mimTitles.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
# Prefix Mim Number Preferred Title; symbol Alternative Title(s); symbol(s) Included Title(s); symbols
NULL 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Percent 100070 AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1; AAA1 ANEURYSM, ABDOMINAL AORTIC; AAA;; ABDOMINAL AORTIC ANEURYSM
Number Sign 100100 PRUNE BELLY SYNDROME; PBS ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM;; EAGLE-BARRETT SYNDROME; EGBRS
NULL 100200 ABDUCENS PALSY
Number Sign 100300 ADAMS-OLIVER SYNDROME 1; AOS1 AOS;; ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL;; CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES;; APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS, INCLUDED
Caret 100500 MOVED TO 200150
Percent 100600 ACANTHOSIS NIGRICANS
Asterisk 100640 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A1; ALDH1A1 ALDEHYDE DEHYDROGENASE 1; ALDH1;; ACETALDEHYDE DEHYDROGENASE 1;; ALDH, LIVER CYTOSOLIC;; RETINAL DEHYDROGENASE 1; RALDH1
Plus 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2 ALDEHYDE DEHYDROGENASE 2;; ALDH, LIVER MITOCHONDRIAL;; ACETALDEHYDE DEHYDROGENASE 2 SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY TO POOR RESPONSE TO, INCLUDED;; ALDH2/HMGIC FUSION GENE, INCLUDED;; ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO, INCLUDED
Asterisk 100660 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 1; ALDH3A1 ALDEHYDE DEHYDROGENASE 3; ALDH3;; ACETALDEHYDE DEHYDROGENASE 3;; ALDH, STOMACH TYPE
Asterisk 100670 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER B1; ALDH1B1 ALDEHYDE DEHYDROGENASE 5; ALDH5;; ACETALDEHYDE DEHYDROGENASE 5
NULL 100675 ACETAMINOPHEN METABOLISM
Asterisk 100678 ACETYL-CoA ACETYLTRANSFERASE 2; ACAT2 ACETOCOENZYME A ACETYLTRANSFERASE 2;; ACETOACETYL-CoA THIOLASE, CYTOSOLIC
Caret 100680 MOVED TO 100740
Asterisk 100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1 CHRNA;; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT; ACHRA
NULL 100700 ACHARD SYNDROME
Asterisk 100710 CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1; CHRNB1 CHRNB;; ACETYLCHOLINE RECEPTOR, MUSCLE, BETA SUBUNIT; ACHRB
Asterisk 100720 CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; CHRND ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT; ACHRD
Asterisk 100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT; ACHRE
Asterisk 100730 CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE; CHRNG ACETYLCHOLINE RECEPTOR, MUSCLE, GAMMA SUBUNIT; ACHRG
Caret 100735 MOVED TO 142445
Asterisk 100740 ACETYLCHOLINESTERASE; ACHE ACETYLCHOLINE ACETYLHYDROLASE;; YT
Asterisk 100790 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 1; ASCL1 MAMMALIAN ACHAETE-SCUTE HOMOLOG 1; MASH1;; HUMAN ACHAETE-SCUTE HOMOLOG 1; HASH1
Number Sign 100800 ACHONDROPLASIA; ACH
Percent 100820 ACHOO SYNDROME AUTOSOMAL DOMINANT COMPELLING HELIOOPHTHALMIC OUTBURST SYNDROME;; PHOTIC SNEEZE REFLEX;; SNEEZING FROM LIGHT EXPOSURE;; PEROUTKA SNEEZE
Asterisk 100850 ACONITASE, MITOCHONDRIAL; ACO2 ACONM
Asterisk 100880 ACONITASE 1, SOLUBLE; ACO1 ACONITATE HYDRATASE, SOLUBLE;; ACONITASE, SOLUBLE; ACONS;; IRON-RESPONSIVE ELEMENT-BINDING PROTEIN 1; IREB1;; IRE-BINDING PROTEIN 1; IREBP1; IREBP;; IRON REGULATORY PROTEIN 1; IRP1
Caret 100900 MOVED TO 100880
Number Sign 101000 NEUROFIBROMATOSIS, TYPE II; NF2 NEUROFIBROMATOSIS, CENTRAL TYPE;; ACOUSTIC SCHWANNOMAS, BILATERAL;; BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;; ACOUSTIC NEURINOMA, BILATERAL; ACN
NULL 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III ACPS III;; ACPS WITH LEG HYPOPLASIA;; SAKATI-NYHAN SYNDROME
Number Sign 101200 APERT SYNDROME ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;; ACS I APERT-CROUZON DISEASE, INCLUDED;; ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;; ACS II, INCLUDED;; VOGT CEPHALODACTYLY, INCLUDED
Number Sign 101400 SAETHRE-CHOTZEN SYNDROME; SCS ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;; ACS III;; CHOTZEN SYNDROME;; ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;; BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED; BPES3, FORMERLY, INCLUDED
Number Sign 101600 PFEIFFER SYNDROME ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;; ACS V;; NOACK SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED
Number Sign 101800 ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 ADOHR
NULL 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE AFD, CATANIA TYPE
NULL 101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT
Percent 101850 PALMOPLANTAR KERATODERMA, PUNCTATE TYPE III; PPKP3 ACROKERATOELASTOIDOSIS; AKE;; COLLAGENOUS PLAQUES OF HANDS AND FEET
Number Sign 101900 ACROKERATOSIS VERRUCIFORMIS; AKV HOPF DISEASE
NULL 102000 ACROLEUKOPATHY, SYMMETRIC
Percent 102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA ROSENTHAL-KLOEPFER SYNDROME
Percent 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME AFA SYNDROME;; THICK LIPS AND ORAL MUCOSA
Number Sign 102200 PITUITARY ADENOMA 1, MULTIPLE TYPES; PITA1 SOMATOTROPINOMA, FAMILIAL ISOLATED; FIS;; ISOLATED FAMILIAL SOMATOTROPINOMA; IFS;; SOMATOTROPHINOMA, FAMILIAL;; ACROMEGALY DUE TO PITUITARY ADENOMA 1;; PAGH1 PITUITARY ADENOMA PREDISPOSITION, INCLUDED; PAP, INCLUDED;; PITUITARY ADENOMA, FAMILIAL ISOLATED, INCLUDED; FIPA, INCLUDED
Percent 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1 ACROMELALGIA, HEREDITARY;; EKBOM SYNDROME
Percent 102350 ACROMIAL DIMPLES SUPRASPINOUS FOSSAE, CONGENITAL
Number Sign 102370 ACROMICRIC DYSPLASIA; ACMICD
NULL 102400 ACROOSTEOLYSIS
Asterisk 102480 ACROSIN; ACR PROACROSIN, INCLUDED;; PREPROACROSIN, INCLUDED
Caret 102490 MOVED TO 607323
Number Sign 102500 HAJDU-CHENEY SYNDROME; HJCYS ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;; CHENEY SYNDROME;; ARTHRODENTOOSTEODYSPLASIA;; SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS
Percent 102510 ACROPECTOROVERTEBRAL DYSPLASIA; ACRPV F SYNDROME
NULL 102520 ACRORENAL SYNDROME
Asterisk 102525 ACROSOMAL VESICLE PROTEIN 1; ACRV1 SP-10 PROTEIN
Number Sign 102530 SPERMATOGENIC FAILURE 6; SPGF6 GLOBOZOOSPERMIA;; ROUND-HEADED SPERMATOZOA;; SPERMATOZOA, ROUND-HEADED;; ACROSOME MALFORMATION OF SPERMATOZOA
Asterisk 102540 ACTIN, ALPHA, CARDIAC MUSCLE; ACTC1 ACTC;; SMOOTH MUSCLE ACTIN;; ACTIN, ALPHA
Asterisk 102545 ACTIN, GAMMA-2, SMOOTH MUSCLE, ENTERIC; ACTG2 ACTSG;; ACTE;; ACTIN, ALPHA-3, FORMERLY; ACTA3, FORMERLY
Caret 102550 MOVED TO 102630
Asterisk 102560 ACTIN, GAMMA-1; ACTG1 ACTIN, GAMMA; ACTG;; CYTOSKELETAL GAMMA-ACTIN;; ACTIN, CYTOPLASMIC, 2
Asterisk 102565 FILAMIN C; FLNC FILAMIN, GAMMA;; FILAMIN 2; FLN2;; ACTIN-BINDING PROTEIN 280, AUTOSOMAL FORM; ABP280A;; ABPA;; ACTIN-BINDING PROTEIN-LIKE; ABPL
Caret 102570 REMOVED FROM DATABASE
Asterisk 102573 ACTININ, ALPHA-2; ACTN2
Asterisk 102574 ACTININ, ALPHA-3; ACTN3
Asterisk 102575 ACTININ, ALPHA-1; ACTN1
Asterisk 102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;; ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2
Asterisk 102577 REPLICATION FACTOR C, SUBUNIT 4; RFC4 ACTIVATOR 1, 37-KD SUBUNIT;; REPLICATION FACTOR C, 37-KD SUBUNIT;; RFC2, YEAST, HOMOLOG OF
Asterisk 102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML MYL PML/RARA FUSION GENE, INCLUDED
Asterisk 102579 REPLICATION FACTOR C, SUBUNIT 1; RFC1 ACTIVATOR 1, 140-KD SUBUNIT;; REPLICATION FACTOR C, 140-KD SUBUNIT; RFC140;; RFC
Asterisk 102581 ACTIVIN A RECEPTOR, TYPE IIA; ACVR2A ACVR2
Asterisk 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3 ACUTE-PHASE RESPONSE FACTOR; APRF
NULL 102590 ACYLASE, COBALT-ACTIVATED
Asterisk 102593 ACYLOXYACYL HYDROLASE; AOAH
Asterisk 102595 ACYLPHOSPHATASE 2, MUSCLE TYPE; ACYP2 ACYLPHOSPHATASE, MUSCLE; ACYP
Asterisk 102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT
Asterisk 102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1 ASMA
Asterisk 102620 ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA; ACTA2 ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;; ACTIN, VASCULAR SMOOTH MUSCLE
Asterisk 102630 ACTIN, BETA; ACTB BETA-ACTIN;; ACTIN, CYTOPLASMIC, 1
Caret 102640 MOVED TO 102630
Asterisk 102642 STEROL O-ACYLTRANSFERASE 1; SOAT1 SOAT;; ACYL-CoA:CHOLESTEROL ACYLTRANSFERASE; ACACT;; ACAT1;; STEROL ACYLTRANSFERASE
Asterisk 102645 ACYLPEPTIDE HYDROLASE; APH N-ACYLAMINOACYLPEPTIDE HYDROLASE; APEH
NULL 102650 ADACTYLIA, UNILATERAL TERMINAL TRANSVERSE DEFECTS OF HAND, UNILATERAL
NULL 102660 ADAMANTINOMA OF LONG BONES
Asterisk 102670 MUCOSAL VASCULAR ADDRESSIN CELL ADHESION MOLECULE 1; MADCAM1 ADDRESSIN, MUCOSAL;; MUCOSAL ADDRESSIN CELL ADHESION MOLECULE 1; MACAM1
Asterisk 102680 ADDUCIN 1; ADD1 ADDUCIN, ALPHA
Asterisk 102681 ADDUCIN 2; ADD2 ADDUCIN, BETA
NULL 102699 ADENO-ASSOCIATED VIRUS INTEGRATION SITE 1; AAVS1
Number Sign 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY SCID DUE TO ADA DEFICIENCY;; ADA-SCID;; SCID DUE TO ADA DEFICIENCY, EARLY-ONSET SCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED;; SCID DUE TO ADA DEFICIENCY, LATE-ONSET, INCLUDED;; ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, INCLUDED;; PARTIAL ADA DEFICIENCY, INCLUDED
Caret 102710 MOVED TO 102720
Asterisk 102720 DIPEPTIDYL PEPTIDASE IV; DPP4 DIPEPTIDYL PEPTIDASE, INTESTINAL;; ADENOSINE DEAMINASE COMPLEXING PROTEIN 2; ADCP2;; T-CELL ACTIVATION ANTIGEN CD26; CD26
NULL 102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO
Asterisk 102750 ADENOSINE KINASE; ADK
Asterisk 102770 ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1 AMP DEAMINASE;; MYOADENYLATE DEAMINASE
Asterisk 102771 ADENOSINE MONOPHOSPHATE DEAMINASE 2; AMPD2
Asterisk 102772 ADENOSINE MONOPHOSPHATE DEAMINASE 3; AMPD3
Asterisk 102775 ADENOSINE A1 RECEPTOR; ADORA1 RDC7
Asterisk 102776 ADENOSINE A2A RECEPTOR; ADORA2A A2AR;; ADORA2;; RDC8
Asterisk 102777 ADENOSINE A2 RECEPTOR-LIKE; ADORA2L1 ADORA2B-LIKE;; ADORA2L
Percent 102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO
Number Sign 102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES PYRUVATE KINASE HYPERACTIVITY
Asterisk 102910 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, BETA SUBUNIT; ATP5B MITOCHONDRIAL ATP SYNTHASE, BETA SUBUNIT; ATPMB;; ATPSB
Caret 102920 REMOVED FROM DATABASE
Caret 102930 REMOVED FROM DATABASE
Caret 102940 REMOVED FROM DATABASE
Caret 102970 REMOVED FROM DATABASE
Asterisk 102980 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1 PITUITARY ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE; PACAP PACAP38, INCLUDED;; PACAP27, INCLUDED;; PACAP-RELATED PEPTIDE, INCLUDED; PRP, INCLUDED
Asterisk 102981 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1, RECEPTOR FOR; ADCYAP1R1 PITUITARY ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE RECEPTOR, TYPE I;; PACAP RECEPTOR, TYPE I;; PAC1
Caret 102990 MOVED TO 145600
Asterisk 103000 ADENYLATE KINASE 1; AK1 ADENYLATE KINASE, SOLUBLE
Asterisk 103020 ADENYLATE KINASE 2; AK2 ADENYLATE KINASE, MITOCHONDRIAL MYOKINASE
Asterisk 103030 ADENYLATE KINASE 3-LIKE 1; AK3L1 AK4, MOUSE, HOMOLOG OF; AK4;; ADENYLATE KINASE 3, FORMERLY; AK3, FORMERLY
Number Sign 103050 ADENYLOSUCCINASE DEFICIENCY; ADSLD ADENYLOSUCCINATE LYASE DEFICIENCY;; ADSL DEFICIENCY
Asterisk 103060 ADENYLOSUCCINATE SYNTHETASE; ADSS Ade(-)H, COMPLEMENT OF; ADEH
Asterisk 103070 ADENYLATE CYCLASE 8; ADCY8 ADCY8;; ADENYLYL CYCLASE, BRAIN, TYPE I;; ADENYLATE CYCLASE 3, FORMERLY; ADCY3, FORMERLY
Asterisk 103071 ADENYLATE CYCLASE 2; ADCY2 ADENYLYL CYCLASE 2;; ADENYLYL CYCLASE, BRAIN, TYPE II
Asterisk 103072 ADENYLATE CYCLASE 1; ADCY1 ADENYLYL CYCLASE 1;; ADENYLYL CYCLASE, FETAL BRAIN, TYPE I
Number Sign 103100 ADIE PUPIL ADIE SYNDROME;; POORLY REACTING PUPILS HOLMES-ADIE SYNDROME, INCLUDED
Asterisk 103180 ADP-RIBOSYLATION FACTOR 1; ARF1
Asterisk 103188 ADP-RIBOSYLATION FACTOR 5; ARF5
Asterisk 103190 ADP-RIBOSYLATION FACTOR 3; ARF3
Asterisk 103195 PERILIPIN 2; PLIN2 ADIPOSE DIFFERENTIATION-RELATED PROTEIN; ADRP;; ADIPOPHILIN
Percent 103200 ADIPOSIS DOLOROSA DERCUM DISEASE
Asterisk 103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 4; SLC25A4 ADENINE NUCLEOTIDE TRANSLOCATOR 1; ANT1;; ADP/ATP TRANSLOCATOR OF SKELETAL MUSCLE; ANT;; ADP/ATP TRANSLOCASE 1;; ADP/ATP CARRIER 1; AAC1
NULL 103230 ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL ADDISON DISEASE, CONGENITAL
Asterisk 103260 FERREDOXIN 1; FDX1 ADRENODOXIN; ADX
Asterisk 103270 FERREDOXIN REDUCTASE; FDXR FERREDOXIN:NADP(+) REDUCTASE;; ADRENODOXIN REDUCTASE; ADXR
Asterisk 103275 ADRENOMEDULLIN; ADM
Asterisk 103280 H19, IMPRINTED MATERNALLY EXPRESSED NONCODING TRANSCRIPT; H19 LONG INTERGENIC NONCODING RNA H19;; lincRNA H19;; ADULT SKELETAL MUSCLE GENE; ASM;; ASM1
Number Sign 103285 ADULT SYNDROME ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME
Percent 103300 HYPOGLOSSIA-HYPODACTYLIA PEROMELIA WITH MICROGNATHISM;; OROMANDIBULAR LIMB HYPOPLASIA;; AGLOSSIA-ADACTYLIA HANHART SYNDROME, INCLUDED
Asterisk 103320 AGRIN; AGRN
Caret 103321 MOVED TO 128239
Asterisk 103390 AHNAK NUCLEOPROTEIN; AHNAK DESMOYOKIN
NULL 103400 AINHUM
Percent 103420 ALACRIMA, CONGENITAL, AUTOSOMAL DOMINANT ALACRIMIA CONGENITA, AUTOSOMAL DOMINANT
Number Sign 103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE; WS2-OA
Number Sign 103500 TIETZ ALBINISM-DEAFNESS SYNDROME; TADS TIETZ SYNDROME;; ALBINISM-DEAFNESS OF TIETZ;; HYPOPIGMENTATION/DEAFNESS OF TIETZ
Number Sign 103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A PHP IA;; ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE
Caret 103581 MOVED TO 103580
Asterisk 103600 ALBUMIN; ALB
Asterisk 103700 ALCOHOL DEHYDROGENASE 1A, CLASS I, ALPHA POLYPEPTIDE; ADH1A ALCOHOL DEHYDROGENASE 1; ADH1;; ADH, ALPHA SUBUNIT
Asterisk 103710 ALCOHOL DEHYDROGENASE 5, CHI POLYPEPTIDE; ADH5 ALCOHOL DEHYDROGENASE, CHI ISOZYME;; ADH, CLASS III; ADHX;; FORMALDEHYDE DEHYDROGENASE; FDH;; FORMALDEHYDE DEHYDROGENASE, GLUTATHIONE-DEPENDENT;; S-NITROSOGLUTATHIONE REDUCTASE; GSNOR
Plus 103720 ALCOHOL DEHYDROGENASE 1B, CLASS I, BETA POLYPEPTIDE; ADH1B ALCOHOL DEHYDROGENASE 2; ADH2;; ADH, BETA SUBUNIT AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST, INCLUDED
Asterisk 103730 ALCOHOL DEHYDROGENASE 1C, GAMMA POLYPEPTIDE; ADH1C ALCOHOL DEHYDROGENASE 3; ADH3;; ADH, GAMMA SUBUNIT
Asterisk 103735 ALCOHOL DEHYDROGENASE 6; ADH6
Asterisk 103740 ALCOHOL DEHYDROGENASE 4; ADH4 ALCOHOL DEHYDROGENASE, PI ISOZYME;; ADH, CLASS II
Number Sign 103780 ALCOHOL DEPENDENCE ALCOHOLISM
Caret 103800 MOVED TO 253200 AND 258870
Asterisk 103830 ALDO-KETO REDUCTASE FAMILY 1, MEMBER A1; AKR1A1 ALDEHYDE REDUCTASE; ALR
Asterisk 103850 ALDOLASE A, FRUCTOSE-BISPHOSPHATE; ALDOA FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A;; ALDOLASE A; ALDA;; ALDOLASE 1;; FRUCTOALDOLASE A
Asterisk 103870 ALDOLASE C, FRUCTOSE-BISPHOSPHATE; ALDOC ALDOLASE 3;; FRUCTOALDOLASE C; ALDC
Asterisk 103880 ALDO-KETO REDUCTASE FAMILY 1, MEMBER B1; AKR1B1 ALDOSE REDUCTASE; AR;; ALDEHYDE REDUCTASE 1; ALDR1
Asterisk 103890 ALDOSE REDUCTASE M; ARM
Number Sign 103900 HYPERALDOSTERONISM, FAMILIAL, TYPE I; HALD1 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA;; FH I;; GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM; GSH;; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE;; ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME
NULL 103920 ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS, FAMILIAL
Asterisk 103950 ALPHA-2-MACROGLOBULIN; A2M MACROGLOBULIN, ALPHA-2
Percent 104000 ALOPECIA AREATA 1; AA1 ALOPECIA UNIVERSALIS, INCLUDED; AU, INCLUDED
Number Sign 104100 PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1; PPKCA1 PPKCA, STEVANOVIC TYPE;; KERATODERMA-HYPOTRICHOSIS-LEUKONYCHIA TOTALIS SYNDROME
NULL 104110 ALOPECIA, FAMILIAL FOCAL; ALPF
Percent 104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY SHOKEIR SYNDROME
Asterisk 104145 AFAMIN; AFM ALPHA-ALBUMIN; ALBA; ALB2
Asterisk 104150 ALPHA-FETOPROTEIN; AFP
Asterisk 104155 ZINC FINGER HOMEOBOX 3; ZFHX3 AT MOTIF-BINDING FACTOR 1; ATBF1;; AT-BINDING TRANSCRIPTION FACTOR 1;; ALPHA-FETOPROTEIN ENHANCER-BINDING PROTEIN
Asterisk 104160 GLUCOSIDASE, ALPHA, NEUTRAL AB; GANAB ALPHA-GLUCOSIDASE, NEUTRAL, AB FORM;; GLUCOSIDASE II, ALPHA SUBUNIT
Asterisk 104170 N-ACETYL-ALPHA-D-GALACTOSAMINIDASE; NAGA ALPHA-GALACTOSIDASE B; GALB
Asterisk 104175 GLYCOPROTEIN, ALPHA-GALACTOSYLTRANSFERASE 1 PSEUDOGENE; GGTA1P GGTA1;; ALPHA-1,3-GALACTOSYLTRANSFERASE
Asterisk 104180 GLUCOSIDASE, ALPHA, NEUTRAL C; GANC ALPHA-GLUCOSIDASE C, NEUTRAL
Number Sign 104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT
Asterisk 104210 ALPHA-2A-ADRENERGIC RECEPTOR; ADRA2A ADRAR;; ALPHA-2-ADRENERGIC RECEPTOR, PLATELET TYPE;; ADRENOCEPTOR, ALPHA-2A; ADRA2
Asterisk 104219 ALPHA-1D-ADRENERGIC RECEPTOR; ADRA1D ALPHA-1A-ADRENERGIC RECEPTOR, FORMERLY; ADRA1A, FORMERLY
Asterisk 104220 ALPHA-1B-ADRENERGIC RECEPTOR; ADRA1B ALPHA-1-ADRENERGIC RECEPTOR; ADRA1
Asterisk 104221 ALPHA-1A-ADRENERGIC RECEPTOR; ADRA1A ALPHA-1C-ADRENERGIC RECEPTOR, FORMERLY; ADRA1C, FORMERLY
Caret 104222 MOVED TO 104219
Asterisk 104225 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-ASSOCIATED PROTEIN 1; LRPAP1 ALPHA-2-MACROGLOBULIN RECEPTOR-ASSOCIATED PROTEIN; A2RAP; MRAP; RAP
Asterisk 104230 FUCOSYLTRANSFERASE 4; FUT4 ALPHA-3-FUCOSYLTRANSFERASE; FCT3A
Asterisk 104240 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 4; ST3GAL4 SIALYLTRANSFERASE 4C; SIAT4C;; ALPHA-3-N-ACETYLNEURAMINYLTRANSFERASE;; CMP-N-ACETYLNEURAMINATE-BETA-GALACTOSIDASE ALPHA-2,3-SIALYLTRANSFERASE;; CGS23;; NANTA3;; ST3O/N
Plus 104250 ALPHA-2C-ADRENERGIC RECEPTOR; ADRA2C ALPHA-2-ADRENERGIC RECEPTOR, RENAL TYPE CONGESTIVE HEART FAILURE AND BETA-BLOCKER RESPONSE, MODIFIER OF, INCLUDED
Asterisk 104260 ALPHA-2B-ADRENERGIC RECEPTOR; ADRA2B ALPHA-2-ADRENERGIC RECEPTOR-LIKE 1;; ADRA2L1
Number Sign 104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1
Number Sign 104300 ALZHEIMER DISEASE; AD PRESENILE AND SENILE DEMENTIA ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED; AD1, INCLUDED;; ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY, INCLUDED;; ALZHEIMER DISEASE, PROTECTION AGAINST, INCLUDED
Number Sign 104310 ALZHEIMER DISEASE 2; AD2 ALZHEIMER DISEASE 2, LATE-ONSET;; ALZHEIMER DISEASE ASSOCIATED WITH APOE4
Asterisk 104311 PRESENILIN 1; PSEN1 PS1;; S182
NULL 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM
NULL 104400 AMELIA AND TERMINAL TRANSVERSE HEMIMELIA
Number Sign 104500 AMELOGENESIS IMPERFECTA, TYPE IB; AI1B AMELOGENESIS IMPERFECTA, HYPOPLASTIC LOCAL, AUTOSOMAL DOMINANT;; AIH2;; ENAMEL HYPOPLASIA, HEREDITARY LOCALIZED
Number Sign 104510 AMELOGENESIS IMPERFECTA, TYPE IV; AI4 AMELOGENESIS IMPERFECTA, HYPOMATURATION-HYPOPLASTIC TYPE, WITH TAURODONTISM; AIHHT
Number Sign 104530 AMELOGENESIS IMPERFECTA, TYPE IA; AI1A AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA
Percent 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME
NULL 104600 AMENORRHEA-GALACTORRHEA SYNDROME
Asterisk 104610 AMILORIDE-BINDING PROTEIN 1; ABP1 ABP;; DIAMINE OXIDASE; DAO;; DAO1
Asterisk 104613 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 6A; CCT6A CCT6;; T-COMPLEX HOMOLOG TCP20; TCP20;; HISTIDINE TRANSPORT REGULATOR 3; HTR3;; AMINO ACID TRANSPORT DEFECT-COMPLEMENTING
Asterisk 104614 SOLUTE CARRIER FAMILY 3 (CYSTINE, DIBASIC, AND NEUTRAL AMINO ACID TRANSPORTER), MEMBER 1; SLC3A1 AMINO ACID TRANSPORTER 1; ATR1;; D2H;; RBAT
Asterisk 104615 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 1; SLC7A1 AMINO ACID TRANSPORTER, CATIONIC 1; ATRC1;; CATIONIC AMINO ACID TRANSPORTER 1; CAT1
Asterisk 104620 AMINOACYLASE 1; ACY1 N-ACYL-L-AMINO ACID AMIDOHYDROLASE;; ACYLASE
Asterisk 104640 AMPHIREGULIN; AREG SCHWANNOMA-DERIVED GROWTH FACTOR; SDGF
Asterisk 104650 AMYLASE, PANCREATIC, A; AMY2A
Asterisk 104660 AMYLASE, PANCREATIC, B; AMY2B
Asterisk 104700 AMYLASE, SALIVARY, A; AMY1A AMYLASE, SALIVARY; AMY1
Asterisk 104701 AMYLASE, SALIVARY, B; AMY1B
Asterisk 104702 AMYLASE, SALIVARY, C; AMY1C
Caret 104740 MOVED TO 602414
Asterisk 104750 SERUM AMYLOID A1; SAA1 AMYLOID A, SERUM; SAA
Asterisk 104751 SERUM AMYLOID A2; SAA2 AMYLOID A, SERUM, 2
Asterisk 104752 SERUM AMYLOID A4; SAA4 AMYLOID A, SERUM, 4;; SERUM AMYLOID A4, CONSTITUTIVE
Asterisk 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP AMYLOID OF AGING AND ALZHEIMER DISEASE; AAA;; CEREBRAL VASCULAR AMYLOID PEPTIDE; CVAP;; PROTEASE NEXIN II; PN2
Asterisk 104770 AMYLOID P COMPONENT, SERUM; APCS SERUM AMYLOID P; SAP;; PENTRAXIN 2, SHORT; PTX2
Asterisk 104775 AMYLOID BETA A4 PRECURSOR-LIKE PROTEIN 1; APLP1 AMYLOID PRECURSOR-LIKE PROTEIN 1;; AMYLOID PRECURSOR-LIKE PROTEIN; APLP
Asterisk 104776 AMYLOID BETA A4 PRECURSOR-LIKE PROTEIN 2; APLP2 AMYLOID PRECURSOR-LIKE PROTEIN 2;; CDEI-BINDING PROTEIN; CDEBP;; SPERM MEMBRANE PROTEIN
Number Sign 105120 AMYLOIDOSIS, FINNISH TYPE AMYLOIDOSIS V;; AMYLOIDOSIS, MERETOJA TYPE;; AMYLOID CRANIAL NEUROPATHY WITH LATTICE CORNEAL DYSTROPHY;; AMYLOIDOSIS DUE TO MUTANT GELSOLIN CEREBRAL AMYLOID ANGIOPATHY, GSN-RELATED, INCLUDED;; CORNEAL DYSTROPHY, LATTICE TYPE II, INCLUDED; LCD2, INCLUDED;; LATTICE CORNEAL DYSTROPHY, TYPE II, INCLUDED
Number Sign 105150 CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED AMYLOIDOSIS, CEREBROARTERIAL, ICELANDIC TYPE;; AMYLOIDOSIS VI;; HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS; HCHWA;; CEREBRAL HEMORRHAGE, HEREDITARY, WITH AMYLOIDOSIS
Number Sign 105200 AMYLOIDOSIS, FAMILIAL VISCERAL AMYLOIDOSIS VIII;; OSTERTAG TYPE AMYLOIDOSIS;; GERMAN TYPE AMYLOIDOSIS;; AMYLOIDOSIS, FAMILIAL RENAL;; AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC
Number Sign 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED;; TRANSTHYRETIN AMYLOIDOSIS;; AMYLOID POLYNEUROPATHY, FAMILIAL; FAP AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, INCLUDED;; AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED, INCLUDED
Number Sign 105250 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1 AMYLOIDOSIS, PRIMARY CUTANEOUS, 1; PCA1;; PCA;; LICHEN AMYLOIDOSIS, FAMILIAL;; AMYLOIDOSIS IX;; AMYLOIDOSIS, FAMILIAL CUTANEOUS LICHEN
NULL 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA
Number Sign 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL; FALS;; AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL DOMINANT AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE, INCLUDED;; AMYOTROPHIC LATERAL SCLEROSIS, SPORADIC, INCLUDED
Number Sign 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX OF GUAM;; GUAM DISEASE;; ALS-PDC
Number Sign 105550 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1; FTDALS1 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS; FTDALS;; FRONTOTEMPORAL DEMENTIA AND/OR MOTOR NEURON DISEASE; FTDMND;; AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA; ALSFTD
NULL 105563 ANAL SPHINCTER DYSPLASIA; ASDP
NULL 105565 ANAL SPHINCTER MYOPATHY, INTERNAL PROCTALGIA FUGAX DUE TO ANAL SPHINCTER MYOPATHY
NULL 105570 ANDROSTENONE, ABILITY TO SMELL
NULL 105580 ANAL CANAL CARCINOMA CLOACOGENIC CARCINOMA, INCLUDED
Asterisk 105590 ANAPLASTIC LYMPHOMA KINASE; ALK ALK/EML4 FUSION GENE, INCLUDED;; ALK/NPM1 FUSION GENE, INCLUDED;; ALK/RNF213 FUSION GENE, INCLUDED;; ALK/CARS FUSION GENE, INCLUDED;; ALK/CLTC FUSION GENE, INCLUDED
Percent 105600 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III; CDAN3 DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE III;; CDA III;; ANEMIA WITH MULTINUCLEATED ERYTHROBLASTS;; ERYTHRORETICULOSIS, HEREDITARY BENIGN
Number Sign 105650 DIAMOND-BLACKFAN ANEMIA 1; DBA1 DBA;; BLACKFAN-DIAMOND SYNDROME; BDS;; ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND;; ANEMIA, CONGENITAL ERYTHROID HYPOPLASTIC;; RED CELL APLASIA, PURE, HEREDITARY;; AREGENERATIVE ANEMIA, CHRONIC CONGENITAL;; ERYTHROGENESIS IMPERFECTA;; AASE-SMITH SYNDROME II;; AASE SYNDROME
Percent 105800 ANEURYSM, INTRACRANIAL BERRY, 1; ANIB1 ANEURYSMAL SUBARACHNOID HEMORRHAGE, FAMILIAL
NULL 105805 ANEURYSM OF INTERVENTRICULAR SEPTUM
Number Sign 105830 ANGELMAN SYNDROME; AS HAPPY PUPPET SYNDROME, FORMERLY ANGELMAN SYNDROME CHROMOSOME REGION, INCLUDED; ANCR, INCLUDED
NULL 105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA; ASPED
Asterisk 105850 ANGIOGENIN; ANG RIBONUCLEASE A FAMILY, 5; RNASE5
NULL 106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT
Percent 106070 ANGIOMA, HEREDITARY NEUROCUTANEOUS SPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED;; HEMANGIOMATOSIS, DISSEMINATED, INCLUDED
Number Sign 106100 ANGIOEDEMA, HEREDITARY, TYPE I; HAE1 ANGIONEUROTIC EDEMA, HEREDITARY; HANE;; C1 ESTERASE INHIBITOR, DEFICIENCY OF ANGIOEDEMA, HEREDITARY, TYPE II, INCLUDED; HAE2, INCLUDED
Plus 106150 ANGIOTENSINOGEN; AGT SERPINA8 IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO, INCLUDED;; ANGIOTENSIN I, INCLUDED;; ANGIOTENSIN II, INCLUDED
Caret 106160 MOVED TO 106165
Asterisk 106165 ANGIOTENSIN RECEPTOR 1; AGTR1 ANGIOTENSIN II RECEPTOR, VASCULAR TYPE 1; AT2R1;; ANGIOTENSIN RECEPTOR 1A; AGTR1A;; AT1R ANGIOTENSIN RECEPTOR 1B, INCLUDED; AGTR1B, INCLUDED
Plus 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE ACE1;; DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1;; KININASE II ANGIOTENSIN I-CONVERTING ENZYME, PLASMA LEVEL OF, INCLUDED;; ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE, INCLUDED;; IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO, INCLUDED;; ANGIOTENSIN I-CONVERTING ENZYME, TESTICULAR, INCLUDED
Number Sign 106190 ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS; ANHD DANN-EPSTEIN-SOHAR SYNDROME
Asterisk 106195 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 3; SLC4A3 SLC2C;; ANION EXCHANGER 3; AE3;; ANION EXCHANGER, NEURONAL
Caret 106200 MOVED TO 106210
Number Sign 106210 ANIRIDIA 1; AN1 AN;; ANIRIDIA II, FORMERLY; AN2, FORMERLY CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY, INCLUDED
NULL 106220 ANIRIDIA AND ABSENT PATELLA
NULL 106230 ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT
NULL 106240 ANISOCORIA
NULL 106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE; AFA
Number Sign 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE AEC SYNDROME;; HAY-WELLS SYNDROME
NULL 106280 ANKYLOGLOSSIA 'TONGUE-TIE'
Number Sign 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1 ANKYLOSING SPONDYLITIS, SUSCEPTIBILITY TO;; MARIE-STRUMPELL SPONDYLITIS;; BECHTEREW SYNDROME
NULL 106400 ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS, INCLUDED; DISH, INCLUDED
Asterisk 106410 ANKYRIN 2; ANK2 ANKYRIN, NONERYTHROID;; ANKYRIN, BRAIN;; ANKYRIN, NEURONAL;; ANKYRIN-B
Asterisk 106490 ANNEXIN A3; ANXA3 ANNEXIN III; ANX3;; LIPOCORTIN III
Asterisk 106491 ANNEXIN A4; ANXA4 ANNEXIN IV; ANX4;; PLACENTAL ANTICOAGULANT PROTEIN II;; ZYMOGEN GRANULE MEMBRANE-ASSOCIATED PROTEIN, 36-KD; ZAP36
NULL 106500 ANNULAR ERYTHEMA
Number Sign 106600 TOOTH AGENESIS, SELECTIVE, 1; STHAG1 HYPODONTIA/OLIGODONTIA 1; HYD1;; SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF;; TOOTH AGENESIS, FAMILIAL TOOTH AGENESIS, SELECTIVE, WITH OROFACIAL CLEFT, INCLUDED;; HYPODONTIA/OLIGODONTIA WITH OROFACIAL CLEFT, INCLUDED
Percent 106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1; TAPVR1 ANOMALOUS PULMONARY VENOUS RETURN; APVR;; SCIMITAR SYNDROME;; SCIMITAR ANOMALY
NULL 106750 ANONYCHIA WITH FLEXURAL PIGMENTATION
NULL 106900 ANONYCHIA-ECTRODACTYLY
NULL 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY
Percent 106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES COOKS SYNDROME
Percent 107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6 ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;; ANONYCHIA, PARTIAL
Percent 107100 ANORECTAL ANOMALIES
Percent 107200 ANOSMIA, ISOLATED CONGENITAL; ANIC ANOSMIA, CONGENITAL
Caret 107240 MOVED TO 116930
Number Sign 107250 ANTERIOR SEGMENT DYSGENESIS 1; ASGD1 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD;; ANTERIOR SEGMENT OCULAR DYSGENESIS; ASOD
Caret 107253 REMOVED FROM DATABASE
Asterisk 107254 ANTIGEN IDENTIFIED BY MONOCLONAL ANTIBODY 30.2A8; MIC12 LEUKOCYTE ANTIGEN MIC12
Asterisk 107257 ANTIGEN MSK3 IDENTIFIED BY MONOCLONAL ANTIBODY M68; MSK3
Asterisk 107260 ANTIGEN MSK41 IDENTIFIED BY MONOCLONAL ANTIBODY E3; MSK41
Asterisk 107265 CD19 ANTIGEN; CD19 B-LYMPHOCYTE ANTIGEN CD19
Asterisk 107266 CD22 ANTIGEN; CD22 B-CELL ANTIGEN CD22;; SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 2; SIGLEC2
Asterisk 107269 CD44 ANTIGEN; CD44 HERMES ANTIGEN;; Pgp1;; MDU3;; INLU-RELATED p80 GLYCOPROTEIN
Asterisk 107270 CD38 ANTIGEN; CD38 ADP-RIBOSYL CYCLASE/CYCLIC ADP-RIBOSE HYDROLASE;; ECTO-NICOTINAMIDE ADENINE DINUCLEOTIDE GLYCOHYDROLASE
Asterisk 107271 CD59 ANTIGEN; CD59 PROTECTIN;; HUMAN LEUKOCYTE ANTIGEN MIC11; MIC11;; SURFACE ANTIGEN RECOGNIZED BY MONOCLONAL ANTIBODY 16.3A5
Asterisk 107272 CD72 ANTIGEN; CD72 LYB2, MOUSE, HOMOLOG OF; LYB2
Asterisk 107273 CD69 ANTIGEN; CD69 EARLY T-CELL ACTIVATION ANTIGEN p60
Asterisk 107280 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 3; SERPINA3 ALPHA-1-ANTICHYMOTRYPSIN; AACT;; ANTICHYMOTRYPSIN, ALPHA-1; ACT
Asterisk 107285 SECRETORY LEUKOCYTE PROTEASE INHIBITOR; SLPI ANTILEUKOPROTEASE;; HUMAN SEMINAL PROTEINASE INHIBITOR; HUSI
Percent 107290 ANTIPYRINE METABOLISM
Asterisk 107300 SERPIN PEPTIDASE INHIBITOR, CLADE C (ANTITHROMBIN), MEMBER 1; SERPINC1 ANTITHROMBIN III; AT3;; ANTITHROMBIN;; HEPARIN COFACTOR I
Asterisk 107310 SOLUTE CARRIER FAMILY 9, MEMBER 1; SLC9A1 ANTIPORTER, SODIUM-HYDROGEN ION, AMILORIDE-SENSITIVE; APNH;; SODIUM/HYDROGEN EXCHANGER 1; NHE1;; Na+/H+ ANTIPORTER
NULL 107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL LUPUS ANTICOAGULANT, FAMILIAL
Asterisk 107323 ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ALDH7A1 ANTIQUITIN; ATQ1;; ALPHA AMINO-ADIPIC SEMIALDEHYDE DEHYDROGENASE;; ALPHA-AASA DEHYDROGENASE;; AASA DEHYDROGENASE
Asterisk 107325 CD3-EPSILON-ASSOCIATED PROTEIN; CD3EAP CD3 ANTIGEN, EPSILON-ASSOCIATED PROTEIN;; ANTISENSE ERCC1; ASE1;; POLYMERASE I-ASSOCIATED FACTOR, 49-KD, MOUSE, HOMOLOG OF; PAF49
Asterisk 107400 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 1; SERPINA1 ALPHA-1-ANTITRYPSIN; AAT;; PROTEASE INHIBITOR 1; PI;; PI1;; ANTI-ELASTASE;; ANTITRYPSIN
NULL 107410 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 2, PSEUDOGENE; SERPINA2P PROTEASE INHIBITOR 1-LIKE; PIL;; ANTITRYPSIN-RELATED PROTEIN; ATR;; ALPHA-1-ANTITRYPSIN-RELATED GENE SEQUENCE; ARGS;; SERPINA2
NULL 107440 ANTIVIRAL STATE REPRESSOR, REGULATOR OF; AVRR
Asterisk 107450 INTERFERON-ALPHA, -BETA, AND -OMEGA RECEPTOR 1; IFNAR1 IFNAR;; ANTIVIRAL PROTEIN, ALPHA-TYPE; AVP;; ANTIVIRAL PROTEIN, BETA-TYPE;; INTERFERON-ALPHA RECEPTOR;; IFRC INTERFERON-BETA RECEPTOR; IFNBR
Caret 107460 MOVED TO 107450
Asterisk 107470 INTERFERON-GAMMA RECEPTOR 1; IFNGR1 AVP, TYPE II;; ANTIVIRAL PROTEIN, TYPE II;; IMMUNE INTERFERON RECEPTOR 1;; CD119 ANTIGEN; CD119
Number Sign 107480 TOWNES-BROCKS SYNDROME 1; TBS1 RENAL-EAR-ANAL-RADIAL SYNDROME;; REAR SYNDROME;; ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;; DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED
NULL 107500 AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION
NULL 107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA
Asterisk 107580 TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A AP2;; ACTIVATING ENHANCER-BINDING PROTEIN 2-ALPHA;; AP2 TRANSCRIPTION FACTOR; AP2TF;; TFAP2
Number Sign 107600 APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC CONGENITAL DEFECT OF SKULL AND SCALP;; SCALP DEFECT, CONGENITAL
Caret 107601 MOVED TO 100300
NULL 107640 APNEA, CENTRAL SLEEP
Percent 107650 APNEA, OBSTRUCTIVE SLEEP OSA;; OBSTRUCTIVE SLEEP APNEA SYNDROME; OSAS;; SLEEP APNEA/HYPOPNEA SYNDROME; SAHS; OSAHS
Plus 107670 APOLIPOPROTEIN A-II; APOA2 APOLIPOPROTEIN A-II DEFICIENCY, INCLUDED
Plus 107680 APOLIPOPROTEIN A-I; APOA1 APOLIPOPROTEIN OF HIGH DENSITY LIPOPROTEIN APOA1 DEFICIENCY, INCLUDED;; APOA1/APOC3 FUSION GENE, INCLUDED
Asterisk 107690 APOLIPOPROTEIN A-IV; APOA4
NULL 107700 APPENDICITIS, PRONENESS TO
Asterisk 107710 APOLIPOPROTEIN C-I; APOC1
Asterisk 107720 APOLIPOPROTEIN C-III; APOC3 APOC3/APOA1 FUSION GENE, INCLUDED
Plus 107730 APOLIPOPROTEIN B; APOB APOB100, INCLUDED;; APOB48, INCLUDED;; APOLIPOPROTEIN B ALLOTYPES, INCLUDED;; Ag LIPOPROTEIN TYPES, INCLUDED;; LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4, INCLUDED; LDLCQ4, INCLUDED
Asterisk 107740 APOLIPOPROTEIN D; APOD
Asterisk 107741 APOLIPOPROTEIN E; APOE
Asterisk 107748 APEX NUCLEASE 1; APEX1 APURINIC ENDONUCLEASE; APE; APE1;; HUMAN APURINIC ENDONUCLEASE 1; HAP1;; APURINIC/APYRIMIDINIC EXONUCLEASE;; REDOX FACTOR 1; REF1
Number Sign 107750 ARBITRARY RESTRICTION POLYMORPHISM 1 ANONYMOUS RESTRICTION POLYMORPHISM 1; ARP1;; RESTRICTION FRAGMENT LENGTH POLYMORPHISM 14A;; RFLP-14A;; ARP-14A; D14S1
Asterisk 107760 APOLIPOPROTEIN F; APOF LIPID TRANSFER INHIBITOR PROTEIN; LTIP
Asterisk 107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1 LIPOPROTEIN RECEPTOR-RELATED PROTEIN; LRP;; ALPHA-2-MACROGLOBULIN RECEPTOR; A2MR;; APOLIPOPROTEIN RECEPTOR; APR;; APOLIPOPROTEIN E RECEPTOR; APOER;; CD91;; CED1, C. ELEGANS, HOMOLOG OF
Asterisk 107773 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 2; NR2F2 TRANSCRIPTION FACTOR COUP 2; TFCOUP2;; CHICKEN OVALBUMIN UPSTREAM PROMOTER TRANSCRIPTION FACTOR 2; COUPTFII;; APOLIPOPROTEIN REGULATORY PROTEIN I; ARP1
Asterisk 107776 AQUAPORIN 1; AQP1 AQUAPORIN-CHIP;; AQP-CHIP;; CHANNEL-LIKE INTEGRAL MEMBRANE PROTEIN, 28-KD; CHIP28
Asterisk 107777 AQUAPORIN 2; AQP2 AQUAPORIN-CD
NULL 107800 ARCUS CORNEAE CORNEAL ARCUS;; ARCUS SENILIS
Asterisk 107820 ARGINYL-tRNA SYNTHETASE; RARS ARGINYL-tRNA SYNTHETASE 1; RARS1;; ARGINYL-tRNA SYNTHETASE, CYTOPLASMIC
Asterisk 107830 ARGINASE 2; ARG2
Caret 107840 MOVED TO 215700
NULL 107850 ARM FOLDING PREFERENCE
NULL 107900 ARMS, MALFORMATION OF
Asterisk 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1 CYTOCHROME P450, SUBFAMILY XIX; CYP19;; AROMATASE; ARO CYP19A1/CGNL1 FUSION GENE, INCLUDED;; CYP19A1/TMOD3 FUSION GENE, INCLUDED;; CYP19A1/TRPM7 FUSION GENE, INCLUDED
NULL 107920 AROMATIC ALPHA-KETO ACID REDUCTASE ALPHA-KETO ACID REDUCTASE; KAR
Asterisk 107930 DOPA DECARBOXYLASE; DDC AROMATIC L-AMINO ACID DECARBOXYLASE; AADC
Asterisk 107940 ARRESTIN, BETA, 1; ARRB1 BETA-ARRESTIN 1; ARB1
Asterisk 107941 ARRESTIN, BETA, 2; ARRB2 BETA-ARRESTIN 2; ARB2;; BARR2
Caret 107950 MOVED TO 138800
Number Sign 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1; ARVC1 UHL ANOMALY, INCLUDED;; CARDIOMYOPATHY, RIGHT VENTRICULAR DILATED, INCLUDED
NULL 108000 ARTERIES, ANOMALIES OF
Number Sign 108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN BAVM;; CEREBRAL ARTERIOVENOUS MALFORMATIONS INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO, INCLUDED
NULL 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS
NULL 108100 ARTHRITIS, SACROILIAC
Caret 108110 MOVED TO 108120
Number Sign 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1;; ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I; AMCD1
Caret 108130 MOVED TO 601680
Caret 108140 MOVED TO 601680
Number Sign 108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;; OCULOMELIC AMYOPLASIA;; ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB
NULL 108200 ARTHROGRYPOSIS, DISTAL, TYPE 6; DA6 ARTHROGRYPOSIS AND SENSORINEURAL DEAFNESS
Number Sign 108300 STICKLER SYNDROME, TYPE I; STL1 STICKLER SYNDROME, VITREOUS TYPE 1;; STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;; ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM
NULL 108320 ARTICHOKE, MODIFICATION OF TASTE BY
Asterisk 108330 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1 CYTOCHROME P450, AROMATIC COMPOUND-INDUCIBLE;; ARYL HYDROCARBON HYDROXYLASE; AHH;; FLAVOPROTEIN-LINKED MONOOXYGENASE;; CYTOCHROME P1-450, DIOXIN-INDUCIBLE;; CYTOCHROME P1-450, INDUCIBLE BY 2,3,7,8-TETRACHLORODIBENZO-P-DIOXIN;; TCDD-INDUCIBLE CYTOCHROME P1-450; P450DX;; POLYCYCLIC AROMATIC COMPOUND-INDUCIBLE P450
Percent 108340 ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY AHH INDUCIBILITY; AHHI
Asterisk 108345 N-ACETYLTRANSFERASE 1; NAT1 ARYLAMIDE ACETYLASE 1; AAC1;; ARYLAMINE N-ACETYLTRANSFERASE 1;; ACETYL-CoA:ARYLAMINE N-ACETYLTRANSFERASE
Asterisk 108355 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2; GRB2 ASH PROTEIN;; ABUNDANT SRC HOMOLOGY
Asterisk 108360 ASIALOGLYCOPROTEIN RECEPTOR 1; ASGR1 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER H1; CLEC4H1
Asterisk 108361 ASIALOGLYCOPROTEIN RECEPTOR 2; ASGR2 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER H2; CLEC4H2
Asterisk 108370 ASPARAGINE SYNTHETASE; ASNS HUMAN COMPLEMENT FOR HAMSTER TEMPERATURE-SENSITIVE MUTANT ts11
Percent 108390 ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY
Caret 108400 REMOVED FROM DATABASE
Asterisk 108410 ASPARAGINYL-tRNA SYNTHETASE; NARS ASNRS
Percent 108420 SPERMATOGENIC FAILURE 2; SPGF2 ASPERMIOGENESIS FACTOR; ASG
NULL 108450 ASYMMETRIC SHORT STATURE SYNDROME
Number Sign 108500 EPISODIC ATAXIA, TYPE 2; EA2 ATAXIA, EPISODIC, WITH NYSTAGMUS;; EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED;; CEREBELLOPATHY, HEREDITARY PAROXYSMAL;; ATAXIA, FAMILIAL PAROXYSMAL;; ACETAZOLAMIDE-RESPONSIVE HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA; APCA;; CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE; CAPA
Number Sign 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1
Percent 108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7 SPASTIC ATAXIA WITH CONGENITAL MIOSIS;; MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA
NULL 108700 ATAXIA WITH FASCICULATIONS
Number Sign 108720 ATELOSTEOGENESIS, TYPE I; AO1 AOI;; GIANT CELL CHONDRODYSPLASIA;; SPONDYLOHUMEROFEMORAL HYPOPLASIA
Number Sign 108721 ATELOSTEOGENESIS, TYPE III; AO3 AOIII
Percent 108725 ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS ATHEROGENIC LIPOPROTEIN PHENOTYPE; ALP
Asterisk 108728 ATP CITRATE LYASE; ACLY CLATP;; ATPCL;; ACL
Asterisk 108729 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, GAMMA SUBUNIT 1; ATP5C1 ATP5C;; MITOCHONDRIAL ATP SYNTHASE, GAMMA SUBUNIT 1
Asterisk 108730 ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1; ATP2A1 SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1 SERCA1 TRUNCATED ISOFORM, INCLUDED; S1T, INCLUDED
Asterisk 108731 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 1; ATP2B1 PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 1; PMCA1
Asterisk 108732 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 4; ATP2B4 PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 4; PMCA4;; ATP2B2, FORMERLY
Asterisk 108733 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 2; ATP2B2 PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 2; PMCA2
Asterisk 108740 ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2 ATP2B;; SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2
Asterisk 108745 ATPase, H+ TRANSPORTING, LYSOSOMAL, 16-KD, V0 SUBUNIT C; ATP6V0C ATPase, H+ TRANSPORTING, LYSOSOMAL; ATP6L;; VACUOLAR PROTON PUMP, SUBUNIT C; VPPC
Asterisk 108746 ATPase, H+ TRANSPORTING, LYSOSOMAL, 31-KD, V1 SUBUNIT E, ISOFORM 1; ATP6V1E1 ATP6V1E;; ATPase, H+ TRANSPORTING, LYSOSOMAL, SUBUNIT E; ATP6E;; VACUOLAR PROTON PUMP, 31-KD SUBUNIT;; ATP6E2; E2
Percent 108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTIVE DEAFNESS
Number Sign 108770 ATRIAL STANDSTILL 1; ATRST1 ATRIAL CARDIOMYOPATHY WITH HEART BLOCK;; CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE
Asterisk 108780 NATRIURETIC PEPTIDE PRECURSOR A; NPPA ATRIAL NATRIURETIC POLYPEPTIDES; ANP;; CARDIONATRIN;; ATRIONATRIURETIC FACTOR;; ATRIAL NATRIURETIC FACTOR; ANF;; PRONATRIODILATIN; PND;; ATRIOPEPTIN
Percent 108800 ATRIAL SEPTAL DEFECT 1; ASD1 ASD ATRIAL SEPTAL DEFECT, PRIMUM TYPE, INCLUDED;; ASD I, INCLUDED;; ATRIAL SEPTAL DEFECT, SECUNDUM TYPE, INCLUDED;; ASD II, INCLUDED
Number Sign 108900 ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; ASD7 ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
NULL 108950 ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL
Asterisk 108960 NATRIURETIC PEPTIDE RECEPTOR A/GUANYLATE CYCLASE A; NPR1 ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE A; ANPRA; NPRA;; ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE A;; GUANYLYL CYCLASE 2A; GUC2A
Asterisk 108961 NATRIURETIC PEPTIDE RECEPTOR 2; NPR2 GUANYLATE CYCLASE B; GCB;; GUC2B; GUCY2B;; ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B; ANPRB;; ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE B; NPRB;; ANPB RECEPTOR
Asterisk 108962 NATRIURETIC PEPTIDE RECEPTOR C; NPR3 ATRIAL NATRIURETIC PEPTIDE CLEARANCE RECEPTOR; ANPRC;; ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE C
Caret 108970 MOVED TO 120520
Percent 108980 PR INTERVAL, VARIATION IN ATRIOVENTRICULAR CONDUCTION TIME, VARIATION IN
Number Sign 108985 SVEINSSON CHORIORETINAL ATROPHY; SCRA ATROPHIA AREATA; AA;; PERIPAPILLARY CHORIORETINAL DEGENERATION, ICELANDIC TYPE;; HELICOIDAL PERIPAPILLARY CHORIORETINAL DEGENERATION; HPCD
Asterisk 108990 ATTACHED CELL ANTIGEN 28.3.7; MIC7
Percent 109000 AURICULOOSTEODYSPLASIA
NULL 109050 AUROCEPHALOSYNDACTYLY AURALCEPHALOSYNDACTYLY
Asterisk 109090 SJOGREN SYNDROME ANTIGEN B; SSB AUTOANTIGEN La;; La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 3; LARP3
Asterisk 109091 CALRETICULIN; CALR CRT;; AUTOANTIGEN Ro; RO;; COMPLEMENT COMPONENT C1q RECEPTOR; CC1QR
Asterisk 109092 TRIPARTITE MOTIF-CONTAINING PROTEIN 21; TRIM21 SJOGREN SYNDROME ANTIGEN A1; SSA1;; SICCA SYNDROME ANTIGEN A; SSA;; AUTOANTIGEN Ro/SSA, 52-KD; RO52
Number Sign 109100 AUTOIMMUNE DISEASE
Asterisk 109110 AUTONOMOUSLY REPLICATING SEQUENCE 1 ARS1
NULL 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES DE HAUWERE SYNDROME;; IRIS DYSPLASIA WITH OCULAR HYPERTELORISM, PSYCHOMOTOR RETARDATION, AND SENSORINEURAL DEAFNESS
NULL 109130 AXIAL OSTEOMALACIA
Asterisk 109135 AXL RECEPTOR TYROSINE KINASE; AXL ONCOGENE AXL;; AXL TRANSFORMING GENE
Number Sign 109150 MACHADO-JOSEPH DISEASE; MJD SPINOCEREBELLAR ATAXIA 3; SCA3;; SPINOCEREBELLAR ATROPHY III;; AZOREAN NEUROLOGIC DISEASE;; SPINOPONTINE ATROPHY;; NIGROSPINODENTATAL DEGENERATION
Percent 109160 AZOTEMIA, FAMILIAL
Asterisk 109170 LEUKOCYTE-SPECIFIC TRANSCRIPT 1; LST1 B144 PROTEIN;; D6S49E
NULL 109180 BABOON M7 VIRUS INTEGRATION SITE; BEVI
Asterisk 109190 SOLUTE CARRIER FAMILY 1 (NEUTRAL AMINO ACID TRANSPORTER), MEMBER 5; SLC1A5 NEUTRAL AMINO ACID TRANSPORTER-LIKE PROTEIN;; BABOON M7 VIRUS RECEPTOR; M7V1; M7VS1;; RD114 VIRUS RECEPTOR; RDRC;; RD114 SENSITIVITY
Asterisk 109195 BACTERICIDAL PERMEABILITY-INCREASING PROTEIN; BPI
Percent 109200 ALOPECIA, ANDROGENETIC, 1; AGA1 ANDROGENETIC ALOPECIA; AGA BALDNESS, MALE PATTERN, INCLUDED; MPB, INCLUDED
Plus 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1 BAND 3 OF RED CELL MEMBRANE; BND3;; ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;; ERYTHROID PROTEIN BAND 3; EPB3;; ANION EXCHANGE PROTEIN 1; AE1 ACANTHOCYTOSIS, ONE FORM OF, INCLUDED
Asterisk 109280 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 2; SLC4A2 ANION EXCHANGER, NONERYTHROID; AE2;; ERYTHROCYTE MEMBRANE PROTEIN BAND 3-LIKE 1; EPB3L1;; BAND 3-LIKE PROTEIN; BND3L;; NONERYTHROID BAND 3; NBND3;; HKB3
NULL 109300 BANKI SYNDROME
Percent 109350 GASTROESOPHAGEAL REFLUX; GER GASTROESOPHAGEAL REFLUX DISEASE; GERD;; GASTROESOPHAGEAL REFLUX, PEDIATRIC
Caret 109390 MOVED TO 301845
Number Sign 109400 BASAL CELL NEVUS SYNDROME; BCNS GORLIN SYNDROME;; GORLIN-GOLTZ SYNDROME;; NEVOID BASAL CELL CARCINOMA SYNDROME; NBCCS;; MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
Asterisk 109480 BASIGIN; BSG TCSF;; EXTRACELLULAR MATRIX METALLOPROTEINASE INDUCER; EMMPRIN;; M6 LEUKOCYTE ACTIVATION ANTIGEN; M6;; CD147 ANTIGEN; CD147
Percent 109500 BASILAR IMPRESSION, PRIMARY
Asterisk 109530 CD48 ANTIGEN; CD48 B-CELL ACTIVATION MARKER; BCM1; BLAST1;; SLAM FAMILY, MEMBER 2; SLAMF2
Asterisk 109535 CD40 ANTIGEN; CD40 B CELL-ASSOCIATED MOLECULE CD40;; TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5; TNFRSF5
NULL 109540 B-CELL GROWTH FACTOR; BCGF B-CELL GROWTH FACTOR 1; BCGF1
Percent 109543 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 2 CLLS2;; B-CELL MALIGNANCY, LOW-GRADE;; DISRUPTED IN B-CELL MALIGNANCY; DBM;; LEUKEMIA, CHRONIC LYMPHOCYTIC, B-CELL; BCLL
Asterisk 109545 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 17; TNFRSF17 B-CELL MATURATION FACTOR; BCMA; BCM
Asterisk 109560 B-CELL LEUKEMIA/LYMPHOMA 3; BCL3 BCL4, FORMERLY
Asterisk 109565 B-CELL LYMPHOMA 6; BCL6 ZINC FINGER PROTEIN 51; ZNF51;; LYMPHOMA-ASSOCIATED ZINC FINGER GENE ON CHROMOSOME 3; LAZ3 BCL6/H4FM FUSION GENE, INCLUDED;; BCL6/IKAROS FUSION GENE, INCLUDED;; BCL6/LCP1 FUSION GENE, INCLUDED;; BLC6/IL21R FUSION GENE, INCLUDED
Asterisk 109580 B-CELL TRANSLOCATION GENE 1; BTG1
NULL 109600 BEETURIA BETACYANINURIA
Asterisk 109610 TRANSLOCATOR PROTEIN, 18-KD; TSPO BENZODIAZEPINE RECEPTOR, PERIPHERAL; BZRP; PBR;; BENZODIAZEPINE PERIPHERAL BINDING SITE; PBS; BPBS;; ISOQUINOLINE CARBOXAMIDE-BINDING PROTEIN
Plus 109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1 ADRB1R;; B1AR CONGESTIVE HEART FAILURE AND BETA-BLOCKER RESPONSE, MODIFIER OF, INCLUDED
Asterisk 109635 BETA-ADRENERGIC RECEPTOR KINASE 1; ADRBK1 BARK1;; BETA-ARK1;; G PROTEIN-DEPENDENT RECEPTOR KINASE 2; GRK2
Asterisk 109636 BETA-ADRENERGIC RECEPTOR KINASE 2; ADRBK2 BARK2;; GRK3
Asterisk 109640 BETA-GLYCEROL PHOSPHATASE; GPB
Percent 109650 BEHCET SYNDROME BEHCET DISEASE; BD
Percent 109660 BETA-AMINO ACIDS, RENAL TRANSPORT OF; AABT TAURINE RENAL REABSORPTION
NULL 109670 BETA-ADRENERGIC STIMULATION, RESPONSE TO; BAS
Asterisk 109675 ST6 BETA-GALACTOSAMIDE ALPHA-2,6-SIALYLTRANSFERASE 1; ST6GAL1 ST6GALI;; SIALYLTRANSFERASE 1; SIAT1;; ST6N
Asterisk 109684 17-BETA-HYDROXYSTEROID DEHYDROGENASE I; HSD17B1 17-BETA-HSD I;; ESTRADIOL 17-BETA-DEHYDROGENASE II; EDH17B2
Asterisk 109685 17-BETA-HYDROXYSTEROID DEHYDROGENASE II; HSD17B2 17-BETA-HSD II
Plus 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2 BETA-ADRENERGIC RECEPTOR; ADRBR;; BETA-2-ADRENOCEPTOR; BAR; B2AR;; ADRB2R BETA-2-ADRENORECEPTOR AGONIST, REDUCED RESPONSE TO, INCLUDED
Asterisk 109691 BETA-3-ADRENERGIC RECEPTOR; ADRB3
Asterisk 109700 BETA-2-MICROGLOBULIN; B2M
Asterisk 109710 BETA-2-MICROGLOBULIN REGULATOR; B2MR
Asterisk 109715 3-BETA-HYDROXYSTEROID DEHYDROGENASE 1; HSD3B1 3-BETA-HYDROXYSTEROID DEHYDROGENASE/DELTA-ISOMERASE, TYPE I;; 3-BETA-HSD, PLACENTAL TYPE
Percent 109720 BILIARY CIRRHOSIS, PRIMARY, 1; PBC1 PBC
Number Sign 109730 AORTIC VALVE DISEASE 1; AOVD1 AORTIC VALVE DISEASE;; BICUSPID AORTIC VALVE; BAV;; AORTIC VALVE, BICUSPID;; AORTIC VALVE, CALCIFICATION OF;; AORTIC STENOSIS, CALCIFIC
NULL 109740 BIFID NOSE, AUTOSOMAL DOMINANT
Asterisk 109750 BILIVERDIN REDUCTASE A; BLVRA BILIVERDIN IX-ALPHA REDUCTASE;; BVR;; BLVR;; BVRA
Asterisk 109760 5-HYDROXYTRYPTAMINE RECEPTOR 1A; HTR1A SEROTONIN 5-HT-1A RECEPTOR;; BETA-2-ADRENERGIC RECEPTOR-LIKE PROTEIN G-21
Asterisk 109770 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 1; CEACAM1 BILIARY GLYCOPROTEIN; BGP;; BILIARY GLYCOPROTEIN 1; BGP1;; CD66 ANTIGEN; CD66 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE PSEUDOGENES, INCLUDED;; CEACAMPS, INCLUDED
Asterisk 109780 BKM DNA BANDED KRAIT MINOR SATELLITE DNA; BKMA1 BKMA2, INCLUDED
Number Sign 109800 BLADDER CANCER
NULL 109820 BLADDER DIVERTICULUM
NULL 109900 BLEPHAROCHALASIS AND DOUBLE LIP ASCHER SYNDROME
NULL 110000 BLEPHAROCHALASIS, SUPERIOR
NULL 110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME PASHAYAN SYNDROME
Number Sign 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES BPES, TYPE I, INCLUDED;; BPES WITH OVARIAN FAILURE, INCLUDED;; BPES, TYPE II, INCLUDED;; BPES WITHOUT OVARIAN FAILURE, INCLUDED;; BPES WITH DUANE RETRACTION SYNDROME, INCLUDED
NULL 110150 BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS
NULL 110250 BLOOD GROUP--ABO SUPPRESSOR
Asterisk 110300 ABO GLYCOSYLTRANSFERASE; ABO ABO HISTO-BLOOD GROUP GLYCOSYLTRANSFERASES TRANSFERASE A, ALPHA 1-3-N-ACETYLGALACTOSAMINYLTRANSFERASE, INCLUDED;; TRANSFERASE B, ALPHA 1-3-GALACTOSYLTRANSFERASE, INCLUDED
NULL 110310 BLOOD GROUP--ABH ANTIGEN, TYPE 2
Percent 110350 BLOOD GROUP--AHONEN; AN
Number Sign 110450 BLOOD GROUP, COLTON SYSTEM; CO COLTON BLOOD GROUP SYSTEM COLTON-NULL PHENOTYPE, INCLUDED
Number Sign 110500 BLOOD GROUP, DIEGO SYSTEM; DI DIEGO BLOOD GROUP SYSTEM
Asterisk 110600 ADP-RIBOSYLTRANSFERASE 4; ART4 DOK1
Number Sign 110700 BLOOD GROUP, DUFFY SYSTEM; FY DUFFY BLOOD GROUP SYSTEM PLASMODIUM VIVAX, RESISTANCE TO, INCLUDED
NULL 110720 BLOOD GROUP--En
Asterisk 110750 GLYCOPHORIN C; GYPC GPC;; SIALOGLYCOPROTEIN, BETA GLYCOPHORIN D, INCLUDED; GYPD, INCLUDED; GPD, INCLUDED;; SIALOGLYCOPROTEIN, GAMMA, INCLUDED
Number Sign 110800 BLOOD GROUP, I SYSTEM; Ii I BLOOD GROUP SYSTEM;; Ii BLOOD GROUP SYSTEM ADULT i PHENOTYPE, INCLUDED
Number Sign 110900 BLOOD GROUP--KELL SYSTEM; KEL BLOOD GROUP--KELL-CELLANO SYSTEM KELL-NULL, INCLUDED;; K(0), INCLUDED;; Ko, INCLUDED
Number Sign 111000 BLOOD GROUP, KIDD SYSTEM; JK KIDD BLOOD GROUP SYSTEM
Plus 111100 FUCOSYLTRANSFERASE 3; FUT3 LEWIS ENZYME BLOOD GROUP--LEWIS SYSTEM, INCLUDED; Le, INCLUDED;; Les, INCLUDED
Percent 111130 BLOOD GROUP--LKE; LKE BLOOD GROUP--LUKE, FORMERLY
Number Sign 111150 BLOOD GROUP--LUTHERAN INHIBITOR; INLU DOMINANT LU (a-b-) PHENOTYPE
Number Sign 111200 BLOOD GROUP--LUTHERAN SYSTEM; LU AUBERGER SYSTEM, INCLUDED; AU, INCLUDED
Number Sign 111250 BLOOD GROUP SYSTEM, LANDSTEINER-WIENER; LW LANDSTEINER-WIENER BLOOD GROUP SYSTEM
Number Sign 111300 BLOOD GROUP, MN; MN MN BLOOD GROUP BLOOD GROUP, MNSs SYSTEM, INCLUDED;; MNSs BLOOD GROUP SYSTEM, INCLUDED
NULL 111360 BLOOD GROUP--NEWFOUNDLAND; NFLD
Number Sign 111380 BLOOD GROUP--OK; OK
Number Sign 111400 BLOOD GROUP, P1PK SYSTEM P(1) PHENOTYPE, INCLUDED;; P(2) PHENOTYPE, INCLUDED;; P1(k) PHENOTYPE, INCLUDED;; P2(k) PHENOTYPE, INCLUDED;; p PHENOTYPE, INCLUDED;; NOR POLYAGGLUTINATION SYNDROME, INCLUDED
Caret 111410 MOVED TO 111400
Number Sign 111500 BLOOD GROUP--PRIVATE SYSTEMS ANTIGENIC DETERMINANTS OF LOW FREQUENCY IN THE POPULATION
Number Sign 111600 BLOOD GROUP, LANGEREIS SYSTEM; LAN
Number Sign 111620 RADIN BLOOD GROUP ANTIGEN; RD BLOOD GROUP--RADIN ANTIGEN
Asterisk 111680 RHESUS BLOOD GROUP, D ANTIGEN; RHD BLOOD GROUP--RHESUS SYSTEM D POLYPEPTIDE
Number Sign 111690 BLOOD GROUP--RHESUS SYSTEM E POLYPEPTIDE; RHE
Plus 111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE BLOOD GROUP--RHESUS SYSTEM Cc/Ee POLYPEPTIDE;; RHC;; RHE RH-NULL DISEASE, AMORPH TYPE, INCLUDED
Asterisk 111730 BETA-1,4-N-ACETYL-GALACTOSAMINYLTRANSFERASE 2; B4GALNT2 GALGT2;; CT-GalNAc TRANSFERASE
Number Sign 111740 BLOOD GROUP, Ss; Ss Ss BLOOD GROUP
Number Sign 111750 BLOOD GROUP--SCIANNA SYSTEM; SC SCIANNA BLOOD GROUP
Percent 111800 BLOOD GROUP--STOLTZFUS SYSTEM; Sf
Percent 112000 BLOOD GROUP--Ul SYSTEM; UL
Number Sign 112010 BLOOD GROUP--WALDNER TYPE; WD WALDNER BLOOD GROUP ANTIGEN
Number Sign 112050 BLOOD GROUP--WRIGHT ANTIGEN; WR WRIGHT BLOOD GROUP ANTIGEN
Number Sign 112100 YT BLOOD GROUP ANTIGEN CARTWRIGHT ANTIGEN
Percent 112200 BLUE RUBBER BLEB NEVUS BEAN SYNDROME
Asterisk 112203 CD80 ANTIGEN; CD80 CD28 ANTIGEN LIGAND 1; CD28LG1;; B-LYMPHOCYTE ACTIVATION ANTIGEN B7-1; LAB7;; B71 ANTIGEN
Asterisk 112205 CD79A ANTIGEN; CD79A IMMUNOGLOBULIN-ASSOCIATED ALPHA; IGA;; B LYMPHOCYTE-SPECIFIC MB1 PROTEIN; MB1;; MEMBRANE-BOUND IMMUNOGLOBULIN IgM-ALPHA
Asterisk 112210 MEMBRANE-SPANNING 4 DOMAINS, SUBFAMILY A, MEMBER 1; MS4A1 B-LYMPHOCYTE SURFACE ANTIGEN B1; B1;; CD20
Number Sign 112240 COLE-CARPENTER SYNDROME 1; CLCRP1 BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES
Number Sign 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH BONE DYSPLASIA WITH MEDULLARY FIBROSARCOMA; BDMF;; BONE DYSPLASIA WITH MALIGNANT FIBROUS HISTIOCYTOMA;; MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY
Asterisk 112260 GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, BONE; BGLAP BONE GAMMA-CARBOXYGLUTAMIC ACID PROTEIN;; BONE Gla PROTEIN; BGP;; OSTEOCALCIN; OC
Asterisk 112261 BONE MORPHOGENETIC PROTEIN 2; BMP2 BONE MORPHOGENETIC PROTEIN 2A; BMP2A REGULATORY ELEMENT, CIS-ACTING, ENHANCER, 110 KB DOWNSTREAM OF BMP2, INCLUDED; RECE-BMP2, INCLUDED
Asterisk 112262 BONE MORPHOGENETIC PROTEIN 4; BMP4 BONE MORPHOGENETIC PROTEIN 2B; BMP2B;; BMP2B1
Asterisk 112263 BONE MORPHOGENETIC PROTEIN 3; BMP3 OSTEOGENIN
Asterisk 112264 BONE MORPHOGENETIC PROTEIN 1; BMP1 TOLLOID, DROSOPHILA, HOMOLOG OF; TLD;; PROCOLLAGEN C-PROTEINASE
Asterisk 112265 BONE MORPHOGENETIC PROTEIN 5; BMP5
Asterisk 112266 BONE MORPHOGENETIC PROTEIN 6; BMP6 VG1-RELATED SEQUENCE; VGR1
Asterisk 112267 BONE MORPHOGENETIC PROTEIN 7; BMP7 OSTEOGENIC PROTEIN 1; OP1
NULL 112270 BONE PAIN, PERIODIC
Percent 112300 BOOK SYNDROME PHC SYNDROME
Number Sign 112310 BOOMERANG DYSPLASIA
Percent 112350 WEISMANN-NETTER SYNDROME; WNS BOWING OF LEGS, ANTERIOR, WITH DWARFISM;; TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE
NULL 112370 BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUS ADDUCTUS, AND DEVELOPMENTAL DELAY
Number Sign 112410 HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB BRACHYDACTYLY WITH HYPERTENSION;; BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION;; BILGINTURAN SYNDROME
NULL 112430 LONG-THUMB BRACHYDACTYLY SYNDROME BRACHYDACTYLY, LONG-THUMB TYPE
Percent 112440 BRACHYDACTYLY, COMBINED B AND E TYPES PITT-WILLIAMS BRACHYDACTYLY;; BRACHYDACTYLY, BALLARD TYPE
NULL 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION CHRISTIAN BRACHYDACTYLY
Number Sign 112500 BRACHYDACTYLY, TYPE A1; BDA1 FARABEE-TYPE BRACHYDACTYLY
Number Sign 112600 BRACHYDACTYLY, TYPE A2; BDA2 BRACHYMESOPHALANGY II;; MOHR-WRIEDT TYPE BRACHYDACTYLY
Percent 112700 BRACHYDACTYLY, TYPE A3; BDA3 BRACHYMESOPHALANGY V;; BRACHYDACTYLY-CLINODACTYLY
Percent 112800 BRACHYDACTYLY, TYPE A4; BDA4 BRACHYMESOPHALANGY II AND V;; TEMTAMY TYPE BRACHYDACTYLY
Caret 112900 MOVED TO 112800
NULL 112910 OSEBOLD-REMONDINI SYNDROME BRACHYMESOPHALANGY WITH MESOMELIC SHORT LIMBS AND CARPAL AND TARSAL OSSEOUS ABNORMALITIES;; BRACHYDACTYLY, TYPE A6; BDA6
Number Sign 113000 BRACHYDACTYLY, TYPE B1; BDB1 BRACHYDACTYLY, TYPE B; BDB
Number Sign 113100 BRACHYDACTYLY, TYPE C; BDC BRACHYDACTYLY, HAWS TYPE
Number Sign 113200 BRACHYDACTYLY, TYPE D; BDD STUB THUMB
Number Sign 113300 BRACHYDACTYLY, TYPE E1; BDE1 BRACHYDACTYLY, TYPE E; BDE
NULL 113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II
NULL 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA
NULL 113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA
NULL 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME
NULL 113470 BRACHYMESOMELIA-RENAL SYNDROME
NULL 113475 BRACHYMETATARSUS IV METATARSUS IV, SHORT;; TOE, FOURTH, SHORT
NULL 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME BOD SYNDROME
NULL 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME
Number Sign 113500 BRACHYOLMIA TYPE 3; BCYM3 BRACHYOLMIA, AUTOSOMAL DOMINANT;; BRACHYRACHIA
Asterisk 113503 BRADYKININ RECEPTOR B2; BDKRB2 BRADYKININ RECEPTOR 2; BKR2
Asterisk 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF
Asterisk 113508 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, ETA ISOFORM; YWHAH BRAIN PROTEIN 14-3-3, ETA ISOFORM;; TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN 1; YWHA1;; 14-3-3-ETA
Asterisk 113510 BRAIN-SPECIFIC PROTEIN Pc-1 DUARTE BRAIN-SPECIFIC PROTEIN
Asterisk 113520 BRANCHED-CHAIN AMINOTRANSFERASE 1; BCAT1 BCT1;; PLACENTAL PROTEIN 18; PP18 P3, INCLUDED
Asterisk 113530 BRANCHED-CHAIN AMINOTRANSFERASE 2; BCAT2 BCT2
NULL 113600 BRANCHIAL CLEFT ANOMALIES BRANCHIAL CYSTS, INCLUDED
NULL 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA
Number Sign 113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS BOF SYNDROME;; BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE NASOLACRIMAL DUCT, AND PREMATURE AGING;; HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;; LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME
Caret 113630 MOVED TO 151410
Caret 113640 MOVED TO 151410
Number Sign 113650 BRANCHIOOTORENAL SYNDROME 1; BOR1 BRANCHIOOTORENAL DYSPLASIA;; MELNICK-FRASER SYNDROME
Caret 113660 MOVED TO 151410
Percent 113670 HYPERTROPHY OF THE BREAST, JUVENILE; JHB GIGANTOMASTIA, JUVENILE
Percent 113700 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1 AMASTIA;; ATHELIA;; AMAZIA
Asterisk 113703 RIBOSOMAL PROTEIN L13; RPL13 BREAST BASIC CONSERVED GENE 1; BBC1;; D16S444E
Asterisk 113705 BREAST CANCER 1 GENE; BRCA1
Asterisk 113710 TREFOIL FACTOR 1; TFF1 BREAST CANCER ESTROGEN-INDUCIBLE SEQUENCE; BCEI;; GASTROINTESTINAL TREFOIL PROTEIN pS2; pS2
Asterisk 113720 BREAST CANCER-ASSOCIATED DF3 ANTIGEN
NULL 113721 BREAST CANCER-RELATED REGULATOR OF TP53 BCPR;; BREAST CANCER SUPPRESSOR
Asterisk 113725 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 2; POU4F2 POU-DOMAIN TRANSCRIPTION FACTOR BRN3B; BRN3B;; BRN3.2, MOUSE, HOMOLOG OF
Asterisk 113730 UNCOUPLING PROTEIN 1; UCP1 UCP;; BROWN ADIPOSE TISSUE UNCOUPLING PROTEIN;; THERMOGENIN
Number Sign 113750 ALBINISM, OCULOCUTANEOUS, TYPE VI; OCA6 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4, INCLUDED; SHEP4, INCLUDED;; SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN, INCLUDED
Number Sign 113800 EPIDERMOLYTIC HYPERKERATOSIS; EHK BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ;; BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; BCIE;; BULLOUS ICHTHYOSIFORM ERYTHRODERMA; BIE;; EPIDERMOLYTIC ICHTHYOSIS EPIDERMOLYTIC HYPERKERATOSIS, LATE-ONSET, INCLUDED
Asterisk 113810 DYSTONIN; DST DYSTONIA MUSCULORUM, MOUSE, HOMOLOG OF; DMH; DT;; BULLOUS PEMPHIGOID ANTIGEN 1; BPAG1;; BP240
Asterisk 113811 COLLAGEN, TYPE XVII, ALPHA-1; COL17A1 BULLOUS PEMPHIGOID ANTIGEN 2; BPAG2;; BP180
Number Sign 113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A PFHBIA;; HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI;; LENEGRE-LEV DISEASE;; CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD;; BUNDLE BRANCH BLOCK;; HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBD HEART BLOCK, NONPROGRESSIVE, INCLUDED;; CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED
Percent 113950 BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT
Asterisk 113955 BUNGAROTOXIN, ALPHA, RECEPTOR FOR; BGTXR
NULL 113960 BUTYRYLESTERASE 1
Number Sign 113970 BURKITT LYMPHOMA; BL
Asterisk 113995 COMPLEMENT COMPONENT 5a RECEPTOR 1; C5AR1 COMPLEMENT COMPONENT 5 RECEPTOR 1; C5R1;; C5a ANAPHYLATOXIN RECEPTOR; C5AR;; CD88 ANTIGEN; CD88
Number Sign 114000 CAFFEY DISEASE INFANTILE CORTICAL HYPEROSTOSIS
Asterisk 114010 CARBAMOYL PHOSPHATE SYNTHETASE/ASPARTATE TRANSCARBAMOYLASE/DIHYDROOROTASE; CAD CAD TRIFUNCTIONAL PROTEIN;; CPSase/ATCase/DHOase
Asterisk 114019 CADHERIN 15; CDH15 CADHERIN, MUSCLE;; M-CADHERIN; MCAD;; CDHM;; CDH14, FORMERLY;; CDH3, FORMERLY
Asterisk 114020 CADHERIN 2; CDH2 CADHERIN, NEURONAL;; N-CADHERIN; NCAD;; CALCIUM-DEPENDENT ADHESION PROTEIN, NEURONAL; CDHN
Asterisk 114021 CADHERIN 3; CDH3 CADHERIN, PLACENTAL;; P-CADHERIN; PCAD;; CALCIUM-DEPENDENT ADHESION PROTEIN, PLACENTAL;; CDHP
Asterisk 114025 CATENIN, ALPHA-2; CTNNA2 ALPHA-N-CATENIN;; CADHERIN-ASSOCIATED PROTEIN, RELATED; CAPR
NULL 114030 CAFE-AU-LAIT SPOTS, MULTIPLE
