R
10.387 3 28 17 10q23.32 PCGF5 P Polycomb group ring finger protein 5 617407 REc, H 19(Pcgf5)
10.388 11 1 99 10q24.2 ABCC2, CMOAT P ATP-binding cassette, subfamily C, member 2 (canalicular multispecific organic anion transporter) 601107 A Dubin-Johnson syndrome, 237500 (3) 19(Cmoat)
10.389 7 26 16 10q24 AD6 C Alzheimer disease 6 605526 Fd Alzheimer disease 6 (2)
10.390 2 23 08 10q24.32 AS3MT, CYT19 P Arsenic (+3 oxidation state) methyltransferase 611806 REc
10.391 12 17 02 10q24.31 CHUK, IKBKA, NFKBIKA, IKKA, IKK1 C Conserved helix-loop-helix ubiquitous kinase 600664 A, Psh Cocoon syndrome, 613630 (3)
10.392 4 25 13 10q24.2 COX15, CEMCOX2 C Cytochrome c oxidase, subunit 15 603646 REc, Fd Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3); Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
10.393 7 3 06 10q24.2 CUTC P CutC copper transporter, E. coli, homolog of 610101 REc
10.394 8 3 99 10q23.33 CYP2C9 C Cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9 601130 REn, H Tolbutamide poor metabolizer (3); Warfarin sensitivity, 122700 (3) 7(War)
10.395 10 14 15 10q24.1 ENTPD1, CD39, SPG64 P Ectonucleoside triphosphate diphosphohydrolase 1 (CD39 antigen) 601752 REc Spastic paraplegia 64, autosomal recessive, 615683 (3)
10.396 9 22 08 10q24.31 FAM178A, C10orf6 P Family with sequence similarity 178, member A 610348 REc
10.397 5 2 07 10q24.32 FBXW4, DAC, FBW4, FBWD4 C F-box and WD repeat domain containing 4 608071 H, REc 19(Dac)
10.398 9 28 12 10q24.32 FGF8, HH6 C Fibroblast growth factor-8 600483 H, REa, A, Fd Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3) 19(Fgf8)
10.399 6 15 99 10q24.32 GBF1 P Golgi-specific brefeldin-A resistance factor 1 603698 REa, A
10.400 3 3 03 10q23.33 HHEX, PRHX, PRH C Hematopoietically expressed homeo box 604420 REc, A
10.401 12 11 02 10q24.31 HIF1AN, FIH1 P Hypoxia-inducible factor 1-alpha inhibitor 606615 REc
10.402 1 10 12 10q23.33 LGI1, EPT, ETL1, ADLTE, ADPEAF C Leucine-rich gene, glioma-inactivated, 1 604619 Ch, Fd Epilepsy, familial temporal lobe, 1, 600512 (3)
10.403 10 26 99 10q24.32 LBX1, LBX1H P Lady bird late, Drosophila, homolog of, 1 604255 A 19(Lbx1)
10.404 2 28 03 10q24.2 LOXL4 P Lysyl oxidate-like 4 607318 REc
10.405 3 5 08 10q24.31 MRPL43 P Mitochondrial ribosomal protein L43 611848 R, REc
10.406 5 31 12 10q23.33 MYOF, FER1L3 C Myoferlin 604603 REc, REn
10.407 12 27 13 10q24.32 NFKB2, LYT10, CVID10 C Nuclear factor of kappa light chain gene enhancer in B-cells 2 (p49/p100); oncogene Lyt-10 164012 REa, A, Ch Immunodeficiency, common variable, 10, 615577 (3)
10.408 2 16 07 10q23.33 NOC3L, FAD24 P Nucleolar complex-associated 3, S. cerevisiae, homolog of 610769 REc
10.409 11 21 16 10q24.1 OPALIN, TMEM10, TMP10 P Oligodendrocytic myelin paranodal and inner loop protein 617200 REc
10.410 3 20 08 10q25.2 PDCD4 P Programmed cell death 4 608610 A
10.411 11 3 09 10q23.33 PDE6C, PDEA2, COD4 P Phosphodiesterase-6C, cGMP-specific, cone, alpha prime 600827 A Cone dystrophy 4, 613093 (3)
10.412 3 18 08 10q24.2 PI4K2A P Phosphatidylinositol 4-kinase type 2 alpha 609763 R, REc
10.413 9 12 11 10q22.2 PLAU, URK, QPD, BDPLT5 C Plasminogen activator, urokinase 191840 REa, A, Psh proximal to HOX11 {Alzheimer disease, late-onset, susceptibility to}, 104300 (3); Quebec platelet disorder, 601709 (3) 14(Plau)
10.414 2 18 98 10q24.32 PSD P Pleckstrin and Sec7 domain protein 602327 REn
10.415 6 19 15 10q23.33 RBP4, RDCCAS, MCOPCB10 C Retinol-binding protein-4, interstitial 180250 REa, A just centromeric of CYP2C cluster Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3); Microphthalmia, isolated, with coloboma 10, 616428 (3) 19(Rbp4)
10.416 8 10 10 10q24 SHFM3, SHSF3, DUP10q24, C10DUPq24 P Split-hand/foot malformation 3 (Chromosome 10q24 duplication syndrome) 246560 Fd contiguous gene duplication syndrome Split-hand/foot malformation 3, gene duplication syndrome (4)
10.417 1 12 06 10q24.2 SLC25A28, MRS4L, NPD016 P Solute carrier family 25 (mitochondrial carrier), member 28 609767 Psh, REn
10.418 5 4 09 10q24.31 TD1 P TLX1 divergent gene 612734 REc
10.419 7 17 02 10q24.31 TLX1, HOX11, TCL3 C T-cell leukemia, homeobox 1 186770 Ch, RE, H t(7;10) or t(10;4) in T-ALL
10.420 3 28 17 10q24.31 TWNK, C10orf2, TWINKLE, PEOA3, IOSCA, MTDPS7, PRLTS5 C Twinkle mtDNA helicase 606075 Fd, REc PEO digenic with POLG Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3); Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3); Perrault syndrome 5, 616138 (3)
10.421 12 10 13 10q24.33 USMG5, DAPIT P Upregulated during skeletal muscle growth 5, mouse, homolog of 615204 REc 19(Usmg5)
10.422 8 29 96 10q24.31 WNT8B P Wingless-type MMTV integration site family, member 8B 601396 Psh, A
10.423 1 13 16 10q24.1 ZDHHC16, APH2 P Zinc finger DHHC domain-containing protein 16 616750 REc
10.424 8 18 99 10q24.32 BTRC, BTRCP P Beta-transducin repeat-containing protein 603482 R, A
10.425 8 26 09 10q25.1 GSTO1 P Glutathione S-transferase, omega-1 605482 REc, REn
10.426 10 6 08 10q25.1 GSTO2 P Glutathione S-transferase, omega-2 612314 REc
10.427 2 4 99 10q24.32 LDB1, CLIM2, NLI P LIM domain-binding factor-1 603451 R, H 19(Ldb1)
10.428 3 9 00 10q24.31 PKD2L1, PKDL, PKD2L C Polycystin L 604532 A, R, REa 19(Pkdl)
10.429 11 7 17 10q24.32 SUFU, SUFUXL, SUFUH, JBTS32 C Suppressor of fused 607035 A, R Medulloblastoma, desmoplastic, 155255 (3); {Meningioma, familial, susceptibility to}, 607174 (3); Basal cell nevus syndrome, 109400 (3); Joubert syndrome 32, 617757 (3)
10.430 12 4 01 10q24.33 TAF5, TAF2D, TAFII100 P TAF5 RNA polymerase II, TATA box binding protein-associated factor, 100kD 601787 REa, A
10.431 3 7 92 10q25.2 ADRA2A, ADRA2R C Adrenergic, alpha-2A-, receptor 104210 REa, A, Fd, RE 19(Adra2)
10.432 2 23 09 10q25.3 ADRB1, ADRB1R, RHR C Adrenergic, beta-1-, receptor 109630 REa, Fd, A close linkage to ADRA2R [Resting heart rate], 607276 (3); {Congestive heart failure and beta-blocker response, modifier of} (3) 19(Adrb1)
10.433 6 6 00 10q26.13 BUB3 P Budding uninhibited by benzimidazoles 3, S. cerevisiae, homolog of 603719 R
10.434 1 13 99 10q25.2 GPAM L Glycerol-3-phosphate acyltransferase 602395 H 19(Gpam)
10.435 1 10 02 10q24.32 NPM3 P Nucleophosmin/nucleoplasmin family, member 3 606456 REc 19(Npm3)
10.436 11 20 98 10q25.3 NRAP P Nebulin-related anchoring protein 602873 R, H 19(Nrap)
10.437 5 29 12 10q26.11 GRK5, GPRK5 P G protein-coupled receptor kinase 5 600870 REa
10.438 12 7 07 10q24.1 ARHGAP19 P RHO GTPase-activating protein 19 611587 REc
10.439 6 1 12 10q24.1 EXOSC1, CSL4 P Exosome component 1 606493 REc
10.440 12 30 14 10q23.31 FAS, TNFRSF6, APT1, CD95, ALPS1A C Fas cell surface death receptor 134637 A {Autoimmune lymphoproliferative syndrome}, 601859 (3); Squamous cell carcinoma, burn scar-related, somatic (3); Autoimmune lymphoproliferative syndrome, type IA, 601859 (3) 19(Fas1)
10.441 8 27 01 10q24.1 FRAT2 P Frequently rearranged in advanced T-cell lymphomas 2 605006 REc
10.442 2 18 08 10q24.1 LCOR, MLR2, KIAA1795 C Ligand-dependent nuclear receptor corepressor 607698 R, REc
10.443 8 31 12 10q24.1 MMS19, MMS19L P MMS19 nucleotide excision repair, S. Cerevisiae, homolog of 614777 A, REc, R
10.444 9 20 14 10q24.1 PIK3AP1, BCAP, FLJ35564 P Phosphoinositide 3-kinase adaptor protein 1 607942 R, REc
10.445 10 25 17 10q24.1 RRP12, KIAA0690 C Ribosomal RNA-processing protein 12, S. cerevisiae, homolog of 617723 REc, R
10.446 10 22 99 10q24.2 SFRP5, SARP3 P Secreted frizzled-related protein 5 604158 A, R, Psh
10.447 12 10 13 10q24.1 SLIT1, SLIL1, MEGF4 P Slit, Drosophila, homolog of, 1 603742 Psh, REc
10.448 9 10 12 10q24.1 TCTN3, TECT3, C10orf61, OFD4, JBTS18 P Tectonic family, member 3 613847 REc Orofaciodigital syndrome IV, 258860 (3); Joubert syndrome 18, 614815 (3)
10.449 3 24 16 10q24.1 TM9SF3, SMBP P Transmembrane 9 superfamily, member 3 616872 REc
10.450 10 25 17 10q24.1 ZNF518A, KIAA0335 C Zinc finger protein 518A 617733 R, REc
10.451 6 1 15 10q24.1-q24.2 UBTD1 P Ubiquitin domain-containing protein 1 616388 REc
10.452 11 24 15 10q23.33 CYP2C, CYP2C19 C Cytochrome P450, subfamily IIC (mephenytoin 4'-hydroxylase) 124020 REa, A 4 genes in order: cen-C18-C19-C9-C8-tel Mephenytoin poor metabolizer, 609535 (3); Omeprazole poor metabolizer, 609535 (3); Proguanil poor metabolizer, 609535 (3); Clopidogrel, impaired responsiveness to, 609535 (3) 19(P4502c)
10.453 8 31 99 10q24.32 MGEA5 P Meningioma-expressed antigen 5 604039 Psh, A
10.454 7 25 12 10q24.1-q25.1 CMTDIA P Charcot-Marie-Tooth disease, dominant intermediate A 606483 Fd Charcot-Marie-Tooth disease, dominant intermediate A (2)
10.455 1 18 12 10q24.2 GOT1, ASTQTL1 C Glutamic-oxaloacetic transaminase-1, soluble (EC 2.6.1.1) 138180 S, D, H, A 10q26.1 = conflicting localization Aspartate aminotransferase, serum level of, QTL1, 614419 (3) 19(Got1)
10.456 3 10 03 10q24.2 CPN1, SCPN, CPN C Carboxypeptidase N, polypeptide 1, 50-kD 603103 Psh, R Carboxypeptidase N deficiency, 212070 (3)
10.457 5 26 13 10q24.2 DNMBP, TUBA, KIAA1010 P Dynamin-binding protein 611282 R, REc 19(Dnmbp)
10.458 12 17 12 10q24.2 HOGA1, DHDPSL, HP3 P 4-hydroxy-2-oxoglutarate aldolase 1 613597 REc Hyperoxaluria, primary, type III, 613616 (3)
10.459 6 26 16 10q24.2 MARVELD1, MARVD1 P Marvel domain-containing protein 1 616970 REc
10.460 10 25 17 10q24.2 MORN4, RTP, UTA P MORN repeat-containing protein 4 617736 REc
10.461 6 16 08 10q24.2 NKX2C, NK2.3, CSX3 P NK2, Drosophila, homolog of, C 606727 REc
10.462 3 1 18 10q24.2 PYROXD2, C10orf33, YUEF P Pyridine nucleotide-disulphide oxidoreductase domain-containing protein 2 617889 REc
10.463 4 27 12 10q24.2 ZFYVE27, SPG33 P Zinc finger FYVE domain-containing protein 27 610243 REc Spastic paraplegia 33, autosomal dominant, 610244 (3)
10.464 6 30 16 10q25.1-q25.2 ADD3, ADDL, CPSQ3 C Adducin-3, gamma 601568 A, Ch fusion with NUP98 in T-ALL Cerebral palsy, spastic quadriplegic, 3, 617008 (3)
10.465 4 26 17 10q24.32 PPRC1, PRC, KIAA0595 C Peroxisome proliferator-activated receptor-gamma, coactivator-related protein 1 617462 REc
10.466 10 7 08 10q24.33 PDCD11, ALG4, NFBP, KIAA0185 P Programmed cell death 11 612333 A
10.467 10 23 15 10q24.1 ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3 C Aldehyde dehydrogenase 18 family, member A1 (1-pyrroline-5-carboxylate synthetase) 138250 S, A GOT1 and GSAS in same pathway Cutis laxa, autosomal recessive, type IIIA, 219150 (3); Spastic paraplegia 9A, autosomal dominant, 601162 (3); Spastic paraplegia 9B, autosomal recessive, 616586 (3); Cutis laxa, autosomal dominant 3, 616603 (3)
10.468 9 24 15 10q25.1 COL17A1, BPAG2, ERED C Collagen XVII, alpha-1 polypeptide 113811 A, H Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3); Epidermolysis bullosa, junctional, localisata variant, 226650 (3); Epithelial recurrent erosion dystrophy, 122400 (3) 19(Bpag2)
10.469 8 9 05 10q24.32 CYP17A1, CYP17, P450C17 C Cytochrome P450, family 17, subfamily A, polypeptide 1 (steroid 17-alpha-hydroxylase) 609300 REa, H, A at least 2 genes; distal to GOT1 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3); 17,20-lyase deficiency, isolated, 202110 (3) 19(Cyp17)
10.470 5 24 13 10q24.31 LZTS2, KIAA1813, LAPSER1 P Leucine zipper, putative tumor suppressor 2 610454 REc
10.471 10 14 15 10q24.32-q24.33 NT5C2, NT5B, PNT5, SPG45 P 5' nucleotidase, cytosolic II 600417 R, REc Spastic paraplegia 45, autosomal recessive, 613162 (3)
10.472 3 8 12 10q24.31 PDZD7 P PDZ domain-containing 7 612971 REc {Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3); Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)
10.473 3 30 12 10q24.31 SEC31B, SEC31L2 P Sec31, yeast, homolog of, B 610258 REc
10.474 7 10 02 10q24.32 TRIM8, RNF27, GERP P Tripartite motif-containing 8 606125 REc
10.475 10 23 15 10q24.31 PAX2, PAPRS, FSGS7 C Paired box homeotic gene-2 167409 REa, A Papillorenal syndrome, 120330 (3); Glomerulosclerosis, focal segmental, 7, 616002 (3) 19(Pax2)
10.476 8 28 97 10q26.3 CYP2E, CYP2E1, P450C2E C Cytochrome P450, subfamily IIE, ethanol-inducible 124040 REa 7(Cyp2e)
10.477 12 28 08 10q24.31 BLOC1S2, BLOS2 P Biogenesis of lysosome-related organelles complex 1, subunit 2 609768 R
10.478 8 23 16 10q24.31 CWF19L1, C19L1, SCAR17 P CWF19-like protein 1 616120 REc Spinocerebellar ataxia, autosomal recessive 17, 616127 (3)
10.479 5 23 16 10q24.31 ERLIN1, SPG62 P Endoplasmic reticulum lipid raft-associated protein 1 611604 R, REc Spastic paraplegia 62, 615681 (3)
10.480 2 25 15 10q24.31 OLMALINC, LINC00263, OLMALINCAS P Oligodendrocyte maturation-associated long intergenic noncoding RNA 616240 REc OLMALINCAS is on opposite strand overlapping exon 1 of OLMALINC
10.481 8 26 09 10q24.31 SCD P Stearoyl-CoA desaturase 604031 REa, REc pseudogene on chr.17 19(ab)
10.482 12 27 13 10q24.31 SFXN3 P Sideroflexin 3 615571 REc
10.483 4 2 16 10q24.31 SNORA12 P Small nucleolar RNA, H/ACA box, 12 611330 REc in intron 11 of CWF19L1
10.484 8 31 12 10q24.32 ACTR1A, ARP1 P Actin-related protein 1A 605143 REc
10.485 10 23 15 10q24.32 BORCS7, C10orf32 P BLOC1-related complex, subunit 7 616600 REc
10.486 9 10 07 10q24.32 C10orf26, OPAL1 P Chromosome 10 open reading frame 26 611129 R, REc
10.487 8 6 11 10q24.32 CUEDC2 P Cue domain-containing protein 2 614142 REc
10.488 7 28 15 10q24.32 DPCD P Deleted in primary ciliary dyskinesia, mouse, homolog of 616467 REc, H 19(Dpcd)
10.489 2 23 08 10q24.32 ELOVL3, CIG30 P Elongation of very long chain fatty acids-like 3 611815 REc
10.490 5 24 13 10q24.32 FBXL15, JET P F-box and leucine-rich repeat protein 15 610287 REc
10.491 1 29 03 10q24.32 HPS6, RU P HPS gene 6 607522 REc Hermansky-Pudlak syndrome 6, 614075 (3) 19(ru)
10.492 5 26 13 10q24.32 MIR146B P Micro RNA 146B 610567 REc
10.493 10 2 12 10q24.32 NOLC1, p130, NOPP140 P Nucleolar and coiled-body phosphoprotein 1 602394 REc
10.494 12 27 13 10q24.32 SFXN2 P Sideroflexin 2 615570 REc
10.495 11 14 12 10q24.32-q25.1 ECTD5 P Ectodermal dysplasia 5, hair/nail type 614927 Fd between D10S1239 and D10S1264 Ectodermal dysplasia 5, hair/nail type (2)
10.496 9 8 08 10q24.33 CALHM1, FAM26C P Calcium homeostasis modulator 1 612234 REc ?Alzheimer disease, 605526
10.497 9 8 08 10q24.33 CALHM2, FAM26B P Calcium homeostasis modulator 2 612235 REc
10.498 6 17 15 10q24.32 CNNM2, ACDP2, HOMG6, HOMGSMR C Cyclin M2 607803 R, REc Hypomagnesemia 6, renal, 613882 (3); Hypomagnesemia, seizures, and mental retardation, 616418 (3) 19(Cnnm2)
10.499 1 27 11 10q22.1 DDIT4, REDD1, RTP801 P DNA damage-inducible transcript 4 607729 REc
10.500 2 10 17 10q24.33 STN1, OBFC1, AAF44 P STN1, CST complex subunit 613128 REc Cerebroretinal microangiopathy with calcifications and cysts 2, 617341 (3) 19(Obfc1)
10.501 12 28 08 10q24.33 PCGF6, RNF134, MBLR P Polycomb group ring finger 6 607816 R, REc
10.502 9 24 15 10q24.3-q25.1 SLK, LOSK, KIAA0204 C STE20-like protein kinase 616563 R, REc
10.503 11 13 15 10q25.2 SMC3, CSPG6, HCAP, BAM, CDLS3 P Structural maintenance of chromosomes 3 606062 R, H Cornelia de Lange syndrome 3, 610759 (3) 19(Bam)
10.504 11 4 98 10q25.2 DUSP5, HVH3 P Dual-specificity phosphatase-5 603069 A
10.505 12 9 98 10q25 IDDM17 P Insulin-dependent diabetes mellitus-17 603266 Fd {Diabetes mellitus, insulin-dependent, 17} (2)
10.506 2 18 98 10q25.3 LIMAB1 P LIM actin-binding protein-1 602330 A, R 19(Limab1)
10.507 11 29 99 10q25.2 MXI1 C MAX-interacting protein 1 600020 A, D Neurofibrosarcoma (3); {Prostate cancer, susceptibility to}, 176807 (3) 19(Mxi1)
10.508 1 26 17 10q24.32 PITX3, CTPP4, CTRCT11, ASGD1 C Paired-like homeodomain transcription factor-3 602669 R Anterior segment dysgenesis 1, multiple subtypes, 107250 (3); Cataract 11, multiple types, 610623 (3); Cataract 11, syndromic, 610623 (3) 19(Pitx3)
10.509 10 12 09 10q25.2 SHOC2, SIAA0862, SOC2, SUR8 P Suppressor of clear, C. elegans, homolog of 602775 A Noonan-like syndrome with loose anagen hair, 607721 (3)
10.510 9 29 96 10q25.3 SLC18A2, VAT2, SVMT C Solute carrier family 18 (vesicular monoamine), member 2 193001 REa, A 19(Slc18a2)
10.511 5 19 06 10q26.13 ACADSB, SBCAD P Acyl-Coenzyme A dehydrogenase, short/branched chain 600301 REa, A 2-methylbutyrylglycinuria, 610006 (3)
10.512 12 2 05 10q25-q26 EIG4 P Epilepsy, idiopathic generalized, susceptibility to 4 609750 Fd between D16S397 and D16S3095 {Epilepsy, idiopathic generalized, susceptibility to 4} (2)
10.513 9 1 15 10q25.3 HABP2, PHBP, HGFAL, FSAP, NMTC5 P Hyaluronan-binding protein 2 603924 A mutation identified in 1 NMTC5 family {?Thyroid cancer, nonmedullary, 5}, 616535 (3); {Venous thromboembolism, susceptibility to}, 188050 (3)
10.514 12 14 00 10q26.11 PRDX3, AOP1 P Peroxiredoxin 3 (antioxidant protein 1) 604769 A 19(Aop1)
10.515 10 15 91 10q26.2 MKI67 P Proliferation-related Ki-67 antigen 176741 S, REa, A 7(Mki67)
10.516 7 24 17 10q25.1 CFAP43, WDR96, C10orf79, SPGF19 P Cilia- and flagella-associated protein 43 617558 REc Spermatogenic failure 19, 617592 (3)
10.517 12 28 08 10q25.3 DCLRE1A, SNM1, SNM1A, KIAA0086 P DNA cross-link repair protein 1A 609682 Psh, REc
10.518 7 17 14 10q24.33 NEURL1, NEURL, NEUR1 P Neuralized E3 ubiquitin protein ligase 1 603804 R, A
10.519 8 26 15 10q25.1 SFR1, MEI5, C10orf78 P SWI5-dependent homologous recombination repair protein 1 616527 REc
10.520 9 18 08 10q25.2 ACSL5, FACL5, ACS5 P Acyl-CoA synthetase long-chain family member 5 605677 REc
10.521 7 1 97 10q25.3 CASP7, MCH3 P Caspase 7, apoptosis-related cysteine protease 601761 R
10.522 10 24 14 10q25.2 BBIP1, NCRNA00081, BBIP10, BBS18 P BBSome interacting protein 1 613605 REc mutation identified in 1 BBS18 family ?Bardet-Biedl syndrome 18, 615995 (3)
10.523 12 21 09 10q25.2 RBM20 P RNA-binding motif protein 20 613171 REc Cardiomyopathy, dilated, 1DD, 613172 (3)
10.524 11 10 14 10q25.2 VTI1A, VTI1RP2, MMDS3 P VTI1, S. cerevisiae, homolog of, A 614316 REc
10.525 1 27 04 10q26.3 DPYSL4, CRMP3, ULIP4 P Dihydropyrimidinase-like 4 608407 A, H 7(Ulip4)
10.526 8 6 13 10q26.11 BAG3, MFM6 P BCL2-associated athanogene 3 603883 REc Myopathy, myofibrillar, 6, 612954 (3); Cardiomyopathy, dilated, 1HH, 613881 (3)
10.527 9 27 17 10q25.2 TECTB P Tectorin, beta 602653 REc
10.528 3 20 97 10q26.13 HMX2 P Homeo box (H6 family) 2 600647 REa
10.529 5 14 02 10q26.2 UROS P Uroporphyrinogen III synthase 606938 REa, Psh Porphyria, congenital erythropoietic, 263700 (3) 7(Uros)
10.530 12 18 08 10q25.3 AFAP1L2, XB130, KIAA1914 P Actin filament-associated protein 1-like protein 2 612420 A, REc
10.531 1 26 17 10q25.3 FAM160B1, KIAA1600 P Family with sequence similarity 160, member B1 617312 REc
10.532 8 19 13 10q25.3 KIAA1598, SHOOTIN1 P Kiaa1598 gene 611171 REc, R
10.533 11 22 10 10q25.3 KCNK18, TRESK, TRIK, MGR13 P Potassium channel, subfamily K, member 18 613655 REc, H {Migraine, with or without aura, susceptibility to, 13}, 613656 (3) 19(Kcnk18)
10.534 6 5 89 10q24.1 PGAM1 P Phosphoglycerate mutase A, nonmuscle form 172250 D, H 19(Pgam1)
10.535 3 18 12 10q25.3 PNLIPRP1, PLRP1 P Pancreatic lipase-related protein 1 604422 REc
10.536 8 23 10 10q25.3 PNLIPRP2, PLRP2 P Pancreatic lipase-related protein 2 604423 REc
10.537 7 3 06 10q25.2-q25.3 TCF7L2, TCF4 C Transcription factor 7-like 2 602228 A, Fd {Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
10.538 8 26 09 10q25.3 TDRD1 P Tudor domain protein 1 605796 R, REc
10.539 1 29 07 10q25.3 TRUB1, PUS4 P TRUB pseudouridine synthase, E. coli, homolog of, 1 610726 REc
10.540 10 11 05 10q25.1 XPNPEP1, SAMP, XPNPEPL C X-prolyl aminopeptidase P1 602443 A, REa
10.541 11 5 95 10q26.11 GPR10 P G protein-coupled receptor-10 600895 A
10.542 10 29 09 10q26.13 DMBT1 P Deleted in malignant brain tumors 1 601969 D
10.543 9 21 11 10q25.3-q26.1 PDZD8 P PDZ domain-containing protein 8 614235 REc
10.544 3 11 08 10q26.2 BCCIP, TOK1 P BRCA2- and CDKN1A-interacting protein 611883 A, REc
10.545 2 3 16 10q26.13 HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2 P HTRA serine peptidase 1 602194 A {Macular degeneration, age-related, 7}, 610149 (3); {Macular degeneration, age-related, neovascular type}, 610149 (3); CARASIL syndrome, 600142 (3); Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3)
10.546 2 25 16 10q26.13 PLEKHA1, TAPP1 C Pleckstrin homology domain-containing protein, family A, member 1 607772 REc
10.547 8 20 98 10q25.3-q26.3 ADORA2L1, ADORA2L P Adenosine A2 receptor-like 1 102777 A
10.548 7 20 09 10q25.3 ATRNL1, KIAA0534, ALP P Attractin-like 1 612869 R, REc
10.549 7 1 09 10q26.11 CASC2 P Cancer susceptibility candidate 2 608598 REc head-to-head orientation with RAB11FIP2
10.550 9 7 10 10q26.13 CHST15, BRAG, KIAA0598 C Carbohydrate sulfotransferase 15 608277 R, REa
10.551 4 7 13 10q26 CORD17 P Cone-rod dystrophy 17 615163 Fd between D10S1757 and D10S1782 Cone-rod dystrophy 17 (2)
10.552 11 16 08 10q26 DEL10q26, C10q26DEL P Chromosome 10q26 deletion syndrome 609625 Ch Chromosome 10q26 deletion syndrome (4)
10.553 4 30 09 10q26.2 DHX32, DDX32 P DEAH (Asp-Glu-Ala-His) box polypeptide 32 607960 REc
10.554 10 3 07 10q26.11 EIF3A, EIF3S10, P167 P Eukaryotic translation initiation factor 3, subunit A 602039 REc, A
10.555 9 1 05 10q26 ENDO1 P Endometriosis, susceptibility to, 1 131200 Fd max lod at D10S587 {Endometriosis, susceptibility to, 1} (2)
10.556 2 19 04 10q26.13 FGFR2, BEK, CFD1, JWS, TK14, BBDS C Fibroblast growth factor receptor-2 (bacteria-expressed kinase) 176943 A, Psh, Fd Crouzon syndrome, 123500 (3); Jackson-Weiss syndrome, 123150 (3); Beare-Stevenson cutis gyrata syndrome, 123790 (3); Pfeiffer syndrome, 101600 (3); Apert syndrome, 101200 (3); Saethre-Chotzen syndrome, 101400 (3); Craniosynostosis, nonspecific (3); Gastric cancer, somatic, 613659 (3); Craniofacial-skeletal-dermatologic dysplasia, 101600 (3); Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3); Scaphocephaly and Axenfeld-Rieger anomaly (3); LADD syndrome, 149730 (3); Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3); Bent bone dysplasia syndrome, 614592 (3) 7(Fgfr2)
10.557 6 29 98 10q25.3 GFRA1, GDNFRA, GDNFR C GDNF family receptor, alpha-1 601496 A, R 19(Gfra1)
10.558 9 12 93 10q26.3 MGMT C Methylguanine-DNA methyltransferase 156569 REa, A
10.559 7 28 17 10q26.3 NKX6-2, NKX6B, NKX6.2, SPAX8 P NK6 transcription factor related, locus 2 (Drosophila) 605955 REc, R Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3) 7(Nkx6b)
10.560 4 20 10 10q26.13 OAT, GACR C Ornithine aminotransferase 613349 S, REa, A, Fd pseudogene at Xp11.2 Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3) 7(Oat)
10.561 5 7 01 10q23.33 PDLIM1, CLP36, CLIM1 P PDZ and LIM domain protein 1 605900 A, R, REa
10.562 1 1 96 10q26.2 PTPRE C Protein tyrosine phosphatase, receptor type, epsilon 600926 A 7(Ptpre)
10.563 12 29 06 10q26.11 RAB11FIP2, KIAA0941 P RAB11 family-interacting protein 2 608599 REc
10.564 1 25 05 10q26 RRIS P Respiratory rhythmicity in sleep 609116 Fd [Respiratory rhythmicity in sleep] (2)
10.565 1 31 01 10q26.13 TACC2 P Transforming, acidic, coiled-coil-containing protein 2 605302 REc
10.566 8 17 99 10q26.3 UTF1 P Undifferentiated embryonic cell transcription factor 1 604130 A 7(Utf1)
10.567 10 11 12 10q26.12 WDR11, DR11, KIAA1351, BRWD2, HH14 P WD repeat-containing protein 11 606417 REc, Ch Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
10.568 4 15 02 10q26.11 EMX2 P Empty spiracles, Drosophila, homolog of, 2 600035 REa, A close to VAX1 Schizencephaly, 269160 (3) 19(Emx2)
10.569 5 23 14 10q26.3 JAKMIP3, C10orf39, NECC2, JAMIP3 P Janus kinase and microtubule interacting protein 3 611198 REc
10.570 3 20 03 10q26.11 EMX2OS P EMX2 opposite strand 607637 REc non-coding RNA 19(Emx2os)
10.571 5 30 17 10q25.3 PNLIP, PNLIPD P Pancreatic lipase 246600 REa, A mutation identified in 1 family ?Pancreatic lipase deficiency, 614338 (3)
10.572 2 2 15 10q25.3 VAX1, MCOPS11 P Ventral anterior homeo box 1 604294 H, REc mutation identified in one MCOPS11 family ?Microphthalmia, syndromic 11, 614402 (3) 19(Vax1)
10.573 12 6 16 10q26.11 INPP5F, SAC2, KIAA0966 P Inositol polyphosphate 5-phosphatase F 609389 REc
10.574 4 17 07 10q26.11 MCMBP, C10orf119 P Minichromosome maintenance complex-binding protein 610909 R, REc
10.575 9 23 13 10q26.11 NANOS1, NOS1, SPGF12 P NANOS, Drosophila, homolog of, 1 608226 R, REc Spermatogenic failure 12, 615413 (3)
10.576 1 2 14 10q26.11 SFXN4, COXPD18 C Sideroflexin 4 615564 REc Combined oxidative phosphorylation deficiency 18, 615578 (3)
10.577 1 25 18 10q26.11-q26.12 SEC23IP P Sec23-interacting protein 617852 REc
10.578 1 16 07 10q25.3 HSPA12A, KIAA0417 P Heat-shock 70kD protein 12A 610701 R, REc 19(Hspa12a)
10.579 2 10 17 10q26.13 CPXM2, CPX2 P Carboxypeptidase X, M14 family, member 2 617348 REc
10.580 4 23 08 10q26.13 CTBP2 P C-terminal-binding protein 2 602619 REc
10.581 11 20 15 10q26.13 CUZD1, ERG1, ITMAP1 P Cub and zona pellucida-like domains 1 616644 REc
10.582 12 6 17 10q26.13 EEF1AKMT2, METTL10 P EEF1A lysine methyltransferase 2 617794 REc
10.583 1 9 17 10q26.13 FAM53B, KIAA0140 C Family with sequence similarity 53, member B 617289 Psh, REc
10.584 4 23 09 10q26.13 FAM175B, ABRO1, KIAA0157 P Family with sequence similarity 175, member B 611144 Psh, REc
10.585 4 26 10 10q26.13 HMX3, NKX5.1 P H6 family homeobox 3 613380 REc 7(Hmx3)
10.586 9 27 17 10q26.13 IFZF5, ZNFN1A5, PEGASUS P Ikaros family zinc finger 5 606238 REc
10.587 12 5 16 10q26.13 LHPP P Phospholysine phosphohistidine inorganic pyrophosphate phosphatase 617231 REc
10.588 3 10 11 10q26.13 LOC387715, ARMD8 P LOC387715 gene 611313 REc, Fd {Macular degeneration, age-related, 8}, 613778 (3)
10.589 1 20 16 10q26.2 MMP21, HTX7 P Matrix metalloproteinase 21 608416 REc Heterotaxy, visceral, 7, autosomal, 616749 (3)
10.590 9 9 09 10q26.13 NSMCE4A, NSE4A P Non-SMC element 4, S. cerevisiae, homolog of, A 612987 REc
10.591 4 6 15 10q26.13 PSTK, C10orf89 P Phosphoseryl-tRNA kinase 611310 R, REc
10.592 1 23 08 10q26.13 ZRANB1, TRABID P Zinc finger- and RAN-binding domain-containing protein 1 611749 R, REc
10.593 6 3 98 10q26.2 DOCK1, DOCK180 P Dedicator of cytokinesis-1 601403 A
10.594 10 25 17 10q26.2 C10orf90, FATS P Chromosome 10 open reading frame 90 617735 REc
10.595 9 26 16 10q26.2 FAM196A, C10orf141, INSYN2 P Family with sequence similarity 196, member A 617129 REc
10.596 12 18 07 10q26.2 FANK1 P Fibronectin type III and ankyrin repeat domains 1 611640 R, REc
10.597 11 23 16 10q26.2 FOXI2 P Forkhead box I2 617202 REc
10.598 8 17 09 10q26.2 NPS P Neuropeptide S 609513 REc
10.599 3 27 15 10q26.3 ECHS1, SCEH, ECHS1D P Enoyl-CoA hydratase, short-chain, 1, mitochondrial 602292 A Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
10.600 5 11 00 10q26.13 GPR26 P G protein-coupled receptor 26 604847 A
10.601 7 13 98 10q26.3 ADAM8, CD156 P A disintegrin and metalloprotease domain 8 602267 A 7(Adam8)
10.602 12 11 98 10q26.2 ADAM12, MLTN P A disintegrin and metalloproteinase domain 12 (Meltrin-alpha, mouse, homolog of) 602714 A, R
10.603 9 1 16 10q26.3 ADGRA1, GPR123, KIAA1828 P Adhesion G protein-coupled receptor A1 612302 REc
10.604 6 10 11 10q26.3 BNIP3, NIP3 P BCL2/adenovirus E1B 19-kD protein-interacting protein 3 603293 REc
10.605 6 27 14 10q26.3 CALY, DRD1IP P Calcyon neuron-specific vesicular protein 604647 REc
10.606 2 9 17 10q26.3 EBF3, COE3, HADDS P Early B-cell factor 3 607407 REc Hypotonia, ataxia, and delayed development syndrome, 617330 (3)
10.607 10 25 17 10q26.3 FUOM, FUCU P Fucose mutarotase 617725 REc
10.608 5 12 09 10q26.3 GLRX3, PICOT P Glutaredoxin 3 612754 REc
10.609 1 20 98 10q26.3 INPP5A P Inositol polyphosphate-5-phosphatase, 40kD 600106 A
10.610 2 25 15 10q26.3 KNDC1, RASGEF2, KIAA1768 P Kinase noncatalytic C-lobe domain-containing protein 1 616237 R, REc
10.611 7 18 14 10q26.3 PAOX, PAO P Polyamine oxidase 615853 REc 7(Paox)
10.612 9 8 11 10q26.3 PPP2R2D P Protein phosphatase 2, regulatory subunit B, delta 613992 REc
10.613 12 20 05 10q26.3 PRAP1 P Proline-rich acidic protein 1 609776 R, REc
10.614 12 3 04 10q26.3 OMS P Otitis media susceptibility to 166760 Fd also 19q, 3p {Otitis media, susceptibility to} (2)
10.615 12 1 06 10q26.3 SPRN, SHADOO, SHO P Shadow of prion protein 610447 REc 7(Sprn)
10.616 5 23 16 10q26.3 SYCE1, POF12, SPGF15 P Synaptonemal complex central element protein 1 611486 REc mutation identified in 1 POF12 and 1 SPGF15 family ?Premature ovarian failure 12, 616947 (3); ?Spermatogenic failure 15, 616950 (3)
10.617 12 22 17 10q26.3 TUBGCP2, GCP2, GRIP103, SPC97, ALP4 P Tubulin-gamma complex-associated protein 2 617817 REc
10.618 6 12 12 10q26.3 VENTX, VENTX2, HPX42B P VENT homeobox 607158 A
11.1 2 22 18 11q14.1 ALG8, CDG1H, PCLD3 P Alg8, S. cerevisiae, homolog of 608103 REc Congenital disorder of glycosylation, type Ih, 608104 (3); Polycystic liver disease 3 with or without kidney cysts, 617874 (3)
11.2 12 11 01 11p15.2 RRAS2, TC21 P Related Ras viral oncogene homolog 2 600098 R Ovarian carcinoma (3)
11.3 7 20 09 11p15.4 AMPD3 P Adenosine monophosphate deaminase-3, isoform E 102772 REa [AMP deaminase deficiency, erythrocytic], 612874 (3) 7(Ampd3)
11.4 5 4 12 11p13 CD44, MDU2, MDU3, MIC4, IN P CD44 antigen (homing function) 107269 S [Blood group, Indian system], 609027 (3) 2(Ly24)
11.5 3 6 94 11pter-p11.2 TP250 P T-cell activation antigen p250 186710 S
11.6 5 12 08 11p15.5 AP2A2, KIAA0899 P Adaptor-related protein complex 2, alpha-2 subunit 607242 R, REc
11.7 8 4 97 11p15.5 ASCL2 P Achaete-scute complex, Drosophila, homolog-like 2 601886 A
11.8 9 23 13 11p15.5 BET1L, GS15 P BET1-like protein 615417 REc
11.9 5 23 13 11p15.5 BRSK2, SAD1, PEN11B P BR serine/threonine kinase 2 609236 A
11.10 8 20 07 11p15.5 C11orf21 P Chromosome 11 open reading frame 21 611033 REc
11.11 11 4 93 11p15.4 CARS P Cysteinyl-tRNA synthetase 123859 REa, A
11.12 7 20 06 11p15.5 CD151, PETA3, SFA1, MER2 C CD151 antigen 602243 A, S, REa Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3); [Blood group, Raph], 179620 (3)
11.13 12 10 10 11p15.5 CDHR5, MUCDHL P Cadherin-related family, member 5 606839 REc
11.14 7 20 12 11p15.4 CDKN1C, KIP2, BWS, IMAGE C Cyclin-dependent kinase inhibitor 1C (p57, Kip2) 600856 A, Ch, Fd rare cause of BWS Beckwith-Wiedemann syndrome, 130650 (3); IMAGE syndrome, 614732 (3) 7(Kip2)
11.15 12 19 11 11p15.5 CEND1, BM88 P Cell cycle exit and neuronal differentiation 1 608213 REc, A
11.16 3 14 14 11p15.5 CHID1, SICLP P Chitinase domain-containing protein 1 615692 REc
11.17 11 28 01 11p15.4 CHRNA10 P Cholinergic receptor, neuronal nicotinic, alpha polypeptide 10 606372 A, R
11.18 5 31 06 11p15.5 CTSD, CPSD, CLN10 C Cathepsin D (lysosomal aspartyl protease) 116840 REa, A Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
11.19 11 15 16 11p15.5 DEAF1, SPN, ZMYND5, MRD24 P Deaf1, Drosophila, homolog of 602635 REc mutation identified in 1 DYSEIDD family Mental retardation, autosomal dominant 24, 615828 (3); ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 (3)
11.20 11 16 10 11p15.5 DRD4 C Dopamine receptor D4 126452 Fd proximal to HRAS Autonomic nervous system dysfunction (3); [Novelty seeking personality], 601696 (1); {Attention deficit-hyperactivity disorder}, 143465 (3)
11.21 3 9 98 11p15.5 DUSP8, HVH8 P Dual specificity phosphatase-8 602038 A pseudogene on 10q11.2 7(Dusp8)
11.22 9 6 11 11p15.5 EFCAB4A, CRACR2B P EF-hand calcium-binding domain-containing protein 4A 614177 REc
11.23 7 23 09 11p15.5 H19, D11S813E, ASM1, BWS, WT2 C H19 gene 103280 REa, A, RE same 200kb fragment as IGF2 Beckwith-Wiedemann syndrome, 130650 (3); Silver-Russell syndrome, 180860 (3); Wilms tumor 2, 194071 (3) 7(H19)
11.24 4 23 08 11p15.5 HCCA2 P HCCA2 gene 611969 REc
11.25 2 3 15 11p15.5 ICR1 P H19-IGF2-imprinting control region 616186 REn Beckwith-Wiedemann syndrome, 130650 (3)
11.26 8 9 12 11p15.5 IFITM1, IFI17, LEU13 P Interferon-induced transmembrane protein 1 604456 R, REc
11.27 8 9 12 11p15.5 IFITM2 P Interferon-induced transmembrane protein 1 605578 R, REc
11.28 7 20 12 11p15.5 IFITM3 P Interferon-induced transmembrane protein 3 605579 R, REc {Influenza, severe, susceptibility to}, 614680 (3)
11.29 9 21 12 11p15.5 IFITM5, OI5 P Interferon-induced transmembrane protein 5 614757 REc Osteogenesis imperfecta, type V, 610967 (3)
11.30 5 13 15 11p15.5 IRF7, IRF7A, IRF7B, IRF7C, IRF7H, IMD39 P Interferon regulatory factor 7 605047 REc mutation identified in 1 family ?Immunodeficiency 39, 616345 (3)
11.31 10 28 10 11p15.5-p15.4 KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2 C Potassium voltage-gated channel, KQT-like subfamily, member 1 607542 Fd Long QT syndrome 1, 192500 (3); Jervell and Lange-Nielsen syndrome, 220400 (3); Atrial fibrillation, familial, 3, 607554 (3); Short QT syndrome 2, 609621 (3); {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3) 7(Kcnq1)
11.32 8 25 03 11p15.4 LCRB C Locus control region beta 152424 REc Thalassemia, Hispanic gamma-delta-beta, 613985 (3)
11.33 9 9 09 11p15.5 MIR210, MIRN210 P Micro RNA 210 612982 REc
11.34 3 31 09 11p15.4 MRGPRG, MRGG P MAS-related G protein-coupled receptor family, member G 607234 REc
11.35 8 28 92 11p15.5 MUC2 C Mucin 2, intestinal/tracheal 158370 REa
11.36 6 13 95 11p15.5 MUC5AC, MUC5 C Mucin 5, subtypes A and C, tracheobronchial/gastric 158373 REa, A
11.37 2 28 13 11p15.4 HBB C Hemoglobin beta 141900 LD, AAS, F, Fd pseudogene HBBP1 between HBG and HBD loci Sickle cell anemia, 603903 (3); Thalassemias, beta-, 613985 (3); Erythremias, beta- (3); Methemoglobinemias, beta- (3); Heinz body anemias, beta-, 140700 (3); Thalassemia-beta, dominant inclusion-body, 603902 (3); Hereditary persistence of fetal hemoglobin, 141749 (3); Delta-beta thalassemia, 141749 (3); {Malaria, resistance to}, 611162 (3) 7(Hbb)
11.38 6 16 97 11p15.4 HBD C Hemoglobin delta 142000 AAS Thalassemia, delta- (3); Thalassemia due to Hb Lepore (3)
11.39 11 13 07 11p15.4 HBG1 C Hemoglobin, gamma A 142200 RE Fetal hemoglobin quantitative trait locus 1, 141749 (3)
11.40 6 15 11 11p15.4 HBG2, TNCY C Hemoglobin, gamma G 142250 RE Fetal hemoglobin quantitative trait locus 1, 141749 (3); Cyanosis, transient neonatal, 613977 (3)
11.41 3 1 89 11p15.4 HBE1 C Hemoglobin epsilon 142100 RE
11.42 6 18 15 11p15.5 HRAS C Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog 190020 S pseudogene HRASP on X {Bladder cancer, somatic}, 109800 (3); Costello syndrome, 218040 (3); {Thyroid carcinoma, follicular, somatic}, 188470 (3); Congenital myopathy with excess of muscle spindles, 218040 (3); {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) 7(Hras1)
11.43 7 28 15 11p15.5 IGF2, GRDF C Insulin-like growth factor-2, or somatomedin A 147470 REa, A, RE mutation identified in 1 GRDF family ?Growth restriction, severe, with distinctive facies, 616489 (3) 7(Igf2)
11.44 7 8 13 11p15.5 IGF2AS, PEG8 P Insulin-like growth factor II, antisense 610146 REc
11.45 2 5 15 11p15.5 INS, MODY10, IDDM2 C Insulin 176730 HS, A, REb, Fd, D 5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH Hyperproinsulinemia, 616214 (3); Maturity-onset diabetes of the young, type 10, 613370 (3); Diabetes mellitus, permanent neonatal, 606176 (3); Diabetes mellitus, insulin-dependent, 2, 125852 (3) 6(Ins1); 7(Ins2)
11.46 2 28 03 11p15.5 IRDN, ILPR P Insulin-related DNA polymorphism (insulin-related VNTR) 147510 Fd
11.47 5 22 07 11p15.4 KCNQ1DN P KCNQ1 downstream neighbor 610980 REc
11.48 4 29 17 11p15.5 PHRF1, KIAA1542 P PHD and RING finger domain-containing protein 1 611780 R, REc
11.49 8 16 99 11p15.5 KCNQ1OT1, LIT1 C KCNQ1-overlapping transcript 1 604115 REc Beckwith-Wiedemann syndrome, 130650 (3) 7(Kcnq10t1)
11.50 12 19 90 11p15.5 KRTAP5-1, KRN1L P Keratin associated protein 5-1 148022 A
11.51 3 23 93 11p15.5 LSP1 P Lymphocyte-specific protein pp52 153432 A
11.52 11 22 13 11p15.5 MIR675 P Micro RNA 675 615509 REc
11.53 3 7 06 11p15.5 NALP6, PYPAF5 P NACHT domain-, leucine-rich repeat-, and PYD-containing protein 6 609650 REc
11.54 6 9 98 11p15.4 NAP1L4, NAP2L, NAP2 P Nucleosome assembly protein 1-like 4 601651 REc
11.55 1 27 04 11p15.5 ODF3, SHIPPO1 P Outer dense fiber of sperm tails 3 608356 REc 7(Odf3)
11.56 5 23 13 11p15.4 PGAP2, FRAG1, HPMRS3, MRT17, MRT21 P Post-GPI attachment to proteins 2 615187 A, R Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)
11.57 7 14 16 11p15.5 PGGHG, ATHL1 P Protein-glucosylgalactosylhydroxylysine glucosidase 617032 REc
11.58 10 28 04 11p15.4 PHLDA2, TSSC3, IPL, BRW1C P Pleckstrin homology-like domain, family A, member 2 602131 REn 7(Ipl)
11.59 11 11 14 11p15.5 PIDD1, LRDD P p53-induced death domain protein 1 605247 REc, H
11.60 1 24 07 11p15.5 PNPLA2, TTS2, ATGL P Patatin-like phospholipase domain-containing protein 2 609059 R Neutral lipid storage disease with myopathy, 610717 (3) 7(Pnpla2)
11.61 9 24 12 11p15.5 PSMD13, S11 P Proteasome 26S subunit, non-ATPase, 13 603481 REc, R
11.62 5 26 09 11p15.5 PTDSS2, PSS2 P Phosphatidylserine synthase 2 612793 REc
11.63 9 7 12 11p15.5 RASSF7, C11orf13, HRC1 P RAS association domain family, member 7 143023 REn 29kb 5' to HRAS1; divergently transcribed
11.64 12 10 12 11p15.5 RIC8A P Ric8, C. elegans, homolog of, A 609146 REc, R
11.65 1 22 15 11p15.5 RNH1, RNH C Ribonuclease/angiogenin inhibitor 1 173320 REa, A
11.66 12 22 98 11p15.5 RPL23L, L23MRP, MRPL23 P Ribosomal protein L23-like (L23 mitochondrial-related protein) 600789 REn
11.67 6 22 12 11p15.5 RPLP2 P Ribosomal phosphoprotein, large, P2 180530 REc
11.68 7 13 93 11p15.4 RRM1 C Ribonucleotide reductase, M1 polypeptide 180410 S, REa, A 7(Rrm1)
11.69 2 25 15 11p15.5 SCGB1C1, RYD5 P Secretoglobin, family 1C, member 1 610176 REc
11.70 2 14 01 11p15.5 SCT P Secretin 182099 R
11.71 1 30 01 11p15.5 SIGIRR P Single immunoglobulin domain-containing IL1R-related protein 605478 R
11.72 5 4 00 11p15.5 SIRT3, SIR2L3 P Sirtuin, S. cerevisiae, homolog 3 604481 REc
11.73 2 3 00 11p15.4 SLC22A1LS, ORCTL2S, BWSCR1B P Solute carrier family 22, member 1-like-antisense 603240 REc
11.74 6 23 11 11p15.4 SLC22A1L, BWSCR1A, IMPT1 P Solute carrier family 22, member 1-like (Beckwith-Wiedemann region 1A; organic-cation transporter-like 2) 602631 REn Breast cancer, somatic, 114480 (3); Rhabdomyosarcoma, somatic, 268210 (3); Lung cancer, somatic, 211980 (3)
11.75 4 7 05 11p15.5 SLC25A22, GC1, EIEE3 P Solute carrier family 25 (mitochondrial carrier, glutamate), member 22 609302 REc, Fd Epileptic encephalopathy, early infantile, 3, 609304 (3)
11.76 12 11 03 11p15.5 SLEN3 P Systemic lupus erythematosus with nephritis, susceptibility to, 3 607967 Fd {Systemic lupus erythematosus with nephritis, susceptibility to, 3} (2)
11.77 7 17 14 11p15.4 STIM1, TAM1, IMD10, STRMK P Stromal interaction molecule 1 605921 REn Immunodeficiency 10, 612783 (3); Myopathy, tubular aggregate, 1 160565 (3); Stormorken syndrome, 185070 (3)
11.78 5 22 13 11p15.5 SYT8 P Synaptotagmin 8 607719 REc
11.79 1 20 09 11p15.5 TH, TYH C Tyrosine hydroxylase 191290 REa, A, Fd, RE distal to HRAS1 Segawa syndrome, recessive, 605407 (3) 7(Th)
11.80 3 3 03 11p15.5 TNNI2, AMCD2B, DA2B, FSSV C Troponin I, fast-twitch skeletal muscle isoform 191043 R, Fd Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
11.81 8 11 03 11p15.5 TNNT3, AMCD2B, DA2B, FSSV C Troponin-T3, skeletal, fast 600692 REa, A, Fd Arthrogryposis, distal, type 2B, 601680 (3) 7(Tnnt3)
11.82 3 8 07 11p15.4 TRIM21, SSA1, RO52 P Tripartite motif-containing protein 21 109092 A
11.83 7 9 06 11p15.5 TOLLIP P Toll-interacting protein 606277 R, REc
11.84 1 14 14 11p15.4 TPP1, CLN2, SCAR7 C Tripeptidyl peptidase 1 607998 Fd, LD Ceroid lipofuscinosis, neuronal, 2, 204500 (3); Spinocerebellar ataxia, autosomal recessive 7, 609270 (3)
11.85 1 14 02 11p15.5 TRPM5, MTR1 P Transient receptor potential cation channel, subfamily M, member 5 (MLSN1- and TRP-related gene 1) 604600 REc maternal allele imprinted 7(Mtr1)
11.86 1 20 06 11p15.5 TSPAN4, TM4SF7, NAG2 P Tetraspanin 4 602644 REc
11.87 1 20 06 11p15.5 TSPAN32, PHEMX, TSSC6 P Tetraspanin 32 603853 RE not imprinted
11.88 11 2 04 11p15.4 TSSC2 P Tumor-suppressing subtransferable fragment candidate gene 2 608999 REc
11.89 8 31 99 11p15.5 TSSC4 P Tumor-suppressing subchromosomal transferable fragment cDNA 4 603852 RE not imprinted
11.90 3 9 98 11p15.4 ZNF195 P Zinc finger protein-195 602187 REc
11.91 12 4 02 11p15.4 FXC1, TIMM10B P Fracture callus 1, rat, homolog of 607388 A, R
11.92 7 13 93 11p15.4 ARHG P ras homolog gene family, member G (rho G) 179505 A
11.93 3 6 94 11p15.4 CCKBR, GASR C Cholecystokinin B receptor 118445 REa, A 7(Cckbr)
11.94 12 17 87 11p15.4 HPX C Hemopexin 142290 REa, A
11.95 6 25 99 11p15.4 ILK, P59 P Integrin-linked kinase 602366 A
11.96 2 26 08 11p15.4 MRPL17 P Mitochondrial ribosomal protein L17 611830 R
11.97 2 20 97 11p15.5 MUC6 P Mucin 6, gastric 158374 A order: tel-HRAS-MUC6-MUC2-MUC5AC-MUC5B-IGF2-cen
11.98 8 9 01 11p15.5 TALDO1 P Transaldolase-1 602063 REa, A, R pseudogene on chr.1 Transaldolase deficiency, 606003 (3)
11.99 10 16 89 11p15.1 LDHC, LDH3 C Lactate dehydrogenase C 150150 REa, A, REb closely linked to LDHB in other species; in man syntenic with LDHA; ?close to LDHA 7(Ldh3)
11.100 7 15 99 11p15.4 ADM C Adrenomedullin 103275 REa 7(Adm)
11.101 10 2 12 11p15.4 ARFIP2, POR1 P ADP-ribosylation factor-interacting protein 2 601638 REc
11.102 4 13 15 11p15.4 BGLT3, LINC01083 P Beta-globin locus transcript 3, noncoding 616308 REc
11.103 3 20 09 11p15.4 CYB5R2 P Cytochrome b5 reductase 2 608342 REc
11.104 11 17 15 11p15.4 DCHS1, PCDH16, FIB1, CDH19, VMLDS1, MVP2 P Dachsous, Drosophila, homolog of, 1 603057 REc Van Maldergem syndrome 1, 601390 (3); Mitral valve prolapse 2, 607829 (3)
11.105 1 11 17 11p15.4 DENND5A, RAB6IP1, KIAA1091, EIEE49 P DENN domain-containing protein 5A 617278 REc Epileptic encephalopathy, early infantile, 49, 617281 (3)
11.106 12 27 16 11p15.4 DHND1, FLJ00251 P Dynein heavy chain domain 1 617277 REc
11.107 10 3 07 11p15.4 EIF3F, EIF3S5 P Eukaryotic translation initiation factor 3, subunit F 603914 REc
11.108 12 8 14 11p15.4 GVINP1, VLIG1 P GTPase, very large interferon-inducible, pseudogene 1 616121 REc 7(Gvin1)
11.109 8 17 09 11p15.1 LDHA, LDH1, GSD11 C Lactate dehydrogenase A 150000 S, D, REb, C, A Glycogen storage disease XI, 612933 (3) 7(Ldh1)
11.110 3 31 09 11p15.4 MRGPRE, MRGE P Mas-related G protein-coupled receptor family, member E 607232 REc
11.111 4 30 91 11p15.1 MYOD1, MYF3 C Myogenic factor-3 159970 REa, A proximal to CALCA, HBB, BWS, PTH; ?11p14.3 7(Myod1)
11.112 4 17 13 11p15.4 NLRP1, NALP14, NOD5 P NLR family, pyrin domain containing 1 609665 REc
11.113 8 8 13 11p15.4 OR10A1 P Olfactory receptor, family 10, subfamily A, member 1 608493 REc, A
11.114 8 8 13 11p15.4 OR2D2 P Olfactory receptor, family 2, subfamily D, member 2 608494 REc, A
11.115 8 19 13 11p15.4 OR51E1, DGPCR, PSGR2 P Olfactory receptor, family 51, subfamily E, member 1 611267 REn
11.116 8 19 13 11p15.4 OR51E2, PSGR P Olfactory receptor, family 51, subfamily E, member 2 611268 REn
11.117 5 7 03 11p15.4 OSBPL5, ORP5, KIAA1534 C Oxysterol-binding protein-like protein 5 606733 R, REc
11.118 12 10 12 11p15.4 RIC3 P Resistance to inhibitors of cholinesterase 3, C. elegans, homolog of 610509 REc
11.119 7 18 14 11p15.4 RRP8, NML, KIAA0409 P Ribosomal RNA processing protein 8, homolog of 615818 R, REc
11.120 4 19 12 11p15.4 SCUBE2 P Signal peptide-, CUB domain-, and EGF-like domains-containing protein 2 611747 REc
11.121 4 2 16 11p15.4 SNORA3B, SNORA45 P Small nucleolar RNA, H/ACA box 3B 611333 REc
11.122 8 17 10 11p15.4 SYT9 P Synaptotagmin 9 613528 REc
11.123 4 17 12 11p15.4 TRIM3, RNF22, BERP P Tripartite motif-containing 3 605493 R, REc
11.124 4 23 08 11p15.4 TRIM66, TIF1D, KIAA0298 P Tripartite motif-containing protein 66 612000 R, REc
11.125 12 21 09 11p15.4 TRIM68, SS56, GC109 P Tripartite motif-containing protein 68 613184 REc incorrectly assigned to 2p24 by FISH
11.126 2 3 15 11p15.4 TUB, RDOB P Tubby, mouse, homolog of 601197 REc, H mutation identified in 1 RDOB family ?Retinal dystrophy and obesity, 616188 (3)
11.127 6 26 00 11p15.4 ZNF214 P Zinc finger protein-214 605015 REc
11.128 6 26 00 11p15.4 ZNF215 P Zinc finger protein-215 605016 REc
11.129 2 25 15 11p15.4 MRVI1, IRAG P Murine retrovirus integration site 1, homolog of 604673 REc
11.130 2 28 01 11p15.4 TRIM34, RNF21, IFP1 P Tripartite motif-containing 34 (RING finger protein-21) 605684 A
11.131 6 6 00 11p15.4 ZNF143, SBF P Zinc finger protein-143 603433 A
11.132 3 31 03 11p15.4 SMPD1, NPD C Sphingomyelin phosphodiesterase-1, acid lysosomal 607608 REa, A Niemann-Pick disease, type A, 257200 (3); Niemann-Pick disease, type B, 607616 (3) 7(Smpd1)
11.133 9 11 08 11p15.4 AKIP1, BCA3, C11orf17 P Protein kinase A-interacting protein 1 609191 R, REc 7(Akip1)
11.134 4 6 13 11p15.4 GALNT18, GALNACT18, GALNTL4 P UPD-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 615136 REc
11.135 10 28 08 11p15.3 MICAL2, KIAA0750 P Microtubule-associated monooxygenase, calponin and LIM domains-containing 2 608881 R, REc
11.136 10 28 08 11p15.3 MICALCL, EBITEIN1 P MICAL C terminus-like protein 612355 REc
11.137 12 2 09 11p15.4 NRIP3 P Nuclear receptor-interacting protein 3 613125 REc
11.138 5 16 05 11p15.4 SH2BP1, KIAA0155, p150 P SH2 domain-binding protein 1 609366 Psh, REc 7(Sh2bl1)
11.139 4 3 03 11p15.4 STK33 P Serine/threonine protein kinase 33 607670 REc, H 7(Stk33)
11.140 12 4 01 11p15.4 TAF10, TAF2H, TAF2A C TAF10 RNA polymerase II, TATA box-binding protein-associated factor, 30kD 600475 A
11.141 2 23 12 11p15.3 USP47 P Ubiquitin-specific protease 47 614460 REc
11.142 5 29 13 11p15.4 ZBED5, BUSTER1 P Zinc finger BED domain-containing protein 5 615251 REc
11.143 10 7 02 11p15.2 SOX6 P SRY-box 6 607257 A 7(Sox6)
11.144 7 20 06 11p15.3 PTH C Parathyroid hormone 168450 REa, REb, A, Fd ~9cM distal to CALC1; distal to MYOD Hypoparathyroidism, autosomal dominant, 146200 (3); Hypoparathyroidism, autosomal recessive, 146200 (3) 7(Pth)
11.145 3 23 93 11p15.4 WEE1 P wee1+, S. pombe, homolog of 193525 A
11.146 8 21 91 11p15.1 TPH1, TPH C Tryptophan hydroxylase 1 (tryptophan-5-monooxygenase) 191060 REa, A 7(Tph)
11.147 8 12 14 11p15.3 BTBD10 P BTB/POZ domain-containing protein 10 615933 REc
11.148 10 15 10 11p15.2 COPB1, COPB P Coatomer protein complex, subunit beta 1 600959 REc
11.149 7 20 04 11p15.2 CYP2R1 P Cytochrome P450, subfamily IIR, polypeptide 1 (vitamin D 25-hydroxylase) 608713 REc Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
11.150 1 5 15 11p15.3 FAR1, MLSTD2, PFCRD P Fatty acyl CoA reductase 1 616107 REc Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3) 7(Far1)
11.151 12 29 06 11p15.2 INSC P Inscuteable, Drosophila, homolog of 610668 REc
11.152 7 18 12 11p15.3 RASSF10 P Ras association domain family, member 10 614713 REc
11.153 9 18 06 11p15.3 TEAD1, TCF13, REF1 C TEA domain family member 1 189967 Psh, R Sveinsson chorioretinal atrophy, 108985 (3)
11.154 5 8 97 11p15.2 CALCA, CALC1 C Calcitonin/calcitonin-related polypeptide, alpha 114130 REa, A, REb, D, Fd, REn same 220kb fragment as CALCB 7(Calc)
11.155 3 23 93 11p15.2 CALCB, CALC2 C Calcitonin-related polypeptide, beta 114160 A, REa, REb, D
11.156 6 19 98 11p15.1 NELL1 P Nel-like 1 602319 A
11.157 2 18 96 11p15.1 PTPN5, STEP P Protein tyrosine phosphatase, nonreceptor-type, 5 (striatum-enriched) 176879 Psh, A 7(Ptpn5)
11.158 5 10 12 11p15.1 SLC6A5, GLYT2, HKPX3 C Solute carrier family 6 (neurotransmitter transporter, glycine), member 5 604159 R Hyperekplexia 3, 614618 (3)
11.159 3 31 97 11p15.1 TSG101 P Tumor susceptibility gene 101 601387 R, A Breast cancer, somatic, 114480 (3)
11.160 4 27 07 11p15.1 UEVLD, UEV3, ATTP P Ubiquitin E2 variant and lactate/malate dehydrogenase domains-containing protein 610985 REc
11.161 7 14 98 11p14.3 GAS2 C Growth arrest-specific 2 602835 R, A, H 7(Gas2)
11.162 8 31 06 11p15.1 ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 C ATP-binding cassette, subfamily C, member 8 (sulfonylurea receptor) 600509 A, REn, Fd, LD Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3); Hypoglycemia of infancy, leucine-sensitive, 240800 (3); Diabetes mellitus, transient neonatal 2, 610374 (3); Diabetes mellitus, noninsulin-dependent, 125853 (3); Diabetes mellitus, permanent neonatal, 606176 (3)
11.163 1 31 11 11p15.1 B7H6 P B7 homolog 6 613714 REc
11.164 6 24 08 11p15.1 CSRP3, CRP3, CLP, CMD1M, CMH12 C Cysteine- and glycine-rich protein 3 600824 A mutation identified in 1 CMD1M family ?Cardiomyopathy, dilated, 1M, 607482 (3); Cardiomyopathy, hypertrophic, 12, 612124 (3)
11.165 8 11 15 11p15.3 DKK3, RIG P Dickkopf, Xenopus, homolog of, 3 605416 A
11.166 6 9 08 11p15.1 E2F8 P E2F transcription factor 8 612047 REc 7(E2f8)
11.167 6 1 04 11p15.1 HTATIP2, TIP30, CC3 P HIV-1 TAT-interacting protein 2, 30kD 605628 R, REc
11.168 1 31 17 11p15.1 KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13 C Potassium inwardly-rectifying channel, subfamily J, member 11 600937 A, REn, Fd, LD 4.5kb 3' of SUR Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3); Diabetes, permanent neonatal, with or without neurologic features, 606176 (3); {Diabetes mellitus, type 2, susceptibility to}, 125853 (3); Diabetes mellitus, transient neonatal, 3, 610582 (3); Maturity-onset diabetes of the young, type 13, 616329 (3)
11.169 3 31 09 11p15.1 MRGPRX1, MRGX1 P Mas-related G protein-coupled receptor family, member X1 607227 REc
11.170 3 31 09 11p15.1 MRGPRX2, MRGX2 P Mas-related G protein-coupled receptor family, member X2 607228 REc
11.171 3 31 09 11p15.1 MRGPRX3, MRGX3 P Mas-related G protein-coupled receptor family, member X3 607229 REc
11.172 3 31 09 11p15.1 MRGPRX4, MRGX4 P Mas-related G protein-coupled receptor family, member X4 607230 REc
11.173 1 2 08 11p15.1 NAV2, RAINB1, KIAA1419 C Neuron navigator 2 607026 R, REc
11.174 3 31 15 11p15.1 PIK3C2A, CPK P Phosphatidylinositol 3-kinase, class 2, alpha 603601 REc
11.175 3 31 09 11p15.2-p15.1 PLEKHA7 P Pleckstrin homology domain-containing protein, family A, member 7 612686 REc
11.176 1 13 99 11p15.2 PSMA1, PROS30 P Proteasome subunit, alpha-type, 1 602854 A
11.177 3 18 94 11p15.1 SAA1 C Serum amyloid A1 104750 REa, H, A, Psh 7(Saa1)
11.178 3 18 94 11p15.1 SAA2 C Serum amyloid A2 104751 REn, A, Fd, Psh pseudogene = SAA3
11.179 3 18 94 11p15.1 SAA4 C Serum amyloid A4, constitutive 104752 REn, A, Psh 7(Saa4)
11.180 11 29 12 11p15.1 USH1C, DFNB18A C Harmonin (Usher syndrome 1C gene) 605242 Fd Acadian and Samaritan variety Usher syndrome, type 1C, 276904 (3); Deafness, autosomal recessive 18A, 602092 (3)
11.181 7 15 09 11p15.1 ZDHHC13, HIP14L P Zinc finger DHHC domain-containing protein 13 612815 REc
11.182 3 18 95 11p15.1 GTF2H1 C General transcription factor IIH, polypeptide 1 (62kD subunit) 189972 A, REn within 50kb of LDHA
11.183 6 19 98 11p15.4 APBB1, FE65 P Amyloid beta A4 precursor protein-binding, family B, member-1 602709 A 7(Apbb1)
11.184 8 20 98 11p15.3 ARNTL, BMAL1, TIC P Aryl hydrocarbon receptor nuclear translocator-like 602550 A 7(Arntl)
11.185 2 24 97 11p15.4 ART1 P ADP-ribosyltransferase 1 601625 REa 7(Art1)
11.186 11 30 06 11p15.4 ART5 P ADP-ribosyltransferase 5 610625 REc 7(Art5)
11.187 6 19 98 11p15.4 EIF4G2, DAP5 P Eukaryotic translation initiation factor 4G-like 1 602325 A, H 7(Eif4G2)
11.188 8 23 17 11p15.5 EPS8L2, EPS8R2, DFNB106 P EPS8-like protein 2 614988 REc Deafness autosomal recessive 106, 617637 (3) 7(Eps8l2)
11.189 12 29 99 11p14.3 FANCF P Fanconi anemia, complementation group F 613897 REc Fanconi anemia, complementation group F, 603467 (3)
11.190 8 20 07 11p15 GINGF4, HGF4, GGF4 P Fibromatosis, gingival, 4 611010 Fd between D11S1984 and D11S1338 Fibromatosis, gingival, 4 (2)
11.191 2 12 07 11p15 IH, HHP P Hemihyperplasia, isolated 235000 Fd epigenetic or uniparental disomy Hemihypertrophy (2)
11.192 2 4 15 11p15.1 KCNC1, EPM7 C Potassium voltage-gated channel, Shaw-related subfamily, member 1 176258 A, REn Epilepsy, progressive myoclonic 7, 616187 (3) 7(Kcnc1)
11.193 4 17 97 11p15.4 LMO1, RBTN1, RHOM1 C LIM domain only 1 (rhombotin 1) 186921 Ch, D Leukemia, T-cell acute lymphoblastic (2) 7(Ttg1)
11.194 7 26 10 11p15 LVNC2 P Left ventricular noncompaction 2 609470 Fd max lod at D11S902 Left ventricular noncompaction 2 (2)
11.195 1 8 01 11p15.4 MMP26 P Matrix metalloproteinase 26 (matrilysin 2) 605470 REa, R
11.196 7 22 11 11p15.5 MUC5B P Mucin 5, subtype B, tracheobronchial 600770 REa, A {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
11.197 2 5 16 11p15 NBLST7 P Neuroblastoma, susceptibility to, 7 616792 Fd associated with rs2168101 {Neuroblastoma, susceptibility to, 7} (2)
11.198 4 17 13 11p15.4 NLRP10, NALP10, PYNOD, NOD8 P NLR family, pyrin domain containing 10 609662 REc
11.199 2 4 00 11p15.4 NUP98 C Nucleoporin, 98kD 601021 Ch, REc, Psh fused with HOXA9, NSD1, NSD3, PMX1, HOXC13, DDX10, TOP1, HOXD11 in myeloid leukemia
11.200 7 9 14 11p15.4 OR6A2, OR6A1 P Olfactory receptor, family 6, subfamily A, member 2 608495 REc, A
11.201 10 29 09 11p15.3 PARVA P Parvin, alpha 608120 REc
11.202 3 9 98 11p15.2 PDE3B P Phosphodiesterase-3B, cGMP-inhibited 602047 A, Psh
11.203 3 6 01 11p15.5 PKP3 P Plakophilin-3 605561 A
11.204 2 16 01 11p15.5 POLR2L, RPB10 P Polymerase II, RNA, subunit L 601189 A
11.205 9 24 08 11p15.4 RBMXL2, HNRNPGT, HNRPGT C RNA-binding motif protein, X chromosome, like 2 605444 A, R
11.206 11 20 15 11p15.4 RNF141, ZNF230 P RING finger protein 141 616641 REc 7(Rnf141)
11.207 2 20 01 11p15.4 RPL27A C Ribosomal protein L27a 603637 RE, R 7(Rpl27a)
11.208 11 16 05 11p15.4 SBF2, MTMR13, CMT4B2 C SET binding factor 2 (myotubularin-related 13) 607697 Fd, REc Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
11.209 10 23 92 11p15.4 ST5, HTS1 P Suppression of tumorigenicity-5 140750 S, REa, A
11.210 5 23 00 11p15.4 SWAP70 P Switch-associated protein 70 604762 A, H 7(Swap70)
11.211 2 26 04 11p15.4 TRIM5, RNF88 P Tripartite motif-containing protein 5 608487 R
11.212 2 19 03 11p15.4 TRIM6 P Tripartite motif-containing protein 6 607564 R
11.213 2 19 03 11p15.4 TRIM22, STAF50 C Tripartite motif-containing protein 22 606559 A, R
11.214 1 30 01 11p15.4 UBQLN3 P Ubiquilin 3 605473 R
11.215 1 20 09 11p15-p14 DEL11p15p14, C11DELp15p14 P Chromosome 11p15-p14 deletion syndrome (homozygous) 606528 Ch contiguous gene deletion syndrome Chromosome 11p15-p14 deletion syndrome (4)
11.216 1 12 07 11p15.1 NUCB2, NEFA P Nucleobindin 2 608020 REc
11.217 1 9 01 11p13 ELF5, ESE2 P E74-like factor 5 (epithelium-specific ETS factor 2) 605169 Psh, R
11.218 1 29 03 11p15.1 HPS5, RU2, KIAA1017 P HPS gene 5 (ruby-eye 2, mouse, homolog of) 607521 REc, H Hermansky-Pudlak syndrome 5, 614074 (3) 7(ru2)
11.219 3 29 10 11p14.3 ANO5, TMEM16E, GDD1, LGMD2L C Anoctamin 5 608662 REn, H, Fd Gnathodiaphyseal dysplasia, 166260 (3); Muscular dystrophy, limb-girdle, type 2L, 611307 (3); Miyoshi muscular dystrophy 3, 613319 (3) 7(Tmem16e)
11.220 11 29 12 11p15.1 OTOG, OTGN, DFNB18B P Otogelin 604487 A Deafness, autosomal recessive 18B, 614945 (3) 7(Otog)
11.221 2 19 03 11p14.3 SLC17A6, VGLUT2, DNPI P Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 607563 A
11.222 4 10 90 11p14.3-p12 ST2 P Suppression of tumorigenicity-2 185440 Ch
11.223 9 28 11 11p14.2 BBOX1, BBOX C Butyrobetaine-gamma, 2-oxoglutarate dioxygenase 1 603312 R, REc
11.224 8 22 16 11p14.2 FIBIN P Fin bud initiation factor, zebrafish, homolog of 617085 REc, H 2(Fibin)
11.225 12 24 08 11p14.2 SLC5A12, SMCT2 P Solute carrier family 5 (sodium/glucose cotransporter), member 12 612455 REc
11.226 3 19 09 11p14.2-q12.3 DFNA59 P Deafness, autosomal dominant 59 612642 Fd between D22S929 and D11S480 Deafness, autosomal dominant 59 (2)
11.227 10 6 08 11p14.1 CCDC34 P Coiled-coil domain-containing protein 34 612324 REc
11.228 10 6 08 11p14.1 DCDC5, KIAA1493 C Doublecortin domain-containing protein 5 612321 REc, H 2(Dcdc5)
11.229 9 8 08 11p14.1 HSP90AA2, HSPCAL3 C Heat-shock protein, 90kD, alpha, class A, member 2 140575 REa, A
11.230 7 22 13 11p14.1 LGR4, GPR48, BNMD17 P Leucine-rich repeat-containing G protein-coupled receptor 4 606666 REc, Psh, R previously mapped to 5q34-q35.1 {Bone mineral density, low, susceptibility to}, 615311 (3)
11.231 10 7 08 11p14.1 LIN7C, VELI3, MALS3 P Lin7, C. elegans, homolog of, C 612332 REc
11.232 3 23 09 11p14.1 MIR610, MIRN610 C Micro RNA 610 612330 REc
11.233 9 23 08 11p14.1 C11orf46 P Chromosome 11 open reading frame 46 612295 REc
11.234 9 23 08 11p13 LOC283267 P LOC283267 gene 612296 REc
11.235 4 20 10 11p14.1-p11.2 SPG41 L Spastic paraplegia 41 613364 Fd max lod 2.36; between D11S1324 and D11S1993 ?Spastic paraplegia 41, autosomal dominant (2)
11.236 1 28 13 11p14.3-p14.2 ANO3, TMEM16C, C11orf25, DYT24 P Anoctamin 3 610110 REc Dystonia 24, 615034 (3)
11.237 8 27 15 11p14.1 BDNFAS, BDNFOS P BDNF antisense RNA 611468 REc
11.238 8 19 13 11p14.1 KIF18A P Kinesin family member 18A 611271 REc
11.239 8 1 13 11p15.1 SERGEF, DELGEF P Secretion-regulating guanine nucleotide exchange factor 606051 REc, Psh
11.240 11 10 10 11p14 TST1 P Tuberculin skin test reactivity, absence of 613636 Fd at chr11:26.37M [Tuberculin skin test reactivity, absence of] (2)
11.241 1 27 04 11p14.3 LUZP2 P Leucine zipper protein 2 608178 R
11.242 3 16 10 11p14.1 MPPED2, C11orf8, D11S302E, 239FB P Metallophosphoesterase domain-containing protein 2 600911 REn
11.243 12 22 08 11p13 APIP, CGI29, MMRP19 P APAF1-interacting protein 612491 REc
11.244 5 4 12 11p14.1 BDNF, BULN2, ANON2 C Brain-derived neurotrophic factor 113505 A, REa, D homeology with NRF3 on 12p; at p14 boundary {Memory impairment, susceptibility to} (3); Central hypoventilation syndrome, congenital, 209880 (3); {Obsessive-compulsive disorder, protection against}, 164230 (3); {Bulimia nervosa, age of onset of weight loss in}, 607499 (3); {Anorexia nervosa, susceptibility to}, 610269 (3) 1(Bdnf)
11.245 4 21 16 11p13 DEL11p13, C11DELp13 P Chromosome 11p13 deletion syndrome, distal 616902 Ch Chromosome 11p13 deletion syndrome, distal, 616902 (4)
11.246 12 14 10 11p13 DEL11p13, C11DELp13, WAGR P Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome (chromosome 11p13 deletion syndrome) 194072 Ch deletion of WT1 and PAX6 genes Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome (4)
11.247 9 23 08 11p13 C11orf41, G2 P Chromosome 11 open reading frame 41 612297 REc, REn
11.248 11 19 13 11p13 CAPRIN1, M11S1, GPIAP1, GRIP137 P Cell cycle associated protein 1 601178 REc
11.249 9 21 11 11p13 CAT C Catalase 115500 S, D, Fd cen-CAT-WT1-AN2-pter Acatalasemia, 614097 (3) 2(Cas1)
11.250 10 7 08 11p13 CCDC73 P Coiled-coil domain-containing protein 73 612328 REc
11.251 9 23 08 11p13 CD59, MIC11 C CD59 antigen (p18-20) 107271 REa, A, D in mouse Ly-6 = multigene complex Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3) 15(Ly6)
11.252 9 23 08 11p13 COMM9 C COMM domain-containing protein 9 612299 REc, REn
11.253 5 25 13 11p13 CSTF3 P Cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD 600367 REc
11.254 8 29 03 11p14-p13 DCDC1 P Doublecortin domain-containing protein 1 608062 REc
11.255 9 23 08 11p13 DEPDC7, TR2 P DEP domain-containing protein 7 612294 REc, REn
11.256 8 21 07 11p13 DPH4 P DPH4, S. cerevisiae, homolog of 611072 R, REc
11.257 3 9 10 11p13 ECT, BECTS P Centrotemporal epilepsy 117100 Fd previously assigned to 15q14 Centrotemporal epilepsy (2)
11.258 10 3 07 11p13 EIF3M, PCID1, B5, GA17 P Eukaryotic translation initiation factor 3, subunit M 609641 REc
11.259 10 3 16 11p13 ELP4, PAX6NEB, AN2 P Elongation protein 4, S. cerevisiae, homolog of 606985 REc mutation identified in 1 AN2 patient ?Aniridia 2, 617141 (3)
11.260 9 9 08 11p13 FBXO3, FBX3, FBA P F-box only protein 3 609089 REc 2(Fbxo3)
11.261 8 29 08 11p13 FJX1 P Four-jointed box, Drosophila, homolog of, 1 612206 REc
11.262 4 6 15 11p14.1 FSHB, HH24 C Follicle-stimulating hormone, beta polypeptide 136530 D, REa distal to AN2 Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3) 2(Fshb)
11.263 10 24 00 11p13 HIPK3, PKY, DYRK6 P Homeodomain-interacting protein kinase-3 604424 A
11.264 10 6 08 11p13 IMMP1L, IMP1 P Inner mitochondrial membrane peptidase, subunit 1, S. cerevisiae, homolog of 612323 REc
11.265 12 11 95 11p13 LMO2, RBTNL1, RHOM2, TTG2 P LIM domain only 2 (rhombotin-like 1) 180385 REa, REc 3rd rhombotin gene not on 11 Leukemia, acute T-cell (2)
11.266 4 13 05 11p13 MYP7 P Myopia 7 609256 Fd Myopia 7 (2)
11.267 5 9 14 11p13 NAT10, ALP, KIAA1709 C N-acetyltransferase 10 609221 REc, REn
11.268 1 27 17 11p13 PAX6, AN2, MGDA, FVH1, ASGD5 C Paired box homeotic gene-6 607108 Ch, Fd mutation identified in 1 patient each with MDGA, COLBN, or COLB Aniridia, 106210 (3); Cataract with late-onset corneal dystrophy, 106210 (3); Anterior segment dysgenesis 5, multiple subtypes, 604229 (3); Foveal hypoplasia 1, 136520 (3); Keratitis, 148190 (3); Optic nerve hypoplasia, 165550 (3); ?Morning glory disc anomaly, 120430 (3); ?Coloboma of optic nerve, 120430 (3); ?Coloboma, ocular, 120200 (3) 2(Sey)
11.269 12 15 17 11p13 PDHX, PDX1, E3BP, PDHXD C Pyruvate dehydrogenase complex, lipoyl-containing component X 608769 A, R, Psh, REc Lacticacidemia due to PDX1 deficiency, 245349 (3)
11.270 1 2 08 11p13 PRRG4, PRGP4, TMG4 P Proline-rich gamma-carboxyglutamic acid protein 4 611690 REc
11.271 6 9 08 11p12 RAG1 C Recombination activating gene-1 179615 REa, D assignment to 14 in error Severe combined immunodeficiency, B cell-negative, 601457 (3); Omenn syndrome, 603554 (3); 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) 2(Rag1)
11.272 6 9 08 11p12 RAG2 C Recombination activating gene-2 179616 REa, D assignment to 14 in error Severe combined immunodeficiency, B cell-negative, 601457 (3); Omenn syndrome, 603554 (3); Combined cellular and humoral immune defects with granulomas, 233650 (3) 2(Rag2)
11.273 7 13 98 11p13 RCN1 P Reticulocalbin 1 602735 REc 2(Rcn1)
11.274 10 3 16 11p13 TRIM44, AN3 P Tripartite motif-containing protein 44 612298 REc, REn mutation identified in 1 AN3 family ?Aniridia 3, 617142 (3)
11.275 8 16 11 11p13 WT1, NPHS4 C Wilms tumor-1 607102 Ch clumped: pter-FSHB-AN2-WT1-CAT Wilms tumor, type 1, 194070 (3); Denys-Drash syndrome, 194080 (3); Nephrotic syndrome, type 4, 256370 (3); Frasier syndrome, 136680 (3); Meacham syndrome, 608978 (3); Mesothelioma, somatic, 156240 (3) 2(Wt1)
11.276 2 12 16 11p13 WT1AS, WIT1 P WT1 antisense RNA 607899 REc
11.277 3 13 06 11p13-p12 DFNB51 P Deafness, autosomal recessive 51 609941 Fd max lod at D11S4102 Deafness, autosomal recessive 51 (2)
11.278 4 6 01 11p13-p12 EVR3 P Exudative vitreoretinopathy 3 605750 Fd Exudative vitreoretinopathy 3 (2)
11.279 11 24 15 11p13-p12 PRR5L, PROTOR2, FLJ14213 P Proline-rich protein 5-like 611728 R, REc
11.280 2 24 97 11p11.2 PSMC3, TBP1 P Proteasome (prosome, macropain) 26S subunit, ATPase, 3 186852 Psh, A
11.281 9 22 16 11p13 SLC1A2, EAAT2, EIEE41 C Solute carrier family 1 (glial high affinity glutamate transporter), member 2 600300 A, REa Epileptic encephalopathy, early infantile, 41, 617105 (3) 2(Eaat2)
11.282 12 24 08 11p13-p12 WAGRO, DEL11p14p12 P Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 612469 Ch contiguous gene deletion syndrome WAGRO syndrome (4)
11.283 7 20 09 11q14.3 FOLH1B, PSMAL, GCP3 C Folate hydrolase 1B 609020 A, REc
11.284 4 26 10 11p13-q12 CANDF3, CANDN1, FCNC P Candidiasis, familial, 3 607644 Fd between D11S1312 and D11S4191 Candidiasis, familial, 3 (2)
11.285 11 18 11 11p13-q14.1 MRT23 P Mental retardation, autosomal recessive 23 614344 Fd between rs604518 and rs10899421 Mental retardation, autosomal recessive 23 (2)
11.286 12 23 05 11p12 API5, AAC11 P Apoptosis inhibitor 5 609774 REc
11.287 1 22 08 11p12 BMND8 P Bone mineral density QTL 8 611739 Fd between D11S1392 and D11S4102 {Osteoporosis}, 166710 (2)
11.288 1 29 01 11p13 EHF, ESE3 P ETS homologous factor 605439 REa, A
11.289 9 12 08 11p12 LRRC4C, NGL1, KIAA1580 P Leucine rich repeat containing 4C (netrin-G1 ligand) 608817 R, REc
11.290 3 13 06 11p12 TRAF6 P TNF receptor-associated factor 6 602355 REc, R
11.291 3 15 92 11p11.2 CHRM4 C Cholinergic receptor, muscarinic, 4 118495 A, REa, Fd
11.292 4 30 15 11p11.2 LRP4, MEGF7, CLSS, SOST2, CMS17 P Low density lipoprotein receptor-related protein 4 604270 R mutation identified in 1 CMS17 family Cenani-Lenz syndactyly syndrome, 212780 (3); Sclerosteosis 2, 614305 (3); ?Myasthenic syndrome, congenital, 17, 616304 (3)
11.293 3 1 00 11p11.2 MAPK8IP1, IB1 P Mitogen-activated protein kinase 8-interacting protein 1 604641 R, A {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
11.294 12 28 16 11p11.2 PEX16, PBD8A, PBD8B P Peroxisome biogenesis factor 16 603360 R, H Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3); Peroxisome biogenesis disorder 8B, 614877 (3) 2(Pex16)
11.295 12 13 96 11p11.2 DDB2 P Damage-specific DNA binding protein 2, 48kD 600811 A Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
11.296 12 29 15 11p11.2 EXT2, SSMS C Exostosin 2 608210 Fd, D mutation identified in 1 SSMS family Exostoses, multiple, type 2, 133701 (3); ?Seizures, scoliosis, and macrocephaly syndrome, 616682 (3) 2(Ext2)
11.297 4 17 07 11p12-p11 PSNP3 P Supranuclear palsy, progressive, 3 610898 Fd Supranuclear palsy, progressive, 3 (2)
11.298 3 14 07 11p11.2 ARHGAP1, RHOGAP1, CDC42GAP P RHO GTPase-activating protein 1 602732 R, REc
11.299 10 2 91 11q24.2 ACRV1 P Acrosomal vesicle protein-1 102525 REa
11.300 4 20 11 11p11.2 ACP2 C Acid phosphatase 2, lysosomal 171650 S, REa ?Lysosomal acid phosphatase deficiency, 200950 (1) 2(Acp2)
11.301 2 9 17 11p11.2 AGBL2, CCP2 P ATP/GTP-binding protein-like 2 617345 REc
11.302 11 19 13 11p11.2 ALX4, PFM2, FPP, FND2, CRS5 P Aristaless-like 4, mouse, homolog of 605420 REc, Fd Parietal foramina 2, 609597 (3); Frontonasal dysplasia 2, 613451 (3); {Craniosynostosis 5, susceptibility to}, 615529 (3)
11.303 9 9 10 11p11.2 AMBRA1, KIAA1736 P Activating molecule in beclin 1-regulated autophagy 611359 R, REc
11.304 3 14 13 11p11.2 ATG13, KIAA0652, PARATARG8 C Autophagy 13, S. cerevisiae, homolog of 615088 REc, R
11.305 12 10 12 11p11.2 C1QTNF4, CTRP4 P C1q- and tumor necrosis factor-related protein 4 614911 REc, R
11.306 1 20 06 11p11.2 CD82, SAR2, KAI1, ST6 P CD82 antigen 600623 M {Prostate cancer, susceptibility to}, 176807 (2)
11.307 2 23 08 11p11.2 CKAP5, CHTOG, MSPS, KIAA0097 P Cytoskeleton-associated protein 5 611142 REa, REc
11.308 2 11 15 11p11.2 CREB3L1, OASIS P cAMP response element-binding protein 3-like 1 616215 REc
11.309 2 11 15 11p11.2 DGKZ P Diacylglycerol kinase, zeta, 104kD 601441 REc
11.310 6 4 13 11p11.2 FNBP4, FBP30, KIAA1014 P Formin-binding protein 4 615265 REc
11.311 10 11 00 11p11.12 FOLH1, FOLH, PSM, PSMA C Folate hydrolase 1 (prostate-specific membrane antigen) 600934 A, REc ?pseudogene on 11q14
11.312 11 15 05 11p11.2 GYLTL1B, LARGE2 P Glycosyltransferase-like 1B 609709 REc
11.313 3 7 13 11p11.2 HARBI1 C Harbinger transposase-derived gene 1 615086 REc, Ch
11.314 8 31 17 11p11.2 KBTBD4, HSPC252, BKLHD4 P KELCH repeat- and BTB/POZ domain-containing protein 4 617645 REc
11.315 5 12 99 11p11.2 MADD, DENN P MAP kinase-activating death domain (differentially expressed in normal and neoplastic cells) 603584 A
11.316 6 13 12 17p12-p11 NCOR1 P Nuclear receptor corepressor 1 600849 REc
11.317 9 14 94 11p11.2 MDK, NEGF2 C Midkine (neurite growth-promoting factor 2) 162096 REa, A 2(Mdk)
11.318 6 22 14 11p11.2 NUP160, KIAA0197 P Nucleoporin, 160kD 607614 Psh, REc
11.319 9 9 13 11p11.2 MYBPC3, CMH4, CMD1MM, LVNC10 C Myosin-binding protein C, cardiac 600958 A, Fd Cardiomyopathy, hypertrophic, 4, 115197 (3); Cardiomyopathy, dilated, 1MM, 615396 (3); Left ventricular noncompaction 10, 615396 (3)
11.320 10 1 17 11p11.2 NR1H3, LXRA P Nuclear receptor subfamily 1, group H, member 3 602423 REc
11.321 2 23 15 11p11.2 OI16, C16DELp11.2, DEL16p11.2 P Osteogenesis imperfecta, type XVI (chromosome 11p11.2 deletion syndrome, 91.3kb) 616229 Ch Osteogenesis imperfecta, type XVI (4)
11.322 9 28 10 11p11.2 PHF21A, BHC80, KIAA1696 P PHD finger protein 21A 608325 R, REc
11.323 5 19 15 11p11.2 PRDM11, PFM8 P PR domain-containing protein 11 616347 REc
11.324 5 13 10 11p11.2 PSS C Potocki-Shaffer syndrome 601224 Ch contiguous gene syndrome caused by deletion of 11p11.2 Potocki-Shaffer syndrome (4)
11.325 6 27 02 11p11.2 PTPRJ, DEP1 P Protein tyrosine phosphatase, receptor type, J polypeptide 600925 H, A Colon cancer, somatic, 114500 (3) 2(Ptprj)
11.326 2 10 05 11p11.2 SLC35C1, FUCT1, CDG2C C Solute carrier family 35, member C1 (GDP-Fucose transporter 1) 605881 REc Congenital disorder of glycosylation, type IIc, 266265 (3)
11.327 4 5 18 11p11.2 SLC39A13, ZIP13, EDSSPD3 P Solute carrier family 39 (zinc transporter), member 13 608735 REc Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3)
11.328 2 10 00 11p11.2 SPI1, SFPI1 P Oncogene SPI1 165170 REa, A
11.329 2 16 18 11p11.2 TP53I11, PIG11 P Tumor protein p53-inducible protein 11 617867 REc
11.330 9 19 88 11p11.2 TYRL P Tyrosinase-like 191270 REa, A
11.331 7 21 15 11p11.2 ZNF408, EVR6, RP72 P Zinc finger protein 408 616454 REc mutation identified in 1 EVR6 family ?Exudative vitreoretinopathy 6, 616468 (3); Retinitis pigmentosa 72, 616469 (3)
11.332 12 4 08 11p11.2 ARFGAP2, ZNF289 P ADP-ribosylation factor GTPase-activating protein 2 606908 R, REc
11.333 9 3 04 11p11.2 CHST1, KSGAL6ST C Carbohydrate sulfotransferase-1 603797 A, R
11.334 4 30 15 11p11.2 RAPSN, CMS1D, CMS11, FADS P Receptor-associated protein of the synapse, 43kD 601592 REa Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3); Fetal akinesia deformation sequence, 208150 (3)
11.335 3 8 07 11q12.1 SLC43A1, LAT3, POV1 P Solute carrier family 43 (L-type amino acid transporter), member 1 603733 A
11.336 11 30 06 11p11.2 ALKBH3, PCA1, DEPC1, ABH3 C AlkB, E. coli, homolog of, 3 610603 REc
11.337 10 5 11 11q11 OR4C46 P Olfactory receptor, family 4, subfamily C, member 46 614273 REc
11.338 7 20 01 11q14.3 RNF18 P RING finger protein-18 606124 R
11.339 12 17 12 11p11.2 NDUFS3 C NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kD 603846 REa, R Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3); Mitochondrial complex I deficiency, 252010 (3)
11.340 1 31 12 11p11.2 ACCS, ACS, PHACS P 1-aminocyclopropane-1-carboxylate synthase 608405 REc
11.341 8 2 13 11p11.2 CELF1, CUGBP1, NAB50, BRUNOL2, CUGBP P CUGbp and ELAV-like family, member 1 601074 REc
11.342 5 22 14 11p11 CLLS1 C Leukemia, chronic lymphocytic, susceptibility to, 1 609630 Fd {Leukemia, chronic lymphocytic, susceptibility to, 1} (2)
11.343 12 27 01 11p11.2 PACSIN3 P Protein kinase C and casein kinase substrate in neurons 3 606513 R
11.344 5 4 12 11p11.2 F2, THPH1, RPRGL2 C Coagulation factor II (thrombin) 176930 REa, A Hypoprothrombinemia, 613679 (3); Dysprothrombinemia, 613679 (3); Thrombophilia due to thrombin defect, 188050 (3); {Stroke, ischemic, susceptibility to}, 601367 (3); {Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3) 2(Cf2)
11.345 12 15 10 11p15.5 CD81, TAPA1, CVID6 P CD81 antigen (target of antiproliferative antibody-1) 186845 REa Immunodeficiency, common variable, 6, 613496 (3) 7(Tapa1)
11.346 3 10 00 11p HYPLIP2 P Hyperlipidemia, combined, 2 604499 Fd Hyperlipidemia, combined, 2 (2)
11.347 12 15 98 11p NNO1 P Nanophthalmos 1 600165 Fd Nanophthalmos-1 (2)
11.348 8 9 99 11p15.1 RPS13 P Ribosomal protein S13 180476 Psh, R
11.349 4 4 02 11q12.1 PRG2, MBP P Proteoglycan 2 605601 R, A
11.350 4 4 02 11q12.1 PRG3, MBPH P Proteoglycan 3 606814 A
11.351 2 11 93 11q13.2 ADRBK1 C Adrenergic, beta, receptor kinase-1 109635 REa 19(Adrbk1)
11.352 9 16 03 11q14.2 ME3 P Malic enzyme 3 604626 R
11.353 12 23 15 11q12.1 TMX2 P Thioredoxin-related transmembrane protein 2 616715 REc
11.354 9 21 17 11q12.1 CTNND1, CTNND, BCDS2 P Catenin (cadherin-associated protein), delta 1 601045 A Blepharocheilodontic syndrome 2, 617681 (3) 2(Catns)
11.355 8 30 07 11q12.2 VWC1, URG11 C von Willebrand factor C and EGF domain-containing protein 611115 R, REn
11.356 9 12 91 11q12.1 TCN1, TC1 P Transcobalamin I 189905 A
11.357 1 24 09 11q12.1 C1NH, HAE1, HAE2, SERPING1 C Complement component-1 inhibitor 606860 REa, A Angioedema, hereditary, types I and II, 106100 (3); Complement component 4, partial deficiency of, 120790 (3) 2(C1nh)
11.358 5 24 13 11q12.2 CCDC86, CYCLON P Coiled-coil domain-containing protein 86 611293 REc 19(Ccdc86)
11.359 1 9 14 11q12.1 APLNR, AGTRL1, APJ P Apelin receptor 600052 Psh, A
11.360 11 5 97 11q13.1 ESRRA, ESRL1 P Estrogen-related receptor, alpha 601998 A 19(Estrra)
11.361 3 18 95 11q12.2 FEN1 P Flap structure-specific endonuclease 1 600393 A, R 19(Fen1)
11.362 6 10 09 11q13.1 KIND3, URP2, MIG2B, FERMT3 C Kindlin 3 607901 REc Leukocyte adhesion deficiency, type III, 612840 (3)
11.363 12 15 17 11q13.1 LTBP3, LTBP2, DASS, GPHYSD3 C Latent transforming growth factor beta binding protein-3 602090 Psh, A, REc Dental anomalies and short stature, 601216 (3); Geleophysic dysplasia 3, 617809 (3) 19(Ltbp2)
11.364 4 30 09 11q12.1 MIR130A, MIRN130A P Micro RNA 130A 610175 REc
11.365 1 2 08 11q13.1 NAALADL1, I100 P N-acetylated alpha-linked acidic dipeptidase-like 1 602640 A
11.366 7 14 98 11q12.1 P2RX3, P2X3 P Purinergic receptor P2X, ligand-gated ion channel, 3 600843 A 2(P2rx3)
11.367 11 2 04 11q13.4 P4HA3 P Procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit, isoform 3 608987 REc
11.368 5 24 13 11q21 PIWIL4, HIWI2, MIWI2 P PIWI-like 4 610315 REc
11.369 4 11 11 11q12 SCA20, DUP11q12, C11DUPq12 P Spinocerebellar ataxia 20 (chromosome 11q12 duplication syndrome, 260kb) 608687 Fd contiguous gene duplication syndrome Spinocerebellar ataxia 20 (4)
11.370 5 15 14 11q12.2 SLC15A3, PHT2 P Solute carrier family 15 (oligopeptide transporter), member 3 610408 REc
11.371 2 2 01 11q12.1 SSRP1, FACT P Structure-specific recognition protein 1 604328 REa
11.372 8 11 17 11q12.2 TMEM258, C11orf10 P Transmembrane protein 258 617615 REc
11.373 7 12 02 11q12.1 TNKS1BP1, TAB182, KIAA1741 P Tankyrase 1-binding protein 1, 182kD 607104 REc
11.374 2 1 01 11q12.1 UBE2L6, UBCH8 P Ubiquitin-conjugating enzyme E2L 6 603890 A
11.375 8 6 97 11q12.3 AHNAK P AHNAK nucleoprotein (desmoyokin) 103390 REa, A, REc
11.376 5 5 16 11q12.3 B3GAT3, GLCATI, JDSCD P Beta-1,3-glucuronyltransferase 3 606374 A pseudogene on chr.3 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3)
11.377 8 29 02 11q13.1 CDC42EP2, CEP2, BORG1 P CDC42 effector protein 2 606132 REc
11.378 12 15 13 11q12.2 DDB1 P Damage-specific DNA binding protein 1, 127kD 600045 A, H 19(Ddb1)
11.379 2 3 05 11q13.4 DHCR7, SLOS C Delta-7-dehydrocholesterol reductase 602858 R Smith-Lemli-Opitz syndrome, 270400 (3)
11.380 1 29 01 11q13.1 FLRT1 P Fibronectin-like domain-containing leucine-rich transmembrane protein-1 604806 A
11.381 11 19 13 11q12.3 FTH1, FTHL6, HFE5 C Ferritin, heavy polypeptide 1 134770 REa, H, REn, R mutation identified in 1 family ?Hemochromatosis, type 5, 615517 (3) 19(Fth)
11.382 2 16 16 11q13.2 KLC2, SPOAN P Kinesin, light chain 2 611729 REc, H, Fd Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3) 19(Klc2)
11.383 5 21 07 11q13.1 MARK2, EMK1 P MAP/microtubule affinity-regulating kinase 2 600526 A, REa, REn 19(Emk1)
11.384 11 29 01 11q12.1 MS4A3, HTM4, CD20L P Membrane-spanning 4-domains, subfamily A, member 3 606498 A
11.385 12 27 01 11q12.2 MS4A4A, MS4A4 P Membrane-spanning 4-domains, subfamily A, member 4A 606547 REc
11.386 11 29 01 11q12.2 MS4A5, TETM4, CD20L2 P Membrane-spanning 4-domains, subfamily A, member 5 606499 A, R
11.387 12 27 01 11q12.2 MS4A6A, MS4A6 P Membrane-spanning 4-domains, subfamily A, member 6A 606548 REc
11.388 11 27 01 11q12.2 MS4A7, CFFM4 P Membrane-spanning 4-domains, subfamily A, member 7 606502 REc
11.389 12 27 01 11q12.2 MS4A8B P Membrane-spanning 4-domains, subfamily A, member 8B 606549 REc
11.390 12 27 01 11q12.2 MS4A12 P Membrane-spanning 4-domains, subfamily A, member 12 606550 REc
11.391 12 21 03 11q12.3 NXF1, TAP, MEX67 C Nuclear RNA export factor 1 602647 REc
11.392 11 15 95 11q13.1 RELA, NFKB3 C v-rel avian reticuloendotheliosis viral oncogene homolog A (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (p65)) 164014 A, REa
11.393 12 7 03 11q12.2 C11orf9, KIAA0954 P Chromosome 11 open reading frame 9 608329 REc
11.394 12 11 02 11q13.2 DPP3 P Dipeptidyl peptidase III 606818 A
11.395 5 27 09 11q12.2 FADS1 P Fatty acid desaturase 1 606148 REc
11.396 5 27 09 11q12.2 FADS2 P Fatty acid desaturase 2 606149 REc
11.397 5 27 09 11q12.2 FADS3 P Fatty acid desaturase 3 606150 REc
11.398 2 26 08 11q12.1 MRPL16 P Mitochondrial ribosomal protein L16 611829 R
11.399 1 27 04 11q12.2 MS4A4E P Membrane-spanning 4-domains, subfamily A, member 4E 608401 REc
11.400 1 27 04 11q12.2 MS4A6E P Membrane-spanning 4-domains, subfamily A, member 6E 608402 REc
11.401 1 27 04 11q12.2 MS4A10 P Membrane-spanning 4-domains, subfamily A, member 10 608403 REc
11.402 6 22 14 11q12.3 MTA2, MTA1L1 P Metastasis-associated protein 2 603947 A
11.403 7 20 09 11q12-q13.1 PURAQTL1 P Polyunsaturated fatty acids plasma level QTL1 612795 Fd associated with rs174537 [Polyunsaturated fatty acids plasma level QTL1] (2)
11.404 3 6 01 11q14.1 RAB30 P Ras-associated protein RAB30 605693 REa, REc
11.405 5 22 14 11q12.1 CLP1, HEAB, PCH10 P Cleavage and polyadenylation factor I subunit 1, yeast, homolog of 608757 REc, Psh, A, Ch Pontocerebellar hypoplasia, type 10, 615803 (3)
11.406 12 2 14 11q12.1 DTX4, RNF155, KIAA0937 P Deltex, Drosoophila, homolog of, 4 616110 REc
11.407 7 23 13 11q12.1 FAM111A, KIAA1895, KCS2, GCLEB P Family with sequence similarity 111, member A 615292 REc Kenny-Caffey syndrome, type 2, 127000 (3); Gracile bone dysplasia, 602361 (3)
11.408 3 26 14 11q12.1 FAM111B, POIKTMP P Family with sequence similarity 111, member B 615584 REc Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3)
11.409 8 21 12 11q12.1 GLYAT, ACGNAT, CAT C Glycine-N-acyltransferase 607424 R, REc
11.410 8 21 12 11q12.1 GLYATL1 P Glycine-N-acyltransferase-like 1 614761 REc
11.411 8 21 12 11q12.1 GLYATL2 P Glycine N-acyltransferase-like 2 614762 REc
11.412 9 8 17 11q12.1 LPXN P Leupaxin 605390 R
11.413 5 6 13 11q12.1 LRRC55 P Leucine-rich repeat-containing protein 55 615213 REc
11.414 11 7 08 11q12.1 MED19 P Mediator complex subunit 19 612385 REc
11.415 8 19 13 11q12.1 MPEG1, MPG1 P Macrophage expressed gene 1 610390 R, REc
11.416 2 19 10 11p11.2 MTCH2 P Mitochondrial carrier homolog 2 613221 REc
11.417 3 25 14 11q12.1 OR5AN1 P Olfactory receptor, family 5, subfamily AN, member 1 615702 REc
11.418 8 8 13 11q12.1 OR5F1 P Olfactory receptor, family 5, subfamily F, member 1 608492 REc, A
11.419 8 8 13 11q12.1 OR5I1, OLF1 P Olfactory receptor, family 5, subfamily I, member 1 608496 REc, Psh
11.420 5 7 03 11q12.1 OSBP C Oxysterol-binding protein 167040 REa, R 19(Osbp)
11.421 5 29 12 11q12.1 PATL1, PAT1B P Protein associated with topoisomerase II, S. cerevisiae, homolog of, 1 614660 REc
11.422 5 24 13 11q12.1 RTN4RL2, NGRH1, NGR2 P Reticulon 4 receptor-like 2 610462 REc
11.423 11 18 16 11q12.1 SELENOH, SELH P Selenoprotein H 607914 REc
11.424 12 14 10 11q12.1 SMTNL1, CHASM P Smoothelin-like 1 613664 REc
11.425 1 21 11 11q12.1 STX3, STX3A P Syntaxin 3 600876 REc
11.426 12 28 08 11q12.1 YPEL4 P Yippee-like 4 609725 REc 2(Ypel4)
11.427 4 27 12 11q12.1 ZDHHC5, DHHC5, ZNF375, KIAA1748 P Zinc finger DHHC domain-containing protein 5 614586 REc
11.428 12 4 02 11q12.1 TIMM10, TIM10A, TIM10 P Translocase of inner mitochondrial membrane 10, yeast, homolog of 602251 A, R
11.429 10 23 87 11q12.1-q13.5 FNL2 P Fibronectin-like-2 135610 S, A
11.430 7 13 93 11q12.1 CNTF C Ciliary neurotrophic factor 118945 REa, A 19(Cntf)
11.431 9 8 11 11q12.2 DAGLA, KIAA0659 C Diacylglycerol lipase, alpha 614015 REc, R
11.432 7 18 14 11q12.2 DAK P Dihydroxyacetone kinase 2, S. cerevisiae, homolog of 615844 REc
11.433 2 23 09 11q12.2 PRPF19, PRP19, PSO4, NMP200 P Precursor mRNA-processing factor 19, S. cerevisiae, homolog of 608330 R, REc
11.434 7 23 15 11q12.2 PTGDR2, GPR44 P Prostaglandin D2 receptor 2 604837 A
11.435 2 24 17 11q12.2 TMEM132A, KIAA1583 P Transmembrane protein 132A 617363 REc
11.436 2 9 12 11q12.2 TMEM138, JBTS16 P Transmembrane protein 138 614459 REc Joubert syndrome 16, 614465 (3)
11.437 2 24 12 11q12.2 TMEM216, JBTS2, CORS2, MKS2 C Transmembrane protein 216 613277 REc, Fd Joubert syndrome 2, 608091 (3); Meckel syndrome 2, 603194 (3)
11.438 6 9 06 11q12.2 VPS37C P Vacuolar protein sorting 37, yeast, homolog of, C 610038 R, REc
11.439 2 11 16 11q12.2 ZP1, OOMD1 P Zona pellucida glycoprotein 1 195000 REc Oocyte maturation defect 1, 615774 (3)
11.440 3 5 18 11q12.3 CSKMT, METTL12 P Citrate synthase lysine methyltransferase 617897 REc
11.441 9 18 08 11q12.3 EEF1G, EF1G P Eukaryotic translation elongation factor 1, gamma 130593 REc
11.442 4 7 11 11q12.3 HRASLS2 C HRAS-like suppressor 2 613866 REc
11.443 11 11 14 11q12.3 INCENP P Inner centromere protein 604411 R, REc
11.444 3 23 14 11q12.3 INTS5, INT5, KIAA1698 P Integrator complex subunit 5 611349 REc
11.445 2 22 13 11q12.3 SCGB2A1, MGB2, LPNC P Secretoglobin, family 2A, member 1 (mammaglobin 2) 604398 A, REc
11.446 2 22 13 11q12.3 SCGB1D1, LPNA P Secretoglobin, family 1D, member 1 615060 REc previously mapped to 15q12-q13
11.447 2 22 13 11q12.3 SCGB1D2, LPNB P Secretoglobin, family 1D, member 2 615061 REc previously mapped to 10q23
11.448 2 22 13 11q12.3 SCGB1D4, IIS P Secretoglobin, family 1D, member 4 615062 REc
11.449 8 18 14 11q12.3 SLC22A9, OAT4, UST3 P Solute carrier family 22 (organic anion/cation transporter), member 9 607579 REc
11.450 8 18 14 11q12.3 SLC22A10, OAT5 P Solute carrier family 22 (organic anion/cation transporter), member 10 607580 REc
11.451 1 2 08 11q12.3 SLC22A24 P Solute carrier family 22, member 24 611698 REc 19(Slc22a24)
11.452 1 21 11 11q12.3 STX5, STX5A P Syntaxin 5 603189 REc
11.453 5 29 15 11q12.3 UBXN1, SAKS1 P UBX domain protein 1 616378 REc
11.454 12 1 14 11q12.3 UQCC3, C11orf83, MC3DN9 P Ubiquinol-cytochrome C reductase complex assembly factor 3 616097 REc mutation identified in 1 MC3DN9 patient ?Mitochondrial complex III deficiency, nuclear type 9, 616111 (3)
11.455 3 8 07 11q12.3 UST6 P Organic anion transporter UST6 610792 REc
11.456 3 23 02 11q12.3 MGB1, SCGB2A2 P Mammaglobin 1 (secretoglobin, family 2A, member 2) 605562 A, R
11.457 4 6 11 11q12.3-q13.1 PLA2G16, HRASLS3, HRSL3, HREV107 C Phospholipase A2, group XVI 613867 REc
11.458 10 16 14 11q12.3 SCGB1A1, UGB, CC10, CCSP C Secretoglobin, family 1A, member 1 (uteroglobin) 192020 REa, Fd, REc, A
11.459 11 24 08 11q13.3 ANO1, TMEM16A, FLJ10261 P Anoctamin 1, calcium activated chloride channel 610108 REc 7(Tmem16a)
11.460 8 26 98 11q13.1 ARL2 P ADP=ribosylation factor-like 2 601175 REc
11.461 12 11 95 11q13.4 ARRB1 C Arrestin, beta 1 107940 A
11.462 3 5 03 11q13.2 BBS1 C BBS1 gene 209901 Fd Bardet-Biedl syndrome 1, 209900 (3)
11.463 8 18 14 11q12.3 BSCL2, SPG17, HMN5, PELD C Seipin 606158 Fd Lipodystrophy, congenital generalized, type 2, 269700 (3); Silver spastic paraplegia syndrome, 270685 (3); Neuropathy, distal hereditary motor, type VA, 600794 (3); Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)
11.464 3 29 07 11q13.2 C11orf24 P Chromosome 11 open reading frame 24 610880 REc
11.465 3 23 14 11q13.1 C11orf95 P Chromosome 11 open reading frame 95 615699 REc
11.466 5 6 16 11q13.1 CAPN1, SPG76 C Calpain, large polypeptide L1 114220 REb Spastic paraplegia 76, autosomal recessive, 616907 (3)
11.467 4 20 10 11q13.2 CARNS1, ATPGD1, KIAA1394 P Carnosine synthase 1 613368 REc 19(Carns1)
11.468 2 13 14 11q13.3 CCND1, PRAD1, BCL1 C Cyclin D1 168461 REn, R, REa, A pseudogene on 11q13 {Colorectal cancer, susceptibility to}, 114500 (3); {von Hippel-Lindau syndrome, modifier of}, 193300 (3); {Multiple myeloma, susceptibility to}, 254500 (3)
11.469 5 25 00 11q13.2 CCS P Copper chaperone for superoxide dismutase 603864 A 9(Ccs)
11.470 6 8 89 11q12.2 CD5, LEU1 C CD5 antigen (p56-62) 153340 REa, A 19(Ly1)
11.471 12 7 07 11q13.2 CD248, TEM1 P CD248 antigen 606064 REa, REc
11.472 9 8 11 11q13.1 CDC42BPG, MRCKG P CDC42-binding protein kinase, gamma 613991 REc
11.473 1 8 97 11q13.1 CFL1 C Cofilin 1 (non-muscle) 601442 REn, A, Psh, R 19(Cfl1)
11.474 8 6 97 11q12.3 CHRM1 P Cholinergic receptor, muscarinic, 1 118510 REa, A, REn
11.475 2 25 16 11q13.1 COX8A C Cytochrome c oxidase, subunit VIIIA 123870 A, R, REn mutation identified in 1 COX4D patient ?Mitochondrial complex IV deficiency, 220110 (3)
11.476 10 8 98 11q13.3 CPT1A C Carnitine palmitoyltransferase I, liver 600528 Psh, A CPT deficiency, hepatic, type IA, 255120 (3)
11.477 8 5 97 11q13.1 CST6 P Cystatin-M 601891 A
11.478 9 24 08 11q13.3 CTTN, EMS1 P Cortactin 164765 RE amplified in breast cancer and squamous cell cancer
11.479 3 12 01 11q13.1 DANJC4, HSPF2 P DnaJ, E. coli, homolog of, subfamily C, member 4 (heat-shock 40kD protein 2) 604189 REc
11.480 12 18 08 11q13.1 DPF2, REQ, UBID4 C D4, zinc, and double PHD fingers family, member 2 601671 A 6(Req)
11.481 1 30 12 11q13.1 EFEMP2, FBLN4, UPH1, ARCL1B P EGF-containing fibulin-like extracellular matrix protein 2 (fibulin 4) 604633 REc Cutis laxa, autosomal recessive, type IB, 614437 (3)
11.482 5 2 01 11q13.1 EHD1 C EH domain-containing 1 protein 605888 REc, R 19(Ehd1)
11.483 9 12 93 11q13.1 FAU C Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived) 134690 A, REa, REc, R 19(Fau)
11.484 3 8 92 11q13.3 FGF4, HSTF1 C Fibroblast growth factor-4 (heparin secretory transforming protein-1; Kaposi sarcoma oncogene) 164980 A, REa, RE coamplified with FGF3 in melanoma 7(Hstf1)
11.485 1 22 07 11q13.3 FGF3, INT2 C Fibroblast growth factor-3 (oncogene INT2) 164950 REa, A, RE 35kb 5' to HST1 Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3) 7(Int2)
11.486 12 28 93 11q13.1 FOSL1 P FOS-like antigen-1 136515 REl
11.487 2 7 07 11q13.1 GAL3ST3, GAL3ST2 P Galactose-3-O-sulfotransferase 3 608234 REc
11.488 5 31 05 11q12.1 GIF, IF C Gastric intrinsic factor 609342 REa, H Intrinsic factor deficiency, 261000 (3) 19(Gif)
11.489 7 6 99 11q13.2 GSTP1, GST3 C Glutathione S-transferase pi 134660 S, A, REa, R, Fd formerly called GST1 19(Gst3)
11.490 3 15 04 11q14.1 HBXAP, RSF1 C Hepatitis B virus X-associated protein 608522 A, REc
11.491 4 23 08 11q13 HPC14 P Prostate cancer, hereditary, 14 611958 Fd associated with rs7931342 {Prostate cancer, hereditary, 14} (2)
11.492 12 9 98 11q13 IDDM4 C Insulin-dependent diabetes mellitus-4 600319 Fd {Diabetes mellitus, insulin-dependent, 4} (2)
11.493 12 8 09 11q13.1 KAT5, HTATIP, TIP60, ESA1, PLIP P K(lysine) acetyltransferase 5 601409 R, REc
11.494 3 7 01 11q13.1 KCNK4, TRAAK P Potassium channel, subfamily K, member 4 605720 R
11.495 6 6 00 11q13.1 KCNK7 P Potassium channel, subfamily K, member 7 603940 R
11.496 4 18 05 11q12.3 LGALS12 P Lectin, galactoside-binding, soluble, 12 606096 REc
11.497 9 20 99 11q13.1 MAP4K2, RAB8IP, GCK P Mitogen-activating protein kinase kinase kinase kinase 2 (RAB8-interacting protein; germinal center kinase) 603166 REc
11.498 2 9 11 11q13.1 MEN1 C Menin 613733 Fd, D linked distal to PYGM Multiple endocrine neoplasia 1, 131100 (3); Carcinoid tumor of lung (3); Parathyroid adenoma, somatic (3); Lipoma, somatic (3); Angiofibroma, somatic (3); Adrenal adenoma, somatic (3) 19(Men1)
11.499 9 26 17 11q13.3 CUPID1, LINC01488, BRCAT8 P CCND1 upstream intergenic DNA repair 1, noncoding 617696 REc
11.500 9 28 17 11q13 CUPID2 P CCND1 upstream intergenic DNA repair 2, noncoding 617697 REc
11.501 2 22 11 11q13.4 MIR326, MIRN326 P Micro RNA 326 613755 REc
11.502 4 29 02 11q13.1 MRPL49, NOF1 P Mitochondrial ribosomal protein L49 606866 REc 19(Mrpl49)
11.503 9 27 01 11q12.1 MS4A2, FCER1B C Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for, beta polypeptide) 147138 Fd, REn {Atopy, susceptibility to}, 147050 (3)
11.504 12 15 10 11q12.2 MS4A1, CD20, CVID5 C Membrane-spanning 4-domains, subfamily A, member 1 112210 REa, A, R Immunodeficiency, common variable, 5, 613495 (3) 19(Ly44)
11.505 1 7 02 11q13.1 MUS81 P Mus81, S. cerevisiae, homolog of 606591 A, REc
11.506 12 17 12 11q13.2 NDUFS8 C NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kD (NADH-coenzyme Q reductase) 602141 A, REc, R previously assigned to 3q28 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
11.507 12 14 11 11q13.2 NDUFV1, UQOR1 P NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kD 161015 REa, A Mitochondrial complex I deficiency, 252010 (3)
11.508 8 29 08 11q13.2 NPAS4, NXF P Neuronal PAS domain protein 4 608554 REc
11.509 6 6 00 11q13.1 NRXN2 P Neurexin 2 600566 REc
11.510 8 28 15 11q13.4 NUMA1 C Nuclear mitotic apparatus protein-1 164009 A, Ch fused with RARA in APL Leukemia, acute promyelocytic, somatic, 612376 (3)
11.511 12 7 07 11q13.3 ORAOV1, TAOS1 P Oral cancer overexpressed gene 1 607224 REc, H 7(Oraov1)
11.512 5 4 12 11q13 OTDD, DEL11q13, C11DELq13 P Otodental dysplasia (chromosome 11q13 deletion syndrome) 166750 Ch between rs9666584 and rs41408348 Otodental dysplasia chromosome deletion syndrome (4)
11.513 7 15 99 11q13.1 OVOL1 P Ovo, Drosophila, homolog-like, 1 602313 H, Psh, A 19(Ovol1)
11.514 10 23 87 11q13 PGA3 C Pepsinogen A3 169710 REa, RE, A
11.515 10 23 87 11q12.2 PGA4 C Pepsinogen A4 169720 REa, RE, A
11.516 10 23 87 11q12.2 PGA5 C Pepsinogen A5 169730 REa, A pter-5'HRAS--5'INS--cen
11.517 1 7 95 11q13.1 PLCB3 C Phospholipase C, beta 3 (phosphatidylinositol-specific) 600230 REn, Ch within 900kb of MEN1 19(Plcb3)
11.518 10 13 09 11q13.2 POLD4, POLDS, P12 P Polymerase, DNA-directed, delta 4 611525 R, REc
11.519 12 18 08 11q13.2 RBM14, PSP2, COAA, SIP P RNA-binding motif protein 14 612409 REc
11.520 12 29 15 11q13.1 SCYL1, NTKL, SCAR21 P SCY1-like 1 607982 REc Spinocerebellar ataxia, autosomal recessive 21, 616719 (3)
11.521 3 14 18 11q13.2 UNC93B1, IIAE1 C UNC93, C. elegans, homolog of, B1 608204 A {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
11.522 7 17 01 11q13.1 PPP1R14B, PLCB3N, PNG P Protein phosphatase 1, regulatory subunit 14B 601140 REc
11.523 8 20 98 11q13.2 PPP1CA, PPP1A C Protein phosphatase-1, catalytic subunit, alpha isoform 176875 REa, A, R 7(Ppp1a)
11.524 10 19 97 11q13.1 PPP2R5B C Protein phosphatase-2, regulatory subunit B (B56), beta isoform 601644 A, REc
11.525 1 7 02 11q13.1 PRDX5, AOEB166 P Peroxiredoxin 5 606583 R
11.526 3 9 04 11q13.1 PYGM C Phosphorylase, glycogen, muscle 608455 REb, Fd, REn McArdle disease, 232600 (3) 19(Pygm)
11.527 7 17 14 11q13.1 RASGRP2, CDC25L P Ras guanyl nucleotide-releasing protein 2 605577 REc mutation identified in 1 BDPLT18 family ?Bleeding disorder, platelet-type, 18, 615888 (3)
11.528 6 25 99 11q13.2 RBM4. LARK P RNA-binding motif protein-4 (lark, Drosophila, homolog of) 602571 A, R
11.529 12 18 13 11q13.2 RCE1 P Ras converting CAAX endopeptidase 1 605385 R, REc
11.530 2 25 15 11q12.3 RNU22 P RNA, U22 small nucleolar 603223 A, R
11.531 2 25 15 11q12.3 RNU25 P RNA, U25 small nucleolar 603224 A, R
11.532 11 11 14 11q12.3 RNU26 P RNA, U26 small nucleolar 603225 A, R
11.533 11 11 14 11q12.3 RNU27 P RNA, U27 small nucleolar 603226 A, R
11.534 11 11 14 11q12.3 RNU28 P RNA, U28 small nucleolar 603227 A, R
11.535 11 11 14 11q12.3 RNU29 P RNA, U29 small nucleolar 603228 A, R
11.536 11 1 14 11q12.3 RNU30 P RNA, U30 small nucleolar 603229 A, R
11.537 11 11 14 11q12.3 RNU31 P RNA, U31 small nucleolar 603230 A, R
11.538 7 12 13 11q12.3 ROM1, ROSP1, RP7 P Rod outer segment membrane protein-1 180721 REa, A digenic RP with RDS Retinitis pigmentosa 7, digenic, 608133 (3) 19(Rosp1)
11.539 10 22 99 11q13.1 RTN3, NSPL2 C Reticulon 3 604249 REa, R, REc pseudogene on chr.4
11.540 3 29 07 11q13.2 SAPS3, PP6R3, C11orf23, KIAA1558 C SAPS domain family, member 3 610879 Psh, REc
11.541 9 17 92 11q13 SEA C Oncogene SEA (S13 avian erythroblastosis) 165110 REa, A, R 19(Sea)
11.542 1 28 01 11q13.1 SF1, ZNF162, D11S636, ZFM1 P Splicing factor 1 (zinc finger protein-162) 601516 REf, REa, A
11.543 5 30 00 11q12.3 SLC3A2, MDU1, NACAE C Solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 158070 S, H prob. 11q13 19(Mdu1)
11.544 7 12 02 11q13.1 SLC22A11, OAT4 P Solute carrier family 22 (organic anion/cation transporter), member 11 607097 REc
11.545 7 12 02 11q13.1 SLC22A12, OAT4L, URAT1 P Solute carrier family 22 (urate transporter), member 12 607096 REc Hypouricemia, renal, 220150 (3)
11.546 3 9 98 11q13.2 SLC29A2, HNP36, DER12 P Solute carrier family 29 (nucleoside transporters), member 2 (hydrophobic nucleolar protein, 36kD) 602110 A 19(Hnp36)
11.547 7 2 02 11q13 SMAR P Spinal muscular atrophy, chronic distal, autosomal recessive 607088 Fd no mutations found in IGHMBP2 Spinal muscular atrophy, chronic distal, autosomal recessive (2)
11.548 5 25 01 11q13.1 SNX15 P Sorting nexin 15 605964 REc
11.549 9 9 13 11q13.2 SPTBN2, SCA5, SCAR14 C Spectrin, beta, nonerythrocytic, 2 604985 R, H, Fd Spinocerebellar ataxia 5, 600224 (3); Spinocerebellar ataxia, autosomal recessive 14, 615386 (3) 19(Spnb3)
11.550 12 9 91 11q13 ST3 C Suppression of tumorigenicity-3 (tumor-suppressor gene, HELA cell type) 191181 S, D Cervical carcinoma (2)
11.551 3 18 17 11q13.4 STARD10 P START domain-containing protein 10 617382 REc
11.552 1 31 01 11q13.1 STIP1, HOP P Stress-induced phosphoprotein 1 605063 R
11.553 6 6 00 11q12.2 SYT7 P Synaptotagmin 7 604146 REc
11.554 12 7 05 11q13.1 SYVN1, HRD1, KIAA1810 P Synovial apoptosis inhibitor 1 608046 R, REc
11.555 1 13 99 11q13.1 TM7SF2, ANG1 P Transmembrane 7 superfamily, member 2 603414 REc
11.556 3 14 07 11q13.1 TRPT1 P Transfer RNA phosphotransferase 1 610470 REc
11.557 10 08 08 11q13.4 UCP2, BMIQ4 P Uncoupling protein-2 601693 REc, Fd, REn {Obesity, susceptibility to, BMIQ4}, 607447 (3) 7(Ucp2)
11.558 5 31 05 11q13.4 UCP3 C Uncoupling protein-3 602044 REn, R, Psh {Obesity, severe, and type II diabetes}, 601665 (3)
11.559 11 5 98 11q12.3 UHG, U22HG P U22 host gene 603222 A, R
11.560 6 25 99 11q13.5 UVRAG P UV radiation resistance-associated gene 602493 A, Psh
11.561 10 5 15 11q12.3 BEST1, VMD2, ARB, RP50 C Bestrophin 1 607854 Fd, Psh Macular dystrophy, vitelliform, 2, 153700 (3); Bestrophinopathy, autosomal recessive, 611809 (3); Vitreoretinochoroidopathy, 193220 (3); Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3); Retinitis pigmentosa-50, 613194 (3); Retinitis pigmentosa, concentric, 613194 (3)
11.562 1 27 97 11q13.1 VEGFB, VRF P Vascular endothelial growth factor B 601398 REc, Psh
11.563 2 16 18 11q22.1 YAP1, COB1 P Yes-associated protein 1, 65kD 606608 A, REa Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 (3)
11.564 10 2 07 11q13.2 YIF1A, YIF1 P Yip1-interacting factor, S. cerevisiae, homolog of, A 611484 R, REc
11.565 2 22 11 11q13.1 ZNHIT2, C11orf5, FON P Zinc finger HIT domain containing protein 2 604575 REc
11.566 10 30 17 11q13.2 ACTN3, ACTN3D P Actinin, alpha-3 102574 REa, A [Alpha-actinin-3 deficiency], 617749 (3); [Sprinting performance], 617749 (3) 19(Actn3)
11.567 11 23 09 11q13.4 KCNE3, HOKPP, HYPP P Potassium voltage-gated channel, ISK-related subfamily, member 3 604433 R Brugada syndrome 6, 613119 (3)
11.568 6 25 99 11q13.5-q14.1 PAK1 P p21/CDC42/RAC1-activated kinase 1 602590 REc
11.569 3 25 03 11q13.4 PLEKHB1, PHR1, KPL1 P Pleckstrin homology domain-containing protein, family B, member 1 607651 A, R, H 7(Tyr)
11.570 10 23 87 11q13-q22 ESA4 C Esterase-A4 133220 S 9(Es17)
11.571 7 15 16 11q12.3 GANAB, PKD3 P Neutral alpha-glucosidase AB 104160 S Polycystic kidney disease 3, 600666 (3)
11.572 9 18 12 11q13.1 AP5B1, DKFZp761E198 P Adaptor-related protein complex 5, beta-1 subunit 614367 REc
11.573 2 17 15 11q13.1 ATG2A, KIAA0404 P Autophagy 2, S. cerevisiae, homolog of, A 616225 R, REc
11.574 2 13 14 11q13.1 ATL3, HSN1F P Atlastin 3 609369 REc Neuropathy, hereditary sensory, type IF, 615632 (3)
11.575 11 16 09 11q13.1 BAD, BCL2L8 P BCL1 antagonist of cell death 603167 REc
11.576 7 1 11 11q13.1 BANF1, BAF, NGPS P Barrier to autointegration factor 1 603811 R Nestor-Guillermo progeria syndrome, 614008 (3)
11.577 1 15 13 11q13.1 BATF2, SARI P Basic leucine zipper transcription factor, ATF-like 2 614983 REc
11.578 10 26 12 11q13.2 CABP2, DFNB93 C Calcium-binding protein 2 607314 A, REn Deafness, autosomal recessive 93, 614899 (3)
11.579 6 21 15 11q13.2 CABP4, CRSD, CSNB2B P Calcium-binding protein 4 608965 REc Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)
11.580 11 3 11 11q13.1 CATSPER1, CATSPER, SPGF7 P Cation channel, sperm-associated, 1 606389 REc Spermatogenic failure 7, 612997 (3)
11.581 6 12 17 11q13.1 CATSPERZ, TEX40 P Cation channel, sperm-associated, auxiliary subunit zeta 617511 REc, H 11(Catsperz)
11.582 6 22 14 11q13.1 DIPA P Delta antigen-interacting protein A 605360 R, REc
11.583 8 30 11 11q13.1 CCDC88B, GIPIE P Coiled-coil domain-containing protein 88B 611205 REc
11.584 4 5 11 11q13.1 CDCA5, SORORIN P Cell division cycle-associated protein 5 (sororin) 609374 R, REc
11.585 8 19 13 11q13.2 CTSF, CLN13 P Cathepsin F 603539 A, REa Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
11.586 2 12 99 11q13.1 CTSW P Cathepsin W 602364 A
11.587 9 20 14 11q13.1 DRAP1 P DR1-associated protein 1 602289 REc
11.588 12 18 14 11q13.1 FAM89B, MTVR, LRAP25 P Family with sequence similarity 89, member B 616128 REc 19(Fam89b)
11.589 11 16 06 11q13.3 FGF19 P Fibroblast growth factor 19 603891 REc 7(Fgf15)
11.590 9 16 16 11q13.1 FIBP, TROFAS P Fibroblast growth factor, acidic, intracellular binding protein 608296 A Thauvin-Robinet-Faivre syndrome, 617107 (3)
11.591 9 27 17 11q13.1 GPHA2, GPA2 P Glycoprotein hormone, alpha-2 609651 REc
11.592 7 15 09 11q13.2 LRFN4, SALM3 P Leucine-rich repeat and fibronectin type III domain-containing protein 4 612810 REc, H 19(Lrfn4)
11.593 2 25 15 11q13.1 MACROD1, LRP16 P Macro domain-containing 1 610400 R, REc
11.594 9 26 16 11q13.1 MAJIN, C11orf85 P Membrane-anchored junction protein 617130 REc
11.595 5 19 09 11q13.1 MALAT1, PRO1073 C Metastasis-associated lung adenocarcinoma transcript 1 607924 Ch, REc fused with TFEB in renal tumors
11.596 3 23 09 11q13.1 MIR192, MIRN192 P Micro RNA 192 610939 REc
11.597 3 23 09 11q13.1 MIR194-2, MIRN194-2 P Micro RNA 194-2 610941 REc
11.598 3 1 01 11q13.3 MYEOV P Myeloma overexpressed gene 605625 A
11.599 7 11 16 11q13.1 NEAT1, TNCRNA C Noncoding nuclear-enriched abundant transcript 1 612769 REc, H 19(Ncrna00084)
11.600 6 5 08 11q13.1 OTUB1, OTU1, OTB1 P OTU domain-containing ubiquitin aldehyde-binding protein 1 608337 REc
11.601 7 29 16 11q13.1-q13.2 PACS1, SHMS, MRD17 P Phosphofurin acidic cluster sorting protein 1 607492 REc Schuurs-Hoeijmakers syndrome, 615009 (3)
11.602 8 31 17 11q13.1 PCNX3 P Pecanex, Drosophila, homolog of, 3 617657 REc 19(Pcnx3)
11.603 10 15 97 11q12.3 POLR2G P Polymerase (RNA) II (DNA directed) polypeptide G 602013 R, REc
11.604 2 4 09 11q13.2 RAB1B P Ras-associated protein RAB1B 612565 REc
11.605 10 12 14 11q13.1 RCOR2 P Rest corepressor 2 616019 REc
11.606 5 25 13 11q13.1 RPS6KA4, RSKB, MSK2 P Ribosomal protein S6 kinase, 90kD, 4 603606 REc
11.607 9 17 09 11q12.2 SDHAF2, SDH5, PGL2 P Succinate dehydrogenase complex assembly factor 2 613019 REc, Fd Paragangliomas 2, 601650 (3)
11.608 1 2 08 11q13.1 SLC22A20, OAT6 P Solute carrier family 22, member 20 611696 REc 19(Slc22a20)
11.609 3 12 07 11q13.1 SLC25A45 P Solute carrier family 25, member 45 610825 REc 19(Slc25a45)
11.610 9 8 11 11q13.1 SPDYC, RINGOC P Speedy, xenopus, homolog of, C 614030 REc
11.611 3 8 07 11q13.2 TBC1D10C, CARABIN P TBC1 domain family, member 10C 610831 REc
11.612 4 29 14 11q13.1 VPS51, ANG2 P Vacuolar protein sorting 51, S. cerevisiae, homolog of 615738 REc
11.613 9 13 01 11q13.2 BRMS1 P Breast cancer metastasis suppressor 1 606259 A
11.614 6 25 99 11q13.2 RAD9A, RAD9 P RAD9, S. pombe, homolog of 603761 A, RE
11.615 2 27 03 11q12.3 SLC22A6, OAT1, PAHT C Solute carrier family 22 (organic anion transporter), member 6 607582 REa, R, A
11.616 12 13 00 11q13.2 TBX10 P T-box 10 604648 A, REc 19(Tbx10)
11.617 3 23 93 11q13.1 FKBP2 P FK506-binding protein-2, 13kD 186946 A
11.618 1 8 95 11q13.1 MAP3K11, MLK3, PTK1, SPRK P Mitogen-activated protein kinase kinase kinase 11 600050 A
11.619 1 5 12 11q13.2 ACY3, HCBP1 P Aminoacylase 3 614413 REc 19(Acy3)
11.620 4 6 13 11q13.2 ANKRD13D P Ankyrin repeat domain-containing protein 13D 615126 REc
11.621 1 11 18 11q13.2 B4GAT1, B3GNT1, IGNT, IGAT, MDDGA13 P Beta-1,4glucuronyltransferase 1 605517 R, REc Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3)
11.622 12 1 14 11q13.2 C11orf80 C Chromosome 11 open reading frame 80 616109 A, REc
11.623 5 24 13 11q13.2 CNIH2, CNIL P Cornichon, Drosophila, homolog of, 2 611288 REc
11.624 7 22 11 11q13.2 CHKA, CHK P Choline kinase, alpha 118491 REc
11.625 1 24 06 11q13.2 CORO1B P Coronin 1B 609849 REc 19(Coro1b)
11.626 12 5 17 11q13.2 KMT5B, SUV420H1, CGI85, MRD51 P Lysine methyltransferase 5B 610881 REc Mental retardation, autosomal dominant 51, 617788 (3)
11.627 3 31 09 11q13.3 MRGPRD, MRGD P Mas-related G protein-coupled receptor family, member D 607231 REc
11.628 3 31 09 11q13.3 MRGPRF, MRGF, RTA P Mas-related G protein-coupled receptor family, member F 607233 REc
11.629 2 28 08 11q13.3 MRPL21 P Mitochondrial ribosomal protein L21 611834 REc
11.630 3 5 08 11q13.4 MRPL48 P Mitochondrial ribosomal protein L48 611853 REc pseudogene on 6
11.631 12 5 03 11q13.4 NADSYN1 P NAD synthetase 1 608285 R, REc
11.632 9 2 12 11q13.2 PELI3 P Pellino, Drosophila, homolog of, 3 609827 REc
11.633 10 15 07 11q13.1 RNASEH2C, AYP1, FLJ20974, AGS3 P Ribonuclease H2, subunit C 610330 REc, Fd Aicardi-Goutieres syndrome 3, 610329 (3)
11.634 4 3 12 11q13.2 SSH3 P Slingshot, Drosophila, homolog of, 3 606780 R
11.635 6 7 10 11q13.2 SYT12, SRG1 P Synaptotagmin 12 606436 REc
11.636 9 24 08 11q13.3 TPCN2, TPC2, SHEP10 C Two-pore segment channel 2 612163 REc [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
11.637 2 2 01 11q13.3 MTL5, TESMIN P Metallothionein-like 5, testis-specific 604374 A 19(Mtl5)
11.638 1 5 15 11q13.3 IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6, CMT2S P Immunoglobulin mu binding protein 2 600502 A Neuronopathy, distal hereditary motor, type VI, 604320 (3); Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3) 19(Ighmbp2)
11.639 9 27 17 11q13.2 AIP, XAP2, ARA9, PITA1 P Aryl hydrocarbon receptor-interacting protein 605555 REa, A Pituitary adenoma 1, multiple types, 102200 (3); Pituitary adenoma predisposition, 102000 (3)
11.640 11 10 14 11q13.2 CLCF1, BSF3, CLC, CISS2 C Cardiotrophin-like cytokine 607672 A, R Cold-induced sweating syndrome 2, 610313 (3)
11.641 9 1 16 11q13.4 DNAJB13, TSARG6, CILD34 P DNAJ/HSP40 homolog, subfamily B, member 13 610263 REc Ciliary dyskinesia, primary, 34, 617091 (3)
11.642 3 10 11 11q13.3 FADD C FAS-associating protein with death domain 602457 REa, A Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 (3)
11.643 2 26 08 11q13.2 MRPL11 P Mitochondrial ribosomal protein L11 611826 R
11.644 8 21 07 11q13.3 PPFIA1, LIP1 P Protein-tyrosine phosphatase, receptor-type, F polypeptide-interacting protein alpha-1 611054 R, REc
11.645 8 28 97 11q13.2 PTPRCAP, LPAP P Protein tyrosine phosphatase, receptor type, c polypeptide-associated protein 601577 A
11.646 10 17 05 11q13.1 SIPA1, SPA1 C Signal-induced proliferation-associated gene-1 602180 A, REc, H 19(Spa1)
11.647 12 23 05 11q13.4 XRRA1 P X-ray radiation resistance-associated 1 609788 REc
11.648 11 24 08 11q13.4 LRTOMT, LRTOMT1, LRTOMT2, DFNB63 P Leucine-rich transmembrane O-methyltransferase 612414 REc, REn Deafness, autosomal recessive 63, 611451 (3) 7(Lrrc51, Tomt)
11.649 3 20 03 11q13.4 PHOX2A, ARIX, CFEOM2 C Paired-like (astraless) homeobox 2a 602753 REa, A, Fd Fibrosis of extraocular muscles, congenital, 2, 602078 (3) 7(Arix)
11.650 9 7 10 11q13.3-q13.4 SHANK2, CORTBP1, AUTS17 P SH3 and multiple ankyrin repeat domains 2 603290 R, REc {Autism susceptibility 17}, 613436 (3)
11.651 3 23 93 11q13.3-q13.4 ZNF126 P Zinc finger protein-126 (HZF-2) 194633 A
11.652 10 12 09 11q13.4 FOLR1 C Folate receptor-1, adult 136430 REa, A, Fd, REn telomeric of FGF3 Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
11.653 10 20 92 11q13.4 FOLR2 P Folate receptor-2 (fetal) 136425 A, REn 23kb from FOLR1
11.654 7 13 15 11q13.2 GAL, GALN, GLNN, ETL8 P Galanin 137035 Psh, A mutation identified in 1 ETL8 family ?Epilepsy, familial temporal lobe, 8, 616461 (3) 19(Glnn)
11.655 3 18 95 11q13.4 RNU15A P RNA, U15a small nucleolar 600455 Psh, A, REn processed from intron of RPS3
11.656 3 18 95 11q13.4 RPS3 P Ribosomal protein S3 600454 Psh, A, REn
11.657 7 13 12 11q13.4 ANAPC15, APC15 P Anaphase-promoting complex, subunit 15 614717 REc
11.658 2 23 17 11q13.4 ARAP1, CENTD2, KIAA0782 P ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 606646 R, REc
11.659 7 22 16 11q13.4 ARHGEF17, RHOGEF17, TEM4, KIAA0337 P Rho guanine nucleotide exchange factor 17 617043 R, REc
11.660 8 22 14 11q13.4 C2CD3, OFD14 P C2 calcium-dependent domain-containing protein 3 615944 REc mutation identified in 1 OFD14 patient and 1 OFD14 fetus ?Orofaciodigital syndrome XIV, 615948 (3)
11.661 1 12 07 11q13.4 CHCHD8, E2IG2 P Coiled-coil-helix-coiled-coil-helix domain containing 8 608016 REc, R
11.662 12 2 09 11q13.4 CHRDL2, CHL2, BNF1 P Chordin-like 2 613127 REc, H 7(Chrdl2)
11.663 3 23 15 11q13.4 CLPB, SKD3, MEGCANN, MGCA7 P Caseinolytic peptidase B 616254 REc 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)
11.664 12 18 14 11q13.4 FAM86C1 P Family with sequence similarity 86, member C1 616124 REc
11.665 7 6 17 11q13.4 FCHSD2, KIAA0769, NWK P FCH and double SH3 domains protein 2 617556 REc, H 7(Fchsd2)
11.666 9 27 17 11q13.4 FOLR3 P Folate receptor 3 602469 REc
11.667 4 22 15 11q13.4 RAM168A, TCRP1, KIAA0280 C Family with sequence similarity 168, member A 616316 Psh, REc
11.668 8 22 13 11q13.4 IL18BP P Interleukin 18-binding protein 604113 REc
11.669 2 5 15 11q13.4 LAMTOR1, C11orf59, PDRO P Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 1 613510 REc
11.670 9 15 17 11q13.4 LIPT2 C Lipoyl(octanoyl) transferase 2 617659 REc Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3)
11.671 2 22 18 11q13.2 LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4, PCLD4 C Low density lipoprotein receptor-related protein-5 603506 H, A, R Osteoporosis-pseudoglioma syndrome, 259770 (3); [Bone mineral density variability 1], 601884 (3); Hyperostosis, endosteal, 144750 (3); van Buchem disease, type 2, 607636 (3); Osteosclerosis, 144750 (3); {Osteoporosis}, 166710 (3); Exudative vitreoretinopathy 4, 601813 (3); Osteopetrosis, autosomal dominant 1, 607634 (3); Polycystic liver disease 4 with or without kidney cysts, 617875 (3) 19(Lrp5)
11.672 3 7 13 11q13.4 MIR139, MIR139-3p P Micro RNA 139 615017 REc
11.673 5 25 13 11q13.4 PDE2A P Phosphodiesterase 2A 602658 REc
11.674 2 18 08 11q13.4 PGM2L1 P Phosphoglucomutase 2-like 1 611610 R, REc
11.675 9 10 07 11q13.4 PPME1 P Protein phosphatase methylesterase 1 611117 R, REc
11.676 10 12 90 11q13.4 RAB6A, RAB6 P Oncogene RAB6 179513 A, REc previously assigned to 2q14-q21
11.677 9 18 08 11q13.4 RELT, TNFRSF19L P Receptor expressed in lymphoid tissues 611211 R, REc
11.678 4 20 04 11q13.5 EMSY, C11orf30 P EMSY gene 608574 A, R, REn 100kb from GARP
11.679 3 3 03 11q14.1 GAB2 C GRB2-associated binding protein 2 606203 R, A 7(Gab2)
11.680 2 19 10 11q13.4-q13.5 GDPD5, GDE2, PP1665 P Glycerophosphodiester phosphodiesterase domain-containing protein 3 609632 REc
11.681 8 25 04 11q13.2 PC C Pyruvate carboxylase 608786 REa, H, A Pyruvate carboxylase deficiency, 266150 (3) 19(Pc)
11.682 6 26 00 11q13.2 TCIRG1, TIRC7, OC116, OPTB1 C T-cell immune regulator 1 604592 A, Fd, H Osteopetrosis, autosomal recessive 1, 259700 (3) 19(oc)
11.683 1 9 94 11p14.1 KCNA4, KCNA8 C Potassium voltage-gated channel, shaker-related subfamily, member 4 176266 REa, A, H other map to 11p 2(Kcna4)
11.684 3 23 93 11q13.5 OMP P Olfactory marker protein 164340 REa, A 7(Omp)
11.685 11 10 17 11q13.5 ACER3, APHC, PHCA, PLDECO P Alkaline ceramidase 3 617036 REc mutation identified in 1 PLDECO family ?Leukodystrophy, progressive, early childhood-onset, 617762 (3)
11.686 10 12 09 11q13.5 ATOD7 P Dermatitis, atopic, 7 613064 Fd associated with rs7927894 {Dermatitis, atopic, susceptibility to, 7} (2)
11.687 2 18 16 11q13.5 DGAT2 P Diacylglycerol O-acyltransferase 2 606983 R, REc
11.688 10 4 91 11q13.4 KRTAP5-9, KRN1 C Keratin associated protein 5-9 148021 A, R
11.689 6 21 12 11q13.5 LRRC32, GARP, D11S833E C Leucine rich repeat containing 32 137207 A, REn 7(Garp)
11.690 9 27 17 11q13.5 MAP6, MTAP6, STOP, KIAA1878 C Microtubule-associated protein 6 601783 R, REc, A
11.691 8 3 12 11q13.5 MOGAT2, MGAT2 P Monoacylglycerol O-acyltransferase 2 610270 REc
11.692 11 26 97 11q13.5 MYO7A, USH1B, DFNB2, DFNA11 C Myosin VIIA 276903 Fd Usher syndrome, type 1B, 276900 (3); Deafness, autosomal recessive 2, 600060 (3); Deafness, autosomal dominant 11, 601317 (3) 7(sh1, Myo7a)
11.693 3 9 00 11q13.4 NEU3, SIAL3 P Neuraminidase 3 (membrane sialidase; sialidase 3) 604617 A
11.694 7 15 99 11q13.4 P2RY2, P2Y2, P2U C Purinergic receptor P2Y, G-protein coupled, 2 600041 Psh, A
11.695 7 15 99 11q13.4 P2RY6, P2Y6 P Pyrimidinergic receptor P2Y, G protein-coupled, 6 602451 Psh, A
11.696 7 14 14 11q13.5 PRKRIR P PRKR inhibitor, repressor of 607374 REc
11.697 10 12 16 11q13.5 SERPINH1, SERPINH2, PPROM, CBP2, CBP1, OI10 P Serpin peptidase inhibitor, clade H, member 1 600943 A {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3); Osteogenesis imperfecta, type X, 613848 (3)
11.698 6 9 98 11q14.1 THRSP C Thyroid hormone responsive SPOT14, rat, homolog of 601926 A
11.699 1 12 07 11q13.5 TSKU, E2IG4, TSK P Tsukushin 608015 REc
11.700 6 25 99 11q13.5 WNT11 P Wingless-type MMTV integration site family, member 11 603699 A, Psh
11.701 3 9 98 11q14.1 CLNS1A, CLNS1B P Chloride channel, nucleotide-sensitive, 1A 602158 A CLNS1B on 6p12.1-q13 = pseudogene?