Asterisk 114050 CALBINDIN 1; CALB1 CALB;; CALBINDIN, 28-KD
Asterisk 114051 CALBINDIN 2; CALB2 CALBINDIN, 29-KD;; CALBINDIN D29K;; CALRETININ
NULL 114065 CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL
Asterisk 114070 ANNEXIN A6; ANXA6 ANNEXIN VI; ANX6;; CALCIUM-BINDING PROTEIN p68;; CALELECTRIN
Asterisk 114078 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE TYPE IIA
Asterisk 114080 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IV; CAMK4 BRAIN Ca(2+)/CALMODULIN-DEPENDENT PROTEIN KINASE TYPE IV
Asterisk 114085 S100 CALCIUM-BINDING PROTEIN A10; S100A10 CALPACTIN I, LIGHT CHAIN; CAL1L;; CALPACTIN I, p11 SUBUNIT; CLP11;; ANNEXIN II LIGAND; ANX2LG;; ANNEXIN II, LIGHT CHAIN;; p11
Asterisk 114090 CALPASTATIN; CAST
Percent 114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET IBGC, CHILDHOOD-ONSET;; STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;; CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET
Asterisk 114105 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP3CA CALCINEURIN A; CALNA; CANA;; CALCINEURIN A1; CALNA1;; CALCINEURIN A-ALPHA;; CNA-ALPHA;; PROTEIN PHOSPHATASE 2B, CATALYTIC SUBUNIT, ALPHA ISOFORM, FORMERLY; PPP2B, FORMERLY
Asterisk 114106 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, BETA ISOFORM; PPP3CB CALCINEURIN A-BETA;; CNA-BETA;; CALCINEURIN A2; CALNA2;; CALCINEURIN B, FORMERLY; CALNB, FORMERLY;; PROTEIN PHOSPHATASE 2B, CATALYTIC SUBUNIT, BETA ISOFORM, FORMERLY
Asterisk 114107 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC CALCINEURIN A3; CALNA3;; CALCINEURIN A-GAMMA;; CALCINEURIN, TESTIS-SPECIFIC CATALYTIC SUBUNIT;; PROTEIN PHOSPHATASE 2B, CATALYTIC SUBUNIT, GAMMA ISOFORM, FORMERLY
Asterisk 114110 S100 CALCIUM-BINDING PROTEIN A6; S100A6 CALCYCLIN; CACY
Caret 114120 MOVED TO 211900
Asterisk 114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA CALCITONIN; CALC1; CT CALCITONIN GENE-RELATED PEPTIDE, INCLUDED; CGRP, INCLUDED;; KATACALCIN, INCLUDED
Asterisk 114131 CALCITONIN RECEPTOR; CALCR CTR; CTR1
Percent 114140 CALLOSITIES, HEREDITARY PAINFUL CALLOSITIES, PAINFUL PLANTAR
Percent 114150 CAMPTOBRACHYDACTYLY
Asterisk 114160 CALCITONIN-RELATED POLYPEPTIDE, BETA; CALCB CALCITONIN GENE-RELATED PEPTIDE-2; CGRP2; CALC2
Asterisk 114170 CALPAIN, SMALL SUBUNIT 1; CAPNS1 CALPAIN 4; CAPN4;; CANPS;; CALCIUM-DEPENDENT PROTEASE, SMALL SUBUNIT; CDPS
Asterisk 114180 CALMODULIN 1; CALM1 PHOSPHORYLASE KINASE, DELTA SUBUNIT; PHKD
Caret 114181 MOVED TO 114180
Asterisk 114182 CALMODULIN 2; CALM2 PHKD2
Asterisk 114183 CALMODULIN 3; CALM3 PHKD3
Asterisk 114184 CALMODULIN-LIKE 3; CALML3 CALMODULIN-LIKE PROTEIN; CLP
Asterisk 114190 CALCITONIN RECEPTOR-LIKE GENE; CALCRL CALCITONIN RECEPTOR-LIKE RECEPTOR; CRLR;; CALCITONIN GENE-RELATED PEPTIDE RECEPTOR; CGRPR
Percent 114200 CAMPTODACTYLY 1; CAMPD1 CAMPTODACTYLY AND KNUCKLE PADS STREBLODACTYLY, INCLUDED
Asterisk 114204 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 1; CACNA2D1 CALCIUM CHANNEL, L TYPE, ALPHA-2 POLYPEPTIDE; CACNL2A;; CALCIUM CHANNEL, ALPHA-2/DELTA SUBUNIT
Asterisk 114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE; CACNL1A1;; CCHL1A1;; CaV1.2;; CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;; DHPR, ALPHA-1 SUBUNIT;; CACH2
Asterisk 114206 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1D SUBUNIT; CACNA1D CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 2; CACNL1A2;; CALCIUM CHANNEL, NEUROENDOCRINE/BRAIN-TYPE, ALPHA-1 SUBUNIT
Asterisk 114207 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-1 SUBUNIT; CACNB1 CALCIUM CHANNEL, L TYPE, BETA-1 POLYPEPTIDE; CACNLB1;; CALCIUM CHANNEL, NEURONAL DIHYDROPYRIDINE-SENSITIVE, BETA SUBUNIT; CCHLB;; CCHLB1
Asterisk 114208 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL MUSCLE; CACNL1A3;; CCHL1A3;; CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;; CaV.1
Asterisk 114209 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-1 SUBUNIT; CACNG1 CALCIUM CHANNEL, L TYPE, GAMMA POLYPEPTIDE; CACNLG;; CALCIUM CHANNEL, NEURONAL DIHYDROPYRIDINE-SENSITIVE, GAMMA SUBUNIT
Asterisk 114210 S100 CALCIUM-BINDING PROTEIN A4; S100A4 CALCIUM PLACENTAL PROTEIN; CAPL;; FIBROBLAST-SPECIFIC PROTEIN 1; FSP1
Asterisk 114212 CALCYPHOSINE; CAPS
Asterisk 114213 CALDESMON 1; CALD1 CDM
Asterisk 114217 CALNEXIN; CANX CNX
Asterisk 114220 CALPAIN 1; CAPN1 CALPAIN, LARGE POLYPEPTIDE L1;; CALPAIN I, LARGE SUBUNIT; CANPL1;; CALCIUM-ACTIVATED NEUTRAL PROTEASE 1, CATALYTIC SUBUNIT; CANP1;; CALCIUM-ACTIVATED NEUTRAL PROTEASE, MU, LARGE SUBUNIT;; MU-CANP, LARGE SUBUNIT;; CALPAIN, MU, LARGE SUBUNIT;; MU-CALPAIN, LARGE SUBUNIT;; MU-CAPN, LARGE SUBUNIT
Asterisk 114230 CALPAIN 2; CAPN2 CALPAIN, LARGE POLYPEPTIDE L2;; CALPAIN II, LARGE SUBUNIT; CANPL2;; CALCIUM-ACTIVATED NEUTRAL PROTEASE 2, CATALYTIC SUBUNIT; CANP2
Asterisk 114240 CALPAIN 3; CAPN3 CALPAIN, LARGE POLYPEPTIDE L3;; CALPAIN III, LARGE SUBUNIT; CANPL3;; CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT; CANP3;; p94
Asterisk 114250 CALSEQUESTRIN 1; CASQ1 CASQ;; CALSEQUESTRIN, FAST-TWITCH, SKELETAL MUSCLE;; CALMITINE;; CALSEQUESTRIN, CELL
Asterisk 114251 CALSEQUESTRIN 2; CASQ2 CALSEQUESTRIN, FAST-TWITCH, CARDIAC MUSCLE
Caret 114260 MOVED TO 300006
Asterisk 114280 CAMPATH-1 ANTIGEN; CDW52
Number Sign 114290 CAMPOMELIC DYSPLASIA CMPD;; CMD1; CMPD1;; CMPD1/SRA1 CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;; ACAMPOMELIC CAMPOMELIC DYSPLASIA, INCLUDED;; ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;; CAMPTOMELIC DYSPLASIA, INCLUDED
Number Sign 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 GORDON SYNDROME;; ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;; CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT
Asterisk 114350 NUCLEOPORIN, 214-KD; NUP214 CAIN GENE; CAN;; D9S46E NUP214/DEK FUSION GENE, INCLUDED;; NUP214/ABL1 FUSION GENE, INCLUDED
Caret 114400 MOVED TO 120435
NULL 114450 CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE
Number Sign 114480 BREAST CANCER BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED
Number Sign 114500 COLORECTAL CANCER; CRC COLON CANCER
Number Sign 114550 HEPATOCELLULAR CARCINOMA HCC;; CANCER, HEPATOCELLULAR;; LIVER CANCER;; LIVER CELL CARCINOMA; LCC;; HEPATOMA HEPATOBLASTOMA, INCLUDED;; HEPATOBLASTOMA CAUSED BY SOMATIC MUTATION, INCLUDED
Percent 114580 CANDIDIASIS, FAMILIAL, 1; CANDF1 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT, WITH OR WITHOUT THYROID DISEASE;; CMCT
Percent 114600 CANINE TEETH, ABSENCE OF UPPER PERMANENT
Asterisk 114610 CANNABINOID RECEPTOR 1; CNR1 CB1 RECEPTOR; CB1; CB1R
NULL 114620 CRANIOFACIOFRONTODIGITAL SYNDROME CANTU CRANIOFACIOFRONTODIGITAL SYNDROME
NULL 114650 CAR FACTOR DEFICIENCY
NULL 114700 CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH
Asterisk 114750 CARBONIC ANHYDRASE III; CA3 CA III;; CARBONIC ANHYDRASE, MUSCLE-SPECIFIC;; CARBONIC ANHYDRASE C
Asterisk 114760 CARBONIC ANHYDRASE IV; CA4 CA IV
Asterisk 114761 CARBONIC ANHYDRASE VA; CA5A CARBONIC ANHYDRASE, MITOCHONDRIAL;; CARBONIC ANHYDRASE 5; CA5;; CA V;; CA VA
Asterisk 114770 CARBONIC ANHYDRASE VII; CA7 CA VII
Asterisk 114780 CARBONIC ANHYDRASE VI; CA6 CA VI;; CARBONIC ANHYDRASE, SECRETED;; GUSTIN
Asterisk 114800 CARBONIC ANHYDRASE I; CA1 CA I;; CARBONIC ANHYDRASE A;; CARBONIC ANHYDRASE B, FORMERLY
Asterisk 114815 CARBONIC ANHYDRASE VIII; CA8 CA VIII;; CARBONIC ANHYDRASE-RELATED POLYPEPTIDE; CARP;; CARBONIC ANHYDRASE-LIKE SEQUENCE; CALS
Asterisk 114830 CARBONYL REDUCTASE 1; CBR1 CARBONYL REDUCTASE; CBR
Plus 114835 CARBOXYLESTERASE 1; CES1 SERINE ESTERASE 1; SES1;; CARBOXYLESTERASE, LIVER;; TRIACYLGLYCEROL HYDROLASE; TGH;; CARBOXYLESTERASE 2, FORMERLY; CES2, FORMERLY;; CHOLESTEROL ESTER HYDROLASE, NEUTRAL, MACROPHAGE-DERIVED; CEH MONOCYTE ESTERASE DEFICIENCY, INCLUDED;; MONOCYTE CARBOXYLESTERASE DEFICIENCY, INCLUDED;; CARBOXYLESTERASE 1 DEFICIENCY, INCLUDED
Caret 114836 MOVED TO 114835
Asterisk 114840 CARBOXYL-ESTER LIPASE; CEL CARBOXYL-ESTER HYDROLASE;; CHOLESTEROL ESTERASE;; LYSOPHOSPHOLIPASE;; BILE SALT-STIMULATED LIPASE; BSSL;; BILE SALT-DEPENDENT LIPASE; BSDL BILE SALT-DEPENDENT LIPASE, ONCOFETAL ISOFORM, INCLUDED;; FETOACINAR PANCREATIC PROTEIN, INCLUDED; FAPP, INCLUDED; FAP, INCLUDED;; CARBOXYL-ESTER LIPASE-LIKE, INCLUDED; CELL, INCLUDED
Caret 114841 MOVED TO 114840
Asterisk 114850 CARBOXYPEPTIDASE A1; CPA1 CPA;; PROCARBOXYPEPTIDASE A1, PANCREATIC
Asterisk 114851 CARBOXYPEPTIDASE A3, MAST CELL; CPA3 MC-CPA
Asterisk 114852 CARBOXYPEPTIDASE B1, TISSUE; CPB1 CARBOXYPEPTIDASE B, PANCREATIC;; PROCARBOXYPEPTIDASE B, PANCREATIC; PCPB;; PANCREAS-SPECIFIC PROTEIN; PASP
Asterisk 114855 CARBOXYPEPTIDASE E; CPE CARBOXYPEPTIDASE H
Asterisk 114860 CARBOXYPEPTIDASE M; CPM
Asterisk 114890 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 5; CEACAM5 CARCINOEMBRYONIC ANTIGEN; CEA
Number Sign 114900 CARCINOID TUMORS, INTESTINAL
NULL 115000 CARDIAC ARRHYTHMIA EXTRASYSTOLES
Number Sign 115080 CARDIAC CONDUCTION DEFECT SUDDEN CARDIAC DEATH, INCLUDED; SCD, INCLUDED;; FAMILIAL SUDDEN DEATH, INCLUDED
Number Sign 115150 CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1 CFC SYNDROME;; CFCS
Number Sign 115195 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2
Number Sign 115196 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3
Number Sign 115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO, INCLUDED
Caret 115198 MOVED TO 192600 AND 115197
Number Sign 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1;; CARDIOMYOPATHY, IDIOPATHIC DILATED;; CARDIOMYOPATHY, FAMILIAL IDIOPATHIC;; CARDIOMYOPATHY, CONGESTIVE
Number Sign 115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 RCM
NULL 115250 COLLAGENOMA, FAMILIAL CUTANEOUS
Number Sign 115300 HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT; HCVAD CAROTENOIDS, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1, INCLUDED
Number Sign 115310 PARAGANGLIOMAS 4; PGL4 CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS;; PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA;; PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL;; PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL;; PARAGANGLIOMA, FAMILIAL MALIGNANT
NULL 115400 CARPAL DISPLACEMENT CARPAL BOSSING
Number Sign 115430 CARPAL TUNNEL SYNDROME; CTS1 CTS;; AMYOTROPHY, THENAR, OF CARPAL ORIGIN
Asterisk 115435 HYALURONAN AND PROTEOGLYCAN LINK PROTEIN 1; HAPLN1 CARTILAGE LINK PROTEIN; CRTL1
Asterisk 115437 MATRILIN 1; MATN1 CARTILAGE MATRIX PROTEIN; CRTM; CMP
Asterisk 115440 CASEIN KINASE II, ALPHA-1; CSNK2A1 CASEIN KINASE II, ALPHA SUBUNIT; CK2A1
Asterisk 115441 CASEIN KINASE II, BETA; CSNK2B CASEIN KINASE II, BETA SUBUNIT; CK2B;; PHOSVITIN
Asterisk 115442 CASEIN KINASE II, ALPHA-2; CSNK2A2 CASEIN KINASE II, ALPHA-PRIME SUBUNIT; CK2A2
Asterisk 115450 CASEIN, ALPHA; CSN1 CASA CASEIN, ALPHA-S1, INCLUDED
Asterisk 115460 CASEIN, BETA; CSN2 CASB
Number Sign 115470 CAT EYE SYNDROME; CES SCHMID-FRACCARO SYNDROME;; CHROMOSOME 22 PARTIAL TETRASOMY;; INV DUP(22)(q11)
Asterisk 115500 CATALASE; CAT
Asterisk 115501 TYROSINASE-RELATED PROTEIN 1; TYRP1 TYRP; TRP;; CATALASE B; CATB; CAS2;; GLYCOPROTEIN 75; GP75;; b-PROTEIN
NULL 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION
Percent 115650 CATARACT 32, MULTIPLE TYPES; CTRCT32 CATARACT, ANTERIOR POLAR, 1; CTAA1;; CATARACT, ANTERIOR POLAR; CAP;; CATARACT, POSTERIOR POLAR, 5; CTPP5
Percent 115660 CATARACT 7; CTRCT7 CATARACT 7, CERULEAN TYPE;; CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1
Percent 115665 CATARACT 8, MULTIPLE TYPES; CTRCT8 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV
Number Sign 115700 CATARACT 4, MULTIPLE TYPES; CTRCT4 CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, CRYSTALLINE ACULEIFORM; CACA;; CATARACT, CONGENITAL, CERULEAN TYPE, 3; CCA3;; CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL; PCC;; CATARACT, PUNCTATE, PROGRESSIVE JUVENILE-ONSET
Percent 115800 CATARACT 29; CTRCT29 CATARACT 29, CORALLIFORM
Number Sign 115900 CATARACT 42; CTRCT42
Number Sign 116100 CATARACT 20, MULTIPLE TYPES; CTRCT20
Caret 116150 MOVED TO 116200 AND 107250
Number Sign 116200 CATARACT 1, MULTIPLE TYPES; CTRCT1 CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, DUFFY-LINKED;; CATARACT, ZONULAR PULVERULENT, 1; CZP1; CZP; CAE1
Number Sign 116300 CATARACT 30, MULTIPLE TYPES; CTRCT30
Number Sign 116400 CATARACT 41; CTRCT41 CATARACT 41, CONGENITAL NUCLEAR TYPE
Number Sign 116600 CATARACT 6, MULTIPLE TYPES; CTRCT6 CATARACT, POSTERIOR POLAR, 1; CTPP1;; CATARACT, AGE-RELATED CORTICAL, 2; ARCC2
Number Sign 116700 CATARACT 13 WITH ADULT i PHENOTYPE; CTRCT13
Plus 116790 CATECHOL-O-METHYLTRANSFERASE; COMT CATECHOL-O-METHYLTRANSFERASE ACTIVITY, LOW, IN RED CELLS, INCLUDED
Number Sign 116800 CATARACT 5, MULTIPLE TYPES; CTRCT5 CATARACT, LAMELLAR;; CATARACT, MARNER TYPE; CAM; CTM
Asterisk 116805 CATENIN, ALPHA-1; CTNNA1 ALPHA-E-CATENIN;; CADHERIN-ASSOCIATED PROTEIN
Asterisk 116806 CATENIN, BETA-1; CTNNB1 CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB
Asterisk 116810 CATHEPSIN B; CTSB CATB;; AMYLOID PRECURSOR PROTEIN SECRETASE;; APP SECRETASE; APPS
Asterisk 116820 CATHEPSIN H; CTSH
Asterisk 116830 CATHEPSIN G; CTSG CATG
Asterisk 116831 GRANZYME H; GZMH CATHEPSIN G-LIKE 2; CTSGL2;; CGL2
Asterisk 116840 CATHEPSIN D; CTSD
Asterisk 116845 CATHEPSIN S; CTSS
NULL 116850 CATATRICHY FORELOCK
Number Sign 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM CAVERNOUS ANGIOMA, FAMILIAL;; CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;; CEREBRAL CAPILLARY MALFORMATIONS CEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;; CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;; HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED
NULL 116870 CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENT OF DIAPHRAGM
Asterisk 116880 CATHEPSIN L; CTSL MAJOR EXCRETED PROTEIN; MEP;; CATL
Asterisk 116890 CATHEPSIN E; CTSE CATE
Asterisk 116896 CUT-LIKE 1; CUTL1 CUT, DROSOPHILA, HOMOLOG OF, 1;; CCAAT DISPLACEMENT PROTEIN; CDP; CDP1;; CUX; CUX1 CDP/CUT ALTERNATIVELY SPLICED PRODUCT, INCLUDED; CASP, INCLUDED
Asterisk 116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA C/EBP-ALPHA;; CEBP
Asterisk 116898 CCAAT/ENHANCER-BINDING PROTEIN, DELTA; CEBPD C/EBP-DELTA;; CRP3
Asterisk 116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A CDKN1;; CDK-INTERACTING PROTEIN 1; CIP1;; WILDTYPE p53-ACTIVATED FRAGMENT 1; WAF1;; p21
Asterisk 116900 CDC28 PROTEIN KINASE 1B; CKS1B CDC2-ASSOCIATED PROTEIN CKS1; CKS1
Asterisk 116901 CDC2-ASSOCIATED PROTEIN CKS2; CKS2
Number Sign 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD LAD1;; LYMPHOCYTE FUNCTION-ASSOCIATED ANTIGEN 1 IMMUNODEFICIENCY;; LFA1 IMMUNODEFICIENCY
Asterisk 116930 CELL ADHESION MOLECULE, NEURAL, 1; NCAM1 CD56;; ANTIGEN MSK39 IDENTIFIED BY MONOCLONAL ANTIBODY 5.1H11; MSK39
Caret 116935 MOVED TO 602783
Asterisk 116940 CYCLIN-DEPENDENT KINASE 1; CDK1 CELL DIVISION CYCLE 2, G1 TO S AND G2 TO M; CDC2;; CELL CYCLE CONTROLLER CDC2;; p34(CDC2)
Asterisk 116945 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 2; MCM2 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 2;; MITOTIN;; CELL DIVISION CYCLE-LIKE 1; CDCL1;; NUCLEAR PROTEIN BM28; BM28
Asterisk 116946 CELL DIVISION CYCLE 27; CDC27 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 3; APC3
Asterisk 116947 CELL DIVISION CYCLE 25A; CDC25A
Asterisk 116948 CELL DIVISION CYCLE 34, S. CEREVISIAE, HOMOLOG OF; CDC34 UBIQUITIN-CONJUGATING ENZYME CDC34;; UBC3; UBCH3;; UBIQUITIN-CONJUGATING ENZYME E2R 1; UBE2R1
Asterisk 116949 CELL DIVISION CYCLE 25B; CDC25B
NULL 116950 TEMPERATURE-SENSITIVE AF8 COMPLEMENT; AF8T CELL CYCLE CONTROLLER, G1
Asterisk 116951 CYCLIN-DEPENDENT KINASE 11A; CDK11A CELL DIVISION CYCLE 2-LIKE 2; CDC2L2;; PITSLRE A
Asterisk 116952 CELL DIVISION CYCLE 42; CDC42 GTP-BINDING PROTEIN, 25-KD; G25K
Asterisk 116953 CYCLIN-DEPENDENT KINASE 2; CDK2 CELL DIVISION KINASE 2;; p33(CDK2)
Caret 116954 MOVED TO 120920
Asterisk 116955 ZINC FINGER PROTEIN 9; ZNF9 CELLULAR RETROVIRAL NUCLEIC ACID-BINDING PROTEIN 1; CNBP1
Asterisk 116957 RETINOBLASTOMA-LIKE 1; RBL1 CELLULAR PROTEIN p107; CP107; p107
Asterisk 116960 MORTALITY FACTOR 4; MORF4 SENESCENCE-RELATED, CELLULAR, 1; SEN1;; CELLULAR SENESCENCE 1;; CELL SENESCENCE-RELATED GENE, COMPLEMENTATION GROUP B; CSR
Number Sign 117000 CENTRAL CORE DISEASE OF MUSCLE; CCD CCO MINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;; MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;; MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;; NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED; CNMDU1, INCLUDED
Percent 117100 CENTRALOPATHIC EPILEPSY CENTROTEMPORAL EPILEPSY; ECT;; TEMPORAL-CENTRAL FOCAL EPILEPSY;; BENIGN ROLANDIC EPILEPSY;; BENIGN EPILEPSY OF CHILDHOOD WITH CENTROTEMPORAL SPIKES; BECTS
Asterisk 117139 CENTROMERIC PROTEIN A; CENPA
Asterisk 117140 CENTROMERIC PROTEIN B; CENPB
Asterisk 117141 CENTROMERIC PROTEIN C1; CENPC1 CENTROMERIC PROTEIN C1 PSEUDOGENE, INCLUDED; CENPC2, INCLUDED
Asterisk 117142 CENTROMERIC PROTEIN D; CENPD
Asterisk 117143 CENTROMERIC PROTEIN E; CENPE KINESIN FAMILY MEMBER 10; KIF10
Caret 117200 REMOVED FROM DATABASE
Number Sign 117210 SPINOCEREBELLAR ATAXIA 31; SCA31 SPINOCEREBELLAR ATAXIA, 16q22-LINKED
Number Sign 117300 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 DEMENTIA, FAMILIAL DANISH; FDD;; FAMILIAL DANISH DEMENTIA;; CEREBELLAR ATAXIA, CATARACT, DEAFNESS, AND DEMENTIA OR PSYCHOSIS;; HEREDOPATHIA OPHTHALMOOTOENCEPHALICA; HOOE
Asterisk 117340 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 2; CDR2 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN, 62-KD; CDR62
Caret 117350 MOVED TO 183090
Number Sign 117360 SPINOCEREBELLAR ATAXIA 29; SCA29 CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT; CNPCA;; CEREBELLAR VERMIS APLASIA;; APLASIA OF CEREBELLAR VERMIS; ACV
Caret 117400 MOVED TO 164400 AND 117210
Number Sign 117550 SOTOS SYNDROME 1; SOTOS1 SOTOS SYNDROME;; CEREBRAL GIGANTISM;; CHROMOSOME 5q35 DELETION SYNDROME
NULL 117600 CEREBRAL SARCOMA
Number Sign 117650 CEREBROCOSTOMANDIBULAR SYNDROME; CCMS RIB GAP DEFECTS WITH MICROGNATHIA
Asterisk 117700 CERULOPLASMIN; CP FERROXIDASE
Number Sign 117800 APOCRINE GLAND SECRETION, VARIATION IN EAR WAX, WET/DRY; EWWD;; WET WAX; WW;; CERUMEN, VARIATION IN;; AXILLARY ODOR, VARIATION IN;; COLOSTRUM SECRETION, VARIATION IN
NULL 117850 CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS HYPERTRICHOSIS, POSTERIOR CERVICAL, WITH UNDERLYING KYPHOSCOLIOSIS
NULL 117900 CERVICAL RIB
NULL 118000 CERVICAL VERTEBRAL BRIDGE
NULL 118005 CERVICAL VERTEBRAL DYSPLASIA
Number Sign 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 KFS;; CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT
Caret 118150 MOVED TO 107776
Asterisk 118190 HEAT-SHOCK 60-KD PROTEIN 1; HSPD1 HSP60;; CHAPERONIN, 60-KD; CPN60;; GroEL, E. COLI, HOMOLOG OF
Number Sign 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HEREDITARY MOTOR AND SENSORY NEUROPATHY I; HMSN I;; HEREDITARY MOTOR AND SENSORY NEUROPATHY IB; HMSN IB;; HMSN1;; HMSN1B;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B;; CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY;; PERONEAL MUSCULAR ATROPHY;; CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B
Number Sign 118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;; CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;; HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;; HMSN IIA1;; HMSN2A1
Number Sign 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HEREDITARY MOTOR AND SENSORY NEUROPATHY IA; HMSN IA;; HMSN1A;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A;; CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A
NULL 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE
Number Sign 118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E
NULL 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM
NULL 118330 CHEILITIS GLANDULARIS
NULL 118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS
Number Sign 118400 CHERUBISM CRBM
Percent 118420 CHIARI MALFORMATION TYPE I CM1 CHIARI MALFORMATION TYPE I WITH SYRINGOMYELIA, INCLUDED;; CM1 WITH SYRINGOMYELIA, INCLUDED
Asterisk 118423 CHIMERIN 1; CHN1 N-CHIMERIN; CHN;; CHIMERIN, ALPHA-1;; GTPase-ACTIVATING PROTEIN, RHO, 2; ARHGAP2;; RHO GTPase-ACTIVATING PROTEIN 2; RHOGAP2 CHIMERIN, ALPHA-2, INCLUDED
Asterisk 118425 CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1 CHLORIDE CHANNEL, MUSCLE; CLC1
NULL 118430 CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF
Asterisk 118440 CHOLECYSTOKININ; CCK
Asterisk 118444 CHOLECYSTOKININ A RECEPTOR; CCKAR
Asterisk 118445 CHOLECYSTOKININ B RECEPTOR; CCKBR GASTRIN RECEPTOR; GASR
Number Sign 118450 ALAGILLE SYNDROME 1; ALGS1 ALAGILLE SYNDROME; ALGS;; ALAGILLE-WATSON SYNDROME; AWS;; CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;; ARTERIOHEPATIC DYSPLASIA; AHD;; HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
Asterisk 118455 CYTOCHROME P450, SUBFAMILY VIIA, POLYPEPTIDE 1; CYP7A1 CYP7;; CHOLESTEROL 7-ALPHA-HYDROXYLASE;; CHOLESTEROL 7-ALPHA-MONOOXYGENASE
Asterisk 118457 CHOLESTEROL CRYSTALLIZATION INHIBITOR; CCI
Asterisk 118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP LIPID TRANSFER PROTEIN I
Caret 118480 MOVED TO 134634
Asterisk 118485 CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1; CYP11A1 CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME;; CYTOCHROME P450 SIDE-CHAIN CLEAVAGE ENZYME;; CYTOCHROME P450SCC;; CYTOCHROME P450C11A1;; CYP11A
Asterisk 118490 CHOLINE ACETYLTRANSFERASE; CHAT
Asterisk 118491 CHOLINE KINASE, ALPHA; CHKA CHK;; CKI, YEAST, HUMAN COMPLEMENT OF
Asterisk 118493 CHOLINERGIC RECEPTOR, MUSCARINIC, 2; CHRM2 ACETYLCHOLINE RECEPTOR, MUSCARINIC, 2
Asterisk 118494 CHOLINERGIC RECEPTOR, MUSCARINIC, 3; CHRM3 ACETYLCHOLINE RECEPTOR, MUSCARINIC, 3
Asterisk 118495 CHOLINERGIC RECEPTOR, MUSCARINIC, 4; CHRM4 ACETYLCHOLINE RECEPTOR, MUSCARINIC, 4
Asterisk 118496 CHOLINERGIC RECEPTOR, MUSCARINIC, 5; CHRM5 ACETYLCHOLINE RECEPTOR, MUSCARINIC, 5
Asterisk 118502 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; CHRNA2 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-2 SUBUNIT
Asterisk 118503 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 3; CHRNA3 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-3 SUBUNIT
Asterisk 118504 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-4 SUBUNIT
Asterisk 118505 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 5; CHRNA5 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-5 SUBUNIT
Asterisk 118507 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2; CHRNB2 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, BETA-2 SUBUNIT
Asterisk 118508 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 3; CHRNB3 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, BETA-3 SUBUNIT
Asterisk 118509 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 4; CHRNB4 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, BETA-4 SUBUNIT
Asterisk 118510 CHOLINERGIC RECEPTOR, MUSCARINIC, 1; CHRM1 ACETYLCHOLINE RECEPTOR, MUSCARINIC, 1
Asterisk 118511 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-7 SUBUNIT
Number Sign 118600 CHONDROCALCINOSIS 2; CCAL2 CHONDROCALCINOSIS, FAMILIAL ARTICULAR;; CALCIUM GOUT;; CALCIUM PYROPHOSPHATE ARTHROPATHY;; CALCIUM PYROPHOSPHATE DIHYDRATE DEPOSITION DISEASE; CPPDD
NULL 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION FAMILIAL APATITE DISEASE
NULL 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT CHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED;; CHONDRODYSPLASIA PUNCTATA DUE TO WARFARIN TERATOGENICITY, INCLUDED
Percent 118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE CHONDRODYSPLASIA PUNCTATA, MT TYPE
Asterisk 118661 VERSICAN; VCAN CHONDROITIN SULFATE PROTEOGLYCAN 2; CSPG2;; CHONDROITIN SULFATE PROTEOGLYCAN CORE PROTEIN, CARTILAGE
NULL 118670 CHONDRONECTIN
Number Sign 118700 CHOREA, BENIGN HEREDITARY; BHC BCH;; HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
NULL 118750 CHOREOATHETOSIS, FAMILIAL INVERTED INFANTILE CHOREOATHETOSIS OF FISHER
Number Sign 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1 PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC;; CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1;; MOUNT-REBACK SYNDROME;; CHOREOATHETOSIS, NONKINESIGENIC;; DYSTONIA 8; DYT8
Asterisk 118820 CHORIONIC SOMATOMAMMOTROPIN HORMONE 2; CSH2 CHORIONIC SOMATOMAMMOTROPIN B; CSB
Asterisk 118825 CHM-LIKE; CHML RAB ESCORT PROTEIN 2; REP2
Percent 118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN LIPASE HYPERLIPOPROTEINEMIA, TYPE IC
Percent 118840 CHROMATE RESISTANCE; CHR
Asterisk 118850 CHORIONIC GONADOTROPIN, ALPHA CHAIN; CGA GLYCOPROTEIN HORMONES, ALPHA CHAIN;; FOLLICLE-STIMULATING HORMONE, ALPHA CHAIN; FSHA;; LUTEINIZING HORMONE, ALPHA CHAIN; LHA;; THYROID-STIMULATING HORMONE, ALPHA CHAIN; TSHA;; THYROTROPIN, ALPHA CHAIN
Asterisk 118860 CHORIONIC GONADOTROPIN, BETA CHAIN; CGB CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 3; CGB3
NULL 118865 CHOROIDAL OSTEOMA, BILATERAL
Asterisk 118870 CHROMOSOMAL PROTEIN, NONHISTONE 1; NHCP1
Asterisk 118880 CHROMOSOMAL PROTEIN, NONHISTONE 2; NHCP2
Asterisk 118888 CHYMOTRYPSIN-LIKE PROTEASE; CTRL CTRL1
Asterisk 118890 CHYMOTRYPSINOGEN B1; CTRB1 CHYMOTRYPSINOGEN B; CTRB;; CHYMOTRYPSINOGEN A;; ALPHA-CHYMOTRYPSINOGEN
NULL 118900 CIRRHOSIS, FAMILIAL
Asterisk 118910 CHROMOGRANIN A; CHGA CGA;; SECRETORY PROTEIN I PARATHYROID SECRETORY PROTEIN, INCLUDED; PSP, INCLUDED;; PANCREASTATIN, INCLUDED;; CHROMOSTATIN, INCLUDED;; CATESTATIN, INCLUDED
Asterisk 118920 CHROMOGRANIN B; CHGB SECRETOGRANIN I; SCG1
Asterisk 118930 SECRETOGRANIN II; SCG2 CHROMOGRANIN C; CHGC SECRETONEURIN, INCLUDED; SN, INCLUDED
Asterisk 118938 CHYMASE 1; CMA1 CHYMASE, MAST CELL;; CHYMASE, HEART; CYH
Caret 118940 MOVED TO 118938
NULL 118943 CHYMOSIN PSEUDOGENE; CYMP PROCHYMOSIN, INCLUDED
Asterisk 118945 CILIARY NEUROTROPHIC FACTOR; CNTF
Asterisk 118946 CILIARY NEUROTROPHIC FACTOR RECEPTOR; CNTFR CNTFR-ALPHA
Asterisk 118950 CITRATE SYNTHASE, MITOCHONDRIAL; CS
Caret 118953 MOVED TO 192020
Asterisk 118955 CLATHRIN, HEAVY POLYPEPTIDE; CLTC CLATHRIN HEAVY CHAIN; CHC CLTC/TFE3 FUSION GENE, INCLUDED;; CLTC/ALK FUSION GENE, INCLUDED
Asterisk 118960 CLATHRIN, LIGHT POLYPEPTIDE A; CLTA LCA
Asterisk 118970 CLATHRIN, LIGHT POLYPEPTIDE B; CLTB LCB
NULL 118980 CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL
Asterisk 118990 SPERM-SPECIFIC ANTIGEN 2; SSFA2 CLEAVAGE SIGNAL 1; CS1;; KRAS-INDUCED ACTIN-INTERACTING PROTEIN; KRAP
Percent 119000 CLEFT CHIN CHIN DIMPLE
Percent 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY; SHFLD;; CLEFT HAND AND ABSENT TIBIA;; APLASIA OF TIBIA WITH ECTRODACTYLY;; TIBIAL APLASIA WITH SPLIT-HAND/SPLIT-FOOT DEFORMITY;; ECTRODACTYLY WITH APLASIA OF LONG BONES
Number Sign 119300 VAN DER WOUDE SYNDROME 1; VWS1 VDWS;; LIP-PIT SYNDROME; LPS; PIT;; CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP
Number Sign 119500 POPLITEAL PTERYGIUM SYNDROME; PPS CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES;; FACIOGENITOPOPLITEAL SYNDROME
Percent 119530 OROFACIAL CLEFT 1; OFC1 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 1;; OROFACIAL CLEFT, NONSYNDROMIC; OFC;; CLEFT LIP/PALATE, NONSYNDROMIC
Percent 119540 CLEFT PALATE, ISOLATED; CPI CLEFT PALATE; CP
Percent 119550 SYNGNATHIA CLEFT PALATE-LATERAL SYNECHIA SYNDROME;; CPLS SYNDROME
NULL 119570 CLEFT SOFT PALATE
Number Sign 119580 BLEPHAROCHEILODONTIC SYNDROME 1; BCDS1 BLEPHAROCHEILODONTIC SYNDROME; BCDS;; BCD SYNDROME;; CLEFTING, ECTROPION, AND CONICAL TEETH;; ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE;; ELSCHNIG SYNDROME;; LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE
Number Sign 119600 CLEIDOCRANIAL DYSPLASIA; CCD CLEIDOCRANIAL DYSOSTOSIS; CLCD CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;; CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED
NULL 119650 CLEIDORHIZOMELIC SYNDROME
Number Sign 119800 CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF
Number Sign 119900 DIGITAL CLUBBING, ISOLATED CONGENITAL CLUBBING OF DIGITS;; ACROPACHY, HEREDITARY
Percent 119915 CLUSTER HEADACHE, FAMILIAL
NULL 120000 COARCTATION OF AORTA
NULL 120040 COCHLEOSACCULAR DEGENERATION WITH PROGRESSIVE CATARACTS
Percent 120050 COXSACKIEVIRUS B3 SUSCEPTIBILITY; CXB3S CB3S
Asterisk 120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-3 CHAIN TUMSTATIN, INCLUDED;; GOODPASTURE ANTIGEN, INCLUDED
Number Sign 120080 COLCHICINE RESISTANCE COLCHICINE SENSITIVITY; CLCS
Asterisk 120090 COLLAGEN, TYPE IV, ALPHA-2; COL4A2 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-2 CHAIN
Number Sign 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 FCAS;; COLD HYPERSENSITIVITY;; COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL;; COLD URTICARIA, FAMILIAL; FCU;; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1; CAPS1
Asterisk 120105 COLIPASE, PANCREATIC; CLPS
Asterisk 120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1
Asterisk 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1 LONG-CHAIN COLLAGEN;; LC COLLAGEN
Asterisk 120130 COLLAGEN, TYPE IV, ALPHA-1; COL4A1 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-1 CHAIN ARRESTEN, INCLUDED
Asterisk 120131 COLLAGEN, TYPE IV, ALPHA-4; COL4A4 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-4 CHAIN
Plus 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1 COLLAGEN, TYPE II;; COLLAGEN OF CARTILAGE CHONDROCALCIN, INCLUDED;; VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA, INCLUDED
Plus 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1 COLLAGEN OF SKIN, TENDON, AND BONE, ALPHA-1 CHAIN COL1A1/PDGFB FUSION GENE, INCLUDED;; OI/EDS COMBINED SYNDROME, INCLUDED
Asterisk 120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2 COLLAGEN OF SKIN, TENDON, AND BONE, ALPHA-2 CHAIN
Asterisk 120165 COLLAGEN, TYPE XIX, ALPHA-1; COL19A1 COLLAGEN, TYPE IX-LIKE; COL9A1L
Asterisk 120170 COLLAGEN, FETAL MEMBRANE, B POLYPEPTIDE COLLAGEN, TYPE V, B POLYPEPTIDE
Asterisk 120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1 COLLAGEN, FETAL;; COLLAGEN, BLOOD VESSEL
Asterisk 120190 COLLAGEN, TYPE V, ALPHA-2; COL5A2 AB COLLAGEN;; COLLAGEN, FETAL MEMBRANE, A POLYPEPTIDE
Number Sign 120200 COLOBOMA, OCULAR, AUTOSOMAL DOMINANT COLOBOMA, UVEORETINAL;; COLOBOMA OF IRIS, CHOROID, AND RETINA; COI
Asterisk 120210 COLLAGEN, TYPE IX, ALPHA-1; COL9A1 COLLAGEN, CARTILAGE-SPECIFIC SHORT;; ALPHA-1(IX) COLLAGEN CHAIN;; CARTILAGE-SPECIFIC SHORT COLLAGEN
Asterisk 120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1
Asterisk 120216 COLLAGEN, TYPE V, ALPHA-3; COL5A3
Asterisk 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1 COLLAGEN, INTIMAL;; SHORT-CHAIN COLLAGEN
Asterisk 120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2
Asterisk 120250 COLLAGEN, TYPE VI, ALPHA-3; COL6A3
Asterisk 120251 COLLAGEN, TYPE VIII, ALPHA-1; COL8A1
Asterisk 120252 COLLAGEN, TYPE VIII, ALPHA-2; COL8A2
Asterisk 120260 COLLAGEN, TYPE IX, ALPHA-2; COL9A2
Asterisk 120270 COLLAGEN, TYPE IX, ALPHA-3; COL9A3
Asterisk 120280 COLLAGEN, TYPE XI, ALPHA-1; COL11A1
Asterisk 120290 COLLAGEN, TYPE XI, ALPHA-2; COL11A2
Percent 120300 COLOBOMA OF MACULA AGENESIS OF MACULA
Caret 120310 MOVED TO 120140
Asterisk 120320 COLLAGEN, TYPE XII, ALPHA-1; COL12A1
Caret 120321 MOVED TO 120320
Asterisk 120324 COLLAGEN, TYPE XIV, ALPHA-1; COL14A1 UNDULIN; UND
Asterisk 120325 COLLAGEN, TYPE XV, ALPHA-1; COL15A1
Asterisk 120326 COLLAGEN, TYPE XVI, ALPHA-1; COL16A1
Caret 120327 MOVED TO 113811
Asterisk 120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1 ENDOSTATIN, INCLUDED
Number Sign 120330 PAPILLORENAL SYNDROME; PAPRS RENAL-COLOBOMA SYNDROME;; OPTIC NERVE COLOBOMA WITH RENAL DISEASE;; COLOBOMA OF OPTIC NERVE WITH RENAL DISEASE;; OPTIC COLOBOMA, VESICOURETERAL REFLUX, AND RENAL ANOMALIES;; RENAL-COLOBOMA SYNDROME WITH MACULAR ABNORMALITIES;; CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OR WITHOUT OCULAR ABNORMALITIES;; CAKUT WITH OR WITHOUT OCULAR ABNORMALITIES
Asterisk 120340 COLLAGEN, TYPE I, ALPHA, RECEPTOR; COL1AR COLLAGEN RECEPTOR; COLR
Asterisk 120350 COLLAGEN, TYPE XIII, ALPHA-1; COL13A1
Asterisk 120353 MATRIX METALLOPROTEINASE 1; MMP1 COLLAGENASE, FIBROBLAST; CLG; CLGN;; COLLAGENASE, INTERSTITIAL
Asterisk 120355 MATRIX METALLOPROTEINASE 8; MMP8 COLLAGENASE I, NEUTROPHIL; CLG1
Asterisk 120360 MATRIX METALLOPROTEINASE 2; MMP2 COLLAGENASE TYPE IV-A; CLG4A;; COLLAGENASE TYPE IV, 72-KD;; GELATINASE, 72-KD;; GELATINASE A;; GELATINASE, NEUTROPHIL
Asterisk 120361 MATRIX METALLOPROTEINASE 9; MMP9 COLLAGENASE TYPE IV-B; CLG4B;; COLLAGENASE TYPE IV, 92-KD;; COLLAGENASE TYPE V;; GELATINASE, 92-KD;; GELATINASE B; GELB
NULL 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY APICAL DYSTROPHY;; SORSBY SYNDROME
Asterisk 120420 COLONY-STIMULATING FACTOR 1; CSF1 COLONY-STIMULATING FACTOR, MACROPHAGE-SPECIFIC; MCSF
Number Sign 120430 COLOBOMA OF OPTIC NERVE OPTIC NERVE HEAD PITS, BILATERAL CONGENITAL, INCLUDED;; MORNING GLORY DISC ANOMALY, INCLUDED
Number Sign 120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION; COB1
Number Sign 120435 LYNCH SYNDROME I COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1;; COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; FCC1;; COCA1 LYNCH SYNDROME II, INCLUDED
Asterisk 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1
NULL 120440 COLONIC VARICES WITHOUT PORTAL HYPERTENSION
Percent 120450 COMEDONES, FAMILIAL DYSKERATOTIC
Caret 120460 MOVED TO 191170
Asterisk 120470 DELETED IN COLORECTAL CARCINOMA; DCC COLORECTAL CANCER-RELATED CHROMOSOME SEQUENCE 18; CRC18;; CRCR1
NULL 120500 COMMISSURAL LIP PITS
Percent 120502 BRANCHIOOTIC SYNDROME 2 BO SYNDROME 2; BOS2
Asterisk 120520 MEMBRANE METALLOENDOPEPTIDASE; MME COMMON ACUTE LYMPHOCYTIC LEUKEMIA ANTIGEN; CALLA;; CD10;; NEPRILYSIN;; NEUTRAL ENDOPEPTIDASE, MEMBRANE-ASSOCIATED; NEP;; ENKEPHALINASE;; ATRIOPEPTIDASE
Asterisk 120550 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, A CHAIN; C1QA COMPLEMENT COMPONENT 1, q SUBCOMPONENT, ALPHA POLYPEPTIDE;; COMPLEMENT COMPONENT C1q, A CHAIN;; SERUM C1q
Asterisk 120560 COMPLEMENT COMPONENT C1q, FIBROBLAST TYPE
Asterisk 120570 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, B CHAIN; C1QB COMPLEMENT COMPONENT 1, q SUBCOMPONENT, BETA POLYPEPTIDE;; COMPLEMENT COMPONENT C1q, B CHAIN
Asterisk 120575 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, C CHAIN; C1QC COMPLEMENT COMPONENT C1q, C CHAIN;; COMPLEMENT COMPONENT 1, q SUBCOMPONENT, GAMMA POLYPEPTIDE; C1QG
Asterisk 120577 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, RECEPTOR 1; C1QR1 CD93 ANTIGEN; CD93;; COMPLEMENT COMPONENT 1q RECEPTOR; C1QR;; COLLECTIN RECEPTOR
Asterisk 120580 COMPLEMENT COMPONENT 1, s SUBCOMPONENT; C1S COMPLEMENT COMPONENT C1s
Asterisk 120620 COMPLEMENT COMPONENT RECEPTOR 1; CR1 COMPLEMENT COMPONENT 3b/4b RECEPTOR;; C3-BINDING PROTEIN;; C3BR;; C4BR;; CD35
Asterisk 120650 COMPLEMENT COMPONENT RECEPTOR 2; CR2 COMPLEMENT COMPONENT 3d RECEPTOR; C3DR;; EPSTEIN-BARR VIRUS RECEPTOR;; EBV RECEPTOR;; CD21
Asterisk 120700 COMPLEMENT COMPONENT 3; C3 C3a, INCLUDED;; C3b, INCLUDED;; C3c, INCLUDED;; C3d, INCLUDED;; ACYLATION-STIMULATING PROTEIN, INCLUDED; ASP, INCLUDED
Number Sign 120790 COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF
Asterisk 120810 COMPLEMENT COMPONENT 4A; C4A COMPLEMENT COMPONENT 4S; C4S;; ACIDIC C4;; C4, RODGERS FORM;; SLP, MOUSE, HOMOLOG OF; SLP
Asterisk 120820 COMPLEMENT COMPONENT 4B; C4B COMPLEMENT COMPONENT 4F; C4F;; BASIC C4;; C4, CHIDO FORM
Asterisk 120830 COMPLEMENT COMPONENT 4-BINDING PROTEIN, ALPHA; C4BPA C4b RECEPTOR; C4BP COMPLEMENT COMPONENT 4-BINDING PROTEIN, ALPHA-LIKE 1, INCLUDED; C4BPAL1, INCLUDED
Asterisk 120831 COMPLEMENT COMPONENT 4-BINDING PROTEIN, BETA CHAIN; C4BPB
Caret 120832 MOVED TO 120830
Asterisk 120900 COMPLEMENT COMPONENT 5; C5
Asterisk 120920 CD46 ANTIGEN; CD46 TROPHOBLAST-LYMPHOCYTE CROSS-REACTIVE ANTIGEN; TLX;; MEMBRANE COFACTOR PROTEIN; MCP;; COMPLEMENT MEMBRANE COFACTOR PROTEIN;; ANTIGEN DEFINED BY MONOCLONAL ANTIBODY TRA-2-10; MIC10
Asterisk 120930 COMPLEMENT COMPONENT 8, GAMMA SUBUNIT; C8G C8C
Asterisk 120940 COMPLEMENT COMPONENT 9; C9
Asterisk 120950 COMPLEMENT COMPONENT 8, ALPHA SUBUNIT; C8A C8 ALPHA
Asterisk 120960 COMPLEMENT COMPONENT 8, BETA SUBUNIT; C8B COMPLEMENT COMPONENT C8B;; C8 BETA
Number Sign 120970 CONE-ROD DYSTROPHY 2; CORD2 CONE-ROD DYSTROPHY; CORD;; CONE-ROD RETINAL DYSTROPHY; CRD; CRD2;; RETINAL CONE-ROD DYSTROPHY; RCRD2
Asterisk 120980 INTEGRIN, ALPHA-M; ITGAM COMPLEMENT RECEPTOR TYPE 3, ALPHA SUBUNIT; CR3A;; Mac1, ALPHA SUBUNIT; MAC1A;; Mo1, ALPHA SUBUNIT; MO1A;; CD11B
Caret 121000 REMOVED FROM DATABASE
Asterisk 121009 CONNECTIVE TISSUE GROWTH FACTOR; CTGF INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 8; IGFBP8;; CCN2
Asterisk 121010 PRO-PLATELET BASIC PROTEIN; PPBP CXC CHEMOKINE LIGAND 7; CXCL7;; SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 7; SCYB7 PLATELET BASIC PROTEIN, INCLUDED; PBP, INCLUDED;; CONNECTIVE TISSUE-ACTIVATING PEPTIDE III, INCLUDED; CTAP3, INCLUDED;; BETA-THROMBOGLOBULIN, INCLUDED; TGB, INCLUDED;; THROMBOGLOBULIN, BETA-1, INCLUDED; TGB1, INCLUDED;; NEUTROPHIL-ACTIVATING PEPTIDE 2, INCLUDED; NAP2, INCLUDED;; THROMBOCIDIN 1, INCLUDED; TC1, INCLUDED;; THROMBOCIDIN 2, INCLUDED; TC2, INCLUDED
Asterisk 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2 GAP JUNCTION PROTEIN, 26-KD;; CONNEXIN 26; CX26
Asterisk 121012 GAP JUNCTION PROTEIN, ALPHA-4; GJA4 GAP JUNCTION PROTEIN, 37-KD;; CONNEXIN 37; CX37
Asterisk 121013 GAP JUNCTION PROTEIN, ALPHA-5; GJA5 GAP JUNCTION PROTEIN, 40-KD;; CONNEXIN 40; CX40
Asterisk 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1 GAP JUNCTION PROTEIN, 43-KD;; CONNEXIN 43; CX43;; HEART CONNEXIN
Asterisk 121015 GAP JUNCTION PROTEIN, ALPHA-3; GJA3 GAP JUNCTION PROTEIN, 46-KD;; CONNEXIN 46; CX46
Caret 121020 MOVED TO 160120
Number Sign 121050 ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9 BEALS SYNDROME;; CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
NULL 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E CONTRACTURES OF FINGERS AND JAW
Number Sign 121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1 EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;; SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED
Number Sign 121201 SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2 CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2; BFNC2
Percent 121210 FEBRILE SEIZURES, FAMILIAL, 1; FEB1 CONVULSIONS, FAMILIAL FEBRILE, 1
Caret 121250 MOVED TO 300088
NULL 121270 COPPER DEFICIENCY, FAMILIAL BENIGN
Number Sign 121300 COPROPORPHYRIA, HEREDITARY; HCP COPROPORPHYRINOGEN OXIDASE DEFICIENCY;; CPOX DEFICIENCY;; CPO DEFICIENCY;; CPX DEFICIENCY HARDEROPORPHYRIA, INCLUDED
NULL 121350 CORACOCLAVICULAR JOINT, ANOMALOUS
Asterisk 121360 CORE-BINDING FACTOR, BETA SUBUNIT; CBFB POLYOMAVIRUS ENHANCER-BINDING PROTEIN 2-BETA; PEBP2B CBFB/MYH11 FUSION GENE, INCLUDED
Percent 121390 CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS
Percent 121400 CORNEA PLANA 1, AUTOSOMAL DOMINANT; CNA1
NULL 121450 CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS BAND KERATOPATHY WITH DEAFNESS
Caret 121700 MOVED TO 122000
Number Sign 121800 SCHNYDER CORNEAL DYSTROPHY; SCCD CORNEAL DYSTROPHY, SCHNYDER;; SCHNYDER CRYSTALLINE CORNEAL DYSTROPHY;; CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
Number Sign 121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; EBMD CORNEAL DYSTROPHY, ANTERIOR BASEMENT MEMBRANE;; COGAN CORNEAL DYSTROPHY;; CORNEAL DYSTROPHY, MAP-DOT-FINGERPRINT TYPE;; CORNEAL DYSTROPHY, MICROCYSTIC
Number Sign 121850 CORNEAL DYSTROPHY, FLECK CFD;; FLECK CORNEAL DYSTROPHY; FCD;; CORNEAL DYSTROPHY, FRANCOIS-NEETENS SPECKLED OR FLECKED
Number Sign 121900 CORNEAL DYSTROPHY, GROENOUW TYPE I; CDGG1 GRANULAR CORNEAL DYSTROPHY, TYPE I; GCD1;; CORNEAL DYSTROPHY, PUNCTATE OR NODULAR
Number Sign 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1 POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY; PPCD;; CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR;; MAUMENEE CORNEAL DYSTROPHY;; CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT, FORMERLY; CHED1, FORMERLY
Number Sign 122100 CORNEAL DYSTROPHY, MEESMANN; MECD CORNEAL DYSTROPHY, MEESMANN EPITHELIAL;; MEESMANN CORNEAL DYSTROPHY;; CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN
Number Sign 122200 CORNEAL DYSTROPHY, LATTICE TYPE I; LCD1 LCD;; LATTICE CORNEAL DYSTROPHY, TYPE I;; CDL1
Number Sign 122400 EPITHELIAL RECURRENT EROSION DYSTROPHY; ERED CORNEAL EROSIONS, RECURRING HEREDITARY
NULL 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS, UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION RAMOS-ARROYO SYNDROME
NULL 122440 CORNEODERMATOOSSEOUS SYNDROME CDO SYNDROME;; CORNEAL DYSTROPHY, EPITHELIAL, WITH SKIN AND SKELETAL CHANGES
Percent 122450 CORNEAL HYPESTHESIA, FAMILIAL TRIGEMINAL ANESTHESIA, FAMILIAL
NULL 122455 CORONARY ARTERY DISSECTION, SPONTANEOUS
Percent 122460 HUMAN CORONAVIRUS SENSITIVITY; HCVS CORONAVIRUS 229E SUSCEPTIBILITY; CVS
Number Sign 122470 CORNELIA DE LANGE SYNDROME 1; CDLS1 CDL; CDLS;; TYPUS DEGENERATIVUS AMSTELODAMENSIS;; DE LANGE SYNDROME;; BRACHMANN-DE LANGE SYNDROME; BDLS
Caret 122480 MOVED TO 166740
Asterisk 122500 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 6; SERPINA6 CORTICOSTEROID-BINDING GLOBULIN; CBG;; TRANSCORTIN
NULL 122550 CORTICOSTERONE SIDE-CHAIN ISOMERASE; CSCI
Asterisk 122559 CORTICOTROPIN-RELEASING HORMONE-BINDING PROTEIN; CRHBP CORTICOTROPIN-RELEASING FACTOR-BINDING PROTEIN; CRFBP
Asterisk 122560 CORTICOTROPIN-RELEASING HORMONE; CRH CORTICOTROPIN-RELEASING FACTOR; CRF
Asterisk 122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1 CORTICOTROPIN-RELEASING FACTOR RECEPTOR; CRFR1;; CORTICOTROPIN-RELEASING HORMONE RECEPTOR; CRHR
NULL 122580 COSTOCORACOID LIGAMENT, CONGENITALLY SHORT
Number Sign 122600 SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5 SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES;; SPONDYLOCOSTAL DYSPLASIA;; SPONDYLOTHORACIC DYSOSTOSIS;; COSTOVERTEBRAL SEGMENTATION ANOMALIES
Number Sign 122700 COUMARIN RESISTANCE COUMARIN, POOR METABOLISM OF;; WARFARIN RESISTANCE COUMARIN SENSITIVITY, INCLUDED;; WARFARIN SENSITIVITY, INCLUDED
Plus 122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6 COUMARIN 7-HYDROXYLASE;; CYTOCHROME P450, PHENOBARBITAL-INDUCIBLE; P450PB;; CYP2A3, FORMERLY TEGAFUR, POOR METABOLISM OF, INCLUDED
Percent 122750 COXA VARA
NULL 122780 COXOAURICULAR SYNDROME
NULL 122850 CRANIOACROFACIAL SYNDROME
Number Sign 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD
Number Sign 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS
NULL 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA OSTEOSCLEROSIS, STANESCU TYPE
Caret 122920 MOVED TO 304110
Number Sign 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD CMD;; CRANIOMETAPHYSEAL DYSPLASIA, JACKSON TYPE; CMDJ
NULL 123050 CRANIORHINY
Number Sign 123100 CRANIOSYNOSTOSIS 1; CRS1 CRS;; CRANIOSTENOSIS
Asterisk 123101 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2; MSX2 MSH, DROSOPHILA, HOMOLOG OF, 2
Number Sign 123150 JACKSON-WEISS SYNDROME; JWS CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES
Percent 123155 HYDROCEPHALUS, AUTOSOMAL DOMINANT; HDCPH1
Asterisk 123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP PENTRAXIN 1, SHORT; PTX1
NULL 123270 CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE
Asterisk 123280 CREATINE KINASE, BRAIN TYPE; CKB BRAIN CREATINE KINASE; BCK
Asterisk 123290 CREATINE KINASE, MITOCHONDRIAL 1B; CKMT1B CREATINE KINASE, UBIQUITOUS MITOCHONDRIAL; UMTCK;; MTCK, UBIQUITOUS;; MTCK, PLACENTAL;; CREATINE KINASE, MITOCHONDRIAL 1, CENTROMERIC COPY;; CKMT1, CENTROMERIC COPY;; CREATINE KINASE, MITOCHONDRIAL 1, FORMERLY; CKMT1, FORMERLY
Asterisk 123295 CREATINE KINASE, MITOCHONDRIAL 2; CKMT2 CREATINE KINASE, SARCOMERIC MITOCHONDRIAL; CKMTS
Asterisk 123310 CREATINE KINASE, MUSCLE TYPE; CKM CKMM
Number Sign 123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM CPK, ELEVATED SERUM;; HYPERCKEMIA, IDIOPATHIC
Number Sign 123400 CREUTZFELDT-JAKOB DISEASE; CJD CREUTZFELDT-JAKOB DISEASE, FAMILIAL CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED; sCJD, INCLUDED;; CREUTZFELDT-JAKOB DISEASE, VARIANT, INCLUDED; vCJD, INCLUDED;; CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT, INCLUDED
Number Sign 123450 CRI-DU-CHAT SYNDROME CAT CRY SYNDROME;; CHROMOSOME 5p DELETION SYNDROME
Number Sign 123500 CROUZON SYNDROME CRANIOFACIAL DYSOSTOSIS, TYPE I; CFD1;; CROUZON CRANIOFACIAL DYSOSTOSIS
NULL 123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY
Percent 123550 CRYOGLOBULINEMIA, FAMILIAL MIXED MELTZER SYNDROME
Caret 123555 MOVED TO 125220
NULL 123557 CRYPTOTIA, FAMILIAL
NULL 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME
Percent 123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED ANKYLOBLEPHARON, SIMPLE;; CRYPTOPHTHALMOS WITH MICROPHTHALMIA AND PETERS ANOMALY
Asterisk 123580 CRYSTALLIN, ALPHA-A; CRYAA CRYSTALLIN, ALPHA-1; CRYA1;; HEAT-SHOCK PROTEIN BETA-4; HSPB4
Asterisk 123590 CRYSTALLIN, ALPHA-B; CRYAB CRYSTALLIN, ALPHA-2; CRYA2;; HEAT-SHOCK PROTEIN BETA-5; HSPB5
Asterisk 123610 CRYSTALLIN, BETA-A1; CRYBA1 CRYSTALLIN, BETA-1; CRYB1;; CRYSTALLIN, BETA-A1/A3
Asterisk 123620 CRYSTALLIN, BETA-B2; CRYBB2 CRYSTALLIN, BETA-2; CRYB2 CRYBB2P1, INCLUDED
Asterisk 123630 CRYSTALLIN, BETA-B3; CRYBB3 CRYSTALLIN, BETA-3; CRYB3
Asterisk 123631 CRYSTALLIN, BETA-A4; CRYBA4
Asterisk 123660 CRYSTALLIN, GAMMA-A; CRYGA CRYSTALLIN, GAMMA-1; CRYG1 CRYSTALLIN, GAMMA-E PSEUDOGENE 1, INCLUDED; CRYGEP1, INCLUDED;; CRYG5, INCLUDED
Asterisk 123670 CRYSTALLIN, GAMMA-B; CRYGB CRYSTALLIN, GAMMA-2; CRYG2
Asterisk 123680 CRYSTALLIN, GAMMA-C; CRYGC CRYSTALLIN, GAMMA-3; CRYG3
Asterisk 123690 CRYSTALLIN, GAMMA-D; CRYGD CRYSTALLIN, GAMMA-4; CRYG4
Asterisk 123691 CRYSTALLIN, ZETA; CRYZ QUINONE OXIDOREDUCTASE
Asterisk 123695 PHOSPHATE CYTIDYLYLTRANSFERASE 1, CHOLINE, ALPHA ISOFORM; PCYT1A PHOSPHATE CYTIDYLYLTRANSFERASE 1, CHOLINE; PCYT1;; CYTIDYLYLTRANSFERASE, CTP-PHOSPHOCHOLINE; CTPCT;; CHOLINE-PHOSPHATE CYTIDYLYLTRANSFERASE;; CCT-ALPHA
Number Sign 123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1
Caret 123710 MOVED TO 123660
Caret 123720 MOVED TO 123660
Asterisk 123730 CRYSTALLIN, GAMMA-S; CRYGS CRYSTALLIN, GAMMA-8; CRYG8
Asterisk 123740 CRYSTALLIN, MU; CRYM
Number Sign 123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS BEARE-STEVENSON SYNDROME;; CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON
Asterisk 123803 ACTIVATING TRANSCRIPTION FACTOR 1; ATF1 cAMP-DEPENDENT TRANSCRIPTION FACTOR 1 ATF1/EWS FUSION GENE, INCLUDED;; ATF1/FUS FUSION GENE, INCLUDED
Asterisk 123805 PHOSPHODIESTERASE 3A, cGMP-INHIBITED; PDE3A cAMP PHOSPHODIESTERASE, MYOCARDIAL cGMP-INHIBITED
Asterisk 123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1 CREB CREB/EWS FUSION GENE, INCLUDED
Asterisk 123811 ACTIVATING TRANSCRIPTION FACTOR 2; ATF2 CREBP1;; cAMP RESPONSE ELEMENT-BINDING PROTEIN 2, FORMERLY; CREB2, FORMERLY
Asterisk 123812 cAMP RESPONSE ELEMENT MODULATOR; CREM INDUCIBLE cAMP EARLY REPRESSOR, INCLUDED; ICER, INCLUDED
Asterisk 123825 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1 CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 1; CNCG1;; CNCG;; RETINAL ROD cGMP-GATED CHANNEL, ALPHA SUBUNIT
Asterisk 123828 CYCLIN-DEPENDENT KINASE 3; CDK3 CELL DIVISION KINASE 3
Asterisk 123829 CYCLIN-DEPENDENT KINASE 4; CDK4 CELL DIVISION KINASE 4;; PSK-J3
Asterisk 123830 CYCLIC NUCLEOTIDE PHOSPHODIESTERASE; CNP CNP1;; 2-PRIME,3-PRIME CYCLIC NUCLEOTIDE 3-PRIME PHOSPHOHYDROLASE
Asterisk 123831 CYCLIN-DEPENDENT KINASE 5; CDK5 CELL DIVISION KINASE 5;; PSSALRE
Asterisk 123832 CYCLIN-DEPENDENT KINASE INHIBITOR 3; CDKN3 CYCLIN-DEPENDENT KINASE INTERACTOR 1; CDI1
Asterisk 123833 CYCLIN D2; CCND2
Asterisk 123834 CYCLIN D3; CCND3
Asterisk 123835 CYCLIN A2; CCNA2 CYCLIN A; CCNA
Asterisk 123836 CYCLIN B1; CCNB1 CYCLIN B; CCNB
Asterisk 123837 CYCLIN E1; CCNE1 CYCLIN E; CCNE
Asterisk 123838 CYCLIN C; CCNC
Caret 123839 MOVED TO 600262
Asterisk 123840 PEPTIDYL-PROLYL ISOMERASE A; PPIA CYCLOPHILIN A; CYPA;; CYPH
Asterisk 123841 PEPTIDYL-PROLYL ISOMERASE B; PPIB CYCLOPHILIN B; CYPB
Asterisk 123842 PEPTIDYL-PROLYL ISOMERASE C; PPIC CYCLOPHILIN C; CYPC
Caret 123850 MOVED TO 132700
NULL 123853 CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME
Asterisk 123855 CYSTATIN 1; CST1 CYSTATIN SN
Asterisk 123856 CYSTATIN 2; CST2 CYSTATIN SA
Asterisk 123857 CYSTATIN 4; CST4 CYSTATIN S
Asterisk 123858 CYSTATIN 5; CST5 CYSTATIN D
Asterisk 123859 CYSTEINYL-tRNA SYNTHETASE; CARS CYSRS CARS/ALK FUSION GENE, INCLUDED
Asterisk 123860 CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 1; CTPS1 CTPS;; CTP SYNTHETASE;; CTP SYNTHASE
Asterisk 123864 CYTOCHROME c OXIDASE, SUBUNIT 4I1; COX4I1 CYTOCHROME c OXIDASE, SUBUNIT IV, ISOFORM 1;; CYTOCHROME c OXIDASE, SUBUNIT IV; COX4
Asterisk 123866 CYTOCHROME c OXIDASE, SUBUNIT 5B; COX5B CYTOCHROME c OXIDASE, SUBUNIT Vb
Asterisk 123870 CYTOCHROME c OXIDASE, SUBUNIT 8A; COX8A CYTOCHROME c OXIDASE, SUBUNIT VIII, A
Asterisk 123875 CYSTEINE-RICH INTESTINAL PROTEIN 1; CRIP1 CYSTEINE-RICH INTESTINAL PROTEIN; CRIP;; CYSTEINE-RICH HEART PROTEIN; CRHP
Asterisk 123876 CYSTEINE- AND GLYCINE-RICH PROTEIN 1; CSRP1 CYSTEINE-RICH PROTEIN 1; CRP1;; CYSTEINE-RICH PROTEIN; CSRP; CRP
NULL 123880 CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE GORHAM-STOUT DISEASE; GSD;; OSTEOLYSIS, MASSIVE
Asterisk 123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8 CYSTIC FIBROSIS ANTIGEN; CFAG;; CALGRANULIN A; CAGA; CGLA;; MYELOID-RELATED PROTEIN 8; MRP8 S100A8/S100A9 COMPLEX, INCLUDED;; CALPROTECTIN, INCLUDED
Asterisk 123886 S100 CALCIUM-BINDING PROTEIN A9; S100A9 CYSTIC FIBROSIS ANTIGEN B;; CALGRANULIN B; CAGB; CGLB;; MYELOID-RELATED PROTEIN 14; MRP14 S100A9/S100A8 COMPLEX, INCLUDED;; CALPROTECTIN, INCLUDED
Asterisk 123889 INTERLEUKIN 10 RECEPTOR, BETA; IL10RB IL10R2;; CYTOKINE RECEPTOR FAMILY II, MEMBER 4; CRFB4
Asterisk 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4 CD152 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4, SOLUBLE ISOFORM, INCLUDED
Asterisk 123900 EZRIN; EZR VILLIN 2; VIL2;; CYTOVILLIN; CVIL; CVL
Asterisk 123910 GRANZYME B; GZMB CYTOTOXIC T-LYMPHOCYTE-ASSOCIATED SERINE ESTERASE 1; CTLA1;; GRANZYME 2;; PROTEASE, SERINE, B; CSPB;; CATHEPSIN G-LIKE 1; CGL1
Asterisk 123920 CYTIDINE DEAMINASE; CDA
Asterisk 123930 CYTOCHROME P450, SUBFAMILY IIB, POLYPEPTIDE 6; CYP2B6 CYTOCHROME P450, PHENOBARBITAL-INDUCIBLE
Asterisk 123940 KERATIN 4, TYPE II; KRT4 K4;; KB4;; CYTOKERATIN 4; CYK4; CK4
Caret 123950 MOVED TO 250790
Caret 123960 MOVED TO 122720
Asterisk 123970 CYTOCHROME C, SOMATIC; CYCS CYTOCHROME C; CYC
Asterisk 123980 CYTOCHROME C1; CYC1
Asterisk 123995 CYTOCHROME c OXIDASE, SUBUNIT 7A1; COX7A1 CYTOCHROME c OXIDASE, SUBUNIT VIIa, POLYPEPTIDE 1;; CYTOCHROME c OXIDASE, SUBUNIT VIIa, MUSCLE ISOFORM; COX7AM
Asterisk 123996 CYTOCHROME c OXIDASE, SUBUNIT 7A2; COX7A2 CYTOCHROME c OXIDASE, SUBUNIT VIIa, POLYPEPTIDE 2;; CYTOCHROME c OXIDASE, SUBUNIT VIIa, LIVER ISOFORM 1;; COX7AL; COX7AL1
NULL 123997 CYTOCHROME c OXIDASE, SUBUNIT 7A2, PSEUDOGENE 2; COX7A2P2 CYTOCHROME c OXIDASE, SUBUNIT VIIa, POLYPEPTIDE 3; COX7A3;; CYTOCHROME c OXIDASE, SUBUNIT VIIa, LIVER ISOFORM 2; COX7AL2
Number Sign 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1
Asterisk 124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4 CYP3; CYP3A;; P450, FAMILY III;; P450-III, STEROID-INDUCIBLE;; GLUCOCORTICOID-INDUCIBLE P450; P450C3;; CYTOCHROME P450PCN1;; NIFEDIPINE OXIDASE
Asterisk 124015 CYTOCHROME P450 OXIDOREDUCTASE; POR CYTOCHROME P450 REDUCTASE
Asterisk 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 MEPHENYTOIN 4-PRIME-HYDROXYLASE;; P450C2C;; CYP2C
Asterisk 124030 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 CPD6;; P450DB1;; DEBRISOQUINE 4-HYDROXYLASE
Asterisk 124040 CYTOCHROME P450, SUBFAMILY IIE; CYP2E1 P450C2E;; ETHANOL-INDUCIBLE P450
Asterisk 124050 D-AMINO ACID OXIDASE; DAO DAMOX;; DAAO
Plus 124060 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2 CYTOCHROME P-450, AROMATIC COMPOUND-INDUCIBLE;; DIOXIN-INDUCIBLE P3-450 PHENACETIN METABOLISM, DEFECT IN, INCLUDED;; PHENACETIN O-DEETHYLASE, DEFICIENCY OF, INCLUDED
Asterisk 124070 CYTOCHROME P450, SUBFAMILY IIF, POLYPEPTIDE 1; CYP2F1
Asterisk 124075 CYTOCHROME P450, SUBFAMILY IVB, MEMBER 1; CYP4B1
Asterisk 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2 STEROID 11/18-BETA-HYDROXYLASE;; STEROID 18-OXIDASE;; ALDOSTERONE SYNTHASE; ALDOS CORTICOSTERONE METHYLOXIDASE I, INCLUDED;; CMO I, INCLUDED;; CORTICOSTERONE METHYLOXIDASE II, INCLUDED;; CMO II, INCLUDED;; ALDOSTERONE TO RENIN RATIO, INCREASED, INCLUDED
Asterisk 124089 CYTOCHROME c OXIDASE, SUBUNIT 6B1; COX6B1 CYTOCHROME c OXIDASE, SUBUNIT VIb, POLYPEPTIDE 1;; CYTOCHROME c OXIDASE, SUBUNIT VIb; COX6B
Asterisk 124090 CYTOCHROME c OXIDASE, SUBUNIT 6C; COX6C CYTOCHROME c OXIDASE, SUBUNIT VIc COX6C/HMGIC FUSION GENE, INCLUDED
Asterisk 124092 INTERLEUKIN 10; IL10 CYTOKINE SYNTHESIS INHIBITORY FACTOR; CSIF
Asterisk 124095 CYTOPLASMIC TYROSINE KINASE; CSK c-SRC TYROSINE KINASE
Asterisk 124097 D SITE OF ALBUMIN PROMOTER-BINDING PROTEIN; DBP DABP;; TRANSCRIPTION FACTOR DBP
NULL 124100 DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY DEFN;; BALKAN ENDEMIC NEPHROPATHY; BEN;; NEPHROPATHIA EPIDEMICA
Number Sign 124200 DARIER-WHITE DISEASE; DAR KERATOSIS FOLLICULARIS;; DARIER DISEASE; DD DARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDED;; DARIER DISEASE, SEGMENTAL, INCLUDED
Percent 124300 DARWINIAN TUBERCLE OF PINNA DARWINIAN POINT OF PINNA DARWINIAN NOTCH, INCLUDED
NULL 124400 DARWINIAN TUBERCLE OF PINNA
Asterisk 124450 D-ASPARTATE OXIDASE; DDO DASOX
Number Sign 124480 DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD DDOD SYNDROME
NULL 124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY
Number Sign 124500 VOHWINKEL SYNDROME; VOWNKL DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES;; MUTILATING KERATODERMA;; KERATODERMA HEREDITARIUM MUTILANS; KHM
Caret 124580 REMOVED FROM DATABASE
Percent 124700 DEAFNESS, MID-TONE NEURAL
Caret 124800 MOVED TO 600994
Number Sign 124900 DEAFNESS, AUTOSOMAL DOMINANT 1; DFNA1 KONIGSMARK SYNDROME;; DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
Caret 124910 MOVED TO 124900
NULL 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE
NULL 125000 DEAFNESS, UNILATERAL
NULL 125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA
Caret 125100 MOVED TO 602588
Asterisk 125220 DEFENSIN, ALPHA, 1; DEFA1 DEFENSIN 1; DEF1;; HUMAN NEUTROPHIL PEPTIDE 1; HNP1;; MYELOID-RELATED SEQUENCE; MRS DEFENSIN, ALPHA, 2, INCLUDED; DEFA2, INCLUDED;; HUMAN NEUTROPHIL PEPTIDE 2, INCLUDED; HNP2, INCLUDED;; CRYPTDIN, INCLUDED;; RETROCYCLIN, INCLUDED
NULL 125230 DEAFNESS-CRANIOFACIAL SYNDROME
Asterisk 125240 CD55 ANTIGEN; CD55 DECAY-ACCELERATING FACTOR FOR COMPLEMENT; DAF
Number Sign 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY DOMINANT OPTIC ATROPHY PLUS SYNDROME; DOA+
Asterisk 125255 DECORIN; DCN DERMATAN SULFATE PROTEOGLYCAN 2; DSPG2;; PROTEOGLYCAN II;; PG II;; PG40
Percent 125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF DIPI, CONTROL OF;; HOMOLOGOUS VIRAL INTERFERENCE;; VESICULAR STOMATITIS VIRUS DEFECTIVE INTERFERING PARTICLE REPRESSOR; VDI
Asterisk 125263 SULFOTRANSFERASE FAMILY 2A, DEHYDROEPIANDROSTERONE-PREFERRING, MEMBER 1; SULT2A1 SULFOTRANSFERASE, DEHYDROEPIANDROSTERONE-PREFERRING; STD;; DHEA SULFOTRANSFERASE; DHEAST;; DEHYDROEPIANDROSTERONE SULFOTRANSFERASE
Asterisk 125264 DEK ONCOGENE; DEK D6S231E DEK/NUP214 FUSION GENE, INCLUDED
Asterisk 125265 RECEPTOR EXPRESSION-ENHANCING PROTEIN 5; REEP5 DELETED IN POLYPOSIS 1; DP1;; TB2;; D5S346;; YOP1, S. CEREVISIAE, HOMOLOG OF; YOP1;; CHROMOSOME 5 OPEN READING FRAME 18; C5ORF18
Asterisk 125270 DELTA-AMINOLEVULINATE DEHYDRATASE; ALAD ALADH;; PORPHOBILINOGEN SYNTHASE; PBGS
NULL 125280 DENS EVAGINATUS
Asterisk 125290 DELTA-AMINOLEVULINATE SYNTHASE 1; ALAS1 ALAS;; ALAS, HOUSEKEEPING TYPE; ALASH
NULL 125300 DENS IN DENTE AND PALATAL INVAGINATIONS
Asterisk 125305 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.9; EPB49 DEMATIN
Number Sign 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1 CADASIL;; DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;; CASIL
NULL 125320 DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES
Number Sign 125350 FAILURE OF TOOTH ERUPTION, PRIMARY; PFE PRIMARY FAILURE OF ERUPTION, NONSYNDROMIC;; PRIMARY RETENTION OF TEETH;; UNERUPTED SECOND PRIMARY MOLAR;; POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL;; DENTAL NONERUPTION
Number Sign 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA MYOCLONIC EPILEPSY WITH CHOREOATHETOSIS;; NAITO-OYANAGI DISEASE; NOD;; HAW RIVER SYNDROME; HRS;; ATAXIA, CHOREA, SEIZURES, AND DEMENTIA
Number Sign 125400 DENTIN DYSPLASIA, TYPE I; DTDP1 DENTIN DYSPLASIA, SHIELDS TYPE I;; ROOTLESS TEETH;; RADICULAR DENTIN DYSPLASIA DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH, INCLUDED
Number Sign 125420 DENTIN DYSPLASIA, TYPE II; DTDP2 DENTIN DYSPLASIA, SHIELDS TYPE II;; CORONAL DENTIN DYSPLASIA;; ANOMALOUS DYSPLASIA OF DENTIN;; PULPAL DYSPLASIA;; PULP STONES
Percent 125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES
Asterisk 125450 DEOXYCYTIDINE KINASE; DCK
NULL 125460 DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY
Percent 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1 MANIC-DEPRESSIVE PSYCHOSIS; MD1;; BIPOLAR AFFECTIVE DISORDER; BPAD;; MANIC-DEPRESSIVE PSYCHOSIS, AUTOSOMAL
Asterisk 125485 DENTIN SIALOPHOSPHOPROTEIN; DSPP DENTIN PHOSPHOPROTEIN, INCLUDED; DPP, INCLUDED;; DENTIN PHOSPHOPHORYN, INCLUDED;; DENTIN SIALOPROTEIN, INCLUDED; DSP, INCLUDED
Number Sign 125490 DENTINOGENESIS IMPERFECTA 1; DGI1 OPALESCENT DENTIN;; DENTINOGENESIS IMPERFECTA WITHOUT OSTEOGENESIS IMPERFECTA;; OPALESCENT TEETH WITHOUT OSTEOGENESIS IMPERFECTA;; DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II;; DGI-II;; CAPDEPONT TEETH
Number Sign 125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III DGI-III;; BRANDYWINE TYPE DENTINOGENESIS IMPERFECTA
Asterisk 125505 DEOXYRIBONUCLEASE I; DNASE1 DNase I, LYSOSOMAL; DNL1
Caret 125510 REMOVED FROM DATABASE
Percent 125520 CAYLER CARDIOFACIAL SYNDROME DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF;; ASYMMETRIC CRYING FACIES; ACF;; FACIAL PARESIS, PARTIAL, UNILATERAL
NULL 125530 DERMAL RIDGES, NELSON SYNDROME
Percent 125540 DERMAL RIDGES, PATTERNLESS
Percent 125550 DERMAL RIDGES-OFF-THE-END; ROES RIDGES-OFF-THE-END SYNDROME
NULL 125570 DERMATOGLYPHICS--ARCH ON ANY DIGIT
NULL 125580 DERMATOGLYPHICS--FINGER RIDGE COUNT
Percent 125590 DERMATOGLYPHICS--FINGERPRINT PATTERN
Number Sign 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR
Asterisk 125597 DERMATOPONTIN; DPT
NULL 125600 DERMATOSIS PAPULOSA NIGRA
Number Sign 125630 VIBRATORY URTICARIA; VBU DERMODISTORTIVE URTICARIA; DDU;; VIBRATORY ANGIOEDEMA