11.702 11 21 02 11q14.2 RAB38 C Ras-family, member RAB38 606281 R, H, REc 7(Rab38, cht)
11.703 3 1 06 11q14.1 AQP11, AQPX1 P Aquaporin 11 609914 REc
11.704 7 22 13 11q13.5 B3GNT6 P Beta-1,3-N-acetylglucosaminyltransferase 6 615315 REc
11.705 2 21 14 11q13.5 CAPN5, HTRA3, VRNI C Calpain 5 602537 R, Fd Vitreoretinopathy, neovascular inflammatory, 193235 (3)
11.706 4 17 07 11q14 GCRG224 P Gastric cancer-related gene 224 610888 REc
11.707 8 27 15 11q14.2 PICALM, CALM, CLTH, LAP P Phosphatidylinositol-binding clathrin assembly protein 603025 Ch fuses with AF10 in t(10;11) Leukemia, acute myeloid, somatic, 601626 (3)
11.708 6 9 98 11q14.1 PRCP, PCP P Prolylcarboxypeptidase (angiotensinase C) 176785 Psh, REc, R
11.709 10 28 02 11q14 SLEH1 P Systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 607279 Fd {Systemic lupus erythematosus with hemolytic anemia} (2)
11.710 7 20 09 11q14.1 SYTL2, SLP2, SLP2A, EXO4, KIAA1597 P Synaptotagmin-like 2 612880 R, REc
11.711 12 14 98 11q14-q21 SCZD2 L Schizophrenia susceptibility locus, chromosome 11-related 603342 Ch {?Schizophrenia}, 181500 (2)
11.712 8 25 14 11q14.2 FZD4, EVR1 C Frizzled, Drosophila, homolog of, 4 604579 A, Fd Exudative vitreoretinopathy 1, 133780 (3); Retinopathy of prematurity, 133780 (3)
11.713 10 8 13 11q14.3 TYR, SHEP3, CMM8, OCA1A, ATN C Tyrosinase 606933 REa, A, H, F Albinism, oculocutaneous, type IA, 203100 (3); Waardenburg syndrome/albinism, digenic, 103470 (3); Albinism, oculocutaneous, type IB, 606952 (3); [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3); {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3); [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3) 7(Tyr)
11.714 5 15 08 11q14-q22 IHPS3 P Pyloric stenosis, infantile hypertrophic, 3 612017 Fd max lod at rs541821 Pyloric stenosis, infantile hypertrophic, 3 (2)
11.715 3 23 14 11q14.1 INTS4, INT4 P Integrator complex subunit 4 611348 REc
11.716 2 25 15 11q14.1 NARS2, COXPD24 P Asparaginyl-tRNA synthetase 2 612803 REc Combined oxidative phosphorylation deficiency 24, 616239 (3)
11.717 5 25 13 11q14.1 NDUFC2 P NADH-ubiquinone oxidoreductase 1, subunit C2 603845 REc
11.718 9 16 12 11q14.1 PCF11, KIAA0824 P PCF11, yeast, homolog of 608876 REc
11.719 11 22 17 11q14.1 TENM4, ODZ4, TNM4, DOC4, KIAA1302, ETM5 P Teneurin transmembrane protein 4 610084 REc, R, H Essential tremor, hereditary, 5, 616736 (3) 7(Odz4)
11.720 8 1 16 11q14.1 TMEM126B P Transmembrane protein 126B 615533 REc Mitochondrial complex I deficiency, 252010 (3)
11.721 12 21 12 11q14.2 CTSC, CPPI, PALS, PLS, HMS, PDON1, JPD C Cathepsin C 602365 A, REc, Fd Papillon-Lefevre syndrome, 245000 (3); Haim-Munk syndrome, 245010 (3); Periodontitis 1, juvenile, 170650 (3) 7(Ctsc)
11.722 9 2 09 11q14.1 TMEM126A, OPA7 P Transmembrane protein 126A 612988 REc Optic atrophy 7, 612989 (3)
11.723 8 9 17 11q14.2 HIKESHI, C11orf73, HLD13 P Hikeshi 614908 REc Leukodystrophy, hypomyelinating, 13, 616881 (3)
11.724 5 19 15 11q14.2 TMEM135, PMP52 P Transmembrane protein 135 616360 REc
11.725 4 19 12 11q14.2-q14.3 GRM5, MGLUR5 P Glutamate receptor, metabotropic, 5 604102 REc 7(Grm5)
11.726 7 12 02 11q14.3 NOX4, RENOX C NADPH oxidase 4 605261 REc, A
11.727 7 11 17 11q14.2 EED, WAIT1, COGIS P Embryonic ectoderm development protein, mouse, homolog of 605984 A Cohen-Gibson syndrome, 617561 (3)
11.728 8 3 12 11q13.2 RHOD, ARHD, RHOHP1 P Ras homolog gene family, member D 605781 R
11.729 3 24 11 11q21 SLC36A4, PAT4 P Solute carrier family 36, member 4 613760 REc
11.730 1 18 11 11q14.3 UBTFL1, HMGPI P Upstream binding transcription factor (RNA polymerase I)-like 1 613696 REc
11.731 12 17 08 11q14.3 FAT3 C FAT tumor suppressor, Drosophila, homolog of, 3 612483 R, REc
11.732 1 2 08 11q14.3 NAALAD2 P N-acetylated alpha-linked acidic dipeptidase 2 611636 A
11.733 5 29 12 11q21 AMOTL1, JEAP P Angiomotin-like 1 614657 REc
11.734 7 14 14 11q21 C11orf54, PTOD012 P Chromosome 11 open reading frame 54 615810 REc
11.735 9 21 11 11q21 C11orf75, FN5 C FN5, pufferfish, homolog of 609477 R, Psh
11.736 7 28 11 11q21 CEP57, PIG8, TSP57, KIAA0092, MVA2 P Centrosomal protein 57kD 607951 REc Mosaic variegated aneuploidy syndrome 2, 614114 (3)
11.737 10 25 17 11q21 CEP295, KIAA1731 P Centrosomal protein, 295kD 617728 REc
11.738 10 11 16 11q21 DEUP1, CCDC67 P Deuterosome assembly protein 1 617148 REc
11.739 6 25 99 11q14.1 DLG2 P Discs large, Drosophila, homolog of, 2 (channel-associated protein of synapses, 110kD) 603583 R, REc
11.740 4 22 05 11q21 GPR83, GIR, GPR72 P G protein-coupled receptor 83 605569 R 9(Gpr83)
11.741 4 29 14 11q21 FOLR4 C Folate receptor 4 615737 REc 9(Folr4)
11.742 5 19 94 11q21 FUT4, FCT3A, CD15 C Fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 104230 S, REa, R 9(Fut4)
11.743 12 28 08 11q21 JMJD2D P Jumonji domain-containing protein 2D 609766 REc, REn
11.744 11 3 98 11q21 JRKL, HHMJG P Jerky, mouse, homolog-like 603211 A
11.745 9 29 15 11q21 KDM4E, JMJD2E P Lysine-specific demethylase 4E 616581 REc
11.746 3 3 03 11q21 MAML2, MAM3 P Mastermind-like 2 607537 Ch t(11;19) Mucoepidermoid salivary gland carcinoma (3)
11.747 12 21 10 11q21 MED17, CRSP6, CRSP77, TRAP80, DRIP80 P Mediator complex subunit 17 603810 R, REc Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
11.748 12 29 99 11q21 MRE11A, MRE11, ATLD P Meiotic recombination 11, S. cerevisiae, homolog A of 600814 REa, A Ataxia-telangiectasia-like disorder 1, 604391 (3)
11.749 8 8 13 11q21 PANX1, PX1 P Pannexin 1 608420 REc, R
11.750 5 13 03 11q21 SEST3 P Sestrin 3 607768 A 10(Sest3)
11.751 7 16 09 11q21 TAF1D, RAFI41, JOSD3 P TATA box-binding protein-associated factor 1D 612823 REc
11.752 2 21 10 11q21-q22 FGQTL3 P Fasting plasma glucose level QTL 3 613233 Fd associated with rs10830963 [Fasting plasma glucose level QTL 3] (2)
11.753 8 18 98 11q22.3 GUCY1A2, GUC1A2 P Guanylate cyclase 1, soluble, alpha 2 601244 A
11.754 9 29 96 11q22.2 MMP7 C Matrix metalloproteinase 7 (matrilysin, uterine) 178990 H, REa, Psh, A
11.755 11 15 94 11q22.2 MMP8, CLG1 P Matrix metalloproteinase 8 (neutrophil collagenase) 120355 A
11.756 3 30 12 11q14.3 MTNR1B P Melatonin receptor 1B 600804 REa {Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
11.757 9 9 13 11q21 MIR1260B P Micro RNA 1260B 615372 REc
11.758 7 6 05 11q22.1 TRPC6, TRP6, FSGS2 C Transient receptor potential channel-6 603652 A, Fd Glomerulosclerosis, focal segmental, 2, 603965 (3)
11.759 10 17 02 11q22.1 CNTN5, NB2 P Contactin 5 607219 A
11.760 4 1 03 11q22.1 ANGPTL5 P Angiopoietin-like 5 607666 REc
11.761 3 21 14 11q22.3 CARD16, COP1 P Caspase recruitment domain-containing protein 16 615680 REn
11.762 10 27 92 11q22.3 FDX1, ADX C Ferredoxin-1 (adrenodoxin) 103260 REa, A pseudogene on 20q11-q12
11.763 8 1 05 11q22.3 INCA P Inhibitory caspase recruitment domain protein 609490 REc
11.764 5 28 03 11q21 MTMR2, CMT4B1 C Myotubularin-related protein 2 603557 A, R, Psh Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
11.765 10 21 02 11q22.1 PGR C Progesterone receptor 607311 REa, A, REb 11q13 = earlier regionalization ?Progesterone resistance, 264080 (2) 9(Pgr)
11.766 12 19 11 11q21 SRSF8, SFRS2B, SRp46 P Splicing factor, arginine/serine-rich, 8 603269 A
11.767 9 22 98 11q22.2 API2, HAIP1 P Apoptosis inhibitor-2 601721 A fused with MALT1 in MALT lymphoma
11.768 7 6 99 11q22.2 API1, HIAP2 P Apoptosis inhibitor-1 601712 A
11.769 11 4 98 11q24.2 CHEK1, CHK1 P Checkpoint kinase 1, S. pombe, homolog of 603078 R
11.770 2 17 09 11q24.1 CRTAM P Cytotoxic and regulatory T-cell molecule 612597 REc, H 9(Crtam)
11.771 1 7 99 11q22.3 CUL5, VACM1 P Cullin-5 (vasopressin-activated calcium-mobilizing receptor-1) 601741 REc
11.772 4 30 96 11q22.3 DDX10 P DEAD/H box-10 (RNA helicase) 601235 REa, Ch 400kb telomeric to ATM; pseudogene on 9q21-q22; fused with NUP98 in AML
11.773 2 16 17 11q22.3 GRIA4, GLUR4, NEDSGA P Glutamate receptor, ionotropic, AMPA 4 138246 Psh, A Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3) 9(Glur4)
11.774 3 9 98 11q23.1 HSPB2 P Heat-shock 27kD protein-2 602179 REc
11.775 6 24 08 11q22.2 MMP1, CLG C Matrix metalloproteinase 1 (interstitial collagenase) 120353 REn COPD, rate of decline of lung function in, 606963 (3); {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
11.776 5 28 98 11q22.3 SLN P Sarcolipin 602203 Psh, R
11.777 10 15 98 11q23.1 PPP2R1B P Protein phosphatase 2, structural/regulatory subunit A, beta 603113 REc, R Lung cancer, 211980 (3)
11.778 6 27 08 11q23.3 TECTA, DFNA8, DFNA12, DFNB21 C Tectorin, alpha 602574 Psh, REc Deafness, autosomal dominant 8/12, 601543 (3); Deafness, autosomal recessive 21, 603629 (3)
11.779 4 24 90 11q22-qter ANC L Anal canal carcinoma 105580 Ch 3p22 also deleted ?Anal canal carcinoma (2)
11.780 8 12 14 11q22.1 ARHGAP42, GRAF3 C Rho GTPase-activating protein 42 615936 REc
11.781 6 1 12 11q22.1 KIAA1377 P KIAA1377 gene 614634 R, REc
11.782 7 9 06 11q22.2 TMEM123, PORIMIN P Transmembrane protein 123 606356 REc
11.783 8 20 98 11q22.3 CASP1, IL1BC C Caspase 1, apoptosis-related cysteine protease (interleukin-1, beta convertase) 147678 REa, A 9(Ilb1bc)
11.784 3 16 99 11q22.3 CASP4 P Caspase 4, apoptosis-related cysteine protease 602664 REc
11.785 3 16 99 11q22.3 CASP5 P Caspase 5, apoptosis-related cysteine protease 602665 REc
11.786 6 25 99 11q23.1 IL18, IGIF P Interleukin-18 600953 R, Psh
11.787 5 19 97 11q22.2 MMP12 P Matrix metalloproteinase 12 (macrophage elastase) 601046 A
11.788 12 6 16 11q22.3 AASDHPPT P Alpha-aminoadipate semialdehyde dehydrogenase-phosphopantetheinyl transferase 607756 REc
11.789 3 16 10 11q22.3 ALKBH8, ABH8 P AlkB, E. coli, homolog of, 8 613306 REc
11.790 1 27 16 11q22.3 ATM, ATA, AT1 C Ataxia-telangiectasia mutated (includes complementation groups A, C, D, and E) 607585 Fd, C, M Ataxia-telangiectasia, 208900 (3); Lymphoma, B-cell non-Hodgkin, somatic (3); {Breast cancer, susceptibility to}, 114480 (3); Lymphoma, mantle cell, somatic (3); T-cell prolymphocytic leukemia, somatic (3) 9(Atm)
11.791 5 5 17 11q23.3 ATP5JG P ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G 617473 REc
11.792 3 21 14 11q22.3 CARD18, ICEBERG P Caspase recruitment domain-containing protein 18 605354 REc
11.793 5 31 05 11q22.3 CASP12, CASP12P1 P Caspase 12, apoptosis-related cysteine protease 608633 REc {Sepsis, susceptibility to} (3)
11.794 8 26 15 11q22.3 DCUN1D5, SCCRO5 P DCN1 domain-containing protein 5 616522 REc, Ch
11.795 2 11 14 11q22.3 DYNC2H1, DNCH2, DHC2, ATD3, SRPS2B, SRTD3 P Dynein, cytoplasmic-2, heavy chain-1 603297 Psh, R, REc 1 patient showed heterozygous NEK2 and DYNC2H1 mutations Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
11.796 12 10 13 11q22.3 ELMOD1 P ELMO/CED12 domain-containing protein 1 615456 REc
11.797 1 24 13 11q22.3 EXPH5, SLAC2B, KIAA0624 P Exophilin 5 612878 R, REc Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3)
11.798 1 7 95 11q23.3 GRIK4 P Glutamate receptor, ionotropic, kainate 4 600282 REa, A 9(Grik4)
11.799 8 1 16 11q22.2 MMP13, CLG3, MANDP1, MDST C Matrix metalloproteinase 13 (collagenase 3) 600108 A, REn, Fd Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3); Metaphyseal anadysplasia 1, 602111 (3); Metaphyseal dysplasia, Spahr type, 250400 (3)
11.800 1 12 99 11q22.3 NPAT, E14 P Nuclear protein, ataxia-telangiectasia locus 601448 REn, REc
11.801 12 28 08 11q22.3 PDGFD, SCDGFB, IEGF P Platelet-derived growth factor D 609673 REc, R
11.802 1 9 13 11q22.3 ZC3H12C, MCPIP3 P Zinc finger CCCH domain-containing protein 12C 615001 REc
11.803 7 13 94 11q22.2 MMP10, STMY2 P Matrix metalloproteinase 10 (stromelysin 2) 185260 A
11.804 8 4 09 11q22.2 MMP20, AI2A2 P Matrix metalloproteinase-20 (enamelysin) 604629 A Amelogenesis imperfecta, type IIA2, 612529 (3)
11.805 10 29 03 11q22.3 ACAT1 C Acetyl-Coenzyme A acetyltransferase-1 (acetoacetyl Coenzyme A thiolase) 607809 A cluster: cen-STMY2-CLG-STMY1-ter Alpha-methylacetoacetic aciduria, 203750 (3)
11.806 1 4 18 11q23.1 BCO2, BCDO2 P Beta-carotene oxygenase 2 611740 R, REc
11.807 8 6 13 11q23.1 CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2 C Crystallin, alpha B 123590 REa, A, Ch Myopathy, myofibrillar, 2, 608810 (3); Cataract 16, multiple types, 613763 (3); Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3); Cardiomyopathy, dilated, 1II, 615184 (3)
11.808 4 15 09 11q23.1 PTS P 6-pyruvoyltetrahydropterin synthase 612719 A Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)
11.809 5 19 16 11q23.1 ALG9, DIBD1, CDG1L, GIKANIS C Alg9, yeast, homolog of 606941 REc, Ch Congenital disorder of glycosylation, type Il, 608776 (3); Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
11.810 12 20 05 11q23.3 AMICA1, JAML P Adhesion molecule, interacts with CXADR antigen 1 609770 REc
11.811 7 21 06 11q23.3 APOA1 C Apolipoprotein A-I 107680 REa, RE, Fd, F, D ApoA-I and apoC-III deficiency, combined (3); Hypoalphalipoproteinemia, 604091 (3); Corneal clouding, autosomal recessive (3); Amyloidosis, 3 or more types, 105200 (3) 9(Apoa1)
11.812 11 24 14 11q23.3 APOC3, HALP2 C Apolipoprotein C-III 107720 REa, RE, F 2.6kb 3' to APOA1 Apolipoprotein C-III deficiency, 614028 (3)
11.813 3 15 91 11q23.3 APOA4 C Apolipoprotein A-IV 107690 F, RE 12 kb 3' to APOA1 9(Apoa4)
11.814 11 14 05 11q23.3 APOA5 C Apolipoprotein A-V 606368 REc proximal to APOA1, APOC3, APOA4 {Hypertriglyceridemia, susceptibility to}, 145750 (3); Hyperchylomicronemia, late-onset, 144650 (3)
11.815 5 18 05 11q23 BMND5 P Bone mineral density QTL 5 609354 Fd between D11S901 and D11S925 [Bone mineral density QTL 5] (2)
11.816 2 27 01 11q23.1 BTG4, PC3B P B-cell translocation gene 4 605673 R
11.817 2 5 14 11q23.3 CD3D, T3D, IMD19 C CD3D antigen, delta polypeptide (TiT3 complex) 186790 REa, A, RE 3 CD3 genes in 50kb Immunodeficiency 19, 615617 (3) 9(T3d)
11.818 2 10 14 11q23.3 CD3E, IMD18 P CD3E antigen, epsilon polypeptide (TiT3 complex) 186830 REa, A, RE Immunodeficiency 18, 615615 (3); Immunodeficiency 18, SCID variant, 615615 (3) 9(T3e)
11.819 2 2 14 11q23.3 CD3G, IMD17 C CD3G antigen, gamma polypeptide (TiT3 complex) 186740 RE, REa, A Immunodeficiency 17, CD3 gamma deficient, 615607 (3) 9(T3g)
11.820 3 23 14 11q23.1 COLCA1 P Colorectal cancer-associated gene 1 615693 REc
11.821 3 23 14 11q23.1 COLCA2 P Colorectal cancer-associated gene 2 615694 REc opposite strand from COLCA1
11.822 8 20 08 11q23 CRCS7 P Colorectal cancer, susceptibility to, 7 612232 Fd associated with rs3802842 {Colorectal cancer, susceptibility to, 7} (2)
11.823 2 11 08 11q23.3 DSCAML1, KIAA1132 C Down syndrome cell adhesion molecule-like 1 611782 R, A, H 9(Dscaml1)
11.824 8 3 12 11q24.2 EI24, PIG8, EPG4 P Etoposide-induced 1.4 mRNA 605170 A 9(Ei24)
11.825 11 1 00 11q23.3 FXYD2, ATP1G1, HOMG2 C FXYD domain-containing ion transport regulator 2 (sodium-potassium-ATPase, gamma polypeptide) 601814 REc, Fd Hypomagnesemia 2, renal, 154020 (3)
11.826 11 21 00 11q23 GTS L Gilles de la Tourette syndrome 137580 Fd several loci suspected (e.g., 17q25) Tourette syndrome (2)
11.827 3 7 13 11q13.4 INPPL1, OPSMD P Inositol polyphosphate phosphatase-like 1 600829 Psh Opsismodysplasia, 258480 (3)
11.828 7 20 06 11q23 JBS C Jacobsen syndrome 147791 Ch contiguous gene deletion syndrome Jacobsen syndrome (4)
11.829 3 14 14 11q23.3 KMT2A, MLL, HRX, HTRX1, WDSTS C Lysine (K)-specific methyltransferase 2E 159555 Ch, RE fuses with ENL, AF4, AF9, GMPS Wiedemann-Steiner syndrome, 605130 (3); Leukemia, myeloid/lymphoid or mixed-lineage (2) 9(All1)
11.830 5 4 12 11q23.3 MFRP, MCOP5, NNO2 P Membrane-type frizzled-related protein 606227 REc Microphthalmia, isolated 5, 611040 (3); Nanophthalmos 2, 609549 (3)
11.831 3 31 03 11q22.2 MMP3, STMY1, CHDS6 C Matrix metalloproteinase 3 (stromelysin 1, progelatinase) 185250 REa, A {Coronary heart disease, susceptibility to, 6}, 614466 (3)
11.832 6 7 10 11q23 NAFLD2 P Fatty liver disease, nonalcoholic, susceptibility to, 2 613387 Fd associated with rs2854116, rs2854117 {Fatty liver disease, nonalcoholic, susceptibility to, 2} (2)
11.833 10 2 98 11q23.3 PAFAH1B2 C Platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 602508 R, REc, A
11.834 1 5 07 11q23.3 PDZD3, IKEPP P PDZ domain-containing 3 607146 REc
11.835 1 31 01 11q12.3 RARRES3, TIG3 P Retinoic acid receptor responder 3 605092 REc
11.836 8 22 07 11q22.3 RDX, DFNB24 C Radixin 179410 REa, Psh, A Deafness, autosomal recessive 24, 611022 (3)
11.837 7 20 01 11q23.3 RNF26 P RING finger protein-26 606130 REc
11.838 9 9 13 11q23.3 SCN2B, ATFB14 C Sodium channel, voltage-gated, type II, beta polypeptide 601327 H, A, REc, R Atrial fibrillation, familial, 14, 615378 (3) 9(Scn2b)
11.839 7 30 14 11q23.3 SCN4B, LQT10, ATFB17 P Sodium channel, voltage-gated, type IV, beta subunit 608256 REc Long QT syndrome-10, 611819 (3); Atrial fibrillation, familial, 17, 611819 (3)
11.840 7 31 15 11q23.1 SDHD, PGL1, CWS3 C Succinate dehydrogenase complex, subunit D, integral membrane protein 602690 A Paragangliomas 1, with or without deafness, 168000 (3); Pheochromocytoma, 171300 (3); Carcinoid tumors, intestinal, 114900 (3); Merkel cell carcinoma, somatic (3); Paraganglioma and gastric stromal sarcoma, 606864 (3); Cowden syndrome 3, 615106 (3); Mitochondrial complex II deficiency, 252011 (3)
11.841 5 19 09 11q23.3 SLC37A4, G6PT1 C Solute carrier family 37 (glucose-6-phosphate transporter), member 4 602671 Fd, Psh, R Glycogen storage disease Ib, 232220 (3); Glycogen storage disease Ic, 232240 (3)
11.842 6 20 94 11q23 TCPT L Thrombocytopenia, Paris-Trousseau type (deletion 11q23 syndrome) 188025 Ch contiguous gene deletion of 11q23 ?Thrombocytopenia, Paris-Trousseau type (4)
11.843 6 9 06 11q23.3 TMPRSS13, MSPL, MSPS P Transmembrane protein, serine 13 610050 R, REc
11.844 1 24 18 11q23.3 TREH, TREHD P Trehalase 275360 H, REc Trehalase deficiency, 612119 (3) 9(Treh)
11.845 12 31 99 11q23 TSG11 P Tumor suppressor gene on chromosome 11 603040 D {Nonsmall cell lung cancer} (2)
11.846 2 7 07 11q23.2 USP28, KIAA1515 C Ubiquitin-specific protease 28 610748 R, REc
11.847 7 20 12 11q24.2 VWA5A, LOH11CR2A, BCSC1 C von Willebrand factor A domain-containing protein 5A 602929 REc
11.848 2 23 09 11q23-q24 ADIPQTL4 P Adiponectin, serum level of, quantitative trait locus locus 4 612629 Fd between D11S925 and D11S968 {Adiponectin, serum level of, QTL4} (2)
11.849 3 29 16 11q24.2 SRPRA, SRPR, DP C Signal recognition particle receptor, alpha subunit 182180 REa, A, Psh
11.850 12 19 11 11q24.2 TIRAP, BACTS1 P TIR domain-containing adaptor protein 606252 R {Pneumococcal disease, invasive, protection against}, 610799 (3); {Bacteremia, protection against}, 614382 (3); {Malaria, protection against}, 611162 (3); {Tuberculosis, protection against}, 607948 (3)
11.851 7 8 17 11q24.2 ROBO3, RBIG1, RIG1, HGPPS1 C Roundabout, Drosophila, homolog of, 3 608630 Fd, R, REc Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
11.852 2 25 15 11q23.1 DIXDC1, CCD1, KIAA1735 P DIX domain-containing protein 1 610493 REc
11.853 1 23 09 11q23.1 DLAT, PDCE2 P Dihydrolipoamide S-acetyltransferase 608770 A Pyruvate dehydrogenase E2 deficiency, 245348 (3)
11.854 10 20 15 11q23.2 DRD2 C Dopamine receptor D2 126450 Fd, REa, Ch 11q22-q23 junction; 150kb 5' to NCAM; centromeric to APOA1; telomeric to STMY1
11.855 10 23 87 11q23.1 EBVM1 P Epstein-Barr virus modification site-1 132860 V
11.856 3 9 00 11q23.2 HTR3B P 5-hydroxytryptamine receptor 3B 604654 REc
11.857 3 23 14 11q23.1 MIR34B P Micro RNA 34B 611374 REc
11.858 4 2 16 11q23.1 MIR34C P Micro RNA 34C 611375 REc
11.859 8 20 98 11q23.2 NCAM1, MSK39 C Neural cell adhesion molecule 1 116930 A, Fd defective in "staggerer" in mice 9(Ncam)
11.860 10 4 05 11q23.2 NNMT C Nicotinamide N-methyltransferase 600008 A Homocysteine plasma level (2)
11.861 4 23 96 11q23.1 POU2AF1, OBF1 P POU domain, class 2, associating factor 1 601206 REa, A
11.862 8 21 12 11q23.1 SIK2, KIAA0781 P Salt-inducible kinase 2 608973 R, REc
11.863 12 4 08 11q23.2 ZBTB16, ZNF145, PLZF C Zinc finger- and BTB domain-containing protein 16 (promyelocytic leukemia zinc finger) 176797 Ch, A 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) 9(lu)
11.864 12 9 95 11q23.2 HTR3 P 5-hydroxytryptamine (serotonin) receptor-3 182139 REa, A
11.865 12 18 08 11q23.2 RBM7 P RNA-binding motif protein 7 612413 REc
11.866 9 28 05 11q23.2 REXO2, RFN P RNA exonuclease 2, S. cerevisiae, homolog of 607149 REc
11.867 3 23 93 11q24.3 ZNF123 P Zinc finger protein-123 (HZF-1) 194630 A
11.868 3 23 93 11q23.1-q23.2 ZNF125 P Zinc finger protein-125 (HZF-3) 194632 A
11.869 11 15 06 11q23.2 ANKK1 C Ankyrin repeat and kinase domain containing 1 608774 REc, REn Dopamine receptor D2, reduced brain density of (3)
11.870 5 14 09 11q23.1 C11orf34, PLET1 P Chromosome 11 open reading frame 34 611904 REc, H 9(Plet1)
11.871 6 28 17 11q23.3 CADM1, IGSF4, TSLC1 P Cell adhesion molecule 1 605686 REc
11.872 5 28 99 11q23.3 TAGLN, SMCC, SM22 P Transgelin 600818 Psh, R 9(Tagln)
11.873 1 30 07 11q23.2 TTC12, TPARM P Tetratricopeptide repeat domain 12 610732 REc
11.874 2 2 16 11q23.2 ZW10 P Zeste-white 10, Drosophila, homolog of 603954 R
11.875 3 2 98 11q23.3 H2AX P H2AX histone 601772 A
11.876 7 26 16 11q24.1 SORL1, LR11, SORLA C Sortilin-related receptor, L(DLR class) A repeats-containing 602005 A
11.877 5 22 03 11q23.3 ABCG4, WHITE2 P ATP-binding cassette, subfamily G, member 4 607784 REc, H 9(Abcg4)
11.878 10 25 16 11q23.3 ARCN1, SRMMD P Archain 1 600820 Ch 60kb telomeric to MLL Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3)
11.879 6 25 15 11q23.3 ARHGEF12, LARG, KIAA0382 P Rho guanine nucleotide exchange factor 12, leukemia-associated 604763 A, R fused with MLL in AML
11.880 2 20 01 11q23.3 BACE1, BACE C Beta-site amyloid beta A4 precursor protein-cleaving enzyme (secretase, beta; memapsin 2) 604252 REc, R
11.881 10 3 11 11q23.3 BACE1AS P BACE1 antisense RNA 614263 REc
11.882 11 2 04 11q23.3 BCL9L P B-cell CLL/lymphoma 9-like 609004 REc
11.883 5 31 05 11q23.3 C1QTNF5, CTRP5, LORD C C1q- and tumor necrosis factor-related protein 5 608752 REn, REc Retinal degeneration, late-onset, autosomal dominant, 605670 (3)
11.884 5 19 16 11q23.3 CBL, CBL2, NSLL C Cas-Br-M ecotropic retroviral transforming sequence (Oncogene CBL2) 165360 REa, Ch mutation identified in 1 JMML family Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3); ?Juvenile myelomonocytic leukemia, 607785 (3) 9(Cbl2)
11.885 8 2 17 11q23.3 C2CD2L, TMEM24 P C2 calcium-dependent domain-containing protein 2-like 617582 REc
11.886 10 4 12 11q23.3 CEP164, KIAA1052 P Centrosomal protein, 164kD 614848 R, REc Nephronophthisis 15, 614845 (3)
11.887 9 9 08 11q23.3 CXCR5, BLR1 P Chemokine, CXC motif, receptor 5 601613 REc
11.888 3 4 96 11q23.3 DDX6, HLR2 P DEAD/H box-6 (RNA helicase, 54kD) 600326 Ch, REn 9(Ddx6)
11.889 4 30 15 11q23.3 DPAGT1, DPAGT2, DGPT, CDG1J, CMSTA2, CMS13 C Dolichyl-phosphate N-acetylglucosamine phosphotransferase 191350 R, REa, A Congenital disorder of glycosylation, type Ij, 608093 (3); Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3) 17(Dpagt2)
11.890 1 13 93 11q24.3 ETS1 C Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1 164720 REa, A, Ch shown by HSR; 19cM distal to THY1; Ewing sarcoma breakpoint region-2 splices to EWSR1 9(Ets1, Fli1)
11.891 4 29 14 11q23.3 FOXR1, FOXN5 P Forkhead box R1 615755 REc
11.892 7 18 12 11q23.3 HDLCQ14, HYLAP P High density lipoprotein cholesterol level quantitative trait locus 14 605201 Fd High density lipoprotein cholesterol level QTL14 (2)
11.893 1 13 06 11q23.3 HMBS, PBGD, UPS C Hydroxymethylbilane synthase 609806 S, D, Fd, REn Porphyria, acute intermittent, 176000 (3); Porphyria, acute intermittent, nonerythroid variant, 176000 (3) 9(Ups)
11.894 1 12 11 11q23.3 IL10RA, IL10R, IBD28 C Interleukin-10 receptor, alpha 146933 REa, A Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
11.895 5 24 13 11q23.3 LRRC35, EL P Leucine-rich repeat-containing protein 35 610451 REc, R
11.896 6 18 12 11q23.3 MCAM, MUC18, CD146 P Melanoma adhesion molecule 155735 R, REc
11.897 1 2 08 11q23.3 MPZL3 P Myelin protein zero-like 3 611707 REc 9(Mpzl3)
11.898 5 23 16 11q23.3 NECTIN1, PVRL1, HVEC, PVRR1, PRR1, ED4, OFC7, CLPED1 C Nectin 1 600644 A Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3); Orofacial cleft 7, 225060 (3)
11.899 4 23 08 11q23.3 NLRX1, NOD9, CLR11.3 P NLR family member X1 611947 REc
11.900 8 3 12 11q23.3 PCSK7, PC8, PC7, LPC P Proprotein convertase, subtilisin/kexin-type, 7 604872 REc
11.901 7 16 09 11q23.3 PHLDB1, LL5A, KIAA0638 C Pleckstrin homology-like domain, family B, member 1 612834 R, REc
11.902 12 4 02 11q23.3 POU2F3, OCT11 P POU domain, class 2, transcription factor 3 607394 A 9(Oct11)
11.903 3 18 94 11q23.3 RPS25 P Ribosomal protein S25 180465 A
11.904 11 1 02 11q23.3-q24.1 SC5DL, ERG3 C Sterol C5-desaturase-like 602286 A Lathosterolosis, 607330 (3)
11.905 8 1 14 11q24.1 SCN3B, SCNB3, BRGDA7, ATFB16 P Sodium channel, voltage-gated, type III, beta subunit 608214 R Brugada syndrome 7, 613120 (3); Atrial fibrillation, familial, 16, 613120 (3)
11.906 8 29 17 11q23.3 SIDT2 C SID1 transmembrane family, member 2 617551 REc 9(Sidt2)
11.907 8 21 12 11q23.3 SIK3, KIAA0999 C Salt-inducible kinase 3 614776 REc, R
11.908 1 7 14 11q24.2 STT3A, ITM1, TMC C STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 601134 REa, H, A, REc mutation identified in 1 family ?Congenital disorder of glycosylation, type Iw, 615596 (3) 9(Itm1)
11.909 7 4 95 11q23.3 THY1 C Thy-1 T-cell antigen 188230 REa, H, A, Fd, REn 9(Thy1)
11.910 4 26 11 11q23.3 TMEM25 P Transmembrane protein 25 613934 REc 9(Tmem25)
11.911 12 17 01 11q23.3 TMPRSS4 P Transmembrane protease, serine 4 606565 R
11.912 3 3 03 11q23.2 TMPRSS5 P Transmembrane protease, serine 5 606751 REc
11.913 5 21 07 11q23.3 TRAPPC4 P Trafficking protein particle complex, subunit 4 (synbindin) 610971 R, REc
11.914 9 27 17 11q23.3 TRIM29, ATDC C Tripartite motif-containing protein 29 610658 REc, R
11.915 3 17 08 11q23.3 UPK2, UP2, UPII P Uroplakin 2 611558 REc
11.916 1 12 16 11q23.3 VPS11, HLD12 P Vacuolar protein sorting 11, yeast, homolog of 608549 REc Leukodystrophy, hypomyelinating, 12, 616683 (3)
11.917 6 25 99 11q24.1 ZNF202 P Zinc finger protein-202 603430 D
11.918 12 21 15 11q23.3 ZPR1, ZNF259 P ZPR1 zinc finger protein 603901 REc
11.919 7 12 02 11q23.3-q24 AAT1, FAA1 P Aortic aneurysm, familial thoracic 1 607086 Fd Aortic aneurysm, familial thoracic 1 (2)
11.920 10 4 95 11q24.1 HSPA8, HSP73 P Heat-shock 70kD protein-8 (HSP73) 600816 REa, A
11.921 10 24 00 11q24.3 APLP2 C Amyloid beta (A4) precursor-like protein-2 104776 REa, A 9(Aplp2)
11.922 5 5 17 11q24.3 FLI1, BDPLT21 C Friend leukemia virus integration 1 193067 REa, Ch, A fused with EWS in Ewing sarcoma Bleeding disorder, platelet-type, 21, 617443 (3)
11.923 4 3 03 11q24.2 GRTH P Gonadotropin-regulated testicular RNA helicase 607663 A, H 9(Grth)
11.924 5 23 11 11q24.2 HEPACAM, MLC2A, MLC2B P Hepatocyte cell adhesion molecule 611642 REc Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3); Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)
11.925 8 23 04 11q24.3 KCNJ1, ROMK1 C Potassium inwardly-rectifying channel, subfamily J, member 1 600359 A Bartter syndrome, type 2, 241200 (3)
11.926 6 11 11 11q24.3 KCNJ5, GIRK4, KATP1, LQT13 P Potassium inwardly-rectifying channel, subfamily J, member 5 600734 Psh, R, REc Long QT syndrome 13, 613485 (3); Hyperaldosteronism, familial, type III, 613677 (3) 9(Girk4)
11.927 4 21 01 11q24 MGR9 P Migraine with aura, susceptibility to, 9 609670 Fd max lod at GATA64D03 {Migraine with aura, susceptibility to, 9} (2)
11.928 1 2 08 11q23.3 MPZL2, EVA1, EVA P Myelin protein zero-like 2 604873 REc 9(Eva)
11.929 10 7 05 11q24 NEDE P Nephropathy, progressive, with deafness 609469 Fd max lod at D11S4464 Nephropathy, progressive, with deafness (2)
11.930 6 19 98 11q24.2 NRGN P Neurogranin 602350 REc 9(Nrgn)
11.931 4 18 02 11q24.2 PATE P Prostate- and testis-expressed gene 606861 REc
11.932 1 26 12 11q24.2 SIAE, AIS6 P Sialic acid acetylesterase 610079 R {Autoimmune disease, susceptibility to, 6}, 613551 (3)
11.933 6 22 14 11q24.3 TP53AIP1, P53AIP1 P Tumor protein p53-regulated apoptosis-inducing protein 1 605426 A
11.934 7 10 08 11q24-q25 ANIB7 P Aneurysm, intracranial berry, 7 612161 Fd between rs618176 and rs1940033 Aneurysm, intracranial berry, 7 (2)
11.935 10 21 92 11q24.3 NFRKB P Nuclear factor related to kappa B-binding protein 164013 REa, A most telomeric 11q marker
11.936 10 2 09 11q24.2 PKNOX2, PREP2 P PBX/Knotted 1 homeobox 2 613066 A
11.937 4 10 14 11q24.3 ST14, MTSP1, ARCI11 C Suppression of tumorigenicity 14 606797 A Ichthyosis, congenital, autosomal recessive 11, 602400 (3)
11.938 9 24 08 11q24.1 BLID, BRCC@ C BH3-like motif-containing cell death inducer 608853 REc, REn distal to SORL1
11.939 8 21 07 11q24.1 BSX1 P Brain-specific homeobox, mouse, homolog of 611074 REc, H 9(Bsx)
11.940 7 27 17 11q24.1 C11orf63, JHY P Chromosome 11 open reading frame 63 617594 REc 9(C11orf63)
11.941 1 27 09 11q24.1 CLLS5 P Leukemia, chronic lymphocytic susceptibility to, 5 612559 Fd associated with rs735665 {Leukemia, chronic lymphocytic susceptibility to, 5} (2)
11.942 5 24 13 11q24.1 CLMP, ASAM, ACAM, CSBS P Coxsackievirus- and adenovirus receptor-like membrane protein 611693 REc Congenital short bowel syndrome, 615237 (3) 9(Clmp)
11.943 12 21 09 11q24.1 MIR100, MIRN100 P Micro RNA 100 613186 REc, REn
11.944 9 20 14 11q24.1 MIR100HG, AGD1 P MIR100-LET7A2 cluster host gene, noncoding 615965 REc
11.945 3 23 09 11q24.1 MIR125B1, MIRN125B1 P Micro RNA 125B-1 610104 REc
11.946 3 23 09 11q24.1 MIRLET7A2, LET7A2, MIRNLET7A2 P Micro RNA let7a2 612142 REc
11.947 7 14 14 11q24.3 SENCR, lncRNA9 P Smooth muscle- and endothelial cell-enriched migration/differentiation-associated long noncoding RNA 615815 REc
11.948 7 10 08 11q24.1 UBASH3B, STS1, KIAA1959, P70 P Ubiquitin-associated and SH3 domain-containing protein B 609201 R, REc
11.949 9 21 11 11q24.2 CDON, CDO, HPE11 C Cell adhesion molecule-related/downregulated by oncogenes 608707 R, REc Holoprosencephaly 11, 614226 (3)
11.950 7 13 15 11q24.2 DCPS, HINT5, DCS1, ARS P Decapping enzyme, scavenger 610534 REc Al-Raqad syndrome, 616459 (3)
11.951 10 10 11 11q24.2 ESAM P Endothelial cell adhesion molecule 614281 REc
11.952 10 13 15 11q24.2 FAM118B P Family with sequence similarity 118, member B 616587 REc
11.953 11 16 11 11q24.2 FEZ1 P Fasciculation and elongation protein zeta 1 604825 R, REc
11.954 10 25 11 11q24.2 FOXRED1 P FAD-dependent oxidoreductase domain-containing protein 1 613622 REc Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3); Mitochondrial complex I deficiency, 252010 (3)
11.955 12 18 07 11q24.2 HEPN1 P Cancer susceptibility gene HEPN1 611641 REc
11.956 1 10 07 11q24.2 HYLS1, FLJ32915 C HYLS1 gene 610693 Fd, REc Hydrolethalus syndrome, 236680 (3)
11.957 2 17 09 11q24.2 KIRREL3, NEPH2, KIAA1867, KIRRE, MRD4 P Kin of IRRE-like 3 607761 R Mental retardation, autosomal dominant 4, 612581 (3)
11.958 11 2 14 11q24.2 PANX3, PX3 P Pannexin 3 608422 R, REc
11.959 7 25 16 11q24.2 PUS3, MRT55 P Pseudouridylate synthase 3 616283 REc mutation identified in 1 MRT55 family ?Mental retardation, autosomal recessive 55, 617051 (3)
11.960 2 21 03 11q24.2 ROBO4 P Roundabout, Drosophila, homolog of, 4 607528 REc
11.961 11 12 17 11q24.2 RPUSD4 P RNA pseudouridylate synthase domain-containing protein 4 617488 REc
11.962 7 14 14 11q24.2 ST3GAL4, SIAT4C, SIAT4, CGS23, NANTA3 C ST3 beta-galactoside alpha-2,3-sialyltransferase 4 104240 S, Psh, REc
11.963 11 30 06 11q24.2 TBRG1, NIAM P Transforming growth factor-beta regulator 1 610614 R, REc
11.964 9 27 17 11q24.2 VSIG2, CTXL C V-set and immunoglobulin domains-containing protein 2 606011 R, REc
11.965 11 11 14 11q24.3 ADAMTS15 P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 15 607509 REc
11.966 12 10 12 11q24.3 ARHGAP32, RICS, GRIT, p200RHOGAP, p250GAP P Rho GTPase activating protein 32 608541 REc, R
11.967 8 30 07 11q25 ACAD8 P Acyl-CoA dehydrogenase family, member 8 604773 REc Isobutyryl-CoA dehydrogenase deficiency, 611283 (3)
11.968 1 31 01 11q24.3 ADAMTS8, METH2 P A disintegrin-like and metalloproteinase with thrombospondin type-1 motif, 8 605175 R, H 9(Adamts8)
11.969 4 17 07 11q25 B3GAT1, GLCATP, CD57, HNK1 P Beta-1,3-glucuronyltransferase 1 151290 A, S
11.970 1 29 01 11q24.3 BARX2 P BarH-like homeo box gene 2 604823 A
11.971 4 19 12 11q25 HJCD, HCLAP P Histiocytosis with joint contractures and sensorineural deafness 602782 Fd Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
11.972 2 24 11 11q25 IGSF9B, KIAA1030 P Immunoglobulin superfamily, member 9B 613773 R, REc
11.973 2 11 11 11q25 JAM3 P Junctional adhesion molecule 3 606871 REc Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)
11.974 5 24 13 11q25 NCAPD3, CAPD3, KIAA0056 P Non-SMC condensin II complex subunit D3 609276 REc, R
11.975 1 11 07 11q25 NTM, HNT P Neurotrimin 607938 REc 9(Ntm)
11.976 2 11 09 11q25 OPCML C Opioid-binding protein/cell adhesion molecule-like 600632 REa, H, REc {Ovarian cancer, somatic}, 167000 (3) 9(Obcam)
11.977 12 23 05 11q25 SPATA19 P Spermatogenesis-associated protein 19 609805 REc
11.978 2 8 11 11q25 THYN1, HSPC144, THY28 P Thymocyte nuclear protein 1 613739 R, REc
11.979 4 19 06 11q25 VPS26B P Vacuolar protein sorting 26, yeast, homolog of, B 610027 REc 9(Vps26b)
11.980 10 20 99 11q25-qter DFNB20 P Deafness, autosomal recessive 20 604060 Fd Deafness, autosomal recessive 20 (2)
11.981 4 2 01 11q13.2 ALDH3B1, ALDH7 P Aldehyde dehydrogenase 3 family, member B1 600466 R
11.982 7 9 01 Chr.11 AOCH P Acromegaloid features, overgrowth, cleft palate, and hernia 606049 Ch pericentric inversion (46,XY,inv(11)(p15.3;q23.3)) Acromegaloid features, overgrowth, cleft palate, and hernia (2)
11.983 4 2 01 11q13.2 ALDH3B2, ALDH8 P Aldehyde dehydrogenase 3 family, member B2 601917 R
11.984 7 3 88 11q12.2 CD6, TP120 P CD6 antigen 186720 S
11.985 4 28 99 11p11.2 CRY2 P Cryptochrome 2 603732 R 2(Cry2)
11.986 2 20 01 11q13.2 FBXL11, FBL11 P F-box and leucine-rich repeat protein-11 605657 R
11.987 2 21 02 11q23.3 FXYD6 P FXYD domain-containing ion transport regulator 6 606683 R
11.988 7 15 02 11q23.3 HYOU1 P Hypoxia-upregulated 1 601746 R
11.989 3 11 03 11p15.4 IPO7, RANBP7 P Importin 7 605586 R
11.990 2 28 01 11p15.4 LYVE1 P Lymphatic vessel endothelial hyaluronan receptor 1 605702 R
11.991 7 12 02 11q23.3 MIZF P MBD2-interaction zinc finger protein 607099 R
11.992 5 7 01 11q13.1 SART1, HOMS1 P Squamous cell carcinoma antigen recognized by T cells 1 605941 R
11.993 2 5 01 11q13.1 SF3B2, SF3B145, SAP145 P Splicing factor 3B, subunit 2 605591 R
11.994 1 29 01 11q13.4 SLC21A9, OATPB P Solute carrier family 21 (organic anion transporter), member 9 604988 R
11.995 2 27 03 11q12.3 SLC22A8, OAT3 P Solute carrier family 22 (organic anion transporter), member 8 607581 R
11.996 1 29 01 11p15.2 SPON1 P F-spondin, Rat, homolog of 604989 R
11.997 5 7 03 11p11.2 SYT13, KIAA1427 P Synaptotagmin 13 607716 R
11.998 3 29 01 11q23.1 TEX12 P Testis-expressed gene 12 605791 R
11.999 6 6 00 11q23.3 UBE4A, UFD2, E4 P Ubiquitination factor E4A 603753 REa
12.1 1 24 06 12p13.33 DCP1B, DCP1 P Decapping enzyme 1, S. cerevisiae, homolog of 609843 REc, R
12.2 6 13 12 12p13.33 FBXL14, FBL14 P F-box and leucine-rich repeat protein 14 609081 REc 6(Fbxl14)
12.3 4 20 17 12p13.33 ITFG2, FGGAP1 P Integrin-alpha FG-GAP repeat-containing protein 2 617421 REc
12.4 11 7 14 12p13.32 C12orf4 P Chromosome 12 open reading frame 4 616082 REc
12.5 12 18 14 12p13.33 RHNO1, RHINO, C12orf32 P Rad9-, Rad1-, and Hus1-interacting nuclear orphan 1 614085 REc
12.6 4 10 12 12p13.33 FKBP4, FKBP52 P FK506-binding protein 4 600611 REc
12.7 6 30 08 12p13.33 IQSEC3, KIAA1110 P IQ motif- and SEC7 domain-containing protein 3 612118 R, REc
12.8 4 8 13 12p13.32 DYRK4 P Dual-specificity tyrosine phosphorylation-regulated kinase 4 609181 REc
12.9 9 6 11 12p13.32 EFCAB4B, CRACR2A P EF-hand calcium-binding domain-containing protein 4B 614178 REc
12.10 2 22 92 12p13.31 LAG3 P Lymphocyte activation gene-3 153337 A
12.11 12 21 09 12p13.33-p13.32 TSPAN9, NET5 P Tetraspanin 9 613137 REc
12.12 12 1 11 12p13.31 ACSM4 P Acyl-CoA synthetase medium-chain family, member 4 614360 REc
12.13 1 4 12 12p13.33 ADIPOR2, FLJ21432 P Adiponectin receptor 2 607946 REc 6(Adipor2)
12.14 2 17 09 12p13.31 ATN1, DRPLA, HRS, NOD C Atrophin 1 607462 Fd, D, A Dentatorubro-pallidoluysian atrophy, 125370 (3) 6(Drpla)
12.15 12 1 06 12p13.31 A2ML1 P Alpha-2-macroglobulin-like 1 610627 REc
12.16 11 2 04 12p13.31 C1RL, CLSPA, C1RLP P Complement component C1r-like protein 608974 REc
12.17 11 11 14 12p13.31 C3AR1, C3AR P Complement component 3a receptor 1 605246 REc
12.18 5 23 11 12p13.31 CD4 C CD4 antigen (p55) 186940 REa, A CD = \'cluster of differentiation\' = nomenclature of leukocyte differentiation antigens OKT4 epitope deficiency, 613949 (3) 6(Ly4)
12.19 1 13 09 12p13.31 CLEC2A C C-type lectin domain family 2, member A 612087 REc
12.20 9 24 08 12p13.2 CLEC9A, DNGR1 P C-type lectin domain family 9, member A 612252 REc
12.21 2 12 14 12p13.31 CLECL1, DCAL1 P C-type lectin-like 1 607467 REc
12.22 9 22 14 12p13.31 COPS7A, CSN7 P COP9 signalosome, subunit 7A 616009 REc
12.23 1 27 04 12p13.31 DPPA3 P Developmental pluripotency-associated gene 3 608408 REc, H 6(Dppa3)
12.24 9 30 09 12p13.31 FAM90A1 P Family with sequence similarity 90, member A1 613041 REc other family members on chr. 8
12.25 2 25 15 12p13.31 IFFO1 P Intermediate filament family orphan 1 610495 REc
12.26 3 15 04 12p13.31 ING4 C Inhibitor of growth-4 608524 R, REc, D
12.27 3 23 14 12p13.31 KLRG1, MAFA, MAFAL P Killer cell lectin-like receptor, subfamily G, member 1 604874 Psh, REc 6(Klrg1)
12.28 10 25 16 12p13.31 LPCAT3, MBOAT5, NESSY P Lysophosphatidylcholine acyltransferase 3 611950 REc
12.29 3 23 09 12p13.31 MIR141, MIRN141 P Micro RNA 141 612093 REc
12.30 3 23 09 12p13.31 MIR200C, MIRN200C P Micro RNA 200C 612092 REc
12.31 6 13 12 12p13.31 NANOG P Homeobox transcription factor NANOG 607937 REc, H 6(Nanog)
12.32 3 7 14 12p13.31 NCAPD2, CNAP1, KIAA0159 P Non-SMC condensin I complex subunit D2 615638 Psh, REc
12.33 7 7 14 12p13.31 NECAP1, EIEE21 P NECAP endocytosis-associated protein 1 611623 REc mutation identified in 1 EIEE21 family ?Epileptic encephalopathy, early infantile, 21, 615833 (3)
12.34 9 23 13 12p13.31 PHC1, EDR1, HPH1, RAE28, MCPH11 P Polyhomeotic-like 1 602978 REc mutations identified in 1 family ?Microcephaly 11, primary, autosomal recessive, 615414 (3)
12.35 11 3 14 12p13.31 PIANP, PANP, LEDA1 P PILR-alpha-associated neural protein 616065 REc
12.36 1 22 08 12p13.31 PLEKHG6, MYOGEF P Pleckstrin homology domain-containing protein, family G, member 6 611743 REc
12.37 7 8 11 12p13.31 PTMS P Parathymosin 168440 REc previously assigned to 17q12-q22
12.38 2 28 08 12p13.31 RBP5, CRBP3 P Retinol-binding protein 5 611866 REc
12.39 7 1 11 12p13.31 RIMKLB, NAAGS P Ribosomal modification protein RimK-like family, member B 614054 R, REc
12.40 2 16 18 12p13.31 RNU7-1, RNU7 C RNA, U7 small nuclear, 1 617876 REc 6(Rnu7-1)
12.41 3 7 13 12p13.31 SCARNA10 P Small cajal body-specific RNA 10 615639 REc, REn in intron 4 of NCAPD2
12.42 2 25 14 12p13.31 SCARNA12 P Small Cajal body-specific RNA 12 615642 REc
12.43 12 18 07 12p13.31 SPSB2, SSB2 P SPRY domain- and SOCS box-containing 2 611658 REc
12.44 6 27 14 12p13.31 VAMP1, SYB1, SPAX1 C Vesicle-associated membrane protein-1 (synaptobrevin-1) 185880 REa, Fd Spastic ataxia 1, autosomal dominant, 108600 (3) 6(Syb1)
12.45 10 5 10 12p13.31 CLEC6A, CLEC4N P C-type lectin domain family 6, member A 613579 REc
12.46 10 23 87 12p13.31 GAPDH, GAPD C Glyceraldehyde-3-phosphate dehydrogenase 138400 S, D, R pseudogene on Xp21-q11 6(Gapd)
12.47 9 2 08 12p13.33 B4GALNT3 P Beta-1,4-N-acetylgalactosaminyltransferase 3 612220 REc
12.48 3 5 08 12p13.33 CACNA1C, CACNL1A1, CCHL1A1, TS C Calcium channel, voltage-dependent, L type, alpha 1C subunit 114205 Psh, Fd, REa, A Timothy syndrome, 601005 (3); Brugada syndrome 3, 611875 (3)
12.49 10 11 06 12p13.33 CACNA2D4, RCD4 C Calcium channel, voltage-dependent, alpha-2/delta subunit 4 608171 REc Retinal cone dystrophy 4, 610478 (3)
12.50 1 23 01 12p13.31 CD163 C CD163 antigen (hemoglobin scavenger receptor) 605545 A, REa, R
12.51 9 30 09 12p13.31 CD164L1, CD163B, M160 P CD164 antigen-like 1 606079 A, R
12.52 5 20 05 12p13.32 FGF23, ADHR, HPDR2, PHPTC C Fibroblast growth factor 23 605380 Fd, REc Hypophosphatemic rickets, autosomal dominant, 193100 (3); Osteomalacia, tumor-induced (1); Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3) 6(Fgf23)
12.53 1 27 04 12p13.32 GALNT8 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 606250 REc
12.54 1 2 03 12p13.1 GPRC5D P G protein-coupled receptor, family C, group 5, member D 607437 REc
12.55 10 30 08 12p13.3 MAFD9 P Major affective disorder 9 612372 Fd associated with rs1006737 {Major affective disorder-9, susceptibility to} (2)
12.56 12 23 15 12p13.32 PARP11, ARTD11 P Poly(ADP-ribose) polymerase family, member 11 616706 REc
12.57 12 23 15 12p13.31 PEX5, PXR1, PTS1R, PBD2A, PBD2B, RCDP5 C Peroxisome biogenesis factor 5 600414 REa, A, R Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3); Peroxisome biogenesis disorder 2B, 202370 (3); Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)
12.58 4 6 15 12p13.32 PRMT8, HRMT1L3, HRMT1L4 C Protein arginine methyltransferase 8 610086 REc, H 6(Prmt8)
12.59 11 28 94 12p13.31 SLC2A3, GLUT3 P Solute carrier family 2 (facilitated glucose transporter), member 3 138170 A pseudogene SLC2A3P on 5q34
12.60 8 20 07 12p13.31 SLC2A14, GLUT14 P Solute carrier family 2 (facilitated glucose transporter), member 14 611039 REc
12.61 3 14 13 12p13.33 SLC6A13, GAT2, GAT3 P Solute carrier family 6 (neurotransmitter transporter, GABA), member 13 615097 REc
12.62 7 2 02 12p13.31 TAPBPR P TAP-binding protein-related protein 607081 REc
12.63 2 20 07 12p13.32 TIGAR, C12orf5 P TP53-induced glycolysis and apoptosis regulator 610775 REc
12.64 10 4 10 12p13.31 VWF, F8VWF C Coagulation factor VIII VWF (von Willebrand factor) 613160 A, REa, REb, Fd pseudogene on chr. 22 von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3); von Willebrand disease, type 1, 193400 (3); von Willibrand disease, type 3, 277480 (3) 6(Vwf)
12.65 11 4 04 12p13.33 WNT5B C Wingless-type MMTV integration site family, member 5B 606361 REc
12.66 10 15 98 12p13.33 TEAD4, TCF13L1, RTEF1 P TEA domain family, member 4 601714 A 6(Tcf13l1)
12.67 7 1 11 12p13.31 A2M , A2MD C Alpha-2-macroglobulin 103950 REa, A cluster of genes Alpha-2-macroglobulin deficiency, 614036 (1); {Alzheimer disease, susceptibility to}, 104300 (3) 6(A2m)
12.68 3 5 08 12p13.31 MRPL51, MRP64 P Mitochondrial ribosomal protein L51 611855 R, REc
12.69 12 28 15 12p13.2 LRP6, ADCAD2, STHAG7 C Low density lipoprotein receptor-related protein 6 603507 A, R {Coronary artery disease, autosomal dominant, 2}, 610947 (3); Tooth agenesis, selective, 7, 616724 (3) 6(Lrp6)
12.70 12 24 08 12p13.1 APOLD1, VERGE P Apolipoprotein L domain-containing 1 612456 REc
12.71 10 23 15 12p13.2 BORCS5, LOH12CR1, MYRLYSIN P BLOC1-related complex, subunit 5 616598 REc
12.72 7 13 17 12p13.2 CLEC12B P C-type lectin domain family 12, member B 617573 REc 6(Clec12b)
12.73 3 27 90 12p13.2 PRB1 P Proline-rich protein BstNI, subfamily-1 180989 F, RE
12.74 3 27 90 12p13.2 PRB2 C Proline-rich protein BstNI, subfamily-2 (parotid size variant) 168810 F, RE Ps allele
12.75 3 27 90 12p13.2 PRB3 C Proline-rich protein BstNI, subfamily-3 (parotid salivary glycoprotein) 168840 LD, F, RE G1 allele
12.76 3 27 90 12p13.2 PRB4 C Proline-rich protein BstNI, subfamily-4 180990 F, RE Po, CON1, CON2 alleles
12.77 4 10 90 12p13.2 PRH1 C Proline-rich protein HaeIII, subfamily-1 168730 F, LD, RE Pa, Db, PIF alleles
12.78 3 27 90 12p13.2 PRH2 C Proline-rich protein HaeIII, subfamily-2 168790 F, LD, RE Pr allele
12.79 1 28 88 12p13.2 PCS P Parotid proline-rich salivary protein Pc 168710 F linked to PRB2
12.80 8 27 15 12p13.2 STYK1, NOK P Serine/threonine/tyrosine kinase 1 611433 REc
12.81 6 11 11 12p13.2 TAS2R20, T2R56 C Taste receptor, type 2, member 20 613962 Psh, REc
12.82 6 27 11 12p13.2 TAS2R30, T2R30, T2R47 P Taste receptor, type 2, member 30 613963 REc previously assigned to chr.1
12.83 6 26 11 12p13.2 TAS2R45, T2R45 P Taste receptor, type 2, member 45 613967 REc
12.84 3 23 09 12p13.2 TAS2R43, T2R52 P Taste receptor, type 2, member 43 612668 REc
12.85 1 24 12 12p13.2 TAS2R31, TAS2R44, T2R53 P Taste receptor, type 2, member 31 612669 REc
12.86 9 15 09 12p13.2 TAS2R46, T2R46, T2R54 P Taste receptor, type 2, member 46 612774 REc
12.87 11 4 08 12p13.2 TAS2R50, T2R50, TAS2R51, T2R51 P Taste receptor, type 2, member 50 609627 Psh, REc
12.88 9 7 12 12p13.31 TNFRSF1A, TNFR1, TNFAR, FPF, MS5 C Tumor necrosis factor receptor superfamily, member 1A 191190 REa, A, Psh Periodic fever, familial, 142680 (3); {Multiple sclerosis, susceptibility to, 5}, 614810 (3) 6(Tnfr2)
12.89 11 12 07 12p13.32 RAD51AP1, PIR51 P Rad51-associated protein 1 603070 A 6(Pir51)
12.90 2 15 02 12p13.31 CLEC4C, CLECSF11, DLEC, BDCA2 P C-type lectin domain family 4, member C 606677 REc
12.91 9 8 11 12p13.2 CLEC7A, CLECSF12, DECTIN1, CANDF4 C C-type lectin domain family 7, member A 606264 A, REc in natural killer gene complex Candidiasis, familial, 4, autosomal recessive, 613108 (3); {Aspergillosis, susceptibility to}, 614079 (3)
12.92 1 13 99 12p13.1 GPR19 C G protein-coupled receptor-19 602927 A, REn
12.93 1 13 99 12p13.2 KLRC1, NKG2, NKG2A C Killer cell lectin-like receptor, subfamily C, member 1 161555 REa, A family of at least 3 genes on 12 6(Klrc1)
12.94 1 13 99 12p13.2 KLRC2, NKG2C P Killer cell lectin-like receptor, subfamily C, member 2 602891 REc
12.95 1 13 99 12p13.2 KLRC3, NKG2E P Killer cell lectin-like receptor, subfamily C, member 3 602892 REc
12.96 9 3 98 12p13.2 KLRC4, NKG2F, D12S2489E P Killer cell lectin-like receptor, subfamily C, member 4 602893 REc
12.97 1 13 99 12p13.2 KLRD1, CD94 P Killer cell lectin-like receptor, subfamily D, member 1 602894 REc
12.98 1 29 01 12p13.31 KLRF1 P Killer cell lectin-like receptor, subfamily F, member 1 605029 REc
12.99 2 26 08 12p13.2 KLRK1, NKG2D P Kill cell lectin-like receptor, subfamily K, member 1 611817 REc
12.100 7 18 06 12p13.2-p11.23 DFNB62 P Deafness, autosomal recessive 62 610143 Fd between D12S358 and D12S1042 Deafness, autosomal recessive 62 (2)
12.101 1 6 97 12p13.2-q24.1 IBD2 C Inflammatory bowel disease 2 601458 Fd, LD mainly ulcerative colitis {Inflammatory bowel disease 2} (2)
12.102 1 7 95 12p13.31 APOBEC1, BEDP C Apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 600130 A
12.103 11 22 10 12p13.1 ATF7IP, AM, MCAF, MCAF1 P Activating transcription factor 7-interacting protein 613644 REc
12.104 1 22 99 12p13.2 CSDA, DBPA P Cold-shock domain protein A 603437 A
12.105 10 7 13 12p13.1 DDX47 P DEAD box polypeptide 47 615428 REc
12.106 1 30 18 12p13.1 FAM234B, KIAA1467 P Family with sequence similarity 234, member B 617838 REc
12.107 1 20 11 12p13.31 GDF3, KFS3, MCOPCB6, MCOP7 P Growth differentiation factor 3 606522 R Klippel-Feil syndrome 3, autosomal dominant, 613702 (3); Microphthalmia with coloboma 6, 613703 (3); Microphthalmia, isolated 7, 613704 (3)
12.108 10 12 14 12p13.1 GNAI2P1, GNAI2L, GNAI2A C Guanine nucleotide-binding protein (G protein), alpha-inhibiting, polypeptide 2 pseudogene 1 139180 REa, A
12.109 2 8 13 12p12.3 HIST4H4 P Histone gene cluster 4, H4 histone 615069 REc
12.110 1 8 15 12p13.31 MFAP5, MAGP2, AAT9 P Microfibril-associated protein 5 601103 A Aortic aneurysm, familial thoracic 9, 616166 (3)
12.111 11 25 14 12p12.3 MGP C Matrix Gla protein 154870 REa, R, Fd, LD Keutel syndrome, 245150 (3) 6(Mglap)
12.112 4 17 12 12p13.1 GPRC5A, RAI3, RAIG1 P G protein-coupled receptor, family C, group 5, member A 604138 R, REc
12.113 9 19 00 12p13.31 AICDA, AID, HIGM2 C Activation-induced cytidine deaminase 605257 A, Fd Immunodeficiency with hyper-IgM, type 2, 605258 (3)
12.114 11 24 08 12p13.31 ANO2, TMEM16B, C12orf3 P Anoctamin 2 610109 REc
12.115 10 29 16 12p13.31 C1R, EDSPD1 C Complement component-1, r subcomponent 613785 REa, Fd, RE, A Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3)
12.116 10 29 16 12p13.31 C1S, EDSPD2 C Complement component-1, s subcomponent 120580 REa, Fd, RE, A C1s deficiency, 613783 (3); Ehlers-Danlos syndrome, periodontal type, 2, 617174 (3)
12.117 4 23 13 12p13.31 C12orf57, C10, TEMTYS C Chromosome 12 open reading frame 57 615140 REc, H Temtamy syndrome, 218340 (3) 6(C12orf57)
12.118 8 22 14 12p13.32 CCND2, MPPH3 C Cyclin D2 123833 REa, A Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)
12.119 6 5 89 12p13.31 CD9, MIC3 C CD9 antigen (p24) 143030 S, REa, A
12.120 5 22 07 12p13.1 CDKN1B, KIP1, CDKN4, MEN4 C Cyclin-dependent kinase inhibitor 1B (p27, Kip1) 600778 Psh, A, REc, REn Multiple endocrine neoplasia, type IV, 610755 (3) 7(Cdkn1b)
12.121 10 18 16 12p13.31 CHD4, SIHIWES P Chromodomain helicase DNA-binding protein-4 603277 A Sifrim-Hitz-Weiss syndrome, 617159 (3)
12.122 3 26 02 12p13.2 CLEC1A, CLEC1 P C-type lectin domain family 1, member A 606782 REa
12.123 3 26 02 12p13.3-p13.2 CLEC2B, CLEC2 P C-type lectin domain family 1, member B 606783 REa
12.124 3 23 06 12p13.31 CLEC4D, CLECSF8, CLEC6 P C-type lectin domain family 4, member D 609964 REc
12.125 3 24 06 12p13.31 CLEC2D, LLT1 P C-type lectin domain family 2, member D 605659 REc
12.126 3 23 06 12p13.31 CLEC4E, MINCLE P C-type lectin domain family 4, member E 609962 REc 6(Clec4e)
12.127 1 31 01 12p13.31 CLEC4A, CLECSF6, DCIR, DDB27 P C-type lectin domain family 4, member A 605306 REa, R
12.128 6 27 08 12p13.31 CLEC12A, MICL P C-type lectin domain family 12, member A 612088 REc, H 6(Clec12a)
12.129 3 23 13 12p13.31 CLSTN3, KIAA0726 C Calsyntenin 3 611324 R, REc
12.130 6 25 99 12p13.1 CREBL2 P Cyclic AMP response element-binding protein-like 2 603476 D, A
12.131 5 13 98 12p13.31 DDX12, CHLR2 P DEAD/H box-12 601151 Psh, A
12.132 8 24 09 12p13.31 EMG1, NEP1, C2F, BWCNS P Essential for mitotic growth 1, S. cerevisiae, homolog of 611531 REc, Fd Bowen-Conradi syndrome, 211180 (3)
12.133 8 11 91 12p13.31 ENO2 C Enolase-2, gamma, neuronal 131360 S, D, A, REa
12.134 2 13 15 12p13.2 ETV6, TEL, THC5 C ETS variant gene-6 (TEL oncogene) 600618 RE, Fd, D fused to PDGFRB or AML1 in leukemia Leukemia, acute myeloid, somatic, 601626 (3); Thrombocytopenia 5, 616216 (3)
12.135 3 18 94 12p13.32 FGF6 C Fibroblast growth factor-6 134921 A, Ch, Psh
12.136 11 9 98 12p13.33 FOXM1, FKHL16, HFH11 C Forkhead box M1 602341 Psh, R, A
12.137 7 11 16 12p13.31 GNB3, CSNB1H C Guanine nucleotide-binding protein, beta polypeptide-3 139130 REa, A {Hypertension, essential, susceptibility to}, 145500 (3); Night blindness, congenital stationary, type 1H, 617024 (3) 6(Gnb3)
12.138 2 11 96 12p13.32 KCNA1, AEMK, EA1 C Potassium voltage-gated channel, shaker-related subfamily, member 1 176260 REa, Fd, A, H close to VWF Episodic ataxia/myokymia syndrome, 160120 (3) 6(Kcna1)
12.139 9 8 08 12p13.32 KCNA5, ATFB7 C Potassium voltage-gated channel, shaker-related subfamily, member 5 176267 REa, Fd, H Atrial fibrillation, familial, 7, 612240 (3) 6(Kcna5)
12.140 3 17 94 12p13.32 KCNA6 L Potassium voltage-gated channel, shaker-related subfamily, member 6 176257 REa 6(Kcna6)
12.141 4 19 16 12p13.31 P3H3, LEPREL2 P Prolyl 3-hydroxylase 3 610342 REc
12.142 8 21 98 12p12.3 LMO3, RBTNL2, RHOM3 P LIM domain only 3 (rhombotin-like 2) 180386 A, Ch expressed mainly in brain
12.143 4 24 08 12p13.31 LPAR5, GPR92, GPR93, LPA5 C Lysophosphatidic acid receptor 5 606926 REc
12.144 8 21 98 12p13.31 LTBR, TNFCR L Lymphotoxin-beta receptor (tumor necrosis factor C receptor) 600979 H tightly linked to TNFR1 in mouse 6(Tnfcr)
12.145 12 4 95 12p13.31 M6PR C Mannose-6-phosphate receptor, cation-dependent 154540 REa, Psh, A 6(Mprd)
12.146 8 29 96 12p13.31 MLF2 P Myeloid leukemia factor-2 601401 A, REc
12.147 4 29 03 12p13.33 NINJ2 P Nerve injury-induced protein 2 607297 REc
12.148 10 15 94 12p13.31 NOL1 P Nucleolar protein 1, 120kD 164031 Psh, A
12.149 6 21 91 12p13.31 NTF3 C Neurotrophin-3 162660 A, REa 6(Ntf3)
12.150 10 25 12 12p12.3 PDE6H, RCD3, ACHM6 C Phosphodiesterase 6H, cGMP-specific, cone, gamma 601190 A Retinal cone dystrophy 3, 610024 (3); Achromatopsia 6, 610024 (3)
12.151 1 17 07 12p13.31 PHB2, REA P Prohibitin 2 610704 R, REc
12.152 12 30 14 Xp21.1 PRRG1, PRGP1 P Proline-rich gamma-carboxyglutamic acid protein 1 300935 REc
12.153 1 6 93 12p13.31 PTPN6 P Protein tyrosine phosphatase, nonreceptor-type, 6 176883 A 6(Hcph)
12.154 10 8 09 12p13.31 SCNN1A, BESC2 C Sodium channel, nonvoltage-gated 1, alpha 600228 REa, Psh, A, Fd Pseudohypoaldosteronism, type I, 264350 (3); Bronchiectasis with or without elevated sweat chloride 2, 613021 (3) 6(Scnn1)
12.155 10 2 98 12p13.33 SLC6A12 P Solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 603080 A
12.156 6 11 11 12p13.2 TAS2R19, T2R19, T2R48 P Taste receptor, type 2, member 19 613961 REc
12.157 6 26 11 12p13.2 TAS2R42, T2R42, T2R55 P Taste receptor, type 2, member 42 613966 REc
12.158 6 27 17 12p13.31 CD27, TNFRSF7, S152. LPFS2 P CD27 antigen 186711 Psh, A Lymphoproliferative syndrome 2, 615122 (3)
12.159 11 13 13 12p13.31 TPI1, TPID C Triosephosphate isomerase-1 190450 S, D, R, REa Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3) 6(Tpi1)
12.160 4 5 00 12p13.2 TRB1, T2R14 P Taste receptor, family B, member 1 604790 REc
12.161 4 5 00 12p13.2 TRB2, T2R10 P Taste receptor, family B, member 2 604791 REc
12.162 4 5 00 12p13.2 TRB3, T2R13 P Taste receptor, family B, member 3 604792 REc
12.163 4 5 00 12p13.2 TRB4, T2R7 P Taste receptor, family B, member 4 604793 REc
12.164 4 5 00 12p13.2 TRB5, T2R8 P Taste receptor, family B, member 5 604794 REc
12.165 4 5 00 12p13.2 TRB6, T2R9 P Taste receptor, family B, member 6 604795 REc
12.166 12 14 00 12p13.33 TULP3 P Tubby-like protein 3 604730 R 6(Tulp3)
12.167 2 5 99 12p13.31 USP5, ISOT P Ubiquitin-specific protease-5 (ubiquitin isopeptidase T) 601447 REn
12.168 2 27 12 12p13.33 WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2 C WNK lysine deficient protein kinase 1 605232 Fd, REc Pseudohypoaldosteronism, type IIC, 614492 (3); Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
12.169 6 8 89 12p13.31 PZP P Pregnancy zone protein 176420 REa, A
12.170 3 18 95 12p13.33 RAD52 P RAD52, yeast, homolog of 600392 Psh, A
12.171 10 24 14 12p12.3 ART4, DO, DOK1 C ADP-ribosyltransferase-4 (Dombrock blood group) 110600 A, Psh [Blood group, Dombrock], 616060 (3)
12.172 3 1 94 12p13.31 CD69 C CD69 antigen (p60, early T-cell activation antigen) 107273 REa, A
12.173 3 24 06 12p13.31 CLEC2B, CLECSF2, AICL P C-type lectin domain family 2, member B 603242 REc
12.174 11 3 99 12p13.2 KLRA1, LY49L P Killer cell lectin-like receptor, subfamily A, member 1 604274 H, REc ?functional 6(Ly49)
12.175 1 13 99 12p13.31 KLRB1, NKRP1A P Killer cell lectin-like receptor, subfamily B, member 1 602890 Psh, A, REc
12.176 11 29 11 12p13.2 OLR1, LOX1 C Low density lipoprotein, oxidized, receptor 1 602601 A, REn {Myocardial infarction, susceptibility to}, 608446 (3)
12.177 9 6 11 12p12.3 PTPRO, GLEPP1, NPHS6 P Protein tyrosine phosphatase, receptor type, O 600579 A Nephrotic syndrome, type 6, 614196 (3)
12.178 6 21 94 12q13.3 ATP5B, ATPSB C ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 102910 REa, REb
12.179 7 14 98 12p12.3 ARHGDIB, GDID4, D4 P Rho GDP dissociation inhibitor (GDI) beta 602843 A
12.180 10 20 99 12p13.1 EMP1, TMP C Epithelial membrane protein-1 602333 REa, A, R 6(Emp1)
12.181 9 2 14 12p12.3 EPS8, DFNB102 P Epidermal growth factor receptor pathway substrate-8 600206 REa, A mutation identified in 1 DFNB102 family ?Deafness, autosomal recessive 102, 615974 (3)
12.182 2 28 03 12p13.2 GABARAPL1, GEC1 P GABA-A receptor-associated protein-like protein 1 607420 R, REc
12.183 11 22 16 12p12.3 PLCZ1, SPGF17 P Phospholipase C, zeta-1 608075 REc mutation identified in 1 SPGF17 family ?Spermatogenic failure 17, 617214 (3)
12.184 7 18 14 12p11.23 STK38L, NDR2, KIAA0965 P Serine/threonine protein kinase 38-like protein 615836 R, REc 6(Stk38l)
12.185 5 18 10 12p12.3 STRAP, UNRIP, MAWD P Serine/threonine kinase receptor-associated protein 605986 R, REc previously assigned to 12q
12.186 4 25 93 12p12.1 IAPP C Islet amyloid polypeptide (diabetes-associated peptide; amylin) 147940 REa, A
12.187 4 23 13 12p12.1 GYS2 C Glycogen synthase-2, liver 138571 A, Fd Glycogen storage disease 0, liver, 240600 (3)
12.188 6 23 15 12p12.2 PDE3A, HTNB C Phosphodiesterase 3A, cGMP-inhibited 123805 REc, Fd Hypertension and brachydactyly syndrome, 112410 (3)
12.189 1 18 12 12p12.2 SLCO1B3, OATP8, OATP1B3, SLC21A8, HBLRR P Solute carrier organic anion transporter family, member 1B3 605495 REc HBLRR digenic with SLCO1B1 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
12.190 6 21 04 12p12.2-p12.1 HYT4 P Hypertension, essential, susceptibility to, 4 608742 Fd {Hypertension, essential, susceptibility to, 4}, 145500 (2)
12.191 9 4 15 12p12.1 LDHB, LDHBD C Lactate dehydrogenase B 150100 S, D, Fd [Lactate dehydrogenase-B deficiency], 614128 (3) 6(Ldh2)
12.192 7 6 12 12p12.1 ABCC9, SUR2, CMD1O, ATFB12, CANTU P ATP-binding cassette, subfamily C, member 9 (sulfonylurea receptor 2) 601439 A Cardiomyopathy, dilated, 1O, 608569 (3); Atrial fibrillation, familial, 12, 614050 (3); Hypertrichotic osteochondrodysplasia, 239850 (3)
12.193 4 19 16 12p12.1 CASC1, LAS1, PPP1R54 C Cancer susceptibility candidate 1 616906 REc, H 6(Casc1)
12.194 4 19 06 12p12.1 CMAS P Cytidine monophosphate N-acetylneuraminic acid synthetase 603316 REn
12.195 3 7 13 12p12.1 GOLT1B, GOT1B, GCT2 P Golgi transport 1B 615078 REc
12.196 6 20 13 12p12.1 KRAS, KRAS2, RASK2, NS, CFC2, RALD C Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog 190070 REa, A, Fd pseudogene KRAS1P on 6p12-p11 Lung cancer, somatic, 211980 (3); Bladder cancer, somatic, 109800 (3); Pancreatic carcinoma, somatic, 260350 (3); Gastric cancer, somatic, 137215 (3); Leukemia, acute myeloid, 601626 (3); Noonan syndrome 3, 609942 (3); Cardiofaciocutaneous syndrome 2, 615278 (3); Breast cancer, somatic, 114480 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); RAS-associated autoimmune leukoproliferative disorder, 614470 (3); Arteriovenous malformation of the brain, somatic, 108010 (3) 6(Kras2)
12.197 12 15 16 12p12.1 LMNTD1, IFLTD1, LMNARS1, PAS1C1 P Lamin tail domain-containing protein 1 617254 REc
12.198 4 29 14 12p12.1 LRMP, JAW1 P Lymphoid-restricted membrane protein 602003 REc
12.199 12 19 16 12p12.1 PYROXD1, MFM8 P Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 617220 REc Myopathy, myofibrillar, 8, 617258 (3)
12.200 9 7 12 12p12.1 RASSF8, C12orf2 P RAS association domain family, member 8 608231 REc
12.201 2 12 16 12p12.1 SOX5, LAMSHF P SRY-box 5 604975 A, H some LAMSHF patients have 12p12 deletions Lamb-Shaffer syndrome, 616803 (3) 6(Sox5)
12.202 8 24 09 12p12.1 BHLHE41, BHLHB3, DEC2, SHARP1 P Basic helix-loop-helix domain-containing protein, member E41 606200 A [Short sleeper], 612975 (3) 6(Dec2)
12.203 3 20 06 12p12.1 ETNK1, EKI1 P Ethanolamine kinase 1 609858 REc 12(Etnk1)
12.204 3 22 06 12p12.1 DADR P DAD1-related gene 609860 A
12.205 4 27 10 12p11.22 PTHLH, BDE2 P Parathyroid hormone-like hormone 168470 REa, A Humoral hypercalcemia of malignancy (1); Brachydactyly, type E2, 613382 (3) 6(Pthlh)
12.206 3 14 96 12p12.1 SIAT8 C Sialyltransferase-8 (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase) 601123 Psh, A 6(Siat8)
12.207 7 6 00 12q13.13 TARBP2 P TAR RNA-binding protein 2 605053 Psh pseudogene on 8q22-qter 15(Tarbp2)
12.208 9 15 98 12p12.1 BCAT1, BCT1 C Branched chain aminotransferase-1, cytosolic 113520 S, H ?Hyperleucinemia-isoleucinemia or hypervalinemia (1) 6(Bcat1)
12.209 8 30 01 12p13.2 BCLG P Apoptosis regulator BCLG 606126 REc
12.210 6 10 04 12p12.3 CAPZA3, CAPPA3 P Capping protein, actin, alpha-3 608722 REc 6(Capza3)
12.211 6 27 12 12p13.2 DUSP16, MKP7, KIAA1700 P Dual-specificity phosphatase 16 607175 REc
12.212 12 26 14 12p13.1 GRIN2B, NMDAR2B, MRD6, EIEE27 P Glutamate receptor, ionotropic, N-methyl D-aspartate 2B 138252 A, REa Mental retardation, autosomal dominant 6, 613970 (3); Epileptic encephalopathy, early infantile, 27, 616139 (3) 6(Nmdar2b)
12.213 5 29 12 12p12.3 GUCY2C, GUC2C, DIAR6, MECIL P Guanylate cyclase 2C (heat stable enterotoxin receptor) 601330 A Diarrhea 6, 614616 (3); Meconium ileus, 614665 (3) 6(Gucy2c)
12.214 8 25 09 12p12.3 PEPP2, KIAA1686 P Phosphatidylinositol 3-phosphate-binding PH domain protein 2 607770 R, REc
12.215 11 2 04 12p12.3 PIK3C2G P Phosphatidylinositol 3-kinase, class 2, gamma 609001 A, H 6(Pik3c2g)
12.216 3 23 09 12p12.3 RERG P Ras-like and estrogen-regulated growth inhibitor 612664 REc
12.217 7 7 14 12p12.3 SKP1P2, SKP1B P S-phase kinase-associated protein 1 pseudogene 2 (p19B) 601435 A
12.218 1 13 99 12p12.1 SLC21A3, OATP C Solute carrier family 21 (organic anion transporter), member 3 602883 Psh, A
12.219 1 18 12 12p12.1 SLCO1B1, LST1, OATP2, OATPC, OATP1B1, HBLRR P Solute carrier organic anion transporter family, member 1B1 604843 R, REn HBLRR digenic with SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
12.220 6 7 10 12p12.2 SLCO1C1, OATPF, OATP14, SLC21A14 P Solute carrier organic anion transporter family, member 1C1 613389 REc
12.221 3 14 06 12p13.31 ZNF384, CIZ, CAGH1, NMP4 P Zinc finger protein 384 609951 REc, H 6(Znf384)
12.222 5 22 14 12p12.1 RECQL, RECQL1 P RecQ helicase-like (DNA helicase, RecQ-like 1) 600537 Psh, A
12.223 11 19 13 12p11.21 CAPRIN2, C1QDC1, EEG1, KIAA1873 P Caprin family, member 2 610375 REc
12.224 12 27 16 12p11.21 DENND5B P DENN domain-containing protein 5B 617279 REc
12.225 11 8 17 12p11.21 DNM1L, DRP1, DVLP, DYMPLE, EMPF1, OPA5 P Dynamin 1-like 603850 R, REc Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3); Optic atrophy 5, 610708 (3)
12.226 4 6 18 12p11.21 ETFBKMT, METTL20, C12orf72 P Electron transfer flavoprotein beta-subunit lysine methyltransferase 615256 REc
12.227 12 30 14 12p11.21 H3F3C P H3 histone, family 3C 616134 REc, A
12.228 9 17 10 12p11.21 YARS2, TYRRS, MLASA2 P Tyrosyl-tRNA synthetase 2 610957 R, REc Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)
12.229 3 29 12 12p11.23 ARNTL2, BMAL2, CLIF P Aryl hydrocarbon receptor nuclear translocator-like protein 2 614517 A, REc
12.230 3 7 13 12p11.23 ASUN, MAT89BB, GCT1 P Asunder, spermatogenesis regulator 615079 REc
12.231 1 8 15 12p11.22 FAR2, MLSTD1 P Fatty acyl CoA reductase 2 616156 REc 12(Far2)
12.232 2 5 15 12p12.1 KCNJ8 P Potassium inwardly-rectifying channel, subfamily J, member 8 600935 A
12.233 7 22 09 12p11.23 MED21, SURB7, SRB7 P Mediator complex subunit 21 603800 REc
12.234 7 25 16 12p11.23-q13.12 AD5 P Alzheimer disease, familial, type 5 602096 Fd Alzheimer disease-5 (2)
12.235 2 24 17 12p11.22 CCDC91 P Coiled-coil domain-containing protein 91 617366 REc
12.236 9 22 08 12p11.22 ERGIC2, CDA14, PTX1 P Endoplasmic reticulum-golgi intermediate compartment protein 2 612236 Psh, REc
12.237 3 15 07 12p11.22 REP15 P Rab15 effector protein 610848 R, REc
12.238 7 18 14 12p11.22 TMTC1 P Transmembrane and tetratricopeptide repeat domains-containing protein 1 615855 REc
12.239 7 2 07 12p11.21 FGD4, FRABIN, CMT4H C FYVE, RhoGEF, and PH domain-containing protein 4 611104 R, Fd Charcot-Marie-Tooth disease, type 4H, 609311 (3)
12.240 1 26 97 12p12.1 SSPN, KRAG P Sarcospan (Kirsten-ras associated gene) 601599 A
12.241 5 28 98 12p11.21 BICD1 P Bicaudal-D, Drosophila, homolog of, 1 602204 REc second homolog on 9q
12.242 1 18 13 12p11.2-q13.1 ARCI7 P Ichthyosis, congenital, autosomal recessive 7 615022 Fd between D12S345 and D12S390 Ichthyosis, congenital, autosomal recessive 7 (2)
12.243 2 17 09 12p11.2-q14 STQTL3 P Stature quantitative trait locus 3 606257 Fd max lod at D12S398 and D12S10990 {Stature QTL 3} (2)
12.244 2 5 14 12p11.1 ALG10, KCR1 P Alg10, S. cerevisiae, homolog of 603313 REc {Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3)
12.245 6 14 10 12p11.21 DDX11, CHLR1, KRG2 P DEAD/H box-11 (CHL1-related helicase gene-1) 601150 Psh, A Warsaw breakage syndrome, 613398 (3)
12.246 4 3 15 12p11.23 ITPR2, ANHD P Inositol 1,4,5-triphosphate receptor, type 2 600144 A mutation has been identified in 1 ANHD family ?Anhidrosis, isolated, with normal sweat glands, 106190 (3)
12.247 7 9 09 12p13.33 KDM5A, JARID1A, RBP2, RBBP2 P Lysine(K)-specific demethylase 5A 180202 Psh, A
12.248 12 30 04 12p11.21 PKP2, ARVD9 C Plakophilin-2 602861 A, Psh pseudogene on 12p13 Arrhythmogenic right ventricular dysplasia 9, 609040 (3)
12.249 11 10 17 12p11.21 SINHCAF, FAM60A P SIN3-HDAC complex associated factor 615027 REc
12.250 9 9 13 12p11-q13 VUR7 P Vesicoureteral reflux 7 615390 Fd max lod at D12S1048 Vesicoureteral reflux 7 (2)
12.251 1 28 88 12p KAR L Aromatic alpha-keto acid reductase 107920 S ?same as MDH1
12.252 2 23 12 12p13.32 NDUFA9 P NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 9 603834 REc Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
12.253 5 7 03 12q21.2 OSBPL8, ORP8, KIAA1451 C Oxysterol-binding protein-like protein 8 606736 R, REc
12.254 5 4 12 12p PKS P Pallister-Killian syndrome 601803 Ch Pallister-Killian syndrome (4)
12.255 5 15 95 12q21.2 SYT1 C Synaptotagmin-1 185605 REa, H 10(Syt1)
12.256 7 8 10 12q IHPS1, IHPS P Pyloric stenosis, infantile hypertrophic 1 179010 Fd Pyloric stenosis, infantile hypertrophic 1 (2)
12.257 6 25 99 12q24.13 RPL6 P Ribosomal protein L6 603703 Psh, R
12.258 3 29 10 12q13.2 RPS26, DBA10 P Ribosomal protein S26 603701 Psh, R Diamond-Blackfan anemia 10, 613309 (3)
12.259 5 22 03 12q13.13 SMUG1 P Single-strand-selective monofunctional uracil-DNA glycosylase 1 607753 REc
12.260 1 2 08 12q12 ADAMTS20 P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 20 611681 REc
12.261 10 29 99 12q12 ABCD2, ALDR, ALDL1 P ATP-binding cassette, subfamily D, member 2 601081 A, Psh 15(Aldl1)
12.262 7 7 14 12q12 CNTN1, MYPCN P Contactin 1 600016 A mutation identified in 1 MYPCN family ?Myopathy, congenital, Compton-North, 612540 (3)
12.263 1 31 01 12p11.23 TM7SF3 P Transmembrane 7 superfamily, member 3 605181 A, R
12.264 1 25 93 12q13.13 ITGA5, FNRA, VLA5A C Integrin, alpha-5 (fibronectin receptor, alpha subunit; very late activation protein-5, alpha subunit) 135620 REa, A 15(Itga5)
12.265 6 7 95 12q13.13 KRT2, KRT2A, KRT2E P Keratin 2 600194 Fd Ichthyosis bullosa of Siemens, 146800 (3)
12.266 3 3 09 12q13.11-q13.12 CCNT1, CCNT P Cyclin T1 143055 R, REc
12.267 12 11 97 12q13.13 ACVRL1, ACVRLK1, ALK1, HHT2 C Activin A receptor, type II-like kinase 1 601284 REc Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)
12.268 1 13 99 12q13.12 ACCN2 P Cation channel, amiloride-sensitive, neuronal, 2 602866 A
12.269 9 15 11 12q12 ANO6, TMEM16F, SCTS, BDPLT7 P Anoctamin 6 608663 REc Scott syndrome, 262890 (3) 15(Tmem16f)
12.270 12 15 17 12q12 ARID2, BAF200, KIAA1557, CSS6 P AT-rich interaction domain-containing protein 2 609539 REc Coffin-Siris syndrome 6, 617808 (3)
12.271 3 29 10 12q12 GXYLT1, GLT8D3 P Glucoside xylosyltransferase 1 613321 REc
12.272 3 8 07 12q12 IRAK4, REN64, IPD1 P Interleukin 1 receptor-associated kinase 4 606883 REc IRAK4 deficiency, 607676 (3); Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3)
12.273 2 17 10 12q12 KIF21A, KIAA1708, FEOM1, CFEOM1, CFEOM3B C Kinesin family member 21A 608283 Fd, REc Fibrosis of extraocular muscles, congenital, 1, 135700 (3); Fibrosis of extraocular muscles, congenital, 3B, 135700 (3) 15(Kif21a)
12.274 4 10 15 12q12 LRRK2, PARK8 C Leucine-rich repeat kinase 2 (dardarin) 609007 Fd, REc {Parkinson disease 8}, 607060 (3)
12.275 7 31 08 12q12 MUC19 P Mucin 19, oligomeric 612170 REc 15(Muc19)
12.276 12 28 08 12q12 PDZRN4 P PDZ domain-containing ring finger protein 4 609730 REc
12.277 7 9 06 12q13.13 PFDN5, MM1 P Prefoldin 5 604899 R
12.278 3 22 07 12q12 PPHLN1 P Periphilin 1 608150 REc
12.279 12 24 08 12q12 PRICKLE1, RILP, EPM1B C Prickle-like 1 608500 REc Epilepsy, progressive myoclonic 1B, 612437 (3) 15(Prickle1)
12.280 8 20 07 12q12 SLC2A13, HMIT P Solute carrier family 2 (facilitated glucose transporter), member 13 611036 R, REc
12.281 4 19 07 12q12 TWF1, PTK9 P Twinfilin, Drosophila, homolog of, 1 610932 R, REc
12.282 8 18 14 12q12 YAF2 P YY1-associated factor 2 607534 REc
12.283 2 12 07 12q12 ZCRB1, MADP1 P Zinc finger CCHC domain- and RNA-binding motif-containing protein 1 610750 REc possible pseudogenes on chr16, X, and 6
12.284 3 31 15 12q13.12 ADCY6, LCCS8 C Adenylate cyclase-6 600294 A, REa mutation identified in 1 LCCS8 family ?Lethal congenital contracture syndrome 8, 616287 (3) 15(Adcy6)
12.285 10 1 95 12q13.2 CD63, MLA1 P CD63 antigen (melanoma 1 antigen) 155740 REa, A 10(Cd63)
12.286 2 21 12 12q13.12 GPD1, HTGTI C Glycerol-3-phosphate dehydrogenase, soluble 138420 S, R Hypertriglyceridemia, transient infantile, 614480 (3) 15(Gdc1)
12.287 5 27 05 12q13.12 PRPH P Peripherin 170710 A {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3) 15(Prph)
12.288 6 25 99 12q13.3 TIMELESS, TIM, TIM1 P Timeless, Drosophila, homolog of 603887 A, R, H 10(Tim)
12.289 5 6 13 12q13.12 WNT1, INT1, OI15, BMND16 C Wingless-type MMTV integration site family, member 1 (oncogene INT1) 164820 REa, A Osteogenesis imperfecta, type XV, 615220 (3); {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3) 15(Int1, Wnt1)
12.290 2 1 11 12q12 SCAF11, SFRS2IP, SIP1, CASP11, SRRP129 P SR-related C-terminal domain-associated factor 11 603668 REc previously assigned to 21q22.3
12.291 12 13 95 12q13.13 KRT7 P Keratin 7 148059 REa, A
12.292 12 17 07 12q13.12 TUBA1A, TUBA3, LIS3 P Tubulin, alpha-1A 602529 REc Lissencephaly 3, 611603 (3)
12.293 11 16 05 12q13.11 VDR P Vitamin D (1,25-dihydroxyvitamin D3) receptor 601769 REa, A Rickets, vitamin D-resistant, type IIA, 277440 (3); ?Osteoporosis, involutional, 166710 (1)
12.294 2 28 07 12q12-q21 RLS1 P Restless legs syndrome, susceptibility to, 1 102300 Fd between D12S1044 and D12S78 {Restless legs syndrome 1} (2)
12.295 11 1 00 12q13.13 AAAS, AAA C Aladin 605378 Fd, REc Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
12.296 4 26 01 12q13.13 ACVR1B, ACVRLK4, ALK4 C Activin A receptor, type IB 601300 REa, A Pancreatic cancer, somatic (3)
12.297 8 21 98 12q13.13 AMHR2, AMHR P Anti-Mullerian hormone receptor, type II 600956 A Persistent Mullerian duct syndrome, type II, 261550 (3) 15(Amhr)
12.298 11 16 05 12q13.12 AQP2 C Aquaporin-2 (collecting duct) 107777 A Diabetes insipidus, nephrogenic, 125800 (3)
12.299 11 5 97 12q13.12 AQP6, AQP2L C Aquaporin-6, kidney specific 601383 Psh, A
12.300 10 7 13 12q13.12 AQP5, PPKB P Aquaporin-5 600442 A, Fd Palmoplantar keratoderma, Bothnian type, 600231 (3) 15(Aqp2)
12.301 5 6 98 12q13.12 ARF3 C ADP-ribosylation factor-3 103190 REc, A
12.302 1 31 13 12q13.11 ASB8 P Ankyrin repeat- and SOCS box-containing protein 8 615053 R, REc
12.303 2 1 01 12q13.12 ATF1, TREB36 C Activating transcription factor 1 123803 A, Ch fused with EWS in soft tissue clear cell sarcoma, with FUS in angiomatoid fibrous histiocytoma
12.304 10 6 09 12q13 BCC4 P Basal cell carcinoma, susceptibility to, 4 613061 Fd associated with rs11170164 {Basal cell carcinoma, susceptibility to, 4} (2)
12.305 5 13 13 12q13.12 C1QL4, CTRP11 P Complement component 1, q subcomponent-like 4 615229 REc 5(C1ql4)
12.306 7 17 13 12q13.13 C12orf10, MYG1 P Chromosome 12 open reading frame 10 611366 REc
12.307 10 19 97 12q13.12 CACNB3 P Calcium channel, voltage-dependent, beta 3 subunit 601958 A
12.308 5 19 94 12q13.2 CDK2 P Cyclin-dependent kinase 2 116953 A
12.309 9 2 12 12q13.13 CELA1, ELA1 C Chymotrypsin-like elastase family, member 1 130120 REa, A, REc on proximal 12p 15(Ela1)
12.310 1 12 15 12q13 CMTS P Chronic mountain sickness, susceptibility to 616182 Fd {Chronic mountain sickness, susceptibility to} (2)
12.311 8 23 07 12q13.2 ERBB3, LCCS2 C Transformation gene ERBB-3 190151 A Lethal congenital contractural syndrome 2, 607598 (3)
12.312 3 10 09 12q13.13 ESPL1, ESP1 P Extra spindle poles-like 1 604143 REc prev. mapping to chr.8
12.313 7 20 04 12q13.12 FAIM2, LFG, NMP35 C FAS apoptotic inhibitory molecule 2 604306 Psh, A, REc
12.314 5 26 13 12q13.12 FKBP11, FKBP19 P FK506-binding protein 11 610571 REc
12.315 3 31 15 12q13.12 FMNL3, FRL2 P Formin-like 3 616288 REc
12.316 1 27 04 12q13.13 GALNT6, GalNAcT6 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 605148 A
12.317 5 19 09 12q13.3 GLS2, GA P Glutaminase, liver 606365 R, REc
12.318 3 30 12 12q14.3 HELB, HDHB P Helicase, DNA, B 614539 REc
12.319 2 4 02 12q13.3 HSE P 3-alpha-hydroxysteroid epimerase 606623 A
12.320 2 26 93 12q13.13 HOXC4, HOX3E C Homeo box-C4 142974 RE
12.321 2 26 93 12q13.13 HOXC5, HOX3D C Homeo box-C5 142973 RE 15(Hox6.2)
12.322 2 26 93 12q13.13 HOXC6, HOX3C C Homeo box-C6 142972 RE 15(Hox6.1)
12.323 2 26 93 12q13.13 HOXC8, HOX3A C Homeo box-C8 142970 RE 15(Hox3.1)
12.324 2 26 93 12q13.13 HOXC9, HOX3B C Homeo box-C9 142971 RE 15(Hox3.2)
12.325 2 26 93 12q13.13 HOXC12, HOX3F C Homeo box-C12 142975 RE
12.326 11 19 12 12q13.13 HOXC13, HOX3G, ECTD9 C Homeo box-C13 142976 RE fused with NUP98 in AML Ectodermal dysplasia 9, hair/nail type, 614931 (3)
12.327 12 9 91 12q13 HPV18I2 C Human papillomavirus type 18 integration site-2 167960 REa, A on 8 near MYC in HeLa
12.328 8 29 08 12q13.11 HRG1 P Heme-responsive gene 1 612187 REc
12.329 9 10 07 12q13.2 IKZF4, ZNFN1A4, EOS, KIAA1782 P Ikaros family zinc finger 4 606239 R, REc
12.330 2 2 10 12q13.2 ITGA7 P Integrin, alpha-7 600536 A Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)
12.331 8 27 01 12q13.12 KCNH3, BEC1 C Potassium voltage-gated channel, subfamily H (eag-related), member 3 604527 REc
12.332 3 30 18 12q13.3 KIF5A, NKHC, SPG10, NEIMY, ALS25 C Kinesin family member 5A 602821 A, REc, Fd Spastic paraplegia 10, autosomal dominant, 604187 (3); Myoclonus, intractable, neonatal, 617235 (3); {Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921 (3) 2(Nkhc)
12.333 2 3 12 12q13.13 KRT1, EPPK, NEPPK, EHK C Keratin 1 139350 H, REa, A close to Hox-3 in mouse; class II keratin Epidermolytic hyperkeratosis, 113800 (3); Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3); Ichthyosis histrix, Curth-Macklin type, 146590 (3); Palmoplantar keratoderma, nonepidermolytic, 600962 (3); Palmoplantar keratoderma, epidermolytic, 144200 (3); Keratosis palmoplantaris striata III, 607654 (3) 15(Krt2)
12.334 10 27 97 12q13.13 KRT3 C Keratin 3 148043 A, Fd, R Meesmann corneal dystrophy, 122100 (3)
12.335 5 22 14 12q13.13 KRT4, CYK4, WSN1 C Keratin 4 123940 REa, A class II keratin White sponge nevus 1, 193900 (3)
12.336 11 1 13 12q13.13 KRT5, DDD1 C Keratin 5 148040 A, Fd Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3); Epidermolysis bullosa simplex, Koebner type, 131900 (3); Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3); Epidermolysis bullosa simplex-MP, 131960 (3); Dowling-Degos disease 1, 179850 (3); Epidermolysis bullosa simplex-MCR, 609352 (3); Epidermolysis bullosa simplex, recessive 1, 601001 (3)
12.337 4 10 14 12q13.13 KRT6A, PC3 P Keratin 6A 148041 REa, A Pachyonychia congenita 3, 615726 (3)
12.338 4 10 14 12q13.13 KRT6B, PC4 P Keratin 6B 148042 REa Pachyonychia congenita 4, 615728 (3)
12.339 11 5 13 12q13.13 KRT8 P Keratin 8 148060 Psh Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
12.340 12 5 13 12q13.13 KRT18 C Keratin 18 148070 REn, A contiguous to KRT8, type II heteromer partner Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
12.341 7 17 14 12q13.13 KRT71, K6IRS1, KRT6IRS1, HYPT13 P Keratin 71 608245 REc mutation identified in 1 HYPT13 family ?Hypotrichosis 13, 615896 (3)
12.342 3 22 07 12q13.13 KRT72, K6IRS2, KRT6IRS2 P Keratin 72 608246 REc, REn
12.343 3 22 07 12q13.13 KRT73, K6IRS3, KRT6IRS3 P Keratin 73 608247 REc, REn
12.344 2 17 15 12q13.13 KRT74, K6IRS4, KRT6IRS4, HTSS2, HYPT3, ADWH P Keratin 74 608248 REc, Fd mutation identified in 1 HYPT3 family and ECTD7 family Woolly hair, autosomal dominant, 194300 (3); ?Hypotrichosis 3, 613981 (3); ?Ectodermal dysplasia 7, hair/nail type, 614929 (3)
12.345 10 9 08 12q13.13 KRT75, K6HF, PFB P Keratin 75 609025 REc {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
12.346 3 7 08 12q13.13 KRT81, KRTHB1, HB1 P Keratin 81 602153 A, Fd Monilethrix, 158000 (3)
12.347 11 1 17 12q13.13 KRT83, KRTHB3, HB3, MNLIX, EKVP5 P Keratin 83 602765 REc Monilethrix, 158000 (3); Erythrokeratodermia variabilis et progressiva 5, 617756 (3)
12.348 12 17 12 12q13.13 KRT85, KRTHB5, HB5, ECTD4 P Keratin 85 602767 REc Ectodermal dysplasia 4, hair/nail type, 602032 (3)
12.349 3 7 08 12q13.13 KRT86, KRTHB6, HB6 C Keratin 86 601928 A, Fd Monilethrix, 158000 (3)
12.350 12 18 02 12q13.2 LACRT P Lacritin 607360 A
12.351 10 23 87 12q13.11 LALBA P Lactalbumin, alpha 149750 REa, A
12.352 10 12 10 12q13.12 LIMA1, EPLIN, SREBP3 P LIM domain and actin-binding protein 1 608364 REc
12.353 2 2 01 12q14.1 METTL1 P Methyltransferase-like 1 604466 R
12.354 8 6 13 12q13.3 MIP, AQP0, CTRCT15 C Major intrinsic protein of lens fiber 154050 REa, A slightly distal to AQP2 Cataract 15, multiple types, 615274 (3) 10(Mip)
12.355 3 23 09 12q13.13 MIR196A2, MIRN196A2 P Micro RNA 196A2 609687 REc
12.356 1 2 08 12q13.2 NEUROD4, MATH3 P Neurogenic differentiation 4 611635 R, REc 10(Neurod4)
12.357 10 15 94 12q13.13 NFE2 C Nuclear factor, erythroid-derived 2, 45kD 601490 A, H 15(Nfe2)
12.358 9 15 99 12q13.13 MAP3K12, ZPK P Mitogen-activated protein kinase kinase kinase 12 600447 REa, A
12.359 9 7 90 12q13.13 NR4A1, HMR, NP10, GFRP1 P Nuclear receptor subfamily 4, group A, member 1 139139 A 15(np10)
12.360 3 17 16 12q13.12 SLC11A2, NRAMP2, DCT1, DMT1, AHMIO1 P Solute carrier family 11 (proton-coupled divalent metal ion transporter) member 2 600523 A Anemia, hypochromic microcytic, with iron overload 1, 206100 (3) 15(Nramp2, mk)
12.361 12 28 08 12q13.3-q14.1 OS9 C Amplified in osteosarcoma 9 609677 REc, Psh, A
12.362 6 4 98 12q13.2 PA2G4 P Proliferation-associated 2G4, 38kD 602145 A family of genes on 7 chromosomes
12.363 9 28 98 12q13.2 PDE1B1, PDES1B, PDE1B C Phosphodiesterase-1B 171891 Psh, REc 15(Pde1b)
12.364 11 5 97 12q13.3 PRIM1 P Primase, polypeptide-1, 49kD 176635 Psh, A, REc, H 10(Prim1)
12.365 8 18 99 12q13.2 RAB5B P Ras-associated protein RAB5B 179514 A
12.366 8 11 91 12q13.13 RARG C Retinoic acid receptor, gamma polypeptide 180190 A, REa 15(Rarg)
12.367 9 8 11 12q13.2 SARNP, CIP29, HCC1, HSPC316 P SAP domain-containing ribonucleoprotein 610049 REc fused with MLL in AML
12.368 8 22 16 12q13.13 SCN8A, CIAT, EIEE13, BFIS5 P Sodium channel, voltage gated, type VIII, alpha polypeptide 600702 REa, A mutation identified in 1 CIAT family ?Cognitive impairment with or without cerebellar ataxia, 614306 (3); Epileptic encephalopathy, early infantile, 13, 614558 (3); Seizures, benign familial infantile, 5, 617080 (3) 2(med, Scn8a)
12.369 7 13 93 12q13.3 SHMT2, GLYA C Serine hydroxymethyltransferase 138450 S, R, A glycine A auxotroph
12.370 8 18 99 12q14.1 SLC16A7, MCT2 P Solute carrier family 16 (monocarboxylic acid transporters), member 7 603654 REa, A
12.371 8 29 03 12q13.11 SLC38A4, NAT3, ATA3 C Solute carrier family 38 (amino acid transporter), member 4 608065 REc, Psh, A
12.372 9 9 03 12q13.13 SOAT2, ACACT2 P Sterol O-acyltransferase 2 601311 REc
12.373 9 10 14 12q13 SPDT P Spondyloepiphyseal dysplasia tarda, autosomal dominant 184100 Fd Spondyloepiphyseal dysplasia tarda, autosomal dominant (2)
12.374 6 10 98 12q13.3 STAT6 C Signal transducer and activator of transcription-6, interleukin-4 induced 601512 A, H, REc 10(Stat6)
12.375 4 24 96 12q13.12-q13.13 TFCP2 C Transcription factor CP2, alpha globin 189889 REa, H, A
12.376 8 17 16 12q13.12 WNT10B, SHFM6, STHAG8 P Wingless-type MMTV integration site family, member 10B 601906 A Split-hand/foot malformation 6, 225300 (3); Tooth agenesis, selective, 8, 617073 (3)
12.377 12 17 15 12q13-q14 DFNA48 P Deafness, autosomal dominant 48 607841 Fd Deafness, autosomal dominant 48 (2)
12.378 10 18 96 12q13.2 GCN5L1 P GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1 601444 A
12.379 3 11 03 12p11.21 IPO8, RANBP8 P Importin 8 605600 R
12.380 5 28 99 12q13-q14 PABPL2 P Poly(A)-binding protein-like 2 604681 A ?pseudogenes on 3q and 13q
12.381 6 2 99 12q13.2 RDH5 P Retinol dehydrogenase-5 601617 REa, A Fundus albipunctatus, 136880 (3)
12.382 8 31 98 12q13.2 SILV, D12S53E, PMEL17 P Silver, mouse, homolog of 155550 REa 10(si)
12.383 6 25 99 12q13.2 SMARCC2, BAF170 P SW1/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 601734 Psh, R
12.384 6 25 99 12q13.12 SMARCD1, BAF60A P SW1/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 601735 Psh, R
12.385 1 5 07 12q14.1 TSFM, COXPD3 C Ts translation elongation factor, mitochondrial 604723 REa, A Combined oxidative phosphorylation deficiency 3, 610505 (3)
12.386 1 20 06 12q14.1 TSPAN31, SAS P Tetraspanin 31 181035 REa, A
12.387 12 17 15 12q13.3 MYO1A C Myosin IA 601478 A 10(Myo1a)
12.388 6 2 98 12q15 YEATS4, GAS41 P YEATS domain-containing protein 4 602116 REc
12.389 9 30 95 12q13-q21 ENUR2 P Enuresis, nocturnal, 2 600808 Fd Enuresis, nocturnal, 2 (2)
12.390 9 28 12 12q13.3 TAC3, NKNB, HH10 P Tachykinin 3 (neuromedin K, neurokinin B) 162330 REa, A Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3)
12.391 3 18 94 12q24.33 ZNF10, KOX1 C Zinc finger protein-10 (KOX 1) 194538 REa same 300kb fragment as ZNF26
12.392 12 21 03 12q13.2 DCD C Dermcidin 606634 R
12.393 11 30 06 12q13.12 DDN, KIAA0749 P Dendrin 610588 R, REc
12.394 8 14 09 12q13.12 DHH, SRXY7, GDXYM C Desert hedgehog 605423 A 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3); 46XY sex reversal 7, 233420 (3)
12.395 2 21 14 12q13.11 ENDOU, PP11 P Endonuclease polyU-specific 606720 REc
12.396 4 25 93 12q13.1-q13.2 HEM1 P Hematopoietic protein-1 141180 REb, A
12.397 11 5 13 12q13.13 HNRNPA1, IBMPFD3, ALS20 P Heterogeneous nuclear ribonucleoprotein A1 164017 A mutation identified in 1 family with IBMPFD3 ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3); Amyotrophic lateral sclerosis 20, 615426 (3)
12.398 1 27 97 12q13.3 INHBC P Inhibin, beta C 601233 A 10(Inhbc)
12.399 1 13 99 12q13.12 PRKAG1 P Protein kinase, AMP-activated, noncatalytic, gamma-1 602742 A
12.400 7 10 08 12q13.11 SENP1 P Sentrin-specific protease family, member 1 612157 REc
12.401 11 4 93 12q13.13 SP1 C Sp1 transcription factor 189906 REa, A 15(Sp1)
12.402 10 12 10 12q13.3 DDIT3, GADD153, CHOP10 C DNA-damage-inducible transcript-3 126337 REa, A, Ch fused with FUS in myxoid liposarcoma Myxoid liposarcoma, 613488 (1)
12.403 8 26 03 12q13.2 DRIP78, HDJ3 P Dopamine receptor-interacting protein, 78kD 606092 REc
12.404 4 17 06 12q14.1 CYP27B1, VDD1, PDDR C Cytochrome P450, subfamily XXVIIB, polypeptide 1 609506 A, Fd Vitamin D-dependent rickets, type I, 264700 (3)
12.405 11 23 16 12q13.3 LRP1, A2MR, KPA C Low density lipoprotein-related protein-1 (alpha-2-macroglobulin receptor) 107770 A mutation identified in 1 KPA family ?Keratosis pilaris atrophicans, 604093 (3) 15(A2mr)
12.406 3 12 14 12q13.11 AMIGO2, ALI1 C Adhesion molecule with Ig-like domain 2 615690 REc, H 15(Amigo2)
12.407 9 30 13 12q13.11 ANP32D, PP32R2 P Acidic leucine-rich nuclear phosphoprotein 32 family, member D 606878 REc
12.408 9 30 14 12q13.3 ARHGEF25, GEFT P Rho guanine nucleotide exchange factor 25 610215 REc
12.409 12 10 13 12q13.11 KANSL2, NSL2, C12orf41 P KAT8 regulatory NSL complex, subunit 2 615488 REc 15(Kansl2)
12.410 10 13 09 12q13.11 RPAP3 P RNA polymerase II-associated protein 3 611477 REc
12.411 3 12 04 12q13.11 SLC38A1 P Solute carrier family 38 (amino acid transporter), member 1 608490 REc, R
12.412 3 15 14 12q13.11 SLC38A2, ATA2, KIAA1382 P Solute carrier family 38, member 2 605180 REc
12.413 4 8 16 12q13.11 SNORA2C, SNORA34, ACA34, MIR1291 P Small nucleolar RNA, H/ACA box, 34 615487 REc, REn MIR1291 in intron of SNORA34
12.414 5 16 11 12q13.11 ZNF641 P Zinc finger protein 641 613906 REc
12.415 6 19 98 12q12 NELL2 P Nel-like 2 602320 A
12.416 10 13 15 12q13.11 COL2A1 C Collagen II, alpha-1 polypeptide 120140 REa, A Stickler syndrome, type I, 108300 (3); Kniest dysplasia, 156550 (3); Achondrogenesis, type II or hypochondrogenesis, 200610 (3); SED congenita, 183900 (3); SMED Strudwick type, 184250 (3); Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3); Spondyloperipheral dysplasia, 271700 (3); Osteoarthritis with mild chondrodysplasia, 604864 (3); Vitreoretinopathy with phalangeal epiphyseal dysplasia (3); Platyspondylic skeletal dysplasia, Torrance type, 151210 (3); Avascular necrosis of the femoral head, 608805 (3); Legg-Calve-Perthes disease, 150600 (3); Stickler sydrome, type I, nonsyndromic ocular, 609508 (3); Czech dysplasia, 609162 (3); Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) 15(Col2a1, seds)
12.417 11 19 11 12q13.11-q15 MRT25 P Mental retardation, autosomal recessive 25 614346 Fd between rs4760658 and rs1882033 Mental retardation, autosomal recessive 25 (2)
12.418 11 11 13 12q13.12 CCDC65, CILD27 P Coiled-coil domain-containing protein 65 611088 REc Ciliary dyskinesia, primary, 27, 615504 (3)
12.419 8 2 13 12q13.12 CERS5, LASS5, TRH4 P Ceramide synthase 5 615335 REc
12.420 9 8 14 12q13.12 COX14, C12orf62 P Cytochrome c oxidase assembly protein COX14 614478 REc, H mutation identified in 1 Cox4 deficient family ?Mitochondrial complex IV deficiency, 220110 (3) 15(C12orf62)
12.421 8 27 08 12q13.12 DDX23, PRP28 P Dead box polypeptide 23 612172 REc
12.422 8 29 07 12q13.12 DIP2B, KIAA1463 P Disco-interacting protein 2, Drosophila, homolog of, B 611379 A, REc Mental retardation, FRA12A type, 136630 (3)
12.423 3 14 14 12q13.12 KMT2D, MLL2, ALR, KABUK1 P Lysine (K)-specific methyltransferase 2D 602113 Psh, R Kabuki syndrome 1, 147920 (3)
12.424 3 28 06 12q13.12 LMBR1L, LIMR, KIAA1174 P Limb region 1 homolog-like 610007 R, REc
12.425 2 25 15 12q13.12 MCRS1, MSP58, MCRS2 P Microspherule protein 1 (microspherule protein 2, included) 609504 R, REc
12.426 3 14 13 12q13.12 NCKAP5L, KIAA1602 P NCK-associated protein 5-like 615104 REc
12.427 5 13 13 12q13.12 RCGAP1, MGCRACGAP, CYK4 P GTPase-activating protein, Rac, 1 604980 R, REc
12.428 6 13 12 12q13.12 RND1, RHO6 P Rho family GTPase 1 609038 REc, A
12.429 6 22 14 12q13.12 TMBIM6, TEGT P Transmembrane BAX inhibitor motif-containing protein 6 600748 REa, A 15(Tegt)
12.430 9 27 17 12q13.12 TUBA1B P Tubulin, alpha-1B 602530 REc 15(Tuba1b)
12.431 3 9 98 12q13.13 PCBP2 P Poly(rC)-binding protein-2 601210 A
12.432 3 14 13 12q13.13 ATG101, C12orf44 P Autophagy-related protein 101 615089 REc
12.433 5 7 01 12q13.13 BIN2 P Bridging integrator 2 605936 A, REc previously mapped to 4q22.1
12.434 11 11 14 12q13.13 CBX5, HP1 P Chromobox homolog 5 604478 R, REc
12.435 12 10 13 12q13.13 COPZ1, COPZ P Coatomer protein complex, subunit zeta-1 615472 REc
12.436 9 28 15 12q13.13 CSAD, CSD, PCAP P Cysteine sulfinic acid decarboxylase 616569 REc
12.437 5 25 13 12q13.13 EIF4B P Eukaryotic translation initiation factor 4B 603928 REc
12.438 3 8 04 12q13.2 GDF11, BMP11 P Growth/differentiation factor 11 603936 R, REc
12.439 11 28 01 12q13.13 GPR84 P G protein-coupled receptor 84 606383 REc 15(Gpr84)
12.440 6 5 08 12q13.13 GRASP, TAMALIN P GRP1-associated scaffold protein 612027 R, REc
12.441 12 4 08 12q13.13 HOTAIR P Hox transcript antisense RNA 611400 R, REc
12.442 7 12 92 12q13.13 ITGB7 C Integrin, beta-7 147559 REa, A 15(Itgb7)
12.443 4 11 14 12q13.13 KRT6C, PPKNEFD P Keratin 6C 612315 REc Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3)
12.444 12 2 15 12q13.13 KRT76, K76, KRT2P P Keratin 76, type II 616671 REc
12.445 2 25 08 12q13.13 KRT77, K1B P Keratin 77 611158 REc
12.446 2 25 08 12q13.13 KRT78, K5B P Keratin 78 611159 REc
12.447 3 7 08 12q13.13 KRT79, KRT6L, K6L P Keratin 79 611160 REc
12.448 2 28 08 12q13.13 KRT80, KB20 P Keratin 80 611161 REc
12.449 11 13 13 12q13.13 KRT82, KRTHB2, HB2 P Keratin 82 601078 REc
12.450 11 13 13 12q13.13 KRT84, KRTHB4, HB4 P Keratin 84 602766 REc
12.451 5 13 11 12q13.13 MIR148B, MIRN148B P Micro RNA 148B 613787 REc
12.452 7 20 09 12q13.2 MYL6B, MLC1SA P Myosin, light chain 6B, alkali, smooth muscle and nonmuscle, slow 609930 R, REc
12.453 5 24 13 12q13.13 PRR13, TXR1 P Proline-rich protein 13 610459 REc
12.454 2 11 15 12q13.13 SP7, OSX, OI12 P Transcription factor Sp7 606633 A, H mutation identified in 1 OI12 patient ?Osteogenesis imperfecta, type XII, 613849 (3) 15(Sp7)
12.455 3 3 16 12q13.13 TNS2, TENC1, C1TEN, KIAA1075 P Tensin 2 607717 R, REc
12.456 10 27 08 12q13.13 ZNF385A, ZNF385, RZF, HZF P Zinc finger protein 385A 609124 REc
12.457 12 1 15 12q13.2 ESYT1, MBC2, FAM62A P Extended synaptotagmin-like protein 1 616670 REc
12.458 5 17 17 12q13.13 GTSF1, FAM112B P Gametocyte-specific factor 1 617484 REc
12.459 2 6 09 12q13.3 IL23A, SGRF, P19, IL23P19 C Interleukin 23, p19 subunit 605580 R, REc
12.460 2 25 09 12q14.1 LIRG3, LIG3 C Leucine-rich repeats- and immunoglobulin-like domains-containing protein 3 608870 A, H 10(Lrig3)
12.461 3 1 06 12q13.2 MYL6 P Myosin light chain 6, alkali, smooth muscle and nonmuscle 609931 R, REc
12.462 4 7 10 12q13.2 ORMDL2 P ORM1-like protein 2 610074 REc pseudogene on 8q22.1
12.463 3 3 10 12q13.2 PPP1R1A, IPP1, I1 P Protein phosphatase 1, regulatory subunit 1A 613246 REc
12.464 3 29 10 12q13.2 RPL41, HG12 P Ribosomal protein L41 613315 REc
12.465 3 20 07 12q13.2 SBEM P Small breast epithelial mucin 610857 REc
12.466 12 17 07 12q13.12 SPATS2, SPATA10, P59SCR, SCR59 P Spermatogenesis-associated serine-rich protein 2 611667 REc
12.467 12 1 15 12q13.3 STAT2, IMD44 P Signal transducer and activator of transcription 2 600556 R, REc Immunodeficiency 44, 616636 (3)
12.468 3 7 14 12q13.2 TESPA1, KIAA0748 P Thymocyte-expressed positive selection-associated protein 1 615664 REc
12.469 11 23 09 12q13.3 CS C Citrate synthase, mitochondrial 118950 S, D, REc 10(Cs)
12.470 7 17 91 12q13.3 GLI C Glioma-associated oncogene homolog (zinc finger protein) 165220 REa, A 10(Gli)
12.471 12 19 11 12q13.3 AAA4 P Aortic aneurysm, familial abdominal, 4 614375 Fd associated with rs1466535 Aortic aneurysm, familial abdominal, 4 (2)
12.472 12 3 13 12q13.3 APOF, LTIP P Apolipoprotein F 107760 REc, Psh
12.473 2 25 16 12q13.3 B4GALNT1, GALGT, GALNACT, SPG26 P Beta-1,4-N-acetylgalactosaminyltransferase 1 601873 A, Fd Spastic paraplegia 26, autosomal recessive, 609195 (3)
12.474 12 17 15 12q13.3 DCTN2, DCTN50 P Dynactin 2 607376 R, REc
12.475 10 15 98 12q13.2 DGKA, DAGK1 C Diacylglycerol kinase, alpha, 80kD 125855 REa, A, H 10(Dagk1)
12.476 12 21 09 12q13.3 DTX3 P Deltex, Drosophila, homolog of, 3 613142 REc
12.477 6 9 08 12q13.3 INHBE P Inhibin, beta E 612031 REc
12.478 6 19 15 12q13.3 MARS, MTRNS, METRS, ILLD, CMT2U P Methioninyl-tRNA synthetase 156560 S, REc Interstitial lung and liver disease, 615486 (3); Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3)
12.479 2 20 12 12q13.3 MIR616 P Micro RNA 616 614489 REc
12.480 1 13 16 12q13.3 NEMP1, TMEM194A P Nuclear envelope integral membrane protein 1 616496 REc
12.481 11 3 14 12q13.3 NXPH4, NPH4 P Neuroexophilin 4 604637 REc
12.482 6 26 08 12q13.3 OBFC2B, SSB1 P Oligonucleotide/oligosaccharide-binding fold-containing protein 2B 612104 REc
12.483 5 19 17 12q13.3 PAN2, USP52, KIAA0710 P PABP-dependent poly(A) nuclease 2 617447 R, REc
12.484 3 12 07 12q13.11 PFKM, GSD7 C Phosphofructokinase, muscle type 610681 Psh, A, Fd incorrectly assigned to chr.1 Glycogen storage disease VII, 232800 (3) 15(Pfk4)
12.485 9 1 16 12q13.3 PIP4K2C, PIP5K2C P Phosphatidylinositol 5-phosphate 4-kinase, type II, gamma 617104 REc
12.486 3 1 11 12q13.3 PTGES3, P23, CPGES P Prostaglandin E synthase 3 607061 R, REc
12.487 9 20 14 12q13.3 RBMS2, SCR3 P RNA-binding motif protein, single strand interacting, 2 602387 REc
12.488 7 14 17 12q13.3 SDR9C7, SDRO, ARCI13 P Short chain dehydrogenase/reductase family 9C member 7 609769 REc Ichthyosis, congenital, autosomal recessive 13, 617574 (3) 10(Sdro)
12.489 8 22 14 12q13.3 SLC39A5, MYP24 P Solute carrier family 39 (zinc transporter), member 5 608730 REc Myopia 24, autosomal dominant, 615946 (3)
12.490 11 19 13 12q13.3 STAC3, NAM P SH3 and cystein-rich domains 3 615521 REc Native American myopathy, 255995 (3)
12.491 6 19 98 12q13.3 NAB2 P NGFIA-binding protein-2 602381 A 10(Nab2)
12.492 6 7 10 12q14.1 AVIL P Advillin 613397 A, H 10(Avil)
12.493 5 12 11 12q14.1 CDK4, CMM3 C Cyclin-dependent kinase 4 123829 A {Melanoma, cutaneous malignant, 3}, 609048 (3)
12.494 11 5 13 12q13.3 ARHGAP9 P Rho GTPase-activating protein 9 610576 REc
12.495 2 3 05 12q15 DYRK2 C Dual-specificity tyrosine phosphorylation-regulated kinase 2 603496 REc
12.496 5 6 13 12q14 GLC1P P Glaucoma 1, open angle, P 177700 Ch caused by 300kb duplication Glaucoma 1, open angle, P (4)
12.497 3 27 03 12q14.3 GNS, G6S P N-acetylglucosamine-6-sulfatase 607664 A, REa Mucopolysaccharidosis type IIID, 252940 (3)
12.498 2 22 10 12q15 IFNG, IFG, IFI C Interferon, gamma 147570 REa, A 3 introns; none in IFF, IFL {TSC2 angiomyolipomas, renal, modifier of}, 613254 (3); {Aplastic anemia}, 609135 (3); {Tuberculosis, protection against}, 607948 (3); {AIDS, rapid progression to}, 609423 (3);{Hepatitis C virus, response to therapy of}, 609532 (3) 10(Ifg)
12.499 6 26 17 12q14.3 LEMD3, MAN1 C LEM domain-containing 3 607844 R, Fd Osteopoikilosis with or without melorheostosis, 166700 (3); Buschke-Ollendorff syndrome, 166700 (3)
12.500 9 24 15 12q13.2 MMP19, MMP18, CODA P Matrix metalloproteinase-19 601807 A, Fd triplication in upstream regulatory region Cavitary optic disc anomalies, 611543 (3)
12.501 12 1 11 12q14 PRO2268 P PRO2268 gene 614354 REc
12.502 9 15 89 12q15 RAP1B P RAS-related protein RAP1B 179530 A
12.503 8 5 97 12q14.2 AVPR1A P Arginine vasopressin receptor-1A 600821 Psh, A
12.504 3 22 06 12q21.2 ZDHHC17, HIP14 P Zinc finger DHHC domain-containing protein 17 607799 A
12.505 2 11 16 12q14.1 AGAP2, CENTG1, PIKE P ARF-GAP with GTP-binding protein-like, ankyrin repeat, and pleckstrin homology domains 2 605476 REc
12.506 12 5 17 12q14.1 EEF1AKMT3, METTL21B, FAM119B P EEF1A lysine methyltransferase 3 615258 REc
12.507 5 30 17 12q14.1 FAM19A2, TAFA2 P Family with sequence similarity 19, member A2, CC motif chemokine-like 617496 REc
12.508 6 7 10 12q14.1 MARCH9 P Membrane-associated RING-CH finger protein 9 613336 REc
12.509 10 6 09 12q14.1 MIR26A2, MIRN26A2 P Micro RNA 26A2 613057 REc
12.510 3 23 09 12q14.1 MIRLET7I, LET7I, MIRNLET7I P Micro RNA Let7i 612148 REc
12.511 2 17 16 12q14.1 MON2, KIAA1040 P Mon2, S. cerevisiae, homolog of 616822 REc
12.512 9 30 02 12q14.2 RASSF3 P Ras association domain family protein 3 607019 REc
12.513 10 2 12 12q14.1 USP15 P Ubiquitin-specific protease 15 604731 REc
12.514 9 30 14 12q14.1-q14.2 PPM1H, KIAA1157 P Protein phosphatase, magnesium/manganese-dependent, 1H 616016 REc
12.515 9 20 00 12q15 KCNMB4 P Potassium large conductance calcium-activated channel, subfamily M, beta member 4 605223 REc
12.516 1 20 06 12q21.1 TSPAN8, TM4SF3 P Tetraspanin 8 600769 REc
12.517 8 23 09 12q14.2 AUTS13 P Autism, susceptibility to, 13 610908 Fd linkage with rs1445442 {Autism susceptibility 13} (2)
12.518 4 20 17 12q14.2 C12orf66 P Chromosome 12 open reading frame 66 617420 REc
12.519 6 11 11 12q14.2 DPY19L2, SPGF9 P DPY19-like 2 613893 REc pseudogene on 7p14.3 Spermatogenic failure 9, 613958 (3) 9(Dpy19l2)
12.520 9 1 15 12q14.2 SRGAP1, KIAA1304, NMTC2 P Slit-robo GTPase-activating protein, rho, 1 606523 R, REc {Thyroid cancer, nonmedullary, 2}, 188470 (3)
12.521 3 14 18 12q14.2 TBK1, NAK, FTDALS4, IIAE8 P TANK-binding kinase 1 604834 REc Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3); {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (3)
12.522 1 16 18 12q14.2 RXYLT1, TMEM5, MDDGA10 P Ribitol xylosyltransferase 1 605862 REc Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3)
12.523 9 8 06 12q15 BEST3, VMD2L3 P Bestrophin 3 607337 A
12.524 9 13 17 12q14.3 GRIP1, FRASRS3 P Glutamate receptor-interacting protein 1 604597 REc Fraser syndrome 3, 617667 (3)
12.525 2 25 16 12q14.3 HMGA2, HMGIC, BABL C High-mobility group AT-hook 2 600698 A, Psh, Ch, RE, Fd fusion partners with RAD51B, ALDH2, COX6C, HEI10 in uterine leiomyomas Leiomyoma, uterine, somatic, 150699 (1) 10(pg, Hmgic)
12.526 5 31 07 12q14.3 IRAK3, IRAKM, ASRT5 C Interleukin 1 receptor-associated kinase 3 604459 REc {Asthma susceptibility 5}, 611064 (3)
12.527 6 26 16 12q14.3 LLPH P LLP, Aplysia, homolog of 616998 REc
12.528 2 1 11 12q14.3 MSRB3, DFNB74 P Methionine sulfoxide reductase B3 613719 REc Deafness, autosomal recessive 74, 613718 (3)
12.529 2 17 09 12q14.3 STQTL9 P Stature quantitative trait locus 9 611547 Fd associated with rs1042725 {Stature QTL 9} (2)
12.530 3 7 13 12q14.3 TBC1D30, KIAA0984 P TBC1 domain family, member 30 615077 REc
12.531 3 25 16 12q14.3 TMBIM4, GAAP P Transmembrane BAX inhibitor motif-containing protein 4 616874 REc
12.532 6 13 12 12q14-q15 CAND1, TIP120A, TIP120, KIAA0829 P Cullin-associated neddylation-dissociated protein 1 607727 A, REc
12.533 12 19 11 12q15 MDM2, ACTFS C Mouse double minute 2, homolog of (p53-binding protein) 164785 REa, A {Accelerated tumor formation, susceptibility to}, 614401 (3) 10(Mdm2)
12.534 4 30 03 12q21.1-q21.2 CAPS2 P Calcyphosine 2 607724 REc
12.535 9 9 08 12q15 CNOT2, NOT2 P CCR4-NOT transcription complex, subunit 2 604909 REc
12.536 4 23 09 12q13.3 CNPY4, TMEM4, MSAP P Canopy 2, zebrafish, homolog of 605861 R, REc
12.537 2 18 96 12q15 CPM P Carboxypeptidase M 114860 Psh, REc, A
12.538 4 8 16 12q15 FRS2, FRS1A, SNT1 P Fibroblast growth factor receptor substrate 2 607743 REc
12.539 3 3 09 12q15 IBD26 P Inflammatory bowel disease 26 612639 Fd associated with rs1558744 {Inflammatory bowel disease 26} (2)
12.540 10 17 00 12q15 IL22, IL21, ILTIF P Interleukin 22 605330 R
12.541 11 26 01 12q15 IL26, AK155 P Interleukin 26 605679 REc
12.542 3 15 07 12q15 LRRC10, HRLRRP P Leucine-rich repeat-containing protein 10 610846 R, REc
12.543 1 9 09 12q15 LYZ P Lysozyme 153450 REa, REc Amyloidosis, renal, 105200 (3)
12.544 3 15 11 12q15 MDM1 P Mouse double minute 1 homolog 613813 REc 10(Mdm1)
12.545 1 11 16 12q15 NUP107, NUP84, NPHS11 P Nucleoporin, 107kD 607617 R Nephrotic syndrome, type 11, 616730 (3)
12.546 7 17 14 12q15 PTPRR, PCPTP1 P Protein-tyrosine phosphatase, receptor type, R 602853 REc
12.547 4 25 93 12q15 PTPRB P Protein tyrosine phosphatase, receptor type, beta polypeptide 176882 A
12.548 2 16 02 12q21.1 TRHDE P Thyrotropin-releasing hormone-degrading ectoenzyme 606950 A
12.549 1 31 01 12q21.2 PHLDA1, TDAG51 C Pleckstrin homology-like domain, family A, member 1 605335 R
12.550 8 30 01 12q21.2-q21.3 PPP1R12A, MYPT1 P Protein phosphatase 1, regulatory subunit 12A (myosin phosphatase target subunit 1) 602021 A, R
12.551 2 4 02 12q21.1 GPR49, LGR5 C G protein-coupled receptor-49 606667 R, A
12.552 12 24 13 12q21.1 ATXN7L3B P Ataxin 7-like 3B 615579 REc
12.553 4 10 14 12q21.33 EPYC, DSPG3 P Epiphycan 601657 A, REc
12.554 2 23 09 12q21.2 GLIPR1, GLIPR, RTVP1 P Glioma pathogenesis-related protein 1 602692 REc 10(Glipr1)
12.555 8 19 13 12q21.2 GLIPR1L1 P GLIPR1-like protein 1 610395 REc 10(Glipr1l1)
12.556 8 19 13 12q21.2 GLIPR1L2 P GLIPR1-like protein 2 610394 REc 10(Glipr1l2)
12.557 12 4 02 12q21.31-q21.32 GNTIVH P UDP-N-acetylglucosamine:alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV 607385 A
12.558 10 27 97 12q21.31 MYF5 P Myogenic factor-5 159990 REa, A, RE
12.559 11 7 17 12q21.31 MYF6, CNM3 C Myogenic factor-6 159991 REa, A, RE, REc 6.5kb upstream from MYF5; both prob. 12q15, by H Centronuclear myopathy 3, 614408 (3) 10(Myf6)
12.560 5 2 16 12q23.3 MTERF2, MTERFD3 P Transcription termination factor 2, mitochondrial 616929 REc
12.561 8 28 97 12q21.31 NTS C Neurotensin 162650 REa, A
12.562 12 15 98 12q21.2 PAWR, PAR4 C PRKC, apoptosis, WT1, regulator 601936 A, Psh, R
12.563 10 23 87 12q21 PEPB C Peptidase B 169900 S 10(Pep2)
12.564 1 27 11 12q23.1 RMST, NCRMS, NCRNA00054 P Rhabdomyosarcoma 2-associated transcript 607045 REc
12.565 4 12 92 12q21.33 ATP2B1, PMCA1 P ATPase, Ca++ transporting, plasma membrane, 1 108731 REa, A
12.566 5 5 09 12q21-q23 DUH2 P Dyschromatosis universalis hereditaria 2 612715 Fd between rs1921045 and rs2373584 Dyschromatosis universalis hereditaria 2 (2)
12.567 11 12 98 12q21-q23 MYP3 P Myopia, high grade, 3, autosomal dominant 603221 Fd Myopia-3 (2)
12.568 11 24 98 12q21.2 CSRP2, LMO5 C Cysteine and glycine-rich protein-2 (LIM domain only 5, smooth muscle) 601871 A, R pseudogene on 3q21.1
12.569 2 2 17 12q21.1 KCNC2 C Potassium voltage-gated channel, Shaw-related subfamily, member 2 176256 R, REc previously on 19q13.3-q13.4 10(Kcnc2)
12.570 2 6 08 12q21.2 NAV3, POMFIl1, KIAA0938 P Neuron navigator 3 611629 R, REc
12.571 12 18 08 12q21.1 RAB21, KIAA0118 P RAB-associated protein RAB21 612398 R, REc
12.572 3 23 09 12q21.1 TBC1D15 P TBC1 domain family, member 15 612662 REc
12.573 1 20 09 12q21.1 THAP2 P THAP domain-containing protein 2 612531 REc
12.574 9 8 09 12q21.1 TPH2, NTPH, ADHD7 P Tryptophan hydroxylase 2 607478 REc {Unipolar depression, susceptibility to}, 608516 (3); {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
12.575 4 24 08 12p11.22 MRPS35, MRPS28 P Mitochondrial ribosomal protein S35 611995 REc 3 pseudogenes
12.576 10 16 14 12q21.2 BBS10, C12orf58, FLJ23560 C BBS10 gene 610148 REc, Fd Bardet-Biedl syndrome 10, 615987 (3)
12.577 6 11 09 12q21.2 KRR1 P KRR1, yeast, homolog of 612817 REc
12.578 5 19 06 12q21.2 NAP1L1, NAP1L P Nucleosome assembly protein 1-like 1 164060 R, REc
12.579 9 12 17 12q21.31 PTPRQ, PTPGMC1, DFNB84A, DFNA73 P Protein-tyrosine phosphatase, receptor-type, Q 603317 A, REc mutation identified in 1 DFNA73 family Deafness, autosomal recessive 84A, 613391 (3); Deafness, autosomal dominant 73, 617663 (3) 10(Ptpgmc1)
12.580 10 11 14 12q21.32 CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 C Centrosomal protein, 290kD 610142 R, REc, Fd mutation identified in 1 BBS14 family Joubert syndrome 5, 610188 (3); Senior-Loken syndrome 6, 610189 (3); Leber congenital amaurosis 10, 611755 (3); Meckel syndrome 4, 611134 (3); ?Bardet-Biedl syndrome 14, 615991 (3)
12.581 3 11 09 12q21.33 DCN, CSCD C Decorin 125255 REa, A conflicting assignments to 12q23 and 12q13.2 Corneal dystrophy, congenital stromal, 610048 (3) 10(Dcn)
12.582 6 9 08 12q21.2 E2F7 P E2F transcription factor 7 612046 REc 10(E2f7)
12.583 5 19 14 12q21.31 ALX1, CART1, FND3 P Aristaless-like homeobox 1 (cartilage homeoprotein 1) 601527 REa, REc mutation identified in 1 FND3 patient ?Frontonasal dysplasia 3, 613456 (3)
12.584 6 25 99 12q21.33 GALNT4, GalNAcT4 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 603565 A, Fd
12.585 5 27 97 12q21.33 LUM, LDC C Lumican 600616 A, Psh 10(Ldc)
12.586 4 26 12 12q21.31 SLC6A15, SBAT1 P Solute carrier family 6 (neurotransmitter transporter), member 15 607971 R, REc
12.587 12 1 11 12q21.31 ACSS3 P Acyl-CoA synthetase short-chain family, member 3 614356 REc
12.588 10 1 17 12q21.31 LIN7A, VELI1, MALS1 P Lin7, C. elegans, homolog of, A 603380 REc
12.589 12 29 06 12q24.31 MLXIP, MONDOA, KIAA0867 C MLX-interacting protein 608090 R, A
12.590 11 20 12 12q21.31 OTOGL, C12orf64, DFNB84B P Otogelin-like protein 614925 REc Deafness, autosomal recessive 84B, 614944 (3)
12.591 7 18 12 12q21.31 RASSF9, PAMCI, PCIP1 P Ras association domain family, member 9 610383 REc
12.592 7 18 14 12q21.31 TMTC2 P Transmembrane and tetratricopeptide repeat domains-containing protein 2 615856 REc
12.593 12 19 16 12q21.32 TMTC3, SMILE, LIS8 P Transmembrane and tetratricopeptide repeat domains-containing protein 3 617218 REc Lissencephaly 8, 617255 (3)
12.594 7 22 16 12q21.33 CNA1 P Cornea plana 1, autosomal dominant 121400 Fd between D12S82 and D12S351 Cornea plana 1, autosomal dominant (2)
12.595 6 11 13 12q21.33 DUSP6, MKP3, PYST1, HH19 P Dual-specificity phosphatase-6 602748 Psh, A, REc Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3)
12.596 5 24 16 12q21.33 PACD P Corneal dystrophy, posterior amorphous 612868 REc contiguous gene deletion syndrome Corneal dystrophy, posterior amorphous (4)
12.597 9 24 14 12q21.33 POC1B, PIX1, CORD20 P POC1 centriolar protein, Chlamydomonas, homolog of, B 614784 REc Cone-rod dystrophy 20, 615973 (3)
12.598 12 19 16 12q22 CRADD, RAIDD, MRT34 P Caspase and RIP adaptor with death domain 603454 R Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (3) 10(Raidd)
12.599 3 17 94 12q21.33 BTG1 P B-cell translocation gene 1, anti-proliferative 109580 Ch
12.600 6 27 14 12q22 CEP83, CCDC41, NPHP18 P Centrosomal protein, 83kD 615847 REc Nephronophthisis 18, 615862 (3)
12.601 6 26 16 12q22 CLLU1 P Chronic lymphocytic leukemia upregulated gene 1 616988 REc
12.602 6 26 16 12q22 CLLU1OS P Chronic lymphocytic leukemia upregulated 1, opposite strand 616989 REc
12.603 7 10 13 12q22 EEA1 P Early endosome antigen 1 605070 REc, R
12.604 8 27 15 12q22 FGD6, ZFYVE24 P FYVE, RhoGEF, and ph domain-containing protein 6 613520 REc
12.605 3 6 01 12q21.33 KERA, CNA2 C Keratocan 603288 H, Fd, LD, A Cornea plana 2, autosomal recessive, 217300 (3) 10(Kera)
12.606 5 27 16 12q21.32 KITLG, MGF, SF, SCF, SHEP7, FPHH, DCUA, DFNA69 C KIT ligand (mast cell growth factor; steel, mouse, homolog of) 184745 REa, A associated with dbSNP rs12821256 [Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3); Hyperpigmentation with or without hypopigmentation, 145250 (3); Deafness, autosomal dominant 69, unilateral or asymmetric, 616697 (3) 10(Sl; Scf)
12.607 10 1 95 12q23.1 LTA4H P Leukotriene A4 hydrolase 151570 A
12.608 8 3 12 12q22 METAP2, p67 P Methionine aminopeptidase 2 601870 REc
12.609 12 19 11 12q22 MIR492 P Micro RNA 492 614384 REc within KRT19
12.610 3 5 08 12q22 MRPL42, MRPL31, MRPS32 P Mitochondrial ribosomal protein L42 611847 R, REc
12.611 3 30 12 12q22 NDUFA12 P NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 12 614530 REc Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
12.612 3 18 95 12q23.1 NEDD1 P Neural precursor cell expressed, developmentally down-regulated 1 600372 A
12.613 9 27 17 12q22 NR2C1, TR2 C Nuclear receptor subfamily 2, group C, member 1 601529 R, REc
12.614 12 22 16 12q22 SOCS2AS1 P SOCS2 antisense RNA 1 617269 REc
12.615 2 12 09 12q23.2 SPIC P SPIC transcription factor 612568 REc
12.616 4 26 17 12q22 TMCC3 P Transmembrane and coiled-coil domain family, member 3 617459 REc
12.617 2 3 17 12q23.1 TMPO, LAP2 P Thymopoietin 188380 A 10(Tmpo)
12.618 8 18 14 12q22 UBE2N, UBCHBEN; UBC13 P Ubiquitin-conjugating enzyme E2N 603679 REc
12.619 1 13 06 12q23.2 ASCL1, ASH1 C Achaete-scute complex, Drosophila, homolog-like 1 100790 REa, A distal to PAH and proximal to TRA1 Central hypoventilation syndrome, congenital, 209880 (3); Haddad syndrome, 209880 (3)
12.620 12 17 07 12q24.13 DDX54, DP97 P Dead/H Box 54 611665 REc
12.621 8 9 05 12q23.1 HAL, HSTD C Histidine ammonia-lyase (histidase) 609457 REa, A [Histidinemia], 235800 (3) 10(Hstd)
12.622 9 18 06 12q22 NTN4 P Netrin 4 610401 A
12.623 1 11 07 12q23.1-q23.2 SLC5A8, AIT, SMCT C Solute carrier family (iodide transporter), member 8 608044 REc
12.624 8 21 07 12q23.3 NT5DC3, TU12B1TY, GNN P 5' nucleotidase domain-containing protein 3 611076 A, REc 10(Nt5dc3)
12.625 6 7 04 12q22-q23.2 MDD1 P Major depressive disorder 608520 Fd max lod with D12S1706 Major depressive disorder 1, 608516 (2)
12.626 1 10 12 12q22-q23.3 ETL2, FTLE P Epilepsy, familial temporal lobe 608096 Fd max lod at D12S1706 Epilepsy, familial temporal lobe, 2 (2)
12.627 8 25 04 12q23.2 IGF1 C Insulin-like growth factor-1, or somatomedin C 147440 REa, A, Fd Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3) 10(Igf1)
12.628 4 30 02 12q24.31 ACADS, SCAD C Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain 606885 REa, A Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3) 5(Bcd1)
12.629 10 24 00 12q23.1 APAF1 P Apoptotic protease activating factor 1 602233 A
12.630 1 12 11 12q23.2 C12orf48, AROM, PARPBP P Chromosome 12 open reading frame 48 613687 REc
12.631 4 6 15 12q23.3 CHST11, C4ST1 P Carbohydrate sulfotransferase 11 610128 R
12.632 1 7 95 12q23.1 ELK3, SAP2, ERP P ELK3, ETS-domain protein (SRF accessory protein 2) 600247 REa 6(Scnn1)
12.633 2 7 06 12q23.1 IKIP P I-kappa-B kinase-interacting protein 609861 REc
12.634 9 24 08 12q23.1 SLC17A8, VGLUT3, DFNA25 C Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (vesicular glutamate transporter 3) 607557 REc, Fd Deafness, autosomal dominant 25, 605583 (3)
12.635 2 19 07 12q23.1 SLC25A3, PHC C Solute carrier family 25 (mitochondrial carrier), member 3 600370 REa, A Mitochondrial phosphate carrier deficiency, 610773 (3)
12.636 2 12 16 12q23.2 SYCP3, SCP3, COR1, SPGF4, RPRGL4 P Synaptonemal complex protein 3 604759 REc Spermatogenic failure 4, 270960 (3); Pregnancy loss, recurrent, 4, 270960 (3)
12.637 11 24 08 12q23.1 TMEM16D, FLJ34272 P Transmembrane protein 16D 610111 REc
12.638 5 22 07 12q22 USP44 P Ubiquitin-specific protease 44 610993 R, REc
12.639 3 18 94 12q23.2 PMCH C Pro-melanin-concentrating hormone 176795 REa, A
12.640 8 16 99 12q24.13 RASAL1, RASAL P Ras protein activator-like 1 604118 R
12.641 4 27 12 12q23-q24 SPG36 P Spastic paraplegia-36 613096 Fd between D12S360 and D12S354 Spastic paraplegia 36, autosomal dominant (2)
12.642 12 22 08 12q24.11 USP30 P Ubiquitin-specific protease 30 612492 REc
12.643 2 25 03 12q24.11 ATP2A2, ATP2B, DAR C ATPase, Ca++ transporting, slow-twitch, cardiac muscle-2 108740 REa, A, Fd Darier disease, 124200 (3); Acrokeratosis verruciformis, 101900 (3) 11(Atpb2)
12.644 5 30 17 12q23.3 CRY1, PHLL1, DSPD P Cryptochrome 1 (photolyase-like) 601933 A {Delayed sleep phase disorder, susceptibility to}, 614163 (3) 10(Cry1)
12.645 9 2 09 12q23.3 EID3, NSMCE4B, NSE4B P E1A-like inhibitor of differentiation 3 612986 REc 10(Eid3)
12.646 1 27 97 12q13.3 NACA P Nascent-polypeptide-associated complex alpha polypeptide 601234 A, REa
12.647 4 10 96 12q24.31 PLA2G1B, PLA2A, PLA2, PPLA2 C Phospholipase A2, group IB, pancreas 172410 REa, Fd
12.648 4 19 01 12q23.3 PRDM4, PFM1 P PR domain-containing protein 4 605780 REc, Psh
12.649 12 4 03 12q24.31 RNF34, RFI P Ring finger protein 34 608299 A
12.650 2 20 98 12q23.3 TXNRD1, TXNR P Thioredoxin reductase-1 601112 A
12.651 6 15 12 12q24.11 UNG, DGU, HIGM5 C Uracil-DNA glycosylase 191525 REa, R Immunodeficiency with hyper IgM, type 5, 608106 (3)
12.652 6 16 10 12q24.11 MYL2, CMH10 C Myosin, light polypeptide-2, regulatory, cardiac, slow 160781 A, REa Cardiomyopathy, hypertrophic, 10, 608758 (3)
12.653 12 28 08 12q23.1 ANKS1B, EB1 P Ankyrin repeat and sterile alpha motif domain-containing protein 1B 607815 R, REc
12.654 7 18 14 12q23.1 CDK17, PCTK2, PCTAIRE2 P Cyclin-dependent kinase 17 603440 REc
12.655 11 23 16 12q23.1 GAS2L3, G2L3 P Growth arrest-specific 2-like 3 617224 REc
12.656 8 1 16 12q23.1 NR1H4, FXR, RIP14, PFIC5 P Nuclear receptor subfamily 1 group H member 4 603826 REc Cholestasis, progressive familial intrahepatic, 5, 617049 (3) 10(Fxr)
12.657 5 25 13 12q23.1 SNRPF P Small nuclear ribonucleoprotein polypeptide F 603541 REc
12.658 5 19 15 12q23.1 SCYL2, CVAK104, KIAA1360 P SCY1-like protein 2 616365 REc
12.659 7 20 12 12q23.2 ARL1 P ADP-ribosylation factor-like 1 603425 REc
12.660 1 11 16 12q23.2 CHPT1, CPT, CPT1 P Choline phosphotransferase 1 616747 REc
12.661 4 20 10 12q23.2 DRAM1 P Damage-regulated autophagy modulator 1 610776 R, REc
12.662 1 9 13 12q23.2 HELLPAR, lncHELLP P HELLP syndrome-associated long noncoding RNA 614985 REc
12.663 12 12 12 12q23.2 MYBPC1, LCCS4 P Myosin-binding protein C, slow type 160794 REa, REc Arthrogryposis, distal, type 1B, 614335 (3); Lethal congenital contracture syndrome 4, 614915 (3)
12.664 4 14 05 12q23.2 NUP37, p37 P Nucleoporin, 37kD 609264 REc
12.665 7 16 09 12q23.2 UTP20, DRIM P UTP20, S. cerevisiae, homolog of 612822 A
12.666 4 6 15 12q23.3 ALDH1L2 P Aldehyde dehydrogenase 1 family, member L2 613584 REc
12.667 11 30 06 12q24.11 ALKBH2, ABH2 P AlkB, E. coli, homolog of, 2 610602 REc
12.668 3 13 08 12q23.2 GNPTAB, GNPTA C N-acetylglucosamine-1-phosphate transferase, alpha/beta subunits 607840 F, S, D, REc conflicting assignment to 4q Mucolipidosis III alpha/beta, 252600 (3); Mucolipidosis II alpha/beta, 252500 (3)
12.669 9 7 04 12q23.3 HCFC2, HCF2 P Host cell factor C2 607926 R, REc
12.670 9 8 08 12q23.3 HSP90B1, TRA1, GRP94, GP96 C Heat-shock protein, 90kD, beta, 1 191175 REa, A, REc 10(Tra1)
12.671 8 29 13 12q23.3 NFYB P Transcription factor NF-Y, B subunit 189904 REa, A, REc 10(Nfyb)
12.672 5 29 12 12q23.3 NUAK1, ARK5, KIAA0537 P NUAK family, SNF1-like kinase, 1 608130 REc, R
12.673 12 19 11 12q23.3 POLR3B, RPC2, C128, HLD8 P Polymerase III, RNA, subunit B 614366 REc Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
12.674 12 10 12 12q23.3 RIC8B P Ric8, C. elegans, homolog of, B 609147 REc
12.675 2 27 07 12q23.3 SLC41A2 P Solute carrier family 41, member 2 610802 REc 10(Slc41a2)
12.676 4 20 17 12q23.3 WASHC4, KIAA1033, SWIP, MRT43 C WASH complex, subunit 4 615748 REc, Psh mutation identified in 1 MRT43 family ?Mental retardation, autosomal recessive 43, 615817 (3)
12.677 1 29 01 12q24.31 ABCB9 P ATP-binding cassette, subfamily B, member 9 605453 REc
12.678 4 14 15 12q24.12 ATXN2, ATX2, SCA2, ASL13 C Ataxin-2 601517 Fd Spinocerebellar ataxia 2, 183090 (3); {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3); {Parkinson disease, late-onset, susceptibility to}, 168600 (3)
12.679 3 9 09 12q24.12 BRAP, BRAP2, IMP P BRCA1-associated protein 604986 REc
12.680 5 28 08 12q24 CELIAC13 P Celiac disease, susceptibility to, 13 612011 Fd associated with rs3184504 {Celiac disease, susceptibility to, 13} (2)
12.681 2 10 04 12q24 CIMT P Carotid intimal medial thickness 608447 Fd 161cM from pter; near SCARB1 Carotid intimal medial thickness (2)
12.682 1 2 03 12q24.11 DAO, DAMOX C D-amino-acid oxidase 124050 REa, Fd, LD tightly linked to SCA2 {Schizophrenia}, 181500 (2)
12.683 1 19 01 12q24.13 DTX1 P Deltex, Drosophila, homolog of, 1 602582 R, A
12.684 6 8 07 12q24.23 HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A C Heat-shock 22-kD protein 8 608014 REc, Fd Neuropathy, distal hereditary motor, type IIA, 158590 (3); Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3)
12.685 2 5 16 12q24.21 MED13L, THRAP2, PROSIT240, TRAP240L, KIAA1025, MRFACD P Mediator complex subunit 13-like 608771 A, REc Transposition of the great arteries, dextro-looped 1, 608808 (3); Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3) 5(Med13l)
12.686 2 20 03 12q24.11 MMAB P MMAB gene 607568 Fd Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
12.687 11 7 15 12q24.11 MVK, MVLK, POROK3 C Mevalonate kinase 251170 REa, A Mevalonic aciduria, 610377 (3); Hyper-IgD syndrome, 260920 (3); Porokeratosis 3, multiple types, 175900 (3)
12.688 2 1 00 12q24.31 NCOR2, SMRT P Nuclear receptor corepressor 2 600848 A
12.689 6 8 15 12q24.31 ORAI1, TMEM142A, CRACM1, IMD9, TAM2 P ORAI calcium release-activated calcium modulator 1 610277 Fd, REc Immunodeficiency 9, 612782 (3); Myopathy, tubular aggregate, 2, 615883 (3)
12.690 1 27 09 12q24.31 P2RX7, P2X7 P Purinergic receptor P2X, ligand-gated ion channel, 7 602566 A, R
12.691 8 17 12 12q24 PDA1 P Patent ductus arteriosus 607411 Fd {Patent ductus arteriosus, susceptibility to} (2)
12.692 6 25 99 12q24.23 PXN P Paxillin 602505 A
12.693 12 30 03 12q24.11 RAD9B P RAD9, S. pombe, homolog of, A 608368 REc 5(Rad9b)
12.694 10 1 95 12q24.11 SELPLG, PSGL1 P Selectin P ligand 600738 REa, A 5(Selpl)
12.695 7 12 11 12q24.12 SH2B3, LNK C SH2B adaptor protein 3 605093 R, Fd Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3); Erythrocytosis, somatic, 133100 (3)
12.696 3 30 18 12q24.13 SLC8B1, SLC24A6, NCKX6 P Solute carrier family 8 member B1 609841 REc 5(Slc24a6)
12.697 2 16 04 12q24 SLEB4 P Systemic lupus erythematosus, susceptibility to, 4 608437 Fd {Systemic lupus erythematosus, susceptibility to, 4} (2)
12.698 11 2 05 12q24.31 HPD C 4-hydroxyphenylpyruvate dioxygenase 609695 REa, A Tyrosinemia, type III, 276710 (3); Hawkinsinuria, 140350 (3)
12.699 6 9 98 12q24.11 ACACB, ACCB, ACC2 P Acetyl-Coenzyme A carboxylase, beta 601557 A
12.700 2 25 14 12q24.12 ACAD10 P Acyl-CoA dehydrogenase family, member 10 611181 REc
12.701 2 20 07 12q23.3 APPL2, FLJ10659 P Adaptor protein, phosphotyrosine interaction, PH domain, and leucine zipper-containing protein 2 606231 Ch, REc
12.702 8 21 98 12q24.31 BCL7A, BCL7 P B-cell CLL/lymphoma-7A 601406 Ch B-cell non-Hodgkin lymphoma, high-grade (3)
12.703 3 16 99 12q23.3 CMKLR1 P Chemokine-like receptor 1 602351 A
12.704 1 31 01 12q24.11 CORO1C P Coronin 1C 605269 A
12.705 6 30 05 12q24.11 FOXN4 P Forkhead box N4 609429 R, REc
12.706 4 13 10 12q23.3 ISCU, HML C Iron-sulfur cluster scaffold, E. coli, homolog of 611911 R, REc, Fd Myopathy with lactic acidosis, hereditary, 255125 (3)
12.707 3 24 09 12q23.2 PAH, PKU1 C Phenylalanine hydroxylase 612349 REa, A, Fd close to IGF1 Phenylketonuria, 261600 (3); [Hyperphenylalaninemia, non-PKU mild], 261600 (3) 10(Pah)
12.708 12 28 08 12q24.11 PPTC7, TAPP2C P PTC7 protein phosphatase, S. cerevisiae, homolog of 609668 R, REc
12.709 1 13 99 12q24.23 PRKAB1 P Protein kinase, AMP-activated, noncatalytic, beta-1 602740 A
12.710 8 27 15 12q24.13 PTPN11, PTP2C, SHP2, NS1, JMML, METCDS C Protein tyrosine phosphatase, nonreceptor-type, 11 176876 A, Fd Noonan syndrome 1, 163950 (3); LEOPARD syndrome 1, 151100 (3); Leukemia, juvenile myelomonocytic, somatic, 607785 (3); Metachondromatosis, 156250 (3)
12.711 7 10 08 12q24.13 RPH3A, KIAA0985 P Rabphilin 3A 612159 R, REc
12.712 10 16 14 12q23.3 SART3, P100, KIAA0156, TIP110 C Squamous cell carcinoma antigen recognized by T cells 3 611684 Fd, Psh, REc, H 5(Sart3)
12.713 5 2 07 12q24.1 STUT2 P Stuttering, familial persistent, 2 609261 Fd max lod with PAH Stuttering, familial persistent, 2 (2)
12.714 1 2 08 12q24.11 SVOP P SV2-related protein 611699 REc 5(Svop)
12.715 8 4 97 12q24.21 TBX3 C T-box 3 601621 REc, A Ulnar-mammary syndrome, 181450 (3) 5(Tbx3)
12.716 2 19 97 12q24.21 TBX5 C T-box 5 601620 Fd, REc, Ch Holt-Oram syndrome, 142900 (3) 5(Tbx5)
12.717 3 23 09 12q24.11 TCHP P Trichoplein 612654 R, REc
12.718 6 2 98 12q23.3 TDG P Thymine-DNA glycosylase 601423 A 10(Tdg)
12.719 8 25 11 12q24.11 TECT1, JBTS13 P Tectonic family, member 1 609863 REc, R Joubert syndrome 13, 614173 (3) 5(Tect1)
12.720 5 19 06 12q24.13 TPCN1, TPC1, KIAA1169 P Two-pore segment channel 1 609666 R, REc
12.721 7 18 12 12q24.11 TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3 C Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel) 605427 REc, Fd mutation identified in 1 ANFH2 family Brachyolmia type 3, 113500 (3); Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3); Metatropic dysplasia, 156530 (3); Hereditary motor and sensory neuropathy, type IIc, 606071 (3); Scapuloperoneal spinal muscular atrophy, 181405 (3); [Sodium serum level QTL 1], 613508 (3); Parastremmatic dwarfism, 168400 (3); SED, Maroteaux type, 184095 (3); Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3); Digital arthropathy-brachydactyly, familial, 606835 (3); ?Avascular necrosis of femoral head, primary, 2, 617383 (3) 5(Vroac)
12.722 8 16 94 12q24.11 PPP1CC C Protein phosphatase-1, catalytic subunit, gamma isoform 176914 REa, A 10(Ppp1cc)
12.723 11 13 12 12q24.1-q24.2 POROK2, PPPD1 P Porokeratosis 2, palmar, plantar, and disseminated 175850 Fd between D12S1613 and D12S1341 Porokeratosis 2, palmar, plantar, and disseminated (2)
12.724 9 2 16 12q24.23 CIT, STK21, CRIK, MCPH17 P Citron rho-interacting serine/threonine kinase 605629 REc Microcephaly 17, primary, autosomal recessive, 617090 (3)
12.725 12 10 98 12q24.31 MSI1 C Musashi, Drosophila, homolog of, 1 603328 A, Psh, REc
12.726 8 18 14 12q24.11 ANAPC7, APC7 P Anaphase-promoting complex, subunit 7 606949 REc
12.727 4 5 13 12q24.11 ANKRD13A P Ankyrin repeat domain-containing protein 13A 615123 REc
12.728 11 11 14 12q24.11 ARPC3, ARC21 P Actin-related protein 2/3 complex, subunit 3 604225 REc
12.729 11 1 13 12q24.11 GLTP P Glycolipid transfer protein 608949 REc
12.730 1 3 12 12q24.11 HVCN1, HV1, VSOP P Hydrogen voltage-gated channel 1 611227 REc
12.731 7 26 10 12q24.11 KCTD10 P Potassium channel tetramerization domain-containing 10 613421 REc
12.732 6 1 12 12q24.11 MYO1H P Myosin IH 614636 REc
12.733 4 3 12 12q24.11 SSH1, KIAA1298 P Slingshot, Drosophila, homolog of, 1 606778 R