NULL 125635 DERMOGRAPHISM, FAMILIAL DERMATOGRAPHISM, FAMILIAL
Percent 125640 DERMOODONTODYSPLASIA ECTODERMAL DYSPLASIA, HAIR-NAIL-TOOTH TYPE
Asterisk 125643 DESMOCOLLIN 1; DSC1
Asterisk 125645 DESMOCOLLIN 2; DSC2 DESMOCOLLIN 3, FORMERLY; DSC3, FORMERLY;; DESMOSOMAL GLYCOPROTEIN II/III; DG2/3; DG2
Asterisk 125647 DESMOPLAKIN; DSP DESMOPLAKIN I, INCLUDED; DSPI, INCLUDED;; DESMOPLAKIN II, INCLUDED; DSPII, INCLUDED
Caret 125650 MOVED TO 606418
Asterisk 125660 DESMIN; DES
Asterisk 125670 DESMOGLEIN 1; DSG1 PEMPHIGUS FOLIACEUS ANTIGEN; PFA
Asterisk 125671 DESMOGLEIN 2; DSG2 HUMAN DESMOGLEIN COLON; HDGC
Number Sign 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL DIABETES INSIPIDUS, PRIMARY CENTRAL; CDI;; DIABETES INSIPIDUS, CRANIAL TYPE
Number Sign 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DIABETES INSIPIDUS, NEPHROGENIC, TYPE II
Number Sign 125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1 MODY, TYPE 1;; MILD JUVENILE DIABETES MELLITUS
Number Sign 125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 MODY, TYPE 2;; MODY, GLUCOKINASE-RELATED
Number Sign 125852 DIABETES MELLITUS, INSULIN-DEPENDENT, 2 INSULIN-DEPENDENT DIABETES MELLITUS 2; IDDM2
Number Sign 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM DIABETES MELLITUS, TYPE II; T2D;; NONINSULIN-DEPENDENT DIABETES MELLITUS;; MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO, INCLUDED;; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST, INCLUDED
Asterisk 125855 DIACYLGLYCEROL KINASE, ALPHA, 80-KD; DGKA DIACYLGLYCEROL KINASE, ALPHA; DAGK1;; DAGK, 80-KD;; DGK-ALPHA
Plus 125860 NAD(P)H DEHYDROGENASE, QUINONE 1; NQO1 NAD(P)H:MENADIONE OXIDOREDUCTASE 1, DIOXIN-INDUCIBLE 1; NMOR1;; DIAPHORASE 4; DIA4;; DT DIAPHORASE; DTD BENZENE TOXICITY, SUSCEPTIBILITY TO, INCLUDED;; LEUKEMIA, POST-CHEMOTHERAPY, SUSCEPTIBILITY TO, INCLUDED;; BREAST CANCER, POST-CHEMOTHERAPY SURVIVAL IN, INCLUDED
Caret 125870 MOVED TO 600941
Asterisk 125880 DIAPHORASE 3; DIA3 SPERM DIAPHORASE;; GONADAL DIAPHORASE
NULL 125890 DIARRHEA, GLUCOSE-STIMULATED SECRETORY, WITH COMMON VARIABLE IMMUNODEFICIENCY
NULL 125900 DIASTEMA, DENTAL MEDIAL
Asterisk 125950 DIAZEPAM BINDING INHIBITOR; DBI ACYL-CoA BINDING PROTEIN; ACBP;; CHOLECYSTOKININ-RELEASING PEPTIDE, TRYPSIN-SENSITIVE
Percent 126050 DIGITOTALAR DYSMORPHISM ULNAR DRIFT, HEREDITARY
Asterisk 126060 DIHYDROFOLATE REDUCTASE; DHFR DIHYDROFOLATE REDUCTASE PSEUDOGENES, INCLUDED;; DHFR PSEUDOGENES, INCLUDED
Caret 126061 MOVED TO 126060
Asterisk 126063 DIHYDROLIPOAMIDE S-SUCCINYLTRANSFERASE; DLST ALPHA-KETOGLUTARATE DEHYDROGENASE COMPLEX, E2 COMPONENT
Asterisk 126064 DIHYDROOROTATE DEHYDROGENASE; DHODH DHOdehase;; URA1, YEAST, HUMAN COMPLEMENT OF
Asterisk 126065 CYTOCHROME P450, FAMILY 24, SUBFAMILY A, POLYPEPTIDE 1; CYP24A1 CYTOCHROME P450, SUBFAMILY XXIV; CYP24;; 1,25-DIHYDROXYVITAMIN D3 24-HYDROXYLASE;; VITAMIN D 24-HYDROXYLASE
Percent 126070 DILUTION, PIGMENTARY ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT;; ALBINISM, PARTIAL;; HYPOPIGMENTATION
Asterisk 126090 PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE 1; PCBD1 PCBD;; DIMERIZATION COFACTOR OF HEPATIC NUCLEAR FACTOR 1-ALPHA; DCOH
NULL 126100 DIMPLES, FACIAL CHEEK DIMPLES;; SMILING DIMPLES
Asterisk 126110 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR; ARNT DIOXIN RECEPTOR, NUCLEAR TRANSLOCATOR;; HYPOXIA-INDUCIBLE FACTOR 1, BETA SUBUNIT; HIF1B;; HIF1-BETA;; TANGO ARNT/TEL FUSION GENE, INCLUDED
Caret 126140 MOVED TO 102720
Asterisk 126141 DIPEPTIDYL PEPTIDASE VI; DPP6 DIPEPTIDYL PEPTIDASE IV-RELATED PROTEIN;; DPPX
Asterisk 126150 HEPARIN-BINDING EGF-LIKE GROWTH FACTOR; HBEGF HEPARIN-BINDING EGF;; HEGFL;; DIPHTHERIA TOXIN RECEPTOR; DTR
NULL 126180 DISCRIMINATION, TWO-POINT, REDUCTION IN SENSORY DISCRIMINATION
NULL 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS
Number Sign 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS DISSEMINATED SCLEROSIS MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1, INCLUDED; MS1, INCLUDED
NULL 126250 DISTAL OSTEOSCLEROSIS OSTEOSCLEROSIS, DISTAL
Asterisk 126255 DISTAL-LESS HOMEOBOX 2; DLX2 TES1
Percent 126300 DISTICHIASIS EYELASHES, TWO ROWS OF
NULL 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE
Asterisk 126330 DNA, CYTOPLASMIC-MEMBRANE; DNCM cmDNA
Asterisk 126335 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, ALPHA; GADD45A DNA DAMAGE-INDUCIBLE TRANSCRIPT 1; DDIT1;; DNA DAMAGE-INDUCIBLE GENE GADD45; GADD45
Asterisk 126337 DNA DAMAGE-INDUCIBLE TRANSCRIPT 3; DDIT3 C/EBP-HOMOLOGOUS PROTEIN; CHOP;; GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD153; GADD153 CHOP/FUS FUSION GENE, INCLUDED;; CHOP/EWS FUSION GENE, INCLUDED
Asterisk 126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 DNA REPAIR DEFECT EM9 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION OF; EM9;; XPD GENE; XPD
Asterisk 126350 DEOXYRIBONUCLEASE II, LYSOSOMAL; DNASE2 DNase II, LYSOSOMAL; DNL2
NULL 126370 DNA, SATELLITE, III; HS3; D1Z1
Asterisk 126375 DNA METHYLTRANSFERASE 1; DNMT1 DNA METHYLTRANSFERASE; DNMT;; DNA CYTOSINE-5-METHYLTRANSFERASE; MCMT;; CXXC FINGER PROTEIN 9; CXXC9
Asterisk 126380 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; ERCC1 DNA REPAIR DEFECT UV-20 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION OF; UV20
NULL 126390 DNA, LOW-REPETITIVE SEQUENCES OF REPETITIVE SEQUENCE DNA
Asterisk 126391 LIGASE I, DNA, ATP-DEPENDENT; LIG1 DNA LIGASE I
NULL 126410 DNA, SATELLITE, ALPHA TYPE
Asterisk 126420 TOPOISOMERASE, DNA, I; TOP1 TOP1/NUP98 FUSION GENE, INCLUDED
Asterisk 126430 TOPOISOMERASE, DNA, II, ALPHA; TOP2A DNA TOPOISOMERASE II; TOP2
Asterisk 126431 TOPOISOMERASE, DNA, II, BETA; TOP2B
Caret 126440 REMOVED FROM DATABASE
Caret 126448 MOVED TO 126453
Asterisk 126449 DOPAMINE RECEPTOR D1; DRD1 DOPAMINE RECEPTOR D1A; DRD1A
Asterisk 126450 DOPAMINE RECEPTOR D2; DRD2 D2R
Asterisk 126451 DOPAMINE RECEPTOR D3; DRD3
Asterisk 126452 DOPAMINE RECEPTOR D4; DRD4 D4DR
Plus 126453 DOPAMINE RECEPTOR D5; DRD5 DOPAMINE RECEPTOR D1B; DRD1B DYSTONIA, PRIMARY CERVICAL, INCLUDED
Asterisk 126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE), MEMBER 3; SLC6A3 DOPAMINE TRANSPORTER; DAT;; DAT1
NULL 126500 DOUBLE NAIL FOR FIFTH TOE
Percent 126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL
Number Sign 126600 DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD DOYNE HONEYCOMB DEGENERATION OF RETINA; DHD MALATTIA LEVENTINESE, INCLUDED; MLVT, INCLUDED;; DRUSEN, RADIAL, AUTOSOMAL DOMINANT, INCLUDED
Asterisk 126650 SOLUTE CARRIER FAMILY 26, MEMBER 3; SLC26A3 DOWNREGULATED IN ADENOMA; DRA
Asterisk 126660 DREBRIN E; DBN1
Number Sign 126700 BASAL LAMINAR DRUSEN DRUSEN OF BRUCH MEMBRANE;; DRUSEN, CUTICULAR;; DRUSEN, EARLY ADULT-ONSET, GROUPED
Percent 126800 DUANE RETRACTION SYNDROME 1; DURS1 DRS;; DUANE SYNDROME; DUS;; DUANE ANOMALY;; RETRACTION SYNDROME
Caret 126830 MOVED TO 169100
NULL 126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION
Percent 126850 DUODENAL ULCER, HYPERPEPSINOGENEMIC I
Percent 126900 DUPUYTREN CONTRACTURE DUPUYTREN CONTRACTURE 1, INCLUDED; DUPC1, INCLUDED;; PLANTAR FIBROMAS, INCLUDED;; PLANTAR FIBROMATOSIS, FAMILIAL, INCLUDED
NULL 126950 DWARFISM WITH TALL VERTEBRAE
Number Sign 127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2 DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;; KENNY SYNDROME
NULL 127100 DWARFISM, LEVI TYPE SNUB-NOSED TYPE OF DWARFISM
NULL 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES MOORE-FEDERMAN SYNDROME
Number Sign 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD DYSCHONDROSTEOSIS; DCO MADELUNG DEFORMITY, INCLUDED
NULL 127350 DYSCHONDROSTEOSIS AND NEPHRITIS
Number Sign 127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1; DSH1;; RETICULATE ACROPIGMENTATION OF DOHI; RAD;; SYMMETRIC DYSCHROMATOSIS OF THE EXTREMITIES
Percent 127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1
Number Sign 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1 DYSKERATOSIS CONGENITA, SCOGGINS TYPE
Percent 127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; HBID DKBI
Number Sign 127700 DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1 WORD-BLINDNESS, CONGENITAL;; READING DISABILITY, SPECIFIC, 1 DYSLEXIA, SUSCEPTIBILITY TO, 4, INCLUDED; DYX4, INCLUDED;; DYSLEXIA, SUSCEPTIBILITY TO, 7, INCLUDED; DYX7, INCLUDED
Number Sign 127750 DEMENTIA, LEWY BODY; DLB LEWY BODY DEMENTIA;; DIFFUSE LEWY BODY DISEASE DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY, INCLUDED;; LEWY BODY VARIANT OF ALZHEIMER DISEASE, INCLUDED
NULL 127800 DYSPLASIA EPIPHYSEALIS HEMIMELICA TREVOR DISEASE
NULL 127820 DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS OSTEOCHONDROMATOSIS, DOMINANT CARPOTARSAL
Percent 128000 DYSTELEPHALANGY KIRNER DEFORMITY
Number Sign 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1 DYSTONIA MUSCULORUM DEFORMANS 1;; EARLY-ONSET TORSION DYSTONIA; EOTD
Number Sign 128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4 WHISPERING DYSPHONIA, HEREDITARY;; DYSTONIA MUSCULORUM DEFORMANS 4
Number Sign 128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1 PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC;; PAROXYSMAL KINESIGENIC DYSKINESIA; PKD;; DYSTONIA, FAMILIAL PAROXYSMAL;; DYSTONIA 10; DYT10
Number Sign 128230 DYSTONIA, DOPA-RESPONSIVE; DRD DYSTONIA 5; DYT5;; DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION;; DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION;; SEGAWA SYNDROME, AUTOSOMAL DOMINANT;; DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT;; DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT
Number Sign 128235 DYSTONIA 12; DYT12 DYSTONIA-PARKINSONISM, RAPID-ONSET; RDP
Asterisk 128239 DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1 DAG;; DYSTROGLYCAN, ALPHA;; AGRIN RECEPTOR; AGRNR DYSTROGLYCAN, BETA, INCLUDED
Asterisk 128240 UTROPHIN; UTRN DYSTROPHIN-LIKE PROTEIN; DMDL;; DYSTROPHIN-RELATED PROTEIN 1; DRP1;; DRP
Asterisk 128260 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE E; SNRPE E PROTEIN OF SMALL NUCLEAR RIBONUCLEOPROTEIN COMPLEXES
NULL 128290 EAR ANTITRAGUS, TAG AT BASE OF
NULL 128300 EAR EXOSTOSES EXOSTOSES OF EXTERNAL AUDITORY CANAL
NULL 128400 EAR FLARE
NULL 128500 EAR FOLDING
Percent 128600 EAR MALFORMATION CUP EAR
Percent 128700 PREAURICULAR FISTULAE, CONGENITAL PAFC;; EAR PITS
NULL 128710 EAR PITS, POSTERIOR HELICAL POSTERIOR HELICAL EAR PITS; PHEP EARLOBE INDENTATIONS, POSTERIOR, INCLUDED
NULL 128800 EAR WITHOUT HELIX
NULL 128900 EARLOBE ATTACHMENT, ATTACHED VS UNATTACHED
NULL 128950 EARLOBE CREASE
Percent 128980 EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL ABNORMALITIES
Asterisk 128990 EARLY GROWTH RESPONSE 1; EGR1 KROX24;; NERVE GROWTH FACTOR-INDUCED CLONE A; NGFIA;; ZIF268
Asterisk 128992 EARLY GROWTH RESPONSE 4; EGR4 NERVE GROWTH FACTOR-INDUCED CLONE C; NGFIC
NULL 129000 EARRING HOLES, NATURAL EARLOBE SINUSES
Asterisk 129010 EARLY GROWTH RESPONSE 2; EGR2 KROX20
NULL 129100 EARS, ABILITY TO MOVE
Percent 129150 ECHO VIRUS 11 SENSITIVITY; E11S
Asterisk 129190 ECTO-5-PRIME NUCLEOTIDASE; NT5E E5NT; ENT; NTE;; NUCLEOTIDASE, ECTO-5-PRIME; NT5;; CD73
Number Sign 129200 BASAN SYNDROME ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITAL CONTRACTURES, AND NAIL ABNORMALITIES;; ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE
Number Sign 129400 RAPP-HODGKIN SYNDROME; RHS ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE OROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED;; CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED
Number Sign 129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED
Number Sign 129500 CLOUSTON SYNDROME ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;; CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;; ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY
NULL 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE
NULL 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND PREAXIAL POLYDACTYLY OF FEET
NULL 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST
Number Sign 129600 ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1
NULL 129750 ECTOPIA PUPILLAE
NULL 129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE EEC SYNDROME WITHOUT CLEFT LIP/PALATE
NULL 129830 ECTRODACTYLY-CLEFT PALATE SYNDROME ECP SYNDROME
NULL 129840 EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL
Number Sign 129850 EDINBURGH MALFORMATION SYNDROME
Percent 129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 EEC;; EEC SYNDROME 1
NULL 129905 EGASYN ESTERASE 22; ES22
Number Sign 130000 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 EHLERS-DANLOS SYNDROME, TYPE I, FORMERLY; EDS1, FORMERLY;; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE, FORMERLY;; EDS I, FORMERLY;; EHLERS-DANLOS SYNDROME, GRAVIS TYPE, FORMERLY
Number Sign 130010 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2; EDSCL2 EHLERS-DANLOS SYNDROME, TYPE II, FORMERLY; EDS2, FORMERLY;; EHLERS DANLOS SYNDROME, MILD CLASSIC TYPE, FORMERLY;; EDS II, FORMERLY;; EHLERS DANLOS SYNDROME, MITIS TYPE, FORMERLY
Percent 130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE; EDSHMB EHLERS-DANLOS SYNDROME, TYPE III; EDS3;; EDS III;; BENIGN HYPERMOBILITY SYNDROME
Number Sign 130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; EDS4;; EDS IV;; EHLERS-DANLOS SYNDROME, ARTERIAL TYPE;; EHLERS-DANLOS SYNDROME, ECCHYMOTIC TYPE;; EHLERS-DANLOS SYNDROME, SACK-BARABAS TYPE
Number Sign 130060 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1; EDSARTH1 EHLERS-DANLOS SYNDROME, TYPE VIIA, AUTOSOMAL DOMINANT; EDS7A;; EDS VIIA;; ARTHROCHALASIS MULTIPLEX CONGENITA;; EDS VII, MUTANT PROCOLLAGEN TYPE
Number Sign 130070 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1; EDSSPD1 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA;; PROTEODERMATAN SULFATE, DEFECTIVE BIOSYNTHESIS OF;; PDS, DEFECTIVE BIOSYNTHESIS OF;; DERMATAN SULFATE PROTEOGLYCAN;; XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY;; XGPT DEFICIENCY;; GALACTOSYLTRANSFERASE I DEFICIENCY;; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, FORMERLY; EDSP1, FORMERLY
Number Sign 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1; EDSPD1 EHLERS-DANLOS SYNDROME, TYPE VIII; EDS8;; EDS VIII;; EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE;; EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE
NULL 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED EDS, UNSPECIFIED TYPE;; EHLERS-DANLOS SYNDROME, FRIEDMAN-HARROD TYPE
NULL 130100 ELASTOSIS PERFORANS SERPIGINOSA; EPS ELASTOMA INTRAPAPILLARE PERFORANS VERRUCIFORMIS;; MIESCHER ELASTOMA
Asterisk 130120 CHYMOTRYPSIN-LIKE ELASTASE FAMILY, MEMBER 1; CELA1 ELASTASE 1; ELA1;; ELASTASE, PANCREATIC, FORMERLY
Asterisk 130130 ELASTASE, NEUTROPHIL-EXPRESSED; ELANE ELASTASE 2; ELA2;; ELASTASE, NEUTROPHIL; NE;; HNE;; ELASTASE, LEUKOCYTE;; HLE;; MEDULLASIN;; PROTEASE, SERINE, BONE MARROW
Asterisk 130135 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 1; SERPINB1 PROTEASE INHIBITOR 2, MONOCYTE/NEUTROPHIL DERIVED; ELANH2;; ELASTASE INHIBITOR, MONOCYTE/NEUTROPHIL; EI
Asterisk 130160 ELASTIN; ELN
Percent 130180 ELECTROENCEPHALOGRAM, LOW-VOLTAGE EEG, LOW-VOLTAGE; EEGL;; ELECTROENCEPHALOGRAPHIC VARIANT PATTERN 1; EEGV1
Percent 130190 ELECTROENCEPHALOGRAPHIC PATTERN, BETA FREQUENCY, QUANTITATIVE TRAIT LOCUS; EEGBQTL
NULL 130200 ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKE PHENOMENON
NULL 130300 ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS
NULL 130400 ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES
Asterisk 130410 ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE; ETFB
Asterisk 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41 PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R;; EL1 GENE
Asterisk 130590 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, ALPHA-1; EEF1A1 ELONGATION FACTOR 1, ALPHA-1;; ELONGATION FACTOR 1, ALPHA; EF1A; EEF1A CERVICAL CANCER SUPPRESSOR 3 ISOFORM, INCLUDED; CCS3, INCLUDED
Caret 130591 MOVED TO 600655
Asterisk 130592 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, DELTA; EEF1D ELONGATION FACTOR 1, DELTA; EF1D;; GUANINE NUCLEOTIDE EXCHANGE PROTEIN
Asterisk 130593 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, GAMMA; EEF1G ELONGATION FACTOR 1, GAMMA; EF1G;; EEF1B-GAMMA
Number Sign 130600 ELLIPTOCYTOSIS 2; EL2 ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
Asterisk 130610 EUKARYOTIC TRANSLATION ELONGATION FACTOR 2; EEF2 ELONGATION FACTOR 2; EF2;; POLYPEPTIDYL-tRNA TRANSLOCASE
Asterisk 130620 RIBOSOMAL PROTEIN S14; RPS14 EMETINE RESISTANCE GENE; EMTB
Number Sign 130650 BECKWITH-WIEDEMANN SYNDROME; BWS EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME;; EMG SYNDROME;; WIEDEMANN-BECKWITH SYNDROME; WBS BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED; BWCR, INCLUDED
Asterisk 130660 ELASTIN MICROFIBRIL INTERFACER 1; EMILIN1 ELASTIN MICROFIBRIL INTERFACE-LOCATED PROTEIN; EMILIN
NULL 130700 EMPHYSEMA, HEREDITARY PULMONARY
NULL 130710 EMPHYSEMA, CONGENITAL LOBAR; CLE
Number Sign 130720 LATERAL MENINGOCELE SYNDROME; LMNS LMS;; LEHMAN SYNDROME
Number Sign 130900 AMELOGENESIS IMPERFECTA, TYPE IIIA; AI3A AMELOGENESIS IMPERFECTA, TYPE III; AI3;; AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT; ADHCAI;; AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE
NULL 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD
Number Sign 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 MEN I;; ENDOCRINE ADENOMATOSIS, MULTIPLE;; MEA I;; WERMER SYNDROME MEN1 SOMATIC MUTATIONS, INCLUDED
Asterisk 131150 ENDOGENOUS RETROVIRAL SEQUENCE 1; ERV1
Asterisk 131170 ENDOGENOUS RETROVIRAL SEQUENCE 3; ERV3 HUMAN PROVIRUS-LINKED KRUPPEL; HPLK
Asterisk 131180 ENDOGENOUS RETROVIRAL POL-LIKE SEQUENCE-2; ERPL2
Asterisk 131190 ENDOGENOUS RETROVIRAL POL-LIKE SEQUENCE-1; ERPL1 ONCOGENE HLM2
Asterisk 131195 ENDOGLIN; ENG CD105
Percent 131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1 ENDO1
Asterisk 131210 SELECTIN E; SELE E-SELECTIN;; ENDOTHELIAL LEUKOCYTE ADHESION MOLECULE 1; ELAM1;; ELAM
Asterisk 131220 FIBROBLAST GROWTH FACTOR 1; FGF1 ENDOTHELIAL CELL GROWTH FACTOR; ECGF;; HEPARIN-BINDING GROWTH FACTOR 1; HBGF1;; FIBROBLAST GROWTH FACTOR, ACIDIC; FGFA; AFGF ENDOTHELIAL CELL GROWTH FACTOR, ALPHA, INCLUDED; ECGFA, INCLUDED;; ENDOTHELIAL CELL GROWTH FACTOR, BETA, INCLUDED; ECGFB, INCLUDED
Asterisk 131222 THYMIDINE PHOSPHORYLASE; TYMP TP;; ENDOTHELIAL CELL GROWTH FACTOR, PLATELET-DERIVED; ECGF; ECGF1;; PLATELET-DERIVED ENDOTHELIAL CELL GROWTH FACTOR; PDECGF;; GLIOSTATIN
Asterisk 131230 ANNEXIN A5; ANXA5 ANNEXIN V; ANX5;; ENDONEXIN II; ENX2;; PLACENTAL ANTICOAGULANT PROTEIN I;; VASCULAR ANTICOAGULANT-ALPHA;; LIPOCORTIN V;; PLACENTAL PROTEIN 4; PP4;; ANCHORIN CII
Asterisk 131235 KDEL ENDOPLASMIC RETICULUM PROTEIN RETENTION RECEPTOR 1; KDELR1 ERD2, S. CEREVISIAE, HOMOLOG OF; ERD2;; HDEL RECEPTOR, S. CEREVISIAE, HOMOLOG OF
Plus 131240 ENDOTHELIN 1; EDN1 ET1 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7, INCLUDED; HDLCQ7, INCLUDED;; PREPROENDOTHELIN 1, INCLUDED
Asterisk 131241 ENDOTHELIN 2; EDN2 ET2
Asterisk 131242 ENDOTHELIN 3; EDN3 ET3
Asterisk 131243 ENDOTHELIN RECEPTOR, TYPE A; EDNRA ENDOTHELIN RECEPTOR, ET1-SPECIFIC TYPE; ETA;; ETRA
Asterisk 131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB ENDOTHELIN RECEPTOR, NONSELECTIVE TYPE; ETB;; ETRB; ETBR
Asterisk 131290 ENGRAILED 1; EN1
Number Sign 131300 CAMURATI-ENGELMANN DISEASE; CAEND CED;; ENGELMANN DISEASE;; DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;; PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD
Asterisk 131310 ENGRAILED 2; EN2
Asterisk 131320 GATA-BINDING PROTEIN 3; GATA3 ENHANCER-BINDING PROTEIN GATA3
Asterisk 131330 PROENKEPHALIN; PENK ENKEPHALIN A;; PREPROENKEPHALIN A
Asterisk 131340 PRODYNORPHIN; PDYN ENKEPHALIN B;; PREPROENKEPHALIN B
Asterisk 131360 ENOLASE 2; ENO2 ENOLASE, GAMMA;; ENOLASE, NEURON-SPECIFIC; NSE
Asterisk 131370 ENOLASE 3; ENO3 ENOLASE, BETA;; ENOLASE, MUSCLE-SPECIFIC; MSE
NULL 131375 ENOLASE, SPERM SPECIFIC; ENO4
Asterisk 131390 NIDOGEN 1; NID1 NIDOGEN; NID;; ENTACTIN
Asterisk 131398 RIBONUCLEASE, RNase A FAMILY, 3; RNASE3 RNS3;; EOSINOPHIL CATIONIC PROTEIN; ECP
Asterisk 131399 EOSINOPHIL PEROXIDASE; EPX
Percent 131400 EOSINOPHILIA, FAMILIAL EOS
Asterisk 131410 RIBONUCLEASE, RNase A FAMILY, 2; RNASE2 RNS2;; EOSINOPHIL-DERIVED NEUROTOXIN; EDN
NULL 131430 EOSINOPHILOPENIA EOSINOPHIL APLASIA
Number Sign 131440 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA MPE; EMP;; EOSINOPHILS, MALIGNANT PROLIFERATION OF
Caret 131445 MOVED TO 137800
NULL 131450 EPIBLEPHARON OF LOWER LID
NULL 131460 EPIBLEPHARON OF UPPER LID
Percent 131500 EPICANTHUS
Asterisk 131530 EPIDERMAL GROWTH FACTOR; EGF UROGASTRONE; URG
Asterisk 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR V-ERB-B AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG;; ONCOGENE ERBB;; ERBB1;; HER1;; SPECIES ANTIGEN 7; SA7 EGFR/SEPT14 FUSION GENE, INCLUDED
Asterisk 131560 FLOTILLIN 2; FLOT2 EPIDERMAL SURFACE ANTIGEN 1; ESA1;; MEMBRANE COMPONENT, CHROMOSOME 17, SURFACE MARKER 1; M17S1
NULL 131600 EPIDERMOID CYSTS
Number Sign 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM;; DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL
Number Sign 131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT;; EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE; EBDCT;; EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE;; ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA; EBDD EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED; EBDSC, INCLUDED
Number Sign 131760 EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE;; EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE
Number Sign 131800 EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE;; EPIDERMOLYSIS BULLOSA OF HANDS AND FEET;; EBS, ACRAL FORM
Number Sign 131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL;; DEB, PRETIBIAL;; EPIDERMOLYSIS BULLOSA, PRETIBIAL
NULL 131880 EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE
Number Sign 131900 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED EBS, GENERALIZED;; EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE
Number Sign 131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE; EBSOG
Number Sign 131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBSMP SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES AND CHILDHOOD BLISTERING
Number Sign 132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
NULL 132090 EPILEPSY, BENIGN OCCIPITAL; BOE
Percent 132100 PHOTOPAROXYSMAL RESPONSE 1; PPR1 PPR;; PHOTOSENSITIVITY;; PHOTOCONVULSIVE REACTION;; EPILEPSY, PHOTOGENIC
NULL 132300 EPILEPSY, READING
Asterisk 132350 SYNTAXIN 2; STX2 EPIMORPHIN; EPIM;; SYNTAXIN 2A; STX2A;; SYNTAXIN 2B; STX2B;; SYNTAXIN 2C; STX2C
Number Sign 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1 MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-RELATED EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE, INCLUDED;; EPIPHYSEAL DYSPLASIA, RIBBING TYPE, INCLUDED
Number Sign 132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; EDMMD
NULL 132500 EPISTAXIS, HEREDITARY
Number Sign 132600 PILOMATRIXOMA PILOMATRICOMA; PTR;; EPITHELIOMA CALCIFICANS OF MALHERBE
Number Sign 132700 CYLINDROMATOSIS, FAMILIAL ANCELL-SPIEGLER CYLINDROMAS;; 'TURBAN TUMOR' SYNDROME;; CYLINDROMAS, DERMAL ECCRINE
Number Sign 132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE FERGUSON-SMITH-TYPE EPITHELIOMA;; ESS1, FORMERLY
Plus 132810 EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1 EPOXIDE HYDROLASE; EPHX;; EPOXIDE HYDROLASE, MICROSOMAL XENOBIOTIC; EPOX PHENYTOIN TOXICITY, INCLUDED;; ARENE OXIDE DETOXIFICATION DEFECT, INCLUDED;; FETAL HYDANTOIN SYNDROME, INCLUDED; FHS, INCLUDED;; DIPHENYLHYDANTOIN, DEFECT IN HYDROXYLATION OF, INCLUDED
Asterisk 132811 EPOXIDE HYDROLASE 2, CYTOSOLIC; EPHX2
NULL 132850 EPSTEIN-BARR VIRUS INSERTION SITE 1; EBVS1 EPSTEIN-BARR VIRUS INTEGRATION SITE
Caret 132860 REMOVED FROM DATABASE
Asterisk 132880 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 6; NR2F6 V-ERB-A AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG-LIKE 2; ERBAL2;; ERBA-RELATED 2; EAR2
Asterisk 132890 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 1; NR2F1 TRANSCRIPTION FACTOR COUP 1; TFCOUP1;; CHICKEN OVALBUMIN UPSTREAM PROMOTER TRANSCRIPTION FACTOR 1; COUPTFI; COUPTF1;; ERBA-RELATED 3; EAR3;; V-ERB-A AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG-LIKE 3; ERBAL3
Number Sign 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4 FAA4;; AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS
NULL 132990 ERYTHEMA NODOSUM, FAMILIAL
Percent 133000 ERYTHEMA PALMARE HEREDITARIUM
Number Sign 133020 ERYTHERMALGIA, PRIMARY ERYTHROMELALGIA, PRIMARY;; ERYTHROMELALGIA, FAMILIAL NEUROPATHY, SMALL FIBER, INCLUDED; SFNP, INCLUDED
Asterisk 133090 STOMATIN; STOM ERYTHROCYTE SURFACE PROTEIN BAND 7.2; EPB72;; ERYTHROCYTE BAND 7 INTEGRAL MEMBRANE PROTEIN; BND7
Number Sign 133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1 POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;; ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN
Asterisk 133170 ERYTHROPOIETIN; EPO EP
Asterisk 133171 ERYTHROPOIETIN RECEPTOR; EPOR
NULL 133180 ERYTHROLEUKEMIA, FAMILIAL DI GUGLIELMO DISEASE, FAMILIAL;; LEUKEMIA, ACUTE MYELOGENOUS, M6
Number Sign 133190 SPINOCEREBELLAR ATAXIA 34; SCA34 ERYTHROKERATODERMIA WITH ATAXIA
Number Sign 133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; EKVP;; ERYTHROKERATODERMIA VARIABILIS; EKV;; ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC; PSEK;; ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES;; ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS GREITHER DISEASE, INCLUDED;; KERATOSIS PALMOPLANTARIS TRANSGREDIENS ET PROGREDIENS, INCLUDED
Asterisk 133220 ESTERASE A4; ESA4
Asterisk 133230 ESTERASE A-5; ESA5 ACETYLESTERASE, ADULT BRAIN ACETYLESTERASE, FETAL BRAIN, INCLUDED;; ESA7, INCLUDED
Number Sign 133239 ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SUSCEPTIBILITY TO, INCLUDED;; ESCC, SUSCEPTIBILITY TO, INCLUDED;; AERODIGESTIVE TRACT CANCER, SUSCEPTIBILITY TO, INCLUDED;; GASTRIC CARDIA ADENOCARCINOMA, SUSCEPTIBILITY TO, INCLUDED
NULL 133240 ESOPHAGEAL RING, LOWER
Caret 133250 MOVED TO 172460
NULL 133260 ESTERASE B; ESB
NULL 133270 ESTERASE C; ESC
Asterisk 133280 ESTERASE D; ESD S-FORMYLGLUTATHIONE HYDROLASE, INCLUDED; FGH, INCLUDED
Asterisk 133290 ESTERASE B3; ESB3
NULL 133300 ESTERASE ES-2, REGULATOR FOR
Caret 133420 MOVED TO 113710
Plus 133430 ESTROGEN RECEPTOR 1; ESR1 ESTROGEN RECEPTOR; ESR; ER;; ESTROGEN RECEPTOR, ALPHA; ESRA HDL CHOLESTEROL, AUGMENTED RESPONSE OF, TO HORMONE REPLACEMENT, INCLUDED;; ATHEROSCLEROSIS, SUSCEPTIBILITY TO, INCLUDED
Asterisk 133435 RUNT-RELATED TRANSCRIPTION FACTOR 1, TRANSLOCATED TO, 1; RUNX1T1 RUNX1, TRANSLOCATED TO, 1;; ACUTE MYELOGENOUS LEUKEMIA 1 TRANSLOCATION 1, CYCLIN-D RELATED; AML1T1;; ETO GENE; ETO;; MYELOID TRANSLOCATION GENE ON 8q22; MTG8;; ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 2; ZMYND2;; CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 1; CBFA2T1 ETO/AML FUSION GENE, INCLUDED
Asterisk 133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E EUKARYOTIC TRANSLATION INITIATION FACTOR 4E FAMILY, MEMBER 1; EIF4E1;; EIF4E FAMILY, MEMBER 1;; EIF4E-LIKE 1; EIF4EL1;; MESSENGER RNA CAP-BINDING PROTEIN EIF4E
Asterisk 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1 EWS GENE; EWS EWS/FLI1 FUSION GENE, INCLUDED;; EWS/ERG FUSION GENE, INCLUDED;; EWS/WT1 FUSION GENE, INCLUDED;; EWS/ATF1 FUSION GENE, INCLUDED;; EWS/FEV FUSION GENE, INCLUDED;; EWS/ZNF278 FUSION GENE, INCLUDED;; EWS/CREB1 FUSION GENE, INCLUDED;; EWS/NR4A3 FUSION GENE, INCLUDED;; EWS/POU5F1 FUSION GENE, INCLUDED;; EWS/ETV1 FUSION GENE, INCLUDED;; EWS/ETV4 FUSION GENE, INCLUDED;; EWS/UQCRH FUSION GENE, INCLUDED
Percent 133500 EXCHONDROSIS OF PINNA, POSTERIOR EAR BUMP
Asterisk 133510 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3 XPB GENE; XPB
Asterisk 133520 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4 XPF GENE
Asterisk 133530 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5 ERCM2;; UV DAMAGE, EXCISION REPAIR OF, UV-135; UVDR;; RAD2, YEAST, HOMOLOG OF;; XERODERMA PIGMENTOSUM, GROUP G CORRECTING PROTEIN; XPGC;; XPG GENE; XPG
Asterisk 133535 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN MOUSE CELLS; ERCM1
Number Sign 133540 COCKAYNE SYNDROME B; CSB
Asterisk 133550 SOLUTE CARRIER FAMILY 1 (NEURONAL/EPITHELIAL HIGH AFFINITY GLUTAMATE TRANSPORTER), MEMBER 1; SLC1A1 EXCITATORY AMINO ACID CARRIER 1; EAAC1;; EAAT3;; GLUTAMATE TRANSPORTER, HIGH AFFINITY
NULL 133600 EXOSTOSES OF HEEL
NULL 133690 EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E
Number Sign 133700 EXOSTOSES, MULTIPLE, TYPE I EXT; EXT1;; MULTIPLE CARTILAGINOUS EXOSTOSES;; DIAPHYSEAL ACLASIS;; MULTIPLE OSTEOCHONDROMAS;; OSTEOCHONDROMATOSIS
Number Sign 133701 EXOSTOSES, MULTIPLE, TYPE II EXT2
NULL 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS RASMUSSEN SYNDROME
Caret 133710 REMOVED FROM DATABASE
Caret 133730 REMOVED FROM DATABASE
Caret 133740 REMOVED FROM DATABASE
NULL 133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION AND MICROCEPHALY
Number Sign 133780 EXUDATIVE VITREORETINOPATHY 1; EVR1 EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;; FEVR, AUTOSOMAL DOMINANT;; CRISWICK-SCHEPENS SYNDROME RETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED
NULL 133800 EYEBROW, WHORL IN
NULL 133900 HEMIFACIAL HYPERPLASIA HEMIFACIAL HYPERTROPHY;; FACIAL HEMIHYPERTROPHY;; FACIAL ASYMMETRY
NULL 134000 FACIAL HYPERTRICHOSIS
Caret 134100 MOVED TO 601471
Percent 134200 FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL
NULL 134300 FACIAL SPASM
Asterisk 134350 COMPLEMENT FACTOR D; CFD FACTOR D; DF;; ADIPSIN; ADN
Asterisk 134370 COMPLEMENT FACTOR H; CFH H FACTOR 1; HF1;; FACTOR H; HF FACTOR H-LIKE 1, INCLUDED; FHL1, INCLUDED;; COMPLEMENT FACTOR H-LIKE 1, INCLUDED; CFHL1, INCLUDED
Asterisk 134371 COMPLEMENT FACTOR H-RELATED 1; CFHR1 FACTOR H-RELATED GENE 1; FHR1;; H FACTOR-LIKE 1; HFL1
Asterisk 134390 COAGULATION FACTOR III; F3 TISSUE FACTOR; TF;; TISSUE THROMBOPLASTIN
NULL 134400 FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS THROMBOPHILIA WITH ELEVATED FACTOR V;; PROACCELERIN EXCESS
NULL 134430 FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY IV; FMFD IV;; MULTIPLE COAGULATION FACTOR DEFICIENCY IV; MCFD4
Caret 134450 MOVED TO 613878
NULL 134500 FACTOR VIII DEFICIENCY AUTOSOMAL HEMOPHILIA A
NULL 134510 FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF; F8F9D FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY II; FMFD II
NULL 134520 FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY V; FMFD V;; MULTIPLE COAGULATION FACTOR DEFICIENCY V; MCFD5
Caret 134530 MOVED TO 227600
NULL 134540 FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY VI; FMFD VI;; MULTIPLE COAGULATION FACTOR DEFICIENCY VI; MCFD6
Asterisk 134570 FACTOR XIII, A1 SUBUNIT; F13A1 F13A;; FIBRIN STABILIZING FACTOR, A SUBUNIT;; FSF, A SUBUNIT;; FIBRINOLIGASE;; TRANSGLUTAMINASE, PLASMA
Asterisk 134580 FACTOR XIII, B SUBUNIT; F13B FIBRIN STABILIZING FACTOR, B SUBUNIT;; FSF, B SUBUNIT
Percent 134600 FANCONI RENOTUBULAR SYNDROME 1; FRTS1 FANCONI RENOTUBULAR SYNDROME; FRTS;; RENAL FANCONI SYNDROME; RFS;; ADULT FANCONI SYNDROME;; FANCONI SYNDROME WITHOUT CYSTINOSIS;; LUDER-SHELDON SYNDROME
Number Sign 134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT FMF, AUTOSOMAL DOMINANT
Asterisk 134629 FARNESYL DIPHOSPHATE SYNTHASE; FDPS FARNESYLPYROPHOSPHATE SYNTHETASE; FPS
Caret 134631 MOVED TO 134629
Caret 134632 MOVED TO 134629
Caret 134633 MOVED TO 134629
Caret 134634 MOVED TO 134629
Asterisk 134635 FARNESYLTRANSFERASE, CAAX BOX, ALPHA; FNTA PROTEIN GERANYLGERANYLTRANSFERASE TYPE I, ALPHA SUBUNIT; PGGT1A
Asterisk 134636 FARNESYLTRANSFERASE, CAAX BOX, BETA; FNTB
Asterisk 134637 FAS CELL SURFACE DEATH RECEPTOR; FAS TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6;; APOPTOSIS ANTIGEN 1; APT1;; FAS ANTIGEN;; SURFACE ANTIGEN APO1; APO1;; CD95
Asterisk 134638 FAS LIGAND; FASLG FASL;; TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6;; APOPTOSIS ANTIGEN LIGAND 1; APT1LG1;; APOPTOSIS ANTIGEN LIGAND;; CD95 LIGAND; CD95L;; CD178 ANTIGEN; CD178
Asterisk 134640 FATTY ACID-BINDING PROTEIN 2; FABP2 FATTY ACID-BINDING PROTEIN, INTESTINAL
Asterisk 134650 FATTY ACID-BINDING PROTEIN 1; FABP1 FATTY ACID-BINDING PROTEIN, LIVER; FABPL;; Z PROTEIN
Asterisk 134651 FATTY ACID-BINDING PROTEIN 3; FABP3 FATTY ACID-BINDING PROTEIN, MUSCLE AND HEART;; FATTY ACID-BINDING PROTEIN, SKELETAL MUSCLE;; MAMMARY-DERIVED GROWTH INHIBITOR; MDGI
Asterisk 134660 GLUTATHIONE S-TRANSFERASE, PI; GSTP1 GLUTATHIONE S-TRANSFERASE 3; GST3;; GST, CLASS PI;; FATTY ACID ETHYL ESTER SYNTHASE III, MYOCARDIAL; FAEES3 GLUTATHIONE S-TRANSFERASE PI PSEUDOGENE, INCLUDED; GSTPP, INCLUDED
Asterisk 134690 FAU GENE; FAU FBR-MuSV ASSOCIATED UBIQUITOUSLY EXPRESSED GENE
Caret 134700 MOVED TO {300908}
NULL 134720 FECUNDITY GENE, BOOROOLA, OF SHEEP, HOMOLOG OF FECB
NULL 134750 FELTY SYNDROME
Asterisk 134770 FERRITIN HEAVY CHAIN 1; FTH1 FTH;; FHC;; FTHL6
NULL 134780 FEMORAL-FACIAL SYNDROME; FFS FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS
Asterisk 134790 FERRITIN LIGHT CHAIN; FTL
Asterisk 134795 FIBRILLARIN; FBL FLRN
Asterisk 134797 FIBRILLIN 1; FBN1 FIBRILLIN; FBN
Asterisk 134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA FIBRINOGEN--ALPHA POLYPEPTIDE CHAIN
Asterisk 134830 FIBRINOGEN, B BETA POLYPEPTIDE; FGB FIBRINOGEN--BETA POLYPEPTIDE CHAIN
Asterisk 134850 FIBRINOGEN, G GAMMA POLYPEPTIDE; FGG FIBRINOGEN--GAMMA POLYPEPTIDE CHAIN
NULL 134900 FIBRINOLYTIC DEFECT
Asterisk 134920 FIBROBLAST GROWTH FACTOR 2; FGF2 FIBROBLAST GROWTH FACTOR, BASIC; FGFB; BFGF
Asterisk 134921 FIBROBLAST GROWTH FACTOR 6; FGF6 HST2 ONCOGENE
Asterisk 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3 FGFR3/TACC3 FUSION GENE, INCLUDED
Asterisk 134935 FIBROBLAST GROWTH FACTOR RECEPTOR 4; FGFR4 TYROSINE KINASE RELATED TO FIBROBLAST GROWTH FACTOR RECEPTOR; TKF
Caret 135000 MOVED TO 178500
Number Sign 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
Number Sign 135150 BIRT-HOGG-DUBE SYNDROME; BHD HORNSTEIN-KNICKENBERG SYNDROME;; FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS
Number Sign 135290 DESMOID DISEASE, HEREDITARY FIBROMATOSIS, FAMILIAL INFILTRATIVE; FIF DESMOID TUMOR CAUSED BY SOMATIC MUTATION, INCLUDED
Number Sign 135300 FIBROMATOSIS, GINGIVAL, 1; GINGF1 GINGF;; GGF1;; FIBROMATOSIS, GINGIVAL, HEREDITARY; HGF
Number Sign 135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; HTC3 FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS;; CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME;; CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME;; MICRODELETION 17q24.2-q24.3 SYNDROME;; MICRODUPLICATION 17q24.2-q24.3 SYNDROME;; HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA
Number Sign 135500 ZIMMERMANN-LABAND SYNDROME 1; ZLS1 LABAND SYNDROME;; FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE, AND EARS, AND SPLENOMEGALY
Percent 135550 FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS GINGIVAL FIBROMATOSIS WITH SENSORINEURAL HEARING LOSS; GFD;; JONES SYNDROME
NULL 135580 FIBROMUSCULAR DYSPLASIA; FMDA FIBROMUSCULAR DYSPLASIA OF ARTERIES;; FMD
Asterisk 135600 FIBRONECTIN 1; FN1 FN;; LARGE, EXTERNAL, TRANSFORMATION-SENSITIVE PROTEIN; LETS
NULL 135610 FIBRONECTIN-LIKE 2; FNL2
Asterisk 135620 INTEGRIN, ALPHA-5; ITGA5 FIBRONECTIN RECEPTOR, ALPHA SUBUNIT; FNRA;; VERY LATE ACTIVATION PROTEIN 5, ALPHA SUBUNIT; VLA5A
Asterisk 135630 INTEGRIN, BETA-1; ITGB1 GLYCOPROTEIN IIa;; GP IIa;; FIBRONECTIN RECEPTOR, BETA SUBUNIT; FNRB;; VERY LATE ACTIVATION PROTEIN, BETA POLYPEPTIDE;; VLA-BETA; VLAB;; CD29
Caret 135631 MOVED TO 135630
Number Sign 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1 OPHTHALMOPLEGIA, CONGENITAL;; BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS;; FEOM1 LOCUS FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED; CFEOM3B, INCLUDED
Number Sign 135750 LAURIN-SANDROW SYNDROME; LSS SANDROW SYNDROME;; MIRROR HANDS AND FEET WITH NASAL DEFECTS;; TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;; MIRROR-IMAGE POLYDACTYLY; MIP;; FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS LAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED
NULL 135800 FIBULA, RECURRENT DISLOCATION OF HEAD OF
Asterisk 135820 FIBULIN 1; FBLN1
Asterisk 135821 FIBULIN 2; FBLN2
Number Sign 135900 COFFIN-SIRIS SYNDROME 1; CSS1 COFFIN-SIRIS SYNDROME; CSS;; FIFTH DIGIT SYNDROME;; MENTAL RETARDATION, AUTOSOMAL DOMINANT 12; MRD12
Asterisk 135940 FILAGGRIN; FLG PROFILAGGRIN, INCLUDED
NULL 135950 FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE
Number Sign 136000 ADERMATOGLYPHIA; ADERM FINGERPRINTS, ABSENCE OF
NULL 136100 FINGERS, RELATIVE LENGTH OF 2D:4D FINGER-LENGTH RATIO
Number Sign 136120 FISH-EYE DISEASE; FED DYSLIPOPROTEINEMIC CORNEAL DYSTROPHY;; ALPHA-LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY;; ALPHA-LCAT DEFICIENCY;; LCATA DEFICIENCY
Asterisk 136130 FLAVIN-CONTAINING MONOOXYGENASE 1; FMO1 FMO, FETAL LIVER
Asterisk 136131 FLAVIN-CONTAINING MONOOXYGENASE 4; FMO4 FLAVIN-CONTAINING MONOOXYGENASE 2, FORMERLY; FMO2, FORMERLY;; FMO, ADULT LIVER FORM;; TRIMETHYLAMINE OXYGENASE;; TMA OXYGENASE
Asterisk 136132 FLAVIN-CONTAINING MONOOXYGENASE 3; FMO3
Number Sign 136140 FLOATING-HARBOR SYNDROME; FLHS
NULL 136150 FLOOD FACTOR DEFICIENCY
NULL 136200 FLUSHING OF EARS AND SOMNOLENCE
Percent 136300 FLYNN-AIRD SYNDROME
Asterisk 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1 FMS-LIKE TYROSINE KINASE 2; FLT2;; FMS-LIKE GENE; FLG FGFR1/BCR FUSION GENE, INCLUDED;; FGFR1/FGFR1OP2 FUSION GENE, INCLUDED;; FGFR1/ZNF198 FUSION GENE, INCLUDED;; FGFR1/TACC1 FUSION GENE, INCLUDED
Asterisk 136351 FMS-RELATED TYROSINE KINASE 3; FLT3 STEM CELL TYROSINE KINASE 1; STK1;; FLK2
Asterisk 136352 FMS-LIKE TYROSINE KINASE 4; FLT4 VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR 3; VEGFR3
NULL 136400 FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA
Asterisk 136425 FOLATE RECEPTOR 2, FETAL; FOLR2 FOLATE-BINDING PROTEIN, PLACENTAL;; FOLATE RECEPTOR, BETA
Asterisk 136430 FOLATE RECEPTOR 1, ADULT; FOLR1 FOLATE-BINDING PROTEIN, ADULT; FBP;; FOLATE RECEPTOR; FOLR;; FOLATE RECEPTOR, ALPHA;; OVARIAN CANCER-ASSOCIATED ANTIGEN; MOv18
Asterisk 136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR FSH RECEPTOR
Asterisk 136440 3-KETODIHYDROSPHINGOSINE REDUCTASE; KDSR FOLLICULAR LYMPHOMA VARIANT TRANSLOCATION 1; FVT1;; FOLLICULAR-VARIANT-TRANSLOCATION GENE
Asterisk 136470 FOLLISTATIN; FST
NULL 136480 FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL TROCHLEAR NERVE PALSY, FAMILIAL CONGENITAL;; SUPERIOR OBLIQUE OCULOMOTOR PALSY, FAMILIAL CONGENITAL;; STRABISMUS FROM SUPERIOR OBLIQUE PALSY
Caret 136490 MOVED TO 103710
Percent 136500 FOCAL FACIAL DERMAL DYSPLASIA 1, BRAUER TYPE; FFDD1 BRAUER SYNDROME;; HEREDITARY SYMMETRICAL APLASTIC NEVI OF TEMPLES;; BITEMPORAL APLASIA CUTIS CONGENITA
Asterisk 136510 FOLYLPOLYGLUTAMATE SYNTHETASE; FPGS
Asterisk 136515 FOS-LIKE ANTIGEN 1; FOSL1 FOS-RELATED ANTIGEN 1; FRA1
Number Sign 136520 FOVEAL HYPOPLASIA 1; FVH1 FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT
Asterisk 136530 FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB FOLLITROPIN, BETA CHAIN
Asterisk 136533 FORKHEAD BOX O1A; FOXO1A FOXO1;; FORKHEAD IN RHABDOMYOSARCOMA; FKHR;; FORKHEAD, DROSOPHILA, HOMOLOG OF, IN RHABDOMYOSARCOMA FKHR/PAX7 FUSION GENE, INCLUDED;; FKHR/PAX3 FUSION GENE, INCLUDED
Asterisk 136535 FORMIN 1; FMN1 FORMIN; FMN;; LIMB DEFORMITY, MOUSE, HOMOLOG OF; LD
Asterisk 136537 FORMYL PEPTIDE RECEPTOR 1; FPR1 FMLP RECEPTOR;; N-FORMYLPEPTIDE RECEPTOR
Asterisk 136538 FORMYL PEPTIDE RECEPTOR 2; FPR2 FORMYL PEPTIDE RECEPTOR-LIKE 1; FPRL1;; FORMYL PEPTIDE RECEPTOR HOMOLOG 1; FPRH1;; HM63;; LIPOXIN A4 RECEPTOR; ALXR; LXA4R
Asterisk 136539 FORMYL PEPTIDE RECEPTOR 3; FPR3 FORMYL PEPTIDE RECEPTOR-LIKE 2; FPRL2;; FORMYL PEPTIDE RECEPTOR HOMOLOG 2; FPRH2
Number Sign 136540 FRAGILE SITE 10q23
Number Sign 136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1 NORTH CAROLINA MACULAR DYSTROPHY; NCMD;; CENTRAL AREOLAR PIGMENT EPITHELIAL DYSTROPHY; CAPED;; RETINAL PIGMENT EPITHELIAL DYSTROPHY, CENTRAL;; FOVEAL DYSTROPHY, PROGRESSIVE, FORMERLY
Caret 136560 MOVED TO 616109
Number Sign 136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(p12.1), INCLUDED; FRA16E, INCLUDED;; FRAGILE SITE 16p12, INCLUDED
Number Sign 136580 FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1); FRA16B FRAGILE SITE 16q22
Number Sign 136590 FRAGILE SITE 20p11
NULL 136600 FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURAL DEAFNESS
Caret 136610 MOVED TO 601464
Number Sign 136620 FRAGILE SITE 10q25; FRA10B BrdU-DEPENDENT FRAGILE SITE
Number Sign 136630 MENTAL RETARDATION, FRA12A TYPE
Number Sign 136640 FRAGILE SITE 9q32
Caret 136650 MOVED TO 601153
Number Sign 136660 FRAGILE SITE 17p12
Caret 136670 REMOVED FROM DATABASE
Number Sign 136680 FRASIER SYNDROME
Caret 136750 MOVED TO 164770
Number Sign 136760 FRONTONASAL DYSPLASIA 1; FND1 FRONTORHINY;; FRONTONASAL DYSPLASIA; FND;; FRONTONASAL MALFORMATION; FNM;; MEDIAN FACIAL CLEFT SYNDROME
Caret 136770 MOVED TO 164770
Number Sign 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, EARLY-ONSET
Asterisk 136820 FUCOSIDASE, ALPHA-L, 2; FUCA2 ALPHA-L-FUCOSIDASE 2;; FUCOSIDASE, ALPHA-L, PLASMA
NULL 136830 FUCOSIDASE REGULATOR ALPHA-L-FUCOSIDASE REGULATOR; FUCT
Asterisk 136835 FUCOSYLTRANSFERASE 5; FUT5 ALPHA-3-FUCOSYLTRANSFERASE, PLASMA TYPE
Asterisk 136836 FUCOSYLTRANSFERASE 6; FUT6
Asterisk 136840 FULL-LENGTH RETROVIRAL SEQUENCE 1; FRV1
Asterisk 136850 FUMARATE HYDRATASE; FH FUMARASE FUMARATE HYDRATASE, CYTOSOLIC, INCLUDED; FH1, INCLUDED;; FUMARATE HYDRATASE, MITOCHONDRIAL, INCLUDED; FH2, INCLUDED
Asterisk 136870 FULL-LENGTH RETROVIRAL SEQUENCE 2; FRV2
Number Sign 136880 FUNDUS ALBIPUNCTATUS RETINITIS PUNCTATA ALBESCENS, INCLUDED
Asterisk 136890 FULL-LENGTH RETROVIRAL SEQUENCE 3; FRV3
Number Sign 136900 SORSBY FUNDUS DYSTROPHY; SFD FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY;; MACULAR DYSTROPHY, HEMORRHAGIC
Asterisk 136950 FURIN, PAIRED BASIC AMINO ACID CLEAVING ENZYME; FURIN PAIRED BASIC AMINO ACID CLEAVING ENZYME; PACE;; PROPROTEIN CONVERTASE SUBTILISIN/KEXIN TYPE 3; PCSK3;; SPC1
NULL 137000 FUTCHER LINE
Asterisk 137010 F9 EMBRYONIC ANTIGEN; FEA
Asterisk 137020 TISSUE-SPECIFIC TRANSPLANTATION ANTIGEN 3; TSTA3 GDP-KETO-6-DEOXYMANNOSE 3,5-EPIMERASE, 4-REDUCTASE;; RED CELL NADP(H)-BINDING PROTEIN;; FX
Asterisk 137025 FYN ONCOGENE RELATED TO SRC, FGR, YES; FYN FYN TYROSINE KINASE PROTOONCOGENE;; SRC-LIKE KINASE; SLK;; SYN
Asterisk 137026 G PROTEIN-COUPLED RECEPTOR KINASE 4; GRK4 GPRK4;; G PROTEIN-COUPLED RECEPTOR KINASE 2 (DROSOPHILA)-LIKE; GPRK2L
Asterisk 137028 GALACTOKINASE 2; GALK2 GK2
Asterisk 137030 GALACTOSE MUTAROTASE; GALM ALDOSE 1-EPIMERASE;; GALACTOSE ENZYME ACTIVATOR; GLAT;; GAL PLUS ACTIVATOR
Caret 137033 MOVED TO 153619
Asterisk 137035 GALANIN; GAL GALN; GLNN
NULL 137040 GALLBLADDER, AGENESIS OF
NULL 137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF IMMUNOGLOBULIN A, DEFECT IN ASSEMBLY OF;; IgA, DEFECT IN ASSEMBLY OF
Asterisk 137060 BETA-1,4-GALACTOSYLTRANSFERASE 1; B4GALT1 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 1;; GTB;; GALACTOSYLTRANSFERASE 1; GT1;; GLYCOPROTEIN 4-BETA-GALACTOSYLTRANSFERASE 2; GGTB2 LACTOSE SYNTHETASE, INCLUDED
Caret 137061 MOVED TO 137060
Asterisk 137070 FUSED IN SARCOMA; FUS FUSION, DERIVED FROM 12-16 TRANSLOCATION, MALIGNANT LIPOSARCOMA;; TRANSLOCATED IN LIPOSARCOMA; TLS FUS/ATF1 FUSION GENE, INCLUDED;; FUS/CHOP FUSION GENE, INCLUDED;; FUS/ERG FUSION GENE, INCLUDED;; FUS/CREB3L2 FUSION GENE, INCLUDED
Percent 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 IMMUNOGLOBULIN A, SELECTIVE DEFICIENCY OF;; IgA, SELECTIVE DEFICIENCY OF;; GAMMA-A-GLOBULIN, SELECTIVE DEFICIENCY OF
NULL 137130 GASTRIC SNEEZING STOMACH SNEEZE REFLEX
Asterisk 137140 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2; GABRA2 GABA-A RECEPTOR, ALPHA-2 POLYPEPTIDE
Asterisk 137141 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-4; GABRA4 GABA-A RECEPTOR, ALPHA-4 POLYPEPTIDE
Asterisk 137142 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-5; GABRA5 GABA-A RECEPTOR, ALPHA-5 POLYPEPTIDE
Asterisk 137143 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-6; GABRA6 GABA-A RECEPTOR, ALPHA-6 POLYPEPTIDE
Asterisk 137150 4-AMINOBUTYRATE AMINOTRANSFERASE; ABAT GAMMA-AMINOBUTYRATE TRANSAMINASE; GABAT;; GABA-TRANSFERASE;; GABA-TRANSAMINASE
Asterisk 137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1 GABA-A RECEPTOR, ALPHA-1 POLYPEPTIDE
Asterisk 137161 GAMMA-AMINOBUTYRIC ACID RECEPTOR, RHO-1; GABRR1 GABA-C RECEPTOR, RHO-1 SUBUNIT
Asterisk 137162 GAMMA-AMINOBUTYRIC ACID RECEPTOR, RHO-2; GABRR2 GABA-C RECEPTOR, RHO-2 SUBUNIT
Asterisk 137163 GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA; GABRD GABA-A RECEPTOR, DELTA POLYPEPTIDE
Asterisk 137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2 GABA-A RECEPTOR, GAMMA-2 POLYPEPTIDE
Asterisk 137165 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER 1; SLC6A1 GAMMA-AMINOBUTYRIC ACID TRANSPORTER;; GABA TRANSPORTER; GABATR;; GABATHG
Asterisk 137166 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-1; GABRG1 GABA-A RECEPTOR, GAMMA-1 POLYPEPTIDE
Asterisk 137167 GAMMA-GLUTAMYL CARBOXYLASE; GGCX
Asterisk 137168 GAMMA-GLUTAMYLTRANSFERASE 5; GGT5 GAMMA-GLUTAMYLTRANSFERASE-LIKE ACTIVITY 1; GGTLA1;; GAMMA-GLUTAMYL TRANSPEPTIDASE-RELATED ENZYME; GGTREL;; GAMMA-GLUTAMYL CLEAVING ENZYME;; GAMMA-GLUTAMYL LEUKOTRIENASE; GGL
Asterisk 137170 GAMMA-GLUTAMYL CYCLOTRANSFERASE; GGCT GLUTAMYLCYCLOTRANSFERASE, GAMMA; GCTG;; CHROMOSOME 7 OPEN READING FRAME 24; C7ORF24;; CYTOCHROME c-RELEASING FACTOR, 21-KD; CRF21
Asterisk 137181 GAMMA-GLUTAMYLTRANSFERASE 2; GGT2
Asterisk 137190 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-1; GABRB1 GABA-A RECEPTOR, BETA-1 POLYPEPTIDE
Asterisk 137192 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3 GABA-A RECEPTOR, BETA-3 POLYPEPTIDE
Number Sign 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN GAMSTORP-WOHLFART SYNDROME;; MYOKYMIA, MYOTONIA, AND MUSCLE WASTING
Asterisk 137207 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 32; LRRC32 GLYCOPROTEIN A REPETITIONS PREDOMINANT; GARP;; D11S833E
NULL 137210 GASTRIC VOLVULUS, INTRATHORACIC
Number Sign 137215 GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC;; GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR, INCLUDED; LBC, INCLUDED;; GASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFT PALATE, INCLUDED
Asterisk 137216 ATPase, H+,K+ EXCHANGING, ALPHA SUBUNIT; ATP4A GASTRIC HYDROGEN-POTASSIUM ATPase, ALPHA;; ATP6A, FORMERLY
Asterisk 137217 ATPase, H+,K+ EXCHANGING, BETA POLYPEPTIDE; ATP4B GASTRIC HYDROGEN-POTASSIUM ATPase, BETA
NULL 137220 GASTRIC JUICE PEPTIDES
Asterisk 137240 GASTRIC INHIBITORY POLYPEPTIDE; GIP GLUCOSE-DEPENDENT INSULINOTROPIC POLYPEPTIDE
Plus 137241 GASTRIC INHIBITORY POLYPEPTIDE RECEPTOR; GIPR INSULINOTROPIC POLYPEPTIDE RECEPTOR, GLUCOSE-DEPENDENT PLASMA GLUCOSE, 2-HOUR, QUANTITATIVE TRAIT LOCUS 2, INCLUDED; PGQTL2, INCLUDED
Number Sign 137245 LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE MALT LYMPHOMA;; GASTRIC LYMPHOMA, PRIMARY
Asterisk 137250 GASTRIN; GAS
Asterisk 137260 GASTRIN-RELEASING PEPTIDE; GRP GASTRIN-RELEASING POLYPEPTIDE;; BOMBESIN; BN
NULL 137270 GASTROCUTANEOUS SYNDROME PEPTIC ULCER/HIATAL HERNIA, MULTIPLE LENTIGINES/CAFE-AU-LAIT SPOTS, HYPERTELORISM, MYOPIA
NULL 137280 GASTRITIS, FAMILIAL GIANT HYPERTROPHIC MENETRIER DISEASE
Asterisk 137290 TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 2; TACSTD2 MEMBRANE COMPONENT, CHROMOSOME 1, SURFACE MARKER 1; M1S1;; GASTROINTESTINAL TUMOR-ASSOCIATED ANTIGEN 1, 40-KD GLYCOPROTEIN; GA733-1;; GA733
Asterisk 137295 GATA-BINDING PROTEIN 2; GATA2
Asterisk 137350 GELSOLIN; GSN
Caret 137357 MOVED TO 194072
Percent 137360 GENOCHONDROMATOSIS
NULL 137370 GENU VALGUM, ST. HELENA FAMILIAL GENU VALGUM, HEREDITARY PUBERTAL
NULL 137400 GEOGRAPHIC AND FISSURED TONGUE GLOSSITIS, BENIGN MIGRATORY, INCLUDED;; SCROTAL TONGUE, INCLUDED;; LINGUA PLICATA, INCLUDED
Number Sign 137440 GERSTMANN-STRAUSSLER DISEASE; GSD ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;; CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;; AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;; PRION DEMENTIA CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED
Percent 137500 GIANT NEUTROPHIL LEUKOCYTES
Number Sign 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS GIANT PIGMENTED HAIRY NEVUS; GPHN;; GIANT CONGENITAL PIGMENTED NEVUS;; PIGMENTED MOLES NEVUS SPILUS, INCLUDED;; SPITZ NEVUS, INCLUDED
NULL 137560 GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA
Asterisk 137570 SOLUTE CARRIER FAMILY 20 (PHOSPHATE TRANSPORTER), MEMBER 1; SLC20A1 GIBBON APE LEUKEMIA VIRUS RECEPTOR 1; GLVR1;; PHOSPHATE TRANSPORTER 1; PIT1
Percent 137575 GIGANTIFORM CEMENTOMA, FAMILIAL CEMENTOMAS, FAMILIAL MULTIPLE;; CEMENTAL DYSPLASIA, PERIAPICAL
Number Sign 137580 GILLES DE LA TOURETTE SYNDROME; GTS TOURETTE SYNDROME; TS;; TOURETTE DISORDER CHRONIC MOTOR TICS, INCLUDED
Number Sign 137600 ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 IRIDOGONIODYSGENESIS, TYPE 2; IRID2;; IRIDOGONIODYSGENESIS SYNDROME; IGDS;; IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA, AUTOSOMAL DOMINANT; IHGA
NULL 137700 GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE
Number Sign 137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1 GLAUCOMA 1, OPEN ANGLE, L, INCLUDED; GLC1L, INCLUDED
Number Sign 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG GLAUCOMA 1, OPEN ANGLE, E, INCLUDED; GLC1E, INCLUDED;; GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED
NULL 137763 GLAUCOMA AND SLEEP APNEA
Caret 137765 MOVED TO 608328
Asterisk 137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP
Number Sign 137800 GLIOMA SUSCEPTIBILITY 1; GLM1 GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;; GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;; ASTROCYTOMA, INCLUDED;; OLIGODENDROGLIOMA, INCLUDED;; EPENDYMOMA, INCLUDED;; SUBEPENDYMOMA, INCLUDED
NULL 137900 GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN
Number Sign 137920 RENAL CYSTS AND DIABETES SYNDROME; RCAD MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5; MODY5;; HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, ATYPICAL;; FJHN, ATYPICAL;; GLOMERULOCYSTIC KIDNEY DISEASE, HYPOPLASTIC TYPE;; GLOMERULOCYSTIC KIDNEY, FAMILIAL HYPOPLASTIC;; CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES;; CAKUT WITH DIABETES
Number Sign 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES;; TELANGIECTATIC MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS
Percent 137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1 GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;; LOBULAR GLOMERULOPATHY, FAMILIAL
Asterisk 137960 MPV17, MOUSE, HOMOLOG OF; MPV17
Number Sign 138000 GLOMUVENOUS MALFORMATIONS; GVM VENOUS MALFORMATIONS WITH GLOMUS CELLS; VMGLOM;; GLOMUS TUMORS, MULTIPLE;; GLOMANGIOMAS, MULTIPLE
Asterisk 138030 GLUCAGON; GCG GLUCAGON-LIKE PEPTIDE 1, INCLUDED; GLP1, INCLUDED;; GLUCAGON-LIKE PEPTIDE 2, INCLUDED; GLP2, INCLUDED
Asterisk 138032 GLUCAGON-LIKE PEPTIDE 1 RECEPTOR; GLP1R GLP1 RECEPTOR
Asterisk 138033 GLUCAGON RECEPTOR; GCGR
Caret 138035 MOVED TO 230800
Asterisk 138040 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 1; NR3C1 GLUCOCORTICOID RECEPTOR; GCCR; GR;; GCR; GRL
NULL 138060 GLUCOCORTICOID RECEPTOR-LIKE 1; GRLL1 GCRL;; GLUCOCORTICOID RECEPTOR 2; GCR2
NULL 138070 GLUCOGLYCINURIA
Asterisk 138079 GLUCOKINASE; GCK GK; GLK;; HEXOKINASE 4; HK4;; LIVER GLUCOKINASE; LGLK
Asterisk 138090 HEXOSE-6-PHOSPHATE DEHYDROGENASE; H6PD GLUCOSE DEHYDROGENASE; GDH;; GDH/6PGL ENDOPLASMIC BIFUNCTIONAL PROTEIN;; HEXOSE-6-PHOSPHATE DEHYDROGENASE PRECURSOR;; GLUCOSE-6-PHOSPHATE DEHYDROGENASE, SALIVARY;; G6PD, H FORM; G6PDH;; GLUCOSE 1-DEHYDROGENASE
Caret 138100 MOVED TO 138090
NULL 138110 GLUCOSE-6-PHOSPHATE DEHYDROGENASE-LIKE; G6PDL
Asterisk 138120 HEAT-SHOCK 70-KD PROTEIN 5; HSPA5 GLUCOSE-REGULATED PROTEIN, 78-KD; GRP78;; IMMUNOGLOBULIN HEAVY CHAIN-BINDING PROTEIN; BIP
Asterisk 138130 GLUTAMATE DEHYDROGENASE 1; GLUD1 GLUD;; GDH
Asterisk 138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1 GLUCOSE TRANSPORTER 1; GLUT; GLUT1;; ERYTHROCYTE/HEPATOMA GLUCOSE TRANSPORTER;; HUMAN T-CELL LEUKEMIA VIRUS RECEPTOR; HTLVR;; HTLV-1 AND HTLV-2 RECEPTOR
Asterisk 138150 GLUTAMATE OXALOACETATE TRANSAMINASE, MITOCHONDRIAL; GOT2 ASPARTATE AMINOTRANSFERASE, MITOCHONDRIAL
Asterisk 138160 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 2; SLC2A2 GLUCOSE TRANSPORTER 2; GLUT2;; GLUCOSE TRANSPORTER, LIVER/ISLET
Asterisk 138170 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 3; SLC2A3 GLUCOSE TRANSPORTER 3; GLUT3;; GLUCOSE TRANSPORTER, FETAL SKELETAL MUSCLE SOLUTE CARRIER FAMILY 2, MEMBER 3 PSEUDOGENE, INCLUDED; SLC2A3P, INCLUDED;; GLUCOSE TRANSPORTER 3 PSEUDOGENE 1, INCLUDED; GLUT3P1, INCLUDED
Asterisk 138180 GLUTAMATE OXALOACETATE TRANSAMINASE, SOLUBLE; GOT1 ASPARTATE AMINOTRANSFERASE, CYTOSOLIC; AST
Asterisk 138190 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 4; SLC2A4 GLUCOSE TRANSPORTER 4; GLUT4;; GLUCOSE TRANSPORTER, INSULIN-RESPONSIVE
Asterisk 138200 GLUTAMATE PYRUVATE TRANSAMINASE; GPT GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE RED CELL; GPT1;; GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE LIVER;; ALANINE AMINOTRANSFERASE 1; AAT1; ALT1;; ALANINE AMINOTRANSFERASE, SOLUBLE
Asterisk 138210 GLUTAMATE PYRUVATE TRANSAMINASE 2; GPT2 GLUTAMATE PYRUVATE TRANSAMINASE, MITOCHONDRIAL;; ALANINE AMINOTRANSFERASE 2; ALT2
Caret 138220 MOVED TO 138200
Asterisk 138230 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE/FRUCTOSE TRANSPORTER), MEMBER 5; SLC2A5 GLUCOSE TRANSPORTER 5; GLUT5;; GLUCOSE TRANSPORTER, KIDNEY
Caret 138240 MOVED TO 138170
Asterisk 138243 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 3; GRIK3 GLUTAMATE RECEPTOR 7; GLUR7; GLR7
Asterisk 138244 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 2; GRIK2 GLUTAMATE RECEPTOR 6; GLR6; GLUR6
Asterisk 138245 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 1; GRIK1 GLUTAMATE RECEPTOR 5; GLR5; GLUR5
Asterisk 138246 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 4; GRIA4 GLUTAMATE RECEPTOR 4; GLUR4;; GLURD
Asterisk 138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2 GLUTAMATE RECEPTOR 2; GLUR2;; GLURB
Asterisk 138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1 GLUTAMATE RECEPTOR 1; GLUR1;; GLURA
Asterisk 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1 N-METHYL-D-ASPARTATE RECEPTOR CHANNEL, SUBUNIT ZETA-1; NMDAR1;; NR1
Asterisk 138250 ALDEHYDE DEHYDROGENASE 18 FAMILY, MEMBER A1; ALDH18A1 1-PYRROLINE-5-CARBOXYLATE SYNTHETASE; PYCS;; P5CS;; GLUTAMATE GAMMA-SEMIALDEHYDE SYNTHETASE; GSAS
Asterisk 138251 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, ASSOCIATED PROTEIN; GRINA N-METHYL-D-ASPARTATE RECEPTOR-ASSOCIATED PROTEIN 1; NMDARA1;; N-METHYL-D-ASPARTATE RECEPTOR, GLUTAMATE-BINDING SUBUNIT;; GLUTAMATE RECEPTOR, NMDA SUBTYPE, GLUTAMATE-BINDING SUBUNIT
Asterisk 138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B; GRIN2B N-METHYL-D-ASPARTATE RECEPTOR CHANNEL, SUBUNIT EPSILON-2; NMDAR2B;; NR2B
Asterisk 138253 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A; GRIN2A N-METHYL-D-ASPARTATE RECEPTOR CHANNEL, SUBUNIT EPSILON-1; NMDAR2A;; NR2A
Asterisk 138254 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2C; GRIN2C N-METHYL-D-ASPARTATE RECEPTOR CHANNEL, SUBUNIT EPSILON-3; NMDAR2C;; NR2C
Caret 138270 MOVED TO 138385
Asterisk 138275 GLUTAMATE DECARBOXYLASE 2; GAD2 GLUTAMIC ACID DECARBOXYLASE 2;; GLUTAMATE DECARBOXYLASE, PANCREATIC ISLET AND BRAIN, 65-KD; GAD65
Caret 138276 MOVED TO 605363
NULL 138277 GLUTAMIC ACID DECARBOXYLASE, BRAIN, MEMBRANE FORM
Asterisk 138280 GLUTAMINASE, PHOSPHATE-ACTIVATED; GLS GLUTAMINASE, PLATELET;; KIAA0838
Asterisk 138290 GLUTAMATE-AMMONIA LIGASE; GLUL GLUTAMINE SYNTHETASE; GLNS GLUTAMATE-AMMONIA LIGASE-LIKE 1, INCLUDED; GLULL1, INCLUDED;; GLUTAMATE-AMMONIA LIGASE-LIKE 2, INCLUDED; GLULL2, INCLUDED;; GLUTAMATE-AMMONIA LIGASE-LIKE 3, INCLUDED; GLULL3, INCLUDED
Asterisk 138292 GLUTAMINE:FRUCTOSE-6-PHOSPHATE AMIDOTRANSFERASE 1; GFPT1 GFAT1;; GFAT GFPT1L, INCLUDED
Asterisk 138295 GLUTAMYL-PROLYL-tRNA SYNTHETASE; EPRS GLU-PRO-tRNA SYNTHETASE; GLUPRORS;; PROLYL-tRNA SYNTHETASE; PARS
Asterisk 138297 GLUTAMYL AMINOPEPTIDASE; ENPEP AMINOPEPTIDASE A; APA;; GP160
Plus 138300 GLUTATHIONE REDUCTASE; GSR GLUTATHIONE REDUCTASE, HEMOLYTIC ANEMIA DUE TO DEFICIENCY OF, IN RED CELLS, INCLUDED
Asterisk 138319 GLUTATHIONE PEROXIDASE 2; GPX2 GLUTATHIONE PEROXIDASE, GASTROINTESTINAL
Asterisk 138320 GLUTATHIONE PEROXIDASE 1; GPX1
Asterisk 138321 GLUTATHIONE PEROXIDASE 3; GPX3 GLUTATHIONE PEROXIDASE, PLASMA
Asterisk 138322 GLUTATHIONE PEROXIDASE 4; GPX4 PHOSPHOLIPID HYDROPEROXIDE GLUTATHIONE PEROXIDASE; PHGPX
Asterisk 138330 GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 1; MGST1 GLUTATHIONE S-TRANSFERASE 12; GST12
Asterisk 138333 GLUTATHIONE S-TRANSFERASE, MU-4; GSTM4 GLUTATHIONE S-TRANSFERASE M4
Caret 138335 MOVED TO 138370
NULL 138340 GLUTATHIONE TRANSFERASE ACTIVITY TOWARD TRANS-STILBENE OXIDE TRANS-STILBENE OXIDE GLUTATHIONE TRANSFERASE ACTIVITY
Asterisk 138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1 GLUTATHIONE S-TRANSFERASE M1;; GLUTATHIONE TRANSFERASE, CLASS MU, 1;; GST1;; LIVER AND FIBROBLAST GST1
Asterisk 138359 GLUTATHIONE S-TRANSFERASE, ALPHA-1; GSTA1 GLUTATHIONE S-TRANSFERASE A1;; GST, CLASS ALPHA, 1
Asterisk 138360 GLUTATHIONE S-TRANSFERASE, ALPHA-2; GSTA2 GLUTATHIONE S-TRANSFERASE A2;; GLUTATHIONE S-TRANSFERASE 2; GST2;; LIVER GST2;; GST, CLASS ALPHA, 2
Caret 138370 MOVED TO 134660
Asterisk 138380 GLUTATHIONE S-TRANSFERASE, MU-2; GSTM2 GLUTATHIONE S-TRANSFERASE 4; GST4;; GLUTATHIONE S-TRANSFERASE M2;; GST, MUSCLE; GSTM
Asterisk 138385 GLUTATHIONE S-TRANSFERASE, MU-5; GSTM5 GLUTATHIONE S-TRANSFERASE M5;; GLUTATHIONE S-TRANSFERASE, CLASS MU, 5
Asterisk 138390 GLUTATHIONE S-TRANSFERASE, MU-3; GSTM3 GLUTATHIONE S-TRANSFERASE M3;; BRAIN GST; GSTB;; GLUTATHIONE S-TRANSFERASE 5; GST5
Caret 138391 REMOVED FROM DATABASE
Asterisk 138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPDH GAPD; G3PD;; OCT1 COACTIVATOR IN S PHASE, 38-KD COMPONENT;; OCAS, p38 COMPONENT
Asterisk 138420 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1; GPD1 GLYCEROPHOSPHATE DEHYDROGENASE;; GLYCEROL-3-PHOSPHATE DEHYDROGENASE, CYTOSOLIC
Asterisk 138430 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 2; GPD2 GLYCEROPHOSPHATE DEHYDROGENASE-2 Ca(2+)-RESPONSIVE MITOCHONDRIAL FAD-LINKED;; GPD, MITOCHONDRIAL; GPDM;; GDH2