12.734 4 10 15 12q24.11 UBE3B, BPIDS, KOS P Ubiquitin-protein ligase E3B 608047 REc Kaufman oculocerebrofacial syndrome, 244450 (3) 5(Ube3b)
12.735 9 30 11 12q24.12 FAM109A, SES1, IPIP27A P Family with sequence similarity 109, member A 614239 REc
12.736 7 8 10 12q24.12-q24.13 MAPKAPK5, PRAK C Mitogen-activated protein kinase-activated protein kinase 5 606723 R, REc
12.737 3 5 18 12q24.11 IFT81, DV1, CDV1R, SRTD19 P Intraflagellar transport 81, Chlamydomonas, homolog of 605489 H, REc Short-rib thoracic dysplasia 19 with or without polydactyly 19, 617895 (3) 5(Cdv1, Cdv1r)
12.738 5 12 09 12q24.13 MDM20, C12orf30 P Mitochondrial distribution and morphology 20, yeast, homolog of 612755 REc
12.739 5 25 13 12q24.13 SDS, SDH P Serine dehydratase 182128 REc
12.740 12 29 09 12q24.13 TRAFD1, FLN29 P TRAF-type zinc finger domain-containing 1 613197 REc
12.741 6 30 15 12q24.13-q24.21 RBM19, KIAA0682 C RNA-binding motif protein 19 616444 R, REc
12.742 7 8 10 12q24.12 ALDH2 C Aldehyde dehydrogenase 2 family, mitochondrial 100650 REa, A, H Alcohol sensitivity, acute, 610251 (3); {Hangover, susceptibility to}, 610251 (3); {Sublingual nitroglycerin, susceptibility to poor response to} (3); {Esophageal cancer, alcohol-related, susceptibility to} (3) 4(Aldh2)
12.743 1 9 13 12q24.31 CAMKK2, KIAA0787, CAMKKB P Calcium/calmodulin-dependent protein kinase kinase 2, beta 615002 REc
12.744 10 9 14 12q24.31 COX6A1, CMTRID P Cytochrome c oxidase, subunit VIa, polypeptide-1 602072 REc pseudogenes on chr.7 and chr.6 Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3)
12.745 2 21 06 12q24.31 DYNLL1, DNCL1, DLC1, PIN P Dynein, light chain, LC8-type 1 601562 A, REc, REn possible pseudogene on 14q24
12.746 2 9 01 12q24.23 GCN1L1 P General control of amino acid synthesis 1, yeast, homolog-like 1 605614 R, REa
12.747 3 29 12 12q24.31 HNF1A, TCF1, MODY3, IDDM20 C HNF1 homeobox B 142410 A, Fd MODY, type III, 600496 (3); {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3); {Diabetes mellitus, insulin-dependent}, 222100 (3); Hepatic adenoma, somatic, 142330 (3); Renal cell carcinoma, 144700 (3); Diabetes mellitus, insulin-dependent, 20, 612520 (3) 5(Tcf1)
12.748 8 8 13 12q24.22 HRK, DP5 P Harakiri 603447 REc
12.749 1 31 07 12q24.22-q24.23 KSR2 P Kinase suppressor of RAS 2 610737 REc
12.750 12 11 02 12q24.2 NIDDM2 P Diabetes mellitus, noninsulin-dependent, 2 601407 Fd no mutations found in HNF1A Diabetes mellitus, noninsulin-dependent, 2 (2)
12.751 3 16 06 12q24.13 OAS1, OIAS C 2',5'-oligoadenylate synthetase-1 164350 REa, A, REc {Viral infection, susceptibility to} (3); {Diabetes mellitus, type 1, susceptibility to}, 222100 (3)
12.752 6 24 99 12q24.13 OAS2 P 2',5'-oligoadenylate synthetase-2 603350 A, REc
12.753 6 24 99 12q24.13 OAS3 P 2',5'-oligoadenylate synthetase-3 603351 A, REc
12.754 11 16 98 12q24.31 OASL, TRIP14 P 2',5'-oligoadenylate synthetase-like 603281 REc
12.755 12 7 07 12q24.22 TESC, TSC P Tescalcin, mouse, homolog of 611585 R, REc, H 5(Tesc)
12.756 6 26 16 12q24.23 BICDL1, BICDR1, CCDC64 P BICD family-like cargo adaptor 1 617002 REc
12.757 9 9 08 12q24.22 FBXO21, FBX21, KIAA0875 C F-box only protein 21 609095 REc 5(Fbxo21)
12.758 9 9 08 12q24.22 FBXW8, FBW8, FBXW6, FBW6, FBXO29, FBX29 P F-box and WD40 domain protein 8 609073 REc 5(Fbxw8)
12.759 9 8 08 12q24.23 PEBP1, PBP, RKIP C Phosphatidylethanolamine-binding protein 1 604591 R, REc
12.760 10 26 15 12q24.23 RAB35 P Ras-associated protein Rab35 604199 REc
12.761 11 11 09 12q24.23 SRRM4, KIAA1853, NSR100 P Serine/arginine repetitive matrix protein 4 613103 R, REc
12.762 12 22 15 12q24.23 TAOK3, JIK, DPK P TAO kinase 3 616711 REc
12.763 8 18 16 12q24.2-q24.3 RPL21P1, ALFN1, HALF1 P Ribosomal protein L21 pseudogene 1 603416 A
12.764 7 23 13 12q24.2-q24.3 CTRCT37, CCA5 P Cataract 37 614422 Fd between D12S1718 and D12S1723 Cataract 37, autosomal dominant (2)
12.765 5 19 09 12q24.31 HIP1R, HIP12 P Huntingtin-interacting protein 1-related protein 605613 A
12.766 11 16 98 12q24.31 PSMD9 P Proteasome 26S subunit, non-ATPase, 9 603146 A
12.767 7 8 10 12q24.22 NOS1 C Nitric oxide synthase 1, neuronal 163731 REa, A 5(Nos1)
12.768 3 18 95 12q24.23 RFC5 P Replication factor C5, 36.5kD (activator 1, 36.5kD) 600407 Psh, A
12.769 1 30 12 12q24.31 ATP6V0A2, WSS, ARCL2A C ATPase, H+ transporting, lysosomal, V0 subunit A2 611716 R, REc, Fd Cutis laxa, autosomal recessive, type IIA, 219200 (3); Wrinkly skin syndrome, 278250 (3)
12.770 6 15 15 12q24.31 CLIP1, RSN, CYLN1, CLIP170 P CAP-GLY domain containing linker protein 1 179838 A
12.771 10 19 97 12q24.33 MUC8 P Mucin 8, tracheobronchial 601932 REa, A
12.772 4 27 13 12q24.33 POLE1, CRCS12, FILS P Polymerase (DNA directed), epsilon-1 174762 REa, A {Colorectal cancer, susceptibility to, 12}, 615083 (3); FILS syndrome, 615139 (3) 5(Pole)
12.773 6 1 09 12q24.33 RAN, ARA24 P Ras-related nuclear protein 601179 REc
12.774 5 26 13 12q24.33 TMEM132D, KIAA1944, MOLT P Transmembrane protein 132D 611257 REc
12.775 2 9 92 12q24.31 UBC P Ubiquitin C 191340 REa, A
12.776 6 25 99 12q24.33 ULK1, UNC51 P UNC51-like kinase 1 603168 Psh, R, A
12.777 3 24 04 12q24.33 ZNF268 P Zinc finger protein 268 604753 REc
12.778 3 1 18 12q24.31 ZNF664, ZFOC1 C Zinc finger protein 664 617890 REc, A
12.779 2 28 01 12q13.3 BAZ2A P Bromodomain adjacent to zinc finger domain, 2A 605682 REa, R
12.780 12 6 11 12q24.31 AACS, ACSF1 P Acetoacetyl-CoA synthetase 614364 REc
12.781 10 23 14 12q24.31 ARL6IP4 P ADP-ribosylation-like factor 6 interacting protein 4 607668 R, REc
12.782 4 26 10 12q24.31 B3GNT4 P Beta-1,3-N-acetylglucosaminyltransferase 4 605864 REc
12.783 2 13 14 12q24.31 BRI3BP C BRI3-binding protein 615627 REc
12.784 12 5 13 12q24.31 C12orf65, COXPD7, SPG55 P Chromosome 12 open reading frame 65 613541 REc Combined oxidative phosphorylation deficiency 7, 613559 (3); Spastic paraplegia 55, autosomal recessive, 615035 (3)
12.785 9 29 10 12q24.31 CCDC62, ERAP75 P Coiled-coil domain-containing protein 62 613481 REc
12.786 5 19 15 12q24.31 COQ5 P Coq5, S. cerevisiae, homolog of 616359 REc
12.787 2 24 17 12q24.31 DHX37, KIAA1517 C DEAH box polypeptide 37 617362 R, REc
12.788 12 10 15 12q24.31 EIF2B1, EIF2BA P Eukaryotic translation initiation factor 2B, subunit 1 606686 R, REc Leukoencephalopathy with vanishing white matter, 603896 (3)
12.789 10 1 17 12q24.31 GTF2H3, TFB4 P General transcription factor IIH, polypeptide 3 601750 REc
12.790 3 25 14 12q24.31 DENR, DRP P Density-regulated protein 604550 REc
12.791 11 23 16 12q24.31 GATC P Glutamyl-tRNA amidotransferase, subunit C 617210 REc
12.792 2 5 15 12q24.31 NRAV, DYNLL1AS1 P Negative regulator of antiviral response, noncoding 616207 REc overlaps intron 1 of DYNLL1 in antisense orientation
12.793 8 18 14 12q24.31 FAM101A, CFM2 P Family with sequence similarity 101, member A 615927 REc
12.794 8 25 11 12q24.31 SMAC, DIABLO, DFNA64 P Second mitochondria-derived activator of caspase 605219 REc Deafness, autosomal dominant 64, 614152 (3)
12.795 2 21 06 12q24.31 DNAH10 P Dynein, axonemal, heavy chain 10 605884 A, R, REc previously assigned to 13q14
12.796 6 26 01 12q24.31 CDK2AP1, DOC1 P CDK-associated protein 1 (deleted in oral cancer-1) 602198 A
12.797 7 14 14 12q24.31 HCAR1, GPR81, TAGPCR C Hydroxycarboxylic acid receptor 1 606923 REc
12.798 7 14 14 12q24.31 HCAR2, GPR109A, HM74A P Hydroxycarboxylic acid receptor 2 609163 REc
12.799 7 14 14 12q24.31 HCAR3, GPR109B, HM74, PUMAG P Hydroxycarboxylic acid receptor 3 606039 REn
12.800 2 25 15 12q24.31 IL31 P Interleukin 31 609509 REc
12.801 5 6 15 12q24.31 KDM2B, FBXL10, FBL10, CXXC2, JHDM1B P Lysine-specific demethylase 2B 609078 REc
12.802 2 1 11 12q24.31 KNTC1, ROD, KIAA0166 P Kinetochore-associated protein 1 607363 REc previously assigned to chr.17
12.803 3 15 11 12q24.31 MLEC, KIAA0152 P Malectin 613802 REc
12.804 3 11 09 12q24.31 MPVQTL1 P Mean platelet volume quantitative trait locus 1 612573 Fd associated with rs7961894 [Mean platelet volume QTL1] (2)
12.805 3 23 06 12q24.31 POP5, HSPC004 P Processing of precursor 5, S. cerevisiae, homolog of 609992 R
12.806 7 22 11 12q24.31 RILPL1, RLP1, GOSPEL P RAB-interacting lysosomal protein-like 1 614092 REc, H 5(Rilpl1)
12.807 7 22 11 12q24.31 RILPL2, RLP2 P RAB-interacting lysosomal protein-like 2 614093 REc
12.808 9 22 14 12q24.31 RNF10, KIAA0262 C RING finger protein 10 615998 R, REc, H 5(Rnf10)
12.809 10 5 11 12q24.31 SBNO1 P Strawberry notch, Drosophila, homolog of, 1 614274 REc
12.810 1 31 11 12q24.31 SCARB1, CD36L1, CLA1, HDLQTL6 C Scavenger receptor class B, member 1 (CD36 antigen-like 1) 601040 Psh, REc [High density lipoprotein cholesterol level QTL6], 610762 (3)
12.811 8 21 07 12q24.31 SETD1B, SET1B, KIAA1076 P SET domain-containing protein 1B 611055 R, REc
12.812 3 31 15 12q24.23-q24.31 SIRT4, SIR2L4 P Sirtuin, S. cerevisiae, homolog 4 604482 REc
12.813 3 22 07 12q24.31 SPPL3, IMP2 P Signal peptide peptidase-like 3 608240 R, REc
12.814 12 19 11 12q24.31 SRSF9, SFRS9, SRp30c P Splicing factor, serine/arginine-rich, 9 601943 REc
12.815 11 23 15 12q24.31 TCTN2, TECT2, MKS8, JBTS24 P Tectonic family, member 2 613846 REc mutation identified in 1 MKS8 family ?Meckel syndrome 8, 613885 (3); Joubert syndrome 24, 616654 (3)
12.816 2 2 14 12q24.31 THRIL, LINC1992, BRI3BPAS1 P TNF- and HNRNPL-related immunoregulatory long noncoding RNA 615622 REc
12.817 9 24 15 12q24.31 TMEM120B P Transmembrane protein 120B 616551 REc
12.818 12 17 12 12q24.31 TRIAP1, HSPC132 P TP53-regulated inhibitor of apoptosis 1 614943 REc
12.819 1 26 17 12q24.31 VPS33A, MPSPS P Vacuolar protein sorting 33, yeast, homolog of, A 610034 R, REc Mucopolysaccharidosis-plus syndrome, 617303 (3)
12.820 6 1 15 12q24.31 ZCCHC8 P Zinc finger CCHC domain-containing protein 8 616381 REc
12.821 6 9 06 12q24.31 VPS37B P Vacuolar protein sorting 37, yeast, homolog of, B 610037 R, REc
12.822 6 8 01 12q24.13 LHX5 P LIM homeo box protein 5 605992 A
12.823 7 14 98 12q24.31 P2RX4, P2X4 P Purinergic receptor P2X, ligand-gated ion channel, 4 600846 A
12.824 6 22 14 12q24.33 SLC15A4, PHT1, PTR4 P Solute carrier family 15 (oligopeptide transporter), member 4 615806 REc
12.825 6 19 00 12q24.33 ZNF140 P Zinc finger protein-140 604082 A
12.826 9 1 16 12q24.33 ADGRD1, GPR133, PGR25 P Adhesion G protein-coupled receptor D1 613639 REc
12.827 12 9 15 12q24.33 ANKLE2, LEM4, KIAA0692, MCPH16 P Ankyrin repeat- and LEM domain-containing protein 2 616062 R, REc mutation identified in 1 MCPH16 family ?Microcephaly 16, primary, autosomal recessive, 616681 (3)
12.828 5 25 09 12q24.33 CHFR P Checkpoint protein with FHA and ring-finger domains 605209 REc
12.829 2 21 02 12q24.33 EP400, TNRC12, KIAA1498 P p400 SWI2/SNF2-related protein 606265 R
12.830 4 6 13 12q24.33 GALNT9, GALNACT9 P UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 606251 REc
12.831 9 30 09 12q24.33 STX2, EPIM, STX2C, STX2B, STX2A P Epimorphin (syntaxin 2) 132350 A, REc 5(Epim)
12.832 8 30 01 12q24.33 FZD10 P Frizzled, Drosophila, homolog of, 10 606147 A
12.833 5 12 99 12q24.33 MMP17 C Matrix metalloproteinase 17 602285 A, Psh, R 5(Mmp17)
12.834 7 15 09 12q24.33 NOC4L, NOC4 P Nucleolar complex-associated protein 4, S. cerevisiae, homolog of 612819 REc
12.835 11 25 13 12q24.33 P2RX2, P2X2, DFNA41 C Purinergic receptor P2X, ligand-gated ion channel, 2 600844 REc, Fd Deafness, autosomal dominant 41, 608224 (3)
12.836 11 29 12 12q24.33 PGAM5 P Phosphogycerate mutase family, member 5 614939 REc
12.837 3 17 16 12q24.33 PUS1, MLASA1 P Pseudourine synthase 1 608109 R, REc Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3)
12.838 3 27 17 12q24.33 PXMP2 P Peroxisomal membrane protein 2 617399 REc
12.839 2 19 08 12q24.33 RIMBP2, KIAA0318 P RIMS-binding protein 2 611602 R, REc
12.840 4 29 14 12q24.33 SFSWAP, SFRS8, SWAP P Splicing factor, suppressor-of-white-apricot family 601945 REc
12.841 6 7 91 12q24.33 ZNF26 P Zinc finger protein-26 (KOX20) 194537 REa, A
12.842 5 16 02 12q24.31 ANAPC5, APC5 P Anaphase-promoting complex, subunit 5 606948 R
12.843 11 28 01 12q13.13 ATF7 P Activating transcription factor 7 606371 R
12.844 11 5 98 12q13.13 ATP5G2 P ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C, isoform 2 603193 REn
12.845 12 11 02 12q24.13 C12orf8, ERP28, ERP29 P Endoplasmic reticulum lumenal protein 28 602287 R
12.846 1 31 01 12q15 CCT2, CCTB P Chaperonin containing T-complex polypeptide 1, subunit 2 605139 R
12.847 2 6 01 12q15 CPSF6, CFIM P Cleavage and polyadenylation specific factor 6, 68kD subunit 604979 R
12.848 8 21 98 12p12.3 MGST1, GST12 P Microsomal glutathione S-transferase 1 138330 RE, REa pseudogene at 12q13-q14
12.849 7 17 01 12q13.11 EPAC P cAMP-regulated guanine nucleotide exchange factor I 606057 R
12.850 5 12 03 12q24.33 GOLGA3 P Golgi autoantigen, golgin subfamily A, 3 602581 R
12.851 12 11 01 12q13.11 HDAC7A, HDAC7 P Histone deacetylase 7A 606542 R
12.852 8 27 01 12p13.1 HEBP1, HBP P Heme-binding protein 1 605826 R
12.853 1 19 01 12q13.13 HOXC10 P Homeo box-C10 605560 REc 15(Hoxc10)
12.854 1 19 01 12q13.13 HOXC11 P Homeo box-C11 605559 REc 15(Hoxc11)
12.855 1 25 93 12q13.13 IGFBP6 P Insulin-like growth factor-binding protein-6 146735 Psh
12.856 1 30 01 12q24.31 MPHOSPH9, MPP9 P M-phase phosphoprotein 9 605501 R
12.857 1 23 01 12q24.33 PIWIL1 P Piwi, Drosophila, homolog of 605571 R
12.858 1 28 02 12p13.2 PROL4, LPRP P Proline rich 4, lacrimal 605359 R
12.859 4 15 02 12q24.23 RPLP0 P Ribosomal phosphoprotein, large, P0 180510 R
12.860 1 29 01 12q13.13 SLC4A8, NBC3 P Solute carrier family 4 (sodium bicarbonate cotransporter), member 8 605024 R
12.861 5 9 02 12q13.2 SUOX P Sulfite oxidase 606887 R Sulfite oxidase deficiency, 272300 (3)
12.862 4 16 93 Chr.12 TUBAL1 P Tubulin, alpha-like-1 191120 REa
12.863 10 28 99 12q22 VESPR P Virus-encoded semaphorin protein receptor 604259 R
12.864 4 3 02 12q14.3 WIF1 P WNT inhibitory factor 1 605186 R
13.1 9 2 11 13pter-q12.13 FECD2, FCD1 P Corneal dystrophy, Fuchs endothelial, 2 610158 Fd max lod at D13S1304 Corneal dystrophy, Fuchs endothelial, 2 (2)
13.2 4 26 90 13p12 RNR1 C Ribosomal RNA-1 180450 A
13.3 2 28 03 13q12.11 IL17D P Interleukin 17D 607587 REc ?associated with Hodgkin lymphoma
13.4 2 20 07 13q CLQTL1, CLF P Cholesterol level quantitative trait locus 1 604595 Fd [Cholesterol level QTL 1] (2)
13.5 7 25 13 13q12.11 GJA3, CX46, CZP3, CAE3, CTRCT14 C Gap junction protein, alpha-3, 46kD (connexin 46) 121015 REa, A, Fd Cataract 14, multiple types, 601885 (3) 14(Gja3)
13.6 4 19 06 13q12.12 PARP4, ADPRTL1, VPARP, KIAA0177 P Poly(ADP-ribose) polymerase 4 607519 REc
13.7 6 15 99 13q12.11 TUBA2 P Tubulin, alpha 2 602528 REc
13.8 10 25 17 13q12.11 FGF9, SYNS3 P Fibroblast growth factor-9 (glia-activating factor) 600921 A Multiple synostoses syndrome 3, 612961 (3)
13.9 3 6 09 13q12.11 GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID C Gap junction protein, beta-2, 26kD (connexin 26) 121011 REa, A, Fd Deafness, autosomal recessive 1A, 220290 (3); Deafness, autosomal dominant 3A, 601544 (3); Vohwinkel syndrome, 124500 (3); Keratoderma, palmoplantar, with deafness, 148350 (3); Keratitis-ichthyosis-deafness syndrome, 148210 (3); Hystrix-like ichthyosis with deafness, 602540 (3); Bart-Pumphrey syndrome, 149200 (3) 14(Gjb2)
13.10 5 11 00 13q12.11 LATS2 P Large tumor suppressor, Drosophila, homolog of, 2 604861 A 14(Lats2)
13.11 1 6 09 13q12.3 ALOX5AP, FLAP C Arachidonate 5-lipoxygenase-activating protein 603700 R, A, REc {Stroke, susceptibility to}, 601367 (3)
13.12 7 2 13 13q12.13 ATP8A2, ATPIB, CAMRQ4 C ATPase, class I, type 8A, member 2 605870 A ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)
13.13 10 26 98 13q12.13 CDK8 P Cyclin-dependent kinase 8 603184 REc
13.14 1 2 91 13q12.3 FLT1 C fms-related tyrosine kinase-1 (vascular endothelial growth factor/vascular permeability factor receptor) 165070 REa, A 150kb from FLT3
13.15 8 27 15 13q12.2 FLT3 C fms-related tyrosine kinase-3 136351 A, Psh, REn Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3); Leukemia, acute myeloid, somatic, 601626 (3); Leukemia, acute lymphoblastic, somatic, 613065 (3) 5(Flt3)
13.16 12 17 12 13q12.11 GJB6, CX30, DFNA3B, DFNB1B, ECTD2, HED2 C Gap junction protein, beta-6 (connexin-30) 604418 Fd, H Deafness, autosomal dominant 3B, 612643 (3); Deafness, autosomal recessive 1B, 612645 (3); Deafness, digenic GJB2/GJB6, 220290 (3); Ectodermal dysplasia 2, Clouston type, 129500 (3)
13.17 10 1 95 13q12.13 GPR12 P G protein-coupled receptor-12 600752 A
13.18 8 28 02 13q12.3 HMGB1, HMG1 P High-mobility group box 1 (high-mobility group (nonhistone chromosomal) protein 1) 163905 A 5(Hmg1)
13.19 12 17 07 13q13.1 KL, KLOTHO P Klotho 604824 A, REc {Coronary artery disease, susceptibility to} (3); Tumoral calcinosis, hyperphosphatemic, 211900 (3)
13.20 5 7 03 13q13.3-q14.1 LHFP P Lipoma HMGIC fusion partner 606710 REc
13.21 1 6 09 13q12 MCI2 P Myocardial infarction, susceptibility to, 2 608557 Fd defined by 4-SNP haplotype HapA {Myocardial infarction, susceptibility to, 2} (2)
13.22 12 6 98 13q12.12 MIPEP, COXPD31 P Mitochondrial intermediate peptidase 602241 A Combined oxidative phosphorylation deficiency 31, 617228 (3)
13.23 6 15 99 13q12.13 MTMR6 C Myotubularin-related protein 6 603561 R, REc, Psh
13.24 2 1 00 13q12.12 SACS, ARSACS P Sacsin 604490 LD, Fd Spastic ataxia, Charlevoix-Saguenay type, 270550 (3) 1(Sacs)
13.25 10 13 97 13q12.12 SGCG, LGMD2C, DMDA1, SCG3 C Sarcoglycan, gamma (35kD dystrophin-associated glycoprotein) 608896 Fd, LD, A Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
13.26 11 13 17 13q12.13 WASF3, WAVE3, SCAR3 P WAS protein family member 3 605068 A
13.27 12 14 00 13q12.3 UBL3 P Ubiquitin-like 3 604711 REa, R 5(Ubl3)
13.28 10 12 09 13q12-q14 ATOD5 P Dermatitis, atopic, 5 605844 Fd max lod at D13S218 {Dermatitis, atopic, susceptibility to, 5} (2)
13.29 8 2 13 13q13.3 MADH9, SMAD9, MADH6, PPH2 P Mothers against decapentaplegic, Drosophila, homolog of, 9 603295 R, A Pulmonary hypertension, primary, 2, 615342 (3)
13.30 5 1 08 13q14.11 RGC32 P Response gene to complement 32 610077 Psh, R
13.31 3 29 99 13q14.13 TPT1, HRF P Tumor protein, translationally-controlled 1 600763 Psh, R
13.32 8 3 14 13q12.11 IFT88, D13S1056E, TG737 C Intraflagellar transport 88, Chlamydomonas, homolog of 600595 A 14(TgN737Rpw)
13.33 10 26 15 13q12.13 NUP58, NUPL1, KIAA0410 P Nucleoporin 58kDa 607615 R, REc
13.34 8 22 16 13q12.2 PDX1, IPF1, MODY4, PAGEN1 P Pancreas/duodenum homeobox protein 1 600733 Psh, A Pancreatic agenesis 1, 260370 (3); MODY, type IV, 606392 (3); {Diabetes mellitus, type II, susceptibility to}, 125853 (3) 5(Ipf1)
13.35 7 27 09 13q12.12 RNF17 P RING finger protein-17 605793 R, REc
13.36 11 8 00 13q12.12 ATP12A, ATP1AL1 C ATPase, H+/K+ transporting, nongastric, alpha polypeptide 182360 REa, Fd
13.37 9 23 08 13q12.11 ADHD6 P Attention deficit-hyperactivity disorder, susceptibility to, 6 612312 Fd max lod at rs1974047 {Attention deficit-hyperactivity disorder, susceptibility to, 6} (2)
13.38 2 22 10 13q12.11 CFEOM3C, FEOM4 L Fibrosis of extraocular muscles, congenital, 3C 609384 Ch Fibrosis of extraocular muscles, congenital, 3C (2)
13.39 2 7 06 13q12.11 CRYL1 C Crystallin, lambda-1 609877 R, REc, H 14(Cryl1)
13.40 11 29 17 13q12.11 EEF1AKMT1, N6AMT2 P EEF1A lysine methyltransferase 1 617793 REc
13.41 1 14 14 13q12.11 MICU2, EFHA1 P Mitochondrial calcium uptake protein 2 610632 REc
13.42 2 6 08 13q12.11 MPHOSPH8, TWA3 P M-phase phosphoprotein 8 611626 REc
13.43 4 24 08 13q12.11 MRP63 C Mitochondrial ribosomal protein 63 611997 R, REc 10 pseudogenes
13.44 12 18 08 13q12.11 PSPC1, PSP1 P Paraspeckle component 1 612408 REc
13.45 10 17 02 13q12.13 RNF6 C RING finger protein-6 604242 A, REn Esophageal carcinoma, somatic, 133239 (3)
13.46 8 3 12 13q12.11 SAP18 P Sin3-associated polypeptide, 18kD 602949 REc
13.47 7 14 14 13q12.11 TPTE2, TPIP P Transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 606791 REc
13.48 6 30 15 13q12.11 ZMYM2, ZNF198, RAMP, FIM C Zinc finger, MYM-type 2 602221 REc, R, Ch
13.49 6 30 15 13q12.11 ZMYM5, ZNF237, ZNF198L1 P Zinc finger, MYM-type 5 616443 A, R, REc
13.50 8 30 01 13q12.12 TAJ, TROY P Toxicity and JNK inducer 606122 REc 14(Troy)
13.51 11 19 11 13q12.12 C1QTNF9A, CTRP9, C1QTNF9 P C1q- and tumor necrosis factor-related protein 9A 614285 REc 14(C1qtnf9a)
13.52 8 5 11 13q12.12 C1QTNF9B, CTRP9B P C1q- and tumor necrosis factor-related protein 9B 614148 REc
13.53 9 22 16 13q12.12 C1QTNF9BAS1, PCOTH P C1QTNF9B antisense RNA 1 617122 REc
13.54 8 25 11 13q12.12 MYP20 P Myopia 20, autosomal dominant 614166 Fd associated with rs9318086 Myopia 20, autosomal dominant (2)
13.55 3 29 10 13q12.12 SPATA13, ASEF2 P Spermatogenesis-associated protein 13 613324 REc
13.56 5 29 12 13q12.13 FAM123A, AMER2 P Family with sequence similarity 123, member A (APC membrane recruitment protein 2) 614659 REc
13.57 2 2 17 13q12.13 SHISA2, C13orf13, TMEM46 P Shisa family, member 2 617324 REc
13.58 12 5 17 13q12.13 USP12, UBH1 P Ubiquitin-specific protease 12 603091 REc
13.59 4 25 05 13q12.12-q12.13 CENPJ, CPAP, MCPH6, SCKL4 C Centromeric protein J 609279 Fd, REc mutation identified in 1 SCKL4 family Microcephaly 6, primary, autosomal recessive, 608393 (3); ?Seckel syndrome 4, 613676 (3)
13.60 9 3 15 13q12.2 GSX1, GSH1 P GS homeobox 1 616542 REc 5(Gsx1)
13.61 12 28 08 13q12.2 LNX2, PDZRN1 P Ligand of numb protein X2 609733 REc
13.62 5 19 17 13q12.2 PAN3 P PABP-dependent poly(A) nuclease 3 617448 REc
13.63 1 31 11 13q12.2 POLR1D, RPA16, RPAC2, TCS2 P Polymerase I, RNA, subunit D 613715 REc Treacher Collins syndrome 2, 613717 (3)
13.64 12 18 08 13q12.2 RASL11A P RAS-like, family 11, member A 612403 REc
13.65 7 17 14 13q12.2 RPL21, HYPT12 C Ribosomal protein L21 603636 REa, R, REc Hypotrichosis 12, 615885 (3)
13.66 6 22 14 13q12.2 URAD P Ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase 615804 REc
13.67 4 17 00 13q12.2-q13 MBS, MBS1 L Moebius syndrome 157900 Ch ?Moebius syndrome (2)
13.68 10 16 00 13q13.1 AS3 P Androgen-induced prostate proliferative shutoff-associated protein 605333 REc
13.69 2 19 16 13q12.3 B3GLCT, B3GALTL, B3GTL P Beta 3-glucosyltransferase 610308 REc Peters-plus syndrome, 261540 (3)
13.70 11 16 15 13q13.1 BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 C BRCA2 gene 600185 Fd {Breast-ovarian cancer, familial, 2}, 612555 (3); Fanconi anemia, complementation group D1, 605724 (3); {Prostate cancer}, 176807 (3); {Breast cancer, male, susceptibility to}, 114480 (3); Wilms tumor, 194070 (3); {Medulloblastoma}, 155255 (3); {Glioblastoma 3}, 613029 (3); {Pancreatic cancer 2}, 613347 (3) 5(Brca2)
13.71 8 21 98 13q12.2 CDX2, CDX3 C Caudal type homeo box transcription factor 2 600297 A, Psh 5(Cdx2)
13.72 1 16 07 13q12.3 HSPH1, HSP105, KIAA0201 P Heat-shock 105/110kD protein 1 610703 R, REc
13.73 8 21 12 13q12.3 KATNAL1 P Katanin p60 subunit A-like 1 614764 REc
13.74 5 3 10 13q12.3 POMP, UMP1 P Proteasome maturation protein 613386 REc Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)
13.75 8 21 98 13q12.3 SLC7A1, ATRC1 C Solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 104615 Fd, A, REa distal to ATP1AL1 5(Rec1)
13.76 1 20 16 13q12.3 SLC46A3 P Solute carrier family 46, member 3 616764 REc
13.77 7 26 02 13q13.3 SPG20 P Spartin 607111 REc Troyer syndrome, 275900 (3)
13.78 3 22 06 13q13.1-q13.2 STARD13, DLC2 P Start domain-containing protein 13 609866 REc
13.79 4 28 17 13q12.3 USPL1 P Ubiquitin-specific peptidase-like 1 617470 REc
13.80 6 6 00 13q13.3 CCNA1 P Cyclin A1 604036 R
13.81 3 20 95 13q13.2 RFC3 P Replication factor C3, 38kD (activator 1, 38kD) 600405 Psh, A
13.82 12 17 95 13q12.2 GTF3A, TFIIIA P General transcription factor IIIA 600860 A
13.83 12 21 09 13q13.3 DCLK1, DCAMKL1, CLICK1, CL1, KIAA0369 C Doublecortin-like kinase 1 604742 R, A 3(Dclk1)
13.84 10 18 96 13q13.3 MAB21L1 P mab-21 (C. elegans)-like 1 601280 REa, Fd, R
13.85 12 7 03 13q13.3 STOML3, SRO P Stomatin-like protein 3 608327 REc
13.86 7 4 95 13q13-q14.3 ENUR1 P Enuresis, nocturnal, 1 600631 Fd Enuresis, nocturnal, 1 (2)
13.87 11 11 14 13q13.3 EXOSC8, OIP2, RRP43, PCH1C P Exosome component 8 606019 R, REc Pontocerebellar hypoplasia, type 1C, 616081 (3)
13.88 9 14 12 13q13.1 FRY, C13orf14 P Furry, Drosophila, homolog of 614818 REc
13.89 6 27 08 13q13.1 HPRHP P Hypophosphatemic rickets and hyperparathyroidism 612089 Ch ?due to altered KLOTHO expression Hypophosphatemic rickets and hyperparathyroidism (2)
13.90 8 5 15 13q13.1 LGR8, GREAT P Leucine-rich repeat-containing G protein-coupled receptor 8 606655 REc
13.91 6 22 14 13q13.1 N4BP2L2, PFAAP5 P NEDD4-binding protein 2-like 2 615788 REc
13.92 3 3 03 13q13.3 TRPC4, TRP4 P Transient receptor potential cation channel, subfamily C, member 4 603651 A
13.93 3 14 06 13q13.3 NBEA C Neurobeachin 604889 REc, R, REa, Ch site of FRA13A 3(Nbea)
13.94 3 25 14 13q13.3 ALG5 P Alg5, S. cerevisiae, homolog of 604565 REc
13.95 8 14 13 13q14.11 COG6, COD2, KIAA1134, CDG2L, SHNS P Component of oligomeric golgi complex 6 606977 R, REc Congenital disorder of glycosylation, type IIl, 614576 (3); Shaheen syndrome, 615328 (3)
13.96 2 28 03 13q14.11 EPSTI1 P Epithelial stromal interaction 1 607441 REc, REa
13.97 7 26 10 13q13.3 FAM48A, P38IP, C13orf19 P Family with sequence similarity 48, member A 613417 A, R
13.98 9 13 17 13q13.3 FREM2, FRASRS2 P FRAS1-related extracellular matrix protein 2 608945 REc Fraser syndrome 2, 617666 (3) 3(my)
13.99 6 9 09 13q13.3 IBD27 P Inflammatory bowel disease 27 612796 Fd {Inflammatory bowel disease 27} (2)
13.100 4 24 08 13q14.11 MRPS31 P Mitochondrial ribosomal protein S31 611992 REc 4 pseudogenes
13.101 11 3 14 13q13.3 SOHLH2 P Spermatogenesis- and oogenesis-specific basic helix-loop-helix protein 2 616066 REc 3(Sohlh2)
13.102 2 11 13 13q13.3-q21 PAPA5 P Polydactyly, postaxial, type A5 263450 Fd between D13S1288 and D13S632 Polydactyly, postaxial, type A5 (2)
13.103 3 23 09 13q13.3 POSTN, OSF2, PN P Periostin 608777 R, REc
13.104 3 5 18 13q13.3 UFM1, HLD14 P Ubiquitin-fold modifier 1 610553 REc Leukodystrophy, hypomyelinating, 14, 617899 (3)
13.105 10 8 08 13q14 BMIQ2 P Body mass index quantitative trait locus 2 606643 Fd max lod at D13S257 [Body mass index QTL2] (2)
13.106 6 30 08 13q14 BMND9 P Bone mineral density quantitative trait locus 9 612110 Fd associated with rs9594759 [Bone mineral density QTL 9] (2)
13.107 12 7 07 13q14.3 CKAP2, TMAP, LB1 P Cytoskeleton-associated protein 2 611569 A
13.108 10 28 08 13q14.2 CLLD6, C13orf1 P Chronic lymphocytic leukemia deletion region gene 6 607866 REc
13.109 8 29 02 13q14.2 CYSLTR2, CYSLT2 P Cysteinyl leukotriene receptor 2 605666 R
13.110 10 28 08 13q14 CLLS2, D13S25, DBM P Leukemia, chronic lymphocytic, susceptibility to, 2 109543 D >530kb telomeric to RB1 {Leukemia, chronic lymphocytic, susceptibility to, 2} (2)
13.111 5 6 11 13q14 DEL13q14, C13DELq14 P Chromosome 13q14 deletion syndrome 613884 Ch Chromosome 13q14 deletion syndrome (4)
13.112 4 19 01 13q14.2-q14.3 DLEU1, LEU1 P Deleted in lymphocytic leukemia 1 605765 REc
13.113 4 19 01 13q14.2 DLEU2, LEU2, BCMSUN P Deleted in lymphocytic leukemia 2 605766 REc
13.114 10 24 00 13q14 GER P Gastroesophageal reflux 109350 Fd Gastroesophageal reflux (2)
13.115 11 11 14 13q14.2 ITM2B, BRI, ABRI, FBD, RDGCA P Integral membrane protein 2B (BRI gene) 603904 A mutation identified in 1 RDGCA family Dementia, familial British, 176500 (3); Dementia, familial Danish, 117300 (3); ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079 (3)
13.116 12 18 08 13q14.1-q14.2 LRCH1, KIAA1016 C Leucine-rich repeats and calponin homology domain-containing 1 610368 R, REc
13.117 2 1 01 13q14.12 NUFIP1, NUFIP P Nuclear fragile X mental retardation protein-interacting protein 1 604354 REa, A pseudogene on 6q12
13.118 11 15 16 13q14.2 RCBTB1, CLLD7, GLP, RDEOA P RCC1 domain- and BTB domain-containing protein 1 607867 REc Retinal dystrophy with or without extraocular anomalies, 617175 (3)
13.119 11 2 98 13q13.3 RFXAP P Regulatory factor X-associated protein 601861 R Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)
13.120 12 4 96 13q14 RIEG2, RGS2 C Rieger syndrome, type 2 601499 Fd, Ch Rieger syndrome, type 2 (2)
13.121 10 28 08 13q14.2 SETDB2, CLLD8 P SET domain protein, bifurcated, 2 607865 REc
13.122 6 4 99 13q14.11 SLC25A15, ORNT1, HHH C Solute carrier family 25 (mitochondrial carrier), member 15 (ornithine transporter 1) 603861 D, Ch, REc with deficiency of factors VII and X in 3 unrelated cases Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
13.123 4 27 12 13q14 SPG24 P Spastic paraplegia 24, autosomal recessive 607584 Fd Spastic paraplegia 24, autosomal recessive (2)
13.124 2 19 07 13q14.11 TSC22D1, TSC22 P TSC22 domain family, member 1 607715 A
13.125 12 7 07 13q14.11 TNFSF11, OPGL, TRANCE, OPTB2 P Tumor necrosis factor ligand superfamily, member 11 (osteoprotegerin ligand) 602642 R, H Osteopetrosis, autosomal recessive 2, 259710 (3) 14(Trance)
13.126 10 23 87 13q14 XRS L X-ray sensitivity 194370 Ch
13.127 7 19 12 13q14.3 CTAGE3 P Cutaneous T-cell lymphoma-associated antigen 3 608857 REc
13.128 5 31 06 13q14.2 HTR2A C 5-hydroxytryptamine (serotonin) receptor-2A 182135 REa, A, Fd {Schizophrenia, susceptibility to}, 181500 (3); {Obsessive-compulsive disorder, susceptibility to}, 164230 (3); {Seasonal affective disorder, susceptibility to}, 608516 (3); {Alcohol dependence, susceptibility to}, 103780 (3); {Anorexia nervosa, susceptibility to}, 606788 (3); {Major depressive disorder, response to citalopram therapy in}, 608516 (3) 14(Htr2)
13.129 3 11 03 13q14.3 LECT1, CHM1 P Leukocyte cell derived chemotaxin 1 (chondromodulin) 605147 A
13.130 3 23 09 13q14.2 MLNR, GPR38 P Motilin receptor 602885 A
13.131 8 2 13 13q14.11 DNAJC15, MCJ P DNAJ/HSP40 homolog, subfamily C, member 15 615339 A, REc
13.132 8 28 02 13q14.11 FOXO1A, FKHR P Forkhead box O1A (forkhead in rhabdomyosarcoma) 136533 Ch chimeric with PAX3 in t(2;13); fuses with PAX3 Rhabdomyosarcoma, alveolar, 268220 (3)
13.133 8 1 17 13q14.2 PHF11, NYREN34 P PHD finger protein 11 607796 REc
13.134 1 6 09 13q14.3 RNASEH2B, DLEU8, FLJ11712, AGS2 P Ribonuclease H2, subunit B 610326 REc, Fd Aicardi-Goutieres syndrome 2, 610181 (3)
13.135 6 16 97 13q14.2 RB1 C Retinoblastoma-1 614041 Ch, F, Fd Retinoblastoma, 180200 (3); Osteosarcoma, somatic, 259500 (3); Bladder cancer, somatic, 109800 (3); Small cell cancer of the lung, somatic, 182280 (3); Retinoblastoma, trilateral, 180200 (3) 14(Rb1)
13.136 10 23 87 13q14.13 LCP1 C Lymphocyte cytosolic protein-1 (plasmin) 153430 F, D
13.137 1 8 01 13q14.11 MTRF1 P Translational release factor, mitochondrial, 1 604601 R
13.138 12 10 13 13q14.11 AKAP11, AKAP220 P A-kinase anchor protein 11 604696 REc, R
13.139 2 11 15 13q14.11 DGKH P Diacylglycerol kinase, eta, 130kD 604071 REc
13.140 9 23 13 13q14.11 LACC1, C13orf31 P Laccase (multicopper reductase) domain-containing protein 1 613409 REc
13.141 7 6 10 13q14.11 CCDC122 P Coiled-coil domain-containing protein 122 613408 REc
13.142 8 5 99 13q14.13 CPB2, CPU, TAFI C Carboxypeptidase B2, plasma (carboxypeptidase U) 603101 Psh
13.143 8 8 13 13q14.11 ELF1, RIA1, EFTUD1 P E74-like factor 1 189973 A, REc
13.144 4 4 07 13q14.11 ENOX1, CNOX P ECTO-NOX disulfide-thiol exchanger 1 610914 REc
13.145 10 23 87 13q14.2 ESD C Esterase D; S-formylglutathione hydrolase 133280 S, F, D proximal to RB1, WND 14(Es10)
13.146 10 25 17 13q14.11 KBTBD6 P Kelch repeat- and BTB domain-containing protein 6 617738 REc
13.147 10 25 17 13q14.11 KBTBD7 P Kelch repeat- and BTB domain-containing protein 7 617739 REc
13.148 7 8 10 13q14.11 LPRS6 P Leprosy, susceptibility to, 6 613407 Fd associated with rs9533634 and rs3764147 {Leprosy, susceptibility to, 6} (2)
13.149 3 8 07 13q14.13 SLC25A30, KMCP1 P Solute carrier family 25 (mitochondrial carrier, kidney), member 30 610793 REc
13.150 6 12 17 13q14.11 VWA8, KIAA0564 C von Willebrand factor A domain-containing protein 8 617509 REc, H 14(Vwa8)
13.151 3 31 15 13q14.11 WBP4, FBP21 P WW domain-containing binding protein 4 604981 REc
13.152 7 27 09 13q14.13 COG3, SEC34 P Component of oligomeric golgi complex 3 606975 REc
13.153 2 2 14 13q14.13 SIAH3 P SIAH E3 ubiquitin protein ligase family, member 3 615609 REc
13.154 5 25 13 13q14.12-q14.13 GTF2F2, TF2F2, RAP30 P General transcription factor IIF, polypeptide 2, 30kD 189969 REc
13.155 11 3 11 13q14.2 LPAR6, P2RY5, P2Y5, LAH3, ARWH1, HYPT8 C Lysophosphatidic acid receptor 6 609239 REc, Fd in intron 17 of RB gene Hypotrichosis 8, 278150 (3); Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3)
13.156 7 13 15 13q14.13 ZC3H13, KIAA0853 C Zinc finger CCCH domain-containing protein 13 616453 R, REc
13.157 8 1 08 13q14.2 CAB39L P Calcium-binding protein 39-like protein 612175 REc
13.158 2 7 17 13q14.2 EBPL P Emopamil-binding protein-like 617335 REc
13.159 6 22 14 13q14.2 FNDC3A, KIAA0970, HUGO P Fibronectin type III domain-containing protein 3A 615794 REc
13.160 3 23 06 13q14.2 MED4, DRIP36, HSPC126 P Mediator of RNA polymerase II transcription, subunit 4, S. cerevisiae, homolog of 605718 REc
13.161 7 17 02 13q14.3 NEK3 P Never in mitosis gene A-related kinase 3 604044 REa, R
13.162 4 19 16 13q14.2 NUDT15, MTH2, NUDT15D P Nucleoside diphosphate-linked moiety X motif 15 615792 REc {Thiopurines, poor metabolism of, 2}, 616903 (3)
13.163 6 2 15 13q14.2 SUCLA2, MTDPS5 C Succinate-CoA ligase, ADP-forming, beta subunit 603921 REc Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
13.164 8 15 03 13q14.2-q14.1 AUTS3 P Autism, susceptibility to, 3 608049 Ch {Autism susceptibility 3} (2)
13.165 12 14 10 13q14.3 ALG11, KIAA1266, CDG1P P Alg11, S. cerevisiae, homolog of 613666 R, REc Congenital disorder of glycosylation, type Ip, 613661 (3)
13.166 1 29 09 13q14.2 ARL11, ARLTS1 P ADP-ribosylation factor-like 11 609351 REc
13.167 12 30 14 13q14.3 DHRS12, SDR40C1 P Short-chain dehydrogenase reductase family, member 12 616163 REc
13.168 6 15 99 13q14.3 GUCY1B2 C Guanylate cyclase 1, soluble, beta-2 603695 A, Fd
13.169 3 23 14 13q14.3 INTS6, DDX26, DICE1 P Integrator complex subunit 6 604331 Ch, REc
13.170 2 25 15 13q14.2 KCNRG, DLTET P Potassium channel regulator 607947 REc, H 14(Kcnrg)
13.171 8 5 97 13q14.2 KPNA3 P Karyopherin (importin) alpha-3 601892 A
13.172 3 23 09 13q14.2 MIR15A, MIRN15A P Micro RNA 15A 609703 REc
13.173 3 23 09 13q14.2 MIR16-1, MIRN16-1 P Micro RNA 16-1 609704 REc
13.174 1 13 16 13q14.3 NEK5 P Never in mitosis gene A-related kinase 5 616731 REc
13.175 7 1 11 13q14.3 OLFM4, GC1, GW112 P Olfactomedin 4 614061 A, R
13.176 6 15 99 13q14.3 PCDH8 P Protocadherin 8 603580 REc, H 14(Pcdh8)
13.177 1 27 11 13q14.2 RCBTB2, CHC1L P RCC1 domain- and BTB domain-containing protein 2 603524 REc
13.178 7 22 09 13q14.3 STQTL20 P Stature quantitative trait locus 20 612894 Fd associated with rs3118914 {Stature QTL 20} (2)
13.179 7 20 12 13q14.3 SUGT1, SGT1 P Suppressor of G2 allele of Skp1, S. Cerevisiae, homolog of 604098 REc
13.180 2 16 16 13q14.3 THSD1, TMTSP P Thrombospondin type 1 domain-containing protein 1 616821 REc
13.181 8 20 07 13q14.2 TRIM13, RFP2, LEU5 C Tripartite motif-containing protein 13 605661 REc, H 14(Trim13)
13.182 4 17 07 13q14.3 VPS36, EAP45 P Vacuolar protein sorting 36, S. cerevisiae, homolog of 610903 R, REc
13.183 5 24 13 13q14.3 WDFY2 P WD repeat- and FYVE domain-containing protein 2 610418 REc, R
13.184 4 30 02 13q14.3 ATP7B, WND C ATPase, Cu++ transporting, beta polypeptide 606882 F, Fd Wilson disease, 277900 (3) 8(Atp7b)
13.185 3 15 10 13q21 ATXN8 P Ataxin 8 613289 REc CAG repeat results in polyglutamine expansion protein Spinocerebellar ataxia 8, 608768 (3)
13.186 3 9 10 13q21.33 ATXN8OS, SCA8, KLHL1AS C Ataxin 8 opposite strand 603680 REc due to CTG repeat in untranslated DNA Spinocerebellar ataxia 8, 608768 (3)
13.187 10 13 00 13q21.33 KLHL1 P Kelch-like 1 605332 REc
13.188 5 26 13 13q22.3 KCTD12, PFET1, KIAA1778, C13orf2 P Potassium channel tetramerization domain-containing protein 12 610521 REc, A 14(Kctd12)
13.189 11 7 05 13q21 SLI3 P Specific language impairment QTL, 3 607134 Fd max with D13S1317 Specific language impairment QTL, 3 (2)
13.190 2 3 03 13q21.33 DIS3, KIAA1008 P Dis3, S. pombe, homolog of 607533 REc
13.191 11 10 17 13q21.3-q22.1 PIBF1, JBTS33 P Progesterone-induced blocking factor 1 607532 REc Joubert syndrome 33, 617767 (3)
13.192 9 9 08 13q22.2 LMO7, FBXO20, FBX20, KIAA0858 C LIM domain only 7 604362 REa, REc 14(Lmo7)
13.193 10 27 97 13q21-q32 PAPA2 P Postaxial polydactyly, type A2 602085 Fd Postaxial polydactyly, type A2 (2)
13.194 6 15 99 13q21.32 PCDH9 P Protocadherin 9 603581 A, D, H 14(Pcdh9)
13.195 1 29 08 13q21.1 PCDH17, PCDH68 P Protocadherin 17 611760 R, REc
13.196 2 28 97 13q31.1 POU4F1, BRN3A C POU domain, class 4, transcription factor 1 601632 Psh, REc
13.197 4 19 12 13q21.2 DIAPH3, DIA2, DRF3, AUNA1, NSDAN P Diaphanous, Drosophila, homolog of, 3 614567 Fd, REc Auditory neuropathy, autosomal dominant, 1, 609129 (3)
13.198 1 30 12 13q21.2 PCDH20, PCDH13 P Protocadherin 20 614449 REc
13.199 1 1 12 13q21.2 TDRD3 P Tudor domain-containing protein 3 614392 REc
13.200 9 9 10 13q21.33 C13orf37, MOZART1 P Mitotic spindle-organizing protein associated with a ring of gamma-tubulin 613448 REc
13.201 3 11 09 13q22.2 COMMD6 P COMM domain-containing protein 6 612377 REc, H 14(Commd6)
13.202 5 21 99 13q21.33 DACH P Dachshund, Drosophila, homolog of 603803 R, A 13(Dach)
13.203 2 2 14 13q22 DDH1 P Developmental dysplasia of the hip 1 142700 Fd Developmental dysplasia of the hip 1 (2)
13.204 3 16 10 13q22.3 EDNRB, HSCR2, ABCDS, WS4A C Endothelin receptor type B 131244 REa, Ch, LD ?piebald lethal in mouse {Hirschsprung disease, susceptibility to, 2}, 600155 (3); ABCD syndrome, 600501 (3); Waardenburg syndrome, type 4A, 277580 (3)
13.205 2 15 01 13q22.3 FBXL3A, FBL3A, FBL3 P F-box and leucine-rich repeat protein 3A 605653 A 14(Fbxl3)
13.206 2 3 03 13q22.1 KLF12, AP2REP P Kruppel-like factor 12 607531 A
13.207 8 19 13 13q22.3 MYCBP2, PAM, KIAA0916 P Myc-binding protein 2 610392 REc
13.208 8 10 99 13q22.3 SCEL P Sciellin 604112 A
13.209 10 15 01 13q22.3 TNFRSF11B, OPG, OCIF P Tumor necrosis factor receptor superfamily, member 11B 602543 A
13.210 3 11 09 13q22.2 UCHL3 P Ubiquitin carboxyl-terminal esterase L3 603090 REc, H 14(Uchl3)
13.211 12 20 04 13q22-q32 PAND1 P Panic disorder syndrome 1 167870 ?locus on 22 Panic disorder syndrome 1 (2)
13.212 5 26 13 13q21.33 BORA, C13orf34 P Aurora borealis 610510 REc
13.213 6 9 06 13q31.1 NDFIP2, N4WBP5A, KIAA1165 C NEDD4 family-interacting protein 2 610041 R, REc
13.214 12 30 14 13q22.2 TBC1D4, AS160, KIAA0603, NIDDM5 P TPC1 domain family, member 4 612465 REc, R {Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)
13.215 3 2 18 13q22.3 ACOD1, IRG1 P Aconitate decarboxylase 1 615275 REc
13.216 7 18 14 13q22.3 CLN5 C CLN5 gene 608102 Fd, REc Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
13.217 4 6 15 13q22.3 SLAIN1 P SLAIN motif family, member 1 610491 REc 14(Slain1)
13.218 11 30 06 13q34 ADPRHL1, ARH2 P ADP-ribosylhydrolase-like 1 610620 REc
13.219 7 13 17 13q32.1 DZIP1, KIAA0996 C DAZ-interacting zinc finger protein 1 608671 REc
13.220 5 19 15 13q32.1 GPR180, ITR P G protein-coupled receptor 180 607787 A
13.221 8 5 15 13q31.1 SLITRK1, KIAA1910, TTM P SLIT- and NTRK-like family, member 1 609678 REc, H mutation identified in 1 TTM patient Tourette syndrome, 137580 (3); ?Trichotillomania, 613229 (3) 17(Slitrk1)
13.222 12 28 08 13q31.2 SLITRK5, KIAA0918 C SLIT- and NTRK-like family, member 5 609680 R, REc, H 14(Slitrk5)
13.223 11 22 13 13q31.1 SLITRK6, DFNMYP P SLIT- and NTRK-like family, member 6 609681 REc, H Deafness and myopia, 221200 (3) 14(Slitrk6)
13.224 8 21 98 13q32.1 DCT, TYRP2 P Dopachrome tautomerase (dopachrome delta-isomerase; tyrosinase-related protein 2) 191275 A 14(Tyrp2)
13.225 1 29 01 13q32.1 SOX21 P SRY-box 21 604974 Psh, A
13.226 7 27 09 13q32.2 STK24, MST3, MST3B P Serine/threonine protein kinase 24 604984 REc
13.227 4 16 14 13q31-q33 NYS4 P Nystagmus 4, congenital, autosomal dominant 193003 Fd Nystagmus 4, congenital, autosomal dominant (2)
13.228 8 18 14 13q31.1 RNF219, C13orf7 P Ring finger protein 219 615906 REc
13.229 2 17 16 13q31.1 SPRY2, IGAN3 C Sprouty, Drosophila, homolog of, 2 602466 R, REc mutation identified in 1 IGAN3 family {?IgA nephropathy, susceptibility to, 3}, 616818 (3)
13.230 5 13 13 13q31.1 LNCR13Q1 P Long noncoding RNA on 13q (TCONS_00021856) 615230 REc
13.231 3 23 09 13q31.3 MIR17, MIR91, MIRN17 P Micro RNA 17 609416 A, REc within C13orf25; sequence encodes 2 micro RNAs
13.232 11 3 11 13q31.3 MIR17HG, MIRH1, MIHG1, MIRHG1, C13orf25, FGLDS2 P Micro RNA 17 host gene 609415 A, REc Feingold syndrome 2, 614326 (3)
13.233 3 23 09 13q31.3 MIR18A, MIRN18A P Micro RNA 18A 609417 A, REc within C13orf25
13.234 3 23 09 13q31.3 MIR19A, MIRN19A P Micro RNA 19A 609418 A, REc within C13orf25
13.235 3 23 09 13q31.3 MIR19B1, MIRN19B1 P Micro RNA 19B1 609419 A, REc within C13orf25
13.236 3 23 09 13q31.3 MIR20A, MIRN20A P Micro RNA 20A 609420 A, REc within C13orf25
13.237 9 7 10 13q31.3 MIR92A1, MIR92-1, MIRN92-1 P Micro RNA 92A1 609422 A, REc within C13orf25
13.238 9 28 05 13q31.3 PPR2 P Photoparoxysmal response 2 609572 Fd max lod at D13S1230 Photoparoxysmal response 2 (2)
13.239 3 8 07 13q31.3-q32.1 MMVP3 P Mitral valve prolapse, myxomatous 3 610840 Fd max lod at D13S132 Mitral valve prolapse, myxomatous 3 (2)
13.240 9 1 00 13q32.1 ABCC4, MRP4, MOATB C ATP-binding cassette, subfamily C, member 4 605250 R, A
13.241 12 23 05 13q32.3 CLYBL, CLB P Citrate lyase beta-like 609686 R, REc
13.242 2 4 15 13q32.1 DNAJC3, PRKRI, P58, ACPHD P DnaJ, E. coli, homolog of, subfamily C, member 3 (protein kinase inhibitor p58) 601184 A mutation identified in 1 ACPHD family ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3)
13.243 6 15 99 13q31.3 GPC5 P Glypican 5 602446 A
13.244 10 15 09 13q31.3-q32.1 GPC6, OMIMD1 P Glypican 6 604404 R, A Omodysplasia 1, 258315 (3)
13.245 6 18 98 13q32.3 GPR18 P G protein-coupled receptor-18 602042 A 14(Gpr18)
13.246 6 1 12 13q32 KTCN7 P Keratoconus 7 614629 Fd max lod at D13S159 Keratoconus 7 (2)
13.247 5 19 15 13q32 MCOR, C13DELq32, DEL13q32 C Microcoria, congenital (chromosome 13q32 deletion syndrome) 156600 Fd, Ch 35-80kb deletion encompassing TGDS and GPR180 Microcoria, congenital (4)
13.248 6 21 01 13q32.3 PCCA C Propionyl Coenzyme A carboxylase, alpha polypeptide 232000 REa, D, A, Fd Propionicacidemia, 606054 (3) 14(Pcca)
13.249 12 15 98 13q32 SCZD7 P Schizophrenia susceptibility locus, chromosome 13q-related 603176 Fd {Schizophrenia}, 181500 (2)
13.250 2 21 06 13q32 SLEB5 P Systemic lupus erythematosus, susceptibility to, 5 609903 Fd max lod at D13S892 {Systemic lupus erythematosus, susceptibility to, 5} (2)
13.251 10 7 05 13q32.3 ZIC2, HPE5 P ZIC family, member 2 603073 Ch Holoprosencephaly 5, 609637 (3)
13.252 6 30 05 13q32.1 HS6ST3 P Heparan sulfate 6-O-sulfotransferase 3 609401 REc
13.253 2 17 09 13q32-q33 STQTL4 P Stature quantitative trait locus 4 606258 Fd max lod at D13S779 and D13S797 {Stature QTL 4} (2)
13.254 9 15 93 13q33.1 TPP2 C Tripeptidyl peptidase II 190470 REa, A 1(Tpp2)
13.255 8 4 99 13q33.3 TNFSF13B, BLYS, BAFF P Tumor necrosis factor ligand superfamily, member 13B 603969 TM
13.256 9 15 17 13q32.1 CLDN10, OSPL, CPETRL3, HELIX P Claudin 10 617579 REc HELIX syndrome, 617671 (3)
13.257 10 27 08 13q32.1 GPR80 P G protein-coupled receptor 80 606922 REc
13.258 2 13 15 13q32.1 TGDS, SDR2E1, CATMANS P TDP-glucose 4,6-dehydratase 616146 REc Catel-Manzke syndrome, 616145 (3)
13.259 8 27 09 13q32.1 UGGT2, HUGT2 P UDP-glucose glycoprotein glucosyltransferase 2 605898 REc
13.260 12 10 13 13q32.2 FARP1, CDEP P FERM, ARHGEF, and pleckstrin domain-containing protein 1 602654 REc
13.261 9 27 17 13q32.2 IPO5, RANBP5, KPNB3 P Importin 5 602008 REc
13.262 4 26 10 13q32.3 A2LD1, GGACT P AIG1-like domain-containing protein 1 613378 REc
13.263 9 29 10 13q32.3 GPR183, EBI2 P G protein-coupled receptor 183 605741 R
13.264 7 18 14 13q32.3 TM9SF2 P Transmembrane 9 superfamily, member 2 604678 REc
13.265 3 5 18 13q32.3 ZIC5, OPR P Zic family, member 5 617896 REc
13.266 7 27 09 13q32.3 ZIZ1, KIAA1058 P Zizimin 1 607325 R, REc
13.267 9 28 15 13q33.1 ERCC5, XPG, COFS3 C Excision-repair, complementing defective, in Chinese hamster, number 5 133530 S, A Xeroderma pigmentosum, group G, 278780 (3); Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3); Cerebrooculofacioskeletal syndrome 3, 616570 (3) 1(Ercc5)
13.268 11 5 97 13q33.3 EFNB2, EPLG5, LERK5, HTKL P eph-related receptor tyrosine kinase ligand 5 (ephrin-B2) 600527 A 8(Lerk5)
13.269 10 21 99 13q33.1 ITGBL1, TIED P Integrin, beta-like 1 604234 A
13.270 2 18 08 13q33.1 KDELC1, EP58 P KDEL motif-containing 1 611613 REc
13.271 3 16 10 13q33.1 SLC10A2, NTCP2, PBAM C Solute carrier family 10 (sodium/bile acid cotransporter family), member 2 601295 REa, A Bile acid malabsorption, primary, 613291 (3) 8(Slc10a2)
13.272 8 21 98 13q32.2-q32.3 SLC15A1, HPECT1 P Solute carrier family 15 (oligopeptide transporter), member 1 600544 REa, A
13.273 6 4 13 13q33.1 METTL21C, C13orf39 P Methyltransferase-like 21C 615259 REc
13.274 2 11 16 13q32.3-q33.1 NALCN, IHPRF1, CLIFAHDD P Sodium leak channel, nonselective 611549 R, REc Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3); Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3)
13.275 4 22 10 13q33.1-q34 OFC9 P Orofacial cleft 9 610361 Fd associated with rs1830756 Orofacial cleft 9 (2)
13.276 11 3 11 13q33.2 VUR5 P Vesicoureteral reflux 5 614318 Fd nearest marker rs4476030 Vesicoureteral reflux 5 (2)
13.277 9 8 11 13q33.3 ARGLU1 P Arginine- and glutamate-rich protein 1 614046 REc
13.278 11 13 13 13q33.3 MYO16, MYAP3, KIAA0865 P Myosin XVI 615479 REc, R
13.279 7 17 14 13q33.3 LIG4, LIG4S P Ligase IV, DNA, ATP-dependent 601837 A LIG4 syndrome, 606593 (3); {Multiple myeloma, resistance to}, 254500 (3)
13.280 7 27 09 13q34 ARHGEF7, PIXB, COOL1 P Rho guanine nucleotide exchange factor 7 (PAK-interacting exchange factor, beta) 605477 R, REc
13.281 1 23 93 13q34 ATP4B P ATPase, H+, K+ transporting, beta 137217 A
13.282 7 27 09 13q34 ATP11A, ATPIS, ATPIH C ATPase, class VI, type 11A 605868 REc
13.283 8 18 14 13q34 CARKD P Carbohydrate kinase domain-containing protein 615910 REc
13.284 12 3 15 13q34 CARS2, COXPD27 P Cysteinyl-tRNA synthetase 2 612800 R, REc Combined oxidative phosphorylation deficiency 27, 616672 (3)
13.285 8 8 13 13q34 CDC16, APC6 P Cell division cycle 16, S. cerevisiae, homolog of 603461 REc
13.286 9 29 15 13q34 CHAMP1, ZNF828, C13orf8, KIAA1802, MRD40 P Chromosome alignment-maintaining phosphoprotein 1 616327 REc Mental retardation, autosomal dominant 40, 616579 (3)
13.287 9 28 17 13q34 COL4A1, POREN1, HANAC, ICH, BSVD, RATOR C Collagen IV, alpha-1 polypeptide 120130 REa, A, REb, RE, Fd mutation identified in 1 RATOR family Porencephaly 1, 175780 (3); Brain small vessel disease with or without ocular anomalies, 607595 (3); Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3); {Hemorrhage, intracerebral, susceptibility to}, 614519 (3); ?Retinal arteries, tortuosity of, 180000 (3); Schizencephaly, 269160 (3) 8(Col4a1)
13.288 3 18 13 13q34 COL4A2, POREN2, ICH C Collagen IV, alpha-2 polypeptide 120090 REa, A, RE, Fd Porencephaly 2, 614483 (3); {Hemorrhage, intracerebral, susceptibility to}, 614519 (3) 8(Col4a2)
13.289 10 29 09 13q34 CUL4A P Cullin 4A 603137 Psh, A
13.290 5 19 09 13q33.2 DAOA, G72 P D-amino acid oxidase activator 607408 Fd {Schizophrenia}, 181500 (2)
13.291 1 27 11 13q33.2 DAOAAS, G30 P DAOA antisense RAN 607415 REn
13.292 9 15 11 13q34 DFNA33 P Deafness, autosomal dominant 33 614211 Fd maximum lod at D13S285 Deafness, autosomal dominant 33 (2)
13.293 4 15 11 13q34 F7 C Coagulation factor VII 613878 D Factor VII deficiency, 227500 (3); {Myocardial infarction, decreased susceptibility to}, 608446 (3)
13.294 10 23 87 13q34 F10 C Coagulation factor X 613872 D, A, REa Factor X deficiency, 227600 (3) 8(Cf10)
13.295 8 9 05 13q33.1 FGF14, FHF4, SCA27 C Fibroblast growth factor-14 601515 REa, H, Fd Spinocerebellar ataxia 27, 609307 (3) 14(Fhf4)
13.296 2 15 96 13q34 GAS6, AXLLG, AXSF P Growth arrest-specific 6 600441 A 8(Gas6)
13.297 4 2 07 13q34 GRK1, RHOK, RK P G protein-dependent receptor kinase 1 (rhodopsin kinase) 180381 REa, A Oguchi disease-2, 613411 (3)
13.298 11 16 05 13q34 ING1 C Inhibitor of growth 1 601566 A, R Squamous cell carcinoma, head and neck, somatic, 275355 (3)
13.299 2 5 01 13q34 IRS2 P Insulin receptor substrate 2 600797 R, REc {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
13.300 2 9 92 13q34 LAMP1 C Lysosome-associated membrane protein-1 153330 A, REa 8(Lamp1)
13.301 9 26 11 13q34 MCF2L, OST, KIAA0362 P MCF2-like protein 609499 R, REc
13.302 1 31 11 13q34 PCID2 P PCI domain-containing protein 2 613713 REc
13.303 4 10 15 13q34 PROZ, PZ P Protein Z 176895 REc [Protein Z deficiency], 614024 (3)
13.304 7 17 91 13q32.1 RAP2A P RAP2, member of RAS oncogene family (K-rev) 179540 A
13.305 7 27 09 13q34 RASA3 P Ras p21 protein activator 3 605182 R, REc
13.306 6 9 98 13q34 SOX1 P SRY (sex determining region Y)-box 1 602148 A
13.307 11 1 99 13q34 TFDP1, DP1, DRTF1 P Transcription factor Dp-1 189902 A pseudogene on 1q32.3
13.308 9 29 16 13q34 TMCO3, C13orf11 P Transmembrane and coiled-coil domains protein 3 617134 REc
13.309 12 22 17 13q34 TUBGCP3, GCP3, GRIP104, SPC98, ALP6 P Tubulin-gamma complex-associated protein 3 617818 REc
13.310 2 1 11 13q34 UPF3A, RENT3A P UPF3 regulator of nonsense transcripts, yeast, homolog of, A 605530 REc
14.1 4 26 90 14p12 RNR2 C Ribosomal RNA-2 180451 A
14.2 2 17 09 14p11.2-q13 ADIPQTL3, CAQ14 P Adiponectin, serum level of, quantitative trait locus 3 606771 Fd between D14S608 and D14S599 {Adiponectin, serum level of, QTL3} (2)
14.3 1 31 01 14q12 ADAP6, ADAP100 C A-kinase anchor protein 6 604691 R, REc
14.4 8 14 15 14q32.12 GOLGA5, RFG5 P Golgi autoantigen, golgin subfamily A, 5 606918 REc fused with RET to form PTC5
14.5 4 21 98 14q23.2-q23.3 ESR2 P Estrogen receptor-2 (ER beta) 601663 REa, R
14.6 6 2 98 14q21.1 MGEA, MEA6 P Meningioma-expressed antigen 6 602132 A ?pseudogenes on other chromosomes
14.7 8 18 14 14q21.3 RPS29, DBA13 P Ribosomal protein S29 603633 R, Diamond-Blackfan anemia 13, 615909 (3)
14.8 7 7 17 14q32.2 YY1, GADEVS P YY1 transcription factor 600013 REa, H Gabriele-de Vries syndrome, 617557 (3) 12(Yy1)
14.9 3 30 11 14q11.2 RPGRIP1, LCA6, CORD13 C Retinitis pigmentosa GTPase regulator-interacting protein 605446 R, REa Leber congenital amaurosis 6, 613826 (3); Cone-rod dystrophy 13, 608194 (3)
14.10 9 2 09 14q11.2 TRNAP1, TRP1 C tRNA proline-1 189930 REa, A, Fd
14.11 1 16 18 14q11 ZFHX2AS1 P ZFHX2 antisense RNA 1 617833 REc, H 14(Zfhx2as1)
14.12 6 26 00 14q11.2 ZNF219 P Zinc finger protein-219 605036 REc
14.13 5 6 09 14q11.2 DAD1 P Defender against cell death 1 600243 A 14(Dad1)
14.14 2 21 02 14q11-q12 IBD4 P Inflammatory bowel disease 4 606675 Fd {Inflammatory bowel disease 4} (2)
14.15 10 7 13 14q11.2 MMP14, WNCHRS P Matrix metalloproteinase 14 (membrane-inserted) 600754 A mutation identified in 1 family ?Winchester syndrome, 277950 (3)
14.16 3 28 15 14q11.2 TRL-AAG2-1, TRNAL1, TRL1 C tRNA leucine (AAG) 2-1 189932 REa, A, Fd
14.17 9 2 09 14q11.2 TRNAP2, TRP2 C tRNA proline-2 189931 REa, A, Fd
14.18 9 2 09 14q11.2 TRNAT2, TRT2 C tRNA threonine-2 189933 REa, A, Fd
14.19 4 27 12 14q22.1 ATL1, SPG3A, HSN1D C Atlastin GTPase 1 606439 REc, Fd Spastic paraplegia 3A, autosomal dominant, 182600 (3); Neuropathy, hereditary sensory, type ID, 613708 (3)
14.20 1 21 07 14q12 GMPR2 C Guanosine monophosphate reductase 2 610781 REc
14.21 9 29 10 14q11-q22 DEL14q11q22, C14DELq11q22 P Chromosome 14q11-q22 deletion syndrome 613457 Ch contiguous gene syndrome Chromosome 14q11-q22 deletion syndrome (4)
14.22 7 11 95 14q24.1 PIGH L Phosphatidylinositol glycan, class H 600154 H 12(Pigh)
14.23 1 27 04 14q11.2 C14orf18, HEI10 P Human enhancer of invasion 10 608249 REc
14.24 12 17 08 14q11.2 METTL3, IME4 P Methyltransferase-like 3 612472 R, REc
14.25 3 7 05 14q11-q12 NRL, D14S46E, RP27 C Neural retina leucine zipper 162080 REa, A, Fd Retinitis pigmentosa 27, 613750 (3); Retinal degeneration, autosomal recessive, clumped pigment type (3) 14(Nrl)
14.26 1 14 03 14q11.2 RAB2B P Ras-associated protein RAB2B 607466 REc
14.27 9 8 14 14q11.2 SALL2, HSAL2, COLB P Sal-like 2 602219 A mutation identified in 1 COLB family ?Coloboma, ocular, autosomal recessive, 216820 (3)
14.28 4 30 12 14q11.2 ACIN1, KIAA0670 P Acinus 604562 R, REc
14.29 5 16 95 14q12 ADCY4 C Adenylate cyclase-4 600292 REa 14(Adcy4)
14.30 12 18 08 14q11.2 ANG, RNASE5, ALS9 C Angiogenin 105850 A, REa, Fd, REn proximal to TCRA/TCRD Amyotrophic lateral sclerosis 9, 611895 (3) 14(Ang)
14.31 5 27 05 14q11.2 CEBPE, CRP1 P CCAAT/enhancer-binding protein (C/EBP), epsilon 600749 H, A Specific granule deficiency, 245480 (3) 14(Cebpe)
14.32 1 24 13 14q11.2 CHD8, DUPLIN, KIAA1564, AUTS18 P Chromodomain helicase DNA-binding protein 8 610528 R, REc {Autism, susceptibility to, 18}, 615032 (3)
14.33 1 21 00 14q12 CMA1 P Chymase-1, mast cell 118938 REa, REn
14.34 12 5 11 14q11.2 CMTM5, CKLFSF5 P CKLF-like marvel transmembrane domain-containing 5 607888 REc 14(Cklfsf5)
14.35 2 28 01 14q11.2 CPNE6 C Copine VI 605688 R, REc
14.36 4 25 93 14q12 CTSG C Cathepsin G 116830 A, REn
14.37 3 29 10 14q12 DCAF11, WDR23 P DDB1- and CUL4-associated factor 11 613317 REc
14.38 5 6 13 14q11.2 DHRS2, HEP27 P Short-chain dehydrogenase/reductase family, member 2 615194 A, REc
14.39 2 23 08 14q11.2 DHRS4, NRDR P Short-chain dehydrogenase/reductase family, member 4 611596 REc
14.40 4 27 16 14q11.2 DHRS4AS1, AS1DHRS4, C14orf67 P DDHRS4 antisense RNA 1, noncoding 616925 REc
14.41 5 6 13 14q11.2 DHRS4L1 P Short-chain dehydrogenase/reductase family, member 4-like 1 615195 REc
14.42 5 6 13 14q11.2 DHRS4L2 P Short-chain dehydrogenase/reductase family, member 4-like 2 615196 REc
14.43 4 12 18 14q11.2 EDDM3A, FAM12A, HE3A P Epididymal protein 3A 611580 R, REc
14.44 12 7 07 14q11.2 FAM12B, HE3B P Family with sequence similarity 12, member B 611582 REc
14.45 8 21 98 14q12 GZMB, CTLA1, CSPB C Granzyme B (cytotoxic T-lymphocyte-associated serine esterase-1; cathepsin G-like 1) 123910 A, REa, RE 14(Ctla1)
14.46 8 20 98 14q12 GZMH, CTSGL2 C Granzyme H (cathepsin G-like 2) 116831 A, REn
14.47 9 7 10 14q11.2 HAUS4, C14orf94 P HAUS augmin-like complex, subunit 4 613431 REc
14.48 6 1 12 14q11.2 HNRNPC, HNRPC P Heterogeneous nuclear ribonucleoprotein C 164020 R, REc
14.49 11 11 14 14q11.2 HOMEZ, KIAA1443 P Homeodomain leucine zipper-containing factor 608119 REc, H 14(Homez)
14.50 2 2 07 14q11.2 IL25, IL17E P Interleukin 25 605658 REc
14.51 6 22 99 14q12 ISGF3, ISGF3G P Interferon-stimulated gene transcription factor 3, gamma, 48kD 147574 RE
14.52 3 1 06 14q11.2 LRP10, LRP9 P Low density lipoprotein receptor-related protein 10 609921 R, H 14(Lrp10)
14.53 7 18 12 14q11.2 LRRC16B P Leucine-rich repeat-containing protein 16B 614716 REc
14.54 11 24 14 14q11.2 METTL17, METT11D1 P Methyltransferase-like 17 616091 REc
14.55 11 24 14 14q11.2 MHRT P Myosin heavy chain-associated RNA transcript, noncoding 616096 REc, H 14(Mhrt)
14.56 1 27 11 14q11.2 MIR208B, MIRN208B P Micro RNA 208B 613613 REc 14(Mir208b)
14.57 3 5 08 14q11.2 MRPL52 P Mitochondrial ribosomal protein L52 611856 R, REc
14.58 9 19 00 14q11.2 NDRG2 P N-myc downstream-regulated gene 2 605272 R
14.59 2 20 07 14q11.2 NGDN, NGD P Neuroguidin 610777 R, REc
14.60 7 13 09 14q11.2 NRCLP5 P Narcolepsy 5 612851 Fd associated with rs1154155, rs12587781, rs1263646 {Narcolepsy 5} (2)
14.61 2 15 96 14q11.2 OXA1L P Oxidase (cytochrome c) assembly 1-like 601066 A
14.62 4 19 06 14q11.2 PARP2, ADPRTL2, ADPRT2 C Poly(ADP-ribose) polymerase 2 607725 R, A 14(Adprtl2)
14.63 6 19 98 14q11.2 PSMB5, LMPX P Proteasome subunit, beta type, 5 600306 REn
14.64 9 10 07 14q11.2 PSMB11 P Proteasome subunit, beta-type, 11 611137 REc
14.65 6 19 98 14q12 PSME1, IFI5111 P Proteasome activator subunit-1 600654 A
14.66 6 19 98 14q12 PSME2 P Proteasome activator subunit-2 602161 A
14.67 3 2 98 14q12 RABGGTA P Rab geranylgeranyltransferase, alpha subunit 601905 REa, A
14.68 6 2 16 14q11.2 REM2 P RRAD- and GEM-like GTPase 2 616955 REc
14.69 8 27 01 14q12 RIPK3, RIP3 P Receptor-interacting serine/threonine kinase 3 605817 A
14.70 12 18 08 14q11.2 RNASE1, RNS1 P Ribonuclease, RNase A family, 1 (pancreatic) 180440 H, REn 14(Rib1)
14.71 12 18 08 14q11.2 RNASE2, RNS2, EDN C Ribonuclease, RNase A family, 2, liver (eosinophil-derived neurotoxin) 131410 REa, A, REn
14.72 12 18 08 14q11.2 RNASE3, RNS3, ECP C Ribonuclease, RNase A family, 3 (eosinophil cationic protein) 131398 REa, A, REn
14.73 12 18 08 14q11.2 RNASE4, RNS4 C Ribonuclease, RNase A family, 4 601030 Psh, REn
14.74 12 18 08 14q11.2 RNASE6 C Ribonuclease, RNase A family, k6 601981 Psh, REn
14.75 12 24 08 14q11.2 RNASE7 P Ribonuclease A family 7 612484 REc
14.76 12 18 08 14q11.2 RNASE8 P Ribonuclease A family, 8 612485 REn
14.77 9 8 11 14q11.2 RNAE9 P Ribonuclease A family, 9 614014 REc
14.78 12 24 08 14q12 RNF31, ZIBRA P Ring finger protein 31 612487 REc
14.79 9 23 13 14q11.2 RPPH1, H1RNA P Ribonuclease P, RNA component H1 608513 REc
14.80 12 8 00 14q11.2 RSCIS P Radiation sensitivity/chromosome instability syndrome, autosomal dominant 605463 Ch Radiation sensitivity/chromosome instability syndrome, autosomal dominant (1)
14.81 3 10 99 14q11.2 SLC7A7, LPI C Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 603593 A, Fd, LD Lysinuric protein intolerance, 222700 (3)
14.82 10 22 99 14q11.2 SLC7A8, LAT2 P Solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 604235 R
14.83 10 13 09 14q11.2 SLC22A17, NGALR, BOIT, BOCT, NGALR2, NGALR3 P Solute carrier family 22, organic cation transporter, member 17 611461 R, REc
14.84 2 26 03 14q13.3 SLC25A21, ODC C Solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 607571 A
14.85 7 31 08 14q11.2 SLC39A2, ZIP2 P Solute carrier family 39 (zinc transporter), member 2 612166 R, REc
14.86 4 25 06 14q11.2 SOLO, FLJ10357 P SOLO gene 610018 REc
14.87 2 25 15 14q11.2 SUPT16H, SPT16 P Suppressor of ty 16, S. cerevisiae, homolog of 605012 REc
14.88 10 15 13 14q11.2 TRAC, TRCA, TRA, IMD7 C T-cell receptor alpha 186880 H, REa, A, REn cen--V-C--ter Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3) 14(Tcra)
14.89 10 15 13 14q11.2 TRDC C T-cell receptor delta chain constant region 186810 RE, Ch, REc in midst of TCRA 14(Tcrd)
14.90 10 15 13 14q11.2 TRDD@ P T-cell receptor delta chain diversity gene cluster 615460 REc
14.91 10 15 13 14q11.2 TRDV@ P T-cell receptor delta chain variable gene cluster 615459 REc
14.92 10 15 13 14q11.2 TRDJ@ P T-cell receptor delta chain joining gene cluster 615461 REc
14.93 5 28 98 14q11.2 TEP1, TP1 P Telomerase-associated protein-1 601686 A, H 14(Tep1)
14.94 1 18 13 14q12 TGM1, ICR2, ARCI1 C Transglutaminase-1 (K polypeptide epidermal type I, protein-glutamine gamma-glutamyltransferase) 190195 REa, A, Fd Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
14.95 2 18 08 14q11.2 THTPA P Thiamine triphosphatase 611612 REc
14.96 6 8 11 14q11.2 TOX4, LCP1, KIAA0737 C TOX high mobility group box family member 4 614032 R, REc
14.97 6 2 16 14q11.2 TPPP2, p18 C Tubulin polymerization-promoting protein family, member 2 616956 REc
14.98 10 15 13 14q11.2 TRAJ@ C T-cell receptor alpha chain joining gene cluster 615443 REc, Ch
14.99 10 15 13 14q11.2 TRAV@ C T-cell receptor alpha chain variable gene cluster 615442 REn, Ch
14.100 1 22 07 14q12 TSSK4, TSSK5 P Testis-specific serine/threonine kinase 4 610711 REc
14.101 1 16 18 14q11.2 ZFHX2, ZFH5, ZNF409, KIAA1056, KIAA1762, MARSIS P Zinc finger homeobox 2 617828 REc mutation identified in 1 MARSIS family ?Marsili syndrome, 147430 (3)
14.102 3 3 98 14q11.2 BCL2L2, BCLW P BCL2-like 2 601931 A
14.103 3 16 06 14q11.2-q12 DFNA53 P Deafness, autosomal dominant 53 609965 Fd max lod at D14S1280 Deafness, autosomal dominant 53 (2)
14.104 3 16 06 14q11.2 EFS P Embryonal FYN-associated substrate 609906 A
14.105 10 15 98 14q12 LTB4R, CMKRL1, P2RY7, BLTR P Leukotriene b4 receptor (purinergic receptor P2Y, G protein-coupled, 7; chemokine receptor-like 1) 601531 A
14.106 8 27 01 14q12 LTB4R2, BLTR2, BLT2 P Leukotriene B4 receptor 2 605773 REc
14.107 12 20 11 14q11.2-q12 MRT9, MRT26 P Mental retardation, autosomal recessive, 9/26 611095 Fd between rs1998463 and rs243286 Mental retardation, autosomal recessive, 9/26 (2)
14.108 5 24 13 14q11.2-q12 PAURT1 P Preauricular tag, isolated, autosomal dominant, 1 610420 Fd between D14S990 and D14S264 Preauricular tag, isolated, autosomal dominant, 1 (2)
14.109 7 11 11 14q11-q12 PCK2, PEPCK2 P Phosphoenolpyruvate carboxykinase 2, mitochondrial 614095 A PEPCK deficiency, mitochondrial, 261650 (1)
14.110 10 31 17 14q11.2 OSGEP, FLJ20411, GAMOS3 P O-sialoglycoprotein endopeptidase 610107 REc Galloway-Mowat syndrome 3, 617729 (3)
14.111 10 29 03 14q12 REC8L1, REC8 P Rec8, S. pombe, homolog of 608193 A
14.112 1 30 12 14q11.2-q13 HHPP P Hyperhidrosis palmaris et plantaris 144110 Fd between D14S283 and D14S264 Hyperhidrosis palmaris et plantaris (2)
14.113 11 16 05 14q11.2 PABPN1, PABP2, PAB2 C Poly(A)-binding protein, nuclear 1 602279 REc, Fd Oculopharyngeal muscular dystrophy, 164300 (3)
14.114 7 19 06 14q11.2-q12 SPD3 P Synpolydactyly 3 610234 Fd max lod at D14S264 Synpolydactyly 3 (2)
14.115 4 27 12 14q12 AP4S1, CPSQ6, SPG52 P Adaptor-related protein complex 4, sigma-1 subunit 607243 R, REc Spastic paraplegia 52, autosomal recessive, 614067 (3)
14.116 6 24 94 14q11.2 APEX, APE C APEX nuclease (multifunctional DNA repair enzyme) 107748 Psh, A 14(Apex)
14.117 3 14 07 14q12 ARHGAP5, RHOGAP5 P RHO GTPase-activating protein 5 602680 R, REc
14.118 9 9 09 14q12 CBLN3 P Precerebellin 3 612978 REc 14(Cbln3)
14.119 8 2 13 14q13.1 CFL2, NEM7 C Cofilin 2, muscle 601443 Psh, REc Nemaline myopathy 7, autosomal recessive, 610687 (3)
14.120 3 29 07 14q12 CHMP4A, SNF7 P CHMP family, member 4A 610051 R, REc
14.121 12 3 96 14q12 DFNB5 P Deafness, autosomal recessive 5 600792 Fd Deafness, autosomal recessive 5 (2)
14.122 2 16 18 14q12 FITM1, FIT1 P Fat storage-inducing transmembrane protein 1 612028 R, REc
14.123 5 24 13 14q12 G2E3, KIAA1333 P G2/M phase-specific E3 ubiquitin ligase 611299 REc
14.124 2 25 14 14q12 GPR33 P G protein-coupled receptor 33 610118 REc, A
14.125 1 27 11 14q11.2 MIR208A, MIRN208A, MIR208, MIRN208 P Micro RNA 208A 611116 REc
14.126 7 22 11 14q11.2 MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3 C Myosin, heavy polypeptide-6, cardiac muscle, alpha 160710 REa, RE, D, A, Fd Cardiomyopathy, hypertrophic, 14, 613251 (3); Atrial septal defect 3, 614089 (3); Cardiomyopathy, dilated, 1EE, 613252 (3); {Sick sinus syndrome 3}, 614090 (3) 14(Myhca)
14.127 6 9 15 14q11.2 MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD C Myosin, heavy polypeptide-7, cardiac muscle, beta 160760 REa, RE, D, A 5'-B-4.5kb-A-3' Cardiomyopathy, hypertrophic, 1, 192600 (3); Cardiomyopathy, dilated, 1S, 613426 (3); Myopathy, myosin storage, autosomal dominant, 608358 (3); Laing distal myopathy, 160500 (3); Scapuloperoneal syndrome, myopathic type, 181430 (3); Left ventricular noncompaction 5, 613426 (3); Myopathy, myosin storage, autosomal recessive, 255160 (3)
14.128 6 13 12 14q12 NEDD8 P Neural precursor cel expressed, developmentally downregulated 8 603171 REc
14.129 1 27 11 14q12 NUBPL, IND1 P Nucleotide-binding protein-like protein 613621 REc Mitochondrial complex I deficiency, 252010 (3)
14.130 2 24 17 14q12 PRKD1, PRKCM, PKD, CHDED C Protein kinase D1 605435 REa, R, REc Congenital heart defects and ectodermal dysplasia, 617364 (3)
14.131 12 30 14 14q12 SDR39U1 P Short-chain dehydrogenase/reductase family 39U, member 1 616162 REc
14.132 8 21 12 14q12 STRN3, SG2NA P Striatin, calmodulin-binding protein 3 614766 REc, A
14.133 11 18 11 14q12 STXBP6, AMISYN, HSPC156 P Syntaxin-binding protein 6 607958 R, REc
14.134 12 24 11 14q12 TINF2, TIN2, DKCA3 P TRF1-interacting nuclear factor 2 604319 REc Dyskeratosis congenita, autosomal dominant 3, 613990 (3); Revesz syndrome, 268130 (3)
14.135 5 29 13 1p34.3 ZMYM6, ZNF258 P Zinc finger, MYM-type 6 613567 A
14.136 2 28 01 14q13.1-q13.2 BAZ1A P Bromodomain adjacent to zinc finger domain, 1A 605680 REa, R
14.137 2 5 09 14q12 COCH, DFNA9 C Cochlin 603196 Fd, A Deafness, autosomal dominant 9, 601369 (3) 12(Coch5B2)
14.138 2 11 08 14q13.3 NKX2-8, NKX2H, NKX2.8 P NK2 homeobox 8 603245 REn, H 12(Nkx2-9)
14.139 4 24 09 14q13.3 PAX9, STHAG3 P Paired box gene 9 167416 REa, A Tooth agenesis, selective, 3, 604625 (3)
14.140 4 27 12 14q12-q21 SPG32 P Spastic paraplegia-32 611252 Fd between D14S264 and D14S978 Spastic paraplegia 32, autosomal recessive (2)
14.141 10 27 97 14q12-q22 ARVD3 P Arrhythmogenic right ventricular dysplasia 3 602086 Fd ?distinct from ARVD1 Arrhythmogenic right ventricular dysplasia 3 (2)
14.142 1 2 03 14q21.1 FOXA1, HNF3A C Forkhead box A1 (hepatocyte nuclear factor-3, alpha) 602294 A, D 12(Hnf3a)
14.143 7 22 11 14q12 FOXG1, FOXG1B, FKHL1, FKH2, QIN, BF1 C Forkhead box G1B 164874 REa, A Rett syndrome, congenital variant, 613454 (3)
14.144 3 1 07 14q13 HPE8 P Holoprosencephaly 8 609408 Fd between D14S49 and D14S1014 Holoprosencephaly 8 (2)
14.145 3 14 06 14q13.2 KIAA0391 P KIAA0391 gene 609947 R, REc
14.146 11 6 14 14q13.3-q21.1 MIPOL1 P MIPOL1 gene 606850 Ch
14.147 7 10 08 14q13.2 NFKBIA, IKBA C Nuclear factor of kappa light chain gene enhancer in B-cells inhibitor, alpha 164008 A Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132 (3) 12(ikba)
14.148 9 1 15 14q13.3 NKX2-1, TITF1, NKX2A, TTF1, NMTC1 P NK2 homeobox 1 600635 A {Thyroid cancer, nonmedullary, 1}, 188550 (3); Chorea, hereditary benign, 118700 (3); Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3)
14.149 9 8 17 14q12 NOVA1 P NOVA alternative splicing regulator 1 602157 H, REc 12(Nova1)
14.150 3 24 06 14q13.1 NPAS3, MOP6 P Neuronal PAS domain protein 3 609430 REc, H 12(Npas3)
14.151 11 2 11 14q13.2 PSMA6, PROS27, P27K P Proteasome subunit, alpha-type, 6 602855 A {Myocardial infarction, susceptibility to}, 608446 (3)
14.152 4 25 93 14q21.1 SSTR1 C Somatostatin receptor-1 182451 REa 12(Sstr1)
14.153 5 23 00 14q21.3 POLE2, DPE2 P Polymerase, DNA, epsilon-2 602670 REa, A
14.154 8 25 04 14q13-q21 RLS2 C Restless legs syndrome, susceptibility to, 2 608831 Fd max lod at D14S288 {Restless legs syndrome 2} (2)
14.155 9 11 02 14q22.1 WW45, SAV P WW domain-containing protein, 45kD 607203 R
14.156 4 27 12 14q13.1 EGLN3, PHD3, HIFP4H3 P Egl9, C. elegans, homolog of, 3 606426 REc
14.157 12 17 09 14q11.2 PNP, NP C Purine nucleoside phosphorylase 164050 S, D centromeric to TCRA Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3) 14(Np1,2)
14.158 12 10 12 14q13.1 SNX6 C Sorting nexin 6 606098 R, REc
14.159 9 8 11 14q13.2 INSM2, IA6 P Insulinoma-associated 2 614027 REc
14.160 9 10 12 14q13.1 SPTSSA, C14orf147, SSSPTA P Serine palmitoyltransferase, small subunit, A 613540 REc
14.161 8 19 14 14q13.2 PPP2RC2, G5PR P Protein phosphatase 2, regulatory subunit B-double prime, gamma 615902 REc
14.162 7 9 06 14q13.2 SRP54 P Signal recognition particle, 54kD 604857 R
14.163 6 22 10 14q13.2 RALGAPA1, GARNL1, TULIP1, GRIPE, KIAA0884 C Ral GTPase activating protein, alpha subunit 1 (catalytic) 608884 Psh, A pseudogene on 9q31.1 12(Garnl1)
14.164 2 4 09 14q21.1 FBXO33, FBX33, BMND12 C F-box only protein 33 609103 REc 12(Fbxo33)
14.165 6 30 05 14q13.3 MBIP P MAP3K12-binding inhibitory protein 609431 R, REc
14.166 9 14 12 14q13.3 PTCSC3 P PTCSC3 gene 614821 REc
14.167 1 3 18 14q13.3 SFTA3, SPH P Surfactant-associated protein 3 617860 REc
14.168 2 1 11 14q13.3-q21.1 HPV6AI1 P Human papillomavirus type 6A integration site 1 604461 REc previously assigned to 10q24
14.169 5 28 02 14q22.1 GNG2 P Guanine nucleotide-binding protein, gamma-2 606981 Psh, A 14(Gng2)
14.170 9 10 07 14q21.3 MDGA2 P MAM domain-containing glycosylphosphatidylinositol anchor 2 611128 REc, H 12(Mdga2)
14.171 4 16 10 14q21.3 MGAT2, CDGS2, CDG2A P Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyl- transferase 602616 A Congenital disorder of glycosylation, type IIa, 212066 (3)
14.172 9 2 12 14q22.3 PELI2 P Pellino, Drosophila, homolog of, 2 614798 REc
14.173 9 24 15 14q21.3 SOS2, NS9 P Son of sevenless, Drosophila, homolog of, 2 601247 A Noonan syndrome 9, 616559 (3) 12(Sos2)
14.174 12 4 02 14q23.1 TIMM9, TIM9 C Translocase of inner mitochondrial membrane 9, yeast, homolog of 607384 REc, A, R
14.175 10 15 97 14q22.3 LGALS3, MAC2, GALBP P Lectin, galactose-binding, soluble, 3 153619 A assigned earlier to 1p13
14.176 9 4 98 14q23.1 RTN1, NSP P Reticulon 1 (neuroendocrine-specific protein) 600865 A
14.177 6 15 99 14q23.2 HIF1A, MOP1 P Hypoxia-inducible factor 1, alpha subunit 603348 A, 12(Hif1a)
14.178 12 27 01 14q22.1 TRIM9, SPRING, KIAA0282 P Tripartite motif-containing protein 9 606555 R
14.179 3 3 16 14q21.1 CLEC14A P C-type lectin domain family 14, member A 616845 REc
14.180 9 30 15 14q21.1 GEMIN2, SIP1 P GEM-associated protein 2 602595 A
14.181 11 1 06 14q21.1 SEC23A, CLSD C Sec23, S. cerevisiae, homolog of, A 610511 R, Fd Craniolenticulosutural dysplasia, 607812 (3)
14.182 2 16 18 14q21.1 TRAPPC6B, TPC6, NEDMEBA P Trafficking protein particle complex, subunit 6B 610397 REc, R Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862 (3) 12(Trappc6b)
14.183 3 10 11 14q21.2 FKBP3, FKBP25 P FK506-binding protein 3 186947 REc
14.184 7 15 09 14q21.1 LRFN5, SALM5 P Leucine-rich repeat and fibronectin type III domain-containing protein 5 612811 REc, H 12(Lrfn5)
14.185 12 10 12 14q21.2 PRPF39 P Precursor mRNA-processing factor 39, S. cerevisiae, homolog of 614907 REc
14.186 8 11 17 14q21.2 TOGARAM1, FAM179B, KIAA0423 P TOG array regulator of axonemal microtubules 1 617618 REc
14.187 3 3 03 14q21.2-q22.3 MGR4, MGOA P Migraine without aura, susceptibility to, 4 607501 Fd between D14S976 and D14S978 {Migraine without aura, susceptibility to, 4} (2)
14.188 9 16 12 14q21.3 ARF6 P ADP-ribosylation factor 6 600464 REc
14.189 5 25 13 14q21.3 CDKL1, KKIALRE, p42 P Cyclin-dependent kinase-like 1 603441 REc
14.190 9 7 12 14q12 DHRS1 P Short-chain dehydrogenase/reductase family, member 1 610410 REc
14.191 6 22 15 14q21.2 FANCM, KIAA1596 P FANCM gene 609644 REc
14.192 2 11 08 14q21.2 FSCB, C14orf155 P Fibrous sheath cabyr-binding protein 611779 REc 12(Fscb)
14.193 5 26 13 14q21.3 KLHDC1 P KELCH domain-containing protein 1 611281 REc
14.194 5 26 13 14q21.3 KLHDC2, HCLP1 P KELCH domain-containing protein 2 611280 REc
14.195 1 7 09 14q21.3 KTU, C14orf104, CILD10 P Kintoun, Medaka, homolog of 612517 REc Ciliary dyskinesia, primary, 10, 612518 (3)
14.196 1 10 18 14q21.3 VCPKMT, METTL21D, C14orf138 P Valosin-containing protein lysine methyltransferase 615260 REc
14.197 12 22 16 14q21.3 NEMF, SDCCAG1 P Nuclear export mediator factor 608378 A
14.198 9 14 95 14q22.2 CDKN3 P Cyclin-dependent kinase inhibitor 3 (CDK2-associated dual specificity phosphatase) 123832 A
14.199 4 1 96 14q22.3 KTN1, CG1 C Kinectin 600381 REa, A
14.200 8 21 07 14q22.1 PTGER2 C Prostaglandin E receptor 2, EP2 subtype, 53kD 176804 A {Asthma, aspirin-induced, susceptibility to}, 208550 (3) 15(Ptgerep2)
14.201 7 22 13 14q22-q23 CTRCT32, CTAA1, CAP, CTPP5 P Cataract 32, multiple types 115650 Ch, Fd between D14S980 and D14S1069 Cataract 32, multiple types (2)
14.202 3 8 07 14q23.1 PRKCH, PKCL, PRKCL C Protein kinase C, eta 605437 A, REc {Cerebral infarction, susceptibility to}, 601367 (3)
14.203 4 29 17 14q24.2 ZFYVE1, ZNFN2A1, DFCP1, TAFF1 P Zinc finger FYVE type-containing protein 1 605471 REc
14.204 12 19 01 14q24.1 ZFP36L1, BRF1, ERF1 P Zinc finger protein 36, C3H type-like 1 (butyrate response factor 1; EGF-response factor 1) 601064 A
14.205 3 20 07 14q22.1 C14orf166, CGI99 P Chromosome 14 open reading frame 166 610858 R, REc
14.206 1 29 13 14q22.1 DDHD1, PAPLA1, KIAA1705, SPG28 C DDHD domain-containing protein 1 614603 REc, Fd Spastic paraplegia 28, autosomal recessive, 609340 (3)
14.207 10 7 13 14q22.1 ERO1L, ERO1LA P Endoplasmic reticulum oxidoreduction 1-like 615435 A, H, REc 14(Ero1l)
14.208 4 30 09 14q22.2 GCRRF1, CGR19 P Cell growth regulator with ring finger domain 1 606138 R, REc
14.209 8 26 15 14q22.1 GNPNAT1, GNA1 P Glucosamine-phosphate N-acetyltransferase 1 616510 REc
14.210 3 31 08 14q22.1 FERMT2, PLEKHC1, MIG2, UNC112, KIND2 C Fermitin family, Drosophila, homolog of, 2 607746 R, REc
14.211 4 2 12 14q22.1 FRMD6, WILLIN, C14orf31 P FERM domain-containing protein 6 614555 REc
14.212 10 7 05 14q21.3 L2HGDH, C14orf160, L2HGA C L-2-hydroxyglutarate dehydrogenase 609584 REc L-2-hydroxyglutaric aciduria, 236792 (3)
14.213 5 1 16 14q22.1 NIN, KIAA1565, SCKL7 P Ninein 608684 REc mutation identified in 1 SCKL7 family ?Seckel syndrome 7, 614851 (3)
14.214 8 27 08 14q21.3 RN7SL1, 7SL, 7L1A P RNA, 7SL, cytoplasmic 1 612177 REc
14.215 8 27 08 14q21.3 RN7SL2, 7L1C P RNA, 7SL, cytoplasmic 2 612179 REc
14.216 8 27 08 14q21.3 RN7SL3 P RNA, 7SL, cytoplasmic 3 612180 REc
14.217 2 1 11 14q22.1 PSMC6 P Proteasome 26S subunit, ATPase, 6 602708 REc previously assigned to 12q15 by FISH
14.218 12 9 04 14q22.1 PTGDR, AS1, ASRT1 C Prostaglandin D2 receptor 604687 Fd, REc {Asthma, susceptibility to, 1}, 607277 (3)
14.219 6 23 98 14q22.1 PYGL C Phosphorylase, glycogen, liver 613741 REb, Fd, REc Glycogen storage disease VI, 232700 (3) 12(Pygl)
14.220 7 16 09 14q23.2 SGPP1, SPPASE1 P Sphingosine-1-phosphate phosphatase 1 612826 REc
14.221 7 14 14 14q22.1 STYX P Serine/threonine/tyrosine-interacting protein 615814 REc
14.222 10 27 06 14q22.1 TXNDC1, TMX P Thioredoxin domain-containing 1 610527 REc
14.223 2 4 15 14q22.1 TXNDC16, KIAA1344 P Thioredoxin domain-containing protein 16 616179 REc
14.224 5 4 09 14q22.2 GCH1, DYT5, HPABH4B P GTP cyclohydrolase 1 600225 Psh, A Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3); Hyperphenylalaninemia, BH4-deficient, B, 233910 (3)
14.225 6 3 14 14q22.1-q22.3 FRIASS, DEL14q22, C14DELq22 P Frias syndrome 609640 Ch deletion spans 4.1 Mb on 14q22.1-q22.3 Frias syndrome (4)
14.226 3 7 11 14q22.1-q24.2 MYP18 P Myopia 18 255500 Fd between D14S984 and D14S999 Myopia 18 (2)
14.227 3 7 14 14q22.2 BMP4, BMP2B1, BMP2B, MCOPS6, OFC11 C Bone morphogenetic protein-4 112262 H, REa, A, Ch, REc Microphthalmia, syndromic 6, 607932 (3); Orofacial cleft 11, 600625 (3) 14(Bmp2b1)
14.228 5 25 13 14q22.2 CNIH, TGAM77 P Cornichon, Drosophila, homolog of 611287 REc
14.229 2 23 09 14q22.2 CRCS8 P Colorectal cancer, susceptibility to, 8 612589 Fd associated with rs4444235 {Colorectal cancer, susceptibility to, 8} (2)
14.230 9 9 08 14q22.3 FBXO34, FBX34 P F-box only protein 34 609104 REc 14(Fbxo34)
14.231 9 27 17 14q22.2 GMFB, GMF P Glia maturation factor, beta 601713 REc
14.232 2 7 07 14q22.2 SAMD4A, SMAUG1, KIAA1053 P Sterile alpha motif domain-containing 4A 610747 REc 14(Samd4a)
14.233 11 11 14 14q22.2-q22.3 WDHD1, AND1 P WD repeat and HMG-box DNA binding protein 1 608126 R, REc
14.234 9 18 12 14q22.3 AP5M1, MUDENG, MUD, C14orf108 P Adaptor-related protein complex 5, mu-1 subunit 614368 REc
14.235 8 27 15 14q22.3 ATG14, ATG14L, KIAA0831, BARKOR P Autophagy 14, S. cerevisiae, homolog of 613515 R, REc
14.236 5 1 17 14q23.1 DACT1, DPR1, DAPPER1, FRODO, TBS2 P Dapper, antagonist of beta-catenin, 1 607861 REc mutation identified in 1 TBS2 family ?Townes-Brocks syndrome 2, 617466 (3)
14.237 1 31 18 14q22.3 DLGAP5, DLG7, HURP, KIAA0008 C Discs large-associated protein 5 617859 Psh, REc
14.238 9 8 11 14q22.3 EXOC5, SEC10L1 P Exocyst complex component 5 604469 REc
14.239 11 23 16 14q22.3 MAP1IP1L, MISS P Mitogen-activated protein kinase 1-interacting protein 1-like protein 617226 REc
14.240 5 8 15 14q22.3 OTX2, MCOPS5, CPHD6 C Orthodenticle, Drosophila, homolog of, 2 600037 A, REa Microphthalmia, syndromic 5, 610125 (3); Pituitary hormone deficiency, combined, 6, 613986 (3); Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3)
14.241 4 30 15 14q22.3 SOCS4, SOCS7 P Suppressor of cytokine signaling 4 616337 REc
14.242 4 24 17 14q22.3 TMEM260, C14orf101, SHDRA P Transmembrane protein 260 617449 REc Structural heart defects and renal anomalies syndrome, 617478 (3)
14.243 7 10 08 14q23 ANIB8 P Aneurysm, intracranial berry, 8 612162 Fd associated with rs767603 Aneurysm, intracranial berry, 8 (2)
14.244 10 6 09 14q23 EIG2 P Epilepsy, idiopathic generalized, susceptibility to, 2 606972 Fd {Epilepsy, idiopathic generalized, susceptibility to, 2} (2)
14.245 3 30 99 14q23.3 FUT8 C Fucosyltransferase 8 602589 REc, A
14.246 8 14 11 14q23.3 MAX P MAX protein 154950 A interacts with MYC {Pheochromocytoma, susceptibility to}, 171300 (3) 12 (Myn)
14.247 6 15 99 14q23.1 MNAT1, MAT1 P Menage a trois 1 602659 A,
14.248 12 9 97 14q23.1 PSMA3 P Proteasome (prosome, macropain) subunit, alpha type, 3 176843 Fd
14.249 8 1 06 14q23.1 SIX1, BOS3, DFNA23 C Sine oculis homeo box, Drosophila, homolog of, 1 601205 REa, A Branchiootic syndrome 3, 608389 (3); Deafness, autosomal dominant 23, 605192 (3)
14.250 10 4 01 14q23.1 SIX4 P Sine oculis homeo box, Drosophila, homolog of, 4 606342 A
14.251 4 10 15 14q23.1 SIX6, ODRMD C Sine oculis homeo box, Drosophila, homolog of, 6 606326 A, R, D Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
14.252 11 20 13 14q23.2 SYNE2, NUANCE, KIAA1011, EDMD5 P Spectrin repeat-containing nuclear envelope protein 2 (nesprin 2) 608442 A Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
14.253 11 4 93 14q23.3 FNTB P Farnesyltransferase, CAAX box, beta 134636 REa, Psh, A related FNTBL1 on 9
14.254 1 4 12 14q23.3 ZBTB25, ZNF46, KUP P Zinc finger and BTB domain containing 25 194541 A
14.255 12 28 08 14q23.1 ARID4A, RBP1, RBBP1 P AT-rich interactive domain-containing protein 4A 180201 R, REc
14.256 1 26 17 14q23.1 C14orf39, SIX6OS1 P Chromosome 14 open reading frame 39 617307 REc
14.257 4 30 12 14q23.1 DAAM1, KIAA0666 P Dishevelled-associated activator of morphogenesis 1 606626 R, REc
14.258 7 16 09 14q23.1 DHRS7, RETSDR4 P Short-chain dehydrogenase/reductase family, member 7 612833 REc
14.259 2 25 15 14q23.1 GPR135 C G protein-coupled receptor 135 607970 R, REc 12(Gpr135)
14.260 5 23 13 14q23.1 JKAMP, C24orf100, JAMP P JNK1/MAPK8-associated membrane protein 611176 REc
14.261 9 21 15 14q23.1 KIAA0586, TALPID3, JBTS23, SRTD14 P KIAA0586 gene 610178 REc, R Joubert syndrome 23, 616490 (3); Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3)
14.262 9 10 12 14q23.1 L3HYPDH, C14orf149 P L-3-hydroxyproline dehydratase, trans 614811 REc
14.263 10 12 14 14q23.1 PPM1A, PP2CA P Protein phosphatase, magnesium/manganese-dependent, 1A 606108 REc
14.264 10 7 05 14q23.2 PPP2R5E P Protein phosphatase-2, regulatory subunit B (B56), epsilon isoform 601647 REc incorrectly assigned to 7p12-p11.2 by FISH
14.265 8 26 15 14q23.1 SLC38A6, SNAT6 P Solute carrier family 38 (amino acid transporter), member 6 616518 REc
14.266 5 2 07 14q23.2 SYT16, STREP14 P Synaptotagmin 16 610950 REc
14.267 8 20 07 14q23.1 TMEM30B, CDC50B P Transmembrane protein 30B 611029 REc
14.268 9 4 15 14q23.1 TRMT5, TRM5, KIAA1393, COXPD26 C tRNA methyltransferase 5, S. cerevisiae, homolog of 611023 R, REc Combined oxidative phosphorylation deficiency 26, 616539 (3)
14.269 9 27 17 14q23.2 GPHB5, GPB5 P Glycoprotein hormone, beta-5 609652 REc
14.270 3 30 12 14q23.2 HIF1AAS1 P HIF1A antisense RNA 1 614528 REc
14.271 3 30 12 14q23.2 HIF1AAS2 P HIF1A antisense RNA 2 614529 REc
14.272 4 30 12 14q23.2 KCNH5 P Potassium voltage-gated channel, subfamily H, member 5 605716 REc
14.273 4 30 12 14q23.2 RHOJ, ARHJ, TCL P Ras homolog gene family, member J 607653 REc
14.274 10 2 12 14q23.2 SNAPC1, SNAP43 P Small nuclear RNA-activating protein complex, polypeptide 1 600591 REc
14.275 2 28 06 14q23.2 TELM P Telomere length, mean leukocyte 609113 Fd suggestive QTL on 12, 10q, 3p [Telomere length, mean leukocyte] (2)
14.276 2 25 15 14q23.3 AKAP5, AKAP79 P A-kinase anchor protein 5 604688 REc
14.277 9 26 16 14q23.3 CHURC1, CHCH, C14orf52 P Churchill domain-containing 1 608577 REc
14.278 7 22 13 14q23.3 MPP5, PALS1 P Membrane protein, palmitoylated 5 606958 R, REc 12(Pals1)
14.279 7 17 14 14q23.3-q24.1 PLEK2 P Pleckstrin 2 608007 REc
14.280 12 1 14 14q24.1 RDH11, PSDR1, RALR1, RDJCSS C Retinol dehydrogenase 11 607849 R, REn mutation identified in 1 RDJCSS family ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3) 12(Rdh11)
14.281 9 23 04 14q24.1 RDH12, LCA13 C Retinol dehydrogenase 12 608830 Fd, REn near RDH11 Leber congenital amaurosis 13, 612712 (3)
14.282 11 18 15 14q23.3 SPTB, SPH2, EL3, HS2 C Spectrin, beta, erythrocytic 182870 REb, F, H, REa, A, RE Elliptocytosis-3 (3); Spherocytosis, type 2, 616649 (3); Anemia, neonatal hemolytic, fatal and near-fatal (3) 12(Sptb1)
14.283 9 28 15 14q23.3 ZBTB1 P Zinc finger- and BTB domain-containing protein 1 616578 REc 12(Zbtb1)
14.284 8 25 11 14q24.1 RAD51L1 P RAD51. S. cerevisiae, homolog of, like 1 602948 REc, A, R fused with HMGA2 in uterine leiomyoma
14.285 11 30 06 14q24.3 ALKBH1, ALKB P AlkB, E. coli, homolog of, 1 605345 A
14.286 12 6 16 14q23.3 ATP6V1D, ATP6M P ATPase, H+ transporting, lysosomal, 34-kD, V1 subunit D 609398 REc
14.287 12 17 08 14q24.3 BATF, BATF1, SFA2 P Basic leucine zipper transcription factor, ATF-like 612476 A
14.288 10 29 03 14q24.3 EIF2B2 P Eukaryotic translation initiation factor 2B, subunit 2 606454 R, Fd Leukoencephalopathy with vanishing white matter, 603896 (3); Ovarioleukodystrophy, 603896 (3)
14.289 9 28 00 14q24.3 ENTPD5, CD39L4 P Ectonucleoside triphosphate diphosphohydrolase 5 603162 R, 12(Cd39l4)
14.290 11 8 17 14q24.3 ERG28, C14orf1 P Ergosterol biosynthesis 28 homolog 604576 R
14.291 11 4 13 14q23.3-q24.1 GPHN, GPH, KIAA1385, GEPH, MOCODC C Gephyrin 603930 REc, Ch Molybdenum cofactor deficiency C, 615501 (3)
14.292 11 20 17 14q24.3 LTBP2, LTBP3, GLC3D, MSPKA, WMS3 P Latent transforming growth factor beta binding protein-2 602091 RE, A 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); ?Weill-Marchesani syndrome 3, recessive, 614819 (3)
14.293 11 21 17 14q23.3 MTHFD1, MTHFC, CIMAH C Methylenetetrahydrofolate dehydrogenase 1 172460 S, REa, A trifunctional protein {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3); Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)
14.294 9 28 00 14q24.3 NGB P Neuroglobin 605304 R
14.295 7 14 15 14q24.3 TGFB3, ARVD1, RNHF, LDS5 C Transforming growth factor, beta-3 190230 REa, A Arrhythmogenic right ventricular dysplasia 1, 107970 (3); Loeys-Dietz syndrome 5, 615582 (3) 12(Tgfb3)
14.296 5 10 04 14q24.3 ZADH1 P Zinc-binding alcohol dehydrogenase domain-containing protein 1 608642 REc
14.297 3 12 15 14q32.11 CALM1, PHKD, CPVT4, LQT14 C Calmodulin-1 (phosphorylase kinase, delta) 114180 REa, Psh, A Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3); Long QT syndrome 14, 616247 (3)
14.298 3 14 96 14q24.3 PGF, PLGF P Placental growth factor, vascular endothelial growth factor-related protein 601121 A 12(Plgf)
14.299 1 29 01 14q31.3 FLRT2 C Fibronectin-like domain-containing leucine-rich transmembrane protein-2 604807 R, REc
14.300 5 3 13 14q24.1 ACTN1, BDPLT15 P Actinin, alpha-1 102575 REa, A, REc Bleeding disorder, platelet-type, 15, 615193 (3) 12(Actn1)
14.301 6 6 00 14q24.2 ADAM20 P A disintegrin and metalloproteinase domain 20 603712 R
14.302 6 6 00 14q24.2 ADAM21 P A disintegrin and metalloproteinase domain 21 603713 R
14.303 6 29 07 14q24.1 ERH P Enhancer of rudimentary, Drosophila, homolog of 601191 REc possible pseudogene on 7q34
14.304 5 9 16 14q24.1 EXD2, EXDL2 P Exonuclease 3'-to-5' domain-containing protein 2 616940 REc
14.305 4 6 13 14q24.1 GALNT16, GALNACT16, GALNTL1, KIAA1130 C UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 615132 R, REc
14.306 4 9 96 14q23.3 GPX2 C Glutathione peroxidase-2, gastrointestinal 138319 REa, A
14.307 10 15 94 14q23.3 HSPA2 C Heat-shock 70kD protein-2 140560 REa, A 12(Hspa2)
14.308 10 4 02 14q24.1 SLC10A1, NTCP1 C Solute carrier family 10 (sodium/bile acid cotransporter family), member 1 182396 REa, REc 12(Slc10a1)
14.309 2 21 11 14q24.2 SMOC1, OAS P SPARC-related modular calcium-binding 1 608488 REc Microphthalmia with limb anomalies, 206920 (3)
14.310 1 15 16 14q24.1 SUSD6, DRAGO, KIAA0247 C SUSHI domain-containing protein 6 616761 R, REc
14.311 9 23 13 14q24.1 VTI1B, VTI1, VTI1L P Vti1, S. cerevisiae, homolog of, B 603207 REc
14.312 4 27 12 14q24.1 ZFYVE26, KIAA0321, SPG15 C Zinc finger FYVE domain-containing protein 26 612012 R, REc, Fd Spastic paraplegia 15, autosomal recessive, 270700 (3)
14.313 9 9 10 14q24.1 DCAF5, WDR22, BCRP2, D14S1461E P DDB1- and CUL4-associated factor 5 603812 REc
14.314 6 15 99 14q24.1 ARG2 P Arginase II 107830 A, R, Psh
14.315 11 21 02 14q32.11 KCNK13, THIK1 P Potassium channel, subfamily K, member 13 607367 REc
14.316 5 19 15 14q24.2 DCAF4, WDR21, WDR21A P DDB1- and CUL4-associated factor 4 616372 REc
14.317 11 27 17 14q24.2 PAPLN, PPN P Papilin, proteoglycan-like sulfated glycoprotein 617785 REc
14.318 8 31 17 14q24.2 PCNX1, KIAA0995 C Pecanex, Drosophila, homolog of, 1 617655 R, REc 12(Pcnx1)
14.319 12 22 08 14q24.2 RBM25, RED120 P RNA-binding motif protein 25 612427 REc
14.320 6 13 17 14q24.2 SIPA1L1, E6TP1, KIAA0440 C SIPA1-like protein 1 617504 REc
14.321 12 19 11 14q24.1 SRSF5, SFRS5, SRp40 P Splicing factor, serine/arginine-rich, 5 600914 R, REc
14.322 6 30 05 14q24.2 SYNJ2BP, OMP25, ARIP2 P Synaptojanin 2-binding protein 609411 R, REc
14.323 2 25 15 14q24.2 TTC9, KIAA0227 P Tetratricopeptide repeat domain-containing protein 9 610488 Psh, REc
14.324 10 17 12 14q24.3 ABCD4, PXMP1L, P79R, PMP69, MAHCJ C ATP-binding cassette, subfamily D, member 4 (peroxisomal membrane protein 1-like) 603214 Psh, A Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
14.325 10 25 11 14q24.3 ACOT1 P Acyl-CoA thioesterase 1 614313 REc 12(Acot1)
14.326 3 17 06 14q24.3 ACOT2, PTE2, MTE1 P Acyl-CoA thioesterase 2 609972 REc, R 12(Acot2)
14.327 10 28 11 14q24.3 ACOT4 P Acyl-CoA thioesterase 4 614314 REc ?pseudogene on 19q13.12 12(Acot4)
14.328 10 5 11 14q24.3 ACOT6 P Acyl-CoA thioesterase 6 614267 REc, H 12(Acot6)
14.329 5 25 00 14q24.3 ACYP1, ACYPE P Acylphosphatase, erythrocyte 600875 A, REa
14.330 8 8 13 14q24.3 AHSA1, AHA1 P Activator of heat-shock 90kD protein ATPase 1 608466 REc, R
14.331 8 3 11 14q24.3 ALDH6A1, MMSDH P Aldehyde dehydrogenase 6 family, member A1 (methylmalonate semialdehyde dehydrogenase) 603178 REc Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3)
14.332 9 9 13 14q24.3 AREL1, KIAA0317 P Apoptosis-resistant E3 ubiquitin protein ligase 1 615380 REc
14.333 2 16 18 14q24.3 RIOX1, C14orf169, NO66, MAPJD P Ribosomal oxygenase 1 611919 R, REc
14.334 7 17 06 14q24.3 CHX10, HOX10, MCOP2, MCOPCB3 C C. elegans ceh-10 homeo domain-containing homolog 142993 REa, A Microphthalmia with coloboma 3, 610092 (3); Microphthalmia, isolated 2, 610093 (3) 12(Hox10)
14.335 6 26 16 14q24.3 CIPC, KIAA1737 P Clock-interacting pacemaker 616995 REc
14.336 5 24 12 14q24.3 COQ6, CGI10, COQ10D6 P Coq6, S. cerevisiae, homolog of 614647 REc Coenzyme Q10 deficiency, primary, 6, 614650 (3)
14.337 11 9 05 14q31.1 DIO2, TXDI2, D2 P Deiodinase, iodothyronine, type II 601413 R, A
14.338 10 15 94 14q24.3 DLST C Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 126063 A
14.339 6 8 11 14q24.3 DNAL1, C14orf168, CILD16 P Dynein, axonemal, light chain 1 610062 REc Ciliary dyskinesia, primary, 16, 614017 (3) 12(Dnal1)
14.340 2 7 08 14q24.3 ESRRB, ESRL2, DFNB35 C Estrogen-related receptor beta 602167 A, Fd Deafness, autosomal recessive 35, 608565 (3) 12(Estrrb)
14.341 4 20 10 14q24.3 FLVCR2, C14orf58, CCT, PVHH, EPV P Feline leukemia virus subgroup C receptor 2 610865 REc Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3) 12(Flvcr2)
14.342 6 5 92 14q24.3 FOS C FBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS) 164810 REa, A 12(Fos)
14.343 10 14 09 14q24.3 GLC3C P Glaucoma 3, primary congenital, C 613085 Fd between D14S61 and D14S1000 Glaucoma 3, primary congenital, C (2)
14.344 7 26 17 14q24.3 GSTZ1, MAAI, MAAID P Glutathione S-transferase, zeta-1 (maleylacetoacetate isomerase) 603758 A, R [Maleylacetoacetate isomerase deficiency], 617596 (3)
14.345 2 9 18 14q24.3 IFT43, C14orf179, CED3, SRTD18, RP81 P Intraflagellar transport 43, Chlamydomonas, homolog of 614068 REc mutation identified in 1 CED3 family and 1 RP81 family ?Cranioectodermal dysplasia 3, 614099 (3); Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3); ?Retinitis pigmentosa 81, 617871 (3)
14.346 11 8 17 14q24.3 IRF2BPL, C14orf4, EAP1 P Interferon regulatory factor 2-binding protein like 611720 R, REc
14.347 5 19 15 14q24.3 ISCA2, MMDS4 P Iron-sulfur cluster assembly 2, S. cerevisiae, homolog of 615317 REc Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)
14.348 3 31 09 14q24.3 ISM2, THSD3, TAIL1 P Isthmin 2, zebrafish, homolog of 612684 REc
14.349 7 24 13 14q24.3 JDP2 P JUN dimerization protein 2 608657 REc
14.350 5 9 12 14q24.3 KTCN8 P Keratoconus 8 614628 Fd between rs1074501 and rs755212 Keratoconus 8 (2)
14.351 10 28 08 14q24.3 MUSTQTL1 P Muscle strength quantitative trait locus 1 612083 Fd Muscle strength quantitative trait locus 1 (2)
14.352 3 31 03 14q24.3 NPC2, HE1 C Epididymal secretory protein HE1 601015 REc, R Niemann-pick disease, type C2, 607625 (3)
14.353 6 22 14 14q24.3 MLH3, HNPCC7 C Mismatch repair gene MLH3 604395 A Colorectal cancer, somatic, 114500 (3); Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3); {Endometrial cancer, susceptibility to}, 608089 (3) 12(Mlh3)
14.354 7 11 16 14q24.3 NEK9, NERCC1, LCCS10, APUG, NC P Never in mitosis gene A-related kinase 9 609798 REc mutation identified in 1 APUG family Lethal congenital contracture syndrome 10, 617022 (3); ?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3); Nevus comedonicus, somatic, 617025 (3)
14.355 6 15 99 14q24.2-q24.3 NUMB, S171 P Numb, Drosophila, homolog of 603728 REn
14.356 3 7 14 14q24.3 PNMA1, MA1 P Paraneoplastic MA antigen 1 604010 REc
14.357 11 10 10 14q24.3 POMT2, MDDGA2, MDDGB2, MDDGC2 C Putative protein O-mannosyltransferase 2 607439 REc Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
14.358 3 14 13 14q24.3 PROX2 P Prospero-related homeobox 2 615094 REc, H 12(Prox2)
14.359 1 11 18 14q24.2 PSEN1, AD3, ACNINV3 C Presenilin 1 104311 Fd mutation identified in 1 ACNINV3 family Alzheimer disease, type 3, 607822 (3); Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3); Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3); Dementia, frontotemporal, 600274 (3); Pick disease, 172700 (3); Cardiomyopathy, dilated, 1U, 613694 (3); ?Acne inversa, familial, 3, 613737 (3)
14.360 8 18 99 14q24.2 RGS6 P Regulator of G protein signaling 6 603894 REa, R
14.361 6 13 12 14q24.3 SKIIP, SKIP, SNW1, BX42 P SKI-interacting protein 603055 REc
14.362 12 21 09 14q24.3 SLIRP, C14orf156 P SRA stem loop-interacting RNA-binding protein 610211 REc
14.363 11 19 11 14q24.3 SYNDIG1L, TMEM90A, CAPUCIN P Synapse differentiation-induced gene 1-like 609999 REc 12(Capucin)
14.364 7 15 14 14q24.3 TTLL5, STAMP, KIAA0998, CORD19 P Tubulin tyrosine ligase-like family, member 5 612268 REc Cone-rod dystrophy 19, 615860 (3)
14.365 5 23 06 14q24.3 TMED10, TMP21 P Transmembrane p24 trafficking protein 10 605406 Fd
14.366 3 14 13 14q24.3 VIPAS39, VIPAR, SPE39, C14orf133 P VPS33B-interacting protein, apical-basolateral polarity regulator, spe-39 homolog 613401 REc Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)
14.367 5 6 98 14q22.3 UBE2L1, UBCL, UBC4 P Ubiquitin-conjugating enzyme E2L 1 600012 Psh, A
14.368 5 19 09 14q31.3-q32.1 FOXN3, CHES1 P Forkhead box N3 602628 Fd
14.369 12 9 98 14q24.3-q31 IDDM11 P Insulin-dependent diabetes mellitus-11 601208 Fd {Diabetes mellitus, insulin-dependent, 11} (2)
14.370 12 17 95 14q24.2 MAP3K9, MLK1 P Mitogen-activated protein kinase kinase kinase 9 600136 REa, A
14.371 11 17 10 14q24.3 SPTLC2, KIAA0526, SPT2, LCB2, HSN1C, NSAN1C P Serine palmitoyltransferase, long-chain base subunit 2 605713 REc, R Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3) 12(Sptlc2)
14.372 11 5 08 14q24.2 DPF3, CERD4 P D4, zinc and double PHD fingers, family 3 601672 A
14.373 10 4 02 14q24.3-q31.1 NRXN3 C Neurexin 3 600567 REc
14.374 11 1 13 14q32.13 DICER1, HERNA, KIAA0928, MNG1, RMSE2 P Dicer, Drosophila, homolog of, 1 606241 REa, R Pleuropulmonary blastoma, 601200 (3); Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3); Rhabdomyosarcoma, embryonal, 2, 180295 (3)
14.375 5 1 02 14q31.3 GALC C Galactosylceramidase 606890 REa, A, H, Fd Krabbe disease, 245200 (3) 12(tw)
14.376 10 14 09 14q31 GRD1 P Graves disease, susceptibility to, 1 275000 Fd associated with rs2268458 {Graves disease, susceptibility to, 1} (2)
14.377 11 22 16 14q32.11 GPR68, OGR1, AI2A6 P G protein-coupled receptor 68 601404 Psh, A Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (3)
14.378 8 25 11 14q31 HPPD P Hypertelorism, preauricular sinus, punctal pits, and deafness 614187 Fd Hypertelorism, preauricular sinus, punctal pits, and deafness (2)
14.379 4 24 01 14q31.3 KCNK10, TREK2 P Potassium channel, subfamily K, member 10 605873 REc
14.380 2 18 98 14q31.1 SEL1L C Suppressor of lin 12 (sel-1), C. elegans, homolog of 602329 Psh, A, R
14.381 2 21 06 14q31.1 TSHR, CHNG1 C Thyroid-stimulating hormone receptor 603372 REa, Fd, A, R Hypothyroidism, congenital, nongoitrous, 1 275200 (3); Thyroid adenoma, hyperfunctioning, somatic (3); Hyperthyroidism, nonautoimmune, 609152 (3); Thyroid carcinoma with thyrotoxicosis (3); Hyperthyroidism, familial gestational, 603373 (3) 12(Tshr)
14.382 10 24 00 14q32.11 RPS6KA5, MSK1 P Ribosomal protein S6 kinase, 90kD, 5 603607 R
14.383 12 11 02 14q32.11 TDP1 C Tyrosyl-DNA phosphodiesterase 1 607198 REc, Fd Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3)
14.384 2 21 10 14q32.12 TRIP11, TRIP230, CEV14, ACG1A C Thyroid hormone receptor interactor 11 604505 REa, A Achondrogenesis, type IA, 200600 (3)
14.385 3 9 00 14q31.3 GPR65, TDAG8 P G protein-coupled receptor 65 604620 A
14.386 4 16 10 14q32.13 SERPINA4, KST, PI4 P Serpin peptidase inhibitor, clade A, member 4 147935 REa, A in cluster with related AAT, AACT, CBG, PCI
14.387 10 2 12 14q31.1 GTF2A1, TF2A1 P General transcription factor IIA, alpha/beta subunits 600520 REc
14.388 8 8 13 14q31.1 STON2, STN2, STNB P Stonin 2 608467 REc, R
14.389 6 19 12 14q31.3 PTPN21, PTPD1 P Protein-tyrosine phosphatase, nonreceptor-type, 21 603271 REc
14.390 1 3 13 14q31.3 SPATA7, HSD3, LCA3 C Spermatogenesis-associated protein 7 609868 REc Leber congenital amaurosis 3, 604232 (3); Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
14.391 9 22 16 14q31.3 ZC3H14, SUT2, MRT56 P Zinc finger CCCH domain-containing protein 14 613279 REc Mental retardation, autosomal recessive 56, 617125 (3)
14.392 2 21 03 14q32.32 AMN C Amnionless, mouse, homolog of 605799 REc, Fd Megaloblastic anemia-1, Norwegian type, 261100 (3) 12(Amn)
14.393 6 15 99 14q32.2 CCNK P Cyclin K 603544 A
14.394 12 4 03 14q32 CHDS4 P Coronary heart disease, susceptibility to, 4 608318 Fd highest LOD with D14S1426 {Coronary heart disease, susceptibility to, 4} (2)
14.395 12 24 89 14q32.12 CHGA C Chromogranin A, parathyroid secretory protein-1 118910 REa, A 12(Chga)
14.396 11 19 13 14q32.33 CKB, CKBB, BCK C Creatine kinase, brain type 123280 S, REa, Fd distal to PI and AACT; closely linked to AKT1 and IGH; proximal to IGH
14.397 10 23 87 14q32 CKBE P Creatine kinase, ectopic expression 123270 F linked to IGH, PI; ?same locus as CKBB [Creatine kinase, brain type, ectopic expression of] (2)
14.398 8 30 01 14q32.12 DDX24 P DEAD/H box 24 606181 R
14.399 5 25 00 14q32.31 DIO3, TXDI3 P Deiodinase, iodothyronine, type 3 601038 A 12(Dio3)
14.400 3 15 04 14q32.31 DIO3OS P Deiodinase, iodothyronine, type 3, opposite strand 608523 REc 12(Dio3os)
14.401 5 2 01 14q32.2 DLK1, PREF1, FA1 P Delta, Drosophila, homolog-like 1 176290 A
14.402 10 21 15 14q32 DUP14q32, C14DUPq32 P Chromosome 14q32 duplication syndrome, 700kB 616604 Ch heterozygous germline duplication of 700kb {Myeloproliferative neoplasms, familial, susceptibility to} (4)
14.403 10 28 14 14q32.31 DYNC1H1, DNCL, DNECL, CMT20, MRD13, SMALED1 C Dynein, cytoplasmic-1, heavy chain-1 600112 REa, H, REc, Fd Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3); Mental retardation, autosomal dominant 13, 614563 (3); Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3) 14(Dnecl)
14.404 9 22 16 14q32.2 EML1, EMAPL, EMAP, BH P Echinoderm microtubule associated protein like 1 602033 REn, REc Band heterotopia, 600348 (3)
14.405 9 7 04 14q32 GEVQ1 P Gene expression, variation in, quantitative trait locus on chromosome 14 608875 Fd {Gene expression, variation in, QTL} (2)
14.406 3 20 16 14q32.13 GLRX5, C14orf87, PRO1238, FLB4739, PRSA, SIDBA3, SPAHGC C Glutaredoxin 5 609588 REc, H Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3); Spasticity, childhood-onset, with hyperglycinemia, 616859 (3)
14.407 1 28 02 14q32 HFM P Hemifacial microsomia 164210 Fd Hemifacial microsomia (2)
14.408 12 17 95 14q32.12 IFI27 P Interferon, alpha-inducible protein-27 600009 A
14.409 2 4 02 14q32.33 JAG2 P Jagged 2 602570 A 12(Jag2)
14.410 1 4 16 14q32 KAOGS P Kagami-Ogata syndrome 608149 Ch uniparental isodisomy of imprinted region of chromosome 14 Kagami-Ogata syndrome (4)
14.411 7 25 06 14q32 MCOP1 P Microphthalmia, isolated 1 251600 Fd Microphthalmia, isolated 1 (2)
14.412 11 22 10 14q32.2-q32.3 MEG8 P Maternally expressed gene 8 613648 REc
14.413 11 22 10 14q32.31 MIR380, MIRN380 P Micro RNA 380 613654 REc, H 12(Mir380)
14.414 8 27 01 14q32.31 RAGE, MOK P Renal tumor antigen 605762 REc
14.415 3 6 14 14q32.13 SERPINA9, GCET1, CENTERIN P Serpin peptidase inhibitor, clade A, member 9 615677 REc
14.416 3 24 14 14q32.31 SNORD114-1 P Small nucleolar RNA, C/D box, 114-1 613651 REc
14.417 2 17 15 14q32 TEMPS P Temple syndrome (maternal uniparental disomy chromosome 14) 616222 Ch Temple syndrome (4)
14.418 4 10 14 14q32.2 TUNAR, TUNA, LINC00617 P TCL1 upstream neural differentiation-associated RNA 615719 REc
14.419 11 20 98 14q32.32 TNFAIP2 P Tumor necrosis factor, alpha-induced protein-2 603300 Psh, A
14.420 9 20 14 14q32.12 SLC24A4, NCKX4, SHEP6, AI2A5 C Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 609840 REc [Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3); [Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3); Amelogenesis imperfecta, type IIA5, 615887 (3)
14.421 2 22 13 14q32.2 SLC25A29, CACL, ORNT3 P Solute carrier family 25 (carnitine/acylcarnitine translocase), member 29 615064 REc
14.422 11 22 10 14q32.2 SNORD112 P Small nucleolar, C/D box, 112 613649 REc located in an intron of MEG8
14.423 11 22 10 14q32.31 SNORD113-1 P Small nucleolar RNA, C/D box, 113-1 613650 REc
14.424 11 3 09 14q32.2 VRK1, PCH1A P Vaccinia-related kinase-1 602168 R Pontocerebellar hypoplasia type 1A, 607596 (3)
14.425 12 6 16 14q32.2 BCL11B, CTIP2, IMD49 P C-cell CLL/lymphoma 11B 606558 REc mutation identified in 1 IMD49 patient ?Immunodeficiency 49, 617237 (3)
14.426 9 8 06 14q32.12 BTBD7, FUP1 P BTB/POX domain-containing protein 7 610386 R, REc
14.427 10 4 07 14q32.13 CBG, SERPINA6 C Corticosteroid-binding globulin 122500 A, REn Corticosteroid-binding globulin deficiency, 611489 (3)
14.428 3 5 03 14q32.2 CYP46A1, CYP46 P Cytochrome P450, family 46, subfamily A, polypeptide 1 (cholesterol 24-hydroxylase) 604087 A, R
14.429 12 22 15 14q32.12 FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD C Fibulin 5 604580 A Cutis laxa, autosomal recessive, type IA, 219100 (3); Cutis laxa, autosomal dominant 2, 614434 (3); Macular degeneration, age-related, 3, 608895 (3); Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
14.430 4 10 14 14q32.13 GSC, SAMS P Goosecoid 138890 REa, A Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3) 12(Gsc)
14.431 1 23 02 14q32.12 LGMN, PRSC1 P Legumain (protease, cysteine, 1) 602620 A
14.432 12 5 13 14q32.1 SERPINA2P, PIL, ATR, ARGS P Serpin peptidase inhibitor, clade A, member 2, pseudogene 107410 REn ?pseudogene
14.433 8 17 10 14q32.13 SERPINA1, PI, AAT C Alpha-1-antitrypsin (serpin peptidase inhibitor, clade A, member 1) 107400 F, S, A, D, EM, Fd Emphysema due to AAT deficiency, 613490 (3); Emphysema-cirrhosis, due to AAT deficiency, 613490 (3); Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3); {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1) 12(Aat)
14.434 1 8 00 14q32.13 SERPINA3, AACT, ACT C Alpha-1-antichymotrypsin 107280 REa, A, Fd, REn 220kb from PI Alpha-1-antichymotrypsin deficiency (3); Cerebrovascular disease, occlusive (3)
14.435 4 16 10 14q32.13 SERPNA5, PCI C Serpin peptidase inhibitor, clade A, member 5 (protein C inhibitor) 601841 Psh, REn
14.436 6 17 15 14q32.13 SERPINA10, ZPI P Serine (or cysteine) proteinase inhibitor, clade A, member 10 (protein Z-dependent protease inhibitor precursor) 605271 REc
14.437 5 3 17 14q32.13 SERPINA12, VASPIN P Serpin peptidase inhibitor, clade A, member 12 (vaspin) 617471 REc
14.438 12 21 98 14q32.13 TCL1A, TCL1 C T-cell lymphoma/leukemia 1A 186960 Ch, RE Leukemia/lymphoma, T-cell (2)
14.439 12 13 00 14q32.13 TCL1B, TML1 P T-cell lymphoma/leukemia 1B 603769 Psh Leukemia/lymphoma, T-cell (2)
14.440 9 9 08 14q32.13 TCL6, TNG1, TNG2 P T-cell leukemia/lymphoma 6 604412 REc
14.441 10 16 14 14q31.3 TTC8, BBS8, RP51 P Tetratricopeptide repeat domain 8 608132 REc mutation identified in 1 RP51 family Bardet-Biedl syndrome 8, 615985 (3); ?Retinitis pigmentosa 51, 613464 (3)
14.442 2 11 96 14q32.2 BDKRB1 P Bradykinin receptor B1 600337 A
14.443 2 11 96 14q32.2 BDKRB2 C Bradykinin receptor B2 113503 Psh, A
14.444 3 16 01 14q32.2 PAPOLA, PAP P Poly(A) polymerase 605553 A, R
14.445 10 12 14 14q32.11-q32.12 CCDC88C, HKRP2, DAPLE, KIAA1509, HYC, SCA40 P Coiled-coil domain-containing protein 88C 611204 REc, R mutation identified in 1 SCA40 family Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3); ?Spinocerebellar ataxia 40, 616053 (3)
14.446 2 1 11 14q32.11 PSMC1, S4 P Proteasome 26S subunit, ATPase, 1 602706 REc previously assigned to 19p13.3 by FISH 12(Psmc1)
14.447 4 30 12 14q32.12 ASB2 P Ankyrin repeat-containing SOCS box protein 2 605759 R, REc 12(Asb2)
14.448 2 7 14 14q32.12 ATXN3, MJD, SCA3 C Ataxin-3 (josephin) 607047 Fd, REc Machado-Joseph disease, 109150 (3)
14.449 3 28 11 14q32.12 CATSPERB, C14orf161 P Cation channel, sperm-associated, beta 611169 REc
14.450 3 10 16 14q32.12 COX8C P Cytochrome c oxidase, subunit 8c 616855 REc 12(Cox8c)
14.451 10 13 17 14q32.12 GON7, C14orf142 P Gon7, S. cerevisiae, homolog of 617436 REc
14.452 4 2 16 14q32.12 IFI27L2, FAM14A, ISG12B P Interferon alpha inducible protein 27 like 2 611319 REc
14.453 8 18 14 14q32.12 ITPK1, ITRPK1 P Inositol 1,3,4-trisphosphate 5/6-kinase 601838 REc
14.454 3 7 14 14q32.12 MOAP1, MAP1, PNMA4 P Modulator of apoptosis 1 609485 REc
14.455 5 25 13 14q32.12 NDUFB1 P NADH-ubiquinone oxidoreductase 1 beta subcomplex, 1 603837 REc
14.456 6 5 08 14q32.12 OTUB2, OTU2, OTB2, C14orf137 P OTU domain-containing ubiquitin aldehyde-binding protein 2 608338 REc
14.457 3 31 11 14q32.12 PRIMA1, PRIMA P Proline-rich membrane anchor 1 613851 REc
14.458 2 6 16 14q32.12 PPP4R3A, SMEK1, PP4R3A, KIAA2010 P Protein phosphatase 4, regulatory subunit 3, alpha 610351 REc, R
14.459 4 15 11 14q32.12 UBR7 P Ubiquitin protein ligase E3 component N-recognin 7 613816 REc
14.460 3 30 16 14q32.12 UNC79 P Unc79, C. elegans, homolog of 616884 REc 12(Unc79)
14.461 9 10 07 14q32.13 CLMN, KIAA1188 P Calmin 611121 R, REc
14.462 2 5 16 14q32.12-q32.13 PPP4R4, PP4R4, KIAA1622 P Protein phosphatase 4, regulatory subunit 4 616790 REc
14.463 11 13 07 14q32.13 SYNE3, C14orf49 P Spectrin repeat-containing nuclear envelope protein 3 (nesprin 3) 610861 REc 12(C14orf49)
14.464 8 19 13 14q32.2 AK7 P Adenylate kinase 7 615364 REc
14.465 2 17 15 14q32.2 ATG2B P Autophagy 2, S. cerevisiae, homolog of, B 616226 REc
14.466 7 18 14 14q32.2 DEGS2, DES2 P Delta(4)-desaturase, sphingolipid, 2 610862 R, REc
14.467 4 21 16 14q32.2 EVL P ENAH/VASP-like protein 616912 REc
14.468 10 20 15 14q32.2 GSKIP, C14orf129 P GSK3B-interacting protein 616605 REc
14.469 9 8 08 14q32.31 HSP90AA1, HSPCA, HSPC1, HSP90A, HSP89A, HSPCAL4, LAP2 C Heat-shock protein, 90kD, alpha, class A, member 1 140571 REa
14.470 3 17 08 14q32.2 RTL1, PEG11 P Retrotransposon-like gene 1 611896 REn, H 12(Rtl1)
14.471 3 7 14 14q32.2 SETD3 P SET domain-containing protein 3 615671 REc
14.472 3 15 13 14q32.33 AKT1, CWS6 C Murine thymoma viral (v-akt) oncogene homolog-1 164730 REa, A proximal to IGH Breast cancer, somatic, 114480 (3); Colorectal cancer, somatic, 114500 (3); Ovarian cancer, somatic, 167000 (3); {Schizophrenia, susceptibility to}, 181500 (2); Proteus syndrome, somatic, 176920 (3); Cowden syndrome 6, 615109 (3) 12(Akt)
14.473 7 1 11 14q32.32 CDC42BPB, MRCKB P CDC42-binding protein kinase, beta 614062 R, A
14.474 6 15 99 14q32.33 CRIP2, CRP2 C Cysteine-rich intestinal protein 2 601183 A, REa
14.475 5 25 10 14q32.32 EIF5 P Eukaryotic translation initiation factor 5 601710 REc
14.476 2 7 05 14q32.33 GPR132, G2A P G protein-coupled receptor-132 606167 A
14.477 3 9 07 14q32.33 KLC1, KNS2, KNS2A C Kinesin, light chain 1 600025 REa, A
14.478 6 10 98 14q32.32-q32.33 MARK3 P MAP/microtubule affinity-regulating kinase-3 602678 A
14.479 1 12 05 14q32.2 MEG3, GTL2 C Maternally expressed gene 3 605636 REc, REn 100kb from DLK1
14.480 5 22 03 14q32.33 MTA1 P Metastasis-associated gene 1 603526 A 12(Mta1)
14.481 5 12 11 14q32.33 XRCC3, CMM6 P X-ray-repair, complementing defective, repair in Chinese hamster cells-3 600675 REa, A {Melanoma, cutaneous malignant, 6}, 613972 (3); {Breast cancer, susceptibility to}, 114480 (3)
14.482 4 20 10 14q32.31 CINP P CDK2-interacting protein 613362 REc
14.483 10 10 14 14q32.2 HDMCP, C14orf68 P Hepatocellular carcinoma-downregulated mitochondrial carrier protein 609911 REc, H 12(Hdmcp)
14.484 3 23 09 14q32.2 MIR127, MIRN127 P Micro RNA 127 611709 R
14.485 3 23 09 14q32.31 MIR134 P Micro RNA 134 610164 REc
14.486 3 23 09 14q32.2 MIR136, MIRN136 P Micro RNA 136 611710 R
14.487 6 22 14 14q32.31 MIR376C, MIR368 P Micro RNA 368C 610983 REc
14.488 7 1 11 14q32.31 MIR369, MIR369-3, MIRN369-3 P Micro RNA 369 611794 REc
14.489 1 24 09 14q32.31 MIR370, MIRN370 P Micro RNA 370 612553 REc
14.490 3 23 09 14q32.31 MIR376A-1, MIRN376A-1 P Micro RNA 376A-1 610959 R
14.491 3 23 09 14q32.31 MIR376A-2, MIRN376A-2 P Micro RNA 376A-2 610960 R
14.492 3 23 09 14q32.31 MIR376B, MIRN376B P Micro RNA 376b 610961 R
14.493 5 19 15 14q32.31 MIR379 P Micro RNA 379 616358 REc 12(Mir379)
14.494 7 1 11 14q32.31 MIR409, MIRN409 P Micro RNA 409 614057 REc
14.495 1 29 13 14q32.31 MIR410 P Micro RNA 410 615036 REc
14.496 3 23 09 14q32.2 MIR431, MIRN431 P Micro RNA 431 611708 R
14.497 3 23 09 14q32.2 MIR433, MIRN433 P Micro RNA 433 611711 R
14.498 9 9 13 14q32.31 MIR485 P Micro RNA 485 615385 REc
14.499 1 29 13 14q32.31 MIR487B P Micro RNA 487B 615037 REc
14.500 10 12 14 14q32.31 MIR494 P Micro RNA 494 616036 REc
14.501 4 8 13 14q32.31 MIR551A P Micro RNA 495 615149 REc
14.502 5 19 15 14q32.31 MIR656 P Micro RNA 656 616376 REc
14.503 6 4 97 14q32.31 PPP2R5C P Protein phosphatase-2, regulatory subunit B (B56), gamma isoform 601645 A pseudogene on 3p21
14.504 1 29 13 14q32.31 TECPR2, KIAA0329, SPG49 P Tectonin beta-propeller repeat-containing protein 2 615000 REc, R Spastic paraplegia 49, autosomal recessive, 615031 (3)
14.505 10 25 17 14q32.2 WARS, HMN9 C Tryptophanyl-tRNA synthetase 191050 S, A, Fd Neuronopathy, distal hereditary motor, type IX, 617721 (3)
14.506 10 25 17 14q32.31 WDR20 P WD repeat-containing protein 20 617741 REc
14.507 3 14 18 14q32.32 TRAF3, CD40BP, LAP1, CAP1, CRAF1, IIAE5 P TNF receptor-associated factor 3 601896 REc mutation identified in 1 IIAE5 patient {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
14.508 7 15 16 14q32.33 ADSSL1, MPD5 P Adenylosuccinate synthase-like 1 612498 REc Myopathy, distal, 5, 617030 (3)
14.509 10 12 14 14q32.33 APOPT1, APOP P Apoptogenic protein 1, mitochondrial 616003 REc Mitochondrial complex IV deficiency, 220110 (3) 12(Apopt1)
14.510 2 3 15 14q32.33 BRF1, TAF3C, GTF3B, TF3B90, CFDS P BRF1, S. cerevisiae, homolog of (TATA box-binding protein-associated factor 3C) 604902 R, REc Cerebellofaciodental syndrome, 616202 (3)
14.511 9 24 08 14q32.33 CDCA4, HEPP P Cell division cycle-associated protein 4 612270 REc
14.512 11 15 05 14q32.33 CRIP1, CRIP P Cysteine-rich intestinal protein 1 123875 Psh, R, H previously assigned to 7q11.23 12(Crip)
14.513 3 9 00 14q32.33 C14orf2, MP68 P MP68, rat, homolog of 604573 R
14.514 4 8 08 14q32.33 IGHD@ C Immunoglobulin heavy chain diversity gene cluster 146910 RE, REa, A many genes
14.515 10 23 87 14q32.33 IGHA1 C Constant region of heavy chain of IgA1 146900 REa, A Fused with IRTA1 in multiple myeloma
14.516 10 23 87 14q32.33 IGHA2 C Constant region of heavy chain of IgA2 147000 REa, A
14.517 4 30 91 14q32.33 IGHD C Constant region of heavy chain of IgD 147170 REa, A, Fd
14.518 4 8 08 14q32.33 IGHD3-3, DXP4 P Immunoglobulin heavy chain diversity gene 3-3 611937 REn
14.519 10 23 87 14q32.33 IGHE C Constant region of heavy chain of IgE 147180 REa, A pseudogene IGHEP1 nearby; IGHEP2 on chr.9
14.520 10 23 87 14q32.33 IGHG1 C Constant region of heavy chain of IgG1 147100 REa, A
14.521 4 8 98 14q32.33 IGHG2 C Constant region of heavy chain of IgG2 147110 REa, A 5'-G2-17kb-G4-3'; closeness of IGG3 and IGG1 known from Lepore-like myeloma protein IgG2 deficiency, selective (3)
14.522 4 30 91 14q32.33 IGHG3 C Constant region of heavy chain of IgG3 147120 REa, A, Fd
14.523 10 23 87 14q32.33 IGHG4 C Constant region of heavy chain of IgG4 147130 REa, A
14.524 4 15 08 14q32.33 IGHJ@ C Immunoglobulin heavy chain joining gene cluster 147010 RE, REa, A more than 4 genes
14.525 8 10 10 14q32.33 IGHM, MU, AGM1 C Constant region of heavy chain of IgM 147020 REa, A Agammaglobulinemia 1, 601495 (3)
14.526 9 15 89 14q32.33 IGHR L Immunoglobulin heavy chain regulator 144120 F ?Hyperimmunoglobulin G1 syndrome (2)
14.527 4 15 08 14q32.33 IGHV@ C Immunoglobin heavy polypeptide, variable gene cluster 147070 REa, RE, A ~250 genes; orientation: cen-PI-D14S1-IGH-IGHV--qter; 3' centromeric, 5' telomeric; IgM telomeric to IgG
14.528 2 21 10 14q32.33 KIF26A, KIAA1236 P Kinesin family member 26A 613231 R, REc
14.529 4 15 08 14q32.33 IGHV3-23, IGHV323, DP47, VH26 P Immunoglobulin heavy chain variable gene 3-23 611939 REn
14.530 1 30 12 14q32.33 INF2, FSGS5, C14orf173, CMTDIE P Inverted formin 2 610982 REc Glomerulosclerosis, focal segmental, 5, 613237 (3); Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
14.531 10 28 15 14q32.33 KIAA0125, FAM30A, C14orf110 P KIAA0125 gene, noncoding 616623 Psh, REc
14.532 3 23 09 14q32.33 MIR203, MIRN203 P Micro RNA 203 611899 REc
14.533 5 24 13 14q32.33 PACS2, KIAA0602 C Phosphofurin acidic cluster sorting protein 2 610423 R, REc
14.534 2 25 15 14q32.33 ZBTB42, ZNF925, LCCS6 P Zinc finger- and BTB domain-containing protein 42 613915 REc mutation identified in 1 LCCS6 family ?Lethal congenital contracture syndrome 6, 616248 (3)
14.535 12 15 10 14q32.33 ZFYVE21, ZF21 P Zinc finger FYVE domain-containing protein 21 613504 REc
14.536 10 23 87 Chr.14 LCH C Lentil agglutinin-binding 151020 S
14.537 5 12 00 14q22.1 MAP4K5, MAPKKKK5 P Mitogen-activated protein kinase kinase kinase kinase-5 604923 R
14.538 9 3 02 14q12 NFATC4 P Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 4 602699 R
14.539 11 21 02 14q22.1 NID2 P Nidogen 2 605399 H 14(Nid2)
14.540 1 27 04 Chr.14 PHOBS P Phobia, specific 608251 Fd Phobia, specific (2)
14.541 9 20 00 14q21.1 PNN, DRS P Pinin 603154 R
14.542 10 21 15 Chr.14 RC14S P Ring chromosome 14 syndrome 616606 Ch Ring chromosome 14 syndrome (4)
14.543 4 4 03 14q32.31-q32.32 RCOR, COREST, KIAA0071 P REST corepressor 607675 R
14.544 1 28 02 14q21.3 RPL36AL, RPL36A P Ribosomal protein L36a-like 180469 Psh
15.1 4 26 90 15p12 RNR3 C Ribosomal RNA-3 180452 A
15.2 11 16 98 15q13.1 APBA2 P Amyloid beta A4 precursor protein-binding, family A, member 2 602712 R 7(Apba2)
15.3 2 1 00 15q HYT2 P Hypertension, essential, susceptibility to, 2 604329 Fd {Hypertension, essential, susceptibility to, 2}, 145500 (2)
15.4 5 24 01 15q LCS1, CHLS P Cholestasis-lymphedema syndrome 214900 Fd, HZ Cholestasis-lymphedema syndrome (2)
15.5 1 13 99 15q21.3 NEDD4 P Neural precursor cell expressed, developmentally downregulated-4 602278 H, A
15.6 10 20 99 15q22.31 RPL4 P Ribosomal protein L4 180479 REa, R
15.7 1 13 09 15q25.2 RPS17, RPS17L1, RPS17L2, DBA4 P Ribosomal protein S17 180472 Psh, R previously on chr.11; pseudogenes on 5q33-qter and 17q Diamond-Blackfan anemia 4, 612527 (3)
15.8 5 16 07 15q11 AUTS4 P Autism, susceptibility to, 4 608636 Ch {Autism susceptibility 4} (2)
15.9 11 15 08 15q11.2 CYFIP1, KIAA0068 P Cytoplasmic FMRP interacting protein 1 606322 R, REc
15.10 7 17 91 15q11-q12 IGHDY2 P Immunoglobulin heavy chain diversity region-2 146990 A ?functional
15.11 10 23 87 15q11-q12 MIC7 P Attached cell antigen 28.3.7 108990 S
15.12 6 5 03 15q12 ATP10A, ATP10C, ATPVC C ATPase, class V, type 10A 605855 R, REc, D
15.13 4 4 06 15q11-q13 CELIAC5, GSES P Celiac disease, susceptibility to, 5 607202 Fd in homogeneous Finnish population {Celiac disease, susceptibility to, 5} (2)
15.14 11 28 05 15q11-q13 GLC1I P Glaucoma 1, open angle, I 609745 Fd max lod at GABRB3 Glaucoma 1, open angle, I (2)
15.15 11 8 96 15q11.2 IPW P Imprinted in Prader-Willi syndrome 601491 REc
15.16 1 25 93 15q24.2 MAN2C1, MANA C Mannosidase, alpha, class 2C, member 1 154580 S, D
15.17 8 1 13 15q11.2 MKRN3, ZFP127, ZNF127, CPPB2 P Makorin 3 603856 REc expressed only from paternal allele Precocious puberty, central, 2, 615346 (3) 7(Znf127)
15.18 11 3 99 15q11-q13 MRKN3AS, ZNF127AS P MKRN3 antisense RNA 603857 REc
15.19 4 5 00 15q11.2 NDN C Necdin 602117 A, Psh, REc Prader-Willi syndrome, 176270 (3) 7(Ndn)
15.20 11 13 94 15q11.2 D15S227E, PAR1 P Prader-Willi/Angelman region-1 600161 REn paternally imprinted
15.21 11 13 94 15q11.2 D15S226E, PAR5 P Prader-Willi/Angelman syndrome-5 600162 REn paternally imprinted
15.22 2 20 97 15q11.2 UBE3A, ANCR C Ubiquitin protein ligase E3A 601623 Ch, D, REc same location as PWS Angelman syndrome, 105830 (3)
15.23 6 6 12 15q13.3 SCG5, SGNE1 P Secretogranin V (7B2 protein ) 173120 A 2(Sgne1)
15.24 5 3 10 15q11-q21.1 RCHTS L Roifman-Chitayat syndrome 613328 Fd ?1p36.23-p33 ?Roifman-Chitayat syndrome (2)
15.25 10 29 91 15q11-q22 MIC12 P Antigen identified by monoclonal antibody 30.2A8 107254 S in myoblasts, but not myotubes
15.26 7 5 92 15q11-qter HCVS P Human coronavirus sensitivity 122460 S
15.27 5 2 01 15q15.1 EHD4 P EH domain-containing 4 605892 R
15.28 4 27 12 15q11.2 NIPA1, SPG6 C Nonimprinted gene in Prader-Willi syndrome/Angelman syndrome chromosome region 1 608145 Fd, REc Spastic paraplegia 6, autosomal dominant, 600363 (3) 7(Nipa1)
15.29 3 7 14 15q11.2 DEL15q11.2, C15DELq11.2 P Chromosome 15q11.2 deletion syndrome 615656 Ch deleted region spans 300-500kb between BP1 and BP2 Chromosome 15q11.2 deletion syndrome (4)
15.30 4 7 15 15q11.2 MAGEL2, NDNL1, SHFYNG P MAGE-like 2 605283 REc Schaaf-Yang syndrome, 615547 (3) 7(Magel2)
15.31 7 21 14 15q11.2 NBEAP1, BCL8 P Neurobeachin pseudogene 1 601889 REc, A
15.32 4 25 06 15q11.2 NIPA2 C Nonimprinted gene in Prader-Willi syndrome/Angelman syndrome chromosome region 2 608146 REc, H 7(Nipa2)
15.33 5 26 13 15q11.2 PWRN1 P Prader-Willi region noncoding RNA 1 611215 REc
15.34 5 26 13 15q11.2 PWRN2 P Prader-Willi region noncoding RNA 2 611217 REc
15.35 3 23 15 15q11.2 SNHG14, LNCAT, UBE3AATS P Small nucleolar RNA host gene 14 616259 REc, H 7(Snhg14)
15.36 3 16 10 15q11.2 SNORD115-1, RNHBII52 C Small nucleolar RNA, C/D box, 115-1 609837 REn, REc
15.37 3 16 10 15q11.2 SNORD116-1, PWCR1 P Small nucleolar RNA, C/D box, 116-1 605436 REc
15.38 11 21 03 15q11.2 TUBGCP5, GCP5, KIAA1899 C Tubulin-gamma complex-associated protein 5 608147 REc, H 7(Gcp5)
15.39 9 22 16 15q12 GABRB3, ECA5, EIEE43 C Gamma-aminobutyric acid (GABA) A receptor, beta-3 137192 A, H, D, REn {Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3); Epileptic encephalopathy, early infantile, 43, 617113 (3) 7(Gabrb3)
15.40 1 9 95 15q12 GABRA5 C Gamma-aminobutyric acid (GABA) A receptor, alpha-5 137142 A, REa, REb, D, REn 100kb from GABRB3 7(Gabra5)
15.41 1 9 95 15q12 GABRG3 P Gamma-aminobutyric acid (GABA) A receptor, gamma-3 600233 REn cen--G3--A5--B3
15.42 4 18 05 15q11.2-q12 MGR7 P Migraine with aura, susceptibility to, 7 609179 Fd between D15S113 and D15S1019 {Migraine with aura, susceptibility to, 7} (2)
15.43 1 17 08 15q12-q13 OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1 C Pink-eye dilution, murine, homolog of (oculocutaneous albinism II) 611409 D, REa, Fd ?hypopigmentation in PWS and AS Albinism, oculocutaneous, type II, 203200 (3); Albinism, brown oculocutaneous, 203200 (3); [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3); [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) 7(p)
15.44 8 21 07 15q12 HPC7 P Prostate cancer, hereditary, 7 610321 Fd {Prostate cancer, hereditary, 7} (2)
15.45 12 14 10 15q13.3 KLF13, RFLAT1, FKLF2 P Kruppel-like factor 13 605328 REc
15.46 6 15 12 15q11.2 NPAP1, C15orf2 P Nuclear pore associated protein 1 610922 REc
15.47 4 5 00 15q11.2 SNRPN P Small nuclear ribonucleoprotein polypeptide N 182279 REa, D Prader-Willi syndrome, 176270 (3) 7(Snrpn)
15.48 7 25 06 15q12-q15 MCOPCB2 P Microphthalmia, isolated, with coloboma 2 605738 Fd Microphthalmia with coloboma 2 (2)
15.49 1 13 17 15q15.1 MAPKBP1, JNKBP1, NPHP20 P Mitogen-activated protein kinase-binding protein 1 616786 REc Nephronophthisis 20, 617271 (3)
15.50 2 11 14 15q13 SRTD1, ATD1 P Short-rib thoracic dysplasia 1 with or without polydactyly 208500 Fd Short-rib thoracic dysplasia 1 with or without polydactyly (2)
15.51 9 22 09 15q13 SCZD13 P Schizophrenia 13 613025 Ch associated with deletion at 15q13.3 {Schizophrenia, susceptibility to, 13} (2)
15.52 2 18 96 15q13.1 TJP1 P Tight junction protein 1 (zona occludens 1) 601009 A 7(Tjp1)
15.53 8 21 98 15q13.3 FMN, LD C Formin (limb deformity) 136535 REa, A, Fd, Psh 2(ld)
15.54 10 7 02 15q14 SLC12A6, KCC3A, KCC3B, KCC3, ACCPN C Solute carrier family 12 (potassium/chloride transporters), member 6 604878 A, R, REa, Fd Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
15.55 1 31 13 15q13.3 TRPM1, MLSN1, CSNB1C P Transient receptor potential cation channel, subfamily M, member 1 (melastatin) 603576 R Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3) 7(Mlsn1)
15.56 10 23 87 15q13-q15 B2MR C Beta-2-microglobulin regulator 109710 D
15.57 6 15 12 15q13.3 GREM1, CKTSF1B1 P Gremlin 1 homolog, cystine knot superfamily 603054 Psh, R
15.58 11 13 94 15q15.3 MAP1A, MAP1L P Microtubule-associated protein 1A 600178 Psh
15.59 11 19 13 15q13.1 HERC2, SHEP1, MRT38 C HECT domain and RCC1-like domain 2 605837 Psh, R, REc mutations in intron 4 [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3); [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3); Mental retardation, autosomal recessive 38, 615516 (3)
15.60 12 5 16 15q13.1 NSMCE3, NDNL2, MAGEG1, LICS P NSE3 homolog, SMC5-SMC6 complex component 608243 REc, H Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 (3) 7(Ndnl2)
15.61 5 11 04 15q13.1-q15.1 CILD4 P Ciliary dyskinesia, primary, 4 608646 Fd between D15S1012 and D15S1048 Ciliary dyskinesia, primary, 4 (2)
15.62 11 30 06 15q13.3 ARHGAP11A, KIAA0013 P RHO GTPase-activating protein 11A 610589 Psh, REc
15.63 4 10 15 15q13.2 ARHGAP11B, FAM7B1 P RHO GTPase-activating protein 11B 616310 REc
15.64 9 16 09 15q14 SPRED1, NFLS C Sprouty-related EVH1 domain-containing protein 1 609291 REc Legius syndrome, 611431 (3) 2(Spred1)
15.65 9 14 12 15q13.3 FAN1, MTMR15, KIAA1018, KMIN P FANCD2/FANCI-associated nuclease 1 613534 REc Interstitial nephritis, karyomegalic, 614817 (3)
15.66 7 11 11 15q15.1 CHP P Calcineurin B homologous protein 606988 R, REc
15.67 9 22 09 15q13.3 DEL15q13.3, MICRODEL15q13.3 P Chromosome 15q13.3 microdeletion syndrome 612001 Ch Chromosome 15q13.3 microdeletion syndrome (4)
15.68 2 22 11 15q13.3 MIR211, MIRN211 P Micro RNA 211 613753 REc
15.69 10 18 11 15q15.1 NDUFAF1, CIA30, CGI65 P NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1 606934 REc Mitochondrial complex I deficiency, 252010 (3)
15.70 6 5 08 15q13.3 OTUD7A, OTUD7, C16orf15, CEZANNE2 P OTU domain-containing protein 7A 612024 REc