Asterisk 138440 PHOSPHORIBOSYLGLYCINAMIDE FORMYLTRANSFERASE/PHOSPHORIBOSYLGLYCINAMIDE SYNTHETASE/PHOSPHORIBOSYLAMINOIMIDAZOLE SYNTHETASE; GART GLYCINAMIDE PHOSPHORIBOSYLTRANSFERASE, INCLUDED;; GLYCINAMIDE RIBONUCLEOTIDE SYNTHETASE, INCLUDED; GARS, INCLUDED;; GLYCINAMIDE PHOSPHORIBOSYL SYNTHETASE, INCLUDED;; GLYCINAMIDE RIBONUCLEOTIDE TRANSFORMYLASE, INCLUDED; GARTF, INCLUDED;; PHOSPHORIBOSYLGLYCINAMIDE SYNTHETASE, INCLUDED; PRGS, INCLUDED;; PHOSPHORIBOSYLAMINOIMIDAZOLE SYNTHETASE, INCLUDED; PAIS, INCLUDED;; AIRS, INCLUDED;; PHOSPHORIBOSYLGLYCINAMIDE FORMYLTRANSFERASE, INCLUDED; PGFT, INCLUDED
Asterisk 138450 SERINE HYDROXYMETHYLTRANSFERASE, MITOCHONDRIAL; SHMT2 GLYCINE AUXOTROPH A, HUMAN COMPLEMENT FOR HAMSTER; GLY A+
Asterisk 138470 COMPLEMENT FACTOR B; CFB FACTOR B; FB;; PROPERDIN FACTOR B; BF;; FACTOR B, PROPERDIN;; C3 PROACTIVATOR;; C3 PROACCELERATOR;; GLYCINE-RICH BETA-GLYCOPROTEIN; GBG
Asterisk 138480 GLYCINE B COMPLEMENTING; GLYB GLYCINE AUXOTROPH B, HUMAN COMPLEMENT OF HAMSTER;; GLY B+
Asterisk 138491 GLYCINE RECEPTOR, ALPHA-1 SUBUNIT; GLRA1
Asterisk 138492 GLYCINE RECEPTOR, BETA SUBUNIT; GLRB
Number Sign 138500 HYPERGLYCINURIA GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS;; GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS;; IMINOGLYCINURIA TYPE II
Asterisk 138550 GLYCOGEN PHOSPHORYLASE, BRAIN TYPE; PYGB
Asterisk 138570 GLYCOGEN SYNTHASE 1; GYS1 GLYCOGEN SYNTHASE, MUSCLE;; GYS
Asterisk 138571 GLYCOGEN SYNTHASE 2; GYS2 GLYCOGEN SYNTHASE, LIVER;; LIVER GLYCOGEN SYNTHASE
Asterisk 138590 GLYCOPHORIN E; GYPE GPE
Asterisk 138600 OROSOMUCOID 1; ORM1 ORM;; GLYCOPROTEIN, ALPHA-1-ACID, OF SERUM;; ALPHA-1-ACID GLYCOPROTEIN;; ALPHA-1-AGP; AGP1
Asterisk 138610 OROSOMUCOID 2; ORM2 GLYCOPROTEIN, ALPHA-1-ACID, OF SERUM, TYPE 2;; ALPHA-1-ACID GLYCOPROTEIN, TYPE 2; AGP2
Asterisk 138670 ALPHA-1-B-GLYCOPROTEIN; A1BG GAB;; A1B;; ABG
Asterisk 138680 ALPHA-2-HS-GLYCOPROTEIN; AHSG A2HS; AHS; HSGA;; FETUIN, MOUSE, HOMOLOG OF;; FETUIN A; FETUA
Asterisk 138700 APOLIPOPROTEIN H; APOH GLYCOPROTEIN I, BETA-2; B2GP1;; GLYCOPROTEIN 1, BETA-2;; BG
NULL 138710 GLYCOPROTEIN, RENAL
Asterisk 138720 GLYCOPROTEIN Ib, PLATELET, BETA POLYPEPTIDE; GP1BB PLATELET GLYCOPROTEIN Ib, BETA POLYPEPTIDE;; GP Ib, BETA SUBUNIT
Asterisk 138750 GLYOXALASE I; GLO1
Asterisk 138760 HYDROXYACYL GLUTATHIONE HYDROLASE; HAGH GLYOXALASE II; GLO2
NULL 138770 GMS SYNDROME GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME
NULL 138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES MULTINODULAR GOITER/CYSTIC RENAL DISEASE/DIGITAL ANOMALIES;; MNG/CRD/DA
Number Sign 138800 GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; MNG1 GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION;; MULTINODULAR GOITER, ADOLESCENT;; EUTHYROID GOITER;; SIMPLE GOITER
Asterisk 138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR GNRHR1;; GRHR;; LUTEINIZING HORMONE-RELEASING HORMONE RECEPTOR; LHRHR
Asterisk 138890 GOOSECOID HOMEOBOX; GSC
Number Sign 138900 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 GOUT SUSCEPTIBILITY 1; GOUT1
NULL 138920 GRANDDAD SYNDROME GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUS FAT, AUTOSOMAL DOMINANT INHERITANCE
NULL 138930 GRANT SYNDROME
Asterisk 138945 GRANULIN PRECURSOR; GRN PROGRANULIN; PGRN;; EPITHELIN PRECURSOR;; PROEPITHELIN; PEPI;; GRANULIN-EPITHELIN PRECURSOR; GEP;; PC CELL-DERIVED GROWTH FACTOR; PCDGF;; ACROGRANIN;; GLYCOPROTEIN, 88-KD; GP88 GRANULINS, INCLUDED;; EPITHELINS, INCLUDED
Asterisk 138960 COLONY-STIMULATING FACTOR 2; CSF2 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR; GMCSF
Asterisk 138965 CHEMOKINE, CXC MOTIF, LIGAND 6; CXCL6 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 6; SCYB6;; GRANULOCYTE CHEMOTACTIC PROTEIN 2; GCP2
Asterisk 138970 COLONY-STIMULATING FACTOR 3; CSF3 GRANULOCYTE COLONY-STIMULATING FACTOR; GCSF
Asterisk 138971 COLONY-STIMULATING FACTOR 3 RECEPTOR, GRANULOCYTE; CSF3R GRANULOCYTE COLONY-STIMULATING FACTOR RECEPTOR; GCSFR
Asterisk 138972 CCAAT/ENHANCER-BINDING PROTEIN, GAMMA; CEBPG C/EBP-GAMMA;; GRANULOCYTE COLONY-STIMULATING FACTOR PROMOTER ELEMENT 1-BINDING PROTEIN; GPE1BP;; GPE1-BINDING PROTEIN
Asterisk 138981 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB INTERLEUKIN 5 RECEPTOR, BETA; IL5RB;; INTERLEUKIN 3 RECEPTOR, BETA; IL3RB;; COMMON BETA CHAIN;; BETA-C
NULL 138990 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE
NULL 139000 GRANULOSIS RUBRA NASI
Asterisk 139080 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GRAVES DISEASE AUTOANTIGEN), MEMBER 16; SLC25A16 GRAVES DISEASE AUTOANTIGEN; GDA;; D10S105E
Number Sign 139090 GRAY PLATELET SYNDROME; GPS BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;; PLATELET ALPHA-GRANULE DEFICIENCY
Percent 139100 GRAYING OF HAIR, PRECOCIOUS WHITE HAIR, PREMATURE
Asterisk 139110 CHEMOKINE, CXC MOTIF, LIGAND 2; CXCL2 GRO2 ONCOGENE; GRO2;; SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 2; SCYB2;; MACROPHAGE INFLAMMATORY PROTEIN 2; MIP2;; GRO PROTEIN, BETA; GROB;; MIP2-ALPHA; MIP2A
Asterisk 139111 CHEMOKINE, CXC MOTIF, LIGAND 3; CXCL3 GRO3 ONCOGENE; GRO3;; SMALL INDUCIBLE CYTOKINE SUBFAMILY B; MEMBER 3; SCYB3;; GRO PROTEIN, GAMMA; GROG;; MACROPHAGE INFLAMMATORY PROTEIN-2-BETA; MIP2B
Asterisk 139130 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3; GNB3
Asterisk 139139 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 1; NR4A1 HORMONE RECEPTOR; HMR;; GROWTH FACTOR INDUCIBLE NUCLEAR PROTEIN N10; NP10;; GROWTH FACTOR RESPONSE PROTEIN 1; GFRP1;; NAK1;; NUCLEAR HORMONE RECEPTOR TR3; TR3;; NUR77, MOUSE, HOMOLOG OF; NUR77;; NGFIB
Caret 139145 MOVED TO 139139
Asterisk 139150 RAS p21 PROTEIN ACTIVATOR 1; RASA1 GUANOSINE TRIPHOSPHATASE-ACTIVATING PROTEIN;; GTPase-ACTIVATING PROTEIN; GAP;; p120 RASGAP
Asterisk 139160 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA Z POLYPEPTIDE; GNAZ
Asterisk 139180 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING, POLYPEPTIDE 2 PSEUDOGENE 1; GNAI2P1 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING, POLYPEPTIDE-h; GNAIH;; GUANINE NUCLEOTIDE-BINDING PROTEIN, POLYPEPTIDE 2A; GNAI2A;; GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING, POLYPEPTIDE-2-LIKE; GNAI2L
Asterisk 139185 GROWTH ARREST-SPECIFIC 1; GAS1
Asterisk 139190 GROWTH HORMONE-RELEASING HORMONE; GHRH SOMATOCRININ;; GROWTH HORMONE-RELEASING FACTOR; GHRF
Asterisk 139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR GROWTH HORMONE-RELEASING FACTOR RECEPTOR; GHRFR
Asterisk 139200 GROUP-SPECIFIC COMPONENT; GC VITAMIN D-BINDING PROTEIN; DBP; VDBP;; VITAMIN D-BINDING ALPHA-GLOBULIN; VDBG
Number Sign 139210 MYHRE SYNDROME; MYHRS GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;; LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE; LAPS SYNDROME
Caret 139220 REMOVED FROM DATABASE
Caret 139230 REMOVED FROM DATABASE
Asterisk 139240 GROWTH HORMONE 2; GH2 GROWTH HORMONE, VARIANT; GHV;; GROWTH HORMONE, PLACENTAL; GH2;; GROWTH HORMONE-LIKE; GHL
Asterisk 139250 GROWTH HORMONE 1; GH1 GH;; GROWTH HORMONE, NORMAL; GHN;; GROWTH HORMONE, PITUITARY
Asterisk 139255 METALLOTHIONEIN 3; MT3 METALLOTHIONEIN III;; GROWTH INHIBITORY FACTOR, BRAIN; GIFB;; GROWTH INHIBITORY FACTOR, NEUROTROPHIC; GRIF
Asterisk 139259 G1- TO S-PHASE TRANSITION 1; GSPT1 GST1, YEAST, HOMOLOG OF; GST1;; PEPTIDE CHAIN RELEASE FACTOR 3A; ERF3A;; ETF3A
Asterisk 139260 GUANINE DEAMINASE; GDA GUANASE;; CYTOPLASMIC PSD95 INTERACTOR; CYPIN
Asterisk 139265 GUANOSINE MONOPHOSPHATE REDUCTASE; GMPR GUANOSINE MONOPHOSPHATE REDUCTASE 1; GMPR1;; GMP REDUCTASE
Asterisk 139270 GUANYLATE KINASE 1; GUK1 GMP KINASE; GMK;; ATP:GMP PHOSPHOTRANSFERASE
NULL 139280 GUANYLATE KINASE 2; GUK2
NULL 139290 GUANYLATE KINASE 3; GUK3
Number Sign 139300 AROMATASE EXCESS SYNDROME; AEXS AROMATASE ACTIVITY, INCREASED GYNECOMASTIA, FAMILIAL, DUE TO INCREASED AROMATASE ACTIVITY, INCLUDED;; GYNECOMASTIA, HEREDITARY, INCLUDED
Asterisk 139310 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 1; GNAI1 G PROTEIN, ALPHA-INHIBITING 1; Gi;; INHIBITORY G PROTEIN;; ADENYLATE CYCLASE INHIBITORY PROTEIN
Asterisk 139311 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE O; GNAO1 Go, ALPHA SUBUNIT;; GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-'OTHER'; GNAO;; G-ALPHA-o
Asterisk 139312 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE, OLFACTORY TYPE; GNAL G-ALPHA-OLF
Asterisk 139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11
Asterisk 139314 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-15; GNA15 GNA16, FORMERLY
Asterisk 139320 GNAS COMPLEX LOCUS; GNAS GNAS1 GENE, FORMERLY; GNAS1, FORMERLY GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE 1, INCLUDED; GNAS1, INCLUDED;; Gs, ALPHA SUBUNIT, INCLUDED;; STIMULATORY G PROTEIN, INCLUDED;; ADENYLATE CYCLASE STIMULATORY PROTEIN, ALPHA SUBUNIT, INCLUDED;; SECRETOGRANIN VI, INCLUDED;; NEUROENDOCRINE SECRETORY PROTEIN 55, INCLUDED; NESP55, INCLUDED;; XL-ALPHA-S, INCLUDED; XLAS, INCLUDED;; A/B TRANSCRIPT, INCLUDED;; ALTERNATIVE GENE PRODUCT ENCODED BY THE XL EXON, INCLUDED; ALEX, INCLUDED
Asterisk 139330 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE 1; GNAT1 G PROTEIN, ALPHA-TRANSDUCING 1;; TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE
Asterisk 139340 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE 2; GNAT2 G PROTEIN, ALPHA-TRANSDUCING 2;; TRANSDUCIN, CONE-SPECIFIC, ALPHA POLYPEPTIDE
Asterisk 139350 KERATIN 1, TYPE II; KRT1 K1;; KB1;; CYTOKERATIN 1; CK1
Asterisk 139360 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 2; GNAI2 G PROTEIN, ALPHA-INHIBITING 2B; GNAI2B
Asterisk 139370 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 3; GNAI3 G PROTEIN, ALPHA-INHIBITING 3
Asterisk 139380 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-1; GNB1 TRANSDUCIN, BETA POLYPEPTIDE
Asterisk 139390 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-2; GNB2
Asterisk 139391 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-TRANSDUCING ACTIVITY POLYPEPTIDE 2; GNGT2
Asterisk 139392 GUANYLATE CYCLASE ACTIVATOR 2A; GUCA2A GUCA2;; GUANYLIN;; GUANYLIN 2, INTESTINAL
Number Sign 139393 GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, ACUTE; AIDP POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, CHRONIC, INCLUDED; CIDP, INCLUDED
Asterisk 139395 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE 3; GNAT3 GUSTDUCIN, ALPHA POLYPEPTIDE;; GDCA;; GUSTATORY G PROTEIN
Asterisk 139396 GUANYLATE CYCLASE 1, SOLUBLE, ALPHA-3; GUCY1A3 GUANYLYL CYCLASE, SOLUBLE, ALPHA-3; GUCA3;; GUANYLATE CYCLASE, SOLUBLE, ALPHA-1; GUCY1A1;; GUANYLYL CYCLASE, NITRIC OXIDE-SENSITIVE, ALPHA-1 SUBUNIT;; NITRIC OXIDE-SENSITIVE GUANYLYL CYCLASE, ALPHA-1 SUBUNIT;; NOGC, ALPHA-1 SUBUNIT
Asterisk 139397 GUANYLATE CYCLASE 1, SOLUBLE, BETA-3; GUCY1B3 GUANYLYL CYCLASE, SOLUBLE, BETA-3; GUCB3;; GUANYLATE CYCLASE, SOLUBLE, BETA-1; GUCY1B1;; GUANYLYL CYCLASE, NITRIC OXIDE-SENSITIVE, BETA-1 SUBUNIT;; NITRIC OXIDE-SENSITIVE GUANYLYL CYCLASE, BETA-1 SUBUNIT;; NOGC, BETA-1 SUBUNIT
NULL 139400 HAIR WHORL COWLICK; CROWN DOUBLE HAIR WHORL, INCLUDED
Percent 139450 HAIR MORPHOLOGY 2; HRM2 CURLY HAIR;; HAIR CURVATURE, VARIATION IN
NULL 139500 HAIRY EARS HYPERTRICHOSIS PINNAE AURIS
Percent 139600 HAIRY ELBOWS HYPERTRICHOSIS CUBITI
Asterisk 139605 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 1; HES1 HAIRY, DROSOPHILA, HOMOLOG OF; HRY
NULL 139630 HAIRY NOSE TIP
Percent 139650 HAIRY PALMS AND SOLES CIRCUMSCRIBED HAIRY DYSEMBRYOPLASIA OF PALMS
NULL 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES
NULL 139800 HAND CLASPING PATTERN
Percent 139900 HAND SKILL, RELATIVE; HSR HANDEDNESS
Number Sign 140000 HAND-FOOT-GENITAL SYNDROME; HFG HAND-FOOT-UTERUS SYNDROME; HFU
Asterisk 140050 GRANZYME A; GZMA HANUKAH FACTOR SERINE PROTEASE; HFSP;; CYTOLYTIC T CELL- AND NATURAL KILLER CELL-SPECIFIC TRYPSIN-LIKE SERINE PROTEASE;; CYTOTOXIC T-LYMPHOCYTE-ASSOCIATED SERINE ESTERASE 3; CTLA3
Caret 140090 MOVED TO 189903
Asterisk 140100 HAPTOGLOBIN; HP HAPTOGLOBIN, ALPHA POLYPEPTIDE, INCLUDED;; HAPTOGLOBIN, BETA POLYPEPTIDE, INCLUDED;; Bp, INCLUDED
Asterisk 140210 HAPTOGLOBIN-RELATED PROTEIN GENE; HPR
Percent 140300 HASHIMOTO THYROIDITIS HT;; HASHIMOTO STRUMA;; HYPOTHYROIDISM, AUTOIMMUNE THYROID AUTOANTIBODIES, INCLUDED
Caret 140340 MOVED TO 125370
Number Sign 140350 HAWKINSINURIA
Percent 140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2 PFHBII
NULL 140450 HEART-HAND SYNDROME, SPANISH TYPE
NULL 140500 HEART, MALFORMATION OF
Asterisk 140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A HEAT-SHOCK 70-KD PROTEIN 1; HSPA1;; HEAT-SHOCK PROTEIN, 70-KD, 1;; HSP70-1;; HSP70-1A;; HSP72;; HEAT-SHOCK 70-KD PROTEIN, INDUCIBLE; HSP70I
Asterisk 140555 HEAT-SHOCK 70-KD PROTEIN 6; HSPA6 HSP70B-PRIME
Asterisk 140556 HEAT-SHOCK 70-KD PROTEIN 7; HSPA7 HSP70B
Asterisk 140559 HEAT-SHOCK 70-KD PROTEIN-LIKE 1; HSPA1L HEAT-SHOCK PROTEIN, 70-KD, HOMOLOGOUS;; HSP70-HOM;; HSP70-1L;; HSP70T
Asterisk 140560 HEAT-SHOCK 70-KD PROTEIN 2; HSPA2 HEAT-SHOCK PROTEIN, 70-KD, 2;; HSP70-2;; HEAT-SHOCK PROTEIN, 70-KD, 3;; HSP70-3
Caret 140570 MOVED TO 140550
Asterisk 140571 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS A, MEMBER 1; HSP90AA1 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA, FORMERLY; HSPCA, FORMERLY;; HSPC1;; HSP90A;; HSP89-ALPHA; HSP89A;; HEAT-SHOCK 90-KD PROTEIN 1, ALPHA-LIKE 4; HSPCAL4;; LIPOPOLYSACCHARIDE-ASSOCIATED PROTEIN 2; LAP2;; LPS-ASSOCIATED PROTEIN 2
Asterisk 140572 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS B, MEMBER 1; HSP90AB1 HEAT-SHOCK 90-KD PROTEIN 1, BETA, FORMERLY; HSPCB, FORMERLY;; HSPC2;; HSP90B
Caret 140573 MOVED TO 140571
Caret 140574 MOVED TO 140571
Asterisk 140575 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS A, MEMBER 2; HSP90AA2 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA-LIKE 3, FORMERLY; HSPCAL3, FORMERLY
Caret 140576 MOVED TO 140571
Asterisk 140580 HEAT-SHOCK TRANSCRIPTION FACTOR 1; HSF1 HEAT-SHOCK FACTOR 1
Asterisk 140581 HEAT-SHOCK TRANSCRIPTION FACTOR 2; HSF2 HEAT-SHOCK FACTOR 2
Number Sign 140600 OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2 OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS;; OADIP;; DIPOA;; HAND OSTEOARTHRITIS; HOA HEBERDEN NODES, INCLUDED
Number Sign 140700 HEINZ BODY ANEMIAS
Asterisk 140750 SUPPRESSOR OF TUMORIGENICITY 5; ST5 HELA TUMOR SUPPRESSION; HTS1
NULL 140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE RAPHE, SUPRAUMBILICAL MIDLINE, WITH CAVERNOUS FACIAL HEMANGIOMAS;; STERNAL NONUNION WITH SUPRAUMBILICAL RAPHE
NULL 140900 HEMANGIOMAS OF SMALL INTESTINE
NULL 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME KASABACH-MERRITT SYNDROME; KMS
Asterisk 141180 HEMATOPOIETIC PROTEIN HEM-1; HEM1
Number Sign 141200 HEMATURIA, BENIGN FAMILIAL; BFH THIN-BASEMENT-MEMBRANE NEPHROPATHY;; THIN MEMBRANE NEPHROPATHY; TMN
Asterisk 141250 HEME OXYGENASE 1; HMOX1 HEMOXYGENASE 1; HO1;; HEAT SHOCK PROTEIN, 32-KD; HSP32
Asterisk 141251 HEME OXYGENASE 2; HMOX2 HEMOXYGENASE 2
Percent 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA PARRY-ROMBERG SYNDROME
Percent 141350 HEMIFACIAL HYPERPLASIA WITH STRABISMUS BENCZE SYNDROME
Percent 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS GOLDENHAR SYNDROME WITH IPSILATERAL RADIAL DEFECT;; OCULOAURICULOVERTEBRAL SPECTRUM WITH RADIAL DEFECT;; OAVS WITH RADIAL DEFECT
NULL 141405 HEMIFACIAL SPASM, FAMILIAL
Number Sign 141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 FHM;; MHP1 MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED;; MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED
NULL 141700 HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES
Number Sign 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1 HEMOGLOBIN F, HEREDITARY PERSISTENCE OF; HPFH;; HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, HB GENE CLUSTER-RELATED DELTA-BETA THALASSEMIA, INCLUDED
Number Sign 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE;; ATR-16 SYNDROME;; ATR, DELETION-TYPE;; HEMOGLOBIN H-RELATED MENTAL RETARDATION; HBHR;; MENTAL RETARDATION WITH HEMOGLOBIN H;; CHROMOSOME 16p DELETION SYNDROME
Plus 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1 3-PRIME ALPHA-GLOBIN GENE;; MINOR ALPHA-GLOBIN LOCUS METHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE, INCLUDED;; ERYTHREMIA, ALPHA-GLOBIN TYPE, INCLUDED
Asterisk 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2 5-PRIME ALPHA-GLOBIN GENE;; ALPHA-GLOBIN LOCUS, SECOND;; MAJOR ALPHA-GLOBIN LOCUS
Asterisk 141860 HEMOGLOBIN--ALPHA LOCUS 3 ALPHA-GLOBIN LOCUS, THIRD
Plus 141900 HEMOGLOBIN--BETA LOCUS; HBB METHEMOGLOBINEMIA, BETA-GLOBIN TYPE, INCLUDED;; ERYTHREMIA, BETA-GLOBIN TYPE, INCLUDED
Caret 141940 MOVED TO 141900
Asterisk 142000 HEMOGLOBIN--DELTA LOCUS; HBD
Asterisk 142100 HEMOGLOBIN--EPSILON LOCUS; HBE1
Asterisk 142200 HEMOGLOBIN, GAMMA A; HBG1 HEMOGLOBIN--GAMMA LOCUS, 136 ALANINE
Asterisk 142210 HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER D; HIST1H1D HISTONE GENE CLUSTER 1, H1D;; HIST1 ClUSTER, H1D;; H1D;; H1.3;; H1 HISTONE FAMILY, MEMBER 3, FORMERLY; H1F3, FORMERLY
Asterisk 142220 HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER E; HIST1H1E HISTONE GENE CLUSTER 1, H1E;; HIST1 CLUSTER, H1E;; H1E;; H1.4;; H1 HISTONE FAMILY, MEMBER 4, FORMERLY; H1F4, FORMERLY
Asterisk 142230 HEMATOPOIETIC PROGENITOR CELL ANTIGEN CD34; CD34
Asterisk 142240 HEMOGLOBIN--THETA-1 LOCUS; HBQ1
Asterisk 142250 HEMOGLOBIN, GAMMA G; HBG2 HEMOGLOBIN--GAMMA LOCUS, 136 GLYCINE
Caret 142270 MOVED TO 142200
Asterisk 142290 HEMOPEXIN; HPX
Caret 142300 MOVED TO 142310
Number Sign 142309 HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS UNKNOWN OR UNCERTAIN
Asterisk 142310 HEMOGLOBIN--ZETA LOCUS; HBZ HEMOGLOBIN ZETA;; 5-PRIME ZETA LOCUS;; HEMOGLOBIN ZETA-2, FORMERLY; HBZ2, FORMERLY
Number Sign 142330 HEPATIC ADENOMAS, FAMILIAL LIVER CELL ADENOMAS, FAMILIAL
Caret 142333 MOVED TO 114550
Percent 142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5
Percent 142340 DIAPHRAGMATIC HERNIA, CONGENITAL DIH;; HERNIA, CONGENITAL DIAPHRAGMATIC; HCD; CDH;; DIAPHRAGMATIC DEFECT, CONGENITAL;; DIAPHRAGM, UNILATERAL AGENESIS OF;; HEMIDIAPHRAGM, AGENESIS OF DIAPHRAGMATIC HERNIA 1, INCLUDED; DIH1, INCLUDED;; DIAPHRAGM, COMPLETE AGENESIS OF, INCLUDED
NULL 142350 HERNIA, DOUBLE INGUINAL
Asterisk 142360 HEPARIN COFACTOR II; HCF2 LEUSERPIN 2; LS2;; SERPIND1
Asterisk 142370 HEMOPOIETIC CELL KINASE; HCK
Caret 142380 MOVED TO 114550
Asterisk 142385 HEPATIC LEUKEMIA FACTOR; HLF HLF/E2A FUSION GENE, INCLUDED
Asterisk 142390 HEPATIC PROTEIN; HEP10
Number Sign 142395 HEPATITIS B VACCINE, RESPONSE TO HBV VACCINE, RESPONSE TO
Percent 142400 HERNIA, HIATUS HIATAL HERNIA
Asterisk 142408 MACROPHAGE STIMULATING 1; MST1 HEPATOCYTE GROWTH FACTOR-LIKE PROTEIN; HGFL;; MACROPHAGE STIMULATING PROTEIN; MSP
Asterisk 142409 HEPATOCYTE GROWTH FACTOR; HGF SCATTER FACTOR; SF;; LUNG FIBROBLAST-DERIVED MITOGEN;; HEPATOPOIETIN A
Asterisk 142410 HNF1 HOMEOBOX A; HNF1A TRANSCRIPTION FACTOR 1; TCF1;; HEPATOCYTE NUCLEAR FACTOR-1-ALPHA;; HEPATOCYTE NUCLEAR FACTOR 1; HNF1;; HEPATIC NUCLEAR FACTOR-1-ALPHA;; ALBUMIN PROXIMAL FACTOR
Caret 142420 REMOVED FROM DATABASE
Asterisk 142440 HEPSIN; HPN TRANSMEMBRANE PROTEASE, SERINE 1; TMPRSS1
Asterisk 142445 NEUREGULIN 1; NRG1 HEREGULIN, ALPHA; HGL; HRGA;; NEU DIFFERENTIATION FACTOR; NDF;; ACETYLCHOLINE RECEPTOR-INDUCING ACTIVITY, CHICK, HOMOLOG OF; ARIA GLIAL GROWTH FACTOR 2, INCLUDED; GGF2, INCLUDED;; SENSORY AND MOTOR NEURON-DERIVED FACTOR, INCLUDED; SMDF, INCLUDED
Caret 142450 MOVED TO 600644
Asterisk 142460 SYNDECAN 2; SDC2 SYND2;; HEPARAN SULFATE PROTEOGLYCAN; HSPG;; HSPG1;; FIBROGLYCAN
Asterisk 142461 HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE; HSPG2 PERLECAN; PLC
Percent 142470 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2
NULL 142500 HETEROCHROMIA IRIDIS
Caret 142510 MOVED TO 300049
Caret 142550 MOVED TO 142600
Asterisk 142560 DEAD BOX POLYPEPTIDE 39B; DDX39B HLA-B-ASSOCIATED TRANSCRIPT 1; BAT1;; U2AF65-ASSOCIATED PROTEIN, 56-KD; UAP56;; D6S81E
Asterisk 142570 HEXOKINASE 3; HK3 HEXOKINASE, WHITE CELL
Asterisk 142580 PROLINE-RICH COILED-COIL PROTEIN 2A; PRRC2A HLA-B-ASSOCIATED TRANSCRIPT 2; BAT2;; D6S51E
Asterisk 142590 BCL2-ASSOCIATED ATHANOGENE 6; BAG6 SCYTHE, XENOPUS, HOMOLOG OF;; HLA-B-ASSOCIATED TRANSCRIPT 3; BAT3;; D6S52E
Asterisk 142600 HEXOKINASE 1; HK1
Asterisk 142610 G-PATCH DOMAIN- AND ANKYRIN REPEATS-CONTAINING PROTEIN 1; GPANK1 HLA-B-ASSOCIATED TRANSCRIPT 4; BAT4;; D6S54E
Asterisk 142620 ABHYDROLASE DOMAIN-CONTAINING 16A; ABHD16A HLA-B-ASSOCIATED TRANSCRIPT 5; BAT5;; D6S82E
Asterisk 142622 HIPPOCALCIN; HPCA
Number Sign 142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 HIRSCHSPRUNG DISEASE; HSCR;; AGANGLIONIC MEGACOLON;; MEGACOLON, AGANGLIONIC; MGC
NULL 142625 HIRSUTISM, SKELETAL DYSPLASIA, AND MENTAL RETARDATION
NULL 142630 HISTIOCYTOSIS, PROGRESSIVE MUCINOUS
Asterisk 142640 HISTIDINE-RICH GLYCOPROTEIN; HRG HRGP
NULL 142660 HEXOSAMINIDASE C; HEXC
Number Sign 142669 BEUKES HIP DYSPLASIA; BHD HIP DYSPLASIA, BEUKES TYPE;; BEUKES FAMILIAL HIP DYSPLASIA; BFHD;; OSTEOARTHROPATHY, PREMATURE DEGENERATIVE, OF HIP
Number Sign 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT FPF;; HIBERNIAN FEVER, FAMILIAL; FHF;; FAMILIAL HIBERNIAN FEVER;; TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME; TRAPS;; TNF RECEPTOR-ASSOCIATED PERIODIC SYNDROME
Number Sign 142690 ACNE INVERSA, FAMILIAL, 1; ACNINV1 ACNE INVERSA, FAMILIAL;; HIDRADENITIS SUPPURATIVA, FAMILIAL
Asterisk 142695 HIGH DENSITY LIPOPROTEIN-BINDING PROTEIN; HDLBP VIGILIN; VGL
Percent 142700 DEVELOPMENTAL DYSPLASIA OF THE HIP 1; DDH1 HIP DYSPLASIA, DEVELOPMENTAL; DDH;; HIP DYSPLASIA, CONGENITAL; CDH;; ACETABULAR DYSPLASIA
Asterisk 142701 HISTATIN 1; HTN1 HIS1 PAROTID BASIC PROTEIN, POST-, INCLUDED;; POST-PB PROTEIN, INCLUDED; PPB, INCLUDED
Asterisk 142702 HISTATIN 3; HTN3 HISTATIN 2; HTN2; HIS2 HISTATIN 5, INCLUDED; HTN5, INCLUDED;; PB, INCLUDED
Asterisk 142703 HISTAMINE RECEPTOR H2; HRH2
Asterisk 142704 HISTIDINE DECARBOXYLASE; HDC
Asterisk 142705 HISTIDINE-RICH CALCIUM-BINDING PROTEIN; HRC
Asterisk 142708 H1 HISTONE FAMILY, MEMBER 0; H1F0 H1.0;; H1-0 HISTONE;; H1FV
Asterisk 142709 HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER A; HIST1H1A HISTONE GENE CLUSTER 1, H1A;; HIST1 CLUSTER, H1A;; H1A;; H1.1;; H1 HISTONE FAMILY, MEMBER 1, FORMERLY; H1F1, FORMERLY
Asterisk 142710 HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER C; HIST1H1C HISTONE GENE CLUSTER 1, H1C;; HIST1 CLUSTER, H1C;; H1C;; H1.2;; H1 HISTONE FAMILY, MEMBER 2, FORMERLY; H1F2; FORMERLY
Asterisk 142711 HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER B; HIST1H1B HISTONE GENE CLUSTER 1, H1B;; HIST1 CLUSTER, H1B;; H1B;; H1.5;; H1 HISTONE FAMILY, MEMBER 5, FORMERLY; H1F5, FORMERLY
Asterisk 142712 HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER T; HIST1H1T HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, TESTIS-SPECIFIC MEMBER;; HISTONE GENE CLUSTER 1, H1T;; HIST1 CLUSTER, H1T;; H1T;; H1.T;; H1 HISTONE, TESTIS-SPECIFIC;; H1 HISTONE FAMILY, MEMBER T, FORMERLY; H1FT, FORMERLY
Asterisk 142720 HISTONE GENE CLUSTER 2, H2A HISTONE FAMILY, MEMBER A3; HIST2H2AA3 HISTONE GENE CLUSTER 2, H2AA3;; HIST2 CLUSTER, H2AA3;; H2A HISTONE FAMILY, MEMBER O; H2AFO;; H2A/O;; H2A.2;; HIST2H2AA
NULL 142730 HISTIOCYTIC DERMATOARTHRITIS
Asterisk 142750 HISTONE GENE CLUSTER 2, H4 HISTONE FAMILY, MEMBER A; HIST2H4A HISTONE GENE CLUSTER 2, H4A;; HIST2 CLUSTER, H4A;; HIST2H4;; H4 HISTONE FAMILY, MEMBER N; H4FN;; H4 HISTONE, FAMILY 2; H4F2
Caret 142760 MOVED TO 142720
Asterisk 142763 H2A HISTONE FAMILY, MEMBER Z; H2AFZ H2AZ HISTONE;; H2AZ
Asterisk 142765 REGULATORY FACTOR X, 2; RFX2 HLA CLASS II REGULATORY FACTOR RFX2
NULL 142770 HLA MODIFIER
Asterisk 142780 HISTONE GENE CLUSTER 2, H3 HISTONE FAMILY, MEMBER C; HIST2H3C HISTONE GENE CLUSTER 2, H3C;; HIST2 CLUSTER, H3C;; H3 HISTONE, FAMILY 2; H3F2;; H3 HISTONE FAMILY, MEMBER N; H3FN;; H3 HISTONE FAMILY, MEMBER M; H3FM;; H3/M;; H3.2
Asterisk 142790 CD74 ANTIGEN; CD74 INVARIANT POLYPEPTIDE OF MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II ANTIGEN-ASSOCIATED;; HLA-DR-GAMMA; DHLAG; HLADG;; Ia-GAMMA;; Ia-ASSOCIATED INVARIANT CHAIN;; HISTOCOMPATIBILITY: CLASS II ANTIGENS, GAMMA CHAIN OF;; INVARIANT CHAIN; II
Asterisk 142795 HLA-8 HISTOCOMPATIBILITY TYPE; HLA8
Asterisk 142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A HLA-A HISTOCOMPATIBILITY TYPE MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, H PSEUDOGENE, INCLUDED; HLA-H, INCLUDED;; MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, J PSEUDOGENE, INCLUDED; HLA-J, INCLUDED
Asterisk 142810 HISTIDYL-tRNA SYNTHETASE; HARS HRS;; HISRS
Plus 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B HLA-B HISTOCOMPATIBILITY TYPE ABACAVIR HYPERSENSITIVITY, SUSCEPTIBILITY TO, INCLUDED;; SYNOVITIS, CHRONIC, SUSCEPTIBILITY TO, INCLUDED;; DRUG-INDUCED LIVER INJURY DUE TO FLUCLOXACILLIN, INCLUDED
Asterisk 142840 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, C; HLA-C HLA-C HISTOCOMPATIBILITY TYPE
Caret 142850 MOVED TO 142860
Asterisk 142855 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DM ALPHA; HLA-DMA HLA-DM HISTOCOMPATIBILITY TYPE, ALPHA CHAIN;; HLADM;; RING6
Asterisk 142856 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DM BETA; HLA-DMB HLA-DM HISTOCOMPATIBILITY TYPE, BETA CHAIN;; HLADMB;; RING7
Asterisk 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1
Asterisk 142858 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP BETA-1; HLA-DPB1 HLA-DP HISTOCOMPATIBILITY TYPE, BETA-1 SUBUNIT
Asterisk 142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA HLA-DRA1;; HLA-DR HISTOCOMPATIBILITY TYPE;; HLA-D HISTOCOMPATIBILITY TYPE
Caret 142870 REMOVED FROM DATABASE
Asterisk 142871 HLA-G HISTOCOMPATIBILITY ANTIGEN, CLASS I; HLA-G HLA-6.0; HLA60;; T-CELL A LOCUS; TCA
Asterisk 142880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1 HLA-DP;; HLA-SB HISTOCOMPATIBILITY TYPE; HLA-SB
Asterisk 142890 HLA-MT HISTOCOMPATIBILITY TYPE; HLA-MT
Number Sign 142900 HOLT-ORAM SYNDROME; HOS HOS1;; HEART-HAND SYNDROME;; ATRIODIGITAL DYSPLASIA
Plus 142910 3-HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE; HMGCR HMG-CoA REDUCTASE LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3, INCLUDED; LDLCQ3, INCLUDED;; STATINS, ATTENUATED CHOLESTEROL LOWERING BY, INCLUDED
Asterisk 142920 HLA-DO HISTOCOMPATIBILITY TYPE; HLA-DO
Caret 142925 MOVED TO 142800
Asterisk 142930 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DN ALPHA; HLA-DNA HLA-DZ HISTOCOMPATIBILITY TYPE; HLADZ
Asterisk 142940 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 1; HMGCS1 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE, SOLUBLE;; HMG-CoA SYNTHASE, CYTOSOLIC; HMGCS
Number Sign 142945 HOLOPROSENCEPHALY 3; HPE3 HLP3
Number Sign 142946 HOLOPROSENCEPHALY 4; HPE4
Asterisk 142950 HOMEOBOX A7; HOXA7 HOMEOBOX 1A; HOX1A;; Hox-1.1, MOUSE, HOMOLOG OF;; Antp, DROSOPHILA, HOMOLOG OF
Asterisk 142951 HOMEOBOX A6; HOXA6 HOMEOBOX 1B; HOX1B;; Hox-1.2, MOUSE, HOMOLOG OF
Asterisk 142952 HOMEOBOX A5; HOXA5 HOMEOBOX 1C; HOX1C;; Hox-1.3, MOUSE, HOMOLOG OF
Asterisk 142953 HOMEOBOX A4; HOXA4 HOMEOBOX 1D; HOX1D;; Hox-1.4, MOUSE, HOMOLOG OF;; Dfd, DROSOPHILA, HOMOLOG OF
Asterisk 142954 HOMEOBOX A3; HOXA3 HOMEOBOX 1E; HOX1E;; Hox-1.5, MOUSE, HOMOLOG OF
Asterisk 142955 HOMEOBOX A1; HOXA1 HOMEOBOX 1F; HOX1F;; Hox-1.6, MOUSE, HOMOLOG OF;; lab, DROSOPHILA, HOMOLOG OF
Asterisk 142956 HOMEOBOX A9; HOXA9 HOMEOBOX 1G; HOX1G;; Hox-1.7, MOUSE, HOMOLOG OF;; Abd-B, DROSOPHILA, HOMOLOG OF HOXA9/NUP98 FUSION GENE, INCLUDED;; HOXA9/MSI2 FUSION GENE, INCLUDED
Asterisk 142957 HOMEOBOX A10; HOXA10 HOMEOBOX 1H; HOX1H
Asterisk 142958 HOMEOBOX A11; HOXA11 HOMEOBOX 1I; HOX1I
Asterisk 142959 HOMEOBOX A13; HOXA13 HOMEOBOX 1J; HOX1J
Asterisk 142960 HOMEOBOX B5; HOXB5 HOMEOBOX 2A; HOX2A;; Hox2.1, MOUSE, HOMOLOG OF
Asterisk 142961 HOMEOBOX B6; HOXB6 HOMEOBOX 2B; HOX2B;; Hox-2.2, MOUSE, HOMOLOG OF
Asterisk 142962 HOMEOBOX B7; HOXB7 HOMEOBOX 2C; HOX2C;; Hox-2.3, MOUSE, HOMOLOG OF
Asterisk 142963 HOMEOBOX B8; HOXB8 HOMEOBOX 2D; HOX2D;; Hox-2.4, MOUSE, HOMOLOG OF
Asterisk 142964 HOMEOBOX B9; HOXB9 HOMEOBOX 2E; HOX2E;; Hox-2.5, MOUSE, HOMOLOG OF
Asterisk 142965 HOMEOBOX B4; HOXB4 HOMEOBOX 2F; HOX2F;; Hox-2.6, MOUSE, HOMOLOG OF
Asterisk 142966 HOMEOBOX B3; HOXB3 HOMEOBOX 2G; HOX2G;; Hox-2.7, MOUSE, HOMOLOG OF
Asterisk 142967 HOMEOBOX B2; HOXB2 HOMEOBOX 2H; HOX2H;; Hox-2.8, MOUSE, HOMOLOG OF
Asterisk 142968 HOMEOBOX B1; HOXB1 HOMEOBOX 2I; HOX2I;; Hox-2.9, MOUSE, HOMOLOG OF
Asterisk 142970 HOMEOBOX C8; HOXC8 HOMEOBOX 3A; HOX3A;; Hox-3.1, MOUSE, HOMOLOG OF
Asterisk 142971 HOMEOBOX C9; HOXC9 HOMEOBOX 3B; HOX3B;; Hox-3.2, MOUSE, HOMOLOG OF
Asterisk 142972 HOMEOBOX C6; HOXC6 HOMEOBOX 3C; HOX3C;; Hox-6.1, MOUSE, HOMOLOG OF
Asterisk 142973 HOMEOBOX C5; HOXC5 HOMEOBOX 3D; HOX3D;; Hox-6.2, MOUSE, HOMOLOG OF
Asterisk 142974 HOMEOBOX C4; HOXC4 HOMEOBOX 3E; HOX3E
Asterisk 142975 HOMEOBOX C12; HOXC12 HOMEOBOX 3F; HOX3F
Asterisk 142976 HOMEOBOX C13; HOXC13 HOMEOBOX 3G; HOX3G HOXC13/NUP98 FUSION GENE, INCLUDED
Asterisk 142980 HOMEOBOX D3; HOXD3 HOMEOBOX 4A; HOX4A;; Hox-4.1, MOUSE, HOMOLOG OF
Asterisk 142981 HOMEOBOX D4; HOXD4 HOMEOBOX 4B; HOX4B;; Hox-4.2, MOUSE, HOMOLOG OF;; HOMEOBOX X
Asterisk 142982 HOMEOBOX D9; HOXD9 HOMEOBOX 4C; HOX4C;; Hox-4.3, MOUSE, HOMOLOG OF
Asterisk 142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1 MSH, DROSOPHILA, HOMOLOG OF, 1;; HOMEOBOX 7; HOX7
Asterisk 142984 HOMEOBOX D10; HOXD10 HOMEOBOX 4D; HOX4D;; Hox-4.4, MOUSE, HOMOLOG OF
Asterisk 142985 HOMEOBOX D8; HOXD8 HOMEOBOX 4E; HOX4E;; Hox-4.5, MOUSE, HOMOLOG OF
Asterisk 142986 HOMEOBOX D11; HOXD11 HOMEOBOX 4F; HOX4F;; Hox-4.6, MOUSE, HOMOLOG OF HOXD11/NUP98 FUSION GENE, INCLUDED
Asterisk 142987 HOMEOBOX D1; HOXD1 HOMEOBOX 4G; HOX4G;; Hox-4.7, MOUSE, HOMOLOG OF
Asterisk 142988 HOMEOBOX D12; HOXD12 HOMEOBOX 4H; HOX4H
Asterisk 142989 HOMEOBOX D13; HOXD13 HOMEOBOX 4I; HOX4I
Caret 142990 MOVED TO 142981
Asterisk 142991 EVEN-SKIPPED HOMEOBOX 2; EVX2 HOMEOBOX EVX-2
Asterisk 142992 H6 FAMILY HOMEOBOX 1; HMX1 HOMEOBOX GENE H6; H6;; NKX5.3
Asterisk 142993 VISUAL SYSTEM HOMEOBOX 2; VSX2 HOMEOBOX 10; HOX10;; CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10
Asterisk 142994 MOTOR NEURON AND PANCREAS HOMEOBOX 1; MNX1 HOMEOBOX GENE HB9; HLXB9;; HB9
Asterisk 142995 H.20-LIKE HOMEOBOX 1; HLX1 H.20, DROSOPHILA, HOMOLOG OF;; HOMEOBOX GENE HB24
Asterisk 142996 EVEN-SKIPPED HOMEOBOX 1; EVX1 HOMEOBOX EVX-1
Percent 143000 HORNER SYNDROME, CONGENITAL
Asterisk 143010 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, E; HLA-E HLAE;; HLA-E HISTOCOMPATIBILITY TYPE;; HLA-6.2;; QA1, MOUSE, HOMOLOG OF; QA1
NULL 143020 HPA I RECOGNITION POLYMORPHISM, BETA-GLOBIN-RELATED; HPA1 RESTRICTION FRAGMENT LENGTH POLYMORPHISM, SICKLE CELL ANEMIA-RELATED
Asterisk 143023 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 7; RASSF7 CHROMOSOME 11 OPEN READING FRAME 13; C11ORF13;; HRAS1-RELATED CLUSTER 1; HRC1
Asterisk 143024 GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 1; GNL1 HSR1 GTP-BINDING PROTEIN; HSR1
Asterisk 143025 HTLV-RELATED ENDOGENOUS SEQUENCE 1; HRES1
Asterisk 143030 CD9 ANTIGEN; CD9 LEUKOCYTE ANTIGEN MIC3; MIC3;; ANTIGEN DEFINED BY MONOCLONAL ANTIBODY 602-29
Asterisk 143040 ANTIGEN DEFINED BY MONOCLONAL ANTIBODY F10.44.2 HUMAN LEUKOCYTE ANTIGEN MIC4; MIC4
NULL 143050 HUMERORADIAL SYNOSTOSIS
Asterisk 143054 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 2; HIVEP2 ZAS FAMILY, MEMBER 2; ZAS2;; MAJOR HISTOCOMPATIBILITY COMPLEX-BINDING PROTEIN 2; MBP2;; SCHNURRI, DROSOPHILA, HOMOLOG OF, 2; SHN2;; SCHNURRI 2;; MIBP1
Asterisk 143055 CYCLIN T1; CCNT1 CYCLIN T; CCNT;; CYCLIN C-RELATED PROTEIN;; CDK9-ASSOCIATED C-TYPE CYCLIN
Asterisk 143060 HUMAN LEUKOCYTE ANTIGEN MIC6; MIC6 ANTIGEN DEFINED BY MONOCLONAL ANTIBODY H207
Caret 143065 MOVED TO 107271
Caret 143070 REMOVED FROM DATABASE
Caret 143080 REMOVED FROM DATABASE
Asterisk 143089 HUMAN T-CELL LEUKEMIA VIRUS ENHANCER FACTOR; HTLF
Caret 143090 MOVED TO 138140
Number Sign 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD HUMEROSPINAL DYSOSTOSIS; HSD;; SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE;; CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS; CDMD
Number Sign 143100 HUNTINGTON DISEASE; HD HUNTINGTON CHOREA
Asterisk 143110 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, F; HLA-F HLA-F HISTOCOMPATIBILITY TYPE;; cda12 CLASS I GENE;; HLA-CDA12;; HLA-5.4
Caret 143150 MOVED TO 426000
Asterisk 143170 MALE-ENHANCED ANTIGEN 1; MEA1 MEA
Number Sign 143200 WAGNER VITREORETINOPATHY; WGVRP EROSIVE VITREORETINOPATHY; ERVR;; WAGNER VITREORETINAL DEGENERATION;; HYALOIDEORETINAL DEGENERATION OF WAGNER;; WAGNER SYNDROME 1; WGN1
Number Sign 143400 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2; CAKUT2 URETEROPELVIC JUNCTION OBSTRUCTION; UPJO;; PELVIURETERIC JUNCTION OBSTRUCTION; PUJO;; HYDRONEPHROSIS DUE TO PUJO;; MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MCRD
Asterisk 143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, BETA SUBUNIT; HADHB TRIFUNCTIONAL PROTEIN, BETA SUBUNIT;; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, BETA SUBUNIT;; ECHB
NULL 143460 5-HYDROXYTRYPTAMINE OXYGENASE REGULATOR; HTOR
Number Sign 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD HYPERACTIVITY OF CHILDHOOD
Number Sign 143470 HYPERALPHALIPOPROTEINEMIA 1; HALP1 CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY;; CETP DEFICIENCY HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10, INCLUDED;; HDLCQ10, INCLUDED
Number Sign 143500 GILBERT SYNDROME HYPERBILIRUBINEMIA, GILBERT TYPE; HBLRG;; HYPERBILIRUBINEMIA, ARIAS TYPE;; HYPERBILIRUBINEMIA I
Percent 143850 ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE OHDS;; ORTHOSTATIC HYPOTENSIVE DISORDER;; HYPERBRADYKININISM
Number Sign 143860 HYPERCHLORHIDROSIS, ISOLATED
Number Sign 143870 HYPERCALCIURIA, ABSORPTIVE, 2; HCA2 HYPERCALCIURIA, FAMILIAL IDIOPATHIC
Number Sign 143880 HYPERCALCEMIA, INFANTILE, 1; HCINF1 HYPERCALCEMIA, IDIOPATHIC, OF INFANCY
Number Sign 143890 HYPERCHOLESTEROLEMIA, FAMILIAL FHC; FH;; HYPERLIPOPROTEINEMIA, TYPE II;; HYPERLIPOPROTEINEMIA, TYPE IIA;; HYPER-LOW-DENSITY-LIPOPROTEINEMIA;; HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL;; LDL RECEPTOR DISORDER LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2, INCLUDED; LDLCQ2, INCLUDED
Number Sign 144010 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE;; HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B;; APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE
NULL 144020 HYPERCHOLESTEROLEMIA SUPPRESSOR
NULL 144050 HYPERHEPARINEMIA
NULL 144100 HYPERHIDROSIS, GUSTATORY; HYPRG GUSTATORY SWEATING;; FREY SYNDROME;; AURICULOTEMPORAL NERVE SYNDROME
Percent 144110 HYPERHIDROSIS PALMARIS ET PLANTARIS; HYPRPP HYPERHIDROSIS, PRIMARY PALMAR
NULL 144120 HYPERIMMUNOGLOBULIN G1(A1) SYNDROME
Percent 144150 HYPERKERATOSIS LENTICULARIS PERSTANS; HLP FLEGEL DISEASE
NULL 144190 HYPERKERATOSIS-HYPERPIGMENTATION SYNDROME
Number Sign 144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK PPKE;; KERATODERMA, EPIDERMOLYTIC PALMOPLANTAR;; PALMOPLANTAR KERATODERMA, VORNER TYPE;; HYPERKERATOSIS, LOCALIZED EPIDERMOLYTIC;; KERATOSIS PALMARIS ET PLANTARIS FAMILIARIS;; TYLOSIS;; KERATOSIS OF GREITHER PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS, INCLUDED
Number Sign 144250 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL FAMILIAL COMBINED HYPERLIPIDEMIA
NULL 144300 HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS
Caret 144400 MOVED TO 143890
NULL 144600 HYPERLIPOPROTEINEMIA, TYPE IV CARBOHYDRATE-INDUCIBLE HYPERLIPEMIA
Number Sign 144650 HYPERLIPOPROTEINEMIA, TYPE V HYPERLIPIDEMIA, TYPE V;; HYPERCHYLOMICRONEMIA, LATE-ONSET;; HYPERCHYLOMICRONEMIA WITH HYPERPREBETALIPOPROTEINEMIA, FAMILIAL;; HYPERLIPEMIA, MIXED;; HYPERLIPEMIA, COMBINED FAT AND CARBOHYDRATE-INDUCED
Number Sign 144700 RENAL CELL CARCINOMA, NONPAPILLARY; RCC HYPERNEPHROMA;; ADENOCARCINOMA OF KIDNEY NONPAPILLARY RENAL CARCINOMA 1 LOCUS, INCLUDED; NRC1, INCLUDED
Number Sign 144750 ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS;; OSTEOSCLEROSIS, AUTOSOMAL DOMINANT
Percent 144755 HYPEROSTOSIS CRANIALIS INTERNA
NULL 144800 HYPEROSTOSIS FRONTALIS INTERNA MORGAGNI-STEWART-MOREL SYNDROME
Number Sign 145000 HYPERPARATHYROIDISM 1; HRPT1 HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY; FIHP PARATHYROID ADENOMA, FAMILIAL, INCLUDED
Number Sign 145001 HYPERPARATHYROIDISM 2 WITH JAW TUMORS; HRPT2 HYPERPARATHYROIDISM, FAMILIAL PRIMARY, WITH MULTIPLE OSSIFYING JAW FIBROMAS;; HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY; HPT-JT PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC, INCLUDED
Percent 145100 HYPERPIGMENTATION OF EYELIDS
NULL 145200 HYPERPIGMENTATION OF FULDAUER AND KUIJPERS
Number Sign 145250 HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH MELANOSIS UNIVERSALIS HEREDITARIA; MUH;; HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2, FORMERLY; FPH2, FORMERLY
Percent 145260 PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL;; HYPERTENSIVE HYPERKALEMIA, FAMILIAL;; GORDON HYPERKALEMIA-HYPERTENSION SYNDROME
NULL 145270 HYPERPROGLUCAGONEMIA GLUCAGON, LARGE MOLECULAR WEIGHT SPECIES OF
NULL 145290 HYPERREFLEXIA; HRX
NULL 145295 HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL
NULL 145300 HYPERSENSITIVITY PNEUMONITIS, FAMILIAL
NULL 145350 HYPERTAURINURIC CARDIOMYOPATHY
Percent 145400 HYPERTELORISM
Number Sign 145410 OPITZ GBBB SYNDROME, TYPE II; GBBB2 OPITZ GBBB SYNDROME, AUTOSOMAL DOMINANT;; HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS;; G SYNDROME;; HYPOSPADIAS-DYSPHAGIA SYNDROME;; OPITZ-FRIAS SYNDROME;; OPITZ-G SYNDROME, TYPE II; OGS2;; TELECANTHUS WITH ASSOCIATED ABNORMALITIES;; BBB SYNDROME;; HYPERTELORISM-HYPOSPADIAS SYNDROME;; TELECANTHUS-HYPOSPADIAS SYNDROME;; OPITZ BBBG SYNDROME;; GBBB SYNDROME;; OPITZ OCULOGENITOLARYNGEAL SYNDROME, TYPE II;; CHROMOSOME 22q11.2 DELETION SYNDROME, OPITZ PHENOTYPE
Percent 145420 HYPERTELORISM, TEEBI TYPE BRACHYCEPHALOFRONTONASAL DYSPLASIA
Number Sign 145500 HYPERTENSION, ESSENTIAL EHT
Asterisk 145505 ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 3; ACSM3 SA, RAT, HOMOLOG OF; SA; SAH
NULL 145590 HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA FARMER SYNDROME
Number Sign 145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 MHS;; HYPERTHERMIA OF ANESTHESIA;; HYPERPYREXIA, MALIGNANT; MH KING SYNDROME, INCLUDED;; KING-DENBOROUGH SYNDROME, INCLUDED
Number Sign 145650 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION
Number Sign 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH HYPERTHYROXINEMIA, DYSPREALBUMINEMIC;; DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA;; EUTHRYROIDAL HYPERTHYROXINEMIA 2
Percent 145700 HYPERTRICHOSIS LANUGINOSA CONGENITA HYPERTRICHOSIS UNIVERSALIS
Percent 145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1 AMBRAS SYNDROME;; HYPERTRICHOSIS, CONGENITAL GENERALIZED
Number Sign 145750 HYPERTRIGLYCERIDEMIA, FAMILIAL
Percent 145800 HYPERTROPHIA MUSCULORUM VERA
Number Sign 145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS DEJERINE-SOTTAS SYNDROME; DSS;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 3; CMT3;; HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III; HMSN3;; DEJERINE-SOTTAS NEUROPATHY; DSN
Number Sign 145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 FHH1;; FAMILIAL BENIGN HYPERCALCEMIA 1; FBH1;; HYPERCALCEMIA, FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA, ACQUIRED, INCLUDED
Number Sign 145981 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2 FAMILIAL BENIGN HYPERCALCEMIA, TYPE II; FBH2;; HYPERCALCEMIA, FAMILIAL BENIGN, TYPE II
Number Sign 146000 HYPOCHONDROPLASIA; HCH
Number Sign 146110 HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7 HYPOGONADISM, ISOLATED HYPOGONADOTROPIC;; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; IHH
Caret 146150 MOVED TO 300337
NULL 146160 HYPOMELIA WITH MULLERIAN DUCT ANOMALIES LIMB-UTERUS SYNDROME
Number Sign 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT HYPOPARATHYROIDISM, AUTOSOMAL RECESSIVE, INCLUDED
Number Sign 146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME; HDRS;; BARAKAT SYNDROME;; NEPHROSIS, NERVE DEAFNESS, AND HYPOPARATHYROIDISM
Number Sign 146300 HYPOPHOSPHATASIA, ADULT HYPOPHOSPHATASIA, MILD ODONTOHYPOPHOSPHATASIA, INCLUDED
Percent 146350 HYPOPHOSPHATEMIC BONE DISEASE; HBD
Number Sign 146390 CHROMOSOME 18p DELETION SYNDROME 18p- SYNDROME
Caret 146400 MOVED TO 125400
Percent 146450 HYPOSPADIAS 3, AUTOSOMAL; HYSP3
Number Sign 146500 MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1 MSA1, SUSCEPTIBILITY TO AUTONOMIC FAILURE, PURE, INCLUDED;; HYPOTENSION, ORTHOSTATIC, INCLUDED
Number Sign 146510 PALLISTER-HALL SYNDROME; PHS HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY
Number Sign 146520 HYPOTRICHOSIS 2; HYPT2 HYPOTRICHOSIS SIMPLEX OF THE SCALP 1; HTSS1;; HTSS;; HYPOTRICHOSIS, SPANISH TYPE
Caret 146530 MOVED TO 301845
Number Sign 146550 HYPOTRICHOSIS 4; HYPT4 MARIE UNNA HEREDITARY HYPOTRICHOSIS 1; MUHH1;; HYPOTRICHOSIS, MARIE UNNA TYPE, 1
NULL 146580 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE SUPPRESSOR
Number Sign 146590 ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM
NULL 146600 ICHTHYOSIS HYSTRIX GRAVIOR ICHTHYOSIS, LAMBERT TYPE;; PORCUPINE MAN
Asterisk 146630 INTERCELLULAR ADHESION MOLECULE 2; ICAM2
Asterisk 146631 INTERCELLULAR ADHESION MOLECULE 3; ICAM3
Asterisk 146640 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 2; ITIH2
Asterisk 146650 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 3; ITIH3
Asterisk 146660 INTERLEUKIN 7; IL7
Asterisk 146661 INTERLEUKIN 7 RECEPTOR; IL7R INTERLEUKIN 7 RECEPTOR-ALPHA;; IL7R-ALPHA; IL7RA;; CD127
Asterisk 146680 INSULIN-DEGRADING ENZYME; IDE INSULYSIN;; INSULINASE
Asterisk 146690 IMP DEHYDROGENASE 1; IMPDH1 INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1;; IMPD IMP DEHYDROGENASE-LIKE 1, INCLUDED; IMPDHL1, INCLUDED
Plus 146691 IMP DEHYDROGENASE 2; IMPDH2 INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE II; IMPD2; IMPDHII IMPDH2 ENZYME ACTIVITY, VARIATION IN, INCLUDED
Caret 146692 MOVED TO 146690
Number Sign 146700 ICHTHYOSIS VULGARIS ICHTHYOSIS SIMPLEX
Asterisk 146710 INTERLEUKIN 2 RECEPTOR, BETA; IL2RB CD122 ANTIGEN; CD122
NULL 146720 ICHTHYOSIS--CHEEK--EYEBROW SYNDROME ICE SYNDROME
Asterisk 146730 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 1; IGFBP1 IBP1;; PLACENTAL PROTEIN 12;; IGF-BP25
Asterisk 146731 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 2; IGFBP2 IBP2;; IGF-BP53
Asterisk 146732 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 3; IGFBP3 IBP3
Asterisk 146733 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 4; IGFBP4 IBP4
Asterisk 146734 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 5; IGFBP5 IBP5
Asterisk 146735 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 6; IGFBP6 IBP6
Asterisk 146738 INSULIN-LIKE 3; INSL3 INSULIN-LIKE PEPTIDE, LEYDIG CELL-SPECIFIC;; RELAXIN-LIKE FACTOR; RLF
Asterisk 146740 Fc FRAGMENT OF IgG, LOW AFFINITY IIIa, RECEPTOR FOR; FCGR3A IMMUNOGLOBULIN G Fc RECEPTOR III-2;; FCRIII-2;; CD16A
NULL 146750 ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT LAMELLAR ICHTHYOSIS, AUTOSOMAL DOMINANT
Asterisk 146760 Fc FRAGMENT OF IgG, HIGH AFFINITY Ia, RECEPTOR FOR; FCGR1A IMMUNOGLOBULIN G Fc RECEPTOR I; IGFR1;; CD64
Asterisk 146770 IMMUNOGLOBULIN LAMBDA-LIKE POLYPEPTIDE 1; IGLL1 IGLL;; IMMUNOGLOBULIN OMEGA POLYPEPTIDE CHAIN; IGO;; LAMBDA-5, MOUSE, HOMOLOG OF;; IGL5, MOUSE, HOMOLOG OF
Caret 146771 MOVED TO 146770
Asterisk 146780 IMMUNOGLOBULIN KAPPA DELETING ELEMENT; IGKDEL
Asterisk 146790 Fc FRAGMENT OF IgG, LOW AFFINITY IIa, RECEPTOR FOR; FCGR2A FCG2;; IMMUNOGLOBULIN G Fc RECEPTOR II; FcGR; IGFR2;; CDw32;; CD32
Number Sign 146800 ICHTHYOSIS BULLOSA OF SIEMENS; IBS ICHTHYOSIS, BULLOUS TYPE ICHTHYOSIS EXFOLIATIVA, INCLUDED
NULL 146810 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRPHEGAL; IPHEG
NULL 146820 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT; IGAT
NULL 146830 IMMUNE DEFICIENCY, FAMILIAL VARIABLE
NULL 146840 IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION AND WITH RESPONSE TO HISTAMINE-1 ANTAGONIST
NULL 146850 IMMUNE SUPPRESSION; IS STREPTOCOCCAL CELL WALL ANTIGEN, SUPPRESSION OF IMMUNE RESPONSE TO; ISSCW;; ISCW
Asterisk 146880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-1; HLA-DQA1 HLA-DQA;; HLADC HISTOCOMPATIBILITY TYPE; HLA-DQ IMMUNE RESPONSE ANTIGENS HIa, INCLUDED;; DC1, INCLUDED
Asterisk 146900 IgA CONSTANT HEAVY CHAIN 1; IGHA1 IMMUNOGLOBULIN Am1
Asterisk 146910 IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY GENE CLUSTER; IGHD@ IGHD GENE CLUSTER; IGHD;; IGD1;; IGHDY1
Asterisk 146920 ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR ADENOSINE DEAMINASE, RNA-SPECIFIC, 1; ADAR1;; DOUBLE-STRANDED RNA-SPECIFIC ADENOSINE DEAMINASE; DSRAD; DRADA;; INTERFERON-INDUCED PROTEIN 4; IFI4;; G1P1
Asterisk 146928 CHEMOKINE, CXC MOTIF, RECEPTOR 2; CXCR2 INTERLEUKIN 8 RECEPTOR, BETA; IL8RB;; INTERLEUKIN 8 RECEPTOR, TYPE 2; IL8R2
Asterisk 146929 CHEMOKINE, CXC MOTIF, RECEPTOR 1; CXCR1 INTERLEUKIN 8 RECEPTOR, ALPHA; IL8RA;; INTERLEUKIN 8 RECEPTOR, TYPE 1; IL8R1
Asterisk 146930 INTERLEUKIN 8; IL8 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 8; SCYB8;; MONOCYTE-DERIVED NEUTROPHIL CHEMOTACTIC FACTOR;; NEUTROPHIL-ACTIVATING PEPTIDE 1; NAP1;; GRANULOCYTE CHEMOTACTIC PROTEIN 1; GCP1;; CHEMOKINE, CXC MOTIF, LIGAND 8; CXCL8
Asterisk 146931 INTERLEUKIN 9; IL9 T-CELL/MAST CELL GROWTH FACTOR P40
Caret 146932 MOVED TO 300007
Asterisk 146933 INTERLEUKIN 10 RECEPTOR, ALPHA; IL10RA INTERLEUKIN 10 RECEPTOR; IL10R;; IL10R1
Caret 146940 MOVED TO 147220
NULL 146950 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRHGAL; IHG
NULL 146960 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRTGAL; ITG
Asterisk 146970 IMMUNOGLOBULIN KAPPA LIGHT CHAIN JOINING GENE CLUSTER; IGKJ@ IGKJ GENE CLUSTER; IGKJ
Asterisk 146980 IMMUNOGLOBULIN KAPPA LIGHT CHAIN VARIABLE GENE CLUSTER; IGKV@ IGKV GENE CLUSTER; IGKV
NULL 146990 IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY REGION 2; IGHDY2 IGD2
Asterisk 147000 IgA CONSTANT HEAVY CHAIN 2; IGHA2 IMMUNOGLOBULIN Am2
Asterisk 147010 IMMUNOGLOBULIN HEAVY CHAIN JOINING GENE CLUSTER; IGHJ@ IGHJ GENE CLUSTER; IGHJ
Asterisk 147020 IMMUNOGLOBULIN HEAVY CHAIN CONSTANT REGION MU; IGHM IMMUNOGLOBULIN HEAVY CHAIN MU CONSTANT REGION;; IgM HEAVY CHAIN CONSTANT REGION
Asterisk 147040 INTERFERON-INDUCED PROTEIN WITH TETRATRICOPEPTIDE REPEATS 2; IFIT2 INTERFERON-INDUCED PROTEIN 54; IFI54;; G10P2
Asterisk 147045 Fc FRAGMENT OF IgA, RECEPTOR FOR; FCAR IMMUNOGLOBULIN A Fc RECEPTOR IG;; CD89
Number Sign 147050 IgE RESPONSIVENESS, ATOPIC; IGER IMMUNOGLOBULIN E, BASIC LEVEL OF, IN SERUM;; IgE, LEVEL OF; IGEL;; IgE RESPONSE UNDERLYING ALLERGIC ASTHMA AND RHINITIS IgE, ELEVATED LEVEL OF, INCLUDED;; ATOPY, SUSCEPTIBILITY TO, INCLUDED;; ATOPIC HYPERSENSITIVITY, INCLUDED
Number Sign 147060 HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT HYPER-IgE SYNDROME, AUTOSOMAL DOMINANT;; HIES, AUTOSOMAL DOMINANT;; JOB SYNDROME
Percent 147061 IMMUNOGLOBULIN E CONCENTRATION, SERUM; IGES
Asterisk 147070 IMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENE CLUSTER; IGHV@ IGHV GENE CLUSTER; IGHV
NULL 147080 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGLPHE 1; IGLP1
NULL 147090 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGLPHE 2; IGLP2
Asterisk 147100 IgG HEAVY CHAIN LOCUS; IGHG1 IMMUNOGLOBULIN Gm1 IGHG1/CCND1 FUSION GENE, INCLUDED;; IGHG1/LHX4 FUSION GENE, INCLUDED
Asterisk 147110 IMMUNOGLOBULIN HEAVY CHAIN CONSTANT REGION GAMMA-2; IGHG2 IMMUNOGLOBULIN HEAVY CHAIN GAMMA-2 CONSTANT REGION;; IgG2 HEAVY CHAIN CONSTANT REGION;; IMMUNOGLOBULIN Gm2
Asterisk 147120 IMMUNOGLOBULIN Gm3; IGHG3
Asterisk 147130 IMMUNOGLOBULIN Gm4; IGHG4
Asterisk 147138 MEMBRANE-SPANNING 4 DOMAINS, SUBFAMILY A, MEMBER 2; MS4A2 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, BETA SUBUNIT; FCER1B;; IMMUNOGLOBULIN E RECEPTOR, HIGH AFFINITY, BETA POLYPEPTIDE;; Fc IgE RECEPTOR, BETA CHAIN;; IMMUNOGLOBULIN E REGULATOR; IGHER; IGER
Asterisk 147139 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, GAMMA SUBUNIT; FCER1G IMMUNOGLOBULIN E RECEPTOR, HIGH AFFINITY, OF MAST CELLS, GAMMA POLYPEPTIDE;; Fc IgE RECEPTOR, GAMMA CHAIN; FCRG;; Fc RECEPTOR, COMMON GAMMA CHAIN
Asterisk 147140 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, ALPHA SUBUNIT; FCER1A IMMUNOGLOBULIN E RECEPTOR, HIGH AFFINITY, OF MAST CELLS, ALPHA POLYPEPTIDE;; Fc IgE RECEPTOR, ALPHA CHAIN
Asterisk 147141 TRANSCRIPTION FACTOR 3; TCF3 IMMUNOGLOBULIN ENHANCER-BINDING FACTORS E12/E47; E2A;; IMMUNOGLOBULIN TRANSCRIPTION FACTOR 1; ITF1;; VITAMIN D RECEPTOR-INTERACTING REPRESSOR; VDIR;; NEGATIVE VITAMIN D RESPONSE ELEMENT-BINDING PROTEIN E2A/HLF FUSION GENE, INCLUDED;; E2A/PBX1 FUSION GENE, INCLUDED;; E2A/TFPT FUSION GENE, INCLUDED
Asterisk 147150 MYXOVIRUS RESISTANCE 1, MOUSE, HOMOLOG OF; MX1 INTERFERON-INDUCIBLE PROTEIN p78; IFI78;; MxA
Caret 147160 MOVED TO 147180
Asterisk 147170 IMMUNOGLOBULIN: HEAVY DELTA CHAIN; IGHD
Asterisk 147180 IMMUNOGLOBULIN: HEAVY EPSILON CHAIN; IGHE IMMUNOGLOBULIN EPSILON; IgE IMMUNOGLOBULIN: HEAVY EPSILON CHAIN PSEUDOGENE 1, INCLUDED; IGHEP1, INCLUDED;; IMMUNOGLOBULIN: HEAVY EPSILON CHAIN PSEUDOGENE 2, INCLUDED; IGHEP2, INCLUDED;; V(KAPPA) PSEUDOGENES, INCLUDED
Asterisk 147183 RECOMBINATION SIGNAL-BINDING PROTEIN FOR IMMUNOGLOBULIN KAPPA J REGION; RBPJ RECOMBINATION SIGNAL-BINDING PROTEIN SUPPRESSOR OF HAIRLESS, DROSOPHILA, HOMOLOG OF; RBPSUH;; IMMUNOGLOBULIN KAPPA J REGION RECOMBINATION SIGNAL-BINDING PROTEIN 1; IGKJRB1;; RECOMBINATION SIGNAL-BINDING PROTEIN 1 FOR J-KAPPA; RBPJK; RBPJ;; C PROMOTER-BINDING FACTOR 1; CBF1
Asterisk 147185 IMMUNOGLOBULIN KAPPA VARIABLE 1/OR2-108; IGKV1OR2108 IMMUNOGLOBULIN KAPPA ORPHON 1; IGO1;; IMMUNOGLOBULIN TRANSPOSED ELEMENT 1
Asterisk 147200 IMMUNOGLOBULIN KAPPA LIGHT CHAIN CONSTANT REGION; IGKC IMMUNOGLOBULIN KM;; IMMUNOGLOBULIN InV
Caret 147210 MOVED TO 147180
Asterisk 147220 IMMUNOGLOBULIN LAMBDA CONSTANT REGION 1; IGLC1 IGLC;; IMMUNOGLOBULIN: LAMBDA LIGHT CHAIN
Asterisk 147230 IMMUNOGLOBULIN LAMBDA LIGHT CHAIN JOINING GENE CLUSTER; IGLJ@ IGLJ GENE CLUSTER; IGLJ
Asterisk 147240 IMMUNOGLOBULIN LAMBDA LIGHT CHAIN VARIABLE GENE CLUSTER; IGLV@ IGLV GENE CLUSTER; IGLV
Asterisk 147245 CD79B ANTIGEN; CD79B IMMUNOGLOBULIN-ASSOCIATED BETA; IGB;; IMMUNOGLOBULIN-ASSOCIATED B29 PROTEIN; B29
Number Sign 147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI INCISORS, FUSED;; FUSED INCISORS;; SINGLE UPPER CENTRAL INCISOR;; SINGLE CENTRAL MAXILLARY INCISOR SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME, INCLUDED;; SMMCI SYNDROME, INCLUDED
NULL 147251 INCISORS, FUSED MANDIBULAR 'DOUBLE TOOTH'
NULL 147260 IMMUNOGLOBULIN SWITCH SEQUENCES S SEQUENCES IMMUNOGLOBULIN-INDEPENDENT SWITCH SEQUENCES, INCLUDED
Asterisk 147263 INOSITOL POLYPHOSPHATE-1-PHOSPHATASE; INPP1
Asterisk 147264 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 75-KD; INPP5B
Asterisk 147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1 IP3R;; IP3R1
Asterisk 147267 INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR, TYPE 3; ITPR3 IP3R3
Asterisk 147270 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1; ITIH1 IATIH;; ITIH
Asterisk 147280 INSULIN-LIKE GROWTH FACTOR II RECEPTOR; IGF2R MANNOSE 6-PHOSPHATE RECEPTOR, CATION-INDEPENDENT; MPRI;; CIMPR
Asterisk 147290 INHIBIN, BETA A; INHBA INHIBIN, BETA-1;; FOLLICLE-STIMULATING HORMONE-RELEASING PROTEIN; FRP;; FSH-RELEASING PROTEIN;; FSH-RELEASING FACTOR;; ERYTHROID DIFFERENTIATION FACTOR; EDF ACTIVIN A, INCLUDED;; ACTIVIN A-B, INCLUDED;; ACTIVIN BETA-A, INCLUDED
NULL 147300 INCISORS, LONG UPPER CENTRAL
Asterisk 147310 CHEMOKINE, CXC MOTIF, LIGAND 10; CXCL10 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 10; SCYB10;; INTERFERON-GAMMA-INDUCIBLE PROTEIN 10; IP10; INP10;; INTERFERON-GAMMA-INDUCED FACTOR;; MOB1, MOUSE, HOMOLOG OF
NULL 147320 INSULIN RECEPTORS, FAMILIAL INCREASE IN
NULL 147330 INCISORS, LOWER CENTRAL, ABSENCE OF
NULL 147350 INCISORS, ROTATION OF UPPER CENTRAL
Asterisk 147360 INVOLUCRIN; IVL
Asterisk 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R
Asterisk 147380 INHIBIN, ALPHA; INHA
Asterisk 147390 INHIBIN, BETA B; INHBB INHIBIN, BETA-2 ACTIVIN BETA-B, INCLUDED;; ACTIVIN B, INCLUDED
Percent 147400 INCISORS, SHOVEL-SHAPED SINODONTY
Caret 147410 REMOVED FROM DATABASE
Caret 147420 MOVED TO 601419
Percent 147421 INCLUSION BODY MYOSITIS IBM
Number Sign 147430 MARSILI SYNDROME; MARSIS INSENSITIVITY TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT;; CONGENITAL ANALGESIA, AUTOSOMAL DOMINANT
Asterisk 147435 INDOLEAMINE 2,3-DIOXYGENASE; IDO1 INDO;; IDO
Asterisk 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1 IGF I;; SOMATOMEDIN C
Asterisk 147450 SUPEROXIDE DISMUTASE 1; SOD1 SUPEROXIDE DISMUTASE, CYTOSOLIC;; SUPEROXIDE DISMUTASE, SOLUBLE;; SOD, SOLUBLE;; SUPEROXIDE DISMUTASE, COPPER-ZINC;; INDOPHENOL OXIDASE A; IPOA
Asterisk 147460 SUPEROXIDE DISMUTASE 2; SOD2 SUPEROXIDE DISMUTASE, MITOCHONDRIAL;; INDOPHENOL OXIDASE B; IPO-B;; MANGANESE SUPEROXIDE DISMUTASE; MNSOD
Asterisk 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2 SOMATOMEDIN A
Number Sign 147480 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1 CHOLESTASIS, PREGNANCY-RELATED, 1
Asterisk 147485 INTRACISTERNAL A PARTICLE-PROMOTED POLYPEPTIDE; IPP
Caret 147490 REMOVED FROM DATABASE
Asterisk 147510 INSULIN-RELATED DNA POLYMORPHISM; IRDN INSULIN-LINKED POLYMORPHIC REGION; ILPR;; INSULIN MINISATELLITE;; INS VNTR;; INSULIN-RELATED VNTR
Asterisk 147520 INOSINE TRIPHOSPHATASE; ITPA INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE
Asterisk 147521 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE A; ITPKA
Asterisk 147522 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE B; ITPKB
NULL 147530 INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY
NULL 147540 INSECT STINGS, HYPERSENSITIVITY TO
Plus 147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1 CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED
Asterisk 147553 INTERFERON, OMEGA-1; IFNW1 IFN-ALPHA-LIKE INTERFERON, OMEGA-2, PSEUDOGENE, INCLUDED; IFNWP2, INCLUDED
Caret 147554 MOVED TO 147553
Asterisk 147556 INTEGRIN, ALPHA-6; ITGA6 CD49F
Asterisk 147557 INTEGRIN, BETA-4; ITGB4
Asterisk 147558 INTEGRIN, BETA-6; ITGB6
Asterisk 147559 INTEGRIN, BETA-7; ITGB7
NULL 147560 INTERFERON ANTIVIRAL DEPRESSOR
Asterisk 147561 INTEGRIN, BETA-5; ITGB5
Asterisk 147562 INTERFERON, ALPHA-2; IFNA2
Asterisk 147563 INTEGRIN-BINDING SIALOPROTEIN; IBSP BONE SIALOPROTEIN II;; BONE SIALOPROTEIN; BSP;; SIALOPROTEIN, BONE
Asterisk 147564 INTERFERON, ALPHA-4; IFNA4
Asterisk 147565 INTERFERON, ALPHA-5; IFNA5
Asterisk 147566 INTERFERON, ALPHA-6; IFNA6
Asterisk 147567 INTERFERON, ALPHA-7; IFNA7
Asterisk 147568 INTERFERON, ALPHA-8; IFNA8
Asterisk 147569 INTERFERON-GAMMA RECEPTOR 2; IFNGR2 IFGR2;; INTERFERON-GAMMA TRANSDUCER 1; IFNGT1;; INTERFERON-GAMMA RECEPTOR, ACCESSORY FACTOR FOR
Asterisk 147570 INTERFERON, GAMMA; IFNG IFG;; IFN, IMMUNE; IFI
Asterisk 147571 UBIQUITIN-LIKE MODIFIER ISG15; ISG15 INTERFERON-INDUCED PROTEIN IFI-15K; G1P2;; INTERFERON-INDUCED PROTEIN 15; IFI15
Asterisk 147572 INTERFERON-ALPHA-INDUCIBLE PROTEIN 6; IFI6 INTERFERON-INDUCED PROTEIN IFI-6-16; IFI616;; G1P3
Asterisk 147573 INTERFERON PRODUCTION REGULATOR; IFNR INTERFERON-GAMMA-RESPONSIVE INDUCER OF CLASS II MHC ANTIGENS; IFNGM; IFNGM2
Asterisk 147574 INTERFERON-STIMULATED TRANSCRIPTION FACTOR 3, GAMMA; ISGF3G ISGF3-GAMMA;; p48;; INTERFERON REGULATORY FACTOR 9; IRF9 INTERFERON-STIMULATED GENE FACTOR 3, INCLUDED; ISGF3, INCLUDED
Asterisk 147575 INTERFERON REGULATORY FACTOR 1; IRF1
Asterisk 147576 INTERFERON REGULATORY FACTOR 2; IRF2
Asterisk 147577 INTERFERON, ALPHA-10; IFNA10
Asterisk 147578 INTERFERON, ALPHA-13; IFNA13
Asterisk 147579 INTERFERON, ALPHA-14; IFNA14 LEUKOCYTE INTERFERON 2H; LEIF2H
Asterisk 147580 INTERFERON, ALPHA-16; IFNA16
Caret 147581 MOVED TO 100880
Asterisk 147582 IRON-RESPONSIVE ELEMENT-BINDING PROTEIN 2; IREB2 IRE-BINDING PROTEIN 2; IRP2
Asterisk 147583 INTERFERON, ALPHA-17; IFNA17 INTERFERON A; INFA;; LEUKOCYTE INTERFERON 2C1; LEIF2C1
Asterisk 147584 INTERFERON, ALPHA-21; IFNA21
Caret 147585 MOVED TO 147660
Asterisk 147586 INTERFERON-GAMMA-INDUCIBLE PROTEIN 16; IFI16
Caret 147590 MOVED TO 109120
NULL 147610 IRIS PIGMENT LAYER, CLEAVAGE OF
Asterisk 147620 INTERLEUKIN 6; IL6 INTERFERON, BETA-2; IFNB2;; B-CELL DIFFERENTIATION FACTOR;; B-CELL STIMULATORY FACTOR 2; BSF2;; HEPATOCYTE STIMULATORY FACTOR; HSF;; HYBRIDOMA GROWTH FACTOR; HGF
Asterisk 147625 ISLET CELL AUTOANTIGEN 1; ICA1 ISLET CELL AUTOANTIGEN, 69-KD; ICA69
Number Sign 147630 INSULINOMATOSIS AND DIABETES MELLITUS; INSDM ISLET CELL ADENOMATOSIS
Asterisk 147640 INTERFERON, BETA-1; IFNB1 INTERFERON, FIBROBLAST; IFF;; IFN, FIBROBLAST;; BETA-INTERFERON; IFB; IFNB
Asterisk 147650 ISOCITRATE DEHYDROGENASE 2; IDH2 ISOCITRATE DEHYDROGENASE, NADP(+)-SPECIFIC, MITOCHONDRIAL; IDPM
Asterisk 147660 INTERFERON, ALPHA-1; IFNA1 INTERFERON, LEUKOCYTIC;; ALPHA-INTERFERON; IFN; IFNA;; IFN-ALPHA;; IFN, LEUKOCYTE; IFL INTERFERON, ALPHA, PSEUDOGENE 22, INCLUDED; IFNAP22, INCLUDED
Asterisk 147670 INSULIN RECEPTOR; INSR
Asterisk 147671 INSULIN RECEPTOR-RELATED RECEPTOR; INSRR IRR
Asterisk 147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1 INTERLEUKIN 1-BETA CONVERTASE; IL1BC;; IL1B-CONVERTASE;; IL1B-CONVERTING ENZYME; ICE
Asterisk 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN IL1RA
Asterisk 147680 INTERLEUKIN 2; IL2 T-CELL GROWTH FACTOR; TCGF
Asterisk 147681 INTERLEUKIN 11; IL11
Asterisk 147683 INTERLEUKIN 13; IL13
Caret 147684 REMOVED FROM DATABASE
Asterisk 147685 FORKHEAD BOX K2; FOXK2 INTERLEUKIN ENHANCER-BINDING FACTOR 1; ILF1;; ILF
Caret 147686 MOVED TO 300119
Asterisk 147690 INTERFERON-INDUCED PROTEIN WITH TETRATRICOPEPTIDE REPEATS 1; IFIT1 INTERFERON-INDUCED PROTEIN 56; IFI56;; INTERFERON-INDUCED PROTEIN IFI-56K; G10P1;; INTERFERON-INDUCIBLE mRNA 561; RNM561;; ISG56;; C56
Asterisk 147700 ISOCITRATE DEHYDROGENASE 1; IDH1 ISOCITRATE DEHYDROGENASE, NADP(+)-SPECIFIC, SOLUBLE;; PEROXISOMAL ISOCITRATE DEHYDROGENASE; PICD;; ISOCITRATE DEHYDROGENASE, NADP(+)-DEPENDENT, CYTOSOLIC; IDPC; ICDC
NULL 147710 INTUSSUSCEPTION
Asterisk 147720 INTERLEUKIN 1-BETA; IL1B IL1-BETA
Asterisk 147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA IL2 RECEPTOR; IL2R;; IL2R, ALPHA CHAIN;; T-CELL GROWTH FACTOR RECEPTOR; TCGFR;; TAC ANTIGEN;; CD25
Asterisk 147740 INTERLEUKIN 3; IL3 MULTI-CSF
Number Sign 147750 IVIC SYNDROME RADIAL RAY DEFECTS, HEARING IMPAIRMENT, EXTERNAL OPHTHALMOPLEGIA, AND THROMBOCYTOPENIA;; OCULOOTORADIAL SYNDROME; OORS
Asterisk 147760 INTERLEUKIN 1-ALPHA; IL1A IL1-ALPHA
Percent 147770 JOHNSON NEUROECTODERMAL SYNDROME JOHNSON-MCMILLIN SYNDROME; JMS;; ALOPECIA-ANOSMIA-DEAFNESS-HYPOGONADISM SYNDROME;; AADH SYNDROME
Asterisk 147780 INTERLEUKIN 4; IL4 B-CELL STIMULATORY FACTOR 1; BSF1
Asterisk 147781 INTERLEUKIN 4 RECEPTOR; IL4R INTERLEUKIN 4 RECEPTOR, ALPHA; IL4RA
Asterisk 147790 IMMUNOGLOBULIN J POLYPEPTIDE, LINKER PROTEIN FOR IMMUNOGLOBULIN ALPHA AND MU POLYPEPTIDES; IGJ IGCJ;; J CHAIN; JCH
Number Sign 147791 JACOBSEN SYNDROME; JBS CHROMOSOME 11q DELETION SYNDROME;; PARTIAL 11q MONOSOMY SYNDROME
Asterisk 147795 JANUS KINASE 1; JAK1
Asterisk 147796 JANUS KINASE 2; JAK2 JAK2/ETV6 FUSION GENE, INCLUDED
Percent 147800 AASE-SMITH SYNDROME I AASE-SMITH SYNDROME;; JOINT CONTRACTURES WITH OTHER ABNORMALITIES
Asterisk 147810 INTERLEUKIN 1 RECEPTOR, TYPE I; IL1R1 INTERLEUKIN 1 RECEPTOR, ALPHA, TYPE I; IL1RA;; INTERLEUKIN 1 RECEPTOR; IL1R
Asterisk 147811 INTERLEUKIN 1 RECEPTOR, TYPE II; IL1R2 INTERLEUKIN 1 RECEPTOR, BETA, TYPE II; IL1RB
NULL 147820 INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF
Asterisk 147830 T-CELL TUMOR INVASION AND METASTASIS 1; TTIM1 INVASION AND METASTASIS FACTORS ON CHROMOSOME 7; INM7;; INVASION-INDUCING LOCUS
Asterisk 147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1 CD54;; SURFACE ANTIGEN OF ACTIVATED B CELLS, BB2; BB2;; ANTIGEN IDENTIFIED BY MONOCLONAL ANTIBODY BB2
Asterisk 147850 INTERLEUKIN 5; IL5 EOSINOPHIL DIFFERENTIATION FACTOR; EDF
Asterisk 147851 INTERLEUKIN 5 RECEPTOR, ALPHA; IL5RA IL5R
NULL 147860 INTERFERON, BETA-3; IFNB3
Asterisk 147870 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2; WNT2 ONCOGENE INT1-LIKE 1; INT1L1;; INT1-RELATED PROTEIN; IRP
Asterisk 147880 INTERLEUKIN 6 RECEPTOR; IL6R INTERLEUKIN 6 RECEPTOR, ALPHA; IL6RA;; CD126
Asterisk 147890 MYXOVIRUS RESISTANCE 2, MOUSE, HOMOLOG OF; MX2 INTERFERON-INDUCIBLE PROTEIN p78, SECOND LOCUS;; MxB
Number Sign 147891 ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS SMALL PATELLA SYNDROME; SPS;; PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS;; ISCHIOPATELLAR DYSPLASIA;; COXOPODOPATELLAR SYNDROME;; SCOTT-TAOR SYNDROME
Plus 147892 DEIODINASE, IODOTHYRONINE, TYPE I; DIO1 THYROXINE DEIODINASE, TYPE I; TXDI1 HYPERTHYROXINEMIA DUE TO DECREASED PERIPHERAL CONVERSION OF T4, INCLUDED;; 5-PRIME-DEIODINASE DEFICIENCY, GENERALIZED, CAUSING EUTHYROID HYPERTHYROXINEMIA, INCLUDED
Percent 147900 JOINT LAXITY, FAMILIAL FAMILIAL JOINT INSTABILITY SYNDROME;; ARTICULAR HYPERMOBILITY SYNDROME;; EHLERS-DANLOS SYNDROME, TYPE XI, FORMERLY;; EDS XI, FORMERLY;; EDS11, FORMERLY
Asterisk 147910 KALLIKREIN 1; KLK1 KALLIKREIN, RENAL/PANCREATIC/SALIVARY; KLKR;; KALLIKREIN, TISSUE
Number Sign 147920 KABUKI SYNDROME 1; KABUK1 KABUKI SYNDROME;; KABUKI MAKE-UP SYNDROME; KMS;; NIIKAWA-KUROKI SYNDROME
Asterisk 147935 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 4; SERPINA4 KALLISTATIN; KST;; TISSUE KALLIKREIN INHIBITOR;; PROTEASE INHIBITOR 4; PI4
Asterisk 147940 ISLET AMYLOID POLYPEPTIDE; IAPP IAP;; AMYLIN;; DIABETES-ASSOCIATED PEPTIDE; DAP
Number Sign 147950 HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 KALLMANN SYNDROME 2; KAL2
Asterisk 147960 KALLIKREIN-RELATED PEPTIDASE 2; KLK2 KALLIKREIN 2;; KALLIKREIN, GLANDULAR;; KALLIKREIN, PROSTATIC
Number Sign 148000 KAPOSI SARCOMA, SUSCEPTIBILITY TO MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA, SUSCEPTIBILITY TO MULTICENTRIC CASTLEMAN DISEASE, SUSCEPTIBILITY TO, INCLUDED; MCD, INCLUDED
Asterisk 148020 KERATIN 19; KRT19 K19;; KERATIN, TYPE I, 40-KD
Asterisk 148021 KERATIN ASSOCIATED PROTEIN 5-9; KRTAP5-9 KERATIN, CUTICLE, ULTRAHIGH-SULFUR, 1; KRN1
Asterisk 148022 KERATIN-ASSOCIATED PROTEIN 5-1; KRTAP5-1 KERATIN, CUTICLE, ULTRAHIGH-SULFUR, 1-LIKE; KRN1L
Asterisk 148030 KERATIN 15, TYPE I; KRT15 K15;; KA15;; CYTOKERATIN 15
Asterisk 148040 KERATIN 5, TYPE II; KRT5 K5;; KB5
Asterisk 148041 KERATIN 6A, TYPE II; KRT6A KERATIN, EPIDERMAL TYPE II, K6A; K6A;; KB6
Asterisk 148042 KERATIN 6B, TYPE II; KRT6B KERATIN, EPIDERMAL TYPE II, K6B; K6B;; CYTOKERATIN 6B; CK6B;; KB10
Asterisk 148043 KERATIN 3, TYPE II; KRT3 K3;; KB3;; CYTOKERATIN 3; CK3
Number Sign 148050 KBG SYNDROME; KBGS MACRODONTIA, MENTAL RETARDATION, CHARACTERISTIC FACIES, SHORT STATURE, AND SKELETAL ANOMALIES
Asterisk 148059 KERATIN 7, TYPE II; KRT7 K7;; KB7;; KERATIN, SIMPLE EPITHELIAL;; KERATIN, TYPE II, CYTOSKELETAL, 7; K2C7;; SARCOLECTIN; SCL
Asterisk 148060 KERATIN 8, TYPE II; KRT8 K8;; KB8 CYTOKERATIN 8; CK8; CYK8
Asterisk 148065 KERATIN 13, TYPE I; KRT13 K13;; KA13;; CYTOKERATIN 13; CK13
Asterisk 148066 KERATIN 14, TYPE I; KRT14 K14;; KA14
Asterisk 148067 KERATIN 16, TYPE I; KRT16 K16;; KA16
Asterisk 148069 KERATIN 17, TYPE I; KRT17 K17;; KA17;; CYTOKERATIN 17; CK17
Asterisk 148070 KERATIN 18, TYPE I; KRT18 K18;; KA18;; CYTOKERATIN 18; CYK18; CK18
Asterisk 148080 KERATIN 10, TYPE I; KRT10 K10;; KA10
Percent 148100 KELOID FORMATION
Asterisk 148180 FIBROBLAST GROWTH FACTOR 7; FGF7 KERATINOCYTE GROWTH FACTOR; KGF
Caret 148181 MOVED TO 176943
Number Sign 148190 KERATITIS, HEREDITARY
Number Sign 148200 KERATOENDOTHELIITIS FUGAX HEREDITARIA; KEFH KERATITIS FUGAX HEREDITARIA
Number Sign 148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT KID SYNDROME, AUTOSOMAL DOMINANT
Number Sign 148300 KERATOCONUS 1; KTCN1
Number Sign 148350 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
NULL 148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY AXONAL NEUROPATHY WITH PALMOPLANTAR KERATODERMA;; CHARCOT-MARIE-TOOTH DISEASE WITH PALMOPLANTAR KERATODERMA AND NAIL DYSTROPHY
Percent 148370 KERATOLYTIC WINTER ERYTHEMA; KWE OUDTSHOORN SKIN DISEASE
NULL 148390 KERATOSIS, FAMILIAL ACTINIC
Number Sign 148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER;; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
NULL 148520 KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY
Number Sign 148600 PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA; PPKP1A PALMOPLANTAR KERATODERMA, PUNCTATE TYPE I; PPKP1;; KPPP1;; KERATODERMIA PALMOPLANTARIS PAPULOSA, BUSCHKE-FISCHER-BRAUER TYPE;; KERATOSIS PALMOPLANTARIS PAPULOSA
Number Sign 148700 PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1 KERATOSIS PALMOPLANTARIS STRIATA I;; STRIATE PALMOPLANTAR KERATODERMA I; SPPK1;; KERATODERMA, PALMOPLANTAR, STRIATE FORM I; KPPS1
Percent 148730 KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL FOCAL PALMOPLANTAR AND GINGIVAL HYPERKERATOSIS SYNDROME
Asterisk 148750 KINASE-LIKE PROTEIN G7P1; G7P1
Asterisk 148760 KINESIN FAMILY MEMBER 11; KIF11 KINESIN-LIKE 1; KNSL1;; KINESIN, HEAVY CHAIN;; EG5, XENOPUS, HOMOLOG OF; EG5;; THYROID HORMONE RECEPTOR-INTERACTING PROTEIN 5; TRIP5
NULL 148800 KLEEBLATTSCHAEDEL CLOVERLEAF SKULL;; KLEEBLATTSCHADEL
Number Sign 148820 WAARDENBURG SYNDROME, TYPE 3; WS3 WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES;; WAARDENBURG SYNDROME, TYPE III;; KLEIN-WAARDENBURG SYNDROME
Percent 148840 KLEINE-LEVIN HIBERNATION SYNDROME KLEINE-LEVIN SYNDROME
Caret 148860 MOVED TO 601076
Caret 148870 MOVED TO 118100
Caret 148900 MOVED TO 118100
Percent 149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME KTW SYNDROME;; KLIPPEL-TRENAUNAY SYNDROME; KTS;; ANGIOOSTEOHYPERTROPHY SYNDROME
Number Sign 149100 KNUCKLE PADS
Number Sign 149200 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS BART-PUMPHREY SYNDROME
Percent 149300 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 2; NDNC2 KOILONYCHIA, HEREDITARY;; SPOON NAILS KOILONYCHIA WITH LEUKONYCHIA, INCLUDED
Number Sign 149400 HYPEREKPLEXIA, HEREDITARY 1; HKPX1 STARTLE DISEASE, FAMILIAL;; STARTLE REACTION, EXAGGERATED;; EXAGGERATED STARTLE REACTION;; STHE;; STIFF-BABY SYNDROME;; STIFF-MAN SYNDROME, CONGENITAL;; STIFF-PERSON SYNDROME, CONGENITAL;; KOK DISEASE
NULL 149500 KYRLE DISEASE
NULL 149600 LABIA MINORA, INCOMPLETE ADHESION OF
Number Sign 149700 LACRIMAL DUCT DEFECT; LCDD NASOLACRIMAL DUCT OBSTRUCTION;; LACRIMAL PUNCTA, ABSENCE OF
Number Sign 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD LEVY-HOLLISTER SYNDROME
Asterisk 149750 LACTALBUMIN, ALPHA; LALBA
Asterisk 150000 LACTATE DEHYDROGENASE A; LDHA LDH, SUBUNIT M
Asterisk 150100 LACTATE DEHYDROGENASE B; LDHB LDH, SUBUNIT H
Asterisk 150150 LACTATE DEHYDROGENASE C; LDHC LDH, TESTICULAR FORM; LDHX
Caret 150160 MOVED TO 150000
NULL 150170 LACTIC ACIDOSIS, CHRONIC ADULT FORM
Asterisk 150200 CHORIONIC SOMATOMAMMOTROPIN HORMONE 1; CSH1 CHORIONIC SOMATOMAMMOTROPIN A; CSA; CSMT;; LACTOGEN, PLACENTAL; PL
Asterisk 150205 LACTOPEROXIDASE; LPO
Asterisk 150210 LACTOTRANSFERRIN; LTF LACTOFERRIN; LF
Caret 150220 MOVED TO 223000
Number Sign 150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 LANGER-GIEDION SYNDROME; LGS;; CHROMOSOME 8q24.1 DELETION SYNDROME
Asterisk 150240 LAMININ, BETA-1; LAMB1
Number Sign 150250 LARSEN SYNDROME; LRS
Percent 150260 LARYNGEAL ABDUCTOR PARALYSIS LABD;; GERHARDT SYNDROME;; VOCAL CORD DYSFUNCTION, FAMILIAL
Percent 150270 LARYNGEAL ADDUCTOR PARALYSIS; LAP VOCAL CORD DYSFUNCTION, ADDUCTOR TYPE
NULL 150280 LARYNGOMALACIA
Asterisk 150290 LAMININ, GAMMA-1; LAMC1 LAMININ B2, FORMERLY; LAMB2, FORMERLY
Asterisk 150292 LAMININ, GAMMA-2; LAMC2 LAMININ B2 POLYPEPTIDE, TRUNCATED;; LAMB2, TRUNCATED; LAMB2T;; KALININ;; LAMININ, NICEIN, BETA-2; LAMNB2;; LAMININ 5, GAMMA-2 SUBUNIT;; LAM5, GAMMA-2 SUBUNIT
NULL 150300 LARYNX, CONGENITAL PARTIAL ATRESIA OF
Asterisk 150310 LAMININ, BETA-3; LAMB3 LAMININ B3;; LAMININ 5, BETA-3 SUBUNIT;; LAM5, BETA-3 SUBUNIT
Asterisk 150320 LAMININ, ALPHA-1; LAMA1 LAMININ A; LAMA
Asterisk 150325 LAMININ, BETA-2; LAMB2 LAMININ S; LAMS
Asterisk 150330 LAMIN A/C; LMNA LAMIN A, INCLUDED;; LAMIN C, INCLUDED; LMNC, INCLUDED;; PRELAMIN A, INCLUDED;; PROGERIN, INCLUDED
Asterisk 150340 LAMIN B1; LMNB1 LMNB
Asterisk 150341 LAMIN B2; LMNB2
NULL 150360 LARYNGEAL WEB, FAMILIAL GLOTTIC WEB, CONGENITAL ANTERIOR;; SUBGLOTTIC WEB;; SUBGLOTTIC BAR
Asterisk 150370 RIBOSOMAL PROTEIN SA; RPSA LAMININ RECEPTOR 1; LAMR1;; LAMBR;; LAMININ RECEPTOR, 67-KD; 67LR
Asterisk 150390 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 1; LTBP1
Number Sign 150400 TOOTH AGENESIS, SELECTIVE, 4; STHAG4 TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA;; LATERAL INCISORS, ABSENCE OF;; LATERAL INCISORS, PEGGED OR MISSING;; SUCCEDANEOUS TEETH, AGENESIS OF
NULL 150500 LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT
NULL 150550 LAZY LEUKOCYTE SYNDROME
Asterisk 150570 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 1; LGALS1 GALECTIN 1; GAL1
Asterisk 150571 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 2; LGALS2 GALECTIN 2
NULL 150590 LEG ULCERS, FAMILIAL, OF JUVENILE ONSET
Number Sign 150600 LEGG-CALVE-PERTHES DISEASE; LCPD LCP;; LEGG-PERTHES DISEASE;; PERTHES DISEASE
Number Sign 150699 LEIOMYOMA, UTERINE; UL
NULL 150700 LEIOMYOMA OF VULVA AND ESOPHAGUS LEIOMYOMATOSIS, ESOPHAGOGASTRIC AND VULVAR
Number Sign 150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA; MCUL1;; LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;; LEIOMYOMA, MULTIPLE CUTANEOUS; MCL
NULL 150900 LENTIGINES
NULL 151000 LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC LENTIGINOSIS, TOURAINE TYPE
Percent 151001 LENTIGINOSIS, INHERITED PATTERNED LENTIGINOSIS, GENERALIZED;; LENTIGINOSIS PROFUSA;; LENTIGINOSIS, DIFFUSE
Asterisk 151020 LENTIL AGGLUTININ BINDING LCH RECEPTOR
Number Sign 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD LENZ-MAJEWSKI SYNDROME
Number Sign 151100 LEOPARD SYNDROME 1; LPRD1 LENTIGINOSIS, CARDIOMYOPATHIC;; MULTIPLE LENTIGINES SYNDROME
Number Sign 151200 CHROMOSOME 8q22.1 DUPLICATION SYNDROME LERI PLEONOSTEOSIS
Number Sign 151210 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, TORRANCE TYPE;; THANATOPHORIC DYSPLASIA, TORRANCE VARIANT PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE, INCLUDED; PLSDL, INCLUDED;; THANATOPHORIC DYSPLASIA, LUTON VARIANT, INCLUDED
Asterisk 151250 LETHAL ANTIGEN--A1; AL-A1 SPECIES ANTIGEN 11-1; SA11-1; S1; MER1 E7-ASSOCIATED CELL-SURFACE ANTIGEN, INCLUDED
Asterisk 151290 BETA-1,3-GLUCURONYLTRANSFERASE 1; B3GAT1 GLUCURONOSYLTRANSFERASE P; GLCATP
Asterisk 151300 LEUCYL-CYSTINYL AMINOPEPTIDASE; LNPEP LEUCINE AMINOPEPTIDASE OF PLACENTA;; OXYTOCINASE;; INSULIN-RESPONSIVE AMINOPEPTIDASE, MOUSE, HOMOLOG OF; IRAP
Asterisk 151310 LEUCINE TRANSPORT, HIGH; LEUT HIGH L-LEUCINE TRANSPORT; HTL
Asterisk 151350 LEUCYL-tRNA SYNTHETASE; LARS LRS;; LARS1;; LEUS;; RNTLS
NULL 151380 LEUKEMIA, ACUTE MONOCYTIC
Asterisk 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1 ACUTE MYELOID LEUKEMIA 1 GENE; AML1;; CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2; CBFA2;; PEBP2-ALPHA-B; PEBP2AB AML1/TEL FUSION GENE, INCLUDED;; AML1/MDS1 FUSION GENE, INCLUDED;; AML1/ETO FUSION GENE, INCLUDED;; AML1/MDS1/EAI1 FUSION GENE, INCLUDED; AME, INCLUDED;; AML1/FOG2 FUSION GENE, INCLUDED;; RUNX1/YTHDF2 FUSION GENE, INCLUDED;; RUNX1/SH3D19 FUSION GENE, INCLUDED;; RUNX1/ZNF687 FUSION GENE, INCLUDED
Caret 151390 MOVED TO 180385
Number Sign 151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL LEUKEMIA, CHRONIC LYMPHATIC
Asterisk 151410 BREAKPOINT CLUSTER REGION; BCR BCR1 BCR/ABL FUSION GENE, INCLUDED;; BCR/FGFR1 FUSION GENE, INCLUDED;; BCR/PDGFRA FUSION GENE, INCLUDED
Plus 151430 B-CELL CLL/LYMPHOMA 2; BCL2 ONCOGENE B-CELL LEUKEMIA 2 LEUKEMIA/LYMPHOMA, B-CELL, 2, INCLUDED
Asterisk 151440 LYMPHOBLASTIC LEUKEMIA-DERIVED SEQUENCE 1; LYL1
Asterisk 151441 LEUKEMIA/LYMPHOMA, CHRONIC B-CELL, 5; BCL5 B-CELL LEUKEMIA/LYMPHOMA 5;; BCL3, FORMERLY
Asterisk 151442 STATHMIN 1; STMN1 STATHMIN; SMN;; LEUKEMIA-ASSOCIATED PHOSPHOPROTEIN p18; LAP18;; METABLASTIN;; OP18
Asterisk 151443 LEUKEMIA INHIBITORY FACTOR RECEPTOR; LIFR
Asterisk 151445 Fc FRAGMENT OF IgE, LOW AFFINITY II, RECEPTOR FOR; FCER2 LEUKOCYTE ANTIGEN CD23; CD23;; IgE-BINDING FACTOR; IGEBF;; IMMUNOGLOBULIN E RECEPTOR, LOW AFFINITY II;; IgE RECEPTOR, LYMPHOCYTE;; C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER J; CLEC4J
Asterisk 151450 LEUKOCYTE ANTIGEN GROUP FIVE; LAG5 GRANULOCYTE ANTIGEN 5
Asterisk 151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC LEUKOCYTE-COMMON ANTIGEN; LCA;; T200 GLYCOPROTEIN;; CD45;; CD45R;; Ly5, HOMOLOG OF;; B220
Caret 151465 MOVED TO 162643
NULL 151500 LEUKOCYTE NUCLEAR APPENDAGES, HEREDITARY PREVALENCE OF
Asterisk 151510 INTEGRIN, ALPHA-X; ITGAX LEUKOCYTE SURFACE ANTIGEN p150,95, ALPHA SUBUNIT;; LEU M5, ALPHA SUBUNIT;; MYELOID MEMBRANE ANTIGEN, ALPHA SUBUNIT;; CD11C
Asterisk 151520 LEUKOCYTE TYROSINE KINASE; LTK PROTEIN TYROSINE KINASE-1; TYK1
Asterisk 151523 LEUKOCYTE SURFACE ANTIGEN CD37; CD37
Asterisk 151525 LEUKOCYTE SURFACE ANTIGEN CD53; CD53 ANTIGEN MOX44 IDENTIFIED BY MONOCLONAL ANTIBODY MRC-OX44; MOX44
Asterisk 151530 ALANYL AMINOPEPTIDASE; ANPEP AMINOPEPTIDASE N; PEPN;; CD13 ANTIGEN; CD13;; LEUKOCYTE SURFACE ANTIGEN GP150; GP150
Caret 151540 MOVED TO 600623
Caret 151550 REMOVED FROM DATABASE
Asterisk 151570 LEUKOTRIENE A4 HYDROLASE; LTA4H
Caret 151580 MOVED TO 142360
NULL 151590 LICHEN SCLEROSUS ET ATROPHICUS; LSA
Number Sign 151600 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3 LEUKONYCHIA TOTALIS AND/OR PARTIALIS;; PORCELAIN NAILS LEUKONYCHIA STRIATUS, INCLUDED;; LEUKONYCHIA PUNCTATA, INCLUDED
NULL 151610 LEVATOR-MEDIAL RECTUS SYNKINESIS OCULOMOTOR-LEVATOR SYNKINESIS
NULL 151620 LICHEN PLANUS, FAMILIAL
Number Sign 151623 LI-FRAUMENI SYNDROME; LFS SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI;; SBLA SYNDROME LI-FRAUMENI-LIKE SYNDROME, INCLUDED; LFL, INCLUDED
Asterisk 151625 LIGATIN; LGTN
Asterisk 151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1 LINE-1.2 RETROTRANSPOSABLE ELEMENT; L1.2
Asterisk 151627 LINKIN
Asterisk 151628 LINE RETROTRANSPOSABLE ELEMENT 2; LRE2
Percent 151630 LIP, MEDIAN NODULE OF UPPER
NULL 151640 LIP, HAMARTOMATOUS ENLARGEMENT OF LOWER LIP
Number Sign 151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2 FPL2;; LIPODYSTROPHY, FAMILIAL PARTIAL, DUNNIGAN TYPE;; LIPODYSTROPHY, FAMILIAL, OF LIMBS AND LOWER TRUNK;; LIPODYSTROPHY, REVERSE PARTIAL;; LIPOATROPHIC DIABETES
Asterisk 151670 LIPASE, HEPATIC; LIPC LIPH;; HEPATIC TRIGLYCERIDE LIPASE; HTGL;; HEPATIC LIPASE; HL
Asterisk 151675 LIPOCALIN 1; LCN1 LIPOCALIN, TEAR;; PREALBUMIN, TEAR;; PROTEIN MIGRATING FASTER THAN ALBUMIN;; VON EBNER GLAND PROTEIN;; VEG PROTEIN; VEGP
Caret 151680 MOVED TO 269880
Asterisk 151690 ANNEXIN A1; ANXA1 ANNEXIN I; ANX1;; LIPOCORTIN I; LPC1;; CALPACTIN II
NULL 151700 LIPOMA OF THE CONJUNCTIVA
Caret 151710 MOVED TO 151740
Caret 151720 MOVED TO 151740
Caret 151730 MOVED TO 151740
Asterisk 151740 ANNEXIN A2; ANXA2 ANNEXIN II; ANX2;; ANNEXIN II, HEAVY CHAIN;; LIPOCORTIN II; LPC2; LIP2 ANNEXIN II PSEUDOGENE 1, INCLUDED; ANX2P1, INCLUDED;; ANX2P2, INCLUDED;; ANX2P3, INCLUDED
Asterisk 151750 LIPASE, HORMONE-SENSITIVE; LIPE HSL
NULL 151800 LIPOMATOSIS, MULTIPLE SYMMETRIC; MSL LIPOMATOSIS, FAMILIAL BENIGN CERVICAL;; LIPODYSTROPHY, CEPHALOTHORACIC
Percent 151900 LIPOMATOSIS, MULTIPLE LIPOMATOSIS, FAMILIAL MULTIPLE; FML;; LIPOMA; LIPO
Asterisk 151990 LIPOPOLYSACCHARIDE-BINDING PROTEIN; LBP LPS-BINDING PROTEIN
Percent 152100 LIPOPROTEIN TYPES--Ld SYSTEM
Plus 152200 APOLIPOPROTEIN(a); LPA LIPOPROTEIN(a), INCLUDED; Lp(a), INCLUDED;; LIPOPROTEIN TYPES--Lp SYSTEM Lp(a) HYPERLIPOPROTEINEMIA, INCLUDED;; SINKING PRE-BETA-LIPOPROTEIN, INCLUDED; SPB, INCLUDED;; LIPOPROTEIN(a) DEFICIENCY, CONGENITAL, INCLUDED;; Lp(a) DEFICIENCY, CONGENITAL, INCLUDED;; CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED
NULL 152300 LIPOPROTEIN TYPES--Lt SYSTEM
Asterisk 152310 TISSUE FACTOR PATHWAY INHIBITOR; TFPI EXTRINSIC PATHWAY INHIBITOR; EPI;; LIPOPROTEIN-ASSOCIATED COAGULATION INHIBITOR; LACI;; TFPI1
Asterisk 152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5 5-LIPOXYGENASE; LOG5; 5-LO
Asterisk 152391 ARACHIDONATE 12-OXIDOREDUCTASE; ALOX12 12-LIPOXYGENASE; LOG12;; 12LO
Asterisk 152392 ARACHIDONATE 15-LIPOXYGENASE; ALOX15 15-LIPOXYGENASE, RETICULOCYTE ARACHIDONATE
NULL 152400 LIPOPROTEIN, VARIANT OF BETA BETA-LIPOPROTEIN, DOUBLE
NULL 152420 LITHIUM TRANSPORT
Asterisk 152422 LOCUS CONTROL REGION, ALPHA LCR-ALPHA; LCRA
Caret 152423 MOVED TO 192090
Asterisk 152424 LOCUS CONTROL REGION, BETA LCR-BETA; LCRB
Asterisk 152425 ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 1; ACSL1 FATTY ACID CoA LIGASE, LONG CHAIN 2; FACL2;; LONG CHAIN ACYL-CoA SYNTHETASE 2; LACS2;; PALMITOYL-CoA LIGASE 2;; FATTY ACID CoA LIGASE, LONG CHAIN 1; FACL1;; LONG CHAIN ACYL-CoA SYNTHETASE; LACS;; ACYL-CoA SYNTHETASE 1; ACS1;; PALMITOYL-CoA LIGASE 1
Caret 152426 MOVED TO 152425
Asterisk 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2 HUMAN ETHER-A-GO-GO-RELATED GENE; HERG;; ETHER-A-GO-GO-RELATED GENE, HUMAN;; ERG1;; KV11.1
Percent 152430 LONGEVITY 1
Asterisk 152445 LORICRIN; LOR EPIDERMAL DIFFERENTIATION COMPLEX, INCLUDED; EDC, INCLUDED
NULL 152450 LOW DENSITY LIPOPROTEIN, VARIATION IN MOLECULAR WEIGHT OF
Caret 152460 MOVED TO 137950
NULL 152550 LUMBAR STENOSIS, FAMILIAL
NULL 152600 LUNULAE OF FINGERNAILS
Asterisk 152690 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 6; XRCC6 THYROID AUTOANTIGEN, 70-KD; G22P1;; Ku ANTIGEN, 70-KD SUBUNIT; Ku70;; LUPUS AUTOANTIGEN p70;; THYROID-LUPUS AUTOANTIGEN; TLAA
Number Sign 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA, INCLUDED;; EXCESS LMW-DNA, INCLUDED
Asterisk 152760 GONADOTROPIN-RELEASING HORMONE 1; GNRH1 GNRH;; LUTEINIZING HORMONE-RELEASING HORMONE; LHRH PROLACTIN RELEASE-INHIBITING FACTOR, INCLUDED; PIF, INCLUDED
Caret 152761 MOVED TO 138850
Asterisk 152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB LUTROPIN, BETA CHAIN;; INTERSTITIAL CELL STIMULATING HORMONE, BETA CHAIN;; CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 4; CGB4
Asterisk 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR LUTROPIN-CHORIOGONADOTROPIN RECEPTOR; LCGR;; LUTEINIZING HORMONE RECEPTOR; LHR;; GONADOTROPIN RECEPTOR
Percent 152800 LYMPHANGIECTASIA, INTESTINAL
NULL 152900 LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY
Number Sign 152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;; MLCRD SYNDROME;; MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION, AUTOSOMAL DOMINANT;; CDMMR SYNDROME;; LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;; LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS
Caret 153000 MOVED TO 153400
Number Sign 153100 LYMPHEDEMA, HEREDITARY, IA; LMPH1A NONNE-MILROY LYMPHEDEMA;; MILROY DISEASE;; LYMPHEDEMA, EARLY-ONSET;; PRIMARY CONGENITAL LYMPHEDEMA; PCL
Percent 153200 LYMPHEDEMA, HEREDITARY, II; LMPH2 MEIGE DISEASE;; MEIGE LYMPHEDEMA;; LYMPHEDEMA, LATE-ONSET;; LYMPHEDEMA PRAECOX
Asterisk 153240 SELECTIN L; SELL L-SELECTIN;; LYMPHOCYTE ADHESION MOLECULE 1; LYAM1; LAM1;; LEU8;; CD62 ANTIGEN LIGAND; CD62L
Asterisk 153243 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 8; TNFRSF8 LYMPHOID ACTIVATION ANTIGEN CD30; CD30
Plus 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1 TRANSCRIPTION FACTOR, T CELL-SPECIFIC, 1, ALPHA;; TCF1-ALPHA SEBACEOUS TUMORS, SOMATIC, INCLUDED
NULL 153280 LYMPHOCYTE CYTOSOL POLYPEPTIDE, 40-KD LC40P;; LCP40
NULL 153290 LYMPHOCYTE CYTOSOL POLYPEPTIDE, 49-KD LC49P;; LCP49
Percent 153300 YELLOW NAIL SYNDROME YNS;; LYMPHEDEMA AND YELLOW NAILS
Asterisk 153310 CHARCOT-LEYDEN CRYSTAL PROTEIN; CLC LYSOPHOSPHOLIPASE OF EOSINOPHIL;; GALECTIN 10; LGALS10
Asterisk 153330 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 1; LAMP1 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN A; LAMPA;; LYSOSOMAL MEMBRANE GLYCOPROTEIN, 120-KD; LGP120;; CD107A
Caret 153335 MOVED TO 182284
Asterisk 153337 LYMPHOCYTE ACTIVATION GENE 3; LAG3 CD223 ANTIGEN; CD223
Asterisk 153340 LYMPHOCYTE ANTIGEN CD5; CD5 Ly1, MOUSE, HOMOLOG OF;; T1;; LEU1
Caret 153360 MOVED TO 300257
Asterisk 153370 INTEGRIN, ALPHA-L; ITGAL LYMPHOCYTE FUNCTION-ASSOCIATED ANTIGEN, TYPE 1, ALPHA SUBUNIT; LFA1A;; CD11A
Asterisk 153380 LYMPHOCYTE CYTOSOL POLYPEPTIDE, 20-KD CP20;; LCP20
Asterisk 153390 LYMPHOCYTE-SPECIFIC PROTEIN-TYROSINE KINASE; LCK ONCOGENE LCK;; p56(LCK)
Number Sign 153400 LYMPHEDEMA-DISTICHIASIS SYNDROME LYMPHEDEMA WITH DISTICHIASIS LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, INCLUDED
Asterisk 153420 CD58 MOLECULE; CD58 LYMPHOCYTE FUNCTION-ASSOCIATED ANTIGEN, TYPE 3; LFA3
Asterisk 153430 LYMPHOCYTE CYTOSOLIC PROTEIN 1; LCP1 LYMPHOCYTE CYTOSOL POLYPEPTIDE, 64-KD; LC64P; CP64;; L-PLASTIN; LPL;; PLASTIN 2; PLS2
Asterisk 153432 LYMPHOCYTE-SPECIFIC PROTEIN; LSP1 pp52
Asterisk 153435 LYMPHOKINE-ACTIVATED KILLER CELL LIGAND; LAKL
Asterisk 153440 LYMPHOTOXIN-ALPHA; LTA LYMPHOTOXIN-A;; TUMOR NECROSIS FACTOR, BETA; TNFB;; TNF, LYMPHOCYTE-DERIVED
Asterisk 153450 LYSOZYME; LYZ
Asterisk 153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD1 LYSYL HYDROXYLASE; LLH; LH;; LYSYL HYDROXYLASE 1; LH1;; LYSINE HYDROXYLASE
Asterisk 153455 LYSYL OXIDASE; LOX
Asterisk 153456 LYSYL OXIDASE-LIKE 1; LOXL1 LOXL
Caret 153460 MOVED TO 232600
NULL 153470 MACROCEPHALY, BENIGN FAMILIAL COLE-HUGHES SYNDROME
Number Sign 153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS BANNAYAN-ZONANA SYNDROME; BZS;; RILEY-SMITH SYNDROME;; RUVALCABA-MYHRE-SMITH SYNDROME; RMSS;; MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA;; MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA
Number Sign 153550 CHROMOSOME 5q DELETION SYNDROME 5q- SYNDROME;; MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5q DELETION; MAR MEGAKARYOCYTES, UNILOBULAR NUCLEATED, INCLUDED
Percent 153600 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1 MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, INCLUDED
Asterisk 153615 CAPPING PROTEIN, GELSOLIN-LIKE; CAPG MACROPHAGE CAPPING PROTEIN; MCP
Asterisk 153618 MANNOSE RECEPTOR, C-TYPE, 1; MRC1 MACROPHAGE MANNOSE RECEPTOR; MMR; MR;; CD206
Asterisk 153619 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3 MACROPHAGE GALACTOSE-SPECIFIC LECTIN; MAC2;; GALACTOSIDE-BINDING PROTEIN; GALBP;; GALECTIN 3; GAL3 GALECTIN 3 INTERNAL GENE, INCLUDED; GALIG, INCLUDED
Asterisk 153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF MMIF
Asterisk 153622 MACROPHAGE SCAVENGER RECEPTOR; MSR1 SCAVENGER RECEPTOR CLASS A, MEMBER 1; SCARA1;; SRA
Percent 153630 MACROGLOSSIA
Asterisk 153634 MACROPHAGE ANTIGEN CD68; CD68 MACROSIALIN
Number Sign 153640 FECHTNER SYNDROME; FTNS MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS;; ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, FORMERLY; APSM, FORMERLY
Number Sign 153650 EPSTEIN SYNDROME; EPSTNS MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS
Number Sign 153670 BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2
Number Sign 153700 MACULAR DYSTROPHY, VITELLIFORM, 2; VMD2 VITELLIFORM MACULAR DYSTROPHY, EARLY-ONSET;; VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET;; BEST MACULAR DYSTROPHY; BMD;; MACULAR DEGENERATION, POLYMORPHIC VITELLINE;; BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL
Number Sign 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 MACULOPATHY, AGE-RELATED, 2;; MACULAR DEGENERATION, SENILE
Percent 153840 MACULAR DYSTROPHY, VITELLIFORM, 1; VMD1 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM
Caret 153860 MOVED TO 169150
Percent 153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR MCDCA;; MACULAR DYSTROPHY, BENIGN CONCENTRIC ANNULAR; BCAMD
Percent 153880 MACULAR DYSTROPHY, DOMINANT CYSTOID; DCMD CYSTOID MACULAR DYSTROPHY; CYMD;; MACULAR EDEMA, CYSTOID;; MDDC
NULL 153890 MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE
Caret 153900 MOVED TO 600110
Caret 154000 MOVED TO 145250
Number Sign 154020 HYPOMAGNESEMIA 2, RENAL; HOMG2 MAGNESIUM WASTING, RENAL;; MAGNESIUM LOSS, ISOLATED RENAL
Asterisk 154030 NUCLEASE-SENSITIVE ELEMENT-BINDING PROTEIN 1; NSEP1 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, Y BOX-BINDING PROTEIN 1; YB1;; YBX1;; DNA-BINDING PROTEIN B; DBPB
Asterisk 154040 RD RNA-BINDING PROTEIN; RDBP MAJOR HISTOCOMPATIBILITY COMPLEX GENE RD; RD;; NEGATIVE ELONGATION FACTOR POLYPEPTIDE E; NELFE
Asterisk 154045 LENS INTRINSIC MEMBRANE PROTEIN 2, 19-KD; LIM2 MP19;; MP17
Asterisk 154050 MAJOR INTRINSIC PROTEIN OF LENS FIBER; MIP MP26;; MIP26;; LIM1;; AQUAPORIN 0; AQP0
Asterisk 154100 MALATE DEHYDROGENASE, MITOCHONDRIAL; MDH2
Asterisk 154200 MALATE DEHYDROGENASE, SOLUBLE; MDH1 MALATE DEHYDROGENASE, CYTOPLASMIC
Number Sign 154230 46,XY SEX REVERSAL 4; SRXY4 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH 9p24.3 DELETION;; CHROMOSOME 9p24.3 DELETION SYNDROME
Asterisk 154235 MALE GERM CELL-ASSOCIATED KINASE; MAK
Asterisk 154250 MALIC ENZYME 1; ME1 MALIC ENZYME, NADP(+)-DEPENDENT, CYTOSOLIC;; MALIC ENZYME, SOLUBLE; MES;; MALATE DEHYDROGENASE, NADP(+)-DEPENDENT, SOLUBLE
Asterisk 154270 MALIC ENZYME 2; ME2 MALIC ENZYME, NAD(+)-DEPENDENT, MITOCHONDRIAL
Percent 154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 MHS2
Percent 154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 MHS3
Asterisk 154280 SUPPRESSOR OF ANCHORAGE INDEPENDENCE 1; SAI1 TRANSFORMATION SUPPRESSOR 1; TFS1;; NEOPLASTIC TRANSFORMATION, SUPPRESSION OF;; MALIGNANT TRANSFORMATION SUPPRESSION 1; MTS1
NULL 154300 MALOCCLUSION DUE TO PROTUBERANT UPPER FRONT TEETH
Asterisk 154360 MALTASE-GLUCOAMYLASE; MGAM MGA
Asterisk 154365 PROTEASOME 26S SUBUNIT, ATPase, 2; PSMC2 MAMMALIAN SUPPRESSOR OF sgv-1 OF YEAST; MSS1;; PROTEASE 26S, SUBUNIT 7; S7
NULL 154370 MAMMASTATIN
Number Sign 154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, WITH LIMB ANOMALIES;; NAGER ACROFACIAL DYSOSTOSIS;; AFD, NAGER TYPE;; NAGER SYNDROME
Number Sign 154500 TREACHER COLLINS SYNDROME 1; TCS1 TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF;; TREACHER COLLINS SYNDROME; TCS;; MANDIBULOFACIAL DYSOSTOSIS; MFD1
Asterisk 154540 MANNOSE 6-PHOSPHATE RECEPTOR, CATION-DEPENDENT; M6PR CDMPR;; SMALL MANNOSE 6-PHOSPHATE RECEPTOR; SMPR
Asterisk 154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2 MANNOSE-BINDING LECTIN; MBL;; MANNOSE-BINDING PROTEIN, SERUM; MBP1;; MANNAN-BINDING PROTEIN;; COLLECTIN 1; COLEC1
Asterisk 154550 MANNOSEPHOSPHATE ISOMERASE; MPI PHOSPHOMANNOSE ISOMERASE 1; PMI1; PMI
Percent 154570 MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE PHOSPHODIESTER GLYCOSIDE DEFICIENCY
Asterisk 154580 MANNOSIDASE, ALPHA, CLASS 2C, MEMBER 1; MAN2C1 MANNOSIDASE, ALPHA A, CYTOPLASMIC; MANA
Asterisk 154582 MANNOSIDASE, ALPHA, CLASS 2A, MEMBER 1; MAN2A1 MANNOSIDASE, ALPHA, II; MANA2
NULL 154600 MARCUS GUNN PHENOMENON JAW-WINKING;; MAXILLOPALPEBRAL SYNKINESIS
Number Sign 154700 MARFAN SYNDROME; MFS MARFAN SYNDROME, TYPE I; MFS1
Caret 154705 MOVED TO 610380
NULL 154750 MARFANOID HYPERMOBILITY SYNDROME
Number Sign 154780 MARSHALL SYNDROME; MRSHS
Asterisk 154790 PROTEASE INHIBITOR 5; PI5 SERPIN FAMILY B, MEMBER 5; SERPINB5;; MASPIN
NULL 154800 MAST CELL DISEASE MASTOCYTOSIS URTICARIA PIGMENTOSA, INCLUDED
NULL 154850 MASTICATORY MUSCLES, HYPERTROPHY OF MASSETER MUSCLE HYPERTROPHY
Asterisk 154870 MATRIX GAMMA-CARBOXYGLUTAMIC ACID; MGP GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, MATRIX;; MATRIX Gla PROTEIN; MGLAP
Asterisk 154950 MAX PROTEIN; MAX MYC-ASSOCIATED FACTOR X
Percent 155000 MAXILLOFACIAL DYSOSTOSIS
Percent 155050 MAXILLONASAL DYSPLASIA, BINDER TYPE BINDER SYNDROME
Number Sign 155100 MAY-HEGGLIN ANOMALY; MHA BLEEDING DISORDER, PLATELET-TYPE, 6; BDPLT6;; DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS;; MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS
Asterisk 155120 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 11; ADAM11 METALLOPROTEINASE-LIKE, DISINTEGRIN-LIKE, AND CYSTEINE-RICH PROTEIN; MDC
NULL 155140 MECKEL DIVERTICULUM
Percent 155145 CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA PAI SYNDROME
NULL 155150 MEDIAN-ULNAR NERVE COMMUNICATIONS MARTIN-GRUBER MEDIAN-ULNAR ANASTOMOSIS
NULL 155200 MEDIOSTERNAL DEPIGMENTATION LINE
Number Sign 155240 THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC FMTC;; MTC1
Caret 155250 MOVED TO 130130
Number Sign 155255 MEDULLOBLASTOMA; MDB MEDULLOBLASTOMA, DESMOPLASTIC, INCLUDED;; MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY, INCLUDED; MBEN, INCLUDED
Number Sign 155310 VISCERAL MYOPATHY; VSCM MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;; INFANTILE VISCERAL MYOPATHY;; MEGADUODENUM AND/OR MEGACYSTIS;; BERDON SYNDROME;; PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL
Percent 155350 MEGALENCEPHALY, AUTOSOMAL DOMINANT
NULL 155500 MEGALODACTYLY MACRODACTYLY
Asterisk 155540 MELANOCORTIN 3 RECEPTOR; MC3R MC3 RECEPTOR
Asterisk 155541 MELANOCORTIN 4 RECEPTOR; MC4R MCR RECEPTOR
Asterisk 155550 SILVER, MOUSE, HOMOLOG OF; SILV MELANOCYTE PROTEIN 17; PMEL17;; PREMELANOSOMAL PROTEIN; PMEL;; GP100;; ME20
Asterisk 155555 MELANOCORTIN 1 RECEPTOR; MC1R MELANOCYTE-STIMULATING HORMONE RECEPTOR; MSHR;; MELANOTROPIN RECEPTOR
Percent 155600 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1 MELANOMA, CUTANEOUS MALIGNANT; CMM;; MELANOMA, MALIGNANT;; FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME; FAMMM;; MELANOMA, FAMILIAL; MLM;; DYSPLASTIC NEVUS SYNDROME, HEREDITARY; DNS;; B-K MOLE SYNDROME
Number Sign 155601 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2
NULL 155700 MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR
Number Sign 155720 MELANOMA, UVEAL
Asterisk 155730 CHEMOKINE, CXC MOTIF, LIGAND 1; CXCL1 GRO1 ONCOGENE; GRO1;; SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 1; SCYB1;; GRO PROTEIN, ALPHA; GROA;; MELANOMA GROWTH STIMULATORY ACTIVITY, ALPHA; MGSA;; KERATINOCYTE-DERIVED CHEMOKINE, MOUSE, HOMOLOG OF; KC
Asterisk 155735 MELANOMA ADHESION MOLECULE; MCAM MELANOMA-ASSOCIATED GLYCOPROTEIN MUC18; MUC18;; CD146;; GICERIN, CHICKEN, HOMOLOG OF
Asterisk 155740 CD63 ANTIGEN; CD63 MELANOMA-ASSOCIATED ANTIGEN MLA1; MLA1;; MELANOMA-ASSOCIATED ANTIGEN ME491;; GRANULOPHYSIN
Caret 155741 MOVED TO 600186
Asterisk 155750 MELANOMA-ASSOCIATED ANTIGEN p97; MFI2 p97 MELANOMA ANTIGEN; MAP97;; MELANOTRANSFERRIN
Number Sign 155755 MELANOMA-ASTROCYTOMA SYNDROME MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME
Asterisk 155760 AGGRECAN; ACAN AGGRECAN 1; AGC1;; AGCAN;; CHONDROITIN SULFATE PROTEOGLYCAN CORE PROTEIN 1; CSPG1
NULL 155770 MELANOMA TUMOR ANTIGEN GP90 CLASS 1 UNIQUE TUMOR ANTIGEN OF MELANOMA; GP90
Caret 155800 MOVED TO 145250
Percent 155900 MELKERSSON-ROSENTHAL SYNDROME MROS; MRS;; MELKERSSON SYNDROME
Percent 155950 MELORHEOSTOSIS, ISOLATED MEL
Caret 155960 REMOVED FROM DATABASE
Asterisk 155970 MEMBRANE GLYCOPROTEIN MRC OX-2; MOX2 OX2;; CD200
Caret 155975 MOVED TO 112205
Percent 155980 MEMBRANOUS CRANIAL OSSIFICATION, DELAYED
NULL 156000 MENIERE DISEASE
Asterisk 156100 MN1 GENE; MN1 MENINGIOMA CHROMOSOME REGION 1; MGCR1 MN1/TEL FUSION GENE, INCLUDED
NULL 156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA
Number Sign 156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 CHROMOSOME 2q23.1 DELETION SYNDROME, INCLUDED
NULL 156220 MERALGIA PARAESTHETICA, FAMILIAL
Asterisk 156225 LAMININ, ALPHA-2; LAMA2 LAMININ 2, HEAVY CHAIN MEROSIN, INCLUDED;; LAMININ 2, INCLUDED;; LAMININ M, INCLUDED; LAMM, INCLUDED
Percent 156230 MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE
Percent 156232 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE; MMDK MDK;; MESOMELIC DYSPLASIA WITH ANKLE, CARPAL, AND TARSAL SYNOSTOSIS;; MESOMELIC DYSPLASIA, THAI TYPE
Number Sign 156240 MESOTHELIOMA, MALIGNANT; MESOM
Number Sign 156250 METACHONDROMATOSIS; METCDS
NULL 156300 METACHROMASIA OF FIBROBLASTS
NULL 156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASE A
Caret 156340 MOVED TO 156360
Asterisk 156349 METALLOTHIONEIN 1B; MT1B METALLOTHIONEIN IB
Asterisk 156350 METALLOTHIONEIN 1A; MT1A METALLOTHIONEIN IA
Asterisk 156351 METALLOTHIONEIN 1E; MT1E METALLOTHIONEIN IE
Asterisk 156352 METALLOTHIONEIN 1F; MT1F METALLOTHIONEIN IF
Asterisk 156353 METALLOTHIONEIN 1G; MT1G METALLOTHIONEIN IG
Asterisk 156354 METALLOTHIONEIN 1H; MT1H METALLOTHIONEIN IH
Asterisk 156355 METALLOTHIONEIN 1I; MT1I METALLOTHIONEIN I-I
Asterisk 156356 METALLOTHIONEIN 1J; MT1J METALLOTHIONEIN IJ
Asterisk 156357 METALLOTHIONEIN 1K; MT1K METALLOTHIONEIN IK
Asterisk 156358 METALLOTHIONEIN 1L; MT1L METALLOTHIONEIN IL
Asterisk 156359 METALLOTHIONEIN 1X; MT1X METALLOTHIONEIN IX
Asterisk 156360 METALLOTHIONEIN 2A; MT2A METALLOTHIONEIN II; MT2 METALLOTHIONEIN II PROCESSED PSEUDOGENE, INCLUDED; MT2P1, INCLUDED
Number Sign 156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE
Asterisk 156490 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 1; NME1 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN;; METASTASIS INHIBITION FACTOR NM23;; NONMETASTATIC PROTEIN 23; NM23;; NONMETASTATIC PROTEIN 23, HOMOLOG 1; NM23H1;; NUCLEOSIDE DIPHOSPHATE KINASE-A; NDPKA;; GZMA-ACTIVATED DNase; GAAD;; AWD, DROSOPHILA, HOMOLOG OF; AWD NM23H1B, INCLUDED;; NM23 LONG VARIANT, INCLUDED; NM23LV, INCLUDED;; NME1-NME2 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED
Asterisk 156491 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 2; NME2 NONMETASTATIC CELLS 2, PROTEIN EXPRESSED IN;; METASTASIS INHIBITION FACTOR NM23B;; NONMETASTATIC PROTEIN 23B; NM23B;; NONMETASTATIC PROTEIN 23, HOMOLOG 2; NM23H2;; NUCLEOSIDE DIPHOSPHATE KINASE-B; NDPKB
Number Sign 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
Number Sign 156510 METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; MDMHB
Percent 156520 METATARSUS VARUS, TYPE I
Number Sign 156530 METATROPIC DYSPLASIA METATROPIC DWARFISM
Asterisk 156535 METHYL-CpG-BINDING DOMAIN PROTEIN 1; MBD1 PROTEIN CONTAINING METHYL-CpG-BINDING DOMAIN 1; PCM1;; CXXC FINGER PROTEIN 3; CXXC3 METHYL-CpG-BINDING PROTEIN 1 COMPLEX, INCLUDED;; MECP1 COMPLEX, INCLUDED
Caret 156536 MOVED TO 600113
Asterisk 156540 METHYLTHIOADENOSINE PHOSPHORYLASE; MTAP MeSAdo PHOSPHORYLASE; MSAP
Number Sign 156550 KNIEST DYSPLASIA
Asterisk 156560 METHIONYL-tRNA SYNTHETASE; MARS MTRNS;; METRS;; METHIONINE tRNA LIGASE
Asterisk 156565 N-METHYLPURINE DNA GLYCOSYLASE; MPG METHYLADENINE DNA GLYCOSYLASE; MDG;; 3-METHYLADENINE DNA GLYCOSYLASE;; 3MeAde DNA GLYCOSYLASE;; 3-ALKYLADENINE DNA GLYCOSYLASE; AAG;; ALKYLPURINE DNA N-GLYCOSYLASE; APNG
Asterisk 156569 METHYLGUANINE-DNA METHYLTRANSFERASE; MGMT
Asterisk 156570 5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR TETRAHYDROPTEROYLGLUTAMATE METHYLTRANSFERASE;; METHIONINE SYNTHASE; MS
Caret 156575 MOVED TO 600682
Percent 156580 MICROCEPHALY, AUTOSOMAL DOMINANT
Caret 156590 MOVED TO 152950
Number Sign 156600 MICROCORIA, CONGENITAL CHROMOSOME 13q32 DELETION SYNDROME;; MCOR;; MIOSIS, CONGENITAL
Number Sign 156610 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1 SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS;; CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE;; MICHELIN TIRE BABY SYNDROME
NULL 156620 MICROCEPHALY-DEAFNESS SYNDROME
NULL 156700 MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES
Asterisk 156790 MICROFIBRILLAR-ASSOCIATED PROTEIN 2; MFAP2 MICROFIBRIL-ASSOCIATED GLYCOPROTEIN; MAGP;; MAGP1
NULL 156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD
NULL 156830 MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL
Asterisk 156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF MICROPHTHALMIA, MOUSE, HOMOLOG OF; MI
Percent 156850 MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1 CATARACT, CONGENITAL, WITH MICROPHTHALMIA; CATM
NULL 156900 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA; MCOPCR MICROPHTHALMIA AND CORECTOPIA;; MICROPHTHALMIA WITH MYOPIA AND CORECTOPIA
Caret 157100 MOVED TO 193220
Asterisk 157129 MICROTUBULE-ASSOCIATED PROTEIN 1B; MAP1B FUTSCH, DROSOPHILA, HOMOLOG OF; FUTSCH
Asterisk 157130 MICROTUBULE-ASSOCIATED PROTEIN 2; MAP2 MAP, DENDRITE-SPECIFIC
Asterisk 157132 MICROTUBULE-ASSOCIATED PROTEIN 4; MAP4
Asterisk 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT MTBT1
Asterisk 157145 MICROSEMINOPROTEIN, BETA; MSMB MSPB
Asterisk 157147 MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; MTTP MTP;; MTP, LARGE SUBUNIT
NULL 157150 MICROSPHEROPHAKIA WITH HERNIA
NULL 157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA
Caret 157160 MOVED TO 157140
Number Sign 157170 HOLOPROSENCEPHALY 2; HPE2
NULL 157200 MIDPHALANGEAL HAIR MIDDIGITAL HAIR
Percent 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 MGR1;; MGAU; MA;; MIGRAINE
Percent 157400 MILIA, MULTIPLE ERUPTIVE; MEM
Caret 157500 MOVED TO 173310
Caret 157550 MOVED TO 117000
Asterisk 157560 MINISATELLITE 33.6 MS336;; D1S111
Asterisk 157570 MINISATELLITE 33.15 MS3315;; D7S437
Number Sign 157600 MIRROR MOVEMENTS 1; MRMV1 MIRROR MOVEMENTS 1 AND/OR AGENESIS OF THE CORPUS CALLOSUM;; MIRROR MOVEMENTS, CONGENITAL;; BIMANUAL SYNERGIA
Number Sign 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1; PEOA1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
Caret 157650 MOVED TO 500002
Asterisk 157655 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1; NDUFS1 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 75-KD SUBUNIT
Asterisk 157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP LONG NONCODING RNA RMRP;; lncRNA RMRP;; RMRPR
Caret 157670 MOVED TO 600438
Asterisk 157680 CELL DIVISION CYCLE 25C; CDC25C MITOSIS INDUCER CDC25; CDC25
Percent 157700 MITRAL VALVE PROLAPSE 1; MVP1 MITRAL VALVE PROLAPSE, MYXOMATOUS 1; MMVP1;; MYXOMATOUS MITRAL VALVE PROLAPSE 1;; MITRAL VALVE PROLAPSE, FAMILIAL; MVP PROLAPSED MITRAL VALVE; PMV;; MITRAL REGURGITATION, FAMILIAL;; FLOPPY MITRAL VALVE;; BARLOW SYNDROME;; MYXOMATOUS VALVULAR DISEASE, FAMILIAL;; CLICK-MURMUR SYNDROME
Number Sign 157800 CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCF MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICAL VERTEBRAE AND OF CARPAL AND TARSAL BONES
Caret 157860 MOVED TO 142860
Percent 157900 MOEBIUS SYNDROME; MBS MOBIUS SYNDROME; MBS;; MOEBIUS SEQUENCE
Caret 157910 MOVED TO 157900
Caret 157920 MOVED TO 309845
Percent 157950 PERMANENT MOLARS, SECONDARY RETENTION OF ANKYLOSIS OF TEETH;; DENTAL ANKYLOSIS;; MOLAR I REINCLUSION
NULL 157960 MOLONEY LEUKEMIA VIRUS INTEGRATION SITE 2, MOUSE, HOMOLOG OF; MLVI2
Asterisk 157970 PROTEASOME 26S SUBUNIT, NON-ATPase, 7; PSMD7 MOLONEY LEUKEMIA VIRUS 34 PROVIRAL INTEGRATION SITE GENE, MOUSE, HOMOLOG OF; MOV34;; RPN8
Caret 157975 MOVED TO 172411
NULL 157980 MOMO SYNDROME MACROSOMIA, OBESITY, MACROCEPHALY, AND OCULAR ABNORMALITIES
Number Sign 158000 MONILETHRIX; MNLIX
Caret 158020 MOVED TO 600182
NULL 158030 ANTIGEN DEFINED BY MONOCLONAL ANTIBODY AJ9 MSK1
NULL 158040 ANTIGEN DEFINED BY MONOCLONAL ANTIBODY T87 MSK2
NULL 158050 MONKEY RED BLOOD CELL RECEPTOR; MRBC B-CELL RECEPTOR FOR MONKEY RED BLOOD CELLS
Asterisk 158070 SOLUTE CARRIER FAMILY 3 (ACTIVATOR OF DIBASIC AND NEUTRAL AMINO ACID TRANSPORT), MEMBER 2; SLC3A2 MDU1;; ANTIGEN DEFINED BY MONOCLONAL ANTIBODY 4F2, HEAVY CHAIN;; 4F2 HEAVY CHAIN; 4F2HC;; CD98 HEAVY CHAIN; CD98; CD98HC MONOCLONAL ANTIBODY 44D7, INCLUDED
NULL 158100 MONOPHALANGY OF GREAT TOE
Plus 158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2 SMALL INDUCIBLE CYTOKINE A2; SCYA2;; MONOCYTE CHEMOTACTIC PROTEIN 1; MCP1;; MONOCYTE CHEMOTACTIC AND ACTIVATING FACTOR; MCAF CORONARY ARTERY DISEASE, MODIFIER OF, INCLUDED;; CORONARY ARTERY DISEASE, DEVELOPMENT OF, IN HIV, INCLUDED
Asterisk 158106 CHEMOKINE, CC MOTIF, LIGAND 7; CCL7 SMALL INDUCIBLE CYTOKINE A7; SCYA7;; MONOCYTE CHEMOTACTIC PROTEIN 3; MCP3
Asterisk 158120 MONOCYTE DIFFERENTIATION ANTIGEN CD14; CD14 MYELOID CELL-SPECIFIC LEUCINE-RICH GLYCOPROTEIN
Caret 158130 MOVED TO 158105
Caret 158150 MOVED TO 172250
Number Sign 158170 CHROMOSOME 9p DELETION SYNDROME MONOSOMY 9p SYNDROME
NULL 158250 NONDISJUNCTION MOSAICISM, CHROMOSOMAL;; MIXOPLOIDY, FAMILIAL
Asterisk 158270 MOTILIN; MLN
NULL 158280 MOTION SICKNESS
Number Sign 158300 ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME;; MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS;; HECHT SYNDROME
Percent 158310 MUCOEPITHELIAL DYSPLASIA, HEREDITARY HMD
Number Sign 158320 MUIR-TORRE SYNDROME; MRTES CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS
Number Sign 158330 MULLERIAN APLASIA AND HYPERANDROGENISM MULLERIAN DUCT FAILURE AND HYPERANDROGENISM
Asterisk 158340 MUCIN 1, TRANSMEMBRANE; MUC1 MUCIN 1, URINARY;; PEANUT-REACTIVE URINARY MUCIN; PUM;; MUCIN, TUMOR-ASSOCIATED EPITHELIAL;; POLYMORPHIC EPITHELIAL MUCIN; PEM;; EPITHELIAL MEMBRANE ANTIGEN; EMA
Asterisk 158343 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 1; ABCC1 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 1; MRP1;; MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN; MRP
NULL 158345 MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS
Number Sign 158350 COWDEN SYNDROME 1; CWS1 CS; CD;; MULTIPLE HAMARTOMA SYNDROME; MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED;; CEREBELLOPARENCHYMAL DISORDER VI, INCLUDED; CPD6, INCLUDED;; CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED;; LHERMITTE-DUCLOS DISEASE, INCLUDED; LDD, INCLUDED;; PROTEUS-LIKE SYNDROME, INCLUDED
Asterisk 158370 MUCIN 2, INTESTINAL; MUC2
Asterisk 158371 MUCIN 3A, INTESTINAL; MUC3A MUCIN 3, INTESTINAL; MUC3
Asterisk 158372 MUCIN 4, TRACHEOBRONCHIAL; MUC4
Asterisk 158373 MUCIN 5, SUBTYPES A AND C, TRACHEOBRONCHIAL; MUC5AC MUC5;; MUCIN 5, TRACHEOBRONCHIAL/GASTRIC
Asterisk 158374 MUCIN 6, GASTRIC; MUC6
Asterisk 158375 MUCIN 7, SALIVARY; MUC7 MUCIN, SALIVARY, LOW MOLECULAR WEIGHT
Asterisk 158378 SOLUTE CARRIER FAMILY 20 (PHOSPHATE TRANSPORTER), MEMBER 2; SLC20A2 PHOSPHATE TRANSPORTER, SODIUM-DEPENDENT, 2; PIT2;; GIBBON APE LEUKEMIA RETROVIRUS RECEPTOR 2; GLVR2;; MURINE LEUKEMIA VIRUS, AMPHOTROPIC, RECEPTOR FOR; MLVAR;; RECEPTOR FOR AMPHOTROPIC MURINE RETROVIRUS; RAM1
Asterisk 158380 ECOTROPIC VIRAL INTEGRATION SITE 2A; EVI2A MURINE MYELOID LEUKEMIA-ASSOCIATED GENE EVI2A, MOUSE, HOMOLOG OF;; MURINE MYELOID LEUKEMIA-ASSOCIATED GENE EVI2, MOUSE, HOMOLOG OF; EVI2;; EVDA
Asterisk 158381 ECOTROPIC VIRAL INTEGRATION SITE 2B; EVI2B MURINE MYELOID LEUKEMIA-ASSOCIATED GENE EVI2B, MOUSE, HOMOLOG OF;; EVDB
Percent 158400 MUSCLE CRAMPS, FAMILIAL
Percent 158500 MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS
Number Sign 158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A HMN VIIA;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA;; DHMN7A;; DHMNVP;; SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS;; HARPER-YOUNG MYOPATHY
Number Sign 158590 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A HMN IIA;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; DHMN2A;; SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, IIA;; CHARCOT-MARIE-TOOTH DISEASE, SPINAL, IIA
Number Sign 158600 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT; SMALED1 SMA-LED;; SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT;; SPINAL MUSCULAR ATROPHY, JUVENILE, PROXIMAL, AUTOSOMAL DOMINANT;; KUGELBERG-WELANDER SYNDROME, AUTOSOMAL DOMINANT
NULL 158650 MUSCULAR ATROPHY, MALIGNANT NEUROGENIC
Caret 158700 MOVED TO 105400
NULL 158800 MUSCULAR DYSTROPHY, BARNES TYPE
Number Sign 158810 BETHLEM MYOPATHY 1; BTHLM1 BETHLEM MYOPATHY;; MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES;; MUSCULAR DYSTROPHY, BENIGN CONGENITAL
Number Sign 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1;; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FSHD; FMD;; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1A; FSHD1A;; LANDOUZY-DEJERINE MUSCULAR DYSTROPHY FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE, INCLUDED;; FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES, INCLUDED
Number Sign 158901 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC;; FSHD2, DIGENIC;; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 2;; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1B; FSHD1B
Number Sign 159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A LGMD1;; MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1A
Number Sign 159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
Percent 159050 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES
NULL 159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE
Percent 159300 MUSICAL PERFECT PITCH ABSOLUTE PITCH; AP
Asterisk 159350 MUTATED IN COLORECTAL CANCERS; MCC
NULL 159400 MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE MYASTHENIA GRAVIS, LIMB-GIRDLE
Asterisk 159405 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG-LIKE 1; MYBL1 MYB-RELATED GENE AMYB
NULL 159410 MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS
NULL 159420 MYDRIASIS, CONGENITAL
Asterisk 159430 MYELIN BASIC PROTEIN; MBP MYELIN A1 PROTEIN, BASIC;; MYELIN MEMBRANE ENCEPHALITOGENIC PROTEIN HEMOPOIETIC MBP, INCLUDED; HMBP, INCLUDED
Asterisk 159440 MYELIN PROTEIN ZERO; MPZ MYELIN GLYCOPROTEIN P-ZERO; P0;; MYELIN PROTEIN, PERIPHERAL; MPP
Caret 159455 MOVED TO 170715
Asterisk 159460 MYELIN-ASSOCIATED GLYCOPROTEIN; MAG SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 4A; SIGLEC4A
Asterisk 159465 MYELIN-OLIGODENDROCYTE GLYCOPROTEIN; MOG
NULL 159500 MYELINATED OPTIC NERVE FIBERS
Asterisk 159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL THROMBOPOIETIN RECEPTOR; TPOR;; MYELOPROLIFERATIVE LEUKEMIA VIRUS, MOUSE, HOMOLOG OF; MPLV
Asterisk 159540 LEUKEMIA-INHIBITORY FACTOR; LIF CHOLINERGIC DIFFERENTIATION FACTOR;; D-FACTOR
Number Sign 159550 ATAXIA-PANCYTOPENIA SYNDROME; ATXPC MYELOCEREBELLAR DISORDER
Asterisk 159552 MYELOID CELL LEUKEMIA SEQUENCE 1; MCL1 MYELOID CELL LEUKEMIA 1, LONG ISOFORM, INCLUDED; MCL1L, INCLUDED;; MYELOID CELL LEUKEMIA 1, SHORT ISOFORM, INCLUDED; MCL1S, INCLUDED
Asterisk 159553 MYELOID CELL NUCLEAR DIFFERENTIATION ANTIGEN; MNDA
Plus 159555 LYSINE-SPECIFIC METHYLTRANSFERASE 2A; KMT2A MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA GENE; MLL; MLL1;; TRITHORAX, DROSOPHILA, HOMOLOG OF; TRX1;; HRX;; MYELOID/LYMPHOID LEUKEMIA GENE;; MIXED LINEAGE LEUKEMIA GENE;; ALL1 GENE; ALL1;; CXXC FINGER PROTEIN 7; CXXC7 MIXED LINEAGE LEUKEMIA, INCLUDED;; MLL/AF4 FUSION GENE, INCLUDED;; MLL/ENL FUSION GENE, INCLUDED;; MLL/AF9 FUSION GENE, INCLUDED;; MLL/GMPS FUSION GENE, INCLUDED;; MLL/FBP17 FUSION GENE, INCLUDED;; MLL/LPP FUSION GENE, INCLUDED;; MLL/GPH FUSION GENE, INCLUDED;; MLL/PNUTL1 FUSION GENE, INCLUDED;; MLL/CDK6 FUSION GENE, INCLUDED;; MLL/LASP1 FUSION GENE, INCLUDED;; MLL/GRAF FUSION GENE, INCLUDED;; MLL/ABI1 FUSION GENE, INCLUDED;; MLL/LAF4 FUSION GENE, INCLUDED;; MLL/CBL FUSION GENE, INCLUDED;; MLL/LARG FUSION GENE, INCLUDED;; MLL/AF10 FUSION GENE, INCLUDED;; MLL/AF15q14 FUSION GENE, INCLUDED;; MLL/AF6 FUSION GENE, INCLUDED;; MLL/CIP29 FUSION GENE, INCLUDED;; MLL/SEPT6 FUSION GENE, INCLUDED;; MLL/MAML2 FUSION GENE, INCLUDED;; MLL/KIAA1524 FUSION GENE, INCLUDED
Asterisk 159556 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 1; MLLT1 MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 1;; ELEVEN-NINETEEN LEUKEMIA GENE; ENL ENL/MLL FUSION GENE, INCLUDED
Asterisk 159557 AF4/FMR2 FAMILY, MEMBER 1; AFF1 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 2; MLLT2;; MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 2;; ALL1-FUSED GENE FROM CHROMOSOME 4; AF4
Asterisk 159558 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3; MLLT3 MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3;; ALL1-FUSED GENE FROM CHROMOSOME 9; AF9
Asterisk 159559 AFADIN; AFDN MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 4; MLLT4;; MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 4;; ALL1-FUSED GENE FROM CHROMOSOME 6; AF6;; CANOE, DROSOPHILA, HOMOLOG OF AF6/MLL FUSION GENE, INCLUDED
NULL 159580 MYELOPATHY, HTLV-1-ASSOCIATED; HAM FAMILIAL SPASTIC PARAPARESIS, HTLV-1-ASSOCIATED
Asterisk 159590 CD33 ANTIGEN; CD33 MYELOID DIFFERENTIATION ANTIGEN CD33;; SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 3; SIGLEC3;; p67
Percent 159595 MYELOPROLIFERATIVE SYNDROME, TRANSIENT MST;; LEUKEMIA, TRANSIENT;; TRANSIENT ABNORMAL MYELOPOIESIS; TAM
Percent 159600 MYOCLONIC EPILEPSY, HARTUNG TYPE
NULL 159700 MYOCLONUS AND ATAXIA RAMSAY HUNT SYNDROME
NULL 159800 MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS
Number Sign 159900 DYSTONIA 11, MYOCLONIC; DYT11 MYOCLONUS-DYSTONIA SYNDROME;; MYOCLONIC DYSTONIA;; DYSTONIA, ALCOHOL-RESPONSIVE;; MYOCLONUS, HEREDITARY ESSENTIAL
Number Sign 159950 SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY; SMAPME MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY
Asterisk 159970 MYOGENIC DIFFERENTIATION ANTIGEN 1; MYOD1 MYOD;; MYOGENIC FACTOR 3; MYF3
Asterisk 159980 MYOGENIN; MYOG MYOGENIC FACTOR 4; MYF4
Asterisk 159990 MYOGENIC FACTOR 5; MYF5
Asterisk 159991 MYOGENIC FACTOR 6; MYF6 MUSCLE REGULATORY FACTOR 4; MRF4;; HERCULIN
Asterisk 160000 MYOGLOBIN; MB
Percent 160010 MYOGLOBINURIA, AUTOSOMAL DOMINANT
Caret 160100 MOVED TO 160120
Number Sign 160120 EPISODIC ATAXIA, TYPE 1; EA1 EPISODIC ATAXIA WITH MYOKYMIA; EAM;; ATAXIA, EPISODIC, WITH MYOKYMIA; AEM; AEMK;; PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY;; MYOKYMIA WITH PERIODIC ATAXIA MYOKYMIA 1, INCLUDED;; CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY, INCLUDED;; ISAACS-MERTENS SYNDROME, INCLUDED;; MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA, INCLUDED
Number Sign 160150 MYOPATHY, CENTRONUCLEAR, 1; CNM1 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT;; MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT
Caret 160200 MOVED TO 161800
Percent 160300 MYOPATHY, DISTAL, INFANTILE-ONSET
Number Sign 160500 MYOPATHY, DISTAL, 1; MPD1 MYOPATHY, LATE DISTAL HEREDITARY;; LAING DISTAL MYOPATHY;; MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT
Caret 160550 MOVED TO 157640
Number Sign 160565 MYOPATHY, TUBULAR AGGREGATE, 1; TAM1 MYOPATHY, TUBULAR AGGREGATE; TAM;; TUBULAR AGGREGATE MYOPATHY
NULL 160570 MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS
Percent 160700 MYOPIA 2, AUTOSOMAL DOMINANT; MYP2
Asterisk 160710 MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6 MYH, CARDIAC; MYHC;; MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA
Asterisk 160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC; MYH3 MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1;; MYHC-EMB
Asterisk 160730 MYOSIN, HEAVY CHAIN 1, SKELETAL MUSCLE, ADULT; MYH1 MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 1; MYHSA1;; MYOSIN, HEAVY CHAIN, IIx/d;; MYH2X/D;; MYHC2X/D;; MYHC IIx/d;; MHC IIx/d
Asterisk 160740 MYOSIN, HEAVY CHAIN 2, SKELETAL MUSCLE, ADULT; MYH2 MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2;; MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;; MYHC IIa;; MHC IIa
Asterisk 160741 MYOSIN, HEAVY CHAIN 8, SKELETAL MUSCLE, PERINATAL; MYH8 MYOSIN, HEAVY CHAIN, PERINATAL;; MYHC-PERI;; MYHC-PN
Asterisk 160742 MYOSIN, HEAVY CHAIN 4, SKELETAL MUSCLE; MYH4 MYOSIN, SKELETAL MUSCLE, HEAVY CHAIN;; MYOSIN, HEAVY CHAIN, IIb; MYHC2B; MYH2B;; MYHC IIb;; MHC IIb
Asterisk 160745 MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE; MYH11 MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;; SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC MYH11/CBFB FUSION GENE, INCLUDED
Percent 160750 MYOSITIS MYOPATHY, FAMILIAL IDIOPATHIC INFLAMMATORY; IIM
Asterisk 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7 MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB
Asterisk 160770 MYOSIN, LIGHT CHAIN 4, ALKALI, ATRIAL, EMBRYONIC; MYL4 EMBRYONIC/ATRIAL MYOSIN ALKALI LIGHT CHAIN;; MYOSIN, ATRIAL/FETAL MUSCLE, LIGHT CHAIN
Asterisk 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9 CELLULAR MYOSIN HEAVY CHAIN, TYPE A;; MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;; NONMUSCLE MYOSIN IIA;; NMHC IIA
Asterisk 160776 MYOSIN, HEAVY CHAIN 10, NONMUSCLE; MYH10 CELLULAR MYOSIN HEAVY CHAIN, TYPE B;; MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE B; NMMHCB;; NONMUSCLE MYOSIN IIB;; NMHC IIB
Asterisk 160777 MYOSIN VA; MYO5A MYO5;; MYOSIN, HEAVY CHAIN 12; MYH12;; MYOXIN;; DILUTE, MOUSE, HOMOLOG OF
Asterisk 160780 MYOSIN, LIGHT POLYPEPTIDE 1, ALKALI, SKELETAL, FAST; MYL1 MYOSIN, LIGHT CHAIN, FAST SKELETAL
Asterisk 160781 MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW; MYL2 MLC2;; REGULATORY LIGHT CHAIN OF MYOSIN;; RLC OF MYOSIN;; MYOSIN, LIGHT CHAIN, REGULATORY VENTRICULAR
Asterisk 160782 MYOSIN, LIGHT CHAIN 5, REGULATORY; MYL5
Asterisk 160790 MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW; MYL3 ESSENTIAL LIGHT CHAIN OF MYOSIN;; ELC OF MYOSIN;; MYOSIN, LIGHT CHAIN 1, SLOW, B; MLC1SB;; MYOSIN, LIGHT CHAIN 1, VENTRICULAR; MLC1V
Asterisk 160793 MYOSIN-BINDING PROTEIN C, FAST TYPE; MYBPC2 MYBPCF
Asterisk 160794 MYOSIN-BINDING PROTEIN C, SLOW TYPE; MYBPC1 MYBPCS
Asterisk 160795 MYOSIN-BINDING PROTEIN H; MYBPH MYOSIN-BINDING PROTEIN, 86-KD
Number Sign 160800 MYOTONIA CONGENITA, AUTOSOMAL DOMINANT THOMSEN DISEASE; THD MYOTONIA LEVIOR, INCLUDED
Number Sign 160900 MYOTONIC DYSTROPHY 1; DM1 DYSTROPHIA MYOTONICA 1;; DYSTROPHIA MYOTONICA; DM;; STEINERT DISEASE
Number Sign 160980 CARNEY COMPLEX, TYPE 1; CNC1 CARNEY MYXOMA-ENDOCRINE COMPLEX;; CARNEY SYNDROME; CAR;; MYXOMA, SPOTTY PIGMENTATION, AND ENDOCRINE OVERACTIVITY;; NAME SYNDROME;; LAMB SYNDROME
NULL 160990 MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS
Asterisk 160993 N-MYRISTOYLTRANSFERASE 1; NMT1 MYRISTOYL-CoA:PROTEIN N-MYRISTOYLTRANSFERASE; NMT
Asterisk 160994 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN M; HNRNPM HNRPM;; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN M4; HNRNPM4; HNRPM4;; N-ACETYLGLUCOSAMINE RECEPTOR 1, FORMERLY; NAGR1, FORMERLY
Asterisk 160995 ALPHA-1,3-MANNOSYL-GLYCOPROTEIN BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; MGAT1 GlcNAc-T I;; N-ACETYLGLUCOSAMINYLTRANSFERASE I;; MGAT;; UDP-N-ACETYLGLUCOSAMINE:ALPHA-3-D-MANNOSIDE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE I; GLCT1
Asterisk 160998 NAD(P)H DEHYDROGENASE, QUINONE 2; NQO2 NAD(P)H:MENADIONE OXIDOREDUCTASE 1, DIOXIN-INDUCIBLE 2; NMOR2
Number Sign 161000 NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME; NFJS NAEGELI SYNDROME;; NFJ SYNDROME
Asterisk 161015 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1; NDUFV1 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT;; UQOR1
Percent 161050 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1; NDNC1 TWENTY-NAIL DYSTROPHY;; ONYCHODYSTROPHY TOTALIS, ISOLATED NAIL GROWTH, INCLUDED
NULL 161070 NAIL HIGH-SULFUR PROTEIN
NULL 161080 NAIL LOW-SULFUR PROTEIN
NULL 161100 NAILBEDS, PIGMENTATION OF
Number Sign 161200 NAIL-PATELLA SYNDROME; NPS NPS1;; ONYCHOOSTEODYSPLASIA;; TURNER-KIESER SYNDROME;; FONG DISEASE
Number Sign 161400 NARCOLEPSY 1; NRCLP1 NARCOLEPTIC SYNDROME 1 CATAPLEXY, INCLUDED
NULL 161470 NASAL ALAR COLLAPSE, BILATERAL
NULL 161480 NASAL BONES, ABSENCE OF
Percent 161500 NASAL GROOVE, FAMILIAL TRANSVERSE
NULL 161530 NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE
Percent 161550 NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2; NPCA2
Asterisk 161555 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 1; KLRC1 NATURAL KILLER CELL LECTIN; NKG2 NKG2A, INCLUDED;; NKG2B, INCLUDED
Asterisk 161560 INTERLEUKIN 12A; IL12A IL12, p35 SUBUNIT;; CYTOTOXIC LYMPHOCYTE MATURATION FACTOR; CLMF;; NATURAL KILLER CELL STIMULATORY FACTOR, 35-KD SUBUNIT; NKSF1;; IL35, p35 SUBUNIT
Asterisk 161561 INTERLEUKIN 12B; IL12B IL12, SUBUNIT p40;; INTERLEUKIN 23, p40 SUBUNIT;; CYTOTOXIC LYMPHOCYTE MATURATION FACTOR 2; CLMF2;; NATURAL KILLER CELL STIMULATORY FACTOR, 40-KD SUBUNIT; NKSF2
Asterisk 161565 NATURAL KILLER CELL TRIGGERING RECEPTOR; NKTR NATURAL KILLER TUMOR RECOGNITION SEQUENCE
NULL 161600 NAVICULAR BONE, ACCESSORY
Asterisk 161650 NEBULIN; NEB
NULL 161700 NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT LEIGH SYNDROME, ADULT
Number Sign 161800 NEMALINE MYOPATHY 3; NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUDED;; NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS, INCLUDED;; MYOPATHY, ACTIN, CONGENITAL, WITH CORES, INCLUDED
Percent 161900 RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION; RFH1 NEPHROPATHY, FAMILIAL;; NEPHRITIS, FAMILIAL, WITHOUT DEAFNESS OR OCULAR DEFECT;; RENAL FAILURE, ADULT-ONSET; AORF
Percent 161950 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1; IGAN1 IGAN;; NEPHRITIS, IgA TYPE;; BERGER DISEASE
Number Sign 162000 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1; HNFJ1 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE; HNFJ;; FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY; FJHN;; NEPHROPATHY, FAMILIAL, WITH GOUT;; GOUTY NEPHROPATHY, FAMILIAL JUVENILE
Asterisk 162010 NERVE GROWTH FACTOR RECEPTOR; NGFR TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 16; TNFRSF16;; p75(NTR);; CD271
NULL 162020 NERVE GROWTH FACTOR, ALPHA SUBUNIT; NGFA
Asterisk 162030 NERVE GROWTH FACTOR; NGF NERVE GROWTH FACTOR, BETA SUBUNIT; NGFB
Caret 162040 MOVED TO 147960
Asterisk 162060 GROWTH-ASSOCIATED PROTEIN 43; GAP43 NEUROMODULIN;; NERVE GROWTH-RELATED PEPTIDE GAP43
Asterisk 162080 NEURAL RETINA LEUCINE ZIPPER; NRL NEURAL RETINA-SPECIFIC GENE;; D14S46E
Number Sign 162091 SCHWANNOMATOSIS 1; SWNTS1 NEURILEMMOMATOSIS, CONGENITAL CUTANEOUS
Asterisk 162095 PLEIOTROPHIN; PTN NEURITE OUTGROWTH-PROMOTING FACTOR, HEPARIN-BINDING;; NEURITE GROWTH-PROMOTING FACTOR 1; NEGF1;; HEPARIN-BINDING GROWTH FACTOR 8; HBGF8
Asterisk 162096 MIDKINE; MDK MIDGESTATION AND KIDNEY PROTEIN; MK;; NEURITE GROWTH-PROMOTING FACTOR 2, FORMERLY; NEGF2, FORMERLY