15.71 6 16 10 15q14 ACTC1, CMD1R, CMH11, ASD5, LVNC4 C Actin, alpha, cardiac muscle 102540 REa, Fd, A Cardiomyopathy, dilated, 1R, 613424 (3); Cardiomyopathy, hypertrophic, 11, 612098 (3); Atrial septal defect 5, 612794 (3); Left ventricular noncompaction 4, 613424 (3) 2(Actc1)
15.72 6 9 08 15q14 AGPAT7, AYTL3 P 1-acylglycerol-3-phosphate O-acyltransferase 7 612039 REc
15.73 5 26 13 15q14 AQR, IBP160, KIAA0560 P Aquarius, mouse, homolog of 610548 R, REc 2(Aqr)
15.74 7 9 06 15q15.1 BMF P BCL2-modifying factor 606266 REn
15.75 2 13 14 15q14 C15orf41 P Chromosome 15 open reading fram 41 615626 REc Dyserythropoietic anemia, congenital, type Ib, 615631 (3)
15.76 8 14 17 15q13.3 CHRNA7 C Cholinergic receptor, nicotinic, alpha polypeptide-7 118511 A 7(Acra7)
15.77 11 22 13 15q15.1 CHST14, D4ST1, ATCS, EDSMC1 b Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 608429 REc Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)
15.78 9 22 09 15q14 EIG7, EJM2 P Epilepsy, idiopathic generalized, susceptibility to, 7 604827 Fd ?role of CHRNA7 {Epilepsy, idiopathic generalized, susceptibility to, 7} (2); Epilepsy, juvenile myoclonic (2)
15.79 2 25 15 15q14 EMC4, TMEM85, PIG17 P ER membrane protein complex subunit 4 616245 REc
15.80 1 12 15 15q14 FAM98B P Family with sequence similarity 98, member B 616142 REc
15.81 6 22 14 15q14 FSIP1, HSD10 P Fibrous sheath-interacting protein 1 615795 REc
15.82 12 27 07 15q14 GJD2, GJA9, CX36 P Gap junction protein, delta-2 (connexin 36) 607058 A, H 2(Gja9)
15.83 1 12 15 15q14 GOLGA8A, KIAA0855 C Golgin A8 family, member A 616180 R, REc
15.84 10 5 04 15q14 GOLGA8B, KIAA0855 P Golgi autoantigen, golgin subfamily A, 8B 609619 R, REc
15.85 2 25 15 15q14 KATNBL1, C15orf29 P Katanin, p80 subunit, B-like 1 616235 REc
15.86 8 29 08 15q14-q15 GPR176 P G protein-coupled receptor 176 612183 R, REc
15.87 4 7 16 15q14 DEL15q14, C15DELq14 P Chromosome 15q14 deletion syndrome 616898 Ch Chromosome 15q14 deletion syndrome (4)
15.88 3 31 03 15q15.1 IVD P Isovaleryl Coenzyme A dehydrogenase 607036 REa Isovaleric acidemia, 243500 (3)
15.89 12 28 11 15q14 NOLA3, NOP10, DKCB1 C Nucleolar protein family A, member 3 606471 R, Fd Dyskeratosis congenita, autosomal recessive 1, 224230 (3)
15.90 11 4 93 15q13-q14 RYR3 C Ryanodine receptor-3 180903 A, Psh 2(Ryr3)
15.91 10 16 92 15q15.1 ITPKA P Inositol 1,4,5-trisphosphate 3-kinase A 147521 A
15.92 5 17 19 15q14 MEIS2, MRG1, CPCMR P Meis1, mouse, homolog of, 2 601740 Psh Cleft palate, cardiac defects, and mental retardation, 600987 (3) 2(Mrg1)
15.93 6 9 17 15q21.1 BLOC1S6, BLOS6, PLDN, PA, HPS9 P Biogenesis of lysosome-related organelles complex 1, subunit 6 604310 R mutation identified in 1 HPS9 patient ?Hermansky-pudlak syndrome 9, 614171 (3) 2(Pa)
15.94 2 19 13 15q15.1 BUB1B, BUBR1, MVA1 C Budding uninhibited by benzimidazoles 1, S. cerevisiae, homolog of, beta 602860 A Colorectal cancer, somatic, 114500 (3); Mosaic variegated aneuploidy syndrome 1, 257300 (3); [Premature chromatid separation trait], 176430 (3)
15.95 2 13 14 15q15.2 CDAN1, CDA1, CDAN1A C Codanin 1 607465 Fd, LD Dyserythropoietic anemia, congenital, type Ia, 224120 (3)
15.96 7 26 10 15q15.3 CKMT1A P Creatine kinase, mitochondrial 1A 613415 REc telomeric to CKMT1B
15.97 1 9 95 15q15.3 CKMT1B, CKMT1 C Creatine kinase, mitochondrial 1B 123290 REa, A centromeric to CKMT1A 2(Ckmt1)
15.98 5 19 09 15q21.1 DUOXA1 P Dual oxidase maturation factor 1 612771 REc tail-to-tail with DUOXA2
15.99 9 29 09 15q21.1 DUOXA2, TDH5 P Dual oxidase maturation factor 2 612772 REc head-to-head with DUOX2 Thyroid dyshormonogenesis 5, 274900 (3)
15.100 11 18 15 15q15.2 EPB42, SPH5 C Erythrocyte surface protein band 4.2 177070 A Spherocytosis, type 5, 612690 (3) 2(Epb4.2)
15.101 4 13 98 15q15.3 GRP58 P Glucose regulated protein, 58kD 602046 A 2(Grp58)
15.102 10 24 14 15q15.1 MGA, KIAA0518 C MAX dimerization protein MGA 616061 R, REc 2(Mga)
15.103 7 13 09 15q15.1 PLA2G4D P Phospholipase A2, Group IVD 612864 REc
15.104 6 10 02 15q15.1 PLCB2 P Phospholipase C, beta-2 604114 REa, A Platelet PLC beta-2 deficiency (1)
15.105 8 9 99 15q14 RASGRP1 P Ras guanyl nucleotide releasing protein-1 603962 A 2(Rasgrp1)
15.106 8 3 12 15q15 SCZD10 P Schizophrenia 10 605419 Fd between D15S1042 and D15S659 {Schizophrenia 10} (2)
15.107 8 30 01 15q21.1 SLC28A2, CNT2, SPNT1 C Solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 606208 R, A 2(Slc28a2)
15.108 6 1 12 15q15.2 STARD9, KIAA1300 C START domain-containing protein 9 614642 R, REc
15.109 11 8 01 15q15.3 STRC, DFNB16 C Stereocilin 606440 REc, Fd Deafness, autosomal recessive 16, 603720 (3)
15.110 6 5 90 15q14 THBS1 P Thrombospondin 1 188060 REa, A 2(Thbs1)
15.111 5 4 15 15q15.3 TUBGCP4, GCP4, MCCRP3 P Tubulin-gamma complex-associated protein 4 609610 R, REc Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)
15.112 1 12 95 15q15.3 MFAP1 C Microfibrillar-associated protein-1 600215 REa, A, REc
15.113 9 20 00 15q15.3 TP53BP1, 53BP1 P Tumor protein p53-binding protein-1 605230 A
15.114 6 19 98 15q21.1 DUT P dUTP pyrophosphatase 601266 A
15.115 5 29 98 15q21.2 FGF7 C Fibroblast growth factor-7 (keratinocyte growth factor) 148180 A, H 2(Fgf7)
15.116 8 23 04 15q21.1 SLC12A1, NKCC2 C Solute carrier family 12 (sodium/potassium/chloride transporters), member 1 600839 H, Fd, LD Bartter syndrome, type 1, 601678 (3) 2(Slc12a1)
15.117 12 7 05 15q15.2 UBR1, JBS C Ubiquitin-protein ligase E3-alpha 605981 H, REc, Fd Johanson-Blizzard syndrome, 243800 (3) 2(Ubr1)
15.118 4 15 11 15q15.1 BAHD1, KIAA0945 P BROMO-adjacent homology domain-containing protein 1 613880 R, REc
15.119 3 3 16 15q15.1 DNAJC17 P DNAJ/HSP40 homolog, subfamily C, member 17 616844 REc 2(Dnajc17)
15.120 10 7 14 15q15.1 KNSTRN, C15orf23, SKAP P Kinetochore-localized astrin/SPAG5 binding protein 614718 REc
15.121 4 27 12 15q15.1 CHAC1 P ChaC, E. coli, homolog of, 1 614587 REc
15.122 2 13 14 15q15.1 EIF2AK4, GCN2, KIAA1338, PVOD2 P Eukaryotic translation initiation factor 2-alpha kinase 4 609280 REc Pulmonary venoocclusive disease 2, 234810 (3)
15.123 9 23 08 15q15.1 FAM82A2, FAM82C, RMD3, PTPIP51 P Family with sequence similarity 82, member A2 611873 REc
15.124 5 25 13 15q15.1 GCHFR, GFRP P GTP cyclohydrolase I feedback regulatory protein 602437 REc
15.125 7 9 15 15q15.1 INO80, INOC1 P INO80 complex subunit 610169 REc
15.126 6 12 17 15q15.1 KNL1, CASC5, AF15Q14, KIAA1570, D40, MCPH4 C Kinetochore scaffold 1 609173 A, REc Microcephaly 4, primary, autosomal recessive, 604321 (3)
15.127 7 15 09 15q15.1 NUSAP1, ANKT, NUSAP P Nucleolar and spindle-associated protein 1 612818 REc
15.128 5 10 11 15q15.1 PAK6 P p21-activated kinase 6 608110 R, REc
15.129 3 3 10 15q15.1 PPP1R14D, GBPI1 P Protein phosphatase 1, regulatory subunit 14D 613256 REc
15.130 12 15 16 15q15.1 RAD51A, RECA, MRMV2, FANCR C RAD51, S. cerevisiae, homolog of, A (E. coli RecA homolog) 179617 REa, A mutation identified in 1 FANCR patient {Breast cancer, susceptibility to}, 114480 (3); Mirror movements 2, 614508 (3); ?Fanconi anemia, complementation group R, 617244 (3) 2(Rad51)
15.131 10 13 09 15q15.1 RPAP1, KIAA1403 P RNA polymerase II-associated protein 1 611475 R, REc
15.132 9 2 10 15q15.1 RTF1, KIAA0252 C RTF1, S. cerevisiae, homolog of 611633 R
15.133 9 16 16 15q15.1 TYRO3 C TYRO3 protein tyrosine kinase 600341 REa, Psh, REn 2(Tyro3)
15.134 11 19 15 15q15.1 VPS18 P Vacuolar protein sorting 18, yeast, homolog of 608551 REc
15.135 8 29 08 15q15.1 VPS39, VAM6, TLP, KIAA0770 P Vacuolar protein sorting 39, yeast, homolog of 612188 R, REc
15.136 1 2 03 15q15.1 GANC C Neutral alpha-glucosidase C 104180 S, REc
15.137 4 9 15 15q15.3 CATSPER2 C Cation channel, sperm-associated, 2 607249 A, REc, H in region with tandem duplication containing a CATSPER2 pseudogene 2(Catsper2)
15.138 11 2 95 15q15.1 CAPN3, CANP3 C Calpain, large polypeptide L3 114240 REb, Fd, A, REn, H Muscular dystrophy, limb-girdle, type 2A, 253600 (3) 2(Canp3)
15.139 1 9 95 15q15.1 LTK, TYK1 C Leukocyte tyrosine kinase 151520 REa, Psh 2(Ltk)
15.140 9 7 10 15q15.2 HAUS2, CEP27 P HAUS augmin-like complex, subunit 2 613429 REc
15.141 11 10 14 15q15.2 TGM5, TGX, PSS2 C Transglutaminase 5 603805 A, Fd Peeling skin syndrome 2, 609796 (3)
15.142 3 26 02 15q15.2-q15.3 TGM7, TGMZ P Transglutaminase 7 606776 Psh, R 2(Tgm7)
15.143 1 2 08 15q15.2 TTBK2, SCA11 C Tau tubulin kinase 2 611695 Fd, REc Spinocerebellar ataxia 11, 604432 (3)
15.144 1 15 09 15q15.3 DEL15q15.3, C15DELq15.3 P Chromosome 15q15.3 deletion syndrome 611102 Ch Deafness and male infertility (4)
15.145 1 11 07 15q21.1 DUOX1, THOX1 C Dual oxidase 1 (thyroid oxidase 1) 606758 A, R, H 2(Duox1)
15.146 9 29 09 15q21.1 DUOX2, THOX2, TDH6 C Dual oxidase 2 (thyroid oxidase 2) 606759 A, R, H Thyroid dyshormonogenesis 6, 607200 (3) 2(Duox2)
15.147 10 3 07 15q21.1 EIF3J, EIF3S1 P Eukaryotic translation initiation factor 3, subunit J 603910 REc
15.148 2 10 06 15q15.3 ELL3 P Elongation factor, RNA polymerase II, 3 609885 R, REc
15.149 4 13 15 15q15.3 FRMD5 P FERM domain-containing protein 5 616309 REc
15.150 6 7 10 15q15.3 FRTS1, FRTS, RFS P Fanconi renotubular syndrome 134600 Fd Fanconi renotubular syndrome 1 (2)
15.151 5 19 09 15q15.3 HYPK P Huntingtin-interacting protein K 612784 REc
15.152 5 26 13 15q15.3 LCMT2, TYW4, KIAA0547 P Leucine carboxyl methyltransferase 2 611246 REc
15.153 10 30 06 15q21.2 LEO1, RDL P LEO1 RNA polymerase II associated factor, S. cerevisiae, homolog of 610507 REc
15.154 9 3 15 15q15.3 PPIP5K1, HISPPD2A, IPS1, KIAA0377 C Diphosphoinositol pentakisphosphate kinase 1 610979 R, REc
15.155 3 25 14 15q15.3 SERF2, H4F5REL P Small EDRK-rich factor 2 605054 REc
15.156 4 2 12 15q15.3 SERINC4 P Serine incorporator 4 614550 REc
15.157 8 31 99 15q21.1 SORD, SORD1 C Sorbitol dehydrogenase 182500 S, H, A, REa, Psh ?Cataract, congenital (2) 2(Sdh1)
15.158 11 12 03 15q21.2 SPPL2A, IMP3 P Signal peptide peptidase-like 2A 608238 REc
15.159 6 15 12 15q15.3-q22.1 HMPS1, CRAC1, CRCS4, DUP15q, C15DUPq P Polyposis syndrome, mixed, hereditary 1 601228 Fd duplication of 40kb of 15q resulting in overexpression of GREM1 Polyposis syndrome, mixed hereditary 1 (4); {Colorectal cancer, susceptibility to, 4} (4)
15.160 6 13 02 15q21.2 BCL2L10 C BCL2-like 10 606910 REc, R 9(Bcl2l10)
15.161 3 20 95 15q21 CDAN3, CDA3 P Congenital dyserythropoietic anemia, type III 105600 Fd Dyserythropoietic anemia, congenital, type III (2)
15.162 4 29 17 15q21.3 DNAAF4, DYX1C1, DYXC1, DYX1, CILD25 C Dynein, axonemal, assembly factor 4 608706 Fd, REc not confirmed by some studies {Dyslexia, susceptibility to, 1}, 127700 (3); Ciliary dyskinesia, primary, 25, 615482 (3)
15.163 6 20 13 15q22.31 MAP2K1, PRKMK1, MKK1, MEK1, CFC3 C Mitogen-activated protein kinase kinase 1 176872 R, REa, A pseudogene on 8p21 Cardiofaciocutaneous syndrome 3, 615279 (3) 9(Mek1)
15.164 4 28 10 15q21.2 MYO5A, MYH12, GS1 C Myosin Va 160777 REa, A, Fd Griscelli syndrome, type 1, 214450 (3) 9(d, Myh12)
15.165 4 19 06 15q21.2 MYO5C P Myosin Vc 610022 REc
15.166 6 25 08 15q22.31 OSTB P Organic solute transporter, beta 612085 REc 9(Ostb)
15.167 3 17 03 15q21.3 RAB27A, RAM, GS2 P Ras-associated protein RAB27A 603868 A, REc Griscelli syndrome, type 2, 607624 (3) 9(ash, Rab27a)
15.168 5 29 01 15q15.1 SPTBN5, BSPECV P Spectrin, beta, non-erythrocytic 5 605916 REc
15.169 7 22 13 15q21.3 TCF12, HTF4, CRS3 C Transcription factor-12 (HTF4, helix-loop-helix transcription factors-4) 600480 REa, A, REc Craniosynostosis 3, 615314 (3)
15.170 5 2 06 15q21.2 TRPM7, LTRPC7, CHAK, ALSPDC P Transient receptor potential cation channel, subfamily M, member 7 605692 REc {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
15.171 10 29 03 15q22.31 ACP33, MAST, SPG21 C Acidic cluster protein, 33kD, (maspardin) 608181 REc, Fd Mast syndrome, 248900 (3)
15.172 3 19 91 15q22.2 ANXA2, ANX2L4, LPC2D, LIP2 C Annexin A2 (lipocortin I) 151740 REa, Psh pseudogenes ANX2P1 on 4q21-q31; ANX2P2 on 9p13; ANX2P3 on 10q24-q22
15.173 11 17 15 15q21.1 B2M, IMD43 C Beta-2-microglobulin 109700 S, D, H mutation identified in 1 FVA family Immunodeficiency 43, 241600 (3); ?Amyloidosis, familial visceral, 105200 (3) 2(B2m)
15.174 7 22 13 15q21-q22 CTRCT25, CCSSO P Cataract 25 605728 Fd Cataract 25 (2)
15.175 2 21 14 15q21.2 HDC C Histidine decarboxylase 142704 REa, Psh, A {Gilles de la Tourette syndrome, susceptibility to}, 137580 (3) 2(Hdc)
15.176 8 2 11 15q22.2 MYO1E, MYO1C, FSGS6 P Myosin IE 601479 A Glomerulosclerosis, focal segmental, 6, 614131 (3) 9(Myo1e)
15.177 8 16 99 15q21.3 PIGB P Phosphatidylinositol glycan, class B 604122 A
15.178 11 3 09 15q22.31 PPIB, CYPB, OI9 P Peptidyl-prolyl isomerase B 123841 REc Osteogenesis imperfecta, type IX, 259440 (3)
15.179 2 18 96 15q22.2 RORA P RAR-related orphan receptor A 600825 A 9(Rora)
15.180 4 20 17 15q22.31 SMAD6, MADH6, AOVD2 P Mothers against decapentaplegic, Drosophila, homolog of, 6 602931 Psh, REc Aortic valve disease 2, 614823 (3); {Craniosynostosis 7, susceptibility to}, 617439 (3)
15.181 4 17 01 15q15.1-q15.2 SNAP23 P Synaptosomal-associated protein, 23kD 602534 A
15.182 1 5 12 15q23 CLN6, CLN4A C CLN6 gene 606725 Fd, LD Ceroid lipofuscinosis, neuronal, 6, 601780 (3); Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3) 9(nclf, Cln6)
15.183 1 4 13 15q21.1 CEP152, KIAA0912, MCPH9, SCKL5 P Centrosomal protein, 152kD 613529 R, REc Microcephaly 9, primary, autosomal recessive, 614852 (3); Seckel syndrome 5, 613823 (3)
15.184 9 20 10 15q21.2 CYP19A1, CYP19, ARO C Cytochrome P450, family 19, subfamily A, polypeptide 1 (aromatization of androgens) 107910 REa, A, H close to CYP11 in mouse Aromatase deficiency, 613546 (3); Aromatase excess syndrome, 139300 (3) 9(Cyp19)
15.185 10 15 15 15q15.1 DLL4, AOS6 P Delta-like 4 605185 R Adams-Oliver syndrome 6, 616589 (3) 2(Dll4)
15.186 3 9 17 15q21.1 FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS C Fibrillin-1 134797 A, Fd Marfan syndrome, 154700 (3); Marfan lipodystrophy syndrome, 616914 (3); Ectopia lentis, familial, 129600 (3); MASS syndrome, 604308 (3); Weill-Marchesani syndrome 2, dominant, 608328 (3); Stiff skin syndrome, 184900 (3); Acromicric dysplasia, 102370 (3); Geleophysic dysplasia 2, 614185 (3) 2(Fbn1)
15.187 4 19 16 15q21.1 GATM, AGAT, CCDS3 C L-arginine:glycine amidinotransferase 602360 Psh, R, H, REc Cerebral creatine deficiency syndrome 3, 612718 (3) 2(Gatn)
15.188 4 2 16 15q21.1 HMGN2P46, C15orf21 P High mobility group nucleosomal binding domain 2 pseudogene 46 611314 REc
15.189 1 27 04 15q21.1 NMES1 P Normal mucosa of esophagus-specific gene 1 608409 R
15.190 10 26 17 15q21.1 PATL2, PAT1A, OOMD4 P Protein associated with topoisomerase II, S. Cerevisiae, homolog of 614661 REc Oocyte maturation defect 4, 617743 (3)
15.191 4 29 14 15q21.1 SECISBP2L, SBP2L, KIAA0256 P Selenocysteine insertion sequence-binding protein 2-like 615756 R, REc
15.192 4 21 15 15q21.1 SEMA6D, KIAA1479 P Semaphorin 6D 609295 REc
15.193 3 18 17 15q21.1 SHC4, RALP, SHCD C SHC transforming protein 4 617372 REc
15.194 2 2 17 15q21.1 SHF P SH2 domain-containing adaptor protein F 617313 REc
15.195 8 8 13 15q21.1 SLC24A5, NCKX5, SHEP4, OCA6 P Solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 609802 REc, R [Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3); Albinism, oculocutaneous, type VI, 113750 (3)
15.196 9 12 01 15q21.1 SLC30A4, ZNT4 C Solute carrier family 30 (zinc transporter), member 4 602095 A, REc, H 2(lm, Slc30a4)
15.197 12 1 15 15q21.1 SPG11, KIAA1840, FLJ21439, ALS5, CMT2X C Spastascin 610844 Fd, R Spastic paraplegia 11, autosomal recessive, 604360 (3); Amyotrophic lateral sclerosis 5, juvenile, 602099 (3); Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3)
15.198 9 1 17 15q21.1 SQOR, SQRDL P Sulfide quinone oxidoreductase 617658 REc
15.199 9 26 16 15q21.1 TERB2, C15orf43 P Telomere repeat-binding bouquet formation protein 2 617131 REc
15.200 9 30 14 15q21.1 TRIM69, TRIF, RNF36 P Tripartite motif-containing protein 69 616017 REc, H 2(Trim69)
15.201 2 24 17 15q21.1 EID1, CRI1, C15orf3 P EP300-interacting inhibitor of differentiation 1 605894 R
15.202 10 20 99 15q21.3 ONECUT1, HNF6A, HNF6 P One cut domain, family member 1 (hepatocyte nuclear factor 6-alpha) 604164 A
15.203 4 17 01 15q21.2 TMOD2 P Tropomodulin 2, neuronal 602928 R 9(Tmod2)
15.204 4 17 01 15q21.2 TMOD3 C Tropomodulin 3 605112 R, REc 9(Tmod3)
15.205 3 16 16 15q21.2 AP4E1, SPG51, CPSQ4, STUT1 P Adaptor-related protein complex 4, epsilon-1 subunit 607244 REc Spastic paraplegia 51, autosomal recessive, 613744 (3); Stuttering, familial persistent, 1, 184450 (3)
15.206 8 7 17 15q21.2 DMXL2, RC3, KIAA0856, PEPNS, DFNA71 P DMX-like 2 612186 R, REc mutation identified in 1 PEPNS family and 1 DFNA71 family ?Polyendocrine-polyneuropathy syndrome, 616113 (3); ?Deafness, autosomal dominant 71, 617605 (3)
15.207 11 22 16 15q21.2 GNB5, GB5, IDDCA, LADCI P Guanine nucleotide-binding protein, beta-5 604447 R, REc Intellectual developmental disorder with cardiac arrhythmia, 617173 (3); Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3)
15.208 11 22 16 15q21.2 GLDN, CRGL2, LCCS11 P Gliomedin 608603 REc Lethal congenital contracture syndrome 11, 617194 (3)
15.209 8 28 02 15q21.2 SLC27A2, FACVL1, VLACS P Solute carrier family 27 (fatty acid transporter), member 2 (fatty acid CoA ligase, very long-chain 1) 603247 A
15.210 7 11 03 15q21.2 GABPB, BABPB2, GABPB1, E4TF1B, NRF2B1 C GA-binding protein transcription factor, beta subunit 600610 A
15.211 6 30 15 15q21.2 TNFAIP8L3, TIPE3 P Tumor necrosis factor-alpha-induced protein 8-like 3 616438 REc
15.212 1 29 01 15q21.1 TRIP15, SGN2, COPS2 P Thyroid hormone receptor interactor-15 604508 REc 2(Cops2)
15.213 9 26 17 15q21.2 USP8, HUMORF8, PITA4 P Ubiquitin-specific protease 8 603158 REc Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3)
15.214 1 11 07 15q21.3 CGNL1, FLJ14957, KIAA1749 C Cingulin-like 1 607856 REc, REn
15.215 1 9 14 15q21.3 ADAM10, MADM, RAK, AD18 P A disintegrin and metalloprotease domain 10 602192 R, REc Reticulate acropigmentation of Kitamura, 615537 (3); {Alzheimer disease 18, susceptibility to}, 615590 (3)
15.216 6 10 14 15q21.3 ALDH1A2, RALDH2 P Aldehyde dehydrogenase 1 family, member A2 (retinaldehyde dehydrogenase 2) 603687 R, REc
15.217 4 21 10 15q22.2 C2CD4B, NLF2 P C2 calcium-dependent domain containing 4B 610344 REc
15.218 4 2 16 15q21.3 CCPG1, KIAA1254, CPR8 P Cell cycle progression 1 611326 R, REc
15.219 4 10 02 15q22.2 GCNT3 C Glucosaminyl (N-acetyl) transferase 3, mucin-type 606836 Psh, R, A
15.220 7 1 11 15q21.3 LIPC, HL, LIPH, HDLCQ12 C Lipase C, hepatic 151670 REa, A [High density lipoprotein cholesterol level QTL 12], 612797 (3); {Diabetes mellitus, noninsulin-dependent}, 125853 (3); Hepatic lipase deficiency, 614025 (3) 9(Hl)
15.221 2 16 07 15q21.3 MNS1, FLJ11222 P Meiosis-specific nuclear structural protein 1 610766 REc
15.222 3 6 07 15q22.2 NARG2 C NMDA receptor-regulated 2 610835 REc, H pseudogenes on chr.4 and chr.3 9(narg2)
15.223 4 21 10 15q22.2 C2CD4A, NLF1 P C2 calcium-dependent domain containing 4A 610343 REc
15.224 3 4 10 15q21.3 PRTG P Protogenin, chicken, homolog of 613261 REc, H 9(Prtg)
15.225 3 23 09 15q21.3 RFX7, RFXDC2 P Regulatory factor X, 7 612660 REc
15.226 3 4 10 15q21.3 RSL24D1, RLP24 P Ribosomal protein L24 domain-containing protein 1 613262 REc
15.227 2 18 08 15q21.2 SCG3 P Secretogranin III 611796 REc
15.228 4 19 12 15q21.3 UNC13C P Unc13, C. elegans, homolog of, C 614568 REc
15.229 9 18 12 15q21.3 GUP, GCOM1, MYOZAP P GRINL1A complex locus upstream gene 614071 REc
15.230 7 11 14 15q21.3 WDR72, AI2A3 P WD repeat-containing protein 72 613214 REc Amelogenesis imperfecta, type IIA3, 613211 (3)
15.231 1 30 01 15q22.31 RAB11A P Ras family, member RAB11A 605570 R, A
15.232 3 17 06 15q21.3 AQP9 P Aquaporin 9 602914 R, REc
15.233 12 21 10 15q22.2 CA12 P Carbonic anhydrase XII 603263 A Hyperchlorhidrosis, isolated, 143860 (3)
15.234 5 26 05 15q22.31 CILP P Cartilage intermediate layer protein 603489 A {Lumbar disc disease, susceptibility to}, 603932 (3)
15.235 12 11 02 15q22.31 DPP8 P Dipeptidyl peptidase 8 606819 A
15.236 4 21 10 15q24.1 GOLGA6, GLP P Golgi autoantigen, golgin subfamily A, 6 610288 REc, A
15.237 4 18 02 15q23 PIAS1, DDXBP1, GBP P protein inhibitor of activated STAT, 1 603566 A
15.238 11 17 15 15q23 PKM, PKM2, PK3, THBP1 C Pyruvate kinase, muscle 179050 S, D, A 9(Pk3)
15.239 9 23 97 15q24.1 PML, MYL C Promyelocytic leukemia, inducer of 102578 Ch, RE fused with RARA in APL Leukemia, acute promyelocytic, PML/RARA type (3) 9(Pml)
15.240 10 11 10 15q23 SPESP1 P Sperm equatorial segment protein 1 609399 REc
15.241 1 31 13 15q22.31 SLC24A1, NCKX1, CSNB1D P Solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 603617 A, R Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3)
15.242 12 17 95 15q15.1 SRP14 P Signal recognition particle 14kD (homologous Alu RNA-binding protein) 600708 REa
15.243 12 7 03 15q24.1 STOML1, STORP P Stomatin-like protein 1 608326 A, REc
15.244 2 11 96 15q23 TLE3, ESG C Transducin-like enhancer of split 3, homolog of Drosophila a E(spl) 600190 REa, Psh, A
15.245 5 11 00 15q23 MYO9A P Myosin IXa 604875 R
15.246 3 3 09 15q22-q23 USH1H P Usher syndrome, type 1H 612632 Fd max lod at D15S980 Usher syndrome, type 1H (2)
15.247 3 14 14 15q22-q24 GLC1N P Glaucoma 1, open angle, N 611274 Fd max lod at D15S125 Glaucoma 1, open angle, N (2)
15.248 5 26 98 15q24.1 MPI, PMI1, CDG1B C Mannosephosphate isomerase (phosphomannose isomerase 1) 154550 S Congenital disorder of glycosylation, type Ib, 602579 (3) 9(Mpi1)
15.249 1 9 95 15q25.2 NMB C Neuromedin B 162340 REa, Psh
15.250 6 13 12 15q22.31 FBXL22, FBL22 P F-box and leucine-rich repeat protein 22 609088 REc 9(Fbxl22)
15.251 2 16 04 15q22.2 LACTB P Lactamase, beta 608440 R, REc 9(Lactb)
15.252 1 11 07 15q22.31 PAF, OEATC1, KIAA0101 C PCNA-associated factor, 15kD 610696 Psh, REc
15.253 9 18 12 15q21.3 POLR2M, GDOWN, GRINL1A P Polymerase II, RNA, subunit M 606485 A 9(Grinl1a)
15.254 9 9 13 15q22.2 TPM1, CMH3, CMD1Y , LVNC9 C Tropomyosin 1, alpha 191010 Fd, R Cardiomyopathy, hypertrophic, 3, 115196 (3); Cardiomyopathy, dilated, 1Y, 611878 (3); Left ventricular noncompaction 9, 611878 (3) 9(Tpm1)
15.255 3 20 16 15q22.2 VPS13C, KIAA1421, PARK23 P Vacuolar protein sorting 13, yeast, homolog of, C 608879 REc Parkinson disease 23, autosomal recessive, early onset, 616840 (3)
15.256 7 19 12 15q22.1-q22.2 RNF111 P Ring finger protein 111 605840 REc
15.257 7 9 06 15q22.31 CSNK1G1 P Casein kinase I, gamma-1 606274 A
15.258 6 10 09 15q22.2 APH1B P Anterior pharynx defective 1, C. elegans, homolog of, B 607630 R, REc
15.259 6 22 12 15q22.2 BNIP2, NIP2 P BCL2/adenovirus E1B 19kD protein-interacting protein 2 603292 REc
15.260 11 11 14 15q22.2 CCNB2 P Cyclin B2 602755 REc
15.261 10 2 12 15q22.2 GTF2A2, TF2A2 P General transcription factor IIA, gamma subunit 600519 REc pseudogenes on chr. 1, 8, 9
15.262 9 30 14 15q22.2 MIR190A P Micro RNA 190A 615845 REc
15.263 4 6 15 15q22.2 RAB8B P Ras-associated protein RAB8B 613532 REc
15.264 6 10 08 15q22.2 RPS27L P Ribosomal protein S27-like 612055 REc
15.265 7 18 14 15q22.2 TLN2, KIAA0320 C Talin 2 607349 R, REc
15.266 8 26 15 5q22.2 YTHDC2, CAHL P YTH domain-containing protein 2 616530 REc
15.267 4 18 05 15q22.31 SNX1, SNX1A P Sorting nexin 1 601272 R, REc
15.268 1 24 07 15q22.31 TIPIN P Timeless-interacting protein 610716 REc, H 9(Tipin)
15.269 4 18 05 15q22.31 USP3 P Ubiquitin-specific protease 3 604728 A
15.270 3 21 06 15q22.31 ZWILCH P Zwilch, Drosophila, homolog of 609984 R, REc
15.271 2 15 02 15q23 ANP32A, PHAP1 P Acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 600832 A
15.272 10 16 14 15q24.1 BBS4 C BBS4 gene 600374 Fd, LD, REc Bardet-Biedl syndrome 4, 615982 (3)
15.273 7 31 97 15q24.1 NEO1, NGN C Neogenin, chicken, homolog of, 1 601907 A
15.274 10 20 99 15q22.31 PUNC C Putative neuronal cell adhesion molecule 604184 A, REa, H 9(Punc)
15.275 12 23 05 15q24.1 UBL7 P Ubiquitin-like 7 609748 REc
15.276 2 2 14 15q22.31 CLPX C Caseinolytic mitochondrial matrix peptidase chaperone subunit 615611 R, REa, REc
15.277 9 28 15 15q22.31 DAPK2, DRP1 P Death-associated protein kinase 2 616567 REc
15.278 5 25 13 15q22.31 DENND4A P DENN/MADD domain containing 4A 600382 REc
15.279 8 25 11 15q22.31 DIS3L, DIS3L1, KIAA1955 P Dis3 mitotic control, S. cerevisiae, homolog-like 614183 REc
15.280 7 14 16 15q22.31 HERC1, MDFPMR P HECT domain and RCC1-like domain 1 605109 A, REc Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
15.281 2 12 16 15q22.31 IGDCC4, NOPE, KIAA1628 P Immunoglobulin superfamily, DCC subclass, member 4 616810 REc, H 9(Nope)
15.282 1 7 09 15q23 IQCH, NYDSP5 P IQ motif-containing protein H 612523 REc
15.283 8 2 13 15q22.31 KBTBD13, NEM6 P Kelch repeat and BTB/POZ domains-containing protein 13 613727 REc Nemaline myopathy 6, autosomal dominant, 609273 (3)
15.284 8 2 16 15q22.31 LCTL, KLG, KLPH P Lactase-like protein 617060 REc
15.285 12 24 08 15q22.31 MEGF11, KIAA1781 P Multiple epidermal growth factor-like domains 11 612454 REc
15.286 12 15 12 15q22.31 MTFMT, COXPD15 P Mitochondrial methionyl-tRNA formyltransferase 611766 R, REc Combined oxidative phosphorylation deficiency 15, 614947 (3)
15.287 5 25 13 15q22.31 OAZ2 P Ornithine decarboxylase antizyme 2 604152 REc
15.288 3 22 07 15q22.31 PDCD7 P Programmed cell death 7 608138 R, REc
15.289 5 21 07 15q22.31 PIF1, PIF P Pif1, S. cerevisiae, homolog of 610953 REc
15.290 8 18 14 15q22.31 PTPLAD1, BIND1, HACD3 P Protein tyrosine phosphatase-like A domain-containing protein 1 615940 REc
15.291 6 24 08 15q22.31 RNU5A, RNU5 P RNA, U5A small nuclear 180691 REc
15.292 9 6 12 15q22.33 SMAD3, MADH3, LDS3 P Mothers against decapentaplegic, Drosophila, homolog of, 3 603109 REa, REc Loeys-Dietz syndrome 3, 613795 (3)
15.293 10 2 12 15q22.31 SNAPC5, SNAP19 P Small nuclear RNA-activating protein complex, polypeptide 5 605979 REc
15.294 8 10 16 15q22.31 TRIP4, ASC1, SMABF1, MDCDC P Thyroid hormone receptor interactor 4 604501 REc mutation identified in 1 MDCDC family Spinal muscular atrophy with congenital bone fractures 1, 616866 (3); ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3)
15.295 5 8 17 15q22.31 ZNF609, KIAA0295 P Zinc finger ptoein 609 617474 REc, H 9(Zfp609)
15.296 2 17 09 15q22.32 STQTL16 P Stature quantitative trait locus 16 612579 Fd associated with rs8038652 {Stature QTL 16} (2)
15.297 12 12 12 15q23 AAGAB, p34, PPKP1A, PPKP1, KPPP1 P Alpha- and gamma-adaptin-binding protein 614888 REc, Fd Keratoderma, palmoplantar, punctate type IA, 148600 (3)
15.298 10 13 09 15q23 CORO2B, CLIPINC P Coronin 2B 605002 R, REc
15.299 6 1 15 15q23 DRAIC P Downregulated RNA in androgen-independent cells, noncoding 616387 REc
15.300 7 29 15 15q23 EWSAT1, LINC00277 P Ewing sarcoma-associated transcript 1, noncoding 616492 REc
15.301 9 9 08 15q24.2 FBXO22, FBX22 P F-box only protein 22 609096 REc 9(Fbxo22)
15.302 8 27 15 15q23 FEM1B, KIAA0396 C Fem1, C. elegans, homolog of, B 613539 R, REc 9(Fem1b)
15.303 8 18 08 15q23 GLCE, HSEPI, KIAA0836 P Glucuronic acid epimerase 612134 R, REc
15.304 4 6 00 15q23 ITGA11 C Integrin, alpha-11 604789 A, REa
15.305 3 2 06 15q23 KIF23, KNSL5, MKLP1 P Kinesin family member 23 605064 R, REc
15.306 3 23 14 15q23 LARP6, ACHN P La ribonucleoprotein domain family, member 6 611300 REc
15.307 6 10 09 15q23 LBXCOR1, CORL1 P LBX1 corepressor 1, mouse, homolog of 611273 REc
15.308 6 10 09 15q23 MAP2K5, PRKMK5, MEK5, MAPKK5 P Mitogen-activated protein kinase kinase 5 602520 REc
15.309 1 24 13 15q23 NOX5 C NADPH oxidase 5 606572 REc
15.310 7 9 07 15q23 NR2E3, PNR, ESCS, RP37 C Nuclear receptor subfamily 2, group E, member 3 604485 A, R near BBS4 Enhanced S-cone syndrome, 268100 (3); Retinitis pigmentosa 37, 611131 (3) 9(rd7)
15.311 4 19 12 15q23 PAQR5, MPRG P Progestin and ADIPOQ receptor family, member 5 607781 REc
15.312 3 23 15 15q23 PCAT29 P Prostate cancer-associated transcript 29, noncoding 616273 REc
15.313 6 10 98 15q24.3 RCN2, ERC55 C Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD) 602584 R, A
15.314 6 24 08 15q23 RNU6-1, RNU6A, RNU6 P RNA, U6 small nuclear 1 180692 REc
15.315 2 25 11 15q24.2 SCAMP5 P Secretory carrier membrane protein 5 613766 REc
15.316 6 13 12 15q23 SENP8, NEDP1, DEN1 P Sentrin-specific protease family, member 8 608659 REc
15.317 1 20 09 15q23 THAP10 P THAP domain-containing protein 10 612538 REc
15.318 2 21 12 15q23 THSD4, ADAMTSL6 P Thrombospondin type-1 domain-containing 4 614476 REc 9(Thsd4)
15.319 10 13 09 15q24.2 UBE2Q2, LOC92912 P Ubiquitin-conjugating enzyme E2Q 2 612501 REc
15.320 12 1 11 15q25.1 ACSBG1, BG, BG1, KIAA0631 C Acyl-CoA synthetase, bubble gum family, member 1 614362 R, REc
15.321 3 23 09 15q24.1 CD276, B7H3 P CD276 molecule 605715 REc 9(B7h3)
15.322 5 7 02 15q23 HEXA, TSD C Hexosaminidase A, alpha polypeptide 606869 S, D, A on 15q+ in APL Tay-Sachs disease, 272800 (3); GM2-gangliosidosis, several forms, 272800 (3); [Hex A pseudodeficiency], 272800 (3) 9(Hexa)
15.323 6 9 98 15q24.1 ISLR P Immunoglobulin superfamily containing leucine-rich repeat 602059 A
15.324 8 14 92 15q24.1 CSK P c-src tyrosine kinase 124095 A
15.325 8 25 03 15q24.2-q24.3 ETFA, GA2, MADD C Electron transfer flavoprotein, alpha polypeptide 608053 REa, A Glutaric acidemia IIA, 231680 (3) 13(Etfa)
15.326 4 30 91 15q25.1 FAH C Fumarylacetoacetase 613871 A, REa Tyrosinemia, type I, 276700 (3)
15.327 10 29 09 15q23-q26.3 GLM4 P Glioma susceptibility 4 607248 Fd max lod at D15S130 {Glioma susceptibility 4} (2)
15.328 2 15 18 15q26.3 ADAMTS17, WMS4 P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 17 607511 REc Weill-Marchesani 4 syndrome, recessive, 613195 (3)
15.329 12 24 08 15q24.1 ARID3B, DRIL2, BDP P AT-rich interactive domain-containing protein 3B 612457 REc
15.330 3 1 01 15q24.1 ARIH1, ARI, UBCH7BP C Ariadne, Drosophila, homolog of, 1 605624 R, A
15.331 8 12 14 15q25.1 ARNT2, WEDAS C Aryl hydrocarbon receptor nuclear translocator 2 606036 R mutation identified in 1 WEDAS family ?Webb-Dattani syndrome, 615926 (3)
15.332 8 2 13 15q23 CELF6, BRUNOL6 P CUGbp- and ELAV-like family, member 6 612681 REc
15.333 8 4 97 15q25.1 CRABP1, RBP5 C Cellular retinoic acid-binding protein-1 180230 REa, Ch, A distal to APL breakpoint 9(Rbp5)
15.334 7 5 92 15q25.1 CHRNB4 C Cholinergic receptor, neuronal nicotinic, beta polypeptide-4 118509 REa, H, A, REn 9(Acrb4)
15.335 10 17 12 15q25.1 CIB2, KIP2 C Calcium- and integrin-binding protein 2 605564 R, A Deafness, autosomal recessive 48, 609439 (3); Usher syndrome, type IJ, 614869 (3)
15.336 6 15 99 15q24.1 CLK3 C CDC-like kinase 3 602990 Psh, A
15.337 11 11 98 15q24 ENFL2 P Epilepsy, nocturnal frontal lobe, type 2 603204 Fd some ENFL not on 20q or 15q Epilepsy, nocturnal frontal lobe, type 2 (2)
15.338 1 8 01 15q24.3 HMG20A C High mobility group protein 20A 605534 REc, A, R
15.339 9 2 09 15q24.2 IMP3, MRPS4, BRMS2 P Imp3, S. cerevisiae, homolog of 612980 REc
15.340 1 27 04 15q25.1 KIAA1199 P KIAA1199 gene 608366 REc
15.341 12 23 05 15q24.3 LRRN6A, LERN1, LINGO1 P Leucine-rich repeat protein, neuronal, 6A 609791 REc, A
15.342 6 6 03 15q25.1 MORF4L1, MRG15 P Mortality factor 4-like 1 607303 A
15.343 6 11 98 15q24 MRST P Mental retardation, severe, with spasticity and tapetoretinal degeneration 602685 Fd Mental retardation, severe, with spasticity and tapetoretinal degeneration (2)
15.344 2 18 08 15q24.3 SCAPER, KIAA1454 C S-phase cyclin A-associated protein in the endoplasmic reticulum 611611 R, REc
15.345 8 9 99 15q25.2 SH3GL3 P SH3-domain GRB2-like 3 603362 Psh, A
15.346 8 17 16 15q24.2 SIN3A, WITKOS P Sin3, yeast, homolog of, A 607776 A Witteveen-Kolk syndrome, 613406 (3)
15.347 1 6 09 15q23 UACA, NUCLING P Uveal autoantigen with coiled-coil domains and ankyrin repeats 612516 REc
15.348 6 13 02 15q25.3 AKAP13, HT31, LBC, BRX C A-kinase anchor protein 13 604686 A
15.349 12 3 08 15q24-q25 CILD8 P Ciliary dyskinesia, primary, 8 612274 Fd max lod at D15S154 Ciliary dyskinesia, primary, 8 (2)
15.350 1 9 94 15q25.1 CTSH P Cathepsin H 116820 REa, A 9(Ctsh)
15.351 12 2 09 15q24.1 HCN4, SSS2 P Hyperpolarization-activated cyclic nucleotide-gated potassium channel 4 605206 A Sick sinus syndrome 2, 163800 (3); Brugada syndrome 8, 613123 (3)
15.352 3 5 08 15q25.3 MRPL46 P Mitochondrial ribosomal protein L46 611851 R, REc
15.353 5 3 04 15q24.3 PSTPIP1, PSTPIP, CD2BP1, PAPAS C Proline-serine-threonine phosphatase-interacting protein 1 606347 R, Fd Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3)
15.354 12 27 01 15q25.2 TM6SF1 P Transmembrane 6 superfamily, member 1 606562 REc
15.355 2 26 08 15q24.1 ADPGK P ADP-dependent glucokinase 611861 R, REc 9(Adpgk)
15.356 9 26 16 15q24.1 C15orf59, INSYN1 P Chromosome 15 open reading frame 59 617128 REc
15.357 4 28 10 15q24.1 CYP1A1, CYP1 C Cytochrome P450, subfamily I, aromatic compound-inducible, polypeptide 1 108330 S, REa, H head-to-head with CYP1A2 9(Cyp1a1)
15.358 4 28 10 15q24.1 CYP1A2 C Cytochrome P450, subfamily I, aromatic compound-inducible, polypeptide 2 124060 REa, H, REc 23.3kb from CYP1A1 9(Cyp1a2)
15.359 10 7 13 15q24.1 CYP11A1, P450SCC C Cytochrome P450, subfamily XIA, polypeptide 1 (cholesterol side chain cleavage enzyme) 118485 REa, H, A, Fd Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) 9(Cyp11a)
15.360 7 13 15 15q24.1 EDC3, YJDC, MRT50 P Enhancer of mRNA decapping 3, S. cerevisiae, homolog of 609842 REc mutation identified in 1 MRT50 family ?Mental retardation, autosomal recessive 50, 616460 (3)
15.361 9 6 11 15q24.1 ISLR2, LINX, KIAA1464 C Immunoglobulin superfamily containing leucine-rich repeat 2 614179 REc, Psh
15.362 2 9 16 15q24.1 LOXL1, LOXL C Lysyl oxidase-like 1 153456 A, H, REc {Exfoliation syndrome, susceptibility to}, 177650 (3) 9(Loxl1)
15.363 2 9 16 15q24.1 LOXL1AS1 P LOXL1 antisense RNA 1 616800 REc
15.364 1 29 13 15q24.1 NPTN, SDFR1, GP55, NP55, GP65, NP65 C Neuroplastin 612820 R, REc
15.365 4 17 13 15q24.1 NPTNIT1 P NPTN intronic transcript 1, noncoding 615176 REc
15.366 4 17 07 15q24.2 NRG4, HRG4 P Neuregulin 4 610894 R, REc
15.367 9 13 17 15q24.1 SEMA7A, SEMAL, SEMAK1, CDW108, JMH C Semaphorin 7A 607961 A, REc [Blood group, John-Milton-Hagen system], 614745 (3) 9(Sema7a)
15.368 11 30 12 15q24.1 STRA6, MCOPS9, MCOPCB8 P Stimulated by retinoic acid 6, mouse, homolog of 610745 REc, R Microphthalmia, syndromic 9, 601186 (3); Microphthalmia, isolated, with coloboma 8, 601186 (3)
15.369 9 29 10 15q24.1 ULK3 P UNC51-like kinase 3 613472 REc
15.370 12 22 15 15q24.2 COMMD4 P COMM domain-containing protein 4 616701 REc
15.371 4 27 12 15q24.2 CSPG4, MCSPG, MSK16, NG2 P Chondroitin sulfate proteoglycan 601172 REa, REc
15.372 9 16 12 15q24.2 NEIL1, NEI1, FPG1 P Endonuclease VIII-like 1 608844 REc
15.373 3 20 06 15q24.2 PPCDC P Phosphopantothenoylcysteine decarboxylase 609854 REc
15.374 5 25 13 15q24.2 PTPN9 P Protein-tyrosine phosphatase, nonreceptor-type, 9 600768 REc
15.375 6 9 98 15q25.1 BCL2A1 P BCL2-related protein A1 601056 REa, A 9(Bcl2a1)
15.376 12 21 15 15q25.2 HOMER2, HOMER2B, HOMER2A, DFNA68 P Homer, homolog 2 (Drosophila) 604799 R, REc mutation identified in 1 DFNA68 family ?Deafness, autosomal dominant 68, 616707 (3)
15.377 9 26 11 15q24.3 PEAK1, KIAA2002 P Pseudopodium-enriched atypical kinase 1 614248 REc
15.378 12 2 09 15q24.3 TSPAN3 P Tetraspanin 3 613134 REc
15.379 6 14 99 15q24.2 COX5A P Cytochrome C oxidase, subunit Va 603773 A, R pseudogene on 14q22
15.380 10 26 11 15q25 DEL15q25, C15DELq25 P Chromosome 15q25 deletion syndrome 614294 Ch chr15:82,889,423-83,552,890, NCBI36 Chromosome 15q25 deletion syndrome (4)
15.381 11 20 15 15q25.2 HRP3, HDGFRP3 P Hepatoma-derived growth factor-related protein 3 616643 A
15.382 6 2 98 15q26.1 MAN2A2, MANA2X P Mannosidase, alpha-, type II, isozyme X 600988 A
15.383 6 14 99 15q26.1 MFGE8 P Milk fat globule-EGF factor 8 602281 A
15.384 4 23 08 15q25.3 MRPS11 P Mitochondrial ribosomal protein S11 611977 R, REc
15.385 10 19 97 15q25.3 NTRK3, TRKC C Neurotrophic tyrosine kinase, receptor, type 3 191316 Psh, A
15.386 3 25 16 15q26.1 POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS P Polymerase (DNA directed), gamma 174763 A PEO also digenic with C10orf2 Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3); Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3); Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3); Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) 7(Polg)
15.387 11 6 00 15q26.1 RHCG, RHGK P Rhesus blood group-associated kidney homolog 605381 A
15.388 12 16 93 15q26.1 ANPEP, PEPN, CD13 C Alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150) 151530 REa, A
15.389 11 13 01 15q25-q26 DFNA30 P Deafness, autosomal dominant 30 606451 Fd Deafness, autosomal dominant 30 (2)
15.390 8 21 07 15q26.1 FANCI, KIAA1794 P FANCI gene 611360 REc Fanconi anemia, complementation group I, 609053 (3)
15.391 12 23 02 15q26.1 FURIN, PACE, FUR, PCSK3 C Furin (paired basic amino acid cleaving enzyme) 136950 RE less than 1.1kb 5' to FES 7(Fur, Pcsk3)
15.392 4 30 09 15q26.3 IGF1R C Insulin-like growth factor-1 receptor 147370 REa, A, D Insulin-like growth factor I, resistance to, 270450 (3) 7(Igf1r)
15.393 8 30 01 15q25.3 SLC28A1, CNT1 P Solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 606207 A
15.394 5 12 08 15q26.1 UNC45A, SMAP1, GCUNC45 P UNC45, C. elegans, homolog of, A 611219 REc, R, H 7(Unc45a)
15.395 3 22 13 15q25.1 ADAMTS7 P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 7 605009 REa, REc
15.396 12 7 12 15q25.1 AGPHD1 P Aminoglycoside phosphotransferase domain-containing protein 1 614681 REc
15.397 6 7 04 15q25.2 BNC1 C Basonuclin 601930 Psh, REc
15.398 5 28 09 15q25.1 CHRNA3, LNCR2, PAOD2 C Cholinergic receptor, neuronal nicotinic, alpha polypeptide-3 118503 REa, H, A, REn {Lung cancer susceptibility 2}, 612052 (3) 9(Acra3)
15.399 4 27 12 15q25.1 CHRNA5, LNCR2 C Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5 118505 REa, H, Fd, A {Lung cancer susceptibility 2}, 612052 (3); {Nicotine dependence, susceptibility to}, 612052 (3) 9(Acra5)
15.400 10 16 09 15q25.1 IREB2 P Iron-responsive element-binding protein-2 147582 REa, REc
15.401 12 10 13 15q25.1 MESDC1 P Mesoderm development candidate 1 615466 R, REc, H 7(Mesdc1)
15.402 5 4 12 15q25.1 MIR184, MIRN184, KTCNCT, EDICT P Micro RNA 184 613146 REc EDICT syndrome, 614303 (3) 9(Mir184)
15.403 5 25 13 15q25.1 MTHFS P 5,10-methenyltetrahydrofolate synthetase 604197 REc
15.404 12 17 07 15q25.1 PSMA4, PSC9, HC9 P Proteasome subunit, alpha-type, 4 176846 R, REc
15.405 11 23 15 15q25.1 TMC3 C Transmembrane channel-like protein 3 617196 REc 7(Tmc3)
15.406 1 16 07 15q25.1 ZFAND6, ZA20D3, AWP1 P Zinc finger AN1 domain-containing protein 6 610183 REc
15.407 4 9 96 15q25.1 IDH3A P Isocitrate dehydrogenase 3 (NAD+) alpha 601149 A
15.408 11 11 12 15q25.1-q26.1 POROK4, DSAP2 P Porokeratosis 4, disseminated superficial actinic 607728 Fd between D15S1023 and D15S1030 Porokeratosis 4, disseminated superficial actinic (2)
15.409 5 27 09 15q25.2 ADAMTSL3, KIAA1233 P ADAMTS-like protein 3 609199 REc, H 7(Adamtsl3)
15.410 8 7 17 15q25.3 ALPK3, MIDORI, KIAA1330 P Alpha kinase 3 617608 REc
15.411 1 11 17 15q25.2 AP3B2, NAPTB, EIEE48 C Adaptor-related protein complex 3, beta 2 subunit 602166 H, REc Epileptic encephalopathy, early infantile, 48, 617276 (3) 7(Naptb)
15.412 5 25 13 15q25.2 CPEB1 P Cytoplasmic polyadenylation element-binding protein 1 607342 REc
15.413 3 26 18 15q25.2 EFL1, RIA1, EFTUD1, FAM42A P Elongation factor-like GTPase 1 617538 REc
15.414 4 2 12 15q25.2 FAM103A1, RAM P Family with sequence similarity 103, member A1 614547 REc
15.415 8 20 07 15q25.2 MEX3B, RKHD3 P Mex-3, C. elegans, homolog of, B 611008 REc
15.416 5 24 13 15q25.2 SCAND2 P SCAN domain-containing 2 610417 REc, A
15.417 3 31 09 15q25.2 SCARNA15, ACA45 P Small cajal body-specific RNA 15 612675 REc
15.418 11 13 17 15q25.2 WDR73, HSPC264, GAMOS1 P WD repeat-containing protein 73 616144 REc Galloway-Mowat syndrome 1, 251300 (3)
15.419 4 21 16 15q25.2 WHAMM, KIAA1971 P Was protein homolog associated with actin, golgi membranes, and microtubules 612393 REc
15.420 11 19 13 15q25.3 AGBL1, CCP4, FECD8 C ATP/GTP-binding protein-like 1 615496 REc, REn Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
15.421 5 23 14 15q26.1 DET1 P De-etiolated 1, Arabidopsis, homolog of 608727 REc
15.422 9 1 15 15q25.3 ZNF592, KIAA0211 P Zinc finger protein 592 613624 Fd, REc
15.423 2 21 06 15q25.3-q26.1 CHNG3, RTSH P Hypothyroidism, congenital, nongoitrous, 3 609893 Fd max lod at D15S655 Hypothyroidism, congenital, nongoitrous, 3 (2)
15.424 12 18 01 15q26.1 CIB, KIP P Calcium- and integrin-binding protein (kinase-interacting protein) 602293 Psh, R, A
15.425 5 21 07 15q25.3 PDE8A P Phosphodiesterase 8A 602972 REc
15.426 6 7 04 15q25.3-q26.2 MDD2 P Major depressive disorder 2 608691 Fd Major depressive disorder 2, 608516 (2)
15.427 3 15 13 15q26.3 ALDH1A3, ALDH6, MCOP8 P Aldehyde dehydrogenase 1 family, member A3 600463 A Microphthalmia, isolated 8, 615113 (3)
15.428 8 19 13 15q26.1 CHD2, EEOC P Chromodomain helicase DNA binding protein-2 602119 R Epileptic encephalopathy, childhood-onset, 615369 (3)
15.429 12 4 90 15q14 CHRM5 P Cholinergic receptor, muscarinic, 5 118496 A, REa
15.430 12 9 98 15q26 IDDM3 C Insulin-dependent diabetes mellitus-3 600318 Fd {Diabetes mellitus, insulin-dependent, 3} (2)
15.431 2 6 01 15q26.1 IQGAP1, SAR1 C RASGAP-like with IQ motifs (sar1, S. pombe, homolog of) 603379 REa, REc amplified in gastric cancer
15.432 2 7 01 15q26.1 ISG20, HEM45 P Interferon-stimulated gene, 20kD 604533 A
15.433 3 23 14 15q26.3 LINS1, WINS1, FLJ10583, MRT27 P Lines, Drosophila, homolog of, 1 610350 REc, Fd Mental retardation, autosomal recessive 27, 614340 (3)
15.434 12 3 03 15q26.3 MEF2A, ADCAD1 C MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A) 600660 A, REa {Coronary artery disease, autosomal dominant, 1}, 608320 (3) 7(Mef2a)
15.435 4 25 93 15q26.3 PCSK6, PACE4, SPC4 C Proprotein convertase subtilisin/kexin type 6 167405 REa, A 7(Pcsk6)
15.436 4 16 11 15q26.1 PLIN1, PLIN, FPLD4 C Perilipin 1 170290 A, H Lipodystrophy, familial partial, type 4, 613877 (3) 7(Plin)
15.437 4 2 09 15q26.1 RLBP1 P Retinaldehyde-binding protein-1, cellular 180090 REa, A Fundus albipunctatus, 136880 (3); Retinitis punctata albescens, 136880 (3); Newfoundland rod-cone dystrophy, 607476 (3); Bothnia retinal dystrophy, 607475 (3) 7(Rlbp1)
15.438 12 4 08 15q26.1 SLCO3A1, OATPD, OATP3A1 C Solute carrier organic anion transporter family, member 3A1 612435 R, REn
15.439 6 28 02 15q25.1 STARD5 P Start domain-containing protein 5 607050 REc
15.440 7 13 98 15q26.1 STX P Sialyltransferase X 602546 A
15.441 12 26 14 15q26 VVS P Syncope, familial vasovagal 609289 Fd Syncope, familial vasovagal (2)
15.442 3 19 09 15q26-qter DEL15q26qter, C15DELq26qter P Chromosome 15q26-qter deletion syndrome 612626 Ch contiguous gene deletion syndrome Chromosome 15q26-qter deletion syndrome (4)
15.443 10 25 12 15q26-qter LVSKS P Levy-Shanske syndrome (tetrasomy 15q26) 614846 Ch Levy-Shanske syndrome (4)
15.444 8 29 08 15q26.1 ABHD2, LABH2 P Abhydrolase domain-containing 2 612196 REc 16(Abhd2)
15.445 10 11 17 15q26.1 ACAN, AGC1, CSPG1, MSK16, SEDK, SSOAOD C Aggrecan (chondroitin sulfate proteoglycan-1, large aggregating proteoglycan, antigen identifies by monoclonal antibody A0122) 155760 S, A, Fd mutation identified in 1 SEDK family and 1 SEMDAG family ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3); ?Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3); Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3) 7(Agc1)
15.446 10 1 17 15q26.1 AP3S2 P Adaptor-related protein complex 3, sigma-2 subunit 602416 REc
15.447 11 27 13 15q26.1 C15orf38, ARPIN P Chromosome 15 open reading frame 38 615543 REc
15.448 3 16 10 15q26.1 C15orf42, TRESLIN P Treslin 613298 REc
15.449 10 27 08 15q26.1 CRTC3, TORC3 P CREB-regulated transcription coactivator 3 608986 R, REc
15.450 12 29 05 15q26.1 DIH1, HCD P Hernia, congenital diaphragmatic 1 142340 Ch Hernia, congenital diaphragmatic 1 (2)
15.451 7 13 93 15q26.1 FES C Oncogene FES, feline sarcoma virus 190030 S, A 7(Fes)
15.452 12 14 10 15q26.1 IDH2, IDPM, D2HGA2 C Isocitrate dehydrogenase, mitochondrial 147650 S, A D-2-hydroxyglutaric aciduria 2, 613657 (3) 7(Idh2)
15.453 6 16 06 15q26.1 ISG20L1, AEN P Interferon-stimulated exonuclease gene 20kD-like 1 610177 R, REc
15.454 11 3 99 15q25.1 IL16, LCF P Interleukin 16 603035 Psh, A 7(Il16)
15.455 1 21 16 15q26.1 KIF7, HLS2, ACLS, JBTS12, AGBK P Kinesin family member 7 611254 REc mutation identified in 1 HLS2 family and 1 AGBK family ?Hydrolethalus syndrome 2, 614120 (3); Acrocallosal syndrome, 200990 (3); Joubert syndrome 12, 200990 (3); ?Al-Gazali-Bakalinova syndrome, 607131 (3)
15.456 10 13 15 15q26.1 MESP1 P Mesoderm posterior bHLH transcription factor 1 608689 REc
15.457 6 4 04 15q26.1 MESP2, SCDO2 P Mesoderm posterior bHLH transcription factor 2 605195 REc Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
15.458 3 23 09 15q26.1 MIR9-3, MIRN9-3 P Micro RNA 9-3 611188 REc
15.459 12 23 15 15q26.1 NGRN P Neurite outgrowth-associated protein 616718 REc
15.460 10 25 12 15q26.1 PEX11A P Peroxisome biogenesis factor 11A 603866 R, REc
15.461 5 29 10 15q26.1 PRC1 P Protein regulating cytokinesis 1 603484 REc
15.462 8 12 03 15q26.1 RECQL3, RECQ2, BLM, BS C DNA helicase, RecQ-like 3 604610 M, LD Bloom syndrome, 210900 (3)
15.463 2 28 03 15q26.1 RGMA P RGM domain family, member A (repulsive guidance molecule) 607362 REc 4(Ephb2)
15.464 7 14 16 15q26.1 SEMA4B P Semaphorin 4B 617029 REc
15.465 5 24 13 15q26.1 SV2B, KIAA0735 P Synaptic vesicle glycoprotein 2B 185861 REc, R
15.466 7 8 10 15q26.1 VPS33B P Vacuolar protein sorting 33, yeast, homolog of, B 608552 R Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
15.467 5 22 14 15q26.2 NR2F2, TFCOUP2, ARP1, CHTD4 P Nuclear receptor subfamily 2, group F, member 2 (transcription factor COUP 2) 107773 REa, A Congenital heart defects, multiple types, 4, 615779 (3) 7(Tcfcoup2)
15.468 4 8 98 15q26.1-qter OTSC1, OTS P Otosclerosis 1 166800 Fd Otosclerosis 1 (2)
15.469 4 7 15 15q26.2 MCTP2 C Multiple C2 domains-containing transmembrane protein 2 616297 REc
15.470 5 3 11 15q26.2 SPATA8, SRG8 P Spermatogenesis-associated protein 8 613948 REc
15.471 1 31 13 15q26.3 ASB7 P Ankyrin repeat- and SOCS box-containing protein 7 615052 REc
15.472 7 9 13 15q26.3 CERS3, LASS3, ARCI9 C Ceramide synthase 3 615276 REc, Fd Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
15.473 2 24 11 15q26.3 CHSY1, KIAA0990, TPBS P Carbohydrate synthase 1 608183 REc, R Temtamy preaxial brachydactyly syndrome, 605282 (3)
15.474 4 27 07 15q26.3 LRRK1 P Leucine-rich repeat kinase 1 610986 REc
15.475 11 17 16 15q26.3 SELENOS, SEPS1, SELS, VIMP, ADO15 P Selenoprotein S 607918 REc
15.476 8 22 07 15q26.3 SNRPA1 C Small nuclear ribonucleoprotein polypeptide A' 603521 R, Psh, A 7(Snrpa1)
15.477 4 19 06 15q26.3 TM2D3, BLP2 P TM2 domain-containing protein 3 610014 R, REc
15.478 1 30 01 15q21.2 ARPP19, ARPP16 P cAMP-regulated phosphoprotein, 19kD 605487 R
15.479 1 31 01 15q14 AVEN P Cell death regulator AVEN 605265 REc
15.480 7 12 02 15q15.2 CCNDBP1, GCIP P Cyclin D-type-binding protein 1 607089 R
15.481 4 26 90 Chr.15 COL1AR P Collagen I, alpha, receptor 120340 S
15.482 3 3 03 15q15.1 DISPB, KIAA1742 P Dispatched, Drosophila, homolog of, B 607503 R
15.483 7 11 01 15q26.3 DMN P Desmuslin 606087 R
15.484 1 24 93 15q21.1-q21.2 GALK2, GK2 P Galactokinase-2 137028 Psh
15.485 5 22 03 15q25.1 MESDC2, MESD, BOCA, KIAA0081 P Mesoderm development candidate gene 2 607783 Psh, H 7(Mesdc2)
15.486 7 11 01 15q15.1 PLA2G4B P Phospholipase A2, group IVB 606088 REc
15.487 4 15 02 15q23 RPLP1 P Ribosomal phosphoprotein, Large, P1 180520 R
15.488 5 13 02 15q24.1 SCAMP2 P Secretory carrier membrane protein 2 606912 R
16.1 10 26 99 16p13.3 SYNGR3 P Synaptogyrin 3 603927 A
16.2 8 3 11 16p13.3 HBA1, HBH C Hemoglobin alpha-1 141800 HS 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' Thalassemias, alpha-, 604131 (3); Methemoglobinemias, alpha- (3); Erythremias, alpha- (3); Heinz body anemias, alpha-, 140700 (3); Hemoglobin H disease, nondeletional, 613978 (3) 11(Hba)
16.3 8 30 11 16p13.3 HBA2, HBH C Hemoglobin alpha-2 141850 HS Thalassemia, alpha-, 604131 (3); Heinz body anemia, 140700 (3); Erythrocytosis (3); Hypochromic microcytic anemia (3); Hemoglobin H disease, nondeletional, 613978 (3) 11(Hba)
16.4 1 12 89 16p13.3 HBQ1 P Hemoglobin theta-1 142240 RE
16.5 7 17 91 16p13.3 HBZ P Hemoglobin, zeta 142310 RE
16.6 6 11 93 16pter-p13.3 HBHR, ATR1 C Alpha-thalassemia/mental retardation syndrome, type 1 141750 Fd, RE, D contiguous gene syndrome involving deletion of HBA1 and HBA2 Alpha-thalassemia/mental retardation syndrome, type 1 (4)
16.7 10 15 95 16p13.3 MPG, MDG P N-methylpurine DNA glycosylase 156565 REa, REn 75kb upstream of HBZ 11(Mpg)
16.8 2 28 03 16pter-p13 CHDS1 P Coronary heart disease, susceptibility to, 1 607339 Fd {Coronary heart disease, susceptibility to} (2)
16.9 1 26 97 16p13.3 ZNF75A P Zinc finger protein-75A 601473 REa
16.10 12 21 09 16p13.2 ABAT, GABAT P 4-aminobutyrate aminotransferase 137150 R GABA-transaminase deficiency, 613163 (3)
16.11 5 21 07 16p13.3 ABCA3, ABC3, SMDP3 P ATP-binding cassette-3 601615 REc Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
16.12 11 20 98 16p13.3 ADCY9 P Adenylate cyclase-9 603302 A 16(Adcy9)
16.13 8 24 04 16p13.3 ALG1, HMAT1, HMT1, CDG1K P Alg1, yeast, homolog of (beta-1,4 mannosyltransferase) 605907 REc Congenital disorder of glycosylation, type Ik, 608540 (3)
16.14 1 26 17 16p13.3 ANKS3 P Ankyrin repeat and sterile alpha motif domains-containing protein 3 617310 REc
16.15 1 8 15 16p13.3 AXIN1, AXIN P Axis inhibitor 1 603816 REc hypermethylation of AXIN1 promoter seen in 1 CDUP patient Hepatocellular carcinoma, somatic, 114550 (3); ?Caudal duplication anomaly, 607864 (3)
16.16 7 18 02 16p13.3 ATP6V0C, ATP6L, ATP6C P ATPase, H+ transporting, lysosomal, 16kD, V0 subunit c 108745 REc
16.17 10 26 99 16p13.3 BAIAP3, BAP3 C BAI1-associated protein 3 604009 A, R
16.18 6 26 16 16p13.3 BICDL2, BICDR2, CCDC64B P BICD family-like cargo adaptor 2 617003 REc
16.19 8 5 11 16p13.3 C1QTNF8, CTRP8 P C1q- and tumor necrosis factor-related protein 8 614147 REc
16.20 10 30 06 16p13.3 C16orf5 P Chromosome 16 open reading frame 5 610503 A, Psh
16.21 7 14 16 16p13.3 CACNA1H, EIG6, ECA6, HALD4 P Calcium channel, voltage-dependent, T type, alpha-1H subunit 607904 R, A {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3); {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3); Hyperaldosteronism, familial, type IV, 617027 (3) 17(Cacna1h)
16.22 8 29 08 16p13.3 CASKIN1, KIAA1306 P CASK-interacting protein 1 612184 R, REc
16.23 11 7 17 16p13.3 CCDC78, C16orf25, CNM4 P Coiled-coil domain-containing protein 78 614666 REc mutation identified in 1 CNM4 family ?Centronuclear myopathy 4, 614807 (3)
16.24 1 12 95 16p13.3 CCNF, FBX1 P Cyclin F 600227 REn 17(Ccnf)
16.25 8 30 07 16p13.3 CEMP1, CP23 P Cementum protein 1 611113 R, REc
16.26 2 2 10 16p13.3 CHTF18, CHL12, CTF18 P Chromosome transmission fidelity factor 18, S. cerevisiae, homolog of 613201 REc
16.27 6 22 14 16p13.3 CLDN6 P Claudin 6 615798 REc
16.28 6 22 14 16p13.3 CLDN9 P Claudin 9 615799 REc
16.29 10 13 09 16p13.3 CORO7, POD1, CRN7 P Coronin 7 611668 REc
16.30 2 8 17 16p13.3 CREBBP, CBP, RSTS1 C CREB binding protein 600140 A, Ch 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)
16.31 7 18 14 16p13.3 DECR2, PDCR P 2,4-dienoyl-CoA reductase 2, peroxisomal 615839 REc
16.32 1 27 04 16p13.3 DNAJA3, TID1 P DNAJ, E. coli, homolog of, subfamily A, member 3 608382 REc
16.33 5 26 05 16p13.3 DNASE1, DNL1 P Deoxyribonuclease I 125505 Psh {Systemic lupus erythematosus, susceptibility to}, 152700 (3)
16.34 9 9 10 16p13.3 DUP16p13.3, C16DUPq13.3 P Chromosome 16p13.3 duplication syndrome 613458 Ch contiguous gene duplication syndrome Chromosome 16p13.3 duplication syndrome (4)
16.35 9 10 98 16p13.3 E4F1, E4F C E4F transcription factor 1 603022 REc, Psh, A 17(E4fl)
16.36 7 18 14 16p13.3 ECI1, DCI P Enoyl-CoA delta isomerase 1 600305 Psh, A
16.37 12 18 14 16p13.3 EEF2KMT, FAM86A P Eukaryotic elongation factor 2 lysine methyltransferase 615263 REc
16.38 4 17 07 16p13.3 EME2 P Essential meiotic endonuclease 1, S. pombe, homolog of, 2 610886 REc
16.39 4 22 15 16p13.3 FAHD1, FLJ36880 P Fumarylacetoacetate hydrolase domain-containing protein 1 616320 REc
16.40 6 13 12 16p13.3 FBXL16, FBL16, C16orf22 P F-box and leucine-rich repeat protein 16 609082 REc 17(Fbxl16)
16.41 11 13 07 16p13.3 GLIS2, NPHP7 C GLIS family zinc finger protein 2 608539 REc Nephronophthisis 7, 611498 (3) 16(Glis2)
16.42 4 29 03 16p13.3 GNG13 P Guanine nucleotide-binding protein, gamma-13 607298 REc
16.43 10 10 05 16p13.3 HBM P Hemoglobin mu 609639 REc ?functional
16.44 5 23 94 16p13.3 HMOX2 P Heme oxygenase 2 141251 Psh, A
16.45 11 22 17 16p13.3 IFT140, KIAA0590, SRTD9, MZSDS, RP80 P Intraflagellar transport 140, Chlamydomonas, homolog of 614620 REc Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3); Retinitis pigmentosa 80, 617781 (3)
16.46 9 20 14 16p13.3 IGFALS, ALS, ACLSD P Insulin-like growth factor-binding protein, acid-labile subunit 601489 REc Acid-labile subunit, deficiency of, 615961 (3)
16.47 5 2 05 16p13.3 IL32, NK4 P Interleukin 32 606001 REc
16.48 5 26 13 16p13.3 KCTD5 P Potassium channel tetramerization domain-containing protein 5 611285 REc, R
16.49 2 21 06 16p13.3 KREMEN2, KRM2 P Kringle domain-containing transmembrane protein 2 609899 REc
16.50 1 29 08 16p13.3 LMF1, TMEM112 P Lipase maturation factor 1 611761 REc, H Lipase deficiency, combined, 246650 (3) 17(Lmf1)
16.51 5 22 03 16p13.3 LUC7L P Luc7, S. cerevisiae, homolog of 607782 REc 17(Luc7l)
16.52 7 14 14 16p13.3 MAPK8IP3, SYD2, JSAP1, JIP3 P Mitogen-activated protein kinase 8-interacting protein 3 605431 REc
16.53 10 1 17 16p13.3 MEIOB, SPGF22 P Meiosis-specific protein with OB domains 617670 REc mutation identified in one SPGF22 family ?Spermatogenic failure 22, 617706 (3)
16.54 7 26 06 16p13.3 MCOPCT1 P Microphthalmia with cataract 1 156850 Ch proximal to HBA1 Microphthalmia with cataract 1 (2)
16.55 7 11 01 16p13.3 MSLN P Mesothelin 601051 R
16.56 11 18 16 16p13.3 MSRB1, SEPX1, SELX P Methionine sulfoxide reductase B1 606216 R, REc
16.57 8 20 07 16p13.3 METRN P Meteorin 610998 REc 17(Metrn)
16.58 2 12 03 16p13.3 MGRN1, KIAA0544 C Mahogunin, ring finger 1 607559 R 16(Mgrn1)
16.59 3 23 09 16p13.3 MIR1225, MIRN1225 P Micro RNA 1225 611621 REc
16.60 8 8 13 16p13.3 MMP25, MMP20A P Matrix metalloproteinase 25 608482 REc, R
16.61 3 11 08 16p13.3 MRPL28, MAAT1 P Mitochondrial ribosomal protein L28 604853 R, REc
16.62 3 31 11 16p13.3 MLST8, GBL, LST8, WAT1, POP3 P MTOR-associated protein LST8 612190 REc
16.63 9 24 11 16p13.3 NAA60, NAT15 P N-alpha-acetyltransferase 60, NatF catalytic subunit 614246 REc
16.64 3 2 10 16p13.3 NAGPA, UCE P N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 607985 R, REc
16.65 9 10 07 16p13.3 NARFL, IOP1 P Nuclear prelamin A recognition factor-like 611118 REc
16.66 6 15 99 16p13.3 NDUFB10 P NADH-ubiquinone oxidoreductase 1 beta subcomplex, 10 603843 R
16.67 3 7 14 16p13.3 NLRC3 P NLR family, Caspase recruitment domain-containing 3 615648 REc
16.68 6 18 97 16p13.3 NME4 P Non-metastatic cells 4, protein expressed in 601818 REa, A
16.69 12 11 17 16p13.3 GLYR1, NP60 P Glyoxylate reductase 1 homolog 610660 REc
16.70 9 22 16 16p13.3 NPRL3, CGTHBA, FFEVF3 P Nitrogen permease regulator-like 3 600928 REn Epilepsy, familial focal, with variable foci 3, 617118 (3)
16.71 2 25 15 16p13.3 NPW, PPNPW, PPL8 P Neuropeptide W 607997 REc
16.72 6 19 98 16p13.3 NTN2L P Netrin-2, chicken, homolog of, like 602349 REf
16.73 2 22 07 16p13.3 NUBP2, CFD1 C Nucleotide-binding protein 2 610779 R, H 17(Nubp2)
16.74 2 7 17 16p13.3 NUDT16L1, SDOS P Nudix hydrolase 16-like 1 617338 REc
16.75 3 28 15 16p13.3 PAM16, MAGMAS, SMDMDM P Presequence translocase-associated motor 16, S. cerevisiae, homolog of 614336 REc Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3)
16.76 4 19 12 16p13.3 PAQR4 P Progestin and ADIPOQ receptor family, member 4 614578 REc
16.77 8 22 07 16p13.3 PDIA2, PDIP P Protein disulfide isomerase, family A, member 2 608012 Psh, A
16.78 1 31 01 16p13.3 PDPK1, PDK1 P 3-phosphoinositide-dependent protein kinase 1 605213 REc
16.79 10 12 90 16p13.3 PGP C Phosphoglycolate phosphatase 172280 S, F, Fd no recombination with PKD1
16.80 8 1 16 16p13.3 PIGQ P Phosphatidylinositol glycan anchor biosynthesis class Q protein 605754 REc
16.81 9 21 11 16p13.3 PKDTS C Polycystic kidney disease, infantile severe, with tuberous sclerosis 600273 RE, Ch contiguous gene syndrome caused by deletion of TSC2 and PKD1 Polycystic kidney disease, infantile severe, with tuberous sclerosis (4)
16.82 8 8 13 16p13.3 PKMYT1, MYT1 P Protein kinase, membrane-associated tyrosine/threonine, 1 602474 REc
16.83 9 27 17 16p13.3 POLR3K, RPC11 P Polymerase III, RNA, subunit K 606007 REc
16.84 8 22 90 16p13.13 PRM1 C Sperm protamine P1 182880 REa, A 16q21 = conflicting localization 16(Prm1)
16.85 8 22 90 16p13.13 PRM2 C Sperm protamine P2 182890 H, RE in same 4.8kb fragment as PRM2 16(Prm2)
16.86 3 22 07 16p13.3 PRSS21, ESP1 C Protease, serine, 21 (testisin) 608159 A, R
16.87 7 1 05 16p13.3 PRSS22 P Protease, serine, 22 609343 REc 17(Prss22)
16.88 4 14 11 16p13.3 PRSS33, EOS P Protease, serine, 33 613797 REc
16.89 9 7 10 16p13.3 PTX4 P Pentraxin 4, long 613442 REc 17(Ptx4)
16.90 12 29 06 16p13.3 RAB11FIP3, EFERIN, KIAA0665 P RAB11 family-interacting protein 3 608738 R, REc
16.91 12 8 00 16p13.3 RAB26 P RAS-associated protein RAB26 605455 Psh, R
16.92 1 1 12 16p13.3 RHBDF1, IRHOM1, DIST1 C Rhomboid 5, Drosophila, homolog of, 1 614403 REc, REn, H 11(Rhbdf1)
16.93 6 24 10 16p13.3 RHBDL, RRP C Rhomboid, Drosophila, homolog of 603264 REc
16.94 4 15 11 16p13.3 RHOT2, MIRO2, ARHT2 P Ras homolog gene family, member T2 613889 REc 17(Rhot2)
16.95 5 8 12 16p13.3 ROGDI, KTZS P Rogdi, Drosophila, homolog of 614574 REc Kohlschutter-Tonz syndrome, 226750 (3)
16.96 4 21 17 16p13.3 RPL3L P Ribosomal protein L3-like 617416 REc
16.97 8 20 99 16p13.3 RS11 P Regulator of G protein signaling 11 603895 REc
16.98 8 20 99 16p13.3 RPS2 P Ribosomal protein S2 603624 REa
16.99 12 29 06 16p13.3 DEL16p13.3, RSTSS P Chromosome 16p13.3 deletion syndrome (Rubinstein-Taybi deletion syndrome) 610543 Ch contiguous gene deletion syndrome Chromosome 16p13.3 deletion syndrome (4)
16.100 9 18 12 16p13.3 SEPT12, SPGF10 P Septin 12 611562 REc Spermatogenic failure 10, 614822 (3)
16.101 1 7 02 16p13.3 SLC9A3R2, SIP1, NHERF2 P Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulatory factor 2 606553 REc
16.102 5 23 11 16p13.3 SLX4, BTBD12, MUS312, KIAA1784, KIAA1987, FANCP P Slx4, S. cerevisiae, homolog of 613278 REc Fanconi anemia, complementation group P, 613951 (3)
16.103 11 10 98 16p13.3 SOLH P Small optic lobes, Drosophila, homolog of 603267 A conflicting localization to Xq24
16.104 4 11 01 16p13.3 SOX8 P SRY-box 8 605923 REc
16.105 12 18 07 16p13.3 SPSB3, SSB3 P SPRY domain- and SOCS box-containing 3 611659 REc
16.106 1 29 01 16p13.3 SRL P Sarcalumenin 604992 REc
16.107 12 5 08 16p13.3 SSTR5 C Somatostatin receptor-5 182455 REa, A Somatostatin analog, resistance to (3) 17(Sstr5)
16.108 5 22 14 16p13.3 STUB1, CHIP, SCAR16 P STIP1 homologous and U box-containing protein 1 607207 R, REc Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
16.109 10 15 14 16p13.3 TBC1D24, KIAA1171, FIME, EIEE16, DOORS, DFNB86, DFNA65 P TBC1 domain family, member 24 613577 REc, Fd Myoclonic epilepsy, infantile, familial, 605021 (3); Epileptic encephalopathy, early infantile, 16, 615338 (3); DOORS syndrome, 220500 (3); Deafness , autosomal recessive 86, 614617 (3); Deafness, autosomal dominant 65, 616044 (3)
16.110 5 14 01 16p13.3 TBL3 P Transducin-beta-like 3 605915 REa, R
16.111 9 26 17 16p13.3 TCEB2, ELOB P Transcription elongation factor B, polypeptide 2 600787 REc
16.112 6 26 16 16p13.3 TELO2, TEL2, CLK2, KIAA0683, HCLK2, YHFS P Telomere maintenance 2, S. cerevisiae, homolog of 611140 R You-Hoover-Fong syndrome, 616954 (3)
16.113 2 25 16 16p13.3 THOC6, FSAP35, BBIS P THO complex subunit 6 615403 REc, Fd Beaulieu-Boycott-Innes syndrome, 613680 (3)
16.114 12 7 07 16p13.2 TMEM114 P Transmembrane protein 114 611579 REc
16.115 7 14 14 16p13.3 TMEM204, C16orf30, CLP24 C Transmembrane protein 204 611002 REc
16.116 12 23 02 16p13.3 TNFRSF12A, FN14, TWEAKR P Tumor necrosis factor receptor superfamily, member 12A 605914 A 17(Fn14)
16.117 4 25 93 16p13.13 TNP2 C Transition protein-2 (during histone to protamine replacement) 190232 REn, A in 13kb segment with PRM1 and PRM2 16(Tnp2)
16.118 3 23 05 16p13.3 TPSAB1, TPS1 C Tryptase, alpha/beta-1 191080 REa, REn, A
16.119 3 23 05 16p13.3 TPSB2, TPS2 C Tryptase, beta 2 191081 REa, REn, A
16.120 3 23 05 16p13.3 TPSD1, MCP7L1 C Tryptase, delta-1 609272 A, REc
16.121 7 1 05 16p13.3 TPSG1, TMT P Tryptase, gamma-1 609341 Psh, REc 17(Tpsg1)
16.122 2 26 10 16p13.3 TRAF7, RFWD1 P TNF receptor-associated factor 7 606692 R, REc
16.123 9 8 08 16p13.3 TRAP1, HSP75, HSP90L C Tumor necrosis factor receptor-associated protein 1 606219 REc
16.124 4 20 17 16p13.3 TSC2, LAM C Tuberin (tuberous sclerosis 2 gene) 191092 Fd, Ch, D, REn somatic mutation identified in 1 FCORD2 patient Tuberous sclerosis-2, 613254 (3); Lymphangioleiomyomatosis, somatic, 606690 (3); ?Focal cortical dysplasia, type II, somatic, 607341 (3) 17(Tsc2)
16.125 8 1 16 16p13.3 TSR3 P TSR3, aminocarboxypropyl transferase ribosome maturation factor 617058 REc
16.126 2 24 97 16p13.3 UBE2I C Ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9) 601661 A
16.127 12 20 05 16p13.3 UBN1 P Ubinuclein 1 609771 REc 16(Ubn1)
16.128 4 26 17 16p13.3 UNKL, ZC3H5L, C16orf28 P Unkempt family-like zinc finger 617463 REc
16.129 2 3 99 16p13.2 USP7, HAUSP P Ubiquitin-specific protease-7, herpes virus-associated 602519 REc previously reported to map to 3p21
16.130 8 19 04 16p13.3 VASN P Vasorin 608843 REc
16.131 3 29 07 16p13.3 WFIKKN1, WFIKKN P WAP, follistatin, immunoglobulin, Kunitz, and NTR domains-containing protein 1 608021 REc
16.132 6 15 99 16p13.3 ZNF174 P Zinc finger protein-174 603900 REa, A
16.133 6 18 99 16p13.3 ZNF205, ZNF210 P Zinc finger protein-205 603436 REc
16.134 1 27 04 16p13.3 ZNF213, CR53 P Zinc finger protein 213 608387 REn, REc
16.135 5 25 13 16p13.3 ZNF263 P Zinc finger protein 263 604191 REc
16.136 7 20 12 16p13.3 ZNF597 P Zinc finger protein 597 614685 REc
16.137 6 12 17 16p13.3 ZNF598 P Zinc finger protein 598 617508 REc
16.138 9 15 98 16q21 CSNK2A2 C Casein kinase-2, alpha-prime polypeptide 115442 REa, A 8(Csnk2a2)
16.139 6 15 15 16p13.3 NTHL1, OCTS3, FAP3 P Endonuclease III, E. coli, homolog of 602656 A Familial adenomatous polyposis 3, 616415 (3)
16.140 4 16 10 16p13.2 PMM2, CDG1A C Phosphomannomutase 2 601785 REa, REc, Fd, R Congenital disorder of glycosylation, type Ia, 212065 (3)
16.141 10 13 15 16p13.12 ERCC4, XPF, FANCQ, XFEPS C Excision-repair, complementing defective, in Chinese hamster, number 4 133520 S, A mutation identified in 1 XFEPS patient Xeroderma pigmentosum, group F, 278760 (3); ?XFE progeroid syndrome, 610965 (3); Fanconi anemia, complementation group Q, 615272 (3); Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3)
16.142 10 12 09 16p13.3 GFER, ERV1, ALR P Growth factor, erv1, S. cerevisiae, homolog of (augmenter of liver regeneration) 600924 REn Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3) 17(Gfer)
16.143 7 27 17 16p13.3 PKD1 C Polycystin-1 601313 F, Fd, REn Polycystic kidney disease 1, 173900 (3) 17(Pkd1)
16.144 5 28 03 16p13.13 LITAF, CMT1C C LPS-induced TNFA factor 603795 A, Fd Charcot-Marie-Tooth disease, type 1C, 601098 (3)
16.145 3 30 16 16p13.2 CARHSP1, CRHSP24 P Calcium-regulated heat-stable protein 1 616885 REc
16.146 3 25 16 16p13.2 DEL16p13.2, C16DELp13.2 P Chromosome 16p13.2 deletion syndrome 616863 Ch Chromosome 16p13.2 deletion syndrome (4)
16.147 6 27 14 16p13.13 EMP2, NPHS10 P Epithelial membrane protein 2 602334 REa, R, REc Nephrotic syndrome, type 10, 615861 (3) 16(Emp2)
16.148 6 4 13 16p13.2 METTL22, C16orf68 P Methyltransferase-like 22 615261 REc
16.149 1 2 03 16p13.13 SOCS1, SSI1, CIS1, CISH1 P Suppressor of cytokine signaling 1 603597 REc
16.150 11 22 10 16p13.2-p13.1 ATF7IP2, MCAF2 P Activating transcription factor 7-interacting protein 2 613645 REc
16.151 2 21 11 16p13.13 BCAR4 P Breast cancer antiestrogen resistance 4 613746 REc
16.152 12 22 08 16p13.13 C16orf75, RMI2, BLAP18 P BLM-associated protein, 18kD 612426 REc
16.153 9 15 10 16p13.13 CLEC16A, KIAA0350 P C-type lectin domain family 16, member A 611303 REc, R
16.154 4 27 12 16p13.11 MARF1, KIAA0430, LKAP P Meiosis regulator and mRNA stability factor 1 614593 R, REc
16.155 11 29 17 16p13.13 TXNDC11, EFP1 P Thioredoxin domain-containing protein 11 617792 REc
16.156 2 28 06 16p13.11 MYH11, AAT4, FAA4 C Myosin, heavy polypeptide-11, smooth muscle 160745 REa, A, Ch, Fd fused with CBFB by inversion in acute myelomonocytic leukemia Aortic aneurysm, familial thoracic 4, 132900 (3) 16(Myh11)
16.157 1 15 14 16p13.12 CPPED1 P Calcineurin-like phosphoesterase domain-containing protein 1 615603 REc
16.158 7 20 12 16p13.12 MIR193B P Micro RNA 193B 614734 REc 16(Mir193b)
16.159 7 20 12 16p13.12 MIR365A P Micro RNA 365A 614735 REc 16(Mir365a)
16.160 3 20 14 16p13.12 MKL2, MRTFB P MKL1/myocardin-like 2 609463 REc
16.161 6 1 15 16p13.12 PARN, DAN, DKCB6, PFBMFT4 P Polyadenylate-specific ribonuclease 604212 R, REc Dyskeratosis congenita, autosomal recessive 6, 616353 (3); Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3)
16.162 2 26 17 16p13.12 SHISA9, CKAMP44 P Shisa family, member 9 613346 REc 16(Shisa9)
16.163 6 10 08 16p12.3 ACSM3, SAH P Acyl-CoA synthetase medium-chain family member 3 145505 REa, A {?Hypertension, essential} (1)
16.164 4 6 18 16p13.13 DEXI, MYLE P Dexamethasone-induced gene 617901 REc, H 15(Dexi)
16.165 10 11 16 16p13.11 FOPNL, FOR20, C16orf63 C FGFR1OP N-terminal domain-like protein 617149 REc
16.166 9 24 13 16p13.11 NOMO1 P Nodal modulator 1 609157 REc
16.167 9 24 13 16p13.11 NOMO3 P Nodal modulator 3 609159 REc
16.168 8 19 13 16p13.11 NTAN1 P N-terminal asparagine amidase 615367 REc
16.169 9 28 11 16p13.11 PDXDC1, KIAA0251 P Pyridoxal-dependent decarboxylase domain-containing protein 1 614244 REc
16.170 5 12 15 16p12.2 CRYM, DFNA40 P Crystallin, mu 123740 Psh Deafness, autosomal dominant 40, 616357 (3)
16.171 11 1 99 16p13.11 ABCC1, MRP1, MRP C ATP-binding cassette, subfamily C, member 1 (multidrug resistance-associated protein 1) 158343 A
16.172 2 24 12 16p13.11 ABCC6, ARA, ABC34, MLP1, PXE, GACI2 C ATP-binding cassette, subfamily C, member 6 603234 A, Fd, LD Pseudoxanthoma elasticum, 264800 (3); Pseudoxanthoma elasticum, forme fruste, 177850 (3); Arterial calcification, generalized, of infancy, 2, 614473 (3)
16.173 8 17 92 16p13.13 GSPT1 P G1 to S phase transition-1 139259 REa, A
16.174 10 13 17 16p13.11 NDE1, NUDE, LIS4, MHAC P nudE neurodevelopment protein 1 609449 R, REc, Fd mutation identified in 1 MHAC family Lissencephaly 4 (with microcephaly), 614019 (3); ?Microhydranencephaly, 605013 (3)
16.175 11 2 01 16p13.11 NPIP P Nuclear pore complex-interacting protein 606406 A
16.176 2 22 07 16p13.13 NUBP1, NBP P Nucleotide-binding protein 1 600280 R, H 16(Nubp1)
16.177 12 18 98 16p13.13 TNFRSF17, BCMA P Tumor necrosis factor receptor superfamily, member 17 (B-cell maturation factor) 109545 Ch
16.178 5 22 14 16p12.3 XYLT1, XT1, DBQD2 P Xylosyltransferase 1 608124 R {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3); Desbuquois dysplasia 2, 615777 (3)
16.179 11 2 01 16p12.1 CACNG3 C Calcium channel, voltage-dependent, gamma-3 subunit 606403 REc
16.180 8 21 91 16p12.2 CDR2 P Cerebellar degeneration-related antigen-2, 62kD 117340 REa, A 7(Cdr2)
16.181 1 13 16 16p12.3 COQ7, CLK1, COQ10D8 C COQ7, S. cerevisiae, homolog of 601683 Psh, A, R mutation identified in 1 COQ10D8 patient ?Coenzyme Q10 deficiency, primary, 8, 616733 (3)
16.182 6 18 99 16p13.12 PLA2G10, SPLA2, GXSPLA2 P Phospholipase A2, group X 603603 A
16.183 12 30 09 16p11.2 TAOK2, TAO2, KIAA0881, PSK, PSK1 C Tao kinase 2 613199 R, REc
16.184 11 19 12 16p12.2 EARS2, KIAA1970, COXPD12 P Glutamyl-tRNA synthetase 2 612799 REc Combined oxidative phosphorylation deficiency 12, 614924 (3)
16.185 1 31 01 16p11.2 MVP, LRP P Major vault protein, rat, homolog of 605088 A
16.186 9 22 04 16p13 ADHD1 C Attention deficit-hyperactivity disorder, susceptibility to, 1 608903 Fd max lod at D16S3114 {Attention deficit-hyperactivity disorder}, 143465 (2)
16.187 10 08 08 16p13 BMIQ5 P Body mass index quantitative trait locus 5 608558 Fd near D16S404 and D16S764 [Body mass index QTL5] (2)
16.188 10 4 16 16p13.13 CIITA, MHC2TA, C2TA P Class II major histocompatibility complex transactivator 600005 A, R Bare lymphocyte syndrome, type II, complementation group A, 209920 (3); {Rheumatoid arthritis, susceptibility to}, 180300 (3)
16.189 11 19 13 16p13.2 GRIN2A, NMDAR2A, FESD, LKS P Glutamate receptor, ionotropic, N-methyl D-aspartate 2A 138253 A Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3)
16.190 2 8 16 16p13.3 CLUAP1, QILIN, FAP22, KIAA0643 C Clusterin-associated protein 1 616787 R, REc
16.191 10 3 07 16p13.3 CLCN7, CLC7, OPTA2, OPTB4 C Chloride channel-7 602727 A Osteopetrosis, autosomal recessive 4, 611490 (3); Osteopetrosis, autosomal dominant 2, 166600 (3)
16.192 7 1 11 16p13.3 HAGH, GLO2 C Hydroxyacyl glutathione hydrolase; glyoxalase II 138760 S [Glyoxalase II deficiency], 614033 (1)
16.193 8 30 01 16p12.2 IGSF6, DORA P Immunoglobulin superfamily, member 6 606222 R 7(Igsf6)
16.194 1 24 09 16p13.3 MEFV, MEF, FMF C Pyrin (marenostrin) 608107 Fd, LD between D16S80 and D16S283 Familial Mediterranean fever, AR, 249100 (3); Familial Mediterranean fever, AD, 134610 (3) 16(Mefv)
16.195 5 26 13 16p13.3 NOXO1 P NADPH oxidase organizer 1 611256 REc 17(Noxo1)
16.196 11 5 98 16p13.3 OR1F1, OLFMF P Olfactory receptor, family 1, subfamily F, member 1 603232 REn
16.197 8 10 98 16p13.3 PPL P Periplakin 602871 R, H 16(Ppl)
16.198 9 8 11 16p13.3 RBFOX1, 2BP1, FOX1, HRNBP1 C RNA-binding protein FOX1, C. elegans, homolog of, 1 605104 Ch, A, REc
16.199 7 17 14 16p13.13 RSL1D1, CSIG, PBK1 P Ribosomal L1 domain-containing protein 1 615874 REc
16.200 9 15 98 16p13.13 SNN C Stannin 603032 Psh, H 16(Snn)
16.201 8 24 09 16p13.3 TIGD7, SANCHO P Tigger transposable element-derived gene 7 612969 REc
16.202 5 16 17 16p11.2 TP53TG3 P TP53 target gene 3 617482 REc
16.203 11 5 98 16p13.3 ZNF200 P Zinc finger protein-200 603231 REn
16.204 7 19 06 16p13-p12 IHPS2 P Pyloric stenosis, infantile hypertrophic, 2 610260 Fd Pyloric stenosis, infantile hypertrophic, 2 (2)
16.205 10 12 09 16p12.2 SCNN1B, BESC1 C Sodium channel, nonvoltage-gated 1, beta 600760 REa, Fd, A, REc Liddle syndrome, 177200 (3); Pseudohypoaldosteronism, type I, 264350 (3); Bronchiectasis with or without elevated sweat chloride 1, 211400 (3) 7(Scnn1b)
16.206 10 12 09 16p12.2 SCNN1G, PHA1, BESC3 C Sodium channel, nonvoltage-gated 1, gamma 600761 Fd, REn, A, REc same 400kb fragment as SCNN1B Liddle syndrome, 177200 (3); Pseudohypoaldosteronism, type I, 264350 (3); Bronchiectasis with or without elevated sweat chloride 3, 613071 (3) 7(Scnn1g)
16.207 10 15 95 16p13.3 TFAP4 L Transcription factor AP-4 (activating enhancer-binding protein 4) 600743 H 16(Tfp4)
16.208 12 1 11 16p12.3 ACSM1, MACS1 C Acyl-CoA synthetase medium-chain family, member 1 614357 REc
16.209 12 1 11 16p12.3 ACSM2A P Acyl-CoA synthetase medium-chain family, member 2A 614358 REc
16.210 12 1 11 16p12.3 ACSM2B, HXMA P Acyl-CoA synthetase medium-chain family, member 2B 614359 REc
16.211 12 1 11 16p12.3 ACSM5 P Acyl-CoA synthetase medium-chain family, member 5 614361 REc
16.212 4 8 13 16p12.3 CCP110, CP110, KIAA0419 P Centrosomal coiled-coil protein, 110kD 609544 R, REc
16.213 1 8 15 16p12.3 DCUN1D3, SCCRO3 P DCN1 domain-containing protein 3 616167 REc
16.214 2 1 11 16p12.3 GP2 P Glycoprotein 2, zymogen granule membrane 602977 REc previously assigned to chr.9
16.215 7 11 12 16p12.3 LYRM1 P LYR motif-containing protein 1 614709 REc
16.216 9 24 13 16p12.3 NOMO2 P Nodal modulator 2 609158 REc
16.217 11 23 16 16p12.3 TMC5 C Transmembrane channel-like protein 5 617197 REc 7(Tmc5)
16.218 11 23 16 16p12.3 TMC7 C Transmembrane channel-like protein 7 617198 REc 7(Tmc7)
16.219 4 6 15 16p12.3 TMEM159 P Transmembrane protein 159 611304 REc
16.220 12 1 15 16p12.3 THUMPD1 P THUMP domain-containing protein 1 616662 REc
16.221 11 3 09 16p12.3 UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2 C Uromodulin (uromucoid, Tamm-Horsfall glycoprotein) 191845 REa, Fd Hyperuricemic nephropathy, familial juvenile 1, 162000 (3); Medullary cystic kidney disease 2, 603860 (3); Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3) 7(Umod)
16.222 5 7 01 16p12.3 GPRC5B, RAIG2 C G protein-coupled receptor, family C, group 5, member B 605948 REc
16.223 4 21 10 16p12.1 LCMT1 P Leucine carboxyl methyltransferase 1 610286 R, REc
16.224 6 15 99 16p12.2 NDUFAB1 P NADH-ubiquinone oxidoreductase 1, alpha/beta subcomplex, 1 603836 R
16.225 5 12 98 16p12.3-p12.1 RP22 P Retinitis pigmentosa-22 602594 Fd Retinitis pigmentosa 22 (2)
16.226 3 9 10 16p12.2 ANKS4B, HARP, FLJ38819 P Ankyrin repeat and sterile alpha motif domain-containing protein 4B 609901 REc, H 7(Harp)
16.227 3 14 07 16p12.1 ARHGAP17, RICH1 P RHO GTPase-activating protein 17 608293 R, REc
16.228 9 10 09 16p12.2 DCTN5, p25 P Dynactin 5 612962 REc
16.229 12 10 13 16p12.2 ERN2 P Endoplasmic reticulum-to-nucleus signaling 2 604034 R, H, REc 7(Ern2)
16.230 12 6 16 16p12.2 METTL9, DREV P Methyltransferase-like 9 609388 REc
16.231 9 27 17 16p12.2 PLK1, STPK13 P Polo-like kinase 1 602098 REc
16.232 12 22 17 16p12.2 POLR3E, SIN, KIAA1452 C Polymerase III, RNA, subunit E 617815 R, REc
16.233 6 18 02 16p12.2 OTOA, DFNB22 P Otoancorin 607038 REc, Fd Deafness, autosomal recessive 22, 607039 (3)
16.234 11 1 10 16p12.2-p11.2 DEL16p12.1p11.2, C16DELp12.1p11.2 P Chromosome 16p12.2-p11.2 deletion syndrome 613604 Ch 17.1-8.7 Mb contiguous gene deletion syndrome Chromosome 16p12.2-p11.2 deletion syndrome (4)
16.235 9 25 12 16p12.2-q12.1 MRT10, MRT20 P 611096 611096 Fd between rs724466 and rs3901517, rs7197568 and rs71972227 Mental retardation, autosomal recessive 10/20 (2)
16.236 1 5 12 16p12.1 CLN3, BTS C Battenin 607042 F, Fd Ceroid lipofuscinosis, neuronal, 3, 204200 (3) 7(Cln3)
16.237 10 25 16 16p12.1 GSG1L P GSG1-like protein 617161 REc
16.238 7 17 14 16p12.1 GTF3C1 P General transcription factor 3C, polypeptide 1 603246 REc
16.239 3 31 08 16p12.1 JMJD5 P Jumonji domain-containing protein 5 611917 REc
16.240 2 8 18 16p12.1 KATNIP, KIAA0556 P Katanin-interacting protein 616650 R, REc Joubert syndrome 26, 616784 (3)
16.241 12 22 16 16p12.1 NSMCE1, NSE1 P Non-SMC element 1, S. cerevisiae, homolog of 617263 REc
16.242 3 23 14 16p11.2 PYDC1, POP1, PYC1, ASC2 P Pyrin domain-containing protein 1 615700 REc
16.243 5 24 13 16p12.1 SLC5A11, KST1, SGLT6, SMIT2 P Solute carrier family 5 (sodium/glucose cotransporter), member 11 610238 REc, A
16.244 1 27 04 16p12.1 XPO6, EXP6, KIAA0370 P Exportin 6 608411 R, REc
16.245 3 20 06 16p12.1 IL4R, IL4RA P Interleukin-4 receptor 147781 A, REa {Atopy, susceptibility to}, 147050 (3); {AIDS, slow progression to}, 609423 (3) 7(Il4r)
16.246 1 11 07 16p12.1-p11.2 MMVP1, MVP, PMV P Mitral valve prolapse, myxomatous 1 157700 Fd Mitral valve prolapse, myxomatous 1 (2)
16.247 1 9 09 16p11.2 PHKG2, GSD9C P Phosphorylase kinase, gamma 2 (testis/liver) 172471 REa Glycogen storage disease IXc, 613027 (3); Cirrhosis due to liver phosphorylase kinase deficiency (3)
16.248 5 27 97 16p11.2 SULT1A1, STP1, STP, PST P Sulfotransferase family 1A, phenol-preferring, member 1 171150 Psh 7(Stp)
16.249 8 18 99 16p11.2 SULT1A2, STP2 C Sulfotransferase family 1A, phenol-preferring, member 2 601292 Psh, REn 45kb from STP1 7(Stp)
16.250 10 8 96 16p11.2 ATP2A1, SERCA1 C ATPase, Ca++ transporting, fast-twitch, 1 108730 REa, A Brody myopathy, 601003 (3) 7(Atp2a1)
16.251 5 4 12 16p12 DEL16p12.1, C16DELp12.1 P Chromosome 16p12.1 deletion syndrome, 520kb 136570 Ch between 21.85-22.37 Mb Chromosome 16p12.1 deletion syndrome, 520kb (4)
16.252 4 27 01 16p12.3 DNAH3, DNAHC3B P Dynein, axonemal, heavy chain 3 603334 A, R
16.253 6 6 00 16p12.2 HS3ST2, 30ST2 P Heparan sulfate D-glucosaminyl 3-0-sulfotransferase 2 604056 REc 7(30st2)
16.254 10 5 07 16p12 MAFD4, BPAD P Major affective disorder 4 611247 Fd max lod at D16S769 Major affective disorder 4 (2)
16.255 4 22 10 16p12.2 PALB2, FANCN, PNCA3 P Partner and localizer of BRCA2 610355 REc Fanconi anemia, complementation group N, 610832 (3); {Breast cancer, susceptibility to}, 114480 (3); {Pancreatic cancer, susceptibility to, 3}, 613348 (3)
16.256 9 14 05 16p13.11 RRN3, TIFIA P RRN3, S. cerevisiae, homolog of 605121 REc
16.257 6 27 02 16p12.3 SMG1, LIP, KIAA0421 P SMG1, C. elegans, homolog of 607032 R, A
16.258 1 31 07 16p12.1 TNRC6A, GW182, KIAA1460 C Trinucleotide repeat-containing gene 6A 610739 R, REc
16.259 3 8 13 16p12.2 UQCRC2, MC3DN5 P Ubiquinol-cytochrome c reductase core protein II 191329 A Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
16.260 7 19 10 16p12.3-p12.2 ZP2 P Zona pellucida glycoprotein 2 182888 REc
16.261 5 2 01 16p12.1 AQP8 P Aquaporin 8 603750 REa, A, H 7(Aqp8)
16.262 3 7 14 16p12.3 ARL6IP1, KIAA0069, SPG61 P ADP-ribosylation factor-like 6 interacting protein 1 607669 A mutation identified in 1 family ?Spastic paraplegia 61, autosomal recessive, 615685 (3) 7(Arl6ip)
16.263 6 24 05 16p12-p11.2 EPRPDC P Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 608105 Fd between D16S3133 and D16S3131 Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp (2)
16.264 2 17 09 16p12.3 GDE1, MIR16 P Glycerophosphodiester phosphodiesterase 1 605943 REc
16.265 2 15 12 16p11.2 HSD3B7, CBAS1 C 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase 607764 R Bile acid synthesis defect, congenital, 1, 607765 (3)
16.266 4 10 02 16p11.2 PYCARD, TMS1, ASC P PYD and CARD domain-containing protein (target of methylation-induced silencing 1) 606838 A, R
16.267 8 4 98 16p12.1 RBBP6 P Retinoblastoma-binding protein-6 600938 A
16.268 1 13 99 16p11.2 PPP4C, PP4, PPX P Protein phosphatase 4, catalytic subunit 602035 A
16.269 8 24 09 16p11.2 ALDOA, GSD12 C Aldolase A, fructose-bisphosphatase 103850 REa, REb, A, REc pseudogenes on 3 and 10 Glycogen storage disease XII, 611881 (3)
16.270 6 3 14 16p12.1 APOBR, APOB48R C Apolipoprotein B receptor 605220 A, REc
16.271 8 22 14 16p11.2 ARMC5, AIMAH2 P Armadillo repeat-containing protein 5 615549 REc ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
16.272 11 12 12 16p11.2 BCKDK, BDK, BCKDKD P Branched-chain alpha-keto acid dehydrogenase kinase 614901 REc Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)
16.273 4 26 10 16p11.2 CCDC101, STAF36 P Coiled-coil domain-containing protein 101 613374 REc
16.274 12 15 10 16p11.2 CD19, CVID3 P CD19 antigen 107265 Psh, A Immunodeficiency, common variable, 3, 613493 (3)
16.275 11 11 14 16p11.2 CD2BP2 P CD2 antigen-binding protein 2 604470 REc
16.276 9 12 13 16p11.2 CORO1A, TACO, CLIPINA, IMD8 P Coronin 1A 605000 REc Immunodeficiency 8, 615401 (3)
16.277 9 27 17 16p11.2 COX6A2 C Cytochrome c oxidase, subunit 6A2 602009 REc, Psh 7(Cox6a2)
16.278 12 6 11 16p11.2 BMIQ16, DEL16p.11.2, C16DELp11.2 P Chromosome 16p11.2 deletion syndrome, 220kb 613444 Ch Chromosome 16p11.2 deletion syndrome, 220kb (4); [Body mass index QTL16] (4)
16.279 7 18 14 16p11.2 DCTPP1 P dCTP pyrophosphatase 1 615840 REc
16.280 6 7 12 16p11.2 DEL16p11.2, C16DELp11.2, AUTS14A P Chromosome 16p11.2 deletion syndrome, 593kb 611913 Ch Chromosome 16p11.2 deletion syndrome, 593kb (4); {Autism susceptibility 14A} (2)
16.281 6 7 12 16p11.2 DUP16p11.2, C16DUPp11.2, AUTS14B P Chromosome 16p11.2 duplication syndrome 614671 Ch Chromosome 16p11.2 duplication syndrome (4); {Autism, susceptibility to, 14B} (2)
16.282 1 12 07 16p11.2 DOC2A P Double C2-like domain-containing protein, alpha 604567 R, REc
16.283 10 3 07 16p11.2 EIF3C, EIF3S8 P Eukaryotic translation initiation factor 3, subunit C 603916 REc
16.284 1 25 05 16p11.2 ERAF, EDRF, AHSP P Erythroid-associated factor (alpha-hemoglobin stabilizing protein) 605821 REc
16.285 4 17 13 16p11.2 FAM57B P Family with sequence similarity 57, member B 615175 REc
16.286 1 11 16 16p11.2 FBRS, FBS1 P Fibrosin 608601 REc
16.287 7 1 11 16p11.2 FBXL19, FBL19 P F-box and leucine-rich repeat protein 19 609085 REc
16.288 11 22 17 16p11.2 FUS, TLS, ALS6, ETM4 C Fusion, derived from 12-16 translocation, malignant liposarcoma 137070 Ch, RE, REc 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)
16.289 4 22 15 16p11.2 GDPD3, GDE7 P Glycerophosphodiester phosphodiesterase domain-containing protein 3 616318 REc
16.290 7 20 12 16p11.2 HIRIP3 P HIRA-interacting protein 3 603365 REc
16.291 6 6 00 16p12.1 HS3ST4, 30ST4 P Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4 604059 REc 7(30st4)
16.292 3 31 98 16p11.2 ITGAD, CD11D P Integrin, alpha D 602453 A
16.293 6 11 92 16p11.2 ITGAL, CD11A, LFA1A C Integrin, alpha-L (antigen CD11A (p180), lymphocyte function-associated antigen-1, alpha polypeptide) 153370 S, REa, A 7(Ly15)
16.294 9 24 08 16p11.2 ITGAM, CR3A, CD11B, MAC1A, SLEB6 C Integrin, alpha-M (complement component receptor-3, alpha; antigen CD11B (p170); macrophage antigen, alpha polypeptide) 120980 RE, A ?in same restriction fragment as LFA1A {Systemic lupus erythematous, association with susceptibility to, 6}, 609939 (3)
16.295 1 9 94 16p11.2 ITGAX, CD11C P Integrin, alpha-X (antigen CD11C (p150), alpha polypeptide) 151510 REa, A
16.296 8 29 13 16p11.2 KAT8, MYST1, MOF P K(lysine) acetyltransferase 8 609912 REc
16.297 10 1 04 16p11.2 KCTD13, POLDIP1, FKSG86 P Potassium channel tetramerization domain-containing 13 608947 A
16.298 1 25 12 16p11.2 KIF22, KNSL4, KID, OBP, SEMDJL2 C Kinesin family member 22 603213 REc, A Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
16.299 6 8 17 16p11.2 LAT, IMD52 P Linker for activation of T cells 602354 A Immunodeficiency 52, 617514 (3)
16.300 5 19 97 16p11.2 MAPK3, PRKM3, ERK1 P Mitogen-activated protein kinase 3 601795 REa, A 7(Prkm3)
16.301 10 26 98 16p11.2 MAZ, ZF87, PUR1 C MYC-associated zinc finger protein 600999 A
16.302 3 18 17 16p11.2 MYLPF, MLC2B, MRLC2, MYL11 P Myosin light chain, phosphorylatable, fast skeletal muscle 617378 REc
16.303 3 30 12 16p11.2 NFATC2IP, NIP45 P NFATC2-interacting protein 614525 REc
16.304 9 10 12 16p11.2 NUPR1, COM1, p8 P Nuclear protein, transcriptional regulator, 1 614812 Psh
16.305 7 22 09 16p11.2 ORAI3, TMEM142C P ORAI calcium release-activated calcium modulator 3 610930 REc
16.306 7 14 14 16p11.2 PAGR1, C16orf53, PA1 P PAXIP1-associated glutamate-rich protein 1 612033 REc
16.307 8 13 91 16p12.2-p12.1 PRKCB1, PKCB P Protein kinase C, beta 1 polypeptide 176970 REa, A
16.308 4 20 17 16p11.2 PRR14 P Proline-rich protein 14 617423 REc
16.309 11 21 12 16p11.2 PRRT2, PKC, DYT10, EKD1, BFIS2, BFIC2, ICCA P Proline-rich transmembrane protein 2 614386 Fd, REc Episodic kinesigenic dyskinesia 1, 128200 (3); Seizures, benign familial infantile, 2, 605751 (3); Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3)
16.310 5 26 13 16p11.2 PRSS53, POL3S P Protease, serine, 53 610561 REc
16.311 4 1 96 16p11.2 PRSS8 P Protease, serine, 8 (prostasin) 600823 A
16.312 5 26 13 16p11.2 PRSS36 P Protease, serine, 36 610560 REc
16.313 7 9 06 16p11.2 QPRT P Quinolinate phosphoribosyltransferase 606248 R
16.314 10 2 13 16p11.2 RABEP2 P RAB GTPase-binding effector protein 2 611869 REc
16.315 4 21 14 16p11.2 RNF40, BRE1B, RBP95, KIAA0661 P Ring finger protein 40 607700 REc
16.316 2 15 12 16p11.2 SRCAP, SWR1, KIAA0309, FLHS P SNF2-related CBP activator protein 611421 R, REc Floating-Harbor syndrome, 136140 (3)
16.317 2 1 11 16p11.2 SEPHS2, SPS2 P Selenophosphate synthetase 2 606218 REc 7(Sps2)
16.318 7 22 09 16p11.2 SEPT1, DIFF6 P Septin 1 612897 REc
16.319 8 21 07 16p11.2 SETD1A, SET1A, SET1, KIAA0339 P SET domain-containing protein 1A 611052 R, REc
16.320 12 1 15 16p11.2 SEZ6L2, BSRPA P SEZ6-like protein 2 616667 REc
16.321 6 3 14 16p11.2 SH2B1, SH2B, KIAA1299 P SH2B adaptor protein 1 608937 REc, R 7(Sh2b)
16.322 12 10 02 16p11.2 SLC5A2, SGLT2 P Solute carrier family 5 (sodium/glucose cotransporter), member 2 182381 REa Renal glucosuria, 233100 (3)
16.323 7 14 14 16p11.2 SLX1A, GIYD1 P SLX1 structure-specific endonuclease subunit, S. cerevisiae, homolog of, A 615822 REc
16.324 7 14 14 16p11.2 SLX1B, GIYD2 P SLX1 structure-specific endonuclease subunit, S. cerevisiae, homolog of, B 615823 REc
16.325 10 12 90 16p11.2 SPN, LSN, CD43 C Sialophorin (leukosialin) 182160 REa, A 7(Ly48)
16.326 2 17 09 16p11.2 SPNS1, SPIN1 P Spinster, Drosophila, homolog of, 1 612583 REc
16.327 1 21 11 16p11.2 STX4, STX4A P Syntaxin 4 186591 REc
16.328 8 18 99 16p11.2 SULT1A3, STM C Sulfotransferase family 1A, phenol-preferring, member 3 600641 REa, Psh
16.329 7 14 14 16p11.2 SULT1A4 P Sulfotransferase family 1A, cytosolic, phenol-preferring, member 4 615819 REc
16.330 1 12 15 16p11.2 STX1B, GEFSP9 P Syntaxin 1B 601485 A Generalized epilepsy with febrile seizures plus, type 9, 616172 (3)
16.331 1 27 11 16p11.2 TBC1D10B P TBC1 domain family, member 10B 613620 REc
16.332 9 24 15 16p11.2 TBX6, SCDO5 C T-box 6 602427 A, H, R Spondylocostal dysostosis 5, 122600 (3) 7(Tbx6)
16.333 4 23 09 16p11.2 TGFB1I1, ARA55, HIC5 P Transforming growth factor, beta-1-induced 1 602353 Psh, A
16.334 3 9 10 16p11.2 TRIM72, MG53 P Tripartite motif-containing protein 72 613288 REc
16.335 1 5 07 16p11.2 TUFM, EFTU, COXPD4 C Tu translation elongation factor, mitochondrial 602389 Psh, A pseudogene on chr.17 Combined oxidative phosphorylation deficiency 4, 610678 (3)
16.336 4 21 04 16p11.2 VKORC1, VKOR, VKCFD2, FLJ00289 C Vitamin K epoxide reductase complex, subunit 1 608547 REn, REc, Fd, H Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3); Warfarin resistance, 122700 (3)
16.337 12 28 08 16p11.2 YPEL3 P Yippee-like 3 609724 REc 7(Ypel3)
16.338 1 26 17 16p11.2 ZG16, ZG16A, JCLN1 P Zymogen granule protein, 16-kD 617311 REc
16.339 9 1 16 16p11.2 ZNF668 P Zinc finger protein 668 617103 REc
16.340 1 31 01 16p11.2 CTF1, CT1 P Cardiotrophin 1 600435 A, R
16.341 7 21 14 16p11 INV16p11 P Chromosome 16p11 inversion (0.45Mb) 615835 Ch
16.342 11 5 04 16p11.2 ATXN2L, A2D P Ataxin 2-like 607931 A pseudogene at 7p21
16.343 4 17 01 16p11.2 BCL7C P B-cell CLL/lymphoma 7C 605847 A
16.344 3 13 18 16p12.1 IL21R, IMD56 C Interleukin 21 receptor 605383 R, REc, Ch fusion partner with BCL6 [IgE, elevated level of], 147050 (3); Immunodeficiency 56, 615207 (3)
16.345 3 22 07 16p12.1-p11.2 IL27, IL30 P Interleukin 27 608273 REc
16.346 7 7 04 16p12.2 COG7, CDG2E C Component of oligomeric golgi complex 7 606978 REc Congenital disorder of glycosylation, type IIe, 608779 (3)
16.347 3 13 08 16p13.3 GNPTAG C N-acetylglucosamine-1-phosphotransferase, gamma subunit 607838 REc Mucolipidosis III gamma, 252605 (3)
16.348 1 31 02 16p IBD8 P Inflammatory bowel disease 8 606668 Fd {Inflammatory bowel disease 8} (2)
16.349 8 20 99 16p12.3 RPS15A P Ribosomal protein S15a 603674 REa, R
16.350 8 30 02 16q21 CX3CL1, SCYD1, NTT, NTN C Chemokine, C-X3-C motif, ligand 1 (fractalkine; neurotactin) 601880 R, Psh, REc 8(Ntt)
16.351 1 22 07 16q PSORS8 P Psoriasis susceptibility 8 610707 Fd proximal to D16S3034 {Psoriasis susceptibility 8} (2)
16.352 2 27 02 16q SLI1 P Specific language impairment QTL, 1 606711 Fd Specific language impairment QTL, 1 (2)
16.353 9 2 96 16q WT3 P Wilms tumor-3 194090 D loss of heterozygosity Wilms tumor, type 3 (2)
16.354 7 23 03 16q12.1 NEOT2 P Neuropilin and tolloid like 2 607974 REc
16.355 2 12 07 16q11-q22 AA2 P Alopecia areata 2 610753 Fd max lod at D16S415 Alopecia areata 2 (2)
16.356 12 9 05 16q11.1-q22 DUPC1 P Dupuytren contracture 1 126900 Fd max lod at D16S415 Dupuytren contracture 1 (2)
16.357 12 21 09 16p11.2 BOLA2 P BolA, E. coli, homolog of, 2 613182 REc
16.358 7 10 08 16q11.2 MYLK3, MLCK P Myosin light chain kinase 3 612147 REc, H 8(Mylk3)
16.359 9 14 17 16q11.2 VPS35, MEM3, PARK17 C Vacuolar protein sorting 35, yeast, homolog of 601501 REc, H {Parkinson disease 17}, 614203 (3) 8(Mem3)
16.360 8 20 07 16q11.2 SHCBP1, PAL P SHC SH2 domain-binding protein 1 611027 R, REc
16.361 7 12 12 16q12.2 IRX5, HMMS P Iroquois homeo box protein 5 606195 A Hamamy syndrome, 611174 (3)
16.362 7 8 03 16q12.2 IRX6, IRX7 P Iroquois homeo box protein 6 606196 A
16.363 3 31 15 16q12.1 NKD1 P Naked cuticle, Drosophila, homolog of, 1 607851 REc
16.364 1 31 17 16q12.1 NOD2, CARD15, IBD1, CD, YAOS, BLAUS C Nucleotide-binding oligomerization domain protein 2 605956 REc, Fd {Inflammatory bowel disease 1, Crohn disease}, 266600 (3); Blau syndrome, 186580 (3); {Yao syndrome}, 617321 (3); {Psoriatic arthritis, susceptibility to}, 607507 (2)
16.365 3 15 11 16q11.2 ORC6, ORC6L P Origin recognition complex, subunit 6, S. cerevisiae, homolog of 607213 REc Meier-Gorlin syndrome 3, 613803 (3)
16.366 5 28 98 16q12.1 SIAH1 C Seven in absentia, Drosophila, homolog of, 1 602212 A
16.367 10 25 12 16q12.1 ZNF423, ZFP423, OAZ, KIAA0760, NPHP14, JBTS19 P Zinc finger protein 423 604557 R Nephronophthisis 14, 614844 (3); Joubert syndrome 19, 614844 (3) 8(Zfp423)
16.368 3 21 95 16q12.1 ADCY7 P Adenylate cyclase-7 600385 Psh, REc
16.369 6 17 08 16q12.1 CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS P CYLD gene 605018 Fd, REc behaves as tumor suppressor Cylindromatosis, familial, 132700 (3); Brooke-Spiegler syndrome, 605041 (3); Trichoepithelioma, multiple familial, 1, 601606 (3)
16.370 2 10 00 16q12.1 PHKB C Phosphorylase kinase, beta polypeptide 172490 REa, A Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)
16.371 1 27 11 16q12.1 ABCC11, MRP8, EWWD, WW C ATP-binding cassette, subfamily C, member 11 607040 R, REc, Fd [Earwax, wet/dry], 117800 (3); [Axillary odor, variation in], 117800 (3); [Colostrum secretion, variation in], 117800 (3)
16.372 6 28 02 16q12.1 ABCC12, MRP9 P ATP-binding cassette, subfamily C, member 12 607041 R, REc
16.373 3 20 16 16q12.1 CNEP1R1, NEP1R1, TMEM188 P C-terminal domain nuclear envelope phosphatase 1 regulatory subunit 1 616869 REc
16.374 9 9 09 16q12.1 CLN1 P Precerebellin 1 600432 REc 8(Cbln1)
16.375 11 4 08 16q11.2 DNAJA2, DJ3, CPR3 P DNAJ/HSP40 homolog, subfamily A, member 2 611322 R, REc
16.376 9 22 16 16q11.2 GPT2, ALT2, MRT49 P Glutamate pyruvate transaminase 2 138210 REc Mental retardation, autosomal recessive 49, 616281 (3)
16.377 12 17 12 16q12.1 HEATR3, SYO1 P HEAT repeat-containing protein 3 614951 REc
16.378 2 23 08 16q12.1 ITFG1, TIP P Integrin-alpha FG-gap repeat-containing protein 1 611803 R, REc
16.379 11 14 17 16q12.1 LONP2, PLON, PSLON C LON peptidase 2, peroxisomal 617774 REc
16.380 6 29 04 16q12.1 SALL1, HSAL1, TBS P Sal-like 1 602218 Ch, A Townes-Brocks syndrome 1, 107480 (3); Townes-Brocks branchiootorenal-like syndrome, 107480 (3) 8(Sall1)
16.381 2 25 10 16q12.1 SNX20, SLIC1 P Sorting nexin 20 613281 REc
16.382 4 24 09 16q12.1 STHAG2, HYD2 P Tooth agenesis, selective, 2 602639 Fd Tooth agenesis, selective, 2 (2)
16.383 6 7 12 16q12.1-q23.1 STUT4 P Stuttering, familial persistent, 4 614668 Fd max lod at D16S3043 Stuttering, familial persistent, 4 (2)
16.384 5 21 07 16q12.2 AKTIP, FTS, FT1 P AKT_interacting protein 608483 REc
16.385 5 2 16 16q12.2 CHD9, CREMM, PRIC320, KIAA0308 P Chromodomain helicase DNA-binding protein 9 616936 R
16.386 2 13 14 16q12.2 CRNDE P Colorectal neoplasia differentially expressed gene, noncoding 615624 REc
16.387 11 13 15 16q12.2 FTO, GDFD, BMIQ14 P Fat mass- and obesity-associated gene 610966 REc Growth retardation, developmental delay, facial dysmorphism, 612938 (3); {Obesity, susceptibility to, BMIQ14}, 612460 (3)
16.388 9 2 09 16q12.2 IRX3, IRXB1 P Iroquois homeobox protein 3 612985 R, REc
16.389 6 9 08 16q12.2 LPCAT1, AYTL1 P Lysophosphatidylcholine acyltransferase 2 612040 R, REc
16.390 6 13 16 16q13 NUDT21, CPSF5, CFIM25 P Nudix hydrolase 21 604978 R, REc
16.391 7 8 10 16q12.2 RPGRIP1L, KIAA1005, JBTS7, MKS5 C RPGRIP1-like 610937 R, REc Joubert syndrome 7, 611560 (3); Meckel syndrome 5, 611561 (3); COACH syndrome, 216360 (3)
16.392 3 22 00 16q12.2 SLC6A2, NAT1, NET1 C Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2, cocaine- and antidepressant-sensitive 163970 REa, A, Fd Orthostatic intolerance, 604715 (3) 8(Slc6a2)
16.393 5 23 94 16q12.2 RBL2 P Retinoblastoma-like 2 180203 A
16.394 9 16 03 16q13 HERPUD1, MIF1, HERP, KIAA0025 P Homocysteine- and endoplasmic reticulum stress-inducible protein, ubiquitin-like domain-containing, 1 608070 REa, REc
16.395 9 1 16 16q21 ADGRG1, GPR56, TM7XN1, BFPP, BPPR C Adhesion G protein-coupled receptor G1 604110 A, R, REc, Fd Polymicrogyria, bilateral frontoparietal, 606854 (3); Polymicrogyria, bilateral perisylvian, 615752 (3) 8(Gpr56)
16.396 9 29 13 16q13 ARL2BP, BART P ADP ribosylation factor-like 2-binding protein 615407 REc Retinitis pigmentosa with or without situs inversus, 615434 (3)
16.397 8 29 02 16q21 CCL17, SCYA17, TARC P Chemokine, C-C motif, ligand 17 601520 R, Psh, REc
16.398 8 29 02 16q21 CCL22, SCYA22 C Chemokine, C-C motif, ligand 22 602957 R, Psh, REc
16.399 7 10 09 16q21 CNGB1, CNCG3L, CNCG2, RP45 P Cyclic nucleotide gated channel, beta 1 600724 Psh, A Retinitis pigmentosa 45, 613767 (3)
16.400 5 25 13 16q13 CPNE2, CPN2 P Copine II 604206 REc
16.401 5 24 12 16q21 COQ9, C16orf49, COQ10D5 P Coq9, S. cerevisiae, homolog of 612837 REc Coenzyme Q10 deficiency, primary, 5, 614654 (3)
16.402 12 11 03 16q21 DOK4 P Docking protein 4 608333 REc
16.403 11 10 17 16q13 FAM192A, NIP30, C16orf94 P Family with sequence similarity 192, member A 617766 REc 8(Fam192a)
16.404 6 12 17 16q13 GNAO1, EIEE17, NEDIM P Guanine nucleotide-binding protein (G protein), alpha-activating activity 139311 REa, H close to MT1 in mouse Epileptic encephalopathy, early infantile, 17, 615473 (3); Neurodevelopmental disorder with involuntary movements, 617493 (3) 8(Gnao1)
16.405 6 7 10 16q13 MIR138-2, MIRN138-2 P Micro RNA 138-2 613395 REc
16.406 11 1 13 16q12.2 MMP2, CLG4A, MONA C Matrix metalloproteinase 2 (gelatinase A, 72kD type IV collagenase) 120360 REa, A, Ch near MT1,2 Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3) 8(Mmp2)
16.407 2 23 92 16q13 MT1A C Metallothionein 1A (functional) 156350 REa, A, REn proximal to FRA16B 8(Mt1)
16.408 2 23 92 16q13 MT1B C Metallothionein 1B (functional) 156349 REn
16.409 2 23 92 16q13 MT1E C Metallothionein 1E (functional) 156351 REn
16.410 2 23 92 16q13 MT1F C Metallothionein 1F (functional) 156352 REn
16.411 2 23 92 16q13 MT1G C Metallothionein 1G 156353 REn
16.412 2 23 92 16q13 MT1H C Metallothionein 1H 156354 REn
16.413 2 23 92 16q13 MT1I C Metallothionein 1I 156355 REn
16.414 2 23 92 16q13 MT1J C Metallothionein 1J 156356 REn
16.415 2 23 92 16q13 MT1K C Metallothionein 1K 156357 REn
16.416 2 23 92 16q13 MT1L C Metallothionein 1L 156358 REn
16.417 2 23 92 16q13 MT1X C Metallothionein 1X 156359 REn
16.418 2 23 92 16q13 MT2A, MT2 C Metallothionein 2A 156360 REa, A, REn pseudogene MT2P1 on 4cen-q21 8(Mt2)
16.419 12 16 93 16q13 MT3, GIFB C Metallothionein 3 (growth inhibitory factor (neurotrophic)) 139255 REa
16.420 11 22 09 16p13.3 NME3, NM23H3 P Nonmetastatic cells 3, protein expressed in 601817 Psh, A
16.421 4 7 16 16q13 NUP93, NIC96, KIAA0095, NPHS12 P Nucleoporin, 93kD 614351 R, REc Nephrotic syndrome, type 12, 616892 (3)
16.422 7 18 14 16q13 OGFOD1 P 2-oxoglutarate- and iron-dependent oxygenase domain-containing protein 1 615857 REc
16.423 5 15 96 16q13 SLC12A3, NCCT, TSC C Solute carrier family 12 (sodium/potassium/chloride transporters), member 3 600968 Fd, A Gitelman syndrome, 263800 (3)
16.424 8 29 02 16q13 PLLP, PMLP, TM4SF11 P Plasma membrane proteolipid (plasmolipin) 600340 R, A
16.425 12 28 15 16q13 RSPRY1, KIAA1972, SEMDFA P RING finger- and SPRY domain-containing protein 11 616585 REc Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616723 (3)
16.426 8 3 12 16q21 TEPP P Testis-prostate-placenta-expressed protein 610264 REc
16.427 7 6 17 16q21 USB1, C16orf57, PN P U6 small nuclear RNA biogenesis phosphodiesterase 1 613276 REc Poikiloderma with neutropenia, 604173 (3)
16.428 3 20 01 16q13-q21 ANMA P Anisomastia 605746 Ch Anisomastia (2)
16.429 2 7 01 16q21 KIFC3 P Kinesin family member C3 604535 REa, R
16.430 1 13 99 16q21 MMP15 C Matrix metalloproteinase 15 602261 A
16.431 9 15 17 16p13.3 MRPS34, MRPS12, COXPD32 P Mitochondrial ribosomal protein S34 611994 REc Combined oxidative phosphorylation deficiency 32, 617664 (3)
16.432 5 23 94 16q21 POLR2C P Polymerase (RNA) II (DNA directed) polypeptide C, 33kD 180663 A
16.433 9 23 08 16q12.2 CES1, SES1 C Carboxylesterase 1 (monocyte/macrophage serine esterase 1) 114835 REa Carboxylesterase 1 deficiency (3) 8(Ces1)
16.434 8 20 07 16q13-q22.1 EKD2 P Episodic kinesigenic dyskinesia 2 611031 Fd max lod at D16S503 Episodic kinesigenic dyskinesia 2 (2)
16.435 6 2 16 16q21 ADGRG5, GPR114 P Adhesion G protein-coupled receptor G5 616965 REc
16.436 11 5 98 16q13 AMFR, GP78 P Autocrine motility factor receptor 603243 A
16.437 9 24 15 16q13 BBS2, RP74 C Bardet-Biedl syndrome 2 606151 Fd, REc Bardet-Biedl syndrome 2, 615981 (3); Retinitis pigmentosa 74, 616562 (3)
16.438 2 18 10 16q21 BEAN, SCA31 P Brain-expressed, associated with NEDD4 612051 REc Spinocerebellar ataxia 31, 117210 (3)
16.439 11 4 14 16q21 CCDC113 P Coiled-coil domain-containing protein 113 616070 REc
16.440 2 12 07 16q22.1 CES3, ES31 P Carboxylesterase 3 605279 REc
16.441 9 6 11 16q13 CETP, HDLCQ10 C Cholesteryl ester transfer protein, plasma 118470 REa, A Hyperalphalipoproteinemia, 143470 (3); [High density lipoprotein cholesterol level QTL 10], 143470 (3)
16.442 4 6 18 16q21 CFAP20, BUG22, C16orf80, FSAP23 P Cilia- and flagella-associated protein 20 617906 REc
16.443 11 17 14 16q21 CIAPIN1 P Cytokine-induced apoptosis inhibitor 1 (anamorsin) 608943 REc
16.444 9 9 08 16q21 CNOT1, NOT1 P CCR4-NOT transcription complex, subunit 1 604917 REc
16.445 9 30 11 16q21 SLC38A7, SNAT7 P Solute carrier family 38 (amino acid transporter), member 7 614236 REc
16.446 11 30 06 16q21 GINS3, PSF3 P GINS complex subunit 3 610610 R, REc
16.447 4 26 90 16q21 GOT2 C Glutamic-oxaloacetic transaminase-2, mitochondrial (EC 2.6.1.1) 138150 S, F, H ?pseudogenes on 12 and 1 8(Got2)
16.448 2 13 15 16q21 KATNB1, LIS6 P Katanin, p80 subunit, B1 602703 REc Lissencephaly 6, with microcephaly, 616212 (3)
16.449 6 30 15 16q21 SETD6 P SET domain-containing protein 6 616424 REc
16.450 10 11 01 16q22.1 WWP2 P WW domain-containing protein 2 602308 R
16.451 4 30 09 16q22.2 DHX38, DDX38, PRP16 P DEAH (Asp-Glu-Ala-His) box polypeptide 38 (PRP6, S. cerevisiae, homolog of) 605584 R
16.452 11 20 15 16q21-q22 OPA8 P Optic atrophy 8 616648 Fd max lod at D16S752 Optic atrophy 8 (2)
16.453 1 13 99 16q21 CDH8 P Cadherin-8 603008 Psh
16.454 1 13 99 16q21 CDH11, CAD11 P Cadherin-11 (OB-cadherin, osteoblast) 600023 H, Psh 8(cad11)
16.455 5 6 13 16q22.1 HSF4, CTM, CTRCT5 C Heat-shock transcription factor 4 602438 A, Fd Cataract 5, multiple types, 116800 (3)
16.456 2 24 12 16q21 NDRG4, SMAP8, KIAA1180 P NMYC downstream-regulated gene 4 614463 REc
16.457 1 4 18 16q23.2 BCO1, BCMO1, BCDO P Beta-carotene oxygenase 1 605748 Psh, R mutation identified in 1 HCVAD patient ?Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3)
16.458 10 27 89 16q22.1 CA7 P Carbonic anhydrase VII 114770 REa, A
16.459 11 29 12 16q22.1 NOL3, NOP, MYC, ARC, FCM P Nucleolar protein 3 605235 R Myoclonus, familial cortical, 614937 (3)
16.460 4 30 15 16q22.1 AARS, CMT2N, EIEE29 C Alanyl-tRNA synthetase 601065 A, R Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3); Epileptic encephalopathy, early infantile, 29, 616339 (3)
16.461 4 20 04 16q22.1 AGRP, ART, AGRT P Agouti-related transcript, mouse, homolog of 602311 A {Obesity, late-onset}, 601665 (3); {Leanness, inherited} (3)
16.462 8 29 01 16q22 ANBC P Aneurysmal bone cysts 606179 Ch t(16:17); ?defect at 17p13 Aneurysmal bone cysts (2)
16.463 9 30 09 16q22 ATFB8 P Atrial fibrillation, familial, 8 613055 Fd associated with rs7193343 Atrial fibrillation, familial, 8 (2)
16.464 6 13 02 16q22.1 ATP6V0D1 C ATPase, H=transporting lysosomal, 38kD, V0 subunit D, isoform 1 607028 R, REc
16.465 3 27 12 16q22 C16DELq22, DEL16q22 P Chromosome 16q22 deletion syndrome 614541 Ch Chromosome 16q22 deletion syndrome (4)
16.466 3 27 12 16q22.1 CBFB, PEBP2B C Core-binding factor, beta subunit 121360 Ch inv(16)(p13;q22); fuses to MYH11 Myeloid leukemia, acute, M4/M4Eo subtype, somatic, 601626 (1)
16.467 9 28 00 16q23.1 CHST5 P Carbohydrate sulfotransferase-5 (GlcNAc-6-O-sulfotransferase, intestinal) 604817 REc, R
16.468 9 28 00 16q23.1 CHST6, MCDC1 P Carbohydrate sulfotransferase-6 (GlcNAc-6-sulfotransferase, corneal) 605294 Fd, REc, R Macular corneal dystrophy, 217800 (3)
16.469 12 5 11 16q21 CMTM1, CKLFSF1 P CKLF-like marvel transmembrane domain-containing 1 607884 REc 8(Cklfsf1)
16.470 12 5 11 16q21 CMTM2, CKLFSF2 P CKLF-like marvel transmembrane domain-containing 2 607885 REc 8(Cklfsf2a/b)
16.471 12 5 11 16q22.1 CMTM3, CKLFSF3 P CKLF-like marvel transmembrane domain-containing 3 607886 REc 8(Cklfsf3)
16.472 12 5 11 16q21-q22 CMTM4, CKLFSF4 P CKLF-like marvel transmembrane domain-containing 4 607887 REc 8(Cklfsf4)
16.473 5 26 13 16q23.1 CNTNAP4, CASPR4, KIAA1763 C Contactin-associated protein-like 4 610518 R, REc
16.474 5 28 10 16q22.2 DHODH, URA1, POADS P Dihydroorotate dehydrogenase 126064 A Miller syndrome, 263750 (3)
16.475 4 29 02 16q22.1 FHOD1, FHOS P Formin homology 2 domain-containing 1 606881 R
16.476 9 24 11 16q22.1 HSD11B2, HSD11K, AME C Hydroxysteroid (11-beta) dehydrogenase 2 614232 A Apparent mineralocorticoid excess, 218030 (3)
16.477 4 16 09 16q22.1 NAE1, APPBP1 P NEDD8 activating enzyme E1 subunit 1 603385 A
16.478 9 1 16 16q22 NAIC P North American Indian childhood cirrhosis 604901 Fd North American Indian childhood cirrhosis (2)
16.479 9 26 96 16q22.1 RRAD P Ras-related associated with diabetes 179503 Fd, A
16.480 8 17 16 16q21 TK2, MTDPS2, PEOB3 C Thymidine kinase, mitochondrial 188250 S, REc mutation identified in 1 PEOB3 family Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3); ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3)
16.481 6 18 99 16q22.1 TRADD L TNRF1-associated death domain protein 603500 H 8(Tradd)
16.482 9 1 16 16q22.1 UTP4, CIRH1A, TEX292, KIAA1988 C Utp4, S. cerevisiae, homolog of 607456 Fd, HZ
16.483 3 24 06 16q22.1 VPS4A, VPS4 C Vacuolar protein sorting 4, yeast, homolog of, A 609982 A, REc, H 8(Vps4a)
16.484 2 9 92 16q22.2 ZNF19, KOX12 P Zinc finger protein-19 (KOX12) 194525 A ?16q23, 19q13 8(Zfp1)
16.485 11 4 93 16q22.2 ZNF23, KOX16 P Zinc finger protein-32 (KOX16) 194527 A 8(Zfp4)
16.486 10 15 95 16q23.1 GLG1 P Golgi apparatus protein 1 600753 A 8(Glg1)
16.487 6 8 15 16q23.2 MAF, CCA4, CTRCT21, AYGRP P v-Maf avian musculoaponeurotic fibrosarcoma oncogene homolog 177075 A Cataract 21, multiple types, 610202 (3); Ayme-Gripp syndrome, 601088 (3)
16.488 11 7 01 16q22.1 SNTB2, SNT2B2, SNTL C Syntrophin, beta-2 600027 REa, Psh, A 8(Sntb2)
16.489 3 8 91 16q24.1 COX4I1, COX4 P Cytochrome c oxidase, subunit IV, isoform 1 123864 REa
16.490 9 24 15 16q22.1 ACD, PTOP, PIP1, TINT1 P Acd, mouse, homolog of 609377 R, REc mutation has been identified in 1 DKCA7 and 1 DKCB7 family ?Dyskeratosis congenita, autosomal dominant 6, 616553 (3); ?Dyskeratosis congenita, autosomal recessive 7, 616553 (3) 8(Acd)
16.491 6 28 94 16q22.2 CALB2 P Calbindin 2, 29kD (calretinin) 114051 REa
16.492 1 31 17 16q22.1 CARMIL2, RLTPR P Capping protein regulator and myosin 1 linker 2 610859 REc
16.493 9 21 17 16q22.1 CDH1, UVO, LCAM, ECAD, BCDS1 C Cadherin-1 (E-cadherin; uvomorulin) 192090 REa, D, Ch near LCAT Endometrial carcinoma, somatic, 608089 (3); Ovarian carcinoma, somatic, 167000 (3); {Breast cancer, lobular}, 114480 (3); Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 (3); {Prostate cancer, susceptibility to}, 176807 (3); Blepharocheilodontic syndrome 1, 119580 (3) 8(Um)
16.494 1 23 09 16q22.1 CDH3, CDHP, PCAD, HJMD C Cadherin-3 (P-cadherin) 114021 H, Psh, Fd in mouse tightly linked to ECAD Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3); Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3) 8(Pcad)
16.495 1 13 99 16q21 CDH5 P Cadherin-5 601120 H, Psh 8(Cdh5)
16.496 1 13 05 16q22.1 CDH16 C Cadherin-16 603118 A, R 8(Cdh16)
16.497 10 8 07 16q22.1 CENPT P Centromere protein T 611510 R, REc
16.498 11 11 14 16q22.1 CES2 P Carboxylesterase 2 605278 R, REc
16.499 10 3 11 16q22.1 CHTF8, CTF8 P Chromosome transmission fidelity factor 8, S. cerevisiae, homolog of 613202 REc
16.500 9 28 15 16q22.1 CLEC18A P C-type lecting domain family 18, member A 616571 REc
16.501 9 28 15 16q22.1 CLEC18C P C-type lectin domain family 18, member C 616573 REc
16.502 10 12 10 16q22.1 COG4, COD1, CDG2J P Component of oligomeric golgi complex 4 606976 R Congenital disorder of glycosylation, type IIj, 613489 (3)
16.503 7 10 07 16q22.1 COG8, DOR1, CDG2H C Component of oligomeric golgi complex 8 606979 R, REc Congenital disorder of glycosylation, type IIh, 611182 (3)
16.504 2 23 09 16q22.1 CRCS9 P Colorectal cancer, susceptibility to, 9 612590 Fd associated with rs9929218 {Colorectal cancer, susceptibility to, 9} (2)
16.505 11 5 13 16q22.1 CTCF, MRD21 P CCCTC-binding factor 604167 A Mental retardation, autosomal dominant 21, 615502 (3)
16.506 11 4 93 16q22.1 CTRL P Chymotrypsin-like protease 118888 REn
16.507 4 23 08 16q22.1 CYB5B, CYPB5M P Cytochrome b5, type B (outer mitochondrial membrane) 611964 REc
16.508 3 10 03 16q22.1 DDX28, MDDX28 P DEAD/H box 28 607618 REc
16.509 3 1 06 16q22.1 DPEP2, MBD2 P Dipeptidase 2 609925 R, REc
16.510 3 1 06 16q22.1 DPEP3, MBD3 P Dipeptidase 3 609926 REc
16.511 12 28 08 16q22.1 DUS2L, DUS2 P Dihydrouridine synthase 2-like 609707 R, REc
16.512 10 2 95 16q22.1 E2F4 P E2F transcription factor 4, p107/p130-binding 600659 A
16.513 10 2 12 16q22.1 EDC4, RCD8, GE1, HEDL5 P Enhancer of mRNA decapping 4 606030 REc, R
16.514 9 10 09 16q22.1 ESRP2, RBM35B P Epithelial splicing regulatory protein 2 612960 REc
16.515 9 8 11 16q22.1 EXOC3L1, EXOC3L P Exocyst complex component 3-like 1 614117 REc 8(Exoc3l1)
16.516 6 1 12 16q22.1 EXOSC6, MTR3 P Exosome component 6 606490 REc
16.517 8 31 12 16q22.1 FAM96B, MIP18 P Family with sequence similarity 96, member B 614778 REc
16.518 6 13 12 16q22.1 FBXL8, FBL8 P F-box and leucine-rich repeat protein 8 609077 REc
16.519 6 18 99 16q22.1 HAS3 P Hyaluronan synthase 3 602428 Psh, REc 8(Has3)
16.520 7 22 11 16q22.2 HP C Haptoglobin 140100 Fc just distal to fra16q22.1 [Anhaptoglobinemia], 614081 (3); [Hypohaptoglobinemia], 614081 (3) 8(Hp)
16.521 1 12 89 16q22.2 HPR C Haptoglobin-related locus 140210 REa 2.2kb 3' to HP; multiple tandem genes in blacks
16.522 5 25 13 16q13 NLRC5 P NLR family, caspase recruitment domain-containing 5 613537 REc
16.523 6 25 08 16q22.1 IL34, C16orf77 P Interleukin 34 612081 REc
16.524 5 29 02 16q22.1 LCAT C Lecithin-cholesterol acyltransferase 606967 F, LD, A, REa very close to HP Norum disease, 245900 (3); Fish-eye disease, 136120 (3) 8(Lcat)
16.525 5 16 05 16q22.1 LYPLA3, LLPL, ACS, LPLA2 P Lysophospholipase 3 609362 R, REc
16.526 11 4 93 16q22.1 MECL1, LMP10, PSMB10 P Proteosome subunit MECL1 176847 REn 3.1kb from LCAT 8(Psmb10)
16.527 3 23 09 16q22.1 MIR140, MIRN140 P Micro RNA 140 611894 REc
16.528 1 20 11 16q22.1 MIR328, MIRN328 P Micro RNA 328 613701 REc
16.529 5 23 16 16q22.1 MTSS1L, ABBA1 P Metastasis suppressor 1-like protein 616951 REc
16.530 5 25 13 16q22.1 NFAT5, KIAA0827, NFATL1, TONEBP P Nuclear factor of activated T cells 5 604708 REc
16.531 9 24 08 16q22.1 NQO1, DIA4, NMOR1 C NAD(P)H dehydrogenase, quinone 1 (diaphorase-4) 125860 S, REa, Ch {Benzene toxicity, susceptibility to} (3); {Leukemia, post-chemotherapy, susceptibility to} (3); {Breast cancer, poor survival after chemotherapy for} (3) 8(Nmor1)
16.532 12 10 13 16q22.1 PDP2, KIAA1348 P Pyruvate dehydrogenase phosphatase catalytic subunit 2 615499 R, REc
16.533 1 17 18 16q22.1 PDPR, KIAA1990 P Pyruvate dehydrogenase phosphatase regulatory subunit 617835 REc
16.534 11 3 09 16q22.1 PLEKHG4 P Pleckstrin homology domain containing, family G (puratrophin 1) 609526 REc
16.535 10 18 16 16q22.1 PRMT7, KIAA1933, SBIDDS P Protein arginine N-methyltransferase 7 610087 REc Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3)
16.536 10 27 93 16q22.1 PSKH1 P Putative serine kinase H1 177015 REn
16.537 9 8 11 16q22.1 RANBP10, KIAA1464 P Ran-binding protein 10 614031 REc
16.538 10 13 97 16q22.1 SCA4 C Spinocerebellar ataxia 4 600223 Fd Spinocerebellar ataxia 4 (2)
16.539 6 5 12 16q22.1 SF3B3, SF3B130, SAP130 P Splicing factor 3B, subunit 3 605592 R, REc
16.540 6 27 95 16q22.1 SLC9A5, NHE5 P Solute carrier family 9 (sodium/hydrogen exchanger), member 5 600477 REa, A, Fd
16.541 8 17 99 16q22.1 SLC12A4, KCC1 P Solute carrier family 12 (potassium/chloride transporters), member 4 604119 REn
16.542 2 2 17 16q22.1 TERB1, CCDC79 P Telomere repeat-binding bouquet formation protein 1 617332 REc
16.543 6 22 99 16q22.1 TERF2, TRF2 P Telomeric repeat-binding factor-2 602027 Psh, R 8(Terf2)
16.544 9 30 13 16q22.1 THAP11, RONIN P THAP domain-containing protein 11 609119 REc
16.545 6 2 16 16q22.1 TPPP3, p20 P Tubulin polymerization-promoting protein family, member 3 616957 REc
16.546 12 6 16 16q22.1 TSNAXIP1, TXI1 P Translin-associated factor X-interacting protein 1 607720 REc
16.547 8 1 16 16q22.1-q22.2 VAC14, TAX1BP2, TRX, SNDC P Vac14, S. cerevisiae, homolog of 604632 R, REc Striatonigral degeneration, childhood-onset, 617054 (3)
16.548 6 30 05 16q22.1 ZFP90, NK10, KIAA1954 P Zinc finger protein 90, mouse, homolog of 609451 REc, H 8(Zfp90)
16.549 5 21 07 16q24.3 TRAPPC2L P Trafficking protein particle complex 2-like 610970 REc
16.550 9 17 09 16q22.2 TAT C Tyrosine aminotransferase, soluble 613018 REa, A, H, D Tyrosinemia, type II, 276600 (3) 8(Tat)
16.551 12 7 07 16q22.1-q23.1 OTSC4 P Otosclerosis 4 611571 Fd between D16S3107 and D16S3097 {Otosclerosis 4} (2)
16.552 12 7 04 16q22.2 PKD1L3 P Polycystin 1-like 3 607895 REc 8(Pkd1l3)
16.553 10 24 11 16q22.2 ATXN1L, BOAT1 P Ataxin 1-like (brother of ataxin 1) 614301 REc
16.554 2 4 15 16q22.2 CMTR2, MTR2, FTSJD1 P CAP methyltransferase 2 616190 REc
16.555 10 25 12 16q22.2 HYDIN, HYDIN1, CILD5 C Hydin, mouse, homolog of 610812 REc, H, Fd duplicated copy on 1q21.1 Ciliary dyskinesia, primary, 5, 608647 (3) 8(Hydin)
16.556 6 23 15 16q22.2 IST1, KIAA0174 P Increased sodium tolerance 1, yeast, homolog of 616434 R, REc
16.557 7 22 11 16q22.2 MARVELD3 P Marvel domain-containing protein 3 614094 REc
16.558 10 25 17 16q22.2 TXNL4B, DLP, DIM2 C Thioredoxin-like 4B 617722 REc
16.559 6 18 01 16q23.1 ADAT1 P Adenosine deaminase, tRNA-specific, 1 604230 R
16.560 1 27 04 16q23.1 CFDP1, CP27, BCNT C Craniofacial development protein 1 608108 REc, Psh, A
16.561 10 7 14 16q23.1 KARS, CMTRIB, DFNB89 C Lysyl-tRNA synthetase 601421 Psh, A, R mutation identified in 1 CMTRIB patient ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3); Deafness, autosomal recessive 89, 613916 (3)
16.562 9 24 15 16q23.1 CLEC18B P C-type lectin domain family 18, member B 616572 REc
16.563 2 2 14 16q22.3 HCCAT5, HTA P Hepatocellular carcinoma-associated transcript 5 615613 REc
16.564 8 21 07 16q22.2 PHLPPL, PHLPP2 P PH domain and leucine-rich repeat protein phosphatase-like 611066 REc
16.565 9 20 04 16q22.3-q23.1 KTCN2 P Keratoconus 2 608932 Fd Keratoconus 2 (2)
16.566 2 28 03 16q23.1 GABARAPL2 P GABA-A receptor-associated protein-like protein 2 607452 R
16.567 1 22 15 16q22.2-q22.3 ZFHX3, ATBF1 C Zinc finger homeobox 3 104155 A, D {Prostate cancer, susceptibility to, somatic}, 176807 (3) 8(Atbf1)
16.568 11 11 13 16q23.1 ADAMTS18, MMCAT P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 18 607512 REc Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
16.569 9 18 00 16q22.2 AP1G1, ADTG, CLAPG1 P Adaptor-related protein complex 1, gamma 1 subunit (adaptin, gamma) 603533 A, Psh
16.570 5 4 09 16q23 BMND13 P Bone mineral density quantitative trait locus 13 612727 Fd associated with rs16945612 [Bone mineral density QTL 13] (2)
16.571 11 3 14 16q21 CKLF, HSPC224 P Chemokine-like factor 616074 R, REc
16.572 8 27 15 16q23.1 CLEC3A, CLECSF1 P C-type lectin domain family 3, member A 613588 A
16.573 5 23 11 16q23.1 FA2H, FAAH, FAXDC1, FAH1, SCS7, SPG35 P Fatty acid 2-hydroxylase 611026 R, REc Spastic paraplegia 35, autosomal recessive, 612319 (3) 8(Fa2h)
16.574 2 2 11 16q23 HSCR8 P Hirschsprung disease, susceptibility to, 8 608462 LD {Hirschsprung disease, susceptibility to, 8} (2)
16.575 8 24 98 16q23.1 PSMD7, MOV34 P Proteasome 25S subunit, non-ATPase, 7 (Moloney leukemia virus-34 proviral integration homolog) 157970 REa, A 8(Mov34)
16.576 5 25 00 16q23.1 BCAR1, CRKAS, CAS P Breast cancer antiestrogen resistance 1 602941 A, Psh
16.577 4 8 13 16q23.1 MLKL P Mixed lineage kinase domain-like protein 615153 REc
16.578 6 7 10 16q23.1 MON1B, SRG1, KIAA0872 P Mon1, S. cerevisiae, homolog of, B 608954 REc
16.579 11 29 17 16q23.1 RFWD3, FANCW P RING finger and WD repeat domains-containing protein 3 614151 REc mutation identified in 1 FANCW patient ?Fanconi anemia, complementation group W, 617784 (3)
16.580 6 24 10 16q23.1 TERF2IP, RAP1 P Telomeric repeat binding factor 2, interacting protein 605061 R, REc
16.581 7 21 14 16q23.1 TMEM231, JBTS20, MKS11 P Transmembrane protein 231 614949 REc Joubert syndrome 20, 614970 (3); Meckel syndrome 11, 615397 (3)
16.582 4 20 17 16q23.1 WDR59, KIAA1923 P WD repeat-containing protein 59 617418 REc
16.583 12 5 16 16q23.1 ZFP1, ZNF475 P Zinc finger protein 1, mouse, homolog of 617230 REc
16.584 6 10 08 16q23.1 ZNRF1, NIN283 P Zinc finger and ring finger protein 1 612060 REc
16.585 7 20 12 16q23.2 ATMIN, ASCIZ, KIAA0431 C ATM interactor 614693 R, REc
16.586 10 8 07 16q23.2 CENPN P Centromere protein N 611509 REc
16.587 3 13 15 16q23.2 MAFTRR, lincMAF4 P MAF transcriptional regulator FNA, noncoding 616264 REc
16.588 3 31 15 16q23.2 PKD1L2, PC1L2, KIAA1879 P Polycystin 1-like 2 607894 REc, REn 8(Pkd1l2)
16.589 6 21 91 16q23.1 CTRB1 C Chymotrypsinogen B1 118890 REa, H, D, Fd, Ch HP-7cM-TAT-9cM-CTRB 8(Ctrb)
16.590 3 31 11 16q23.3 ADIPQTL5 P Adiponectin, serum level of, quantitative trait locus 5 613836 Fd associated with rs3865188 {Adiponectin, serum level of, QTL5] (2)
16.591 2 21 06 16q23.2 DYNLRB2, DNCL2B P Dynein, light chain, roadblock-type 2 607168 REc
16.592 3 25 14 16q23.3 HSBP1 P Heat-shock factor-binding protein 1 604553 REc
16.593 3 23 14 16q23.3 OSGIN1, OKL38 P Oxidative stress-induced growth inhibitor 1 607975 REc
16.594 12 30 14 16q23.3 SDR42E1 P Short-chain dehydrogenase/reductase family 42E, member 1 616164 REc
16.595 4 10 14 16q23.3 SLC38A8, FVH2 P Solute carrier family 38 (amino acid transporter), member 8 615585 REc Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
16.596 2 25 16 16q23.1-q23.2 WWOX, FOR, SCAR12, EIEE28 C WW domain-containing oxidoreductase 605131 REc, H, Ch, Fd Esophageal squamous cell carcinoma, somatic, 133239 (3); Spinocerebellar ataxia, autosomal recessive 12, 614322 (3); Epileptic encephalopathy, early infantile, 28, 616211 (3) 8(Wox1, Fra8E1)
16.597 9 10 98 16q24.3 AFG3L1, AFG3 P ATPase family gene 3, yeast, homolog of 603020 A, R
16.598 10 30 07 16q24.2 BANP, SMAR1 P BTG3-associated nuclear protein 611564 A 8(Banp)
16.599 6 15 99 16q24.3 CBFA2T3, MTGR2, MTG16 C Core-binding factor, alpha subunit 2, translocated to, 3 603870 R, A
16.600 10 1 17 16q24.3 CDK10, PISSLRE, ALSAS P Cyclin-dependent kinase 10 603464 RE Al Kaissi syndrome, 617694 (3)
16.601 2 13 09 16q23.2-q23.3 CMIP, KIAA1694, TCMIP C C-MAF-inducing protein 610112 R, REc
16.602 7 9 90 16q24.2 CYBA C Cytochrome b-245, alpha polypeptide 608508 REa, A Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
16.603 8 18 09 16q24.1 FOXF1, FKHL5, ACDMPV P Forkhead box F1 601089 A Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3) 8(Foxf1)
16.604 8 29 01 16q23.2 GCSH, NKH P Glycine cleavage system H protein 238330 A Glycine encephalopathy, 605899 (3)
16.605 4 5 00 16q24.2 IL17C P Interleukin 17C 604628 R
16.606 4 4 01 16q23.3-q24.1 MBTPS1, S1P C Membrane-bound transcription factor protease, site 1 603355 REa, A, R
16.607 3 26 02 16q23.3 MLYCD, MCD P Malonyl-CoA decarboxylase 606761 R, Psh Malonyl-CoA decarboxylase deficiency, 248360 (3)
16.608 9 3 10 16q24 STQTL22 P Stature quantitative trait locus 22 613547 Fd linked to rs299956 and rs2076962 {Stature QTL 22} (2)
16.609 2 1 01 16q24.1 TAF1C, TAFI110, SL1 C TATA box-binding protein-associated factor 1C 604905 R, A
16.610 4 21 10 16q24.1 USP10, KIAA0190 P Ubiquitin-specific protein 10 609818 R, REc
16.611 6 11 08 16q24.2 ZNF469, KIAA1858, BCS1 C Zinc finger protein 469 612078 Fd, R, REc Brittle cornea syndrome 1, 229200 (3)
16.612 10 13 09 16q24.1 ATP2C2, SPCA2, KIAA0703 P ATPase, Ca(2+)-transporting, type 2C, member 2 613082 R, REc
16.613 2 1 11 16q24.1 COTL1, CLP P Coactosin-like protein 1 606748 R, Psh, REc pseudogenes on 15, 17, and Y
16.614 12 4 08 16q24.1 CRISPLD2 P Cysteine-rich secretory protein, LCCL domain-containing, 2 612434 REc
16.615 10 12 16 16q24.1 DNAAF1, LRRC50, ODA7, CILD13 P Dynein, axonemal, assembly factor 1 613190 REc Ciliary dyskinesia, primary, 13, 613193 (3)
16.616 2 25 15 16q24.1 EMC8, NOC4 P ER membrane protein complex subunit 8 604886 REc
16.617 12 27 16 16q24.1 FAM92B P Family with sequence similarity 92, member B 617274 REc
16.618 5 30 17 16q24.1 FENDRR, FOXF1AS1, TCONS_00024240 P FOXF1 adjacent noncoding developmental regulatory RNA 614975 REc partial overlap with FOXF1 promoter
16.619 5 4 09 16q24.1 FOXL1, FKHL11, FREAC7, FKH6 P Forkhead box L1 603252 REc 8(Foxl1)
16.620 11 2 00 16q23.2 GAN, GAN1 C Gigaxonin 605379 Fd, LD, REc Giant axonal neuropathy-1, 256850 (3)
16.621 11 30 06 16q24.1 GINS2, PSF2 P GINS complex subunit 2 610609 R, REc
16.622 3 30 16 16q24.1 GSE1, KIAA0182 C GSE1 coiled-coil protein 616886 REc
16.623 4 23 03 16q24.1 HDLC3 P High density lipoprotein cholesterol, low serum, 3 607687 Fd {High density lipoprotein cholesterol, low serum, 3} (2)
16.624 9 8 14 16q24.1 IRF8, ICSBP1, IMD32A, IMD32B P Interferon regulatory factor 8 601565 REc Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3); Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 614894 (3)
16.625 3 10 03 16q24.1 KCNG4, KV6.3, KV6.4 P Potassium channel, voltage-gated, subfamily G, member 4 607603 REc
16.626 12 17 07 16q24.1 KIAA0513 P KIAA0513 gene 611675 R, REc
16.627 2 16 16 16q24.1 MTHFSD P Methenyltetrahydrofolate synthetase domain-containing protein 616820 REc
16.628 10 25 12 16q23.3 PLCG2, FCAS3, APLAID P Phospholipase C, gamma 2 600220 Psh Familial cold autoinflammatory syndrome 3, 614468 (3); Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3) 8(Plcg2)
16.629 1 14 13 16q24.1 TCONS00024492 P Long noncoding RNA TCONS_00024492 614978 REc
16.630 8 14 14 16q24.1 LINC01081, TCONS00024764 P Long intergenic non-protein coding RNA 1081 614977 REc
16.631 4 27 12 16q24.1 ZDHHC7, DHHC7 P Zinc finger DHHC domain-containing protein 7 614604 REc
16.632 7 11 95 16q23.3 HSD17B2, EDH17B2 C Hydroxysteroid (17-beta) dehydrogenase 2 109685 A, Fd
16.633 3 15 13 16q24.2 MAP1LC3B, LC3B P Microtubule-associated protein 1, light chain 3, beta 609604 R, REc
16.634 1 13 99 16q23.3 CDH13, CDHH P Cadherin-13 (H-cadherin, heart) 601364 A
16.635 11 23 16 16q24.2-q24.3 RNF166 P RING finger protein 166 617178 REc
16.636 10 1 11 16q24.3 ACSF3 P Acyl-CoA synthetase family member 3 614245 REc Combined malonic and methylmalonic aciduria, 614265 (3)
16.637 9 21 11 16q24.3 ANKRD11, ANCO1, KBGS P Ankyrin repeat domain-containing protein 11 611192 REc KBG syndrome, 148050 (3)
16.638 9 21 12 16q24.3 APRT, APRTD C Adenine phosphoribosyltransferase 102600 S, D, REn telomeric to GALNS, transcribed in same cen-tel direction Adenine phosphoribosyltransferase deficiency, 614723 (3) 8(Aprt)
16.639 4 29 14 16q24.2 CA5A, CA5AD C Carbonic anhydrase VA (mitochondrial) 114761 Psh, A pseudogene on 16p Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3) 8(Car5)
16.640 2 17 09 16q24.3 CDH15, CDH14, CDH3, MRD3 P Cadherin-15, M-cadherin (myotubule) 114019 REa, Psh tightly linked to Aprt in mouse Mental retardation, autosomal dominant 3, 612580 (3) 8(Cdh3)
16.641 3 15 11 16q24.3 CDT1 C Chromatin licensing and DNA replication factor 1 605525 REc Meier-Gorlin syndrome 4, 613804 (3)
16.642 12 15 12 16q24.3 CHMP1A, PCOLN3, PRSM1, PCH8 P CHMP family, member 1A 164010 Psh, REa Pontocerebellar hypoplasia, type 8, 614961 (3)
16.643 2 28 01 16q24.3 CPNE7 P Copine VII 605689 D
16.644 4 25 93 16q24.3 DPEP1, RDP, MDP, MBD1 C Dipeptidase 1 179780 A, REa, Fd
16.645 1 27 03 16q24.3 FANCA, FACA, FA1, FA, FAA C Fanconi anemia, complementation group A 607139 Fd, LD linkage heterogeneity Fanconi anemia, complementation group A, 227650 (3) 8(Fanca)
16.646 9 22 14 16q24.2 FBXO31, FBX31, FBXO14, FBX14, MRT45 P F-box only protein 31 609102 REc mutation identified in 1 MRT45 family ?Mental retardation, autosomal recessive 45, 615979 (3) 8(Fbxo31)
16.647 6 27 08 16q24.1 FOXC2, FKHL14, MFH1 C Forkhead box C2 602402 A, Fd, Ch Lymphedema-distichiasis syndrome, 153400 (3); Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3) 8(Mfh1)
16.648 9 18 08 16q24.3 GALNS, MPS4A C Galactosamine (N-acetyl)-6-sulfate sulfatase 612222 A, Psh, REn centromeric to APRT Mucopolysaccharidosis IVA, 253000 (3)
16.649 1 11 16 16q24.3 GAS8, GAS11, CILD33 P Growth arrest-specific 8 605178 REc Ciliary dyskinesia, primary, 33, 616726 (3)
16.650 8 17 17 16q24.3 GAS8-AS1, C16orf3, EID1 P GAS8 antisense RNA 1 605179 REc
16.651 1 24 09 16q24.3 IHPS5 P Pyloric stenosis, infantile hypertrophic, 5 612525 Fd between rs7197068 and rs750740 Pyloric stenosis, infantile hypertrophic, 5 (2)
16.652 5 19 17 16q24.2 JPH3, JP3, HDL2 C Junctophilin 3 605268 A mutation identified in 1 HDL2 family ?Huntington disease-like 2, 606438 (3)
16.653 11 30 11 16q24.3 MC1R, SHEP2, CMM5 C Melanocortin-1 receptor (alpha melanocyte-stimulating hormone receptor) 155555 A [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3); [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3); [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3); {UV-induced skin damage}, 266300 (3); {Albinism, oculocutaneous, type II, modifier of}, 203200 (3); {Melanoma, cutaneous malignant, 5}, 613099 (3) 8(Mc1r)
16.654 11 18 15 16q24.2 MVD, MPD, POROK7 P Mevalonate pyrophosphate decarboxylase 603236 REc, Fd Porokeratosis 7, multiple types, 614714 (3)
16.655 4 27 12 16q24.3 PGN, SPG7, CMAR, CAR P Paraplegin 602783 Fd, REc Spastic paraplegia 7, autosomal recessive, 607259 (3)
16.656 3 3 16 16q24.3 PIEZO1, FAM38A, MIB, DHS, LMPH3 P PIEZO1 ion channel 611184 REc Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3); Lymphedema, hereditary, III, 616843 (3)
16.657 4 10 11 16q24.3 RPL13, BBC1, D16S44E P Ribosomal protein L13 113703 REc
16.658 2 19 99 16q24.2 SLC7A5, D16S469E, MPE16 P Solute carrier family 7, member 5 600182 REa
16.659 5 5 09 16q24.2 SNAI3, SNAIL3, SMUC, ZFP293 P SNAIL, Drosophila, homolog of, 3 612741 REc
16.660 9 23 13 16q24.3 SPATA33, C16orf55 P Spermatogenesis-associated protein 33 615409 REc
16.661 10 7 08 16q24.3 TCF25, NULP1, KIAA1049 C Transcription factor 25 612326 R, REc
16.662 9 23 13 16q24.3 TUBB3, TUBB4, CFEOM3A, CDCBM1 P Tubulin, beta-3 602661 REc Fibrosis of extraocular muscles, congenital, 3A, 600638 (3); Cortical dysplasia, complex, with other brain malformations 1, 614039 (3)
16.663 6 22 14 16q24.3 URAHP, URAH P Urate (hydroxyiso-) hydrolase, pseudogene 615805 REc
16.664 10 13 00 16q24.1 WFDC1, PS20 C WAP four-disulfide core domain-1, mouse, homolog of 605322 A
16.665 2 16 04 16q24.3 ZFP276 P Zinc finger protein 276 608460 REn
16.666 2 28 03 16q24.2 ZFPM1, FOG, FOG1 P Zinc finger protein, multitype 1 (friend of GATA1) 601950 REc
16.667 8 27 01 16q22.1 DDX19, DBP5 P DEAD/H box 19 605812 R
16.668 9 30 02 16p12.2 EEF2K P Elongation factor 2 kinase 606968 R
16.669 11 2 01 16q22.1 ELMO3 P Engulfment and cell motility gene 3 606422 REc
16.670 10 23 87 Chr.16 ESB3 P Esterase-B3 133290 S 8(Es6)
16.671 6 14 95 Chr.16 GRLL1 P Glucocorticoid receptor-like 1 138060 REb
16.672 8 21 91 Chr.16 IFNR P Interferon production regulator 147573 REa, S
16.673 1 27 03 16q23.1 LDHD P D-lactate dehydrogenase 607490 R
16.674 10 23 87 Chr.16 LIPB P Lipase B, lysosomal acid 247980 S
16.675 1 30 01 16q23.3 MPHOSPH6, MPP P M-phase phosphoprotein 6 605500 R
16.676 8 30 01 16q13 MT4, MTIV P Metallothionein 4 606206 A 8(Mt4)
16.677 9 3 02 16q22.1 NFATC3 P Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 3 602698 R
16.678 10 23 87 Chr.16 NHCP1 P Nonhistone chromosomal protein-1 118870 S
16.679 2 15 01 16q22.1 SLC7A6 P Solute carrier family 7 (y+L-type amino acid transporter), member 6 605641 R
16.680 9 25 01 16p13.3 SRRM2, SRM300, KIAA0324 C Serine/arginine repetitive matrix 2 (ser/arg-rich splicing factor-related nuclear matrix protein, 300kD) 606032 R, REc
16.681 9 2 09 1p36.13 TRNAG1, TRG1 P tRNA glycine-1 189911 REa
16.682 7 17 91 Chr.16 VDI, DIPI P Vesicular stomatitis virus defective interfering particle repressor 125260 S
16.683 2 25 02 16p11.2 ZNF267, HZF2 P Zinc finger protein-167 604752 R
17.1 8 15 03 17p13.2 ASPA C Aspartoacylase (aminoacylase-2) 608034 A Canavan disease, 271900 (3)
17.2 9 10 14 17p13.2 ENO3, GSD13 C Enolase-3, beta, muscle 131370 REa, A mutation identified in 1 GSD13 patient ?Glycogen storage disease XIII, 612932 (3)
17.3 1 24 09 17p13.2 GP1BA, BSS, BDPLT1, VWDP, BDPLT3 C Glycoprotein Ib, platelet, alpha polypeptide 606672 A Bernard-Soulier syndrome, type A1 (recessive), 231200 (3); {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3); Bernard-Soulier syndrome, type A2 (dominant), 153670 (3); von Willebrand disease, platelet-type, 177820 (3)
17.4 12 21 09 17p13.3 PLI, SERPINF2 P Alpha-2-plasmin inhibitor 613168 Psh Alpha-2-plasmin inhibitor deficiency, 262850 (3)
17.5 10 12 90 17p13.2 ZFP3 P Zinc finger protein-3 194480 REa probably in cluster with ZNF29 proximal to TP53 11(Zfp3)
17.6 3 26 95 17p13.3 ABR C Active BCR-related gene 600365 A
17.7 5 12 99 17p13.2 ALOX15 P Arachidonate 15-lipoxygenase 152392 Psh 11(Alox15)
17.8 8 12 98 17p13.2 ATP2A3, SERCA3 P ATPase, Ca(2+)-transporting, ubiquitous 601929 A
17.9 1 23 96 17p13.3 BCPR P Breast cancer-related regulator of TP53 113721 D Breast cancer (1)
17.10 7 25 16 17p13.3 BHLHA9, BHLHF42, MSSD, CCSPD P Basic helix-loop-helix family, member A9 615416 REc mutation identified in 1 CCSPD family Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3); ?Camptosynpolydactyly, complex, 607539 (3)
17.11 10 12 17 17p13.2 C1QBP, HABP1, COXPD33 C Complement component C1q binding protein (hyaluronic acid-binding protein 1) 601269 A, Psh Combined oxidative phosphorylation deficiency 33, 617713 (3)
17.12 2 3 15 17p13.3 CLUH, CLU1, KIAA0664 P Clustered mitochondria, D. discoideum, homolog of 616184 R, REc
17.13 11 4 93 17p13.3 CRK P Avian sarcoma virus CT10 (v-crk) oncogene homolog 164762 A
17.14 2 2 18 17p13.3 DDD3 P Dowling-Degos disease 3 615674 Fd max lod at D17S1529 Dowling-Degos disease 3 (2)
17.15 1 12 07 17p13.3 DOC2B P Double C2-like domain-containing protein, beta 604568 REc
17.16 4 21 16 17p13.3 DPH1, DPH2L1, OVCA1, DEDSSH P DPH1, S. cerevisiae, homolog of (ovarian cancer gene 1) 603527 REf Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3)
17.17 3 23 18 17p13.3 GEMIN4, NEDMCR P Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 606969 REc Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
17.18 4 4 17 17p13.3 INPP5K, SKIP, MDCCAID P Inositol polyphosphate-5-phosphatase K 607875 Psh, A Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3)
17.19 5 13 10 17p13.3 MDLS, MDS, MDCR, DEL17p13.3, C17DELp13.3 P Miller-Dieker lissencephaly syndrome (chromosome 17p13.3 deletion syndrome) 247200 Ch Miller-Dieker lissencephaly syndrome (4)
17.20 2 19 10 17p13.3 DUP17p13.3, C17DUPp13.3 P Chromosome 17p13.3 duplication syndrome 613215 Ch includes LIS1 and/or YWHAE Chromosome 17p13.3 duplication syndrome (4)
17.21 2 6 08 17p13.3 FAM57A, CT120 P Family with sequence similarity 57, member A 611627 REc
17.22 8 18 14 17p13.3 FAM101B, CFM1 P Family with sequence similarity 101, member B 615928 REc
17.23 6 16 99 17p13.1 GLP2R P Glucagon-like peptide 2 receptor 603659 A
17.24 6 4 99 17p13.3 HIC1 C Hypermethylated in cancer 603825 A, H 11(Hic1)
17.25 3 23 09 17p13.3 MIR22, MIRN22 P Micro RNA 22 612077 REc
17.26 3 23 09 17p13.3 MIR132, MIRN132 P Micro RNA 132 610016 REc
17.27 7 16 10 17p13.3 MIR212, MIRN212 P Micro RNA 212 613487 REc
17.28 9 18 98 17p13.3 MNT, ROX P MAX-binding protein 603039 REc 11(Mnt)
17.29 5 11 00 17p13.2 MYBBP1A, P160 P MYB-binding protein 1A 604885 A, R 11(Mybbp1a)
17.30 7 22 09 17p13.3 NXN P Nucleoredoxin 612895 REc 11(Nxn)
17.31 8 24 98 17p13.3 OR1D2, OLFR1 C Olfactory receptor, family 1, subfamily D, member 2 164342 A, Fd, REa cluster of 16 genes in 350kb
17.32 3 31 15 17p13.3 OVCA2 P Ovarian cancer-associated gene 2 607896 REc
17.33 7 16 17 17p13.2 P2RX1, P2X1 P Purinergic receptor P2X, ligand-gated ion channel, 1 600845 A, H 11(P2rx1)
17.34 1 3 03 17p13.3 PAFAH1B1, LIS1 C Platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit 601545 Ch, RE, D Lissencephaly 1, 607432 (3); Subcortical laminar heterotopia, 607432 (3)
17.35 12 22 15 17p13.2 PELP1, MNAR C Proline-, glutamic acid-, and leucine-rich protein 1 609455 REc
17.36 9 10 12 17p13.2 PFN1, ALS18 P Profilin-1 176610 REa, A, D Amyotrophic lateral sclerosis 18, 614808 (3) 11(Pfn1)
17.37 9 7 10 17p13.3 PITPNA, PITPN P Phosphotidylinositol transfer protein, alpha 600174 Psh, A 11(Pitpn)
17.38 3 31 15 17p13.3 RILP P RAB-interacting lysosomal protein 607848 R, REc 11(Rilp)
17.39 2 28 03 17p13.3 PRPF8, PRPC8, RP13 C Precursor mRNA-processing factor 8, S. cerevisiae, homolog of 607300 Fd, REc Retinitis pigmentosa 13, 600059 (3)
17.40 2 17 09 17p13.3 RNMTL1, HC90 P RNA methyltransferase-like 1 612600 REc
17.41 4 11 94 17p13.3 RPA1 P Replication protein A1, 70kD 179835 Psh, R, A
17.42 7 14 00 17p13.3 RPH3AL, NOC2 P Rabphilin 3A-like 604881 REc
17.43 5 24 13 17p13.3 RTN4RL1, NGRH2, NGR3 P Reticulon 4 receptor-like 1 610461 REc
17.44 3 13 08 17p13.3 SCARF1, SREC, KIAA0149 P Scavenger receptor class F, member 1 607873 R, REc
17.45 2 2 12 17p13.3 SERPINF1, PEDF, OI6 C Serpin peptidase inhibitor, clade F, member 1 172860 REa, A, Psh same region as RP13 Osteogenesis imperfecta, type VI, 613982 (3)
17.46 9 24 11 17p13.3 SGSM2, KIAA0397 P Small G protein signaling modulator 2 611418 REc, R
17.47 10 20 99 17p13.2 SLC25A11, SLC20A4, OGC P Solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 604165 A
17.48 3 8 07 17p13.3 SLC43A2, LAT4 P Solute carrier family 43 (L-type amino acid transporter, member 2 610791 REc
17.49 5 21 07 17p13.3 SMG6, EST1A, KIAA0732 P SMG6, C. elegans, homolog of 610963 REc
17.50 12 27 01 17p13.3 SRR P Serine racemase 606477 R
17.51 9 16 13 17p13.3 TIMM22, TIM22 P Translocase of inner mitochondrial membrane 22, yeast, homolog of 607251 R, REc
17.52 1 8 01 17p13.2 TM4SF5 P Transmembrane 4 superfamily, member 5 604657 REa, R
17.53 12 14 98 17p13.1 TNFSF12, TWEAK, APO3L, DR3LG C Tumor necrosis factor ligand superfamily, member 12 602695 R
17.54 5 24 13 17p13.3 TSR1, KIAA1401 P TSR1, 20S r RNA accumulation, S. cerevisiae, homolog of 611214 REc, R
17.55 9 2 08 17p13.3 TUSC5, LOST1 P Tumor suppressor candidate 5 612211 REc
17.56 6 22 14 17p13.3 VPS53, HCCS1, PCH2E P Vacuolar protein sorting 53, S. cerevisiae, homolog of 615850 REc Pontocerebellar hypoplasia, type 2E, 615851 (3)
17.57 6 4 12 17p13.3 WDR81, CAMRQ2 P WD repeat-containing protein 81 614218 REc Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) 11(Wdr81)
17.58 5 13 10 17p13.3 YWHAE, MDCR, MDS C Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform 605066 A, R, Ch, D 11(Ywhae)
17.59 12 18 14 17p13.3-p13.1 SHFLD3, DUP17p13.3, C17DUPp13.3 P Split-hand/foot malformation with long bone deficiency 3 612576 Fd max lod at or near D17S1533; contiguous gene duplication syndrome Split-hand/foot malformation with long bone deficiency 3 (4)
17.60 5 27 16 17p13.3-p12 MSPC P Palmoplantar carcinoma, multiple self-healing 616964 Fd between rs8065368 and rs2322788 Palmoplantar carcinoma, multiple self-healing (2)
17.61 2 25 15 17p13.2 ANKFY1, ANKHZN, KIAA1255 C Ankyrin repeats- and FYVE domain-containing protein 1 607927 R, A, REc
17.62 10 8 07 17p13.2 CAMTA2, KIAA0909 P Calmodulin-binding transcription activator 2 611508 R, REc
17.63 5 24 13 17p13.2 DERL2 P DER1-like domain family, member 2 610304 REc
17.64 1 1 12 17p13.2 DHX33 P DEAH box polypeptide 33 614405 REc
17.65 9 9 08 17p13.1 FBXO39, FBX39 P F-box protein 39 609106 REc 11(Fbxo39)
17.66 10 9 08 17p13.2 GGT6 P Gamma-glutamyltransferase 6 612341 REc
17.67 1 12 11 17p13.1 HES7, SCDO4 P Hairy/enhancer of split, Drosophila, homolog of, 7 608059 H, REc Spondylocostal dysostosis 4, autosomal recessive, 613686 (3) 11(Hes7)
17.68 1 24 06 17p13.1 KCTD11, REn C Potassium channel tetramerization domain-containing protein 11 609848 REc, H 11(Kcntd11)
17.69 2 2 14 17p13.2 KIF1C, LTXS1, KIAA0706, SPAX2 P Kinesin family member 1C 603060 REc Spastic ataxia 2, autosomal recessive, 611302 (3)
17.70 11 7 08 17p13.2 MED11 P Mediator complex subunit 11 612383 REc
17.71 2 2 16 17p13.2 MIS12 P Mis12, S. pombe, homolog of 609178 R, REc
17.72 10 28 15 17p13.2 NCBP3, C17orf85 P Nuclear cap-binding protein 3 616624 REc
17.73 8 8 17 17p13.2 PIMREG, RCS1, FAM64A P PICALM-interacting mitotic regulator 617611 REc
17.74 9 16 17 17p13.2 PSMB6, LMPY C Proteasome subunit, beta-type, 6 600307 REc, A
17.75 5 24 13 17p13.2 RNF167, RING105 P RING finger protein 167 610431 R, REc
17.76 1 1 12 17p13.2 SCIMP, C17orf87 P SLP adaptor- and CSK-interacting membrane protein 614406 REc
17.77 4 29 14 17p13.1 SLC16A11, MCT11 P Solute carrier family 16, member 11 615765 REc
17.78 1 31 13 17p13.2 SLC52A1, GPR172B, GPCR42, PAR2, FLJ10060, RBFVD P Solute carrier family 52, riboflavin transporter, member 1 607883 REc, R Riboflavin deficiency, 615026 (3)
17.79 8 19 13 17p13.2 SPAG7 P Sperm-associated antigen 7 610056 REc
17.80 9 15 17 17p13.2 SPATA22 P Spermatogenesis-associated protein 22 617673 REc
17.81 2 17 09 17p13.2 SPNS2 P Spinster, Drosophila, homolog of, 2 612584 REc
17.82 1 2 08 17p13.2 SPNS3 P Spinster, Drosophila, homolog of, 3 611701 REc 11(Spns3)
17.83 4 20 11 17p13.2 UBE2G C Ubiquitin-conjugating enzyme E2G (UBC7, C. elegans, homolog of) 601569 R, REc possible pseudogene on 1q42
17.84 5 7 03 17p13.1 XAF1 P XIAP-associated factor 1 606717 A
17.85 7 7 14 17p13.2 ZMYND15, SPGF14 P Zinc finger MYND-containing protein 15 614312 REc, H mutation identified in 1 SPGF14 family ?Spermatogenic failure 14, 615842 (3) 11(Zmynd15)
17.86 7 9 15 17p13.2 ZNF232, ZSCAN11 P Zinc finger protein 232 616463 Psh, REc
17.87 11 19 11 17p13.2-p13.1 MRT33 P Mental retardation, autosomal recessive 33 614341 Fd between rs1367950 and rs1826925 Mental retardation, autosomal recessive 33 (2)
17.88 4 3 09 17p13.2 AIPL1, LCA4 C Arylhydrocarbon-interacting receptor protein-like 1 604392 Fd, REc, A, R LCA1 due to GUCY2D mutation also on 17p13.1 Leber congenital amaurosis 4, 604393 (3); Retinitis pigmentosa, juvenile, 604393 (3); Cone-rod dystrophy, 604393 (3)
17.89 1 25 93 17p13.1 ALOX12 C Arachidonate 12-lipoxygenase 152391 Psh pseudogene also on chr.17
17.90 1 18 13 17p13.1 ALOX12B, ARCI2 C Archidonate 12-lipoxygenase, R type 603741 A, REc Ichthyosis, congenital, autosomal recessive 2, 242100 (3)
17.91 5 25 13 17p13.1 ALOX15B P Arachidonate 15-lipoxygenase, second type 603697 REc
17.92 1 18 13 17p13.1 ALOXE3, ARCI3 P Arachidonate lipoxygenase 3 607206 Fd Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
17.93 3 9 04 17p13.1 ARGEF15, KIAA0915 P Rho guanine nucleotide exchange factor 15 608504 R, REc
17.94 11 2 04 17p13.1 BCL6B, BAZF P B-cell lymphoma 6B 608992 A
17.95 10 23 15 17p13.1 BORCS6, C17orf59, LYSPERSIN P BLOC1-related complex, subunit 6 616599 REc
17.96 11 23 16 17p13.1 C17orf49, BAP18 P Chromosome 17 open reading frame 49 617215 REc
17.97 6 3 14 17p13.1 CNTROB, LIP8 P Centrosomal BRCA2-interacting protein 611425 REc
17.98 5 8 12 17p13.1 CTC1, CRMCC, C17orf68, AAF132 P Conserved telomere maintenance component 1 613129 REc Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3) 11(Aaf132)
17.99 10 4 12 17p13.1 CTDNEP1, DULLARD P C-terminal domain nuclear envelope phosphatase 1 610684 REc
17.100 9 9 10 17p13.1 CLEC10A, CLECSF14, MGL, HML, CD301 P C-type lectin domain family 10, member A 605999 REc
17.101 3 24 11 17p13.1 DEL17p13.1, C17DELp13.1 P Chromosome 17p13.1 deletion syndrome 613776 Ch contiguous gene deletion syndrome Chromosome 17p13.1 deletion syndrome (4)
17.102 12 30 14 17p13.1 DHRS7C, SDR32C2 P Short-chain dehydrogenase reductase family, member 7C 616161 REc
17.103 6 24 02 17p13.1 DLG4, PSD95, SAP90 P Discs large, Drosophila, homolog of, 4 602887 R
17.104 9 27 17 17p13.1 DVL2 P Dishevelled 2 602151 REc, H 11(Dvl2)
17.105 3 7 13 17p13.1 ELP5, DERP6, C17orf81 P Elongator acetyltransferase complex, subunit 5 615019 REc
17.106 10 17 00 17p13.1 FXR2 P Fragile X mental retardation, autosomal homolog-2 605339 REc
17.107 10 1 17 17p13.1 GPS2 P G protein pathway suppressor 2 601935 REc
17.108 4 14 10 17p13.1 GABARAP P GABA-A receptor-associated protein 605125 REc
17.109 12 15 17 17p13.1 GUCY2D, GUC2D, LCA1, CORD6, RCD2, CACD1 C Guanylate cyclase 2D, membrane, retina-specific 600179 Psh, A, Fd mutation identified in 1 CACD1 family Leber congenital amaurosis 1, 204000 (3); Cone-rod dystrophy 6, 601777 (3); ?Central areolar choroidal dystrophy 1, 215500 (3)
17.110 6 6 00 17p13.1 KCNAB3, KCNA3B P Potassium voltage-gated channel, shaker-related subfamily, beta member 3 604111 Psh, REn
17.111 12 19 11 17p13.1 KDM6B, JMJD3, KIAA0346 P Lysine-specific demethylase 6B 611577 REc
17.112 9 22 16 17p13.1 KIAA0753, OFIP, OFD15 P KIAA0753 gene 617112 REc mutation identified in 1 OFD15 patient ?Orofaciodigital syndrome XV, 617127 (3)
17.113 6 30 05 17p13.2 MINK1, MINK P Misshapen/nik-related kinase 1 609426 REc
17.114 3 23 09 17p13.1 MIR195, MIRN195 P Micro RNA 195 610718 REc
17.115 3 7 14 17p13.1 MIR497 P Micro RNA 497 615672 REc
17.116 1 24 93 17p13.1 MYH1 C Myosin, heavy polypeptide-1, skeletal muscle, adult 160730 REa, C cluster = 6 genes in 500kb 11(Myh)
17.117 3 19 15 17p13.1 MYH2, MYPOP C Myosin, heavy polypeptide-2, skeletal muscle, adult 160740 REa, C Proximal myopathy and ophthalmoplegia, 605637 (3)
17.118 7 10 15 17p13.1 MYH3, DA2A, DA2B, DA8 C Myosin, heavy polypeptide-3, skeletal muscle, embryonic 160720 REa Arthrogryposis, distal, type 2A, 193700 (3); Arthrogryposis, distal, type 2B, 601680 (3); Arthrogryposis, distal, type 8, 178110 (3)
17.119 10 4 93 17p13.1 MYH4 P Myosin, heavy polypeptide-4, skeletal muscle 160742 REa, REn
17.120 2 24 15 17p13.1 MYH8, DA7 C Myosin, heavy polypeptide-8, skeletal muscle, perinatal 160741 REa, REn, Fd Carney complex variant, 608837 (3); Trismus-pseudocamptodactyly syndrome, 158300 (3)
17.121 7 17 14 17p13.1 NEURL4, KIAA1787 P Neuralized E3 ubiquitin protein ligase 4 615865 REc
17.122 10 2 12 17p13.1 NTN1, NTN1L P Netrin 1, mouse, homolog of 601614 A, REc
17.123 7 3 06 17p13.1 ODF4, OPPO1 P Outer dense fiber of sperm tails 4 610097 REc, H 11(Odf4)
17.124 5 3 13 17p13.1 PIK3R5, p101 P Phosphatidylinositol 3-kinase, regulatory subunit 5 611317 R, REc Ataxia-oculomotor apraxia 3, 615217 (3)
17.125 9 27 17 17p13.1 PIK3R6, C17orf38 C Phosphatidylinositol 3-kinase, regulatory subunit 6 611462 REc
17.126 6 24 08 17p12 PIRT P Phosphoinositide-interacting regulator of transient receptor potential channels 612068 REc
17.127 8 29 08 17p13.2-p13.1 PITPNM3, NIR1, CORD5 C Phosphatidylinositol transfer protein, membrane-associated, 3 608921 R, A, Fd Cone-rod dystrophy 5, 600977 (3)
17.128 5 24 00 17p13.2 PLD2 P Phospholipase D2 602384 A 11(Pld2)
17.129 3 10 03 17p13.1 PLSCR3 P Phospholipid scramblase 3 607611 REc
17.130 4 27 93 17p13.1 POLR2A, RPOL2 C Polymerase (RNA) II (DNA directed) polypeptide A, 220kD 180660 REa, A, C 11(Rpo21)
17.131 2 25 15 17p13.1 RANGRF, MOG1 P RAN guanine nucleotide release factor 607954 REc
17.132 5 10 93 17p13.1 RCV1 C Recoverin 179618 REa, A 11(Rcvrn)
17.133 8 30 16 17p13.1 RNASEK P Ribonuclease K 617098 REc
17.134 10 13 09 17p13.1 SAT2, SSAT2 P Spermidine/spermine N(1)-acetyltransferase 2 611463 REc
17.135 7 9 09 17p13.1 SENP3 P Sentrin-specific protease family, member 3 612844 REc
17.136 3 12 07 17p13.1 SLC25A35 P Solute carrier family 25, member 35 610818 REc 11(Slc25a35)
17.137 10 11 16 17p13.1 SNORD118, LCC P Small nucleolar RNA, C/D box, 118 616663 REc Leukoencephalopathy, brain calcifications, and cysts, 614561 (3)
17.138 8 28 17 17p13.1 SPDYE4 P SPEEDY/RINGO cell cycle regulator family, member E4 617628 REc 5(Spdye4)
17.139 3 15 13 17p13.1 SPEM1, C17orf83 P Spermatid maturation protein 1 615116 REc
17.140 5 25 00 17p13.1 STK12, ARK2, AIK2, AIM1 P Serine/threonine protein kinase 12 604970 A, R, H 11(Stk12)
17.141 11 2 04 17p13.1 TEKT1 P Tektin 1 609002 REc
17.142 12 15 17 17p13.1 TMEM88 P Transmembrane protein 88 617813 REc
17.143 12 15 17 17p13.1 TMEM95 P Transmembrane protein 95 617814 REc
17.144 7 13 17 17p13.1 TMEM107, MKS13, JBTS29 P Transmembrane protein 107 616183 REc mutation identified in 1 JBTS29 Meckel syndrome 13, 617562 (3); ?Joubert syndrome 29, 617562 (3); Orofaciodigital syndrome XVI, 617563 (3) 11(Tmem107)
17.145 11 11 14 17p13.1 TNFSF13, APRIL, TALL2 P Tumor necrosis factor ligand superfamily, member 13 604472 REn
17.146 9 16 03 17p13.1 TNK1 P Tyrosine kinase, nonreceptor, 1 608076 Psh, A
17.147 1 14 13 17p13.1 TP53, P53, LFS1 , BCC7 C Tumor protein p53 191170 REa, A, D Colorectal cancer, 114500 (3); Li-Fraumeni syndrome, 151623 (3); Hepatocellular carcinoma, 114550 (3); Osteosarcoma, 259500 (3); Choroid plexus papilloma, 260500 (3); Nasopharyngeal carcinoma, 607107 (3); Pancreatic cancer, 260350 (3); Adrenal cortical carcinoma, 202300 (3); Breast cancer, 114480 (3); {Basal cell carcinoma 7}, 614740 (3); {Glioma susceptibility 1}, 137800 (3) 11(Trp53)
17.148 4 26 11 17p13.1 TMEM102, CBAP P Transmembrane protein 102 613936 REc
17.149 11 16 17 17p13.1 TMEM256, C17orf61 P Transmembrane protein 256 617779 REc
17.150 9 2 09 17p13.1 TRNAG2, TRG2 P tRNA glycine-2 610407 A, Psh at least 8 copies in this region
17.151 10 24 14 17p13.1 TRNAK1, TRK1, TRK-TTT3-4 C Transfer RNA lysine (TTT) 3-4 189918 REa, A
17.152 9 2 09 17p13.1 TRNAL2, TRL2 C tRNA leucine-2 189920 REa, A
17.153 9 2 09 17p13.1 TRNAR1, TRR1 P tRNA arginine-1 610406 A, Psh
17.154 9 2 09 17p13.1 TRNAQ1, TRQ1 C tRNA glutamine-1 189919 REa, A
17.155 6 2 16 17p13.1 TXNDC17, TRP14, TXNL5 P Thioredoxin domain-containing protein 17 616967 REc
17.156 12 23 05 17p13.1 WDR16, WDRPUH P WD repeat-containing protein 16 609804 REc
17.157 8 27 15 17p13.1 YBX2, MSY2, CSDA3, DBPC P Y box-binding protein 2 611447 Psh, REc
17.158 9 22 08 17p13.1 ZBTB4, KIAA1538 P Zinc finger and BTB domain-containing 4 612308 R, REc
17.159 2 10 05 17p13.1 MPDU1, SL15, CDGIF C Mannose-P-dolichol utilization defect 1 604041 R Congenital disorder of glycosylation, type If, 609180 (3)
17.160 6 25 99 17p13.1 MYH13 P Myosin, heavy polypeptide 13, skeletal muscle 603487 R, REc 11(Myh13)
17.161 3 16 99 17p13.1 EFNB3, EPLG8, LERK8, EFL6 P Ephrin B3 602297 Psh
17.162 9 12 95 17p11.2 NOS2B P Nitric oxide synthase 2B 600719 Psh
17.163 9 12 95 17q11.2 NOS2C P Nitric oxide synthase 2C 600720 Psh
17.164 9 26 05 17p13.1 ACADVL, VLCAD C Acyl-Coenzyme A dehydrogenase, very long chain 609575 REa, H VLCAD deficiency, 201475 (3) 11(Acadvl)
17.165 11 27 94 17p13.2 ARRB2 P Arrestin, beta 2 107941 A
17.166 6 7 04 17p13 ASPG2 P Asperger syndrome, susceptibility to, 2 608631 Ch breakpoints between CHRNE and GP1BA {Asperger syndrome susceptibility 2} (2)
17.167 12 15 98 17p13.1 CD68 P Macrophage antigen CD68 (macrosialin) 153634 A 11(Cd68)
17.168 5 29 98 17p13.1 CHD3 P Chromodomain helicase DNA binding protein-3 602120 R
17.169 7 22 13 17p13 CTRCT24, CTAA2 P Cataract 24, anterior polar 601202 Fd Cataract 24, anterior polar (2)
17.170 2 28 03 17p13.2 CTNS C Cystinosin 606272 Fd, REc ?3 allelic forms Cystinosis, nephropathic, 219800 (3); Cystinosis, ocular nonnephropathic, 219750 (3); Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3); Cystinosis, atypical nephropathic, 219800 (3)
17.171 11 27 00 17p13.2 CXCL16 P CXC chemokine ligand-16 605398 Psh 11(Cxcl16)
17.172 2 21 06 17p13.1 DNAH2, DNAHC2 P Dynein, axonemal, heavy chain-2 603333 REa, REc 11(Dnach2)
17.173 12 15 98 17p13.1 EIF4A1, DDX2A P Eukaryotic translation initiation factor 4A, isoform 1 602641 A 11(Eif4a1)
17.174 3 18 17 17p13.2 INCA1, HSD45 P Inhibitor of CDK, cyclin A1-interacting protein 1 617374 REc
17.175 8 1 14 17p13.2 ITGAE, CD103 P Integrin, alpha-E 604682 RE 11(Itgae1)
17.176 1 24 93 17p13.1 MYH10 P Myosin, heavy polypeptide-10, non-muscle 160776 REa, A
17.177 12 27 01 17p13.3 MYO1C P Myosin IC 606538 Psh, R
17.178 1 10 18 17p13.2 NLRP1, NALP1, KIAA0926, DEFCAP, CARD7, SLEV1, VAMAS1, MSPC, AIADK C NLR family, pyrin domain containing 1 606636 R, Fd {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3); Palmoplantar carcinoma, multiple self-healing, 615225 (3); Autoinflammation with arthritis and dyskeratosis, 617388 (3)
17.179 12 2 14 17p13 NDNC7 P Nail disorder, nonsyndromic congenital, 7 (onychodysplasia, isolated congenital) 605779 Fd Nail disorder, nonsyndromic congenital, 7 (2)
17.180 5 20 99 17p13.2 NUP88 P Nucleoporin, 88-kD 602552 A
17.181 7 22 09 17p13.1 PHF23 P PHD finger protein 23 612910 REc, A
17.182 3 4 08 17p13.2 RABEP1, RABPT5 P RAB GTPase-binding effector protein 1 603616 Ch fused to PDGFRB in CMML
17.183 1 11 17 17p13.2 RPAIN, RIP P RPA-interacting protein 617299 REc
17.184 11 23 16 17p13.2 SHPK, CARKL P Sedoheptulokinase 605060 REn [Sedoheptulokinase deficiency], 617213 (3)
17.185 10 16 14 17p13.1 SLC2A4, GLUT4 P Solute carrier family 2 (facilitated glucose transporter), member 4 138190 REa, A
17.186 8 29 02 17p13.1 SOX15, SOX20 P SRY (sex-determining region Y)-box 15 601297 A
17.187 12 15 10 17p13 SXGQTL1 P Sex hormone-binding globulin circulating level quantitative trait locus 1 613498 Fd associated with rs1799941 [Sex hormone-binding globulin circulating level QTL 1] (2)
17.188 7 28 15 17p13.2 TAX1BP3, TIP1 P TAX1-binding protein 3 616484 REc
17.189 5 21 07 17p13.1 TRAPPC1, MUM2, BET5 P Trafficking protein particle complex, subunit 1 610969 R
17.190 3 23 02 17p13.2 TRPV1, VR1 P Transient receptor potential cation channel, subfamily V, member 1 (vanilloid receptor 1; capsaicin receptor) 602076 REc 11(Vr1)
17.191 6 3 15 17p13.2 TRPV3, OLMS, FNEPPK2 P Transient receptor potential cation channel, subfamily V, member 3 607066 REc mutation identified in 1 FNEPPK2 family Olmsted syndrome, 614594 (3); ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3) 11(Trpv3)
17.192 5 22 03 17p13.2 USP6, TRE2 C Ubiquitin-specific protease 6 604334 A, REc
17.193 7 1 11 17p13.1 WRAP53, TCAB1, WDR79, DKCB3 P WD repeat-containing protein antisense to TP53 612661 REc Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
17.194 11 11 91 17p13.1 ASGR1 P Asialoglycoprotein receptor-1 108360 H, REa 11(Asgr1)
17.195 4 30 15 17p13.2 CHRNE, SCCMS, CMS4A, CMS4B, CMS4C C Cholinergic receptor, nicotinic, epsilon polypeptide 100725 Psh, REc Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3); Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3); Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3)
17.196 12 17 95 17p13.1 EIF5A P Eukaryotic translation initiation factor-5A 600187 A
17.197 8 20 15 17p13.1 SCO1, SCOD1 P SCO1 cytochrome c oxidase assembly protein 603644 REc, Fd Mitochondrial complex IV deficiency, 220110 (3)
17.198 6 21 91 17p13.1 SHBG, ABP P Sex hormone-binding globulin (androgen binding protein) 182205 A 11(Shbg)
17.199 8 11 14 17p13.1 SLC13A5, NACT, EIEE25 C Solute carrier family 13 (sodium-dependent citrate transporter), member 5 608305 R, REc Epileptic encephalopathy, early infantile, 25, 615905 (3)
17.200 10 4 93 17p12 ZNF18, KOX11 C Zinc finger protein-18 (KOX11) 194524 REa, A
17.201 10 12 90 17p12 ZNF29 P Zinc finger protein-29 (KOX26) 194535 REa, A proximal to TP53 11(Zfp2)
17.202 1 22 01 17p12 AOMS2 P Abdominal obesity-metabolic syndrome QTL2 605572 Fd second QTL on 3q27 Abdominal obesity-metabolic syndrome (2)
17.203 10 11 17 17p12 ARHGAP44, RICH2, KIAA0672 C RHO GTPase-activating protein 44 617716 R, REc
17.204 4 26 01 17p12 DNAH9, DNAH17L, DNEL1 C Dynein, axonemal, heavy chain 9 603330 A
17.205 12 17 07 17p11.2 FBXW10 P F-box and WD40 domain protein 10 611679 REc 11(Fbxw10)
17.206 11 2 98 17p13.1 PER, RIGUI P Period, Drosophila, homolog of 602260 A 11(Per)
17.207 2 2 17 17p12 SHISA6 P Shisa family, member 6 617327 REc
17.208 6 6 00 17p13.1 STX8 P Syntaxin 8 604203 REa, A
17.209 3 31 09 17p12 TEKT3 P Tektin 3 612683 REc
17.210 6 23 15 17p12 TTC19, MC3DN2 P Tetratricopeptide repeat domain 19 613814 REc Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
17.211 1 24 01 17p13.1 VAMP2, SYB2 C Vesicle-associated membrane protein-2 (synaptobrevin-2) 185881 REa, A 11(Syb2)
17.212 3 30 12 17p12 ZSWIM7, SWS1 P Zinc finger SWIM domain-containing protein 7 614535 REc
17.213 3 26 95 17p12 ADORA2B P Adenosine A2b receptor 600446 A, Psh incorrectly put on 10
17.214 7 14 00 17p12 COX10 C Cytochrome c oxidase, subunit X 602125 REc Mitochondrial complex IV deficiency, 220110 (3); Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
17.215 6 6 00 17p12 HS3ST3A1, 30ST3A1 P Heparan sulfate D-glucosaminyl 3-0-sulfotransferase 3A1 604057 REc 11(30st3a1)
17.216 6 6 00 17p12 HS3ST3B1, 30ST3B1 P Heparan sulfate D-glucosaminyl 3-0-sulfotransferase 3B1 604058 REc 11(30st3B)
17.217 12 20 96 17p11.2 LLGL1, DLG4 C Lethal giant larvae, Drosophila, homolog of, 1 600966 REa, A
17.218 5 4 12 17p11.2 PIGL, CHIME P Phosphatidylinositol glycan, class L 605947 R CHIME syndrome, 280000 (3)
17.219 6 25 99 17p11.2 PRPSAP2, PAP41 P Phosphoribosylpyrophosphate synthetase-associated protein 2 603762 A
17.220 1 27 97 17p11.2 TOP3A P Topoisomerase (DNA) III, alpha 601243 REa, A
17.221 11 23 15 17p12-p11.2 YUHAL C Yuan-Harel-Lupski syndrome 616652 Ch contiguous gene duplication syndrome Yuan-Harel-Lupski syndrome (4)
17.222 1 29 08 17p11.2 UBB C Ubiquitin B 191339 A, REc Cleft palate, isolated, 119540 (2)
17.223 4 30 15 17p13.1 CHRNB1, ACHRB, SCCMS, CMS2A, CMS2C C Cholinergic receptor, nicotinic, beta polypeptide-1, muscle 100710 H, REa, A mutation identified in 1 CMS2C family Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3); ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3) 11(Acrb)
17.224 6 7 10 17p12-q11.2 DFNB85 P Deafness, autosomal recessive 85 613392 Fd between rs230884 and rs12603885 Deafness, autosomal recessive 85 (2)
17.225 11 14 12 17p12-q21.2 ECTD6 P Ectodermal dysplasia 6, hair/nail type 614928 Fd between D17S839 and D17S1299 Ectodermal dysplasia 6, hair/nail type (2)
17.226 3 27 95 17p11.2 ALDH3A1, ALDH3 C Aldehyde dehydrogenase 3 family, member A1 100660 S, A 11(Ahd4)
17.227 8 9 05 17p11.2 ALDH3A2, ALDH10, SLS, FALDH C Aldehyde dehydrogenase 3 family, member A2 (fatty aldehyde dehydrogenase) 609523 Fd, LD Sjogren-Larsson syndrome, 270200 (3)
17.228 3 16 10 17p11.2 ALKBH5, ABH5 P AlkB, E. coli, homolog of, 5 613303 REc
17.229 8 16 17 17p11.2 ATPAF2, ATP12, MC5DN1 P ATP synthase, mitochondrial F1 complex, assembly factor 2 608918 REc mutation identified in 1 MC5DN1 patient ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3) 11(Atpaf2)
17.230 9 24 16 17p11.2 B9D1, MKSR1, MKS9, JBTS27 P B9 domain-containing protein 1 614144 REc mutation identified in 1 MKS9 patient ?Meckel syndrome 9, 614209 (3); Joubert syndrome 27, 617120 (3)
17.231 4 23 10 17p11.2 CENPV, P30 P Centromere protein V 608139 R, REc
17.232 1 8 01 17p11.2 COPS3, SGN3 P COP9 signalosome, subunit 3 604665 REa, REc
17.233 12 30 14 17p11.2 DHRS7B, SDR32C1 P Short-chain dehydrogenase reductase family, member 7B 616160 REc
17.234 3 6 01 17p11.2 DRG2 C Developmentally regulated GTP-binding protein 2 602986 A, REa
17.235 3 7 05 17p11.2 FLCN, BHD C Folliculin 607273 Fd, REc Birt-Hogg-Dube syndrome, 135150 (3); Pneumothorax, primary spontaneous, 173600 (3); Renal carcinoma, chromophobe, somatic, 144700 (3); Colorectal cancer, somatic, 114500 (3)
17.236 10 11 17 17p11.2 GID4, VID2, C17orf39 P GID complex, subunit 4 617699 REc
17.237 5 13 97 17p11.2 FLII P Flightless-I, Drosophila, homolog of 600362 A, REa
17.238 2 2 04 17q11.2 GIT1 P G protein-coupled receptor kinase-interacting protein 1 608434 REc, R
17.239 11 21 02 17p11.2 IS2, AIS2 P Scoliosis, idiopathic 2 607354 Fd between D17S947 and D17S798 Scoliosis, idiopathic 2 (2)
17.240 2 21 10 17p11.2 KCNJ18, KIR2.6, TTPP2 P Potassium channel, inwardly rectifying, subfamily J, member 18 613236 REc {Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3)
17.241 6 25 99 17p11.2 MAPK7, PRKM7, ERK5 P Mitogen-activated protein kinase 7 (extracellular signal-regulated kinase 5) 602521 Psh
17.242 3 22 06 17p11.2 MED9, MED25, FLJ10193 P Mediator of RNA polymerase II transcription, subunit 9, S. cerevisiae, homolog of 609878 R, REc
17.243 12 10 13 17p11.2 MEIF2, SMCR7, MID49 P Mitochondrial elongation factor 2 615498 REc
17.244 4 9 96 17p11.2 MFAP4 P Microfibrillar-associated protein-4 600596 D
17.245 10 12 10 17p11.2 MIR33B, MIRN33B P Micro RNA 33B 613486 REc
17.246 8 17 09 17p11.2 MPRIP, MRIP, KIAA0864, RIP3, P116RIP P Myosin phosphatase Rho-interacting protein 612935 R, REc
17.247 6 26 16 17p11.2 MTRNR2L1, HN1 P MTRNR2-like 1 616985 REc
17.248 3 16 04 17p12 MYOCD P Myocardin 606127 REc
17.249 5 28 98 17p11.2 MYO15A, DFNB3 C Myosin XVA 602666 Fd, REc Deafness, autosomal recessive 3, 600316 (3) 11(sh2, Myo15)
17.250 6 21 01 17p11.2 NT5M, DNT2 P Deoxyribonucleotidase, mitochondrial (5' nucleotidase, mitochondrial) 605292 REc, REn
17.251 9 13 12 17p11.2 PEMT, PEMPT P Phosphatidylethanolamine N-methyltransferase 602391 REc
17.252 1 31 17 17p12 PMP22, CMT1A, CMT1E, DSS, CIDP C Peripheral myelin protein-22 601097 Fd, D, A mutation identified in 1 CIDP family Charcot-Marie-Tooth disease, type 1A, 118220 (3); Dejerine-Sottas disease, 145900 (3); Neuropathy, recurrent, with pressure palsies, 162500 (3); Charcot-Marie-Tooth disease, type 1E, 118300 (3); Roussy-Levy syndrome, 180800 (3); ?Neuropathy, inflammatory demyelinating, 139393 (3) 11(Tr)
17.253 12 17 12 17p11.2 PLD6, ZUC P Phospholipase D family, member 6 614960 REc
17.254 8 1 14 17p11.2 PRG4, FLJ36000 P p53-responsive gene 4 605160 REc
17.255 4 17 07 17p11.2 PTLS P Potocki-Lupski syndrome 610883 Ch, REc contiguous gene syndrome Potocki-Lupski syndrome (4)
17.256 3 25 03 17p11.2 RAI1, SMCR, SMS C Retinoic acid-induced gene 1 607642 REc, Ch Smith-Magenis syndrome, 182290 (3)
17.257 2 9 04 17p11.2 RASD1, DEXRAS1 P Ras protein, dexamethasone-induced, 1 605550 REc, R
17.258 9 8 17 17p11.2 RNF112, ZNF179, BFP P RING finger protein 112 601237 A 11(Bfp)
17.259 9 22 93 17p11.2 RNU3 P RNA, U3 small nuclear 180710 D deleted in Smith-Magenis syndrome
17.260 7 8 96 17p12 SERK1, PRKMK4, MAPKK4, JNKK1 P SAPK/ERK kinase-1 601335 Psh, A 11(Serk1)
17.261 7 13 93 17p11.2 SHMT1 C Serine hydroxymethyltransferase (soluble) 182144 A, D ?role in Smith-Magenis syndrome
17.262 7 9 09 17p11.2 SLC47A1, MATE1, FLJ10847 P Solute carrier family 47, member 1 609832 REc 11(Mate1)
17.263 7 9 09 17p11.2 SLC47A2, MATE2, FLJ31196, MATE2K P Solute carrier family 47, member 2 609833 REc 11(Mate2)
17.264 8 17 16 17p11.2 SMCR8 P Smith-Magenis syndrome chromosome region, candidate gene 8 617074 REc
17.265 9 8 11 17p11.2 SPECC1, HCMOGT1, NSP P Sperm antigen with calponin homology and coiled-coil domains 1 608793 A
17.266 1 10 96 17p11.2 SREBF1 P Sterol regulatory element binding transcription factor 1 184756 REa, A
17.267 12 15 10 17p11.2 TNFRSF13B, TACI, CVID2 P Tumor necrosis factor receptor superfamily, member 13B 604907 REc Immunoglobulin A deficiency 2, 609529 (3); Immunodeficiency, common variable, 2, 240500 (3)
17.268 11 19 13 17p11.2 TOM1L2 P TOM1-like 2 615519 REc
17.269 2 25 15 17p12 TRIM16, EBBP P Tripartite motif-containing protein 16 609505 REa, A
17.270 3 14 13 17p11.2 ULK2, KIAA0623, UNC51.2 C UNC51-like kinase 2 608650 REc, R 11(Ulk2)
17.271 6 30 08 17p11.2 USP22, KIAA1064 P Ubiquitin-specific protease 22 612116 R, REc
17.272 3 10 00 17p11.2-p11.2 VWSM P Van der Woude syndrome modifier 604547 Fd
17.273 5 3 04 17p11.2 KCNJ12, KCNJN1 C Potassium inwardly-rectifying channel, subfamily J, member 12 602323 A
17.274 4 2 09 17p11.2 AKAP10 P A-kinase anchor protein 10 604694 R {Cardiac conduction defect, susceptibility to}, 115080 (3)
17.275 1 1 12 17q11.2 IFT20 P Intraflagellar transport 20, chlamydomonas, homolog of 614394 REc
17.276 11 4 98 17q11.2 CPD P Carboxypeptidase D 603102 Psh 11(Cpd)
17.277 10 8 99 17q11.2 SLC13A2, NADC1 C Solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 604148 REa, A, R
17.278 9 30 04 17p11 ADHD2 P Attention deficit-hyperactivity disorder, susceptibility to, 2 608904 Fd {Attention deficit-hyperactivity disorder}, 143465 (2)
17.279 10 15 13 17p12 ELAC2, HPC2, COXPD17 C elaC, E. coli, homolog 2 605367 Fd, R at ~365cR {Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3); Combined oxidative phosphorylation deficiency 17, 615440 (3)
17.280 1 2 91 17p13.1 ASGR2 L Asialoglycoprotein receptor-2 108361 H 11(Asgr2)
17.281 4 12 92 17p13.1 ATP1B2, AMOG P ATPase, Na+K+ transporting, beta-2 polypeptide 182331 H, REa 11(Atp1b2)
17.282 1 26 97 17p CACD1 P Choroidal dystrophy, central areolar 1 215500 Fd Choroidal dystrophy, central areolar 1 (2)
17.283 10 14 98 17p13.1 GAS7 P Growth arrest-specific 7 603127 REc, H 11(gas7)
17.284 11 4 13 17p13.1 RPL26, DBA11 P Ribosomal protein L26 603704 Psh, R mutation identified in 1 family ?Diamond-Blackfan anemia 11, 614900 (3)
17.285 2 20 03 17q11.2 NOS2A, NOS2 C Nitric oxide synthase 2A, inducible, hepatocytes 163730 REa, A, Psh, H ?cluster of 3 NOS2 genes {Hypertension, susceptibility to}, 145500 (2); {Malaria, resistance to}, 611162 (3) 11(Nos2)
17.286 9 15 89 17q11.2 ALDOC C Aldolase C, fructose-bisphosphatase 103870 REb, REa, A
17.287 8 4 99 17q HYT1 P Hypertension, essential, susceptibility to, 1 603918 Fd ~18cM distal to ACE {Hypertension, essential, susceptibility to, 1}, 145500 (2)
17.288 10 20 99 17q25.1 RPL38 P Ribosomal protein L38 604182 REa, R
17.289 5 16 07 17q11 AUTS6 P Autism, susceptibility to, 6 609378 Fd max lod at D17S1800 {Autism susceptibility 6} (2)
17.290 1 11 02 17q11 ERVE1, HERVE1 P Endogenous retroviral sequence E, 1 606601 REc
17.291 8 20 99 17q11.2 GOSR1, GOS28, GS28 P Golgi snap receptor complex member 1 604026 R, A
17.292 3 3 03 17q11.2 PPY2 P Pancreatic polypeptide 2 606638 REa
17.293 3 3 03 17q11.2 PYY2 P Peptide YY, 2 606637 Psh, REa
17.294 8 24 16 17q12 RAD51D, RAD51L3, BROVCA4 P RAD51, S. cerevisiae, homolog of, D 602954 R, H {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3) 11(Rad51d)
17.295 9 1 11 17q11.2 RNF135, MMFD P Ring finger protein 135 611358 REc Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 (3)
17.296 8 20 99 17q12 RPL23 P Ribosomal protein L23 603662 REa, R
17.297 3 26 95 17q12 RPL19 C Ribosomal protein L19 180466 REa, A
17.298 2 18 98 17q11.2 RPL23A P Ribosomal protein L23a 602326 A
17.299 4 30 03 17q11.2 SARM, KIAA0524 C Sterile alpha and heat/armadillo motifs-containing protein 607732 R, REc
17.300 3 25 15 17q12 UNC45B, SMUNC45, CTRCT43 P UNC45, C. elegans, homolog of, B 611220 REc, Fd mutation identified in 1 CTRCT43 family ?Cataract 43, 616279 (3)
17.301 8 7 92 17q11.2 VTN, VNT P Vitronectin (serum spreading factor, somatomedin B, complement S-protein) 193190 A
17.302 8 24 98 17q11.2 FLOT2, M17S1, ECS1, ESA1 C Flotillin 2 (epidermal surface antigen 1) 131560 Fd, REa, A, REn ~180kb centromeric to NF1 11(Esa1)
17.303 2 11 08 17q11.2 FOXN1, WHN P Forkhead box N1 (winged helix nude) 600838 R T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
17.304 12 27 01 17q11.2 MYO1D, KIAA0727 P Myosin ID 606539 R, H 11(Myo1d)
17.305 6 28 02 17q12 STARD3, MLN64 P Start domain-containing protein 3 607048 REa, A
17.306 4 2 01 17q21.2 DANJC7, TTC2, TPR2 P DnaJ, E. coli, homolog of, subfamily C, member 7 (tetratricopeptide repeat domain 2) 601964 REa
17.307 5 8 96 17q23.3 CYB561 P Cytochrome b-561 600019 REa
17.308 8 1 08 17q25.1 ITGB4 C Integrin, beta-4 147557 REa Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3); Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3); Epidermolysis bullosa of hands and feet, 131800 (3)
17.309 2 15 18 17q11.2 NEK8, JCK, NPHP9, RHPD2 P Never in mitosis gene A-related kinase 8 609799 REc mutations identified in 1 family with NPHP9 ?Nephronophthisis 9, 613824 (3); Renal-hepatic-pancreatic dysplasia 2, 615415 (3)
17.310 4 18 07 17q11.2 RAB34, RAH P Ras-associated protein 34 610917 REc
17.311 5 5 09 17q11.2 SLC46A1, HCP1, PCFT P Solute carrier family 46 (folate transporter), member 1 611672 REc Folate malabsorption, hereditary, 229050 (3) 11(Slc46a1)
17.312 3 24 14 17q11.1 WSB1, SWIP1 P WD repeat- and SOCS box-containing protein 1 610091 R, REc
17.313 12 5 01 17q12 TAF15, TAF2N, RBP56 C TAF15 RNA polymerase II, TATA box-binding protein-associated factor, 68kD 601574 REa, A, Psh fusion gene with CSMF Chondrosarcoma, extraskeletal myxoid, 612237 (1)
17.314 5 23 13 17q11.2 CRYBA1, CRYB1, CTRCT10 C Crystallin, beta A1 123610 REa, A, Fd centromeric to NF1 Cataract 10, multiple types, 600881 (3) 11(Cryba1)
17.315 1 26 12 17q11.2 SLC6A4, HTT, OCD1 C Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 182138 REa, A, Fd {Anxiety-related personality traits}, 607834 (3); {Obsessive-compulsive disorder}, 164230 (3) 11(Htt)
17.316 7 17 14 17q11.2 ADAP2, CENTA2 P ArfGAP with dual PH domains 2 608635 REc
17.317 4 6 13 17q11.2 ANKRD13B P Ankyrin repeat domain-containing protein 13B 615124 REc
17.318 1 12 12 17q11.2 ATAD5, C17orf41, FRAG1, FLJ12735 P ATPase family, AAA domain containing 5 609534 A 11(Atad5)
17.319 7 26 16 17q11.2 BLMH, BMH P Bleomycin hydrolase 602403 REc
17.320 2 5 07 17q11.2 CCL3L1, SCYA3L1, LD78 C Chemokine, C-C motif, ligand 3-like 1 601395 REn varies in copy number 1-10 {HIV/AIDS, susceptibility to}, 609423 (3)
17.321 8 29 02 17q12 CCL8, SCYA8 P Chemokine, C-C motif, ligand 8 602283 REc
17.322 8 29 02 17q12 CCL13, SCYA13, NCC1 P Chemokine, C-C motif, ligand 13 601391 REn
17.323 8 29 02 17q12 CCL14, SCYA14, NCC2 P Chemokine, C-C motif, ligand 14 601392 REn
17.324 5 27 97 17q12 CCL15, SCYA15, NCC3, LKN1 C Chemokine, C-C motif, ligand 15 601393 REn
17.325 8 29 02 17q12 CCL16, SCYA16, NCC4 P Chemokine, C-C motif, ligand 16 601394 REn
17.326 8 29 02 17q12 CCL18, SCYA18, PARC, AMAC1, DCCK1 C Chemokine, C-C motif, ligand 18 603757 REc in 47kb, CCL18-CCL3-CCL4
17.327 7 7 16 17q11.2 CDK5R1, p35 P Cyclin-dependent kinase 5, regulatory subunit 1 603460 REc 11(Cdk5r)
17.328 10 11 12 17q11.2 CRLF3, CYTOR4, CRLM9, CREME9 P Cytokine receptor-like factor 3 614853 REc
17.329 1 21 11 17q11.2 DEL17q11.2, C17DELq11.2 P Chromosome 17q11.2 deletion syndrome, 1.4Mb (NF1 microdeletion syndrome) 613675 Ch Chromosome 17q11.2 deletion syndrome, 1.4Mb (4)
17.330 12 30 14 17q11.2 DHRS13, SDR7C5 P Short-chain dehydrogenase reductase family, member 13 616157 REc
17.331 7 11 17 17q11.2 ERAL1, ERAL1A, ERAL1B, PRLTS6 P ERA G-protein-like 1 607435 Psh, H Perrault syndrome 6, 617565 (3) 11(Eral1)
17.332 3 6 92 17q11.2 EVI2A, EVI2, EVDA C Ecotropic viral integration site 2A 158380 Fd, REa, RE within the NF1 gene 11(Evi2)
17.333 3 4 92 17q11.2 EVI2B, EVDB C Ecotropic viral integration site 2B 158381 REn within the NF1 gene
17.334 6 22 14 17q11.2 JJAZ1, KIAA0160 C JJAZ1 gene 606245 Ch, REn
17.335 5 1 03 17q21.2 KRT24, FLJ20261 P Keratin 24 607742 REc
17.336 1 31 07 17q11.2 KSR, KSR1 P Kinase suppressor of RAS 601132 REc
17.337 4 18 05 17q11.2 LGALS9 P Lectin, galactoside-binding, soluble, 9 601879 REc
17.338 9 24 15 17q11.2 LRRC37B P Leucine-rich repeat-containing protein 37B 616558 A, REc
17.339 5 12 09 17q12 LYZL6 P Lysozyme-like 6 612751 REc
17.340 3 23 09 17q11.2 MIR144, MIRN144 P Micro RNA 144 612070 REc
17.341 7 20 12 17q11.2 MIR193A P Micro RNA 193A 614733 REc 11(Mir193a)
17.342 3 23 09 17q11.2 MIR451, MIRN451 P Micro RNA 451 612071 REc
17.343 8 8 13 17q12 MMP28 C Matrix metalloproteinase 28 608417 REc, Psh
17.344 3 11 09 17q11.2 MPVQTL3 P Mean platelet volume quantitative trait locus 3 612575 Fd associated with rs2138852 [Mean platelet volume QTL3] (2)
17.345 3 16 10 17q11.2 MYO18A, SPR210 P Myosin XVIIIA 610067 REc
17.346 8 20 14 17q11.2 NF1, VRNF, WSS, NFNS C Neurofibromin (neurofibromatosis, type I) 613113 Fd, EM, Ch, F Neurofibromatosis, type 1, 162200 (3); Leukemia, juvenile myelomonocytic, 607785 (3); Neurofibromatosis, familial spinal, 162210 (3); Neurofibromatosis-Noonan syndrome, 601321 (3); Watson syndrome, 193520 (3)
17.347 5 18 99 17q21.1 NR1D1, THRAL, EAR1 P Nuclear receptor 1, subfamily D, member 1 (thyroid hormone receptor, alpha-1-like) 602408 REn
17.348 1 12 15 17q11.2 NSRP1, NSRP70, CCDC55 P Nuclear speckle splicing regulatory protein 1 616173 REc 11(Nsrp1)
17.349 6 2 08 17q11.2 NUFIP2, KIAA1321, PIG1 P Nuclear fragile X mental retardation protein-interacting protein 2 609356 R, REc
17.350 8 13 91 17q11.2 OMG, OMGP C Oligodendrocyte-myelin glycoprotein 164345 REa, A within the NF1 gene
17.351 8 3 12 17q11.2 PIGS P Phosphatidylinositol glycan, class S 610271 REc, R
17.352 9 9 08 17q11.2 POLDIP2, PDIP38 P Polymerase delta-interacting protein 2 611519 R, REc
17.353 6 23 99 17p11.2 PRKMK3, MAPKK3, MEK3 P Protein kinase, mitogen-activated, kinase-3 602315 R
17.354 3 18 17 17q11.2 PROCA1 P Proline-rich cyclin A1-interacting protein 617376 REc
17.355 9 25 12 17q11.2 PSMD11, S9 P Proteasome 26S subunit, non-ATPase, 11 604449 REc
17.356 4 23 08 17q11.2 RAB11FIP4, KIAA1821 P RAB11 family-interacting protein 4 611999 REc
17.357 7 22 09 17q12 RDM1 P RAD52 motif-containing protein 1 612896 REc
17.358 4 15 11 17q11.2 RHOT1, MIRO1, ARHT1 P Ras homolog gene family, member T1 613888 REc
17.359 8 6 98 17q11.2 SDF2 P Stromal cell-derived factor-2 602934 A
17.360 5 22 07 17q11.2 SEBOX, OG9 P Skin-, embryo-, brain-, and oocyte-specific homeobox 610975 REc, H 11(Sebox)
17.361 12 1 15 17q11.2 SEZ6, BSRPC P Seizure-related 6, mouse, homolog of 616666 REc
17.362 12 27 13 17q11.2 SPAG5, MAP126, ASTRIN P Sperm-associated antigen 5 615562 REc
17.363 4 3 12 17q11.2 SSH2, KIAA1725 P Slingshot, Drosophila, homolog of, 2 606779 R, REc
17.364 8 27 15 17q21.2 STAT5B P Signal transducer and activator of transcription 5B 604260 A, Ch fused with RARA in PML Leukemia, acute promyelocytic, somatic, 102578 (3); Growth hormone insensitivity with immunodeficiency, 245590 (3)
17.365 7 8 96 17q11.2 SUPT6H P Suppressor of Ty, S.cerevisiae, 6 homolog of 601333 Psh, A 11(Supt6h)
17.366 12 7 09 17q11.2 TAOK1, PSK2, TAO1, MARKK P TAO kinase 1 610266 REc
17.367 6 19 15 17q11.2 TEFM, C17orf42 P Transcription elongation factor, mitochondrial 616422 REc
17.368 1 27 12 17q21.1 THRA, ERBA1, THRA1, CHNG6 C Thyroid hormone receptor, alpha (oncogene ERBA1) 190120 REa, Ch Hypothyroidism, congenital, nongoitrous, 6, 614450 (3) 11(Erba)
17.369 4 19 06 17q11.2 TIAF1, MYO18A, MYSPDZ, MAJN, SPR210, KIAA0216 P TGFB1-induced antiapoptotic factor 1 609517 R, Psh, REc
17.370 7 22 09 17q11.2 TMEM97, MAC30 C Transmembrane protein 97 612912 Psh, REa, Ch
17.371 10 1 17 17q11.2 TRAF4, MLN62, CART1 P TNF receptor-associated factor 4 602464 REc
17.372 3 10 16 17q11.2 TMEM98, NNO4 P Transmembrane protein 98 615949 REc Nanophthalmos 4, 615972 (3)
17.373 2 29 16 17q11.2 TMEM199, VMA12, VPH2, C17orf32, CDG2P P Transmembrane protein 199 616815 REc Congenital disorder of glycosylation, type IIp, 616829 (3)
17.374 11 19 13 17q11.2 UNC119, HRG4, IMD13 C Unc119, C. elegans, homolog of (human retinal gene 4) 604011 REa, A mutation identified in 1 IMD13 family and CORD family ?Cone-rod dystrophy (3); ?Immunodeficiency 13, 615518 (3)
17.375 6 18 99 17q11.2 ZNF207 P Zinc finger protein-207 603428 A, REc mapped by FISH to 6p21.3
17.376 2 16 04 17q12 AATF, CHE1 P Apoptosis-antagonizing transcription factor 608463 A 11(Aatf)
17.377 7 13 98 17q11-q12 ACCN1, BNC1, MDEG P Amiloride-sensitive cation channel 1, neuronal (degenerin) 601784 A
17.378 9 18 00 17q12 AP2B1, CLAPB1, ADTB2 P Adaptor-related protein complex 2, beta 1 subunit 601025 REa
17.379 10 11 06 17q12 CCL2, SCYA2, MCP1, MCAF C Small inducible cytokine A2 (monocyte chemotactic protein, homologous to mouse Sig-je) 158105 REa, A {HIV-1, resistance to}, 609423 (3); {Spina bifida, susceptibility to}, 182940 (3); {Coronary artery disease, modifier of} (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
17.380 10 7 02 17q12 CCL5, SCYA5, D17S136E, TCP228 P Chemokine, C-C motif, ligand 5 187011 REa, A {HIV-1 disease, delayed progression of} (3); {HIV-1 disease, rapid progression of} (3)
17.381 8 29 02 17q12 CCL7, SCYA7, MCP3 P Chemokine, C-C motif, ligand 5 158106 A close to ERBB2
17.382 7 8 89 17q21.1 CSF3, GCSF C Colony-stimulating factor-3 (granulocyte) 138970 A, REa, REb, RE 11(Csfq)
17.383 10 15 97 17q12 LIG3 C Ligase III, DNA, ATP-dependent 600940 Psh, A
17.384 10 15 94 17q11.2-q24 MHS2 P Malignant hyperthermia susceptibility 2 154275 Fd ?due to mutation in SCN4A {Malignant hyperthermia susceptibility 2} (2)
17.385 11 30 06 17q12 ARHGAP23, KIAA1501 C RHO GTPase-activating protein 23 610590 R, REc 11(Arhgap23)
17.386 7 18 06 17q12 CCL3, SCYA3, MIP1A C Chemokine, C-C motif, ligand 3 182283 REa, REn in 47kb, CCL18-CCL3-CCL4 {HIV infection, resistance to}, 609423 (2) 11(Mip1a)
17.387 2 2 04 17q12 CCL4, SCYA4, ACT2, MIP1B, AT744.1 C Chemokine, C-C motif, ligand 4 182284 REa, A, REn (Mip1b)
17.388 3 8 07 17q12 CCL4L, SCYA4L, LAG1 C Chemokine, C-C motif, ligand 4-like 603782 Psh, REn
17.389 3 8 07 17q12 CCL4L2 P Chemokine, CC motif, ligand 4-like 2 610757 REc
17.390 4 29 14 17q12 CCL23, SCYA23 P Chemokine, C-C motif, ligand 23 602494 REn, REc
17.391 1 30 07 17q12 CCT6B, CCTZ2 P Chaperonin containing T-complex polypeptide 1, subunit 6B 610730 R, REc
17.392 4 8 08 17q12 CISD3, MINER2 P CDGSH iron sulfur domain protein 3 611933 R, REc
17.393 3 30 12 17q12 DEL17q12, C17DELq12 P Chromosome 17q12 deletion syndrome 614527 Ch Chromosome 17q12 deletion syndrome (4)
17.394 12 30 14 17q12 DHRS11, SDR24C1 P Short-chain dehydrogenase reductase family, member 11 616159 REc
17.395 3 30 12 17q12 DUP17q12, C17DUPq12 P Chromosome 17q12 duplication syndrome 614526 Ch Chromosome 17q12 duplication syndrome (4)
17.396 12 6 17 17q12 EPOP, C17orf96 P Elongin BC- and polycomb repressive complex 2-associated protein 617795 REc
17.397 8 1 05 17q12 FBXO47 P F-box only protein 47 609498 REc
17.398 4 2 16 17q12 GAS2L2, GAR17 P Growth arrest-specific 2-like 2 611398 REc
17.399 1 31 13 17q12 GPR179, GPR158L, GPR158L1, CSNB1E P G protein-coupled receptor 179 614515 REc Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3) 11(Gpr179)
17.400 4 23 08 17q12 HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11 C HNF1 homeobox B (transcription factor 2) 189907 REa Renal cysts and diabetes syndrome, 137920 (3); Diabetes mellitus, noninsulin-dependent, 125853 (3); {Renal cell carcinoma}, 144700 (3) 11(Hnf2)
17.401 1 21 09 17q12 HPC11 P Prostate cancer, hereditary, 11 611955 Fd associated with rs4430796 and rs7501939 {Prostate cancer, hereditary, 11} (2)
17.402 2 25 98 17q21.2 KRT12 C Keratin 12 601687 R, Fd, A Meesmann corneal dystrophy, 122100 (3)
17.403 12 2 10 17q12 LHX1, LIM1 P LIM/homeodomain protein LHX1 601999 REc, A previously mapped to 11p13-p12 by FISH 11(Lhx1)
17.404 6 27 17 17q12 LINC00672 P Long intergenic noncoding RNA 672 617544 REc
17.405 2 1 11 17q12 MED1, PPARBP, PBP, TRAP220 C Mediator complex subunit 1 (peroxisome proliferator-activated receptor-binding protein) 604311 A
17.406 12 15 17 17q12 MIEN1, C17orf37, RDX12 P Migration and invasion enhancer 1 611802 REc
17.407 3 18 17 17q12 MYO19, MYOHD1 P Myosin XIX 617379 REc
17.408 4 7 97 17q12 NEUROD2 P Neurogenic differentiation 2 601725 A 11(Neurod2)
17.409 9 12 11 17q12 PBC5 P Biliary cirrhosis, primary, 5 614221 Fd associated with rs9303277 Biliary cirrhosis, primary, 5 (2)
17.410 4 10 14 17q12 PGAP3, PERLD1, CAB2, MGC9753, HPMRS4 P Post-GPI attachment to proteins 3 611801 REc Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
17.411 10 25 12 17q12 PEX12, PBD3A P Peroxisome biogenesis factor 12 601758 H, REc Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3); Peroxisome biogenesis disorder 3B, 266510 (3) 11(Pex12)
17.412 3 19 18 17q12 PIGW, HPMRS5 P Phosphatidylinositol glycan, class W 610275 REc Glycosylphosphatidylinositol biosynthesis defect 11, 616025 (3)
17.413 2 25 15 17q12 PIP4K2B, PIP5P4KB, PIP5K2B P Phosphatidylinositol 5-phosphate 4-kinase, type II, beta 603261 R, REc
17.414 10 24 14 17q12 PNMT, PENT C Phenylethanolamine N-methyltransferase 171190 REa, Fd, REc
17.415 2 24 98 17q12 PSMB3 P Proteasome subunit, beta type, 3 602176 A, REc previously assigned to 2q35
17.416 8 18 08 17q12 RASL10B, RRP17 P Ras-like, family 10, member B 612128 REc
17.417 11 28 05 17q12 RFFL P Ring finger and FYVE-like domain containing 1 (rififylin) 609735 R, REc 11(Rffl)
17.418 10 13 04 17q12 RNF110, ZNF144, MEL18 P Ring finger protein 110 (zinc finger protein-144) 600346 A, H, REc previously assigned to 12q22 10(Mel18)
17.419 12 17 12 17q12 SLFN5 P Schlafen family, member 5 614952 REc
17.420 11 30 12 17q12 SLFN11 P Schlafen family, member 11 614953 REc
17.421 12 17 12 17q12 SLFN12 P Schlafen family, member 12 614955 REc
17.422 12 17 12 17q12 SLFN12L P Schlafen family, member 12-like 614956 REc
17.423 12 17 12 17q12 SLFN13 P Schlafen family, member 13 614957 REc
17.424 4 21 16 17q12 SLFN14, BDPLT20 P Schlafen family, member 14 614958 REc Bleeding disorder, platelet-type, 20, 616913 (3)
17.425 2 24 17 17q12 SRCIN1, SNIP, KIAA1684 P Src kinase signaling inhibitor 1 610786 REc
17.426 5 12 09 17q11.2 SPACA3, LYZL3, SLLP1, LYC3, ALLP17 C Sperm acrosome-associated 3 612749 REc
17.427 5 12 03 17q12 TBC1D3, PRC17, TBC1D3A P TBC1D3 gene 607741 REc
17.428 10 27 08 17q12 TBC1D3B, PRC17 C TBC1 domain family, member 3B 610144 REc
17.429 3 12 07 17q12 TBC1D3C P TBC1 domain family, member 3C 610806 REc
17.430 4 21 15 17q12 TCAP, LGMD2G, CMH25 C Telethonin 604488 Fd, REc Muscular dystrophy, limb-girdle, type 2G, 601954 (3); Cardiomyopathy, hypertrophic, 25, 607487 (3)
17.431 1 12 17 17q12 TMEM132E P Transmembrane protein 132E 616178 REc
17.432 6 12 17 17q12 ZNHIT3, TRIP3, PEHO P Zinc finger HIT domain-containing protein 3 604500 REc PEHO syndrome, 260565 (3)
17.433 10 5 10 17q21.31 ARL4D, ARF4L P ADP-ribosylation factor-like 4D 600732 REc, Psh
17.434 2 21 14 17q21.2 COASY, NBIA6 P Coenzyme A synthase 609855 REc Neurodegeneration with brain iron accumulation 6, 615643 (3)
17.435 3 4 94 17q21.2 IGFBP4 P Insulin-like growth factor-binding protein-4 146733 A
17.436 9 27 13 17q21.2 KRT9, EPPK C Keratin 9 607606 Fd, REa Palmoplantar keratoderma, epidermolytic, 144200 (3)
17.437 10 7 13 17q21.2 KRT14 C Keratin 14 148066 REa Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3); Epidermolysis bullosa simplex, Koebner type, 131900 (3); Epidermolysis bullosa simplex, recessive 1, 601001 (3); Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3); Dermatopathia pigmentosa reticularis, 125595 (3); Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
17.438 4 10 14 17q21.2 KRT16, FNEPPK, PC1 C Keratin 16 148067 REa, Fd probably 17q21-q22 Pachyonychia congenita 1, 167200 (3); Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
17.439 4 10 14 17q21.2 KRT17, PC2, PCHC1 C Keratin 17 148069 REn, Fd ~5' to KRT16; probably 17q21-q22 Pachyonychia congenita 2, 167210 (3); Steatocystoma multiplex, 184500 (3)
17.440 3 22 07 17q21.2 KRT20, CD20, KRT21 P Keratin 20 608218 REn
17.441 9 12 08 17q21.2 KRTAP1-1, KAP1.1, KAP1.7, KAP1.6 P Keratin-associated protein 1-1 608819 REc
17.442 9 12 08 17q21.2 KRTAP1-3, KAP1.3, KAP1.2, KAP1.9 P Keratin-associated protein 1-3 608820 REc
17.443 9 12 08 17q21.2 KRTAP1-4, KAP1.4 P Keratin-associated protein 1-4 608821 REc
17.444 9 12 08 17q21.2 KRTAP-15, KAP1.5 P Keratin-associated protein 1-5 608822 REc
17.445 2 18 08 17q21.2 TNS4, CTEN P Tensin 4 608385 REc
17.446 3 12 07 17q12 TBC1D3D P TBC1 domain family, member 3D 610807 REc
17.447 3 12 07 17q12 TBC1D3E P TBC1 domain family, member 3E 610808 REc
17.448 3 12 07 17q12 TBC1D3F P TBC1 domain family, member 3F 610809 REc
17.449 3 12 07 17q12 TBC1D3G P TBC1 domain family, member 3G 610810 REc
17.450 3 12 07 17q12 TBC1D3H P TBC1 domain family, member 3H 610811 REc
17.451 3 7 08 17q21.2 KRT31, KRTHA1, HA1 P Keratin 31 601077 REc
17.452 3 8 08 17q21.2 KRT32, KRTHA2, HA2 P Keratin 32 602760 A
17.453 3 8 08 17q21.2 KRT33A, KRTHA3A, HA3I P Keratin 33A 602761 REc
17.454 3 8 08 17q21.2 KRT33B, KRTHA3A, HA3II P Keratin 33B 602762 REc
17.455 3 7 08 17q21.2 KRT34, KRTHA4, HA4 P Keratin 34 602763 REc
17.456 3 7 08 17q21.2 KRT35, KRTHA5 P Keratin 35 602764 REn
17.457 3 7 08 17q21.2 KRT36, KRTHA6, HA6 P Keratin 36 604540 REc
17.458 3 7 08 17q21.2 KRT37, KRTHA7, HA7 P Keratin 37 604541 REc
17.459 3 7 08 17q21.2 KRT38, KRTHA8, HA8 P Keratin 38 604542 REc
17.460 5 27 97 17q21.31 MPP2, DLG2 P Membrane protein, palmitoylated-2 (MAGUK p55 subfamily member 2) 600723 RE
17.461 5 27 97 17q21.31 MPP3, DLG3 P Membrane protein, palmitoylated-3 (MAGUK p55 subfamily member 3) 601114 REc, A
17.462 3 3 94 17q21.31 PPY C Pancreatic polypeptide 167780 REa, Fd, H, REn in rat, close to GH ?11(Ppy)
17.463 1 31 01 17q21.31 PSME3, PA28G P Proteasome activator subunit 3 605129 REc, A 14(Psme3)
17.464 4 29 14 17q21.31 SOST, VBCH, CDD, SOST1 C Sclerostin 605740 Fd, REc Sclerosteosis 1, 269500 (3); Van Buchem disease, 239100 (3); Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3)
17.465 4 26 10 17q12 TADA2L, TADA2A, ADA2A P Transcriptional adaptor 2A 602276 A
17.466 9 2 96 17q12-q21 WT4 C Wilms tumor-4 601363 Fd Wilms tumor, type 4 (2)
17.467 7 27 07 17q21.1 ZPBP2, ZPBPL P Zona pellucida-binding protein 2 608499 REc
17.468 9 24 08 17q12 GGNBP2, DIF3, LCRG1, LZK1 P Gametogenetin-binding protein 2 612275 REc
17.469 2 14 01 17q21.2 RAMP2 C Receptor activity-modifying protein 2 605154 R 11(Ramp2)
17.470 9 9 08 17q21.2 CCR7, CMKBR7, EBI1 P Chemokine (C-C) receptor 7 (Epstein-Barr virus induced gene 1) 600242 REa, A
17.471 2 16 04 17q21.1 MLN51, CASC3 P MLN51 gene 606504 A
17.472 7 12 13 17q21.33 SGCA, ADL, DAG2, LGMD2D, DMDA2 C Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin) 600119 Psh, A Muscular dystrophy, limb-girdle, type 2D, 608099 (3)
17.473 10 15 95 17q21.31 CRHR1, CRHR P Corticotropin releasing hormone receptor 1 122561 Psh
17.474 4 11 94 17q21.32 CDC27 P Cell division cycle 27 116946 Psh, H between ERBB2 and PRKCA 11(Cdc27)
17.475 5 23 11 17q12 ACACA, ACAC, ACC1, ACACAD C Acetyl-Coenzyme A carboxylase, alpha 200350 A proximal to q21.33; others put at 17q12 Acetyl-CoA carboxylase deficiency, 613933 (1)
17.476 3 16 99 17q21.31 AOC2, RAO P Amine oxidase, copper-containing, 2 602268 A
17.477 6 25 99 17q21.31 AOC3, HPAO, VAP1 P Amine oxidase, copper-containing 3 603735 TM
17.478 11 20 06 17q21.31 ARHGAP27, CAMGAP1 P RHO GTPase-activating protein 27 610591 REc
17.479 2 29 08 17q21 ASRT6 P Asthma-related traits, susceptibility to, 6 611403 Fd strongly associated with rs7216389 {Asthma-related traits, susceptibility to, 6} (2)
17.480 1 8 08 17q21.2 ATP6V0A1, ATP6N1A, VPP1 C ATPase, H+ transporting, lysosomal, V0 subunit A1 192130 REa, REn 11(Atp6n1)
17.481 4 30 09 17q21 AUTS7 P Autism, susceptibility to, 7 610676 Fd max lod at D17S2180 {Autism susceptibility 7} (2)
17.482 1 4 00 17q21.31 BECN1 P Beclin 1 604378 REc, A
17.483 3 9 18 17q21.31 BRCA1, PSCP, BROVCA1, PNCA4, FANCS C Breast cancer-1 gene 113705 Fd, REc {Breast-ovarian cancer, familial, 1}, 604370 (3); {Pancreatic cancer, susceptibility to, 4}, 614320 (3); Fanconi anemia, complementation group S, 617883 (3) 11(Brca1)
17.484 11 20 13 17q12 CDK12, CRKRS, CRK7, KIAA0904 C Cyclin-dependent kinase 12 615514 REc, R 11(Cdk12)
17.485 12 7 07 17q21.31 C1QL1, CRF, C1QRF P Complement component 1, q subcomponent-like 1 611586 A
17.486 9 22 17 17q21.2 CAVIN1, PTRF P Caveolae-associated protein 1 603198 REc, H Lipodystrophy, congenital generalized, type 4, 613327 (3) 11(Ptrf)
17.487 7 13 93 17q21.2 CNP, CNP1 C 2', 3' cyclic nucleotide 3' phosphohydrolase 123830 REa, A, Psh, Fd, REb flanked by THRA1 and NGFR 11(Cnp)
17.488 3 27 15 17q21.2 CNTNAP1, CASPR, P190 P Contactin-associated protein 1 602346 REc Lethal congenital contracture syndrome 7, 616286 (3)
17.489 9 14 95 17q21.31 ETV4 P ETS variant gene-4 (E1A enhancer-binding protein, E1AF) 600711 REa, REc, A
17.490 12 17 07 17q21.31 DBF4B, DRF1, ASKL1 P DBF4, S. cerevisiae, homolog of, B 611661 REc
17.491 1 14 97 17q21.31 DUSP3, VHR C Dual specificity phosphatase-3 (vaccinia virus phosphatase VH1-related) 600183 REn, RE
17.492 2 24 97 17p13.1 FGF11, FHF3 P Fibroblast growth factor-11 601514 REa, REl 11(Fhf3)
17.493 12 22 00 17q21.31 FMNL, C17orf1B P Formin-like 604656 A, R
17.494 3 27 95 17q21.31 G6PC, G6PT C Glucose-6-phosphatase, catalytic 613742 REa, REn Glycogen storage disease Ia, 232200 (3)
17.495 6 7 11 17q21.31 G6PC3, UGRP, SCN4 P Glucose-6-phosphatase, catalytic, 3 611045 REc Neutropenia, severe congenital 4, autosomal recessive, 612541 (3); Dursun syndrome, 612541 (3)
17.496 3 3 94 17q21.2 GAS, GAST C Gastrin 137250 REa 11(Gast)
17.497 1 8 01 17q21.31 GFAP, ALXDRD C Glial fibrillary acidic protein 137780 REa, A Alexander disease, 203450 (3) 11(Gfap)
17.498 1 13 11 17q21.32 GNGT2 P Guanine nucleotide-binding protein, gamma-transducing activity polypeptide 2 139391 A
17.499 7 1 11 17q21.32 GOSR2, GS27, EPM6 P Golgi snap receptor complex member 2 604027 R, A Epilepsy, progressive myoclonic 6, 614018 (3)
17.500 10 13 09 17q21.1 GSDMA, GSDM1, GSDM C Gasdermin A 611218 REc, H 11(Gsdma1-3)
17.501 10 1 09 17q21.1 GSDMB, GSDML P Gasdermin B 611221 REc
17.502 7 27 15 17q21.2 HCRT, OX, NRCLP1 P Hypocretin 602358 R mutation identified in 1 NRCLP1 patient ?Narcolepsy 1, 161400 (3)
17.503 7 25 14 17q21.31 HDAC5 C Histone deacetylase 5 605315 R, A
17.504 1 8 97 17q21.31 IFI35 C Interferon-induced protein-35 600735 REc
17.505 8 10 07 17q12-q21 IKZF3, ZNFN1A3, AIOLOS P Ikaros family zinc finger 3 606221 A
17.506 11 13 07 17q21.2 JUP, DP3, PDGB, ARVD12 C Junction plakoglobin 173325 REa, Fd incorrectly mapped to 7; close to BRCA1 Naxos disease, 601214 (3); Arrhythmogenic right ventricular dysplasia 12, 611528 (3) 11(Jup, Pkgb)
17.507 5 12 09 17q21.2 KAT2A, GCN5L2, GCN5 C K(lysine) acetyltransferase 2A 602301 A 11(Gcn5l2)
17.508 1 24 01 17q21.32 KPNB1 P Karyopherin beta-1 602738 A 11(Kpnb1)
17.509 3 21 03 17q12 LASP1, MLN50 C LIM and SH3 protein 1 602920 Ch, H fused to MLL in AML 11(Lasp1)
17.510 9 14 00 17q21.31 MAP3K14, NIK, HSNIK P Mitogen-activated protein kinase kinase kinase-14 604655 A, R
17.511 2 22 13 17q21.31 MEOX1, MOX1, KFS2 C Mesenchyme homeo box 1 (Mox1, mouse, homolog of) 600147 RE Klippel-Feil syndrome 2, 214300 (3)
17.512 4 6 15 17q21.32 MIR10A P Micro RNA 10A 610173 REc
17.513 3 2 98 17q12 MLLT6, AF17 P Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6 600328 Ch
17.514 1 20 06 17q21.33 MYCBPAP, AMAP1 P MYCBP-associated protein 609835 REc
17.515 7 29 15 17q21.2 NAGLU, MPS3B, CMT2V C N-acetylglucosaminidase, alpha- 609701 REn mutation identified in 1 CMT2V family Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3); ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)
17.516 3 26 02 17q21.32 NPEPPS, PSA, MP100 P Aminopeptidase, puromycin-sensitive 606793 A 11(Psa)
17.517 3 29 10 17q21.33 PHB C Prohibitin 176705 REa, A {Breast cancer, susceptibility to}, 114480 (3)
17.518 5 5 15 17q21.31 PYY P Peptide YY 600781 A 10kb from PPY
17.519 8 3 12 17q21.31 RND2, ARHN, RHO7 P Ras homolog gene family, member N (GTP-binding protein Rho7) 601555 REn
17.520 6 30 16 17q21.2 STAT3, APRF, HIES, ADMIO1 P Signal transducer and activator of transcription-3 (acute-phase response factor) 102582 A Hyper-IgE recurrent infection syndrome, 147060 (3); Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3) 11(Stat3)
17.521 1 8 01 17q21.33 TOB1, TOB P Transducer of ERBB2, 1 605523 REc
17.522 9 23 13 17q21.2 TUBG1, CDCBM4 P Tubulin, gamma 1 191135 R Cortical dysplasia, complex, with other brain malformations 4, 615412 (3)
17.523 4 4 01 17q21.2 TUBG2 P Tubulin, gamma 2 605785 R pseudogene on chr. 7
17.524 3 9 00 17q21.31 VAT1 P Vesicle amine transport protein 1 604631 REn
17.525 2 17 15 17q21.31-q21.32 WNT3, INT4, TETAMS C Wingless-type MMTV integration site family, member 3 165330 REa, S, A, H mutation identified in 1 TETAMS family ?Tetra-amelia syndrome, 273395 (3) 11(Wnt4)
17.526 8 10 98 17q21.32 WNT15 C Wingless-type MMTV integration site family, member 15 602864 REa, H, R 11(Wnt15)
17.527 4 29 97 17q12 CACNB1, CACNLB1, CCHLB1 P Calcium channel, voltage-dependent, beta 1 subunit 114207 REa
17.528 11 28 01 17q12 GRB7 P Growth factor receptor-bound protein 7 601522 REc 11(Grb7)
17.529 7 26 12 17q21.32 HOXB1, HOX2I, HCFP3 C Homeo box-B1 142968 RE Facial paresis, hereditary congenital, 3, 614744 (3) 11(Hox2.9)
17.530 1 20 95 17q21.32 HOXB2, HOX2H C Homeo box-B2 142967 RE 11(Hox2.8)
17.531 1 20 95 17q21.32 HOXB3, HOX2G C Homeo box-B3 142966 RE 11(Hox2.7)
17.532 1 20 95 17q21.32 HOXB4, HOX2F C Homeo box-B4 142965 RE 11(Hox2.6)
17.533 1 20 95 17q21.32 HOXB5, HOX2A C Homeo box-B5 142960 REa, A, H, Fd, RE 11(Hox2.2)
17.534 1 20 95 17q21.32 HOXB6, HOX2B C Homeo box-B6 142961 RE 11(Hox2.2)
17.535 1 20 95 17q21.32 HOXB7, HOX2C C Homeo box-B7 142962 RE 11(Hox2.3)
17.536 1 20 95 17q21.32 HOXB8, HOX2D C Homeo box-B8 142963 RE 11(Hox2.4)
17.537 1 20 95 17q21.32 HOXB9, HOX2E C Homeo box-B9 142964 RE 11(Hox2.5)
17.538 8 20 07 17q21-q22 HPC9 P Prostate cancer, hereditary, 9 610997 Fd max LOD at D17S1820 {Prostate cancer, hereditary, 9} (2)
17.539 12 21 10 17q21.2 KRT10, EHK, BCIE, BIE C Keratin 10 148080 REa, A, REn in cluster of class I keratins Epidermolytic hyperkeratosis, 113800 (3); Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3); Ichthyosis with confetti, 609165 (3)
17.540 10 4 91 17q21.2 KRT15 C Keratin 15 148030 H, REa, A, REn tightly linked to Hox-2 in mouse 11(Krt1)
17.541 6 9 98 17q21.2 KRT19 P Keratin 19 148020 REa probably 17q21-q22
17.542 3 23 09 17q21.32 MIR196A1, MIRN196A1 P Micro RNA 196A1 608632 REc
17.543 2 19 04 17q21-q22 MYP5 P Myopia 5 608474 Fd between D17S787 and D17S1811 Myopia 5 (2)
17.544 6 6 89 17q21.33 NGFR, TNFRSF16 C Nerve growth factor receptor 162010 REa, A, S, Fd, C distal to APL breakpoint, q21; < 0.5mb from HOX2 11(Ngfr)
17.545 8 15 97 17q21.31 NSF P N-ethylmaleimide-sensitive factor 601633 Psh, A 11(Nsf)
17.546 8 18 08 17q21.31 RNU2-1, RNU2 C RNA, U2 small nuclear, 1 180690 REa, A, C
17.547 7 17 01 17q22 PCTP P Phosphatidylcholine transfer protein 606055 R 11(Pctp)
17.548 3 10 00 17q21-q22 PTLAH, FPAH P Patella aplasia or hypoplasia 168860 Fd Patella aplasia or hypoplasia (2)
17.549 10 15 95 17q21.31 SHCL1 P SHC (Src homology 2 domain-containing) transforming protein-like 1 600739 A
17.550 12 9 15 17q21.31 SLC4A1, AE1, EPB3, SPH4, SAO, CHC C Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) 109270 REa, RE, Fd, A Ovalocytosis, SA type, 166900 (3); Spherocytosis, type 4, 612653 (3); [Malaria, resistance to], 611162 (3); Renal tubular acidosis, distal, AD, 179800 (3); Renal tubular acidosis, distal, AR, 611590 (3); [Blood group, Diego], 110500 (3); [Blood group, Waldner], 112010 (3); [Blood group, Wright], 112050 (3); [Blood group, Froese], 601551 (3); [Blood group, Swann], 601550 (3); Cryohydrocytosis, 185020 (3)
17.551 2 2 16 17q23.2 TBX4, ICPPS P T-box 4 601719 REc Ischiocoxopodopatellar syndrome, 147891 (3)
17.552 5 26 05 17q21.2 TOP2A, TOP2 C Topoisomerase (DNA) II, alpha, 170kD 126430 REa, A DNA topoisomerase II, resistance to inhibition of, by amsacrine (3) 11(Top2a)
17.553 2 27 12 17q21.2 WNK4, PRKWNK4, PHA2B C WNK lysine deficient protein kinase 4 601844 Fd, REc Pseudohypoaldosteronism, type IIB, 614491 (3)
17.554 6 28 94 17q21.2 ACLY C ATP citrate lyase 108728 H, REa, R ?11(Atpcl)
17.555 12 22 08 17q12 DDX52, ROK1, HUSSY19 P DEAD box polypeptide 52 612500 R
17.556 5 27 05 17q12 ERBB2, NGL, NEU, HER2 C Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog) 164870 REa, A, R, Fd Adenocarcinoma of lung, somatic, 211980 (3); Glioblastoma, somatic, 137800 (3); Gastric cancer, somatic, 613659 (3); Ovarian cancer, somatic, (3)
17.557 7 1 97 17q21.31 FZD2 P Frizzled, Drosophila, homolog of, 2 600667 A 11(Fzd2)
17.558 12 28 07 17q21.2 GJD3, GJC1, CX31.9 P Gap junction protein, delta-3 (31.9kD) 607425 REc
17.559 8 8 14 17q21.31 MAPT, MTBT1, DDPAC, MSTD C Microtubule-associated protein tau 157140 REb, A, R, Fd see 6p21 Dementia, frontotemporal, with or without parkinsonism, 600274 (3); Pick disease, 172700 (3); Supranuclear palsy, progressive, 601104 (3); Supranuclear palsy, progressive atypical, 260540 (3); {Parkinson disease, susceptibility to}, 168600 (3) 11(Mapt)
17.560 2 1 11 17q21.1 MED24, TRAP100, KIAA0130 P Mediator complex subunit 24 607000 R, REc
17.561 3 17 08 17q21.2 MLX, TCFL4 P MAX-like protein X 602976 REc
17.562 2 25 14 17q21.1 MSL1 P Male-specific lethal 1, Drosophila, homolog of 614801 REc
17.563 8 23 94 17q21.31 NBR1, M17S2 C Neighbor of BRCA1 gene 1 (membrane component, chromosome 17, surface marker 2) 166945 A, REn
17.564 11 11 14 17q21.2 NKIRAS2, KBRAS2 P NFKB inhibitor-interacting Ras-like protein 2 604497 REc
17.565 11 5 08 17q21.1 ORMDL3 P ORM1-like protein 3 610075 REc
17.566 11 30 06 17q12 PLXDC1, TEM7 P Plexin domain containing 1 606826 R
17.567 9 21 17 17q21.1 PSMD3, RPN3 P Proteasome 26S subunit, non-ATPase, 3 617676 REc
17.568 10 30 08 17q21.2 RARA C Retinoic acid receptor, alpha polypeptide 180240 A, Ch fused with MYL in APL Leukemia, acute promyelocytic, 612376 (1) 11(Rara)
17.569 7 17 02 17q21.31 STH P Saitohin 607067 REn in intron 9 of TAU
17.570 8 20 07 17q12 CCL11, SCYA11 C Chemokine, C-C motif, ligand 11 601156 REa, A {HIV1, resistance to}, 609423 (3); {Asthma, susceptibility to}, 600807 (3)
17.571 3 28 17 17q21.31 RPL27, DBA16 P Ribosomal protein L27 607526 REa, R mutation identified in 1 DBA16 patient ?Diamond-Blackfan anemia 16, 617408 (3)
17.572 5 8 97 17q21.2 EZH1 P Enhancer of zeste, Drosophila, homolog of, 1 601674 REn 11(Ezh1)
17.573 8 10 06 17q21.32 B4GALGT2, GALGT2, SD P Beta-1,4-N-acetyl-galactosaminyl transferase 2 111730 REc 11(B4galnt2)
17.574 7 28 15 17q21.2 CCR10, GPR2 P Chemokine (C-C) receptor 10 600240 A, REc 11(Gpr2)
17.575 8 10 16 17q21.2 CDC6, CDC18L, MGORS5 P Cell division cycle 6, S. cerevisiae, homolog of 602627 REc mutation identified in 1 MGORS5 patient ?Meier-Gorlin syndrome 5, 613805 (3)
17.576 4 30 09 17q21.2 DHX58, LGP2, D11LGP2 P DEAH (Asp-Glu-Ala-His) box polypeptide 58 608588 REc 11(Lgp2)
17.577 8 12 15 17q21.2 FAM134C P Family with sequence similarity 134, member C 616498 REc
17.578 6 13 12 17q12 FBXL20, FBL20, FBL2, SCR p F-box and leucine-rich repeat protein 20 609086 REc 11(Fbxl20)
17.579 2 13 15 17q21.2 FKBP10, FKBP65, OI11, BRKS1 P FK506-binding protein 10 607063 R, REc, Fd, LD Osteogenesis imperfecta, type XI, 610968 (3); Bruck syndrome 1, 259450 (3)
17.580 3 9 00 17q21.32 HOXB13 P Homeo box B13 604607 A 11(Hoxb13)
17.581 5 8 13 17q21.2 HSD17B1, EDH17B2 C Estradiol 17-beta-dehydrogenase-1 109684 A, REa
17.582 9 11 14 17q21.2 HSPB9 P Heat-shock 27kD protein 9 608344 REc
17.583 1 14 09 17q21.2 IBD22 P Inflammatory bowel disease 22 612380 Fd associated with rs744166 {Inflammatory bowel disease 22} (2)
17.584 3 1 13 17q21.2 KLHL10, SPGF11 P Kelch-like 10 608778 REc, H Spermatogenic failure 11, 615081 (3) 11(Klhl10)
17.585 5 22 14 17q21.2 KRT13, WSN2 P Keratin 13 148065 Psh, A, REn in same PFGE fragment as KRT10, KRT15 White sponge nevus 2, 615785 (3)
17.586 11 13 13 17q21.2 KRT23 P Keratin 23 606194 REc
17.587 1 15 16 17q21.2 KRT25, K25, KRT24IRS1, ARWH3 P Keratin 25, type I 616646 REc, H Woolly hair, autosomal recessive 3, 616760 (3) 11(Krt25)
17.588 12 4 15 17q21.2 KRT26, K25, K25B, K25IRS2 P Keratin 26, type I 616675 REc, H 11(Krt26)
17.589 12 9 15 17q21.2 KRT28, K25D, K25IRS4 P Keratin 28, type I 616677 REc
17.590 12 4 15 17q21.2 KRT27, KRT25C, K25IRS3 P Keratin 27, type I 616676 REc 11(Krt27)
17.591 12 9 15 17q21.2 KRT39 P Keratin 38, type I 616678 REc, H 11(Krt39)
17.592 12 9 15 17q21.2 KRT40, KA36 P Keratin 40, type I 616679 REc, H 11(Krt40)
17.593 5 7 03 17q21.32 OSBPL7, ORP7 C Oxysterol-binding protein-like protein 7 606735 REc
17.594 4 20 17 17q21.2 P3H4, SC65, LEPREL4 P Proyly 3-hydroxylase 4 617419 REc
17.595 11 3 11 17q21.2 PSMC3IP, TBPIP, GT198, HOP2, ODG3 C PSMC3-interacting protein 608665 REc, R Ovarian dysgenesis 3, 614324 (3)
17.596 10 26 99 17q21.2 RAB5C, RABL C Ras-associated protein RAB5c 604037 REc, A
17.597 5 11 16 17q21.2 SMARCE1, BAF57, CSS5 P SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily E, member 1 603111 REc {Meningioma, familial, susceptibility to}, 607174 (3); Coffin-Siris syndrome 5, 616938 (3)
17.598 9 26 17 17q21.2 STAT5A, STAT5, MGF C Signal transducer and activator of transcription 5a 601511 REn, REc 11(Stat5a)
17.599 9 1 16 17q21.2 TTC25, CILD35 P Tetratricopeptide repeat domain-containing protein 25 617095 REc Ciliary dyskinesia, primary, 35, 617092 (3)
17.600 12 23 05 17q21.2 WIRE, WICH P WASP-interacting protein-related protein 609692 R, REc
17.601 10 30 08 17q21.2 HAP1, HLP, HAP2 C Huntingtin-associated protein 1 (neuroan 1) 600947 H, A 11(Hap1)
17.602 12 11 98 17q21.31 ADAM11, MDC P A disintegrin and metalloproteinase domain 11 155120 REc
17.603 4 17 07 17q21.33 EME1 P Essential meiotic endonuclease 1, S. pombe, homolog of, 1 610885 REc 11(Eme1)
17.604 11 19 98 17q21.3 ERDA1 P Expanded repeat domain, CAG/CTG, 1 603279 A no apparent pathology
17.605 4 27 12 17q21.32 HOXBAS5, PRAC2 P HOXB cluster antisense RNA 5 610787 REc
17.606 12 4 03 17q21.32 IGF2BP1, IMP1, CRDBP, ZBP1 P Insulin-like growth factor 2 mRNA-binding protein 1 608288 A 11(Crdbp)
17.607 3 15 10 17q21.33 LUC7L3, CROP, LUC7A P Luc7, S. cerevisiae, homolog of, 3 609434 R, REc
17.608 2 26 08 17q21.32 MRPL10, MRPL8 P Mitochondrial ribosomal protein L10 611825 R
17.609 11 28 01 17q21.32 NESH P NESH protein 606363 Psh, R
17.610 5 17 95 17q21.32 NFE2L1, NRF1 C Nuclear factor, erythroid-derived 2-like 1 163260 A 11(Nfe2l1)
17.611 3 17 98 17q21.33 NME1, NM23 C Non-metastatic cells 1, protein (NM23A) expressed in 156490 A, Fd, REa Neuroblastoma, 256700 (3)
17.612 5 27 93 17q21.33 NME2 C Non-metastatic cells 2, protein (NM23) expressed in 156491 REa, A, REn
17.613 10 3 07 17q21.31 PLEKHM1, AP162, KIAA0356, OPTB6 P Pleckstrin homology domain-containing protein, family M, member 1 611466 R, REc Osteopetrosis, autosomal recessive 6, 611497 (3)
17.614 2 21 07 17q21.32 PRAC1 P Prostate, rectum, and colon gene 609819 REc
17.615 3 19 08 17q21.31 RUNDC3A, RPIP8 P RUN domain contain 3A 605448 REc
17.616 7 19 12 17q21.33 RAC4, PPTC, HK1 P Tachykinin 4 607833 REc
17.617 12 17 12 17q21.32 SCRN2, SES2 P Secernin 2 614966 REc
17.618 4 17 06 17q21.32 TBX21, TBET P T-box 21 604895 REc, H {Asthma, aspirin-induced, susceptibility to}, 208550 (3); Asthma and nasal polyps, 208550 (3) 11(Tbx21)
17.619 9 15 17 17q21.31 UBTF, UBF, CONDBA P Upstream binding transcription factor, RNA polymerase I 600673 A, R Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3)
17.620 4 17 07 17q21.2 VPS25, FAP20 P Vacuolar protein sorting 25, S. cerevisiae, homolog of 610907 REc
17.621 4 17 07 17q21.33 WFIKKN2, WFIKKNRP P WAP, fillistatin, immunoglobulin, Kunitz, and NTR domains-containing protein 2 610895 REc
17.622 7 11 14 17q21.33 DLX3, TDO, AI4 C Distal-less homeo box-3 600525 REa, A, Fd Trichodontoosseous syndrome, 190320 (3); Amelogenesis imperfecta, type IV, 104510 (3)
17.623 2 4 16 17q21.33 DLX4, DLX7, DLX8, OFC15 P Distal-less homeo box-4 601911 A mutation identified in 1 OFC15 family ?Orofacial cleft 15, 616788 (3)
17.624 3 20 94 17q21.32 GIP C Gastric inhibitory polypeptide 137240 REa, A 11(Gip)
17.625 2 28 08 17q21.33 MRPL27 P Mitochondrial ribosomal protein L27 611837 R
17.626 12 19 11 17q22 SRSF1, SFRS1, ASF, SF2, SRp30a P Splicing factor, arginine/serine-rich 1 (splicing factor 2, alternate splicing factor) 600812 REa, A 11(Sfrs1)
17.627 8 6 15 17q21.33 XYLT2, XT2, SOS P Xylosyltransferase 2 608125 R {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3); Spondyloocular syndrome, 605822 (3)
17.628 2 16 10 17q21.31 AARSD1 P Alanyl-tRNA synthetase domain-containing 1 613212 REc
17.629 1 31 13 17q21.31 ASB16 P Ankyrin repeat- and SOCS box-containing protein 16 615056 REc
17.630 6 13 12 17q21.31 CCDC103, SMH, PR46B, CILD17 P Coiled-coil domain-containing protein 103 614677 REc Ciliary dyskinesia, primary, 17, 614679 (3)
17.631 5 24 13 17q21.31 CD300LG, TREM4, CLM9 P CD300 antigen-like family, member G 610520 REc
17.632 8 21 12 17q21.2 COA3, CCDC56 P Cytochrome c oxidase assembly factor 3 614775 REc
17.633 1 27 11 17q21.31 DUP17q21.31, C17DUPq21.31 P Chromosome 17q21.31 duplication syndrome 613533 Ch contiguous gene duplication syndrome Chromosome 17q21.31 duplication syndrome (4)
17.634 10 29 03 17q21.32 CDK5RAP3 P CDK5 regulatory subunit-associated protein 3 608202 REc
17.635 4 30 09 17q21.31 DHX8, DDX8, HRH1 P DEAH (Asp-Glu-Ala-His) box polypeptide 8 600396 REc
17.636 3 7 13 17q21.31 EFTUD2, KIAA0031, MFDGA P Elongation factor Tu GTP-binding domain-containing 2 603892 REa Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3)
17.637 12 19 11 17q21.31 GPATCH8, KIAA0553 C G-patch domain-containing protein 8 614396 R, REc 16(Gpatch8)
17.638 12 5 03 17q21.31 IMP5 P Intramembrane protease 5 608284 REc
17.639 10 4 12 17q21.31 KANSL1, KIAA1267, MSL1V1, KDVS P KAT8 regulatory NSL complex subunit 1 612452 R, REc Koolen-De Vries syndrome, 610443 (3)
17.640 4 19 12 17q21.31 KIF18B P Kinesin family member 18B 614570 REc
17.641 2 14 08 17q21.31 LSM12 P LSM12, S. cerevisiae, homolog of 611793 REc
17.642 5 2 16 17q21.31 MEIOC, C17orf104 P Meiosis-specific protein with coiled-coil domain 616934 REc 11(Meioc)
17.643 3 5 08 17q12 MRPL45 P Mitochondrial ribosomal protein L45 611850 REc pseudogenes on 2 and 17
17.644 12 21 03 17q21.31 NAGS C N-acetylglutamate synthase 608300 REc N-acetylglutamate synthase deficiency, 237310 (3) 11(Nags)
17.645 9 17 08 17q21.31 NMT1, NMT P N-myristoyltransferase 1 160993 REc
17.646 7 22 13 17q21.31 SLC25A39, CGI69 C Solute carrier family 25, member 39 610820 REc, R 11(Slc25a39)
17.647 12 22 17 17q21.33 COL1A1, OI1, OI2, OI3, OI4, EDSARTH1 C Collagen I, alpha-1 polypeptide 120150 C, M, A, REa fused with PDGFB in DFPB Osteogenesis imperfecta, type I, 166200 (3); Osteogenesis imperfecta, type II, 166210 (3); Osteogenesis imperfecta, type III, 259420 (3); Caffey disease, 114000 (3); Osteogenesis imperfecta, type IV, 166220 (3); {Bone mineral density variation QTL, osteoporosis}, 166710 (3); Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3) 11(Col1a1)
17.648 4 17 13 17q21.31-q22 MRT35 P Mental retardation, autosomal recessive 35 615162 Fd between rs4792947 and rs11079258 Mental retardation, autosomal recessive 35 (2)
17.649 9 24 15 17q21.31 LRRC37A P Leucine-rich repeat-containing protein 37A 616555 A, REc
17.650 9 24 15 17q21.31-q21.32 LRRC37A2 P Leucine-rich repeat-containing protein 37A2 616556 A, REc
17.651 11 19 13 17q21.32 COPZ2 P Coatomer protein complex, subunit zeta-2 615526 REc
17.652 7 18 12 17q21.31 GRN, CLN11 C Granulin 138945 REa, REc, REn Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3); Aphasia, primary progressive, 607485 (3); Ceroid lipofuscinosis, neuronal, 11, 614706 (3)
17.653 3 23 14 17q21.31 HEXIM2 P Hexamethylene bis acetamide-inducible protein 2 615695 REc
17.654 5 6 13 17q21.31 ITGA2B, GP2B, CD41B, GT, BDPLT2, BDPLT16 C Integrin, alpha-2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) 607759 A, REb, REa, RE, F, LD 3' to GP3A; BAK platelet antigen Glanzmann thrombasthenia, 273800 (3); Thrombocytopenia, neonatal alloimmune, BAK antigen related (3); Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
17.655 5 6 13 17q21.32 ITGB3, GP3A, GT, BDPLT2, BDPLT16 C Integrin, beta-3 (platelet glycoprotein IIIa; antigen CD61) 173470 REa, REb, A, RE, F, LD in same 260kb fragment as GP2B; PL(A) platelet antigen Glanzmann thrombasthenia, 273800 (3); Thrombocytopenia, neonatal alloimmune (3); {Myocardial infarction, susceptibility to}, 608446 (3); Purpura, posttransfusion (3); Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
17.656 3 23 15 17q21.33 KAT7, MYST2, HBO1 P K(lysine) acetyltransferase 7 609880 R, REc
17.657 5 15 11 17q21.32 MIR152, MIRN152 P Micro RNA 152 613788 REc
17.658 12 27 16 17q21.32 MYL4 C Myosin, light polypeptide-4, alkali, atrial, embryonic 160770 REa mutation identified in 1 ATFB18 family ?Atrial fibrillation, familial, 18, 617280 (3) 11(Myla)
17.659 7 3 06 17q21.32 PNPO P Pyridoxamine 5'-phosphate oxidase 603287 REc, H Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3) 11(Pnpo)
17.660 1 30 12 17q21.32 SKAP1, SCAP1, SKAP55 P SRC kinase-associated phosphoprotein 1, 55kD 604969 R, REc
17.661 4 17 07 17q21.32 SNF8, VPS22, EAP30 P SNF8, S. cerevisiae, homolog of 610904 R, REc
17.662 12 10 12 17q21.32 SNX11 P Sorting nexin 11 614906 REc
17.663 9 27 17 17q21.32 SP2 P Transcription factor Sp2 601801 REc 11(Sp2)
17.664 3 18 13 17q21.32 TBKBP1, PROSAPIP2, KIAA0775 P TBK1-binding protein 1 608476 REc
17.665 3 15 07 17q21.32 TTLL6 P Tubulin tyrosine ligase-like family, member 6 610849 REc
17.666 4 2 16 17q21.32 UBE2Z, USE1 P Ubiquitin-conjugating enzyme E2Z 611362 REc
17.667 5 23 13 17q21.32-q21.33 ZNF652, KIAA0924 P Zinc finger protein 652 613907 R, REc
17.668 6 10 08 17q21.33 ACSF2, FLJ20920 P Acyl-CoA synthetase family member 2 610465 R, REc
17.669 6 25 99 17q21.33 CHAD P Chondroadherin 602178 Psh, A
17.670 1 27 04 17q21.33 HILS1 P Spermatid-specific linker histone H1-like protein 608101 REc 11(Hils1)
17.671 12 21 12 17q21.33 ITGA3, CD49C, GAPB3, ILNEB P Integrin, alpha-3 605025 REc Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)
17.672 10 11 12 17q21.33 LRRC59, p34 P Leucine-rich repeat-containing protein 59 614854 REc
17.673 11 3 14 17q21.33 NXPH3, NPH3 P Neuroexophilin 3 604636 REc
17.674 9 9 13 17q21.33 PDK2 P Pyruvate dehydrogenase kinase, isoenzyme 2 602525 REc
17.675 10 1 17 17q21.33 PPP1R9B, SPINO P Protein phosphatase 1, regulatory subunit 9B 603325 REc
17.676 3 8 07 17q21.33 SLC35B1, UGTREL1 P Solute carrier family 35, member B1 610790 R, REc
17.677 4 18 02 17q21.33 SPAG9, SYD1, KIAA0516 P Sperm-associated antigen 9 605430 R, REc
17.678 5 16 11 17q21.33 SPATA20, SSP411 P Spermatogenesis-associated protein 20 613939 REc
17.679 12 19 12 17q21.33 SPOP P Speckle-type POZ protein 602650 REc, R
17.680 7 15 09 17q21.33 UTP18 P UTP18, S. cerevisiae, homolog of 612816 REc
17.681 7 18 14 17q21-q22 CA10, CARPX P Carbonic anhydrase X 604642 REc
17.682 2 28 01 17q21.33 ABCC3, CMOAT2, MRP3, MLP2 C ATP-binding cassette, sub-family C, member 3 604323 R, A
17.683 2 22 92 17q22 BCL5 P B-cell CLL/lymphoma-5 151441 REa, A
17.684 10 11 05 17q23.2 BRIP1, BACH1, FANCJ C BRCA1-associated C-terminal helicase 1 605882 REc, Fd ?or 17q23 Breast cancer, early-onset, 114480 (3); Fanconi anemia, complementation group J, 609054 (3)
17.685 12 21 09 17q22 C17orf71, SMG8 P Chromosome 17 open reading frame 71 613175 REc
17.686 2 11 16 17q21.33 CACNA1G, SCA42 P Calcium channel, voltage-dependent, T type, alpha-1G subunit 604065 A, R, H Spinocerebellar ataxia 42, 616795 (3) 11(Cacna1g)
17.687 8 20 99 17q22 COX11 P Cytochrome c oxidase, subunit 11 603648 REa pseudogene on 6p23-p22
17.688 7 23 15 17q22 DGKE, NPHS7, AHUS7 P Diacylglycerol kinase, epsilon, 64-kD 601440 A, R Nephrotic syndrome, type 7, 615008 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
17.689 8 21 00 17q22 HLF P Hepatic leukemia factor 142385 Ch, R
17.690 4 8 13 17q22 KIF2B P Kinesin family member 2B 615142 REc
17.691 3 7 14 17q22 MIR142 P Micro RNA 142 615657 REc
17.692 3 23 14 17q22 MIR301A, MIR301 P Micro RNA 301A 615675 REc
17.693 4 19 12 17q22 MMD, MMD1, PAQR11 P Monocyte-to-macrophage differentiation-associated protein 604467 REc
17.694 2 21 14 17q22 MSI2 P Musashi, Drosophila, homolog of, 2 607897 A, REc 11(Msi2)
17.695 10 23 15 17q22 NOG, SYM1, SYNS1A C Noggin, mouse, homolog of 602991 A, R, Fd Symphalangism, proximal, 1A, 185800 (3); Multiple synostoses syndrome 1, 186500 (3); Tarsal-carpal coalition syndrome, 186570 (3); Stapes ankylosis with broad thumbs and toes, 184460 (3); Brachydactyly, type B2, 611377 (3)
17.696 11 30 06 17q25.1 PRCD, RP36 P PRCD, Dog, homolog of 610598 REc Retinitis pigmentosa 36, 610599 (3)
17.697 7 8 10 17q22 RAD51C, FANCO, BROVCA3 P RAD51, S. cerevisiae, homolog of, C 602774 REc Fanconi anemia, complementation group O, 613390 (3); {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3)
17.698 8 18 14 17q22 PRR11 P Proline-rich protein 11 615920 REc
17.699 12 2 15 17q22 SKA2, FAM33A P Spindle- and kinetochore-associated complex, subunit 2 616674 REc
17.700 2 25 15 17q22 STXBP4, SYNIP P Syntaxin-binding protein 4 610415 REc
17.701 10 1 17 17q22 TEX14, SPGF23 C Testis-expressed gene 14 605792 R, REc, H mutation identified in 1 SPGF23 family ?Spermatogenic failure 23, 617707 (3) 11(Tex14)
17.702 4 30 15 17q22 TMEM100 P Transmembrane protein 100 616334 REc
17.703 7 11 12 17q22 TOM1L1 P TOM1-like 1 604701 REc
17.704 5 12 03 17q23.1-q23.2 USP32, USP10 P Ubiquitin-specific protease 32 607740 REc
17.705 9 24 08 17q22 VEZF1, ZNF161 P Vascular endothelial zinc finger 1 606747 R
17.706 9 30 02 17q23.2 APPBP2, PAT1 C Amyloid beta precursor protein-binding protein 2 605324 R, REc
17.707 1 12 95 17q22 COIL, CLN80 P Coilin p80 600272 A
17.708 2 1 11 17q23.2 MED13, THRAP1, TRAP240 P Mediator complex subunit 13 603808 REa, REc
17.709 4 24 08 17q22 MRPS23 P Mitochondrial ribosomal protein S23 611985 R, REc
17.710 5 19 17 17q23.2 PPM1D, WIP1, IDDGIP P Protein phosphatase, magnesium-dependent, 1, delta isoform 605100 A, REc amplified in breast cancer Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450 (3); Breast cancer, somatic, 114480 (3)
17.711 3 22 93 17q11.2 TNFAIP1 P Tumor necrosis factor, alpha-induced protein-1 (endothelial) 191161 A
17.712 11 26 01 17q22 TRIM37, MUL, KIAA0898 C Tripartite motif-containing 37 605073 Fd, Ld, REn Mulibrey nanism, 253250 (3)
17.713 3 17 98 17q24.2 PRKCA, PKCA C Protein kinase C, alpha polypeptide 176960 REa, A, Fd cen-COL1A1-PKCA-GH1 Pituitary tumor, invasive (3) 11(Pkca)
17.714 3 26 02 17q25.1 CMRF35, CMRF35A P CMRF35 antigen 606786 Psh, A
17.715 7 18 91 17q23.3 CSH1, CSA, PL C Chorionic somatomammotropin hormone-1 150200 REa, A [Placental lactogen deficiency] (1) 13(Pl1)
17.716 7 18 91 17q23.3 CSH2, CSB C Chorionic somatomammotropin B 118820 REa, A 13(Pl2)
17.717 6 25 99 17q23.3 CSHL1, CSL P Chorionic somatomammotropin hormone-like 1 603515 A
17.718 7 14 09 17q23.3 GH1, GHN, IGHD1B C Growth hormone-1 139250 REa, A, Fd 5'-GH1-CSHP1-CSH1-GH2-CSH2-3' Growth hormone deficiency, isolated, type IA, 262400 (3); Growth hormone deficiency, isolated, type IB, 612781 (3); Growth hormone deficiency, isolated, type II, 173100 (3); Kowarski syndrome, 262650 (3) 11(Gh)
17.719 9 16 88 17q23.3 GH2, GHV C Growth hormone-2 139240 REa, A
17.720 2 21 14 17q23.3 TACO1, CCDC44 P Translational activator of mitochondrially encoded cytochrome c oxidase subunit I 612958 REc Mitochondrial complex IV deficiency, 220110 (3)
17.721 2 17 04 17q25.1 FOXJ1, FKHL13, HFH4 P Forkhead box J1 602291 REc
17.722 11 5 98 17q25.1 CDK3 P Cyclin-dependent kinase 3 123828 Psh distal to BRCA1
17.723 7 25 16 17q23.3 ACE, DCP1, ACE1, MVCD3, ICH C Angiotensin I converting enzyme (dipeptidyl carboxypeptidase-1) 106180 A, H, Fd {Myocardial infarction, susceptibility to} (3); {Microvascular complications of diabetes 3}, 612624 (3); [Angiotensin I-converting enzyme, benign serum increase] (3); {SARS, progression of} (3); Renal tubular dysgenesis, 267430 (3); {Stroke, hemorrhagic}, 614519 (3)
17.724 5 19 06 17q23 BSZQTL P Bone size quantitative trait locus 1 609656 Fd {Bone size QTL} (2)
17.725 7 20 04 17q23.1 CA4, RP17 C Carbonic anhydrase IV 114760 REa, A, Fd Retinitis pigmentosa 17, 600852 (3)
17.726 8 3 10 17q23.3 CD79B, IGB, B29, AGM6 P CD79B antigen 147245 A Agammaglobulinemia 6, 612692 (3)
17.727 2 16 18 17q23.1 CLTC, MRD56 C Clathrin, heavy polypeptide (Hc) 118955 REc, Ch fusion gene with TFE3 in renal adenocarcinoma Mental retardation, autosomal dominant 56, 617854 (3)
17.728 5 22 14 17q23.1 LNCDC, LOC615638 P Long noncoding RNA, dendritic cell 615772 REc
17.729 9 23 16 17q22 MKS1, MKS, BBS13, JBTS28 C MKS1 gene 609883 Fd, REc frequent in Finland Meckel syndrome 1, 249000 (3); Bardet-Biedl syndrome 13, 615990 (3); Joubert syndrome 28, 617121 (3)
17.730 9 15 96 17q23.3 PECAM1 P Platelet/endothelial cell adhesion molecule (CD31 antigen) 173445 Psh, A 6(Pecam1)
17.731 7 1 05 17q22 SEPT4, PNUTL2 C Septin 4 603696 A, REc 11(Sept4)
17.732 2 19 97 17q23.2 TBX2 C T-box 2 600747 A, H 11(Tbx2)
17.733 3 4 02 17q24.2 KPNA2, RCH1, QIP2 P Karyopherin alpha-2 600685 REc
17.734 7 17 06 17q23.3 POLG2, POLGB, PEOA4 P Polymerase, DNA, gamma-2 604983 REc Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)
17.735 8 14 15 17q24.2 PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1 C Protein kinase, cAMP-dependent, regulatory, type I, alpha 188830 S, M, REa, RE, Fd fused with RET to form PTC2 Carney complex, type 1, 160980 (3); Myxoma, intracardiac, 255960 (3); Pigmented nodular adrenocortical disease, primary, 1, 610489 (3); Adrenocortical tumor, somatic, (3); Acrodysostosis 1, with or without hormone resistance, 101800 (3) 11(Tse1)
17.736 1 27 04 17q24.1 RGS9, PERRS C Regulator of G protein signaling 9 604067 R, A Bradyopsia, 608415 (3)
17.737 5 30 17 17q23.3 SMARCD2, BAF60B, SGD2 P SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily d, member 2 601736 Psh, R Specific granule deficiency 2, 617475 (3)
17.738 3 4 96 17q23.3 DDX5, HLR1, G17P1 C DEAD/H box-5 (RNA helicase, 68kD) 180630 REa, REn near BRCA1
17.739 10 4 91 17q23.3 ICAM2 P Intercellular adhesion molecule-2 146630 REa, C
17.740 3 5 08 17q25.1 MRPL38 P Mitochondrial ribosomal protein L38 611844 R, REc
17.741 2 15 18 17q25.1 MRPS7, COXPD34 P Mitochondrial ribosomal protein S7 611974 R, REc mutation identified in 1 COXPD34 family ?Combined oxidative phosphorylation deficiency 34, 617872 (3)
17.742 5 1 02 17q25.1 NT5C, UMPH2, DNT1 C 5', 3' nucleotidase, cytosolic 191720 REa 11(Umph2)
17.743 1 24 11 17q24.2 APOH C Apolipoprotein H (beta-2-glycoprotein I) 138700 Fd, REa 11(Apoh)
17.744 10 23 87 17q23-qter PEPE C Peptidase E 170200 S
17.745 8 18 15 17q22 EPX, EPXD P Eosinophil peroxidase 131399 REa, A [Eosinophil peroxidase deficiency], 261500 (3)
17.746 3 9 01 17q22 LPO P Lactoperoxidase 150205 REn
17.747 5 5 09 17q23.1 MIR21, MIRN21 P Micro RNA 21 611020 REc
17.748 8 30 07 17q22 MPO C Myeloperoxidase 606989 REa, A, F, Ch, C, REc translocated in t(15;17)(q22;q11.2) Myeloperoxidase deficiency, 254600 (3); {Alzheimer disease, susceptibility to}, 104300 (3); {Lung cancer, protection against, in smokers} (3) 11(Mpo)
17.749 3 13 15 17q23.1 PTRH2, BIT1, IMNEPD P Peptidyl-tRNA hydrolase 2 608625 R, REc Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (3)
17.750 4 17 13 17q23.1 RNFT1 P RING finger protein, transmembrane 1 615172 REc 11(Rnft1)
17.751 10 15 09 17q23.1 RPS6KB1, S6K1 P Ribosomal protein S6 kinase, 70kD 608938 R, REc
17.752 3 23 95 17q22 TRIM25, ZNF147, EFP C Tripartite motif-containing 25 600453 A, REc 300kb from MPO 11(Efp)
17.753 2 5 13 17q23.1 VMP1, TMEM49, EPG3 P Vacuole membrane protein 1 611753 R, REc
17.754 4 20 10 17q23.1-q23.2 DEL17q23.1q23.2, C17DELq23.1q23.2 P Chromosome 17q23.1-q23.2 deletion syndrome 613355 Ch Chromosome 17q23.1-q23.2 deletion syndrome (4)
17.755 11 1 10 17q23.1-q23.2 DUP17q23.1q23.2, C17DUPq23.1q23.2 P Chromosome 17q23.1-q23.2 duplication syndrome 613618 Ch 2.2 Mb contiguous gene duplication syndrome Chromosome 17q23.1-q23.2 duplication syndrome (4)
17.756 9 12 12 17q24.3 KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9 C Potassium channel, inwardly rectifying, subfamily J, member 2 600681 R, REc Andersen syndrome, 170390 (3); Short QT syndrome 3, 609622 (3); Atrial fibrillation, familial, 9, 613980 (3) 11(Irk1)
17.757 4 30 15 17q23.3 SCN4A, HYPP, NAC1A, HOKPP2, CMS16 C Sodium channel, voltage-gated, type IV, alpha polypeptide 603967 REa, Fd 21.5kb from GH1 Hyperkalemic periodic paralysis, type 2, 170500 (3); Paramyotonia congenita, 168300 (3); Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3); Myasthenic syndrome, congenital, 16, 614198 (3); Hypokalemic periodic paralysis, type 2, 613345 (3)
17.758 4 1 09 17q22 BZRAP1, PRAX1, RIMBP1, KIAA0612 C Benzodiazapine receptor (peripheral)-associated protein 1 610764 R, A, REc, H 11(Bzrap1)
17.759 2 21 06 17q22 DYNLL2, DLC2 P Dynein, light chain, LC8-type 2 608942 REc
17.760 4 14 15 17q22 GDPD1, GDE4 P Glycerophosphodiester phosphodiesterase domain-containing protein 1 616317 REc
17.761 3 23 14 17q23.2 INTS2, INT2, KIAA1287 P Integrator complex subunit 2 611346 REc
17.762 6 7 10 17q23.2 MARCH10 P Membrane-associated RING-CH finger protein 10 613337 REc
17.763 9 24 08 17q23.2 MRC2, ENDO180, UPARAP, CD280 P Mannose receptor, C-type, 2 612264 R, REc
17.764 9 27 16 17q22 RNF43, RNF124, SSPCS P Ring finger protein 43 612482 REc Sessile serrated polyposis cancer syndrome, 617108 (3)
17.765 8 8 13 17q23.2 TLK2 P Tousled-like kinase 2 608439 A, REc
17.766 12 29 08 17q22 YPEL2 P Yippee-like 2 609723 REc 11(Ypel2)
17.767 8 24 09 17q23.2-q25.1 BMIQ15 P Body mass index quantitative trait locus 15 612967 Fd associated with rs228883 and rs1005651 [Body mass index QTL 15] (2)
17.768 4 20 10 17q23.3 DDX42, RHELP P DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 613369 REc
17.769 4 30 09 17q23.1 DHX40, DDX40 P DEAH (Asp-Glu-Ala-His) box polypeptide 40 607570 REc
17.770 12 10 13 17q23.3 ERN1, IRE1, IRE1A P Endoplasmic reticulum-to-nucleus signaling 1 604033 REc
17.771 3 14 13 17q23.3 KCNH6, HERG2 P Potassium channel, voltage-gated, subfamily H, member 6 608168 REc
17.772 6 26 14 17q23.3 MAP3K3, MEKK3, MAPKKK3 P Mitogen-activated kinase kinase kinase 3 602539 REc
17.773 5 19 09 17q23.3 STRADA, STRAD, LYK5 C STE20-related kinase adaptor alpha 608626 REc Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3)
17.774 1 31 13 17q23.2-q23.3 TANC2, KIAA1636 P Tetratricopeptide repeat-, ankyrin repeat-, and coiled-coil-containing protein 2 615047 REc
17.775 5 12 09 17q23.3 TCAM1 P Testicular cell adhesion molecule 1 612756 REc 11(Tcam1)
17.776 4 21 14 17q23.3-q24.1 SMURF2 P SMAD-specific E3 ubiquitin protein ligase 2 605532 REc
17.777 2 19 13 17q24.1 AXIN2, ODCRCS C Axis inhibitor 2 (conductin, mouse, homolog of) 604025 R, A Oligodontia-colorectal cancer syndrome, 608615 (3); Colorectal cancer, somatic, 114500 (3)
17.778 11 7 17 17q24.2 BPTF, FALZ, FAC1, NURF301, NEDDFL P Bromodomain PHD finger transcription factor 601819 A Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3)
17.779 4 29 97 17q24.2 CACNG1, CACNLG C Calcium channel, voltage-dependent, gamma-1 subunit 114209 A
17.780 11 28 01 17q24.2 CACNG5 P Calcium channel, voltage-dependent, gamma-5 subunit 606405 REc
17.781 5 13 13 17q24 CTRCT7, CCA1 P Cataract 7 115660 Fd Cataract 7 (2)
17.782 5 6 03 17q25.1 CMRF35H, CMRF35H9 P CMRF35H antigen 606790 Psh, A
17.783 11 29 99 17q25.1 GALK1 C Galactokinase-1 604313 S, Ch, R, C, A Galactokinase deficiency with cataracts, 230200 (3) 11(Glk)
17.784 6 23 15 17q24 SRXY10 C 46,XY sex reversal 10 616425 Ch deletion of 32.5kb XYSR regulatory region upstream of SOX9 46XY sex reversal 10 (4)
17.785 2 3 03 17q25.1 SSTR2 C Somatostatin receptor-2 182452 REa 11(Sstr2)
17.786 12 12 00 17q25.1 CDC42EP4, BORG4 P CDC42 effector protein 4 (binder of Rho GTPases 4) 605468 A 11(Borg4)
17.787 10 13 17 17q25.1 FDXR, ADXR, ANOA C Ferredoxin reductase (adrenodoxin reductase) 103270 REa, A Auditory neuropathy and optic atrophy, 617717 (3)
17.788 10 20 99 17q25.1 GRB2 C Growth factor receptor-bound protein 2 108355 A, REa 11(Grb2)
17.789 10 22 96 17q25.1 PRPSAP1 P Phosphoribosyl pyrophosphate synthetase-associated protein-1 601249 Psh, A
17.790 2 24 97 17q23.3 PSMC5, TRIP1 P Proteasome (prosome, macropain) 26S subunit, ATPase, 5 601681 Psh, A
17.791 4 23 03 17q25.1 SANS, USH1G C Scaffold protein containing ankyrin repeats and SAM domain 607696 Fd ?allelic to DFNA20 Usher syndrome, type 1G, 606943 (3)
17.792 5 22 07 17q25.1 TRIM47, GOA P Tripartite motif-containing protein 47 611041 A
17.793 9 24 15 17q24.1 LRRC37A3 P Leucine-rich repeat-containing protein 37A3 616557 A, REc
17.794 12 23 08 17q24.3 ABCA5, KIAA1888 C ATP-binding cassette, subfamily A, member 5 612503 Psh, R, REc
17.795 12 22 08 17q24.2-q24.3 ABCA6 P ATP-binding cassette, subfamily A, member 6 612504 REc
17.796 12 22 08 17q24.2 ABCA8, KIAA0822 C ATP-binding cassette, subfamily A, member 8 612505 R, REc
17.797 12 24 08 17q24.2 ABCA9 P ATP-binding cassette, subfamily A, member 9 612507 REc
17.798 12 24 08 17q24.3 ABCA10 P ATP-binding cassette, subfamily A, member 10 612508 REc
17.799 4 17 13 17q24.2 AMZ2 P Archaelysin family metallopeptidase 2 615169 REc
17.800 5 19 06 17q24.2 ARSG, KIAA1001 C Arylsulfatase G 610008 REc
17.801 7 14 14 17q24.2 FAM20A, AIGFS, AI1G P Family with sequence similarity 20, member A 611062 R, REc Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)
17.802 12 5 17 17q24.2 HELZ, KIAA0054, HUMORF5 P Helicase with zinc finger domain 606699 R, REc
17.803 8 19 13 17q24.2 NOL11 P Nucleolar protein 11 615366 REc
17.804 7 14 14 17q24.2 PITPNC1, RDGBB P Phosphatidylinositol transfer protein, cytoplasmic, 1 605134 REc
17.805 6 12 17 17q24.2 PSMD12, P55, STISS P Proteasome 26S subunit, non-ATPase, 12 604450 REc Stankiewicz-Isidor syndrome, 617516 (3)
17.806 8 24 09 17q24.2-q24.3 HTGH, DEL17q24 P Hypertrichosis terminalis, generalized, with or without gingival hyperplasia (chromosome 17q24 microdeletion syndrome) 135400 Ch Hypertrichosis terminalis, generalized, with or without gingival hyperplasia (4)
17.807 3 11 08 17q24.1 GNA13 P Guanine nucleotide-binding protein, alpha-13 604406 R, REc
17.808 8 17 16 17q24.3 LINC00673, HILNC75, SLNCR, LUCAIR1 P Long intergenic noncoding RNA 673 617079 REc
17.809 11 19 10 17q24.3 MAP2K6, PRKMK6, MKK6, MEK6, MAPKK6 P Mitogen-activated protein kinase kinase 6 601254 REc
17.810 3 30 18 17q24.3 TTPP3 P Thyrotoxic periodic paralysis, susceptibility to, 3 614834 Fd associated with rs312691 {Thyrotoxic periodic paralysis, susceptibility to, 3} (2)
17.811 4 26 11 17q24.3-q25.1 SRXX2, DUP17q24.3 P 46XX sex reversal 2 278850 Ch duplication or triplication of 68kb XXSR regulatory region upstream of SOX9 46XX sex reversal 2 (4)
17.812 5 19 09 17q24.3-q25.1 PRBNS P Pierre Robin syndrome 261800 Fd between D17S795 and D17S929 Pierre Robin syndrome (2)
17.813 8 7 15 17q24.3-q25.1 SLC39A11, ZIP11, C17orf26 P Solute carrier family 39 (zinc transporter), member 11 616508 REc
17.814 5 24 13 17q25.3 C1QTNF1, GIP P C1q- and tumor necrosis factor-related protein 1 610365 REc
17.815 6 23 15 17q24.3 SOX9, CMD1, SRA1 C SRY (sex-determining region Y)-box 9 608160 Ch, REn Campomelic dysplasia with autosomal sex reversal, 114290 (3); Acampomelic campomelic dysplasia, 114290 (3); Campomelic dysplasia, 114290 (3) 11(Ts, Sox9)
17.816 12 30 15 17q25.1 AANAT, SNAT P Arylalkylamine N-acetyltransferase 600950 Psh, A 11(Nat4)
17.817 4 6 00 17q25.3 API4 P Apoptosis inhibitor 4 603352 A
17.818 6 7 06 17q25.3 ASPSCR1, RCC17, ASPL, ASPS P Alveolar soft-part sarcoma chromosome region, candidate 1 606236 Ch t(X;17)(p11.2;q25) Alveolar soft-part sarcoma, 606243 (3)
17.819 2 26 02 17q25.3 BAIAP2, IRSP53 P BAI1-associated protein 2 605475 A
17.820 1 22 16 17q25.3 CBX2, M33, SRXY5 P Chromobox homolog 2, Drosophila polycomb class 602770 A mutation identified in 1 SRXY5 patient ?46XY sex reversal 5, 613080 (3)
17.821 2 11 98 17q25 CDR3 L Cerebellar degeneration-related autoantigen-3 602197 H 11(Cdr3)
17.822 5 13 13 17q25.3 CSNK1D, ASPS, FASPS2 C Casein kinase-1, delta 600864 A, Psh Advanced sleep-phase syndrome, familial, 2, 615224 (3)
17.823 10 1 10 17q25.1 CYGB, HGB, STAP P Cytoglobin 608759 REc
17.824 9 30 09 17q25.3 CYTH1, D17S811E, SEC7 P Cytohesin 1 182115 Psh, A
17.825 8 19 13 17q25.3 DNAH17, DNEL2 P Dynein, axonemal, heavy chain 17 610063 A, R
17.826 12 3 08 17q25.1 DNAI2, CILD9 C Dynein, axonemal, intermediate chain 2 605483 Psh, A Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
17.827 12 30 15 17q25 DSPS P Delayed sleep phase syndrome, susceptibility to 614163 Fd associated with rs28936679 in AANAT {Delayed sleep phase syndrome, susceptibility to} (2)
17.828 1 5 11 17q25 EPR1 P Effector cell protease receptor 1 603411 A
17.829 4 14 10 17q25.3 TMC8, EVER2, EV2 C Transmembrane channel-like 8 605829 Fd, REc previously mapped to 2p24-p21 Epidermodysplasia verruciformis, 226400 (3)
17.830 1 21 97 17q25.1 EVPL P Envoplakin 601590 REa, A
17.831 1 12 95 17q25.3 FASN P Fatty acid synthase 600212 A
17.832 12 18 07 17q25.3 FN3KRP P Fructosamine 3-kinase-related protein 611683 REc
17.833 1 18 12 17q25.3 FOXK2, ILF1 P Forkhead box K2 (interleukin enhancer-binding factor 1) 147685 REa, A
17.834 6 25 03 17q25.3 FSCN2, RFSN, RP30 P Fascin, sea urchin, homolog of, 2 607643 A, REc within 200kb of ACTG1 Retinitis pigmentosa 30, 607921 (3)
17.835 3 17 98 17q25.3 GCGR P Glucagon receptor 138033 A, Fd {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
17.836 6 20 94 17q25.1 GRIN2C, NMDAR2C P Glutamate receptor, ionotropic, N-methyl D-aspartate 2C 138254 A
17.837 2 16 96 17q25.1 H3F3B P H3 histone, family 3B (H3.3B) 601058 A
17.838 2 7 01 17q25.3 HGS, HRS C Human growth factor-regulated tyrosine kinase substrate 604375 REa, A
17.839 11 12 07 17q25.1 JMJD6, PSR P Jumonji domain containing 6 (phosphatidylserine receptor) 604914 REc
17.840 5 29 01 17q24.3 KCNJ16, KIR5.1 P Potassium channel, inwardly rectifying, subfamily J, member 16 605722 R
17.841 7 12 95 17q25.3 LGALS3BP P Lectin, galactoside-binding, soluble, 3 binding protein (galectin 6 binding protein) 600626 A 11(Lgals3bp)
17.842 8 20 99 17q25.3 MAFG C v-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein G 602020 A
17.843 4 7 15 17q25.3 P4HB, PROHB, CLCRP1 C Procollagen-proline, 2-oxoglutarate-4-dioxygenase, beta polypeptide 176790 S, REa, A, C Cole-Carpenter syndrome 1, 112240 (3)
17.844 10 7 10 17q25.3 PDE6G, PDEG, RP57 C Phosphodiesterase-6G, cGMP-specific, rod, gamma 180073 REa, A, Fd Retinitis pigmentosa 57, 613582 (3) 11(Pdeg)
17.845 11 11 10 17q25.1 NUP85, PCNT1, PCNT P Nucleoporin 85kD 170285 REc
17.846 5 22 14 17q25.1 RECQL5, RECQ5 P DNA helicase, RecQ-like 5 603781 A
17.847 10 20 99 17q25.3 RFNG P Radical fringe 602578 REa 11(Rfng)
17.848 2 25 11 17q25.3 RNF213, ALO17, KIAA1618, MYMY2 P Ring finger protein 213 613768 Psh, REc, Fd {Moyamoya disease 2, susceptibility to}, 607151 (3)
17.849 7 20 06 17q25.3 SEPT9, MSF, MSF1, NAPB C Septin 9 604061 Ch, REa, Fd Leukemia, acute myeloid, therapy-related (1); Ovarian carcinoma (1); Amyotrophy, hereditary neuralgic, 162100 (3)
17.850 4 6 15 17q25.3 SLC26A11 P Solute carrier family 26 (sulfate transporter), member 11 610117 REc, H 11(Slc26a11)
17.851 12 7 11 17q25.1 SRSF2, SFRS2, SC35 P Serine/arginine-rich splicing factor 2 600813 H, REc 11(Sfrs2)
17.852 11 22 16 17q25.3 TBCD, PEBAT C Tubulin-specific chaperone D 604649 REc Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)
17.853 9 22 93 17q25.3 TIMP2 P Tissue inhibitor of metalloproteinase-2 188825 H, REa, A 11(Timp2)
17.854 4 14 10 17q25.3 TMC6, EVER1, EV1 C Transmembrane channel-like 6 605828 Fd, REc Epidermodysplasia verruciformis, 226400 (3)
17.855 12 4 02 17q25.3 SYNGR2 C Synaptogyrin 2 603926 A, REc pseudogene on 15q11; near EV1, EV2, TK1
17.856 8 25 17 17q25.1 WBP2, DFNB107 P WW domain-binding protein 2 606962 A Deafness, autosomal recessive 107, 617639 (3)
17.857 6 25 99 17q25.3 MRPL12, RPML12 P Ribosomal protein, mitochondrial, L12 602375 A
17.858 4 20 11 17q25.1 ACOX1, ACOX, SCOX C Acyl-Coenzyme A oxidase 1, palmitoyl 609751 A, Psh Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
17.859 9 24 15 17q25.1 CD300H P CD300H antigen 616560 REc
17.860 4 10 15 17q25.1 CD300LD, CD300D P CD300 antigen-like family, member D 616301 REc
17.861 1 22 07 17q25.1 CD300LB, TREM5, IREM3 P CD300 antigen-like family, member B 610705 REc 11(Cd300lb)
17.862 8 29 08 17q25.1 CASKIN2, KIAA1139 P CASK-interacting protein 2 612185 R, REc
17.863 12 23 05 17q25.1 CD300E, CD300LE, IREM2, CLM2 P CD300E antigen 609801 REc
17.864 12 23 05 17q25.1 CD300LF, IGSF13, IREM1, CLM1 C CD300 antigen-like family, member F 609807 REc
17.865 1 14 11 17q25.1 COG1, LDLB, KIAA1381, CDG2G C Component of oligomeric golgi complex 1 606973 R, REc Congenital disorder of glycosylation, type IIg, 611209 (3)
17.866 9 14 05 17q25.1 EXOC1, EX070, KIAA1067 P Exocyst complex component 7 608163 R, REc
17.867 2 12 16 17q25.1 FGF1, ALB P FAS-binding factor 1 616807 REc
17.868 6 13 12 17q25.1 GPR142, PGR2 P G protein-coupled receptor 142 609046 REc 11(Gpr142)
17.869 11 27 17 17q25.1 HID1, 17orf28, DMC1 P HID1 domain-containing protein 1 605752 REc
17.870 3 10 11 17q25.1 ICT1, DS1 P Immature colon carcinoma transcript 1 603000 REc
17.871 7 26 10 17q25.1 KCTD2, KIAA0176 P Potassium channel tetramerization domain-containing 2 613422 R, REc
17.872 8 22 14 17q25.1 METTL23, C17orf95, MRT44 P Methyltransferase-like 23 615262 REc Mental retardation, autosomal recessive 44, 615942 (3)
17.873 12 2 14 17q25.1-q25.3 NDNC9 P Nail disorder, nonsyndromic congenital, 9 (anonychia-onycholysis) 614149 Fd max lod at D17S1301 Nail disorder, nonsyndromic congenital, 9 (2)
17.874 6 24 08 17q25.1 MIF4GD, SLIP1 P MIF4G domain-containing protein 612072 REc
17.875 3 14 06 17q25.1 RAB37 P Pas-associated protein RAB37 609956 R, REc
17.876 4 19 12 17q25.1 RHBDF2, IRHOM2, TOC P Rhomboid 5, Drosophila, homolog of, 2 614404 REc Tylosis with esophageal cancer, 148500 (3)
17.877 10 22 10 17q25.1 SAP30BP, HTRP, HCNGP, HTRG P SAP30-binding protein 610218 R, REc
17.878 10 18 15 17q25.1 SDK2, KIAA1514 P Sidekick, Drosophila, homolog of, 2 607217 REc
17.879 9 23 08 17q25.1 SLC9A3R1, EBP50, NHERF1, NPHLOP2 C Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulatory factor 1 604990 R, REc Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3)
17.880 4 6 01 17q25.1 SRP68 C Signal recognition particle, 68kD 604858 R, A
17.881 8 19 13 17q25.1 ST6GALNAC1, SIAT7A, STYI P ST6 alpha-N-aetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 610138 REc
17.882 3 20 14 17q25.1 ST6GALNAC2, SIAT7B, SAITL1 P ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 610137 REc, Psh
17.883 2 10 17 17q25.1 TEN1, C17orf106 P TEN1, CST complex subunit 613130 REc
17.884 2 13 15 17q25.1 TSEN54, SEN54, PCH2A, PCH4, PCH5 P tRNA splicing endonuclease 54, S. cerevisiae, homolog of 608755 REc mutation identified in 1 PCH5 patient Pontocerebellar hypoplasia type 2A, 277470 (3); Pontocerebellar hypoplasia type 4, 225753 (3); ?Pontocerebellar hypoplasia type 5, 610204 (3)
17.885 9 16 12 17q25.1 TTYH2 P Tweety, Drosophila, homolog of, 2 608855 REc
17.886 8 31 17 17q25.1 UBE2O, KIAA1734 P Ubiquitin-conjugating enzyme E2O 617649 REc 11(Ube2o)
17.887 9 3 04 17q25.1 UNC13D, MUNC13-4, HPLH3, HLH3, FHL3 C UNC13, C. elegans, homolog of, D 608897 Fd, REc Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
17.888 5 19 15 17q25.1 UNK, UNKEMPT, ZC3H5, KIAA1753 P Unkempt family zinc finger protein 616375 REc
17.889 5 20 99 17q25.3 NPTX1, NP1 P Pentraxin I, neuronal 602367 A 11(Nptx1)
17.890 1 6 97 17q25.2-q25.3 SEC14L P SEC14, S. cerevisiae, like 601504 A
17.891 5 7 01 17q25.1 GPRC5C, RAIG3 P G protein-coupled receptor, family C, group 5, member C 605949 REc
17.892 7 12 02 17q25.1 SPHK1 P Sphingosine kinase 603730 REc
17.893 1 2 91 17q25.3 CD7 C CD7 antigen (p41) 186820 S, A 11(Cd7)
17.894 4 11 02 17q25.3 GAA C Glucosidase, acid alpha- 606800 S, A, D, C distal to TK1 Glycogen storage disease II, 232300 (3)
17.895 6 25 99 17q25.3 SECTM1, K12 P Secreted and transmembrane 1 602602 REn
17.896 3 8 96 17q25.3 TK1 C Thymidine kinase-1 188300 S, Ch, R, C, Fd, A 11(Tk1)
17.897 10 31 00 17q25.3 AATK, AATYK C Apoptosis-associated tyrosine kinase 605276 REa, A
17.898 4 19 12 17q25.3 ACTG1, DFNA20, DFNA26, BRWS2 C Actin, gamma-1 102560 REa, A, Fd Deafness, autosomal dominant 20/26, 604717 (3); Baraitser-Winter syndrome 2, 614583 (3)
17.899 5 2 16 17q25.3 ALYREF, THOC4, ALY, BEF P ALY/REF export factor 604171 REc
17.900 3 30 12 17q25.3 ANAPC11, APC11 P Anaphase-promoting complex subunit 11 614534 REc
17.901 8 1 14 17q25.3 ARHGDIA, GDIA1, NPHS8 P Rho GDP dissociation inhibitor (GDI) alpha 601925 A, REa Nephrotic syndrome, type 8, 615244 (3)
17.902 10 12 09 17q25.3 ATOD4 P Dermatitis, atopic, 4 605805 Fd maximum lod at D17S1290 {Dermatitis, atopic, susceptibility to, 4} (2)
17.903 2 1 11 17q25.3 AZI1, ZA1, KIAA1118 P 5-azacytidine-induced gene 1, mouse, homolog of 613479 R, REc
17.904 8 31 17 17q25.3 BAHCC1, BAHD2, KIAA1447 C BAH domain- and coiled-coil domain-containing protein 1 617646 Psh, REc
17.905 8 2 13 17q25.3 B3GNTL1 P Beat-1,3-N-acetylglucosaminyltransferase-like 1 615337 REc
17.906 3 23 14 17q25.3 C17orf70, FAAP100 P Chromosome 17 open reading frame 70 611301 REc
17.907 10 13 17 17q25.3 CANT1, SCAN1, DBQD1, EDM7 P Calcium-activated nucleotidase 1 613165 REc Desbuquois dysplasia 1, 251450 (3); Epiphyseal dysplasia, multiple, 7, 617719 (3)
17.908 12 1 14 17q25.3 CARD14, CARMA2, BIMP2, PSORS2, PSS1, PRP C Caspase recruitment domain-containing protein 14 607211 Fd, REc Psoriasis 2, 602723 (3); Pityriasis rubra pilaris, 173200 (3)
17.909 11 11 14 17q25.3 CBX4, PC2 P Chromobox homolog 4, Drosophila polycomb class 603079 REc
17.910 3 18 17 17q25.3 CBX8, PC3 P Chromobox homolog 8 617354 REc
17.911 3 15 11 17q25.3 CCDC40, KIAA1640 P Coiled-coil domain-containing protein 40 613799 REc Ciliary dyskinesia, primary, 15, 613808 (3)
17.912 10 5 11 17q25.3 CCDC137 P Coiled-coil domain-containing protein 137 614271 REc
17.913 4 17 07 17q25.3 CHMP6 P CHMP family, member 6 610901 R, REc
17.914 4 7 14 17q25.3 DCXR, P34H, PNTSU P Dicarbonyl/L-xylulose reductase 608347 R, REc [Pentosuria], 260800 (3)
17.915 3 11 14 17q25.3 DDX48, EIF4A3, MUK34, NMP265, KIAA0111, RCPS P DEAD/H Box 48 608546 REc Robin sequence with cleft mandible and limb anomalies, 268305 (3)
17.916 6 26 16 17q25.3 ENPP7 C Ectonucleotide pyrophosphatase/phosphodiesterase 7 616997 REc
17.917 8 26 15 17q25.3 FAM195B, MCRIP1 P Family with sequence similarity 194, member B 616514 REc
17.918 8 8 13 17q25.3 FN3K P Fructosamine 3-kinase 608425 REc, A
17.919 6 25 99 17q25.1 GALR2, GALNR2 P Galanin receptor 2 603691 A
17.920 10 7 02 17q25.3 GPR14, UTR2, UTR P G protein-coupled receptor-14 (urotensin II receptor) 600896 A
17.921 2 12 07 17q25.3 GPS1 P G protein pathway suppressor 1 601934 R, REc
17.922 3 10 15 17q25.3 IS5 P Scoliosis, idiopathic, susceptibility to, 5 612239 Fd between D17S1806 and 17qter {Scoliosis, idiopathic, susceptibility to, 5} (2)
17.923 4 19 07 17q25.1 LGICZ1, ZAC, L2 C Ligand-gated ion channel, zinc-activated, 1 610935 REc, REn
17.924 2 25 15 17q25.3 METRNL P Meteorin-like protein 616241 REc
17.925 12 4 08 17q25.2 MGAT5B P Alpha-1,6-mannosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase isozyme B 612441 REc
17.926 7 1 11 17q25.3 MIR338, MIRN338 P Micro RNA 338 614059 REc
17.927 3 18 08 17q25.3 NAGLUEB, FLJ21865 P N-acetylglucosaminidase, endo-beta 611898 R, REc
17.928 1 24 06 17q25.3 NOTUM P Notum, Drosophila, homolog of 609847 REc
17.929 2 25 15 17q25.3 NPB, PPL7 P Neuropeptide B 607996 REc
17.930 6 13 14 17q25.1 OTOP2 P Otopetrin 2 607827 REc, H 11(Otop2)
17.931 6 13 14 17q25.1 OTOP3 P Otopetrin 3 607828 REc, H 11(Otop3)
17.932 12 17 12 17q25.3 PGS1 P Phosphatidylglycerophosphate synthase 1 614942 REc
17.933 1 31 12 17q25.3 PYCR1, PRO3, ARCL2B, ARCL3B P Pyrroline-5-carboxylate reductase-1 179035 REa Cutis laxa, autosomal recessive, type IIB, 612940 (3); Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
17.934 2 1 01 17q25.3 RAC3 C Ras-related C3 botulinum toxin substrate-3 (rho family, small GTP-binding protein Rac3) 602050 Psh, A
17.935 6 26 16 17q25.3 RBFOX3, FOX3, NEUN, HRNBP3 C RNA-binding protein FOX1, C. Elegans, homolog of, 3 616999 REc
17.936 12 2 09 17q25.3 RPTOR, RAPTOR, KIAA1303 P Regulatory-associated protein of MTOR 607130 REc
17.937 2 2 11 17q25.3 SGSH, MPS3A, SFMD C N-sulfoglucosamine sulfohydrolase (sulfamidase) 605270 A Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3) 11(Sgsh)
17.938 8 17 10 17q25.3 SIRT7, SIR2L7 C Sirtuin 7 (Sir2, S. cerevisiae, homolog of, 7) 606212 REc
17.939 3 26 02 17q25.3 SLC25A10, DIC P Solute carrier family 25 (mitochondrial carrier), member 10 (dicarboxylate ion carrier) 606794 A
17.940 2 13 12 17q25.1 SLC25A19, DNC, MUP1, MCPHA, THMD3, THMD4 C Solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 606521 A, Fd, REc Microcephaly, Amish type, 607196 (3); Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
17.941 8 26 15 17q25.3 SLC38A10 P Solute carrier family 38 (amino acid transporter), member 10 616525 REc
17.942 10 8 09 17q25.3 SOCS3, SSI3, CIS3 C Suppressor of cytokine signaling 3 604176 REc
17.943 4 6 13 17q25.3 STRA13, CENPX, FAAP10, MHF2, D9 P Stimulated by retinoic acid 13 615128 REc
17.944 11 15 15 17q25.3 TBC1D16 P TBC1 domain family, member 16 616637 REc
17.945 2 13 14 17q25.3 TEX19 P Testis-expressed gene 19 615647 REc
17.946 1 31 07 17q25.3 TNRC6C, KIAA1582 P Trinucleotide repeat-containing gene 6C 610741 R, REc
17.947 1 27 09 17q25.3 USP36, KIAA1453 P Ubiquitin-specific protease 36 612543 REa, REc
17.948 12 22 16 17q25.3 WDR45B, WIPI3, WDR45L P WD repeat domain 45B 609226 REc
17.949 7 9 06 17q25.3 ZNF750, FLJ13841 C Zinc finger protein 750 610226 REc, Fd Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)
17.950 1 7 02 17q25.3 NPL4, KIAA1499 P Npl4, S. cerevisiae, homolog of 606590 Psh, A
17.951 5 26 98 17q22 AKAP1, AKAP149, SAKAP84 P A-kinase anchor protein 1, 149kD 602449 TM
17.952 4 30 03 17q12 AP1GBP1, SYNG P Adaptor-related protein complex 1 gamma subunit-binding protein 1 607291 R
17.953 11 5 98 17q21.32 ATP5G1 P ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C, isoform 1 603192 REc
17.954 8 29 02 17q12 CCL1, SCYA1 P Chemokine, C-C motif, ligand 1 182281 REa
17.955 5 22 03 17p13.1 CENTB1, KIAA0050, ACAP1 P Centaurin, beta-1 607763 Psh
17.956 11 1 02 17q21.31 CLP1, HIS1 P Cardiac lineage protein 1 607328 R
17.957 12 11 02 17q12 DUSP14, MKP6 P Dual-specificity phosphatase 14 606618 R
17.958 10 7 02 17p11.2 EPN2, KIAA1065 P Epsin 2 607263 R
17.959 10 7 02 17q21.33 EPN3 P Epsin 3 607264 REc
17.960 4 10 90 Chr.17 G6PDL P Glucose-6-phosphate dehydrogenase-like 138110 REa, REb
17.961 12 19 01 17q25.1 GGA3, KIAA0154 P Golgi associated, gamma adaptin ear containing, ARF binding protein 3 606006 R
17.962 6 25 99 17q22 MTMR4 P Myotubularin-related protein 4 603559 R, REc
17.963 12 27 01 17p13.1 NLGN2, KIAA1366 P Neuroligin 2 606479 R
17.964 2 3 03 17p13.1 NUDEL P Nude-like protein (endooligopeptidase A) 607538 R
17.965 3 20 15 Chr.17 ODS1 P Opioid dependence, susceptibility to, 1 610064 Fd {Opioid dependence, susceptibility to, 1} (2)
17.966 6 2 98 17p13.1 PFAS, FGARAT P phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) 602133 REa, A
17.967 3 23 02 17p11.2 TRPV2, VRL1 P Transient receptor potential cation channel, subfamily V, member 2 606676 R
17.968 11 21 02 17q23.1 TUBD1, TUBD P Tubulin, delta-1 607344 REc
18.1 8 26 09 18p11.32 CETN1, CEN1 P Centrin-1 603187 REa, REc
18.2 6 14 94 18pter-p11.21 ERV1 C Oncogene ERV1; endogenous retrovirus-1 131150 REa, A
18.3 3 10 03 18p11.32 COLEC12, SRCL, CLP1 P Collectin 12 607621 REc
18.4 12 15 10 18p11.32 ENOSF1, RTS P Enolase superfamily member 1 607427 REn
18.5 2 27 17 18p11.32 SMCHD1, KIAA0650, BAMS P Structural maintenance of chromosomes flexible hinge domain-containing protein 1 614982 REc Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3); Bosma arhinia microphthalmia syndrome, 603457 (3) 17(Smchd1)
18.6 10 20 92 18p11.32 TYMS, TS, TMS C Thymidylate synthase 188350 S, A <50 kb from YES1
18.7 8 26 09 18p11.32 THOC1, HPR1 P THO complex 1 (nuclear matrix protein p84) 606930 R, REc
18.8 3 14 06 18p11.32-p11.31 DFNB46 P Deafness, neurosensory, autosomal recessive 46 609647 Fd between D18S59 and D18S391 Deafness, autosomal recessive 46 (2)
18.9 11 30 06 18p11.31 ARHGAP28, KIAA1314 P RHO GTPase-activating protein 28 610592 R, REc
18.10 6 19 15 18p11.31 C18orf42 P Chromosome 18 open reading frame 42 616427 REc
18.11 7 14 14 18p11.31 DLGAP1, DAP1, DLGAP1A, DLGAP1B P Discs large-associated protein 1 605445 REc
18.12 9 29 16 18p11.31 L3MBTL4 P L3MBT-like 4 617135 REc
18.13 9 20 14 18p11.31 LAMA1, PTBHS P Laminin, alpha-1 150320 A Poretti-Boltshauser syndrome, 615960 (3) 17(Lama)
18.14 7 20 09 18p11.31 MYL12B, MRLC2 P Myosin, light chain 12B, regulatory 609211 R, REc
18.15 12 4 12 18p11.31 MYOM1, SKELEMIN C Myomesin 1 603508 Psh, A, REc
18.16 11 12 98 18p11.31 MYP2 P Myopia, high grade, autosomal dominant 1 160700 Fd Myopia-2 (2)
18.17 11 16 10 18p11.22 NDUFV2 C NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kD 600532 REa, A pseudogene on 19q13.3-qter Mitochondrial complex I deficiency, 252010 (3)
18.18 6 26 16 18p11.32 CLUL1 P Clusterin-like protein 1 616990 R, REc
18.19 11 13 12 18p11.3 POROK6, DSAP4 P Porokeratosis 6 612353 Fd between telomere and D18S391 Porokeratosis 6, multiple types (2)
18.20 4 3 01 18p11.31 EPB41L3, DAL1 P Erythrocyte membrane protein band 4.1-like 3 605331 REc
18.21 11 18 11 18p11.3 MRT19 P Mental retardation, autosomal recessive 19 614343 Fd between rs4606805 and rs1787846 Mental retardation, autosomal recessive 19 (2)
18.22 3 6 01 18p11.22 RAB31 P Ras-associated protein RAB31 605694 REa, REc
18.23 5 4 10 18p11.31 TGIF1, HPE4 C TG-interacting factor 1 602630 Ch, A Holoprosencephaly 4, 142946 (3)
18.24 4 25 93 18p11.32 YES1 C Oncogene YES-1 164880 REa, REn, A <50 kb from TYMS
18.25 2 12 07 18p11.3-p11.2 AA1 P Alopecia areata 1 104000 Fd max lod at D18S967 Alopecia areata 1 (2)
18.26 7 13 93 18p11.21 PTPN2, PTPT C Protein tyrosine phosphatase, nonreceptor-type, 2 176887 REc, A 18(Ptpt)
18.27 9 27 02 18p11.22 TWSG1, TSG P Twisted gastrulation, Drosophila, homolog of 605049 R 17(Tsg)
18.28 12 18 08 18p11.23 PSORS10 P Psoriasis susceptibility 10 612410 Fd between D18S63 and D18S967 {Psoriasis susceptibility 10} (2)
18.29 6 18 99 18p11.21 RNMT, MET P RNA guanine-7-methyltransferase 603514 A, R
18.30 1 28 05 18p11.23-q12.2 ANIC P Anosmia, isolated congenital 107200 Fd max lod at D18S1108 Anosmia, isolated congenital (2)
18.31 11 30 06 18p11.22 ANKRD12, ANCO1, KIAA0874 P Ankyrin repeat domain-containing protein 12 610616 R, REc
18.32 12 30 14 18p11.22 GACAT2, MTCL1AS1 P Gastric cancer-associated transcript 2, noncoding 616131 REc
18.33 4 29 14 18p11.22 MTCL1, KIAA0802 C Microtubule crosslinking factor 1 615766 REc, R
18.34 4 29 14 18p11.22 NAPG P N-ethylmaleimide-sensitive factor attachment protein, gamma 603216 REc
18.35 10 12 16 18p11.22-p11.21 PIEZO2, FAM38B, DA5, DA3, MWKS, DAIPT P PIEZO-type mechanosensitive ion channel component 2 613629 REc mutation identified in 1 MWKS patient Arthrogryposis, distal, type 5, 108145 (3); Arthrogryposis, distal, type 3, 114300 (3); ?Marden-Walker syndrome, 248700 (3); Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
18.36 8 26 09 18p11.22 PPP4R1, PP4R1 P Protein phosphatase 4, regulatory subunit 1 604908 R, REc
18.37 7 20 15 18p11.22 RAB12 P Ras-associated protein RAB12 616448 REc
18.38 11 29 17 18p11.22 TXNDC2, SPTRX1 C Thioredoxin domain-containing protein 2 617790 REc
18.39 8 26 09 18p11.22 VAPA, VAP33 P Vesicle-associated membrane protein-associated protein A 605703 R, REc
18.40 9 28 15 18p11.21 ANKRD30B P Ankyrin repeat domain-containing protein 30B 616565 REc
18.41 6 19 15 18p11.21 CEP192, PPP1R62, KIAA1569 C Centrosomal protein, 192kD 616426 Psh, REc
18.42 2 14 12 18p11.21 CIDEA P Cell death-inducing DFFA-like effector A 604440 REc