Number Sign 162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA NEURITIS WITH BRACHIAL PREDILECTION; NAPB;; BRACHIAL PLEXUS NEUROPATHY, HEREDITARY;; AMYOTROPHY, HEREDITARY NEURALGIC, WITH PREDILECTION FOR BRACHIAL PLEXUS
Asterisk 162150 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1 NEUROENDOCRINE CONVERTASE 1; NEC1;; PROPROTEIN CONVERTASE 1; PC1;; PROHORMONE CONVERTASE 1;; PROHORMONE CONVERTASE 3; PC3
Asterisk 162151 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 2; PCSK2 PROPROTEIN CONVERTASE PC2; PC2;; NEUROENDOCRINE CONVERTASE 2; NEC2
Number Sign 162200 NEUROFIBROMATOSIS, TYPE I; NF1 NEUROFIBROMATOSIS, PERIPHERAL TYPE;; VON RECKLINGHAUSEN DISEASE
Number Sign 162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL FSNF
Caret 162220 MOVED TO 162200 AND 606764
Asterisk 162230 NEUROFILAMENT PROTEIN, HEAVY POLYPEPTIDE; NEFH NFH
NULL 162240 NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME NPDC SYNDROME;; DUODENAL CARCINOID SYNDROME
Asterisk 162250 NEUROFILAMENT PROTEIN, MEDIUM POLYPEPTIDE; NEFM NEUROFILAMENT 3; NEF3;; NFM
NULL 162260 NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL; NF3A NEUROFIBROMATOSIS, TYPE III, OF RICCARDI;; NF III; NF3;; NEUROFIBROMATOSIS, TYPE III, RICCARDI TYPE NEUROFIBROMAS, PALMAR CUTANEOUS, INCLUDED
NULL 162270 NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4 NEUROFIBROMATOSIS, VARIANT FORM(S) OF;; NF IV;; NEUROFIBROMATOSIS, ATYPICAL
Asterisk 162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL NEUROFILAMENT PROTEIN, LIGHT CHAIN; NFL;; NF68
Number Sign 162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B MEN IIB;; NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS;; WAGENMANN-FROBOESE SYNDROME;; MULTIPLE ENDOCRINE NEOPLASIA, TYPE III, FORMERLY; MEN3, FORMERLY MUCOSAL NEUROMA SYNDROME, INCLUDED
Asterisk 162320 TACHYKININ 1; TAC1 TACHYKININ 2, FORMERLY; TAC2, FORMERLY NEUROKININ A, INCLUDED; NKNA, INCLUDED;; NEUROKININ 2, INCLUDED; NK2, INCLUDED;; SUBSTANCE P, INCLUDED;; NEUROMEDIN L, INCLUDED;; NEUROPEPTIDE K, INCLUDED;; SUBSTANCE K, FORMERLY, INCLUDED
Asterisk 162321 TACHYKININ RECEPTOR 2; TACR2 NEUROKININ A RECEPTOR; NKNAR;; NEUROKININ 2 RECEPTOR; NK2R;; SUBSTANCE K RECEPTOR
Asterisk 162323 TACHYKININ RECEPTOR 1; TACR1 NEUROKININ 1 RECEPTOR; NK1R;; SUBSTANCE P RECEPTOR
Asterisk 162330 TACHYKININ 3; TAC3 NEUROKININ B; NKB;; NEUROMEDIN K;; NKNB;; TACHYKININ 2, MOUSE, HOMOLOG OF; TAC2
Asterisk 162332 TACHYKININ RECEPTOR 3; TACR3 NEUROKININ 3 RECEPTOR; NK3R;; NEUROKININ B RECEPTOR
Asterisk 162340 NEUROMEDIN B; NMB
Asterisk 162341 NEUROMEDIN B RECEPTOR; NMBR
Number Sign 162350 CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B KUFS DISEASE, AUTOSOMAL DOMINANT;; CEROID LIPOFUSCINOSIS, NEURONAL, PARRY TYPE
Asterisk 162360 NESCIENT HELIX LOOP HELIX 1; NHLH1 NSCL;; HEN1
Asterisk 162361 NESCIENT HELIX LOOP HELIX 2; NHLH2 NEURONAL SCL-LIKE PROTEIN 2; NSCL2;; HEN2
Percent 162370 NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX
Caret 162375 MOVED TO 118200
NULL 162380 NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUAL PATHWAY AND AUTONOMIC DISTURBANCE
Number Sign 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A HSAN IA;; HSAN1;; NEUROPATHY, HEREDITARY SENSORY, TYPE IA; HSN1A;; HSN IA;; NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL DOMINANT, TYPE 1A
Number Sign 162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP POLYNEUROPATHY, FAMILIAL RECURRENT;; TOMACULOUS NEUROPATHY
NULL 162600 NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE
Asterisk 162640 NEUROPEPTIDE Y; NPY Y NEUROPEPTIDE
Asterisk 162641 NEUROPEPTIDE Y RECEPTOR Y1; NPY1R NPYR
Asterisk 162642 NEUROPEPTIDE Y RECEPTOR Y2; NPY2R
Asterisk 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4 NEUROPEPTIDE Y RECEPTOR Y3; NPY3R;; FUSIN;; D2S201E;; LEUKOCYTE-DERIVED SEVEN-TRANSMEMBRANE-DOMAIN RECEPTOR; LESTR;; SEVEN-TRANSMEMBRANE-SEGMENT RECEPTOR, SPLEEN;; HM89;; LIPOPOLYSACCHARIDE-ASSOCIATED PROTEIN 3; LAP3;; LPS-ASSOCIATED PROTEIN 3
Asterisk 162650 NEUROTENSIN; NTS
Asterisk 162651 NEUROTENSIN RECEPTOR 1; NTSR1
Asterisk 162660 NEUROTROPHIN 3; NTF3 NEUROTROPHIC FACTOR 3; NT3
Caret 162661 MOVED TO 162662
Asterisk 162662 NEUROTROPHIN 4; NTF4 NEUROTROPHIN 5; NTF5;; NEUROTROPHIN 4/5;; NEUROTROPHIC FACTOR 5; NT5;; NEUROTROPHIC FACTOR 4; NT4
Percent 162700 NEUTROPENIA, CHRONIC FAMILIAL LEUKOPENIA, BENIGN FAMILIAL
Number Sign 162800 CYCLIC NEUTROPENIA CYCLIC HEMATOPOIESIS
Asterisk 162815 NEUTROPHIL AZUROCIDIN; NAZC AZUROCIDIN; AZU1;; CATIONIC ANTIMICROBIAL PROTEIN-37; CAP37
Percent 162820 NEUTROPHIL MIGRATION; NM NEUTROPHIL CHEMOTACTIC RESPONSE; NCR
Number Sign 162830 NEUTROPHILIA, HEREDITARY
Asterisk 162860 CD177 ANTIGEN; CD177 NEUTROPHIL-SPECIFIC ANTIGEN 1; NB1;; PRV1;; HNA2A
Caret 162870 MOVED TO 146740
Asterisk 162880 NEUTROPHIL-SPECIFIC ANTIGEN: ND1
Asterisk 162890 NEUTROPHIL-SPECIFIC ANTIGEN: NE1
Number Sign 162900 NEVUS, EPIDERMAL NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC NEVUS SEBACEOUS, INCLUDED;; NEVUS, WOOLLY HAIR, INCLUDED
Number Sign 163000 CAPILLARY MALFORMATIONS, CONGENITAL; CMC NEVI FLAMMEI, FAMILIAL MULTIPLE;; PORT-WINE STAIN;; CAPILLARY MALFORMATIONS; CMAL
NULL 163050 NEVUS ANEMICUS
Percent 163100 NEVUS FLAMMEUS OF NAPE OF NECK UNNA NEVUS;; ERYTHEMA NUCHAE
Number Sign 163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM SFM SYNDROME;; LINEAR SEBACEOUS NEVUS SYNDROME;; SEBACEOUS NEVUS SYNDROME, LINEAR;; JADASSOHN NEVUS PHAKOMATOSIS; JNP;; NEVUS SEBACEUS OF JADASSOHN;; ORGANOID NEVUS PHAKOMATOSIS;; EPIDERMAL NEVUS SYNDROME, FORMERLY
Asterisk 163260 NUCLEAR FACTOR ERYTHROID 2-LIKE 1; NFE2L1 NFE2-RELATED TRANSCRIPTION FACTOR;; NFE2-RELATED FACTOR 1; NRF1;; TRANSCRIPTION FACTOR 11; TCF11
Percent 163400 NIEVERGELT SYNDROME MESOMELIC DYSPLASIA, NIEVERGELT TYPE
Number Sign 163500 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2 NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE
NULL 163600 NIPPLES INVERTED MAMMILLAE INVERTITAE
Percent 163700 NIPPLES, SUPERNUMERARY ACCESSORY NIPPLES;; POLYMASTIA;; POLYTHELIA, FAMILIAL
Caret 163728 MOVED TO 163730
Plus 163729 NITRIC OXIDE SYNTHASE 3; NOS3 NITRIC OXIDE SYNTHASE, ENDOTHELIAL; ENOS CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO, INCLUDED;; ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO, INCLUDED;; HYPERTENSION, PREGNANCY-INDUCED, SUSCEPTIBILITY TO, INCLUDED;; HYPERTENSION RESISTANT TO CONVENTIONAL THERAPY, INCLUDED
Asterisk 163730 NITRIC OXIDE SYNTHASE 2A; NOS2A NOS2;; NOS2A, INDUCIBLE, HEPATOCYTE;; NITRIC OXIDE SYNTHASE, INDUCIBLE; INOS;; NITRIC OXIDE SYNTHASE, MACROPHAGE
Asterisk 163731 NITRIC OXIDE SYNTHASE 1; NOS1 NITRIC OXIDE SYNTHASE, NEURONAL, INCLUDED;; NITRIC OXIDE SYNTHASE, PENILE NEURONAL, INCLUDED; PNNOS, INCLUDED
Number Sign 163800 SICK SINUS SYNDROME 2; SSS2 SICK SINUS SYNDROME 2 WITH OR WITHOUT CARDIAC NONCOMPACTION AND/OR ASCENDING AORTA DILATION;; ATRIAL FIBRILLATION WITH BRADYARRHYTHMIA;; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL DOMINANT;; SINUS BRADYCARDIA SYNDROME, FAMILIAL, AUTOSOMAL DOMINANT
NULL 163850 NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES
Asterisk 163890 SYNUCLEIN, ALPHA; SNCA NON-A-BETA COMPONENT OF ALZHEIMER DISEASE AMYLOID, PRECURSOR OF; NACP;; NON-A4 COMPONENT OF AMYLOID, PRECURSOR OF
Caret 163900 REMOVED FROM DATABASE
Asterisk 163905 HIGH MOBILITY GROUP BOX 1; HMGB1 HIGH MOBILITY GROUP PROTEIN 1; HMG1;; CHROMOSOMAL PROTEIN, NONHISTONE, HMG1;; NONHISTONE CHROMOSOMAL PROTEIN HMG1;; AMPHOTERIN
Asterisk 163906 HIGH MOBILITY GROUP BOX 2; HMGB2 HIGH MOBILITY GROUP PROTEIN 2; HMG2;; CHROMOSOMAL PROTEIN, NONHISTONE, HMG2;; NONHISTONE CHROMOSOMAL PROTEIN HMG2
Asterisk 163910 HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 2; HMGN2 HIGH MOBILITY GROUP PROTEIN 17; HMG17;; CHROMOSOMAL PROTEIN, NONHISTONE, HMG17;; NONHISTONE CHROMOSOMAL PROTEIN HMG17
Asterisk 163920 HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 1; HMGN1 HIGH MOBILITY GROUP PROTEIN 14; HMG14;; CHROMOSOMAL PROTEIN, NONHISTONE, HMG14;; NONHISTONE CHROMOSOMAL PROTEIN HMG14
Number Sign 163950 NOONAN SYNDROME 1; NS1 NOONAN SYNDROME;; MALE TURNER SYNDROME;; FEMALE PSEUDO-TURNER SYNDROME;; TURNER PHENOTYPE WITH NORMAL KARYOTYPE PTERYGIUM COLLI SYNDROME, INCLUDED
Caret 163955 MOVED TO 163950 AND 610733
Asterisk 163970 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, NORADRENALINE), MEMBER 2; SLC6A2 NEUROTRANSMITTER TRANSPORTER, NORADRENALINE; NAT1;; NOREPINEPHRINE TRANSPORTER PROTEIN 1; NET; NET1
Asterisk 163980 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 6; CEACAM6 NONSPECIFIC CROSSREACTING ANTIGEN; NCA;; NORMAL CROSSREACTING ANTIGEN;; CEA-LIKE PROTEIN; CEAL
NULL 164000 NOSE, ANOMALOUS SHAPE OF POTATO NOSE
Asterisk 164005 NUCLEAR FACTOR I/X; NFIX NUCLEAR FACTOR I, X-TYPE;; CCAAT-BINDING TRANSCRIPTION FACTOR;; NF1A
Asterisk 164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, ALPHA; NFKBIA NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR; NFKBI;; NUCLEAR FACTOR KAPPA-B INHIBITOR;; INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, ALPHA;; I-KAPPA-B-ALPHA; IKBA
Asterisk 164009 NUCLEAR MITOTIC APPARATUS PROTEIN 1; NUMA1 NUMA1/RARA FUSION GENE, INCLUDED
Asterisk 164010 CHMP FAMILY, MEMBER 1A; CHMP1A CHROMATIN-MODIFYING PROTEIN 1A;; CHARGED MULTIVESICULAR BODY PROTEIN 1A;; CHMP1;; PROCOLLAGEN, TYPE III, N-ENDOPEPTIDASE; PCOLN3;; METALLOPROTEASE 1; PRSM1;; METALLOPROTEASE, 33-KD
Asterisk 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1 TRANSCRIPTION FACTOR NFKB1;; NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS 1 NFKB p105, INCLUDED;; NFKB p50, INCLUDED
Asterisk 164012 NUCLEAR FACTOR KAPPA-B, SUBUNIT 2; NFKB2 TRANSCRIPTION FACTOR NFKB2;; NFKB, p52/p100 SUBUNIT;; NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS 2;; ONCOGENE LYT 10; LYT10;; LYMPHOCYTE TRANSLOCATION CHROMOSOME 10 NFKB, p100 SUBUNIT, INCLUDED;; NFKB, p52 SUBUNIT, INCLUDED
Asterisk 164013 NUCLEAR FACTOR RELATED TO KAPPA-B BINDING PROTEIN; NFRKB
Asterisk 164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA NUCLEAR FACTOR KAPPA-B, SUBUNIT 3; NFKB3;; TRANSCRIPTION FACTOR NFKB3;; NFKB, p65 SUBUNIT;; NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS 3 RELA/C11ORF95 FUSION GENE, INCLUDED
Asterisk 164015 MATRIN 3; MATR3
Caret 164016 MOVED TO 600489
Asterisk 164017 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HNRNPA1 HNRPA1;; NUCLEAR RIBONUCLEOPROTEIN PARTICLE A1 PROTEIN
Caret 164018 MOVED TO 600124
Caret 164019 MOVED TO 600124
Asterisk 164020 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN C; HNRNPC HNRPC NUCLEAR RIBONUCLEOPROTEIN PARTICLE C1 PROTEIN, INCLUDED;; NUCLEAR RIBONUCLEOPROTEIN PARTICLE C2 PROTEIN, INCLUDED
Asterisk 164021 NUCLEAR RIBONUCLEOPROTEIN PARTICLE L PROTEIN
Caret 164022 MOVED TO 300199
Asterisk 164031 NUCLEOLAR PROTEIN 1; NOL1 NUCLEOLAR ANTIGEN p120; p120;; PROLIFERATING CELL NUCLEOLAR PROTEIN P120
Asterisk 164035 NUCLEOLIN; NCL C23
Asterisk 164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1 NUCLEOPHOSMIN; NPM;; NUCLEOLAR PHOSPHOPROTEIN B23;; NUMATRIN NPM1/ALK FUSION GENE, INCLUDED
Asterisk 164050 PURINE NUCLEOSIDE PHOSPHORYLASE; PNP NUCLEOSIDE PHOSPHORYLASE; NP;; PURINE-NUCLEOSIDE:ORTHOPHOSPHATE RIBOSYLTRANSFERASE
Asterisk 164060 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 1; NAP1L1 NAP1; NAP1L;; NAPI-RELATED PROTEIN; NRP;; NUCLEOSOME ASSEMBLY PROTEIN I-RELATED PROTEIN
Percent 164100 NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT; NYS2 NYSTAGMUS, CONGENITAL MOTOR, 2
Percent 164150 NYSTAGMUS, HEREDITARY VERTICAL
Asterisk 164160 LEPTIN; LEP OBESE, MOUSE, HOMOLOG OF; OB
Percent 164170 NYSTAGMUS, VOLUNTARY
Asterisk 164175 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 1; POU2F1 OTF, LYMPHOID-SPECIFIC, 1; OTF1;; OCTAMER-BINDING TRANSCRIPTION FACTOR 1; OCT1
Asterisk 164176 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 2; POU2F2 OTF, LYMPHOID-SPECIFIC, 2; OTF2;; OCTAMER-BINDING TRANSCRIPTION FACTOR 2; OCT2
Asterisk 164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1 OCTAMER-BINDING TRANSCRIPTION FACTOR 3; OCT3; OTF3;; OCTAMER-BINDING TRANSCRIPTION FACTOR 4; OCT4; OTF4 POU5F1/EWS FUSION GENE, INCLUDED
NULL 164180 OCULOCEREBROCUTANEOUS SYNDROME OCCS;; ORBITAL CYST WITH CEREBRAL AND FOCAL DERMAL MALFORMATIONS;; DELLEMAN SYNDROME
NULL 164185 OCULAR CICATRICIAL PEMPHIGOID; OCP
NULL 164190 OCULAR DOMINANCE
Number Sign 164200 OCULODENTODIGITAL DYSPLASIA; ODDD ODD SYNDROME;; OCULODENTOOSSEOUS DYSPLASIA; ODOD
Percent 164210 HEMIFACIAL MICROSOMIA; HFM OCULOAURICULOVERTEBRAL SPECTRUM; OAVS;; GOLDENHAR SYNDROME;; OCULOAURICULOVERTEBRAL DYSPLASIA;; OAV DYSPLASIA;; FACIOAURICULOVERTEBRAL SEQUENCE;; FAV SEQUENCE
Percent 164220 SCHILBACH-ROTT SYNDROME OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS;; CLEFT PALATE, HYPOTELORISM, AND HYPOSPADIAS;; BLEPHAROFACIOSKELETAL SYNDROME; BRSS
Number Sign 164230 OBSESSIVE-COMPULSIVE DISORDER; OCD
Number Sign 164280 FEINGOLD SYNDROME 1; FGLDS1 FEINGOLD SYNDROME;; OCULODIGITOESOPHAGODUODENAL SYNDROME; ODED;; ODED SYNDROME;; MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME; MODED;; DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUS OR DUODENUM;; MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME;; MMT SYNDROME;; MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE
Number Sign 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD MUSCULAR DYSTROPHY, OCULOPHARYNGEAL
Percent 164310 OCULOPHARYNGODISTAL MYOPATHY; OPDM FACIOOCULOLARYNGOPHARYNGEAL MYOPATHY WITH DISTAL AND RESPIRATORY INVOLVEMENT; FOLP-DR
Asterisk 164320 ODORANT-BINDING PROTEIN 2A; OBP2A ODORANT-BINDING PROTEIN; OBP
NULL 164330 ODONTOMA-DYSPHAGIA SYNDROME
Asterisk 164340 OLFACTORY MARKER PROTEIN; OMP
Asterisk 164342 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2 OLFACTORY RECEPTOR 1; OLFR1;; TESTICULAR ODORANT RECEPTOR OR17-4; OR17-4
Asterisk 164343 EARLY B-CELL FACTOR 1; EBF1 EBF;; OLFACTORY NEURONAL TRANSCRIPTION FACTOR 1; OLF1;; COLLIER/OLF1/EBF TRANSCRIPTION FACTOR 1; COE1
Asterisk 164345 OLIGODENDROCYTE-MYELIN GLYCOPROTEIN; OMG OMGP
Asterisk 164350 2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE 1; OAS1 2-PRIME,5-PRIME-OLIGOISOADENYLATE SYNTHETASE; OIAS;; 2-PRIME,5-PRIME-A SYNTHETASE
Asterisk 164360 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, ALPHA SUBUNIT 1; ATP5A1 ATP5A;; MITOCHONDRIAL ATP SYNTHETASE; ATPM;; MITOCHONDRIAL ATP SYNTHETASE, OLIGOMYCIN-RESISTANT; OMR;; MODIFIER OF MIN 2, MOUSE, HOMOLOG OF; MOM2
Number Sign 164400 SPINOCEREBELLAR ATAXIA 1; SCA1 SPINOCEREBELLAR ATROPHY I;; OLIVOPONTOCEREBELLAR ATROPHY I; OPCA1;; OPCA I;; CEREBELLOPARENCHYMAL DISORDER I; CPD1;; MENZEL TYPE OPCA;; OLIVOPONTOCEREBELLAR ATROPHY IV; OPCA4;; OPCA IV;; SCHUT-HAYMAKER TYPE OPCA
Number Sign 164500 SPINOCEREBELLAR ATAXIA 7; SCA7 OLIVOPONTOCEREBELLAR ATROPHY III; OPCA3;; OPCA III;; OPCA WITH RETINAL DEGENERATION;; OPCA WITH MACULAR DEGENERATION AND EXTERNAL OPHTHALMOPLEGIA;; AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, TYPE II;; ADCA, TYPE II
Caret 164600 MOVED TO 164400
NULL 164680 ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR
Asterisk 164690 V-ABL ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ABL2 ONCOGENE ABL2;; ONCOGENE ABLL;; ABELSON-RELATED GENE; ARG;; ONCOGENE ARG ABL2/ETV6 FUSION GENE, INCLUDED
NULL 164700 OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V OPCA WITH DEMENTIA AND EXTRAPYRAMIDAL SIGNS
Caret 164710 REMOVED FROM DATABASE
Asterisk 164720 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1; ETS1 ONCOGENE ETS1;; ETS1 ONCOGENE
Asterisk 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1 ONCOGENE AKT1;; PROTEIN KINASE B-ALPHA;; PKB-ALPHA;; RAC SERINE/THREONINE PROTEIN KINASE
Asterisk 164731 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 2; AKT2 ONCOGENE AKT2;; PROTEIN KINASE B, BETA; PKBB;; PKB-BETA
Asterisk 164740 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 2; ETS2 ONCOGENE ETS2;; ETS2 ONCOGENE;; ETS2 INTRONIC TRANSCRIPT; ETS2IT1
Percent 164745 OMODYSPLASIA 2; OMOD2 OMODYSPLASIA, AUTOSOMAL DOMINANT
Number Sign 164750 OMPHALOCELE, AUTOSOMAL CHROMOSOME 1p31 DUPLICATION SYNDROME
Asterisk 164755 VIRAL INTEGRATION SITE 1; VIS1 HIS1
Caret 164756 MOVED TO 164755
Asterisk 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF ONCOGENE BRAF;; BRAF1;; RAFB1 BRAF/AKAP9 FUSION GENE, INCLUDED;; BRAF/KIAA1549 FUSION GENE, INCLUDED
Caret 164759 MOVED TO 167000
Asterisk 164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1 ONCOGENE RAF1;; TRANSFORMING REPLICATION-DEFECTIVE MURINE RETROVIRUS 3611-MSV;; ONCOGENE MIL;; CRAF RAF1/SRGAP3 FUSION GENE, INCLUDED
Plus 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET RET PROTOONCOGENE RET/ELKS FUSION GENE, INCLUDED;; HIRSCHSPRUNG DISEASE, PROTECTION AGAINST, INCLUDED
Asterisk 164762 V-CRK AVIAN SARCOMA VIRUS CT10 ONCOGENE HOMOLOG; CRK ONCOGENE CRK;; CRKII
Asterisk 164765 CORTACTIN; CTTN ONCOGENE EMS1; EMS1
Asterisk 164770 COLONY-STIMULATING FACTOR 1 RECEPTOR; CSF1R MCSFR;; ONCOGENE FMS; FMS;; c-FMS;; CD115 ANTIGEN; CD115;; V-FMS MCDONOUGH FELINE SARCOMA VIRAL ONCOGENE HOMOLOG, FORMERLY
Asterisk 164772 V-FOS FBJ MURINE OSTEOSARCOMA VIRAL ONCOGENE HOMOLOG B; FOSB ONCOGENE FOSB;; GOSB DELTA-FOSB, INCLUDED
Asterisk 164780 V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SKI ONCOGENE SK, CHICKEN VIRAL;; SK ONCOGENE; SKI
Asterisk 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2 p53-BINDING PROTEIN MDM2;; ONCOPROTEIN MDM2;; HDM2
Asterisk 164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS ONCOGENE NRAS; NRAS1
Asterisk 164795 ONCOMODULIN; OCM PARVALBUMIN, BETA
Percent 164800 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 5; NDNC5 ONYCHOLYSIS, PARTIAL, WITH SCLERONYCHIA;; ONYCHOLYSIS, HEREDITARY DISTAL
Asterisk 164810 V-FOS FBJ MURINE OSTEOSARCOMA VIRAL ONCOGENE HOMOLOG; FOS ONCOGENE FOS;; FBJ OSTEOSARCOMA VIRUS
Asterisk 164820 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 1; WNT1 ONCOGENE INT1; INT1 MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 1, INCLUDED
Caret 164830 REMOVED FROM DATABASE
Asterisk 164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1
Asterisk 164840 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED; MYCN ONCOGENE NMYC;; NMYC ONCOGENE;; AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED;; NEUROBLASTOMA MYC ONCOGENE
Asterisk 164850 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG, LUNG CARCINOMA-DERIVED; MYCL V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG 1, LUNG CARCINOMA-DERIVED; MYCL1;; AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG 1, LUNG CARCINOMA-DERIVED;; ONCOGENE LMYC;; MYC-RELATED GENE FROM LUNG CANCER
Asterisk 164860 MET PROTOONCOGENE; MET ONCOGENE MET;; HEPATOCYTE GROWTH FACTOR RECEPTOR; HGFR
Asterisk 164865 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG-LIKE 1; MYCLK1 ONCOGENE MYC-LIKE-1;; AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG LIKE-1
Asterisk 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2 ONCOGENE ERBB2;; ONCOGENE NGL, NEUROBLASTOMA- OR GLIOBLASTOMA-DERIVED; NGL;; NEU;; TYROSINE KINASE-TYPE CELL SURFACE RECEPTOR HER2; TKR1;; HER2 HERSTATIN, INCLUDED
Asterisk 164873 ETS VARIANT GENE 3; ETV3 ONCOGENE PE1; PE1;; MITOGENIC ETS TRANSCRIPTIONAL SUPPRESSOR; METS
Asterisk 164874 FORKHEAD BOX G1; FOXG1 FORKHEAD BOX G1B; FOXG1B;; FORKHEAD-LIKE 1; FKHL1;; ONCOGENE QIN;; BRAIN FACTOR 1; BF1
Asterisk 164875 VAV1 ONCOGENE; VAV1 ONCOGENE VAV;; ONCOGENE VAV1
Asterisk 164880 V-YES-1 YAMAGUCHI SARCOMA VIRAL ONCOGENE; YES1 ONCOGENE YES1;; YAMAGUCHI SARCOMA ONCOGENE
NULL 164891 ONCOGENE YUASA
Percent 164900 OPHTHALMOMANDIBULOMELIC DYSPLASIA OMM SYNDROME
Caret 164905 MOVED TO 600326
Asterisk 164910 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG; REL ONCOGENE REL;; C-REL
Asterisk 164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT KIT ONCOGENE;; MAST CELL GROWTH FACTOR RECEPTOR;; STEM CELL FACTOR RECEPTOR; SCFR
Asterisk 164940 GARDNER-RASHEED FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; FGR ONCOGENE FGR;; FGR ONCOGENE;; SRC2 ONCOGENE, FORMERLY
Asterisk 164950 FIBROBLAST GROWTH FACTOR 3; FGF3 ONCOGENE INT2; INT2;; V-INT2 MURINE MAMMARY TUMOR VIRUS INTEGRATION SITE ONCOGENE HOMOLOG MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 2, INCLUDED
Asterisk 164951 NOTCH, DROSOPHILA, HOMOLOG OF, 4; NOTCH4 ONCOGENE INT3; INT3;; NOTCH, DROSOPHILA, HOMOLOG OF, 3, FORMERLY; NOTCH3, FORMERLY MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 3, INCLUDED
Asterisk 164953 ONCOGENE LIPOSARCOMA; LPSA D19S381E
Asterisk 164958 NEPHROBLASTOMA OVEREXPRESSED GENE; NOV ONCOGENE NOV;; CCN3
Asterisk 164960 ONCOGENE PIM 1; PIM1 SERINE/THREONINE PROTEIN KINASE PIM1;; PIM
Caret 164970 MOVED TO 191315 AND 191030
Asterisk 164975 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A ONCOGENE WNT5A
Asterisk 164980 FIBROBLAST GROWTH FACTOR 4; FGF4 HEPARIN SECRETORY TRANSFORMING PROTEIN 1; HSTF1;; ONCOGENE HST;; HUMAN STOMACH CANCER, TRANSFORMING FACTOR FROM;; FGF-RELATED ONCOGENE;; KAPOSI SARCOMA ONCOGENE; KFGF
Percent 165000 OPHTHALMOPLEGIA, FAMILIAL STATIC EXTERNAL OPHTHALMOPLEGIA, NONPROGRESSIVE, CONGENITAL HEREDITARY
Caret 165010 MOVED TO 164710
Asterisk 165020 V-ROS AVIAN UR2 SARCOMA VIRUS ONCOGENE HOMOLOG 1; ROS1 ONCOGENE ROS; ROS;; MCF3 ROS1/FIG FUSION GENE, INCLUDED
Asterisk 165040 RAS-ASSOCIATED PROTEIN RAB8A; RAB8A RAS-ASSOCIATED PROTEIN RAB8; RAB8;; ONCOGENE MEL; MEL
Asterisk 165060 TRANSFER RNA SELENOCYSTEINE 1; TRNAU1 tRNA SELENOCYSTEINE 1;; tRNA PHOSPHOSERINE; TRSP;; OPAL SUPPRESSOR PHOSPHOSERINE tRNA
Asterisk 165070 FMS-RELATED TYROSINE KINASE 1; FLT1 ONCOGENE FLT; FLT;; VASCULAR ENDOTHELIAL GROWTH FACTOR/VASCULAR PERMEABILITY FACTOR RECEPTOR;; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR 1; VEGFR1
Asterisk 165080 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG; ERG ONCOGENE ERG;; ETS-RELATED GENE ERG1, INCLUDED;; ERG2, INCLUDED;; ERG/TMPRSS2 FUSION GENE, INCLUDED;; ERG/EWS FUSION GENE, INCLUDED;; ERG/FUS FUSION GENE, INCLUDED
Asterisk 165090 RELATED RAS VIRAL ONCOGENE HOMOLOG; RRAS ONCOGENE RRAS
Asterisk 165095 ONCOSTATIN M; OSM
NULL 165098 OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION
Asterisk 165110 S13 AVIAN ERYTHROBLASTOSIS ONCOGENE HOMOLOG; SEA ONCOGENE SEA
Asterisk 165120 V-YES-1 YAMAGUCHI SARCOMA VIRAL RELATED ONCOGENE HOMOLOG; LYN ONCOGENE LYN
Asterisk 165140 ONCOGENE PVT1; PVT1 MYC ACTIVATOR
NULL 165150 OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY
Asterisk 165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN ONCOGENE JUN ACTIVATOR PROTEIN 1, INCLUDED; AP1, INCLUDED;; ENHANCER-BINDING PROTEIN AP1, INCLUDED
Asterisk 165161 ONCOGENE JUN-B; JUNB
Asterisk 165162 ONCOGENE JUN-D; JUND
Asterisk 165170 SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1 ONCOGENE SPI1;; SFFV VIRUS-INDUCED MURINE ERYTHROLEUKEMIA ONCOGENE, MOUSE, HOMOLOG OF;; HEMATOPOIETIC TRANSCRIPTION FACTOR PU.1
Asterisk 165180 MAS1 ONCOGENE; MAS1 MAS
Asterisk 165190 FIBROBLAST GROWTH FACTOR 5; FGF5
Asterisk 165195 OPIOID RECEPTOR, DELTA-1; OPRD1 OPRD
Asterisk 165196 OPIOID RECEPTOR, KAPPA-1; OPRK1 OPRK
NULL 165199 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL DOMINANT
NULL 165200 OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS
NULL 165210 ONCOGENE BMYC; BMYC
Asterisk 165215 MDS1 AND EVI1 COMPLEX LOCUS; MECOM ECOTROPIC VIRAL INTEGRATION SITE 1; EVI1;; ONCOGENE EVI1;; MYELOID LEUKEMIA-ASSOCIATED GENE EVI1, MOUSE, HOMOLOG OF
Asterisk 165220 GLIOMA-ASSOCIATED ONCOGENE HOMOLOG; GLI1 ONCOGENE GLI; GLI
Asterisk 165230 GLI-KRUPPEL FAMILY MEMBER 2; GLI2 ONCOGENE GLI2
Asterisk 165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3 ONCOGENE GLI3
Asterisk 165250 GLI-KRUPPEL FAMILY MEMBER HKR1; HKR1 ONCOGENE HKR1
Asterisk 165260 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 22; ZSCAN22 GLI-KRUPPEL FAMILY MEMBER HKR2; HKR2;; ONCOGENE HKR2
Asterisk 165270 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 48; ZBTB48 GLI-KRUPPEL FAMILY MEMBER HKR3; HKR3;; ONCOGENE HKR3;; TELOMERIC ZINC FINGER-ASSOCIATED PROTEIN; TZAP
Asterisk 165280 GLI-KRUPPEL FAMILY MEMBER 4; GLI4 ONCOGENE GLI4;; ONCOGENE HKR4
NULL 165290 ONCOGENE RMYC; RMYC
Number Sign 165300 OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3 OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
Asterisk 165320 LIVER CANCER ONCOGENE; LCO ONCOGENE LCA
Asterisk 165330 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3; WNT3 ONCOGENE INT4; INT4 MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 4, INCLUDED
Asterisk 165340 SKI-LIKE; SKIL ONCOGENE SNO; SNO
Caret 165350 MOVED TO 311040
Asterisk 165360 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE HOMOLOG; CBL CASITAS B-LINEAGE LYMPHOMA PROTOONCOGENE;; C-CBL;; ONCOGENE CBL;; ONCOGENE CBL2;; RNF55 CBL/MLL FUSION GENE, INCLUDED
Asterisk 165370 RAS HOMOLOG GENE FAMILY, MEMBER B; RHOB APLYSIA RAS-RELATED HOMOLOG 6; ARH6;; ARHB;; ONCOGENE RHO H6; RHOH6
Asterisk 165380 RAS HOMOLOG GENE FAMILY, MEMBER C; RHOC APLYSIA RAS-RELATED HOMOLOG 9; ARH9;; ARHC;; ONCOGENE RHO H9; RHOH9
Asterisk 165390 RAS HOMOLOG GENE FAMILY, MEMBER A; RHOA APLYSIA RAS-RELATED HOMOLOG 12; ARH12;; ARHA;; ONCOGENE RHO H12; RHOH12; RHO12
Caret 165490 MOVED TO 165500
Number Sign 165500 OPTIC ATROPHY 1; OPA1 OPTIC ATROPHY, JUVENILE;; KJER-TYPE OPTIC ATROPHY;; OPTIC ATROPHY, KJER TYPE; OAK
NULL 165510 OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS
Number Sign 165550 OPTIC NERVE HYPOPLASIA, BILATERAL OPTIC NERVE APLASIA, BILATERAL, INCLUDED
NULL 165590 OROFACIODIGITAL SYNDROME X; OFD10 OFDS X;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE X;; OROFACIODIGITAL SYNDROME WITH FIBULAR APLASIA;; ORAL-FACIAL-DIGITAL SYNDROME WITH FIBULAR APLASIA
NULL 165600 ORBITAL MARGIN, HYPOPLASIA OF
Caret 165630 MOVED TO 163200
Caret 165635 MOVED TO 258870
Asterisk 165640 ORNITHINE DECARBOXYLASE 1; ODC1 ORNITHINE DECARBOXYLASE PSEUDOGENE, INCLUDED; ODCP, INCLUDED;; ORNITHINE DECARBOXYLASE 2, INCLUDED; ODC2, INCLUDED
Caret 165650 MOVED TO 165640
Percent 165660 OSLAM SYNDROME OSTEOSARCOMA, LIMB ANOMALIES, AND MACROCYTOSIS;; OSTEOSARCOMA, LIMB ANOMALIES, AND ERYTHROID MACROCYTOSIS WITH MEGALOBLASTIC MARROW
NULL 165670 OSSIFIED EAR CARTILAGES
NULL 165680 OSSICULAR MALFORMATIONS, FAMILIAL
Percent 165700 THIEMANN DISEASE THIEMANN EPIPHYSEAL DISEASE;; OSTEOARTHROPATHY OF FINGERS, FAMILIAL
Number Sign 165720 OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1 OA;; OSTEOARTHROSIS;; OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO
Number Sign 165800 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS; SSOAOD OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS; OD
Percent 166000 ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE OLLIER DISEASE;; OSTEOCHONDROMATOSIS;; DYSCHONDROPLASIA
Number Sign 166200 OSTEOGENESIS IMPERFECTA, TYPE I; OI1 OI, TYPE I;; OSTEOGENESIS IMPERFECTA TARDA;; OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE
Number Sign 166210 OSTEOGENESIS IMPERFECTA, TYPE II; OI2 OI, TYPE II;; OSTEOGENESIS IMPERFECTA CONGENITA, PERINATAL LETHAL FORM;; OSTEOGENESIS IMPERFECTA CONGENITA; OIC;; VROLIK TYPE OF OSTEOGENESIS IMPERFECTA
Number Sign 166220 OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 OI, TYPE IV;; OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE
NULL 166230 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN BONES, BUT WITHOUT FRACTURES
Caret 166240 MOVED TO 166200
Number Sign 166250 OSTEOGLOPHONIC DYSPLASIA; OGD OSTEOGLOPHONIC DWARFISM
Number Sign 166260 GNATHODIAPHYSEAL DYSPLASIA; GDD OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS;; GNATHODIAPHYSEAL SCLEROSIS
Number Sign 166300 MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY;; MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT
Number Sign 166350 OSSEOUS HETEROPLASIA, PROGRESSIVE; POH ECTOPIC OSSIFICATION, FAMILIAL;; OSTEOMA CUTIS
NULL 166400 OSTEOMAS OF MANDIBLE
NULL 166450 OSTEOMESOPYKNOSIS AXIAL OSTEOSCLEROSIS
Asterisk 166490 SECRETED PHOSPHOPROTEIN 1; SPP1 OSTEOPONTIN; OPN;; BONE SIALOPROTEIN;; URINARY STONE PROTEIN;; EARLY T LYMPHOCYTE ACTIVATION 1; ETA1
Caret 166500 MOVED TO 300373
Number Sign 166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II;; MARBLE BONES, AUTOSOMAL DOMINANT;; OSTEOSCLEROSIS FRAGILIS GENERALISATA;; ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT
Number Sign 166700 BUSCHKE-OLLENDORFF SYNDROME; BOS DERMATOOSTEOPOIKILOSIS;; DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS;; DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS;; OSTEOPATHIA CONDENSANS DISSEMINATA OSTEOPOIKILOSIS, ISOLATED, INCLUDED;; DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED, INCLUDED;; OSTEOPOIKILOSIS WITH MELORHEOSTOSIS, INCLUDED
NULL 166705 OSTEOPOIKILOSIS AND DACRYOCYSTITIS
Number Sign 166710 OSTEOPOROSIS BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS; BMND;; OSTEOPOROSIS, POSTMENOPAUSAL;; OSTEOPOROSIS, INVOLUTIONAL FRACTURE, HIP, SUSCEPTIBILITY TO, INCLUDED
Caret 166720 MOVED TO 130720
NULL 166740 OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES CORTICAL THICKENING OF LONG BONES WITH BOWING AND ICHTHYOSIS
Number Sign 166750 OTODENTAL DYSPLASIA CHROMOSOME 11q13 DELETION SYNDROME;; OTODENTAL SYNDROME OTODENTAL SYNDROME WITH COLOBOMA, INCLUDED;; OCULOOTODENTAL SYNDROME, INCLUDED
Percent 166760 OTITIS MEDIA, SUSCEPTIBILITY TO OMS;; OTITIS MEDIA, CHRONIC/RECURRENT;; COME/ROM
Number Sign 166780 OTOFACIOCERVICAL SYNDROME 1; OTFCS OFC; OFC1
Percent 166800 OTOSCLEROSIS 1; OTSC1 OTS
Number Sign 166900 OVALOCYTOSIS, SOUTHEAST ASIAN; SAO OVALOCYTOSIS, MALAYSIAN-MELANESIAN-FILIPINO TYPE;; ELLIPTOCYTOSIS 4; EL4;; ELLIPTOCYTOSIS, STOMATOCYTIC HEREDITARY;; HE, STOMATOCYTIC
NULL 166910 OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS
Asterisk 166945 NEIGHBOR OF BRCA1 GENE 1; NBR1 MEMBRANE COMPONENT, CHROMOSOME 17, SURFACE MARKER 2; M17S2
NULL 166950 TERATOMA, OVARIAN DERMOID CYST, OVARIAN
NULL 166970 OVARIAN FIBROMATA
NULL 166990 OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION
Number Sign 167000 OVARIAN CANCER OVARIAN CANCER, EPITHELIAL, INCLUDED
Number Sign 167030 NEPHROLITHIASIS, CALCIUM OXALATE; CAON KIDNEY STONES;; UROLITHIASIS, CALCIUM OXALATE
Asterisk 167040 OXYSTEROL-BINDING PROTEIN; OSBP OSBP1
Asterisk 167050 OXYTOCIN; OXT OXYTOCIN--NEUROPHYSIN I;; OT NEUROPHYSIN I, INCLUDED;; PREPROOXYTOCIN, INCLUDED
Asterisk 167055 OXYTOCIN RECEPTOR; OXTR OTR
Percent 167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT; PHOAD PHO, AUTOSOMAL DOMINANT;; PACHYDERMOPERIOSTOSIS, AUTOSOMAL DOMINANT;; PDP, AUTOSOMAL DOMINANT
Number Sign 167200 PACHYONYCHIA CONGENITA 1; PC1 PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE, FORMERLY;; JADASSOHN-LEWANDOWSKY SYNDROME, FORMERLY
Number Sign 167210 PACHYONYCHIA CONGENITA 2; PC2 PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE, FORMERLY
NULL 167220 PACMAN DYSPLASIA EPIPHYSEAL STIPPLING WITH OSTEOCLASTIC HYPERPLASIA
Number Sign 167250 PAGET DISEASE OF BONE 3; PDB3
NULL 167300 PAGET DISEASE, EXTRAMAMMARY
Number Sign 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1; IBMPFD1 MULTISYSTEM PROTEINOPATHY 1; MSP1;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH PAGET DISEASE OF BONE;; PAGETOID AMYOTROPHIC LATERAL SCLEROSIS;; PAGETOID NEUROSKELETAL SYNDROME;; LOWER MOTOR NEURON DEGENERATION WITH PAGET-LIKE BONE DISEASE
Number Sign 167400 PAROXYSMAL EXTREME PAIN DISORDER PEXPD; PEPD;; PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING;; RECTAL PAIN, FAMILIAL
Asterisk 167405 PROPROTEIN CONVERTASE SUBTILISIN/KEXIN TYPE 6; PCSK6 PAIRED BASIC AMINO ACID CLEAVING ENZYME 4; PACE4;; SPC4
Asterisk 167409 PAIRED BOX GENE 2; PAX2
Asterisk 167410 PAIRED BOX GENE 7; PAX7 PAIRED DOMAIN GENE HuP1; HUP1 PAX7/FKHR FUSION GENE, INCLUDED
Asterisk 167411 PAIRED BOX GENE 1; PAX1 PAIRED DOMAIN GENE HuP48; HUP48
Asterisk 167413 PAIRED BOX GENE 4; PAX4 PAIRED DOMAIN GENE 4
Asterisk 167414 PAIRED BOX GENE 5; PAX5 PAIRED DOMAIN GENE 5;; B-CELL LINEAGE-SPECIFIC ACTIVATOR PROTEIN; BSAP
Asterisk 167415 PAIRED BOX GENE 8; PAX8 PAIRED DOMAIN GENE 8 PAX8/PPARG FUSION GENE, INCLUDED
Asterisk 167416 PAIRED BOX GENE 9; PAX9 PAIRED DOMAIN GENE 9
Asterisk 167420 PAIRED-RELATED HOMEOBOX GENE 1; PRRX1 PRX1;; PAIRED MESODERM HOMEOBOX 1; PMX1;; PHOX1
Percent 167500 PALATOPHARYNGEAL INCOMPETENCE VELOPHARYNGEAL INCOMPETENCE; VPI;; VELOPHARYNGEAL INSUFFICIENCY
NULL 167600 PALMARIS LONGUS MUSCLE, ABSENCE OF
NULL 167700 PALMOMENTAL REFLEX
Percent 167730 NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME; NPLCS PALPEBRAL COLOBOMA-LIPOMA SYNDROME
NULL 167750 PANCREAS, ANNULAR
NULL 167755 PANCREAS, DORSAL, AGENESIS OF
Asterisk 167770 REGENERATING ISLET-DERIVED 1-ALPHA; REG1A REGENERATING ISLET-DERIVED, RAT, HOMOLOG OF; REG;; LITHOSTATHINE;; PANCREATIC STONE PROTEIN, SECRETORY; PSPS
Asterisk 167771 REGENERATING ISLET-DERIVED 1-BETA; REG1B REG I-BETA;; REGENERATING ISLET-DERIVED, RAT, HOMOLOG-LIKE; REGL;; PANCREATIC STONE PROTEIN, SECRETORY, 2; PSPS2
Asterisk 167780 PANCREATIC POLYPEPTIDE/PANCREATIC ICOSAPEPTIDE; PPY PNP
Asterisk 167790 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 1; SPINK1 PANCREATIC SECRETORY TRYPSIN INHIBITOR; PSTI;; TUMOR-ASSOCIATED TRYPSIN INHIBITOR; TATI
Number Sign 167800 PANCREATITIS, HEREDITARY; PCTT HPC;; HP;; PANCREATITIS, CHRONIC PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO, INCLUDED;; PANCREATITIS, CALCIFIC, INCLUDED;; PANCREATITIS, CHRONIC, PROTECTION AGAINST, INCLUDED
Asterisk 167805 REGENERATING ISLET-DERIVED 3-ALPHA; REG3A PANCREATITIS-ASSOCIATED PROTEIN; PAP;; PAP1;; ISLET NEOGENESIS-ASSOCIATED PROTEIN; INGAP
NULL 167850 PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE
Percent 167870 PANIC DISORDER 1; PAND1 PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED PANIC DISORDER WITH BLADDER CONDITIONS, INCLUDED;; PANIC DISORDER WITH JOINT LAXITY, INCLUDED
Percent 167900 PAPILLOMATOSIS, CONFLUENT AND RETICULATED; CARP PAPILLOMATOSIS, RETICULATED AND CONFLUENT, OF GOUGEROT AND CARTEAUD;; PAPILLOMATOSIS, FAMILIAL CUTANEOUS
NULL 167950 PAPILLOMATOSIS, FLORID, OF NIPPLE
NULL 167959 HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1; HPV18I1 PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1
NULL 167960 HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2; HPV18I2 PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2
Number Sign 168000 PARAGANGLIOMAS 1; PGL1 PARAGANGLIOMAS, FAMILIAL, 1;; PARAGANGLIOMATA; PGL;; GLOMUS TUMORS, FAMILIAL, 1;; CHEMODECTOMAS;; CAROTID BODY TUMORS; CBT1;; GLOMUS JUGULARE TUMORS;; PARAGANGLIOMA, CAROTID BODY;; PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1 PARAGANGLIOMAS WITH SENSORINEURAL HEARING LOSS, INCLUDED
NULL 168100 PARALYSIS AGITANS, JUVENILE, OF HUNT PARKINSON DISEASE, JUVENILE, OF HUNT
NULL 168200 PARAMOLAR TUBERCLE OF BOLK BOLK CUSP
Number Sign 168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC PARALYSIS PERIODICA PARAMYOTONICA PARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS, INCLUDED
Caret 168350 MOVED TO 168300
Asterisk 168360 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4; ELAVL4 HU-ANTIGEN D; HUD;; PARANEOPLASTIC ENCEPHALOMYELITIS ANTIGEN; PNEM
Number Sign 168400 PARASTREMMATIC DWARFISM
Asterisk 168440 PARATHYMOSIN; PTMS
Asterisk 168450 PARATHYROID HORMONE; PTH PARATHYRIN;; PARATHORMONE
Caret 168460 MOVED TO 145001
Asterisk 168461 CYCLIN D1; CCND1 PARATHYROID ADENOMATOSIS 1; PRAD1;; B-CELL CLL/LYMPHOMA 1; BCL1;; B-CELL LEUKEMIA 1 CCND1/IGHG1 FUSION GENE, INCLUDED;; CCND1/PTH FUSION GENE, INCLUDED;; CCND1/IGLC1 FUSION GENE, INCLUDED;; CCND1/FSTL3 FUSION GENE, INCLUDED
Asterisk 168468 PARATHYROID HORMONE 1 RECEPTOR; PTH1R PARATHYROID HORMONE RECEPTOR 1; PTHR1;; PTH RECEPTOR; PTHR;; PARATHYROID HORMONE/PARATHYROID HORMONE-RELATED PROTEIN RECEPTOR;; PTH/PTHRP RECEPTOR
Plus 168470 PARATHYROID HORMONE-LIKE HORMONE; PTHLH PARATHYROID HORMONE-RELATED PROTEIN; PTHRP;; PTH-RELATED PROTEIN;; PTHR, FORMERLY HUMORAL HYPERCALCEMIA OF MALIGNANCY, INCLUDED; HHM, INCLUDED
Number Sign 168500 PARIETAL FORAMINA 1; PFM1 PFM;; PARIETAL FORAMINA, SYMMETRIC;; FORAMINA PARIETALIA PERMAGNA; FPP;; CATLIN MARKS;; CRANIUM BIFIDUM OCCULTUM;; CRANIUM BIFIDUM, HEREDITARY
Number Sign 168550 PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD CLEIDOCRANIAL DYSPLASIA WITH PARIETAL FORAMINA
Number Sign 168600 PARKINSON DISEASE, LATE-ONSET; PD PARK
Number Sign 168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY ATYPICAL PARKINSON DISEASE, INCLUDED
Number Sign 168605 PERRY SYNDROME PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION
Caret 168610 MOVED TO 600274
NULL 168710 PAROTID PROLINE-RICH SALIVARY PROTEIN Pc
Asterisk 168730 PROLINE-RICH PROTEIN, HaeIII SUBFAMILY, 1; PRH1 PAROTID ACIDIC PROTEIN; Pa;; ACIDIC SALIVARY PROLINE-RICH PROTEIN, HaeIII TYPE, 1 PAROTID ISOELECTRIC FOCUSING VARIANT PROTEIN, INCLUDED; PIF, INCLUDED;; PAROTID DOUBLE-BAND PROTEIN, INCLUDED; Db, INCLUDED
Asterisk 168790 PROLINE-RICH PROTEIN, HaeIII SUBFAMILY, 2; PRH2 PAROTID PROLINE-RICH PROTEIN; Pr;; ACIDIC SALIVARY PROLINE-RICH PROTEIN, HaeIII TYPE, 2
NULL 168800 PAROTIDOMEGALY, HEREDITARY BILATERAL
Asterisk 168810 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 2; PRB2 PAROTID SALIVARY PROTEIN SIZE VARIANT; Ps;; BASIC SALIVARY PROLINE-RICH PROTEIN, BstNI TYPE, 2 CON1, INCLUDED
Plus 168820 PARAOXONASE 1; PON1 PON;; PARAOXONASE, PLASMA;; ARYLESTERASE;; ESTERASE A; ESA PON1 ENZYME ACTIVITY, VARIATION IN, INCLUDED;; ORGANOPHOSPHATE POISONING, SUSCEPTIBILITY TO, INCLUDED;; CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED;; CORONARY ARTERY SPASM 2, SUSCEPTIBILITY TO, INCLUDED
NULL 168830 PASSOVOY FACTOR DEFECT
Asterisk 168840 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 3; PRB3 PAROTID SALIVARY GLYCOPROTEIN; G1;; BASIC SALIVARY PROLINE-RICH PROTEIN, BstNI TYPE, 3
Caret 168850 MOVED TO 147891
Percent 168860 PATELLA APLASIA-HYPOPLASIA; PTLAH
NULL 168885 PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA
Asterisk 168890 PARVALBUMIN; PVALB
Percent 168900 PATELLA, CHONDROMALACIA OF
Percent 169000 PATELLA, FAMILIAL RECURRENT DISLOCATION OF
Number Sign 169100 CHAR SYNDROME; CHAR PATENT DUCTUS ARTERIOSUS WITH FACIAL DYSMORPHISM AND ABNORMAL FIFTH DIGITS
Number Sign 169150 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM;; MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY;; BUTTERFLY DYSTROPHY OF RETINAL PIGMENT EPITHELIUM
NULL 169170 PATTERSON PSEUDOLEPRECHAUNISM SYNDROME
Asterisk 169190 CYCLIN-DEPENDENT KINASE 18; CDK18 PCTAIRE PROTEIN KINASE 3; PCTK3;; PCTAIRE3
NULL 169200 PECHET FACTOR DEFICIENCY DYNIA FACTOR DEFICIENCY
NULL 169300 PECTUS EXCAVATUM FUNNEL CHEST
Number Sign 169400 PELGER-HUET ANOMALY; PHA
Number Sign 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD PELIZAEUS-MERZBACHER DISEASE, AUTOSOMAL DOMINANT OR LATE-ONSET TYPE, FORMERLY
Percent 169545 PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA
NULL 169550 PELVIS-SHOULDER DYSPLASIA KOSENOW SYNDROME;; SCAPULOILIAC DYSOSTOSIS
Number Sign 169600 BENIGN CHRONIC PEMPHIGUS; BCPM PEMPHIGUS, BENIGN FAMILIAL;; HAILEY-HAILEY DISEASE; HHD
NULL 169610 PEMPHIGUS VULGARIS, FAMILIAL
Asterisk 169615 DESMOGLEIN 3; DSG3 PEMPHIGUS VULGARIS ANTIGEN; PVA
Asterisk 169700 PEPSINOGEN; PG PEPSINOGEN A; PGA;; PEPSINOGEN, GROUP I;; UROPEPSINOGEN, GROUP A
NULL 169710 PEPSINOGEN 3, GROUP I; PGA3 PEPSINOGEN I--SECOND LOCUS
Asterisk 169720 PEPSINOGEN 4, GROUP I; PGA4
Asterisk 169730 PEPSINOGEN 5, GROUP I; PGA5
Asterisk 169740 PROGASTRICSIN; PGC PEPSINOGEN C GASTRICSIN;; PEPSINOGEN, GROUP II
Asterisk 169800 PEPTIDASE A; PEPA CARNOSINASE 2; CN2;; CNDP2;; NONSPECIFIC DIPEPTIDASE, CYTOSOLIC;; CARNOSINASE, TISSUE
Asterisk 169900 PEPTIDASE B; PEPB
Asterisk 170000 PEPTIDASE C; PEPC
Number Sign 170100 PROLIDASE DEFICIENCY
Asterisk 170200 PEPTIDASE E; PEPE
Asterisk 170250 LEUCINE AMINOPEPTIDASE 3; LAP3 PEPTIDASE S; PEPS
Asterisk 170260 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX, 1; TAP1 TRANSPORTER, ABC, MHC, 1;; ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 2; ABCB2;; ATP-BINDING CASSETTE TRANSPORTER, MAJOR HISTOCOMPATIBILITY COMPLEX, 1;; ABC TRANSPORTER, MHC, 1;; PEPTIDE TRANSPORTER PSF1;; TRANSPORTER ASSOCIATED WITH ANTIGEN PROCESSING 1;; PEPTIDE SUPPLY FACTOR 1; PSF1;; ANTIGEN PEPTIDE TRANSPORTER 1; APT1;; RING4
Asterisk 170261 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX, 2; TAP2 TRANSPORTER, ABC, MHC, 2;; ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 3; ABCB3;; ATP-BINDING CASSETTE TRANSPORTER, MAJOR HISTOCOMPATIBILITY COMPLEX, 2;; ABC TRANSPORTER, MHC, 2;; RING11;; PEPTIDE SUPPLY FACTOR 2; PSF2;; PEPTIDE TRANSPORTER PSF2;; ANTIGEN PEPTIDE TRANSPORTER 2; APT2
Asterisk 170270 PEPTIDYLGLYCINE ALPHA-AMIDATING MONOOXYGENASE; PAM
Asterisk 170280 PERFORIN 1; PRF1 PFN1;; PORE-FORMING PROTEIN; PFP
Asterisk 170285 NUCLEOPORIN, 85-KD; NUP85 NUCLEOPORIN, 75-KD; NUP75;; FLJ12549;; FROUNT;; PERICENTRIN, FORMERLY; PCNT, FORMERLY
Asterisk 170290 PERILIPIN 1; PLIN1 PLIN
Caret 170300 MOVED TO 142680
Number Sign 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS ANDERSEN SYNDROME;; LONG QT SYNDROME 7; LQT7;; ANDERSEN-TAWIL SYNDROME; ATS;; PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE
Number Sign 170400 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1 HYPOKALEMIC PERIODIC PARALYSIS; HOKPP
Number Sign 170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA;; GAMSTORP DISEASE NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE, INCLUDED
NULL 170600 NORMOKALEMIC PERIODIC PARALYSIS
Number Sign 170650 PERIODONTITIS, AGGRESSIVE, 1 PERIODONTITIS, JUVENILE; JPD; JP;; PERIODONTITIS, PREPUBERTAL; PPP
NULL 170700 PERIPHERAL DYSOSTOSIS
Asterisk 170710 PERIPHERIN; PRPH
Asterisk 170715 PERIPHERAL MYELIN PROTEIN 2; PMP2 MYELIN P2 PROTEIN; MP2
NULL 170900 PERNICIOUS ANEMIA
Caret 170950 REMOVED FROM DATABASE
NULL 170980 PERONEAL NERVE, ACCESSORY DEEP
NULL 170990 PEROXIDASE, SALIVARY; SAPX
Asterisk 170993 PEROXISOME BIOGENESIS FACTOR 2; PEX2 PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3;; PEROXISOMAL MEMBRANE PROTEIN, 35-KD; PMP35;; PEROXISOMAL ASSEMBLY FACTOR 1; PAF1;; PEROXIN 2
Asterisk 170995 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3; ABCD3 PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;; PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70
Plus 170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR; PPAR HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO, INCLUDED
Percent 171000 PEYRONIE DISEASE
Asterisk 171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1 P-GLYCOPROTEIN 1; PGY1;; MULTIDRUG RESISTANCE 1; MDR1;; GP170;; DOXORUBICIN RESISTANCE
Asterisk 171060 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; ABCB4 P-GLYCOPROTEIN 3; PGY3;; MULTIDRUG RESISTANCE 3; MDR3
NULL 171100 PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN
Asterisk 171150 SULFOTRANSFERASE FAMILY 1A, CYTOSOLIC, PHENOL-PREFERRING, MEMBER 1; SULT1A1 SULFOTRANSFERASE, PHENOL-PREFERRING 1; STP1;; PHENOL SULFOTRANSFERASE, THERMOSTABLE FORM; STP;; ST1A3;; PHENOL SULFOTRANSFERASE; PPST
Asterisk 171190 PHENYLETHANOLAMINE N-METHYLTRANSFERASE; PNMT PENT
Number Sign 171200 THIOUREA TASTING PHENYLTHIOCARBAMIDE TASTING, INCLUDED;; PTC TASTING, INCLUDED;; PROPYLTHIOURACIL TASTING, INCLUDED;; PROP TASTING, INCLUDED
Number Sign 171300 PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
Caret 171350 MOVED TO 115310
Number Sign 171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A PHEOCHROMOCYTOMA AND AMYLOID-PRODUCING MEDULLARY THYROID CARCINOMA;; PTC SYNDROME;; SIPPLE SYNDROME THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED
NULL 171420 PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME
NULL 171450 PHLEBECTASIA OF LIPS
NULL 171480 PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA FACIOAURICULORADIAL DYSPLASIA
Asterisk 171490 PHOSDUCIN; PDC
Asterisk 171500 ACID PHOSPHATASE 1, SOLUBLE; ACP1 PHOSPHATASE, ACID, OF ERYTHROCYTE
Asterisk 171640 PHOSPHATASE, ACID, TYPE 5, TARTRATE-RESISTANT; ACP5 TARTRATE-RESISTANT ACID PHOSPHATASE; TRAP
Asterisk 171650 ACID PHOSPHATASE 2, LYSOSOMAL; ACP2 PHOSPHATASE, ACID, OF TISSUES;; LYSOSOMAL ACID PHOSPHATASE;; ACP2--BETA POLYPEPTIDE
NULL 171660 PHOSPHATASE, ACID, OF TISSUES LYSOSOMAL ACID PHOSPHATASE;; ACP3--ALPHA POLYPEPTIDE
Caret 171700 REMOVED FROM DATABASE
Percent 171720 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 ALPQTL1;; ALKALINE PHOSPHATASE, ELEVATED SERUM;; HYPERPHOSPHATASEMIA, BENIGN FAMILIAL
Asterisk 171740 ALKALINE PHOSPHATASE, INTESTINAL; ALPI IAP
Asterisk 171750 ALKALINE PHOSPHATASE, INTESTINAL, FETAL FORM ALPIF
Asterisk 171760 ALKALINE PHOSPHATASE, LIVER; ALPL ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;; ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP
Asterisk 171790 PHOSPHATASE, PROSTATE-SPECIFIC ACID; ACPP PROSTATIC ACID PHOSPHATASE; PAP
Asterisk 171800 ALKALINE PHOSPHATASE, PLACENTAL; ALPP PLAP; PALP;; REGAN ISOZYME SECRETED ALKALINE PHOSPHATASE, INCLUDED; SEAP, INCLUDED;; ALKALINE PHOSPHATASE, SECRETED, INCLUDED
Asterisk 171810 ALKALINE PHOSPHATASE, PLACENTAL-LIKE 2; ALPPL2 ALKALINE PHOSPHATASE, GERM CELL; ALPG; GCAP;; ALKALINE PHOSPHATASE, TESTICULAR AND THYMUS;; NAGAO ISOENZYME
Asterisk 171820 PHOSPHATASE, SALIVARY ACID, A; SACP; ACPS
Asterisk 171830 PHOSPHATASE, SALIVARY ACID, B
Asterisk 171833 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 1; PIK3R1 PHOSPHATIDYLINOSITOL 3-KINASE-ASSOCIATED p85-ALPHA; GRB1;; PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT, 85-KD, ALPHA;; p85-ALPHA
Asterisk 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, 110-KD, ALPHA;; p110-ALPHA;; PI3K-ALPHA;; PIK3-ALPHA
Asterisk 171835 6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 2; PFKFB2 PFKFB, CARDIAC
Asterisk 171840 PHOSPHOFRUCTOKINASE, PLATELET TYPE; PFKP PFK, PLATELET TYPE;; PFK, FIBROBLAST TYPE; PFKF
Caret 171850 MOVED TO 171860 AND 610681
Asterisk 171860 PHOSPHOFRUCTOKINASE, LIVER TYPE; PFKL PFK, LIVER TYPE
Caret 171880 MOVED TO 610681
Asterisk 171885 PHOSPHODIESTERASE 7A, cAMP-SPECIFIC, HIGH AFFINITY; PDE7A PDE1/PDE2, YEAST, HUMAN COMPLEMENT OF; HCP1
Asterisk 171890 PHOSPHODIESTERASE 1A; PDE1A HCAM1
Asterisk 171891 PHOSPHODIESTERASE 1B; PDE1B PDE1B1
Asterisk 171900 PHOSPHOGLUCOMUTASE 1; PGM1
Asterisk 172000 PHOSPHOGLUCOMUTASE 2; PGM2
Asterisk 172100 PHOSPHOGLUCOMUTASE 3; PGM3 N-ACETYLGLUCOSAMINE-PHOSPHATE MUTASE 1; AGM1
NULL 172110 PHOSPHOGLUCOMUTASE 4 PGM4;; MILK PGM
Percent 172150 6-PHOSPHOGLUCONOLACTONASE DEFICIENCY PGLS DEFICIENCY;; 6PGL DEFICIENCY
Asterisk 172200 6-PHOSPHOGLUCONATE DEHYDROGENASE, ERYTHROCYTE; PGD PGD, ERYTHROCYTE; 6PGD
Asterisk 172250 PHOSPHOGLYCERATE MUTASE 1; PGAM1 PHOSPHOGLYCERATE MUTASE A; PGAMA;; PHOSPHOGLYCERATE MUTASE, BRAIN; PGAMB
Asterisk 172270 PHOSPHOGLYCERATE KINASE 2; PGK2 PHOSPHOGLYCERATE KINASE OF SPERMATOZOA; PGKB;; PGK, TESTICULAR
Asterisk 172280 PHOSPHOGLYCOLATE PHOSPHATASE; PGP
NULL 172290 PHOSPHOGLYCOPROTEIN 1; PGP1
Caret 172300 MOVED TO 171860
Asterisk 172400 GLUCOSE-6-PHOSPHATE ISOMERASE; GPI GLUCOSE PHOSPHATE ISOMERASE;; PHOSPHOHEXOSE ISOMERASE; PHI;; PHOSPHOGLUCOSE ISOMERASE; PGI;; AUTOCRINE MOTILITY FACTOR; AMF;; NEUROLEUKIN; NLK
Asterisk 172405 PHOSPHOLAMBAN; PLN
Asterisk 172410 PHOSPHOLIPASE A2, GROUP IB; PLA2G1B PHOSPHOLIPASE A2, PANCREATIC;; PHOSPHOLIPASE A2 POLYPEPTIDE A; PLA2A;; PLA2
Asterisk 172411 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A PHOSPHOLIPASE A2, SYNOVIAL; PLA2S; PLAS1;; PHOSPHOLIPASE A2 POLYPEPTIDE B; PLA2B;; MODIFIER OF MIN-1, MOUSE, HOMOLOG OF; MOM1
Asterisk 172420 PHOSPHOLIPASE C, GAMMA-1; PLCG1 PLC1;; PHOSPHOLIPASE C-148; PLC148
Plus 172425 PHOSPHOLIPID TRANSFER PROTEIN; PLTP LIPID TRANSFER PROTEIN II HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 9, INCLUDED; HDLCQ9, INCLUDED
Asterisk 172430 ENOLASE 1; ENO1 ENOLASE, ALPHA;; PHOSPHOPYRUVATE HYDRATASE; PPH CRYSTALLIN, TAU, INCLUDED;; ENOLASE, NONNEURONAL, INCLUDED; NNE, INCLUDED
Asterisk 172439 PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE; PAICS AIR CARBOXYLASE; AIRC;; SAICAR SYNTHETASE
Asterisk 172450 PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE; PPAT GLUTAMINE PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE; GPAT
Asterisk 172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1 METHYLENETETRAHYDROFOLATE DEHYDROGENASE/METHENYLTETRAHYDROFOLATE CYCLOHYDROLASE/FORMYLTETRAHYDROFOLATE SYNTHETASE, NADP(+)-DEPENDENT;; CYCLOHYDROLASE/FORMYLTETRAHYDROFOLATE SYNTHETASE, NADP(+)-DEPENDENT;; C1-TETRAHYDROFOLATE SYNTHASE, CYTOPLASMIC;; C1-THF-SYNTHASE
Asterisk 172470 PHOSPHORYLASE KINASE, MUSCLE, GAMMA-1; PHKG1
Asterisk 172471 PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2
Asterisk 172480 PHOSPHOSERINE PHOSPHATASE; PSPH PSP
Asterisk 172490 PHOSPHORYLASE KINASE, BETA SUBUNIT; PHKB
NULL 172500 PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL DYSFUNCTION HERRMANN SYNDROME
Number Sign 172700 PICK DISEASE OF BRAIN LOBAR ATROPHY OF BRAIN;; DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS
Number Sign 172800 PIEBALD TRAIT; PBT PIEBALDISM
NULL 172850 PIEBALD TRAIT WITH NEUROLOGIC DEFECTS
Asterisk 172860 SERPIN PEPTIDASE INHIBITOR, CLADE F, MEMBER 1; SERPINF1 PIGMENT EPITHELIUM-DERIVED FACTOR; PEDF
Number Sign 172870 PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA
NULL 172880 PIERRE ROBIN SYNDROME AND OLIGODACTYLY ROBIN SEQUENCE AND OLIGODACTYLY
Percent 172900 PIGMENTED PURPURIC ERUPTION
NULL 173000 PILONIDAL SINUS
Number Sign 173100 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II; IGHD2 IGHD II;; GROWTH HORMONE DEFICIENCY, ISOLATED, AUTOSOMAL DOMINANT;; PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT
Asterisk 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1 PITUITARY-SPECIFIC TRANSCRIPTION FACTOR 1; PIT1;; GROWTH HORMONE FACTOR 1; GHF1
Asterisk 173120 SECRETORY GRANULE NEUROENDOCRINE PROTEIN 1; SGNE1 PITUITARY POLYPEPTIDE 7B2; P7B2;; SECRETOGRANIN V
Number Sign 173200 PITYRIASIS RUBRA PILARIS; PRP
Asterisk 173310 PROGESTAGEN-ASSOCIATED ENDOMETRIAL PROTEIN; PAEP PROGESTAGEN-DEPENDENT ENDOMETRIAL PROTEIN;; PREGNANCY-ASSOCIATED ENDOMETRIAL ALPHA-2-GLOBULIN;; PLACENTAL PROTEIN 14; PP14;; GLYCODELIN-A; GdA;; GLYCODELIN-S; GdS BETA-LACTOGLOBULIN, INCLUDED
Asterisk 173320 RIBONUCLEASE/ANGIOGENIN INHIBITOR 1; RNH1 RNH;; RIBONUCLEASE INHIBITOR; RI;; PLACENTAL RIBONUCLEASE INHIBITOR; PRI;; CYTOSOLIC RIBONUCLEASE INHIBITOR; CRI
Asterisk 173321 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 6; SERPINB6 PROTEASE INHIBITOR 6; PI6;; PLACENTAL THROMBIN INHIBITOR; PTI;; SPI3, MOUSE, HOMOLOG OF; SPI3
Asterisk 173325 JUNCTION PLAKOGLOBIN; JUP PLAKOGLOBIN; PKGB;; DESMOPLAKIN III; DP3;; DP III;; CATENIN, GAMMA
Asterisk 173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1 PHOSPHODIESTERASE I/NUCLEOTIDE PYROPHOSPHATASE 1; PDNP1;; PLASMA CELL MEMBRANE GLYCOPROTEIN PC-1; PC1;; PCA1;; MEMBRANE COMPONENT, CHROMOSOME 6, SURFACE MARKER 1; M6S1;; LY41, MOUSE, HOMOLOG OF;; ALKALINE PHOSPHODIESTERASE I;; NUCLEOTIDE PYROPHOSPHATASE; NPPS
Asterisk 173340 PLASMINOGEN-LIKE B1; PLGLB1 PLASMINOGEN-RELATED GENE B; PRGB
Asterisk 173350 PLASMINOGEN; PLG ANGIOSTATIN, INCLUDED;; MICROPLASMIN, INCLUDED
Asterisk 173360 SERPIN PEPTIDASE INHIBITOR, CLADE E (NEXIN, PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1), MEMBER 1; SERPINE1 PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1;; ENDOTHELIAL PLASMINOGEN ACTIVATOR INHIBITOR
Asterisk 173370 PLASMINOGEN ACTIVATOR, TISSUE; PLAT TPA
Asterisk 173390 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 2; SERPINB2 PLASMINOGEN ACTIVATOR INHIBITOR, TYPE 2; PAI2;; PLANH2;; MONOCYTE ARGININE-SERPIN;; MONOCYTE-DERIVED PLASMINOGEN ACTIVATOR INHIBITOR;; UROKINASE INHIBITOR
Asterisk 173391 PLASMINOGEN ACTIVATOR RECEPTOR, UROKINASE-TYPE; PLAUR UPA RECEPTOR; UPAR;; CD87 ANTIGEN; CD87
Asterisk 173393 PLATELET-ACTIVATING FACTOR RECEPTOR; PTAFR PAFR
NULL 173395 PLATELET ADENYLATE CYCLASE ACTIVITY
NULL 173400 PLATELET AGGREGATION, SPONTANEOUS
Asterisk 173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB PDGFR;; PDGFR1 PDGFRB/ETV6 FUSION GENE, INCLUDED;; PDGFRB/D10S170 FUSION GENE, INCLUDED;; PDGFRB/RABPT5 FUSION GENE, INCLUDED;; PDGFRB/HIP1 FUSION GENE, INCLUDED;; PDGFRB/MYO18A FUSION GENE, INCLUDED
NULL 173420 PLATELET DISORDER, UNDEFINED
Asterisk 173430 PLATELET-DERIVED GROWTH FACTOR, ALPHA POLYPEPTIDE; PDGFA PLATELET-DERIVED GROWTH FACTOR, A CHAIN
Asterisk 173445 PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1; PECAM1 CD31
NULL 173450 PLATELET FACTOR 3 DEFICIENCY
Asterisk 173460 PLATELET FACTOR 4; PF4 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 4; SCYB4;; CHEMOKINE, CXC MOTIF, LIGAND 4; CXCL4
Asterisk 173461 PLATELET FACTOR 4, VARIANT 1; PF4V1 PLATELET FACTOR 4-ALTERNATE; PF4A;; PF4-ALT;; CXCL4-LIKE 1; CXCL4L1;; CXCL4 VARIANT 1; CXCL4V1
Plus 173470 INTEGRIN, BETA-3; ITGB3 PLATELET GLYCOPROTEIN IIIa; GP3A;; GP IIIa;; PLATELET FIBRINOGEN RECEPTOR, BETA SUBUNIT;; CD61 THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED; NAIT, INCLUDED;; POSTTRANSFUSION PURPURA, INCLUDED; PTP, INCLUDED
Asterisk 173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA PDGFR2 PDGFRA/BCR FUSION GENE, INCLUDED;; PDGFRA/FIP1L1 FUSION GENE, INCLUDED
Percent 173500 PLATELET GROUPS--Ko SYSTEM; HPA-2 SIB(a), INCLUDED
Asterisk 173510 CD36 ANTIGEN; CD36 LEUKOCYTE DIFFERENTIATION ANTIGEN CD36;; PLATELET GLYCOPROTEIN IV; GP4;; GLYCOPROTEIN IIIb; GP3B;; GP IIIb;; THROMBOSPONDIN RECEPTOR;; COLLAGEN RECEPTOR, PLATELET;; FATTY ACID TRANSLOCASE; FAT
Asterisk 173511 GLYCOPROTEIN V, PLATELET; GP5 PLATELET GLYCOPROTEIN V;; GP V
Asterisk 173515 GLYCOPROTEIN IX, PLATELET; GP9 PLATELET GLYCOPROTEIN IX;; GP IX
Percent 173540 PLATELET GROUPS--Pl(E) SYSTEM
NULL 173560 PLATELET MEMBRANE FLUIDITY; PMF
Asterisk 173570 PLECKSTRIN; PLEK PLATELET P47;; PLATELET AND LEUKOCYTE C KINASE SUBSTRATE
NULL 173580 PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED
NULL 173590 PLATELET SIGNAL PROCESSING DEFECT
Number Sign 173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS PSP
Asterisk 173610 SELECTIN P; SELP PLATELET ALPHA-GRANULE MEMBRANE PROTEIN;; CD62;; GRANULOCYTE MEMBRANE PROTEIN; GRMP;; GMP140;; P-SELECTIN
Number Sign 173650 KINDLER SYNDROME; KNDLRS POIKILODERMA, HEREDITARY ACROKERATOTIC;; BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARY;; POIKILODERMA, CONGENITAL, WITH BULLAE, WEARY TYPE
NULL 173700 POIKILODERMA, HEREDITARY SCLEROSING
Caret 173750 MOVED TO 173800 AND 157900
Percent 173800 POLAND SYNDROME POLAND SYNDACTYLY;; POLAND ANOMALY;; POLAND SEQUENCE PECTORALIS MUSCLE, ABSENCE OF, INCLUDED
Asterisk 173850 POLIOVIRUS RECEPTOR; PVR PVS;; CD155;; NECTIN-LIKE PROTEIN 5; NECL5
Caret 173865 MOVED TO 604680
Asterisk 173870 POLY(ADP-RIBOSE) POLYMERASE 1; PARP1 POLY(ADP-RIBOSE) POLYMERASE; PPOL; PARP;; POLY(ADP-RIBOSE) SYNTHETASE;; ADP-RIBOSYLTRANSFERASE; ADPRT;; ADPRT1
Caret 173871 MOVED TO 173870
Asterisk 173880 POLYMERIC IMMUNOGLOBULIN RECEPTOR; PIGR POLY-Ig RECEPTOR;; TRANSMEMBRANE SECRETORY COMPONENT
Number Sign 173900 POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD1 POLYCYSTIC KIDNEY DISEASE, ADULT; ADPKD;; POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I; APKD1;; POTTER TYPE III POLYCYSTIC KIDNEY DISEASE, FORMERLY
Asterisk 173910 POLYCYSTIN 2; PKD2 PKD2 GENE;; PC2;; TRPP2
Number Sign 174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1 MCKD;; MEDULLARY CYSTIC KIDNEY DISEASE, AUTOSOMAL DOMINANT; ADMCKD1;; POLYCYSTIC KIDNEYS, MEDULLARY TYPE
Number Sign 174050 POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS; PCLD1
Caret 174100 MOVED TO 192350
Number Sign 174200 POLYDACTYLY, POSTAXIAL, TYPE A1; PAPA1 POSTAXIAL POLYDACTYLY, TYPE A; PAPA;; POLYDACTYLY, POSTAXIAL POSTAXIAL POLYDACTYLY, TYPE B, INCLUDED; PAPB, INCLUDED
Number Sign 174300 OROFACIODIGITAL SYNDROME V; OFD5 OFDS V;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE V;; OROFACIODIGITAL SYNDROME, THURSTON TYPE;; THURSTON SYNDROME;; POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP
NULL 174310 POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA POLYDACTYLY-MYOPIA SYNDROME; PMS
Percent 174400 POLYDACTYLY, PREAXIAL I THUMB POLYDACTYLY THENAR HYPOPLASIA, INCLUDED;; FROMONT ANOMALY, INCLUDED
Number Sign 174500 POLYDACTYLY, PREAXIAL II; PPD2 POLYDACTYLY OF TRIPHALANGEAL THUMB;; TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY, INCLUDED;; TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, INCLUDED;; TPT-PS SYNDROME, INCLUDED;; TRIPHALANGEAL THUMB, INCLUDED; TPT, INCLUDED
Percent 174600 POLYDACTYLY, PREAXIAL III INDEX FINGER POLYDACTYLY
Number Sign 174700 POLYDACTYLY, PREAXIAL IV POLYSYNDACTYLY, UNCOMPLICATED CROSSED POLYDACTYLY, TYPE I, INCLUDED; CP1, INCLUDED
NULL 174750 POLYKARYOCYTOSIS INDUCER; FUSE
Asterisk 174760 POLYMERASE, DNA, BETA; POLB
Asterisk 174761 POLYMERASE (DNA-DIRECTED), DELTA 1, CATALYTIC SUBUNIT; POLD1 POLYMERASE, DNA, DELTA; POLD
Asterisk 174762 POLYMERASE, DNA, EPSILON; POLE POLYMERASE, DNA, EPSILON-1; POLE1
Asterisk 174763 POLYMERASE, DNA, GAMMA; POLG POLYMERASE, DNA, GAMMA-1; POLG1;; POLG, CATALYTIC SUBUNIT;; POLG-ALPHA; POLGA
Percent 174770 ACTINIC PRURIGO POLYMORPHIC LIGHT ERUPTION, HEREDITARY; HPLE JUVENILE SPRING ERUPTION OF EARS, INCLUDED
Number Sign 174800 MCCUNE-ALBRIGHT SYNDROME; MAS ALBRIGHT SYNDROME POLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED; PFD, INCLUDED; POFD, INCLUDED
Number Sign 174810 FAMILIAL EXPANSILE OSTEOLYSIS; FEO POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE; HEPOD;; MCCABE DISEASE;; EXPANSILE OSTEOLYSIS, FAMILIAL; EOF
Asterisk 174880 LYMPHOCYTE CYTOSOL POLYPEPTIDE, 100-KD LCP100;; CP100;; POLYPEPTIDE OF LYMPHOCYTE CYTOSOL, 100-KD; P0TLC100
Number Sign 174900 JUVENILE POLYPOSIS SYNDROME; JPS POLYPOSIS, JUVENILE INTESTINAL; PJI;; JUVENILE INTESTINAL POLYPOSIS; JIP;; POLYPOSIS, FAMILIAL, OF ENTIRE GASTROINTESTINAL TRACT JUVENILE POLYPOSIS OF STOMACH, INCLUDED;; JUVENILE POLYPOSIS COLI, INCLUDED
Caret 175000 MOVED TO 174900
Percent 175020 POLYPOSIS, GASTRIC
Number Sign 175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT JP/HHT SYNDROME;; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;; JPS/HHT;; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;; POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION
Number Sign 175100 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 ADENOMATOUS POLYPOSIS OF THE COLON; APC;; FAMILIAL POLYPOSIS OF THE COLON; FPC;; POLYPOSIS, ADENOMATOUS INTESTINAL GARDNER SYNDROME, INCLUDED; GS, INCLUDED;; BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED; BTPS2, INCLUDED;; FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED, INCLUDED; AFAP, INCLUDED;; ADENOMATOUS POLYPOSIS COLI, ATTENUATED, INCLUDED; AAPC, INCLUDED
Number Sign 175200 PEUTZ-JEGHERS SYNDROME; PJS POLYPOSIS, HAMARTOMATOUS INTESTINAL;; POLYPS-AND-SPOTS SYNDROME
NULL 175400 POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE POLYPS, SCATTERED, DISCRETE INTESTINAL