18.43 6 4 13 18p11.21 GNAL, DYT25 C Guanine nucleotide-binding protein, alpha-subunit, olfactory type 139312 REc Dystonia 25, 615073 (3) 18(Gnal)
18.44 9 11 15 18p11.21 PRELID3A, SLMO1, C18orf43 P PRELI domain-containing protein 3A 616545 REc
18.45 10 28 08 18p11.21 PSMG2, TNFSF5IP1, HCCA3, CLAST3, PAC2 P Proteasome (prosome, macropain) assembly chaperone 1 609702 R, REc
18.46 4 14 05 18p11.21 SEH1L, SEH1, SEC13L P Seh1-like protein 609263 REc
18.47 10 25 17 18p11.21 TUBB6, FPVEPD P Tubulin, beta-6 615103 REc mutation identified in 1 FPVEPD family ?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction, 617732 (3)
18.48 6 18 99 18p11.31 ZFP161, ZF5 P Zinc finger protein-161 602126 Psh 17(Zfp161)
18.49 12 19 01 18p11.21 C18orf1 P Chromosome 18 open reading frame 1 606571 REc
18.50 9 30 02 18p11.2 DYX6, DYXQTL18 P Dyslexia, susceptibility to, 6 606616 Fd {Dyslexia, susceptibility to, 6} (2)
18.51 8 9 05 18p11.2 FEB6 P Febrile seizures, familial, 6 609253 Fd max lod at D18S1158 Febrile seizures, familial, 6 (2)
18.52 5 16 01 18p11.21 IMPA2 P Myo-inositol monophosphatase 2 605922 REc
18.53 12 4 02 18p11.21 MC2R C Melanocortin-2 receptor (ACTH receptor) 607397 A, Psh Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3) 18(Mc2r)
18.54 5 17 95 18p11.21 MC5R P Melanocortin-5 receptor 600042 A
18.55 3 20 08 18p11.21 MPPE1 P Metallophosphoesterase 1 611900 REc
18.56 11 4 93 18p11.23 PTPRM, PTPRL1, RPTPM C Protein tyrosine phosphatase, receptor type, mu polypeptide 176888 REa, A
18.57 7 13 93 18p11.32 ADCYAP1 P Adenylate cyclase activating polypeptide-1 (pituitary) 102980 A
18.58 10 27 16 18p11.21 AFG3L2, SCA28, SPAX5 C ATPase family gene 3-like 2 604581 R, Fd Spinocerebellar ataxia 28, 610246 (3); Spastic ataxia 5, autosomal recessive, 614487 (3)
18.59 7 16 14 18p11.22 APCDD1, HHS, HYPT1, HTS P Adenomatosis polyposis coli down-regulated 1 607479 REc Hypotrichosis 1, 605389 (3)
18.60 3 29 07 18p11.21 CHMP1B, C10orf2 P CHMP family, member 1B 606486 REc
18.61 1 16 03 18p11 DYT15 P Dystonia-15, myoclonic 607488 Fd Dystonia-15, myoclonic (2)
18.62 10 28 08 18p11 IBD21 P Inflammatory bowel disease 21 612354 Fd associated with rs2542151 {Inflammatory bowel disease 21} (2)
18.63 8 27 01 18p11.22 RALBP1, RLIP76 P RALA-binding protein 1 605801 A
18.64 1 24 09 18p DEL18p, C18DELp P Chromosome 18p deletion syndrome 146390 Ch Chromosome 18p deletion syndrome (4)
18.65 5 26 98 18p DYT7 P Dystonia-7 (torsion dystonia, adult-onset, focal) 602124 Fd Dystonia-7, torsion (2)
18.66 1 15 09 18p11.31 LPIN2 P Lipin 2 605519 REc Majeed syndrome, 609628 (3) 17(Lpin2)
18.67 5 6 08 18p MAFD1, BPAD, MD1 L Major affective disorder 1 125480 Fd ?also 18q {Major affective disorder 1} (2)
18.68 12 15 98 18p SCZD8 P Schizophrenia susceptibility locus, chromosome 18-related 603206 Fd {Schizophrenia}, 181500 (2)
18.69 10 18 11 18p TET18P P Tetrasomy 18p 614290 Ch Tetrasomy 18p (4)
18.70 2 28 03 18p11.32 USP14, TGT C Ubiquitin-specific protease 14 607274 R, REc 18(Usp14, ax)
18.71 11 16 08 18q DEL18q C Chromosome 18q deletion syndrome 601808 DS Chromosome 18q deletion syndrome (4)
18.72 11 12 98 18q OHDS P Orthostatic hypotensive disorder of Streeten 143850 Fd Orthostatic hypotensive disorder of Streeten (2)
18.73 8 20 99 18q21.1 RPL17 P Ribosomal protein L17 603661 REa, R
18.74 10 26 99 18q12.1 B4GALT6 P Beta-1,4-galactosyltransferase 6 604017 TM
18.75 3 13 03 18q11.2 NPC1, NPC C NPC1 gene 607623 Ch, H, Fd, M some families not linked to 18; type D prob. allelic Niemann-Pick disease, type C1, 257220 (3); Niemann-Pick disease, type D, 257220 (3) 18(spm)
18.76 5 7 03 18q11.2 OSBPL1A, ORP1 P Oxysterol-binding protein-like protein 1A 606730 R, REc
18.77 4 5 11 18q12.3 SLC14A1, JK, UTE, UT1 C Solute carrier family 14 (urea transporter), member 1 (Kidd blood group) 613868 Fd, EM, A previous suggestion of chr.7 or chr.2 [Blood group, Kidd], 111000 (3)
18.78 8 29 08 18q11.2 ABHD3, LABH3 P Abhydrolase domain-containing 3 612197 R, REc
18.79 12 19 17 18q11.1-q11.2 GREB1L, C18orf6, KIAA1772, RHDA3 C GREB1-like protein 617782 Psh, REc Renal hypodysplasia/aplasia 3, 617805 (3)
18.80 1 28 09 18q11.1 ROCK1 P RHO-associated coiled-coil-containing protein kinase 1 601702 R, REc
18.81 2 24 12 18q11.2 GATA6, AVSD5, ASD9, PACHD P GATA-binding protein-6 601656 A Atrioventricular septal defect 5, 614474 (3); Atrial septal defect 9, 614475 (3); Pancreatic agenesis and congenital heart defects, 600001 (3); Persistent truncus arteriosus, 217095 (3); Tetralogy of Fallot, 187500 (3)
18.82 8 11 98 18q12.1 CDH2, NCAD C Cadherin 2 (cadherin, neuronal type; N-cadherin) 114020 REa, A 18(Ncad)
18.83 3 14 15 18q11.2 CHST9, GalNAc4ST2 P Carbohydrate sulfotransferase 9 610191 REc
18.84 12 28 08 18q11.2 ESCO1, ECO1, CTF, ESO1, EFO1, KIAA1911 P Establishment of cohesion 1, S. cerevisiae, homolog of, 1 609674 REc
18.85 5 6 03 18q11.2 HRH4, HH4R C Histamine receptor H4 606792 REc, R
18.86 7 22 13 18q11.2 KCTD1, SENS P Potassium channel tetramerization domain-containing 1 613420 REc Scalp-ear-nipple syndrome, 181270 (3)
18.87 10 15 03 18q11.2 LAMA3, LOCS P Laminin, alpha-3 (nicein, 150kD; kalinin, 165kD; BM600, 150kD; epiligrin) 600805 A Epidermolysis bullosa, junctional, Herlitz type, 226700 (3); Epidermolysis bullosa, generalized atrophic benign, 226650 (3); Laryngoonychocutaneous syndrome, 245660 (3)
18.88 3 1 13 18q11.2 MIB1, MIB, DIP1, KIAA1323, LVNC7 P Mindbomb, Drosophila, homolog of, 1 608677 REc, R Left ventricular noncompaction 7, 615092 (3)
18.89 5 24 13 18q11.2 MIR1-2 P Micro RNA 1-2 610252 REc
18.90 5 24 13 18q11.2 MIR133A1 P Micro RNA 133A1 610254 REc
18.91 8 31 17 18q11.2 PCAT18, LINC01092 P Prostate cancer-associated transcript 18, noncoding 617647 REc
18.92 1 19 18 18q11.2 PSMA8, PSMA7L P Proteasome subunit, alpha-type, 8 617841 REc
18.93 2 21 12 18q11.2 RBBP8, RIM, SCKL2, JWDS P Retinoblastoma-binding protein 8 604124 A Pancreatic carcinoma, somatic (3); Seckel syndrome 2, 606744 (3); Jawad syndrome, 251255 (3)
18.94 10 31 17 18q11.2 RIOK3, SUDD P RIO kinase 3 603579 A, REc, Psh
18.95 8 18 14 18q11.2 SNRPD1 P Small nuclear ribonucleoprotein polypeptide D1 601063 REc
18.96 6 26 01 18q11.2 SS18, SSXT, SYT C Synovial sarcoma translocation, chromosome 18 600192 Ch, RE 5' SYST/3' SSRC in t(X;18) Sarcoma, synovial (1)
18.97 7 7 14 18q11.2 TAF4B, TAF2C2, TAFII105, SPGF13 P TAF4b RNA polymerase II, TATA box-binding protein-associated factor, 105kD 601689 R, REc mutation identified in 1 SPGF13 family ?Spermatogenic failure 13, 615841 (3)
18.98 11 1 13 18q11.2 TMEM241, C18orf45 P Transmembrane protein 241 615430 REc
18.99 5 22 07 18q11.2 ZNF521, EHZF, EVI3 P Zinc finger protein 521 610974 REc
18.100 12 13 96 18q11.2 AQP4, MIWC P Aquaporin-4 600308 A, Psh 18(Aqp4)
18.101 7 23 13 18q11.2 IMPACT P Impact RWD domain protein 615319 REc, H 18(Impact)
18.102 2 26 10 18q12.1 TTR, PALB C Transthyretin (prealbumin) 176300 REa, A Amyloidosis, hereditary, transthyretin-related, 105210 (3); [Dystransthyretinemic hyperthyroxinemia], 145680 (3); Carpal tunnel syndrome, familial, 115430 (3) 18(Palb)
18.103 5 23 11 18q11.2-q12.2 APMR3 P Alopecia-mental retardation syndrome 3 613930 Fd between D18S866 and D18S811 Alopecia-mental retardation syndrome 3 (2)
18.104 8 2 13 18q12.2 CELF4, BRUNOL4 P CUGbp- and ELAV-like family, member 4 612679 REc
18.105 7 16 14 18q12.1 DSG4, LAH, HYPT6 P Desmoglein 4 607892 REn Hypotrichosis 6, 607903 (3)
18.106 1 8 16 18q12.1-q12.2 MAPRE2, EB2, RP1, CSCSC2 C Microtubule-associated protein, RP/EB family, member 2 605789 R, A Symmetric circumferential skin creases, congenital, 2, 616734 (3)
18.107 7 18 12 18q12.2 RPRD1A, P15RS, FLJ10656 P Regulation of nuclear pre-mRNA domain-containing protein 1A 610347 REc
18.108 10 1 90 18q12.2 ZNF24 P Zinc finger protein-24 (KOX17) 194534 REa, A
18.109 10 4 05 18q12.2 ZNF396 P Zinc finger protein-396 609600 REc
18.110 10 4 05 18q12.2 ZNF397 P Zinc finger protein-397 609601 REc
18.111 5 1 02 18q12.2 ZNFEB, ZNF271 P Epstein-Barr virus-induced zinc finger protein 604754 REc
18.112 10 12 14 18q21.1 ATP5A1, ATPM, ATP5A, ORM, MC5DN4, COXPD22 C ATP synthase, H+ transporting (ATPase, mitochondrial) 164360 S, REa, A pseudogenes on chr. 2, chr. 9, and chr.16; mutation identified in 1 MC5DN4 family and 1 COXPD22 family ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3); ?Combined oxidative phosphorylation deficiency 22, 616045 (3)
18.113 10 13 09 18q21.1 LOXHD1, DFNB77 P Lipoxygenase homology domains-containing 1 613072 REc Deafness, autosomal recessive 77, 613079 (3)
18.114 5 29 97 18q21.1-q21.2 MAPK4, PRKM4, ERK3 P Mitogen-activated protein kinase 4 176949 REa, A
18.115 3 4 05 18q21.1 DYM, FLJ90130, DMC, SMC C Dymeclin 607461 REc, Fd Dyggve-Melchior-Clausen disease, 223800 (3); Smith-McCort dysplasia, 607326 (3)
18.116 11 10 13 18q12.1 ASXL3, KIAA1713, BRPS P Additional sex combs-like 3 615115 REc Bainbridge-Ropers syndrome, 615485 (3)
18.117 8 25 09 18q12.1 DSC1 P Desmocollin-1 125643 REa, REc
18.118 6 4 12 18q12.1 DSC2, DSC3, ARVD11 C Desmocollin-2 125645 REa, Psh, H, REn, A Arrhythmogenic right ventricular dysplasia 11, 610476 (3); Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3) 18(Dsc2)
18.119 10 04 14 18q12.1 DSC3, DSC4 C Desmocollin-3 600271 A, Psh mutation identified in 1 HYPTSV family ?Hypotrichosis and recurrent skin vesicles, 613102 (3)
18.120 2 12 99 18q12.2 GALNT1 C UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 602273 A
18.121 2 24 11 18q12.1 KLHL14, PRINTOR, KIAA1384 P Kelch-like 14 613772 REc
18.122 5 22 14 18q12.1 NOL4, NOLP P Nucleolar protein 4 603577 REc
18.123 3 12 15 18q12.1 RNF125, TRAC1, TNORS P RING finger protein 125 610432 REc Tenorio syndrome, 616260 (3)
18.124 4 22 15 18q12.1 RNF138, NARF P RING finger protein 138 616319 REc
18.125 12 30 14 18q12.1 SLC25A52, MCART2 P Solute carrier family 25, member 52 616153 REc
18.126 9 8 11 18q12.1 TRAPPC8, KIAA1012 P Trafficking protein particle complex, subunit 8 614136 R, REc
18.127 11 22 13 18q12.1 DSG1, PPKS1, SPPK1, EPKHE C Desmoglein-1 125670 REa, A, REn pemphigus foliaceous antigen Keratosis palmoplantaris striata I, AD, 148700 (3); Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3) 18(Dsg1)
18.128 7 17 09 18q12.1 DSG2, ARVD10, ARVC10, CMD1BB C Desmoglein-2 125671 Psh, REn Arrhythmogenic right ventricular dysplasia 10, 610193 (3); Cardiomyopathy, dilated, 1BB, 612877 (3)
18.129 5 26 94 18q12.1 DSG3 C Desmoglein-3 (pemphigus vulgaris antigen) 169615 Psh, A, REn 18(Dsg3)
18.130 6 16 10 18q12.1 DTNA, D18S892E, DRP3, LVNC1 P Dystobrevin, alpha (dystrophin-related protein 3) 601239 A Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3)
18.131 9 22 98 18q12.3 SLC14A2, UT2, UTR P Solute carrier family 14 (urea transporter), member 2 601611 A
18.132 8 18 08 18q11.2 CABYR, FSP2 P Calcium-binding tyrosine phosphorylation-regulated protein 612135 REc 18(Cabyr)
18.133 12 22 16 18q12.2 ELP2, STATIP1, MRT58 P Elongator acetyltransferase complex, subunit 2 616054 REc Mental retardation, autosomal recessive 58, 617270 (3)
18.134 12 28 08 18q12.2 FHOD3, FHOS2, KIAA1695 P Formin homology-2 domain-containing protein 3 609691 REc
18.135 7 28 15 18q12.2 KIAA1328, HINDERIN P Hinderin 616480 REc
18.136 3 31 09 18q12.2 MIR187, MIRN187 P Micro RNA 187 612698 REc
18.137 7 27 16 18q12.2 MOCOS, MCS, XAN2 P Molybdenum cofactor sulfurase 613274 REc Xanthinuria, type II, 603592 (3)
18.138 3 27 95 18q12.1 MEP1B P Meprin A, beta 600389 REa 8(Mep1b)
18.139 9 28 00 18q12.2-q12.3 OPA4 P Optic atrophy 4 605293 Fd Optic atrophy 4 (2)
18.140 9 27 17 18q12.3 PIK3C3 P Phosphatidylinositol 3-kinase, class 3 602609 REc
18.141 10 4 12 18q12.3 RIT2, RIN, ROC2 P Ric-like protein without CAAX motif 2 609592 REc, R
18.142 6 2 16 18q12.3 SETBP1, KIAA0437, SEB, MRD29 C SET-binding protein 1 611060 R, A, ch fused with NUP98 in ALL Schinzel-Giedion midface retraction syndrome, 269150 (3); Mental retardation, autosomal dominant 29, 616078 (3)
18.143 2 14 01 18q12.3 SYT4 P Synaptotagmin-4 600103 A 18(Syt4)
18.144 11 3 11 18q12.3 VUR6 P Vesicoureteral reflux 6 614319 Fd closest marker rs1054986 Vesicoureteral reflux 6 (2)
18.145 3 1 13 18q12.3-q21.1 EPG5, KIAA1632, HEEW1, VICIS C Ectopic P-granules autophagy protein 5, C. elegans, homolog of 615068 REc, Psh Vici syndrome, 242840 (3)
18.146 12 7 12 18q21.31 ATP8B1, FIC1, BRIC, PFIC1, ICP1 P ATPase, class I, type 8B, member 1 602397 Fd, LD Cholestasis, progressive familial intrahepatic 1, 211600 (3); Cholestasis, benign recurrent intrahepatic, 243300 (3); Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
18.147 12 2 05 18q21 ALS3 P Amyotrophic lateral sclerosis 3 606640 Fd Amyotrophic lateral sclerosis 3 (2)
18.148 10 10 14 18q21.2 C18orf54, LAS2 P Chromosome 18 open reading frame 54 613258 REc 18(C18orf54)
18.149 9 16 03 18q21.2 ELAC1, D29 P Elac, E. coli, homolog of, 1 608079 REc
18.150 10 23 87 18q21.32 GRP C Gastrin-releasing peptide 137260 REa, A mammalian equivalent of bombesin 18(Grp)
18.151 12 9 98 18q21 IDDM6 P Insulin-dependent diabetes mellitus-6 601941 Fd, LD {Diabetes mellitus, insulin-dependent, 6} (2)
18.152 8 24 98 18q21.1 MADH2, JV18, SMAD2 P Mothers against decapentaplegic, Drosophila, homolog of, 2 601366 REn
18.153 4 30 14 18q21.32 MALT1, MLT, IMD12 P Mucosa-associated lymphoid tissue lymphoma translocation gene 1 604860 Ch fused with API2 in MALT lymphoma Immunodeficiency 12, 615468 (3)
18.154 2 3 14 18q21.2 MBD2 P Methyl-CpG-binding domain protein 2 603547 Psh, A 18(Mbd2)
18.155 3 20 15 18q21.2 ME2 C Malic enzyme, mitochondrial 154270 REc 10cM distal to F13A; previously mapped to chr.6 7(Mod2)
18.156 3 23 09 18q21.31 MIR122A, MIRN122A P Micro RNA 122A 609582 REc
18.157 8 27 08 18q21.2 MRO, B29 P Maestro 608080 REc
18.158 1 24 09 18q21.1 MYO5B, KIAA1119 C Myosin VB 606540 REc, H Microvillus inclusion disease, 251850 (3) 18(Myo5b)
18.159 11 22 16 18q21.31 NEDD4L, KIAA0439, RSP5, PVNH7 C Ubiquitin protein ligase NEDD4-like 606384 R Periventricular nodular heterotopia 7, 617201 (3)
18.160 4 25 93 18q21 SSAV1 C Simian sarcoma-associated virus-1/Gibbon ape leukemia virus 182090 REa, A
18.161 9 10 07 18q22.1 DSEL, C18orf4, NCAG1 P Dermatan sulfate epimerase-like 611125 REc
18.162 6 28 02 18q21.2 STARD6 P Start domain-containing protein 6 607051 REc
18.163 10 13 15 18q21.1 ZBTB7C, APM1 P Zinc finger- and BTB domain-containing protein 7C 616591 A
18.164 7 19 12 18q21.1 ACAA2 P Acetyl-CoA acyltransferase 2 604770 REc
18.165 8 31 12 18q21.1 CCDC11, HTX6 P Coiled-coil domain-containing protein 11 614759 REc Heterotaxy, visceral, 6, autosomal recessive, 614779 (3)
18.166 6 1 10 18q21.1 HAUS1, CCDC5, HEIC P HAUS augmin-like complex, subunit 1 608775 REc pseudogenes on 5, 8, and X
18.167 6 2 16 18q21.1 IER3IP1, MEDS P Immediate-early response 3-interacting protein 1 609382 REc Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)
18.168 7 6 12 18q21.1 KATNAL2 P Katanin, p60 subunit, A-like protein 2 614697 REc
18.169 12 21 09 18q21.1 KIAA0427, CTIF P KIAA0427 gene 613178 R
18.170 12 17 07 18q21.1 LIPG, EL, EDL P Lipase G, endothelial 603684 REc
18.171 7 6 99 18q21.1 MBD1, PCM1 P Methyl=CpG binding domain protein 1 (protein containing methyl-CpG binding domain 1) 156535 R 18(Mbd1)
18.172 10 24 00 18q21.2 POLI, RAD30B P Polymerase, DNA, iota 605252 REc, A 18(Rad30b)
18.173 10 12 14 18q21.1 PSTPIP2, MAYP P Proline/serine/threonine phosphatase-interacting protein 2 616046 REc
18.174 2 25 14 18q21.1 SCARNA17 P Small Cajal body-specific RNA 17 615645 REc
18.175 8 26 09 18q21.1 SIAT8E P Sialyltransferase 8E 607162 R, REc
18.176 12 2 15 18q21.1 SKA1, C18orf24 P Spindle- and kinetochore-associated complex, subunit 1 616673 REc
18.177 10 11 16 18q21.1 SKOR2, FUSSEL18, CORL2 C SKI family transcriptional corepressor 2 617138 REc
18.178 7 25 16 18q21.2 SMAD4, MADH4, DPC4, JIP, MYHRS C Mothers against decapentaplegic, Drosophila, homolog of, 4 600993 D, R Pancreatic cancer, somatic, 260350 (3); Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3); Myhre syndrome, 139210 (3); Polyposis, juvenile intestinal, 174900 (3)
18.179 8 20 08 18q21.1 SMAD7, MADH7, CRCS3 C Mothers against decapentaplegic, Drosophila, homolog of, 7 602932 REa, A {Colorectal cancer, susceptibility to, 3}, 612229 (3)
18.180 4 30 15 18q22.2 SOCS6, SSI4, STAT4, CIS4 P Suppressor of cytokine signaling 6 605118 R, REc
18.181 5 25 00 18q21.31 ONECUT2, OC2 P One cut domain, family member 2 604894 R
18.182 7 13 95 18q21.1-q21.3 CORD1, CRD1 P Cone rod dystrophy 1, autosomal dominant 600624 Ch Cone-rod retinal dystrophy-1 (2)
18.183 8 26 09 18q21.31 NARS, ASNRS P Asparaginyl-tRNA synthetase 108410 REa, S, REc
18.184 4 21 16 18q21.2 CCDC68 P Coiled-coil domain-containing protein 68 616909 REc
18.185 12 4 08 18q21.2 HYT8 P Hypertension, essential, susceptibility to, 8 611014 Fd associated with rs1941958 and rs1893379 {Hypertension, essential, susceptibility to, 8} (2)
18.186 4 17 13 18q21.31 LINC-ROR P Long intergenic noncoding RNA, regulator of reprogramming 615173 REc
18.187 12 4 08 18q21.2 MEX3C, RKHD2 P Mex-3, C. elegans, homolog of, C 611005 REc
18.188 7 29 15 18q21.2 TCF4, SEF2, ITF2, PTHS, FECD3 C Transcription factor-4 (immunoglobulin transcription factor-2) 602272 Fd, R, Ch Pitt-Hopkins syndrome, 610954 (3); Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
18.189 10 10 05 18q21.33 BCL2 C B-cell CLL/lymphoma-2 151430 Ch, RE, REn most frequent hematologic malignancy t(14;18)(q32;q21) Leukemia/lymphoma, B-cell, 2 (3) 1(Bcl2)
18.190 5 27 97 18q21.3 CNSN P Carnosinemia (carnosinase) 212200 Ch Carnosinemia (2)
18.191 7 6 17 18q21.2 DCC, MRMV1, HGPPS2 C Deleted in colorectal carcinoma 120470 D, RE Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3); Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3); Colorectal cancer, somatic, 114500 (3); Esophageal carcinoma, somatic, 133239 (3) 18(Dcc)
18.192 8 26 11 18q21.31 FECH, FCE C Ferrochelatase 612386 A, REb Protoporphyria, erythropoietic, autosomal recessive, 177000 (3)
18.193 6 13 17 18q21.33 KDSR, FVT1, EKVP4 P 3-ketodihydrosphingosine reductase 136440 RE ~10kb 5' to BCL2 Erythrokeratodermia variabilis et progressiva 4, 617526 (3)
18.194 6 25 08 18q22.1 HMSD P Minor histocompatibility antigen, serpin domain-containing 612086 REc
18.195 5 17 95 18q21.33 PI5, SERPINB5 P Protease inhibitor 5 (maspin) 154790 REn, Psh in cluster of serpins
18.196 9 16 16 18q22.1 SERPINB8, PI8, CAP2, PSS5 P Serpin family B, member 8 601697 Psh, REn Peeling skin syndrome 5, 617115 (3)
18.197 3 14 08 18q21.32 RAX, RX, MCOP3 C Retina and anterior neural fold homeobox gene 601881 REc Microphthalmia, isolated 3, 611038 (3)
18.198 6 7 10 18q21.3-q22.1 SERPINB2, PAI2, PLANH2 C Serpin peptidase inhibitor, clade B (ovalbumin), member 2 (Plasminogen activator inhibitor, type II (arginine-serpin)) 173390 REa, A, REn 600kb telomeric to BCL2
18.199 3 23 14 18q21.33 SERPINB11 P Serpin peptidase inhibitor, clade B (ovalbumin), member 11 615682 REc, H 1(Serpinb11)
18.200 2 25 14 18q21.33 SERPINB12 P Serpin peptidase inhibitor, clade (ovalbumin), member 12 615662 REc
18.201 11 27 00 18q21.33 SERPINB13, PI13, HURPIN P Protease inhibitor 13 604445 REc
18.202 4 11 11 18q21.33 SERPINB3, SCCA1 C Serpin peptidase inhibitor, clade B (ovalbumin), member 3 (squamous cell carcinoma antigen 1) 600517 REn, Psh, A
18.203 3 21 02 18q21.33 SERPINB4, SCCA2 P Serpin peptidase inhibitor, clade B (ovalbumin), member 4 (squamous cell carcinoma antigen 2) 600518 REn
18.204 1 7 14 18q21.33 SERPINB7, MEGSIN, PPKN P Serpin peptidase inhibitor, clade B (ovalbumin), member 7 603357 REc Palmoplantar keratoderma, Nagashima type, 615598 (3)
18.205 11 5 97 18q22.1 SERPINB10, PI10 P Protease inhibitor 10, ovalbumin type (bomapin) 602058 Psh, REn
18.206 3 24 06 18q21.33 VPS4B, SKD1 C Vacuolar protein sorting 4, yeast, homolog of, B 609983 R, A, REc, H 1(Vps4b)
18.207 9 29 10 18q21.31 WDR7, TRAG, KIAA0541 C WD repeat-containing protein 7 613473 R, A, H, REc 18(Wdr7)
18.208 6 16 98 18q21.32 LMAN1, ERGIC53, F5F8D, MCFD1 C Lectin, mannose-binding, 1 601567 A, Fd Combined factor V and VIII deficiency, 227300 (3)
18.209 7 20 12 18q21.31 TXNL1, TXNL P Thioredoxin-like 1 603049 REc
18.210 9 30 14 18q21.32 CCBE1, KIAA1983, HKLLS1 P Collagen and calcium-binding EGF domain-containing protein 1 612753 REc Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)
18.211 3 31 15 18q21.32 PMAIP1, APR, NOXA P Phorbol-12-myristate-13-acetate-induced protein 1 604959 REc
18.212 3 8 12 18q21.33 PHLPP1, SCOP, KIAA0606 P PH domain and leucine-rich repeat protein phosphatase 609396 REc
18.213 7 22 11 18q21.33 PIGN, MCAHS1 P Phosphatidylinositol glycan, class N 606097 R, REc Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
18.214 8 26 15 18q21.33 RNF152 P Ring finger protein 152 616512 REc
18.215 1 20 09 18q22 DUP18pDEL18q, DUP18qDEL18p P Chromosome 18 pericentric inversion 609334 Ch Chromosome 18 pericentric inversion (4)
18.216 11 19 98 18q21.32 MC4R C Melanocortin-4 receptor 155541 A, R Obesity, autosomal dominant, 601665 (3)
18.217 4 1 01 18q22.1 CDH7 P Cadherin-7 605806 Psh, A
18.218 4 2 01 18q22.1 CDH19, CDH7 P Cadherin 19 603016 Psh, A
18.219 4 2 01 18q21.33 CDH20 P Cadherin 20 605807 Psh, A
18.220 7 23 03 18q22.3 NETO1, BCTL1 P Neuropilin and tolloid like 1 607973 REc
18.221 1 8 01 18q23 ZNF236 P Zinc finger protein-236 604760 REa, A
18.222 10 23 87 18q23 MBP C Myelin basic protein 159430 REa, A defective in "shiverer," neurologic mutant in mouse 18(Mbp, shi)
18.223 5 25 17 18q22.1 LINC00305 P Long intergenic noncoding RNA 305 617489 REc
18.224 11 24 14 18q22.1 TMX3, TXNDC10, KIAA1830 P Thioredoxin-related transmembrane protein 3 616102 REc
18.225 6 30 15 18q21.33 TNFRSF11A, RANK, ODFR, FEO, OPTB7, PDB2 C Tumor necrosis factor receptor superfamily, member 11A 603499 R, RE, Fd Osteolysis, familial expansile, 174810 (3); {Paget disease of bone 2, early-onset}, 602080 (3); Osteopetrosis, autosomal recessive 7, 612301 (3)
18.226 11 14 12 18q22.1-q22.3 ECTD8 P Ectodermal dysplasia 8, hair/tooth/nail type 602401 Fd between D18S857 and D18S815 Ectodermal dysplasia 8, hair/tooth/nail type (2)
18.227 3 29 16 18q22.2 RTTN, MSSP P Rotatin 610436 REc Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3) 18(Rttn)
18.228 1 30 12 18q23 ATP9B P ATPase, class II, type 9B 614446 REc
18.229 1 24 13 18q22.3 CBLN2 P Cerebellin 2 precursor 600433 H, REc 18(Cbln1)
18.230 5 18 10 18q22.3 CNDP1, CN1 P Carnosine dipeptidase 1 609064 R, REc
18.231 1 31 01 18q22.2 DNAM1, CD226 P DNAX accessory molecule 1 605397 A
18.232 4 2 12 18q22.3 FAM69C P Family with sequence similarity 69, member C 614544 REc
18.233 9 9 08 18q22.3 FBXO15, FBX15 P F-box only protein 15 609093 REc 18(Fbxo15)
18.234 4 17 13 18q22.3 TIMM21, TIM21 P Translocase of inner mitochondrial membrane 21, yeast, homolog of 615180 REc
18.235 1 30 12 18q22.3 TSHZ1, TSH1, CAA P Teashirt zinc finger homeobox 1 614427 REc, Ch Aural atresia, congenital, 607842 (3)
18.236 7 17 14 18q22.3 ZNF407 P Zinc finger protein 407 615894 REc
18.237 4 20 17 18q23 ADNP2, KIAA0863 P Activity-dependent neuroprotector homeobox 2 617422 REc
18.238 5 31 05 18q23 CTDP1, FCP1, CCFDN P C-terminal domain of RNA polymerase II subunit A, phosphatase of, subunit 1 604927 Fd, REc Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
18.239 11 23 12 18q22.3 CYB5A, MCB5 C Cytochrome b5 613218 Psh, REa, A pseudogenes on X, 14q, 20p; mutation identified in 1 MET5 patient ?Methemoglobinemia, type IV, 250790 (3)
18.240 12 18 98 18q23 GALR1, GALNR1, GALNR C Galanin receptor 1 600377 A, H, REc 18(Galnr)
18.241 5 17 95 18q23 NFATC1 P Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 1 600489 REa, R 18(Nfatc)
18.242 11 2 04 18q23 PARD6G P partitioning-defective protein 6, C. elegans, homolog of 608976 R, REc
18.243 10 23 87 18q22.3 PEPA C Peptidase A 169800 S, D 18(Pep1)
18.244 7 22 09 18q23 SALL3 P Sal-like 3 605079 A
18.245 1 8 15 18q23 TXNL4A, DIM1, BMKS P Thioredoxin-like 4A 611595 R, REc Burn-McKeown syndrome, 608572 (3)
18.246 3 15 13 18q23 ZNF516, KIAA0222 C Zinc finger protein 516 615114 REc, R
19.1 9 20 11 19pter-p13.1 FPH1, MUH, HPP P Hyperpigmentation, familial progressive, 1 614233 Fd Hyperpigmentation, familial progressive, 1 (2)
19.2 10 23 87 19pter-q13 CXB3S P Coxsackie virus B3 sensitivity 120050 S
19.3 11 1 13 19p13.3 EEF2, EF2, SCA26 C Eukaryotic translation elongation factor-2 130610 S mutation identified in 1 family ?Spinocerebellar ataxia 26, 609306 (3)
19.4 4 27 16 19p13.3 ABCA7, ABCX, AD9 P ATP-binding cassette, subfamily A, member 7 605414 REc {Alzheimer disease 9, susceptibility to}, 608907 (3)
19.5 12 15 10 19p13.3 ACER1 P Alkaline ceraminidase 1 613491 REc
19.6 12 6 11 19p13.3 ACSBG2, BGR P Acyl-CoA synthetase, bubblegum family, member 2 614363 REc
19.7 8 1 13 19p13.3 ADAT3, TAD3, MRT36 P Adenosine deaminase, tRNA-specific, 3 615302 REc Mental retardation, autosomal recessive 36, 615286 (3)
19.8 2 12 16 19p13.3-p13.2 ADGRE1, EMR1 P Adhesion G protein-coupled receptor E1 600493 REa, A 17(Emr1)
19.9 2 12 16 19p13.2 ADGRE4P, EMR4, GPR127, EMR4P, FIRE P Adhesion G protein-coupled receptor E4, pseudogene 612305 REc
19.10 6 30 15 19p13.12 ADGRL1, LPHN1, CIRL1, CL1, LEC2, KIAA0821 P Adhesion G protein-coupled receptor L1 616416 R, REc
19.11 8 9 99 19p13.3 AES C Amino-terminal enhancer of split 600188 REa, A
19.12 3 16 10 19p13.3 ALKBH7, ABH7 P AlkB, E. coli, homolog of, 7 613305 REc
19.13 7 10 14 19p13.2 ANGPTL4, PGAR, HFARP, FIAF, TGQTL P Angiopoietin-like 4 605910 R Plasma triglyceride level QTL, low, 615881 (3)
19.14 7 26 16 19p13.3 AP3D1, HPS10 P Adaptor-related protein complex 3, delta-1 subunit 607246 REc, H mutation identified in 1 HPS10 patient ?Hermansky-Pudlak syndrome 10, 617050 (3) 10(Ap3d1)
19.15 5 25 13 19p13.3 APBA3, X11L2, MINT3 P Amyloid beta A4 precursor protein-binding, family A, member 3 604262 REc
19.16 10 25 16 19p13.3 APC2, APCL, SOTOS3 C APC2 gene 612034 A, H mutation identified in 1 SOTOS3 family ?Sotos syndrome 3, 617169 (3) 10(Apc2)
19.17 11 22 10 19p13.3 DENND1C P DENN/MADD domain-containing protein 1C 613634 REc
19.18 9 3 02 19p13.3 IS1, AIS P Adolescent idiopathic scoliosis 181800 Fd Scoliosis, idiopathic 1 (2)
19.19 10 26 03 19p13.3 ATCAY, CLAC, KIAA1872 C Caytaxin 608179 REc, Fd, H Ataxia, cerebellar, Cayman type, 601238 (3) 10(ji)
19.20 7 17 14 19p13.3 ATP5D P ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit 603150 REc
19.21 5 2 01 19p13.3 ATP8B3, ATPIK P ATPase, class I, type 8B, member 3 605866 REc
19.22 10 26 92 19p13.3 AZU1, CAP37 P Azurocidin-1 (cationic antimicrobial protein-37) 162815 A, REn 5\(rm-AZU1-8kb-PR3-3kb-ELAN-3'
19.23 3 13 01 19p13.3 BSG P Basigin (blood group OK) 109480 A [Blood group, OK], 111380 (3) 10(Bsg)
19.24 4 21 10 19p13.3 C2CD4C, NLF3, KIAA1957 P C2 calcium-dependent domain containing 4C 610336 REc
19.25 11 20 03 19p13.3 C19orf10, SF20, IL25 P Stroma-derived growth factor 20 606746 REc 17(Il25)
19.26 11 23 15 19p13.3 C19orf70, MIC13, QIL1 P Chromosome 19 open reading frame 70 616658 REc
19.27 3 8 91 19p13.3 CAPS P Calcyphosine 114212 A
19.28 5 24 17 19p13.3 CATSPERD, TMEM146 P Cation channel, sperm-associated, auxiliary subunit delta 617490 REc
19.29 12 5 11 19p13.2 CD209, CDSIGN C CD209 antigen 604672 R {Dengue fever, protection against}, 614371 (3); {HIV type 1, susceptibility to}, 609423 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
19.30 6 14 94 19p13.3 CDC34 P Cell division cycle 34 116948 A
19.31 4 26 11 19p13.3 CFD, ADN C Complement factor D 134350 REc Complement factor D deficiency, 613912 (3)
19.32 9 26 17 19p13.3 CHAF1A, CAF1B, CAF1P150 P Chromatin assembly factor I, subunit A 601246 REc
19.33 5 28 98 19p13.3 CIRBP P Cold-inducible RNA-binding protein 602649 A
19.34 3 13 15 19p13.2 CLEC4G, LSECTIN P C-type lectin domain family 4, member G 616256 REc
19.35 2 28 06 19p13.2 CLEC4M, CD209L, LSIGN, DCSIGNR P C-type lectin domain family 4, member M 605872 R SARS infection, protection against (2)
19.36 12 15 14 19p13.3 CLPP, PRLTS3, DFNB81 C ATP-dependent protease ClpAP, E. coli, proteolytic subunit, homolog of 601119 REa, REc, Fd Perrault syndrome 3, 614129 (3)
19.37 2 1 11 19p13.3 CNN2 P Calonin 2 602373 REc previously assigned to 21q11.1
19.38 11 28 05 19p13.3 CRB3 P Crumbs, Drosophila, homolog of, 3 609737 R, REc
19.39 4 23 08 19p13.3 CREB3L3, CREBH P cAMP responsive element-binding protein 3-like 3 611998 REc
19.40 5 28 98 19p13.3 CSNK1G2 P Casein kinase 1, gamma-2 602214 Psh, A
19.41 3 31 15 19p13.3 DIRAS1, RIG P DIRAS family, GTP-binding Ras-like protein 1 607862 REc
19.42 5 26 13 19p13.3 DOHH, HLRC1 P Deoxyhypusine hydroxylase 611262 REc
19.43 11 22 02 19p13.3 DOT1L, DOT1, KIAA1814 C Dot1, yeast, homolog of 607375 R, REc
19.44 11 10 98 19p13.3 DRIL1 P Dead ringer, Drosophila, homolog-like 1 603265 A, REc
19.45 8 27 01 19p13.3 EBI3 P Epstein-Barr virus-induced gene 3 605816 A
19.46 2 28 03 19p13.3 EFNA2, EPLG6, LERK6 C Ephrin A2 602756 Psh, A
19.47 6 7 11 19p13.3 ELANE, ELA2, SCN1 C Elastase, neutrophil-expressed 130130 A, Fd, REc Neutropenia, cyclic, 162800 (3); Neutropenia, severe congenital 1, autosomal dominant, 202700 (3) 10(Ela2)
19.48 4 25 93 19p13.2 FCER2, FCE2, CD23, CLEC4J C Fc fragment of IgE, low affinity II, receptor for (CD23A) 151445 REa, A
19.49 1 5 00 19p13.3 FEB2 P Febrile seizures, familial, 2 602477 Fd Febrile seizures, familial, 2 (2)
19.50 8 27 15 19p13.3 FEM1A P Fem1, C. elegans, homolog of, A 613538 REc 17(Fem1a)
19.51 4 26 01 19p13.3 FGF22 P Fibroblast growth factor 22 605831 REc
19.52 3 18 07 19p13.3 FSD1, GLFND C Fibronectin type 3 and SPRY domains-containing protein 1 609828 REc
19.53 9 17 03 19p13.3 FUT3, LE C Fucosyltransferase 3 111100 F, Psh, REn, Fd cen-FUT5-23kb-FUT3-14kb-FUT6-ter [Blood group, Lewis] (3)
19.54 5 17 95 19p13.3 FUT5 P Fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 136835 A, REn cen-FUT5-FUT3-FUT6-ter
19.55 3 31 11 19p13.3 FUT6 P Fucosyltransferase 6 (alpha (1,3) fucosyltransferase) 136836 Psh, REn in cluster with FUT3, FUT5 Fucosyltransferase 6 deficiency, 613852 (3)
19.56 5 25 00 19p13.3 GADD45B, MYD118 P Growth arrest- and DNA damage-inducible gene 45, beta 604948 R
19.57 7 18 13 19p13.3 GAMT, CCDS2 P Guanidinoacetate methyltransferase 601240 Psh, R Cerebral creatine deficiency syndrome 2, 612736 (3) 10(Gamt)
19.58 7 26 11 19p13.3 GIPC3, DFNB15, DFNB72, DFNB95 P GAIP C-terminus-interacting protein 3 608792 REc Deafness, autosomal recessive 15, 601869 (3)
19.59 1 11 16 19p13.3 GPX4, SMDS C Glutathione peroxidase-4 (phospholipid hydroperoxidase) 138322 REa, A Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
19.60 11 22 94 19p13.3 GTF2F1, RAP74 P General transcription factor IIF, polypeptide 1 (74kD subunit) 189968 A
19.61 6 9 95 19p13.3 GZMM P Granzyme M (lymphocyte met-ase 1) 600311 H 10(Gzmm)
19.62 3 30 99 19p13.3 HCDH, FZR P CDH1/HCT1, S. cerevisiae, homolog of 603619 REc
19.63 8 9 00 19p13.3 HCN2, BCNG2 P Hyperpolarization-activated cyclic nucleotide-gated potassium channel 2 602781 REc
19.64 3 5 18 19p13.3 HDGFL2, HDGFRP2 P Hepatoma-derived growth factor-like protein 2 617884 REc
19.65 3 23 09 19p13.3 HMHA1, HLA-HA1, KIAA0223 C Minor histocompatibility antigen HA-1 601155 R, REc
19.66 1 8 01 19p13.3 HMG20B, BRAF35 P High mobility group protein 20B 605535 REc
19.67 11 3 06 19q13.32 IGFL1 P IGF-like family member 1 610544 REc 7(Igfl1)
19.68 11 3 06 19q13.32 IGFL2 P IGF-like family member 2 610545 REc 7(Igfl2)
19.69 11 3 06 19q13.32 IGFL3 P IGF-like family member 3 610546 REc 7(Igfl3)
19.70 11 3 06 19q13.32 IGFL4 P IGF-like family member 4 610547 REc 7(Igfl4)
19.71 7 20 12 19p13.3 KDM4B, JMJD2B, KIAA0876 C Lysine-specific demethylase 4B 609765 R, REc
19.72 7 19 12 19p13.3 JSRP1, JP45 P Junctional sarcoplasmic reticulum protein 1 608743 REc
19.73 4 20 06 19p13.3 KHSRP, KSRP, FUBP2, FBP2 P KH-type splicing regulatory protein 603445 R, H 17(Khsrp)
19.74 8 24 09 19p13.3 KIR2DL5A, KIR2DL5 P Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A 605305 REc
19.75 8 1 13 19p13.3 KISS1R, GPR54, HH8, CPPB1 C KISS1 receptor 604161 REc, Fd mutation identified in 1 CPPB1 patient Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3); ?Precocious puberty, central, 1, 176400 (3)
19.76 12 6 16 19p13.3 KLF16, BTEB4, DRRF P Kruppel-like factor 16 606139 REc, H 10(Klf16)
19.77 9 24 15 19p13.3 LMNB2, LMN2, EPM9 P Lamin B2 150341 A mutation identified in 1 EPM9 family {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3); ?Epilepsy, progressive myoclonic, 9, 616540 (3)
19.78 12 10 13 19p13.3 LRG1, LRG P Leucine-rich alpha-2-glycoprotein 1 611289 REc 11(Lrg1)
19.79 12 23 05 19p13.3 LRRN6B, LINGO3, LERN2 P Leucine-rich repeat protein, neuronal, 6B 609792 R, REc
19.80 8 24 09 19p13.3 LSM7 P LSM7 protein 607287 R, REc
19.81 9 21 11 19p13.2 ICAM4, CD242, LW C Intracellular adhesion molecule 4 614088 F, Fd, A, REc close to C3, LU [Blood group, Landsteiner-Wiener], 111250 (3)
19.82 3 3 98 19p13.3 MACAM1 C Mucosal addressin cell adhesion molecule-1 102670 Psh, A
19.83 6 20 13 19p13.3 MAP2K2, PRKMK2, MEK2, MKK2, CFC4 P Mitogen-activated protein kinase kinase 2 601263 A, REc previously assigned to 7q32 Cardiofaciocutaneous syndrome 4, 615280 (3) 10(Mek2)
19.84 7 1 98 19p13.3 MATK, HYL, CTK P Megakaryocyte-associated tyrosine kinase 600038 A, REa, H 10(Matk)
19.85 7 8 99 19p13.3 MBD3 P Methyl-CpG-binding domain protein 3 603573 REc 10(Mbd3)
19.86 6 19 97 19p13.3 MDRV P Muscular dystrophy with rimmed vacuoles 601846 Fd Muscular dystrophy with rimmed vacuoles (2)
19.87 2 25 15 19p13.2 MCEMP1 P Mast cell-expressed membrane protein 1 609565 REc
19.88 8 20 07 19p13.3 MEX3D, RKHD1, TINO, KIAA2031 P Mex-3, C. elegans, homolog of, D 611009 REc
19.89 10 26 17 19p13.3 MFSD12, PP3501 P Major facilitator superfamily domain-containing protein 12 617745 REc
19.90 8 24 09 19p13.3 MIDN P Midnolin, mouse, homolog of 606700 REc
19.91 5 11 09 19p13.12 MIR181C, MIRN181C P Micro RNA 181C 612746 REc
19.92 5 6 13 19p13.3 MIR1909 P Micro RNA 1909 615201 REc
19.93 6 26 13 19p13.3 MISP, C19orf21 P Mitotic spindle-positioning protein 615289 REc
19.94 5 28 02 19p13.3 MKNK2, MNK2, GPRK7 P Mitogen-activated protein kinase-interacting serine/threonine kinase-2 605069 REc
19.95 1 12 95 19p13.3 MLLT1, ENL C Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 1 159556 Ch fuses with ALL1
19.96 3 11 08 19p13.3 MRPL54 P Mitochondrial ribosomal protein L54 611858 R, REc
19.97 4 30 09 19p13.3 NDUFA11 P NADH-dehydrogenase 1 alpha subcomplex, 11 612638 REc Mitochondrial complex I deficiency, 252010 (3)
19.98 10 15 95 19p13.3 NFIC P Nuclear factor I/C (CCAAT-binding transcription factor) 600729 A order: cen-NFIX-NFIC-tel 10(Nfic)
19.99 9 2 12 19p13.13 NFIX, NF1A, SOTOS2, MRSHSS C Nuclear factor I/X (CCAAT-binding transcription factor) 164005 A Sotos syndrome 2, 614753 (3); Marshall-Smith syndrome, 602535 (3) 8(Nfix)
19.100 1 2 08 19p13.3 NRTN, NTN P Neurturin 602018 A 17(Nrtn)
19.101 8 28 97 19p13.3 OAZ1 P Ornithine decarboxylase antizyme 1 601579 A
19.102 11 11 14 19p13.3 PALM, KIAA0270 P Paralemmin 608134 R, H, REc 10(Palm)
19.103 8 24 09 19p13.3 PCSK4 P Proprotein convertase subtilisin/kexin type 4 600487 REa, REc 10(Pcsk4)
19.104 2 27 03 19p13.2 PEX11G P Peroxisome biogenesis factor 11G 607583 REc
19.105 2 9 16 19p13.3 PIAS4, PIASY P Protein inhibitor of activated STAT4 605989 REc
19.106 8 23 07 19p13.3 PIP5K1C, LCCS3 P Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 606102 R, Lethal congenital contractural syndrome 3, 611369 (3)
19.107 1 16 18 19p13.3 PLEKHJ1, GNRPX C Pleckstrin homology domain-containing protein, family J, member 1 617834 REc, H 10(Plekhj1)
19.108 1 21 10 19p13.3 PLIN3, M6PRBP1, TIP47 P Perilipin 3 602702 REc
19.109 3 3 10 19p13.3 PLIN4, KIAA1881 P Perilipin 4 613247 R, REc
19.110 3 3 10 19p13.3 PLIN5, LSDP5 P Perilipin 5 613248 REc 17(Plin5)
19.111 10 26 17 19p13.3 PLPP2, PPAP2C P Phospholipid phosphatase 2 607126 REc
19.112 1 9 17 19p13.3 PLPPR3, LPPR3, LPR3, PRG2 P Phospholipid phosphatase-related protein 3 610391 REc
19.113 3 19 15 19p13.2 PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS C Patatin-like phospholipase domain-containing protein 6 603197 REc, A, Fd mutation identified in 1 LMNS family Spastic paraplegia 39, autosomal recessive, 612020 (3); Boucher-Neuhauser syndrome, 215470 (3); ?Laurence-Moon syndrome, 245800 (3); Oliver-McFarlane syndrome, 275400 (3) 8(Nte)
19.114 5 27 94 19p13.3 POLR2E P Polymerase (RNA) II (DNA directed) polypeptide E, 25kD 180664 A
19.115 8 3 97 19p13.3 POLRMT, APOLMT P Polymerase (RNA) mitochondrial (DNA directed) 601778 Psh
19.116 1 24 93 19p13.3 PRTN3, AGP7 C Proteinase-3 (serine proteinase, neutrophil, Wegener granulomatosis autoantigen) 177020 A, REn, Psh 10(Prtn3)
19.117 7 24 13 19p13.3 ONECUT3, OC3 P One cut homeobox 3 611294 REc, R 10(Onecut3)
19.118 7 8 99 19p13.3 PSPN P Persephin 602921 Psh, R
19.119 1 28 01 19p13.3 PTBP1, PTB, HNRNPI P Polypyrimidine tract-binding protein 1 600693 REc pseudogene on chr. 14
19.120 8 28 97 19p13.3 PTPRS P Protein tyrosine phosphatase, receptor type, sigma 601576 A, REc 17(Ptprs)
19.121 12 15 98 19p13.3 RANBP3 P RAN-binding protein-3 603327 REc
19.122 10 23 15 19p13.3 RAX2, RAXL1, QRX, CORD11, ARMD6 C Retina and anterior neural fold homeobox 2 610362 R mutation identified in 1 ARMD6 patient ?Macular degeneration, age-related, 6, 613757 (3); Cone-rod dystrophy 11, 610381 (3)
19.123 1 20 17 19p13.3 REEP6, DP1L1, TB2L1, C19orf32, RP77 P Receptor expression-enhancing protein 6 609346 R, REc, H Retinitis pigmentosa 77, 617304 (3) 10(Dp1L1)
19.124 10 4 05 19p13.3 REXO1, REX1, ELOABP1, TCEB3BP1 P RNA exonuclease 1, S. cerevisiae, homolog of 609614 R, REc
19.125 4 18 02 19p13.12 RLN3, H3, RXN3 P Relaxin 3 606855 REc 8(Rln3)
19.126 4 17 13 19p13.3 RNF126 P RING finger protein 126 615177 REc
19.127 3 1 18 19p13.3 RPL36 P Ribosomal protein L36 617893 REc
19.128 9 18 08 19p13.3 S1PR4, EDG6, S1P4 P Sphingosine-1-phosphate receptor 4 603751 Psh
19.129 8 29 03 19p13.3 SAFB2, KIAA0138 P Scaffold attachment factor B2 608066 REc
19.130 4 29 14 19p13.3 SBNO2, KIAA0963 P Strawberry notch, Drosophila, homolog of, 2 615729 R, REc
19.131 9 16 12 19p13.3 SEMA6B P Semaphorin 6B 608873 REc
19.132 3 24 11 19p13.3 SCAMP4 P Secretory carrier membrane protein 4 613764 REc
19.133 7 7 13 19p13.3 SHC2, SHCB, SCK P SHC transforming protein 2 605217 REc
19.134 2 25 15 19p13.3 SHD P SH2 domain-containing protein D 610481 REc, R
19.135 3 1 01 19p13.3 SH3GL1, EEN C SH3 domain GRB2-like 1 (Extra 11-19 leukemia fusion gene) 601768 A, R, REa Leukemia, acute myeloid, 601626 (1)
19.136 8 30 01 19p13.3 SIRT6, SIR2L6 P Sirtuin 6 (Sir2, S. cerevisiae, homolog of, 6) 606211 REc
19.137 3 12 07 19p13.3 SLC25A41 P Solute carrier family 25, member 41 610822 REc 17(Slc25a41)
19.138 10 13 09 19p13.3 SLC39A3, ZIP3 P Solute carrier family 39, zinc transporter, member 3 612168 R, REc
19.139 3 22 07 19p13.3 SNPPL2B, IMP4, KIAA1532 P Signal peptide peptidase-like 2B 608239 R, REc
19.140 3 31 15 19p13.3 STAP2, BKS P Signal-transducing adaptor protein 2 607881 REc
19.141 4 12 13 19p13.3 STK11, PJS, LKB1 C Serine/threonine protein kinase-11 602216 Fd, D, REc Peutz-Jeghers syndrome, 175200 (3); Melanoma, malignant, somatic (3); Pancreatic cancer, 260350 (3); Testicular tumor, somatic, 273300 (3) 10(Stk11)
19.142 9 15 11 19p13.3 TBXA2R, BDPLT13 C Thromboxane A2 receptor 188070 Psh, Fd, A, H {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3) 10(Tbxa2r)
19.143 5 11 16 19p13.3 TCF3, E2A, AGM8 C Transcription factor-3 (E2A immunoglobulin enhancer-binding factors E12/E47) 147141 REa, A Agammaglobulinemia 8, autosomal dominant, 616941 (3)
19.144 2 25 15 19p13.3 THEG P Testicular haploid expressed gene, mouse, homolog of 609503 REc
19.145 12 11 98 19p13.3 THOP1 C Thimet oligopeptidase-1 601117 REa, A, REc
19.146 3 14 18 19p13.3 TICAM1, TRIF, IIAE6 P TIR domain-containing adaptor molecule 1 607601 REc {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
19.147 12 4 02 19p13.3 TIMM13 C Translocase of inner mitochondrial membrane 13, yeast, homolog of 607383 R
19.148 5 23 13 19p13.3 TINCR P Terminal differentiation-induced noncoding RNA 615241 REc 17(Tincr)
19.149 3 31 09 19p13.3 TJP3, ZO3 P Tight junction protein 3 612689 REc
19.150 2 11 96 19p13.3 TLE2, ESG2 P Transducin-like enhancer of split 2 (homolog of Drosophila E(spl)) 601041 A
19.151 2 12 16 19p13.3 TLE6, GRG6, PREMBL P Transducin-like enhancer of split 6 612399 REc Preimplantation embryonic lethality, 616814 (3)
19.152 11 16 17 19p13.3 TMEM259, C19orf6 P Transmembrane protein 259 (membralin) 611011 REc 10(Orf61)
19.153 7 13 12 19p13.3 TMIGD2, IGPR1 P Transmembrane and immunoglobulin domains-containing protein 2 ` 614715 REc
19.154 2 25 15 19p13.3 TMPRSS9 P Transmembrane protease, serine 9 610477 REc, H 10(Tmprss9)
19.155 8 30 01 19p13.3 TNFSF9 P Tumor necrosis factor ligand superfamily, member 9 606182 A
19.156 1 18 02 19p13.3 TNFSF14, HVEML P Tumor necrosis factor ligand superfamily, member 14 604520 REc, A
19.157 4 6 15 19p13.3 TRIP10, CIP4 P Thyroid hormone receptor interactor 10 604504 R
19.158 12 17 07 19p13.13 TRMT1, TRM1 P tRNA methyltransferase 1, S. cerevisiae, homolog of 611669 REc
19.159 7 22 13 19p13.3 TRNAG3 P Transfer RNA glycine 3 615303 REc
19.160 7 22 13 19p13.3 TRNAV32 P Transfer RNA valine 32 615304 REc
19.161 10 30 14 19p13.3 TUBB4A, DYT4, HLD6 P Tubulin, beta-4A 602662 REc Dystonia 4, torsion, autosomal dominant, 128101 (3); Leukodystrophy, hypomyelinating, 6, 612438 (3)
19.162 10 27 08 19p13.3 UHRF1, ICBP90, NP95 P Ubiquitin-like protein containing PHD and RING finger domains 1 607990 A
19.163 10 9 09 19p13.11 UNC13A, KIAA1032 P UNC13, C. elegans, homolog of, A 609894 R, REc
19.164 11 15 05 19p13.3 UQCR P Ubiquinol-cytochrome c reductase, 6.4kD subunit 609711 R, REc
19.165 11 23 16 19p13.3 VMAC P Vimentin-type intermediate filament-associated coiled-coil protein 617204 REc
19.166 8 1 13 19p13.3 ZBTB7A, FBI1, LRF P Zinc finger and BTB domain containing 7A 605878 A
19.167 6 10 08 19p13.3 ZNRF4, SPERIZIN P Zinc finger and ring finger protein 4 612063 Psh, H 17(Znrf4)
19.168 11 2 04 19p13.2 ADAMTS10, WMS1 C A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 10 608990 Fd, REc Weill-Marchesani syndrome 1, recessive, 277600 (3)
19.169 12 13 95 19p13.3 AMH, MIF P Anti-Mullerian hormone 600957 REa, A Persistent Mullerian duct syndrome, type I, 261550 (3) 10(Amh)
19.170 3 15 92 19p13.3-p13.2 ATHS, ALP P Atherosclerosis susceptibility (lipoprotein associated) 108725 Fd closely linked to LDLR; may be LDLR {Atherosclerosis, susceptibility to} (2)
19.171 3 10 11 19p13.3 C3, ARMD9, AHUS5 C Complement component-3 120700 F, S, A, REa LE ~7cM in males vs. C3 RFLP C3 deficiency, 613779 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3); {Macular degeneration, age-related, 9}, 611378 (3) 17(C3)
19.172 7 2 13 19p13.2 DNMT1, MCMT, HSN1E, ADCADN C DNA methyltransferase 1 126375 REa, A Neuropathy, hereditary sensory, type IE, 614116 (3); Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
19.173 3 23 93 19p13.2 EPOR C Erythropoietin receptor 133171 A, REa, H, Fd [Erythrocytosis, familial, 1], 133100 (3) 9(Epor)
19.174 4 5 00 19p13.2 ICAM1 C Intercellular adhesion molecule-1 147840 REa, H, A close to Ldlr in mouse {Malaria, cerebral, susceptibility to}, 611162 (3) 9(Icam1)
19.175 6 13 95 19p13.2 ICAM3, CDW50 P Intercellular adhesion molecule-3 146631 A, Psh
19.176 9 7 00 19p13.2 MCOLN1, ML4 C Mucolipin 1 605248 Fd, REn Mucolipidosis IV, 252650 (3)
19.177 11 12 96 19p13.2 MYO1F P Myosin IF 601480 A 17(Myo1f)
19.178 5 15 00 19p13.2 HNRPM, HNRPM4, NAGR1 P Heterogeneous nuclear ribonucleoprotein M 160994 A
19.179 8 21 92 19p13.3 RFX2 P Regulatory factor (trans-acting) 2 (influences HLA class II expression) 142765 A
19.180 8 24 98 19p13.3 SAFB, HET P Scaffold attachment factor B 602895 REa, A
19.181 3 29 00 19p13.3 SF3A2, SAP62, PRP11 P Splicing factor 3a, subunit 2, 66kD 600796 REn 10(Sap62)
19.182 5 4 12 19p13.2 STXBP2, UNC18B, FHL5 P Syntaxin binding protein 2 601717 A Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) 8(Stxbp2)
19.183 7 6 00 19p13.2 TIMM44 P Translocase of inner mitochondrial membrane 44, yeast, homolog of 605058 A
19.184 8 24 98 19p13.3 VAV1, VAV C Oncogene VAV1 164875 REa, A, RE close to INSR
19.185 9 28 96 19p13.11 ZNF14, KOX6 P Zinc finger protein-14 (KOX 6) 194556 REc, A
19.186 9 28 96 19p13.2 ZNF20, KOX13 P Zinc finger protein-14 (KOX 6) 194557 REc, A
19.187 6 11 11 19p13.2 ACP5, SPENCDI C Acid phosphatase 5, tartrate resistant 171640 REa, H, Psh incorrectly assigned to 15 by A Spondyloenchondrodysplasia with immune dysregulation, 607944 (3) 9(Acp5)
19.188 7 1 05 19p13.2 ANGPTL6, AGF P Angiopoietin-like 6 609336 REc
19.189 2 20 15 19p13.2 ANGPTL8, C19orf80, LIPASIN P Angiopoietin-like protein 8 616223 REc within intron of DOCK6 9(C19orf80)
19.190 2 28 03 19p13.2 AP1M2, MU1B C Adaptor-related protein complex 1, mu-2 subunit 607309 A, H 9(Ap1m2)
19.191 4 7 17 19p13.2 ARHGEF18, KIAA0521, RP78 P Rho guanine nucleotide exchange factor 18 616432 R, REc Retinitis pigmentosa 78, 617433 (3)
19.192 3 23 14 19p13.2 ATG4D, APG4D, AUTL4 P Autophagy 4, S. cerevisiae, homolog of, D 611340 REc
19.193 6 8 95 19p13.11 BST2 P Bone marrow stromal cell antigen 600534 A
19.194 2 12 16 19p13.2 C19orf66, RYDEN P Chromosome 19 open reading frame 66 616808 REc
19.195 2 10 14 19p13.13 CALR, SSA P Sicca syndrome antigen A (autoantigen Ro; calreticulin) 109091 REa distal to C3, near LDLR Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3) 8(Calr)
19.196 11 27 17 19p13.2 CAMSAP3, NEZHA, KIAA1543 P Calmodulin-regulated spectrin-associated protein 3 612685 REc
19.197 7 7 13 19p13.2 CARM1, PRMT4 P Coactivator-associated arginine methyltransferase 1 603934 REc
19.198 8 2 13 19p13.2 CERS4, LASS4, TRH1 P Ceramide synthase 4 615334 REc
19.199 10 9 14 19p13.2 CCDC151, CILD30 P Coiled-coil domain-containing protein 151 615956 REc Ciliary dyskinesia, primary, 30, 616037 (3)
19.200 8 29 02 19p13.2 CCL25, SCYA25, TECK C Chemokine, C-C motif, ligand 25 602565 Psh, R, A 8(Teck)
19.201 1 20 17 19p13.2 CD320, 8D6, 8D6A, TCBLR P CD320 molecule 606475 R, REc Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3) 17(Cd320)
19.202 11 11 14 19p13.2 CDC37 P Cell division cycle 37, S. cerevisiae, homolog of 605065 REc
19.203 3 16 99 19p13.2 CNN1, SMCC C Calponin 1 600806 A, R, Psh 9(Cnn1)
19.204 8 9 01 19p13.2 COL5A3 P Collagen, type V, alpha-3 polypeptide 120216 R 9(Col5a3)
19.205 9 22 08 19p13.2 CTXN1, CTXN P Cortexin 1 600135 REc 8(Ctxn)
19.206 9 30 99 19p13.12 CYP4F3, LTB4H P Cytochrome P450, subfamily IVF, polypeptide 3 601270 A
19.207 3 12 01 19p13.12 DNAJB1, HSPF1 P DnaJ, E. coli, homolog of, subfamily B, member 1 (heat-shock 40kD protein 1) 604572 A
19.208 11 7 17 19p13.2 DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5 C Dynamin-2 602378 H, REc, Fd 1 LCCS5 family identified with mutation Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3); Centronuclear myopathy 1, 160150 (3); Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3); Lethal congenital contracture syndrome 5, 615368 (3) 9(Dnm2)
19.209 9 12 11 19p13.2 DOCK6, KIAA1395, AOS2 P Dedicator of cytokinesis 6 614194 REc, R Adams-Oliver syndrome 2, 614219 (3)
19.210 10 3 07 19p13.2 EIF3G, EIF3S4 P Eukaryotic translation initiation factor 3, subunit G 603913 REc
19.211 2 8 99 19p13.2 ELAVL1, HUR P Embryonic lethal, abnormal vision, Drosophila, homolog-like 1 603466 A
19.212 7 8 99 19p13.2 ELAVL3, HUC, PLE21 P Embryonic lethal, abnormal vision, Drosophila, homolog-like 3 603458 A, H, R centromeric to ELAVL1 9(HuC)
19.213 6 13 12 19p13.2 FBXL12, FBL12 P F-box and leucine-rich repeat protein 12 609079 REc, REa 9(Fbxl12)
19.214 6 13 12 19p13.13 FBXW9, FBW9 P F-box and WD40 domain protein 9 609074 REc 9(Fbxw9)
19.215 4 27 12 19p13.2 FDX1L, FDX2 P Ferredoxin 1-like protein 614585 REc
19.216 8 25 04 19p13.13 GCDH C Glutaryl-Coenzyme A dehydrogenase 608801 REa, A Glutaricaciduria, type I, 231670 (3) 8(Gcdh)
19.217 3 14 13 19p13.13 MRI1, MRDI P Methylthioribose-1-phosphate isomerase, S. cerevisiae, homolog of 615105 REc
19.218 4 10 14 19p13.2 PET100, C19orf79 P PET100, S. cerevisiae, homolog of 614770 REc Mitochondrial complex IV deficiency, 220110 (3)
19.219 10 2 12 19p13.13 PRDX2, PRX2, TDPX1, PTX1, NKEFB P Peroxiredoxin 2 600538 REc prev. mapped to chr.13
19.220 7 8 02 19p13.2 RAD3D, GOV P Ras family, member RAB3D 604350 A
19.221 5 25 00 19p13.2 ICAM5, TLCN, TLN C Intercellular adhesion molecule 5 (telencephalin) 601852 A
19.222 9 14 12 19p13.11 INSL3 P Insulin-like 3, Leydig cell 146738 A Cryptorchidism, 219050 (3)
19.223 12 29 06 19p13.2 INSR, HHF5 C Insulin receptor 147670 REa, A, REb 1 gene for alpha and beta subunits Leprechaunism, 246200 (3); Rabson-Mendenhall syndrome, 262190 (3); Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3); Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3) 8(Insr)
19.224 4 25 93 19p13.13 JUNB C jun B proto-oncogene 165161 A 8(Junb)
19.225 11 27 17 19p13.2 KANK2, ANKRD25, KIAA1518, PPKWH, NPHS16 P KN motif- and ankyrin repeat domain-containing protein 2 614610 REc Palmoplantar keratoderma and woolly hair, 616099 (3); Nephrotic syndrome 16, 617783 (3)
19.226 5 4 12 19p13.2 KANK3 P KN motif- and ankyrin repeat domain-containing protein 3 614611 REc
19.227 1 16 07 19p13.2 KEAP1, KIAA0132 P Kelch-like ECH-associated protein 1 606016 REa, REc
19.228 2 24 12 19p13.2 LDLR, FHC, FH, LDLCQ2 C Low density lipoprotein receptor 606945 F, REa, A ~20cM distal to C3 Hypercholesterolemia, familial, 143890 (3); LDL cholesterol level QTL2, 143890 (3) 9(Ldlr)
19.229 2 13 15 19p13.3 LONP1, PRSS15, LON, CODASS P lon peptidase 1, mitochondrial 605490 A CODAS syndrome, 600373 (3)
19.230 7 22 09 19p13.2 LRRC8E P Leucine-rich repeat-containing protein 8E 612891 REc 8(Lrrc8e)
19.231 6 26 14 19p13.2 MAP2K7, PRKMK7, MKK7, JNKK2, MAPKK7 P Mitogen-activated protein kinase kinase 7 603014 REc
19.232 6 7 10 19p13.2 MARCH2 P Membrane-associated RING-CH finger protein 2 613332 REc
19.233 9 24 08 19p13.13 MAST1, SAST, KIAA0973 P Microtubule-associated serine/threonine kinase 1 612256 R, REc
19.234 2 25 15 19p13.2 MBD3L1 P Methyl-CpG binding domain protein 3-like 1 607963 R, REc 9(Mbd3l1)
19.235 2 25 15 19p13.2 MBD3L2 P Methyl-CpG binding domain protein 3-like 2 607964 R, REc 9(Mbd3l2)
19.236 3 23 09 19p13.2 MIR199A1, MIRN199A1 P Micro RNA 199A1 610719 REc
19.237 2 26 08 19p13.2 MRPL4 P Mitochondrial ribosomal protein L4 611823 R
19.238 8 3 12 19p13.2 MUC16, CA125 P Mucin 16 606154 REc
19.239 12 3 98 19p13.2 NDUFA7 C NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a) 602139 R previously assigned to 20p13
19.240 9 12 11 19p13.2 NRCLP6 P Narcolepsy 6 614223 Fd associated with rs2305795 Narcolepsy 6 (2)
19.241 5 30 17 19p13.2 OLFM2, NOE2 P Olfactomedin 2 617492 REc
19.242 8 20 08 19p13.2 OR7D4, OR19B P Olfactory receptor, family 7, subfamily D, member 4 611538 REc
19.243 4 20 11 19p13.2 PCOS1, PCO1, PCO P Polycystic ovary syndrome 1 184700 Fd max lod at D19S884 Polycystic ovary syndrome 1 (2)
19.244 8 21 98 19p13.2 PDE4A, DPDE2 C Phosphodiesterase-4A, cAMP-specific (dunce, Drosophila, homolog phosphodiesterase E2) 600126 REa, A, REc 9(Pde4a)
19.245 5 25 00 19p13.11 PGLS P 6-phosphogluconolactonase 604951 R
19.246 3 25 03 19p13.11 PLVAP, PV1 P Plasmalemma vesicle-associated protein 607647 REc, R, H 8(Plvap)
19.247 10 4 05 19p13.2 QTRT1, TGT P Queuine tRNA-ribosyltransferase 1 609615 REc
19.248 12 15 17 19p13.2 RAB11B, NDAGSCW P Ras-associated protein RAB11B 604198 REc Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3)
19.249 1 12 95 19p13.13 RAD23A, HHR23A P RAD23, S. cerevisiae, homolog of, A 600061 A 8(Rad23a)
19.250 3 14 06 19p13.2 RAVER1, KIAA1978 P Raver1, mouse, homolog of 609950 R, REc
19.251 9 22 04 19p13.2 RETN, RSTN, FIZZ3 C Resistin 605565 REc {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3); {Hypertension, insulin resistance-related, susceptibility to}, 125853 (3)
19.252 1 11 16 19p13.2 RGL3 P Ral guanine nucleotide dissociation stimulator-like 3 616743 REc
19.253 3 29 15 19p13.2 RPS28, DBA15 P Ribosomal protein S28 603685 REa, R Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 (3)
19.254 3 16 16 19p13.2 S1PR2, EDG5, DFNB68 P Sphingosine-1-phosphate receptor 2 605111 REc, Fd Deafness, autosomal recessive 68, 610419 (3)
19.255 9 18 08 19p13.2 S1PR5, EDG8 P Sphingosine-1-phosphate receptor 5 605146 REc
19.256 1 27 04 19p13.2 SITPEC, ECSIT P Signaling intermediate in toll pathway, evolutionarily conserved 608388 R, REc
19.257 4 29 16 19p13.2 SMARCA4, BRG1, RTPS2, MRD16, CSS4 P SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 603254 REc {Rhabdoid tumor predisposition syndrome 2}, 613325 (3); Coffin-Siris syndrome 4, 614609 (3)
19.258 10 2 12 19p13.2 SNAPC2, SNAP45 P Small nuclear RNA-activating protein complex, polypeptide 2 605076 REc
19.259 7 14 14 19p13.2 SPC24, SPBC24 P SPC24, NDC80 kinetochore complex component 609394 REc
19.260 3 31 15 19p13.13 STX10, SYN10 P Syntaxin 10 603765 REc
19.261 3 30 12 19p13.2 SWSAP1, ZSWIM7AP1, C19orf39 P SWIM-type zinc finger domain-containing protein 7-associated protein 1 614536 REc
19.262 3 29 99 19p13.2 TCO P Thyroid carcinoma, nonmedullary, with cell oxyphilia 603386 Fd Thyroid carcinoma, nonmedullary, with cell oxyphilia (2)
19.263 3 18 17 19p13.2 TIMM29, C19orf52 P Translocase of inner mitochondrial membrane 29 617380 REc
19.264 5 23 06 19p13.2 TMED1, IL1RL1LG P Transmembrane p24 trafficking protein 1 (interleukin-1 receptor-like 1 ligand) 605395 A
19.265 2 24 11 19p13.2 TMEM205 P Transmembrane protein 205 613771 REc
19.266 9 12 14 19p13.2 TYK2, IMD35 C Tyrosine kinase 2 176941 REa, A Immunodeficiency 35, 611521 (3)
19.267 4 16 02 19p13.2 UBL5, HUB1 P Ubiquitin-like 5 606849 REc pseudogene on 17p11.2
19.268 3 15 07 19p13.2 XAB2 P XPA-binding protein 2 610850 REc
19.269 6 12 17 19p13.2 YIPF2 P YIP1 domain family, member 2 617522 REc
19.270 2 20 02 19p13.2 ZK1 P Zinc finger protein ZK1 606697 A, R
19.271 1 13 11 19p13.2 ZNF44, KOX7 P Zinc finger protein-44 (KOX7) 194542 REc previously assigned to 16p11
19.272 1 13 11 19p13.2 ZNF69 P Zinc finger protein-69 (Cos5) 194543 REc previously assigned to 22q11.2
19.273 8 24 09 19p13.2 ZNF266, HZF1 P Zinc finger protein-266 604751 R, REc
19.274 9 24 08 19p13.2 ZNF627 P Zinc finger protein 627 612248 REc
19.275 4 2 16 19p13.2 ZNF653, ZIP67 P Zinc finger protein 653 611371 REc
19.276 9 20 14 19p13.2 ZNF699, FLJ38144 P Zinc finger protein 699 609571 REc
19.277 12 16 11 19p13.2 ZGLP1, GLP1 P Zinc finger GATA-like protein 1 611639 REc
19.278 6 13 12 19p13.13 DAND5, CER2, CERL2, DANTE, COCO P DAN domain family, member 5 609068 REc 8(Crl2)
19.279 3 2 11 19p13.11 UPF1, RENT1, HUPF1 P Upf1, yeast, homolog of 601430 REa 9(Rent1)
19.280 9 8 06 19p13.13 BEST2, VMD2L1 P Bestrophin 2 607335 A
19.281 6 19 00 19p13.2 ZNF136 P Zinc finger protein-136 604078 A
19.282 8 25 04 19p13.11 GDF15, PLAB, PDF, MIC1 P Growth/differentiation factor-15 (bone morphogenetic protein, placental) 605312 A
19.283 4 25 93 19p13.13 LYL1 C Lymphoblastic leukemia derived sequence-1 151440 Ch, A Leukemia, T-cell acute lymphoblastoid (2) 8(Lyl1)
19.284 6 9 08 19p13.11 NDUFA13, GRIM19 P NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 13 609435 A {Thyroid carcinoma, Hurthle cell}, 607464 (3)
19.285 2 3 16 19p13.12 NOTCH3, CADASIL1, CASIL, IMF2, LMNS C Notch, Drosophila, homolog of, 3 600276 REa, A, Fd mutation identified in 1 IMF2 family Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3); ?Myofibromatosis, infantile 2, 615293 (3); Lateral meningocele syndrome, 130720 (3) 17(Notch3)
19.286 2 28 03 19p13.2-p13.1 PAPA3 P Polydactyly, postaxial, type A3 607324 Fd between D19S1165 and D19S929 Polydactyly, postaxial, type A3 (2)
19.287 7 22 16 19p13.2 PRKCSH, G19P1, PCLD1 C Protein kinase C substrate 80K-H 177060 REb, Fd Polycystic liver disease 1, 174050 (3)
19.288 11 26 09 19p13.11 LRRC25, MAPA P Leucine rich repeat containing 25 607518 REc, R
19.289 9 29 09 19p13.11 SLC5A5, NIS, TDH1 P Solute carrier family 5 (sodium iodide symporter), member-5 601843 A Thyroid dyshormonogenesis 1, 274400 (3)
19.290 3 14 06 19p13.11 RAB8A, MEL C Ras-associated protein RAB8A (oncogene MEL) 165040 REa, Fd
19.291 10 27 93 19p13.2-q13.3 LPSA, D19S381E P Oncogene liposarcoma (DNA segment, single copy, expressed, probes MC15, MC6) 164953 A Liposarcoma (1)
19.292 5 29 97 19p13.13 DNASE2, DNL P Deoxyribonuclease II, lysosomal 126350 S
19.293 2 3 05 19p13.12 ASF1B P Anti-silencing function 1, S. cerevisiae, homolog of, B 609190 REc
19.294 11 17 10 19p13.13 DEL19p13.13, C19DELp13.13, DUP19p13.13, C19DUPp13.13 P Chromosome 19p13.13 deletion syndrome (Chromosome 19p13.13 duplication syndrome) 613638 Ch contiguous gene syndrome Chromosome 19p13.13 deletion syndrome (4); Chromosome 19p13.13 duplication syndrome (4)
19.295 6 15 15 19p13.13 GADD45GIP1, PRG6, CRIF1 P Growth arrest- and DNA damage-inducible DABB45G-interacting protein 605162 R, REc
19.296 7 7 09 19p13.13 HOOK2, HK2 P Hook, Drosophila, homolog of, 2 607824 REc
19.297 8 24 09 19p13.12 MIR23A, MIRN23A P Micro RNA 23a 607962 REc
19.298 3 28 17 19p13.13 NACC1, BTBD14B, NECFM P Nucleus accumbens-associated protein 1, BEN and BTB/POZ domains-containing 610672 R, REc Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (3)
19.299 9 16 13 19p13.12 NANOS3, NOS3 P Nanos, Drosophila, homolog of, 3 608229 REc
19.300 10 15 07 19p13.13 RNASEH2A, RNHIA, AGS4 C Ribonuclease H2, large subunit 606034 R, REc Aicardi-Goutieres syndrome 4, 610333 (3)
19.301 5 27 09 19p13.13 SYCE2, CESC1 P Synaptonemal complex central element protein 2 611487 REc
19.302 4 19 06 19p13.13 TNPO2, TRN2, KPNB2B P Transportin 2 603002 R
19.303 3 8 16 19p13.13 WDR83, MORG1 P WD repeat-containing protein 83 616850 REc
19.304 2 12 14 19p13.13 KLF1, EKLF, INLU, HBFQTL6, CDAN4 P Kruppel-like factor 1, erythroid 600599 A Blood group--Lutheran inhibitor, 111150 (3); [Hereditary persistence of fetal hemoglobin], 613566 (3); Dyserythropoietic anemia, congenital, type IV, 613673 (3)
19.305 2 25 15 19p13.12 AKAP8, AKAP95 P A-kinase anchor protein 8 604692 REa, REc
19.306 8 24 09 19p13.11 AP1M1, AP47, CLAPM2 P Adaptor-related protein complex 1, mu 1 subunit 603535 REa
19.307 7 21 15 19p13.11 CALR3, CRT2, CMH19 P Calreticulin 3 611414 REc mutation identified in 1 CMH19 patient ?Cardiomyopathy, hypertrophic, 19, 613875 (3)
19.308 5 2 06 19p13.12 CC2D1A, MRT3 P Coiled-coil and C2 domain-containing 1A 610055 REc, Fd Mental retardation, autosomal recessive 3, 608443 (3)
19.309 2 29 16 19p13.12 CLEC17A P C-type lectin domain family 17, member A 616838 REc
19.310 11 11 14 19p13.12 CYP4F2 P Cytochrome P450, family 4, subfamily F, polypeptide 2 604426 REc
19.311 1 18 13 19p13.12 CYP4F22, ARCI5, LI3 C Cytochrome P450, family 4, subfamily F, polypeptide 22 611495 REc Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
19.312 3 27 17 19p13.12 EPHX3, ABHD9 P Epoxide hydrolase 3 617400 REc
19.313 4 2 12 19p13.11 FAM32A, OTAG12 P Family with sequence similarity 32, member A 614554 REc 8(Fam32a)
19.314 3 23 09 19p13.12 MIR24-2, MIRN24-2 P Micro RNA 24-2 610724 REc
19.315 3 23 09 19p13.12 MIR27, MIRN27A P Micro RNA 27A 612153 REc
19.316 10 29 03 19p13.12 PGRPL P Peptidoglycan recognition protein, long 608199 REc
19.317 8 24 15 19p13.12 RASAL3 P Ras protein activator-like 3 616561 REc
19.318 8 18 14 19p13.12 SLC1A6, EAAT4 P Solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 600637 REc
19.319 3 17 17 19p13.12 SYDE1 P Synapse defective Rho GTPase, C. elegans, homolog of, 1 617377 REc
19.320 6 2 11 19p13.12 TECR, GPSN2, TER, SC2, MRT14 P Trans-2,3-enoyl-CoA reductase 610057 R, REc Mental retardation, autosomal recessive 14, 614020 (3)
19.321 5 30 17 19p13.12 UCA1, LINC00178, CUDR P Urothelial cancer-associated gene 1 617500 REc
19.322 2 25 15 19p13.12 AKAP8L, HA95, NAKAP, HAP95 P A-kinase anchor protein 8-like protein 609475 REa
19.323 9 23 96 19p13.13 DHPS C Deoxyhypusine synthase 600944 REa, A
19.324 6 15 99 19p13.12 NDUFB7 P NADH-ubiquinone oxidoreductase 1 beta subcomplex, 7 603842 R
19.325 1 8 01 19p12 ZNF254, ZNF91L P Zinc finger protein-254 604768 R
19.326 3 24 06 19p13.11 BCNP1 P B-cell novel protein 1 609967 R, REc
19.327 10 23 15 19p13.11 BORCS8, MEF2BNB P BLOC1-related complex, subunit 8 616601 REc
19.328 5 12 09 19p13.11 C10orf62, MERIT40, NBA1 P Chromosome 19 open reading frame 62 612766 REc
19.329 10 14 10 19p13.11 CILP2 P Cartilage intermediate layer protein 2 612419 REc
19.330 6 17 17 19p13.11 COLGALT1, GLT25D1 C Collagen beta(1-0)galactosyltransferase 1 617531 REc
19.331 8 24 09 19p13.11 COPE P Cotamer protein complex, subunit epsilon 606942 R, REc
19.332 1 27 17 19p13.11 CPAMD8, KIAA1283, ASGD8 P Complement component 3- and pregnancy zone protein-like alpha-2-macroglobin domain-containing protein 8 608841 REc Anterior segment dysgenesis 8, 617319 (3)
19.333 2 23 16 19p13.11 EPS15L1, EPS15R P EPS15-like protein 1 616826 REc
19.334 9 7 10 19p13.11 FCHO1 P FCH domain-only protein 1 613437 REc
19.335 2 5 15 19p13.11 GTPBP3, MSS1, COXPD23 P GTP-binding protein 3 608536 REc Combined oxidative phosphorylation deficiency 23, 616198 (3)
19.336 9 7 10 19p13.11 HAUS8, DGT4, HICE1 P HAUS augmin-like complex, subunit 8 613434 REc
19.337 7 9 06 19p13.11 HOMER3 P Homer, homolog 3 (Drosophila) 604800 R, REc
19.338 6 22 10 19p13.11 IFI30, GILT P Interferon-gamma-inducible protein 30 604664 REc
19.339 4 17 13 19p13.11 KXD1, C10orf50 P KXDL motif-containing protein 1 615178 REc
19.340 9 16 16 19p13.11 LINC00663 P Long intergenic noncoding RNA 663 617117 REc
19.341 8 24 09 19p13.11 LSM4 P LSM4 protein 607284 R, REc
19.342 4 10 14 19p13.11 MAP1S, BPY2IP1, VCY2IP1, C19orf5 P Microtubule-associated protein 1S 607573 R, REc
19.343 9 24 08 19p13.11 MAST3, KIAA0561 P Microtubule-associated serine/threonine kinase 3 612258 R, REc
19.344 3 28 12 19p13.11 MAU2, SCC4, KIAA0892 P MAU2 chromatid cohesion factor, C. elegans, homolog of 614560 REc
19.345 8 24 09 19p13.11 MED26, CRSP7, CRSP70 P Mediator complex subunit 26 605043 R, REc
19.346 12 30 14 19p13.11 MPV17L2 P MPV17-like protein 2 616133 REc
19.347 7 12 13 19p13.11 NXNL1, RDCVF, TXNL6, LOC115861 P Nucleoredoxin-like protein 1 608791 REc, H 8(Nxnl1)
19.348 1 4 16 19p13.11 NWD1 P NACHT domain- and WD repeat-containing protein 1 616250 REc
19.349 11 11 14 19p13.11 PBX4 P Pre-B-cell leukemia transcription factor 4 608127 REc, A, H 8(Pbx4)
19.350 1 10 07 19p13.11 PGPEP1, PCP, PGP P Pyroglutamyl peptidase I 610694 REc
19.351 11 10 17 19p13.11 SUGP1, SF4 P SURP and G-patch domains-containing protein 1 607992 REc
19.352 8 24 09 19p13.11 SIN3B, KIAA0700 P Sin3, yeast, homolog of, B 607777 R, REc
19.353 3 12 07 19p13.11 SLC25A42 P Solute carrier family 25, member 42 610823 REc 8(Slc25a42)
19.354 11 10 17 19p13.11 SUGP2, SRFS14, KIAA0365 C SURP and G-patch domains-containing protein 2 607993 R, REc
19.355 11 6 00 19p13.12 TCCR, WSX1 P T-cell cytokine receptor 605350 Psh, R
19.356 11 24 08 19p13.11 TMEM16H, KIAA1623 C Transmembrane protein 16H 610216 R, REc
19.357 4 6 15 19p13.11 TMEM38A, TRICA P Transmembrane protein 38A 611235 REc
19.358 1 23 07 19p13.11 TSSK6, SSTK, TSSK4 C Testis-specific serine/threonine kinase 6 610712 REc 8(Tssk6)
19.359 2 11 16 19p13.12 ADGRE2, EMR2, VBU P Adhesion G protein-coupled receptor E2 606100 REc Vibratory urticaria, 125630 (3)
19.360 2 23 16 19p13.12 ADGRE5, CD97 P Adhesion G protein-coupled receptor E5 601211 REa
19.361 5 15 08 19p13.12 BRD4, CAP, HUNK1 P Bromodomain-containing protein 4 608749 REc, A, H fused with NUT 17(Brd4)
19.362 1 27 17 19p13.12 CASP14, ARCI12 P Caspase 14, apoptosis-related cysteine protease 605848 REc Ichthyosis, congenital, autosomal recessive 12, 617320 (3)
19.363 7 4 95 19p13.11 COMP, EDM1, MED, PSACH P Cartilage oligomeric matrix protein 600310 REa, A, Fd Pseudoachondroplasia, 177170 (3); Epiphyseal dysplasia, multiple, 1, 132400 (3)
19.364 8 20 08 19p13.12 CYP4F8 P Cytochrome P450, family 4, subfamily F, polypeptide 8 611545 REc
19.365 10 13 09 19p13.12 CYP4F11 P Cytochrome P450, family 4, subfamily F, polypeptide 11 611517 R, REc
19.366 12 3 07 19p13.12 CYP4F12 P Cytochrome P450, family 4, subfamily F, polypeptide 12 611485 REc
19.367 4 23 96 19p13.11 ELL C ELL gene (11-19 lysine-rich leukemia gene) 600284 Ch, RE
19.368 10 6 15 19p13.12 EMR3 P EGF-like module-containing, mucin-like hormone receptor 3 606101 REc
19.369 9 8 14 19p13.11 IL12RB1, IMD30 P Interleukin-12 receptor, beta-1 601604 A Immunodeficiency 30, 614891 (3)
19.370 4 19 01 19p13.12 ILVBL, AHAS P IlvB-like (acetolactate synthase, bacterial, homolog of) 605770 REc
19.371 12 17 07 19p13.11 ISYNA1, IPS P Myoinositol 1-phosphate synthase A1 611670 REc pseudogene on 4p15
19.372 5 4 12 19p13.11 JAK3, JAKL P Janus kinase 3 (Janus kinase, leukocyte) 600173 A, Psh SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
19.373 5 7 03 19p13.11 KLF2, LKLF C Kruppel-like factor 2 602016 R, REa, A
19.374 3 5 08 19p13.11 MRPL34 P Mitochondrial ribosomal protein L34 611840 R, REc
19.375 12 7 05 19p13.11 MYO9B, MYR5, CELIAC4 P Myosin IXB 602129 A, REc {Celiac disease, susceptibility to, 4}, 609753 (3)
19.376 8 24 09 19p13.11 NR2F6, ERBAL2, EAR2 P Nuclear receptor subfamily 2, group F, member 6 132880 REb, REc
19.377 12 14 99 19p13.11 PDE4C, DPDE1 C Phosphodiesterase-4C, cAMP-specific (dunce, Drosophila, homolog phosphodiesterase E1) 600128 REa, A between JUND (proximal) and RAB3A (distal) 8(Pde4c)
19.378 6 27 14 19p13.12 PRKACA P Protein kinase, cAMP-dependent, catalytic, alpha 601639 A Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (3)
19.379 6 13 95 19p13.12 PTGER1 P Prostaglandin E receptor 1, EP1 subtype, 42kD 176802 A
19.380 10 15 97 19p13.12 RFX1 C Regulatory factor (trans-acting) 1 (influences HLA class II expression) 600006 A
19.381 1 28 02 19p13.12 RGS19IP1, C19orf3, GIPC C Regulator of G-protein signaling 19 interacting protein 1 605072 R, A
19.382 1 8 01 19p13.11 SLC27A1, FATP, FATP1 P Solute carrier family 27, member 1 600691 A
19.383 4 24 09 19p13.2 SLC44A2, CTL2 P Solute carrier family 44, member 2 606106 REc
19.384 12 4 02 19p13.11 SSBP4 P Single-stranded DNA-binding protein 4 607391 REc
19.385 9 29 96 19p13.12-p13.11 TPM4 P Tropomyosin 4 600317 Psh, A
19.386 2 23 08 19p13.11 USHBP1, MCC2 P USH1C-binding protein 1 611810 R, REc
19.387 2 23 08 19p13.12 ZNF333, KIAA1806 P Zinc finger protein 333 611811 REc
19.388 4 25 93 19p13.11 JUND C jun D proto-oncogene 165162 A 8(Jund)
19.389 4 25 93 19p13.11 RAB3A C RAS-associated protein RAB3A 179490 REb, A
19.390 6 19 00 19p12 ZNF43 P Zinc finger protein-43 603972 A
19.391 3 20 94 19p13.11 UBA52 P Ubiquitin A-52 residue ribosomal protein fusion product 1 191321 REa, A
19.392 6 19 00 19p12 ZNF90 P Zinc finger protein-90 603973 A
19.393 6 19 00 19p12 ZNF91 P Zinc finger protein-91 603971 A
19.394 8 10 99 19p12 ZNF85 P Zinc finger protein-85 603899 Psh, A
19.395 6 19 00 19p12 ZNF93 P Zinc finger protein-93 603975 A
19.396 6 19 00 19p13.1-p12 ZNF94 P Zinc finger protein-94 603976 REc
19.397 6 6 00 19p12 ZNF100 P Zinc finger protein-100 603982 A
19.398 6 6 00 19p13.11 ZNF101 P Zinc finger protein-101 603983 A
19.399 6 6 00 19p13.1-p12 ZNF103 P Zinc finger protein-103 603985 A
19.400 6 6 00 19p13.1-p12 ZNF105 P Zinc finger protein-105 603987 A
19.401 6 6 00 19p13.1-p12 ZNF106 P Zinc finger protein-106 603988 A
19.402 6 6 00 19p13.1-p12 ZNF109 P Zinc finger protein-109 603991 A
19.403 6 6 00 19p13.1-p12 ZNF110 P Zinc finger protein-110 603992 A
19.404 6 6 00 19p13.1-p12 ZNF111 P Zinc finger protein-111 603993 A
19.405 6 6 00 19q13.31 ZNF112 P Zinc finger protein-112 603994 A
19.406 6 19 00 19p13.1-p12 ZNF113 P Zinc finger protein-113 603995 A ?13q21
19.407 6 19 00 19p13.1-p12 ZNF118 P Zinc finger protein-118 603997 A ?13q21
19.408 6 6 00 19p13.1-p12 ZNF119 P Zinc finger protein-119 603998 A
19.409 6 6 00 19p13.1-p12 ZNF120 P Zinc finger protein-120 603999 A
19.410 6 6 00 19p13.1-p12 ZNF122 P Zinc finger protein-122 604000 A
19.411 9 9 09 19p12 ZNF208, ZNF95 P Zinc finger protein-208 603977 A
19.412 9 2 09 19p12 ZNF737, ZNF102 P Zinc finger protein-737 603984 A
19.413 9 22 16 19p13.13 CACNA1A, CACNL1A4, SCA6, EIEE42 C Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 601011 A, Fd Migraine, familial hemiplegic, 1, 141500 (3); Episodic ataxia, type 2, 108500 (3); Spinocerebellar ataxia 6, 183086 (3); Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3); Epileptic encephalopathy, early infantile, 42, 617106 (3) 8(tg, Cacl1a4)
19.414 11 9 95 19p13.2 CDKN2D P Cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) 600927 A possible tumor suppressor
19.415 8 2 13 19p13.3 CELF5, BRUNOL5 P CUGbp- and ELAV-like family, member 5 612680 REc
19.416 10 27 08 19p13.11 CRTC1, MECT1, KIAA0616, FLJ14027 P CREB-regulated transcription coactivator 1 607536 Ch t(11;19) Mucoepidermoid salivary gland carcinoma (3)
19.417 10 17 00 19p13.3 FSTL3, FLRG P Follistatin-like 3 605343 REa, A
19.418 8 13 13 19p13.3 GNA11, HHC2, HYPOC2 C Guanine nucleotide-binding protein, Gq class, GNA11 139313 A, Fd Hypocalciuric hypercalcemia, type II, 145981 (3); Hypocalcemia, autosomal dominant 2, 615361 (3) 10(Gna11)
19.419 9 27 95 19p13.3 GNA15, GNA16 P Guanine nucleotide-binding protein (G protein) alpha 15 (Gq class) 139314 REa, A 10(Gna15)
19.420 2 21 02 19p13 IBD6 P Inflammatory bowel disease 6 606674 Fd {Inflammatory bowel disease 6} (2)
19.421 5 6 03 19p13.2 ILF3, NF90, DRBP76, MPHOSPH4, NFAR P Interleukin enhancer-binding factor 3 603182 A
19.422 10 24 03 19p13 MGR5 P Migraine with or without aura, susceptibility to, 5 607508 Fd {Migraine with or without aura, susceptibility to, 5} (2)
19.423 6 15 99 19p13.3 NDUFS7, PSST P NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kD (NADH-coenzyme Q reductase) 601825 A Leigh syndrome, 256000 (3)
19.424 5 22 03 19p13.2 P2RY11 P Purinergic receptor P2Y, G protein-coupled, 11 602697 REc fuses with PPAN
19.425 3 9 98 19p13.2 PIN1, DOD P Peptidyl-prolyl cis/trans isomerase, NIMA-interacting 601052 Psh, A
19.426 7 18 14 19p13 PPNAD4 P Pigmented nodular adrenocortical disease, primary, 4 615830 Ch duplication of 294kb to 2.7Mb on 19p13 Pigmented nodular adrenocortical disease, primary, 4 (4)
19.427 5 22 03 19p13.2 PPAN, SSF1 P Peter pan, Drosophila, homolog of 607793 REc fuses with P2RY11
19.428 11 21 00 19p13 PSORS6 P Psoriasis susceptibility 6 605364 Fd {Psoriasis susceptibility 6} (2)
19.429 8 25 05 19p13.13 RTBDN P Retbindin 609553 REc
19.430 4 15 04 19p13.2 RDH8, PRRDH P Retinol dehydrogenase 8 608575 REc
19.431 6 28 99 19p13.3 SGTA, SGT P Small glutamine-rich tetratricopeptide repeat-containing protein, alpha 603419 A
19.432 12 11 98 19p13.3 TNFSF7, CD70, CD27L P Tumor necrosis factor ligand superfamily, member 7 (CD70 antigen) 602840 A
19.433 6 4 13 19p13.3 UBXN6, UBXD1 P UBX domain protein 6 611946 REc
19.434 9 9 10 19p13.2 ZNF177 P Zinc finger protein 177 601276 REc
19.435 9 30 02 19p13.11 ZNF253 P Zinc finger protein 253 606954 A
19.436 4 6 11 19p13.2 ZNF317, KIAA1588 P Zinc finger protein 317 613864 REc
19.437 5 27 93 19q13.33 CD37 P Leukocyte surface antigen CD37 151523 REa
19.438 2 24 15 19p13.11 CERS1, LASS1, UOG1, EPM8 P Ceramide synthase 1 606919 A mutation identified in 1 EPM8 family ?Epilepsy, progressive myoclonic, 8, 616230 (3)
19.439 11 10 14 19p13.11 CRLF1, CISS1 C Cytokine-like factor 1 604237 TM, REc, Fd, Ch Cold-induced sweating syndrome 1, 272430 (3)
19.440 11 2 98 19p13.11 CSPG3, NCAN P Chondroitin sulfate proteoglycan 3 (neurocan) 600826 REc
19.441 2 3 99 19p13.11 F2RL3, PAR4 P Coagulation factor II, thrombin, receptor-like 3 (protease-activated receptor-4) 602779 A
19.442 1 24 04 19p13.11 FKBP8, FKBP38 P FK506-binding protein 8 604840 R, REc pseudogene on 1q32
19.443 9 19 13 19p13.11 GDF1, DTGA3, DORV, RAI P Growth/differentiation factor 1 602880 REc Double-outlet right ventricle, 217095 (3); Tetralogy of Fallot, 187500 (3); Transposition of great arteries, dextro-looped 3, 613854 (3); Right atrial isomerism, 208530 (3)
19.444 9 18 08 19p13.11 LPAR2, EDG4 P Lysophosphatidic acid receptor 2 605110 REc 8(Edg4)
19.445 11 8 95 19p13.11 MEF2B P MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B) 600661 REn ?8(Mef2b)
19.446 11 30 06 19p13.12 PKN1, PRKCL1, PRK1, PAK1 C Protein kinase N1 601032 R, A 8(Prkcl1)
19.447 11 2 98 19p13.11 RFXANK P Regulatory factor X, ankyrin repeat-containing 603200 REc MHC class II deficiency, complementation group B, 209920 (3)
19.448 12 27 01 19p13.11 TM6SF2, KIAA1926 P Transmembrane 6 superfamily, member 2 606563 REc
19.449 8 25 16 19p13.11 TMEM59L, BSMAP C Transmembrane protein 59-like 617096 REc, H 8(Tmem59l)
19.450 8 24 09 19p12 ZNF98 P Zinc finger protein-98 603980 REc
19.451 8 24 09 19p12 ZNF99 P Zinc finger protein-99 603981 REc
19.452 11 20 12 19p12 ZNF257 P Zinc finger protein 257 606957 A
19.453 11 1 05 19p13.11 GMIP P GEM-interacting protein 609694 REc
19.454 11 30 94 19p EXT3 P Exostoses, multiple, 3 600209 Fd Exostoses, multiple, type 3 (2)
19.455 10 20 99 19p13.11 RPL18A P Ribosomal protein L18a 604178 REa, R
19.456 2 7 01 19p13.3 RPS15, RIG P Ribosomal protein S15 180535 REa, R
19.457 6 20 01 19p13.11 TMEM3, B3GNT3 P Transmembrane protein 3 (beta-1,3-N-acetylglucosaminyltransferase 3) 605863 REc
19.458 7 13 93 19p13.3 ZNF77 P Zinc finger protein-77 (pT1) 194551 REa
19.459 4 25 93 19p13.2 ZNF121, D19S204 P Zinc finger protein-121 (clone ZHC32) 194628 REa, Fd
19.460 8 9 05 19p13.13 MAN2B1, MANB C Mannosidase, alpha, class 2B, member 1 609458 S, Psh, REa Mannosidosis, alpha-, types I and II, 248500 (3) 8(Man2b1)
19.461 2 21 10 19q13.11 PEPD C Peptidase D (prolidase) 613230 S, F, H, Fd closely linked to APOC2 Prolidase deficiency, 170100 (3) 7(Pep4)
19.462 2 2 90 19q13.43 A1BG P Glycoprotein, alpha-1B 138670 F order: C3-SE-LU-A1BG
19.463 4 8 11 19q BFIS1, BFIC1 P Benign familial infantile seizures 601764 Fd Seizures, benign familial infantile, 1 (2)
19.464 3 29 07 19q13.43 CHMP2A, VPS2A, VPS2, BC2 P CHMP family, member 2A 610893 R
19.465 2 28 03 19q HPCQTL19 P Prostate cancer aggressiveness quantitative trait locus on chromosome 19 607592 Fd D19S902 {Prostate cancer aggressiveness QTL}, 176807 (2)
19.466 8 27 01 19q13.32 PUMA P p53-upregulated modulator of apoptosis 605854 R
19.467 10 20 99 19q13.33 RPL18 P Ribosomal protein L18 604179 REa, R
19.468 7 13 92 19q13.33 RPS11 P Ribosomal protein S11 180471 Psh
19.469 2 7 01 19q13.2 RPS16 P Ribosomal protein S16 603675 REa, R
19.470 2 7 01 19q13.2 SIRT2, SIR2L, SIR2L2 P Sirtuin, S. cerevisiae, homolog 2 604480 REc
19.471 2 27 02 19q SLI2 P Specific language impairment QTL, 2 606712 Fd Specific language impairment QTL, 2 (2)
19.472 5 17 95 19q13.33 SYT3 P Synaptotagmin-3 600327 REa, H 7(Syt3)
19.473 3 9 11 19q13.2 CXCL17, VCC1, DMC P Chemokine (C-X-C motif) ligand 17 611387 REc
19.474 5 6 13 19q12 PLEKHF1, LAPF, PHAFIN1 P Pleckstrin homolog domain-containing protein, family F, member 1 615200 REc 7(Plekhf1)
19.475 3 19 93 19q13.11 HPN P Hepsin 142440 REa
19.476 11 20 13 19q12 C19orf12, NBIA4, SPG43 P Chromosome 19 open reading frame 12 614297 REc mutation identified in 1 SPG43 family Neurodegeneration with brain iron accumulation 4, 614298 (3); ?Spastic paraplegia 43, autosomal recessive, 615043 (3)
19.477 1 25 11 19q12 HSCR7 P Hirschsprung disease, susceptibility to, 7 606875 Fd {Hirschsprung disease, susceptibility to, 7} (2)
19.478 1 14 13 19q13.2 MEGF8, EGFL4, CRPT2 P Multiple epidermal growth factor-like domains 8 604267 R Carpenter syndrome 2, 614976 (3)
19.479 5 27 94 19q13.12 POLR2I P Polymerase (RNA) II (DNA directed) polypeptide I, 14.5kD 180662 A
19.480 8 24 09 19q12 RPP29, POP4 P Ribonuclease P, 29kD subunit 606114 R, REc
19.481 3 15 10 19q13.11 UBA2, SAE2 P Ubiquitin-like modifier-activating enzyme 2 613295 REc
19.482 7 4 95 19q12 UQCRFS1 P Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 191327 REa, A, RE
19.483 4 27 17 19q12 URI1, NNX3, RMP P Prefoldin-like chaperone URI1 603494 REc, A
19.484 6 3 14 19q13.2 DYRK1B, MIRK, AOMS3 C Dual-specificity tyrosine phosphorylation-regulated kinase 1B 604556 R, REc Abdominal obesity-metabolic syndrome 3, 615812 (3)
19.485 10 12 14 19q13.2 ATP1A3, DYT12, RDP, AHC2, CAPOS C ATPase, Na+K+ transporting, alpha-3 polypeptide 182350 REa, H, Fd Dystonia-12, 128235 (3); Alternating hemiplegia of childhood 2, 614820 (3); CAPOS syndrome, 601338 (3) 7(Atpla3)
19.486 6 28 99 19q13.11 LRP3 P Low density lipoprotein receptor related protein 3 603159 Psh, A
19.487 7 9 09 19q13.12 SDHAF1 P Succinate dehydrogenase complex assembly factor 1 612848 REc, Fd Mitochondrial complex II deficiency, 252011 (3)
19.488 9 30 09 19q13 AAA1, AAA P Aortic aneurysm, familial abdominal 1 100070 Fd near D19S416 Aortic aneurysm, familial abdominal 1 (2)
19.489 3 1 00 19q13.2 ACTN4, FSGS1, FSGS C Actinin, alpha-4 604638 Fd, REc Glomerulosclerosis, focal segmental, 1, 603278 (3) 7(Actn4)
19.490 1 17 17 19q13.33 ACPT, AI1J P Acid phosphatase, testicular 606362 REc Amelogenesis imperfecta, type IJ, 617297 (3)
19.491 8 24 04 19q13 ANIB2 P Aneurysm, intracranial berry, 2 608542 Fd between D19S245 and D19S246 Aneurysm, intracranial berry, 2 (2)
19.492 9 15 98 19q13.33 BCAT2, BCT2 C Branched chain aminotransferase-2, mitochondrial 113530 S, H ?Hypervalinemia or hyperleucine-isoleucinemia (1) 7(Bcat2)
19.493 6 5 90 19q13.32 BCL3 C B-cell CLL/lymphoma-3 109560 Ch, S, H Leukemia/lymphoma, B-cell, 3 (2) 7(Bcl3)
19.494 2 3 06 19q13.32 BLOC1S3, BLOS3, HPS8 P Biogenesis of lysosome-related organelles complex 1, subunit 3 609762 R, Fd Hermansky-Pudlak syndrome 8, 614077 (3) 7(rp)
19.495 8 18 04 19q13.2 CAPN12 P Calpain 12 608839 REc 7(Capn12)
19.496 7 23 13 19q13 CTRCT35, CATCN1 P Cataract 35 609376 Fd max lod at D19S416 Cataract 35, congenital nuclear (2)
19.497 10 25 90 19q13.32 CKM, CKMM C Creatine kinase, muscle type 123310 REa, A 7(Ckmm)
19.498 6 19 15 19q13.12 CLIP3, CLIPR59 P CAP-GLY domain-containing linker protein 3, 607382 (3) 607382 R
19.499 1 31 08 19q13.2 CNFN P Cornifelin 611764 REc, H 7(Cnfn)
19.500 9 30 09 19q13.33 CYTH2, PSCD2, ARNO, PSCD2L P Cytohesin 2 602488 R
19.501 3 30 00 19q13.2 DLL3, SCDO1 C Delta, Drosophila, homolog of 602768 Fd, REc Spondylocostal dysostosis 1, autosomal recessive, 277300 (3) 7(Dll3)
19.502 4 1 08 19q13 EA7 P Episodic ataxia, type 7 611907 Fd between rs1366444 and rs952108 Episodic ataxia, type 7 (2)
19.503 9 12 95 19q13.2 ECH1 P Enoyl Coenzyme A hydratase 1, peroxisomal 600696 REc, REa
19.504 12 7 04 19q13.42 EPN1 P Epsin 1 607262 REc
19.505 6 30 05 19q13.33 FGF21 P Fibroblast growth factor 21 609436 REc
19.506 7 18 12 19q13.33 FUZ, NTD P Fuzzy, Drosophila, homolog of 610622 REc Neural tube defects, 182940 (3)
19.507 10 19 10 19q13.12 HAMP, LEAP1, HEPC, HFE2B C Hepcidin antimicrobial peptide 606464 REc, Fd digenic form with HAMP and HFE mutations Hemochromatosis, type 2B, 613313 (3) 7(Hepc1)
19.508 3 7 06 19q13.43 NALP5, MATER P NACHT domain-, leucine-rich repeat-, and PYD-containing protein 5 609658 REc
19.509 9 1 95 19q13 OFC3 P Orofacial cleft-3 600757 Fd ?role of BCL3 Orofacial cleft-3 (2) 7(Cebpa)
19.510 10 29 03 19q13.32 PGRP, PGRPS P Peptidoglycan recognition protein 604963 REc
19.511 8 11 91 19q13.31 PLAUR, URKR P Plasminogen activator, urokinase, receptor 173391 REa, Fd
19.512 10 12 16 19q13.33 PRMT1, HRMT1L2, IR1B4 P Protein arginine methyltransferase 1 602950 REa, A 7(Prmt1)
19.513 9 27 01 19q13.33 SLC17A7, BNPI, VGLUT1 P Solute carrier family 17, (sodium-dependent inorganic phosphate cotransporter), member 7 605208 A
19.514 8 1 12 19q13 UAQTL5 P Uric acid concentration, serum, quantitative trait locus 5 614746 Fd associated with rs150414818 [Uric acid concentration, serum, QTL5] (2)
19.515 9 30 02 19q13.43 ZNF256 P Zinc finger protein 256 606956 A
19.516 12 2 92 19q13.12 ATP4A, ATP6A P ATPase, H+, K+ transporting, alpha 137216 A 7(Atp4a)
19.517 9 7 10 19q13.2 CATSPERG P Cation channel, sperm-associated, gamma 613452 REc
19.518 3 31 15 19q12 CCNE1 C Cyclin E1 123837 A, REc 7(Ccne)
19.519 7 13 93 19q13.12 CD22 P CD22 antigen 107266 A
19.520 12 30 14 19q13.11 CEBPA, CEBP C CCAAT/enhancer-binding protein (C/EBP), alpha 116897 REa, A germline mutation identified in 1 AML family ?Leukemia, acute myeloid, 601626 (3); Leukemia, acute myeloid, somatic, 601626 (3)
19.521 3 15 15 19q13.11 CHST8, GALNAC4ST1, PSS3 P Carbohydrate sulfotransferase 8 610190 REc mutation has been identified in 1 PSS3 family ?Peeling skin syndrome 3, 616265 (3)
19.522 11 4 93 19q13.2 CLC C Charcot-Leyden crystal protein 153310 REa, A, RE
19.523 11 7 16 19q13.2 COQ8B, ADCK4, NPHS9 P Coenzyme Q8B 615567 REc Nephrotic syndrome, type 9, 615573 (3)
19.524 11 5 15 19q13.12 COX6B1 P Cytochrome c oxidase, subunit VIb polypeptide 1 (ubiquitous) 124089 A Mitochondrial complex IV deficiency, 220110 (3)
19.525 8 3 99 19q13.12 DAP10 P DNAX-activation protein 10 604089 REn
19.526 11 23 16 19q13.12 DMKN C Dermokine 617211 REc, H 7(Dmkn)
19.527 11 23 16 19q13.12 KDAP P Keratinocyte differentiation-associated protein 617212 REn, H 7(Krtdap)
19.528 11 23 16 19q13.2 ERF, PE2, CRS4, CHYTS C ETS2 repressor factor 611888 Psh, A, H Craniosynostosis 4, 600775 (3); Chitayat syndrome, 617180 (3) 7(Erf)
19.529 5 16 05 19q13.12 ETV2, ETSRP71 P ETS variant gene 2 609358 R, REc
19.530 5 8 15 19q13.12 FFAR1, GPR40 P Free fatty acid receptor 1 603820 REn
19.531 5 8 15 19q13.12 FFAR3, GPR41 P Free fatty acid receptor 3 603821 REn
19.532 5 8 15 19q13.12 FFAR2, GPR43 P Free fatty acid receptor 2 603823 REn
19.533 5 23 00 19q13.12 FXYD1, PLM P FXYD domain-containing ion transport regulator 1 (phospholemman) 602359 A
19.534 1 25 05 19q13.12 GAPDHS, GAPD2 P Glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 609169 REc 9.5 Mbp prox. to APOE
19.535 9 9 10 19q13.11 GPI C Glucose phosphate isomerase; neuroleukin 172400 S, D, A Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3) 7(Gpi1)
19.536 5 21 99 19q13.12 GPR42 P G protein-coupled receptor-42 603822 REn
19.537 5 2 01 19q13.2 KCNK6, TWIK2, TOSS P Potassium channel, subfamily K, member 6 603939 R
19.538 1 9 17 19q13.12 KMT2B, MLL4, KIAA0304, DYT28 C Lysine (K)-specific methyltransferase 2B 606834 R, REc, A Dystonia 28, childhood-onset, 617284 (3)
19.539 4 18 05 19q13.2 LGALS13, GAL13, PP13 P Lectin, galactoside-binding, soluble, 13 608717 REc, R
19.540 12 9 15 19q13.12 MAG, GMA, SPG75 C Myelin-associated glycoprotein 159460 REa, REb, A Spastic paraplegia 75, autosomal recessive, 616680 (3) 7(Mag)
19.541 5 22 03 19q13.12 KIRREL2, NEPH3, NLG1, FILTRIN P Kin or IRRE-like 2 (nephrin-like 3) 607762 REc
19.542 2 9 00 19q13.2 NFKBIB, IKBB, TRIP9 P Nuclear factor of kappa light chain gene enhancer in B cells inhibitor, beta 604495 A
19.543 10 25 10 19q13.12 NPHS1, NPHN P Nephrin 602716 Fd, REn Nephrotic syndrome, type 1, 256300 (3)
19.544 6 30 15 19q13.12 OVOL3 P ovo-like 3 616442 REc
19.545 10 2 98 19q13.2 PAFAH1B3 P Platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 603074 R, A
19.546 9 10 98 19q13.2 MRPS12, RPSM12 C Ribosomal protein, mitochondrial, S12 603021 REa, R
19.547 1 21 16 19q13.2 PLEKHG2, CLG, LDAMD P Pleckstrin homology domain-containing protein, family G, member 2 611893 REc Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
19.548 3 22 07 19q13.2 PPP1R14A, CPI17 C Protein phosphatase 1, regulatory subunit 14A 608153 R, REn
19.549 12 4 17 19q13.12 PSENEN, PEN2, ACNINV2 P Presenilin enhancer 2, C. elegans, homolog of 607632 R Acne inversa, familial, 2, with or without Dowling-Degos disease, 613736 (3)
19.550 2 28 03 19q13.2 RASGRP4 P Ras guanyl nucleotide-releasing protein 4 607320 REc
19.551 7 12 13 19q13.2 RYR1, MHS, CCO C Ryanodine receptor-1, skeletal 180901 A, Fd, H {Malignant hyperthermia susceptibility 1}, 145600 (3); Central core disease, 117000 (3); Minicore myopathy with external ophthalmoplegia, 255320 (3); Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3); King-Denborough syndrome, 145600 (3) 7(Ryr)
19.552 3 24 06 19q13.12 SBSN P Suprabasin 609969 REc, H 7(Sbsn)
19.553 2 22 18 19q13.33 CLEC11A, SCGF, LSLCL C C-type lectin domain family 11, member A 604713 A, REc, H 7(Scgf)
19.554 2 24 17 19q13.11 SCN1B, GEFSP1, BRGDA5, ATFB13, EIEE52 C Sodium channel, voltage-gated, type I, beta polypeptide 600235 A, Fd Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3); Brugada syndrome 5, 612838 (3); Cardiac conduction defect, nonspecific, 612838 (3); Atrial fibrillation, familial, 13, 615377 (3); Epileptic encephalopathy, early infantile, 52, 617350 (3)
19.555 8 18 08 19q13.2 SERTAD3, RBT1 P SERTA domain-containing 3 612125 REc
19.556 3 8 16 19q13.1-q13.2 SIPA1L3, SPAL3, SPAR3, KIAA0545, CTRCT45 C SIPA1-like protein 3 616655 R, REc mutation identified in 1 CTRCT45 family ?Cataract 45, 616851 (3)
19.557 4 21 10 19q13.11 SLC7A9, CSNU3 C Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 604144 Fd, REc Cystinuria, 220100 (3)
19.558 2 12 99 19q13.2 SNRPA P Small nuclear ribonucleoprotein polypeptide A 182285 REa
19.559 4 1 09 19q13.2 SPINT2, HAI2, DIAR3 P Serine protease inhibitor, Kunitz-type, 2 (hepatocyte growth factor activator inhibitor 2; bikunin, placental) 605124 Psh Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)
19.560 12 23 05 19q13.2 TGFB1, DPD1, CED C Transforming growth factor, beta-1 190180 REa, A, Fd Camurati-Engelmann disease, 131300 (3); {Cystic fibrosis lung disease, modifier of}, 219700 (3) 7(Tgfb1)
19.561 7 15 99 19q13.33 TULP2 P Tubby-like protein-2 602309 R
19.562 12 11 02 19q13.12 TYROBP, PLOSL, DAP12 C TYRO protein tyrosine kinase-binding protein 604142 REc, Fd, Ld Nasu-Hakola disease, 221770 (3)
19.563 3 17 08 19q13.12 UPK1A, UPIA P Uroplakin 1A 611557 REc
19.564 7 11 17 19q13.12 USF2, FIP P Upstream transcription factor 2, c-fos interacting 600390 H, REc 7(Usf2)
19.565 1 17 07 19q13.12 ZBTB32, FAXF, TZFP, ROG P Zinc finger- and BTB domain-containing protein 32 605859 REc
19.566 8 19 91 19q13.2 ZFP36, TTP P Zfp36, mouse, homolog of 190700 REa, A, H 7(Zfp36)
19.567 1 6 97 19q13.12 ZNF146, OZF P Zinc finger protein-146 601505 A
19.568 11 14 11 19q13.2 AKT2, HIHGHH P Murine thymoma viral (v-akt) homolog-2 164731 A Diabetes mellitus, type II, 125853 (3); Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3) 7(Akt2)
19.569 9 22 93 19q13.2 AXL C AXL transforming sequence (a receptor tyrosine kinase) 109135 A
19.570 1 29 04 19q13.2 BCKDHA, MSUD1 C Branched chain keto acid dehydrogenase E1, alpha polypeptide 608348 REa, REb, A Maple syrup urine disease, type Ia, 248600 (3)
19.571 2 9 15 19q13.2 LIPE, LHS, FPLD6 C Lipase E, hormone-sensitive 151750 REa, A Lipodystrophy, familial partial, type 6, 615980 (3) 7(Lipe)
19.572 1 31 13 19q13.2 LTBP4, LTBP4S, LTBP4L, ARCL1C P Latent transforming growth factor-beta-binding protein 4 604710 A Cutis laxa, autosomal recessive, type IC, 613177 (3)
19.573 9 24 08 19q13.31 LYPD3 P LY6/PLAUR domain-containing protein 3 609484 A
19.574 4 6 00 19q13.2 MAP3K10, MLK2, MST P Mitogen-activated protein kinase kinase kinase 10 600137 A
19.575 7 30 14 19q13.2 PRX, CMT4F P Periaxin 605725 A, REc Dejerine-Sottas disease, 145900 (3); Charcot-Marie-Tooth disease, type 4F, 614895 (3)
19.576 6 28 99 19q13.2 SUPT5H, SPT5 P Suppressor of Ty 5, S. cerevisiae, homolog of 602102 Psh, R, H 7(Supt5h)
19.577 1 12 07 19q13.2 MAP4K1, HPK1 P Mitogen-activated protein kinase kinase kinase kinase 1 601983 R, REc
19.578 11 23 16 19q13.11 DEL19q13.11p, C19DELq13.11p P Chromosome 19q13.11 deletion syndrome, proximal 617219 Ch Chromosome 19q13.11 deletion syndrome, proximal (4)
19.579 11 23 16 19q13.11 DEL19q13.11d, C19DELq13.11d P Chromosome 19q13.11 deletion syndrome, distal 613026 Ch contiguous gene syndrome Chromosome 19q13.11 deletion syndrome, distal (4)
19.580 10 23 87 19q13.1-qter E11S C Echo 11 sensitivity 129150 S
19.581 4 17 07 19q13.11 C19orf40, FAAP24 P Chromosome 19 open reading frame 40 (Fanconi anemia-associated protein, 24kD 610884 REc
19.582 11 1 13 19q13.11 CEP89, CCDC123, CEP123, FLJ14640 P Centrosomal protein, 89kD 615470 REc
19.583 1 9 14 19q13.11 CEBPG, GPE1BP P CCAAT/enhancer-binding protein, gamma 138972 REc
19.584 4 15 11 19q13.11 DPY19L3 P DPY19-like 3 613894 REc
19.585 1 9 13 19p13.11 GATAD2A P GATA zinc finger domain-containing protein 2A 614997 REc
19.586 5 24 13 19q13.11 KCTD15 P Potassium channel tetramerization domain-containing protein 15 615240 REc
19.587 5 19 17 19q13.12 LGI4, AMCNMY P Leucine-rich gene, glioma-inactivated, 4 608303 REc Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3) 7(Lgi4)
19.588 4 13 15 19q13.11 LSM14A, RAP55 P LSM14A protein 610677 REc
19.589 3 7 14 19q13.11 PDCD2L, MGC13096 P Programmed cell death 2-like protein 615661 REc
19.590 3 25 14 19q13.11 PDCD5, TFAR19 P Programmed cell death 5 604583 REc
19.591 2 7 07 19q13.11 RGS9BP, R9AP, RGS9, PERRS P Regulator of G protein signaling 9-binding protein 607814 R Bradyopsia, 608415 (3)
19.592 4 6 18 19q13.11 RHPN2 P Rhophilin 2 617932 REc, H 7(Rhpn2)
19.593 2 22 13 19q13.11 SCGB2B2 P Secretoglobin, family 2B, member 2 615063 REc
19.594 2 25 15 19q13.11 SLC7A10, ASC1 P Solute carrier family 7 (cationic amino acid transporter, y+ system), member 10 607959 A, REc
19.595 7 27 11 19q12 TSHZ3, KIAA1474 P Teashirt zinc finger homeobox 3 614119 Psh, REc
19.596 9 29 96 19q13.12 CKAP1 P Cytoskeleton-associated protein 1 601303 A
19.597 6 28 99 19q13.2 PSMC4, TBP7, S6 P Proteasome 26S subunit, ATPase, 4 602707 A
19.598 3 16 10 19q13.12 ALKBH6, ABH6 P AlkB, E. coli, homolog of, 6 613304 REc
19.599 12 10 12 19q13.12 ARHGAP33, TCGAP P Rho GTPase-activating protein 33 614902 REc
19.600 8 24 09 19q13.12 CAPNS1, CAPN4 P Calpain, small polypeptide 114170 REb, REc
19.601 3 26 07 19q13.12 COX7A1, COX7AM C Cytochrome c oxidase, subunit VIIa, polypeptide-1, muscle 123995 REa, R, REc
19.602 8 24 09 19q13.12 FXYD3, PLML, MAT8 P FXYD domain-containing ion transport regulator 3 604996 R, REc
19.603 3 26 07 19q13.12 FXYD5 C FXYD domain-containing ion transport regulator 5 606669 R, REc
19.604 8 24 09 19q13.12 FXYD7 P FXYD domain-containing ion transport regulator 7 606684 R, REc
19.605 9 7 10 19q13.12 HAUS5, DGT5, KIAA0841 P HAUS augmin-like complex, subunit 5 613432 R, REc
19.606 8 24 09 19q13.12 HKR1 P GLI-Kruppel family member HKR1 (oncogene HKR1) 165250 REa, REc
19.607 8 5 11 19q13.12 IGFLR1, TMEM149 P IGF-like family receptor 1 614143 REc
19.608 9 30 15 19q13.12 LSR P Lipolysis-stimulated lipoprotein receptor 616582 REc
19.609 6 1 15 19q13.12 PRODH2, HYPDH P Proline dehydrogenase (oxidase) 2 616377 REc
19.610 2 21 10 19q13.12 RBM42 P RNA-binding motif protein 42 613232 REc
19.611 11 22 13 19q13.12 SYNE4, NESP4, C19orf46, DFNB76 P Spectrin repeat-containing nuclear envelope protein 4 615535 REc Deafness, autosomal recessive 76, 615540 (3)
19.612 1 20 09 19q13.12 THAP8 P THAP domain-containing protein 8 612536 REc
19.613 6 8 11 19q13.12 WDR62, C19orf14, MCPH2 C WD repeat-containing protein 62 613583 REc, Fd Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
19.614 9 2 12 19q13.11 WTIP P WT1-interacting protein 614790 REc
19.615 1 26 17 19q13.12 ZFP30, ZNF745, KIAA0961 P Zinc finger protein 30, mouse, homolog of 617317 REc, H 7(Zfp30)
19.616 2 21 11 19q13.12 ZNF260, PEX1 P Zinc finger protein 260 613749 REc, H 7(Zfp260)
19.617 11 23 16 19q13.12 ZNF420, APAK P Zinc finger protein 420 617216 REc
19.618 10 5 11 19q13.12 ZNF565 P Zinc finger protein 565 614275 REc
19.619 7 11 17 19q13.12 ZNF568, ZFP568 P Zinc finger protein 568 617566 REc
19.620 5 16 11 19q13.12 ZNF569 P Zinc finger protein 569 613904 REc
19.621 3 29 00 19q13.2 ARHGEF1, LBCL2 P Rho guanine nucleotide exchange factor, 115-kD 601855 R
19.622 1 10 07 19q13.12 HSPB6, HSP20 P Heat-shock 27kD protein 6 610695 REc
19.623 2 11 13 19q13.2 IFNL1, IL29 P Interferon, lambda 1 607403 REc
19.624 2 11 13 19q13.2 IFNL2, IL28A P Interferon, lambda 2 607401 REc
19.625 2 11 13 19q13.2 IFNL3, IL28B P Interferon, lambda 3 607402 REc {Hepatitis C virus infection, response to therapy of}, 609532 (3)
19.626 3 14 13 19q13.2 IFNL4 P Interferon, lambda-4 615090 REc
19.627 1 26 12 19q13.12 ZNF382, KS1 P Zinc finger protein 382 609516 REc
19.628 11 18 16 19q13.2 SELENOV, SELV P Selenoprotein V 607919 REc
19.629 10 11 07 19q13.2 SPRED3 P Sprouty-related EVH1 domain-containing protein 3 609293 REc 7(Spred3)
19.630 7 10 17 19q13.2 SPTBN4, QV, CMND C Spectrin, beta, nonerythrocytic, 4 (quivering, mouse, homolog of) 606214 R, A mutation identified in 1 CMND patient ?Myopathy, congenital, with neuropathy and deafness, 617519 (3) 7(Spnb4)
19.631 5 13 11 19q13.12 ZNF540 P Zinc finger protein 540 613903 REc
19.632 1 1 96 19q13.2 BLVRB, BVRB, FLR P Biliverdin reductase B 600941 A
19.633 12 18 08 19q13.2 DPF1, NEUD4 C D4, zinc, and double PHD fingers family, member 1 601670 REa, REc
19.634 2 1 00 19q13.2 NUMBL, NUMBR, NBL P Numb, Drosophila, homolog-like 604018 Fd
19.635 10 25 16 19q13.33 GRIN2D, NMDAR2D, EIEE46 P Glutamate receptor, ionotropic, N-methyl-D-aspartate 2D 602717 R Epileptic encephalopathy, early infantile, 46, 617162 (3)
19.636 3 26 07 19q13.12 APLP1, APLP C Amyloid beta (A4) precursor-like protein-1 104775 REa
19.637 10 16 95 19q13.32 APOC4 P Apolipoprotein C-IV 600745 REn 555bp upstream of APOC2
19.638 2 15 17 19q13.32 APOE, AD2, LPG, LDLCQ5 C Apolipoprotein E 107741 F, REa, LD, A, Fd possible 2nd locus for AD2 on chr.19 Hyperlipoproteinemia, type III, 617347 (3); Sea-blue histiocyte disease, 269600 (3); Alzheimer disease-2, 104310 (3); {?Macular degeneration, age-related}, 603075 (3); Lipoprotein glomerulopathy, 611771 (3); {Coronary artery disease, severe, susceptibility to}, 617347 (3) 7(Apoe)
19.639 4 25 93 19q13.32 APOC1 C Apolipoprotein C-I 107710 REa, RE, A
19.640 10 29 03 19q13.32 APOC2 C Apolipoprotein C-II 608083 REa, F, LD, A, Fd Hyperlipoproteinemia, type Ib, 207750 (3)
19.641 12 22 16 19q13.2 ATP5SL P ATP5S-like protein 617262 REc
19.642 11 15 17 19q13.2 B9D2, MKS10, JBTS34 P B9 domain-containing protein 2 611951 REc mutation identified in 1 MKS10 family ?Meckel syndrome 10, 614175 (3); Joubert syndrome 34, 614175 (3) 7(B9d2)
19.643 8 7 13 19q13.2 B3GNT8, BGALT15, B3GALT7 P Beta-1,3-galactosyltransferase 8 615357 REc 7(B3gnt8)
19.644 6 27 17 19q13.31 CADM4, IGSF4C, TSLL2, NECL4, SYNCAM4 P Cell adhesion molecule 4 609744 A, H 7(Igsf4c)
19.645 2 16 04 19q13.32 CBLC C CAS-BR-M murine ecotropic retroviral transforming sequence C 608453 Psh, R, A
19.646 8 28 17 19q13.2 CCER2 P Coiled-coil glutamate-rich protein 2 617634 REc
19.647 1 6 00 19q13.2 CEACAM1, BGP C Carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 109770 H, REn in CEA cluster 7(Bgp1)
19.648 1 6 00 19q13.2 CEACAM5, CEA C Carcinoembryonic antigen-related cell adhesion molecule 5 114890 REa, A, REc proximal to PSG cluster in 1.1-1.2Mb segment
19.649 1 6 00 19q13.2 CEACAM6, NCA C Carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific crossreacting antigen) 163980 REa, A, REn in CEA cluster
19.650 5 22 14 19q13.2 CEACAM8, CD66B, CGM6 P Carcinoembryonic antigen-related cell adhesion molecule 8 615747 REc
19.651 8 2 17 19q13.2 CIC, KIAA0306, MRD45 P Capicua, Drosophila, homolog of 612082 REc Mental retardation, autosomal dominant 45, 617600 (3)
19.652 8 26 03 19q13.2 CYP2A7 P Cytochrome P450, subfamily IIA, polypeptide 7 608054 REc
19.653 8 26 03 19q13.2 CYP2A13 P Cytochrome P450, subfamily IIA, polypeptide 13 608055 REc
19.654 9 26 17 19q13.2 CYP2G1 P Cytochrome P450, subfamily IIG, polypeptide 1 601133 REc
19.655 1 5 09 19q13.2 CYP2S1 P Cytochrome P450, family 2, subfamily S, polypeptide 1 611529 REc
19.656 8 17 16 19q13.2 DEDD2, FLAME3 P Death effector domain-containing protein 2 617078 REc
19.657 9 10 12 19q13.2 DMRTC2 P Doublesex- and MAB3-related transcription factor C2 614806 REc
19.658 2 24 17 19q13.2 EID2, CRI2 P EP300-interacting inhibitor of differentiation 2 609773 REc, R 7(Cri2)
19.659 8 24 09 19q13.2 EGLN2, PHD1, HIFPH1 P Egl9, C. elegans, homolog of, 2 606424 R, REc
19.660 6 1 12 19q13.2 EXOSC5, RRP46 P Exosome component 5 606492 REc
19.661 9 29 10 19q13.2 FBL P Fibrillarin 134795 REc
19.662 9 9 08 19q13.2 FBXO17, FBX17, FBX26, FBG4 C F-box only protein 17 609094 REc 7(Fbxo17)
19.663 9 9 08 19q13.2 FBXO27, FBX27, FBG5 C F-box only protein 27 609099 REc 7(Fbxo27)
19.664 6 28 17 19q13.2 FCGBP P Fc fragment of IgG-binding protein 617553 REc
19.665 8 1 14 19q13.2 NCCRP1, FBXO50 P Nonspecific cytotoxic cell receptor protein 1, zebrafish, homolog of 615901 REc
19.666 2 4 00 19q13.2 GMFG P Glia maturation factor, gamma 604104 REn
19.667 11 11 14 19q13.2 HNRNPL, HNRPL P Heterogeneous nuclear riboprotein 1 603083 REc
19.668 8 24 09 19q13.2 HNRNPUL1, HNRPUL1, E1BAP5 P Heterogeneous nuclear ribonucleoprotein U-like 1 605800 R, REc
19.669 9 21 17 19q13.2 LGALS7B P Lectin, galactoside-binding, soluble, 7B 617139 REc
19.670 7 15 09 19q13.2 LRFN1, SALM2, KIAA1484 P Leucine-rich repeat and fibronectin type III domain-containing protein 1 612807 REc
19.671 7 15 09 19q13.12 LRFN3, SALM4 P Leucine-rich repeat and fibronectin type III domain-containing protein 3 612809 REc, H 7(Lrfn3)
19.672 12 20 01 19q13.32 MARK4, KIAA1860, MARKL1 P Map/microtubule affinity-regulating kinase-4 606495 REc
19.673 7 22 09 19q13.2 MED29, IXL P Mediator complex subunit 29 612914 REc
19.674 10 4 02 19q13.31 NB1, PRV1, CD177, HNA2A P Neutrophil-specific antigen 1 162860 REc
19.675 11 16 17 19q13.2 PLD3, HUK4, SCA46 P Phospholipase D family, member 3 615698 REc mutation identified in 1 SCA46 family ?Spinocerebellar ataxia 46, 617770 (3)
19.676 8 24 09 19q13.2 POU2F2, OTF2, OCT2 P POU domain, class 2, transcription factor 2 164176 REa, REc 7(Otf2)
19.677 1 6 00 19q13.2 PSG10, PSG12 P Pregnancy-specific beta-1-glycoprotein-10 176399 A
19.678 1 6 00 19q13.31 PSG11, PSG13, PSG14 P Pregnancy-specific beta-1-glycoprotein-11 176401 A
19.679 8 2 10 19q13.2 CD79A, IGA P CD79A antigen (immunoglobulin-associated alpha) 112205 Psh Agammaglobulinemia 3, 613501 (3)
19.680 5 8 07 19q13.2 CYP2A6, CYP2A3, CYP2A, P450C2A C Cytochrome P450, subfamily IIA, phenobarbital-inducible, polypeptide 6 122720 REa, A, Fd, REn Coumarin resistance, 122700 (3); {Nicotine addiction, protection from}, 188890 (3); {Lung cancer, resistance to}, 211980 (3) 7(Cyp2a)
19.681 4 2 12 19q13.2 CYP2B6, CYP2B, EFVM C Cytochrome P450, family 2, subfamily B, polypeptide 6 123930 REa, REn, Fd, Psh same NotI fragment as CYP2A Efavirenz, poor metabolism of, 614546 (3); {Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3) 7(Cyp2b)
19.682 4 25 93 19q13.2 CYP2F1 C Cytochrome P450, subfamily IIF, polypeptide 1 124070 Fd, REa, A, REn CYP2A, CYP2B, CYP2F1 in 240kb 7(Cyp2f1)
19.683 10 3 07 19q13.2 EIF3K, PLAC24, EIF3S12 P Eukaryotic translation initiation factor 3, subunit K 609596 REc
19.684 3 24 06 19q13.2 GGN P Gametogenetin, mouse, homolog of 609966 R, REc 7(Ggn)
19.685 1 12 95 19q13.2 GRIK5 P Glutamate receptor, ionotropic, kainate 5 600283 REa, A 7(Grik5)
19.686 3 24 06 19q13.32 HIF3A, IPAS C Hypoxia-inducible factor 3, alpha subunit 609976 REc
19.687 1 4 08 19q13.2 HIPK4 P Homeodomain-interacting protein kinase 4 611712 REc
19.688 2 11 08 19q13.2 ITPKC C Inositol 1,4,5-trisphosphate 3-kinase C 606476 R, REc, Fd {Kawasaki disease, susceptibility to}, 611775 (3)
19.689 12 11 15 19q13.31 KCNN4, KCA4, SK4, DHS2 P Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 602754 A Dehydrated hereditary stomatocytosis 2, 616689 (3)
19.690 4 18 05 19q13.2 LGALS4 P Lectin, galactoside-binding, soluble, 4 602518 REc
19.691 4 18 05 19q13.2 LGALS7 P Lectin, galactoside-binding, soluble, 7 (galectin 7) 600615 REa, REc
19.692 1 8 01 19q13.42 LILRA1, LIR6 P Leukocyte immunoglobulin-like receptor, subfamily A, member 1 604810 R
19.693 1 8 01 19q13.42 LILRB5, LIR8 P Leukocyte immunoglobulin-like receptor, subfamily B, member 5 604814 R
19.694 7 16 09 19q13.32 LU, AU, BCAM C B-cell adhesion molecule 612773 F, H linked to SE [Blood group, Lutheran system], 111200 (3); [Blood group, Auberger system], 111200 (3); [Blood group, Lutheran null], 247420 (3) 7(lu)
19.695 6 28 17 19q13.32 NECTIN2, PVRL2, HVEB, PVRR2, PRR2 C Nectin 2 600798 REc, A
19.696 10 30 06 19q13.2 PAF1, PD2 P PAF1 RNA polymerase II-associated factor, S. cerevisiae, homolog of 610506 Psh, REc
19.697 8 24 09 19q13.2 PAK4 P p21-activated kinase 4 605451 R, REc
19.698 7 11 11 19q13.2 PAPL, FLJ16165 P Purple acid phosphatase, long form 610490 REc
19.699 10 7 02 19q13.2 PPL13 P Placental protein 13-like protein 607260 REc
19.700 8 20 07 19q13.33 PPP1R15A, GADD34 P Protein phosphatase 1, regulatory subunit 15A 611048 A, REc
19.701 8 24 09 19q13.2 PRA1 P Prenylated RAB acceptor 1 604925 R, REc
19.702 7 11 11 19q13.31 PRG1 P p53-responsive gene 1 605157 REc
19.703 3 1 01 19q13.2 PSG1, PSBG1, B1G1, SP1 C Pregnancy-specific beta-1-glycoprotein-1 176390 REa, REc distal to CEA
19.704 4 25 93 19q13.31 PSG2, PSBG2 C Pregnancy-specific beta-1-glycoprotein-2 176391 RE, A
19.705 6 13 95 19q13.2 PSG3 P Pregnancy-specific beta-1-glycoprotein-3 176392 A
19.706 3 1 01 19q13.31 PSG4 C Pregnancy-specific beta-1-glycoprotein-4 176393 REa, REc
19.707 3 1 01 19q13.31 PSG5 C Pregnancy-specific beta-1-glycoprotein-5 176394 REa, REc
19.708 3 1 01 19q13.31 PSG6 C Pregnancy-specific beta-1-glycoprotein-6 176395 REa, REc
19.709 3 1 01 19q13.31 PSG7 C Pregnancy-specific beta-1-glycoprotein-7 176396 REa, REc
19.710 3 1 01 19q13.2 PSG8 C Pregnancy-specific beta-1-glycoprotein-8 176397 REa, REc
19.711 1 6 00 19q13.31 PSG9, PSG11 P Pregnancy-specific beta-1-glycoprotein-9 176398 A
19.712 1 23 18 19q13.2 PSMD8 P Proteasome 26S subunit, non-ATPase, 8 617844 REc
19.713 8 9 99 19q13.2 RPS19, DBA, DBA1 C Ribosomal protein S19 603474 Ch, Fd, D, REc Diamond-Blackfan anemia 1, 105650 (3)
19.714 3 31 11 19q13.2 SARS2 P Seryl-tRNA synthetase 2 612804 REc Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)
19.715 1 25 18 19q13.2 SERTAD1, TRIPBR1 P SERTA domain-containing protein 1 617850 REc
19.716 2 2 17 19q13.2 SHKBP1, SB1 P SH3KBP1-binding protein 1 617322 REc
19.717 8 24 09 19q13.33 SPHK2 P Sphingosine kinase 2 607092 R, REc
19.718 1 11 07 19q13.2 TEC P Transient erythroblastopenia of childhood 227050 Fd Transient erythroblastopenia of childhood (2)
19.719 10 10 17 19q13.2 TIMM50, TIM50, MGCA9 P Translocase of inner mitochondrial membrane 50, yeast, homolog of 607381 REc 3-methylglutaconic aciduria, type IX, 617698 (3)
19.720 8 29 03 19q13.32 TOMM40, TOM40, PEREC1 P Translocase of outer mitochondrial membrane 40, yeast, homolog of 608061 REc
19.721 7 7 14 19q13.12 U2AF1L4, U2AF1RS3 P U2 small nuclear RNA auxillary factor 1-like 4 601080 A
19.722 8 27 17 19q13.31 XRCC1, SCAR26 C X-ray-repair, complementing defective, repair in Chinese hamster cells-1 194360 S, A mutation identified in 1 SCAR26 patient ?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3) 7(Xrcc1)
19.723 8 7 00 19q13.31 ZFP93, ANF270, HZF6 P Zinc finger protein 93, mouse, homolog of 604749 REc 7(Zfp93)
19.724 2 7 07 19q13.31 ZNF45, ZNF13, KOX5 P Zinc finger protein-45 194554 REc, A
19.725 3 6 02 19q13.31 ZNF180 P Zinc finger protein-180 606740 A
19.726 3 6 02 19q13.11 ZNF181 P Zinc finger protein-181 606741 A
19.727 2 24 17 19q13.31 ZNF222 P Zinc finger protein 222 617357 REc
19.728 12 19 11 19q13.2 ZNF526, KIAA1951 P Zinc finger protein 526 614387 REc
19.729 2 12 13 19q13.32 AP2S1, CLAPS2, AP17, HHC3 C Adaptor-related protein complex 2, sigma 1 subunit 602242 A Hypocalciuric hypercalcemia, type III, 600740 (3)
19.730 3 2 00 19q13.33 CA11, CARP2 P Carbonic anhydrase XI 604644 A
19.731 7 13 93 19q13.32 CALM3 C Calmodulin-3 114183 REa, Psh, A
19.732 4 27 12 19q13.32 CD3EAP, ASE1, PAF49 P CD3-epsilon-associated protein 107325 REc
19.733 11 3 00 19q13.32 DMPK, DM, DMK C Dystrophia myotonica-protein kinase 605377 F, Fd distal to APOLP2; distal to CKM Myotonic dystrophy 1, 160900 (3) 7(Dm15)
19.734 2 20 07 19q13.32 ERCC1, UV20, COFS4 C Excision repair cross complementing rodent repair deficiency, complementation group-1 126380 S, RE, Fd, A distal to CKM Cerebrooculofacioskeletal syndrome 4, 610758 (3)
19.735 6 2 15 19q13.32 ERCC2, EM9, XPD, COFS2, TTD1 C Excision repair cross complementing rodent repair deficiency, complementation group-2 126340 S, RE, M < 250kb from ERCC1; mutation identified in 1 COFS2 patient Xeroderma pigmentosum, group D, 278730 (3); Trichothiodystrophy 1, photosensitive, 601675 (3); ?Cerebrooculofacioskeletal syndrome 2, 610756 (3) 7(Ercc2)
19.736 2 15 96 19q13.32 GPR4 P G protein-coupled receptor-4 600551 A
19.737 1 12 06 19q13.32 KLC3, KLC2L P Kinesin, light chain, 3 601334 REn
19.738 4 25 93 19q13.33 LIG1 C Ligase I, DNA, ATP-dependent 126391 REa, A DNA ligase I deficiency (3) 7(Lig1)
19.739 6 13 07 19q13.2-q13.3 MRT11 P Mental retardation, autosomal recessive, 11 611097 Fd between rs2109075 and rs8101149 Mental retardation, autosomal recessive, 11 (2)
19.740 6 28 99 19q13.32 NPAS1, MOP5 P Neuronal PAS domain protein 1 603346 Psh, R, H 7(Npas1)
19.741 9 9 11 19q13.32 OPA3, MGA3 C OPA3 gene 606580 Fd, REc 3-methylglutaconic aciduria, type III, 258501 (3); Optic atrophy 3 with cataract, 165300 (3)
19.742 5 2 11 19q13.31 PVR, PVS C Polio virus receptor 173850 S, A, REa 9(Pvs)
19.743 9 10 09 19q13.2 RAB4B P Ras-associated protein RAB4B 612945 R
19.744 10 27 10 19q13.2-q13.3 TRNAU1, TRSP C Transfer RNA selenocysteine 1 (anticodon UCA) 165060 REa, A, Fd pseudogene on 22 7(Trsp)
19.745 3 31 97 19q13.32 VASP P Vasodilator-stimulated phosphoprotein 601703 A
19.746 4 17 14 19q13.32 CCDC8, 3M3 P Coiled-coil domain-containing protein 8 614145 REc 3-M syndrome 3, 614205 (3)
19.747 6 19 00 19q13.31 ZNF155 P Zinc finger protein-155 604086 A
19.748 6 4 99 19q13.2-q13.4 CFM1 P Cystic fibrosis modifier-1 603855 Fd {Meconium ileus in cystic fibrosis, susceptibility to} (2) 7(Cfm1)
19.749 9 18 02 19q13.32 FOXA3, HNF3G P Forkhead box A3 (hepatocyte nuclear factor-3, gamma) 602295 A 7(Hnf3g)
19.750 3 19 01 19q13.32 GRLF1, P190A P Glucocorticoid receptor DNA-binding factor 1 605277 REa, A, R
19.751 9 15 96 19q13.33 NUCB1 P Nucleobindin 1 601323 Psh, A
19.752 8 22 14 19p13.11 PIK3R2, MPPH1 P Phosphatidylinositol 3-kinase, regulatory subunit 2 603157 A Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
19.753 4 25 93 19q13.43 ZNF42, MZF1 P Zinc finger protein-42 (myeloid-specific retinoic acid responsive) 194550 A, REb
19.754 2 7 07 19q13.31 ZNF224, ZNF255, BMZF2, KOX22, ZNF27 P Zinc finger protein-224 194555 REc, A
19.755 9 18 00 19q13.33 AP2A1, CLAPA1, ADTAA P Adaptor-related protein complex 2, alpha 1 subunit 601026 REc match to PAC AC006942
19.756 6 3 02 19p13.13 ASNA1, ARSA1 P arsA arsenite transporter, ATP-binding, E. coli, homolog of, 1 601913 Psh 8(Asna1)
19.757 8 24 09 19q13.33 ATF5, ATFX P Activating transcription factor 5 606398 R, REc
19.758 3 12 07 19q13.33 BCL2L12 P BCL2-like 12 610837 REc
19.759 12 10 08 19q13.33 CARD8, TUCAN, KIAA0955, NDPP1 P Caspase recruitment domain-containing protein 8 609051 REc
19.760 2 8 13 19q13.33 CCDC114, CILD20 P Coiled-coil domain-containing protein 114 615038 REc Ciliary dyskinesia, primary, 20, 615067 (3)
19.761 7 18 14 19q13.32 CLPTM1 P Cleft lip and palate-associated transmembrane protein 1 604783 REc
19.762 9 9 11 19q13.33 CRX, CORD2, CRD, LCA7 C Cone-rod homeo box-containing gene 602225 Fd Cone-rod retinal dystrophy-2, 120970 (3); Leber congenital amaurosis 7, 613829 (3)
19.763 8 30 07 19q13.32 DACT3 C Dapper, antagonist of beta-catenin, 3 611112 R, REn 7(Dact3)
19.764 2 15 96 19q13.33 DBP C D site of albumin promoter binding protein 124097 REa, A, REc 7(Dbp)
19.765 3 20 06 19q13.32 DMWD, DMRN9 P Dystrophia myotonica WD repeat-containing protein 609857 REc
19.766 5 2 01 19q13.33 EHD2 C EH domain-containing 2 605890 REc
19.767 10 20 99 19q13.33 EMP3 P Epithelial membrane protein 3 602335 A, REa, R 7(Emp3)
19.768 8 25 03 19q13.41 ETFB, MADD C Electron transfer flavoprotein, beta polypeptide 130410 REa, A Glutaric acidemia IIB, 231680 (3) 7(Etfb)
19.769 9 9 08 19q13.32 FBXO46, FBX46 P F-box only protein 46 609117 R, REc 7(Fbxo46)
19.770 9 23 96 19q13.33 FCGRT P Fc fragment of IgG, receptor, transporter, alpha 601437 A
19.771 11 10 10 19q13.32 FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5 C Fukutin-related protein 606596 R Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3); Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3)
19.772 6 11 92 19q13.32 FOSB P Oncogene FOS-B 164772 REn 7(Fosb)
19.773 1 14 16 19q13.33 FUT1, H, HH C Fucosyltransferase-1 (Bombay phenotype) 211100 F, Fd SE tightly linked [Bombay phenotype], 616754 (3)
19.774 1 24 09 19q13.33 FUT2, SE, B12QTL1 C Fucosyltransferase-2 (secretor) 182100 F, Fd H, SE = alpha-L-fucosyltransferases; from common ancestral genes; tightly linked to FUT1 {Norwalk virus infection, resistance to} (3); [Bombay phenotype] (3); {Vitamin B12 plasma level QTL1}, 612542 (3)
19.775 7 8 10 19q13.32 GIPR, PGQTL2 C Gastric inhibitory polypeptide receptor 137241 A, Fd [Plasma glucose, 2-hour, QTL 2] (2)
19.776 2 28 01 19q13.33 GLTSCR1 P Glioma tumor suppressor candidate region gene 1 605690 D
19.777 2 28 01 19q13.33 GLTSCR2 P Glioma tumor suppressor candidate region gene 2 605691 D
19.778 11 5 98 19q13.33 GPR32 P G protein-coupled receptor-32 603195 A
19.779 11 30 06 19q13.33 GRWD1, GRWD, KIAA1942 P Glutamate-rich WD repeat-containing protein 1 610597 REc
19.780 11 13 07 19q13.33 GYS1, GYS C Glycogen synthase 138570 REa, A Glycogen storage disease 0, muscle, 611556 (3)
19.781 1 25 91 19q13.33 HRC P Histidine-rich calcium-binding protein 142705 REa, A, H
19.782 9 5 02 19q13.33 KCNA7 C Potassium voltage-gated channel, shaker-related subfamily, member 7 176268 REa, A 7(Kcna7)
19.783 7 7 15 19q13.33 MED25, PTOV2, ARC92, CMT2B2, BVSYS P Mediator of RNA polymerase II transcription, subunit 25, S. cerevisiae, homolog of 610197 Fd, REc mutation identified in 1 CMT2B2 family ?Charcot-Marie-Tooth disease, type 2B2, 605589 (3); Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)
19.784 2 24 04 19q13.32-q13.33 NAPA, SNAPA P N-ethylmaleimide-sensitive factor attachment protein, alpha 603215 H, REc 7(hyh)
19.785 9 8 17 19q13.32 NOVA2, ANOVA P NOVA alternative splicing regulator 2 601991 REf
19.786 5 17 95 19q13.33 NR1H2, UNR P Nuclear receptor subfamily 1, group H, member 2 (ubiquitously-expressed nuclear receptor) 600380 A
19.787 10 3 09 19q13.33 NTF4 , NTF5, NT5, NT4, GLC1O C Neurotrophin-4 (neurotrophin-4/5) 162662 REa, A 3 genes, ? functional, also on 19 Glaucoma 1, open angle, 1O, 613100 (3) 7(Ntf5)
19.788 8 24 09 19q13.33 PLA2G4C P Phospholipase A2, group IVC 603602 REc
19.789 4 10 96 19q13.32 PPP5C, PP5 P Protein phosphatase-5, catalytic subunit 600658 Psh, A
19.790 8 24 09 19q13.32 PRKD2, PKD2 P Protein kinase D2 607074 R, REc
19.791 6 13 95 19q13.32 PTGIR P Prostaglandin I2 (prostacyclin) receptor (IP) 600022 A, REa 7(Ptgir)
19.792 2 28 03 19q13.32 RSHL1 P Radial spokehead-like 1 607548 REc
19.793 3 29 12 19q13.32 RTN2, NSPL1, SPG12 P Reticulon-2 603183 REc Spastic paraplegia 12, autosomal dominant, 604805 (3)
19.794 2 20 01 19q13.33 RUVBL2, TIP48, ECP51 C RUVB, E. coli, homolog-like 2 (TATA box-binding protein-interacting protein) 604788 REn, R 7(Ruvbl2)
19.795 12 22 16 19q13.33 SCAF1 P SR-related C-terminal domain-associated factor 1 617264 REc
19.796 11 17 16 19q13.33 SELENOW, SEPW1 P Selenoprotein W 603235 REc
19.797 10 20 99 19q13.41 SIGLEC5, CD33L2, OBBP2 C Sialic acid-binding Ig-like lectin 5 604200 A, REa, R
19.798 2 7 01 19q13.41 SIGLEC6, CD33L, CD33L1, OBBP1 P Sialic acid-binding immunoglobulin-like lectin 6 604405 A
19.799 2 1 00 19q13.41 SIGLEC7, AIRM1 P Sialic acid-binding immunoglobulin-like lectin 7 604410 REa, REn
19.800 4 17 07 19q13.32 SIX5, DMAHP, BOR2 P Sine oculis homeo box, Drosophila, homolog of, 5 600963 REn Branchiootorenal syndrome 2, 610896 (3)
19.801 4 28 17 19q13.33 SNRP70, U1RNP, RNPU1Z, RPU1 C Small nuclear ribonucleoprotein, U1 subunit, 70kD 180740 REa, A
19.802 6 4 99 19q13.32 SLC1A5, RDRC, M7V1, M7VS1 C Solute carrier family 1 (neutral amino acid transporter), member 5 (receptor for RD114/simian type D retroviruses) 109190 A, Fd, R
19.803 2 25 98 19q13.32 SPK P Symplekin 602388 REc
19.804 8 18 99 19q13.33 SULT2A1, STD C Sulfotransferase family 2A, dehydroepiandrosterone-preferring, member 1 (DHEA sulfotransferase) 125263 A, Psh, Fd
19.805 7 13 17 19q13.33 SULT2B1, ARCI14 P Sulfotransferase family 2B, member 1 604125 A, Psh Ichthyosis, congenital, autosomal recessive 14, 617571 (3)
19.806 1 5 04 19q13.33 SYNGR4 P Synaptogyrin 4 608373 REc
19.807 6 28 99 19q13.33 TEAD2, TEF4 P TEA domain family member 2 601729 A, R
19.808 11 16 98 19p13.3 ZIPK P ZIP kinase 603289 Psh, R, A
19.809 6 22 14 19q13.33 BAX C BCL2-associated X protein 600040 REa, A, REc Colorectal cancer, somatic, 114500 (3); T-cell acute lymphoblastic leukemia, somatic, 613065 (3) 7(Bax)
19.810 9 16 16 19q13.32 C5AR1, C5R1, C5AR P Complement component 5a receptor 1 113995 REa, REc
19.811 4 25 93 19q13.41 CD33 C CD33 antigen (gp67) 159590 REa, A
19.812 8 24 09 19q13.41 FPR2, FPRL1, FPRH1, LXA4R, HM63 P Formyl peptide receptor 2 136538 REa, REc
19.813 8 24 09 19q13.41 FPR3, FPRL2, FPRH2 P Formyl peptide receptor 3 136539 REa, REc
19.814 1 15 14 19q13.33 FTL, NBIA3, LFTD C Ferritin, light chain 134790 S, A, REa, REb Hyperferritinemia-cataract syndrome, 600886 (3); Neurodegeneration with brain iron accumulation 3, 606159 (3); L-ferritin deficiency, dominant and recessive, 615604 (3) 7(Ftl1)
19.815 6 28 99 19q13.41 HAS1 C Hyaluronan synthase 1 601463 Psh, REc, A 17(Has1)
19.816 12 28 08 19q13.33 IL4I1, FIG1 P Interleukin 4-induced gene 1 609742 REn
19.817 8 11 91 19q13.42 IL11 P Interleukin-11 147681 A
19.818 3 14 18 19q13.33 IRF3, IIAE7 P Interferon regulatory factor 3 603734 Fd, REc {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3)
19.819 5 2 06 19q13.33 KCNC3, SCA13 C Potassium voltage-gated channel, Shaw-related subfamily, member 3 176264 REa, A, Fd, H Spinocerebellar ataxia 13, 605259 (3) 7(Kcnc3)
19.820 9 9 13 19q13.33 POLD1, CRCS10, MDPL C Polymerase (DNA directed), delta 1, catalytic subunit 174761 Psh, REa, A {Colorectal cancer, susceptibility to, 10}, 612591 (3); Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3) 7(Pold1)
19.821 3 3 10 19q13.42 PPP1R12C, MBS85 P Protein phosphatase 1, regulatory subunit 12C 613245 REc
19.822 8 19 13 19q13.33 PTOV1, ACID2 P Prostate tumor overexpressed gene 1 610195 A
19.823 8 27 02 19q13.33 SIGLEC11 P Sialic acid-binding immunoglobulin-like lectin 11 607157 REc pseudogene 8kb upstream
19.824 5 6 03 19q13.33 SPIB P SPIB transcription factor 606802 A
19.825 10 15 94 19q13.41 ZNF83 P Zinc finger protein-83 194558 A
19.826 6 19 00 19q13.41 ZNF137 P Zinc finger protein-137 604079 A
19.827 3 27 95 19q13.41-q13.42 ZNF160 P Zinc finger protein-160 600398 A
19.828 11 6 01 19q13.41 ZNF320 P Zinc finger protein 320 606427 REc
19.829 6 20 01 19q13.42 ZNF331, ZNF463 P Zinc finger protein-331 606043 A
19.830 8 24 09 19q13.33 RRAS P Oncogene RRAS 165090 REa, REc 7(Rras)
19.831 5 2 16 19q13.31 C19orf61, SMG9, HBMS P Chromosome 19 open reading frame 61 613176 REc Heart and brain malformation syndrome, 616920 (3)
19.832 6 1 16 19q13.31-q13.32 CEACAM16, CEAL2, DFNA4B P Carcinoembryonic antigen-related cell adhesion molecule 16 614591 REc Deafness, autosomal dominant 4B, 614614 (3)
19.833 3 23 09 19q13.31 TEX101, SGRG, TES101RP P Testis-expressed gene 101 612665 R, REc
19.834 9 27 17 19q13.31 ZNF234, ZNF269, HZF4 P Zinc finger protein 234 604750 REc
19.835 9 2 08 19q13.33 BSPH1 P Bovine seminal plasma protein-like 1 612213 REc 7(Bsph1)
19.836 10 23 87 19q13.33 CGB C Chorionic gonadotropin, beta polypeptide 118860 REa, H, A at least 5 genes 7(Cgb)
19.837 10 17 13 19q13.32 DHX34, KIAA0134 C DEAH box polypeptide 34 615475 REc, R
19.838 5 30 17 19q13.32 EML2, EMAP2, ELP70 P Echinoderm microtubule-associated protein-like 2 617494 REc
19.839 2 10 04 19q13.31 ETHE1, HSCO, D83198 P ETHE1 gene 608451 REc Ethylmalonic encephalopathy, 602473 (3)
19.840 4 27 16 19q13.32 EXOC3L2, XTP7 C Exocyst complex component 3-like 2 616927 REc 7(Exoc3l2)
19.841 8 24 09 19q13.32 GEMIN7 P GEM-associated protein 7 607419 R, REc
19.842 7 23 13 19q13.32 IRF2BP1 P Interferon regulatory factor 2-binding protein 1 615331 REc
19.843 3 27 15 19q13.33 LHB, HH23 C Luteinizing hormone, beta polypeptide 152780 RE beta chains of FSH, TSH on 11p, 1p, respectively Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3) 7(Lhb)
19.844 1 31 18 19q13.32 MYPOP P MYB-related transcription factor, partner of profilin 617861 REc
19.845 9 23 13 19q13.32 NANOS2, NOS2 P Nanos, Drosophila, homolog of, 2 608228 REc
19.846 2 24 15 19q13.32 PPP1R13L, RAI, IASPP, NKIP1 P Protein phosphatase 1, regulatory subunit 13-like 607463 REc 7(Ppp1r13l)
19.847 7 24 17 19q13.32 RELB, IREL, IMD53 P v-rel avian reticuloendotheliosis viral oncogene homolog B 604758 REc mutation identified in 1 IMD53 family ?Immunodeficiency 53, 617585 (3)
19.848 3 15 10 19q13.32 SAE1, SUA1, AOS1 P SUMO1-activating enzyme, subunit 1 613294 REc
19.849 2 1 11 19q13.32 SLC8A2, NCX2 P Solute carrier family 8, member 2 (sodium-calcium exchanger 2) 601901 REc 7(Slc8a2)
19.850 11 11 14 19q13.32 SNRPD2 P Small nuclear ribonucleoprotein polypeptide D2 601061 REc
19.851 8 21 12 19q13.32 STRN4, ZIN P Striatin, calmodulin-binding protein 4 614767 REc, A
19.852 8 19 13 19q13.33 TPRX1 P Tetrapeptide repeat homeobox 1 611166 REc
19.853 8 19 13 19q13.32 TRAPPC6A P Trafficking protein particle complex, subunit 6A 610396 R, REc 7(Trappc6a)
19.854 6 7 10 19q13.33 TRPM4, PFHB1B P Transient receptor potential cation channel, subfamily M, member 4 606936 REc Progressive familial heart block, type IB, 604559 (3)
19.855 2 21 10 19q13.32 ZNF296, ZFP296, ZNF342 C Zinc finger protein 296 613226 REc, R, H 7(Znf296)
19.856 1 8 97 19q13.2 MIA P Melanoma inhibitory activity 601340 A
19.857 6 7 10 19q13.33 ALDH16A1 P Aldehyde dehydrogenase 16 family, member A1 613358 REc
19.858 9 10 14 19q13.33 CABP5, CABP3 P Calcium-binding protein 5 607315 A
19.859 9 16 12 19q13.33 CGB1 P Chorionic gonadotropin, beta polypeptide 1 608823 REc
19.860 9 16 12 19q13.33 CGB7, CGB6 P Chorionic gonadotropin, beta polypeptide 7 608826 REc
19.861 3 28 15 19q13.33 CPT1C, SPG73 P Carnitine palmitoyltransferase IC 608846 REc mutation identified in 1 SPG73 family ?Spastic paraplegia 73, autosomal dominant, 616282 (3)
19.862 7 25 16 19q13.41 CTU1, ATPBD3 P Cytothiouridylase subunit 1 612694 REc
19.863 8 24 09 19q13.33 DKKL1, SGY1, SGY P Dickkopf-like 1 605418 REc
19.864 6 13 12 19q13.33 ELSPBP1 P Epididymal sperm binding protein 1 607443 REc
19.865 2 25 15 19q13.33 EMC10, C19orf63, HSS1, HSM1 P ER membrane protein complex subunit 10 614545 REc
19.866 9 26 17 19q13.33 FLT3LG, FLG3L P FMS-related tyrosine kinase 3 ligand 600007 REc
19.867 7 16 09 19q13.33 HSD17B14, DHRS10, RETSDR3 P 17-beta-hydroxysteroid dehydrogenase XIV 612832 REc
19.868 4 10 14 19q13.33 IZUMO1, MGC34799 P Izumo sperm-egg fusion protein 1 609278 REc
19.869 7 23 13 19q13.33 JOSD2 P Josephin domain-containing protein 2 615324 REc
19.870 11 11 14 19q13.33 KDELR1, ERD2, HDEL P KDEL endoplasmic reticulum protein retention receptor 1 131235 REc
19.871 10 7 08 19q13.33 LIN7B, VELI2, MALS2 P Lin7, C. elegans, homolog of, B 612331 REc
19.872 8 19 13 19q13.33 MAMSTR, MASTR P MEF2-activating SAP transcriptional regulator 610349 REc
19.873 6 10 09 19q13.41 MIR125A, MIRN125A P Micro RNA 125A 611191 REc
19.874 5 19 09 19q13.33 MIR150, MIRN150 P Micro RNA 150 611114 REc
19.875 8 24 09 19q13.33 MYBPC2, MYBPCF P Myosin-binding protein C, fast type 160793 REa, REc
19.876 12 26 14 19q13.33 MYH14, KIAA2034, DFNA4A, PNMHH C Myosin, heavy chain 14, nonmuscle 608568 REc, Fd mutation identified in 1 PNMHH family Deafness, autosomal dominant 4A, 600652 (3); ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3) 7(Myh14)
19.877 2 19 04 19q13.33 NAPA, NAP1, SNAPA P Napsin A 605631 REc
19.878 1 15 16 19q13.33 NOSIP P Nitric oxide synthase-interacting protein 616759 REc
19.879 8 21 07 19q13.33 NUP62, SNDI, IBSN C Nucleoporin, 62-kD 605815 R Striatonigral degeneration, infantile, 271930 (3)
19.880 10 13 09 19q13.33 PIH1D1, NOP17 P PIH1 domain-containing protein 1 611480 R, REc
19.881 8 24 09 19q13.33 PLEKHA4, PEPP1 P Pleckstrin homology domain-containing protein, family A, member 4 607769 REc
19.882 8 24 09 19q13.33 PPFIA3, LPNA3 P Protein tyrosine phosphatase, receptor type, f polypeptide (liprin-alpha-3) 603144 R, REc
19.883 11 17 15 19q13.33 PRR12, KIAA1205 P Proline-rich protein 12 616633 R, REc
19.884 11 11 14 19q13.33 PRRG2, PRGP2 P Proline-rich gamma-carboxyglutamic acid protein 2 604429 REc
19.885 3 23 18 19q13.33 PTH2, TIP39 P Parathyroid hormone 2 608386 REc
19.886 10 4 05 19q13.33 RASIP1, RAIN P Ras-interacting protein 1 609623 REc
19.887 5 15 12 19q13.33 SHANK1, SSTRIP P SH3 and multiple ankyrin repeat domains 1 604999 REc
19.888 5 24 13 19q13.33 SLC6A16, NT5 P Solute carrier family 6 (neurotransmitter transporter), member 16 607972 REc, R
19.889 3 2 06 19q13.33 SPACA4, SAMP14 P Sperm acrosome-associated protein 4 609932 REc 7(Spaca4)
19.890 11 23 15 19q13.33 TBC1D17 P TBC1 domain family, member 17 616659 REc
19.891 8 24 09 19q13.33 ZNF114 P Zinc finger protein-114 603996 REc
19.892 4 6 18 19q13.33 ZNF473, ZFP100, KIAA1141 C Zinc finger protein 473 617908 REc, H 7(Znf473)
19.893 3 23 06 19q13.42 MYADM P Myeloid-associated differentiation marker 609959 R
19.894 2 15 01 19q13.41 SIGLEC8, SAF2, SIGLEC8L P Sialic acid-binding immunoglobulin-like lectin 8 605639 A
19.895 7 7 09 19q13.42 BRSK1, KIAA1811 P BR serine/threonine kinase 1 609235 REc
19.896 9 16 16 19q13.32 C5AR2, GPF77, C5L2 C Complement component 5a receptor 2 609949 REc, REn
19.897 5 1 02 19q13.42 CACNG6 P Calcium channel, voltage-dependent, gamma-6 subunit 606898 REc
19.898 5 1 02 19q13.42 CACNG7 P Calcium channel, voltage-dependent, gamma-7 subunit 606899 REc
19.899 5 1 02 19q13.42 CACNG8 P Calcium channel, voltage-dependent, gamma-8 subunit 606900 REc
19.900 9 9 08 19q13.42 CNOT3, NOT3 P CCR4-NOT transcription complex, subunit 3 604910 REc
19.901 5 9 12 19q13.42 DNAAF3, PF22, DAB1, CILD2 P Dynein, axonemal, assembly factor 3 614566 REc Ciliary dyskinesia, primary, 2, 606763 (3)
19.902 1 9 13 19q13.42 EPS8L1, EPS8R1 P EPS8-like protein 1 614987 REc 7(Eps8l1)
19.903 7 12 92 19q13.42 FCAR P Fc fragment of IgA, receptor for 147045 REa, A
19.904 8 24 09 19q13.41 FPR1 C Formyl peptide receptor-1 136537 REa
19.905 8 19 13 19q13.43 GALP, ALARIN P Galanin-like peptide (GALP precursor protein) 611178 REc
19.906 9 15 11 19q13.42 GP6, GPIV, BDPLT11 C Glycoprotein VI, platelet 605546 Fd, R, REc Bleeding disorder, platelet-type, 11, 614201 (3) 7(Gp6)
19.907 4 23 08 19q13.4 HPC15 P Prostate cancer, hereditary, 15 611959 Fd associated with rs2735839 {Prostate cancer, hereditary, 15} (2)
19.908 3 14 18 19q13.42 LILRA9, ILT11, CD85F, LIR9 P Leukocyte immunoglobulin-like receptor, subfamily A, member 5 606047 REn
19.909 5 12 00 19q13.42 KIR2DL1, NKAT1 P Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 604936 REa, REc
19.910 4 23 03 19q13.42 KIR3DL1, NKAT3, NKB1, AMB11, KIR3DS1 P Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 604946 REa, REc {AIDS, delayed/rapid progression to}, 609423 (3)
19.911 5 12 00 19q13.42 KIR2DL3, NKAT2 P Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 604938 REa, REc
19.912 5 12 00 19q13.42 KIR2DL4, KIR103AS P Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 604945 REa, REc
19.913 5 12 00 19q13.4 KIR2DS1 P Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 604952 REc
19.914 5 12 00 19q13.42 KIR2DS4, NKAT8 P Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 604955 REa, REc
19.915 5 12 00 19q13.42 KIR3DL2, NKAT4 P Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 604947 REc
19.916 8 24 09 19q13.4 KIR2DL2, NKAT6 P Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 604937 REa, REc
19.917 4 29 14 19q13.4 KIR2DL5B P Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B 615727 REc, Psh
19.918 8 24 09 19q13.4 KIR2DS2, NKAT5 P Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 604953 R, REc
19.919 8 24 09 19q13.4 KIR2DS3, NKAT7 P Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 604954 R, REc
19.920 3 31 15 19q13.4 KIR2DS5, NKAT9, CD158G P Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 604956 REc
19.921 8 19 13 19q13.42 KIR3KL3, KIRC1, KIR3DL7, KIR44 P Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 610095 REc
19.922 9 20 14 19q13.33 KLK1, KLKR C Kallikrein 1 147910 REa, A, Fd ~10cM distal to APOC2 [Kallikrein, decreased urinary activity of], 615953 (3) 7(Kal)
19.923 11 30 06 19q13.33 KLK2 C Kallikrein-related peptidase 2 147960 REa, RE 12kb from APS
19.924 11 30 06 19q13.42 KIR3DP1, CD158C, KIRX, KIR48, KIR2DS6 P Killer cell immunoglobulin-like receptor, three domains, pseudogene 610604 REc functional in some individuals
19.925 5 12 99 19q13.33 KLK3, APS, PSA C Kallikrein-related peptidase 3 176820 REa, RE, A probably with cluster KLK1, KLK2 7(Aps)
19.926 8 4 09 19q13.41 KLK4, EMSP1, PRSS17, AI2A1 C Kallikrein-related peptidase 4 603767 Psh, A Amelogenesis imperfecta, type IIA1, 204700 (3)
19.927 2 15 01 19q13.41 KLK5, SCTE, KLKL2 C Kallikrein-related peptidase 5 605643 REc, REn
19.928 2 15 01 19q13.41 KLK8, TADG14, PRSS19 P Kallikrein-related peptidase 8 605644 REn
19.929 11 30 06 19q13.41 KLK11, PRSS20, TLSP C Kallikrein-related peptidase 11 604434 REn
19.930 11 30 06 19q13.41 KLK12, KLKL5 C Kallikrein-related peptidase 12 605539 REn
19.931 11 30 06 19q13.41 KLK13, KLKL4 C Kallikrein-related peptidase 13 605505 REc
19.932 11 30 06 19q13.41 KLK6, PRSS9, ZYME C Kallikrein-related peptidase 6 602652 Psh, A
19.933 11 30 06 19q13.41 KLK9, KLKL3 C Kallikrein-related peptidase 9 605504 REc, REn
19.934 11 30 06 19q13.41 KLK14 C Kallikrein-related peptidase 14 606135 REc
19.935 11 30 06 19q13.41 KLK10, PRSSL1, NES1 C Kallikrein-related peptidase 10 602673 A, REn
19.936 11 30 06 19q13.33 KLK15 C Kallikrein-related peptidase 15 610601 REc
19.937 2 21 14 19q13.32 KPTN, 2E4, MRT41 P Kaptin 615620 REc Mental retardation, autosomal recessive 41, 615637 (3)
19.938 12 15 98 19q13.42 LAIR1 P Leukocyte-associated immunoglobulin-like receptor 1 602992 A
19.939 8 21 00 19q13.42 LILRA2, LIR7, ILT1 C Leukocyte immunoglobulin-like receptor, subfamily A, member 2 604812 R
19.940 8 21 00 19q13.42 LILRB1, LIR1, ILT2, MIR7, CD85 C Leukocyte immunoglobulin-like receptor, subfamily B, member 1 604811 R
19.941 8 21 00 19q13.42 LILRB2, LIR2, ILT4, MIR10 C Leukocyte immunoglobulin-like receptor, subfamily B, member 2 604815 R, A
19.942 8 21 00 19q13.42 LILRB3, LIR3, ILT5, HL9 C Leukocyte immunoglobulin-like receptor, subfamily B, member 3 604820 R
19.943 8 21 00 19q13.42 LILRB4, LIR5, ILT3, HM18 C Leukocyte immunoglobulin-like receptor, subfamily B, member 4 604821 R, A
19.944 8 21 00 19q13.4 LILRA3, LIR4, ILT6, HM43 C Leukocyte immunoglobulin-like receptor, subfamily A, member 3 604818 R
19.945 8 6 13 19q13.41 LIM2, MP19, CTRCT19 C Lens intrinsic protein 2, 19kD 154045 REc, REa, A same cosmid as ETFB Cataract 19, multiple types, 615277 (3) 7(Lim2)
19.946 11 22 16 19q13.42 MBOAT7, BB1, LENG4, MRT57 P Membrane bound O-acyltransferase domain containing 7 606048 REc Mental retardation, autosomal recessive 57, 617188 (3)
19.947 7 7 09 19q13.4 MENOQ2 P Menopause, natural, age at, QTL2 612884 Fd associated with rs1172822, rs2384687, rs1551562, rs897798 {Menopause, natural, age at, QTL2} (2)
19.948 5 16 05 19q13.42 NALP2, PAN1, PYPAF2 P NACHT-, leucine-rich repeat-, and PYD-containing 2 609364 REc
19.949 3 7 06 19q13.43 NALP4, PAN2, PYPAF4 C NACHT domain-, leucine-rich repeat-c and PYD-containing protein 4 609645 REc
19.950 11 14 14 19q13.42 NALP7, NOD12, PYPAF3, HYDM C NACHT domain-, leucine-rich repeat-, and PYD-containing protein 7 609661 Fd, REc Hydatidiform mole, recurrent, 1, 231090 (3)
19.951 3 7 06 19q13.43 NALP8, NOD16, PAN4 P NACHT domain-, leucine-rich repeat-, and PYD-containing protein 8 609659 REc
19.952 4 17 13 19q13.42 NLRP12, NALP12, PYPAF7, RNO, FCAS2 C NLR family, pyrin domain containing 12 609648 REc Familial cold autoinflammatory syndrome 2, 611762 (3)
19.953 3 7 06 19q13.42 NALP9, NOD6 P NACHT domain-, leucine-rich repeat-, and PYD-containing protein 9 609663 REc
19.954 3 7 06 19q13.42-q13.43 NALP11, PYPAF7, NOD17 P NACHT domain-, leucine-rich repeat-, and PYD-containing protein 11 609664 REc
19.955 3 7 06 19q13.43 NALP13, NOD14 P NACHT domain-, leucine-rich repeat-, and PYD-containing protein 13 609660 REc
19.956 4 18 02 19q13.42 OSCAR P Osteoclast-associated receptor 606862 REc 7(Oscar)
19.957 8 5 97 19q13.43 PEG3 P Paternally expressed gene 3 601483 REc 7(Peg3)
19.958 3 23 15 19q13.33 PNKP, PNK, MCSZ, EIEE10, AOA4 C Polynucleotide kinase 3' phosphatase 605610 A Microcephaly, seizures, and developmental delay, 613402 (3); Ataxia-oculomotor apraxia 4, 616267 (3)
19.959 5 13 15 19q13.41 PPP2R1A, MRD36 P Protein phosphatase 2, structural/regulatory subunit A, alpha 605983 REc Mental retardation, autosomal dominant 36, 616362 (3)
19.960 4 23 03 19q13.42 PRKCG, PKCC, PKCG, SCA14 C Protein kinase C, gamma polypeptide 176980 REa, A, Fd Spinocerebellar ataxia 14, 605361 (3) 7(Pkcc)
19.961 10 30 01 19q13.42 PRPF31, PRP31, RP11 P Precursor RNA-processing factor 31, S. cerevisiae, homolog of 606419 REc Retinitis pigmentosa 11, 600138 (3)
19.962 4 15 98 19q13.42 PTPRH P Protein tyrosine phosphatase, receptor type, H 602510 A
19.963 2 17 09 19q13.42 RFPL4A, RNF210 P Ret finger protein-like 4A 612601 REc 7(Rfpl4a)
19.964 11 15 08 19q13.42 TSEN34, PCH2C, LENG5, SEN34 P tRNA splicing endonuclease 34, S. cerevisiae, homolog of 608754 REc, Fd mutation identified in 1 PCH2C patient ?Pontocerebellar hypoplasia type 2C, 612390 (3)
19.965 6 19 00 19q13.43 ZNF132 P Zinc finger protein-132 604074 A
19.966 6 28 99 19q13.42 RPL28 P Ribosomal protein L28 603638 RE, R
19.967 6 28 99 19q13.43 RPS5 P Ribosomal protein S5 603630 RE, R
19.968 6 28 99 19q13.42 RPS9 P Ribosomal protein S9 603631 RE, R
19.969 2 15 01 19q13.41 SIGLEC9 P Sialic acid-binding immunoglobulin-like lectin 9 605640 REc
19.970 6 8 09 19q13.41 SIGLEC10 C Sialic acid-binding immunoglobulin-like lectin 10 606091 REc
19.971 9 21 11 19q13.41 SIGLEC12, SIGLECL1, S2V, SLG P Sialic acid-binding immunoglobulin-like lectin 12 606094 REc
19.972 2 11 16 19q13.42 TARM1 P T cell-interacting activating receptor on myeloid cells 1 616802 REc
19.973 2 20 08 19q13.42 TNNI3, CMH7, CMD2A, RCM1, CMD1FF C Troponin-I, cardiac 191044 REa, R mutation identified in 1 CMD2A family Cardiomyopathy, hypertrophic, 7, 613690 (3); Cardiomyopathy, familial restrictive, 1, 115210 (3); ?Cardiomyopathy, dilated, 2A, 611880 (3); Cardiomyopathy, dilated, 1FF, 613286 (3) 7(Tnni3)
19.974 8 2 13 19q13.42 TNNT1, ANM, NEM5 C Troponin-T1, skeletal, slow 191041 REa, Psh, A Nemaline myopathy 5, Amish type, 605355 (3)
19.975 9 27 17 19q13.43 TRIM28, KAP1, TIF1B C Tripartite motif-containing protein 28 601742 REc, A
19.976 4 4 01 19q13.42 TTYH1 P Tweety, Drosophila, homolog of, 1 605784 A, R
19.977 3 14 03 19q13.43 VN1R1, V1RL1 P Vomeronasal 1 receptor 1 605234 R
19.978 2 12 16 19q13.42 VSTM1, SIRL1 P V-SET and transmembrane domains-containing protein 1 616804 REc
19.979 9 2 10 19q13.43 ZNF71 P Zinc finger protein-71 (Cos26) 194545 REc previously assigned to 22q11.2
19.980 6 19 00 19q13.43 ZNF134 P Zinc finger protein-134 604076 A
19.981 6 19 00 19q13.43 ZNF135 P Zinc finger protein-135 604077
19.982 6 19 00 19q13.43 ZNF154 P Zinc finger protein-154 604085 A
19.983 10 4 99 19q13.41 ZNF175, OTK18 P Zinc finger protein-175 601139 A
19.984 8 24 09 19q13.43 ZNF264 P Zinc finger protein-264 604668 R, REc
19.985 5 10 04 19q13.43 ZNF272, HZF8, ZNF460 P Zinc finger protein-272 604755 REc
19.986 8 24 09 19q13.43 ZNF274 P Zinc finger protein-274 605467 R, REa, REc
19.987 5 10 04 19q13.12 ZNF461, GIOT1 P Zinc finger protein-461 608640 REc
19.988 12 29 06 19q13.42 ZNF628, ZEC P Zinc finger protein 628 610671 REc
19.989 8 20 07 19q13.43 ZNF667, MIPU1 P Zinc finger protein 667 611024 REc
19.990 6 12 97 19q13.43 ZNFC25 P Zinc finger protein-C2H2-25 601856 Psh, REc
19.991 2 11 16 19q13.43 ZFP28 P Zinc finger protein 28 616798 REc
19.992 4 20 11 19q13.4-qter AAVS1 P Adeno-associated virus integration site-1 102699 REa, A
19.993 11 25 13 19q13.41 LKL7, PRSS6, SCCE P Kallikrein-related peptidase 7 604438 REc
19.994 8 19 13 19q13.41 MIRLET7E, LET7E P Micro RNA Let7e 611250 REc
19.995 3 29 12 19q13.41 MIR99B P Micro RNA 99B 614510 REc
19.996 4 6 15 19q13.42 MIR371A P Micro RNA 371A 612043 REc
19.997 3 23 09 19q13.42 MIR372, MIRN372 P Micro RNA 372 612044 REc
19.998 3 23 09 19q13.42 MIR373, MIRN373 P Micro RNA 373 611954 REc
19.999 10 26 17 19q13.41 VSIG10L P V-set and immunoglobulin domains-containing protein 10-like 617740 REc
19.1000 9 27 17 19q13.41 ZNF350, ZBRK1 P Zinc finger protein 350 605422 REc
19.1001 3 1 16 19q13.41 ZNF468 P Zinc finger protein 468 616841 REc
19.1002 5 16 11 19q13.41 ZNF480 P Zinc finger protein 480 613910 REc
19.1003 12 26 13 19q13.41 ZNF528, KIAA1827 P Zinc finger protein 528 615580 REc
19.1004 3 20 08 19q13.41 ZNF649 P Zinc finger protein 649 611903 R, REc
19.1005 9 29 10 19q13.42 CCDC106 P Coiled-coil domain-containing protein 106 613478 REc
19.1006 7 14 14 19q13.42 CDC42EP5, CEP5, BORG3 P CDC42 effector protein 5 609171 REc
19.1007 8 19 13 19q13.42 DPRX P Divergent-paired related homeobox 611165 REc many pseudogenes
19.1008 7 14 14 19q13.42 FIZ1, FLJ14768 P FLT3-interacting zinc finger protein 1 609133 REc
19.1009 8 17 09 19q13.42 HSPBP1 P Heat-shock 70kD protein-binding protein 1 612939 REc
19.1010 8 17 09 19q13.42 ISOC2 P Isochorismatase domain-containing 2 612928 REc
19.1011 9 28 15 19q13.42 LENG8, KIAA1932 P Leukocyte receptor cluster gene 8 616575 R, REc
19.1012 12 30 14 19q13.42 LIAR2, CD306 P Leukocyte-associated immunoglobulin-like receptor 2 602993 REc
19.1013 11 11 14 19q13.42 LILRA4, ILT7 P Leukocyte immunoglobulin-like receptor, subfamily A, member 4 607517 R, REc
19.1014 9 24 11 19q13.42 MIR519D, MIRN519D P Micro RNA 519D 614247 REc
19.1015 8 18 14 19q13.42 MIR520C P Micro RNA 520C 615908 REc
19.1016 3 25 15 19q13.42 MIR520G P Micro RNA 520G 616272 REc
19.1017 9 2 12 19q13.42 MIR520H P Micro RNA 520H 614755 REc
19.1018 8 24 09 19q13.42 NCR1, LY94, NKP46 P Natural cytotoxicity triggering receptor 1 (lymphocyte antigen 94, mouse, homolog of) 604530 REa, REc
19.1019 5 25 13 19q13.42 NDUFA3 P NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 3 603832 REc
19.1020 3 29 07 19q13.42 SAPS1, PP6R1, KIAA1115 P SAPS domain family, member 1 610875 R, REc
19.1021 2 2 17 19q13.42 SHISA7 P Shisa family, member 7 617328 REc
19.1022 12 29 09 19q13.42 SUV420H2 P Suppressor of variegation 4-20, Drosophila, homolog of, 2 613198 REc
19.1023 2 1 11 19q13.42 SYT5 P Synaptotagmin-5 600782 REc 7(Syt5)
19.1024 11 23 16 19q13.42 TMC4 P Transmembrane channel-like protein 4 617181 REc 7(Tmc4)
19.1025 12 22 17 19q13.42 TMEM86B P Transmembrane protein 86B 617806 REc
19.1026 1 9 17 19q13.42 TMEM150B, DRAM3, TTN2, TMEM224 P Transmembrane protein 150B 617291 REc
19.1027 7 18 14 19q13.42 U2AF2, U2AF65 P U2 small nuclear RNA auxiliary factor 2 191318 REc
19.1028 3 1 07 19q13.42 UBE2S, EPF5, E2EPF P Ubiquitin-conjugating enzyme E2S 610309 REc, R
19.1029 3 5 18 19q13.42 ZNF580 P Zinc finger protein 580 617888 REc
19.1030 7 7 16 19q13.43 AURKC, STK13, AIE2, SPGF5 C Aurora kinase C 603495 RE, A, R Spermatogenic failure 5, 243060 (3)
19.1031 8 19 13 19q13.43 DUXA P Double homeobox A 611168 REc many pseudogenes
19.1032 8 24 09 19q13.43 SLC27A5, FATP5, VLACSR, VLCSH2 P Solute carrier family 27 (fatty acid transporter), member 5 603314 R, REc
19.1033 6 13 12 19q13.43 UBE2M, UBC12 P Ubiquitin-conjugating enzyme E2M 603173 REc
19.1034 1 13 11 19q13.43 ZNF8 P Zinc finger protein-8 194532 REc previously assigned to 20q13
19.1035 3 28 11 19q13.43 ZNF304 P Zinc finger protein 304 613840 REc
19.1036 5 11 17 19q13.43 ZNF324, ZF5128 P Zinc finger protein 324 617477 REc
19.1037 3 28 17 19q13.43 ZNF419 P Zinc finger protein 419 617410 REc
19.1038 8 24 09 19q13.43 ZNF444, EZF2 P Zinc finger protein 444 607874 R, REc
19.1039 3 8 16 19q13.43 ZNF543 P Zinc finger protein 543 616847 REc
19.1040 1 7 14 19q13.43 ZNF582 P Zinc finger protein 582 615600 REc
19.1041 5 16 11 19q13.43 ZNF606, ZNF328, KIAA1852 P Zinc finger protein 606 613905 REc
19.1042 7 26 10 19q13.43 ZSCAN4, ZNF494 P Zinc finger- and SCAN domain-containing protein 4 613419 REc, H 7(Zscan4)
19.1043 8 24 09 19q13.43 ZSCAN22, HKR2 P Zinc finger- and SCAN domain-containing protein 22 165260 REa
19.1044 6 19 00 Chr.19 ZNF97 P Zinc finger protein-97 603979 REc
20.1 5 13 93 20p12.3 CHGB, SCG1 C Chromogranin B (secretogranin B) 118920 REa, A, H 2(Scg1)
20.2 10 28 99 20p13 PRND, DPL P Prion gene complex, downstream (doppel) 604263 REc 2(Prnd)
20.3 11 27 13 20p13 PRNP, PRIP, KURU, CJD C Prion protein (p27-30) 176640 REa, REb, A pter-PRNP-SCG1-BMP2A-PAX1-cen Creutzfeldt-Jakob disease, 123400 (3); Gerstmann-Straussler disease, 137440 (3); Insomnia, fatal familial, 600072 (3); Prion disease with protracted course, 606688 (3); Huntington disease-like 1, 603218 (3); {Kuru, susceptibility to}, 245300 (3); Cerebral amyloid angiopathy, PRNP-related, 137440 (3) 2(Prnp)
20.4 10 8 08 20pter-p11.2 BMIQ6 P Body mass index quantitative trait locus 6 608559 Fd near D20S482 and D20S851 [Body mass index QTL6] (2)
20.5 9 3 02 20p13 ADAM33 P A disintegrin and metalloproteinase domain 33 607114 REc
20.6 8 26 09 20p13 ADRA1D, ADRA1A C Adrenergic, alpha-1D-, receptor 104219 A incorrectly assigned to 5q 11(Adra1a)
20.7 4 23 04 20p13 ALS7 P Amyotrophic lateral sclerosis 7 608031 Fd max lod at D20S103 Amyotrophic lateral sclerosis 7 (2)
20.8 6 28 99 20p13 ANGPT4, ANG4 P Angiopoietin 4 603705 A no ANGT3 in human 2(Angpt3)
20.9 9 18 12 20p13 AP5S1, C20orf29 P Adaptor-related protein complex 5, sigma-1 subunit 614824 REc
20.10 8 14 00 20p13 ATRN, MGCA P Attractin (mahogany, mouse, homolog of) 603130 REc 2(Atrn)
20.11 4 25 93 20p13 AVP, AVRP, VP C Arginine vasopressin (neurophysin II, antidiuretic hormone) 192340 REa, RE, Fd distal 20p Diabetes insipidus, neurohypophyseal, 125700 (3) 2(Avp)
20.12 12 29 06 20p13 C20orf28, CLAMP, SPEF1 P Sperm flagellar protein 1 610674 REc 2(Spef1)
20.13 8 5 11 20p13 C20orf194 P Chromosome 20 open reading frame 194 614146 REc
20.14 11 4 93 20p13 CDC25B C Cell division cycle 25B 116949 REa, A, Psh
20.15 6 15 99 20p12.3 CDS2 C CDP-diacylglycerol synthase 2 603549 R, A, H 2(Cds2)
20.16 1 12 95 20p13 CENPB C Centromeric protein B 117140 REa, A
20.17 8 10 16 20p13 CSNK2A1, CK2A1, OCNDS C Casein kinase-2, alpha-1 polypeptide 115440 REa, A pseudogene on 11p15 Okur-Chung neurodevelopmental syndrome, 617062 (3)
20.18 1 10 18 20p13 DDRGK1, UFBP1, C20orf116, SEMDSH P DDRGK domain-containing protein 1 616177 REc Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3)
20.19 3 22 06 20p13 EBF4, KIAA1442 P Early B-cell factor 4 609935 R, REc
20.20 3 23 14 20p13 FAM110A, C20orf55 P Family with sequence similarity 110, member A 611393 REc
20.21 10 5 11 20p13 FASTKD5 P Fast kinase domain-containing protein 5 614272 REc
20.22 4 25 93 20p13 FKBP1A, FKBP12 C FK506-binding protein-1A, 12kD 186945 Psh, A
20.23 2 18 98 20p13 GNRH2 P Gonadotropin-releasing hormone-2 602352 A
20.24 1 16 07 20p13 HSPA12B P Heat-shock 70kD protein 12B 610702 REc 2(Hspa12b)
20.25 5 4 12 20p13 IDH3B, RP46 P Isocitrate dehydrogenase 3, beta subunit 604526 R, A Retinitis pigmentosa 46, 612572 (3)
20.26 7 17 03 20p12.3 KIND1, URP1, C20orf42 C Kindlin 1 607900 REc, Fd Kindler syndrome, 173650 (3)
20.27 10 12 09 20p13 MAVS, VISA, IPS1, CARDIF, KIAA1271 P Mitochondrial antiviral signaling protein 609676 R, REc
20.28 12 21 09 20p13 MIR103-2, MIRN103-2 P Micro RNA 103-2 613188 REc
20.29 8 9 11 20p13 MIR1292, MIRN1292 P Micro RNA 1292 614155 REc
20.30 4 24 08 20p13 MRPS26, MRPS13 P Mitochondrial ribosomal protein S26 611988 R, REc
20.31 9 6 11 20p13 NOP56, SCA36 P Nop56, S. cerevisiae, homolog of 614154 REc Spinocerebellar ataxia 36, 614153 (3)
20.32 12 29 06 20p13 NRSN2 P Neurensin 2 610666 REc
20.33 4 25 93 20p13 OXT C Oxytocin-neurophysin I 167050 RE, Fd, A 12kb from ARVP 2(Oxt)
20.34 12 21 10 20p13 PDYN, SCA23 C Prodynorphin 131340 REa, A, Fd Spinocerebellar ataxia 23, 610245 (3)
20.35 9 28 12 20p12.3 PROKR2, PKR2, GPR73L1, HH3 P Prokineticin receptor 2 607123 REc Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)
20.36 7 11 11 20p13 PROSAPIP1, KIAA0552 P Proline-rich synapse-associated protein-interacting protein 1 610484 R, REc
20.37 1 31 18 20p13 PSMF1, PI31 P Proteasome inhibitor subunit 1 617858 REc
20.38 8 17 92 20p13 PTPRA, PTPA, PTPRL2, LRP C Protein tyrosine phosphatase, receptor type, alpha polypeptide 176884 REa, A 2(Ptpa)
20.39 2 4 15 20p13 RBCK1, HOIL1, PGBM1, PBMEI P RANBP-type and C3HC4-type zinc finger-containing 1 610924 R, REc Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
20.40 8 8 08 20p13 RLS5 P Restless legs syndrome, susceptibility to, 5 611242 Fd max lod at D20S849 {Restless legs syndrome 5} (2)
20.41 6 25 07 20p13 RSPO4, CRISTIN4 P R-spondin family, member 4 610573 REc Anonychia congenita, 206800 (3) 2(Rspo4)
20.42 2 24 17 20p13 SDCBP2, SITAC, ST2, SITAC18 P Syndecan-binding protein 2 617358 REc
20.43 2 15 06 20p13 SIRPG, SIRPB2 P Signal regulatory protein, gamma 605466 Psh, R
20.44 1 28 16 20p13 SIGLEC1, SN, CD169 P Sialic acid-binding immunoglobulin-like lectin 1 (sialoadhesin) 600751 REa, A 2(Sn)
20.45 3 12 15 20p13 SNRPB, CCMS P Small nuclear ribonucleoprotein polypeptides B and B1 182282 REc Cerebrocostomandibular syndrome, 117650 (3)
20.46 8 29 02 20p13 SOX12, SOX22 P SRY (sex-determining region Y)-box 12 601947 A
20.47 7 13 98 20p13 SHPS1 P SHP substrate-1 602461 A 2(Shps1)
20.48 1 20 06 20p11.23 SLC24A3, NCKX3 P Solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 609839 REc
20.49 5 10 17 20p13 SLC52A3, C20orf54, RFT2, BVVLS1 P Solute carrier family 52, riboflavin transporter, member 3 613350 REc mutation identified in 1 FZLD family Brown-Vialetto-Van Laere syndrome 1, 211530 (3); ?Fazio-Londe disease, 211500 (3)
20.50 7 18 14 20p13 SMOX, SMO, PAO1, C20orf16, PAOH P Spermine oxidase 615854 REc
20.51 12 7 07 20p13 SNPH P Syntaphilin 604942 R, REc
20.52 7 27 17 20p13 SRXN1, SRX P Sulfiredoxin 1 617583 REc
20.53 5 16 05 20p13 STK35, CLIK1 P Serine/threonine kinase 35 609370 REn
20.54 2 25 14 20p13 TBC1D20, C20orf140, WARBM4 P TBC1 domain family, member 20 611663 REc Warburg micro syndrome 4, 615663 (3)
20.55 2 18 96 20p13 TCF15 P Transcription factor-15 (basic helix-loop-helix) 601010 A 2(Meso1)
20.56 2 26 02 20p13 TMC2 P Transmembrane channel-like protein 2 606707 REc
20.57 7 11 16 20p13-p12 TMEM230, C20orf30 P Transmembrane protein 230 617019 REc
20.58 3 31 15 20p13 TRIB3, NIPK, SINK, C20orf97, SKIP3 P Tribbles, Drosophila, homolog of, 3 607898 R, REc
20.59 11 19 15 20p13 VPS16 P Vacuolar protein sorting 18, yeast, homolog of 608550 REc
20.60 10 5 10 20p12.3 CRLS1, GCD10, C20orf155 P Cardiolipin synthase 1 608188 REc
20.61 3 19 15 20p12.3 MCM8, POF10 C Minichromosome maintenance complement component 8 608187 REc mutation identified in 1 POF10 family ?Premature ovarian failure 10, 612885 (3)
20.62 3 9 10 20p13 PANK2, NBIA1, PKAN, HARP P Pantothenate kinase 2 606157 LD, Fd Neurodegeneration with brain iron accumulation 1, 234200 (3); HARP syndrome, 607236 (3)
20.63 7 22 11 20p13 TGM6, TG6, TGY, SCA35 P Transglutaminase 6 613900 REc Spinocerebellar ataxia 35, 613908 (3) 2(Tgm6)
20.64 12 24 08 20p13 RNF24, G1L P Ring finger protein 24 612489 REc
20.65 3 30 16 20p13 SLC4A11, BTR1, NABC1, CHED, CDPD, FECD4 C Solute carrier family 4 (sodium borate cotransporter), member 11 610206 REc, Fd Corneal endothelial dystrophy, autosomal recessive, 217700 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3); Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
20.66 8 26 09 20p13 SLC23A2, SVCT2 C Solute carrier family 23 (nucleobase transporters), member 2 (sodium-dependent vitamin C transporter 2) 603791 R, REc
20.67 1 22 08 20p12.3 BMND7 P Bone mineral density QTL 7 611738 Fd most significant association with haplotype C {Osteoporosis}, 166710 (2)
20.68 2 23 09 20p12.3 CRCS11 P Colorectal cancer, susceptibility to, 11 612592 Fd associated with rs961253 {Colorectal cancer, susceptibility to, 11} (2)
20.69 7 27 11 20p12.3 GPCPD1, GDE5, KIAA1434 P Glycerophosphocholine phosphodiesterase GDE1, S. cerevisiae, homolog of 614124 REc
20.70 1 21 16 20p12.3 TMX4 P Thioredoxin-related transmembrane protein 4 616766 REc
20.71 9 10 07 20p12.1 SPTLC3, SPTLC2L P Serine palmitoyltransferase, long-chain base subunit 3 611120 REc
20.72 12 27 13 20p12.2 BTBD3, KIAA0952 P BTB/POZ domain-containing protein 3 615566 REc
20.73 6 1 12 20p12.2 LAMP5, BADLAMP P Lysosome-associated membrane protein 5 614641 REc
20.74 9 20 14 20p12.2 SLX4IP, C20orf94 P SLX4-interacting protein 615958 REc
20.75 9 11 08 20p12.1 DSTN, ADF P Destrin 609114 R, REc
20.76 6 22 14 20p12.1 ISM1, ISM P Isthmin 1, angiogenesis inhibitor 615793 REc 2(Ism1)
20.77 12 17 12 20p12.1 NDUFAF5, C20orf7 P NADH dehydrogenase (ubiquinone) complex I, assembly factor T 612360 REc Mitochondrial complex 1 deficiency, 252010 (3)
20.78 10 18 11 20p12.1 SEL1L2 P Suppressor of Lin12-like 2 614289 REc
20.79 5 25 13 20p12.1 SNRPB2 P Small nuclear ribonucleoprotein polypeptide B-double prime 603520 REc
20.80 3 22 07 20p12.1 TASP1, C20orf13 P Threonine aspartase 1 608270 REc
20.81 5 9 17 20p12.1 BFSP1, CP115, CTRCT33 P Beaded filament structural protein-1 (filensin) 603307 A Cataract 33, multiple types, 611391 (3)
20.82 2 16 18 20p12.3 BMP2, BMP2A, BDA2, SSFSC C Bone morphogenetic protein-2 112261 H, REa, A {HFE hemochromatosis, modifier of}, 235200 (3); Brachydactyly, type A2, 112600 (3); Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3) 2(Bmp2a)
20.83 8 29 05 20p12 GLC1K, JOAG3 P Glaucoma 1K, primary open angle, juvenile-onset 608696 Fd between D20S189 and D20S104 Glaucoma 1K, primary open angle, juvenile-onset (2)
20.84 2 1 01 20p12.3 HAO1, GOX1 C Hydroxyacid oxidase 1 605023 R, REc
20.85 9 13 16 20p12.2 JAG1, AGS1, AHD C Jagged 1 601920 Ch, D, Fd, A, REc mutation identified in 1 DFNCDPE family Alagille syndrome 1, 118450 (3); Tetralogy of Fallot, 187500 (3); ?Deafness, congenital heart defects, and posterior embryotoxon (3)
20.86 2 23 08 20p12.1 MACROD2, C2orf133 P Macro domain-containing 2 611567 REc
20.87 10 16 14 20p12.2 MKKS, HMCS, KMS, MKS, BBS6 C McKusick-Kaufman syndrome gene 604896 Fd McKusick-Kaufman syndrome, 236700 (3); Bardet-Biedl syndrome 6, 605231 (3)
20.88 6 28 17 20p12.3 PCNA, ATLD2 C Proliferating cell nuclear antigen 176740 REa, A pseudogenes on X and 6; mutation identified in one ATLD2 family ?Ataxia-telangiectasia-like disorder 2, 615919 (3)
20.89 2 11 11 20p12.3 PLCB1, KIAA0581, PLCB1A, PLCB1B, EIEE12 C Phospholipase C, beta-1 607120 A, Psh Epileptic encephalopathy, early infantile, 12, 613722 (3)
20.90 6 4 12 20p12.3-p12.2 PLCB4, ARCND2 P Phospholipase C, beta 4 600810 Psh, A Auriculocondylar syndrome 2, 614669 (3)
20.91 5 31 06 20p12 SLEB7 P Systemic lupus erythematosus, susceptibility to, 7 610065 Fd {Systemic lupus erythematosus, susceptibility to, 7} (2)
20.92 8 27 01 20p11.21 NXT1, MTR2 P NTF2-related export protein 1 605811 REc
20.93 5 19 98 20p12.1 RRBP1, ES130 P Ribosome binding protein-1 601418 A
20.94 1 9 13 20p11.23 LINC00237 P Long intergenic noncoding RNA 237 614992 A
20.95 5 30 17 20p11.23 KAT14, CRP2BP, CSRP2BP, ATAC2 C Lysine acetyltransferase 14 617501 REc
20.96 5 22 14 20p11.23 KIZ, KIZUNA, C20orf19, RP69 P Kizuna centrosomal protein 615757 REc Retinitis pigmentosa 69, 615780 (3)
20.97 2 21 13 20p11.23 MGME1, C20orf72, MTDPS11 P Mitochondrial genome maintenance exonuclease 1 615076 REc Mitochondrial DNA depletion syndrome 11, 615084 (3)
20.98 3 30 16 20p11.23 OVOL2, ZNF339, PPCD1 P ovo-like 2 616441 RE, H, REc Corneal dystrophy, posterior polymorphous, 1, 122000 (3) 2(Ovol2)
20.99 8 21 12 20p11.23 PET117 P PET117, S. cerevisiae, homolog of 614771 REc
20.100 4 26 17 20p11.23 POLR3F, RPC39, RPC6 P Polymerase III, RNA, subunit F 617455 REc
20.101 12 1 11 20p11.21 ACSS1, ACECS1 P Acyl-CoA synthetase short-chain family, member 1 614355 REc
20.102 12 18 08 20p11.22 AGA3 P Alopecia, androgenetic, 3 612421 Fd associated with rs1160312 Alopecia, androgenetic, 3 (2)
20.103 10 12 09 20p11.23 RIN2, MACS P RAS and RAB interactor 2 610222 R, REc Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
20.104 5 21 07 20p11.23 CRNKL1, CRN C Crooked neck pre-mRNA splicing factor-like 1 610952 REc, A
20.105 4 15 98 20p11.21 CST1 P Cystatin SN 123855 A
20.106 4 15 98 20p11.21 CST2 C Cystatin SA 123856 REa, A
20.107 6 26 16 20p11.21 CST3, ARMD11 C Cystatin C 604312 REa, A proximal to 20p11.2 Cerebral amyloid angiopathy, 105150 (3); {Macular degeneration, age-related, 11}, 611953 (3) 2(Cst3)
20.108 4 15 98 20p11.21 CST4 P Cystatin S 123857 A
20.109 1 27 11 20p11.21 ABHD12, PHARC P Abhydrolase domain-containing protein 12 613599 REc, Fd Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
20.110 8 8 13 20p11.21 C1QR1, CD93, C1QR P Complement component 1, q subcomponent, receptor 1 120577 REc
20.111 3 31 97 20p11.21 CST5 P Cystatin D 123858 A
20.112 11 11 14 20p11.21 CST7, CMAP P Cystatin 7 603253 A, H 2(Cst7)
20.113 11 28 05 20p11.21 CST11, CST8L P Cystatin 11 609731 REc
20.114 1 16 18 20p11.21 GINS1, PSF1, KIAA0186, IMD55 P GINS complex subunit 1 610608 R, REc Immunodeficiency 55, 617827 (3)
20.115 9 14 17 20p11.21 GZF1, ZNF336, JLSM P GDNF-inducible zinc finger protein 1 613842 REc Joint laxity, short stature, and myopia, 617662 (3) 2(Gzf1)
20.116 8 19 13 20p11.21 NAPB, SNAPB P N-ethylmaleimide-sensitive factor attachment protein, beta 611270 REc, R
20.117 10 25 11 20p11.21 SYNDIG1, TMEM90B P Synapse differentiation-induced gene 1 614311 REc
20.118 7 17 14 20p11.21 APMAP, C20orf3, BSCV P Adipocyte plasma membrane-associated protein 615884 REc
20.119 9 4 15 20p11.21 CST9, CLM P Cystatin 9 616543 REc
20.120 9 2 15 20p11.21 CST9L P Cystatin 9-like 616536 R
20.121 8 9 99 20p11.23 INSM1, IA1 P Insulinoma-associated 1 600010 A
20.122 3 6 07 20p11.23 NAT5, NAT3 P N-acetyltransferase 5 610833 REc, R
20.123 12 5 13 20p11.22 PAX1, OFC2 C Paired box homeotic gene-1 167411 A, Psh, REa mutation identified in 1 family ?Otofaciocervical syndrome 2, 615560 (3) 2(Pax1)
20.124 5 14 95 20p11.21 SSTR4 P Somatostatin receptor-4 182454 A, Psh 2(Sstr4)
20.125 9 29 96 20p12.1 PCSK2, NEC2, PC2 C Proprotein convertase subtilisin/kexin type 2 162151 A, R 2(Nec2)
20.126 2 20 01 20p11.23 RBBP9, BOG P Retinoma-binding protein 9 602908 A 2(Rbbp9)
20.127 3 11 16 20p11.23 SEC23B, CDAN2, HEMPAS, CWS7 P Sec23, S. cerevisiae, homolog of, B 610512 R, REc, Fd Dyserythropoietic anemia, congenital, type II, 224100 (3); Cowden syndrome 7, 616858 (3)
20.128 4 30 15 20p12.2 SNAP25, CMS18 P Synaptosomal-associated protein, 25kD 600322 R mutation identified in 1 CMS18 patient ?Myasthenic syndrome, congenital, 18, 616330 (3) 2(Snap)
20.129 3 1 12 20p11.21 THBD, THRM, AHUS6, THPH12 C Thrombomodulin 188040 REb, A, R Thrombophilia due to thrombomodulin defect, 614486 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3) 2(Thbd)
20.130 3 30 16 20p11.21 VSX1, RINX, KTCN1, CAASDS C Visual system homeo box gene 1, zebrafish, homolog of 605020 R, Fd mutation identified in 1 CAASDS family Keratoconus 1, 148300 (3); ?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
20.131 6 19 00 20p11.23 ZNF133 P Zinc finger protein-133 604075 A
20.132 4 24 96 20p11.21 PYGB C Phosphorylase, glycogen, brain 138550 REa, REb, A 2(Pygb)
20.133 8 18 04 20p11.22 XRN2 P Exoribonuclease 2 608851 R
20.134 11 25 08 20p11.2-q13.12 DYT17 P Dystonia-17, primary torsion 612406 Fd between D20S472 and D20S911 Dystonia-17, primary torsion (2)
20.135 10 9 08 20p11.21 GGTLC1, GGTL6, GGTLA4 P Gamma-glutamyltransferase, light chain 1 612338 REc
20.136 5 22 07 20p11.23 DTD1, C20orf88 P D-tyrosyl-tRNA deacylase 1, S. cerevisiae, homolog of 610996 REc
20.137 6 11 13 20p12.1 FLRT3, HH21 P Fibronectin-like domain-containing leucine-rich transmembrane protein-3 604808 REc Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)
20.138 9 18 02 20p11.21 FOXA2, HNF3B C Forkhead box A2 (hepatic nuclear factor-3, beta) 600288 H, A 2(Hnf3b)
20.139 2 16 07 20p11.21 NANP, HDHD4 P N-acetylneuraminic acid phosphatase 610763 REc
20.140 2 11 08 20p11.22 NKX2-2, NKX2B P NK2, homeobox 2 604612 A
20.141 2 11 08 20p11.22 NKX2-4, NKX2D P NK2 homeobox 4 607808 R, H 2(Nkx2d)
20.142 7 11 01 20p12.1 OTOR C Otoraplin 606067 A, REc 2(Otor)
20.143 8 26 09 20p11.23 SNX5 P Sorting nexin 5 605937 R, REc
20.144 11 20 15 20p13 ITPA, EIEE35 C Inosine triphosphatase-A 147520 S [Inosine triphosphatase deficiency], 613850 (3); Epileptic encephalopathy, early infantile, 35, 616647 (3) 2(Itp)
20.145 4 10 97 20q11.22 MAP1ALC3, MAP1BLC3 P Microtubule-associated proteins 1A and 1B, light chain 3 601242 REa
20.146 2 21 11 20q11.22 AHCY, SAHH C S-adenosylhomocysteine hydrolase 180960 S, F ~13cM from ADA Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)
20.147 7 25 16 20p AD8 P Alzheimer disease 8 607116 Fd ?related to CST3 Alzheimer disease 8 (2)
20.148 10 12 09 20p ATOD3 P Dermatitis, atopic, 3 605804 Fd max lod at D20S115 {Dermatitis, atopic, susceptibility to, 3} (2)
20.149 12 11 02 20p13 P47 P p47, rat, homolog of 606610 REc
20.150 1 8 01 20q12 LPIN3 P Lipin 3 605520 REc 2(Lpin3)
20.151 4 30 15 20q13.33 OSBPL2, ORP2, KIAA0772, DNFA67 C Oxysterol-binding protein-like protein 2 606731 R, REc Deafness, autosomal dominant 67, 616340 (3)
20.152 6 26 01 20q13.12 PKIG P Protein kinase, cAMP-dependent catalytic, inhibitor gamma 604932 R
20.153 6 1 12 20q11.21 BPIFA1, PLUNC, SPLUNC1 P BPI fold-containing protein, family A, member 1 607412 H, REc 2(Plunc)
20.154 6 1 12 20q11.21 BPIFB2, BPIL1 P BPI fold-containing protein, family B, member 2 614108 Psh, R, REc
20.155 6 1 12 20q11.21 BPIFB6, BPIL3 P BPI fold-containing protein, family B, member 6 614110 Psh, R, REc
20.156 3 25 03 20q11.21 DEFB118, C20orf63, ESC42 P Defensin, beta, 118 607650 REc
20.157 1 15 96 20q11.21 ID1 P Inhibitor of DNA binding 1, dominant negative 600349 REa, A
20.158 12 19 01 20q11.22 NCOA6, ASC2, RAP250, NRC, PRIP P Nuclear receptor coactivator 6 605299 R, A
20.159 3 8 07 20q11.21 PDRG1, PDRG, C20orf126 P P53 and DNA damage-regulated 1 610789 REc 2(Pdrg1)
20.160 10 23 87 20q11.21 HCK P Hemopoietic cell kinase 142370 REb, A
20.161 7 18 06 20q11-q13 HYT5 P Hypertension, essential, susceptibility to, 5 610261 Fd {Hypertension, essential, susceptibility to, 5}, 145500 (2)
20.162 1 19 07 20q11-q13 SCAR6, CLA3 P Spinocerebellar ataxia, autosomal recessive 6 608029 Fd between D20S471 and D20S119 Spinocerebellar ataxia, autosomal recessive 6 (2)
20.163 11 5 14 20q11.21 DEFB119, DEFB120, DEFB20 P Defensin, beta, 119 615997 REc, H 2(Defb19)
20.164 11 5 14 20q11.21 DEFB121, DEFB21 P Defensin, beta, 121 616075 REc, H 2(Defb21)
20.165 11 5 14 20q11.21 DEFB122, DEFB22 P Defensin, beta, 122, pseudogene 616077 REc 2(Defb22)
20.166 11 4 15 20q11.21 DEFB123, DEFB23 P Defensin, beta, 123 616076 REc, H 2(Defb23)
20.167 7 20 12 20q11.21 FOXS1, FKHL18, FREAC10 P Forkhead box S1 602939 REa, A
20.168 8 27 01 20q11.21 MAPRE1, EB1 C Microtubule-associated protein, RP/EB family, member 1 603108 A, REc
20.169 5 26 13 20q11.22-q11.23 PHF20, GLEA2, HCA58 P PHD finger protein 20 610335 REc, Psh
20.170 11 30 11 20q11.22 ASIP, AGTIL, SHEP9 C Agouti, mouse, signaling protein 600201 Psh, A [Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3); [Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742 (3) 2(a)
20.171 5 11 01 20q11.21 C20orf1, P100 P Proliferation-associated nuclear protein, 100kD 605917 A
20.172 4 4 05 20q11.21-q11.22 CBFA2T2, MTGR1, EHT P Core-binding factor, runt domain, alpha subunit 2, translocated to, 2 (ETO homolog on chromosome 20) 603672 Psh, A
20.173 8 26 09 20q11.21 CDK5RAP1 P CDK5 regulatory subunit-associated protein 1 608200 R, REc
20.174 12 28 08 20q11.22 CEP2, CEP250, CNAP1 P Centrosomal protein 2 609689 R
20.175 9 24 08 20q11.2 CMM7 P Melanoma, cutaneous malignant, susceptibility to, 7 612263 Fd between rs910873 and rs1885120 {Melanoma, cutaneous malignant, 7} (2)
20.176 11 29 99 20q11.21 DNMT3B, ICF1 C DNA methyltransferase 3B 602900 A, Fd Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
20.177 7 1 98 20q11.22 E2F1 P E2F transcription factor-1 189971 A
20.178 10 3 07 20q11.22 EIF6, EIF3A, ITGB4BP P Eukaryotic translation initiation factor 6 602912 A
20.179 9 28 00 20p11.21 ENTPD6, CD39L2 P Ectonucleoside triphosphate diphosphohydrolase 6 603160 R, Psh
20.180 8 20 15 20q11.22 GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B C Growth/differentiation factor-5 (cartilage-derived morphogenetic protein-1) 601146 H, Fd mutation identified in 1 AMDHT family ?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3); Brachydactyly, type C, 113100 (3); Chondrodysplasia, Grebe type, 200700 (3); Du Pan syndrome, 228900 (3); Brachydactyly, type A2, 112600 (3); Symphalangism, proximal, 1B, 615298 (3); Multiple synostoses syndrome 2, 610017 (3); {Osteoarthritis-5}, 612400 (3); Brachydactyly, type A1, C, 615072 (3) 2(bp)
20.181 10 9 08 20q11.22 GGT7, GGTL3, GGTL5, GGT4 P Gamma-glutamyltransferase 7 612342 REc
20.182 8 24 98 20q11.23 GHRH, GHRF C Growth hormone releasing hormone (somatocrinin) 139190 REa, REb, Ch, Fd, A ?Isolated growth hormone deficiency due to defect in GHRF (1); Gigantism due to GHRF hypersecretion (1)
20.183 7 1 05 20q11.22 GSS, GSHS P Glutathione synthetase 601002 REa, A Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3); Glutathione synthetase deficiency, 266130 (3)
20.184 5 11 00 20q11.22 MMP25 P Matrix metalloproteinase 24 604871 A
20.185 11 27 00 20q11.22 PROCR, EPCR, CCCA, CCD41 P Protein C receptor 600646 R, A 2(Procr)
20.186 5 27 94 20q11.23 RBL1, CP107 P Retinoblastoma-like 1 (p107) 116957 A 2(Rbl1)
20.187 8 18 17 20q11.22 RBM12, KIAA0765, SCZD19 P RNA-binding motif protein 12 607179 A {Schizophrenia 19, susceptibility to}, 617629 (3)
20.188 1 4 16 20q11.23 SAMHD1, AGS5, DCIP, CHBL2 P SAM domain- and HD domain-containing protein 1 606754 REc mutation identified in 1 CHBL2 family Aicardi-Goutieres syndrome 5, 612952 (3); ?Chilblain lupus 2, 614415 (3)
20.189 9 21 15 20q11.21 SNTA1, SNT1, TACIP1, LQT12 C Syntrophin, alpha-1 601017 REa, Psh, A Long QT syndrome 12, 612955 (3) 2(Snta1)
20.190 11 22 16 20q11.21 SUN5, TSARG4, SPAG4L, SPGF16 P Sad1 and Unc84 domain-containing protein 5 613942 REc Spermatogenic failure 16, 617187 (3)
20.191 12 8 98 20q11.22 SPAG4 P Sperm-associated antigen-4 603038 A
20.192 6 27 17 20q11.22 TP53INP2, PIGU, DOR, C20orf110 P Tumor protein p53-inducible nuclear protein 2 617549 REc
20.193 12 2 09 20q11.23 BLCAP, BC10 P Bladder cancer-associated protein 613110 REc
20.194 8 20 08 20q11.23 CTNNBL1, NAP P Catenin, beta-like, 1 611537 REc 2(Ctnnbl1)
20.195 3 5 14 20q11.23 EPB41L1, MRD11 P Erythrocyte membrane protein band 4.1-like 1 602879 R, Psh mutation identified in 1 patient ?Mental retardation, autosomal dominant 11, 614257 (3)
20.196 3 31 09 20q11.2-q12 MLRL, MTS P Myeloid leukemia-related locus (myeloid tumor suppressor) 601308 Ch
20.197 10 15 98 20q11.23 NNAT P Neuronatin 603106 Psh, A 2(Nnat)
20.198 2 28 03 20q11.23 TGIF2 P Transforming growth factor-beta-induced factor 2 607294 A
20.199 1 12 95 20q11.23 TGM2 C Transglutaminase-2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) 190196 A, Psh
20.200 7 22 16 20q12 MAFB, KRML, MCTO, DURS3 P v-MAF musculoaponeurotic fibrosarcoma oncogene family, protein B 608968 REc Multicentric carpotarsal osteolysis syndrome, 166300 (3); Duane retraction syndrome 3, 617041 (3)
20.201 10 12 09 20q13.12 MMP9, CLG4B, MANDP2 C Matrix metalloproteinase 9 (gelatinase B, 92kD type IV collagenase) 120361 REa, Fd, H, A Metaphyseal anadysplasia 2, 613073 (3) 2(Clg4b)
20.202 11 4 14 20q13.12 ZNF335, NIF1, NIF2, MCPH10 P Zinc finger protein 335 610827 REc mutation identified in 1 MCPH10 family ?Microcephaly 10, primary, autosomal recessive, 615095 (3)
20.203 10 25 11 20q11.21 ASXL1, KIAA0978, BOPS, MDS P Additional sex combs-like 1 612990 A, REc Bohring-Opitz syndrome, 605039 (3); Myelodysplastic syndrome, somatic, 614286 (3)
20.204 3 17 03 20q11.21 BASE P Breast cancer- and salivary gland-expressed gene 607627 REc
20.205 3 1 10 20q11.21 BCL2L1, BCLX, BCLXL, BCLXS P BCL2-like 1 600039 REc
20.206 4 10 14 20q11.21 BPIFBP3, RYA3 P BPI fold-containing protein, family B, member 3 615717 REc 2(Bpifbp3)
20.207 4 10 14 20q11.21 BPIFB4, RY2G5 P BPI fold-containing protein, family B, member 4 615718 REc 2(Bpifb4)
20.208 12 22 15 20q11.21 COMMD7 P COMM domain-containing protein 7 616703 REc
20.209 5 4 09 20q11.21 COX4I2 P Cytochrome c oxidase, subunit IV, isoform 2 607976 REc Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3)
20.210 7 23 13 20q11.22 CHMP4B, SNF7, CTPP3, CTRCT31 C CHMP family, member 4B 610897 REc, Fd Cataract 31, multiple types, 605387 (3)
20.211 1 29 16 20q11.21 DUSP15, VHY C Dual-specificity phosphatase 15 616776 REn, REc
20.212 8 26 09 20q11.21 HM13, SPP P Minor histocompatibility 13 (signal peptide peptidase) 607106 R, REc
20.213 8 26 09 20q11.21 KIF3B, KIAA0359 P Kinesin family member 3B 603754 R, REc
20.214 8 3 12 20q11.21 PLAGL2 P Pleomorphic adenoma gene-like 2 604866 REc
20.215 7 23 13 20q11.21 POFUT1, OFUCT1, KIAA0180, DDD2 P Protein O-fucosyltransferase 1 607491 REc Dowling-Degos disease 2, 615327 (3)
20.216 6 2 16 20q11.21 REM1, GES P RRAD- and GEM-like GTPase 1 610388 REc, R
20.217 10 25 17 20q11.21 TM9SF4, KIAA0255 C Transmembrane 9 superfamily, member 4 617727 R, REc
20.218 9 19 00 20q11.23 NDRG3 P N-myc downstream-regulated gene 3 605273 REc, R
20.219 5 13 08 20q11.22 ACSS2, ACS P Acetyl-CoA synthetase short-chain family member 2 605832 R, REc
20.220 5 25 13 20q11.22 CPNE1, CPN1 P Copine I 604205 REc
20.221 5 24 13 20q11.22 EDEM2 P Endoplasmic reticulum degradation-enhancing alpha-mannosidase-like protein 2 610302 REc
20.222 6 2 16 20q11.22 ERGIC3, C2orf47 P Endoplasmic reticulum-golgi intermediate compartment protein 3 616971 REc
20.223 1 27 11 20q11.22 MIR499, MIRN499 P Micro RNA 499 613614 REc 2(Mir499)
20.224 3 1 06 20q11.22 MYH7B, MYH14, KIAA1512 C Myosin, heavy chain 7B, cardiac muscle, beta 609928 R, REc
20.225 12 17 08 20q11.22 NECAB3, EFCBP3, NIP1, APBA2BP, XB51, STIP3 P N-terminal EF-hand calcium-binding protein 3 612478 REc
20.226 3 5 18 20q11.22 NFS1, NIFS C Nitrogen fixation gene 1 603485 R, REc
20.227 4 27 16 20q11.22 PIGU, CDC91L1 C Phosphatidylinositol glycan anchor biosynthesis class U protein 608528 REc, REn
20.228 6 2 15 20q11.22 PXMP4, PMP24 P Peroxisomal membrane protein 4 616397 REc
20.229 10 2 12 20q11.22 RBM39, CAPER, RNPC2 P RNA binding motif protein 39 604739 REc, R
20.230 2 17 09 20q11.22 STQTL14 P Stature quantitative trait locus 14 612228 Fd associated with rs6060373 {Stature QTL 14} (2)
20.231 2 17 09 20q11.22 UQCC, CBP3, BFZB, C20orf44 P Ubiquinol-cytochrome C reductase complex chaperone 611797 REc
20.232 9 20 14 20q11.22 ITCH, AIP4, NAPP1, ADMFD P Itchy, mouse, homolog of 606409 A, R Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3) 2(Itch)
20.233 2 25 10 20q11.23 PPP1R16B, TIMAP, KIAA0823 P Protein phosphatase 1, regulatory subunit 16B 613275 REc
20.234 2 24 17 20q11.23 AAR2, C20orf4 P Aar2 splicing factor, S. cerevisiae, homolog of 617365 REc
20.235 2 13 13 20q11.23 ADIG, SMAF1 P Adipogenin 611396 REc 2(Smaf1)
20.236 2 4 15 20q11.23 DLGAP4, SAPAP4, KIAA0964 P Discs LARGE-associated protein 4 616191 REc noncoding RNAs transcribed from intron 1 are expressed in all tissues
20.237 2 2 16 20q11.23 DSN1, C20orf172 P DSN1 homolog, MIS12 kinetochore complex component 609175 REc
20.238 7 15 16 20q12 LINC01370, HILNC25 P Long intergenic noncoding RNA 1370 617038 REc
20.239 2 21 06 20q11.23 MYL9, MLC2 P Myosin light chain 9, regulatory 609905 R, REc
20.240 7 14 16 20q11.23 NORAD, LINC00657 P Noncoding RNA activated by DNA damage 617037 REc
20.241 7 18 12 20q11.23 RPRD1B, CREPT P Regulation of nuclear pre-mRNA domain-containing protein 1B 614694 REc
20.242 5 24 13 20q11.23 SCAND1, RAZ1, SDP1 P SCAN domain-containing 1 610416 REc
20.243 8 26 09 20q11.23 SLA2, SLAP2 P SRC-like adaptor 2 606577 R, REc
20.244 6 30 15 20q11.23 SLC32A1, VGAT, VIAAT P Solute carrier family 32 (GABA vesicular transporter), member 1 616440 REc
20.245 2 2 04 20q11.22 TRPC4AP, TRUSS P TRPC4-associated protein 608430 R, REc 2(Trpc4ap)
20.246 1 18 12 20q11.23 TTI1, KIAA0406 P TELO2-interacting protein 1 614425 R, REc
20.247 9 2 15 20q11.23 VSTM2L, C20orf102 P V-SET and transmembrane domains-containing protein 2-like 616537 REc
20.248 12 3 14 20q12 CHD6, CHD5, RIGB P Chromodomain helicase DNA-binding protein 6 616114 REc
20.249 4 25 93 20q11.23 BPI P Bactericidal/permeability-increasing protein 109195 REa, A
20.250 4 25 93 20q11.23 LBP P Lipopolysaccharide-binding protein 151990 REa, A
20.251 2 23 17 20q11-q13 MBCS P Mulchandani-Bhoj-Conlin syndrome 617352 Ch maternal uniparental disomy of imprinted region Mulchandani-Bhoj-Conlin syndrome, 617352 (3)
20.252 9 18 08 20q13.12 DBNDD2, HSMNP1 P Dysbindin domain-containing 2 611453 A
20.253 4 11 11 20q13.12 JPH2, JP2, CMH17 P Junctophilin 2 605267 A Cardiomyopathy, hypertrophic, 17, 613873 (3)
20.254 11 12 10 20q13.12 L3MBTL, L3MBTL1, KIAA0681 C L3MBT-like 608802 Psh, R
20.255 2 1 00 20q13.12 NCOA3, AIB1, TNRC14 P Nuclear receptor coactivator 3 (amplified in breast cancer-1) 601937 Pcm
20.256 12 23 16 20p13 TGM3, UHS2 P Transglutaminase-3 (E polypeptide, protein-glutamine-gamma-glutamyl transferase) 600238 Psh, A mutation identified in 1 UHS2 patient ?Uncombable hair syndrome 2, 617251 (3)
20.257 11 21 02 20q13.12 KCNK15, TASK5 C Potassium channel, subfamily K, member 15 607368 REc
20.258 5 27 94 20q13.12 PI3 P Protease inhibitor 3, skin derived (SKALP) 182257 REa, A
20.259 12 19 96 20q13.12 SDC4 P Syndecan 4 (amphiglycan, ryudocan) 600017 A, H 2(Sdc4)
20.260 10 4 05 20q12 ZHX3, KIAA0395 P Zinc finger and homeodomain protein-3 609598 R, REc
20.261 5 30 16 20q11.23 SRC, ASV, SRC1, THC6 C Protooncogene SRC, Rous sarcoma 190090 REa, A, REb mutation identified in 1 THC6 family Colon cancer, advanced, somatic, 114500 (3); ?Thrombocytopenia 6, 616937 (3) 2(Src)
20.262 3 29 99 20q13.12 WISP2 P Wnt-1 inducible signaling pathway protein 2 603399 R
20.263 10 13 14 20q13.12 HNF4A, TCF14, MODY1, FRTS4 C Hepatocyte nuclear factor 4, alpha (transcription factor-14) 600281 Fd, A MODY, type I, 125850 (3); {Diabetes mellitus, noninsulin-dependent}, 125853 (3); Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3) 2(Hnf4a)
20.264 3 1 00 20q12-q13.1 NIDDM3 P Noninsulin-dependent diabetes mellitus 3 603694 Fd {Diabetes mellitus, noninsulin-dependent}, 125853 (2)
20.265 7 12 94 20q12 PLCG1, PLC1 C Phospholipase C, gamma 1 (formerly subtype 148) 172420 REa, A, Fd
20.266 12 17 07 20q13.12 PLTP, HDLCQ9 C Phospholipid transfer protein 172425 REa, A [High density lipoprotein cholesterol level QTL 9] (3) 2(Pltp)
20.267 12 11 13 20q12-q13 PTPRT, KIAA0283 P Protein-tyrosine phosphatase, receptor-type, T 608712 REc, H 2(Ptprt)
20.268 12 10 91 20q11.23 RPN2 C Ribophorin II 180490 REa, A 2(Rpn2)
20.269 7 13 93 20q13.12 SEMG1, SEMG C Semenogelin 182140 A, REn
20.270 7 13 93 20q13.12 SEMG2 P Semenogelin II 182141 REn
20.271 12 22 15 20q13.12 SLC12A5, KCC2, KIAA1176, EIEE34, EIG14 C Solute carrier family 12, (potassium-chloride transporter) member 5 606726 R, A Epileptic encephalopathy, early infantile, 34, 616645 (3); {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3) 5(Slc12a5)
20.272 10 24 01 20q13.12 SLC13A3, NADC3 P Solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 606411 A
20.273 5 16 11 20q13.12 SPINT3 P Serin protease inhibitor, Kunitz-type, 3 613941 REc
20.274 5 26 05 20q12 TOP1 C Topoisomerase (DNA) I 126420 REa, A pseudogenes on chr.1 and 22 DNA topoisomerase I, camptothecin-resistant (3) 2(Top1)
20.275 3 22 06 20q13.12 WFDC12, WAP2, SWAM2 C Wap 4-disulfide core domain 12 609872 REc
20.276 5 28 09 20q11.22 DYNLRB1, DNCL2A, DNLC2A C Dynein, light chain, roadblock type, 1 607167 R
20.277 6 1 98 20q13.12 TNNC2 C Troponin C2, fast 191039 Psh, R
20.278 5 6 11 20q12-q13.12 PSMNSW P Parasomnia, sleepwalking type 613938 Fd between 55.6 and 61.4 cM Parasomnia, sleepwalking type (2)
20.279 7 1 11 20q13.12 CD40, TNFRSF5 C CD40 antigen 109535 A, D Immunodeficiency with hyper-IgM, type 3, 606843 (3) 2(Cd40)
20.280 1 12 05 20q13.12 WFDC5, PRG5, WAP1 C WAP 4-disulfide core domain 5 605161 REc
20.281 9 30 10 20q13.33 BHLHE23, BHLHB4 P Basic helix-loop-helix family, member E23 609331 A, REa, H 2(Bhlhb4)
20.282 6 3 98 20q13.13 CSE1L, CAS P Chromosome segregation-1, yeast, homolog of, like 601342 A
20.283 9 10 09 20q13.32 CTSZ C Cathepsin Z 603169 A, REc
20.284 6 3 15 20q13.33 EEF1A2, EIEE33, MRD38 P Eukaryotic translation elongation factor-1, alpha-2 602959 H, A Mental retardation, autosomal dominant 38, 616393 (3); Epileptic encephalopathy, early infantile, 33, 616409 (3) 2(wst, Eef1a2)
20.285 9 16 16 20q13.12 ELMO2, CED12, VMPI P Engulfment and cell motility gene 2 606421 REc Vascular malformation, primary intraosseous, 606893 (3)
20.286 9 7 04 20q13 GEVQ2 P Gene expression, variation in, quantitative trait locus on chromosome 20 608878 Fd {Gene expression, variation in, QTL} (2)
20.287 8 15 06 20q13 HPC3 P Prostate cancer, hereditary, 3 608656 Fd {Prostate cancer, susceptibility to, 3}, 176807 (2)
20.288 2 12 09 20q13 IBD24 P Inflammatory bowel disease 24 612566 Fd associated with rs2315008 and rs4809330 {Inflammatory bowel disease 24} (2)
20.289 5 21 99 20q13.13 KCNG1, KH2 P Potassium voltage-gated channel, subfamily G, member 1 603788 A
20.290 6 15 99 20q13.33 NTSR1 P Neurotensin receptor 162651 A 2(Ntsr1)
20.291 3 7 13 20q13.31 PMEPA1, TMEPAI P Prostate transmembrane protein, androgen-induced 606564 REc
20.292 8 24 09 20q13 PSORS12 P Psoriasis susceptibility 12 612950 Fd associated with rs495337 {Psoriasis susceptibility 12} (2)
20.293 12 24 08 20q13.13 RNF114, ZNF313 P Ring finger protein 114 612451 REc
20.294 5 31 06 20q13 SLEB8 P Systemic lupus erythematosus, susceptibility to, 8 610066 Fd {Systemic lupus erythematosus, susceptibility to, 8} (2)
20.295 8 20 01 20q13.32 TH1L, TH1 P TH1, Drosophila, homolog of 605297 REn
20.296 1 12 99 20q13.33 TNFRSF6B, DCR3 P Tumor necrosis factor receptor superfamily, member 6b (decoy receptor 3) 603361 R, Fd
20.297 3 17 06 20q13.12 ACOT8, PTE1 P Acyl-CoA thioesterase 8 608123 R, REc 2(Acot8)
20.298 3 1 06 20q13.12 CDH22 P Cadherin 22 609920 R, REc
20.299 9 12 92 20q13.13 CEBPB, TCF5 C CCAAT/enhancer-binding protein (C/EBP), beta (transcription factor-5) 189965 REa, A 2(Cebpb)
20.300 11 23 09 20q13.12 CTSA, PPGB, GSL, NGBE, GLB2 C Cathepsin A (protective protein for beta-galactosidase) 613111 S, A, Fd Galactosialidosis, 256540 (3) 2(Ppgb)
20.301 2 3 97 20q13.12 EYA2 C Eyes absent, Drosophila, homolog of, 2 601654 A, R 2(Eya2)
20.302 9 23 96 20q13.12 MYBL2, BMYB P v-myb avian myeloblastosis viral oncogene homolog-like 2 601415 A 2(Mybl2)
20.303 2 19 15 20q13.12 NCOA5, CIA P Nuclear receptor coactivator 5 616825 REc
20.304 5 2 06 20q13.12 SLC2A10, GLUT10, ATS C Solute carrier family 2 (facilitated glucose transporter), member 10 606145 REc, Fd Arterial tortuosity syndrome, 208050 (3)
20.305 10 22 99 20q13.13 SNAI1 P Snail 1, Drosophila, homolog of 604238 A, R pseudogene on 2q34
20.306 3 31 15 20q13.13 STAU1, STAU P Staufen, Drosophila, homolog of, 1 601716 A, REa
20.307 9 28 96 20q13.12 YWHAB P Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide 601289 A
20.308 11 29 99 20q13.13 B4GALT5 C Beta-1,4-galactosyltransferase 5 604016 Psh, TM previously mapped to chr.11
20.309 2 7 01 20q13.12 MATN4 P Matrilin 4 603897 A
20.310 1 7 09 20q13.13 PTPN1, PTP1B C Protein tyrosine phosphatase, nonreceptor-type, 1 176885 REa, A, H 20pter-q12 by REa {Insulin resistance, susceptibility to}, 125853 (3) 2(Ptpn1)
20.311 8 26 09 20q13.13 SPATA2, KIAA0757 P Spermatogenesis-associated protein 2 607662 R, REc
20.312 8 26 09 20q13.31 BMP7 C Bone morphogenetic protein-7 (osteogenic protein-1) 112267 REa, H 2(Bmp7)
20.313 11 21 06 20q13.12 SERINC3, TDE1 P Serine incorporator 3 607165 A
20.314 5 31 05 20q13.12 ADA C Adenosine deaminase 608958 S, D, REa, F, A, Fd Severe combined immunodeficiency due to ADA deficiency, 102700 (3); Adenosine deaminase deficiency, partial, 102700 (3) 2(Ada)
20.315 10 14 09 20q13.11 GRD2 C Graves disease, susceptibility to, 2 603388 Fd {Graves disease, susceptibility to, 2} (2)
20.316 12 19 11 20q13.11 SRSF6, SFRS6, SRp55 P Splicing factor, serine/arginine-rich, 6 601944 R, REc
20.317 12 20 02 20q13.13 PTGIS, CYP8A1, PGIS, CYP8 P Prostaglandin I2 synthase 601699 A Hypertension, essential, 145500 (3)
20.318 4 2 16 20q13.12 DNTTIP1, TDIF1, C20orf167 P Deoxynucleotidyltransferase, terminal, interacting protein 1 611388 REc
20.319 6 9 08 20q13.12 FIT2, C20orf142 P Fat-inducing transcript 2 612029 R, REc
20.320 8 30 16 20q13.12 IFT52 C Intraflagellar transport 52, Chlamydomonas, homolog of 617094 REc Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)
20.321 7 20 12 20q13.12 KCNS1, KV9.1 P Potassium channel, voltage-gated, delayed-rectifier, subfamily S, member 1 602905 REc
20.322 1 21 16 20q13.12 PIGT, NDAP, PNH2, MCAHS3 P Phosphatidylinositol glycan, class T 610272 REc, R mutation identified in 1 PNH2 family ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3); Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
20.323 11 24 14 20q13.12 RBPJL, RBPL, SUHL P RBPJ-like protein 616104 A, REc
20.324 8 8 13 20q13.12 SLPI, HUSI P Secretory leukocyte protease inhibitor 107285 REc 2(Slpi)
20.325 5 19 06 20q13.12 SULF2, KIAA1247 P Sulfatase 2 610013 REc 2(Sulf2)
20.326 9 9 09 20q13.12 SYS1 P Sys1 golgi-localized integral membrane protein, S. cerevisiae, homolog of 612979 REc
20.327 10 12 14 20q13.12 TOMM34, TOM34 P Translocase of outer mitochondrial membrane 34, yeast, homolog of 616049 REc
20.328 8 19 13 20q13.12 TOX2, GCX1, C20orf100 P TOX high mobility group box family member 2 611163 REc
20.329 10 31 17 20q13.12 TP53RK, PRPK, GAMOS4 C TP53-regulating kinase 608679 A, Psh, REc Galloway-Mowat syndrome 4, 617730 (3)
20.330 3 5 18 20q13.12 TP53TG5 P TP53 target gene 5 617316 REc
20.331 10 31 08 20q13.12 UBE2C, UBCH10 P Ubiquitin-conjugating enzyme E2C 605574 R, REc
20.332 6 27 17 20q13.12 WFDC2, HE4, WAP5 C WAP 4-disulfide core domain 2 617548 REc
20.333 4 10 14 20q13.12 ZMYND8, PRKCBP1 C Zinc finger MYND domain-containing protein 8 615713 REc, R
20.334 7 17 14 20q13.13 ADNP, ADNP1, KIAA0784, HVDAS, MRD28 P Activity-dependent neuroprotector homeobox 611386 REc, A Helsmoortel-van der Aa syndrome, 615873 (3)
20.335 8 17 09 20q13.13 ARFGEF2, BIG2, PVNH2 C ADP-ribosylation factor guanine nucleotide-exchange factor 2, brefeldin A-inhibited 605371 REa, Fd Periventricular heterotopia with microcephaly, 608097 (3)
20.336 11 15 08 20q13.13 BCAS4 P Breast carcinoma amplified sequence 4 607471 REc
20.337 10 28 15 20q13.13 DDX27, RHLP P DEAD box polypeptide 27 616621 REc
20.338 8 25 04 20q13.13 DPM1, MPDS, CDGIE P Dolichyl-phosphate mannosyltransferase 1, catalytic subunit 603503 REc, Fd Congenital disorder of glycosylation, type Ie, 608799 (3)
20.339 11 2 04 20q13.13 PARD6B P Partitioning-defective protein 6, C. elegans, homolog of, beta 608975 R, REc
20.340 5 13 02 20q13.13 PREX1, KIAA1415 P Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 606905 REc
20.341 5 4 09 20q13.13 SLC9A8, NHE8, KIAA0939 P Solute carrier family 9 (sodium/hydrogen exchanger), member 8 612730 REc
20.342 4 17 07 20q13.2 SALL4, HSAL4 C sal-like 4 607343 REc, Fd Duane-radial ray syndrome, 607323 (3); IVIC syndrome, 147750 (3)
20.343 10 15 98 20q13.2 BCAS1, NABC1 P Breast carcinoma amplified sequence 602968 REc
20.344 1 24 13 20q13.2 CBLN4 P Precerebellin 4 615029 REc
20.345 5 25 13 20q13.2-q13.3 CSTF1 P Cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD 600369 REc
20.346 2 28 03 20q13.31 CTCFL, BORIS P CCCTC-binding factor-like protein 607022 A
20.347 12 13 03 20q13.2 DOK5 P Docking protein 5 608334 REc
20.348 9 26 17 20q13.32 GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C, PITA3 C GNAS complex locus (guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1) 139320 REa, H, A, Fd Pseudohypoparathyroidism Ia, 103580 (3); McCune-Albright syndrome, somatic, mosaic 174800 (3); Pseudohypoparathyroidism Ic, 612462 (3); Osseous heteroplasia, progressive, 166350 (3); Pseudohypoparathyroidism Ib, 603233 (3); Pituitary adenoma 3, multiple types, somatic, 617686 (3); Pseudopseudohypoparathyroidism, 612463 (3); ACTH-independent macronodular adrenal hyperplasia, 219080 (3) 2(Gnas)
20.349 4 27 12 20q13.32 GNASAS1, GNASAS, SANG, NESPAS P GNAS antisense RNA 1 610540 REc Pseudohypoparathyroidism, type IB, 603233 (3)
20.350 10 24 14 20q13.13 KCNB1, EIEE26 P Potassium voltage-gated channel, Shab-related subfamily, member 1 600397 A, Fd Epileptic encephalopathy, early infantile, 26, 616056 (3) 2(Kcnb1)
20.351 7 22 09 20q13.2 MC3R, BMIQ9 C Melanocortin-3 receptor 155540 A {Obesity, severe, susceptibility to, BMIQ9}, 602025 (3); {Mycobacterium tuberculosis, protection against}, 607948 (3) 2(Mc3r)
20.352 7 9 06 20q13.2 PFDN4, C1 P Prefoldin 4 604898 R
20.353 8 26 09 20q13.12 SGK2 P Serum/glucocorticoid-regulated kinase 2 607589 R, REc
20.354 6 13 12 20q13.12 SPINLW1, EPPIN, WAP7 C Serine protease inhibitor-like protein with Kunitz and WAP domains 1 609031 REc 2(Spinlw1)
20.355 10 17 12 20q13.12 STK4, MST1, KRS2, TIIAC C Serine/threonine protein kinase 4 604965 R, REc T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3)
20.356 1 26 97 20q13.31 TFAP2C P Transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma) 601602 A 2(Tfap2c)
20.357 4 6 15 20q13.13 TMEM189, KUA P Transmembrane protein 189 610994 REc
20.358 7 27 11 20q13.2 TSHZ2 P Teashirt zinc finger homeobox 2 614118 REc
20.359 11 4 98 20q13.13 UBE2V1, UEV1 P Ubiquitin-conjugating enzyme E2 variant 1 602995 A
20.360 5 5 99 20q13.2 ZNF217 C Zinc finger protein-217 602967 REn
20.361 4 17 06 20q13.2 AURKA, STK15, AURORA2, BTAK, ARK1, STK6, AIK C Aurora kinase A 603072 H, REc {Colon cancer, susceptibility to}, 114500 (3)
20.362 7 19 04 20q13.33 CHRNA4, ENFL1 C Cholinergic receptor, nicotinic, alpha polypeptide-4 118504 REa, REn, A Epilepsy, nocturnal frontal lobe, 1, 600513 (3); {Nicotine addiction, susceptibility to}, 188890 (3) 2(Acra4)
20.363 6 2 16 20q13.2 CYP24A1, CYP24, HCINF1 C Cytochrome P450, family 24, subfamily A, polypeptide 1 (vitamin D 24-hydroxylase) 126065 A, REa Hypercalcemia, infantile, 1, 143880 (3) 2(Cyp24)
20.364 7 19 06 20q13.2-q13.3 DFNB65 P Deafness, autosomal recessive 65 610248 Fd max lod at D20S840 Deafness, autosomal recessive 65 (2)
20.365 1 25 11 20q13.32 EDN3, WS4B, HSCR4 C Endothelin-3 131242 REa, A Waardenburg syndrome, type 4B, 613265 (3); Central hypoventilation syndrome, congenital, 209880 (3); {Hirschsprung disease, susceptibility to, 4}, 613712 (3) 2(Edn3)
20.366 3 15 92 20q13.2-q13.3 EEGV1, EEGL P Electroencephalographic variant pattern 1 130180 Fd
20.367 3 30 18 20q13.33 GATA5, CHTD5 P GATA-binding protein 5 611496 REc, H Congenital heart defects, multiple types, 5, 617912 (3) 2(Gata5)
20.368 10 19 97 20q13.33 LAMA5 P Laminin, alpha-5 601033 A 2(Lama5)
20.369 2 14 97 20q13.2 NFATC2, NFATP P Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 2 600490 REa, A 2(Nfatp)
20.370 7 14 00 20q13.31 SPO11 P Spo11, S. cerevisiae, homolog of 605114 A 2(Spo11)
20.371 6 15 99 20q13.33 TPD52L2 P Tumor protein D52-like 2 603747 A
20.372 10 7 14 20q13.32 ATP5E, MC5DN3 P ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit 606153 R pseudogene on 4q25; mutation identified in 1 MC5DN3 patient ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3)
20.373 3 19 01 20q13.33 BIRC7, MLIAP, KIAP, LIVIN C Baculoviral IAP repeat-containing protein 7 605737 R, A
20.374 7 1 02 20q13.33 CDH4 P Cadherin 4 603006 R
20.375 6 3 02 20q13.33 COL9A3, EDM3, IDD C Collagen IX, alpha-3 polypeptide 120270 Fd, A, R Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3); {Intervertebral disc disease, susceptibility to}, 603932 (3)
20.376 9 14 95 20q13.33 GPR8 P G protein-coupled receptor-8 600731 A related sequence on 14
20.377 2 11 11 20q13.33 KCNQ2, EBN1, EIEE7, BFNS1 C Potassium voltage-gated channel, KQT-like subfamily, member 2 602235 REc, Fd Seizures, benign neonatal, 1, 121200 (3); Myokymia, 121200 (3); Epileptic encephalopathy, early infantile, 7, 613720 (3)
20.378 12 23 05 20q13.33 LIME1, LIME P LCK-interacting transmembrane adaptor 1 609809 REc, R
20.379 8 26 09 20q13.32 MIR296, MIRN296 P Micro RNA 296 610945 REc
20.380 12 17 01 20q11.21 MYLK2, MLCK P Myosin light chain kinase 2 606566 REc Cardiomyopathy, hypertrophic, 1, digenic, 192600 (3)
20.381 11 1 09 20q13.33 MYT1, PLPB1 P Myelin transcription factor 1 600379 REc, H 2(Myt1)
20.382 8 23 01 20q13.33 PPP1R3D, PPP1R6 P Protein phosphatase 1, regulatory subunit 3D 603326 R
20.383 7 11 11 20q13.33 PRIC285, PDIP1, KIAA1769 P Peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285kD subunit 611265 R, REc
20.384 3 14 13 20q13.33 PTK6, BRK P Protein-tyrosine kinase 6 602004 A
20.385 9 10 09 20q13.32 RAB22A P Ras-associated protein RAB22A 612966 R
20.386 11 11 14 20q13.33 RGS19, GAIP P Regulator of G protein signaling 19 605071 REc, H 2(Rgs19)
20.387 2 23 08 20q13.12 RIMS4 P Protein regulating synaptic membrane exocytosis 4 611601 REc 2(Rims4)
20.388 2 7 01 20q13.33 RPS21 P Ribosomal protein S21 180477 REa, R
20.389 6 1 15 20q13.33 RTEL1, C20orf41, NHL, KIAA1088, DKCB5, DKCA4, PFBMFT3 C Regulator of telomere elongation helicase 1 608833 REc, H Dyskeratosis congenita, autosomal recessive 5, 615190 (3); Dyskeratosis congenita, autosomal dominant 4, 615190 (3); Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3) 2(Rtel)
20.390 11 3 14 20q13.33 SLC17A9, C20orf59, POROK8 P Solute carrier family 17, member 9 612107 REc Porokeratosis 8, disseminated superficial actinic type, 616063 (3)
20.391 1 11 07 20q13.33 SS18L1, KIAA0693, CREST C SS18-like gene 1 606472 R, A
20.392 1 27 04 20q13.33 STMN3, SCLIP P Stathmin-like 3 608362 REc
20.393 5 2 06 20q13.32 VAPB, VAPC, ALS8 C Vesicle-associated membrane protein-associated protein B 605704 R, Fd Amyotrophic lateral sclerosis 8, 608627 (3); Spinal muscular atrophy, late-onset, Finkel type, 182980 (3)
20.394 12 22 08 20q13.31 RBM38, RNPC1 P RNA-binding motif protein 38 612428 REc
20.395 10 11 17 20q13.31 PCK1, PCKDC C Phosphoenolpyruvate carboxykinase-1 (soluble) 614168 REa, A, Fd mutation identified in 1 PCKDC family ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3) 2(Pck1)
20.396 12 2 09 20q13.32 TUBB1 P Tubulin, beta-1 612901 REc Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
20.397 8 23 02 20q13.31 ZBP1, C20orf183, DLM1 P Z-DNA binding protein 1 (tumor stroma and activated macrophage protein DLM1) 606750 REc
20.398 4 20 11 20q13.31-q13.33 MTBS3 P Mycobacterium tuberculosis, susceptibility to, 3 612929 Fd associated with rs3827103 {Mycobacterium tuberculosis, susceptibility to, 3} (2)
20.399 12 10 12 20q13.32 MIR298 P Micro RNA 298 614914 REc
20.400 7 16 12 20q13.32-q13.33 PHACTR3, SCAPININ P Phosphatase and actin regulator 3 608725 REc
20.401 12 10 08 20q13.32 STX16, SYN16 P Syntaxin 16 603666 REn, REc Pseudohypoparathyroidism, type IB, 603233 (3)
20.402 1 4 18 20q13.33 ADRM1, ARM1, RPN13 P Adhesion-regulating molecule 1 610650 R, REc
20.403 1 27 04 20q13.33 ARFGAP1 P ADP-ribosylation factor GTPase-activating protein 1 608377 REc
20.404 2 24 12 20q13.33 ARFRP1, ARP P ADP-ribosylation factor-related protein 1 604699 REc
20.405 9 22 17 20q13.33 CDH26 C Cadherin 26 617685 REc
20.406 11 4 05 20q13.33 DATF1, DIO1 P Death-associated transcription factor 1 604140 REc
20.407 1 5 12 20q13.33 DNAJC5, DNAJC5A, CSP, CLN4B P DNAJ/HSP40 homolog, subfamily C, member 5 611203 REc Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 (3)
20.408 10 11 17 20q13.33 GID8, C20orf11, TWA1 P GID complex, subunit 8 611625 R, REc
20.409 4 13 10 20q13.33 GLM6 P Glioma susceptibility 6 613031 Fd associated with rs6010620 {Glioma susceptibility 6} (2)
20.410 8 26 09 20q13.33 GMEB2, KIAA1269 P Glucocorticoid modulatory element-binding protein 2 607451 R, REc
20.411 4 18 07 20q13.33 GTPBP5, OBGH1 P GTP-binding protein 5 610919 R, REc
20.412 1 6 09 20q13.33 HAR1A, HAR1F P Highly accelerated region gene 1A 610556 REc
20.413 1 6 09 20q13.33 HAR1B, HAR1R P Highly accelerated region gene 1B 610557 REc
20.414 3 25 14 20q13.33 HRH3, GPCR97 P Histamine receptor H3 604525 REc
20.415 5 24 13 20q13.33 MIR1-1 P Micro RNA 1-1 609326 REc
20.416 5 24 13 20q13.33 MIR133A2 P Micro RNA 133A2 610255 REc 2(Mir133a2)
20.417 8 18 15 20q13.33 MRGBP, C20orf20 P MRG/MORF4L-binding protein 611157 R, REc
20.418 7 16 09 20q13.33 NKAIN4 P Na+/K+ transporting ATPase-interacting 4 612873 REc 2(Nkain4)
20.419 9 27 17 20q13.33 OPRL1, NOP P Opioid receptor-like 1 602548 REc
20.420 5 20 11 20q13.33 PRPF6, PRP6, ANT1, TOM, C20orf14 P Precursor mRNA-processing factor 6, S. cerevisiae, homolog of 613979 REc Retinitis pigmentosa 60, 613983 (3)
20.421 8 26 09 20q13.33 PSMA7 P Proteasome subunit, alpha-type, 7 606607 R, REc
20.422 12 4 08 20q13.33 SLCO4A1, OATPE, OATP4A1 P Solute carrier organic anion transporter family, member 4A1 612436 R, REc
20.423 6 2 15 20q13.33 SOX18, HLTS, HLTRS C SOX18, mouse, homolog of 601618 REa, R Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3); Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3) 2(Sox18, ragged)
20.424 12 5 17 20q13.33 SRMS, C20orf148 P Src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 617797 REc 2(Srms)
20.425 2 7 01 20q13.33 SYCP2, SCP2 P Synaptonemal complex protein 2 604105 A
20.426 8 26 09 20q13.33 TAF4, TAF2C1, TAFII130, TAF2C P TAF4 RNA polymerase II, TATA box-binding protein-associated factor, 135kD 601796 R, REc
20.427 3 26 07 20q13.33 UCKL1, UCK1L, URKL1 P Uridine/cytidine kinase-like 1 610866 REc
20.428 8 26 15 20q13.33 YTHDF1 P YTH N6-methyladenosine RNA-binding protein 1 616529 REc
20.429 7 20 12 20q13.33 ZBTB46, BZEL P Zinc finger- and BTB domain-containing protein 46 614639 REc
20.430 3 5 18 20q13.33 ZNF512B, KIAA1196 C Zinc finger protein 512B 617886 R, REc
20.431 10 23 87 Chr.20 HTL, LEUT, HLT P Leucine transport, high 151310 S
21.1 8 24 09 21p13-q11 AUTS12 P Autism, susceptibility to, 12 610838 Fd max lod at D21S1437 {Autism susceptibility 12} (2)
21.2 4 26 90 21p12 RNR4 C Ribosomal RNA-4 180453 A
21.3 11 16 17 21p11.2 BAGE1, BAGE P BAGE family, member 1 605167 REc previously assigned to chr.13
21.4 11 16 17 21p11.2 BAGE2 C BAGE family, member 2 617776 REc
21.5 11 16 17 21p11.2 BAGE3 P BAGE family, member 3 617777 REc
21.6 2 27 01 21p11.2 TPTE P Transmembrane phosphatase with tensin homology 604336 REc, A
21.7 12 21 98 21q11.2-q21.1 NRIP1, RIP140 C Nuclear receptor interacting protein 1 (receptor interacting protein 140) 602490 A, REc
21.8 3 5 96 21q11.2 STCH P Stress 70 protein chaperone, microsome-associated, p60 601100 A
21.9 9 16 12 21q11.2 ABCC13 P ATP-binding cassette, subfamily C, member 13 608835 REc
21.10 10 27 99 21q21.1 CXADR, CAR P Coxsackie virus and adenovirus receptor 602621 Psh, A pseudogenes on chr.15 and chr.18
21.11 3 31 05 21q11.2 LIPI, LPDL, PRED5 P Lipase I 609252 REc {Hypertriglyceridemia, susceptibility to}, 145750 (3) 16(Lipi)
21.12 12 15 04 21q11.2 NRCLP3 P Narcolepsy 3 609039 Fd max lod at D21S1245 Narcolepsy 3 (2)
21.13 6 7 10 21q11.2 POTED, ANKRD21, POTE P POTE ankyrin domain family, member D 607549 REc, A
21.14 4 12 18 21q11.2 RBM11 P RNA-binding motif protein 11 617937 REc
21.15 7 24 03 21q11.2 SAMSN1, HACS1 P SAM domain, SH3 domain, and nuclear localization signals 1 607978 REc
21.16 3 26 96 21q11.2 TAM, MST P Myeloproliferative syndrome, transient (transient abnormal myelopoiesis) 159595 Ch Leukemia, transient, of Down syndrome (2)
21.17 3 5 08 21q21.3 MRPL39, MRPL5 P Mitochondrial ribosomal protein L39 611845 R, REc
21.18 2 27 01 21q21.1 BTG3, ANA, TOB5 P B-cell translocation gene 3 605674 A
21.19 4 17 12 21q21.3 APP, AAA, CVAP, AD1 C Amyloid beta (A4) precursor protein 104760 REa, A, Fd, RE proximal to SOD; very distal q21 or boundary with q22 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3); Alzheimer disease 1, familial, 104300 (3) 16(App)
21.20 4 1 15 21q21.1 CHODL P Chondrolectin 607247 A
21.21 11 6 00 21q21.1 NCAM2 P Cell adhesion molecule, neural, 2 602040 Psh
21.22 1 28 02 21q21.1 PRSS7, ENTK C Protease, serine, 7 (enterokinase) 606635 A Enterokinase deficiency, 226200 (3)
21.23 6 13 07 21q21.3 TAK1L, C21orf7 P TAK1-like 611110 REc
21.24 5 29 98 21q21 USH1E P Usher syndrome-1E, autosomal recessive, severe 602097 Fd Usher syndrome, type 1E (2)
21.25 2 1 01 21q21.3 ADAMTS5, ADAMTS11 P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 5 (aggrecanase 2) 605007 REa, R 16(Adamts5)
21.26 10 17 95 21q21.3 GABPA, E4TF1A C GA-binding protein transcription factor, alpha subunit, 60kD 600609 A, REn, Psh, REc
21.27 12 6 16 21q21.1 MIR99A P Micro RNA 99A 614509 REc
21.28 9 20 14 21q21.1 MIR99AHG, MONC, LINC00478 P MIR99A-LET7C cluster host gene, noncoding 615964 REc
21.29 3 23 09 21q21.1 MIR125B2, MIRN125B2 P Micro RNA 125B-2 610105 REc
21.30 3 23 09 21q21.1 MIRLET7C, MIRNLET7C, LET7C P Micro RNA Let7c 612144 REc
21.31 1 29 01 21q21.3 ADAMTS1, METH1 P A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 1 605174 REc
21.32 4 29 02 21q21.3 JAM2, VEJAM P Junctional adhesion molecule 2 606870 REc
21.33 2 1 11 21q21.3 ATP5J, ATP5 P ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6 603152 REc 9(Atp5j)
21.34 11 29 17 21q21.3 CCT8, KIAA0002 C Chaperonin containing T-complex polypeptide 1, subunit 8 617786 Psh, REc
21.35 6 27 16 21q21.3 CLDN17 P Claudin 17 617005 REn
21.36 10 12 14 21q21.3 CYYR1 C Cysteine/tyrosine-rich protein 1 616020 R, REc, H 16(Cyyr1)
21.37 10 12 14 21q21.3 CYYR1AS1, CYYR1-AS1 P CYRR1 antisense RNA 1 616021 REc
21.38 3 23 09 21q21.3 MIR155, BIC, MIRN155 C Micro RNA 155 609337 REc
21.39 4 2 12 21q21.3 N6AMT1 P N6 adenine-specific DNA methyltransferase 1, putative 614553 REc
21.40 12 10 13 21q21.3 USP16, UBPM P Ubiquitin-specific protease 16 604735 REc
21.41 4 24 08 21q22.11 MRPS6 P Mitochondrial ribosomal protein S6 611973 R, REc
21.42 5 28 13 21q22.3 FAM3B P Family with sequence similarity 3, member B 608617 REc 16(Fam3b)
21.43 8 20 08 21q22 FEB7 P Febrile seizures, familial, 7 611515 Fd max lod at D21S1910 Febrile seizures, familial, 7 (2)
21.44 3 1 94 21q21.3 GRIK1, GLUR5 C Glutamate receptor, ionotropic, kainate 1 138245 REc, REa, A, Fd 16(Glur5)
21.45 12 27 01 21q22.11 HUNK L Hormonally upregulated NEU-associated kinase 606532 H 16(Hunk)
21.46 9 28 11 21q22.3 RRP1B, KIAA0179, NNP1L P Ribosomal RNA-processing protein 1, S. cerevisiae, homolog of, B 610654 Psh, REc
21.47 3 27 95 21q22.11 SLC5A3 P Solute carrier family 5 (inositol transporter), member 3 600444 A ?role in Down syndrome
21.48 6 24 05 21q22 TUKLS P Tukel syndrome 609428 Fd max lod at D21S1259 Tukel syndrome (2)
21.49 11 28 01 21q21.3 BACH1 P BTB and CNC homology 1 602751 REc
21.50 1 12 11 21q22.11 CRFB4, IBD25 C Cytokine receptor, family II, member 4 123889 Fd, REn 35kb distal to IFNAR; D21S58 {Hepatitis B virus, susceptibility to}, 610424 (3); Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3) 16(Crfb4)
21.51 6 18 99 21q22.11 CRYZL1 P Crystallin, zeta-like 1 603920 A
21.52 8 4 17 21q22.11 DONSON, C21orf60, MISSLA, MIMIS P Downstream neighbor of SON 611428 REc, H Microcephaly-micromelia syndrome, 251230 (3); Microcephaly, short stature, and limb abnormalities, 617604 (3)
21.53 11 29 11 21q22.13 DYRK1A, MNBH, MNB, MRD7 C Dual specificity tyrosine-(Y)-phosphorylation regulated kinase-1A (\'minibrain\', Drosophila, homolog of) 600855 REn, H, REc ?triplicate state responsible for mental defect in Down syndrome Mental retardation, autosomal dominant 7, 614104 (3) 16(mmb)
21.54 6 3 94 21q22.11 GART, PRGS, PGFT C Phosphoribosylglycinamide formyltransferase (phosphoribosylglycinamide synthetase; phosphoribosylaminoimidazole synthetase) 138440 S, H, REa multifunctional protein: Ade(-)C, Ade(-)G, GART 16(Prgs)
21.55 2 20 03 21q22.13 HLCS, HCS C Holocarboxylase synthetase 609018 Psh, A Holocarboxylase synthetase deficiency, 253270 (3) 16(Hlcs)
21.56 8 24 98 21q22.11 IFNAR1 C Interferon, alpha, beta and omega, receptor 1 107450 S, D, A, REn 16(Ifrc)
21.57 12 2 15 21q22.11 IFNAR2, IMD45 C Interferon, alpha, beta, and omega, receptor 2 602376 REa, REc mutation identified in 1 IMD45 family {Hepatitis B virus, susceptibility to}, 610424 (3); ?Immunodeficiency 45, 616669 (3)
21.58 1 14 11 21q22.11 KCNE2, MIRP1, LQT6, ATFB4 C Potassium voltage-gated channel, Isk-related family, member 2 603796 RE Long QT syndrome 6, 613693 (3); Atrial fibrillation, familial, 4, 611493 (3)
21.59 3 30 15 21q22.13 KCNJ6, GIRK2, KCNJ7, KPLBS P Potassium inwardly-rectifying channel, subfamily J, member 6 600877 A Keppen-Lubinsky syndrome, 614098 (3) 16(Kcnj6)
21.60 2 10 05 21q22.11 MRAP, FALP, C21orf61, GCCD2, FGD2 C Melanocortin 2 receptor accessory protein 609196 REc, Fd Glucocorticoid deficiency 2, 607398 (3)
21.61 1 23 18 21q21.3 RWDD2B, C21orf6 P RWD domain-containing protein 2B 617843 REc
21.62 9 21 12 21q22.11 SOD1, ALS1 C Superoxide dismutase-1, soluble 147450 S, D, Fd mid q22.1 Amyotrophic lateral sclerosis 1, 105400 (3) 16(Sod1)
21.63 1 27 04 21q22.11 TCP10L P T-complex protein 10-like 608365 REc
21.64 2 15 96 21q22.11 TIAM1 P T-cell lymphoma invasion and metastasis 1 600687 REc, H 16(Tiam1)
21.65 9 16 12 21q22.11 URB1, NPA1, C21orf108, KIAA0539 P URB1 ribosome biogenesis 1 homolog (S. cerevisiae) 608865 REc, R
21.66 12 13 95 21q22.11 ATP5O P ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (oligomycin sensitivity conferring protein) 600828 REa, A
21.67 9 8 14 21q22.11 IFNGR2, IFNGT1, IFGR2, IMD28 C Interferon gamma receptor-2 (interferon gamma transducer 1) 147569 S, A Immunodeficiency 28, mycobacteriosis, 614889 (3) 16(Ifgr2)
21.68 11 19 98 21q22.11 ITSN1, SH3D1A, SH3P17 P Intersectin 1 (SH3 domain protein-1A) 602442 REc
21.69 1 14 11 21q22.12 KCNE1, JLNS, LQT5, JLNS2 C Potassium voltage-gated channel, Isk-related subfamily, member 1 176261 REa, A, Psh, Fd Jervell and Lange-Nielsen syndrome 2, 612347 (3); Long QT syndrome 5, 613695 (3)
21.70 8 1 17 21q22.13 PIGP, DSCR5, EIEE55 P Phosphatidylinositol glycan, class P 605938 REc mutation identified one EIEE55 family ?Epileptic encephalopathy, early infantile, 55, 617599 (3) 16(Dscr5)
21.71 9 24 08 21q22.12 RCAN1, DSCR1, MCIP1, CSP1 C Regulator of calcineurin 1 602917 REc 16(Rcan1)
21.72 11 23 16 21q22.11 SON, TOKIMS P SON DNA-binding protein 182465 Psh ZTTK syndrome, 617140 (3)
21.73 11 11 13 21q22.11 C21orf59, CILD26 P Chromosome 21 open reading frame 59 615494 REc Ciliary dyskinesia, primary, 26, 615500 (3)
21.74 5 26 13 21q22.11 CLDN8 P Claudin 8 611231 REc
21.75 12 21 09 21q22.11 KRTAP11-1, HACL1 P Keratin-associated protein 11-1 600064 REc, H 16(Krtap11-1)
21.76 11 13 13 21q22.11 KRTAP13-1 P Keratin-associated protein 13-1 608718 REc
21.77 9 29 10 21q21.3 LTN1, RNF160, KIAA0714 P Listerin E3 ubiquitin protein ligase 1 613083 R, REc 16(Rnf160)
21.78 9 20 14 21q22.11 OLIG1 P Oligodendrocyte lineage transcription factor 1 606385 REc
21.79 3 11 08 21q22.11 OLIG2, PRKCBP2 P Oligodendrocyte lineage transcription factor 2 606386 R, REc
21.80 8 28 17 21q22.11 PAXBP1, GCFC1, C21orf66 P PAX3- and PAX7-binding protein 1 617621 REc
21.81 9 30 14 21q22.11 SCAF4, KIAA1172 P SR-related C-terminal domain-associated factor 4 616023 R, REc
21.82 3 1 18 21q22.11 TMEM50B, C21orf4 P Transmembrane protein 50B 617894 REc
21.83 8 24 98 21q22.12 CBR1 C Carbonyl reductase 1 114830 REa, Fd, A 16(Cbr1)
21.84 7 22 13 21q22.12 CLIC6, CLIC1L P Chloride intracellular channel 6 615321 REc
21.85 11 24 14 21q22.12 MIR802 P Micro RNA 802 616090 REc
21.86 3 24 14 21q22.12 MORC3, NXP2 P MORC family CW-type zinc finger 3 610078 Psh, REc
21.87 10 11 05 21q22.13 MAFD3, BPEO P Major affective disorder 3 609633 Fd max lod at D21S1252 {Major affective disorder 3, early onset} (2)
21.88 3 22 06 21q22.13-qter BMND6 P Bone mineral density QTL 6 609876 Fd max lod at D21S1446 [Bone mineral density QTL 6] (2)
21.89 9 12 96 21q22.12-q22.13 CAF1A P Chromatin assembly factor I, p60 subunit 601245 REn, Psh
21.90 2 6 01 21q22.12 CBR3 P Carbonyl reductase 3 603608 REc
21.91 8 25 09 21q22.12 DOPEY2, 21orf5, KIAA0933 P Dopey family member 2 604803 REc
21.92 5 11 00 21q22.13 DSCR4, DSCRB P Down syndrome critical region gene 4 604829 REc
21.93 3 22 06 21q22.13 DSCR6, RIPPLY3 P Down syndrome critical region gene 6 609892 REc
21.94 6 7 10 21q22.13 DSCR8, MMA1 P Down syndrome critical region gene 8 613396 REc
21.95 12 29 06 21q22.2 JAM4 P Junctional adhesion molecule 4 610638 R, REc
21.96 3 20 98 21q22.1-q22.2 KCNJ15 P Potassium inwardly-rectifying channel, subfamily J, member 15 602106 REf
21.97 7 31 97 21q22.13 SIM2 P Single-minded, Drosophila, homolog of, 2 600892 REc
21.98 3 9 17 21q22.11 SYNJ1, PARK20, EIEE53 P Synaptojanin 1 604297 A Parkinson disease 20, early-onset, 615530 (3); Epileptic encephalopathy, early infantile, 53, 617389 (3) 16(Synj1)
21.99 1 13 99 21q22.13 TTC3, TPRD P Tetratricopeptide repeat domain 3 602259 REc
21.100 12 22 17 21q22.2 BRWD1, WRD9, C21orf107 P Bromodomain and WD repeat domain-containing protein 1 617824 REc, H 16(Brwd1)
21.101 1 15 08 21q22.2 C21orf24 P Chromosome 21 open reading frame 24 611723 REc
21.102 4 17 98 21q22.2 DSCAM P Down syndrome cell adhesion molecule 602523 REc
21.103 3 28 90 21q22.3 S100B C S100 calcium-binding protein, beta (neural) 176990 REa, A 10(S100b)
21.104 10 29 99 21q22.3 ABCG1, ABC8, WHITE1 P ATP-binding cassette, subfamily G, member 1 (white, Drosophila, homolog of) 603076 A 17(Abc8)
21.105 2 25 98 21q22.3 ADARB1, RED1 C Adenosine deaminase, RNA-specific, B1 (RED1, rat, homolog of) 601218 Psh, REc
21.106 9 2 12 21q22.3 AGPAT3, LPAAT3 C 1-acylglycerol-3-phosphate O-acyltransferase 3 614794 REc
21.107 3 11 09 21q22.3 AIRE, APECED, APS1 C Autoimmune regulator 607358 Fd Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
21.108 5 23 00 21q22.2 B3GALT5, GLCT5 P UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5 604066 REc
21.109 2 20 01 21q22.2-q22.3 BACE2, ALP56, DRAP C Beta-site amyloid beta A4 precursor protein-cleaving enzyme 2 (Down syndrome region aspartic protease) 605668 REc, A
21.110 8 2 17 21q22.3 C2CD2, TMEM24L, C21orf25 P C2 calcium-dependent domain-containing protein 2 617581 REc
21.111 6 28 17 21q22.3 C21orf2, SMDAX, RDMS P Chromosome 21 open reading frame 2 603191 REn Spondylometaphyseal dysplasia, axial, 602271 (3); Retinal dystrophy with macular staphyloma, 617547 (3)
21.112 12 19 08 21q22.3 C21orf56 P Chromosome 21 open reading frame 56 612412 REc
21.113 6 7 10 21q22.3 CBS C Cystathionine beta-synthase 613381 S, D, A, Fd subtelomeric Homocystinuria, B6-responsive and nonresponsive types, 236200 (3); Thrombosis, hyperhomocysteinemic, 236200 (3) 17(Cbs)
21.114 7 1 11 21q22.13 CLDN14, DFNB29 C Claudin 14 605608 REc, Fd Deafness, autosomal recessive 29, 614035 (3)
21.115 7 20 15 21q22.3 COL6A1, BTHLM1, UCHMD1 C Collagen VI, alpha-1 polypeptide 120220 REa, A, REn, Fd Bethlem myopathy 1, 158810 (3); Ullrich congenital muscular dystrophy 1, 254090 (3) 10(Col6a1)
21.116 7 20 15 21q22.3 COL6A2, BTHLM1, UCMD1 C Collagen VI, alpha-2 polypeptide 120240 REa, A, REn, Fd mutation identified in 1 MYSCL family Bethlem myopathy 1, 158810 (3); Ullrich congenital muscular dystrophy 1, 254090 (3); ?Myosclerosis, congenital, 255600 (3) 10(Col6a2)
21.117 5 28 08 21q22.3 COL18A1, KNO1 C Collagen XVIII, alpha-1 polypeptide 120328 A, Fd Knobloch syndrome, type 1, 267750 (3) 10(Col18a1)
21.118 5 24 13 21q22.3 CRYAA, CRYA1, CTRCT9 C Crystallin, alpha A 123580 REa, A, RE, Fd Cataract 9, multiple types, 604219 (3) 17(Crya1)
21.119 12 7 11 21q22.3 CSTB, STFB, EPM1, PME, EPM1A, ULD P Cystatin B (stefin B) 601145 REn Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)
21.120 9 16 96 21q22.3 DCR, DSCR C Down syndrome chromosome region 190685 Ch many genes are involved in this phenotype Down syndrome (4)
21.121 8 29 07 21q22.3 DIP2, KIAA0184 C Disco-interacting protein 2, Drosophila, homolog of 607711 REc previously mapped to Chr.2 10(Dip2)
21.122 1 7 02 21q22.3 DNMT3L P DNA methyltransferase 3-like protein 606588 REc
21.123 2 1 01 21q22.13 DSCR3, DSCRA P Down syndrome critical region gene 3 605298 REn
21.124 10 15 94 21q22.2 ERG C Erythroblastosis virus E26, avian, (v-ets) oncogene related 165080 REa, Fd, A fused with EWS in Ewing sarcoma, with FUS in leukemia
21.125 7 6 99 21q22.3 ES1, HES1, GT335, C21orf33 C ES1, zebrafish, protein, homolog of 601659 REc
21.126 3 18 91 21q22.2 ETS2 C Oncogene ETS-2 164740 REa, A, Fd proximal q22.3 16(Ets2)
21.127 8 22 03 21q22.3 FTCD C Formiminotransferase cyclodeminase 606806 R Glutamate formiminotransferase deficiency, 229100 (3) 10(Ftcd)
21.128 8 28 02 21q22.2 HMGN1, HMG14 C High-mobility group nucleosomal binding protein 1 163920 REa, Fd, A
21.129 4 9 96 21q22.3 HPE1 P Holoprosencephaly-1, alobar 236100 Ch, REa Holoprosencephaly 1 (2)
21.130 10 19 97 21q22.3 HRMT1L1, PRMT2 P HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1 601961 REa, REc
21.131 2 6 01 21q22.3 HSF2BP P Heat-shock transcription factor 2-binding protein 604554 REc
21.132 8 25 09 21q22.3 ICOSLG, B7H2, GL50, B7RP1 P Inducible T-cell co-stimulator ligand 605717 R, REc
21.133 7 11 16 21q22.3 LINC00163, NCRNA00163, NLC1A P Long intergenic nonprotein coding RNA 163 610259 Fd, REc
21.134 12 26 13 21q22.3 MCM3AP, MAP80, GANP C Minichromosome maintenance 3-associated protein, 80-kD 603294 R, A
21.135 2 6 01 21q22.3 PDXK, PNK, PKH P Pyridoxal kinase 179020 REc
21.136 5 24 13 21q22.3 POFUT2, C21Orf80, KIAA0958 C Protein O-fucosyltransferase 2 610249 R, REc
21.137 1 23 96 21q22.3 ITGB2, CD18, LCAMB, LAD C Integrin, beta-2 (antigen CD18 (p95), lymphocyte function-associated antigen-1; macrophage antigen, beta polypeptide) 600065 S, A, Fd common subunit for CR3, LFA1, and P150,95 Leukocyte adhesion deficiency, 116920 (3) 7(Ly15)
21.138 8 11 17 21q22.3 LRRC3, C21orf102, C21orf30 P Leucine-rich repeat-containing protein 3 617620 REc
21.139 8 7 15 21q22.3 LSS, OSC, CTRCT44 P Lanosterol synthase 600909 REa, REc Cataract 44, 616509 (3)
21.140 3 18 91 21q22.3 MX1, MX, IFI78 C Myxovirus (influenza) resistance-1 (interferon induced protein p78) 147150 REa, D, Fd 16(Mx1)
21.141 8 25 09 21q22.3 MX2 P Myxovirus (influenza) resistance-2 147890 REa, REc 16(Mx2)
21.142 8 20 98 21q22.3 NDUFV3 C NADH-ubiquinone oxidoreductase flavoprotein 3, 10kD 602184 A, REc
21.143 3 16 05 21q22.3 PCBP3 P Poly(rC)-binding protein 3 608502 REc 10(Pcbp3)
21.144 11 11 10 21q22.3 PCNT, PCNT2, KEN, SCKL4, MOPD2 C Pericentrin 605925 Psh, A, Fd Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
21.145 8 15 97 21q22.2 PCP4 C Purkinje cell protein 4 601629 REc, Psh, A 16(Pcp4)
21.146 6 18 99 21q22.3 PDE9A, HSPDE9A2 P Phosphodiesterase 9A 602973 Psh, REc
21.147 3 18 91 21q22.3 PFKL C Phosphofructokinase, liver type 171860 S, D, Fd Hemolytic anemia due to phosphofructokinase deficiency (1) 17(Pfkl)
21.148 11 23 16 21q22.3 PICSAR, LINC00162, NLC1C P p38-inhibited cutaneous squamous cell carcinoma-associated long intergenic noncoding RNA 617191 REc
21.149 6 18 99 21q22.3 PKNOX1 P PBX/knotted 1 homeo box 1 602100 Psh, Fd, A 17(Pknox1)
21.150 2 24 11 21q22.2 PLAC4 P Placenta-specific gene 4 613770 REc
21.151 9 18 17 21q22.3 PRDM15, ZNF298 P PR domain-containing protein 15 617692 REc
21.152 9 24 08 21q22.2 PSMG1, DSCR2, C21LRP P Proteasome (prosome, macropain) assembly chaperone 1 605296 REn
21.153 8 8 00 21q22.3 PTTG1IP, C21orf1, C21orf3, PBF P Pituitary tumor-transforming gene 1 protein-interacting protein 603784 A, TM
21.154 1 26 97 21q22.3 PWP2H, PWP2 P PWP2 periodic tryptophan protein, yeast, homolog of 601475 RE
21.155 12 29 15 21q22.3 RIPK4, NKRD3, DIK, PPS2 P Receptor-interacting serine-threonine kinase 4 605706 REc Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
21.156 11 1 13 21q22.3 RSPH1, TSGA2, TSA2, CILD24 P Radial spoke head 1, Chlamydomonas, homolog of 609314 R Ciliary dyskinesia, primary, 24, 615481 (3) 17(Tsa2)
21.157 8 23 09 21q22.12 RUNX1, CBFA2, AML1 C Runt-related transcription factor 1 (aml1 oncogene) 151385 Ch, Fd Leukemia, acute myeloid, 601626 (3); Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)
21.158 1 19 98 21q22.2 SH3GBR P SH3 domain binding glutamic acid-rich protein 602230 REc
21.159 10 17 95 21q22.3 SLC19A1, FOLT P Solute carrier family 19 (folate transporter), member 1 600424 REa, A
21.160 9 16 03 21q22.3 SLC37A1, G3PP P Solute carrier family 37 (glycerol-3-phosphate transporter), member 1 608094 REc
21.161 4 30 15 21q22.3 SIK1, SNF1LK, MSK, EIEE30 P Salt-inducible kinase 1 605705 REc Epileptic encephalopathy, early infantile, 30, 616341 (3)
21.162 8 25 04 21q22.3 SUMO3, SMT3H1 P Small ubiquitin-like modifier 3 602231 REc
21.163 10 15 96 21q22.3 TFF1, BCEI C Trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in) 113710 REa, A, Fd
21.164 8 24 98 21q22.3 TFF2, SML1 C Trefoil factor 2 (spasmolytic protein-1) 182590 A, REn, REa within 230kb of BCEI
21.165 4 9 96 21q22.3 TFF3, ITF C Trefoil factor 3 (intestinal) 600633 Psh, A, REn 17(Tff3)
21.166 2 25 98 21q22.3 TMEM1, EHOC1 C Transmembrane protein 1 602103 REc near PWP2H
21.167 6 9 98 21q22.3 TMPRSS2 P Transmembrane protease, serine 2 602060 Psh, REc
21.168 1 9 13 21q22.3 TMPRSS3, ECHOS1, DFNB8, DFNB10 C Transmembrane protease, serine 3 605511 Fd, REc Deafness, autosomal recessive 8/10, 601072 (3)
21.169 6 18 99 21q22.3 TRPM2, TRPC7, KNP3 P Transient receptor potential cation channel, subfamily M, member 2 603749 REf
21.170 3 9 18 21q22.3 TSPEAR, C21orf29, DFNB98 P Thrombospondin-type laminin G domain and EAR repeats 612920 REc, Fd mutation identified in 1 DFNB98 family ?Deafness, autosomal recessive 98, 614861 (3)
21.171 9 28 96 21q22.3 U2AF1 P U2(RNU2) small nuclear RNA auxillary factor 1 191317 A, REa
21.172 10 26 98 21q22.3 UBE2G2, UBC7 C Ubiquitin-conjugating enzyme E2G 2 603124 Psh
21.173 3 16 01 21q22.3 UBASH3A P Ubiquitin-associated and SH3 domain-containing protein A 605736 REc
21.174 4 6 11 21q22.3 UMODL1 P Uromodulin-like 1 613859 REc
21.175 5 25 01 21q22.3 WDR4 P WD repeat-containing protein 4 605924 REf
21.176 5 5 99 21q22.2 WRB, CHD5 P Tryptophan-rich basic protein 602915 REc, REn
21.177 8 26 15 21q22.3 ZBTB21, ZNF295, KIAA1227 P Zinc finger- and BTB domain-containing protein 21 616485 REc
21.178 10 23 87 Chr.21 BAS L Beta-adrenergic stimulation, response to 109670 D
21.179 10 23 87 Chr.21 HTOR L 5-hydroxytryptamine oxygenase regulator 143460 D
21.180 4 26 17 21q22.3 YBEY, C21orf57 P YBEY metallopeptidase 617461 REc
22.1 4 26 90 22p12 RNR5 C Ribosomal RNA-5 180454 A
22.2 8 20 92 22q11.1 ZNF72 P Zinc finger protein-72 (Cos8) 194546 REa
22.3 8 20 92 22p11.2 ZNF73 P Zinc finger protein-73 (Cos12) 194547 REa
22.4 3 13 07 22q12.2 UCRC P Ubiquinol-cytochrome C reductase complex, 7.2kD subunit 610843 R, REc
22.5 10 20 99 22q13.1 RPL3 P Ribosomal protein L3 604163 REa, R
22.6 10 30 03 22q11 ACF P Asymmetric crying facies (Cayler cardiofacial syndrome) 125520 Fd Cayler cardiofacial syndrome (2)
22.7 11 27 94 22q12.1 ADRBK2, BARK2, GRK3 P Adrenergic, beta, receptor kinase-2 109636 A
22.8 6 29 99 22q11.21 ARVCF P Armadillo repeat gene deleted in VCFS 602269 A, REc ?role in VCFS
22.9 10 23 87 22q11 CECR, CES C Cat eye syndrome 115470 Ch, A, D partial tetrasomy of 22q11 Cat eye syndrome (4)
22.10 10 26 98 22q11.21 CRKL P v-crk avian sarcoma virus CT10 oncogene homolog-like 602007 A
22.11 8 24 98 22q11.21 DGCR6 P DiGeorge syndrome critical region 6 601279 REn
22.12 12 2 08 22q11.21 DGCR6L P DiGeorge syndrome critical region gene 6-like 609459 REc, REn
22.13 8 15 96 22q11.21 DVL, DVL1 P Dishevelled, Drosophila, homolog-like 601225 Ch, REc
22.14 3 1 12 22q11.21 HCF2, HC2, SERPIND1, THPH10 C Heparin cofactor II 142360 REb, REa proximal to BCR Thrombophilia due to heparin cofactor II deficiency, 612356 (3)
22.15 8 24 98 22q11.21 HIRA, TUPLE1 C Histone cell cycle regulation defective, S. cerevisiae, homolog of, A (Tup-like enhancer of split 1) 600237 A ?role in CATCH22 16(Tuple1)
22.16 4 5 05 22q13.2 NAGA C Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B) 104170 S, Ch proximal to Ph1 break Schindler disease, type I, 609241 (3); Kanzaki disease, 609242 (3); Schindler disease, type III, 609241 (3)
22.17 9 16 03 22q11.21 P2RXL1, P2XM, P2X6 P Purinergic receptor P2X-like 1 608077 A
22.18 5 31 05 22q11.21 RTN4R, NOGOR P NOGO receptor (reticulon 4 receptor) 605566 REc {Schizophrenia, susceptibility to}, 181500 (3)
22.19 3 15 11 22q11.21 SCARF2, SREC2, VDEGS P Scavenger receptor class F, member 2 613619 REc Van den Ende-Gupta syndrome, 600920 (3) 16(Scarf2)
22.20 5 6 13 22q11.21 SLC25A1, SLC20A3, CTP, D2L2AD C Solute carrier family 25 (mitochondrial citrate transporter), member 1 190315 REc, Psh, A Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
22.21 2 2 18 22q11.23 SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15, SWNTS1, CSS3 C SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 601607 Ch, REc Rhabdoid tumors, somatic, 609322 (3); {Rhabdoid tumor predisposition syndrome 1}, 609322 (3); Coffin-Siris syndrome 3, 614608 (3); {Schwannomatosis-1, susceptibility to}, 162091 (3)
22.22 6 29 99 22q11.22 TOP3B P Topoisomerase, DNA, III, beta 603582 REc
22.23 7 26 17 22q11.21 TUBA8, TUBAL2, CDCBM8 P Tubulin, alpha 8 605742 R Cortical dysplasia, complex, with other brain malformations 8, 613180 (3)
22.24 2 1 01 22q11.23 VPREB3 P Pre-B-lymphocyte gene 3 605017 A 10(Vpreb3)
22.25 11 21 03 22q12.1 HSC20, HSCB, JAC1 P HSC20, E. coli, homolog of 608142 REc
22.26 2 9 92 22q11-q12 LRE1, L1.2 C Line-1.2 retrotransposable element 151626 REa, A
22.27 9 17 09 22q13.2 XRCC6, G22P1, TLAA, Ku70 C X-ray repair, complementing defecting, in chinese hamster, 6 152690 REa, F tight linkage to CYP2D 15(Ku70)
22.28 6 7 10 22q11.1 POTEH, POTE22, ACTBL1 P POTE ankyrin domain family, member H 608913 REc, A
22.29 12 17 07 22q11.1 XKR3, XTES, XRG3 P X Kell blood group precursor-related family, member 3 611674 REc
22.30 9 24 15 22q11.21 LZTR1, SWNTS2, NS10 P Leucine-zipper-like regulator-1 600574 RE {Schwannomatosis-2, susceptibility to}, 615670 (3); Noonan syndrome 10, 616564 (3)
22.31 12 7 98 22q11.21 GGT2 P Gamma-glutamyltransferase-2 137181 REn [Gamma-glutamyltransferase, familial high serum] (2)
22.32 8 28 97 22q11.23 ADORA2A C Adenosine A2a receptor 102776 REa, REl, Psh, A incorrectly assigned to 11q
22.33 3 27 17 22q11.21 ATP6V1E1, ATP6E, ARCL2C C ATPase, H+ transporting, lysosomal, 31kD, V1 subunit E isoform 1 108746 REa, REc Cutis laxa, autosomal recessive, type IIC, 617402 (3) 6(Atp6e)
22.34 12 3 98 22q11.21 BID P BH3-interacting domain death agonist 601997 Psh, D 6(Bid)
22.35 4 14 10 22q11.23 CABIN1, CAIN P Calcineurin-binding protein 1 604251 REc
22.36 11 16 08 22q11.2 DEL22q11.2, C22DELq11.2 P Chromosome 22q11.2 deletion syndrome, distal 611867 Ch Chromosome 22q11.2 deletion syndrome, distal (4)
22.37 1 20 09 22q11.2 DUP22q11.2 P Chromosome 22q11.2 microduplication syndrome 608363 Ch contiguous gene microduplication syndrome Chromosome 22q11.2 microduplication syndrome (4)
22.38 1 20 11 22q11.2 DER22t8-22 P Supernumerary der(22)t(8;22) syndrome 613700 Ch Supernumerary der(22)t(8-22) syndrome (4)
22.39 1 20 11 22q11.2 DER22t11-22 P Emanuel syndrome (supernumerary der(22)t(11;22) syndrome) 609029 Ch Emanuel syndrome (4)
22.40 8 10 16 22q11.21 CDC45L, CDC45L2, MGORS7 C Cell division cycle 45, S. Cerevisiae, homolog-like 603465 D, A, REc Meier-Gorlin syndrome 7, 617063 (3)
22.41 8 14 14 22q11.1 CECR1, PAN, SNEDS P Cat eye syndrome chromosome region, candidate 1 607575 REc mutation identified in 1 SNEDS family Polyarteritis nodosa, childhood-onset, 615688 (3); ?Sneddon syndrome, 182410 (3)
22.42 2 26 03 22q11.1-q11.2 CECR2, KIAA1740 P Cat eye syndrome chromosome region, candidate 2 607576 REc 6(Cecr2)
22.43 2 3 99 22q11.21 CLDN5, TMVCF, AWAL P Claudin-5 (transmembrane protein deleted in velocardiofacial syndrome) 602101 REc 16(Tmvcf)
22.44 12 19 05 22q11.21 COMT C Catechol-O-methyltransferase 116790 S, D, A, REn {Schizophrenia, susceptibility to}, 181500 (3); {Panic disorder, susceptibility to}, 167870 (3) 16(Comt)
22.45 5 12 99 22q11.21 CLTCL1, CLTD P Clathrin, heavy polypeptide-like 1 601273 RE 11(Cltd)
22.46 8 3 99 22q11.23 DDT P D-dopachrome tautomerase 602750 Fd, A 10(Ddt)
22.47 2 18 98 22q11.21 DGCR2, IDD P DiGeorge critical region gene 2 (integral membrane protein deleted in DiGeorge syndrome) 600594 Ch 16(Idd)
22.48 5 2 07 22q11.21 DGCR8 P DiGeorge syndrome critical region gene 8 609030 REc, Ch 16(Dgcr8)
22.49 9 27 17 22q11.21 ESS2, DGSI, DGCR14 P Ess2 splicing factor, Xenopus, homolog of 601755 REc 16(Dgsi)
22.50 8 25 09 22q12.2 EIF4ENIF1 P Eukaryotic translation initiation factor 4E nuclear import factor 1 607445 R, REc
22.51 9 8 17 22q11.23 GGT1, GGT P Gamma-glutamyltransferase 1 612346 REc Glutathioninuria, 231950 (1)
22.52 10 9 08 22q11.23 GGT5 P Gamma-glutamyltransferase 5 137168 REc
22.53 10 9 08 22q11.22 GGTLC2, GGTL4 P Gamma-glutamyltransferase, light chain 2 612339 REc
22.54 10 9 08 22q11.21 GGTLC3 P Gamma-glutamyltransferase, light chain 3 612340 REc
22.55 9 13 92 22q11.22-q11.23 GNAZ C Guanine nucleotide-binding protein (G protein), alpha z polypeptide 139160 REa, A 10(Gnaz)
22.56 2 21 07 22q11.21 GNB1L, WDR14 P Guanine nucleotide-binding protein, beta-1-like 610778 REc 16(Gnb1l)
22.57 9 21 11 22q11.21 GP1BB, BS, BDPLT1 C Glycoprotein Ib, platelet, beta polypeptide 138720 REa, D Bernard-Soulier syndrome, type B, 231200 (3); Giant platelet disorder, isolated, 231200 (3) 16(Gp1bb)
22.58 5 4 00 22q11.2 GSTT1 P Glutathione S-transferase, theta-1 600436 A
22.59 3 27 95 22q11.23 GSTT2 P Glutathione S-transferase theta-2 600437 REa, A
22.60 5 7 03 22q11.21 HIC2, HRG22, KIAA1020 P Hypermethylated in cancer 2 607712 REc
22.61 4 15 08 22q11.2 IGLV@ C Immunoglobulin lambda light chain variable gene cluster 147240 REa, A many genes
22.62 4 15 08 22q11.2 IGLJ@ C Immunoglobulin lambda light chain joining gene cluster 147230 REa, A nine J-C duplexes
22.63 12 7 98 22q11.22 IGLC1, IGLC C Constant region of lambda light chains 147220 REa, A several genes 16(Igl1)
22.64 9 13 99 22q11.22 MAPK1, PRKM1, ERK2 C Mitogen-activated protein kinase 1 176948 REa, A, H 16(Prkm1)
22.65 1 27 11 22q11.21 MED15, PCQAP, TIG1, ARC105 P Mediator complex subunit 15 607372 Ch 16(Pcqap)
22.66 3 30 04 22q11.23 MIF C Macrophage migration inhibitory factor 153620 REa, A previously assigned to chr.19 {Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 (3) 10(Mif)
22.67 7 13 94 22q11.23 MMP11, STMY3 P Matrix metalloproteinase 11 (stromelysin 3) 185261 REa, A
22.68 9 15 11 22q12.3 MYH9, MHA, FTNS, DFNA17, BDPLT6 C Myosin, heavy polypeptide-9, nonmuscle 160775 REa, A May-Hegglin anomaly, 155100 (3); Fechtner syndrome, 153640 (3); Sebastian syndrome, 605249 (3); Deafness, autosomal dominant 17, 603622 (3); Epstein syndrome, 153650 (3); Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3)
22.69 5 24 13 22q11.23 PIWIL3 P PIWI-like 3 610314 REc
22.70 5 31 05 22q11.21 PRODH, PRODH2, SCZD4 C Proline dehydrogenase (proline oxidase) 606810 D, A Hyperprolinemia, type I, 239500 (3); {Schizophrenia, susceptibility to, 4}, 600850 (3)
22.71 2 20 01 22q11.23 RAB36 P Ras family, member 36 605662 REc
22.72 9 2 08 22q11.23 RGL4, RGR P Ral guanine nucleotide dissociation stimulator-like 4 612214 REc
22.73 3 30 16 22q11.22-q11.23 RSPH14, RTDR1 P Radial spoke head 14, Chlamydomonas, homolog of 605663 REc
22.74 2 28 03 22q11.21 SDF2L1 P Stromal cell-derived factor 2-like 1 607551 REc
22.75 11 1 05 22q11.21 SEPT5, PNUTL1, CDCREL C Septin 5 602724 REn, Ch just 5' of GP1BB
22.76 8 19 13 22q11.23 SLC2A11, GLUT11 P Solute carrier family 2 (facilitated glucose transporter), member 11 610367 REc
22.77 5 12 99 22q11.21 SLC7A4, CAT4 P Solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 603752 A, REc
22.78 4 7 05 22q11.21 SLC25A18, GC2 P Solute carrier family 25 (mitochondrial carrier, glutamate), member 18 609303 REc
22.79 9 19 05 22q11.21 SNAP29, CEDNIK P Synaptosomal-associated protein, 29kD 604202 R, REc Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
22.80 3 25 16 22q11.21 TANGO2, C22orf25, MECRCN P Transport and golgi organization 2, Drosophila, homolog of 616830 REc Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3)
22.81 4 21 97 22q11.21 UFD1L C Ubiquitin fusion degradation 1-like 601754 REc, D, A ?role in CATCH22
22.82 2 8 13 22q11.21 TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR C T-box 1 602054 REa, D, Ch Conotruncal anomaly face syndrome, 217095 (3); DiGeorge syndrome, 188400 (3); Velocardiofacial syndrome, 192430 (3); Tetralogy of Fallot, 187500 (3) 16(Tbx1)
22.83 12 22 17 22q11.21 TXNRD2, TRXR2, SELZ, GCCD5 P Thioredoxin reductase 2 606448 REc mutation identified in 1 GCCD5 family ?Glucocorticoid deficiency 5, 617825 (3) 16(Txnrd2)
22.84 12 21 09 22q11.23 UPB1, BUP1 P Beta-ureidopropionase 606673 A Beta-ureidopropionase deficiency, 613161 (3)
22.85 3 27 17 22q11.21 USP18, UBP43, ISG43, PTORCH2 P Ubiquitin-specific protease 18 607057 A Pseudo-TORCH syndrome 2, 617397 (3) 6(Usp18)
22.86 12 13 00 22q11.22 VPREB1, IGI, VPREB P Pre-B lymphocyte gene 1 605141 REa
22.87 9 16 03 22q11.21-q11.22 YPEL1 C Yippee-like 1 608082 A, REc pseudogene on 9p24.3 16(Ypel1)
22.88 8 20 92 22q11.23 ZNF70 P Zinc finger protein-70 (Cos17) 194544 REa
22.89 8 20 92 22q11.21 ZNF74 P Zinc finger protein-74 (Cos52) 194548 REa
22.90 8 6 13 22q12.1 CRYBB1, CATCN3, CTRCT17 P Crystallin, beta B1 600929 REc Cataract 17, multiple types, 611544 (3) 5(Crybb1)
22.91 5 3 13 22q11.23 CRYBB2, CRYB2, CTRCT3, CCA2 C Crystallin, beta-B2 123620 REa, A 2nd CRYB2 gene in same region Cataract 3, multiple types, 601547 (3) 5(Crybb2)
22.92 12 27 16 22q11.23 CRYBB3, CRYB3, CATCN2, CTRCT22 C Crystallin, beta-B3 123630 RE Cataract 22, 609741 (3) 5(Crybb3)
22.93 2 11 02 22q12.1 HPS4 P HPS gene 4 606682 REc Hermansky-Pudlak syndrome 4, 614073 (3) 5(le)
22.94 2 9 92 22q12.3 IL2RB C Interleukin-2 receptor, beta polypeptide 146710 REa, A, Fd, H 15(Il2rb)
22.95 10 23 87 22q12.3 MB C Myoglobin 160000 REa, Fd
22.96 7 22 13 22q12.1 CRYBA4, CTRCT23 C Crystallin, beta polypeptide A4 123631 REa, Fd Cataract 23, 610425 (3)
22.97 2 7 01 22q11.21 UBE2L3, UBCH7 P Ubiquitin-conjugating enzyme E2L 3 603721 REa, A pseudogenes on 12q12 and 19q13.1-q13.2
22.98 8 25 09 22q12.2 INPP5J, PIB5PA, PIPP P Inositol polyphosphate-5-phosphatase J 606481 R, REc
22.99 12 18 07 22q12.2 PLA2G3, SPLA2III P Phospholipase A2, group III 611651 REc
22.100 6 29 99 22q12.3 MPST P Mercaptopyruvate sulfurtransferase 602496 REc
22.101 7 8 10 22q12.2 TCN2, TC2 C Transcobalamin II 613441 F, S, D linked to P1 Transcobalamin II deficiency, 275350 (3) 11(Tcn2)
22.102 6 29 99 22q12.3 TST, RDS P Thiosulfate sulfurtransferase (Rhodanese) 180370 REc
22.103 1 11 17 22q11.21 AIFM3, AIFL P Apoptosis-inducing factor, mitochondria-associated, 3 617298 REc
22.104 8 27 15 22q11.23 BCR, CML, PHL, ALL C Breakpoint cluster region 151410 Ch, RE Ph1=t(9;22) (q34.1;q11.21); fused with ABL in CML Leukemia, chronic myeloid, somatic, 608232 (3); Leukemia, acute lymphocytic, somatic, 613065 (3) 10(Bcr)
22.105 5 24 13 22q11.21 GSC2, GSCL C Goosecoid homeobox 2 601845 REc
22.106 8 10 10 22q11.23 IGLL1, IGO, IGL5, VPREB2, AGM2 C Immunoglobulin lambda-like polypeptide 1 (immunoglobulin omega peptide) 146770 REa, Ch between BCR2 and BCR4; distal to IGLC Agammaglobulinemia 2, 613500 (3)
22.107 10 28 08 22q11.21 MICAL3, KIAA1364 P Microtubule-associated monooxygenase, calponin and LIM domains-containing 3 608882 R, REc
22.108 12 27 13 22q11.21 MIR185 P Micro RNA 185 615576 REc within first intron of C22orf25
22.109 2 5 15 22q11.21 MIR648 P Micro RNA 648 616205 REc in intron 1 of MICAL3
22.110 8 3 12 22q11.21 MRPL40, NLVCF, MRPL22 P Mitochondrial ribosomal protein L40 605089 REc 16(Nlvcf)
22.111 10 25 12 22q11.21 PEX26, PBD7A, PBD7B C Peroxisome biogenesis factor 26 608666 REc Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3); Peroxisome biogenesis disorder 7B, 614873 (3)
22.112 9 2 15 22q11.21 PI4KA, PIK4CA, PMGYCHA P Phosphatidylinositol 4-kinase, catalytic, alpha 600286 REc Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
22.113 2 28 03 22q11.21 PPIL2, CYP60 P Peptidyl-prolyl isomerase-like 2 607588 R
22.114 8 8 13 22q11.21 RANBP1, HTF9A P RAN-binding protein 1 601180 REc
22.115 4 1 09 22q11.21 RIMBP3, RIMBP3A, KIAA1666 C RIMS-binding protein 3 612699 REc, H 16(Rimbp3)
22.116 4 1 09 22q11.21 RIMBP3B P RIMS-binding protein 3B 612700 REc, H 16(Rimbp3)
22.117 4 1 09 22q11.21 RIMBP3C P RIMS-binding protein 3C 612701 REc, H 16(Rimbp3)
22.118 4 23 09 22q11.21 TRMT2A, HTF9C P tRNA methyltransferase 2, S. cerevisiae, homolog of, A 611151 REc
22.119 1 22 07 22q11.21 TSSK2, STK22B P Testis-specific serine/threonine kinase 2 610710 REc 16(Tssk2)
22.120 3 22 06 22q11.21 ZDHHC8, ZNF378, KIAA1292 P Zinc finger DHHC domain-containing protein 8 608784 R, REc
22.121 1 21 11 22q11.21 MIR130B, MIRN130B P Micro RNA 130B 613682 REc
22.122 11 21 03 22q11.21-q12.1 DFNB40 P Deafness, autosomal recessive 40 608264 Fd Deafness, autosomal recessive 40 (2)
22.123 9 9 13 22q11.22 MIR650 P Micro RNA 650 615379 REc
22.124 8 25 09 22q11.22 PRAME, MAPE, OIP4 P Preferentially expressed antigen in melanoma 606021 R, REc
22.125 12 19 16 22q11.1 IL17RA, IL17R, IMD51 P Interleukin 17 receptor A 605461 R Immunodeficiency 51, 613953 (3) 6(Il17r)
22.126 2 5 15 22q11.23 CHCHD10, FTDALS2, SMAJ, IMMD P Coiled-coil-helix-coiled-coil-helix domain-containing protein 10 615903 REc mutation identified in 1 IMMD family Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3); ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3); Spinal muscular atrophy, Jokela type, 615048 (3)
22.127 5 24 13 22q11.23 DERL3 P DER1-like domain family, member 3 610305 REc, R
22.128 9 28 17 22q11.23 SNRPD3 P Small nuclear ribonucleoprotein polypeptide D3 601062 REc
22.129 3 16 15 22q11.23 SPECC1L, KIAA0376, OBLFC1, GBBB2 P Sperm antigen with calponin homology and coiled-coil domains 1-like 614140 R, REc mutation identified in 1 OBLFC1 patient ?Facial clefting, oblique, 1, 600251 (3); Opitz GBBB syndrome, type II, 145410 (3)
22.130 7 18 14 22q11.23 SUSD2 P Sushi domain-containing protein 2 615825 REc
22.131 9 18 00 22q12.2 AP1B1, ADTB1, BAM22, CLAPB2 P Adaptor-related protein complex 1, beta 1 subunit (adaptin, beta) 600157 D
22.132 11 23 09 22q12 BRV2 P Vertigo, benign recurrent, 2 613106 Fd Vertigo, benign recurrent, 2 (2)
22.133 9 2 08 22q12.2 EWSR1, EWS C Ewing sarcoma breakpoint region-1 133450 Ch t(11;22)(q24;q12); t(21;22)(q22;q12) Ewing sarcoma, 612219 (3); Neuroepithelioma, 612219 (3)
22.134 7 11 07 22q12.2 GAS2L1, GAR22 P Growth arrest-specific 2 like 1 602128 REc
22.135 1 28 13 22q12.3 HMOX1, HMOX1D C Heme oxygenase 1 141250 Psh, A Heme oxygenase-1 deficiency, 614034 (3); {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3)
22.136 2 14 13 22q12 KAZA1 P Kala-azar (visceral leishmaniasis), susceptibility to, 1 608207 Fd {Kala-azar, susceptibility to, 1} (2)
22.137 6 16 99 22q13.1 MFNG C Manic fringe 602577 REa, R, A 15(Mfng)
22.138 6 29 99 22q12.2 MTMR3 C Myotubularin-related protein 3 603558 R, Psh, A, REc
22.139 11 5 98 22q12.2 NIPSNAP1 P 4-nitrophenylphosphatase domain and nonneuronal SNAP25-like 1 603249 REn
22.140 5 7 03 22q12.2 OSBP2, ORP4, KIAA1664 P Oxysterol-binding protein 2 606729 REc
22.141 5 19 09 22q12.2 PISD, PSD, PSSC P Phosphatidylserine decarboxylase 612770 REc
22.142 8 18 08 22q12.2 RASL10A, RRP22 P Ras-like, family 10, member A 602220 REc
22.143 7 16 09 22q12.2 SEC14L3, TAP2 C Sec14-like 3 612824 REc
22.144 7 16 09 22q12.2 SEC14L4, TAP3 P Sec14-like 4 612825 REc
22.145 5 9 07 22q12 SQTL2 P Smoking as a quantitative trait locus 2 611004 Fd max lod at D22S315 {Smoking as a quantitative trait locus 2} (2)
22.146 5 5 09 22q12.2 THOC5, FMIP P THO complex 5 612733 REc, REn
22.147 10 30 08 22q12.1 XBP1, XBP2 C X-box-binding protein-1 194355 REa pseudogene on chr.5 {Major affective disorder-7, susceptibility to}, 612371 (3)
22.148 9 28 96 22q12.3 YWHAH, YWHA1 C Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide 22 113508 REb, A
22.149 4 4 05 22q12.2 ZNF278, PATZ, MAZR P Zinc finger protein-278 605165 REc, R
22.150 5 8 03 22q13.1 CBY, C22orf2, HS508I15A P Chibby 607757 R
22.151 6 22 05 22q12-q13 CDAGS P Craniosynostosis, anal anomalies, and porokeratosis syndrome 603116 Fd CDAGS syndrome (2)
22.152 10 22 95 22q13.1 CSNK1E P Casein kinase-1, epsilon 600863 A
22.153 3 31 09 22q12.3 FBXO7, FBX7, FBX, PKPS, PARK15 C F-box only protein 7 605648 REc Parkinson disease 15, autosomal recessive, 260300 (3) 10(Fbxo7)
22.154 2 28 03 22q13.1 GCAT, KBL P Glycine C-acetyltransferase 607422 REc
22.155 3 15 10 22q12-q13 HCHGQ3 P Hematocrit/hemoglobin quantitative trait locus 3 613284 Fd associated with rs855791 [Hematocrit/hemoglobin quantitative trait locus 3] (2)
22.156 6 8 01 22q12.2 RFPL1 P RET finger protein-like 1 605968 REc
22.157 7 2 01 22q12.2 RFPL1S P Ret finger protein-like 1, antisense 605972 REc
22.158 6 8 01 22q12.3 RFPL2 P RET finger protein-like 2 605969 REc
22.159 6 8 01 22q12.3 RFPL3 P RET finger protein-like 3 605970 REc
22.160 7 2 01 22q12.3 RFPL3S P Ret finger protein-like 3, antisense 605971 REc
22.161 5 10 11 22q13.1 SUN2, UNC84B, KIAA0668 C SAD1 and UNC84 domain-containing protein 2 613569 REc, R
22.162 5 30 08 22q12.3 TMPRSS6, IRIDA C Transmembrane protease, serine 6 (matriptase 2) 609862 REn, Fd Iron-refractory iron deficiency anemia, 206200 (3)
22.163 6 19 02 22q13.1 TOMM22, TOM22 P Translocase of outer mitochondrial membrane 22, yeast, homolog of 607046 REc
22.164 1 2 03 22q13.1 GTPBP1, GP1 P GTP-binding protein 1 602245 R, REc 15(Gtpbp1)
22.165 4 25 93 22q13.1 LGALS1 C Lectin, galactose-binding, soluble, 1 150570 A 15(Lgals1)
22.166 3 15 05 22q13.31 PPARA, PPAR P Peroxisome proliferator-activated receptor-alpha 170998 REa, Fd {Hyperapobetalipoproteinemia, susceptibility to} (3)
22.167 3 18 91 22q12.3 PVALB C Parvalbumin 168890 REa, D, H ?role in DiGeorge syndrome 15(Pva)
22.168 11 2 04 22q13.1 APOBEC3F P Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3F 608993 REc, A
22.169 5 22 03 22q13.1 APOBEC3G, MDS019, CEM15, FLJ12740 P Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3G 607113 A, REc
22.170 2 1 01 22q13.1 GRAP2, GRID P GRB2-related adaptor protein 2 604518 REc
22.171 8 27 01 22q12.2 PES1, PES P Pescadillo, zebrafish, homolog of, 1 605819 REc 11(Pes1)
22.172 8 4 09 22q12.1 CHEK2, RAD53, CHK2, CDS1, LFS2 P Checkpoint kinase 2, S. pombe, homolog of (RAD53, S. cerevisiae, homolog of) 604373 REc Li-Fraumeni syndrome, 609265 (3); Osteosarcoma, somatic, 259500 (3); {Breast cancer, susceptibility to}, 114480 (3); {Prostate cancer, familial, susceptibility to}, 176807 (3); {Breast and colorectal cancer, susceptibility to} (3)
22.173 3 18 17 22q12.1 KREMEN1, KRM1, ECTD13 P Kringle domain-containing transmembrane protein 1 609898 R, REc Ectodermal dysplasia 13, hair/tooth type, 617392 (3)
22.174 11 2 11 22q12.1 MIAT, C22orf35 P MIAT gene 611082 REc {Myocardial infarction, susceptibility to}, 608446 (3)
22.175 9 21 15 22q12.1 MYO18B, KFS4 P Myosin XVIIIB 607295 REc Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
22.176 8 25 09 22q12.1 PITPNB P Phosphatidylinositol transfer protein, beta 606876 R, REc
22.177 9 30 02 22q12.1 SEZ6L P Seizure-related 6-like 607021 Ch, REc
22.178 1 27 11 22q12.1 SRRD P SRR1 domain-containing protein 602254 REc
22.179 5 11 09 22q12.1 TFIP11, TIP39, NTR1 P Tuftelin-interacting protein 11 612747 REc 5(Tfip11)
22.180 10 14 98 22q12.1 TPST2 P Tyrosylprotein phosphotransferase 2 603126 REc
22.181 3 14 13 22q12.1 TTC28, TPRBK, KIAA1043 P Tetratricopeptide repeat domain-containing protein 28 615098 REc
22.182 6 10 08 22q12.1 ZNRF3, KIAA1133 P Zinc finger and ring finger protein 3 612062 REc
22.183 11 21 02 22q12.1-q12.2 ITS P Insulinoma tumor suppressor gene locus 606960 LOH Insulinoma (1)
22.184 9 28 93 22q12.2 LIF, HILDA C Leukemia inhibitory factor (cholinergic differentiation factor) 159540 REa, A, RE distal to ES 11(Lif)
22.185 9 28 93 22q12.2 OSM C Oncostatin M 165095 REa, REn 10kb from LIF
22.186 1 12 95 22q12.3 TIMP3, SFD C Tissue inhibitor of metalloproteinase-3 188826 REa, A, Fd Sorsby fundus dystrophy, 136900 (3)
22.187 3 3 03 22q12.2 SEC14L2, TAP, KIAA1186 C Sec14-like 2 607558 R, REc
22.188 4 25 06 22q12.2 TBC1D10A, EPI64 P TBC1 domain family, member 10A 610020 REc
22.189 9 8 11 22q12.2 ASCC2, p100 P Activating signal cointegrator 1 complex, subunit 2 614216 REc
22.190 2 7 07 22q12.2 GAL3ST1, CST P Galactose-3-O-sulfotransferase 1 602300 R, REc
22.191 7 14 16 22q12.2 GATSL3, CASTOR1 P GATS protein-like 3 617034 REc
22.192 5 25 13 22q12.2 LIMK2 P LIM domain kinase 2 601988 REc
22.193 12 17 15 22q12.2 MORC2, ZCW3, ZCWCC1, KIAA0852, CMT2Z C MORC family CW-type zinc finger protein 2 616661 R, REc Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3)
22.194 5 24 13 22q12.2 MTFP1 P Mitochondrial fission process 1 610235 REc
22.195 4 27 16 22q12.2 NEFH, CMT2CC C Neurofilament, heavy polypeptide 162230 A, RE, D mutation identified in 1 family with ALS susceptibility ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3); Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3) 11(Nfh)
22.196 1 17 18 22q12.2 NF2 C Merlin 607379 RE, F, Ch, D, Fd loss of heterozygosity Neurofibromatosis, type 2, 101000 (3); Meningioma, NF2-related, somatic, 607174 (3); Schwannomatosis, somatic, 162091 (3) 11(Nf2)
22.197 8 25 09 22q12.2 SF3A1, SF3A120, SAP114, PRP21 P Splicing factor 3A, subunit 1 605595 REa, REc
22.198 5 12 09 22q12.2 SFI1, KIAA0542 P SFI1, yeast, homolog of 612765 R, REc
22.199 11 18 16 22q12.2 SELENOM, SELM, SEPM P Selenoprotein M 610918 REc
22.200 1 15 13 22q12.2 TUG1 P Taurine-upregulated gene 1, noncoding 614971 REc
22.201 9 22 16 22q12.2-q12.3 DEPDC5, KIAA0645, FFEVF1 C DEP domain-containing protein 5 614191 Psh, REc, Fd Epilepsy, familial focal, with variable foci 1, 604364 (3)
22.202 12 5 11 22q12.3 CSF2RB, SMDP5 P Colony-stimulating factor-2 receptor, beta, low-affinity 138981 Psh, A Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
22.203 6 29 99 22q13.1 GALR3 P Galanin receptor 3 603692 REc, A
22.204 4 27 00 22q13.1 MAFF P v-MAF avian musculoaponeurotic fibrosarcoma oncogene family, protein F 604877 REc
22.205 10 25 10 22q12.3 APOL1, FSGS4 C Apolipoprotein L1 603743 R, REc {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3); {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
22.206 12 11 02 22q12.3 APOL2 C Apolipoprotein L2 607252 R, REc {Schizophrenia}, 181500 (1)
22.207 12 11 02 22q12.3 APOL3 C Apolipoprotein L3 607253 R, REc
22.208 12 11 02 22q12.3 APOL4 C Apolipoprotein L4 607254 R, REc {Schizophrenia}, 181500 (1)
22.209 12 11 02 22q12.3 APOL5 C Apolipoprotein L5 607255 R, REc
22.210 12 11 02 22q12.3 APOL6 C Apolipoprotein L6 607256 R, REc
22.211 12 10 12 22q12.3 C1QTNF6, CTFP6 P C1q- and tumor necrosis factor-related protein 6 614910 REc
22.212 3 24 11 22q12.3 FOXRED2, ERFAD P FAD-dependent oxidoreductase domain-containing protein 2 613777 REc
22.213 2 29 08 22q12.3 HPC6 P Prostate cancer, hereditary, 6 609558 Fd between D22S1265 and D22S277 {Prostate cancer, susceptibility to}, 176807 (2)
22.214 7 17 14 22q12.3 IFT27, RABL4, BBS19 P Intraflagellar transport 27, Chlamydomonas, homolog of 615870 REc mutation identified in 1 BBS19 family ?Bardet-Biedl syndrome 19, 615996 (3)
22.215 6 2 08 22q12.3 ISX, RAXLX P Intestine-specific homeobox 612019 REc
22.216 6 1 16 22q12.3 KCTD17 P Potassium channel tetramerization domain-containing protein 17 616386 REc Dystonia 26, myoclonic, 616398 (3)
22.217 6 10 09 22q12.3 RASD2, RHES, TEM2 P RASD family, member 2 612842 REc
22.218 7 17 14 22q12.3 RTCB, C22orf28, HSPC117 P RNA 2-prime, 3-prime cyclic phosphate and 5-prime-OH ligase 613901 REc
22.219 5 28 99 22q12.2 SMTN P Smoothelin 602127 A, R 11(Smtn)
22.220 8 20 98 22q12.3 SYN3 P Synapsin III 602705 REn ?relation to schizophrenia
22.221 2 12 16 22q12.3 TXN2, TRX2, MTRX, COXPD29 P Thioredoxin 2 609063 REc mutation identified in 1 COXPD29 patient ?Combined oxidative phosphorylation deficiency 29, 616811 (3)
22.222 9 30 09 22q13.1 CYTH4, PSCD4, CYT4 P Cytohesin 4 606514 REc
22.223 11 10 10 22q12.3 LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6 C Acetylglucosaminyltransferase-like protein 603590 D, REc Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3) 8(Large)
22.224 1 20 11 22q12.3-q13.1 MDNS P Mammary-digital-nail syndrome 613689 Fd max lod at D22S277, D22S1142, D22S683, D22S283 Mammary-digital-nail syndrome (2)
22.225 11 11 13 22q13.1 PDGFB, SIS, IBGC5 C Platelet-derived growth factor, beta polypeptide (oncogene SIS) 190040 REa, Fd fused with COL1A1 in DFSP Meningioma, SIS-related, 607174 (3); Dermatofibrosarcoma protuberans, 607907 (3); Basal ganglia calcification, idiopathic, 5, 615483 (3) 15(Pdgfb)
22.226 3 22 06 22q13.1 PICK1, PRKCABP P Protein interacting with C kinase 1 605926 REc
22.227 10 27 03 22q13.1 RAC2 C Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2) 602049 A Neutrophil immunodeficiency syndrome, 608203 (3)
22.228 2 25 15 22q13.1 SLC16A8, MCT3 P Solute carrier family 16 (monocarboxylic acid transporter), member 8 610409 REc, R
22.229 3 16 99 22q12.1 MN1, MGCR P Meningioma chromosome region 156100 Fd, Ch fused with TEL in AML Meningioma, 607174 (3)
22.230 8 23 02 22q13.1 APOBEC3A, PHRBN P Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (phorbolin 1) 607109 A, REc
22.231 8 23 02 22q13.1 APOBEC3B, PHRBNL P Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 607110 A, REc
22.232 5 22 03 22q13.1 APOBEC3C P Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3C 607750 REn, A
22.233 8 30 07 22q13.31 ATXN10, SCA10 C Ataxin 10 611150 Fd ATTCTn repeat in intron 9 Spinocerebellar ataxia 10, 603516 (3)
22.234 6 1 12 22q12.3 BPIFC, BPIL2 P BPI fold-containing protein, family C 614109 Psh, R, REc
22.235 2 22 00 22q13.33 BRL P BR140-like gene 604589 A
22.236 5 24 13 22q13.31 CERK, KIAA1646 P Ceramide kinase 610307 REc
22.237 7 22 11 22q13.33 CHKB, CHKL, CKEKB, EKB, MDCMC P Choline kinase, beta 612395 REc Muscular dystrophy, congenital, megaconial type, 602541 (3)
22.238 10 13 09 22q13.33 CPT1B P Carnitine palmitoyltransferase I, muscle 601987 A, REn
22.239 11 20 13 22q13 DUP22q13, C22DUPq13 P Chromosome 22q13 duplication syndrome 615538 Ch Chromosome 22q13 duplication syndrome, 615538 (4)
22.240 2 19 13 22q13.2 EP300, RSTS2 P E1A-binding protein, 300kD 602700 A Rubinstein-Taybi syndrome 2, 613684 (3); Colorectal cancer, somatic, 114500 (3)
22.241 5 26 13 22q13.33 IL17REL P Interleukin 17 receptor E-like 613414 REc
22.242 5 22 03 22q13.33 MAPK8IP2, JIP2, IB2 P Mitogen-activated protein kinase 8-interacting protein 2 607755 REc
22.243 3 26 07 22q13 MENAQ1 P Menarche, age at, QTL 1 610873 Fd max lod at UT7136 {Menarche, age at, QTL} (2)
22.244 3 23 09 22q13.31 MIRLET7B, LET7B, MIRNLET7B P Micro RNA Let7B 611249 R, REn
22.245 6 28 01 22q13.1-q13.2 MKL1, AMKL, MAL P Megakaryoblastic leukemia 1 gene 606078 Ch fusion with RBM15 Megakaryoblastic leukemia, acute (3)
22.246 6 7 10 22q13 NAFLD1 P Fatty liver disease, nonalcoholic, susceptibility to, 1 613282 Fd associated with rs738409 {Fatty liver disease, nonalcoholic, susceptibility to, 1} (2)
22.247 12 4 08 22q13 NRCLP4 P Narcolepsy 4 612417 Fd associated with rs5770917 {Narcolepsy 4} (2)
22.248 11 2 14 22q13.33 PANX2, PX2 P Pannexin 2 608421 REc
22.249 3 9 10 22q13.31 PNPLA3, ADPN P Patatin-like phospholipase domain-containing protein 3 609567 REc
22.250 8 21 07 22q13.1 RNU86 P RNA, U86 small nucleolar 611069 REc
22.251 8 26 15 22q13.33 SCO2, CEMCOX1, MYP6 C SCO2 cytochrome c oxidase assembly protein 604272 REc, Fd Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3); Myopia 6, 608908 (3)
22.252 1 22 08 22q13.2 SCUBE1 P Signal peptide-, CUB domain-, and EGF-like domains-containing protein 1 611746 REc, H 15(Scube1)
22.253 3 26 02 22q13.2 SLC25A17, PMP34 P Solute carrier family 25 (mitochondrial carrier), member 17 (peroxisomal membrane protein, 34kD) 606795 REc
22.254 8 21 07 22q13.1 SNORD43, RNU43 P Small nucleolar RNA, C/D box, 43 611068 REc
22.255 8 21 07 22q13.1 SNORD83A, RNU83A P Small nucleolar RNA, C/D box, 83A 611070 REc
22.256 8 21 07 22q13.1 SNORD83B, RNU83B P Small nucleolar RNA, C/D box, 83B 611071 REc
22.257 3 16 10 22q13.1 SOX10, WS4, WS4C, PCWH C SRY (sex-determining region Y)-box-10 602229 REn megacolon and spotting in mice Waardenburg syndrome, type 4C, 613266 (3); Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3); PCWH syndrome, 609136 (3) 15(Sox10, Dom)
22.258 1 10 96 22q13.2 SREBF2 P Sterol regulatory element binding transcription factor 2 600481 REa, A
22.259 3 3 03 22q13.2 ST13, P48, HOP P Suppression of tumorigenicity 13 606796 A
22.260 2 7 01 22q13.1 SYNGR1 P Synaptogyrin 1 603925 REc
22.261 11 17 94 22q13.2 TEF P Thyrotroph embryonic factor 188595 A 15(Tef)
22.262 10 28 11 22q13.31 TRMU, MTO2 P tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 610230 REc {Deafness, mitochondrial, modifier of}, 580000 (3); Liver failure, transient infantile, 613070 (3) 15(Trmu)
22.263 6 9 98 22q13.31 WNT7B P Wingless-type MMTV integration site family, member-7B 601967 A
22.264 11 8 03 22q13.1 ADSL C Adenylosuccinate lyase 608222 S, REa, A ade(-)I; bifunctional Adenylosuccinase deficiency, 103050 (3) 15(Adsl)
22.265 4 29 10 22q13.1 ANKRD54, LIAR P Ankyrin repeat domain-containing protein 54 613383 REc, H 15(Ankrd54)
22.266 5 22 07 22q13.1 APOBEC3H, ARP10 C Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H 610976 REc, REn
22.267 2 10 09 22q13.1 ATF4, CREB2, TAXREB67 P Activating transcription factor 4 604064 R, REc
22.268 6 20 17 22q13.1 BAIAP2L2, PINKBAR P Bai1-associated protein 2-like 2 617536 REc
22.269 3 22 07 22q13.1 CACNA1I, KIAA1120 C Calcium channel, voltage-dependent, T type, alpha-1I subunit 608230 REc
22.270 3 8 17 22q12.3 CACNG2, MRD10 C Calcium channel, voltage-dependent, gamma-2 subunit (stargazin) 602911 REc mutation identified one MRD10 patient ?Mental retardation, autosomal dominant 10, 614256 (3) 15(Cacng2)
22.271 8 25 09 22q13.1 CARD10, CARMA3, BIMP1 P Caspase recruitment domain-containing protein 10 607209 R, REc
22.272 4 20 17 22q13.1 CBX6 P Chromobox homolog 6 617438 REc
22.273 2 16 04 22q13.1 CBX7 P Chromobox homolog 7 608457 R, REc
22.274 8 25 09 22q13.1 CDC42EP1, MSE55, BORG5, CEP1 P CDC42 effector protein 1 606084 R, REc
22.275 1 20 09 22q13.2 CYP2D6, CPD6, P450DB1 C Cytochrome P450, subfamily IID, polypeptide 6 124030 F, Fd, Psh, A {Debrisoquine sensitivity}, 608902 (3); {Codeine sensitivity}, 608902 (3) 15(Cyp2d)
22.276 11 11 14 22q13.1 DMC1, LIM15 P Disrupted meiotic cDNA 1, yeast, homolog of 602721 REc
22.277 11 3 14 22q13.1 DNAL4, MRMV3 P Dynein, axonemal, light chain 4 610565 REc mutation identified in 1 MRMV3 family ?Mirror movements 3, 616059 (3) 15(Dnal4)
22.278 2 19 04 22q13.1 DDX17, RH70, P72 P DEAD/H box-17 608469 R, REc
22.279 10 3 07 22q12.3 EIF3D, EIF3S7 P Eukaryotic translation initiation factor 3, subunit D 603915 REc
22.280 8 25 98 22q13.1 H1F0, H1FV P H1 histone family, member 0 142708 Psh, A
22.281 5 18 95 22q13.1 KCNJ4, HIR P Potassium inwardly-rectifying channel, subfamily J, member 4 600504 Psh, A
22.282 2 21 03 22q12.3 HMGXB4, HMG2L1 P HMG box domain-containing 4 604702 REc
22.283 7 23 13 22q13.1 JOSD1, KIAA0063 P Josephin domain-containing protein 1 615323 REc, Psh
22.284 4 18 05 22q13.1 LGALS2 P Lectin, galactoside-binding, soluble, 2 150571 A, REc {Myocardial infarction, susceptibility to}, 608446 (3)
22.285 7 11 17 22q12.3 MCM5, CDC46, MGORS8 P Minichromosome maintenance, S. cerevisiae, homolog of, 5 602696 A mutation identified in 1 MGORS8 patient ?Meier-Gorlin syndrome 8, 617564 (3)
22.286 12 10 13 22q13.1 MEIF1, SMCR7L, MID51 P Mitochondrial elongation factor 1 615497 REc
22.287 3 9 00 22q13.1 MGAT3, GNT3 P Beta-1,4-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 604621 A
22.288 8 27 15 22q13.1 MIR659 P Micro RNA 659 613556 REc
22.289 5 27 16 22q12.3 NCF4, P40PHOX, CGD3 P Neutrophil cytosolic factor-4 601488 Psh, A mutation identified in 1 CGD3 patient ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
22.290 12 3 98 22q13.2 NDUFA6 C NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 602138 R previously assigned to 21q22
22.291 3 9 10 22q13.1 PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14 C Phospholipase A2, group VI 603604 REc, Fd Infantile neuroaxonal dystrophy 1, 256600 (3); Neurodegeneration with brain iron accumulation 2B, 610217 (3); Parkinson disease 14, autosomal recessive, 612953 (3)
22.292 5 19 97 22q13.2 PMM1 P Phosphomannomutase 1 601786 REa, A
22.293 2 7 01 22q13.1 POLR2F P Polymerase II, RNA, subunit F 604414 REc
22.294 7 18 16 22q12.3 RBFOX2, RBM9, FOX2, RTA C RNA binding protein, fox-1 homolog 2 612149 R, REc
22.295 6 30 06 22q13.1 RPS19BP1, S19BP, MGC52010 P Ribosomal protein S19 binding protein 1 610225 REc, H 15(Rps19bp1)
22.296 5 24 13 22q13.1 SGSM3, RUTBC3, MAP, RUSC3 P Small G protein signaling modulator 3 610440 R, REc
22.297 2 24 17 22q13.1 SH3BP1, ARHGAP43, BGIN P SH3 domain-binding protein 1 617368 REc
22.298 4 16 02 22q12.3 SLC5A1, SGLT1 C Solute carrier family 5 (sodium/glucose transporter), member 1 182380 REa Glucose/galactose malabsorption, 606824 (3)
22.299 4 25 93 22q13.1 SSTR3 C Somatostatin receptor-3 182453 REa 15(Sstr3)
22.300 1 11 16 22q13.1 TAB1, MAP3K7IP1 P Tak1 (MAP3K7) binding protein 1 602615 R, REc
22.301 1 31 07 22q13.1 TNRC6B, KIAA1093 P Trinucleotide repeat-containing gene 6B 610740 R, REc
22.302 11 19 13 22q12.3 TOM1 P Target of MYB1, chicken, homolog of 604700 REn 8(Tom1)
22.303 1 11 06 22q13.1 TRIOBP, KIAA1662 P Trio- and F-actin-binding protein 609761 REc, Fd Deafness, autosomal recessive 28, 609823 (3)
22.304 3 15 07 22q13.2 TTLL1, KIAA0173 P tubulin tyrosine ligase-like protein 1 608955 REc
22.305 12 15 10 22q13.2 TNFRSF13C, BAFFR, CVID4 P Tumor necrosis factor receptor superfamily, member 13C 606269 REc Immunodeficiency, common variable, 4, 613494 (3) 15(Baffr)
22.306 12 4 02 22q13.2 TOB2, KIAA1663 P Transducer of erbb2, 2 607396 A
22.307 2 8 13 22q13.2 A4GALT, P1PK P Alpha 1,4-galactosyltransferase 607922 REc [Blood group, P1Pk system, p phenotype], 111400 (3); [Blood group, P1Pk system, P(2) phenotype], 111400 (3); NOR polyagglutination syndrome, 111400 (3)
22.308 11 10 15 22q13.2 ACO2, ICRD, OPA9 C Aconitase, mitochondrial 100850 S, Ch, REc distal to Ph1 break; mutation identified in 1 OPA9 family Infantile cerebellar-retinal degeneration, 614559 (3); ?Optic atrophy 9, 616289 (3)
22.309 12 4 08 22q13.2 ARFGAP3 P ADP-ribosylation factor GTPase-activating protein 3 612439 R, REc
22.310 2 25 15 22q13.2 CHADL P Chondroadherin-like 616236 REc
22.311 9 22 17 22q13.2 CSDC2, PIPPIN P Cold-shock domain-containing protein C2 617689 REc
22.312 7 20 12 22q13.2 DESI1, PPPDE2 P Desumoylating isopeptidase 1 614637 REc
22.313 3 23 14 22q13.2 DNAJB7, DJ5, HSC3 P DNAJ/HSP40 homolog, subfamily B, member 7 611336 REc
22.314 9 30 11 22q13.2 FAM109B, SES2, IPIP27B P Family with sequence similarity 109, member B 614240 REc
22.315 3 23 09 22q13.2 MIR33A, MIRN33A P Micro RNA 33A 612156 REc
22.316 1 29 07 22q13.2 NFAM1, CNAIP P NFAT activating protein with ITAM motif 1 608740 REc
22.317 2 1 11 22q13.2 NHP2L1 P Non-histone chromosome protein 2, S. cerevisiae, like 1 601304 REc previously assigned to 12q24.3 by FISH
22.318 12 10 13 22q13.2 PACSIN2 P Protein kinase C and casein kinase substrate in neurons 2 604960 REc
22.319 1 24 18 22q13.2 PHF5A, SF3B7, SF3B14B P PHD finger protein 5A 617846 REc, H 15(Phf5a)
22.320 10 13 09 22q13.2 POLDIP3, SKAR, PDIP46 P Polymerase delta-interacting protein 3 611520 R, REc
22.321 9 27 17 22q13.2 RANGAP1 P GTPase-activating protein, RAN, 1 602362 REc
22.322 3 30 12 22q13.2 RBX1, ROC1 P RING-box 1 603814 REc
22.323 12 7 03 22q13.2 SEPT3, SEP3 C Septin 3 608314 REc
22.324 9 9 13 22q13.2 SERHL P Serine hydrolase-like 607979 REc
22.325 2 2 17 22q13.2 SHISA8 P Shisa family, member 8 617329 REc
22.326 1 7 14 22q13.2 SMDT1, EMRE, C22orf32 P Single-pass membrane protein with aspartate-rich tail 1 615588 REc
22.327 5 22 07 22q13.2 WBP2NL, PAWP P WWBP2 N-terminal-like protein 610981 REc
22.328 3 9 04 22q13.2 BIK, NBK P Bcl2-interacting killer 603392 A
22.329 3 10 00 22q13.31 CELSR1 P Cadherin EGF LAG seven-pass G-type receptor 1 604523 A 15(Celsr1)
22.330 7 15 14 22q13.31 FBLN1 C Fibulin 1 135820 A Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4) 15(Fbln1)
22.331 2 28 08 22q13.2 L3MBTL2, L3MBT P L3MBT-like 2 611865 REc 15(L3mbtl2)
22.332 6 29 99 22q13.33 MAPK12, SAPK3, ERK3 P Mitogen-activated protein kinase 12 (Stress-activated protein kinase-3) 602399 A
22.333 6 7 10 22q13.2 MCHR1, GPR24, SLC1 C Melanin-concentrating hormone receptor 1 601751 A, R
22.334 1 9 01 22q13.31 NUP50, NPAP60L, NPAP60 C Nucleoporin, 50 kD 604646 H, REc 15(Npap60)
22.335 5 4 00 22q13.31 PKDREJ P Polycystic kidney disease and sea urchin REJ homolog-like 604670 R
22.336 11 27 00 22q13.33 RABL2B C RAB-like 2B 605413 REc
22.337 3 28 12 22q13.33 SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3, SCZD15 C SH3 and multiple ankyrin repeat domains 3 606230 A Phelan-McDermid syndrome, 606232 (3); {Schizophrenia 15}, 613950 (3)
22.338 11 4 98 22q13.2 TCF20, SPBP, AR1 P Transcription factor 20 603107 A, Psh
22.339 6 30 05 22q13.31 ARHGAP8, BPGAP1 C GTPase-activating protein, RHO, 8 609405 REc, H 15(Arhgap8)
22.340 8 25 09 22q13.1 GGA1 P Golgi associated, gamma adaptin ear containing, ARF binding protein 1 606004 R, REc
22.341 1 20 11 22q13.31 GRAMD4, KIAA0767, DIP P Gram domain-containing protein 4 613691 REc
22.342 2 24 12 22q13.2 MCAT P Malonyl CoA:ACP acyltransferase, mitochondrial 614479 REc
22.343 3 23 09 22q13.31 MIRLET7A3, LET7A3, MIRNLET7A3 P Micro RNA let7a3 612143 REc
22.344 3 16 10 22q13.2 MPPED1, C22orf1, 239AB P Metallophosphoesterase domain-containing protein 1 602112 REc
22.345 12 29 06 22q13.2 PANE1, C22orf18 P Proliferation-associated nuclear element 1 610152 REc
22.346 10 29 09 22q13.31 PARVB P Parvin, beta 608121 REc
22.347 10 29 09 22q13.31 PARVG P Parvin, gamma 608122 REc
22.348 1 4 16 22q13.31 PHF21B, PHF4, BHC80L P PHD finger protein 21B 616727 REc
22.349 2 23 08 22q13.31 PNPLA5, GS2L P Patatin-like phospholipase domain-containing 5 611589 R, REc
22.350 6 30 05 22q13.31 PRR5, PP610 C Proline-rich protein 5 609406 REc, H 15(Prr5)
22.351 6 10 08 22q13.31 SAMM50, SAM50 P Sorting and assembly machinery component 50, S. cerevisiae, homolog of 612058 R, REc
22.352 10 11 16 22q13.31 SULT4A1, BRSTL1 P Sulfotransferase family 4A, member 1 608359 R, REc
22.353 3 29 16 22q13.31 TBC1D22A, C22orf4 P TBC1 domain family, member 22A 616879 REc
22.354 7 9 10 22q13.2 TSPO, BZRP, PBR, PBS, BPBS C Translocator protein, 18kD (benzodiazepine receptor, peripheral type) 109610 A 15(Bzrp)
22.355 4 14 12 22q13.31 UPK3A, UPK3, UPIII C Uroplakin 3A 611559 REc
22.356 11 22 99 22q13.33 PLXNB2, MM1 P Plexin B2 604293 REc, R
22.357 9 8 10 22q13.2 XPNPEP3, APP3, NPHPL1 C X-prolyl aminopeptidase 3 613553 REc Nephronophthisis-like nephropathy 1, 613159 (3)
22.358 2 27 03 22q13.33 ARSA C Arylsulfatase A 607574 S, D Metachromatic leukodystrophy, 250100 (3) 15(As2)
22.359 2 21 10 22q13.2 CYB5R3, DIA1, B5R C Cytochrome b5 reductase 3 613213 S, REa Methemoglobinemia, type I, 250800 (3); Methemoglobinemia, type II, 250800 (3) 15(Dia1)
22.360 5 30 17 22q13.32 FAM19A5, TAFA5 P Family with sequence similarity 19, member A5, CC motif chemokine-like 617499 REc
22.361 12 21 10 22q13.33 TYMP, ECGF1, MNGIE, PDECGF, MEDPS1, MTDPS1 C Thymidine phosphorylase 131222 REa, A, Fd Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
22.362 4 20 11 22q13.33 ACR C Acrosin 102480 REa, Ch, REc ?Male infertility due to acrosin deficiency (2) 15(Acr)
22.363 2 19 07 22q13.33 ALG12, CDG1G C Dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6- mannosyltransferase 607144 R, Ch Congenital disorder of glycosylation, type Ig, 607143 (3)
22.364 2 19 07 22q13.33 MLC1, LVM, VL C MLC1 gene 605908 Fd, REc, Ch Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
22.365 5 24 13 22q13.33 NCAPH2, CAPH2 P Non-SMC condensin II complex subunit H2 611230 REc, R 15(Ncaph2)
22.366 8 25 09 22q13.33 MOV10L1 P Mov10-like 1 605794 R, REc
22.367 5 26 13 22q13.33 PIM3 P Oncogene PIM3 610580 REc, R
22.368 3 29 07 22q13.33 SAPS2, PP6R2, KIAA0685 P SAPS domain family, member 2 610877 R, REc
22.369 7 1 13 22q13.33 SBF1, MTMR5, CMT4B3 P SET-binding factor 1 (myotubularin-related protein 5) 603560 RE, R, REc Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
22.370 11 17 16 22q13.33 SELENOO, SELO P Selenoprotein O 607917 REc
22.371 6 22 14 22q13.33 SYCE3 P Synaptonemal complex central element protein 3 615775 REc
22.372 1 12 15 22q13.33 TUBGCP6, GCP6, KIAA1669, MCCRP1 P Tubulin-gamma complex-associated protein 6 610053 REc Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
22.373 1 24 09 22q13.33 ZBED4, KIAA0637 P Zinc finger BED domain-containing protein 4 612552 R, REc
22.374 6 16 89 Chr.22 MSK41 P Antigen MSK41 identified by monoclonal antibody E3 107260 S
23.1 7 9 90 Xpter-p22.32 ARSC2 L Arylsulfatase C, f form 301780 D probably close to STS = ARSC1, or s form
23.2 4 25 93 Xp22.33 ASMT, HIOMT P Acetylserotonin methyltransferase 300015 REa, Fd pseudoautosomal
23.3 12 3 98 Xp22.33 ASMTLX, ASTML P Acetylserotonin methyltransferase-like 300162 REc
23.4 2 14 03 Xp22.33 CD99, MIC2, MIC2X C CD99 antigen (MIC2 (monoclonal antibody 12E7)) 313470 S, A, D distal to STS
23.5 4 30 98 Xp22.33 SHOX, GCFX, SS, PHOG C Short stature homeo box 312865 Fd, D, REc pseudoautosomal; ?gene causing short stature in Turner syndrome Short stature, idiopathic familial, 300582 (3); Leri-Weill dyschondrosteosis, 127300 (3); Langer mesomelic dysplasia, 249700 (3)
23.6 12 31 99 Xpter-p22.32 HDPA P Hodgkin disease, susceptibility, pseudoautosomal 300221 Fd {Hodgkin disease susceptibility, pseudoautosomal} (2)
23.7 10 23 87 Xpter-p22.32 XG C Xg blood group 314700 F, D nonlyonizing; spans pseudoautosomal boundary; XGPY on Yq11.21 [Blood group, XG system] (3)
23.8 8 30 11 Xp22.33 GTPBP6, PGPL P GTP-binding protein 6 300124 Psh, A, REc
23.9 4 6 15 Xp22.33 MXRA5 P Matrix remodeling-associated protein 5 300938 REc
23.10 1 21 11 Xp22.32-p22.31 NLGN4, KIAA1260, AUTSX2, ASPGX2 P Neuroligin 4 300427 R {Autism susceptibility, X-linked 2}, 300495 (3); {Asperger syndrome susceptibility, X-linked 2}, 300497 (3); Mental retardation, X-linked, 300495 (3)
23.11 7 1 16 Xp22.33 PLCXD1 P Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 1 300974 REc in pseudoautosomal region
23.12 5 28 13 Xp22.33 PPP2R3B, PR48 P Protein phosphatase 2, regulatory subunit B-double prime, beta 300339 REc
23.13 10 23 00 Xp22.33 VSPA P Visuospatial/perceptual abilities 313000 D Turner syndrome-associated neurocognitive phenotype (2); [Visuospatial/perceptual abilities] (2)
23.14 1 6 09 Xp22.33 ZBED1, ALTE, KIAA0785, TRAMP P Zinc finger BED domain-containing protein 1 300178 REc
23.15 9 14 12 Xp22.33 XG, PBDX P XG glycoprotein 300879 REc
23.16 2 16 04 Xp22.31 FAM9A P Family with sequence similarity 9, member A 300477 REc pseudogene on Xq28, Yp11.31, 1p36.12, 8p11.1
23.17 12 19 11 Xp22.33 AKAP17A, SFRS17A, DXYS155E, XE7 P A kinase (PRKA) anchor protein 17A 312095 REn nonlyonizing
23.18 12 5 11 Xp22.33 CSF2RA, SMDP4 C Colony-stimulating factor-2 receptor, alpha, low-affinity, granulocyte-macrophage 306250 A order in PAR: pter-CSF2RA-IL3RA-ANT3-ASMT-MIC2-cen Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3) 19(Csf2ra)
23.19 2 16 04 Xp22.31 FAM9B P Family with sequence similarity 9, member B 300478 REc
23.20 11 7 08 Xp22.31 HDHD1A, DXF68S1E, GS1 P Haloacid dehalogenase-like hydrolase domain-containing 1A 306480 REn escapes X-inactivation; 100kb telomeric to STS
23.21 3 6 00 Xp22.33 SLC25A6, ANT3 C Solute carrier family 25 (mitochondrial carrier), member 6 (adenine nucleotide translocator-3, liver) 300151 Pcm, REc, REn 1st intron ~1.3Mb from Xqter; nonlyonized
23.22 4 30 09 Xp22.31 STS, ARSC1, ARSC, SSDD, XLI C Steroid sulfatase, microsomal (arylsulfatase C, isozyme S) 300747 F, S, D nonlyonizing Ichthyosis, X-linked, 308100 (3) X,Y(Sts)
23.23 10 12 90 Xp22.32 XGR P XG/MIC2 regulator 314705 F ?between XG and MIC2
23.24 11 30 06 Xp22.2 ASB11 P Ankyrin repeat- and SOCS box-containing protein 11 300626 REc
23.25 7 9 09 Xp22.2 FAAP95, FAAP90, FLJ34064, FANCB C Fanconi anemia-associated polypeptide, 95kD 300515 REn Fanconi anemia, complementation group B, 300514 (3)
23.26 2 16 04 Xp22.2 FAM9C P Family with sequence similarity 9, member C 300479 REc
23.27 11 23 98 Xp22.2 FIGF, VEGFD P c-fos induced growth factor (vascular endothelial growth factor D) 300091 Psh
23.28 8 30 16 Xp22.31 VCS3B, VCXC C Variably charged, X chromosome, 3B 300981 REc
23.29 2 18 98 Xp22.2 ARHGAP6 P Rho GTPase-activating protein-6 300118 REc
23.30 3 28 03 Xp22.33 ARSE, CDPX1, CDPXR C Arylsulfatase E 300180 D, Fd CDPX1 in contiguous gene syndrome with STS Chondrodysplasia punctata, X-linked recessive, 302950 (3)
23.31 2 14 97 Xp22.33 ARSD P Arylsulfatase D 300002 REn
23.32 2 14 97 Xp22.33 ARSF C Arylsulfatase F 300003 REn, REc
23.33 5 19 06 Xp22.33 ARSH P Arylsulfatase H 300586 REc
23.34 8 10 16 Xp22.2 CLCN4, MRX49, MRX15 P Chloride channel-4 302910 RE Mental retardation, X-linked 49/15, 300114 (3)
23.35 8 30 01 Xp22.33 CRLF2, CRL2 P Cytokine receptor-like factor 2 300357 A pseudoautosomal
23.36 10 23 97 Xp22.31 DXS1283E P GS2 gene 300102 REn
23.37 10 19 99 Xp22.3 EMWX P Episodic muscle weakness, X-linked 300211 Fd Episodic muscle weakness, X-linked (2)
23.38 6 7 10 Xp22.2 GPR143, OA1, NYS6 C G protein-coupled receptor 143 300808 F, Fd linked to XG Ocular albinism, type I, Nettleship-Falls type, 300500 (3); Nystagmus 6, congenital, X-linked, 300814 (3) X(Oa1)
23.39 2 7 01 Xp22.33 GYG2, GN2 P Glycogenin 2 300198 A
23.40 10 4 93 Xp22.33 IL3RA C Interleukin-3 receptor, alpha subunit 308385 REa, A, REn same 190kb segment as CSF2RA 14(Il3ra)
23.41 9 28 12 Xp22.31 KAL1, KMS, ADMLX, HH1 C Kallmann syndrome-1 sequence (anosmin-1) 300836 F, Fd, D, REa, REn with ichthyosis in probable microdeletion syndrome Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3)
23.42 9 10 09 Xp22.3 LECD P Corneal dystrophy, Lisch epithelial 300778 Fd max lod between DXYS233 and DXYS228X Corneal dystrophy, Lisch epithelial (2)
23.43 7 18 06 Xp22.2 MSL3L1 P Male-specific lethal 3-like 1 300609 REc
23.44 3 26 03 Xp22.3 MRX2 P Mental retardation, X-linked, 2 300428 Fd Mental retardation, X-linked 2 (2)
23.45 12 16 93 Xp22.3 OASD P Ocular albinism and sensorineural deafness 300650 Fd ?allelic to OA1 Ocular albinism with sensorineural deafness (2)
23.46 7 28 11 Xp22.33 P2RY8, P2Y8 P Pyrimidinergic receptor P2Y, G protein-coupled, 8 300525 REc
23.47 8 5 97 Xp22.33 PRKX P Protein kinase, X-linked 300083 REc
23.48 4 18 07 Xp22.2 SHROOM2, APXL P Shroom family member 2 300103 REn X(Apxl)
23.49 5 24 02 Xp22.3-p22.2 TBL1X, TBL1 P Transducin-beta-like 1, X-linked 300196 A X(Tbl1)
23.50 4 14 05 Xp22.31 VCX, VCXB1, VCX10R C Variably charged, X chromosome 300229 REc
23.51 4 14 05 Xp22.31 VCX2, VCX2R, VCXB P Variably charged, X chromosome, 2 300532 R
23.52 4 14 05 Xp22.31 VCX3A, VCX8R, VCXA P Variably charged, X chromosome, 3A 300533 R
23.53 11 5 14 Xp22.2 OFD1, CXorf5, SGBS2, JBTS10, RP23 C OFD1 protein 300170 Fd, REc mutation identified in 1 RP23 family Orofaciodigital syndrome I, 311200 (3); Simpson-Golabi-Behmel syndrome, type 2, 300209 (3); Joubert syndrome 10, 300804 (3); ?Retinitis pigmentosa 23, 300424 (3)
23.54 12 4 90 Xp22.2 PRPS2 C Phosphoribosyl pyrophosphate synthetase-2 311860 REa, A between STS and ZFX
23.55 6 24 10 Xp22.2 TLR7 P Toll-like receptor 7 300365 REc centromeric to TLR8
23.56 6 24 10 Xp22.2 TLR8 P Toll-like receptor 8 300366 REc 16kb telomeric to TLR7
23.57 7 11 14 Xp22.2 AMELX, AMG, AIH1, AMGX, AI1E C Amelogenin 300391 REa, A, Fd also Y Amelogenesis imperfecta, type 1E, 301200 (3) X(Amel)
23.58 9 28 93 Xp22.2 GRPR C Gastrin-releasing peptide receptor 305670 Psh
23.59 7 22 16 Xp22.1-p21.3 POLA1 C Polymerase, DNA, alpha-1 312040 S, Fd Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3) X(Pola)
23.60 1 31 13 Xp22.2 ASB9 P Ankyrin repeat- and SOCS box-containing protein 9 300890 REc
23.61 4 29 14 Xp22.2 ATXN3L P Ataxin 3-like 300920 REc
23.62 7 11 17 Xq26.2 FIRRE, LINC01200 P Functional intergenic repeating RNA element 300999 REc, H X(Firre)
23.63 10 23 97 Xp22.2 BMX P BMX non-receptor tyrosine kinase 300101 A
23.64 1 10 92 Xp22.2 CMTX2 P Charcot-Marie-Tooth disease, X-linked recessive, 2 302801 Fd Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 (2)
23.65 9 26 16 Xp22.2 FRMPD4, PRESO, KIAA0316, MRX104 P FERM and PDZ domains-containing protein 4 300838 R, REc Mental retardation, X-linked 104, 300983 (3)
23.66 9 29 15 Xp22.2 GEMIN8, FAM51A1 P GEM-associated protein 8 300962 REc
23.67 11 13 07 Xp22.2 HBFQTL3, FCP1, FCPX, FCP P Fetal hemoglobin quantitative trait locus 3 305435 F, Fd Fetal hemoglobin quantitative trait locus 3 (2)
23.68 9 28 96 Xp22.2 GPM6B, M6B P Glycoprotein M6B 300051 A
23.69 5 26 13 Xp22.2 INE2 P Inactivation escape 2 300165 A
23.70 3 25 15 Xp22.2 MRX73 P Mental retardation, X-linked 73 300355 Fd between DXS8019 and DXS365 Mental retardation, X-linked 73 (2)
23.71 9 20 14 Xp22.2 PIR P Pirin 300931 REc
23.72 12 5 00 Xp22.2 RAB9 P RAS-associated protein RAB9 300284 R
23.73 1 13 11 Xp22.2 RBBP7 P Retinoblastoma-binding protein 7 300825 REc
23.74 5 27 93 Xp22.11 ZFX C Zinc finger protein, X-linked 314980 Ch, REa, Fd nonlyonizing X(Zfx)
23.75 1 18 18 Xp22.11 EIF2S3, EIF2G, MEHMO, MRXSBRK P Eukaryotic translation initiation factor 2, subunit 3 300161 A, H MEHMO syndrome, 300148 (3)
23.76 11 3 14 Xp22.12 PDHA1, PHE1A, PDHAD C Pyruvate dehydrogenase, E1-alpha polypeptide-1 300502 REa, A, Fd Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3) X(Pdha1)
23.77 2 1 11 Xp22.11 PHEX, HYP, HPDR1, LXHR C Phosphate regulating endopeptidase homolog, X-linked 300550 Fd Hypophosphatemic rickets, X-linked dominant, 307800 (3) X(Phex, Gy)
23.78 10 1 09 Xp22.13 PHKA2, PHK, XLG, PYKL, GSD9A C Phosphorylase kinase, liver, alpha-2 subunit 300798 Fd, REa, A Glycogen storage disease, type IXa1, 306000 (3); Glycogen storage disease, type IXa2, 306000 (3)
23.79 6 9 98 Xp22.13 PPEF1 P Protein phosphatase, EF hand calcium-binding domain 1 300109 REc
23.80 7 1 11 Xp22.12 RPS6KA3, RSK2, MRX19 C Ribosomal protein S6 kinase, 90kD, polypeptide 3 300075 Fd, RE Coffin-Lowry syndrome, 303600 (3); Mental retardation, X-linked 19, 300844 (3)
23.81 3 31 11 Xp22.13 RS1, XLRS1 C Retinoschisin 300839 F, Fd 25cM from XG Retinoschisis, 312700 (3)
23.82 2 7 01 Xp22.13 SCML1 P Sex comb on midleg, Drosophila, homolog-like 1 300227 REn
23.83 3 14 07 Xp22.2 TRAPPC2, SEDL, SEDT C Trafficking protein particle complex 2 (sedlin) 300202 Fd Spondyloepiphyseal dysplasia tarda, 313400 (3)
23.84 5 28 13 Xp22.12 YY2, ZNF631 P Transcription factor YY2 300570 REc
23.85 10 24 11 Xp21.3 ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 C Aristaless-related homeobox, X-linked 300382 REc, Fd Epileptic encephalopathy, early infantile, 1, 308350 (3); Lissencephaly, X-linked 2, 300215 (3); Mental retardation, X-linked 29 and others, 300419 (3); Proud syndrome, 300004 (3); Partington syndrome, 309510 (3); Hydranencephaly with abnormal genitalia, 300215 (3)
23.86 7 23 13 Xp22.2-p22.1 NHS, CXN, CTRCT40 C NHS gene 300457 Fd, REc Nance-Horan syndrome, 302350 (3); Cataract 40, X-linked, 302200 (3) ?X(Xcat)
23.87 10 15 98 Xp22.13-p21.1 MEHMO P MEHMO syndrome (Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity) 300148 Fd MEHMO syndrome (2)
23.88 12 8 17 Xp22.12 CNKSR2, CNK2, KIAA0902, MRXSHG P connector enhancer of KSR 2 300724 R, REc conflicting assignment to chr.1 Mental retardation, X-linked, syndromic, Houge type, 301008 (3)
23.89 12 15 10 Xp22.12 MAP3K15, ASK3 P Mitogen-activated protein kinase kinase kinase 15 300820 REc
23.90 4 29 14 Xp22.12 MBTPS2, S2P, IFAP, KFSDX, OLMSX P Membrane-bound transcription factor protease, site 2 300294 A, REc mutation identified in 1 OLMSX family IFAP syndrome with or without BRESHECK syndrome, 308205 (3); Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3); ?Olmsted syndrome, X-linked, 300918 (3)
23.91 10 23 11 Xp22.11 ACOT9, MTACT48 P Acyl-CoA thioesterase 9 300862 REc X(Acot9)
23.92 4 2 15 Xp22.11 PCYT1B P Phosphate cytidylyltransferase 1, choline, beta isoform 300948 REc
23.93 8 19 13 Xp22.11 PDK3, CMTX6 P Pyruvate dehydrogenase kinase, isoenzyme 3 300906 REc 1 family identified with mutation ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 (3)
23.94 8 18 14 Xp22.11 PRDX4, AOE372 P Peroxiredoxin 4 300927 REc
23.95 10 13 15 Xp22.11 PTCHD1, AUTSX4 P Patched domain-containing protein 1 300828 REc {Autism, susceptibility to, X-linked 4}, 300830 (3)
23.96 12 17 08 Xp22.11 APOO, MYO25, FAM121B P Apolipoprotein O 300753 REc
23.97 5 28 13 Xp22.2 CXorf15, FIAT P Chromosome X open reading frame 15 300677 REc
23.98 3 9 00 Xp22.2 CA5B P Carbonic anhydrase VB, mitochondrial 300230 A X(Car5b)
23.99 9 22 16 Xp22.11 KLHL15, KIAA1677 C Kelch-like 15 300980 Psh, REc Mental retardation, X-linked 103, 300982 (3)
23.100 6 3 14 Xp22.2 PIGA, PNH1, MCAHS2 P Phosphatidylinositol glycan, class A 311770 A pseudogene on chr.12 Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3); Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3) X(Piga)
23.101 10 13 15 Xp22.11 SAT1, SSAT C Spermidine/spermine N1-acetyltransferase 1 313020 Psh, A, D
23.102 7 1 11 Xp22.12 SMPX, DFNX4 C Small muscle protein, X-linked 300226 A, R, REc, Fd Deafness, X-linked 4, 300066 (3)
23.103 5 6 04 Xp22.11 SMS, SRS, MRSR C Spermine synthase 300105 REn, Fd Mental retardation, X-linked, Snyder-Robinson type, 309583 (3) X(Sms)
23.104 4 10 97 Xp22.2 ZRSR2, U2AF1RS2 P Zinc finger-, CCCH domain-, and RNA-binding motif-containing serine/arginine-rich protein 2 300028 A X(U2af1rs2)
23.105 3 13 06 Xp21.3-p21.2 IL1RAPL1, IL1R8, MRX21, MRX34 C Il-1 receptor accessory protein-like 1 300206 F, Fd, D, REc Mental retardation, X-linked 21/34, 300143 (3)
23.106 12 11 02 Xp22.12 SH3KBP1, CIN85 P SH3-domain kinase-binding protein 1 300374 A
23.107 10 12 90 Xp22.2 GLRA2 P Glycine receptor, alpha-2 polypeptide 305990 REa, Fd X(Glra2)
23.108 2 23 17 Xp11.23 ZNF81 C Zinc finger protein-81 (HFZ20) 314998 REa
23.109 2 2 14 Xp11.3 ZNF41 P Zinc finger protein-41 314995 REa
23.110 5 16 01 Xp22.2 ACE2, ACEH P Angiotensin I converting enzyme 2 300335 REc
23.111 12 18 89 Xp22 AGMX2, XLA2, IMD6 P Agammaglobulinemia, X-linked 2 (with growth hormone deficiency) 300310 Fd Agammaglobulinemia, X-linked 2 (2) X(Xid)
23.112 10 8 88 Xp22 AIC C Aicardi syndrome 304050 X/A, Ch ?in p22.31 with FDH as contiguous gene syndrome Aicardi syndrome (2)
23.113 5 29 12 Xp22 ANIB5 P Aneurysm, intracranial berry, 5 300870 Fd Aneurysm, intracranial berry, 5 (2)
23.114 7 17 14 Xp22.2 AP1S2, MRX59, MRXSF, MRXS21, MRXS5, PGS C Adaptor-related protein complex 1, sigma-2 subunit 300629 REc, Fd Mental retardation, X-linked syndromic 5, 304340 (3)
23.115 7 14 15 Xp22.13 CDKL5, STK9, ISSX, EIEE2 C Cyclin-dependent kinase-like 5 (serine/threonine protein kinase 9) 300203 Fd, Ch Epileptic encephalopathy, early infantile, 2, 300672 (3) X(Stk9)
23.116 5 7 03 Xp22.2 CTPS2 P Cytidine 5-prime triphosphate synthetase 2 300380 REc
23.117 2 1 01 Xp22.2 EGFL6 P Epidermal growth factor-like 6 300239 REa, REc
23.118 5 13 15 Xp22.2 HCCS, MCOPS7, LSDMCA1 C Holocytochrome c synthase (cytochrome c heme-lyase) 300056 REc Linear skin defects with multiple congenital anomalies 1, 309801 (3)
23.119 12 30 03 Xp21.3 MAGEB5 P Melanoma antigen, family B, 5 300466 REc
23.120 12 30 03 Xp21.3 MAGEB6 P Melanoma antigen, family B, 6 300467 REc
23.121 9 26 16 Xp22.2 MID1, OGS1, BBBG1, FXY, OSX C Midline-1 300552 Fd, Ch type II defect on chr.22 Opitz GBBB syndrome, type I, 300000 (3) X(Mid1)
23.122 10 18 00 Xp22 MNG2 P Multinodular goiter-2 300273 Fd Goiter, multinodular, 2 (2)
23.123 11 29 99 Xp22.13 RAI2 P Retinoic acid-induced 2 300217 REc
23.124 2 7 01 Xp22.13 SCML2 P Sex comb on midleg, Drosophila, homolog-like 2 300208 A
23.125 12 29 06 Xp22.2 TMEM27, NX17 P Transmembrane protein 27 (collectrin) 300631 REc
23.126 9 29 16 Xp22.13 ADGRG2, GPR64, HE6, CBAVDX P Adhesion G protein-coupled receptor G2 300572 A, H Vas deferens, congenital bilateral aplasia of, X-linked, 300985 (3) X(Gpr64)
23.127 3 19 09 Xp21.2 MAGEB1, MAGEL1, DAM10 P Melanoma antigen, family B, 1 300097 RE X(Smage1/2)
23.128 3 19 09 Xp21.2 MAGEB2, DAM6 P Melanoma antigen, family B, 2 300098 REc
23.129 10 26 98 Xp21.2 MAGEB3 P Melanoma antigen, family B, 3 300152 REc
23.130 10 26 98 Xp21.2 MAGEB4 P Melanoma antigen, family B, 4 300153 REc
23.131 3 19 09 Xp21.3 MAGEB10 P Melanoma antigen, family B, 10 300761 REc
23.132 3 19 09 Xp21.1 MAGEB16 P Melanoma antigen, family B, 16 300762 REc
23.133 3 19 09 Xp22.2 MAGEB17 P Melanoma antigen, family B, 17 300763 REc
23.134 3 26 07 Xp21.3 MENOQ1 P Menopause, natural, age at, QTL 1 300488 Fd {Menopause, natural, age at, QTL1} (2)
23.135 2 28 03 Xq21.31 TGIF2LX, TGIFLX P Transforming growth factor-beta-induced factor 2-like, X-linked 300411 REc
23.136 6 12 17 Xp21.2 NR0B1, DAX1, AHC, AHX, SRXY2 C Nuclear receptor subfamily 0, group B, member 1 300473 D, Fd distal to GK Adrenal hypoplasia, congenital, 300200 (3); 46XY sex reversal 2, dosage-sensitive, 300018 (3) X(Ahch)
23.137 2 24 04 Xp21.2 GK C Glycerol kinase 300474 D, Fd 2Mb distal to DMD; pseudogene on 4q32 Glycerol kinase deficiency, 307030 (3) X(Gyk)
23.138 1 25 93 Xp21.3-p21.2 RP6 L Retinitis pigmentosa-6, X-linked recessive 312612 Fd ?Retinitis pigmentosa, X-linked recessive, 6 (2)
23.139 3 18 08 Xp21.2 DFNX3, DFN4 C Deafness, X-linked 3 300030 Fd ?same as DMD Deafness, X-linked 3 (2)
23.140 3 14 02 Xp21.2-p21.1 DMD, BMD, CMD3B C Dystrophin 300377 X/A, Fd, D dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13 Duchenne muscular dystrophy, 310200 (3); Becker muscular dystrophy, 300376 (3); Cardiomyopathy, dilated, 3B, 302045 (3) X(Dmd)
23.141 3 23 14 Xp21.2 FTHL17 P Ferritin heavy polypeptide-like 17 300308 R, REc
23.142 1 11 16 Xp21.2 TAB3 P Tak1 (MAP3K7) binding protein 3 300480 REc
23.143 5 23 11 Xp21.1 XK, MCLDS C Kell blood group precursor 314850 F, D ~500kb distal to CGD McLeod syndrome with or without chronic granulomatous disease, 300842 (3)
23.144 2 5 99 Xp11.3 USP11, UHX1 C Ubiquitin-specific protease-11 (ubiquitin carboxyl-terminal hydrolase) 300050 REa, REc
23.145 8 25 98 Xp21.2-q21.1 XS, LUXS L Lutheran suppressor, X-linked 309050 Fd
23.146 9 8 14 Xp21.1-p11.4 CYBB, CGD, AMCBX2, IMD34 C Cytochrome b-245, beta polypeptide 300481 F, D proximal to DMD Chronic granulomatous disease, X-linked, 306400 (3); Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3) X(Cybb)
23.147 12 4 03 Xp11.4 OTC C Ornithine transcarbamylase 300461 L, REa, A, D proximal to DMD, CGD Ornithine transcarbamylase deficiency, 311250 (3) X(spf; Otc)
23.148 12 31 99 Xp11.4 SRPX, ETX1 C Sushi-repeat-containing protein, X chromosome 300187 Fd, D probably between OTC and CGD
23.149 10 5 11 Xp21.1-p11.23 MRXS17 P Mental retardation, X-linked, syndromic 17 300858 Fd between rs2748314 and rs5906782 Mental retardation, X-linked, syndromic 17 (2)
23.150 9 9 10 Xp21 DELXp21, CXDELp21 P Chromosome Xp21 deletion syndrome 300679 Ch contiguous gene deletion syndrome Chromosome Xp21 deletion syndrome (4)
23.151 3 6 01 Xp11.4 TCTE1L P T complex-associated testis-expressed 1-like 300302 REc
23.152 3 19 17 Xp11.4 ATP6AP2, ATP6M8-9, XMRE, MRXSH, XPDS C ATPase, H+ transporting, lysosomal, accessory protein 2 300556 REc, Fd mutation identified in 1 XPDS family Mental retardation, X-linked, syndromic, Hedera type, 300423 (3); ?Parkinsonism with spasticity, X-linked, 300911 (3)
23.153 3 30 04 Xp11.4 BCOR, KIAA1575, MCOPS2, MAA2, ANOP2 C BCL6 corepressor 300485 R, REc, Fd Microphthalmia, syndromic 2, 300166 (3)
23.154 3 28 12 Xp11.4 CASK, MICPCH, FGS4, CMG, MRXSNA C Calcium/calmodulin-dependent serine protein kinase 300172 R, Fd Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3); FG syndrome 4, 300422 (3); Mental retardation, with or without nystagmus, 300422 (3)
23.155 1 31 13 Xp11.4 NYX, CSNB1A, NBM1 C Nyctalopin 300278 Fd, REc Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3)
23.156 9 18 00 Xp11.4 GPR34 P G protein-coupled receptor 34 300241 A, REc
23.157 10 29 08 Xp11.4 GPR82 P G protein-coupled receptor 82 300748 REc
23.158 9 28 15 Xp11.4 MID1IP1, MIG12 P MID1-interacting protein 1 300961 REc
23.159 8 25 14 Xp11.3 NDP, ND, EVR2 C Norrin 300658 Fd, D Norrie disease, 310600 (3); Exudative vitreoretinopathy 2, X-linked, 305390 (3) X(Ndp)
23.160 6 7 10 Xp11.4 NYS5 P Nystagmus 5, congenital, X-linked 300589 Fd max lod at DXS993 Nystagmus 5, congenital, X-linked (2)
23.161 3 5 13 Xp11.4 RPGR, RP3, CRD, RP15, COD1, CORDX1 C Retinitis pigmentosa GTPase regulator 312610 D, Fd Retinitis pigmentosa 3, 300029 (3); Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3); Macular degeneration, X-linked atrophic, 300834 (3); Cone-rod dystrophy, X-linked, 1, 304020 (3)
23.162 2 28 08 Xp21.1 TMEM47, BCMP1 P Transmembrane protein 47 300698 R
23.163 3 1 16 Xp11.4 USP9X, DFFRX, MRX99, MRXS99F P Ubiquitin-specific protease-9, X chromosome (Drosophila fat facets related, X-linked) 300072 REa, REc Mental retardation, X-linked 99, 300919 (3); Mental retardation, X-linked 99, syndromic, female-restricted, 300968 (3)
23.164 3 25 02 Xp11.23 PFC, PFD C Properdin P factor, complement 300383 Fd, REa, A Properdin deficiency, X-linked, 312060 (3) X(Pfc)
23.165 9 9 11 Xp11.4-p11.21 OPA2 P Optic atrophy, X-linked 311050 Fd Optic atrophy 2, X-linked (2)
23.166 3 21 94 Xp11.3 ARAF1, RAFA1, PKS2 C Oncogene ARAF1 311010 REa, A, Fd X(Araf)
23.167 8 10 99 Xp11.4 MED14, CRSP2, CXorf4, TRAP170, EXLM1 P Mediator complex subunit 14 300182 A
23.168 8 24 04 Xp11.3-p11.2 SYN1 C Synapsin I 313440 A, Fd, REn 5kb from PFC Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) X(Syn1)
23.169 2 28 06 Xp11.3 CHST7, C6ST2 C Carbohydrate sulfotransferase 7 300375 REc
23.170 9 24 15 Xp11.3 CXorf36, DIA1R P Chromosome X open reading frame 36 300959 REc
23.171 2 18 09 Xp11.3 DELXp11.3, CXDELp11.3 P Chromosome Xp11.3 deletion syndrome (X-linked mental retardation with retinitis pigmentosa) 300578 Ch Chromosome Xp11.3 deletion syndrome (4)
23.172 5 28 13 Xp11.3 DUSP21, LMWDSP21 P Dual-specificity phosphatase 21 300678 REc
23.173 9 9 10 Xp11.3 EFHC2 P EF-hand domain (C-terminal)-containing protein 2 300817 REc
23.174 7 20 12 Xp11.3 FUNDC1 P FUN14 domain-containing protein 1 300871 REc
23.175 3 23 09 Xp11.3 MIR221, MIRN221 P Micro RNA 221 300568 REc near MIRN222
23.176 3 23 09 Xp11.3 MIR222, MIRN222 P Micro RNA 222 300569 REc near MIRN221
23.177 2 2 14 Xp11.3 MRX89 P Mental retardation, X-linked 89 300848 Ch t(X;7)(p11.3;q11.21) Mental retardation, X-linked 89 (2)
23.178 1 24 14 Xp11.3 MRX92 P Mental retardation, X-linked 92 300851 Fd previously associated with ZNF674 Mental retardation, X-linked 92 (2)
23.179 12 6 15 Xp11.3 NDUFB11, LSDMCA3 P NADH-dehydrogenase 1 beta subcomplex, 11 300403 R, REc mutation identified in 1 COX I deficient patient Linear skin defects with multiple congenital anomalies 3, 300952 (3); ?Mitochondrial complex I deficiency, 252010 (3)
23.180 6 27 02 Xp11.23 PCSK1N, PROSAAS P Proprotein convertase, subtilisin/kexin-type, 1, inhibitor of 300399 R
23.181 2 28 06 Xp11.3 SLC9A7, NHE7 C Solute carrier family 9 (sodium/hydrogen exchanger), member 7 300368 R
23.182 8 16 99 Xp11.23 ZNF21 C Zinc finger protein-12 314993 REc
23.183 3 23 06 Xp11.3 ZNF673, FLJ20344 C Zinc finger protein 673 300585 REc
23.184 4 17 13 Xp11.3 CDK16, PCTK1, PCTAIRE1 C Cyclin-dependent kinase 16 311550 A, REn
23.185 9 4 15 Xp11.4 DDX3X, DDX3, DBX, MRX102 P DEAD/H box-3, X-linked 300160 A Mental retardation, X-linked 102, 300958 (3)
23.186 12 18 07 Xp11.23 TBC1D25, OATL1 C TBC1 domain family, member 25 311240 REa, A, Fd
23.187 8 21 91 Xp11.3 TIMP1, TIMP, EPA C Erythroid-potentiating activity (tissue inhibitor of metalloproteinases) 305370 REa, A in intron of SYN1 X(Timp)
23.188 2 24 17 Xp11.3-p11.21 MRX45 P Mental retardation, X-linked 45 300498 Fd Mental retardation,X-linked 45 (2)
23.189 6 29 99 Xp11.3-p11.21 MRX50 P Mental retardation, X-linked nonspecific, type 50 300115 Fd Mental retardation, X-linked 50 (2)
23.190 2 25 08 Xp11.3-q12 AGSPX P Angioma serptiginosum, X-linked 300652 Fd between DXS8026 and DXS106 Angio serpiginosum (2)
23.191 9 22 96 Xp11.3-q13.3 MRX14 P Mental retardation, X-linked-14 300062 Fd Mental retardation, X-linked 14 (2)
23.192 11 9 11 Xp11.3-q22 MRXS7 P Mental retardation, X-linked, syndromic 7 300218 Fd Mental retardation, X-linked syndromic 7 (2)
23.193 9 30 04 Xp11.3-q22.3 MRX84 P Mental retardation, X-linked 84 300505 Fd 29 other MRX loci in same region Mental retardation, X-linked 84 (2)
23.194 1 31 13 Xp11.23 CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2 C Calcium channel, voltage-dependent, alpha-1F subunit 300110 REn, Fd Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3); Cone-rod dystrophy, X-linked, 3, 300476 (3); Aland Island eye disease, 300600 (3)
23.195 11 24 15 Xp11.23 CCDC22, RTSC2 P Coiled-coil domain-containing protein 22 300859 REc Ritscher-Schinzel syndrome 2, 300963 (3)
23.196 3 27 15 Xp11.23 CCDC120 P Coiled-coil domain-containing protein 120 300947 REc
23.197 2 1 07 Xp11.23 FTSJ1, JM23, SPB1, MRX44, MRX9 C FTSJ homolog 1 300499 REc Mental retardation, X-linked 9/44, 309549 (3)
23.198 9 2 08 Xp11.23 GAGE1 C G antigen 1 300594 Psh, A, REc
23.199 9 2 08 Xp11.23 GAGE2A P G antigen 2A 300720 REc
23.200 9 2 08 Xp11.23 GAGE2B P G antigen 2B 300726 REc
23.201 9 2 08 Xp11.23 GAGE2C, GAGE2 C G antigen 2C 300595 Psh, A, REc
23.202 9 2 08 Xp11.23 GAGE2D P G antigen 2D 300735 REc
23.203 9 2 08 Xp11.23 GAGE2E P G antigen 2E 300736 REc
23.204 5 28 13 Xp11.23 GAGE3 P G antigen 3 300596 REc
23.205 5 28 13 Xp11.23 GAGE4 P G antigen 4 300597 REc
23.206 6 1 12 Xp11.23 GAGE5 P G antigen 5 300598 REc
23.207 6 1 12 Xp11.23 GAGE6 P G antigen 6 300599 REc
23.208 3 13 08 Xp11.23 GAGE7 P G antigen 7 300601 REc
23.209 9 2 08 Xp11.23 GAGE7B C G antigen 7B 300637 Psh, A, REc
23.210 9 2 08 Xp11.23 GAGE10 P G antigen 10 300737 REc
23.211 9 2 08 Xp11.23 GAGE12C P G antigen 12C 300727 REc
23.212 9 2 08 Xp11.23 GAGE12D P G antigen 12D 300728 REc
23.213 9 2 08 Xp11.23 GAGE12E P G antigen 12E 300729 REc
23.214 9 2 08 Xp11.23 GAGE12F P G antigen 12F 300730 REc
23.215 9 2 08 Xp11.23 GAGE12G P G antigen 12G 300731 REc
23.216 9 2 08 Xp11.23 GAGE12H P G antigen 12H 300732 REc
23.217 9 2 08 Xp11.23 GAGE12J P G antigen 12J 300733 REc
23.218 9 2 08 Xp11.23 GAGE13 P G antigen 13 300734 REc
23.219 7 20 12 Xp11.23 GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP C GATA-binding protein-1 (globin transcription factor-1) 305371 REa, A Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3); Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3); Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3); Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3) X(Gf1)
23.220 8 28 17 Xp11.23 GPKOW, GPATCH5 P G-patch domain and KO@ motifs 301003 REc
23.221 2 17 15 Xp11.23 GRIPAP1, GRASP1, KIAA1167 C GRIP1-associated protein 1 300408 R, REc
23.222 2 17 15 Xp11.23 HDAC6, CPBHM C Histone deacetylase 6 300272 R, A mutation identified in 1 CPBHM family ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863 (3)
23.223 5 26 13 Xp11.3 INE1 P Inactivation escape 1 300164 A
23.224 6 1 12 Xp11.23 KCND1 P Potassium voltage-gated channel, SHAL-related subfamily, member 1 300281 R, REc
23.225 2 7 01 Xp11.22 MAGED1 P Melanoma antigen, family D, 1 300224 R
23.226 7 26 16 Xp11.3 MAOA, BRNRS C Monoamine oxidase A 309850 Fd, REa, D, A, REn NDP, MAOA, MAOB closely linked Brunner syndrome, 300615 (3); {Antisocial behavior}, 300615 (3) X(Maoa)
23.227 4 10 90 Xp11.3 MAOB C Monoamine oxidase B 309860 REa, D, A, REn X(Maob)
23.228 4 17 13 Xp11.23 MIR502 P Micro RNA 502 300893 REc
23.229 3 13 08 Xp11.22 NUDT10, DIPP3A, APS2 P Nucleoside diphosphate-linked moiety X motif 10 300527 REc
23.230 3 13 08 Xp11.22 NUDT11, DIPP3B, APS1 P Nucleoside diphosphate-linked moiety X motif 11 300528 REc
23.231 6 5 08 Xp11.23 OTUD5, DUBA P OTU domain-containing protein 5 300713 REc
23.232 9 4 08 Xp11.23 GAGEB1, PAGE1 C P antigen family, member 1 300288 REc, Psh
23.233 9 4 08 Xp11.23 PAGE4, GAGEC1 P P antigen family, member 4 300287 REa, R
23.234 5 26 13 Xp11.3 PHF16, JADE3, KIAA0215 P PHD finger protein 16 300618 REc X(Phf16)
23.235 8 31 07 Xp11.23 PORCN, PORC, DHOF, FODH C Porcupine, Drosophila, homolog of 300651 REc Focal dermal hypoplasia, 305600 (3)
23.236 4 6 11 Xp11.23 PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8 C Polyglutamine-binding protein 1 300463 REc, R, Fd Renpenning syndrome, 309500 (3)
23.237 3 31 11 Xp11.23 PRAF2, JM4 P PRA1 domain family, member 2 300840 REc
23.238 11 1 13 Xp11.23 PRICKLE3, LMO6 P Prickle, Drosophila, homolog of, 3 300111 REc
23.239 2 19 96 Xp11.23 RBM3 P RNA binding motif protein 3 300027 REc, REn
23.240 7 8 10 Xp11.3 RBM10, DXS8237E, KIAA0122, TARPS P RNA-binding motif protein 10 300080 REc TARP syndrome, 311900 (3)
23.241 6 18 10 Xp11.3 RP2 C Retinitis pigmentosa-2, X-linked recessive 300757 Fd Retinitis pigmentosa 2, 312600 (3)
23.242 8 22 07 Xp11.23 SLC38A5, SN2 P Solute carrier family 38 (amino acid transporter), member 5 300649 REc
23.243 3 13 08 Xp11.23 SPACA5, LOC389852 P Sperm acrosome associated 5 300593 REc
23.244 5 28 13 Xp11.23 SSX1, SSRC C Synovial sarcoma, X breakpoint 1 312820 Ch, RE, A, REc fused with SYT in synovial sarcoma ?Sarcoma, synovial, 300813 (3)
23.245 5 28 13 Xp11.23 SSX3 P Synovial sarcoma, X breakpoint 3 300325 Psh, REc
23.246 5 28 13 Xp11.23 SSX4 P Synovial sarcoma, X breakpoint 4 300326 Ch, RE, REc
23.247 5 28 13 Xp11.23 SSX6 P Synovial sarcoma, X breakpoint 6 300541 REc
23.248 5 26 13 Xp11.23 SSX9 P Sarcoma, synovial, X breakpoint 9 300544 REc
23.249 5 28 13 Xp11.23 SSX5 P Synovial sarcoma, X breakpoint 5 300327 REc
23.250 2 1 01 Xp11.23 SUV39H1 P Suppressor of variegation 3-9, Drosophila, homolog of, 1 300254 REc
23.251 2 24 12 Xp11.3 UBA1, UBE1, GXP1, A1ST, SMAX2, AMCX1 C Ubiquitin-like modifier-activating enzyme 1 314370 A, S, Ch, REa, Fd escapes inactivation Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
23.252 6 1 12 Xp11.23 UXT P Ubiquitously expressed transcript 300234 REc
23.253 11 2 04 Xp11.23 WDR13 P WD repeat-containing protein 13 300512 A, REc
23.254 4 17 13 Xp11.23 WDR45, WIPI4, NBIA5 P WD repeat-containing protein 45 300526 REc ?pseudogene on 4q31.3 Neurodegeneration with brain iron accumulation 5, 300894 (3)
23.255 10 12 10 Xp11.23 ZNF630 P Zinc finger protein 630 300819 REc
23.256 10 12 09 Xp11.23-p11.22 DUPXp11.23p11.22, CXDUPp11.23p11.22 P Chromosome Xp11.23-p11.22 duplication syndrome 300801 Ch Chromosome Xp11.23-p11.22 duplication syndrome (4)
23.257 9 24 15 Xp11.23 EBP, CDPX2, CPXD, CPX, MEND P Emopamil-binding protein 300205 Fd, R, H Chondrodysplasia punctata, X-linked dominant, 302960 (3); MEND syndrome, 300960 (3) X(Bpa)
23.258 9 30 99 Xp11.23 PLP2 P Proteolipid protein 2 300112 REc
23.259 8 6 13 Xp11.23 SLC35A2, UGALT, UGTL, UGT2, CDGX, CDG2M P Solute carrier family 35 (UDP-galactose transporter), member 2 314375 A Congenital disorder of glycosylation, type IIm, 300896 (3)
23.260 10 8 09 Xp11.23 SYP, MRXSYP P Synaptophysin 313475 RE, REa, F, Fd Mental retardation, X-linked 96, 300802 (3) X(Syp)
23.261 11 13 17 Xp11.23 WAS, IMD2, THC1, SCNX C Wiskott-Aldrich syndrome gene 300392 Fd, X/A t(18;X)(q11.2;p11.2); distal to TIMP Wiskott-Aldrich syndrome, 301000 (3); Thrombocytopenia, X-linked, 313900 (3); Neutropenia, severe congenital, X-linked, 300299 (3); Thrombocytopenia, X-linked, intermittent, 313900 (3) X(Wasp, ?sf)
23.262 2 28 03 Xp11.22 GSPT2, GST2, ERF3B P G1- to S-phase transition 2 300418 R
23.263 9 26 11 Xp11.21 UBQLN2, PLIC2, CHAP1, ALS15 C Ubiquilin 2 300264 R Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3)
23.264 1 27 04 Xp11.23 FOXP3, IPEX, AIID, XPID, PIDX C Forkhead box P3 (scurfin) 300292 Fd, REc Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3); {Diabetes mellitus, type I, susceptibility to}, 222100 (3) X(sf, Foxp3)
23.265 3 22 07 Xp11.22 CCNB3 P Cyclin B3 300456 A, REc
23.266 8 31 07 Xp11.23 CLCN5, CLCK2, NPHL2, DENTS, NPHL1 C Chloride channel-5 300008 RE Dent disease, 300009 (3); Nephrolithiasis, type I, 310468 (3); Hypophosphatemic rickets, 300554 (3); Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3) X(Clcn5)
23.267 3 9 11 Xp11.22 DGKK P Diacylglycerol kinase, kappa, 142kD 300837 REc
23.268 8 22 14 Xp11.22 DUPXp11.22, MRX17, MRX31 P Xp11.22 microduplication syndrome 300705 Ch minimal duplicated region 228 kb overlapping HUWE1 and HSD17B10 Xp11.22 microduplication syndrome (4)
23.269 7 18 12 Xp11.22 GNL3L P Guanine nucleotide binding protein-like 3-like protein 300873 REc
23.270 2 2 14 Xp11.22 GPR173, SREB3 P G protein-coupled receptor 173 300253 R, REc
23.271 4 23 08 Xp11.22 HPCX2 P Prostate cancer, hereditary, X-linked 2 300704 Fd associated with rs5945572 {Prostate cancer, hereditary, X-linked 2} (2)
23.272 9 12 11 Xp11.22 HYSP4 P Hypospadias 4, X-linked, susceptibility to 300856 Fd associated with rs1934179 and rs7063116 {Hypospadias 4, X-linked, susceptibility to} (2)
23.273 5 11 16 Xp11.22 IQSEC2, KIAA0522, MRX1, MRX78 P IQ motif- and Sec7 domain-containing protein 2 300522 R, REc, H Mental retardation, X-linked 1/78, 309530 (3) X(Iqsec2)
23.274 12 21 09 Xp11.22 MIR98, MIRN98 P Micro RNA 98 300810 REc
23.275 3 23 09 Xp11.22 MIRLET7F2, LET7F2, MIRNLET7F2 P Micro RNA Let7f2 300721 REc
23.276 5 28 13 Xp11.22 SSX2 P Sarcoma, synovial, X breakpoint 2 300192 Ch, RE ?Sarcoma, synovial, 300813 (3)
23.277 5 29 13 Xp11.22 SSX7 P Sarcoma, synovial, X breakpoint 7 300542 REc
23.278 5 28 13 Xp11.22 SSX8 P Sarcoma, synovial, X breakpoint 8 300543 REc
23.279 9 20 11 Xp11.23 TFE3, RCCX1 P Transcription factor for IgH enhancer 314310 REa, Fd fuses with PRCC in RCCP Renal cell carcinoma, papillary, 1, 300854 (3) X(Tfe3)
23.280 3 25 15 Xp11.22 TSR2, WGG1, DBA14 P TSR2, 20S rRNA accumulation, S. cerevisiae, homolog of 300945 REc mutation identified in 1 DBA14 family ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 (3)
23.281 9 22 08 Xp11.22 XAGE1A P X antigen family, member 1A 300742 REc
23.282 9 22 08 Xp11.22 XAGE1B P X antigen family, member 1B 300743 REc
23.283 9 22 08 Xp11.22 XAGE1C P X antigen family, member 1C 300744 REc
23.284 9 22 08 Xp11.22 XAGE1E P X antigen family, member 1E 300745 REc
23.285 5 26 13 Xp11.22 XAGE2, GAGED3 P X antigen family, member 2 300416 REc
23.286 9 8 08 Xp11.22 XAGE3, PLAC6 P X antigen family, member 3 300740 REc
23.287 10 24 11 Xp11.22 KDM5C, JARID1C, SMCX, DXS1272E, XE169, MRXSCJ C Lysine-specific demethylase 5C (Jumonji, AT-rich interactive domain 1C) 314690 REa, REn, A escapes inactivation Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) X(Smcx)
23.288 2 9 17 Xp11.22 SMC1A, SMC1L1, SMC1, DXS423E, KIAA0178, CDLS2 P Segregation of mitotic chromosomes 1 (SMC1, yeast, homolog of; DXS423E; SB1.8) 300040 REn escapes lyonization Cornelia de Lange syndrome 2, 300590 (3) X(Sb1.8)
23.289 6 10 98 Xp11.21 TRO P Trophinin 300132 A
23.290 3 17 16 Xp11.21 ALAS2, ANH1, ASB, XLEPP, XLSA, SIDBA1 C Aminolevulinate, delta-, synthase-2 301300 Ch, REa, A, Fd Anemia, sideroblastic, 1, 300751 (3); Protoporphyria, erythropoietic, X-linked, 300752 (3) X(Alas)
23.291 5 12 09 Xp11.21 APEX2, APE2, XTH2, APEXL2 P APEX nuclease (apurinic/apyrimidinic endonuclease) 2 300773 REc
23.292 5 26 13 Xp11.21 DSF34 P DXF34 gene 300621 REc X(Dxf34)
23.293 10 27 11 Xp11.22 FGD1, FGDY, AAS, MRXS16 C FYVE, RhoGEF, and PH domain-containing protein 1 300546 X/A, Fd Aarskog-Scott syndrome, 305400 (3); Mental retardation, X-linked syndromic 16, 305400 (3) X(Fgdy)
23.294 4 10 15 Xp11.21 FOXR2, FOXN6 P Forkhead box R2 300949 REc, H X(Foxn6)
23.295 5 28 13 Xp11.21 MAGEH1, MAGEH P Melanoma antigen, family H, 1 300548 REc
23.296 9 4 08 Xp11.21 PAGE2, GAGEC2 P P antigen family, member 2 300738 REc
23.297 9 4 08 Xp11.21 PAGE3, GAGEC1 P P antigen family, member 3 300739 REc
23.298 12 22 17 Xp11.21 PAGE5, CT16, GAGEE1 C P antigen family, member 5 301009 REc
23.299 4 27 00 Xp11.21 PFKFB1, PFRX P Fructose-2,6-bisphosphatase 311790 REa, A, REc ?Xq27-q25; ?Xcen-q13
23.300 8 29 08 Xp11.21 RRAGB, RAGB P Ras-related GTP-binding protein B 300725 R, REc
23.301 5 26 13 Xp11.21 SNORA11 P Small nucleolar RNA, H/ACA box, 11 300662 REc in intron 1 of MAGED2
23.302 5 26 13 Xp11.21 SPIN2 P Spindlin family, member 2 300517 REc
23.303 1 8 01 Xp11.21 ZXDA P Zinc finger-encoding gene, X-linked, duplicated, A 300235 REa, REc
23.304 1 8 01 Xp11.21 ZXDB P Zinc finger-encoding gene, X-linked, duplicated, B 300236 REa, REc
23.305 8 25 04 Xp11.21-q22.3 MRX52 P Mental retardation, X-linked 52 300504 Fd max lod at DXS559 Mental retardation, X-linked 52 (2)
23.306 10 1 99 Xp11.22 AKAP4, AKAP82, HI, FSC1 P A-kinase anchor protein 4, 82kD 300185 A
23.307 8 31 06 Xp11.22 BMP15, GDF9B, ODG2, POF4 P Bone morphogenetic protein 15 300247 A Ovarian dysgenesis 2, 300510 (3); Premature ovarian failure 4, 300510 (3) X(Bmp15)
23.308 9 22 08 Xp11.22 FAM120C, CXorf17 P Family with sequence similarity 120, member C 300741 REc
23.309 5 10 17 Xp11.22 HSD17B10, HADH2, ERAB, MRXS10, HSD10MD C 17-beta-hydroxysteroid dehydrogenase X 300256 REc, Fd HSD10 mitochondrial disease, 300438 (3)
23.310 9 12 92 Xp11.23 ELK1 C ELK1, member of ETS oncogene family 311040 REa, A distal to OATL1 X(Elk1)
23.311 7 2 03 Xp11.23 HRAS2, HRASP P v-Ha-ras harvey rat sarcoma viral oncogene homolog 2 300437 REc
23.312 6 5 08 Xp11.22 HUWE1, UREB1, KIAA0312, LASU1 P HECT, UBA, and WWE domains-containing protein 1 300697 REc, R Mental retardation, X-linked syndromic, Turner type, 300706 (3) X(Huwe1)
23.313 1 26 12 Xp11.3 KDM6A, UTX, KABUK2 P Lysine (K)-specific demethylase 6A 300128 REa, A UTY also in mouse and man; escapes inactivation Kabuki syndrome 2, 300867 (3) X(Utx)
23.314 5 19 16 Xp11.21 MAGED2, MAGED, BARTS5 C Melanoma antigen, family D, 2 300470 REc, A Bartter syndrome, type 5, antenatal, transient, 300971 (3)
23.315 4 17 06 Xp11.22 PHF8, ZNF422, KIAA1111, MRXSSD C PHD finger protein 8 300560 Fd, REc Mental retardation syndrome, X-linked, Siderius type, 300263 (3)
23.316 4 20 17 Xp11.22 SHROOM4, KIAA1202, SDSX C Shroom family member 4 300579 Fd, Ch, REc Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
23.317 7 6 00 Xp11.23 TIMM17B, TIM17B P Translocase of inner mitochondrial membrane 17, yeast, homolog of, B 300249 A
23.318 9 2 08 Xp11.22 TSPYL2, CDA1, DENTT, CINAP P TSPY-like 2 300564 R, REc
23.319 5 26 05 Xp11.22 WNK3, PRKWNK3, KIAA1566 C WNK lysine deficient protein kinase 3 300358 R, REc
23.320 9 26 16 Xp11.23 USP27X, USP22L, MRX105 P Ubiquitin-specific protease 27, X-linked 300975 REc Mental retardation 105, 300984 (3)
23.321 2 15 96 Xp11.3 ZNF157 C Zinc finger protein-157 (HZF22) 300024 REc
23.322 10 22 99 Xp11.3 RGN, SMP30 P Regucalcin 300212 Psh
23.323 5 12 03 Xp11.2-q12 MRX81 P Mental retardation, X-linked 81 300433 Fd between DXS1039 and DXS1216 Mental retardation, X-linked 81 (2)
23.324 2 24 17 Xp11.21 NBDY, LINC01420, NOBODY P Negative regulator of P-body association 300992 REc
23.325 3 13 08 Xp11.21 FAAH2 P Fatty acid amide hydrolase 2 300654 REc
23.326 10 14 09 Xp11 GRDX, GD3 P Graves disease, susceptibility to, X-linked 300351 Fd {Graves disease, susceptibility to, X-linked} (2)
23.327 6 29 98 Xp11 IDDMX P Diabetes mellitus, insulin-dependent, X-linked, susceptibility to 300136 Fd only with DR3 {Diabetes mellitus, insulin-dependent, X-linked} (2)
23.328 12 28 05 Xp11 LOAS P Leber optic atrophy, susceptibility to 308905 Fd {Leber optic atrophy, susceptibility to} (2)
23.329 3 11 08 Xp11.22 MAGED4, MAGEE1, KIAA1859 P Melanoma antigen, family D, 4 300702 R
23.330 3 19 09 Xp11.22 MAGED4B P Melanoma antigen, family D, 4B 300765 REc
23.331 2 17 06 Xp11 MRXS12 L Mental retardation, X-linked, syndromic 12 309545 Fd ?Mental retardation, X-linked, syndromic 12 (2)
23.332 5 26 13 Xp11.22 SPANXN5 P SPANX family, member N5 300668 REc
23.333 1 24 14 Xp11.3 ZNF674 P Zinc finger protein 674 300573 REc
23.334 4 16 96 Xp11-q21 MRX20 P Mental retardation, X-linked-20 300047 Fd Mental retardation, X-linked 20 (2)
23.335 1 10 93 Xp11-q21 PRS, MRXS2 P Prieto syndrome (mental retardation, X-linked, syndromic 2, with dysmorphism and cerebral atrophy) 309610 Fd Prieto syndrome (2)
23.336 12 1 94 Xp22.2 CALB3, CABP9K P Calbindin 3 (vitamin D-dependent calcium-binding protein) 302020 REa
23.337 12 22 17 Xq13.1 ARR3, MYP26 P Arrestin 3, retinal 301770 REa Myopia 26, X-linked, female-limited, 301010 (3)
23.338 8 5 97 Xq CGF1 P Cognitive function-1, social 300082 Ch imprinted locus [Social cognition] (2)
23.339 3 28 90 Xq DXS435E, A11 P A-11 gene 300010 REc
23.340 11 29 11 Xq MGR2 P Migraine, familial typical, susceptibility to, 2 300125 Fd {Migraine, familial typical, susceptibility to, 2} (2)
23.341 8 15 13 Xq MTBSX P Mycobacterium tuberculosis, susceptibility to, X-linked 300259 Fd {Mycobacterium tuberculosis, susceptibility, X-linked} (2)
23.342 11 8 03 Xp11.4 TSPAN7, TM4SF2, MXS1, A15, MRX58 C Tetraspanin 7 300096 REa, Ch, A Mental retardation, X-linked 58, 300210 (3)
23.343 5 15 08 Xq11-q12 AGA2 P Alopecia, androgenetic, 2 300710 Fd associated with rs6152 Alopecia, androgenetic, 2 (2)
23.344 2 23 09 Xq12 AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 C Androgen receptor (dihydrotestosterone receptor) 313700 S, Fd, REa, A Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3) X(Tfm)
23.345 8 9 99 Xq12 HEPH P Hephaestin 300167 R, H, Psh, REc X(Heph)
23.346 9 23 13 Xq11.2 AMER1, FAM123B, WTX, OSCS C APC membrane recruitment protein 1 300647 REc Osteopathia striata with cranial sclerosis, 300373 (3)
23.347 1 31 13 Xq11.2 ASB12 P Ankyrin repeat- and SOCS box-containing protein 12 300891 REc
23.348 12 22 00 Xq11.2 SPG16 P Spastic paraplegia 16, X-linked, complicated 300266 Fd Spastic paraplegia 16, X-linked, complicated (2)
23.349 7 1 13 Xq11.2 ZC4H2, KIAA1166, WRWF C Zinc finger C4H2 domain-containing protein 300897 REc, R Wieacker-Wolff syndrome, 314580 (3)
23.350 12 15 16 Xq12 MSN, IMD50 P Moesin 309845 REa, A Immunodeficiency 50, 300988 (3) X(Msn)
23.351 2 28 08 Xq12 EDAR2, XEDAR, EDAA2R C Ectodysplasin A2 receptor 300276 REc
23.352 6 23 04 Xq13.1 EFNB1, EPLG2, CFNS, CFND C eph-related receptor tyrosine kinase ligand 2 (ephrin B1) 300035 REa, A, REc, H, Ch, Fd ?CFNS also on Xp22 Craniofrontonasal dysplasia, 304110 (3) X(Eplg2)
23.353 3 2 06 Xq13.1 INGX, ING2 P Inhibitor of growth, X-linked 300452 REc
23.354 8 10 16 Xq12 LAS1L, WTS P Las1-like ribosome biogenesis factor 300964 REc Wilson-Turner syndrome, 309585 (3)
23.355 3 23 09 Xq12 MIR223, MIRN223 P Micro RNA 223 300694 REc
23.356 3 24 06 Xq12 OPHN1, MRX60 P Oligophrenin-1 300127 Ch, A Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
23.357 8 30 01 Xq12 Z39IG P Immunoglobulin superfamily protein Z39IG 300353 REc
23.358 1 9 13 Xq11-q12 ZC3H12B, MCPIP2 P Zinc finger CCCH domain-containing protein 12B 300889 REc
23.359 6 7 10 Xq21.1 ATP7A, MNK, MK, OHS, SMAX3 C ATPase, Cu++ transporting, alpha polypeptide 300011 Fc, X/A, H probably Xq13.2-q13.3, ~150kb prox. to PGK1 Menkes disease, 309400 (3); Occipital horn syndrome, 304150 (3); Spinal muscular atrophy, distal, X-linked 3, 300489 (3) X(Mnk)
23.360 5 16 01 Xq13.1 ITGB1BP2 P Integrin, beta-1, binding protein of, 2 300332 A X(Itgb1bp2)
23.361 2 6 07 Xp11.4-p11.2 GAGE8 P G antigen 8 300638 Psh, A
23.362 12 17 12 Xq13.1 EDA, ED1, ECTD1, HED1, STHAGX1 C Ectodysplasin A 300451 X/A, H, Fd Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3); Tooth agenesis, selective, X-linked 1, 313500 (3) X(Ta)
23.363 6 12 17 Xq12-q13 YIPF6 P YIP1 domain family, member 6 300996 REc
23.364 5 13 13 Xq21.1 TBX22, CPX, ABERS C T-box 22 300307 REc, Fd 1 ABERS family identified with mutation Cleft palate with ankyloglossia, 303400 (3); ?Abruzzo-Erickson syndrome, 302905 (3)
23.365 10 10 02 Xp22.3 FGS3 P FG syndrome 3 300406 Fd FG syndrome 3 (2)
23.366 12 11 03 Xq12-q21.3 MRX77 P Mental retardation, X-linked 77 300454 Fd Mental retardation, X-linked 77 (2)
23.367 6 9 08 Xq12-q21.31 MRXS9 P Mental retardation, X-linked, syndromic 9 300709 Fd between DXS1111 and DXS1197 Mental retardation, X-linked, syndromic 9 (2)
23.368 12 7 07 Xq21.1 ATRX, XH2, XNP, SHS, SFM1, MRXHF1 C ATR-X gene (helicase 2; X-linked nuclear protein) 300032 RE, Fd Alpha-thalassemia/mental retardation syndrome, 301040 (3); Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3); Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) X(Xh2)
23.369 2 26 10 Xq21.1 BRWD3, MRX93 P Bromodomain-and WD repeat-containing protein 3 300553 REc Mental retardation, X-linked 93, 300659 (3)
23.370 3 1 06 Xq13.1 CXCR3, GPR9, CD182 C Chemokine, C-X-C motif, receptor 3 (G protein-coupled receptor-9) 300574 A, REc, R previously assigned to chr.8
23.371 9 10 12 Xq13.1 DMRTC1 P Doublesex- and MAB3-related transcription factor C1 300878 REc
23.372 8 10 16 Xq13.1 HDAC8, MRXS6, CDLS5 C Histone deacetylase 8 300269 A, R, Fd Cornelia de Lange syndrome 5, 300882 (3)
23.373 5 18 95 Xq13.1 IL2RG, SCIDX1, SCIDX, IMD4 C Interleukin-2 receptor, gamma 308380 Fd linked to DXS159 Severe combined immunodeficiency, X-linked, 300400 (3); Combined immunodeficiency, X-linked, moderate, 312863 (3) X(Il2rg)
23.374 5 13 13 Xq13.1 MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX C Mediator of RNA polymerase II transcription, subunit 12, S. cerevisiae, homolog of 300188 REc, Fd Opitz-Kaveggia syndrome, 305450 (3); Lujan-Fryns syndrome, 309520 (3); Ohdo syndrome, X-linked, 300895 (3) X(Opa1)
23.375 12 16 05 Xq13.1 NLGN3, ASPGX1, AUTSX1 P Neuroligin 3 300336 REc {Autism susceptibility, X-linked 1}, 300425 (3); {Asperger syndrome susceptibility, X-linked 1}, 300494 (3)
23.376 12 11 02 Xq21.1 NSBP1 P Nucleosomal binding protein 1 300385 R X(Nsbp1)
23.377 6 28 17 Xq13.1 OGT, MRX106 P O-linked N-acetylglucosamine transferase 300255 A, R Mental retardation, X-linked 106, 300997 (3) X(Ogt)
23.378 10 15 97 Xq13.1 P2RY4, NRU, P2Y4 P Pyrimidinergic receptor P2Y, G-protein coupled, 4 300038 A
23.379 7 2 07 Xq21.1 PGK1, PGKA C Phosphoglycerate kinase-1 311800 S, R, REb, Fd ?Xq13.3; pseudogenes PGK1P1 on Xq, PGK1P2 on chr. 6 Phosphoglycerate kinase 1 deficiency, 300653 (3) X(Pgk1)
23.380 5 15 07 Xq13.1 PHKA1 C Phosphorylase kinase, muscle, alpha polypeptide 311870 REa, A, REn ?proximal and close to PGKA; Muscle glycogenosis, 300559 (3) X(Phka)
23.381 2 1 01 Xq13.1 PIN4, PAR14, EPVH P Peptidyl-prolyl cis/trans isomerase, nima-interacting, 4 300252 REc
23.382 1 11 16 Xq13.1 TAF1, TAF2A, CCG1, BA2R, DYT3, MRXS33 C TAF1 RNA polymerase II, TATA box-binding protein-associated factor, 250kD 313650 S, H SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250 (3); Mental retardation, X-linked, syndromic 33, 300966 (3) X(Ccg1)
23.383 8 29 02 Xq21.1 CYSLTR1, CYSLT1 P Cysteinyl leukotriene receptor 1 300201 REa, R
23.384 8 10 16 Xq13.2 RNF12, RLIM, MRX61 P Putative RING zinc finger protein NY-REN-43 antigen 300379 A Mental retardation, X-linked 61, 300978 (3) X(Rnf12)
23.385 4 24 08 Xq21.1 LPAR4, LPA4, P2RY9, P2Y9, GPR23 P Lysophosphatidic acid receptor 4 300086 A
23.386 10 25 11 Xq13-q22 MCS, MRXS4 P Miles-Carpenter syndrome (mental retardation, X-linked, syndromic 4, with congenital contractures and low fingertip arches) 309605 Fd linked to DXYS1 Miles-Carpenter syndrome (2)
23.387 12 27 01 Xq13.1 ACRC P Acidic repeat-containing gene 300369 REc
23.388 7 18 14 Xq13.1 AWAT1, DGA2 P Acyl-CoA wax alcohol acyltransferase 1 300924 REc
23.389 7 18 14 Xq13.1 DGAT2L6, DC3 P Diacylglycerol O-acyltransferase 2-like 6 300926 REc
23.390 7 18 14 Xq13.1 AWAT2, DC4, MFAT P Acyl-CoA wax alcohol acyltransferase 2 300925 REc X(Awat2)
23.391 8 10 11 Xq13.1 DLG3, NEDLG, SAP102, MRX90 P Discs large, Drosophila, homolog of, 3 300189 A, R Mental retardation, X-linked 90, 300850 (3)
23.392 1 17 08 Xq13.1 ERCC6L, PICH P ERCC6-like 300687 REc
23.393 4 17 13 Xq13.1 FOXO4, MLLT7, AFX1 C Forkhead box O4 300033 Ch
23.394 8 1 16 Xq13.1 GDPD2, GDE3 P Glycerophosphodiester phosphodiesterase domain-containing protein 2 300940 REc
23.395 10 27 93 Xq13.1 GJB1, CX32, CMTX1 C Gap junction protein, beta-1, 32kD (connexin 32) 304040 REa, Fd Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3) X(Gjb1)
23.396 8 11 14 Xq13.1 KIF4A, KIF4, MRX100 P Kinesin family member 4A 300521 A mutation identified in 1 MRX100 family ?Mental retardation, X-linked 100, 300923 (3)
23.397 3 19 09 Xq13.3 MAGEE1, DAMAGE, KIAA1587 P Melanoma antigen, family E, 1 300759 REc
23.398 3 19 09 Xq13.3 MAGEE2 P Melanoma antigen, family E, 2 300760 REc
23.399 1 13 99 Xq13.1 MSG1 P Melanocyte-specific gene 1 300149 Psh X(msg1)
23.400 2 19 16 Xq13.1 NONO, NRB54, MRXS34 C Non-Pou domain-containing octamer (ATGCAAAT) binding protein (nuclear RNA-binding protein, 54-kD) 300084 A 2Mb proximal to PHKA1 Mental retardation, X-linked, syndromic 34, 300967 (3)
23.401 6 5 08 Xq13.1 OTUD6A, DUBA2 P OTU domain-containing protein 6A 300714 REc
23.402 1 5 07 Xq13.1 PDZD11, AIPP1, PISP P PDZ domain-containing 11 300632 REc
23.403 6 19 12 Xq13.1 PJA1 P Praja 1 300420 REc
23.404 4 4 00 Xq13.1 RPS4X, CCG2, SCAR C Ribosomal protein S4, X-linked 312760 A, REa, REn cen-RPS4X-PHKA1-XIST-qter in 2.6Mb X(Rps4x)
23.405 5 28 13 Xq13.1 SLC7A3, CAT3 P Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 300443 REc, R
23.406 12 10 12 Xq13.1 SNX12 P Sorting nexin 12 300883 REc
23.407 1 28 08 Xq13.1 STARD8, DLC3, STARTGAP3, KIAA0189 C START domain-containing protein 8 300689 R, REc
23.408 6 18 15 Xq13.1 TEX11, SPGFX2 P Testis-expressed gene 11 300311 R, REc Spermatogenic failure, X-linked, 2, 309120 (3)
23.409 10 12 99 Xq13.1 ZMYM3, ZNF261, DXS6673E P Zinc finger, MYM-type 3 300061 REc
23.410 2 2 14 Xq21.1 MAGT1, IAP, XMEN P Magnesium transporter 1 300715 REc, H Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3) X(Magt1)
23.411 10 29 99 Xq13.3 ABCB7, ABC7, ASAT P ATP-binding cassette-7 300135 A Anemia, sideroblastic, with ataxia, 301310 (3) X(Abc7)
23.412 2 3 04 Xq13.1 IGBP1 P Immunoglobulin-binding protein 1 300139 A Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3)
23.413 5 19 06 Xq13.1-q22.1 CFTDX P Myopathy, congenital, with fiber-type disproportion, X-linked 300580 Fd between DXS8019 and DXS99 Myopathy, congenital, with fiber-type disproportion, X-linked (2)
23.414 12 24 08 Xq21.1 TAF9B, TAF9L, TAFII31L P TAF9B RNA polymerase II, TATA box-binding protein-associated factor, 31kD 300754 R, REc
23.415 9 14 95 Xq13.2 CDX4 P Caudal type homeo box transcription factor 4 300025 REn X(Cdx4)
23.416 6 22 14 Xq13.2 CHIC1, BRX P Cystein-rich hydrophobic domain protein 1 300922 REc
23.417 11 24 14 Xq13.2 FTX, LINC00182 P FTX transcript, XIST regulator, noncoding 300936 REc X(Ftx)
23.418 10 25 11 Xq13.2 MRXSAB P Abidi X-linked mental retardation syndrome 300262 Fd Mental retardation, X-linked syndromic, Abidi type (2)
23.419 6 1 12 Xq13.2 NAP1L2, BPX P Nucleosome assembly protein 1-like 2 300026 REc
23.420 2 8 11 Xq13.2 NCRNA00183, JPX, ENOX P Noncoding RNA 183 300832 REc
23.421 9 13 17 Xq13.3 NEXMIF, KIAA2022, MRX98 P Neurite extension and migration factor 300524 Ch inv(X)(q13;p22) Mental retardation, X-linked 98, 300912 (3)
23.422 6 21 05 Xq13.2 SLC16A2, DXS128, XPCT C Solute carrier family 16 (monocarboxylic acid transporters), member 2 300095 RE Allan-Herndon-Dudley syndrome, 300523 (3)
23.423 3 29 99 Xq13.2 TSIX P X-inactivation-specific transcript-antisense 300181 REn
23.424 3 17 98 Xq13.2 XIC, XCE, XIST, SXI1 C X chromosome controlling element (X-inactivation center) 314670 Ch, S, A q13-q21; metaphase bend, or fold, at q13.3-q21.1 X-inactivation, familial skewed, 300087 (3) X(Xce)
23.425 8 26 15 Xq13.3 BRAFP1 P BRAF pseudogene 1 300956 REc 10(Brafrs1)
23.426 4 15 11 Xq21.1 PGAM4, PGAM3 P Phosphoglycerate mutase family member 4 300567 REn
23.427 5 21 99 Xq21.1 SH3BGR P SH3-binding domain glutamic acid-rich protein-like 300190 A
23.428 5 26 13 Xq13.3 UPRT P Uracil phosphoribosyltransferase, S. cerevisiae, homolog of 300656 REc
23.429 2 21 06 Xq13.3 ZDHHC15, MRX91 P Zinc finger DHHC domain-containing protein 15 300576 REc, Ch disruption of ZDHHC15 identified in 1 patient ?Mental retardation, X-linked 91, 300577 (3)
23.430 3 8 00 Xq21.1 ITM2A, E25A P Integral membrane protein 2A 300222 A X(Itm2a)
23.431 5 18 12 Xq21 DELXq21, CXDELq21 P Chromosome Xq21 deletion syndrome 303110 Ch at least CHM and POU3F4 deleted Choroideremia, deafness, and mental retardation (4)
23.432 7 17 06 Xq21.1 FLJ22792, POF1B, POF2B P FLJ22792 gene 300603 REc, Ch mutation identified in 1 POF2B family ?Premature ovarian failure 2B, 300604 (3)
23.433 3 6 01 Xq21.1 RPS6KA6, RSK4 P Ribosomal protein S6 kinase, 90kD, 6 300303 REc
23.434 7 17 01 Xq21.33 EPAG P Early lymphoid activation gene 300347 A, REa
23.435 4 10 15 Xq21-q25 PARK12 P Parkinson disease-12 300557 Fd max lod with DXS1106, DXS8055, DXS1001 {Parkinson disease 12} (2)
23.436 3 24 09 Xq21.1 CYLC1 P Cylicin 1 300768 REc
23.437 5 13 15 Xq21.1 COX7B, LSDMCA2 P Cytochrome c oxidase, subunit VIIb 300885 REc Linear skin defects with multiple congenital anomalies 2, 300887 (3)
23.438 7 11 16 Xq21.1 FAM46D P Family with sequence similarity 46, member D 300976 REc
23.439 10 15 13 Xq21.1 FGF16, MF4 P Fibroblast growth factor 16 300827 REc previously mapped to 8q21.3 Metacarpal 4-5 fusion, 309630 (3)
23.440 8 2 13 Xq21.1 GPR174, GPCR17 P G protein-coupled receptor 174 300903 REc X(Gpr174)
23.441 5 30 17 Xq21.1 HDX, CXorf43 P Highly divergent homeobox 300994 REc
23.442 5 28 13 Xq21.1 P2RY10, P2Y10 P Purinergic receptor P2Y, G protein-coupled, 10 300529 REc
23.443 3 18 08 Xq21.1 POU3F4, DFN3, DFNX2 P POU domain, class 3, transcription factor 4 300039 Fd, D, H, REn Deafness, X-linked 2, 304400 (3) X(Pou3f4)
23.444 10 29 11 Xq21.1 ZNF711, ZNF6, CMPX1, MRX97 P Zinc finger protein-711 314990 REa, A Mental retardation, X-linked 97, 300803 (3)
23.445 7 28 15 Xq21.1 APOOL, FAM121A, Cxorf33 P Apolipoprotein O-like 300955 REc
23.446 5 1 02 Xq21.2 CHM, TCD C Rab escort protein 1 300390 Fd, LD, D, A, Ch, X/A Choroideremia, 303100 (3) X(rep1)
23.447 2 26 09 Xq21.3 AD16 P Alzheimer disease 16 300756 Fd associated with rs5984894 {Alzheimer disease 16} (2)
23.448 5 26 13 Xq21.2 DACH2 P Dachshund, Drosophila, homolog of, 2 300608 REc X(Dach2)
23.449 5 28 13 Xq21.31 KLHL4 P Kelch-like 4 300348 REc
23.450 4 30 03 Xq21.31 PABPC5, PABP5 P Polyadenylate-binding protein, cytoplasmic, 5 300407 REa
23.451 7 26 02 Xq21.31 PCDH11X, PCDH11, PCDHX P Protocadherin 11, X-linked 300246 REc
23.452 12 24 08 Xq22.1 BTK, AGMX1, IMD1, XLA, AT C Bruton agammaglobulinemia tyrosine kinase 300300 H, Fd, A Agammaglobulinemia, X-linked 1, 300755 (3); Agammaglobulinemia and isolated hormone deficiency, 307200 (3) X(xid, Btp)
23.453 6 29 99 Xq21.32 NAP1L3 P Nucleosome assembly protein 1-like 3 300117 Psh
23.454 6 29 99 Xp22.2 TMSB4X, TMSB4, TB4X, PTMB4 P Thymosin, beta-4, X chromosome 300159 Psh X(Tmsb4x)
23.455 8 27 01 Xq22.1 NXF3 P Nuclear RNA export factor 3 300316 REc
23.456 3 23 09 Xq21.33 RPA4 P Replication protein A4 300767 REc
23.457 7 31 08 Xq22.1 SYTL4 P Synaptotagmin-like 4 300723 REc
23.458 3 14 06 Xq22.1 ARMCX1, ALEX1 P Armadillo repeat containing, X-linked 1 300362 R
23.459 3 14 06 Xq22.1 ARMCX2, ALEX2, KIAA0512 C Armadillo repeat containing, X-linked 2 300363 R
23.460 3 14 06 Xq22.1 ARMCX3, ALEX3 P Armadillo repeat containing, X-linked 3 300364 REc
23.461 10 28 11 Xq21.33-q23 MRXSCS P Mental retardation, X-linked, syndromic, Chudley-Schwartz type 300861 Fd max lod at DXS1120 Mental retardation, X-linked, syndromic, Chudley-Schwartz type, (2)
23.462 10 16 14 Xq22.1 SRPX2, SRPUL, RESDX P SUSHI repeat-containing protein, X-linked, 2 300642 A, REc mutation identified in 1 RESDX family ?Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (3)
23.463 5 28 13 Xq22.3 ATG4A, APG4A, AUTL2 P Autophagy 4, S. cerevisiae, homolog of, A 300663 REc
23.464 2 6 08 Xq22.2 BEX2 P Brain-expressed X-linked gene 2 300691 R
23.465 5 9 17 Xq21.33 DIAPH2, DIA, POF2A C Diaphanous, Drosophila, homolog of, 2 300108 REc, A mutation identified in 1 POF2A family ?Premature ovarian failure 2A, 300511 (3)
23.466 7 8 96 Xq22.1 DRP2 P Dystrophin-related protein 2 300052 REc
23.467 10 21 96 Xq22.1 FSHPRH1, LRPR1 P FSH primary response, rat, homolog of, 1 300065 REn, REc
23.468 3 10 02 Xq22.1 GPRASP1, GASP, KIAA0443 P G protein-coupled receptor-associated sorting protein 1 300417 REc conflicting assignment to chr.9
23.469 3 28 07 Xq22.1 GLA C Galactosidase, alpha 300644 S, R, A, Fd Fabry disease, 301500 (3); Fabry disease, cardiac variant, 301500 (3) X(Ags)
23.470 5 29 98 Xq22-q23 GUCY2F, GUC2F P Guanylate cyclase 2F 300041 A X(Gucy2f)
23.471 6 16 17 Xq22.1 HNRNPH2, NRPH2, MRXSB P Heterogeneous nuclear ribonucleoprotein H2 300610 A, REc second signal at 6q25.3-q26, pseudogene? Mental retardation, X-linked, syndromic, Bain type, 300986 (3)
23.472 11 4 00 Xq22.3 IL1RAPL2 P Interleukin 1 receptor accessory protein-like 2 300277 REc
23.473 6 9 08 Xq23 KKLC1, CXorf61 P Kita-Kyushu lung cancer antigen 1 300625 REc
23.474 8 12 14 Xq22.3 MID2, MRX101 P Midline 2 300204 REc mutation identified in 1 MRX101 family ?Mental retardation, X-linked 101, 300928 (3) X(Mid2)
23.475 6 6 03 Xq22.2 MORFL2, MRGX, KIAA0026 P Mortality factor 4-like 2 300409 A
23.476 01 03 00 Xq22.1 NOX1, MOX1, NOH1 P NADPH oxidase 1 300225 REc
23.477 2 24 10 Xq22.1 PCDH19, KIAA1313, EFMR, EIEE9 C Protocadherin 19 300460 R, REc, Fd Epileptic encephalopathy, early infantile, 9, 300088 (3)
23.478 1 29 13 Xq22.2 PLP1, PMD, HLD1, SPG2 C Proteolipid protein 1 300401 REa, A, Ch, R, Fd Pelizaeus-Merzbacher disease, 312080 (3); Spastic paraplegia 2, X-linked, 312920 (3) X(Plp(jp))
23.479 4 25 08 Xq22.1 TNMD, TEM, CHM1L P Tenomodulin 300459 REc
23.480 1 20 06 Xq22.1 TSPAN6, TM4SF6 P Tetraspanin 6 300191 A
23.481 4 21 16 Xq22.1 TIMM8A, DFN1, DDP, MTS, DDP1 C Translocase of inner mitochondrial membrane 8, yeast, homolog of, A 300356 Fd, REn Mohr-Tranebjaerg syndrome, 304700 (3)
23.482 7 8 89 Xq22.3 MYCL2 P MYCL-related processed gene 310310 REa pseudogene on Xq27.3
23.483 4 26 06 Xq24 MCTS1, MCT1 P Malignant T-cell amplified sequence 1 300587 A
23.484 5 22 03 Xq24 PGRMC1 P Progesterone receptor membrane component 1 300435 Psh
23.485 2 26 10 Xq22.3 PRPS1, CMTX5, DFNX1, DFN2 C Phosphoribosyl pyrophosphate synthetase-1 311850 S, R, REa, A, Fd Gout, PRPS-related, 300661 (3); Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3); Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3); Arts syndrome, 301835 (3); Deafness, X-linked 1, 304500 (3)
23.486 7 11 14 Xq22-q28 AI1E2, AIH3 L Amelogenesis imperfecta, hypomaturation or hypoplastic type, X-linked 2 301201 Fd ?Amelogenesis imperfecta, type IE, X-linked 2 (2)
23.487 2 11 11 Xq11.1 ARHGEF9, PEM2, KIAA0424, EIEE8 C Rho guanine nucleotide exchange factor 9 300429 REc Epileptic encephalopathy, early infantile, 8, 300607 (3)
23.488 2 6 08 Xq22.1 BEX5, NGFRAP1L1 P BEX family member 5 300693 REc
23.489 4 29 14 Xq22.1 BHLHB9, P60TRP, KIAA1701 P Basic helix-loop-helix domain-containing protein, class B, 9 300921 REc
23.490 11 1 13 Xq22.1 CSTF64 P Cleavage stimulation factor, 3-prime pre-RNA, subunit 2, 64kD 300907 REc
23.491 8 17 16 Xq22.1 GPRASP2, GASP2 C G protein-coupled receptor-associated sorting protein 2 300969 REc
23.492 11 19 13 Xq22.1 NXF5 P Nuclear RNA export factor 5 300319 REc
23.493 6 26 13 Xq22.1 RPL36A, RPL44 P Ribosomal protein L36A 300902 REc, R
23.494 4 04 00 Xq22.2 TCEAL1, P21, SIIR P Transcription elongation factor A-like 1 300237 A, REc
23.495 11 25 14 Xq22.1 TMSB15A, TMSB15, TMSNB P Thymosin, beta-15A 300939 REc
23.496 12 17 07 Xq22.1 XKRX, XPLAC, XKR2, XRG2 P X Kell blood group precursor-related, X-linked 300684 REc
23.497 11 16 17 Xq22.1 ZMAT1, KIAA1789 P Zinc finger, matrin-type 1 301007 REc
23.498 2 6 08 Xq22.1 BEX1 C Brain-expressed X-linked gene 1 300690 REc, H X(Bex1)
23.499 5 10 04 Xq22.2 ESX1L, ESXR1 P ESX1-like protein 300154 REc, H X(Esx1)
23.500 8 27 01 Xq22.1 NXF4 P Nuclear RNA export factor 4 300318 REc
23.501 12 8 00 Xq22.2 RAB9B, RAB9L P RAS-associated protein RAB9B 300285 R
23.502 5 5 09 Xq22.2 TCEAL7 P Transcription elongation factor A-like 7 300771 REc
23.503 5 26 13 Xq22.3 VSIG1, GPA34 P V-set and immunoglobulin domains-containing protein 1 300620 REc
23.504 4 10 12 Xq23 CHRDL1, VOPT, MGC1 C Chordin-like 1 300350 REc, Fd Megalocornea 1, X-linked 309300 (3)
23.505 10 10 01 Xq22.2 NGFRAP1, BEX3, NADE, DXS6984E P Nerve growth factor receptor (TNFRSF16) associated protein 1 300361 REc
23.506 2 6 08 Xq22.1 BEX4 P BEX family member 4 300692 REc X(Bex4)
23.507 5 26 13 Xq22.2 H2BFWT P H2B histone family, member W, testis-specific 300507 REc
23.508 10 12 14 Xq22.1 RAB40AL, RLGP, MRXSMP P Ras-associated protein, RAB40A-like 300405 REc
23.509 12 30 14 Xq22.2 SLC25A53 P Solute carrier family 25, member 53 300941 REc
23.510 9 16 16 Xq22.3 TBG, TBGQTL C Thyroxine-binding globulin 314200 REa, A [Thyroxine-binding globulin QTL], 300932 (3)
23.511 2 20 07 Xq22.3 TSC22D3, DSIPI, GILZ P TSC22 domain family, member 3 300506 A
23.512 1 23 18 Xq22.2 TMSB15B P Thymosin, beta-15B 301011 REc opposite strand relative to TMSB15A
23.513 4 26 01 Xq22.2-q26 MRX53 P Mental retardation, X-linked-53 300324 Fd Mental retardation, X-linked 53 (2)
23.514 9 18 08 Xq23 ACSL4, FACL4, ACS4, MRX63 C Acyl-CoA synthetase long-chain family member 4 300157 A, REc, Fd Mental retardation, X-linked 63, 300387 (3)
23.515 7 16 10 Xq22.3 AMMEC, DELXq22.3, CXDELq22.3 P Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex) 300194 Ch contiguous gene deletion syndrome Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (4)
23.516 1 27 17 Xq23 AMMECR1, MFHIEN P Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis chromosomal region gene 1 300195 Ch Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 (3)
23.517 4 4 00 Xq22.3 COL4A5, ATS, ASLN C Collagen IV, alpha-5 polypeptide 303630 REa, A, Fd diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6 Alport syndrome, 301050 (3) X(Col4a5)
23.518 2 2 14 Xq22.3 COL4A6, DELXq22.3, CXDELq22.3, DFNX6 C Collagen IV, alpha-6 polypeptide 303631 REn, A mutation identified in 1 DFNX6 family ?Deafness, X-linked 6, 300914 (3)
23.519 3 14 06 Xq22.3 FGS5 P FG syndrome 5 300581 Ch FG syndrome 5 (2)
23.520 10 11 17 Xq22.3 FRMPD3, KIAA1817 C FERM- and PDZ domain-containing protein 3 301005 Psh, REc
23.521 8 7 13 Xq22.3 IRS4 P Insulin receptor substrate 4 300904 REc
23.522 4 17 01 Xq23 KCNE1L P Potassium voltage-gated channel, Isk-related family, member 1-like 300328 REc
23.523 4 21 16 Xq22.3 MORC4, ZCW4, ZCWCC2 P MORC family CW-type zinc finger protein 4 300970 REc
23.524 8 17 09 Xq22.3 NRK, NESK P NIK-related kinase 300791 REc, H X(Nrk)
23.525 2 9 17 Xq22.3 PIH1D3, CILD36 P PIH1 domain-containing protein 3 300933 REc Ciliary dyskinesia, primary, 36, X-linked, 300991 (3)
23.526 9 24 12 Xq22.3 PSMD10, p28 P Proteasome 26S subunit, non-ATPase, 10 300880 REc
23.527 3 22 06 Xq22.3 RIPPLY1 P Ripply1, zebrafish, homolog of 300575 R, REc
23.528 5 15 11 Xq22.3 RNF128, GRAIL C Ring finger protein 128 300439 R, REc
23.529 5 28 13 Xq22.3 CLDN2 P Claudin 2 300520 REc
23.530 8 25 98 Xq23 DCX, DBCN, LISX C Doublecortin 300121 REc, Fd, X/A Lissencephaly, X-linked, 300067 (3); Subcortical laminal heterotopia, X-linked, 300067 (3) X(Dcx)
23.531 1 24 14 Xq23 AGTR2 C Angiotensin receptor 2 300034 REa, A X(Agtr2)
23.532 11 29 16 Xq23 ALG13, GLT28D1, CDG1S, EIEE36 P Alg13, S. cerevisiae, homolog of 300776 REc mutation identified in 1 CDG1S male patient Epileptic encephalopathy, early infantile, 36, 300884 (3); ?Congenital disorder of glycosylation, type Is, 300884 (3)
23.533 1 7 13 Xq24 C1GALT1C1, COSMC, C1GALT2, TNPS P C1GALT1-specific chaperone 1 300611 REc Tn polyagglutination syndrome, somatic, 300622 (3)
23.534 5 26 13 Xq23 CAPN6 P Calpain 6 300146 R
23.535 1 24 11 Xq24 CUL4B, MRXSC, MRXHF2, SFM2, MRXS15 C Cullin-4B 300304 REc, F Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)
23.536 7 11 17 Xq23 DANT1 P DXZ4-associated noncoding transcript 1, proximal 301001 REc, H X(Dant1)
23.537 8 31 17 Xq23 DANT2 P DXZ4-associated noncoding transcript 2, distal 301004 REc
23.538 5 15 08 Xq23 IHPS4 P Pyloric stenosis, infantile hypertrophic, 4 300711 Fd max lod at rs3027802 Pyloric stenosis, infantile hypertrophic, 4 (2)
23.539 12 28 08 Xq23 LHFPL1 P LHFP-like protein 1 300566 REc
23.540 5 28 13 Xq23 LUZP4 P Leucine zipper protein 4 300616 REc
23.541 3 23 09 Xq23 MIR448, MIRN448 P Micro RNA 448 300686 R
23.542 8 27 01 Xq23 NXT2 P NTF2-related export protein 2 300320 REc
23.543 5 23 11 Xq23 PAK3, MRX30, MRX47 C p21-activated kinase-3 300142 Fd, REc Mental retardation, X-linked 30/47, 300558 (3)
23.544 11 11 13 Xq23 PLS3, BMND18 P Plastin 3 300131 Psh, REc Bone mineral density QTL18, osteoporosis, 300910 (3)
23.545 12 22 15 Xq23 RGAG1, MAR9, KIAA1318 P Retrotransposon GAG domain-containing protein 1 300965 REc, H X(Rgag1)
23.546 5 7 01 Xq23 TRPC5, TRP5 P Transient receptor potential channel 5 300334 REc
23.547 6 26 13 Xq23 XACT P Active X chromosome-coating transcript, noncoding 300901 REc
23.548 9 2 08 Xq24 ZBTB33, KAISO P Zinc finger- and BTB domain-containing protein 33 300329 REc X(Kaiso)
23.549 1 27 04 Xq23-q24 MRX23 P Mental retardation, X-linked-23 300046 Fd other MRX in same region MRX27, MRX30, MRX35, MRX47, MRX80 Mental retardation, X-linked 23 (2)
23.550 10 8 08 Xq23 SLC6A14, OBX, BMIQ11 C Solute carrier family 6 (neurotransmitter transporter), member 14 300444 REc, Fd {Obesity, susceptibility to, BMIQ11}, 300306 (3)
23.551 12 4 03 Xq23-q26 CHDS3 P Coronary heart disease, susceptibility to, 3 300464 Fd {Coronary heart disease, susceptibility to, 3} (2)
23.552 10 28 10 Xq23-q27.2 MYP13 P Myopia 13 300613 Fd between DXS1210 and DXS1227 Myopia 13 (2)
23.553 3 7 05 Xq24 AKAP14, AKAP28 P A-kinase anchor protein 14 300462 REc
23.554 7 20 09 Xq24 CT47A1 P Cancer/testis antigen family 45, member A1 300780 REc
23.555 7 20 09 Xq24 CT47A2 P Cancer/testis antigen family 47, member A2 300781 REc
23.556 7 20 09 Xq24 CT47A3 P Cancer/testis antigen family 47, member A3 300782 REc
23.557 7 20 09 Xq24 CT47A4 P Cancer/testis antigen family 47, member A4 300783 REc
23.558 7 20 09 Xq24 CT47A5 P Cancer/testis antigen family 47, member A5 300784 REc
23.559 7 20 09 Xq24 CT47A6 P Cancer/testis antigen family 47, member A6 300785 REc
23.560 7 20 09 Xq24 CT47A7 P Cancer/testis antigen family 47, member A7 300786 REc
23.561 7 20 09 Xq24 CT47A8 P Cancer/testis antigen family 47, member A8 300787 REc
23.562 7 20 09 Xq24 CT47A9 P Cancer/testis antigen family 47, member A9 300788 REc
23.563 7 20 09 Xq24 CT47A10 P Cancer/testis antigen family 47, member A10 300789 REc
23.564 5 18 09 Xq24 CT47A11, LOC255313 P Cancer/testis antigen family 47, member A11 300592 REc
23.565 7 20 09 Xq24 CT47B1, CT47A13 P Cancer/testis antigen family 47, member B1 300790 REc
23.566 5 26 13 Xq24 DOCK11, ACG, ZIZ2 P Dedicator of cytokinesis 11 300681 REc
23.567 5 18 95 Xq23 HTR2C C 5-hydroxytryptamine (serotonin) receptor-2C 312861 REa, A, H, Fd formerly HTR1C X(Htr2c)
23.568 8 25 98 Xq23 IL13RA2 P Interleukin-13 receptor, alpha-2 300130 A
23.569 6 12 17 Xq24 KIAA1210 P Kiaa1210 gene 300995 REc, H X(Kiaa1210)
23.570 5 26 13 Xq24 KLHL13, KIAA1309 P Kelch-like 13 300655 REc
23.571 7 28 11 Xq24 LAMP2, LAMPB, LGP110 C Lysosome-associated membrane protein-2 309060 A, D Danon disease, 300257 (3) X(Lamp2)
23.572 3 25 15 Xq24 MRX88 P Mental retardation, X-linked 88 300852 Ch Mental retardation, X-linked 88 (2)
23.573 9 27 01 Xq24 MRSS P Mental retardation, X-linked, with short stature 300360 Fd Mental retardation, X-linked, with short stature (2)
23.574 11 13 07 Xq24 NDUFA1, MWFE P NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kD 300078 A Mitochondrial complex I deficiency, 252010 (3)
23.575 7 13 09 Xq24 NKAP P NFKB-activating protein 300766 R, REc
23.576 7 20 09 Xq24 NKRF, NRF P NFKB-repressing factor 300440 R, REc
23.577 5 4 12 Xq24 RHOXF1, OTEX, PEPP1 P RHOX homeobox family, member 1 300446 REc X(Pem)
23.578 5 4 12 Xq24 RHOXF2, PEPP2 P RHOX homeobox family, member 2 300447 REc X(Pem)
23.579 6 30 16 Xq24 RHOXF1P1 P RHOX homeobox family member 1, pseudogene 1 300973 REc
23.580 6 18 15 Xq24 RNF113A, ZNF183, TTD5 C RING finger protein 113A 300951 REc mutation identified in 1 TTD5 family ?Trichothiodystrophy 5, nonphotosensitive, 300953 (3)
23.581 5 29 13 Xq24 RPL39 C Ribosomal protein L39 300899 REc, Psh, R
23.582 5 12 00 Xq26.1 SLC25A14, BMCP1 P Solute carrier family 25 (mitochondrial carrier), member 14 300242 REc X(Slc25a14)
23.583 3 12 07 Xq24 SLC25A43 P Solute carrier family 25, member 43 300641 REc X(Slc25a43)
23.584 9 1 16 Xq24 UBE2A, RAD6A, MRXSN, MRXS30 P Ubiquitin-conjugating enzyme E2A (RAD6 homolog) 312180 A, REa Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)
23.585 3 5 08 Xq24 ZCCHC12, SIZN1 P Zinc finger CCHC domain-containing protein 12 300701 REc
23.586 2 10 05 Xq24-q25 MRX82 P Mental retardation, X-linked 82 300518 Fd between DXS6805 and DXS7346 Mental retardation, X-linked 82 (2)
23.587 10 4 02 Xq24-q25 RRDX P Radial ray deficiency 300378 Fd Radial ray deficiency (2)
23.588 11 15 08 Xq24-q25 SPG34 P Spastic paraplegia 34, X-linked 300750 Fd max lod at DXS8057 Spastic paraplegia 34, X-linked (2)
23.589 2 17 09 Xq24-q25 STQTL6 P Stature quantitative trait locus 6 300591 Fd max lod at DXS8067 {Stature QTL 6} (2)
23.590 4 20 11 Xq24-q26 ADFN, ALDS P Albinism-deafness syndrome 300700 Fd ~8cM proximal to F9 Albinism-deafness syndrome (2)
23.591 3 6 00 Xq24 SLC25A5, ANT2, T3 C Solute carrier family 25 (mitochondrial carrier), member 5 (adenine nucleotide translocator-2, fibroblast) 300150 REa
23.592 10 17 95 Xq24-q27 BZX P Bazex syndrome 301845 Fd Bazex syndrome (2)
23.593 2 23 08 Xq24 SEPT6, SEP2, KIAA0128 C Septin 6 300683 REc, Psh
23.594 5 24 00 Xq24-q27.1 PTOS2, PTOSX P Ptosis, hereditary congenital 2 300245 Fd Ptosis, hereditary congenital 2 (2)
23.595 9 11 02 Xq24-qter CND P Corneal dermoids 304730 Fd Dermoids of cornea (2)
23.596 7 18 06 Xq25 ACTRT1, ARPT1 P Actin-related protein T1 300487 REc
23.597 1 22 08 Xq26.1 BCORL1 P BCL6 corepressor-like 1 300688 REc
23.598 4 17 07 Xq26.1 ENOX2 P ECTO-NOX disulfide-thiol exchanger 2 300282 R, REc
23.599 9 16 16 Xq25 DUPXq25 C Xq25 duplication syndrome 300979 Ch Xq25 duplication syndrome (4)
23.600 8 1 16 Xq24 GLUD2 C Glutamate dehydrogenase-2 300144 A, REn {Parkinson disease, age of onset, modifier}, 168600 (3)
23.601 1 14 13 Xq26.1 IGSF1, IGDC1, CHTE P Immunoglobulin superfamily, member 1 300137 REn Hypothyroidism, central, and testicular enlargement, 300888 (3)
23.602 6 7 04 Xq25 SH2D1A, LYP, IMD5, XLP, XLPD1 C SH2 domain protein 1A 300490 Fd, D 1cM from DXS42; no recombination with DXS37 Lymphoproliferative syndrome, X-linked, 1, 308240 (3) X(Sh2d1a)
23.603 11 22 10 Xq25 STAG2, SA2 P Stromal antigen 2 300826 REc
23.604 2 5 15 Xq25 TENM1, ODZ1, TNM1 P Teneurin transmembrane protein 1 300588 REc
23.605 9 8 15 Xq25 THOC2, THO2, MRX12, MRX35 P THO complex 2 (Tho2, yeast, homolog of) 300395 R, REc Mental retardation, X-linked 12/35, 300957 (3)
23.606 7 16 09 Xq25 XECD P Corneal dystrophy, endothelial, X-linked 300779 Fd between DXS8057 and DXS1047 Corneal dystrophy, endothelial, X-linked (2)
23.607 1 7 11 Xq25 XIAP, BIRC4, API3, XLP2 C Inhibitor of apoptosis, X-linked 300079 A Lymphoproliferative syndrome, X-linked, 2, 300635 (3) X(Api3)
23.608 11 22 13 Xq26.1 XPNPEP2, AEACEI C X-prolyl aminopeptidase 2 (aminopeptidase P) 300145 REa, A {Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3)
23.609 4 1 08 Xq25 GRIA3, GLUR3, MRX94 C Glutamate receptor, ionotropic, AMPA 3 305915 Psh, A, Ch Mental retardation, X-linked 94, 300699 (3) X(Glur3)
23.610 3 29 99 Xq25-q26 SXI2 P X inactivation, familial skewed, 2 300179 Fd X inactivation, familial skewed, 2 (2)
23.611 10 11 07 Xq24 UPF3B, RENT3B, MRXS14 P UPF3 regulator of nonsense transcripts, yeast, homolog of, B 300298 REc Mental retardation, X-linked, syndromic 14, 300676 (3)
23.612 8 25 98 Xq25-q26.1 THAS, TAS P Thoracoabdominal syndrome 313850 Fd Thoracoabdominal syndrome (2)
23.613 3 1 01 Xq26.1 APLN P Apelin 300297 REc
23.614 6 5 09 Xq25-q27 LKMCD P Leukoencephalopathy with metaphyseal chondrodysplasia 300660 Fd between DXS8093 and DXS1232 Leukoencephalopathy with metaphyseal chondrodysplasia (2)
23.615 4 23 08 Xq25-q27.1 SCAX5 P Spinocerebellar ataxia, X-linked 5 300703 Fd between DXS1047 and DXS1227 Spinocerebellar ataxia, X-linked 5 (2)
23.616 5 15 03 Xq26.3 ARHGEF6, MRX46, COOL2 C Rho guanine nucleotide exchange factor-6 300267 Ch, Fd Mental retardation, X-linked 46, 300436 (3)
23.617 4 16 03 Xq26 CMTX3 P Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 302802 Fd between DXS984 and DXS8106 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 (2)
23.618 10 28 99 Xq26.3 CXX1 P CAAX box protein 1 300213 REc
23.619 7 13 09 Xq26.1 ELF4, MEF P E74-like factor 4 300775 A
23.620 10 4 02 Xq26.2 GPC3, SDYS, SGBS1 C Glypican 3 300037 A Simpson-Golabi-Behmel syndrome, type 1, 312870 (3); Wilms tumor, somatic, 194070 (3)
23.621 2 5 99 Xq26.2 GPC4 P Glypican 4 300168 A centromeric to GPC3
23.622 7 14 93 Xq26 GUST P Gustavson mental retardation syndrome (with microcephaly, optic atrophy, deafness) 309555 Fd Gustavson syndrome (2)
23.623 2 7 01 Xq27.2 MAGEC1 P Melanoma antigen, family C, 1 300223 R, A
23.624 7 11 11 Xq26.2 MASK, MST4 P MST3- and SOK1-related kinase 300547 A, REc
23.625 3 14 03 Xq26.2 MBNL3, MBXL P Muscleblind-like protein 3 300413 REn
23.626 1 23 02 Xq26 MRX42 P Mental retardation, X-linked nonspecific, 42 300372 Fd ?pericentromeric region Mental retardation, X-linked 42 (2)
23.627 1 23 01 Xq26.3 PLAC1 P Placenta-specific gene 1 300296 REc X(Plac1)
23.628 11 25 15 Xq26.3 RBMX, MRXS11 C RNA-binding motif protein, X chromosome 300199 REc, Fd mutation identified in 1 MRXS11 family ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3) X(Rbmx)
23.629 10 16 94 Xq26 SHFM2, SHFD2 P Split hand/foot malformation, type (ectrodactyly) 2 313350 Fd Split hand/foot malformation 2 (2)
23.630 4 8 02 Xq26.3 TNFSF5, CD40LG, HIGM1, IGM C Tumor necrosis factor ligand superfamily, member 5 300386 Fd, A, Psh Between DSX144E and DSX300 Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) X(CD40l)
23.631 2 22 10 Xq26.3 ZNF75D, ZNF75 P Zinc finger protein-75D 314997 REa, A 1Mb distal to HPRT
23.632 6 2 08 Xq26-q27 CFSS L Craniofacioskeletal syndrome 300712 Fd ?Craniofacioskeletal syndrome (2)
23.633 6 8 89 Xq26-q27 HPT, HPTX, HYPX C Hypoparathyroidism 307700 Fd ?mutations in SOX3 Hypoparathyroidism, X-linked (2)
23.634 11 2 98 Xq26-q27 RP24 P Retinitis pigmentosa-24 300155 Fd Retinitis pigmentosa 24 (2)
23.635 6 29 99 Xq26.3 BRS3 P Bombesin-like receptor 3 300107 Psh
23.636 9 8 17 Xq26-qter INDX P Immunoneurologic syndrome X-linked, of Woods, Black, and Norbury 300076 Fd Woods-Black-Norbury syndrome (2)
23.637 12 1 15 Xq26.1 AIFM1, PDCD8, AIF, COXPD6, COWCK, CMTX4, DFNX5 C Apoptosis-inducing factor, mitochondrion-associated, 1 300169 REc, Fd Combined oxidative phosphorylation deficiency 6, 300816 (3); Cowchock syndrome, 310490 (3); Deafness, X-linked 5, 300614 (3)
23.638 11 24 14 Xq26.1 ARHGAP36 P Rho GTPase-activating protein 36 300937 REc
23.639 5 26 13 Xq26.1 GPR119, GPCR2 P G protein-coupled receptor 119 300513 REc X(Gpr119)
23.640 1 21 09 Xq26.1 OCRL, LOCR, OCRL1, NPHL2 C Phosphatidylinositol polyphosphate 5-phosphatase (OCRL gene) 300535 X/A, Fd Lowe syndrome, 309000 (3); Dent disease 2, 300555 (3)
23.641 5 28 13 Xq26.1 SASH3, HACS2, CXorf9, SLY P SAM and SH3 domain containing 3 300441 REc
23.642 8 19 98 Xq25-q26 SMARCA1, SNF2L1 P SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 300012 RE
23.643 5 28 13 Xq26.1 UTP14A P Utp14, S. cerevisiae, homolog of, A 300508 REc X(Utp14a)
23.644 12 2 09 Xq26.1 ZDHHC9, DHHC9, MRXSZ C Zinc finger DHHC domain-containing protein 9 300646 R, REc Mental retardation, X-linked syndromic, Raymond type, 300799 (3)
23.645 3 24 06 Xq26.3 VGLL1, VGL1, TDU P Vestigial-like 1 300583 REc
23.646 11 19 11 Xq26.2 FRMD7, NYS1, XIPAN P FERM domain-containing 7 300628 REc Nystagmus 1, congenital, X-linked, 310700 (3); Nystagmus, infantile periodic alternating, X-linked, 310700 (3)
23.647 9 26 17 Xq26.2-q26.3 HPRT1, HPRT C Hypoxanthine phosphoribosyltransferase 1 308000 S, M, C, R, REa, Fd Lesch-Nyhan syndrome, 300322 (3); HPRT-related gout, 300323 (3) X(Hprt)
23.648 6 30 05 Xq26.2 HS6ST2 P Heparan sulfate 6-O-sulfotransferase 2 300545 R, REc
23.649 3 23 09 Xq26.2 MIR19B2, MIRN19B2 P Micro RNA 19B2 300722 REc
23.650 4 13 15 Xq26.2 MIR20B P Micro RNA 20B 300950 REc
23.651 9 9 09 Xq26.2 MIR106A, MIRN106A P Micro RNA 106A 300792 REc
23.652 5 11 09 Xq26.2 TFDP3, HCA661, CT30, DP4 P Transcription factor DP family, member 3 300772 REc
23.653 4 25 05 Xq26.2 USP26 C Ubiquitin-specific protease 26 300309 R, REc
23.654 5 4 12 Xq26.3 ZIC3, HTX1, HTX, VACTERLX C Zic family, member 3 300265 Fd, REc Heterotaxy, visceral, 1, X-linked 306955 (3); Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3); VACTERL association, X-linked, 314390 (3)
23.655 4 30 09 Xq26.3 CT45A1, CT45 P Cancer/testis antigen family 45, member A1 300648 REc
23.656 9 2 09 Xq26.3 CT45A2, CT45.2 P Cancer/testis antigen family 45, member A2 300793 REn
23.657 9 2 09 Xq26.3 CT45A3, CT45.3 P Cancer/testis antigen family 45, member A3 300794 REn
23.658 9 2 09 Xq26.3 CT45A4, CT45.4 P Cancer/testis antigen family 45, member A4 300795 REn
23.659 9 2 09 Xq26.3 CT45A5, CT45.5 P Cancer/testis antigen family 45, member A5 300796 REn
23.660 9 2 09 Xq26.3 CT45A6, CT45.6 P Cancer/testis antigen family 45, member A6 300797 REn
23.661 2 4 15 Xq26.3 CXDUPq26.3, DUPXq26.3, XLAG P Chromosome Xq26.3 duplication syndrome 300942 Ch Chromosome Xq26.3 duplication syndrome (4)
23.662 5 28 13 Xq26.3 MOSPD1 P Motile sperm domain-containing protein 1 300674 REc X(Mospd1)
23.663 6 16 99 Xq26.2 PHF6, BFLS C PHD finger protein 6 300414 Fd, REc Borjeson-Forssman-Lehmann syndrome, 301900 (3)
23.664 6 16 99 Xq26.3-q27.1 FGF13, FGF2 C Fibroblast growth factor-13 300070 REa, H, REc, Ch X(Fhf2)
23.665 9 26 17 Xq26.3 GPR101, PAGH2, PITA2 P G protein-coupled receptor 101 300393 REc Pituitary adenoma 2, GH-secreting, 300943 (3)
23.666 5 28 13 Xq26.3 HTATSF1, TATSF1 P HIV-1 TAT stimulatory factor 1 300346 REc, R
23.667 9 20 14 Xq26.3 MAP7D3, MDP3 P MAP7 domain-containing protein 3 300930 REc
23.668 3 23 09 Xq26.3 MIR424, MIRN424, MIR322 P Micro RNA 424 300682 REc
23.669 12 19 11 Xq26.3 MIR503 P Micro RNA 503 300865 REc
23.670 5 6 08 Xq26.3 SLC9A6, NHE6 C Solute carrier family 9 (sodium/hydrogen exchanger), member 6 300231 R Mental retardation, X-linked syndromic, Christianson type, 300243 (3)
23.671 6 2 08 Xq27.1 SOX3, MRGH C SRY (sex determining region Y)-box 3 313430 REa, H, Fd P mutant in BFLS Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3); Panhypopituitarism, X-linked, 312000 (3) X(Sox3)
23.672 3 24 11 Xq26.3 SRXX3 P 46XX sex reversal 3 300833 Ch due to deletion/duplication/rearrangement upstream of SOX3 46XX sex reversal 3 (4)
23.673 11 30 06 Xq26.3 ZNF449, ZSCAN19 P Zinc finger protein 449 300627 REc
23.674 4 30 01 Xq27.2 SPANXC, CTP11 P Sperm protein associated with the nucleus, X chromosome, family member C 300330 REa, REc
23.675 5 26 13 Xq27.1 ATP11C, ATPIQ, ATPIG P ATPase, class VI, type 11C 300516 REc
23.676 5 18 05 Xq27 BMND4 P Bone mineral density QTL 4 300536 Fd [Bone mineral density QTL 4] (2)
23.677 5 7 01 Xq28 CNGA2, CNG2, OCNC1 P Cyclic nucleotide-gated channel, alpha-2 300338 REc
23.678 8 5 97 Xq27 COD2 P Cone dystrophy-2, X-linked 300085 Fd Cone dystrophy, progressive X-linked, 2 (2)
23.679 6 19 15 Xq28 CXorf40A, EOLA1 P Chromosome X open reading frame 40A 300954 REc
23.680 4 27 12 Xq27.3 FMR1AS1, ASFMR1 P FMR1 antisense RNA 1 300805 REc
23.681 8 27 02 Xq27.1 LDOC1 P Leucine zipper downregulated in cancer 1 300402 A
23.682 12 30 03 Xq27.2 MAGEC3 P Melanoma antigen, family C, 3 300469 REc
23.683 3 19 09 Xq27.2 MAGEC2, MAGEE1, CT10, HCA587 C Melanoma antigen, family C, 2 300468 REa, A, R
23.684 1 25 91 Xq27.1 MCF2, DBL C Oncogene MCF2 (oncogene DBL) 311030 REa, A, RE, D ~60kb telomeric to F9; 5' replacement by chr.15 segment X(Mcf2)
23.685 10 11 17 Xq27.3 SLITRK2, KIAA1854, CXorf1, CXorf2 C SLIT- and NTRK-like family, member 2 300561 REc, H X(Slitrk2)
23.686 12 28 08 Xq27.3 SLITRK4 C SLIT- and NTRK-like family, member 4 300562 REc, H X(Slitrk4)
23.687 5 26 13 Xq27.3 SPANXN1 P SPANX family, member N1 300664 REc X(Spanxn)
23.688 5 28 13 Xq27.3 SPANXN2 P SPANX family, member N2 300665 REc
23.689 5 26 13 Xq27.3 SPANXN3 P SPANX family, member N3 300666 REc
23.690 5 28 13 Xq27.3 SPANXN4 P SPANX family, member N4 300667 REc
23.691 2 1 00 Xq27 TGCT1 P Testicular germ cell tumor 1 300228 Fd Testicular germ cell tumor (2)
23.692 7 25 06 Xq27-q28 MCOPS4, ANOP1 L Microphthalmia, syndromic 4 301590 F ?Microphthalmia, syndromic 4 (2)
23.693 9 29 98 Xq27-q28 HPCX1 P Prostate cancer, hereditary, X-linked 1 300147 Fd between D3S2390 and bG82i1.0 {Prostate cancer, hereditary, X-linked 1} (2)
23.694 5 28 13 Xq27.1 CIRS7, CDR1AS P Circular RNA sponge for MIR7 300898 REc
23.695 9 21 11 Xq27.1 HTC2, HCG, CGH, CXINSq27.1 P Hypertrichosis, congenital generalized 307150 Fd palindrome-mediated interchromosomal insertion at Xq27.1 Hypertrichosis, congenital generalized (4)
23.696 3 19 01 Xq27.2 SPANXA1, SPANX P Sperm protein associated with the nucleus, X chromosome, family member A1 300305 REa, A
23.697 5 26 13 Xq27.2 SPANXD P SPANX family, member D 300670 REc
23.698 5 26 13 Xq27.2 SPANXE P SPANX family, member E 300671 REc
23.699 7 7 98 Xq27.1 CDR1, CDR62A C Cerebellar degeneration-related protein-1, 34kD 302650 REa, A, Fd between HPRT and F9 X(Cdr)
23.700 3 1 12 Xq27.1 F9, HEMB, THPH8 C Coagulation factor IX (plasma thromboplastic component) 300746 REa, A, Fd, D, X/A, RE distal to HPRT; proximal part of Xq27 Hemophilia B, 306900 (3); {Warfarin sensitivity}, 122700 (3); Thrombophilia, X-linked, due to factor IX defect, 300807 (3); {Deep venous thrombosis, protection against}, 300807 (3) X(Cf9)
23.701 5 26 13 Xq27.1 SPANXB1, SPANXB P SPANX family, member B1 300669 REc
23.702 10 31 17 Xq26.3 FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B, FCMSU C Four-and-a-half LIM domains 1 300163 Psh, A, R mutation identified in 1 FCMSU family Scapuloperoneal myopathy, X-linked dominant, 300695 (3); Myopathy, X-linked, with postural muscle atrophy, 300696 (3); Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 (3); Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 (3); Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3); ?Uruguay faciocardiomusculoskeletal syndrome, 300280 (3)
23.703 4 30 09 Xq27.2-q28 BPP, PMGX, CBPS P Polymicrogyria, bilateral perisylvian 300388 Fd possible genetic heterogeneity Polymicrogyria, bilateral perisylvian (2)
23.704 12 23 05 Xq27.2 SPANXA2 P Sperm protein associated with the nucleus, X chromosome, family member A2 300493 REn
23.705 10 21 04 Xq27.3 DYX9 P Dyslexia, susceptibility to, 9 300509 Fd max lod at DXS8043 {Dyslexia, susceptibility to, 9} (2)
23.706 9 19 11 Xq27.3 FMR1, FRAXA, POF1 C FMR1 gene 309550 Ch, F, Fd, RE 8-8.7Mb from telomere Fragile X syndrome, 300624 (3); Fragile X tremor/ataxia syndrome, 300623 (3); Premature ovarian failure 1, 311360 (3) X(Fmr1)
23.707 9 2 12 Xq27.3 MIR506 P Micro RNA 506 300877 REc
23.708 9 2 12 Xq27.3 MIR508 P Micro RNA 508 300874 REc
23.709 9 2 12 Xq27.3 MIR509-1 P Micro RNA 509-2 300875 REc
23.710 9 2 12 Xq27.3 MIR509-3 P Micro RNA 509-3 300876 REc
23.711 12 19 11 Xq27.3 MIR510 P Micro RNA 510 300866 REc
23.712 3 28 12 Xq27.3-q28 DUPXq27.3q28, CXDUPq27.3q28 P Chromosome Xq27.3-q28 duplication syndrome 300869 Ch Chromosome Xq27.3-q28 duplication syndrome (4)
23.713 8 3 95 Xq27.3-qter EBM P Epidermolysis bullosa, macular type 302000 Fd
23.714 6 21 13 Xq28 ABCD1, ALD, AMN C ATP-binding cassette, subfamily D, member 1 300371 F, Fd, D about 650kb from GCP/RCP Adrenoleukodystrophy, 300100 (3); Adrenomyeloneuropathy, adult, 300100 (3) X(Ald)
23.715 11 11 09 Xq28 AFF2, FMR2, FRAXE, MRX2 P AF4/FMR2 family, member 2 (fragile site, X-linked, E) 300806 Ch, REn Mental retardation, X-linked, FRAXE type, 309548 (3)
23.716 11 1 13 Xq28 BCAP31, BAP31, DXS1357E, DDCH P B-cell receptor-associated protein 31 300398 REa Deafness, dystonia, and cerebral hypomyelination, 300475 (3) X(Bap31)
23.717 4 26 11 Xq28 BED P Bornholm eye disease 300843 Fd linked to F8 Bornholm eye disease (2)
23.718 2 14 13 Xq28 ATP2B3, PMCA3, SCAX1 P ATPase, Ca++ transporting, plasma membrane, 3 300014 REa, A, Fd mutation identified in 1 family ?Spinocerebellar ataxia, X-linked 1, 302500 (3)
23.719 6 26 16 Xq28 ATP6AP1, ATP6IP1, ATP6S1, VATPS1 C ATPase, H+ transporting, lysosomal, accessory protein 1 300197 REc Immunodeficiency 47, 300972 (3)
23.720 10 4 05 Xq28 AVPR2, DIR, DI1, ADHR C Arginine vasopressin receptor-2 300538 Fd, S, REa, Psh Diabetes insipidus, nephrogenic, 304800 (3); Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)
23.721 12 15 16 Xq28 BGN, SEMDX, MRLS C Biglycan 301870 REa, A proximal Xq28 Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3); Meester-Loeys syndrome, 300989 (3) X(Bgn)
23.722 6 26 11 Xq28 BRCC3, BRCC36 P BRCA1/BRCA2-containing complex, subunit 3 300617 Psh
23.723 9 8 11 Xq28 CD99L2, CD99B P CD99 antigen-like 2 300846 REc X(Cd99l2)
23.724 5 18 95 Xq28 CETN2, CALT P Centrin, EF-hand protein, 2 (caltractin) 300006 A
23.725 2 4 15 Xq28 CLIC2, XAP121, MRXS32 P Chloride intracellular channel 2 300138 REc mutation identified in 1 MRXS32 family ?Mental retardation, X-linked, syndromic 32, 300886 (3)
23.726 3 23 15 Xq28 CSAG1, CSAGE P CSAG family, member 1 ` 300944 REc
23.727 5 26 13 Xq28 CTAG1A, LAGE2A P Cancer/testis antigen 1A 300657 REc
23.728 11 5 98 Xq28 CTAG1B, CTAG1 P Cancer/testis antigen 1B 300156 REa, A
23.729 5 28 13 Xq28 CTAG2, LAGE1, CAMEL P Cancer/testis antigen 2 300396 Psh, A
23.730 3 29 10 Xq28 DUPXq28, CXq28 P Chromosome Xq28 duplication syndrome 300815 Ch Chromosome Xq28 duplication syndrome (4)
23.731 9 19 13 Xq28 DKC1, DKCX C Dyskerin 300126 Fd, REc Dyskeratosis congenita, X-linked, 305000 (3) X(Dkc1)
23.732 5 19 97 Xq28 DNASE1L1, DNL1L P Deoxyribonuclease I-like 1 300081 RE between QM and DXS1010E
23.733 5 28 13 Xq28 DUSP9, MKP4 P Dual-specificity phosphatase 9 300134 Psh, REc
23.734 3 22 93 Xq28 DXS522E, F8B P DNA segment, single copy, expressed probes, intron 22 probe, F8B 305424 RE
23.735 4 4 02 Xq28 EMD, EDMD, STA C Emerin 300384 F, Fd, H, REn in distal Xq28 Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
23.736 9 13 92 Xq28 F8A, DXS522E, HAP40 C Factor VIII associated gene 1 305423 RE 3 copies, 1 in intron 22 of F8C X(F8a)
23.737 9 28 00 Xq28 F8, F8C, HEMA C Coagulation factor VIII, procoagulant component 300841 F, Fd, REa, A, RE cen-G6PD-3' end of F8C-5'-ter; 1.1Mb from telomere Hemophilia A, 306700 (3) X(Cf8)
23.738 5 28 13 Xq28 FAM3A P Family with sequence similarity 3, member A 300492 REc
23.739 11 22 09 Xq28 FAM11A, FRAXF P Family with sequence similarity 11, member A 300031 REc
23.740 6 18 12 Xq28 FAM50A, DXS9928E, HXC26 P Family with sequence similarity 50, member A 300453 REc
23.741 4 23 08 Xq28 FAM58A, STAR P Family with sequence similarity 58, member A 300708 REc STAR syndrome, 300707 (3)
23.742 6 19 12 Xq28 FATE1 P Fetal and adult testis-expressed gene 1 300450 REc
23.743 3 5 18 Xq28 FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2 C Filamin A, alpha (actin-binding protein-280) 300017 REa, A, REn mutation identified in 1 FGS2 patient Heterotopia, periventricular, 300049 (3); Otopalatodigital syndrome, type I, 311300 (3); Otopalatodigital syndrome, type II, 304120 (3); Intestinal pseudoobstruction, neuronal, 300048 (3); Melnick-Needles syndrome, 309350 (3); Frontometaphyseal dysplasia 1, 305620 (3); ?FG syndrome 2, 300321 (3); Cardiac valvular dysplasia, X-linked, 314400 (3); Terminal osseous dysplasia, 300244 (3); Congenital short bowel syndrome, 300048 (3) X(Fln1)
23.744 01 9 18 Xq28 G6PD, G6PD1 C Glucose-6-phosphate dehydrogenase 305900 F, S, REb, RE Hemolytic anemia, G6PD deficient (favism), 300908 (3); {Resistance to malaria due to G6PD deficiency}, 611162 (3) X(G6pd)
23.745 5 28 13 Xq28 GAB3 P GRB2-associated binding protein 3 300482 REc, R
23.746 12 29 89 Xq28 GABRA3 C Gamma-aminobutyric acid (GABA) A receptor, alpha-3 305660 H, REa, A, RE 4Mb from telomere X(Gabra3)
23.747 6 9 98 Xq28 GABRE P Gamma-aminobutyric acid (GABA) A receptor, epsilon 300093 REn
23.748 8 30 01 Xq28 GABRQ P Gamma-aminobutyric acid receptor, theta 300349 REc
23.749 9 8 11 Xq28 GDI1, RABGD1A, MRX41, MRX48 P GDP dissociation inhibitor 1 300104 REn Mental retardation, X-linked 41, 300849 (3)
23.750 6 7 10 Xq28 HAUS7, UCHL5IP, UIP1 P HAUS augmin-like complex, subunit 7 300540 REc
23.751 5 14 95 Xq28 HMS1, GAY1 L Homosexuality, male 306995 Fd [?Homosexuality, male] (2)
23.752 2 7 01 Xq28 GPR50 P G protein-coupled receptor 50 300207 R X(Gpr50)
23.753 2 8 13 Xq28 H2AFB, H2ABBD P H2A histone family, member B 300445 REc
23.754 11 1 13 Xq28 HCFC1, HCF1, MRX3 C Host cell factor C1 (VP16-accessory protein) 300019 REn, REa, A, Fd 50kb distal to V2R Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3) X(Hcfc1)
23.755 7 17 14 Xq28 HMGB3, HMG4, HMG2A, MCOPS13 P High-mobility group box 3 (high mobility group protein 4) 300193 REc, Fd mutation identified in 1 MCOPS13 family ?Microphthalmia, syndromic 13, 300915 (3)
23.756 4 21 99 Xq28 IDH3G C Isocitrate dehydrogenase 3 (NAD+), gamma 300089 REc
23.757 2 9 11 Xq28 IDS, MPS2, SIDS C Iduronate 2-sulfatase (Hunter syndrome) 300823 X/A, Fd, F, RE telomeric IDS2 source of inversion in IDS Mucopolysaccharidosis II, 309900 (3) X(Ids)
23.758 5 19 15 Xq28 IKBKG, NEMO, FIP3, IP, IPD2, AMCBX1, IMD33 C Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma (NF-kappa-B essential modulator) 300248 Fd, REn Incontinentia pigmenti, 308300 (3); Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (3); Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3); Immunodeficiency, isolated, 300584 (3); Immunodeficiency 33, 300636 (3); Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3) X(Ikbkg)
23.759 11 6 95 Xq28 IL9R C Interleukin-9 receptor 300007 A, REc in PAR2 pseudoautosomal region
23.760 2 1 01 Xq28 IRAK1 P Interleukin 1 receptor-associated kinase 1 300283 R X(Irak1)
23.761 1 29 13 Xq28 L1CAM, CAML1, HSAS1, MASA, SPG1 C L1 cell adhesion molecule 308840 A, RE, H, Fd between RCP/GCP cluster and G6PD Hydrocephalus due to aqueductal stenosis, 307000 (3); MASA syndrome, 303350 (3); CRASH syndrome, 303350 (3); Hydrocephalus with Hirschsprung disease, 307000 (3); Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3); Corpus callosum, partial agenesis of, 304100 (3) X(L1cam)
23.762 10 31 17 Xq28 LAGE3, ITBA2, GAMOS2 P L antigen family member 3 300060 RE Galloway-Mowat syndrome 2, X-linked, 301006 (3)
23.763 3 14 13 Xq28 LINC00850, KUCG1 P Long intergenic noncoding RNA 850 300892 REc
23.764 5 6 08 Xq28 MAFD2, MDX L Major affective disorder 2 309200 F linkage to G6PD,CB in non-Ashkenazi Jews {?Major affective disorder 2} (2)
23.765 2 5 96 Xq28 MAGE1 C Melanoma antigen 1 (directs expression of antigen MZ2-E) 300016 REa, A cluster of 12 genes
23.766 6 29 99 Xq28 MAGEA2, MAGE2 P Melanoma antigen, family A, 2 300173 RE, REn
23.767 5 26 13 Xq28 MAGEA2B P Melanoma antigen, family A, 2B 300549 REc
23.768 6 29 99 Xq28 MAGEA3, MAGE3 C Melanoma antigen, family A, 3 300174 RE, REn
23.769 6 29 99 Xq28 MAGEA4, MAGE4A, MAGE4B P Melanoma antigen, family A, 4 300175 RE, REn
23.770 7 17 01 Xq28 MAGEA5, MAGE5 P Melanoma antigen, family A, 5 300340 REa, REc X(Mage5)
23.771 7 17 01 Xq28 MAGEA8, MAGE8 P Melanoma antigen, family A, 8 300341 REa, REc X(Mage8)
23.772 7 17 01 Xq28 MAGEA9, MAGE9 P Melanoma antigen, family A, 9 300342 REa, REc
23.773 3 19 09 Xq28 MAGEA9B P Melanoma antigen, family A, 9B 300764 REc
23.774 7 17 01 Xq28 MAGEA10, MAGE10 P Melanoma antigen, family A, 10 300343 REa, REc
23.775 7 17 01 Xq28 MAGEA11, MAGE11 P Melanoma antigen, family A, 11 300344 REc, REa
23.776 6 29 99 Xq28 MAGEA6, MAGE6 P Melanoma antigen, family A, 6 300176 RE, REn
23.777 6 29 99 Xq28 MAGEA12, MAGE12 P Melanoma antigen, family A, 12 300177 RE, REn
23.778 2 23 09 Xq28 MAMLD1, CXorf6, F18, HYSP2 C Mastermind-like domain containing 1 300120 REc, D near MTM1 in microdeletion Hypospadias 2, X-linked, 300758 (3)
23.779 7 14 15 Xq28 MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13 C Methyl-CpG-binding protein-2 300005 H, REc, Ch, Fd, A 70kb centromeric of RCP/GCP Rett syndrome, 312750 (3); Mental retardation, X-linked, syndromic 13, 300055 (3); Rett syndrome, preserved speech variant, 312750 (3); Encephalopathy, neonatal severe, 300673 (3); {Autism susceptibility, X-linked 3}, 300496 (3); Mental retardation, X-linked syndromic, Lubs type, 300260 (3); Rett syndrome, atypical, 312750 (3) X(Mecp2)
23.780 12 21 09 Xq28 MIR105-1, MIRN105-1 P Micro RNA 105-1 300811 REc
23.781 12 21 09 Xq28 MIR105-2, MIRN105-2 P Micro RNA 105-2 300812 REc
23.782 9 20 14 Xq28 MIR718 P Micro RNA 718 300929 REc
23.783 4 1 09 Xq28 MIR224, MIRN224 P Micro RNA 224 300769 REc
23.784 10 21 92 Xq28 MPP1, PEMP, EMP55 P Membrane protein, palmitoylated-1, 55kD 305360 REa, REn ~30kb 3' and centromeric to F8 X(Emp55)
23.785 10 23 87 Xq28 MRSD, CHRS P Mental retardation-skeletal dysplasia 309620 Fd Mental retardation-skeletal dysplasia (2)
23.786 9 19 00 Xq28 MRXSA P Armfield X-linked mental retardation syndrome 300261 Fd Mental retardation syndrome, X-linked, Armfield type (2)
23.787 6 15 99 Xq28 MTCP1 P Mature T-cell proliferation 1 300116 Ch, A
23.788 12 20 02 Xq28 MTM1, MTMX C Myotubularin 300415 Fd, REc close to F8 Myotubular myopathy, X-linked, 310400 (3)
23.789 3 29 99 Xq28 MTMR1 P Myotubularin-related protein-1 300171 REc
23.790 6 28 11 Xq28 MYMY4, CXDELq38 P Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism and facial dysmorphism 300845 Ch contiguous gene deletion syndrome (3.4kb) Moyamoya disease 4 (4)
23.791 11 12 98 Xq28 MYP1 P Myopia 1, X-linked 310460 Fd Myopia-1 (2)
23.792 12 10 15 Xq28 NAA10, ARD1A, ARD1, TE2, NATD, OGDNS, MCOPS1 P N-alpha-acetyltransferase 10, NatA catalytic subunit 300013 RE, Fd mutation identified in 1 MCOPS1 family Ogden syndrome, 300855 (3); ?Microphthalmia, syndromic 1, 309800 (3)
23.793 2 11 11 Xq28 NSDHL P NAD(P)H steroid dehydrogenase-like protein 300275 REc CHILD syndrome, 308050 (3); CK syndrome, 300831 (3) X(Nsdhl)
23.794 9 13 10 Xq28 OPN1C P OPN1LW and OPN1MW genes, controller of 300824 REc
23.795 9 13 10 Xq28 OPN1LW, RCP, CBP, CBBM C Red cone pigment (opsin 1, long-wave-sensitive) 300822 F, RE, A, Fd 5' to CBD Colorblindness, protan, 303900 (3); Blue cone monochromacy, 303700 (3) X(Rsvp)
23.796 8 30 10 Xq28 OPN1MW, GCP, CBD, CBBM C Green cone pigment (opsin 1, medium-wave-sensitive) 300821 F, RE, A, Fd linked to G6PD; multiple genes Colorblindness, deutan, 303800 (3); Blue cone monochromacy, 303700 (3) X(Rsvp)
23.797 3 28 17 Xq28 PASD1, CT64, OXTES1 P PAS domain-containing repressor 1 300993 REc
23.798 1 11 07 Xq28 PDZD4, PDZK4, PDZRN4L, KIAA1444, LU1 C PDZ domain-containing 4 300634 R, REc, H X(Pdzd4)
23.799 11 29 99 Xq28 PLXNB3, PLXN6 P Plexin B3 300214 REn
23.800 10 9 07 Xq28 PNCK, CAMK1B, BSTK3 P Pregnancy-upregulated, nonubiquitous, CAM kinase 300680 H, REn X(Pnck)
23.801 5 26 13 Xq28 PNMA3, MA3 P Paraneoplastic MA antigen 3 300675 REc
23.802 3 7 14 Xq28 PNMA5, KIAA1934 C Paraneoplastic MA antigen family, member 5 300916 REc
23.803 3 7 14 Xq28 PNMA6A, PNMA6 P Paraneoplastic MA antigen family, member 6A 300917 REc
23.804 1 2 08 Xq28 PRRG3, PRGP3, TMG3 P Proline-rich gamma-carboxyglutamic acid protein 3 300685 REc
23.805 1 21 15 Xq28 RAB39B, MRX72, WSMN C Ras-associated protein RAB39B 300774 Fd, REc mutation identified in 1 WSMN family Mental retardation, X-linked 72, 300271 (3); ?Waisman syndrome, 311510 (3)
23.806 6 14 94 Xq28 RENBP P Renin-binding protein 312420 REn, Psh
23.807 2 15 96 Xq28 RGC1 P Rho-GAP hematopoietic protein C1 300023 RE
23.808 7 19 06 Xq28 RP34 P Retinitis pigmentosa 34 300605 Fd Retinitis pigmentosa 34 (2)
23.809 7 6 17 Xq28 RPL10, DXS648, QM, AUTSX5, MRXS35 C Ribosomal protein L10 312173 S, RE {Autism, susceptibility to, X-linked 5}, 300847 (3); Mental retardation, X-linked, syndromic, 35, 300998 (3)
23.810 12 4 03 Xq26.3 SAGE P Sarcoma antigen 300359 R
23.811 2 15 96 Xq28 SEX P Sex chromosome X transmembrane protein of HGF receptor family 3 300022 RE
23.812 7 18 13 Xq28 SLC6A8, CRTR, CCDS1 C Solute carrier family 6 (neurotransmitter transporter, creatine), member 8 300036 REa, Psh, A distal to G6PD Cerebral creatine deficiency syndrome 1, 300352 (3) X(Slc6a8)
23.813 3 16 10 Xq28 SLC10A3, P3 P Solute carrier family 10 (sodium/bile acid cotransporter family) member 3 (protein p3) 312090 RE, H order: G6PD-3'-(7kb)-5'-P3-3'-(0.5kb)-5'-GDX X(P3)
23.814 2 2 10 Xq28 SLEB15 P Systemic lupus erythematosus, susceptibility to, 15 300809 Fd associated with rs17435 {Systemic lupus erythematosus, susceptibility to, 15} (2)
23.815 5 25 09 Xq28 SPRY3 P Sprouty, Drosophila, homolog of, 3 300531 REc in pseudoautosomal region PAR2
23.816 7 27 17 Xq28 SRPK3, STK23, MSSK1 P Protein kinase, serine/arginine-specific, 3 301002 REc, H X(Srpk3)
23.817 11 29 16 Xq28 SSR4, TRAPD, CDG1Y P Signal sequence receptor, delta 300090 REc Congenital disorder of glycosylation, type Iy, 300934 (3)
23.818 7 17 12 Xq28 TAZ, EFE2, BTHS, CMD3A, LVNCX C Tafazzin 300394 Fd Barth syndrome, 302060 (3)
23.819 8 13 14 Xq28 TEX28 P Testis-expressed gene on Xq28 300092 REn
23.820 8 25 98 Xq28 TKCR, TKC C Torticollis, keloids, cryptorchidism and renal dysplasia 314300 X/A distal to G6PD Goeminne TKCR syndrome (2)
23.821 10 15 98 Xq28 TKTL1, TKT2, TKR P Transketolase-like 1 300044 REf between GCP and FLN1
23.822 5 4 12 Xq28 TMEM187, CXorf12, DXS9878E, ITBA1 gene P Transmembrane protein 187 300059 RE
23.823 4 21 16 Xq28 TMLHE, BBOX2, TMLH, TMLHED, AUTSX6 P Epsilon-trimethyllysine hydroxylase 300777 REc {Autism, susceptibility to, X-linked 6}, 300872 (3)
23.824 9 10 07 Xq28 UBL4A, GDX, UBL4, DX254E P Ubiquitin-like 4A 312070 RE, H 40kb 3' to G6PD X(Gdx)
23.825 12 11 02 Xq28 TREX2 P 3-prime repair exonuclease 2 300370 REc
23.826 10 12 09 Xq28 VAMP7, SYBL1, TIVAMP P Vesicle-associated membrane protein 7 300053 D
23.827 7 13 98 Xq28 VBP1 P Von Hippel-Lindau binding protein-1 300133 REc X(Vbp1)
23.828 9 11 15 Xq28 VMA21, XMEA P Vma21, S. cerevisiae, homolog of 300913 REc Myopathy, X-linked, with excessive autophagy, 310440 (3)
23.829 10 23 87 Xq28 XM P Xm 314900 F linked to DCB, PCB
23.830 3 3 03 Xq28 ZNF185 P Zinc finger protein 185 300381 REc
23.831 2 28 03 Xq23 AMOT, KIAA1071 P Angiomotin 300410 Psh
23.832 11 3 11 Chr.X CCCSX P Cerebral-cerebellar-coloboma syndrome, X-linked 300864 Fd Cerebral-cerebellar-coloboma syndrome, X-linked (2)
23.833 2 3 04 Chr.X CVMRF P Cubitus valgus with mental retardation and unusual facies 300471 Fd Cubitus valgus with mental retardation and unusual facies (2)
23.834 6 27 08 Chr.X DFCTRPS P Deafness, cataract, retinitis pigmentosa, and sperm abnormalities 300719 Fd Deafness, cataract, retinitis pigmentosa, and sperm abnormalities (2)
23.835 2 7 01 Xp22.12 EIF1A, EIF4C, EIF1AX P Eukaryotic translation initiation factor 1A 300186 REa
23.836 3 9 12 Chr.X THCYTX P Thrombocythemia, X-linked 300331 Fd Thrombocythemia, X-linked (2)
23.837 12 13 00 Xp11.22 GAGED2, XAGE1 P G antigen, family D, 2 300289 REa
23.838 8 25 98 Xq24 IL13RA1 P Interleukin-13 receptor, alpha-1 300119 Psh
23.839 1 30 01 Xp11.21 KLF8, ZNF741, BKLF3 P Kruppel-like factor 8 300286 R
23.840 7 26 06 Chr.X MCOPCB1 P Microphthalmia, isolated, with coloboma 1 300345 Fd Microphthalmia with coloboma 1 (2)
23.841 2 2 14 Chr.X MRX95 P Mental retardation, X-linked 95 300716 Fd Mental retardation, X-linked 95 (2)
23.842 3 25 15 Chr.X MRXSBWB P Brooks-Wisniewski-Brown syndrome 300612 Fd Brooks-Wisniewski-Brown syndrome (2)
23.843 3 25 15 Chr.X MRXSMP P Mental retardation, X-linked, syndromic, Martin-Probst type 300519 Fd Mental retardation, X-linked, syndromic, Martin-Probst type (2)
23.844 8 27 01 Xq22.1 NXF2 C Nuclear RNA export factor 2 300315 REc, R
23.845 2 1 01 Xp11.23 PIM2 P Oncogene PIM2 300295 R
23.846 5 7 01 Xq26.1 RAB33A P Ras-associated protein RAB33A 300333 REc
23.847 8 27 01 Xp22.2 REPS2, POB1 P RALBP1-associated EPS domain-containing protein 2 300317 R
23.848 12 5 01 Xq22.1 TAF7L, TAF2Q P TAF7-like RNA polymerase II, TATA box-binding protein-associated factor, 50kD 300314 R
23.849 3 29 01 Xq22.3 TEX13A P Testis-expressed gene 13A 300312 R
23.850 3 29 01 Xq22.3 TEX13B P Testis-expressed gene 13B 300313 R
24.1 12 19 11 Yp11.2 AKAP17A, SFRS17A, XE7Y P A kinase (PRKA) anchor protein 17A 465000 REn see 300015 locus
24.2 10 4 93 Yp11.2 ASMTY P Acetylserotonin methyltransferase (Y chromosome) 402500 REa, Fd pseudoautosomal
24.3 3 23 04 Yp11.2 ASMTLY P Acetylserotonin methyltransferase-like, Y-linked 400011 REc
24.4 10 4 93 Yp11.2 MIC2Y C Antigen identified by monoclonal 12E7, Y homolog 450000 S, A, D, Fd pseudoautosomal
24.5 11 16 09 Yp11.2 SHOXY P Short stature homeo box, Y-linked 400020 Ch, A pseudoautosomal Short stature, idiopathic familial, 300582 (3); Leri-Weill dyschondrosteosis, 127300 (3); Langer mesomelic dysplasia, 249700 (3)
24.6 10 13 93 Yp11.2 TSPY1, TSPY P Testis-specific protein, Y-linked, 1 480100 RE
24.7 7 1 16 Yp11.32 PLCXD1Y P Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 1 400046 REc in pseudoautosomal region
24.8 9 5 01 Yp11.2 CRLF2Y P Cytokine receptor-like factor 2, Y-linked 400023 A pseudoautosomal
24.9 10 4 93 Yp11.2 IL3RA, IL3RY, IL3RAY P Interleukin-3 receptor (Y chromosome) 430000 REa, A, REn 308385 = X homolog; pseudoautosomal
24.10 10 28 08 Yp11.2 RPS4Y1 P Ribosomal protein S4, Y-linked, 1 470000 REn
24.11 8 20 09 Yp11.2 SRY, TDF, TDY, SRXX1, SRXY1 C Sex-determining region Y (testis determining factor) 480000 Ch, Fd 46XY sex reversal 1, 400044 (3); 46XX sex reversal 1, 400045 (3) Yp(Tdy, Sry)
24.12 1 13 95 Yp11.2 ZFY C Zinc finger protein, Y-linked 490000 REn, A
24.13 7 10 02 Yp11.2 PCDH11Y, PCDH22, PCDHY P Protocadherin 22 400022 REc
24.14 8 5 97 Yp11.2 PRKY P Protein kinase, Y-linked 400008 A
24.15 3 23 04 Yp11.2 TBL1Y P Transducin-beta-like 1, Y-linked 400033 REc
24.16 2 28 03 Yp11.2 TGIF2LY, TGIFLY P Transforming growth factor-beta-induced factor 2-like, Y-linked 400025 REc
24.17 10 4 93 Yp11.2 AMELY, AMGL C Amelogenin (Y chromosome) 410000 D 301200 = X homolog
24.18 10 4 93 Yp11.2 CSF2RY P Granulocyte-macrophage colony-stimulating factor receptor, alpha subunit (Y chromosome) 425000 A 306250 = X homolog; distal to MIC2Y
24.19 3 23 04 Yp11 XGR P XG regulator 489500 REc in pseudoautosomal region
24.20 10 4 93 Yp11.2 ANT3Y P Adenine nucleotide translocator-3 (Y chromosome) 403000 REc, REn 300151 = X homolog; proximal to CSF2RY
24.21 7 8 99 Yq11.223 BPY2 P Basic protein on Y chromosome, 2 400013 RE
24.22 3 23 04 Yq HEY L Hairy ears, Y-linked 425500 Fd ?Hairy ears, Y-linked (2)
24.23 5 14 96 Yq11.223 DAZ P Deleted in azoospermia 400003 D ?same as AZF ?Sertoli-cell-only syndrome (1) 17(dazla)
24.24 3 16 09 Yq11.221 DDX3Y, DBY P DEAD/H box-3, Y-linked 400010 D
24.25 11 3 11 Yq11 DELYq11, CYDELq11, SPGFY1 P Chromosome Yq11 interstitial deletion syndrome 400042 Ch contiguous gene deletion syndrome Spermatogenic failure, Y-linked, 1 (4)
24.26 8 19 09 Yq11.223 KDM5D, JARID1D, SMCY, HYA P Lysine-specific demethylase 5D 426000 D, REc encodes H-Y epitope in mouse Yp(Smcy)
24.27 7 9 99 Yq11.223 RBMY1A1, RBM1, YRRM1, RBM2 C RNA binding motif protein, Y chromosome, family 1, member A1 400006 REc Y(Rbmy)
24.28 8 11 98 Yq11.221 UTY P Ubiquitously transcribed TPR gene on Y chromosome 400009 REn
24.29 3 23 04 Yq11.223 DAZ2 P Deleted in azoospermia 2 400026 REc
24.30 3 23 04 Yq11.23 DAZ3 P Deleted in azoospermia 3 400027 REc
24.31 3 23 04 Yq11.222-q11.223 CYorf15A P Chromosome Y open reading frame 15A 400031 REc
24.32 3 23 04 Yq11.222 HSFY P Heat shock transcription factor, Y-linked 400029 REc
24.33 3 23 04 Yq11.223 RPS4Y2 P Ribosomal protein S4, Y-linked 400030 REc
24.34 3 23 04 Yq11.2 CYorf15B P Chromosome Y open reading frame 15B 400032 REc
24.35 3 23 04 Yq11.221 NLGN4Y, KIAA0951 P Neuroligin 4, Y-linked 400028 REc
24.36 11 2 04 Yq11.223 PRY2 P PTPBL-related gene on Y, 2 400041 REc
24.37 11 3 11 Yq11.221 USP9Y, DFFRY, SPGFY2 P Ubiquitin-specific protease-9, Y chromosome (Drosophila fat facets related, Y-linked) 400005 REa, REc Spermatogenic failure, Y-linked, 2, 415000 (3)
24.38 8 19 09 Yq11.222 CDY2 P Chromodomain protein, Y chromosome, 2 400018 REc
24.39 8 24 09 Yq11.221 TMSB4Y P Thymosin, beta-4, Y chromosome 400017 REc
24.40 8 24 09 Yq11.221 VCY, BPY1 P Variably charged, Y chromosome 400012 REc
24.41 8 24 09 Yq11.222 XKRY P XK-related protein on Y chromosome 400015 REc
24.42 8 19 09 Yq11.223 EIF1AY P Eukaryotic translation initiation factor 1A, Y isoform 400014 REc
24.43 8 24 09 Yq11.223 PRY P PTPN13-like, Y-linked 400019 Psh
24.44 5 28 13 Yq11.223 TTTY4 P Testis-specific transcript, Y-linked, 4 400037 REc
24.45 5 28 13 Yq11.223 TTTY5 P Testis-specific transcript, Y-linked, 5 400038 REc
24.46 5 28 13 Yq11.223 TTTY6 P Testis-specific transcript, Y-linked, 6 400039 REc
24.47 5 28 13 Yq11.223 TTY17 P Testis-specific transcript, Y-linked, 17 400040 REc
24.48 8 19 09 Yq11.23 CDY1, CDY P Chromodomain protein, Y chromosome 400016 REc Y(Cdy1)
24.49 11 10 17 Yq11.23 CSPG4P1Y, CSPG4LY P Chondroitin sulfate proteoglycan 4 pseudogene 1, Y-linked 400034 REc
24.50 5 28 13 Yq11.23 GOLGA2LY P Golgi autoantigen, golgin subfamily A, 2-like, Y-linked 400035 REc
24.51 5 28 13 Yq11.23 TTTY3 P Testis-specific transcript, Y-linked, 3 400036 REc
24.52 8 25 98 Yq12 GCY, TSY, STA L Growth control, Y-chromosome influenced 475000 Ch, D
24.53 3 20 08 Chr.Y DFNY1 P Deafness, Y-linked 1 400043 Fd Deafness, Y-linked 1 (1)
24.54 2 8 01 Chr.Y RPY P Retinitis pigmentosa, Y-linked 400004 Fd Retinitis pigmentosa, Y-linked (2)
#
#
#
#
# Native OMIM data only in this file. A version of this map integrated
# with NCBI genomic coordinates, HGNC symbols, and more is genemap2.txt
#
# Confidence Codes :
# ------------------
#
# The certainty with which assignment of genes/loci to chromosomes or the linkage between
# two loci has been established has been graded into the following classes:
#
# C = confirmed - observed in at least two laboratories or in several families.
# P = provisional - based on evidence from one laboratory or one family.
# I = inconsistent - results of different laboratories disagree.
# L = limbo - evidence not as strong as that provisional, but included for
# heuristic reasons. (Same as `tentative'.)
#
#
# Mapping Method Codes :
# ----------------------
#
# The methods for mapping genes are symbolized as follows:
#
# A = in situ DNA-RNA or DNA-DNA annealing (`hybridization'); e.g.,
# ribosomal RNA genes to acrocentric chromosomes;
# kappa light chain genes to chromosome 2.
#
# AAS = deductions from the amino acid sequence of proteins; e.g., linkage of
# delta and beta hemoglobin loci from study of hemoglobin Lepore.
# (Includes deductions of hybrid protein
# structure by monoclonal antibodies; e.g., close linkage of MN and SS from
# study of Lepore-like MNSs blood group antigen.)
# Also includes examples of hybrid genes as in one form of hypertrophic
# cardiomyopathy and in apolipoprotein (Detroit).
#
# C = chromosome mediated gene transfer (CMGT); e.g., cotransfer of galactokinase
# and thymidine kinase.
# (In conjunction with this approach fluorescence-activated flow sorting
# can be used for transfer of specific chromosomes.)
#
# Ch = chromosomal change associated with particular phenotype and not proved to
# represent linkage (Fc), deletion (D), or virus effect (V); e.g., loss of
# 13q14 band in some cases of retinoblastoma.
# (`Fragile sites,' observed in cultured cells with or without
# folate-deficient medium or BrdU treatment, fall into this class of method;
# e.g., fragile site at Xq27.3 in one form of X-linked mental retardation.
# Fragile sites have been used as markers in family linkage studies; e.g.,
# FS16q22 and haptoglobin.)
#
# D = deletion or dosage mapping (concurrence of chromosomal deletion and
# phenotypic evidence of hemizygosity), trisomy mapping (presence of three
# alleles in the case of a highly
# polymorphic locus), or gene dosage effects (correlation of trisomic state of
# part or all of a chromosome with 50% more gene product).
# Includes "loss of heterozygosity" (loss of alleles) in malignancies.
# Examples: glutathione reductase to chromosome 8.
# Includes DNA dosage; e.g., fibrinogen loci to 4q2.
# Dosage mapping also includes coamplification in tumor cells.
#
# EM = exclusion mapping, i.e., narrowing the possible location of loci by
# exclusion of parts of the map by deletion mapping, extended to include
# negative lod scores from families with marker chromosomes and negative lod
# scores with other assigned loci; e.g., support for assignment of MNSs to 4q.
#
# F = linkage study in families; e.g., linkage of ABO blood group and
# nail-patella syndrome.
# (When a chromosomal heteromorphism or rearrangement is one trait, Fc
# is used; e.g., Duffy blood group locus on chromosome 1.
# When 1 or both of the linked loci are identified by a DNA polymorphism,
# Fd is used; e.g., Huntington disease on chromosome 4. F = L in
# the HGM workshops.)
#
# H = based on presumed homology; e.g., proposed assignment of TF to 3q.
# Includes Ohno's law of evolutionary conservatism of X chromosome in mammals.
# Mainly heuristic or confirmatory.
#
# HS = DNA/cDNA molecular hybridization in solution (`Cot analysis'); e.g.,
# assignment of Hb beta to chromosome 11 in derivative hybrid cells.
#
# L = lyonization; e.g., OTC to X chromosome. (L = family linkage study in the
# HGM workshops.)
#
# LD = linkage disequilibrium; e.g., beta and delta globin genes (HBB, HBD).
#
# M = Microcell mediated gene transfer (MMGT); e.g., a collagen gene (COL1A1) to
# chromosome l7.
#
# OT = ovarian teratoma (centromere mapping); e.g., PGM3 and centromere of
# chromosome 6.
#
# Pcm = PCR of microdissected chromosome segments (see REl).
#
# Psh = PCR of somatic cell hybrid DNA.
#
# R = irradiation of cells followed by `rescue' through fusion with
# nonirradiated (nonhuman) cells (Goss-Harris method of radiation-induced gene
# segregation); e.g., order of genes on Xq.
# (Also called cotransference. The complement of cotransference = recombination.)
#
# RE = Restriction endonuclease techniques; e.g., fine structure map of the
# beta-globin cluster (HBBC) on 11p; physical linkage of 3 fibrinogen genes
# (on 4q) and APOA1 and APOC3 (on 11p).
#
# REa = combined with somatic cell hybridization; e.g., NAG (HBBC) to 11p.
#
# REb = combined with chromosome sorting; e.g., insulin to 11p.
# Includes Lebo's adaptation (dual laser chromosome sorting and spot blot DNA
# analysis); e.g., MGP to 11q. (For this method, using flow sorted
# chromosomes, W is the symbol adopted by the HGM workshops.)
#
# REc = hybridization of cDNA to genomic fragment (by YAC, PFGE,
# microdissection, etc.), e.g., A11 on Xq.
#
# REf = isolation of gene from genomic DNA; includes 'exon trapping'
#
# REl = isolation of gene from chromosome-specific genomic
# library (see Pcm).
#
# REn = neighbor analysis in restriction fragments, e.g., in PFGE.
#
# S = `segregation' (cosegregation) of human cellular traits and human
# chromosomes (or segments of chromosomes) in particular clones from interspecies
# somatic cell hybrids; e.g., thymidine kinase to chromosome 17.
# When with restriction enzyme, REa; with hybridization in solution, HS.
#
# T = TACT = telomere-associated chromosome fragmentation; e.g.,
# interferon-inducible protein 6-16.
#
# V = induction of microscopically evident chromosomal change by a virus; e.g.,
# adenovirus 12 changes on chromosomes 1 and 17.
#
# X/A = X-autosome translocation in female with X-linked recessive disorder;
# e.g., assignment of Duchenne muscular dystrophy to Xp21.
#
#
# Phenotypes :
# ------------
#
# 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.
#
#
# Phenotype Mapping Key - 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.
#
#