NULL 175450 POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES
NULL 175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES CRONKHITE-CANADA SYNDROME
NULL 175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI FUNDIC GLAND POLYPOSIS
NULL 175510 POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL
Percent 175690 POLYSYNDACTYLY, CROSSED
Number Sign 175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE
NULL 175750 POPLITEAL CYST BAKER CYST
Number Sign 175780 PORENCEPHALY 1; POREN1 HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1; T1P;; PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT; ADT1P
Number Sign 175800 POROKERATOSIS 1, MULTIPLE TYPES; POROK1 POROKERATOSIS OF MIBELLI
Percent 175850 POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE; POROK2 POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED; PPPD;; POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED, 1; PPPD1;; POROKERATOSIS PLANTARIS PALMARIS ET DISSEMINATA;; POROKERATOSIS PALMARIS ET PLANTARIS DISSEMINATA
Percent 175860 PALMOPLANTAR KERATODERMA, PUNCTATE TYPE II; PPKP2 POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS; PPPP
Number Sign 175900 POROKERATOSIS 3, MULTIPLE TYPES; POROK3 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; DSAP1
Number Sign 176000 PORPHYRIA, ACUTE INTERMITTENT; AIP PORPHYRIA, SWEDISH TYPE;; PORPHOBILINOGEN DEAMINASE DEFICIENCY;; PBGD DEFICIENCY;; UROPORPHYRINOGEN SYNTHASE DEFICIENCY;; UPS DEFICIENCY PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, INCLUDED;; PORPHYRIA, CHESTER TYPE, INCLUDED; PORC, INCLUDED
Caret 176010 MOVED TO 176000
NULL 176090 PORPHYRIA CUTANEA TARDA, TYPE I PCT, TYPE I;; PCT, 'SPORADIC' TYPE
Number Sign 176100 PORPHYRIA CUTANEA TARDA PCT;; PORPHYRIA CUTANEA TARDA, TYPE II;; PCT, TYPE II;; PCT, 'FAMILIAL' TYPE;; PORPHYRIA, HEPATOCUTANEOUS TYPE;; UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY;; UROD DEFICIENCY PORPHYRIA, HEPATOERYTHROPOIETIC, INCLUDED; HEP, INCLUDED
Number Sign 176200 PORPHYRIA VARIEGATA VARIEGATE PORPHYRIA; VP;; PORPHYRIA, SOUTH AFRICAN TYPE;; PROTOPORPHYRINOGEN OXIDASE DEFICIENCY;; PPOX DEFICIENCY VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT, INCLUDED
NULL 176240 POSTAXIAL OLIGODACTYLY, TETRAMELIC
NULL 176250 POSTERIOR COLUMN ATAXIA BIEMOND ATAXIA
Asterisk 176256 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 2; KCNC2
Asterisk 176257 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 6; KCNA6 HBK2
Asterisk 176258 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 1; KCNC1 KV3.1;; NGK2
Asterisk 176260 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 1; KCNA1 MK1, MOUSE, HOMOLOG OF;; KV1.1
Asterisk 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1; KCNE1 ISK;; MINIMAL POTASSIUM ION CHANNEL; MINK
Asterisk 176262 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 2; KCNA2 MK2, MOUSE, HOMOLOG OF;; KV1.2
Asterisk 176263 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 3; KCNA3 MK3, MOUSE, HOMOLOG OF;; POTASSIUM CHANNEL 3; PCN3;; KV1.3
Asterisk 176264 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 3; KCNC3
Asterisk 176265 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 4; KCNC4
Asterisk 176266 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 4; KCNA4 POTASSIUM CHANNEL, FETAL SKELETAL MUSCLE;; POTASSIUM CHANNEL, TYPE A;; POTASSIUM CHANNEL, RAPIDLY INACTIVATING;; POTASSIUM CHANNEL, CARDIAC;; POTASSIUM CHANNEL 2; PCN2;; HK1
Asterisk 176267 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 5; KCNA5 POTASSIUM CHANNEL 1; PCN1;; POTASSIUM CHANNEL, INSULINOMA AND ISLET CELL;; HCK1;; HK2
Asterisk 176268 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 7; KCNA7
Caret 176269 MOVED TO 176266
Number Sign 176270 PRADER-WILLI SYNDROME; PWS PRADER-LABHART-WILLI SYNDROME PRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED;; PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, INCLUDED
Asterisk 176290 DELTA, DROSOPHILA, HOMOLOG-LIKE 1; DLK1 PREADIPOCYTE FACTOR 1; PREF1;; FETAL ANTIGEN 1; FA1;; pG2
Asterisk 176300 TRANSTHYRETIN; TTR PREALBUMIN, THYROXINE-BINDING; TBPA;; PALB
Number Sign 176305 PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS GUTTMACHER SYNDROME
Asterisk 176310 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 1; PBX1 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR PSEUDOGENE 1, INCLUDED; PBXP1, INCLUDED;; PBX1/E2A FUSION GENE, INCLUDED
Asterisk 176311 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 2; PBX2 HOMEOBOX 12; HOX12
Asterisk 176312 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 3; PBX3
Asterisk 176385 PREGNANCY-ASSOCIATED PLASMA PROTEIN A; PAPPA IGFBP4 PROTEASE;; DIFFERENTIALLY EXPRESSED IN PLACENTA 1; DIPLA1
Asterisk 176390 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1; PSG1 PSBG1;; PSGGA;; B1G1
Asterisk 176391 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 2; PSG2 PSBG2;; PSGGB
Asterisk 176392 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 3; PSG3
Asterisk 176393 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 4; PSG4
Asterisk 176394 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 5; PSG5
Asterisk 176395 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 6; PSG6
Asterisk 176396 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 7; PSG7
Asterisk 176397 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 8; PSG8
Asterisk 176398 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 9; PSG9 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 11, FORMERLY; PSG11, FORMERLY
Asterisk 176399 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 10; PSG10 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 12, FORMERLY; PSG12, FORMERLY
Number Sign 176400 PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1
Asterisk 176401 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 11; PSG11 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 13, FORMERLY; PSG13, FORMERLY
Number Sign 176410 PRECOCIOUS PUBERTY, MALE-LIMITED SEXUAL PRECOCITY, FAMILIAL, GONADOTROPIN-INDEPENDENT;; TESTOTOXICOSIS, FAMILIAL LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY, INCLUDED
Asterisk 176420 PREGNANCY ZONE PROTEIN; PZP COMPLEMENT COMPONENT 3- AND PREGNANCY ZONE PROTEIN-LIKE ALPHA-2-MACROGLOBULIN DOMAIN-CONTAINING PROTEIN 6; CPAMD6;; C3- AND PZP-LIKE ALPHA-2-MACROGLOBULIN DOMAIN-CONTAINING PROTEIN 6
Number Sign 176430 PREMATURE CHROMATID SEPARATION TRAIT; PCS TOTAL PREMATURE CHROMATID SEPARATION TRAIT
Caret 176440 MOVED TO 311360
Number Sign 176450 CURRARINO SYNDROME CURRARINO TRIAD SACRAL AGENESIS SYNDROME, INCLUDED;; SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION, INCLUDED;; SCRA1, INCLUDED
Number Sign 176500 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 DEMENTIA, FAMILIAL BRITISH; FBD;; PRESENILE DEMENTIA WITH SPASTIC ATAXIA;; CEREBRAL AMYLOID ANGIOPATHY, BRITISH TYPE
Asterisk 176590 PROFILIN 2; PFN2
NULL 176600 PRESENILE DEMENTIA, KRAEPELIN TYPE
Asterisk 176610 PROFILIN 1; PFN1
NULL 176620 PRIAPISM, FAMILIAL IDIOPATHIC
NULL 176630 PRIMARY RELEASE DISORDER OF PLATELETS
Asterisk 176635 PRIMASE POLYPEPTIDE 1; PRIM1 PRIMASE, p49 SUBUNIT;; PRIMASE, p48 SUBUNIT
Asterisk 176636 PRIMASE POLYPEPTIDE 2A; PRIM2A PRIM2;; PRIMASE, p58 SUBUNIT
Asterisk 176640 PRION PROTEIN; PRNP PRP;; PRION-RELATED PROTEIN; PRIP
Number Sign 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS PROGERIA PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
Caret 176680 MOVED TO 142880
Percent 176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI MULVIHILL-SMITH SYNDROME
Percent 176700 PROGNATHISM, MANDIBULAR 'HABSBURG JAW';; 'HAPSBURG JAW'
Asterisk 176705 PROHIBITIN; PHB PHB1
Asterisk 176710 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT, ISOFORM 1; P4HA1 PROLYL 4-HYDROXYLASE, ALPHA-1 SUBUNIT;; PROLYL 4-HYDROXYLASE, ALPHA SUBUNIT; P4HA
Asterisk 176720 PROLACTIN-INDUCIBLE PROTEIN; PIP GROSS CYSTIC DISEASE FLUID PROTEIN;; GCDFP-15
Asterisk 176730 INSULIN; INS PROINSULIN INS-IGF2 SPLICED READ-THROUGH TRANSCRIPTS, INCLUDED; INSIGF, INCLUDED
Asterisk 176740 PROLIFERATING CELL NUCLEAR ANTIGEN; PCNA DNA POLYMERASE DELTA AUXILIARY PROTEIN
Asterisk 176741 PROLIFERATION-RELATED Ki-67 ANTIGEN; MKI67 ANTIGEN IDENTIFIED BY MONOCLONAL ANTIBODY Ki-67; KIA;; KI67
Asterisk 176760 PROLACTIN; PRL
Asterisk 176761 PROLACTIN RECEPTOR; PRLR
Asterisk 176763 PEROXIREDOXIN 1; PRDX1 PRXI;; PROLIFERATION-ASSOCIATED GENE A; PAGA;; NATURAL KILLER-ENHANCING FACTOR A; NKEFA
NULL 176770 PROLINE-NEGATIVE AUXOTROPH OF HAMSTER, COMPLEMENTATION OF; PROA
Percent 176780 PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO PROLAPSE OF VAGINA AND RECTUM;; RECTAL PROLAPSE;; VAGINAL PROLAPSE PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 1, INCLUDED; PVOP1, INCLUDED
Asterisk 176785 PROLYLCARBOXYPEPTIDASE; PRCP PCP;; ANGIOTENSINASE C
Asterisk 176790 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, BETA SUBUNIT; P4HB PROLYL 4-HYDROXYLASE, BETA SUBUNIT;; PHDB; PROHB; PO4HB;; DISULFIDE ISOMERASE; DSI;; PROTEIN DISULFIDE ISOMERASE/OXIDOREDUCTASE; PDI;; PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 1; PDIA1;; THYROID HORMONE-BINDING PROTEIN p55, CELLULAR;; GLUTATHIONE-INSULIN TRANSHYDROGENASE; GIT
Asterisk 176793 PRO-MELANIN-CONCENTRATING HORMONE-LIKE 1, PSEUDOGENE; PMCHL1
Asterisk 176794 PRO-MELANIN-CONCENTRATING HORMONE-LIKE 2, PSEUDOGENE; PMCHL2
Asterisk 176795 PRO-MELANIN-CONCENTRATING HORMONE; PMCH MELANIN-CONCENTRATING HORMONE; MCH
Asterisk 176797 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 16; ZBTB16 ZINC FINGER PROTEIN 145; ZNF145;; PROMYELOCYTIC LEUKEMIA ZINC FINGER; PLZF PLZF/RARA FUSION GENE, INCLUDED
NULL 176800 PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF
Asterisk 176801 PROSAPOSIN; PSAP SPHINGOLIPID ACTIVATOR PROTEIN 1, FORMERLY; SAP1, FORMERLY;; SPHINGOLIPID ACTIVATOR PROTEIN 2, FORMERLY; SAP2, FORMERLY SAPOSIN A, INCLUDED; SAPA, INCLUDED;; SAPOSIN B, INCLUDED; SAPB, INCLUDED;; SAPOSIN C, INCLUDED; SAPC, INCLUDED;; SAPOSIN D, INCLUDED; SAPD, INCLUDED
Asterisk 176802 PROSTAGLANDIN E RECEPTOR 1, EP1 SUBTYPE; PTGER1
Asterisk 176803 PROSTAGLANDIN D2 SYNTHASE, BRAIN; PTGDS PGD2 SYNTHASE; PGDS2; PDS;; BETA-TRACE;; LIPOCALIN-TYPE PROSTAGLANDIN D SYNTHASE; LPGDS;; PROSTAGLANDIN D SYNTHASE, LIPOCALIN-TYPE
Asterisk 176804 PROSTAGLANDIN E RECEPTOR 2, EP2 SUBTYPE; PTGER2
Asterisk 176805 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1; PTGS1 CYCLOOXYGENASE 1; COX1;; PROSTAGLANDIN G/H SYNTHASE 1; PGHS1 CYCLOOXYGENASE 3, INCLUDED; COX3, INCLUDED;; PARTIAL COX1 PROTEINS, INCLUDED; PCOX1, INCLUDED
Asterisk 176806 PROSTAGLANDIN E RECEPTOR 3, EP3 SUBTYPE; PTGER3
Number Sign 176807 PROSTATE CANCER
Asterisk 176820 KALLIKREIN-RELATED PEPTIDASE 3; KLK3 KALLIKREIN 3;; ANTIGEN, PROSTATE-SPECIFIC; APS;; PROSTATE-SPECIFIC ANTIGEN; PSA
Asterisk 176830 PROOPIOMELANOCORTIN; POMC POC;; PRO-ACTH-ENDORPHIN MELANOTROPIN, INCLUDED;; MELANOCYTE-STIMULATING HORMONE, INCLUDED;; LIPOTROPIN, INCLUDED
Asterisk 176842 PROTEASOME SUBUNIT, ALPHA-TYPE, 2; PSMA2 HC3;; PSC2
Asterisk 176843 PROTEASOME SUBUNIT, ALPHA-TYPE, 3; PSMA3 HC8;; PSC3
Asterisk 176844 PROTEASOME SUBUNIT, ALPHA-TYPE, 5; PSMA5 PROTEASOME COMPONENT 5; PSC5;; PROTEASOME SUBUNIT ZETA
Asterisk 176845 PROTEASOME COMPONENT 8; PSC8
Asterisk 176846 PROTEASOME SUBUNIT, ALPHA-TYPE, 4; PSMA4 PROTEASOME COMPONENT 9; PSC9;; HC9
Asterisk 176847 PROTEASOME SUBUNIT, BETA-TYPE, 10; PSMB10 PROTEASOME SUBUNIT MECL1;; PROTEASOME SUBUNIT BETA-2I
Asterisk 176851 PROTEIN CARBOXYL METHYLTRANSFERASE 1; PCMT1 L-ISOASPARTYL/D-ASPARTYL PROTEIN METHYLTRANSFERASE
Number Sign 176860 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3 PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT;; PROC DEFICIENCY, AUTOSOMAL DOMINANT PROTEIN C DEFICIENCY, ACQUIRED, INCLUDED
Asterisk 176870 ALPHA-1 MICROGLOBULIN/BIKUNIN PRECURSOR; AMBP ALPHA-1 MICROGLOBULIN; A1M;; PROTEIN HC; HCP;; COMPLEX-FORMING GLYCOPROTEIN HETEROGENEOUS IN CHARGE INTER-ALPHA-TRYPSIN INHIBITOR, LIGHT CHAIN, INCLUDED; ITIL, INCLUDED; IATIL, INCLUDED;; BIKUNIN, INCLUDED;; URINARY TRYPSIN INHIBITOR, INCLUDED; UTI, INCLUDED
Asterisk 176871 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 2; EIF2AK2 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-ACTIVATED; PRKR;; PKR;; p68 KINASE
Asterisk 176872 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1; MAP2K1 PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 1; PRKMK1;; MKK1; MAPKK1;; MAPK/ERK KINASE 1; MEK1
Asterisk 176873 CYCLIN-DEPENDENT KINASE 11B; CDK11B CELL DIVISION CYCLE 2-LIKE 1; CDC2L1;; PROTEIN KINASE p58; PK58; p58;; CDC-RELATED PROTEIN KINASE p58;; PITSLRE B;; CDK11
Caret 176874 MOVED TO 114085
Asterisk 176875 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA PROTEIN PHOSPHATASE 1, ALPHA SUBUNIT; PPP1A
Asterisk 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11 PROTEIN-TYROSINE PHOSPHATASE 2C; PTP2C;; TYROSINE PHOSPHATASE SHP2; SHP2
Asterisk 176877 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 3; PTPN3 PTPH1
Asterisk 176878 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 4; PTPN4 PROTEIN-TYROSINE PHOSPHATASE, MEGAKARYOCYTE; PTPMEG; PTPMEG1;; MEGAKARYOCYTE PHOSPHATASE
Asterisk 176879 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 5; PTPN5 PTPN, STRIATUM-ENRICHED; STEP
Asterisk 176880 PROTEIN S; PROS1 PROTEIN S, ALPHA; PSA PROTEIN S PSEUDOGENE, INCLUDED; PROSP, INCLUDED;; PROTEIN S, BETA, INCLUDED; PSB, INCLUDED;; PROS2, INCLUDED
Asterisk 176882 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, BETA; PTPRB VASCULAR ENDOTHELIAL PROTEIN-TYROSINE PHOSPHATASE; VEPTP
Asterisk 176883 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 6; PTPN6 PROTEIN-TYROSINE PHOSPHATASE 1C; PTP1C;; TYROSINE PHOSPHATASE SHP1; SHP1;; HEMATOPOIETIC CELL PHOSPHATASE; HCPH
Asterisk 176884 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ALPHA; PTPRA PTP-ALPHA; PTPA;; RPTPase-ALPHA;; LCA-RELATED PHOSPHATASE; LRP
Asterisk 176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1 PROTEIN PHOSPHOTYROSYLPHOSPHATASE 1B; PTP1B;; PROTEIN-TYROSINE PHOSPHATASE, PLACENTAL
Asterisk 176886 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, GAMMA; PTPRG PROTEIN-TYROSINE PHOSPHATASE GAMMA; PTPG
Asterisk 176887 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 2; PTPN2 PROTEIN-TYROSINE PHOSPHATASE, T-CELL; PTPT
Asterisk 176888 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, MU; PTPRM PROTEIN-TYROSINE PHOSPHATASE RECEPTOR-LIKE 1; PTPRL1
Asterisk 176889 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 7; PTPN7 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, STRESS-INDUCED; PTPNI
Asterisk 176891 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-1; PTPRZ1 PTPRZ;; PTP-ZETA; PTPZ;; RPTP-BETA; RPTPB
Asterisk 176892 PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, BETA; PRKACB PROTEIN KINASE A, C-BETA SUBUNIT
Asterisk 176893 PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, GAMMA; PRKACG PROTEIN KINASE A, C-GAMMA SUBUNIT
Asterisk 176894 PROTEIN KINASE, cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1 cGMP-DEPENDENT PROTEIN KINASE, TYPE I, BETA; cGKI-BETA;; PRKGR1B cGMP-DEPENDENT PROTEIN KINASE, TYPE I, ALPHA, INCLUDED;; cGKI-ALPHA, INCLUDED
Asterisk 176895 PROTEIN Z; PROZ PZ;; VITAMIN K-DEPENDENT PLASMA GLYCOPROTEIN
NULL 176900 PROTEOLYTIC CAPACITY OF PLASMA
Asterisk 176910 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A PROTEIN KINASE A, RII-ALPHA SUBUNIT
Asterisk 176911 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, BETA; PRKAR1B PROTEIN KINASE A, RI-BETA SUBUNIT;; PRKAR1
Asterisk 176912 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, BETA; PRKAR2B PROTEIN KINASE A, RII-BETA SUBUNIT;; PRKAR2
Asterisk 176914 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP1CC PROTEIN PHOSPHATASE 1, GAMMA SUBUNIT; PPP1G
Asterisk 176915 PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP2CA PROTEIN PHOSPHATASE 2A, CATALYTIC SUBUNIT, ALPHA ISOFORM; PP2CA
Asterisk 176916 PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, BETA ISOFORM; PPP2CB PROTEIN PHOSPHATASE 2A, CATALYTIC SUBUNIT, BETA ISOFORM;; PP2CB
Number Sign 176920 PROTEUS SYNDROME GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALY ELATTOPROTEUS SYNDROME, INCLUDED
Asterisk 176930 COAGULATION FACTOR II; F2 THROMBIN;; PROTHROMBIN;; FACTOR II
Asterisk 176940 S100 CALCIUM-BINDING PROTEIN A1; S100A1 S100-ALPHA; S100A
Asterisk 176941 TYROSINE KINASE 2; TYK2
Asterisk 176942 FPS/FES-RELATED TYROSINE KINASE; FER PROTEIN-TYROSINE KINASE 3; TYK3
Asterisk 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2 FGF RECEPTOR;; PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14 KERATINOCYTE GROWTH FACTOR RECEPTOR, INCLUDED; KGFR, INCLUDED;; BEK, MOUSE, HOMOLOG OF, INCLUDED;; FIBROBLAST GROWTH FACTOR RECEPTOR BEK, INCLUDED
Caret 176944 MOVED TO 134935
Asterisk 176945 EPHRIN RECEPTOR EphA8; EPHA8 EPH- AND ELK-RELATED KINASE; EEK;; PROTEIN TYROSINE KINASE EEK;; HEK3
Asterisk 176946 EPHRIN RECEPTOR EphA2; EPHA2 EPITHELIAL CELL RECEPTOR PROTEIN-TYROSINE KINASE; ECK
Asterisk 176947 ZETA-CHAIN-ASSOCIATED PROTEIN KINASE; ZAP70 SYK-RELATED TYROSINE KINASE; SRK;; PROTEIN TYROSINE KINASE ZAP70;; ZETA-ASSOCIATED PROTEIN, 70-KD
Asterisk 176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1 PROTEIN KINASE, MITOGEN-ACTIVATED, 1; PRKM1;; PROTEIN KINASE, MITOGEN-ACTIVATED, 2; PRKM2;; EXTRACELLULAR SIGNAL-REGULATED KINASE 2; ERK2;; PROTEIN TYROSINE KINASE ERK2;; p42MAPK
Asterisk 176949 MITOGEN-ACTIVATED PROTEIN KINASE 4; MAPK4 PROTEIN KINASE, MITOGEN-ACTIVATED, 4; PRKM4;; PROTEIN-TYROSINE KINASE ERK3-RELATED;; ERK3-RELATED;; p63MAPK
Caret 176950 MOVED TO 262890
Asterisk 176960 PROTEIN KINASE C, ALPHA; PRKCA PKCA
Asterisk 176970 PROTEIN KINASE C, BETA; PRKCB PRKCB1;; PKCB PRKCB2, INCLUDED
Asterisk 176975 PROTEIN KINASE C, EPSILON; PRKCE PKCE
Asterisk 176977 PROTEIN KINASE C, DELTA; PRKCD PKCD
Asterisk 176980 PROTEIN KINASE C, GAMMA; PRKCG PKCC; PKCG
Asterisk 176981 RECEPTOR FOR ACTIVATED PROTEIN KINASE C, 1; RACK1 PROTEIN KINASE C, RECEPTOR FOR ACTIVATED, 1;; GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-2-LIKE 1; GNB2L1
Asterisk 176982 PROTEIN KINASE C, ZETA FORM; PRKCZ PKC2;; PKC-ZETA PKM-ZETA, INCLUDED
Asterisk 176990 S100 CALCIUM-BINDING PROTEIN, BETA; S100B
Asterisk 176991 S100 CALCIUM-BINDING PROTEIN A5; S100A5 S100D
Asterisk 176992 S100 CALCIUM-BINDING PROTEIN A3; S100A3 S100E
Asterisk 176993 S100 CALCIUM-BINDING PROTEIN A2; S100A2 S100L
Number Sign 177000 PROTOPORPHYRIA, ERYTHROPOIETIC; EPP ERYTHROHEPATIC PROTOPORPHYRIA;; HEME SYNTHETASE DEFICIENCY;; FERROCHELATASE DEFICIENCY
Asterisk 177010 SERPIN PEPTIDASE INHIBITOR, CLADE E (NEXIN, PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1), MEMBER 2; SERPINE2 PROTEASE INHIBITOR 7; PI7;; GLIAL-DERIVED NEURITE PROMOTING FACTOR;; PROTEASE NEXIN I; PN1;; GLIAL-DERIVED NEXIN 1
Asterisk 177015 PROTEIN SERINE KINASE H1; PSKH1
Asterisk 177020 PROTEINASE 3; PRTN3 PR3;; MYELOBLASTIN; MBT;; WEGENER AUTOANTIGEN; P29;; AZUROPHIL GRANULE PROTEIN 7; AGP7;; SERINE PROTEINASE, NEUTROPHIL
Caret 177030 MOVED TO 176880
Asterisk 177040 SERGLYCIN; SRGN PROTEOGLYCAN 1; PRG1; PRG;; PLATELET PROTEOGLYCAN PROTEIN CORE; PPG;; PROTEOGLYCAN PROTEIN CORE FOR MAST CELL SECRETORY GRANULE
Asterisk 177045 PROTEASOME SUBUNIT, BETA-TYPE, 9; PSMB9 LARGE MULTIFUNCTIONAL PROTEASE 2; LMP2;; PROTEASOME-RELATED GENE 2;; RING12;; PROTEASOME SUBUNIT BETA-1I
Asterisk 177046 PROTEASOME SUBUNIT, BETA-TYPE, 8; PSMB8 LARGE MULTIFUNCTIONAL PROTEASE 7; LMP7;; PROTEASOME-RELATED GENE 7;; RING10;; PROTEASOME SUBUNIT BETA-5I
Percent 177050 PROTRUSIO ACETABULI
Asterisk 177060 PROTEIN KINASE C SUBSTRATE, 80-KD, HEAVY CHAIN; PRKCSH G19P1;; GLUCOSIDASE II, BETA SUBUNIT HEPATOCYSTIN, INCLUDED
Asterisk 177061 MYRISTOYLATED ALANINE-RICH PROTEIN KINASE C SUBSTRATE; MARCKS MAC; MACS;; PROTEIN KINASE C SUBSTRATE, 80-KD, LIGHT CHAIN; PRKCSL
Asterisk 177070 PROTEIN 4.2, ERYTHROCYTIC; EPB42
Asterisk 177075 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG; MAF PROTOONCOGENE MAF
NULL 177100 PRURITUS, HEREDITARY LOCALIZED
Caret 177150 MOVED TO 177170
Number Sign 177170 PSEUDOACHONDROPLASIA; PSACH PSEUDOACHONDROPLASTIC DYSPLASIA;; SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
Number Sign 177200 LIDDLE SYNDROME; LIDLS PSEUDOALDOSTERONISM
NULL 177300 PSEUDOARTHROGRYPOSIS HEREDITARY CONGENITAL RIGIDITY OF ELBOWS AND KNEES;; ANKYLOSIS AT ELBOW AND KNEE
NULL 177350 PSEUDOATROPHODERMA COLLI
Plus 177400 BUTYRYLCHOLINESTERASE; BCHE PSEUDOCHOLINESTERASE E1; CHE1;; ACYLCHOLINE ACYLHYDROLASE BUTYRYLCHOLINESTERASE DEFICIENCY, INCLUDED;; ACHOLINESTERASEMIA, INCLUDED;; SUXAMETHONIUM SENSITIVITY, INCLUDED;; PSEUDOCHOLINESTERASE DEFICIENCY, INCLUDED;; APNEA, POSTANESTHETIC, INCLUDED;; BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE, INCLUDED;; HYPOCHOLINESTERASEMIA, FLUORIDE-RESISTANT, JAPANESE TYPE, INCLUDED
Asterisk 177500 CHOLINESTERASE, SERUM, 2; CHE2 PSEUDOCHOLINESTERASE E2
NULL 177600 PSEUDOCHOLINESTERASE, INCREASE IN PLASMA LEVEL OF
Number Sign 177650 EXFOLIATION SYNDROME; XFS EXFOLIATION GLAUCOMA; XFG;; PSEUDOEXFOLIATION GLAUCOMA; PEXG;; PSEUDOEXFOLIATION OF THE LENS;; PSEUDOEXFOLIATION SYNDROME; PEXS
Number Sign 177700 GLAUCOMA 1, OPEN ANGLE, P; GLC1P
Caret 177720 MOVED TO 194380
Number Sign 177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A PHA I, AUTOSOMAL DOMINANT
Percent 177750 PSEUDOMONILETHRIX
NULL 177800 PSEUDOPAPILLEDEMA
Number Sign 177820 PSEUDO-VON WILLEBRAND DISEASE; VWDP BLEEDING DISORDER, PLATELET-TYPE, 3; BDPLT3;; VON WILLEBRAND DISEASE, PLATELET-TYPE
Number Sign 177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED
Caret 177860 REMOVED FROM DATABASE
Number Sign 177900 PSORIASIS 1, SUSCEPTIBILITY TO; PSORS1
Number Sign 177980 PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES HASPESLAGH SYNDROME
NULL 177990 PTERYGIUM COLLI, ISOLATED
NULL 178000 PTERYGIUM OF CONJUNCTIVA AND CORNEA
Number Sign 178110 ARTHROGRYPOSIS, DISTAL, TYPE 8; DA8 MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT;; PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT
Percent 178200 PTERYGIUM, ANTECUBITAL
Percent 178300 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1
NULL 178330 PTOSIS, STRABISMUS, AND ECTOPIC PUPILS
Percent 178350 PUBIC BONE DYSPLASIA
NULL 178370 PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT
NULL 178400 PULMONARY EDEMA OF MOUNTAINEERS, SUSCEPTIBILITY TO HIGH ALTITUDE PULMONARY HYPERTENSION; HAPH
Number Sign 178500 PULMONARY FIBROSIS, IDIOPATHIC; IPF IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL;; FIBROSING ALVEOLITIS, CRYPTOGENIC;; FIBROCYSTIC PULMONARY DYSPLASIA;; INTERSTITIAL PNEUMONITIS, USUAL; UIP HAMMAN-RICH DISEASE, INCLUDED
NULL 178550 PULMONARY HEMOSIDEROSIS
Number Sign 178600 PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 PHT;; PULMONARY ARTERIAL HYPERTENSION; PAH PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED;; PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED, INCLUDED;; PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA, INCLUDED;; PPH1 WITH HHT, INCLUDED
NULL 178610 PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL
Asterisk 178620 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC SURFACTANT-ASSOCIATED PROTEIN, PULMONARY, 2; SFTP2;; PULMONARY SURFACTANT APOPROTEIN PSP-C; SPC;; PSP-C;; SURFACTANT PROTEOLIPID SPL-pVal;; PULMONARY SURFACTANT PROTEIN SP5
Asterisk 178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1 PULMONARY SURFACTANT APOPROTEIN PSP-A; PSAP;; SURFACTANT-ASSOCIATED PROTEIN, PULMONARY 1; SFTP1;; PULMONARY SURFACTANT-ASSOCIATED PROTEIN, 35-KD; PSPA; SPA; SPA1;; COLLECTIN 4; COLEC4
Asterisk 178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD PULMONARY SURFACTANT APOPROTEIN PSP-D;; PSP-D SURFACTANT PROTEIN D; SP-D;; SURFACTANT-ASSOCIATED PROTEIN, PULMONARY 4; SFTP4;; COLLECTIN 7; COLEC7
Asterisk 178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB SURFACTANT-ASSOCIATED PROTEIN, PULMONARY, 3; SFTP3;; PULMONARY SURFACTANT APOPROTEIN PSP-B; SPB;; PSP-B;; PULMONARY SURFACTANT-ASSOCIATED PROTEIN, 18-KD
Asterisk 178642 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A2; SFTPA2 PULMONARY SURFACTANT PROTEIN AII; SPAII; SPA2;; COLLECTIN 5; COLEC5
NULL 178650 PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES CIUFFO SYNDROME
NULL 178651 PULMONIC STENOSIS AND DEAFNESS
NULL 178800 PUPIL, EGG-SHAPED
NULL 178900 PUPILLARY MEMBRANE, PERSISTENCE OF
Asterisk 178990 MATRIX METALLOPROTEINASE 7; MMP7 MATRILYSIN, UTERINE;; PUTATIVE METALLOPROTEINASE I; PUMP1
NULL 178995 PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY; PUPPP POLYMORPHIC ERUPTION OF PREGNANCY
NULL 179000 PURPURA SIMPLEX
Percent 179010 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1; IHPS1 PYLORIC STENOSIS, INFANTILE;; PYLORIC STENOSIS, INFANTILE HYPERTROPHIC; IHPS
Asterisk 179020 PYRIDOXAL KINASE; PDXK PYRIDOXINE KINASE; PNK;; PKH;; VITAMIN B6 KINASE
Asterisk 179030 PYROPHOSPHATASE, INORGANIC, 1; PPA1 PP
Asterisk 179035 PYRROLINE-5-CARBOXYLATE REDUCTASE 1; PYCR1 PRO3, YEAST, HUMAN COMPLEMENT OF
Caret 179040 MOVED TO 179050
Asterisk 179050 PYRUVATE KINASE, MUSCLE; PKM PYRUVATE KINASE 3; PK3;; OPA-INTERACTING PROTEIN 3; OIP3;; THYROID HORMONE-BINDING PROTEIN, CYTOSOLIC; THBP1 PYRUVATE KINASE, MUSCLE, 1, INCLUDED; PKM1, INCLUDED;; PYRUVATE KINASE, MUSCLE, 2, INCLUDED; PKM2, INCLUDED
Asterisk 179060 PYRUVATE DEHYDROGENASE, BETA POLYPEPTIDE; PDHB PYRUVATE DEHYDROGENASE COMPLEX, E1 BETA POLYPEPTIDE; PHE1B
Asterisk 179061 PYRUVATE DEHYDROGENASE, ALPHA-2; PDHA2 PYRUVATE DEHYDROGENASE, E1-ALPHA POLYPEPTIDE, TESTIS-SPECIFIC
Asterisk 179080 RAB GERANYLGERANYL TRANSFERASE, BETA SUBUNIT; RABGGTB RAB GERANYLGERANYLTRANSFERASE, BETA COMPONENT;; GG TRANSFERASE, COMPONENT B; GGTB
Caret 179090 MOVED TO 164730
Asterisk 179095 UBIQUITIN-CONJUGATING ENZYME E2B; UBE2B RAD6, YEAST, HOMOLOG OF, TYPE B; RAD6B;; HHR6B
Percent 179200 RADIAL HEADS, POSTERIOR DISLOCATION OF
NULL 179250 RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA
NULL 179270 RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA
NULL 179280 RADIAL-RENAL SYNDROME
NULL 179300 RADIOULNAR SYNOSTOSIS
NULL 179400 RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE
Asterisk 179410 RADIXIN; RDX
NULL 179450 RAGWEED SENSITIVITY
Asterisk 179490 RAS-ASSOCIATED PROTEIN RAB3A; RAB3A
NULL 179500 RAINDROP HYPOPIGMENTATION
Asterisk 179502 RAP1, GTPase-GDP DISSOCIATION STIMULATOR 1; RAP1GDS1 GTPase-GDP DISSOCIATION STIMULATOR, RAP1, 1;; GDP-DISSOCIATION STIMULATOR 1; GDS1;; SMGGDS RAP1GDS1/NUP98 FUSION GENE, INCLUDED
Asterisk 179503 RAS-RELATED ASSOCIATED WITH DIABETES; RRAD RAS GENE ASSOCIATED WITH DIABETES; RAD RAD POLYMORPHISM 1, INCLUDED; RAD1, INCLUDED
Asterisk 179505 RAS HOMOLOG GENE FAMILY, MEMBER G; RHOG RAS HOMOLOG GENE G;; ARHG
Asterisk 179508 RAS-ASSOCIATED PROTEIN RAB1; RAB1 RAB1A
Asterisk 179509 RAS-ASSOCIATED PROTEIN RAB2; RAB2 RAB2A
Asterisk 179510 RAS-ASSOCIATED PROTEIN RAB3B; RAB3B
Asterisk 179511 RAS-ASSOCIATED PROTEIN RAB4A; RAB4A RAB4
Asterisk 179512 RAS-ASSOCIATED PROTEIN RAB5A; RAB5A RAB5
Asterisk 179513 RAS-ASSOCIATED PROTEIN RAB6A; RAB6A RAS-ASSOCIATED PROTEIN RAB6; RAB6
Asterisk 179514 RAS-ASSOCIATED PROTEIN RAB5B; RAB5B
Asterisk 179520 RAS-RELATED PROTEIN 1A; RAP1A KREV1
Asterisk 179530 RAS-RELATED PROTEIN RAP1B; RAP1B
Asterisk 179540 RAS-RELATED PROTEIN 2A; RAP2A RAP2;; KREV
Asterisk 179541 RAS-RELATED PROTEIN 2B; RAP2B
Asterisk 179550 V-RAL SIMIAN LEUKEMIA VIRAL ONCOGENE HOMOLOG A; RALA RAS-LIKE PROTEIN; RAL
Asterisk 179551 V-RAL SIMIAN LEUKEMIA VIRAL ONCOGENE HOMOLOG B; RALB RAS-LIKE PROTEIN B
Asterisk 179555 RAS SUPPRESSOR PROTEIN 1; RSU1
Asterisk 179590 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F; PTPRF RECEPTOR-LINKED PROTEIN-TYROSINE PHOSPHATASE LAR;; LEUKOCYTE ANTIGEN-RELATED TYROSINE PHOSPHATASE; LAR
Percent 179600 RAYNAUD DISEASE COLD FINGERS, HEREDITARY
Asterisk 179605 PERIPHERIN 2, MOUSE, HOMOLOG OF; PRPH2 RDS, MOUSE, HOMOLOG OF; RDS;; PERIPHERIN, PHOTORECEPTOR TYPE;; RETINAL DEGENERATION, SLOW, MOUSE, HOMOLOG OF
Asterisk 179610 EPHRIN RECEPTOR EphA1; EPHA1 ONCOGENE EPH;; RECEPTOR TYROSINE KINASE EPH;; EPH TYROSINE KINASE/ERYTHROPOIETIN-PRODUCING HEPATOMA AMPLIFIED SEQUENCE; EPHT;; EPH TYROSINE KINASE 1; EPHT1
Asterisk 179611 EPHRIN RECEPTOR EphA3; EPHA3 HUMAN EMBRYO KINASE; HEK;; RECEPTOR TYROSINE KINASE HEK;; EPH-LIKE TYROSINE KINASE 1; ETK1;; HEK4;; TYRO4
Number Sign 179613 RECOMBINANT CHROMOSOME 8 SYNDROME REC8 SYNDROME;; CHROMOSOME 8q22.1-qter DUPLICATION AND 8pter-p23.1 DELETION;; SAN LUIS VALLEY SYNDROME
Asterisk 179615 RECOMBINATION-ACTIVATING GENE 1; RAG1
Asterisk 179616 RECOMBINATION-ACTIVATING GENE 2; RAG2
Asterisk 179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51 RAD51, S. CEREVISIAE, HOMOLOG OF, A; RAD51A;; RECOMBINATION PROTEIN A; RECA;; RECA, E. COLI, HOMOLOG OF
Asterisk 179618 RECOVERIN; RCV1 CANCER-ASSOCIATED RETINOPATHY PROTEIN;; CAR PROTEIN
Number Sign 179620 RAPH BLOOD GROUP SYSTEM MER2 BLOOD CELL ANTIGEN EXPRESSION; MER2
Percent 179650 RED CELL PERMEABILITY DEFECT ELLIPTOCYTOSIS WITH TRANSVERSE SLITLIKE CHANGES
Percent 179700 RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS HIGH RED CELL PHOSPHATIDYLCHOLINE HEMOLYTIC ANEMIA; HPCHA;; PHOSPHATIDYLCHOLINE RED CELL MEMBRANE DISORDER;; LEAKY RED CELL SYNDROME
Asterisk 179710 REGULATOR OF CHROMOSOME CONDENSATION 1; RCC1 CHROMOSOME CONDENSATION 1; CHC1
Caret 179715 REMOVED FROM DATABASE
Asterisk 179730 RELAXIN 1; RLN1 RELAXIN H1; RLXH1
Asterisk 179740 RELAXIN 2; RLN2 RELAXIN H2; RLXH2;; RELAXIN, OVARIAN, OF PREGNANCY
Asterisk 179755 PAPILLARY RENAL CELL CARCINOMA TRANSLOCATION-ASSOCIATED GENE; PRCC PRCC/TFE3 FUSION GENE, INCLUDED
Caret 179760 MOVED TO 144700
Caret 179770 MOVED TO 144700
Asterisk 179780 DIPEPTIDASE 1; DPEP1 DIPEPTIDASE 1, RENAL;; RENAL DIPEPTIDASE; RDP;; DEHYDROPEPTIDASE I;; MICROSOMAL DIPEPTIDASE; MDP;; MEMBRANE-BOUND DIPEPTIDASE 1; MBD1
Number Sign 179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT RTA, DISTAL TYPE, AUTOSOMAL DOMINANT;; RENAL TUBULAR ACIDOSIS I;; RTA, CLASSIC TYPE;; RTA, GRADIENT TYPE
Asterisk 179820 RENIN; REN
NULL 179830 RENAL TUBULAR ACIDOSIS, PROXIMAL RENAL TUBULAR ACIDOSIS II;; RTA, PROXIMAL TYPE;; RTA, RATE TYPE
Asterisk 179835 REPLICATION PROTEIN A1, 70-KD; RPA1 RPA70;; REPA1
Asterisk 179836 REPLICATION PROTEIN A2, 32-KD; RPA2 RPA32;; REPA2
Asterisk 179837 REPLICATION PROTEIN A3, 14-KD; RPA3 RPA14;; REPA3
Asterisk 179838 CAP-GLY DOMAIN-CONTAINING LINKER PROTEIN 1; CLIP1 RESTIN; RSN;; REED-STERNBERG MICROTUBULE-ASSOCIATED PROTEIN;; CYTOPLASMIC LINKER 1; CYLN1;; CYTOPLASMIC LINKER PROTEIN 170; CLIP170
NULL 179840 RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM
Number Sign 179850 DOWLING-DEGOS DISEASE 1; DDD1 DDD;; RETICULAR PIGMENT ANOMALY OF FLEXURES
Percent 179900 RETINAL APLASIA AMAUROSIS CONGENITA
Number Sign 180000 RETINAL ARTERIES, TORTUOSITY OF; RATOR RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY
Percent 180020 RETINAL CONE DYSTROPHY 1; RCD1 RETINAL CONE DEGENERATION;; CONE DYSTROPHY, AUTOSOMAL DOMINANT
Asterisk 180040 RETINAL DEGENERATION 3, MOUSE, HOMOLOG OF; RD3 CHROMOSOME 1 OPEN READING FRAME 36; C1ORF36
Percent 180050 RETINAL DETACHMENT
Caret 180060 MOVED TO 152950
Asterisk 180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65
Caret 180070 MOVED TO 221900
Asterisk 180071 PHOSPHODIESTERASE 6A, cGMP-SPECIFIC, ROD, ALPHA; PDE6A RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, ALPHA SUBUNIT; PDEA
Asterisk 180072 PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, BETA SUBUNIT; PDEB;; RD, MOUSE, HOMOLOG OF;; RD1, MOUSE, HOMOLOG OF
Asterisk 180073 PHOSPHODIESTERASE 6G, cGMP-SPECIFIC, ROD, GAMMA; PDE6G RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, GAMMA SUBUNIT; PDEG
NULL 180080 RETINAL VENOUS BEADING
Asterisk 180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1 CELLULAR RETINALDEHYDE-BINDING PROTEIN; CRALBP
Number Sign 180100 RETINITIS PIGMENTOSA 1; RP1
Caret 180102 MOVED TO 180380
Caret 180103 MOVED TO 500004
Number Sign 180104 RETINITIS PIGMENTOSA 9; RP9
Number Sign 180105 RETINITIS PIGMENTOSA 10; RP10
Asterisk 180190 RETINOIC ACID RECEPTOR, GAMMA; RARG RARG/NUP98 FUSION GENE, INCLUDED
Number Sign 180200 RETINOBLASTOMA; RB1 RB
Asterisk 180201 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 4A; ARID4A ARID-CONTAINING PROTEIN 4A;; RETINOBLASTOMA-BINDING PROTEIN 1; RBP1; RBBP1
Asterisk 180202 LYSINE-SPECIFIC DEMETHYLASE 5A; KDM5A JUMONJI, AT-RICH INTERACTIVE DOMAIN 1A; JARID1A;; RETINOBLASTOMA-BINDING PROTEIN 2; RBP2; RBBP2
Asterisk 180203 RETINOBLASTOMA-LIKE 2; RBL2 RETINOBLASTOMA-RELATED GENE RB2; RB2;; p130
NULL 180210 RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT
Asterisk 180220 RETINOIC ACID RECEPTOR, BETA; RARB RAR, BETA FORM;; HEPATITIS B VIRUS ACTIVATED PROTEIN, HAP;; HBV-ACTIVATED PROTEIN;; RAR-EPSILON
Asterisk 180230 RETINOIC ACID-BINDING PROTEIN, CELLULAR, TYPE I; CRABP1 CRABP;; RETINOIC ACID-BINDING PROTEIN 5; RBP5
Asterisk 180231 RETINOIC ACID-BINDING PROTEIN, CELLULAR, TYPE II; CRABP2
Asterisk 180240 RETINOIC ACID RECEPTOR, ALPHA; RARA RAR, ALPHA FORM ACUTE PROMYELOCYTIC LEUKEMIA BREAKPOINT CLUSTER REGION, INCLUDED;; RARA/PML FUSION GENE, INCLUDED;; RARA/PLZF FUSION GENE, INCLUDED;; RARA/NUMA1 FUSION GENE, INCLUDED;; RARA/PRKAR1A FUSION GENE, INCLUDED
Asterisk 180245 RETINOID X RECEPTOR, ALPHA; RXRA
Asterisk 180246 RETINOID X RECEPTOR, BETA; RXRB
Asterisk 180247 RETINOID X RECEPTOR, GAMMA; RXRG RXRC
Asterisk 180250 RETINOL-BINDING PROTEIN 4; RBP4 RETINOL-BINDING PROTEIN, PLASMA
Asterisk 180260 RETINOL-BINDING PROTEIN 1; RBP1 RETINOL-BINDING PROTEIN, CELLULAR; RBPC;; CELLULAR RETINOL-BINDING PROTEIN; CRBP;; CELLULAR RETINOL-BINDING PROTEIN 1; CRBP1;; CRBPI
NULL 180270 RETINOSCHISIS, AUTOSOMAL DOMINANT
Asterisk 180280 RETINOL-BINDING PROTEIN 2; RBP2 RETINOL-BINDING PROTEIN, CELLULAR, 2; RBPC2;; CELLULAR RETINOL-BINDING PROTEIN 2; CRBP2;; CRBPII
Asterisk 180290 RETINOL-BINDING PROTEIN 3; RBP3 RETINOL-BINDING PROTEIN, INTERSTITIAL; RBPI;; INTERSTITIAL RETINOL-BINDING PROTEIN; IRBP
Number Sign 180295 RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2
Asterisk 180297 RHESUS BLOOD GROUP-ASSOCIATED GLYCOPROTEIN; RHAG RHESUS ASSOCIATED POLYPEPTIDE, 50-KD; RH50A;; RH2
Number Sign 180300 RHEUMATOID ARTHRITIS; RA RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO
Caret 180330 REMOVED FROM DATABASE
NULL 180350 RHEUMATOID NODULOSIS
NULL 180360 RHINY
Asterisk 180370 THIOSULFATE SULFURTRANSFERASE; TST RHODANESE; RDS
Asterisk 180380 RHODOPSIN; RHO OPSIN 2; OPN2
Asterisk 180381 G PROTEIN-COUPLED RECEPTOR KINASE 1; GRK1 GPRK1;; RHODOPSIN KINASE; RHOK;; RK
Asterisk 180385 LIM DOMAIN ONLY 2; LMO2 RHOMBOTIN 2; RBTN2;; RHOMBOTIN-LIKE 1; RBTNL1; RHOM2;; T-CELL TRANSLOCATION GENE 2; TTG2
Asterisk 180386 LIM DOMAIN ONLY 3; LMO3 RHOMBOTIN-LIKE-2; RBTNL2;; RHOMBOTIN 3; RBTN3; RHOM3
Asterisk 180390 RIBONUCLEOTIDE REDUCTASE, M2 SUBUNIT; RRM2 RIBONUCLEOTIDE REDUCTASE, SMALL SUBUNIT;; RIBONUCLEOTIDE REDUCTASE, R2 SUBUNIT; R2
Asterisk 180410 RIBONUCLEOTIDE REDUCTASE, M1 SUBUNIT; RRM1 RIBONUCLEOTIDE REDUCTASE, LARGE SUBUNIT;; RIBONUCLEOTIDE REDUCTASE, R1 SUBUNIT; R1
Asterisk 180420 RNA, 5S RIBOSOMAL, GENE CLUSTER 1; RN5S1@ 5S rRNA CLUSTER 1
Asterisk 180430 RIBOSE 5-PHOSPHATE ISOMERASE A; RPIA RPI
Asterisk 180435 RIBONUCLEASE L; RNASEL RIBONUCLEASE 4; RNS4;; RIBONUCLEASE, 2-5A-DEPENDENT, INTERFERON-INDUCED;; INTERFERON-INDUCED 2-5A-DEPENDENT RNase
Asterisk 180440 RIBONUCLEASE, RNase A FAMILY, 1; RNASE1 RIBONUCLEASE, PANCREATIC;; RNS1;; RIB1
Asterisk 180450 RIBOSOMAL RNA 1; RNR1
Asterisk 180451 RIBOSOMAL RNA 2; RNR2
Asterisk 180452 RIBOSOMAL RNA 3; RNR3
Asterisk 180453 RIBOSOMAL RNA 4; RNR4
Asterisk 180454 RIBOSOMAL RNA 5; RNR5
Asterisk 180460 RIBOSOMAL PROTEIN S6; RPS6
Caret 180461 MOVED TO 180472
Caret 180462 MOVED TO 180472
Asterisk 180463 RIBOSOMAL PROTEIN S20A; RPS20A
Asterisk 180464 RIBOSOMAL PROTEIN S20B; RPS20B
Asterisk 180465 RIBOSOMAL PROTEIN S25; RPS25
Asterisk 180466 RIBOSOMAL PROTEIN L19; RPL19
Asterisk 180467 RIBOSOMAL PROTEIN L30; RPL30
Asterisk 180468 RIBOSOMAL PROTEIN L35A; RPL35A
Asterisk 180469 RIBOSOMAL PROTEIN L36A-LIKE; RPL36AL RIBOSOMAL PROTEIN L36A; RPL36A
Asterisk 180470 RIBOPHORIN I; RPN1
Asterisk 180471 RIBOSOMAL PROTEIN S11; RPS11
Asterisk 180472 RIBOSOMAL PROTEIN S17; RPS17 RIBOSOMAL PROTEIN S17a-LIKE 1, INCLUDED; RPS17L1, INCLUDED;; RIBOSOMAL PROTEIN S17a, INCLUDED; RPS17A, INCLUDED;; RIBOSOMAL PROTEIN S17b-LIKE 2, INCLUDED; RPS17L2, INCLUDED;; RIBOSOMAL PROTEIN S17b, INCLUDED; RPS17B, INCLUDED
Asterisk 180473 RIBOSOMAL PROTEIN S18; RPS18
Asterisk 180474 RIBOSOMAL PROTEIN L22; RPL22 EPSTEIN-BARR ASSOCIATED PROTEIN; EAP
Asterisk 180475 RIBOSOMAL PROTEIN L12; RPL12
Asterisk 180476 RIBOSOMAL PROTEIN S13; RPS13
Asterisk 180477 RIBOSOMAL PROTEIN S21; RPS21
Asterisk 180478 RIBOSOMAL PROTEIN S3a; RPS3A
Asterisk 180479 RIBOSOMAL PROTEIN L4; RPL4
Asterisk 180480 RIBULOSE 5-PHOSPHATE 3-EPIMERASE; RPE
Asterisk 180490 RIBOPHORIN II; RPN2
Number Sign 180500 AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 RIEGER SYNDROME, TYPE 1;; RIEG;; RGS
Asterisk 180510 RIBOSOMAL PHOSPHOPROTEIN, LARGE, P0; RPLP0 RIBOSOMAL PHOSPHOPROTEIN, ACIDIC, P0
Asterisk 180520 RIBOSOMAL PHOSPHOPROTEIN, LARGE, P1; RPLP1 RIBOSOMAL PHOSPHOPROTEIN, ACIDIC, P1
Asterisk 180530 RIBOSOMAL PHOSPHOPROTEIN, LARGE, P2; RPLP2 RIBOSOMAL PHOSPHOPROTEIN, ACIDIC, P2
Asterisk 180535 RIBOSOMAL PROTEIN S15; RPS15 RAT INSULINOMA GENE HOMOLOG; RIG
Caret 180540 MOVED TO 131410
Number Sign 180550 RING DERMOID OF CORNEA; RDC
Percent 180600 RINGED HAIR PILI ANNULATI
Asterisk 180610 REARRANGED LMYC FUSION; RLF RLF PROTEIN INVOLVED IN ACTIVATION OF LMYC
Asterisk 180620 TRANSFER RNA METHIONINE 2; TRNAM2 tRNA METHIONINE INITIATOR 2; TRNAMI2;; RNA, TRANSFER, METHIONINE INITIATOR, 2; RNTMI2
Asterisk 180621 TRANSFER RNA METHIONINE 1; TRNAM1 TRANSFER RNA METHIONINE INITIATOR 1;; TRMI1 tRNA METHIONINE INITIATOR 1;; RNA, INITIATOR METHIONINE TRANSFER, 1; RNTMI1
Asterisk 180630 DEAD/H BOX 5; DDX5 RNA HELICASE, 68-KD;; HELICASE, RNA, NUCLEAR 1; HLR1;; G17P1;; NUCLEAR ANTIGEN, 68-KD; p68;; RNA-DEPENDENT ATPase
Asterisk 180640 TRANSFER RNA GLUTAMIC ACID; TRNAE1 TRNE;; tRNA GLUTAMIC ACID; TRE
Asterisk 180645 SMALL NUCLEOLAR RNA, H/ACA BOX, 73A; SNORA73A RNA, U17A SMALL NUCLEOLAR; RNU17A;; snoRNA, U17A;; RNA, SMALL NUCLEOLAR E1; RNE1
Asterisk 180646 SMALL NUCLEOLAR RNA, H/ACA BOX, 62; SNORA62 RNA, U108 SMALL NUCLEOLAR; RNU108;; RNA, E2 SMALL NUCLEOLAR; RNE2;; snoRNA, E2
Asterisk 180647 SMALL NUCLEOLAR RNA, H/ACA BOX, 63; SNORA63 RNA, U107 SMALL NUCLEOLAR; RNU107;; RNA, E3 SMALL NUCLEOLAR; RNE3;; snoRNA, E3
Asterisk 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A RPB1, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 220-KD SUBUNIT;; RNA POLYMERASE II, LARGE SUBUNIT; RPO2; RPOL2; POLR2
Asterisk 180661 POLYMERASE II, RNA, SUBUNIT B; POLR2B RPB2, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 140-KD SUBUNIT;; RNA POLYMERASE II, SECOND LARGEST SUBUNIT
Asterisk 180662 POLYMERASE II, RNA, SUBUNIT I; POLR2I RPB9, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 14.5-KD SUBUNIT
Asterisk 180663 POLYMERASE II, RNA, SUBUNIT C; POLR2C RPB3, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 33-KD SUBUNIT
Asterisk 180664 POLYMERASE II, RNA, SUBUNIT E; POLR2E RPB5, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 25-KD SUBUNIT
Asterisk 180670 RNA POLYMERASE III TRANSCRIPTIONAL UNITS
Asterisk 180680 RNA, U1A SMALL NUCLEAR; RNU1A snRNA, U1A;; RNA, U1 SMALL NUCLEAR; RNU1
Asterisk 180690 RNA, U2 SMALL NUCLEAR, 1; RNU2-1 snRNA, U2 RNA, U2 SMALL NUCLEAR, FORMERLY; RNU2, FORMERLY
Asterisk 180691 RNA, U5A SMALL NUCLEAR; RNU5A snRNA, U5A;; RNA, U5 SMALL NUCLEAR; RNU5
Asterisk 180692 RNA, U6 SMALL NUCLEAR, 1; RNU6-1 RNA, U6 SMALL NUCLEAR; RNU6;; snRNA, U6A;; RNA, U6A SMALL NUCLEAR, FORMERLY; RNU6A, FORMERLY
Number Sign 180700 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 ROBINOW DWARFISM;; FETAL FACE SYNDROME;; ACRAL DYSOSTOSIS WITH FACIAL AND GENITAL ABNORMALITIES
Asterisk 180710 SMALL NUCLEOLAR RNA, C/D BOX, 3A; SNORD3A RNA, U3 SMALL NUCLEOLAR; RNU3;; snoRNA, U3
Caret 180720 MOVED TO 180680
Asterisk 180721 ROD OUTER SEGMENT PROTEIN 1; ROM1 ROSP1
NULL 180730 ROMBO SYNDROME
Asterisk 180740 SMALL NUCLEAR RIBONUCLEOPROTEIN, U1 SUBUNIT, 70-KD; SNRNP70 SNRP70;; RNA, U1 SMALL NUCLEAR, ASSOCIATED PROTEIN; U1RNP; U1AP;; RIBONUCLEOPROTEIN U1, SMALL NUCLEAR; RPU1;; RIBONUCLEOPROTEIN U1, SMALL NUCLEAR, 70-KD; U170K;; RNP ANTIGEN
Number Sign 180750 ROBINOW-SORAUF SYNDROME CRANIOSYNOSTOSIS-BIFID HALLUX SYNDROME;; ACROCEPHALOSYNDACTYLY, ROBINOW-SORAUF TYPE
Number Sign 180800 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA ROUSSY-LEVY SYNDROME
Caret 180840 MOVED TO 601625
Number Sign 180849 RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 RSTS;; RUBINSTEIN SYNDROME;; BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION;; BROAD THUMB-HALLUX SYNDROME
Caret 180850 MOVED TO 180849
Number Sign 180860 SILVER-RUSSELL SYNDROME; SRS RUSSELL-SILVER SYNDROME; RSS;; SILVER-RUSSELL DWARFISM
NULL 180870 RUVALCABA SYNDROME
Percent 180900 RUTHERFURD SYNDROME CORNEAL DYSTROPHY WITH GUM HYPERTROPHY;; GINGIVAL HYPERTROPHY WITH CORNEAL DYSTROPHY
Asterisk 180901 RYANODINE RECEPTOR 1; RYR1 RYANODINE RECEPTOR, SKELETAL MUSCLE; RYDR;; SKELETAL MUSCLE RYANODINE RECEPTOR; SKRR;; SARCOPLASMIC RETICULUM CALCIUM RELEASE CHANNEL
Asterisk 180902 RYANODINE RECEPTOR 2; RYR2 RYANODINE RECEPTOR, CARDIAC
Asterisk 180903 RYANODINE RECEPTOR 3; RYR3 RYANODINE RECEPTOR, BRAIN
Asterisk 180910 SALIVARY ESTERASE
Number Sign 180920 APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG SALIVARY GLANDS, ABSENCE OF, INCLUDED;; PAROTID APLASIA OR HYPOPLASIA, INCLUDED
Caret 180930 REMOVED FROM DATABASE
Caret 180940 REMOVED FROM DATABASE
Percent 180950 SALIVARY SUBSTANCE, CLOSTRIDIUM BOTULINUM TYPE
Asterisk 180960 S-ADENOSYLHOMOCYSTEINE HYDROLASE; AHCY SAHH
Asterisk 180980 S-ADENOSYLMETHIONINE DECARBOXYLASE; AMD1 AMD
Asterisk 180989 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 1; PRB1 BASIC SALIVARY PROLINE-RICH PROTEIN, BstNI TYPE, 1 SALIVARY PROTEIN Pe, INCLUDED;; PAROTID MIDDLE BAND PROTEIN, INCLUDED; Pm, INCLUDED;; PmF, INCLUDED;; PmS, INCLUDED;; CON2, INCLUDED
Asterisk 180990 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 4; PRB4 BASIC SALIVARY PROLINE-RICH PROTEIN, BstNI TYPE, 4 SALIVARY PROTEIN Po, INCLUDED
Number Sign 181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1 SARCOIDOSIS;; BOECK SARCOID
NULL 181010 SALIVARY DUCT CALCULI PAROTID DUCT CALCULI;; SUBMANDIBULAR DUCT CALCULI
Number Sign 181030 SALIVARY GLAND ADENOMA, PLEOMORPHIC SGPA;; PSA
Asterisk 181031 S-ANTIGEN; SAG ARRESTIN;; S-ARRESTIN;; ROD ARRESTIN
Asterisk 181035 TETRASPANIN 31; TSPAN31 SARCOMA AMPLIFIED SEQUENCE; SAS
NULL 181180 SAY SYNDROME CLEFT PALATE, MICROCEPHALY, LARGE EARS, AND SHORT STATURE
NULL 181200 SC(1) TRAIT OF SALIVA
NULL 181250 SCALP DEFECTS AND POSTAXIAL POLYDACTYLY
Number Sign 181270 SCALP-EAR-NIPPLE SYNDROME; SENS FINLAY-MARKS SYNDROME;; SEN SYNDROME
NULL 181300 SCAPULA, CONTOUR OF VERTEBRAL BORDER OF
Number Sign 181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2 EMD2;; EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT;; SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY;; MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT;; HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY
Number Sign 181400 SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; SCPNK KAESER SYNDROME;; STARK-KAESER SYNDROME;; SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER
Number Sign 181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE
Number Sign 181430 SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM SCAPULOPERONEAL MUSCULAR DYSTROPHY; SPMD;; SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE
Percent 181440 SCHEUERMANN DISEASE SCHEUERMANN JUVENILE KYPHOSIS;; SPINAL OSTEOCHONDROSIS
Number Sign 181450 ULNAR-MAMMARY SYNDROME; UMS PALLISTER ULNAR-MAMMARY SYNDROME;; SCHINZEL SYNDROME
Percent 181460 SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO SCHISTOSOMA MANSONI, INTENSITY OF INFECTION BY; SM1
Number Sign 181500 SCHIZOPHRENIA; SCZD SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER
Percent 181510 SCHIZOPHRENIA 1; SCZD1 SCHIZOPHRENIA 1 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 5-RELATED
Caret 181515 MOVED TO 300977
Caret 181520 MOVED TO 104640
Asterisk 181590 SCL/TAL1-INTERRUPTING LOCUS; STIL SCL-INTERRUPTING LOCUS; SIL
Percent 181600 HURIEZ SYNDROME; HRZ SCLEROTYLOSIS;; SCLEROATROPHIC AND KERATOTIC DERMATOSIS OF LIMBS
NULL 181700 SCLEROCORNEA, AUTOSOMAL DOMINANT
Percent 181750 SCLERODERMA, FAMILIAL PROGRESSIVE SYSTEMIC SCLEROSIS, SUSCEPTIBILITY TO CREST SYNDROME, INCLUDED
Percent 181800 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1; IS1 ADOLESCENT ISOLATED SCOLIOSIS; AIS;; ADOLESCENT IDIOPATHIC SCOLIOSIS
Number Sign 182000 KERATOSIS, SEBORRHEIC
Asterisk 182090 SIMIAN SARCOMA-ASSOCIATED VIRUS-1/GIBBON APE LEUKEMIA VIRUS; SSAV1 GLV
Asterisk 182098 SECRETIN RECEPTOR; SCTR
Asterisk 182099 SECRETIN; SCT
Plus 182100 FUCOSYLTRANSFERASE 2; FUT2 SECRETOR FACTOR; Se NORWALK VIRUS INFECTION, RESISTANCE TO, INCLUDED
Asterisk 182115 CYTOHESIN 1; CYTH1 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 1; PSCD1;; SEC7, YEAST, HOMOLOG OF; SEC7;; D17S811E
Asterisk 182120 SECRETED PROTEIN, ACIDIC, CYSTEINE-RICH; SPARC OSTEONECTIN; ON;; BM40
Asterisk 182125 SEPIAPTERIN REDUCTASE; SPR
Asterisk 182128 SERINE DEHYDRATASE; SDS SDH
Asterisk 182131 5-HYDROXYTRYPTAMINE RECEPTOR 1B; HTR1B SEROTONIN 5-HT-1B RECEPTOR;; SEROTONIN 5-HT-1D-BETA RECEPTOR;; 5-HYDROXYTRYPTAMINE-1D-BETA RECEPTOR; HTR1DB
Asterisk 182132 5-HYDROXYTRYPTAMINE RECEPTOR 1E; HTR1E SEROTONIN 5-HT-1E RECEPTOR
Asterisk 182133 5-HYDROXYTRYPTAMINE RECEPTOR 1D; HTR1D SEROTONIN 5-HT-1D RECEPTOR;; 5-HYDROXYTRYPTAMINE RECEPTOR 1D-ALPHA; HTR1DA;; RDC4
Asterisk 182134 5-HYDROXYTRYPTAMINE RECEPTOR 1F; HTR1F 5-HYDROXYTRYPTAMINE-1E-LIKE RECEPTOR; HTR1EL;; SEROTONIN 5-HT-1F RECEPTOR;; SEROTONIN 5-HT-1E-LIKE RECEPTOR;; MR77
Asterisk 182135 5-HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A SEROTONIN 5-HT-2A RECEPTOR;; SEROTONIN 5-HT-2 RECEPTOR, FORMERLY; HTR2, FORMERLY
Asterisk 182137 5-HYDROXYTRYPTAMINE RECEPTOR 7; HTR7 SEROTONIN 5-HT-7 RECEPTOR
Asterisk 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN), MEMBER 4; SLC6A4 SEROTONIN TRANSPORTER; SERT;; 5-HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;; HTT
Asterisk 182139 5-HYDROXYTRYPTAMINE RECEPTOR 3A; HTR3A 5-HYDROXYTRYPTAMINE RECEPTOR 3; HTR3;; SEROTONIN 5-HT-3 RECEPTOR
Asterisk 182140 SEMENOGELIN I; SEMG1 SEMENOGELIN; SEMG;; CANCER/TESTIS ANTIGEN 103
Asterisk 182141 SEMENOGELIN II; SEMG2
Caret 182143 MOVED TO 177040
Asterisk 182144 SERINE HYDROXYMETHYLTRANSFERASE, CYTOSOLIC; SHMT1
Asterisk 182145 SERUM PROTEIN POLYMORPHISM M-158 SPPM-158
NULL 182150 SIMOSA CRANIOFACIAL SYNDROME
Asterisk 182160 SIALOPHORIN; SPN LEUKOSIALIN; LSN;; LEUKOCYTE LARGE SIALOGLYCOPROTEIN;; CD43;; GPL115
Number Sign 182170 ANEMIA, SIDEROBLASTIC, 4; SIDBA4
Asterisk 182175 SIGNAL RECOGNITION PARTICLE, 19-KD; SRP19
Asterisk 182180 SIGNAL RECOGNITION PARTICLE RECEPTOR, ALPHA SUBUNIT; SRPRA SIGNAL RECOGNITION PARTICLE RECEPTOR; SRPR;; DOCKING PROTEIN; DP
NULL 182190 SINUS NODE DISEASE AND MYOPIA SICK SINUS SYNDROME AND MYOPIA;; SSS-MYOPIA SYNDROME
NULL 182200 SELLA TURCICA, BRIDGED
Caret 182203 MOVED TO 162643
Asterisk 182205 SEX HORMONE-BINDING GLOBULIN; SHBG ANDROGEN-BINDING PROTEIN; ABP;; TESTOSTERONE-BINDING BETA-GLOBULIN; TEBG
NULL 182210 SHPRINTZEN OMPHALOCELE SYNDROME OMPHALOCELE WITH HYPOPLASIA OF PHARYNX AND LARYNX, LEARNING DISABILITY, DYSMORPHIC FACIES, AND SCOLIOSIS;; PHARYNX AND LARYNX HYPOPLASIA WITH OMPHALOCELE
Number Sign 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS CRANIOSYNOSTOSIS WITH ARACHNODACTYLY AND ABDOMINAL HERNIAS;; MARFANOID DISORDER WITH CRANIOSYNOSTOSIS, TYPE I;; MARFANOID CRANIOSYNOSTOSIS SYNDROME
NULL 182220 SISTER CHROMATID EXCHANGE, FREQUENCY OF SCE, FREQUENCY OF
Number Sign 182230 SEPTOOPTIC DYSPLASIA DE MORSIER SYNDROME PITUITARY HORMONE DEFICIENCY, COMBINED, 5, INCLUDED; CPHD5, INCLUDED;; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, INCLUDED
Number Sign 182250 SINGLETON-MERTEN SYNDROME 1; SGMRT1
NULL 182255 SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION
Asterisk 182257 PROTEINASE INHIBITOR 3; PI3 SKIN-DERIVED ANTILEUKOPROTEINASE; SKALP;; ANTILEUKOPROTEINASE, SKIN-DERIVED;; ELAFIN;; ELASTASE-SPECIFIC INHIBITOR; ESI;; TRAPPIN 2
NULL 182260 SLIPPED FEMORAL CAPITAL EPIPHYSES EPIPHYSIOLYSIS CAPITIS FEMORIS
Asterisk 182265 SMALL PROLINE-RICH PROTEIN 1A; SPRR1A
Asterisk 182266 SMALL PROLINE-RICH PROTEIN 1B; SPRR1B CORNIFIN
Asterisk 182267 SMALL PROLINE-RICH PROTEIN 2A; SPRR2A
Asterisk 182268 SMALL PROLINE-RICH PROTEIN 2B; SPRR2B
NULL 182269 SMALL PROLINE-RICH PROTEIN 2C, PSEUDOGENE; SPRR2C
NULL 182270 KETONE COMPOUNDS, ABILITY TO SMELL
Asterisk 182271 SMALL PROLINE-RICH PROTEIN 3; SPRR3
Asterisk 182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN SMN SNRPN UPSTREAM READING FRAME, INCLUDED; SNURF, INCLUDED
Percent 182280 SMALL CELL CANCER OF THE LUNG SCLC1;; SCLC; SCCL
Asterisk 182281 CHEMOKINE, CC MOTIF, LIGAND 1; CCL1 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 1; SCYA1;; SMALL INDUCIBLE CYTOKINE A1;; INFLAMMATORY CYTOKINE I-309; I309
Asterisk 182282 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDES B AND B1; SNRPB SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDES B AND B-PRIME
Asterisk 182283 CHEMOKINE, CC MOTIF, LIGAND 3; CCL3 SMALL INDUCIBLE CYTOKINE A3; SCYA3;; MACROPHAGE INFLAMMATORY PROTEIN 1-ALPHA; MIP1A;; LD78-ALPHA
Asterisk 182284 CHEMOKINE, CC MOTIF, LIGAND 4; CCL4 SMALL INDUCIBLE CYTOKINE A4; SCYA4;; MACROPHAGE INFLAMMATORY PROTEIN 1-BETA; MIP1B;; MIP1B1;; IMMUNE ACTIVATION 2; ACT2;; AT744.1
Asterisk 182285 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE A; SNRPA
Number Sign 182290 SMITH-MAGENIS SYNDROME; SMS CHROMOSOME 17p11.2 DELETION SYNDROME SMITH-MAGENIS SYNDROME CHROMOSOME REGION, INCLUDED; SMCR, INCLUDED
Asterisk 182305 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER A1; SLC8A1 SODIUM-CALCIUM EXCHANGER 1; NCX1
Asterisk 182307 SOLUTE CARRIER FAMILY 9, MEMBER 3; SLC9A3 SODIUM/HYDROGEN EXCHANGER 3; NHE3;; SODIUM/HYDROGEN EXCHANGER, APICAL EPITHELIAL
Asterisk 182308 SOLUTE CARRIER FAMILY 17 (ORGANIC ANION COTRANSPORTER), MEMBER 1; SLC17A1 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 1;; SODIUM-PHOSPHATE TRANSPORT 1, KIDNEY; NPT1;; RENAL SODIUM-PHOSPHATE TRANSPORT PROTEIN 1
Asterisk 182309 SOLUTE CARRIER FAMILY 34 (TYPE II SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 1; SLC34A1 SOLUTE CARRIER FAMILY 17, MEMBER 2, FORMERLY; SLC17A2, FORMERLY;; SODIUM/PHOSPHATE TRANSPORT 2, KIDNEY; NPT2;; RENAL SODIUM/PHOSPHATE TRANSPORT PROTEIN 2;; NaPi3
Asterisk 182310 ATPase, Na+/K+ TRANSPORTING, ALPHA-1 POLYPEPTIDE; ATP1A1 SODIUM-POTASSIUM-ATPase, ALPHA-1 POLYPEPTIDE;; Na,K-ATPase, ALPHA-A CATALYTIC POLYPEPTIDE
Asterisk 182330 ATPase, Na+/K+ TRANSPORTING, BETA-1 POLYPEPTIDE; ATP1B1 Na,K-ATPase BETA-1 POLYPEPTIDE
Asterisk 182331 ATPase, Na+/K+ TRANSPORTING, BETA-2 POLYPEPTIDE; ATP1B2 Na,K-ATPase BETA-2 POLYPEPTIDE;; ADHESION MOLECULE ON GLIA; AMOG
Asterisk 182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2 SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE;; Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;; Na,K-ATPase, ALPHA-B POLYPEPTIDE
Asterisk 182350 ATPase, Na+/K+ TRANSPORTING, ALPHA-3 POLYPEPTIDE; ATP1A3 SODIUM-POTASSIUM-ATPase, ALPHA-3 POLYPEPTIDE;; ATPase, Na+/K+, ALPHA III
Asterisk 182360 ATPase, H+/K+ TRANSPORTING, NONGASTRIC, ALPHA POLYPEPTIDE; ATP12A HYDROGEN/POTASSIUM-EXCHANGING ATPase 12A;; ATPase, Na+/K+ TRANSPORTING, ALPHA POLYPEPTIDE-LIKE 1; ATP1AL1;; SODIUM/POTASSIUM-ATPase, ALPHA POLYPEPTIDE-LIKE
Caret 182370 MOVED TO 182330
Asterisk 182380 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1; SLC5A1 SODIUM-GLUCOSE TRANSPORTER 1; SGLT1;; SODIUM-GLUCOSE COTRANSPORTER, INTESTINAL;; NA+/GLUCOSE COTRANSPORTER, HIGH AFFINITY; NAGT
Asterisk 182381 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 2; SLC5A2 SODIUM-GLUCOSE TRANSPORTER 2; SGLT2;; SODIUM-GLUCOSE COTRANSPORTER, RENAL;; SODIUM-GLUCOSE COTRANSPORTER, KIDNEY LOW AFFINITY
Asterisk 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A SODIUM CHANNEL, BRAIN TYPE I, ALPHA SUBUNIT; NAC1;; NAV1.1
Asterisk 182390 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, ALPHA SUBUNIT; SCN2A SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;; NAV1.2;; SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1, FORMERLY
Asterisk 182391 SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, ALPHA SUBUNIT; SCN3A SODIUM CHANNEL, NEURONAL TYPE III, ALPHA SUBUNIT;; SODIUM CHANNEL, BRAIN TYPE III, ALPHA SUBUNIT; NAC3;; NAV1.3
Asterisk 182392 SODIUM CHANNEL, VOLTAGE-GATED, TYPE VII, ALPHA SUBUNIT; SCN7A SODIUM CHANNEL, NEURONAL TYPE VI, ALPHA SUBUNIT;; SODIUM CHANNEL, VOLTAGE-GATED, TYPE VI, ALPHA SUBUNIT; SCN6A
Asterisk 182396 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 1; SLC10A1 SODIUM/TAUROCHOLATE COTRANSPORTING POLYPEPTIDE; NTCP;; SODIUM/TAUROCHOLATE COTRANSPORTING POLYPEPTIDE, HEPATIC; NTCP1
NULL 182400 SOMATOMEDIN, EMBRYONIC
Number Sign 182410 SNEDDON SYNDROME LIVEDO RETICULARIS AND CEREBROVASCULAR ACCIDENTS
Asterisk 182450 SOMATOSTATIN; SST SMST SOMATOSTATIN 28, INCLUDED;; SOMATOSTATIN 14, INCLUDED;; NEURONOSTATIN, INCLUDED
Asterisk 182451 SOMATOSTATIN RECEPTOR 1; SSTR1
Asterisk 182452 SOMATOSTATIN RECEPTOR 2; SSTR2
Asterisk 182453 SOMATOSTATIN RECEPTOR 3; SSTR3
Asterisk 182454 SOMATOSTATIN RECEPTOR 4; SSTR4
Plus 182455 SOMATOSTATIN RECEPTOR 5; SSTR5 SOMATOSTATIN ANALOG, RESISTANCE TO, INCLUDED
Asterisk 182465 SON DNA-BINDING PROTEIN; SON
Asterisk 182500 SORBITOL DEHYDROGENASE; SORD SORBITOL DEHYDROGENASE 1; SORD1 SORBITOL DEHYDROGENASE 2, INCLUDED; SORD2, INCLUDED
Asterisk 182520 SORCIN; SRI MULTIDRUG-RESISTANCE COMPLEX, CLASS 4;; MDR COMPLEX, CLASS 4
Asterisk 182530 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1; SOS1 SOS1 GUANINE NUCLEOTIDE EXCHANGE FACTOR
Asterisk 182590 TREFOIL FACTOR 2; TFF2 SPASMOLYTIC PROTEIN 1; SP; SML1
Number Sign 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A SPG3;; STRUMPELL DISEASE;; FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 1; FSP1
Number Sign 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 2; FSP2
NULL 182610 SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPEMR
NULL 182690 SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND PROGRESSIVE NEPHROPATHY
Caret 182700 MOVED TO 270685
Asterisk 182790 SPECTRIN, BETA, NONERYTHROCYTIC, 1; SPTBN1 SPECTRIN, NONERYTHROID, BETA SUBUNIT; SPTB2;; BETA-SPECTRIN, GENERAL FORM;; BETA-G SPECTRIN;; FODRIN, BETA;; EMBRYONIC LIVER BETA-FODRIN; ELF;; SPECTRIN, BETA-II
NULL 182800 SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS
Asterisk 182810 SPECTRIN, ALPHA, NONERYTHROCYTIC 1; SPTAN1 SPECTRIN, NONERYTHROID, ALPHA SUBUNIT; NEAS;; SPECTRIN, ALPHA-II;; FODRIN, ALPHA
NULL 182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA
NULL 182820 SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY PRECOCIOUS PUBERTY WITH SPASTIC PARAPLEGIA
NULL 182830 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA
Asterisk 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1
Plus 182870 SPECTRIN, BETA, ERYTHROCYTIC; SPTB SPECTRIN, BETA-I ELLIPTOCYTOSIS 3, INCLUDED; EL3, INCLUDED
NULL 182875 SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, AND TRANSVERSE EARLOBE CREASE
Asterisk 182878 OUTER DENSE FIBER OF SPERM TAILS 1; ODF1 OUTER DENSE FIBER OF SPERM TAILS, 27-KD; ODF27;; SPERM OUTER DENSE FIBER; SODF
Caret 182879 MOVED TO 104776
Asterisk 182880 SPERM PROTAMINE P1; PRM1
NULL 182882 SPERM PROTAMINE P4; PRM4
Asterisk 182888 ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2 SPERM RECEPTOR, SECONDARY
Asterisk 182889 ZONA PELLUCIDA GLYCOPROTEIN 3; ZP3 ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A;; SPERM RECEPTOR ZONA PELLUCIDA GLYCOPROTEIN 3B, INCLUDED; ZP3B, INCLUDED
Asterisk 182890 SPERM PROTAMINE P2; PRM2
Asterisk 182891 SPERMIDINE SYNTHASE; SRM SPS1
Caret 182892 MOVED TO 300105
Number Sign 182900 SPHEROCYTOSIS, TYPE 1; SPH1 SPHEROCYTOSIS, HEREDITARY, 1; HS1;; SPH; HS
Number Sign 182920 MYOPATHY, SPHEROID BODY
Caret 182930 MOVED TO 167800
Number Sign 182940 NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD SPINA BIFIDA, INCLUDED
Percent 182950 SPINAL ARACHNOIDITIS
Percent 182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I; HMN1 HMN I;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE I; DHMN1;; SPINAL MUSCULAR ATROPHY, DISTAL, JUVENILE, AUTOSOMAL DOMINANT, I;; CHARCOT-MARIE-TOOTH DISEASE, SPINAL, I
Percent 182970 SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE FSHSMA
Number Sign 182980 SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE; SMAFK FINKEL LATE-ADULT TYPE SMA;; SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT
NULL 182990 SPINAL INTRADURAL ARACHNOID CYSTS
Caret 183000 MOVED TO 137440
NULL 183020 SPINAL MUSCULAR ATROPHY, SEGMENTAL
Percent 183050 SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY
Caret 183085 MOVED TO 109150
Number Sign 183086 SPINOCEREBELLAR ATAXIA 6; SCA6
Number Sign 183090 SPINOCEREBELLAR ATAXIA 2; SCA2 SPINOCEREBELLAR ATROPHY II;; OLIVOPONTOCEREBELLAR ATROPHY, HOLGUIN TYPE;; OLIVOPONTOCEREBELLAR ATROPHY II; OPCA2;; SPINOCEREBELLAR ATAXIA, CUBAN TYPE;; CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS;; WADIA-SWAMI SYNDROME;; SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13, INCLUDED; ALS13, INCLUDED
NULL 183100 SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS
Caret 183250 REMOVED FROM DATABASE
NULL 183300 SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA SPLENOGONADAL FUSION LIMB DEFECT SYNDROME;; SGFLD SYNDROME
NULL 183350 SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA AND REDUCED CIRCULATING T HELPER CELLS
NULL 183400 SPLIT LOWER LIP
NULL 183500 SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA
Number Sign 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1 SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS;; SPLIT-HAND/FOOT DEFORMITY 1; SHFD1; SHSF1;; SPLIT-HAND DEFORMITY;; ECTRODACTYLY; ECD
NULL 183700 SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS PATTERSON-STEVENSON-FONTAINE SYNDROME
NULL 183800 SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS NYSTAGMUS-SPLIT HAND SYNDROME;; KARSCH-NEUGEBAUER SYNDROME; KNS
NULL 183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS
Percent 183840 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2; SPDA2
NULL 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS WHYTE SYNDROME
NULL 183850 SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY
Number Sign 183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC SED CONGENITA;; SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE
NULL 184000 SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS
Number Sign 184095 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE SED, MAROTEAUX TYPE;; PSEUDO-MORQUIO SYNDROME, TYPE 2
Percent 184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT
Percent 184200 SPONDYLOLISTHESIS
Number Sign 184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK SEMD, STRUDWICK TYPE;; SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE;; SMED, STRUDWICK TYPE;; SMED, TYPE I;; STRUDWICK SYNDROME;; DAPPLED METAPHYSIS SYNDROME;; SPONDYLOMETAPHYSEAL DYSPLASIA; SMD;; SEMDC
Number Sign 184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK SMD, KOZLOWSKI TYPE
NULL 184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE;; SPONDYLOMETAPHYSEAL DYSPLASIA WITH SEVERE GENU VALGUM
Number Sign 184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE; SMDCF SPONDYLOMETAPHYSEAL DYSPLASIA, SUTCLIFFE TYPE
NULL 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA GOLDBLATT SYNDROME;; ODONTOCHONDRODYSPLASIA; ODCD
NULL 184300 SPONDYLOSIS, CERVICAL
Percent 184400 SPRENGEL DEFORMITY HIGH SCAPULA
Asterisk 184420 FARNESYLDIPHOSPHATE FARNESYLTRANSFERASE 1; FDFT1 SQUALENE SYNTHASE
Asterisk 184429 SRY-BOX 2; SOX2 SRY-RELATED HMG-BOX GENE 2
Asterisk 184430 SRY-BOX 4; SOX4 SRY-RELATED HMG-BOX GENE 4;; ECOTROPIC VIRAL INTEGRATION SITE 16; EVI16
Number Sign 184450 STUTTERING, FAMILIAL PERSISTENT, 1; STUT1 STAMMERING
Number Sign 184460 STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY;; TEUNISSEN-CREMERS SYNDROME;; STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM
Asterisk 184470 STATHERIN; STATH STR
Number Sign 184500 STEATOCYSTOMA MULTIPLEX SEBACEOUS CYSTS, MULTIPLE
NULL 184510 STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH
Asterisk 184600 CYSTATIN A; CSTA STEFIN A; STFA;; STF1
Caret 184601 MOVED TO 601145
Percent 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1 PCO1; PCO;; PCOS;; STEIN-LEVENTHAL SYNDROME;; HYPERANDROGENEMIA
NULL 184705 STEINFELD SYNDROME
Asterisk 184745 KIT LIGAND; KITLG KL; KITL;; MAST CELL GROWTH FACTOR; MGF;; MGF STEM CELL FACTOR; SCF;; STEEL, MOUSE, HOMOLOG OF;; STEEL FACTOR; SF
Caret 184747 MOVED TO 136351
Asterisk 184753 STEROID 5-ALPHA-REDUCTASE 1; SRD5A1
Caret 184754 MOVED TO 201910
Asterisk 184755 STEROL CARRIER PROTEIN 2; SCP2 STEROL CARRIER PROTEIN X; SCPX
Asterisk 184756 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 1; SREBF1 STEROL REGULATORY ELEMENT-BINDING PROTEIN 1; SREBP1
Asterisk 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1 FUSHI TARAZU FACTOR, DROSOPHILA, HOMOLOG 1; FTZF1; FTZ1;; STEROIDOGENIC FACTOR 1; SF1;; ADRENAL 4 BINDING PROTEIN; AD4BP
NULL 184800 STERNUM, PREMATURE OBLITERATION OF SUTURES OF
Number Sign 184840 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA OSMED, HETEROZYGOUS;; WEISSENBACHER-ZWEYMULLER SYNDROME; WZS;; PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA STICKLER SYNDROME, NONOCULAR TYPE, FORMERLY;; STICKLER SYNDROME, TYPE III, FORMERLY; STL3, FORMERLY
Percent 184850 STIFF-PERSON SYNDROME; SPS STIFF-MAN SYNDROME;; STIFF-TRUNK SYNDROME PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY, INCLUDED; PERM, INCLUDED; PER, INCLUDED
Number Sign 184900 STIFF SKIN SYNDROME; SSKS
Number Sign 185000 OVERHYDRATED HEREDITARY STOMATOCYTOSIS; OHST OHS;; POTASSIUM-SODIUM DISORDER OF ERYTHROCYTE
Caret 185010 MOVED TO 194380
Number Sign 185020 CRYOHYDROCYTOSIS; CHC STOMATOCYTOSIS, COLD-SENSITIVE
Percent 185050 STORAGE POOL PLATELET DISEASE
NULL 185069 STORM SYNDROME
Number Sign 185070 STORMORKEN SYNDROME; STRMK THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS;; YORK PLATELET SYNDROME; YPS
Percent 185100 STRABISMUS, SUSCEPTIBILITY TO STRABISMUS, SUSCEPTIBILITY TO, 1, INCLUDED; STBMS1, INCLUDED
NULL 185120 STRATTON-PARKER SYNDROME GROWTH HORMONE DEFICIENCY WITH WORMIAN BONES, CARDIAC ANOMALY, AND BRACHYCAMPTODACTYLY
Percent 185200 STRIAE DISTENSAE, FAMILIAL
Asterisk 185250 MATRIX METALLOPROTEINASE 3; MMP3 STROMELYSIN I; STMY1; STR1; SL1;; TRANSIN
Asterisk 185260 MATRIX METALLOPROTEINASE 10; MMP10 STROMELYSIN II; STMY2; ST2; SL2
Asterisk 185261 MATRIX METALLOPROTEINASE 11; MMP11 STROMELYSIN III; STMY3
Number Sign 185300 STURGE-WEBER SYNDROME; SWS
Caret 185400 MOVED TO 150360
Asterisk 185430 CLUSTERIN; CLU SULFATED GLYCOPROTEIN 2; SGP2;; APOLIPOPROTEIN J; APOJ;; COMPLEMENT-ASSOCIATED PROTEIN SP-40,40;; COMPLEMENT LYSIS INHIBITOR; CLI;; TESTOSTERONE-REPRESSED PROSTATE MESSAGE 2; TRPM2
Asterisk 185440 SUPPRESSOR OF TUMORIGENICITY 2; ST2
Caret 185450 REMOVED FROM DATABASE
NULL 185460 SULFHEMOGLOBINEMIA, CONGENITAL
Asterisk 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB SUCCINATE DEHYDROGENASE 2, S. CEREVISIAE, HOMOLOG OF;; SDH2, HOMOLOG OF
NULL 185480 SUPRABULBAR PARESIS, CONGENITAL WORSTER-DROUGHT SYNDROME
Asterisk 185490 SUPEROXIDE DISMUTASE 3; SOD3 SUPEROXIDE DISMUTASE, EXTRACELLULAR;; EC-SOD SUPEROXIDE DISMUTASE, ELEVATED EXTRACELLULAR, INCLUDED
Number Sign 185500 SUPRAVALVULAR AORTIC STENOSIS; SVAS SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE
Asterisk 185510 SURFACE ANTIGEN 5; S5
Asterisk 185520 SURFACE ANTIGEN 6; S6
Asterisk 185535 EPITHELIAL CELLULAR ADHESION MOLECULE; EPCAM TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 1; TACSTD1;; ANTIGEN DEFINED BY MONOCLONAL ANTIBODY AUAI; MIC18;; MEMBRANE COMPONENT, CHROMOSOME 4, SURFACE MARKER 1; M4S1;; GASTROINTESTINAL TUMOR-ASSOCIATED ANTIGEN 2, 35-KD GLYCOPROTEIN;; GA733-2
NULL 185540 SURFACE ANTIGEN, GLYCOPROTEIN 75 SURFACE GLYCOPROTEIN 75; SGP75
Asterisk 185560 SURFACE ANTIGEN 8; S8
Asterisk 185570 SURFACE ANTIGEN 17; SA17 S9
Asterisk 185580 SURFACE ANTIGEN 22; S13
Asterisk 185590 SURFACE ANTIGEN 21; S14
Caret 185595 REMOVED FROM DATABASE
NULL 185600 SYMPHALANGISM OF TOES
Asterisk 185605 SYNAPTOTAGMIN 1; SYT1 p65
NULL 185610 SURFACE POLYPEPTIDES, ANONYMOUS SPA2;; SPA5
Asterisk 185620 SURFEIT 1; SURF1
Asterisk 185630 SURFEIT 2; SURF2
Asterisk 185640 RIBOSOMAL PROTEIN L7a; RPL7A SURFEIT 3; SURF3
Asterisk 185641 MEDIATOR COMPLEX SUBUNIT 22; MED22 SURFEIT 5; SURF5
Asterisk 185642 SURFEIT 6; SURF6
NULL 185650 SYMPHALANGISM, C. S. LEWIS TYPE THUMBS, STIFF
Asterisk 185660 SURFEIT 4; SURF4 ERV29, S. CEREVISIAE, HOMOLOG OF; ERV29
Percent 185700 SYMPHALANGISM, DISTAL SYM2
NULL 185750 SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET
Number Sign 185800 SYMPHALANGISM, PROXIMAL, 1A; SYM1A SYM1;; CUSHING SYMPHALANGISM;; HEREDITARY ABSENCE OF THE PROXIMAL INTERPHALANGEAL JOINTS
Asterisk 185860 SYNAPTIC VESICLE GLYCOPROTEIN 2A; SV2A SYNAPTIC VESICLE GLYCOPROTEIN 2; SV2
Asterisk 185861 SYNAPTIC VESICLE GLYCOPROTEIN 2B; SV2B KIAA0735
Asterisk 185880 VESICLE-ASSOCIATED MEMBRANE PROTEIN 1; VAMP1 SYNAPTOBREVIN 1; SYB1
Asterisk 185881 VESICLE-ASSOCIATED MEMBRANE PROTEIN 2; VAMP2 SYNAPTOBREVIN 2; SYB2
Number Sign 185900 CHROMOSOME 2q35 DUPLICATION SYNDROME SYNDACTYLY, TYPE I; SDTY1;; SD1;; ZYGODACTYLY CRANIOSYNOSTOSIS, PHILADELPHIA TYPE, INCLUDED
Number Sign 186000 SYNPOLYDACTYLY 1; SPD1 SYNDACTYLY, TYPE II; SDTY2
Number Sign 186100 SYNDACTYLY, TYPE III SDTY3;; RING AND LITTLE FINGER SYNDACTYLY;; SYNDACTYLY OF FINGERS IV AND V
Number Sign 186200 SYNDACTYLY, TYPE IV; SDTY4 HAAS TYPE SYNDACTYLY;; POLYSYNDACTYLY, HAAS TYPE;; SD4
Number Sign 186300 SYNDACTYLY, TYPE V; SDTY5 SYNDACTYLY WITH METACARPAL AND METATARSAL FUSION
Percent 186350 SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME SPEL SYNDROME
Asterisk 186355 SYNDECAN 1; SDC1 SYND1;; SYNDECAN; SDC;; CD138 ANTIGEN; CD138
Asterisk 186357 SYNDECAN 3; SDC3 SYND3;; SYNDECAN, NEURAL TYPE;; N-SYNDECAN; SDCN
Asterisk 186360 ANNEXIN A7; ANXA7 ANNEXIN VII; ANX7;; SYNEXIN; SNX
Percent 186400 SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL CALCANEONAVICULAR COALITION
Number Sign 186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY;; SYMPHALANGISM-BRACHYDACTYLY SYNDROME;; WL SYNDROME;; DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN;; FACIOAUDIOSYMPHALANGISM SYNDROME
Number Sign 186550 LIEBENBERG SYNDROME; LBNBG SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY;; BRACHYDACTYLY WITH JOINT DYSPLASIA
Number Sign 186570 TARSAL-CARPAL COALITION SYNDROME; TCC SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, INCLUDED
NULL 186575 SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM
Number Sign 186580 BLAU SYNDROME; BLAUS SARCOIDOSIS, EARLY-ONSET; EOS;; GRANULOMATOSIS, FAMILIAL JUVENILE SYSTEMIC;; ARTHROCUTANEOUVEAL GRANULOMATOSIS; ACUG;; JABS SYNDROME;; GRANULOMATOUS INFLAMMATORY ARTHRITIS, DERMATITIS, AND UVEITIS, FAMILIAL;; GRANULOMATOSIS, FAMILIAL, BLAU TYPE
Asterisk 186590 SYNTAXIN 1A; STX1A SYNTAXIN 1; STX1;; SYNTAXIN, BRAIN;; p35-1
Asterisk 186591 SYNTAXIN 4; STX4 STX4A;; SYNTAXIN, PLACENTAL;; p35-2
NULL 186600 SYRINGOMAS, MULTIPLE
Caret 186690 REMOVED FROM DATABASE
Percent 186700 SYRINGOMYELIA, NONCOMMUNICATING ISOLATED
Asterisk 186710 T-CELL ACTIVATION ANTIGEN p250; TP250
Asterisk 186711 CD27 ANTIGEN; CD27 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 7; TNFRSF7;; T-CELL ACTIVATION ANTIGEN S152; S152
Asterisk 186720 CD6 ANTIGEN; CD6 T-CELL DIFFERENTIATION ANTIGEN CD6
Asterisk 186730 CD8 ANTIGEN, BETA POLYPEPTIDE; CD8B T-CELL GLYCOPROTEIN CD8B;; CD8B1
Asterisk 186740 CD3 ANTIGEN, GAMMA SUBUNIT; CD3G CD3-GAMMA;; T-CELL ANTIGEN RECEPTOR COMPLEX, GAMMA SUBUNIT OF T3; T3G
Asterisk 186745 TALIN 1; TLN1 TALIN; TLN
NULL 186750 TALONAVICULAR COALITION
Asterisk 186760 ANTIGEN CD28; CD28 T-CELL ANTIGEN CD28;; Tp44
Asterisk 186770 T-CELL LEUKEMIA, HOMEOBOX 1; TLX1 HOMEOBOX 11; HOX11;; T-CELL LEUKEMIA 3 GENE; TCL3
Asterisk 186780 CD247 ANTIGEN; CD247 CD3 ANTIGEN, ZETA SUBUNIT; CD3Z;; CD3-ZETA;; T-CELL ANTIGEN RECEPTOR COMPLEX, ZETA SUBUNIT OF CD3; TCRZ
Asterisk 186790 CD3 ANTIGEN, DELTA SUBUNIT; CD3D CD3-DELTA;; T-CELL ANTIGEN RECEPTOR COMPLEX, DELTA SUBUNIT OF T3; T3D;; OKT3, DELTA CHAIN
Asterisk 186810 T-CELL RECEPTOR DELTA CHAIN CONSTANT REGION; TRDC
Asterisk 186820 T-CELL ANTIGEN CD7; CD7 Tp41
Asterisk 186830 CD3 ANTIGEN, EPSILON SUBUNIT; CD3E CD3-EPSILON;; T-CELL ANTIGEN RECEPTOR COMPLEX, EPSILON SUBUNIT OF T3; T3E; TCRE
Asterisk 186845 CD81 ANTIGEN; CD81 TARGET OF ANTIPROLIFERATIVE ANTIBODY 1; TAPA1
Percent 186850 TARSAL COALITION TARSAL FUSION
Asterisk 186852 PROTEASOME 26S SUBUNIT, ATPase, 3; PSMC3 TAT-BINDING PROTEIN 1; TBP1
Asterisk 186854 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, TAURINE), MEMBER 6; SLC6A6 TAURINE TRANSPORTER; TAUT
Asterisk 186855 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 2; TAL2
Asterisk 186860 T-CELL LEUKEMIA/LYMPHOMA 4; TCL4
Asterisk 186880 T-CELL RECEPTOR ALPHA CHAIN CONSTANT REGION; TRAC
Percent 186890 TEAR PROTEIN, ANODAL
Asterisk 186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A p32;; OKT8 T-CELL ANTIGEN;; T8 T-CELL ANTIGEN; CD8 T-CELL ANTIGEN LEU2, INCLUDED; LEU2, INCLUDED;; LEU2 T-LYMPHOCYTE ANTIGEN, INCLUDED
Caret 186920 REMOVED FROM DATABASE
Asterisk 186921 LIM DOMAIN ONLY 1; LMO1 RHOMBOTIN 1; RBTN1;; RHOMBOSINE; RHOM1;; T-CELL TRANSLOCATION GENE 1; TTG1
Asterisk 186930 T-CELL RECEPTOR BETA CHAIN CONSTANT REGION 1; TRBC1
Asterisk 186940 CD4 ANTIGEN; CD4 T-CELL ANTIGEN T4/LEU3
Asterisk 186945 FK506-BINDING PROTEIN 1A; FKBP1A FK506-BINDING PROTEIN 1; FKBP1;; FK506-BINDING PROTEIN, 12-KD; FKBP12;; FK506-BINDING PROTEIN, T-CELL, 12-KD;; CALSTABIN 1
Asterisk 186946 FK506-BINDING PROTEIN 2; FKBP2 FK506-BINDING PROTEIN, T-CELL, 13-KD; FKBP13
Asterisk 186947 FK506-BINDING PROTEIN 3; FKBP3 FK506-BINDING PROTEIN, T-CELL, 25-KD; FKBP25
NULL 186950 T-CELL SUBGROUPS, NON-HLA-LINKED
Asterisk 186960 T-CELL LEUKEMIA/LYMPHOMA 1A; TCL1A TCL1;; LYMPHOMA/LEUKEMIA, T-CELL
Asterisk 186970 T-CELL RECEPTOR GAMMA CHAIN CONSTANT REGION 1; TRGC1
Asterisk 186973 IL2-INDUCIBLE T-CELL KINASE; ITK TYROSINE KINASE EXPRESSED MAINLY IN T CELLS; EMT;; T-CELL ITK/TSK TYROSINE KINASE, MOUSE, HOMOLOG OF
Asterisk 186975 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1; TCTE1
Asterisk 186977 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 3; TCTE3
Asterisk 186980 T-COMPLEX 1; TCP1 T-COMPLEX HOMOLOG TCP1
Asterisk 186982 T-COMPLEX HOMOLOG TCP11; TCP11
Asterisk 186990 T-LYMPHOCYTE SURFACE CD2 ANTIGEN; CD2 T11;; SHEEP ERYTHROCYTE RECEPTOR; SRBC
Percent 187000 TEETH, ODD SHAPES OF LOBODONTIA, INCLUDED;; CONICAL TEETH, MULTIPLE, INCLUDED
Caret 187010 MOVED TO 187011
Asterisk 187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5 SMALL INDUCIBLE CYTOKINE A5; SCYA5;; REGULATED UPON ACTIVATION, NORMALLY T-EXPRESSED, AND PRESUMABLY SECRETED; RANTES;; T CELL-SPECIFIC RANTES;; T CELL-SPECIFIC PROTEIN p228; TCP228
Asterisk 187020 T-COMPLEX 10; TCP10 TCP10A
NULL 187030 T-COMPLEX LOCUS TCP10B; TCP10B
Asterisk 187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1 STEM CELL LEUKEMIA HEMATOPOIETIC TRANSCRIPTION FACTOR; SCL;; T-CELL LEUKEMIA/LYMPHOMA 5; TCL5
NULL 187050 TEETH PRESENT AT BIRTH NATAL TEETH
NULL 187100 TEETH, SUPERNUMERARY
Percent 187260 TELANGIECTASIA, HEREDITARY BENIGN HBT;; TELANGIECTASIA, GENERALIZED ESSENTIAL
Asterisk 187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT TELOMERASE CATALYTIC SUBUNIT; TCS1;; EST2
Asterisk 187280 POLYMERASE III, RNA, SUBUNIT D; POLR3D TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, tsBN51; BN51T;; TSBN51
NULL 187290 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, H142; H142T
Number Sign 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 HHT;; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; OSLER-RENDU-WEBER DISEASE;; ORW DISEASE
NULL 187310 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, K12 ts COMPLEMENTING, K12; K12T
NULL 187320 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts13; TS13
NULL 187330 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts546; TS546
NULL 187340 TEMPERATURE-SENSITIVE LETHAL MUTATION
NULL 187350 TELECANTHUS
NULL 187360 TEMPORAL ARTERITIS GIANT CELL ARTERITIS; GCA;; CRANIAL ARTERITIS;; POLYMYALGIA RHEUMATICA
Percent 187370 ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10 CONGENITAL PLANTAR CONTRACTURES;; TENDO CALCANEUS, SHORT
Asterisk 187380 TENASCIN C; TNC TENASCIN; TN;; CYTOTACTIN;; HEXABRACHION; HXB
NULL 187390 TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF
Plus 187395 TERATOCARCINOMA-DERIVED GROWTH FACTOR 1; TDGF1 CRIPTO GROWTH FACTOR; CRGF FOREBRAIN DEFECTS, INCLUDED
NULL 187400 TESTICULAR TORSION TORSION OF TESTICULAR CORD
Asterisk 187410 DEOXYNUCLEOTIDYLTRANSFERASE, TERMINAL; DNTT TERMINAL DEOXYNUCLEOTIDYLTRANSFERASE; TDT;; TERMINAL TRANSFERASE
Asterisk 187430 CYSTEINE-RICH SECRETORY PROTEIN 2; CRISP2 TESTIS-SPECIFIC PROTEIN 1; TPX1;; TSP1
Caret 187450 MOVED TO 182205
Number Sign 187500 TETRALOGY OF FALLOT; TOF
NULL 187501 TETRALOGY OF FALLOT AND GLAUCOMA
NULL 187510 TETRAMELIC MONODACTYLY
Asterisk 187520 TETRANECTIN; TNA
NULL 187550 THALASSEMIA, BETA+, SILENT ALLELE
Number Sign 187600 THANATOPHORIC DYSPLASIA, TYPE I; TD1 THANATOPHORIC DYSPLASIA; TD;; THANATOPHORIC DWARFISM;; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE;; LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE
Number Sign 187601 THANATOPHORIC DYSPLASIA, TYPE II; TD2 THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL;; THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL;; CLOVERLEAF SKULL WITH THANATOPHORIC DWARFISM
Percent 187650 THEOPHYLLINE BIOTRANSFORMATION
Asterisk 187680 THIOPURINE S-METHYLTRANSFERASE; TPMT
Asterisk 187700 THIOREDOXIN; TXN TRX;; TRX1
NULL 187750 THORACIC DYSOSTOSIS, ISOLATED
NULL 187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD BARNES SYNDROME
NULL 187770 THORACOPELVIC DYSOSTOSIS
Asterisk 187790 THREONYL-tRNA SYNTHETASE; TARS THRRS
Number Sign 187800 BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16 GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT;; THROMBASTHENIA OF GLANZMANN AND NAEGELI, AUTOSOMAL DOMINANT
Number Sign 187900 BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17 THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY
Asterisk 187930 COAGULATION FACTOR II RECEPTOR; F2R CF2R;; THROMBIN RECEPTOR; TR;; PROTEASE-ACTIVATED RECEPTOR 1; PAR1
NULL 187940 THROMBOCYTE B; THB
Number Sign 187950 THROMBOCYTHEMIA 1; THCYT1 THROMBOCYTOSIS 1
Number Sign 188000 THROMBOCYTOPENIA 2; THC2 THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2
NULL 188020 THROMBOCYTOPENIA, CYCLIC
Number Sign 188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT CHROMOSOME 11q23 DELETION SYNDROME
NULL 188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; AITP IMMUNE THROMBOCYTOPENIC PURPURA; ITP;; IDIOPATHIC THROMBOCYTOPENIC PURPURA
Asterisk 188035 PRO-PLATELET BASIC PROTEIN-LIKE 1; PPBPL1 THROMBOGLOBULIN, BETA-2; TGB2
Asterisk 188040 THROMBOMODULIN; THBD THRM;; CD141 ANTIGEN; CD141
Number Sign 188050 THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1 THROMBOPHILIA DUE TO FACTOR 2 DEFECT;; VENOUS THROMBOSIS;; VENOUS THROMBOEMBOLISM THROMBOSIS, PROTECTION AGAINST, INCLUDED
Number Sign 188055 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2 ACTIVATED PROTEIN C RESISTANCE;; APC RESISTANCE;; THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR;; PROC COFACTOR DEFICIENCY;; PCCF DEFICIENCY;; THROMBOPHILIA V THROMBOPHILIA DUE TO FACTOR V LEIDEN, INCLUDED
Asterisk 188060 THROMBOSPONDIN I; THBS1 TSP1
Asterisk 188061 THROMBOSPONDIN II; THBS2 TSP2
Asterisk 188062 THROMBOSPONDIN III; THBS3
Asterisk 188070 THROMBOXANE A2 RECEPTOR, PLATELET; TBXA2R
NULL 188100 THUMB DEFORMITY
NULL 188150 THUMB DEFORMITY AND ALOPECIA
Caret 188200 MOVED TO 107000
NULL 188201 THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY
Asterisk 188230 THY-1 T-CELL ANTIGEN; THY1 THETA ANTIGEN;; CD90 ANTIGEN; CD90
Asterisk 188250 THYMIDINE KINASE, MITOCHONDRIAL; TK2
Asterisk 188300 THYMIDINE KINASE, SOLUBLE; TK1
Asterisk 188340 THYMOCYTE ANTIGEN CD1C; CD1C BDCA1
Asterisk 188345 DEOXYTHYMIDYLATE KINASE; DTYMK THYMIDYLATE KINASE; TYMK;; CDC8
Asterisk 188350 THYMIDYLATE SYNTHETASE; TYMS THYMIDYLATE SYNTHASE; TS; TMS;; dTMP SYNTHASE
Asterisk 188360 THYMOCYTE ANTIGEN CD1B; CD1B
Asterisk 188370 THYMOCYTE ANTIGEN CD1A; CD1A CD1
Asterisk 188380 THYMOPOIETIN; TMPO TP;; LAMINA-ASSOCIATED POLYPEPTIDE 2; LAP2
Asterisk 188390 PROTHYMOSIN, ALPHA; PTMA THYMOSIN, ALPHA
Caret 188395 MOVED TO 300159
Asterisk 188399 THYMOSIN, BETA-10; TMSB10
Number Sign 188400 DIGEORGE SYNDROME; DGS CHROMOSOME 22q11.2 DELETION SYNDROME;; HYPOPLASIA OF THYMUS AND PARATHYROIDS;; THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED;; TAKAO VCF SYNDROME, INCLUDED;; CATCH22, INCLUDED
Asterisk 188410 THYMOCYTE ANTIGEN CD1D; CD1D
Asterisk 188411 THYMOCYTE ANTIGEN CD1E; CD1E
Asterisk 188450 THYROGLOBULIN; TG
NULL 188455 THYROGLOSSAL DUCT CYST, FAMILIAL
Number Sign 188470 THYROID CANCER, NONMEDULLARY, 2; NMTC2
Caret 188530 MOVED TO 118850
Asterisk 188540 THYROID-STIMULATING HORMONE, BETA CHAIN; TSHB THYROTROPIN, BETA CHAIN;; TSH-BETA
Plus 188545 THYROTROPIN-RELEASING HORMONE RECEPTOR; TRHR THYROTROPIN-RELEASING HORMONE RESISTANCE, GENERALIZED, INCLUDED
Number Sign 188550 THYROID CANCER, NONMEDULLARY, 1; NMTC1 PAPILLARY CARCINOMA OF THYROID; PACT; PTC; TPC;; FAMILIAL NONMEDULLARY THYROID CANCER, PAPILLARY;; NONMEDULLARY THYROID CARCINOMA, PAPILLARY
Caret 188555 MOVED TO 179050
NULL 188560 THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT HYPERTHYROXINEMIA, EUMETABOLIC, DUE TO T4 PLASMA MEMBRANE TRANSPORT;; DEFECT;; THYROID HORMONE RESISTANCE DUE TO T4 PLASMA MEMBRANE TRANSPORT DEFECT
Number Sign 188570 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH GTHR;; THYROID HORMONE UNRESPONSIVENESS;; HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
Number Sign 188580 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1
Caret 188590 MOVED TO 190120
Asterisk 188595 THYROTROPH EMBRYONIC FACTOR; TEF
Caret 188600 MOVED TO 314200
NULL 188700 BLOUNT DISEASE, INFANTILE OSTEOCHONDROSIS DEFORMANS TIBIAE, INFANTILE;; TIBIA VARA, INFANTILE
Number Sign 188740 TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY; THYP TIBIAL HEMIMELIA-POLYDACTYLY-TRIPHALANGEAL THUMBS WITH FIBULAR DIMELIA
Caret 188770 MOVED TO 188740
Percent 188800 TIBIAL TORSION, BILATERAL MEDIAL
Asterisk 188825 TISSUE INHIBITOR OF METALLOPROTEINASE 2; TIMP2
Asterisk 188826 TISSUE INHIBITOR OF METALLOPROTEINASE 3; TIMP3
Asterisk 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A PROTEIN KINASE A, RI-ALPHA SUBUNIT;; TISSUE-SPECIFIC EXTINGUISHER 1; TSE1 PRKAR1A/RARA FUSION GENE, INCLUDED;; PTC2 CHIMERIC ONCOGENE, INCLUDED
Asterisk 188840 TITIN; TTN CONNECTIN
NULL 188850 TL ANTIGEN THYMUS LEUKEMIA ANTIGEN; TLA;; HISTOCOMPATIBILITY 2, T-REGION LOCUS 18; H2-T18
Asterisk 188855 GRANULYSIN; GNLY T-LYMPHOCYTE ACTIVATION GENE 519; TLA519;; D2S69E;; NKG5
Asterisk 188860 MYELIN AND LYMPHOCYTE PROTEIN; MAL T-LYMPHOCYTE MATURATION-ASSOCIATED PROTEIN;; T-CELL DIFFERENTIATION PROTEIN
Number Sign 188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO CIGARETTE HABITUATION, SUSCEPTIBILITY TO;; SMOKING HABIT, SUSCEPTIBILITY TO;; NICOTINE DEPENDENCE, SUSCEPTIBILITY TO;; NICOTINE ADDICTION, SUSCEPTIBILITY TO
NULL 189000 TOE, FIFTH, NUMBER OF PHALANGES IN
NULL 189100 TOE, MISSHAPEN
NULL 189150 TOE, ROTATED FIFTH
NULL 189200 TOES, RELATIVE LENGTH OF FIRST AND SECOND
NULL 189230 TOES, SPACE BETWEEN FIRST AND SECOND
NULL 189300 TONGUE CURLING, FOLDING, OR ROLLING CLOVERLEAF TONGUE, INCLUDED;; TREFOIL TONGUE, INCLUDED
NULL 189490 MALPOSITION OF TEETH WITH OR WITHOUT HYPODONTIA/OLIGODONTIA ECTOPIC ERUPTION OF TEETH
Number Sign 189500 WITKOP SYNDROME ECTODERMAL DYSPLASIA 3, WITKOP TYPE; ECTD3;; ECTODERMAL DYSPLASIA 3, TOOTH/NAIL TYPE;; NAIL DYSPLASIA WITH HYPODONTIA;; TOOTH-AND-NAIL SYNDROME; TNS
NULL 189600 TORTICOLLIS
Percent 189700 TORUS PALATINUS AND TORUS MANDIBULARIS
Percent 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1 PREG1;; PEE;; TOXEMIA OF PREGNANCY HYPERTENSION, PREGNANCY-INDUCED, INCLUDED;; HEMOLYSIS, ELEVATED LIVER ENZYMES, AND LOW PLATELET COUNT, INCLUDED; HELLP, INCLUDED
Asterisk 189880 TRANSFER RNA ASPARAGINE 1; TRNAN1 tRNA ASPARAGINE 1; TRN1;; TRN
Asterisk 189889 TRANSCRIPTION FACTOR CP2; TFCP2 ALPHA-GLOBIN TRANSCRIPTION FACTOR CP2;; LATE SV40 FACTOR; LSF LBP1C, INCLUDED;; LBP1D, INCLUDED
Asterisk 189890 TRANSFER RNA ASPARAGINE-LIKE; TRNL
Asterisk 189901 TRANSCRIPTION FACTOR 9; TCF9 TRANSCRIPTIONAL REPRESSOR GCF
Asterisk 189902 TRANSCRIPTION FACTOR DP1; TFDP1 E2F DIMERIZATION PARTNER 1; DP1;; TRANSCRIPTION FACTOR, SEQUENCE-SPECIFIC, DRTF1
Asterisk 189903 NUCLEAR TRANSCRIPTION FACTOR Y, ALPHA; NFYA TRANSCRIPTION FACTOR NF-Y, A SUBUNIT;; NUCLEAR FACTOR BINDING TO Y BOX OF HLA GENES;; HAP2 CCAAT-BINDING PROTEIN
Asterisk 189904 NUCLEAR TRANSCRIPTION FACTOR Y, BETA; NFYB TRANSCRIPTION FACTOR NF-Y, B SUBUNIT
Asterisk 189905 TRANSCOBALAMIN I; TCN1 TC I;; TC1;; HAPTOCORRIN;; VITAMIN B12-BINDING PROTEIN 1;; COBALOPHILIN;; B12-BINDING ALPHA-GLOBULIN
Asterisk 189906 TRANSCRIPTION FACTOR Sp1; SP1 SPECIFICITY PROTEIN 1
Asterisk 189907 HNF1 HOMEOBOX B; HNF1B TRANSCRIPTION FACTOR 2; TCF2;; TRANSCRIPTION FACTOR, LIVER-SPECIFIC, 3;; HEPATOCYTE NUCLEAR FACTOR-1-BETA;; HEPATIC NUCLEAR FACTOR-1-BETA;; HEPATOCYTE NUCLEAR FACTOR 2; HNF2
Asterisk 189908 TRANSCRIPTION FACTOR 7; TCF7 TRANSCRIPTION FACTOR, T CELL-SPECIFIC, 1;; T CELL FACTOR 1; TCF1
Asterisk 189909 ZINC FINGER E BOX-BINDING HOMEOBOX 1; ZEB1 TRANSCRIPTION FACTOR 8; TCF8;; T-LYMPHOCYTE-SPECIFIC INTERLEUKIN 2 INHIBITOR;; DELTA-EF1;; NIL2A
Asterisk 189910 TRANSFER RNA SERINE (AGA) 2-4; TRS-AGA2-4 TRANSFER RNA SERINE 2; TRNAS2;; tRNA SERINE 2; TRS2;; tRNA-SER; TRNS
Asterisk 189911 TRANSFER RNA GLYCINE 1; TRNAG1 TRANSFER RNA GLYCINE-CCC-1; TRG1
Asterisk 189912 TRANSFER RNA PROLINE (TGG) 3-5; TRP-TGG3-5 TRANSFER RNA PROLINE 3; TRNAP3;; TRP3
Asterisk 189913 TRANSFER RNA THREONINE (TGT) 6-1; TRT-TGT6-1 TRANSFER RNA THREONINE 1; TRNAT1;; TRT1
Asterisk 189918 TRANSFER RNA LYSINE (TTT) 3-4; TRK-TTT3-4 TRANSFER RNA LYSINE 1; TRNAK1;; tRNA LYSINE 1; TRK1;; tRNA LYSINE 1 (UUU)
Asterisk 189919 TRANSFER RNA GLUTAMINE 1; TRNAQ1 tRNA GLUTAMINE 1; TRQ1
Asterisk 189920 TRANSFER RNA LEUCINE 2; TRNAL2 tRNA LEUCINE 2; TRL2
Asterisk 189921 TRANSFER RNA VALINE (AAC) 1-4; TRV-AAC1-4 TRANSFER RNA VALINE 1; TRNAV1;; tRNA VALINE 1; TRV1
Asterisk 189923 TRANSFER RNA GLUTAMINE 2; TRNAQ2 tRNA GLUTAMINE 2; TRQ2
Asterisk 189930 TRANSFER RNA PROLINE 1; TRNAP1 tRNA PROLINE 1; TRP1
Asterisk 189931 TRANSFER RNA PROLINE 2; TRNAP2 tRNA PROLINE 2; TRP2
Asterisk 189932 TRANSFER RNA LEUCINE (AAG) 2-1; TRL-AAG2-1 TRANSFER RNA LEUCINE 1; TRNAL1;; tRNA LEUCINE 1; TRL1
Asterisk 189933 TRANSFER RNA THREONINE 2; TRNAT2 tRNA THREONINE 2; TRT2
Asterisk 189940 TRANSLOCATED PROMOTER REGION; TPR TUMOR POTENTIATING REGION
NULL 189960 TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA ESOPHAGEAL ATRESIA WITH OR WITHOUT TRACHEOESOPHAGEAL FISTULA
NULL 189961 TRACHEOPATHIA OSTEOPLASTICA TRACHEOBRONCHOPATHIA OSTEOCHONDROPLASTICA
Asterisk 189962 GENERAL TRANSCRIPTION FACTOR IIE, POLYPEPTIDE 1; GTF2E1 TRANSCRIPTION FACTOR IIE, ALPHA SUBUNIT;; TFIIE, ALPHA SUBUNIT; TF2E1
Asterisk 189963 GENERAL TRANSCRIPTION FACTOR IIB; GTF2B RNA POLYMERASE II TRANSCRIPTION FACTOR IIB; TFIIB; TF2B;; TRANSCRIPTION FACTOR IIB
Asterisk 189964 GENERAL TRANSCRIPTION FACTOR IIE, POLYPEPTIDE 2; GTF2E2 TRANSCRIPTION FACTOR IIE, BETA SUBUNIT;; TFIIE, BETA SUBUNIT; TF2E2
Asterisk 189965 CCAAT/ENHANCER-BINDING PROTEIN, BETA; CEBPB C/EBP-BETA;; INTERLEUKIN 6-DEPENDENT DNA-BINDING PROTEIN; IL6DBP;; LIVER ACTIVATOR PROTEIN; LAP;; LIVER-ENRICHED TRANSCRIPTIONAL ACTIVATOR PROTEIN;; TRANSCRIPTION FACTOR 5; TCF5;; NFIL6
Asterisk 189967 TEA DOMAIN FAMILY MEMBER 1; TEAD1 TRANSCRIPTION FACTOR 13; TCF13;; TRANSCRIPTIONAL ENHANCER FACTOR 1; TEF1
Asterisk 189968 GENERAL TRANSCRIPTION FACTOR IIF, POLYPEPTIDE 1, 74-KD; GTF2F1 TRANSCRIPTION FACTOR IIF, ALPHA SUBUNIT;; TFIIF ALPHA;; TF2F1;; RAP74
Asterisk 189969 GENERAL TRANSCRIPTION FACTOR IIF, POLYPEPTIDE 2, 30-KD; GTF2F2 TRANSCRIPTION FACTOR IIF, BETA SUBUNIT; TF2F2;; TFIIF BETA;; RAP30
Asterisk 189970 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-TRANSDUCING ACTIVITY POLYPEPTIDE 1; GNGT1 TRANSDUCIN, GAMMA POLYPEPTIDE
Asterisk 189971 E2F TRANSCRIPTION FACTOR 1; E2F1 TRANSCRIPTION FACTOR E2F;; RETINOBLASTOMA-BINDING PROTEIN 3; RBP3;; RETINOBLASTOMA-ASSOCIATED PROTEIN 1; RBAP1
Asterisk 189972 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 1; GTF2H1 GTF2H, 62-KD SUBUNIT;; TRANSCRIPTION FACTOR IIH, 62-KD SUBUNIT;; TFIIH, 62-KD SUBUNIT;; TFB1
Asterisk 189973 E74-LIKE FACTOR 1; ELF1 ETS-RELATED TRANSCRIPTION FACTOR ELF1
Caret 189974 MOVED TO 139380
Asterisk 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1 TRANSFORMATION GENE: ONCOGENE ABL;; ABELSON STRAIN OF MURINE LEUKEMIA VIRUS; ABL ABL1/BCR FUSION GENE, INCLUDED;; ABL1/NUP214 FUSION GENE, INCLUDED
Asterisk 189990 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG; MYB ONCOGENE MYB;; AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG;; ONCOGENE AMV
Asterisk 190000 TRANSFERRIN; TF
Asterisk 190010 TRANSFERRIN RECEPTOR; TFRC TRANSFERRIN RECEPTOR 1; TFR1;; TFR;; TRFR;; CD71
Asterisk 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS HRAS1;; HARVEY MURINE SARCOMA VIRUS ONCOGENE; RASH1;; p21(RAS);; p21;; TRANSFORMATION GENE: ONCOGENE HAMSV
Asterisk 190030 V-FES FELINE SARCOMA VIRAL/V-FPS FUJINAMI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; FES ONCOGENE FES;; FELINE SARCOMA VIRUS;; FPS
Asterisk 190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB V-SIS PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE;; PLATELET-DERIVED GROWTH FACTOR, B CHAIN;; PDGF, B CHAIN;; PDGF2;; ONCOGENE SIS;; SIMIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SSV PDGFB/COL1A1 FUSION GENE, INCLUDED
Asterisk 190060 V-MOS MOLONEY MURINE SARCOMA VIRAL ONCOGENE HOMOLOG; MOS MOLONEY MURINE SARCOMA VIRUS; MSV;; ONCOGENE MOS
Asterisk 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS ONCOGENE KRAS2; KRAS2;; KIRSTEN MURINE SARCOMA VIRUS 2; RASK2;; C-KRAS V-KI-RAS1 PSEUDOGENE, INCLUDED; KRAS1P, INCLUDED;; ONCOGENE KRAS1, INCLUDED; KRAS1, INCLUDED;; KIRSTEN RAS1, INCLUDED; RASK1, INCLUDED
Asterisk 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC ONCOGENE MYC;; AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG;; PROTOONCOGENE HOMOLOGOUS TO MYELOCYTOMATOSIS VIRUS
Asterisk 190090 V-SRC AVIAN SARCOMA (SCHMIDT-RUPPIN A-2) VIRAL ONCOGENE; SRC ONCOGENE SRC;; PROTOONCOGENE SRC;; SRC ONCOGENE;; AVIAN SARCOMA VIRUS; ASV
Percent 190100 GENIOSPASM 1; GSM1 TREMBLING CHIN
Caret 190110 MOVED TO 190070
Asterisk 190120 THYROID HORMONE RECEPTOR, ALPHA-1; THRA THYROID HORMONE RECEPTOR, CENTRAL NERVOUS SYSTEM FORM; THRA1;; ERBA-ALPHA;; ONCOGENE ERBA; ERBA;; ERBA-RELATED 7; EAR7;; V-ERB-A AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ERBA1 THYROID HORMONE RECEPTOR, ALPHA-2, INCLUDED; THRA2, INCLUDED;; THYROID HORMONE RECEPTOR, ALPHA-3, INCLUDED; THRA3, INCLUDED
Asterisk 190151 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3 ONCOGENE ERBB3;; TYROSINE KINASE-TYPE CELL SURFACE RECEPTOR HER3; HER3
Asterisk 190160 THYROID HORMONE RECEPTOR, BETA; THRB V-ERB-A AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBA2;; ONCOGENE ERBA2;; ERBA-BETA
Asterisk 190170 TRANSFORMING GROWTH FACTOR, ALPHA; TGFA
Asterisk 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1 TGF-BETA; TGFB
Asterisk 190181 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1 ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5
Asterisk 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2
Caret 190190 MOVED TO 154280
Asterisk 190195 TRANSGLUTAMINASE 1; TGM1 TRANSGLUTAMINASE, KERATINOCYTE; TGK;; TRANSGLUTAMINASE, EPIDERMAL TYPE I
Asterisk 190196 TRANSGLUTAMINASE 2; TGM2 TRANSGLUTAMINASE, TISSUE;; TRANSGLUTAMINASE C; TGC;; GUANINE NUCLEOTIDE-BINDING PROTEIN, H POLYPEPTIDE; GNAH;; G PROTEIN, ALPHA SUBUNIT, Gh CLASS;; G-ALPHA-h
Asterisk 190197 CONTACTIN 2; CNTN2 TRANSIENTLY-EXPRESSED AXONAL GLYCOPROTEIN; TAX1;; TAG1, RAT, HOMOLOG OF;; AXONIN 1
Asterisk 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1 TRANSLOCATION-ASSOCIATED NOTCH HOMOLOG; TAN1
NULL 190200 TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS
Asterisk 190220 TRANSFORMING GROWTH FACTOR, BETA-2; TGFB2
Asterisk 190230 TRANSFORMING GROWTH FACTOR, BETA-3; TGFB3
Asterisk 190231 TRANSITION PROTEIN 1; TNP1 TP1
Asterisk 190232 TRANSITION PROTEIN 2; TNP2
Number Sign 190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 TREMOR, FAMILIAL ESSENTIAL, 1; FET1
Percent 190310 TREMOR, NYSTAGMUS, AND DUODENAL ULCER
Asterisk 190315 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, CITRATE TRANSPORTER), MEMBER 1; SLC25A1 SOLUTE CARRIER FAMILY 20, MEMBER 3, FORMERLY; SLC20A3, FORMERLY;; TRICARBOXYLATE TRANSPORT PROTEIN, MITOCHONDRIAL;; CITRATE TRANSPORT PROTEIN; CTP;; SCHEGGIA, DROSOPHILA, HOMOLOG OF; SEA
Number Sign 190320 TRICHODENTOOSSEOUS SYNDROME; TDO TDO SYNDROME
Number Sign 190330 TRICHOMEGALY; TCMGLY EYELASHES, LONG
Percent 190340 DISCOID FIBROMAS, FAMILIAL MULTIPLE; FMDF TRICHODISCOMAS, FAMILIAL MULTIPLE
NULL 190345 TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC
Number Sign 190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 TRPS I
Number Sign 190351 TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3 SUGIO-KAJII SYNDROME
NULL 190360 TRICHODYSPLASIA-XERODERMA
Asterisk 190370 TRICHOHYALIN; TCHH THH;; THL;; TRHY
NULL 190400 TRIGEMINAL NEURALGIA TIC DOULOUREUX
NULL 190410 TRIGGER THUMB
NULL 190420 TRIGLYCERIDE STORAGE DISEASE, TYPE I
NULL 190430 TRIGLYCERIDE STORAGE DISEASE, TYPE II
Number Sign 190440 TRIGONOCEPHALY 1; TRIGNO1 CRANIOSYNOSTOSIS, METOPIC
NULL 190445 TRIIODOTHYRONINE RECEPTOR AUXILIARY PROTEIN; TRAP
Asterisk 190450 TRIOSEPHOSPHATE ISOMERASE 1; TPI1 TPI
Asterisk 190470 TRIPEPTIDYL PEPTIDASE II; TPP2
NULL 190500 TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES
Percent 190600 TRIPHALANGEAL THUMB, NONOPPOSABLE
Caret 190605 MOVED TO 174500
NULL 190650 TRIPHALANGEAL THUMBS AND DISLOCATION OF PATELLA
Percent 190680 TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY
Number Sign 190685 DOWN SYNDROME TRISOMY 21 DOWN SYNDROME CHROMOSOME REGION, INCLUDED; DCR, INCLUDED;; DOWN SYNDROME CRITICAL REGION, INCLUDED; DSCR, INCLUDED;; TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME, INCLUDED;; LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, INCLUDED
Asterisk 190700 ZINC FINGER PROTEIN 36, MOUSE, HOMOLOG OF; ZFP36 TRISTETRAPROLIN; TTP
NULL 190800 TRISTICHIASIS EYELASHES, THREE ROWS OF
Number Sign 190900 TRITANOPIA COLORBLINDNESS, TRITANOPIC;; BLUE COLORBLINDNESS;; COLORBLINDNESS, TRITAN; CBT
Asterisk 190920 TROPHOBLAST GLYCOPROTEIN; TPBG M6P1
Asterisk 190930 TROPOMODULIN; TMOD E-TROPOMODULIN; ETMOD
Asterisk 190940 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 1; ERVT1 TRUNCATED ENDOGENOUS RETROVIRAL SEQUENCE 1; TRV1
Asterisk 190950 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 2; ERVT2 TRUNCATED ENDOGENOUS RETROVIRAL SEQUENCE 2; TRV2
Asterisk 190960 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 3; ERVT3 TRUNCATED ENDOGENOUS RETROVIRAL SEQUENCE 3; TRV3
Asterisk 190970 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 4; ERVT4 TRUNCATED ENDOGENOUS RETROVIRAL SEQUENCE 4; TRV4
Asterisk 190980 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 5; ERVT5 TRUNCATED ENDOGENOUS RETROVIRAL SEQUENCE 5; TRV5
Asterisk 190990 TROPOMYOSIN 2; TPM2 TROPOMYOSIN, SKELETAL MUSCLE BETA; TMSB
NULL 191000 TROCHLEA OF THE HUMERUS, APLASIA OF
Asterisk 191010 TROPOMYOSIN 1; TPM1 TROPOMYOSIN, SKELETAL MUSCLE ALPHA; TMSA
Caret 191020 MOVED TO 120920
Asterisk 191030 TROPOMYOSIN 3; TPM3 ALPHA-TROPOMYOSIN 3;; ALPHA-TROPOMYOSIN, SLOW SKELETAL TRK ONCOGENE, INCLUDED;; TPM3/NTRK1 FUSION GENE, INCLUDED
Asterisk 191039 TROPONIN C, FAST; TNNC2 TROPONIN C, FAST SKELETAL
Asterisk 191040 TROPONIN C, SLOW; TNNC1 TROPONIN C, SLOW-TWITCH SKELETAL MUSCLE;; TROPONIN C, CARDIAC; TNC
Asterisk 191041 TROPONIN T1, SKELETAL, SLOW; TNNT1 TROPONIN T
Asterisk 191042 TROPONIN I, SLOW-TWITCH SKELETAL MUSCLE ISOFORM; TNNI1
Asterisk 191043 TROPONIN I, FAST-TWITCH SKELETAL MUSCLE ISOFORM; TNNI2
Asterisk 191044 TROPONIN I, CARDIAC; TNNI3 TROPONIN I, CARDIAC MUSCLE ISOFORM
Asterisk 191045 TROPONIN T2, CARDIAC; TNNT2
Asterisk 191050 TRYPTOPHANYL-tRNA SYNTHETASE; WARS TRYPTOPHANYL-tRNA SYNTHETASE, CYTOPLASMIC;; TRPRS
Asterisk 191060 TRYPTOPHAN HYDROXYLASE 1; TPH1 TPH
Asterisk 191070 TRYPTOPHAN 2,3-DIOXYGENASE; TDO2 TRYPTOPHAN OXYGENASE; TRPO
Asterisk 191080 TRYPTASE, ALPHA/BETA-1; TPSAB1 MAST CELL PROTEASE 7; MCP7 TRYPTASE, ALPHA, INCLUDED;; TRYPTASE, ALPHA-I, INCLUDED;; TRYPTASE, ALPHA-II, INCLUDED;; TRYPTASE I, INCLUDED;; TRYPTASE, BETA-I, INCLUDED
Asterisk 191081 TRYPTASE, BETA-2; TPSB2 TRYPTASE, BETA;; TRYPTASE II;; TRYPTASE, BETA-II;; MAST CELL PROTEASE 6; MCP6 TRYPTASE III, INCLUDED;; TRYPTASE, BETA-III, INCLUDED
Caret 191090 MOVED TO 191100
Caret 191091 MOVED TO 191100
Asterisk 191092 TSC2 GENE; TSC2 TUBERIN;; TSC4 GENE, FORMERLY; TSC4, FORMERLY
Number Sign 191100 TUBEROUS SCLEROSIS 1; TSC1 TUBEROUS SCLEROSIS COMPLEX; TSC;; TUBEROSE SCLEROSIS; TS
Asterisk 191110 TUBULIN, ALPHA-4A; TUBA4A TUBULIN, ALPHA-1; TUBA1;; TUBULIN, ALPHA, TESTIS-SPECIFIC;; H2-ALPHA
Asterisk 191120 TUBULIN, ALPHA-LIKE 1; TUBAL1 H-ALPHA-44
Asterisk 191130 TUBULIN, BETA; TUBB TUBULIN, BETA, CLASS I;; TUBB5;; M40
Asterisk 191135 TUBULIN, GAMMA-1; TUBG1 TUBG;; TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 1; TUBGCP1
NULL 191150 TUFTSIN DEFICIENCY
Asterisk 191155 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 1; TM4SF1 TUMOR-ASSOCIATED ANTIGEN L6; TAAL6;; MEMBRANE COMPONENT, CHROMOSOME 3, SURFACE MARKER 1; M3S1
Asterisk 191160 TUMOR NECROSIS FACTOR; TNF TUMOR NECROSIS FACTOR, ALPHA; TNFA;; CACHECTIN;; TNF, MONOCYTE-DERIVED;; TNF, MACROPHAGE-DERIVED
Asterisk 191161 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 1; TNFAIP1 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN, ENDOTHELIAL
Asterisk 191163 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 3; TNFAIP3 A20;; OTU DOMAIN-CONTAINING PROTEIN 7C; OTUD7C
Asterisk 191164 EPHRIN A1; EFNA1 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 1; EPLG1;; TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 4; TNFAIP4;; LIGAND OF EPH-RELATED KINASE 1; LERK1;; EFL1
Asterisk 191170 TUMOR PROTEIN p53; TP53 P53;; TRANSFORMATION-RELATED PROTEIN 53; TRP53
Asterisk 191175 HEAT-SHOCK PROTEIN, 90-KD, BETA, 1; HSP90B1 TUMOR REJECTION ANTIGEN 1;; TRA1;; STRESS-INDUCIBLE TUMOR REJECTION ANTIGEN GP96;; GLUCOSE-REGULATED PROTEIN, 94-KD; GRP94
Percent 191181 SUPPRESSOR OF TUMORIGENICITY 3; ST3 TUMOR-SUPPRESSOR GENE, HELA CELL TYPE; TSHL;; CERVICAL CARCINOMA, TUMOR-SUPPRESSOR GENE INVOLVED IN; CCTS
Asterisk 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A TUMOR NECROSIS FACTOR RECEPTOR 1; TNFR1;; TUMOR NECROSIS FACTOR-ALPHA RECEPTOR; TNFAR;; TNFR, 55-KD;; TNFR, 60-KD
Asterisk 191191 TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B TUMOR NECROSIS FACTOR RECEPTOR 2; TNFR2;; TUMOR NECROSIS FACTOR, BETA RECEPTOR; TNFBR;; TNFR, 75-KD;; TNFR, 80-KD
Asterisk 191195 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 8; MAP3K8 TUMOR PROGRESSION LOCUS 2; TPL2;; CANCER OSAKA THYROID ONCOGENE; COT;; ONCOGENE COT;; EWING SARCOMA TRANSFORMANT; EST
Percent 191200 TUNE DEAFNESS DYSMELODIA;; AMUSIA, CONGENITAL;; TONE DEAFNESS
NULL 191250 TWINNING DUE TO SUPERFETATION SUPERFETATION TWINNING
NULL 191270 TYROSINASE-LIKE; TYRL TYROSINASE-RELATED SEGMENT
Asterisk 191275 DOPACHROME TAUTOMERASE; DCT TYROSINASE-RELATED PROTEIN 2; TYRP2
Asterisk 191290 TYROSINE HYDROXYLASE; TH
Asterisk 191305 TYROSINE KINASE, B-LYMPHOCYTE SPECIFIC; BLK
Asterisk 191306 KINASE INSERT DOMAIN RECEPTOR; KDR TYROSINE KINASE GROWTH FACTOR RECEPTOR;; FLK1, MOUSE, HOMOLOG OF; FLK1;; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR; VEGFR;; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR 2; VEGFR2
Caret 191309 MOVED TO 190151
Asterisk 191311 DISCOIDIN DOMAIN RECEPTOR FAMILY, MEMBER 2; DDR2 NEUROTROPHIC TYROSINE KINASE RECEPTOR-RELATED 3; NTRKR3;; TYROSINE KINASE RECEPTOR RELATED TO NEUROTROPHIC TRK; TKT
Asterisk 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1 TYROSINE KINASE RECEPTOR; TRK;; TYROSINE KINASE RECEPTOR A; TRKA TRK ONCOGENE, INCLUDED;; NTRK1/TPM3 FUSION GENE, INCLUDED;; NTRK1/TFG FUSION GENE, INCLUDED
Asterisk 191316 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 3; NTRK3 TYROSINE KINASE RECEPTOR C; TRKC;; NEUROTROPHIN 3 RECEPTOR NTRK3/ETV6 FUSION GENE, INCLUDED
Asterisk 191317 U2 SMALL NUCLEAR RNA AUXILIARY FACTOR 1; U2AF1 U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, 35-KD SUBUNIT; U2AF35
Asterisk 191318 U2 SMALL NUCLEAR RNA AUXILIARY FACTOR 2; U2AF2 U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, 65-KD SUBUNIT; U2AF65
Caret 191320 MOVED TO 191339
Asterisk 191321 UBIQUITIN A-52-RESIDUE RIBOSOMAL PROTEIN FUSION PRODUCT; UBA52 HUMAN UBIQUITIN CARBOXYL EXTENSION PROTEIN, 52-RESIDUE; HUBCEP52;; UBCEP, 52-AMINO ACID; CEP52;; RIBOSOMAL PROTEIN L40; RPL40
Asterisk 191325 UBIQUITIN-ACTIVATING ENZYME 7; UBE7 UBIQUITIN-ACTIVATING ENZYME E1-LIKE; UBE1L
Asterisk 191327 UBIQUINOL-CYTOCHROME c REDUCTASE, RIESKE IRON-SULFUR; UQCRFS1
Asterisk 191328 UBIQUINOL-CYTOCHROME c REDUCTASE CORE PROTEIN I; UQCRC1 CYTOCHROME bc1
Asterisk 191329 UBIQUINOL-CYTOCHROME c REDUCTASE CORE PROTEIN II; UQCRC2
Asterisk 191330 UBIQUINOL-CYTOCHROME c REDUCTASE-BINDING PROTEIN; UQCRB UBIQUINONE-BINDING PROTEIN; UQBC;; UQPC
Asterisk 191339 UBIQUITIN B; UBB POLYUBIQUITIN B
Asterisk 191340 UBIQUITIN C; UBC POLYUBIQUITIN
Asterisk 191342 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1; UCHL1 UBIQUITIN C-TERMINAL HYDROLASE, NEURON-SPECIFIC;; PGP9.5
Asterisk 191343 RIBOSOMAL PROTEIN S27a; RPS27A UBIQUITIN A-80-RESIDUE RIBOSOMAL PROTEIN FUSION PRODUCT; UBA80;; HUMAN UBIQUITIN CARBOXYL EXTENSION PROTEIN, 80-RESIDUE; HUBCEP80; CEP80;; UBIQUITIN CARBOXYL EXTENSION PROTEIN 1; UBCEP1
Caret 191344 MOVED TO 191321
Asterisk 191350 DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINE PHOSPHOTRANSFERASE; DPAGT1 UDP-GlcNAc:DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE;; DPAGT2;; GlcNAc-1-P TRANSFERASE
Percent 191390 INFLAMMATORY BOWEL DISEASE 11; IBD11
NULL 191400 ULNA AND FIBULA, HYPOPLASIA OF MESOMELIC DWARFISM OF HYPOPLASTIC ULNA AND FIBULA TYPE;; REINHARDT-PFEIFFER MESOMELIC DYSPLASIA
NULL 191420 ULNA METAPHYSEAL DYSPLASIA SYNDROME METAPHYSEAL CHONDRODYSPLASIA, ROSENBERG TYPE
Percent 191440 ULNAR HYPOPLASIA UPPER LIMB MESOMELIC DYSPLASIA
Number Sign 191480 UNCOMBABLE HAIR SYNDROME 1; UHS1 UNCOMBABLE HAIR SYNDROME; UHS;; PILI TRIANGULI ET CANALICULI
NULL 191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND BRACHYDACTYLY BORK SYNDROME
Percent 191500 UNDRITZ ANOMALY HYPERSEGMENTATION OF NUCLEI OF POLYMORPHONUCLEAR LEUKOCYTES
Asterisk 191510 COLD-SHOCK DOMAIN-CONTAINING E1, RNA-BINDING; CSDE1 GENE UPSTREAM OF NRAS;; UNR;; D1S155E
Percent 191520 UPINGTON DISEASE PERTHES-LIKE HIP DISEASE, ENCHONDROMATA, AND ECCHONDROMATA
Asterisk 191523 UPSTREAM TRANSCRIPTION FACTOR 1; USF1 UPSTREAM STIMULATORY FACTOR 1;; MAJOR LATE TRANSCRIPTION FACTOR; MLTF
Asterisk 191525 URACIL-DNA GLYCOSYLASE; UNG DNA GLYCOSYLASE, URACIL; DGU URACIL-DNA GLYCOSYLASE, MITOCHONDRIAL ISOFORM, INCLUDED; UDG1M, INCLUDED;; UNG1, INCLUDED;; UDG1, INCLUDED;; URACIL-DNA GLYCOSYLASE, NUCLEAR ISOFORM, INCLUDED; UDG1N, INCLUDED;; UNG2, INCLUDED;; UDG1A, INCLUDED
Percent 191530 URATE-BINDING GLOBULIN, DECREASE IN
NULL 191540 URATE OXIDASE, PSEUDOGENE; UOX URICASE
Percent 191550 URETER, BIFID OR DOUBLE
NULL 191600 URETER, CANCER OF
NULL 191650 URETEROCELE
NULL 191700 UROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT NEPHROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT
Asterisk 191710 CYTIDINE MONOPHOSPHATE (UMP-CMP) KINASE 1, CYTOSOLIC; CMPK1 CYTIDINE MONOPHOSPHATE KINASE; CMPK;; CYTIDYLATE KINASE; CMK;; URIDINE MONOPHOSPHATE/CYTIDINE MONOPHOSPHATE KINASE;; UMP/CMP KINASE;; UMP/CMPK;; URIDINE MONOPHOSPHATE KINASE; UMPK; UMK
Asterisk 191720 5-PRIME,3-PRIME-NUCLEOTIDASE, CYTOSOLIC; NT5C PYRIMIDINE 5-PRIME NUCLEOTIDASE 2; P5N2;; URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE 2; UMPH2;; DEOXYRIBONUCLEOTIDASE, CYTOSOLIC, 1; DNT1
Asterisk 191730 URIDINE PHOSPHORYLASE 1; UPP1
Asterisk 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1;; URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 1; UGT1;; UDP-GLYCOSYLTRANSFERASE 1;; URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE, BILIRUBIN;; BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A GENE COMPLEX, INCLUDED; UGT1A, INCLUDED;; UGT1A GENE COMPLEX, INCLUDED
Caret 191741 MOVED TO 191740
Caret 191742 MOVED TO 600067 AND 191740
Caret 191743 MOVED TO 191742
Caret 191750 MOVED TO 191760
Asterisk 191760 URIDYL DIPHOSPHATE GLUCOSE PYROPHOSPHORYLASE 2; UGP2 UGPP2;; UDPG;; UGP1
NULL 191800 URINARY BLADDER, ATONY OF
Caret 191810 MOVED TO 131530
Number Sign 191830 RENAL HYPODYSPLASIA/APLASIA 1; RHDA1 RENAL ADYSPLASIA;; RENAL AGENESIS;; RENAL APLASIA;; HEREDITARY RENAL APLASIA; HRA
Asterisk 191840 PLASMINOGEN ACTIVATOR, URINARY; PLAU UPA;; UROKINASE; URK
Asterisk 191845 UROMODULIN; UMOD TAMM-HORSFALL GLYCOPROTEIN; THP; THGP
NULL 191850 URTICARIA, AQUAGENIC
Number Sign 191900 MUCKLE-WELLS SYNDROME; MWS URTICARIA-DEAFNESS-AMYLOIDOSIS SYNDROME;; UDA SYNDROME;; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 2; CAPS2
NULL 191950 URTICARIA, FAMILIAL LOCALIZED HEAT
NULL 192000 UTERINE ANOMALIES
Asterisk 192020 SECRETOGLOBIN, FAMILY 1A, MEMBER 1; SCGB1A1 UTEROGLOBIN; UGB;; BLASTOKININ;; CLARA CELL SECRETORY PROTEIN; CCSP;; CLARA CELL-SPECIFIC 10-KD PROTEIN; CC10; CC10KD;; CLARA CELL-SPECIFIC 16-KD PROTEIN; CC16
NULL 192050 UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL HEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS
Caret 192070 REMOVED FROM DATABASE
Asterisk 192090 CADHERIN 1; CDH1 CADHERIN, EPITHELIAL;; E-CADHERIN; CDHE; ECAD;; UVOMORULIN; UVO;; CALCIUM-DEPENDENT ADHESION PROTEIN, EPITHELIAL;; LIVER CELL ADHESION MOLECULE; LCAM
NULL 192100 UVULA, BIFID UVULA, CLEFT
Asterisk 192130 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A1; ATP6V0A1 ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN 1A; ATP6N1A;; ATP6N1;; VACUOLAR PROTON PUMP, SUBUNIT 1; VPP1
Asterisk 192132 ATPase, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM 1; ATP6V1B1 ATP6B1;; VACUOLAR PROTON PUMP, SUBUNIT 3; VPP3
Asterisk 192150 VALYL-tRNA SYNTHETASE; VARS VALYL-tRNA SYNTHETASE 1; VARS1;; G7A;; VALRS;; VARS2, FORMERLY
NULL 192200 VARICOSE VEINS
Asterisk 192225 VASCULAR CELL ADHESION MOLECULE 1; VCAM1
Plus 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR A; VEGFA VEGF ATHEROSCLEROSIS, SUSCEPTIBILITY TO, INCLUDED
NULL 192300 VASCULAR HELIX OF UMBILICAL CORD
NULL 192310 VASCULITIS, LYMPHOCYTIC, NODULAR
Number Sign 192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;; RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUD AND MIGRAINE PHENOMENA
Asterisk 192320 VASOACTIVE INTESTINAL PEPTIDE; VIP PHM27, INCLUDED
Asterisk 192321 VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 1; VIPR1 VIP RECEPTOR, TYPE I; VIPR;; PITUITARY ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE RECEPTOR, TYPE II;; PACAP RECEPTOR, TYPE II;; HVR1
Asterisk 192340 ARGININE VASOPRESSIN; AVP ARVP;; VASOPRESSIN-NEUROPHYSIN II;; ANTIDIURETIC HORMONE; ADH NEUROPHYSIN II, INCLUDED; NPII, INCLUDED
Percent 192350 VATER/VACTERL ASSOCIATION
NULL 192400 VEINS, PATTERN OF, ON ANTERIOR THORAX
Number Sign 192430 VELOCARDIOFACIAL SYNDROME CHROMOSOME 22q11.2 DELETION SYNDROME;; VCF SYNDROME; VCFS;; SHPRINTZEN VCF SYNDROME
NULL 192445 VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE
Caret 192450 MOVED TO 603829
Number Sign 192500 LONG QT SYNDROME 1; LQT1 WARD-ROMANO SYNDROME; WRS;; ROMANO-WARD SYNDROME; RWS;; VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;; LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
Number Sign 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 CMH;; VENTRICULAR HYPERTROPHY, HEREDITARY;; ASYMMETRIC SEPTAL HYPERTROPHY; ASH;; HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
Number Sign 192605 VENTRICULAR TACHYCARDIA, FAMILIAL VENTRICULAR TACHYCARDIA, FAMILIAL POLYMORPHIC
NULL 192700 VENULAR INSUFFICIENCY, SYSTEMIC
NULL 192800 VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS
Percent 192900 VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS
Number Sign 192950 VERTICAL TALUS, CONGENITAL; CVT ROCKER-BOTTOM FOOT;; PES VALGUS, CONGENITAL CONVEX
Asterisk 192968 INTEGRIN, ALPHA-1; ITGA1 VERY LATE ACTIVATION PROTEIN 1; VLA1
Caret 192972 MOVED TO 192975
Asterisk 192974 INTEGRIN, ALPHA-2; ITGA2 VERY LATE ACTIVATION PROTEIN 2 RECEPTOR, ALPHA-2 SUBUNIT;; VLA2 RECEPTOR, ALPHA-2 SUBUNIT; VLAA2;; CD49B;; GLYCOPROTEIN Ia;; GP Ia
Asterisk 192975 INTEGRIN, ALPHA-4; ITGA4 VERY LATE ACTIVATION PROTEIN 4 RECEPTOR, ALPHA-4 SUBUNIT;; VLA4 RECEPTOR, ALPHA-4 SUBUNIT;; CD49D
Asterisk 192977 VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR
Percent 193000 VESICOURETERAL REFLUX 1; VUR1 VUR
Asterisk 193001 SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE), MEMBER 2; SLC18A2 VESICULAR AMINE TRANSPORTER 2; VAT2;; VESICULAR MONOAMINE TRANSPORTER 2; VMAT2;; SYNAPTIC VESICLE MONOAMINE TRANSPORTER, BRAIN; SVMT;; SYNAPTIC VESICLE AMINE TRANSPORTER, BRAIN; SVAT
Asterisk 193002 SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE), MEMBER 1; SLC18A1 VESICULAR AMINE TRANSPORTER 1; VAT1;; VESICULAR MONOAMINE TRANSPORTER 1; VMAT1;; ADRENAL CHROMAFFIN GRANULE AMINE TRANSPORTER; CGAT
Percent 193003 NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4 VESTIBULOCEREBELLAR DISORDER WITH PREDOMINANT OCULAR SIGNS
NULL 193005 VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE
Percent 193007 VERTIGO, BENIGN RECURRENT; BRV VERTIGO, BENIGN PAROXYSMAL POSITIONAL; BPPV;; VESTIBULOPATHY, FAMILIAL VERTIGO, BENIGN RECURRENT, 1, INCLUDED; BRV1, INCLUDED
Caret 193010 MOVED TO 112266
Asterisk 193040 VILLIN; VIL VILLIN 1; VIL1
Caret 193050 MOVED TO 125630
Asterisk 193060 VIMENTIN; VIM
Asterisk 193065 VINCULIN; VCL METAVINCULIN, INCLUDED
Asterisk 193067 FRIEND LEUKEMIA VIRUS INTEGRATION 1; FLI1 VIRAL INTEGRATION REGION FLI1, MOUSE, HOMOLOG OF EWING SARCOMA BREAKPOINT REGION 2, INCLUDED; EWSR2, INCLUDED;; FLI1/EWS FUSION GENE, INCLUDED
NULL 193070 VIRUS RD114 RNA COMPLEMENTARITY
Percent 193090 TRANSCOBALAMIN I DEFICIENCY TCN1 DEFICIENCY;; COBALAMIN PSEUDODEFICIENCY DUE TO TRANSCOBALAMIN DEFICIENCY;; COBALAMIN R BINDER PROTEIN DEFICIENCY TRANSCOBALAMIN I DEFICIENCY WITH LACTOFERRIN DEFICIENCY, INCLUDED;; R BINDER DEFICIENCY WITH LACTOFERRIN DEFICIENCY, INCLUDED
Number Sign 193100 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT;; HYPOPHOSPHATEMIA, AUTOSOMAL DOMINANT
Asterisk 193190 VITRONECTIN; VTN SERUM SPREADING FACTOR;; COMPLEMENT S-PROTEIN;; SOMATOMEDIN B
Percent 193200 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6; VAMAS6
Asterisk 193210 INTEGRIN, ALPHA-V; ITGAV VITRONECTIN RECEPTOR, ALPHA POLYPEPTIDE; VNRA;; CD51
Number Sign 193220 VITREORETINOCHOROIDOPATHY; VRCP VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT; ADVIRC;; VITREORETINOCHOROIDOPATHY WITH MICROCORNEA, GLAUCOMA, AND CATARACT;; VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, INCLUDED; MRCS, INCLUDED
Number Sign 193230 VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; SVD SNOWFLAKE VITREORETINAL DEGENERATION
Number Sign 193235 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI PROLIFERATIVE VITREORETINOPATHY; PVR;; VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, AUTOSOMAL DOMINANT; ADNIV
NULL 193240 VOCAL CORD PARALYSIS AND PTOSIS
Asterisk 193245 VOLTAGE-DEPENDENT ANION CHANNEL 2; VDAC2
Percent 193250 VOLVULUS OF MIDGUT INTESTINAL MALROTATION, FAMILIAL
Caret 193290 MOVED TO 151675
Number Sign 193300 VON HIPPEL-LINDAU SYNDROME; VHL VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED
Number Sign 193400 VON WILLEBRAND DISEASE, TYPE 1; VWD1 VON WILLEBRAND DISEASE, TYPE I;; VWD, TYPE 1
NULL 193450 VULVOVAGINITIS, ALLERGIC SEMINAL
Number Sign 193500 WAARDENBURG SYNDROME, TYPE 1; WS1 WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM
Number Sign 193510 WAARDENBURG SYNDROME, TYPE 2A; WS2A WAARDENBURG SYNDROME, TYPE IIA;; WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM;; WS2
Number Sign 193520 WATSON SYNDROME; WTSN PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTS;; CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSIS
Asterisk 193525 WEE1, S. POMBE, HOMOLOG OF; WEE1 WEE1 TYROSINE KINASE;; WEE1, SOMATIC; WEE1A
Number Sign 193530 WEYERS ACROFACIAL DYSOSTOSIS; WAD ACRODENTAL DYSOSTOSIS OF WEYERS;; CURRY-HALL SYNDROME
Number Sign 193670 WHIM SYNDROME; WHIMS WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME
Caret 193675 REMOVED FROM DATABASE
Caret 193680 MOVED TO 128101
Number Sign 193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A FREEMAN-SHELDON SYNDROME; FSS;; WHISTLING FACE-WINDMILL VANE HAND SYNDROME;; CRANIOCARPOTARSAL DYSTROPHY;; CRANIOCARPOTARSAL DYSPLASIA
Number Sign 193900 WHITE SPONGE NEVUS 1; WSN1 WHITE SPONGE NEVUS OF CANNON;; LEUKOKERATOSIS, HEREDITARY MUCOSAL
NULL 194000 WIDOW'S PEAK
Number Sign 194050 WILLIAMS-BEUREN SYNDROME; WBS CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB;; WILLIAMS SYNDROME; WMS; WS
Number Sign 194070 WILMS TUMOR 1; WT1 NEPHROBLASTOMA
Number Sign 194071 WILMS TUMOR 2; WT2
Number Sign 194072 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME; WAGR WAGR SYNDROME;; CHROMOSOME 11p13 DELETION SYNDROME
Number Sign 194080 DENYS-DRASH SYNDROME; DDS DRASH SYNDROME;; WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM;; NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES
Percent 194090 WILMS TUMOR 3; WT3
Caret 194100 MOVED TO 106600
Number Sign 194190 WOLF-HIRSCHHORN SYNDROME; WHS CHROMOSOME 4p16.3 DELETION SYNDROME;; PITT-ROGERS-DANKS SYNDROME; PRDS;; PITT SYNDROME;; WITTWER SYNDROME
Number Sign 194200 WOLFF-PARKINSON-WHITE SYNDROME WPW SYNDROME PREEXCITATION SYNDROME, INCLUDED;; ACCESSORY ATRIOVENTRICULAR PATHWAYS, INCLUDED
Number Sign 194300 WOOLLY HAIR, AUTOSOMAL DOMINANT; ADWH
NULL 194320 WORONETS TRAIT
Percent 194350 WT LIMB-BLOOD SYNDROME
Asterisk 194355 X BOX-BINDING PROTEIN 1; XBP1 X BOX-BINDING PROTEIN 2; XBP2
Asterisk 194360 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; XRCC1 X-RAY REPAIR CROSS-COMPLEMENTING 1
Asterisk 194363 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; XRCC4
Asterisk 194364 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; XRCC5 Ku ANTIGEN, 80-KD SUBUNIT; Ku80;; Ku86
NULL 194370 X-RAY SENSITIVITY; XRS
Number Sign 194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS;; XEROCYTOSIS, HEREDITARY;; DESICCYTOSIS, HEREDITARY;; PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;; PSEUDOHYPERKALEMIA EDINBURGH
NULL 194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD
Asterisk 194450 YEAST FACTOR
Asterisk 194460 ALPHA-2-GLYCOPROTEIN, ZINC; AZGP1 ZINC-ALPHA-2-GLYCOPROTEIN; ZAG; ZA2G
Percent 194470 ZINC, ELEVATED PLASMA ALBUMIN BINDING OF ZINC, ELEVATED;; HYPERZINCEMIA, FAMILIAL DYSALBUMINEMIC HYPERZINCEMIA AND HYPERCALPROTECTINEMIA, INCLUDED
Asterisk 194480 ZINC FINGER PROTEIN 3, MOUSE, HOMOLOG OF; ZFP3
Asterisk 194490 ZINC FINGER PROTEIN 1; ZNF1
Asterisk 194500 ZINC FINGER PROTEIN 2; ZNF2
Asterisk 194510 ZINC FINGER PROTEIN 3; ZNF3
Caret 194520 REMOVED FROM DATABASE
Asterisk 194521 ZINC FINGER PROTEIN 33A; ZNF33A ZINC FINGER AND ZAK-ASSOCIATED PROTEIN WITH KRAB DOMAIN; ZZAPK;; KIAA0065;; ZINC FINGER PROTEIN 11A; ZNF11A;; ZNF11;; KOX2
Asterisk 194522 ZINC FINGER PROTEIN 33B; ZNF33B ZINC FINGER PROTEIN 11B; ZNF11B
Asterisk 194524 ZINC FINGER PROTEIN 18; ZNF18 KOX11
Asterisk 194525 ZINC FINGER PROTEIN 19; ZNF19 KOX12
Asterisk 194526 ZINC FINGER PROTEIN 34; ZNF34 KOX32
Asterisk 194527 ZINC FINGER PROTEIN 23; ZNF23 ZINC FINGER PROTEIN 359; ZNF359
Asterisk 194528 ZINC FINGER PROTEIN 25; ZNF25 KOX19
Asterisk 194529 ZINC FINGER PROTEIN 22; ZNF22 KOX15
Caret 194530 REMOVED FROM DATABASE
Asterisk 194531 ZINC FINGER PROTEIN 7; ZNF7 KOX4
Asterisk 194532 ZINC FINGER PROTEIN 8; ZNF8
Asterisk 194533 ZINC FINGER PROTEIN 35; ZNF35 ZINC FINGER PROTEIN HF.10; HF10
Asterisk 194534 ZINC FINGER PROTEIN 24; ZNF24 KOX17;; ZNF191
Asterisk 194535 ZINC FINGER PROTEIN 29; ZNF29 KOX26
Asterisk 194536 ZINC FINGER PROTEIN 12; ZNF12 KOX3
Asterisk 194537 ZINC FINGER PROTEIN 26; ZNF26 KOX20
Asterisk 194538 ZINC FINGER PROTEIN 10; ZNF10 KOX1
Asterisk 194539 ZINC FINGER PROTEIN 32; ZNF32
Asterisk 194540 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 1; HIVEP1 ZINC FINGER PROTEIN 40; ZNF40;; MAJOR HISTOCOMPATIBILITY COMPLEX-BINDING PROTEIN 1; MBP1;; POSITIVE REGULATORY DOMAIN II-BINDING FACTOR 1; PRDIIBF1;; ZAS FAMILY, MEMBER 1; ZAS1
Asterisk 194541 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 25; ZBTB25 ZINC FINGER PROTEIN KUP; KUP;; ZINC FINGER PROTEIN 46, FORMERLY; ZNF46, FORMERLY
Asterisk 194542 ZINC FINGER PROTEIN 44; ZNF44 KOX7
Asterisk 194543 ZINC FINGER PROTEIN 69; ZNF69
Asterisk 194544 ZINC FINGER PROTEIN 70; ZNF70
Asterisk 194545 ZINC FINGER PROTEIN 71; ZNF71 ENDOTHELIAL ZINC FINGER PROTEIN INDUCED BY TNF-ALPHA; EZFIT
Asterisk 194546 ZINC FINGER PROTEIN 72; ZNF72
Asterisk 194547 ZINC FINGER PROTEIN 73; ZNF73
Asterisk 194548 ZINC FINGER PROTEIN 74; ZNF74
Asterisk 194549 ZINC FINGER PROTEIN 76; ZNF76 D6S229E
Asterisk 194550 MYELOID ZINC FINGER GENE 1; MZF1 ZINC FINGER PROTEIN 42; ZNF42;; ZINC FINGER, MYELOID, RETINOIC ACID-RESPONSIVE;; MZF1B
Asterisk 194551 ZINC FINGER PROTEIN 77; ZNF77
Asterisk 194552 ZINC FINGER PROTEIN 79; ZNF79
Asterisk 194553 ZINC FINGER PROTEIN 80; ZNF80
Asterisk 194554 ZINC FINGER PROTEIN 45; ZNF45 ZINC FINGER PROTEIN 13; ZNF13;; KOX5
Asterisk 194555 ZINC FINGER PROTEIN 224; ZNF224 KOX22 ZINC FINGER PROTEIN 255, INCLUDED; ZNF255, INCLUDED;; BONE MARROW ZINC FINGER PROTEIN 2, INCLUDED; BMZF2, INCLUDED
Asterisk 194556 ZINC FINGER PROTEIN 14; ZNF14 KOX6
Asterisk 194557 ZINC FINGER PROTEIN 20; ZNF20 KOX13
Asterisk 194558 ZINC FINGER PROTEIN 83; ZNF83
Asterisk 194624 ZINC FINGER PROTEIN 117; ZNF117
Asterisk 194628 ZINC FINGER PROTEIN 121; ZNF121
Asterisk 194630 ZINC FINGER PROTEIN 123; ZNF123
Asterisk 194631 ZINC FINGER PROTEIN 124; ZNF124
Asterisk 194632 ZINC FINGER PROTEIN 125; ZNF125
Asterisk 194633 ZINC FINGER PROTEIN 126; ZNF126
Asterisk 194648 ZINC FINGER PROTEIN 141; ZNF141
Asterisk 195000 ZONA PELLUCIDA GLYCOPROTEIN 1; ZP1
Caret 195002 MOVED TO 182889
Number Sign 200100 ABETALIPOPROTEINEMIA; ABL ACANTHOCYTOSIS;; BASSEN-KORNZWEIG SYNDROME;; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY;; MTP DEFICIENCY
Number Sign 200110 ABLEPHARON-MACROSTOMIA SYNDROME; AMS
NULL 200130 ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION PSEUDOPROGERIA SYNDROME
Number Sign 200150 CHOREOACANTHOCYTOSIS; CHAC LEVINE-CRITCHLEY SYNDROME;; ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER;; NEUROACANTHOCYTOSIS;; CHOREA-ACANTHOCYTOSIS
NULL 200170 ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT
NULL 200300 ACETOPHENETIDIN SENSITIVITY
Asterisk 200350 ACETYL-CoA CARBOXYLASE-ALPHA; ACACA ACCA;; ACETYL-CoA CARBOXYLASE 1; ACC1
Percent 200400 ACHALASIA, FAMILIAL ESOPHAGEAL
Caret 200440 MOVED TO 231550
NULL 200450 ACHALASIA-MICROCEPHALY SYNDROME
Number Sign 200500 ACHEIROPODY; ACHP ACHEIROPODIA;; ACHEIROPODY, BRAZILIAN TYPE
Number Sign 200600 ACHONDROGENESIS, TYPE IA; ACG1A ACHONDROGENESIS, HOUSTON-HARRIS TYPE
Number Sign 200610 ACHONDROGENESIS, TYPE II; ACG2 ACHONDROGENESIS, LANGER-SALDINO TYPE;; CHONDROGENESIS IMPERFECTA;; ACHONDROGENESIS, TYPE IB, FORMERLY HYPOCHONDROGENESIS, INCLUDED
Number Sign 200700 CHONDRODYSPLASIA, GREBE TYPE ACHONDROGENESIS, BRAZILIAN;; GREBE CHONDRODYSPLASIA;; GREBE DYSPLASIA;; ACROMESOMELIC DYSPLASIA, GREBE TYPE; AMDG;; ACHONDROGENESIS, TYPE II, FORMERLY
Caret 200710 MOVED TO 200610
Caret 200720 MOVED TO 200610
NULL 200900 SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY SLSD WITH SCID;; ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY
Caret 200930 REMOVED FROM DATABASE
NULL 200950 ACID PHOSPHATASE DEFICIENCY
NULL 200970 ACKERMAN SYNDROME MOLAR ROOTS, PYRAMIDAL, WITH JUVENILE GLAUCOMA AND UNUSUAL UPPER LIP;; GLAUCOMA, JUVENILE, WITH UNUSUAL UPPER LIP AND DENTAL ROOTS
NULL 200980 ACRORENAL-MANDIBULAR SYNDROME ACRORENAL-UTERINE-MANDIBULAR SYNDROME; ARUMS;; SPLIT-HAND AND SPLIT-FOOT WITH MANDIBULAR HYPOPLASIA
Number Sign 200990 ACROCALLOSAL SYNDROME; ACLS HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM;; SCHINZEL ACROCALLOSAL SYNDROME JOUBERT SYNDROME 12, INCLUDED; JBTS12, INCLUDED;; JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED
NULL 200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA ELEJALDE SYNDROME
Number Sign 201000 CARPENTER SYNDROME 1; CRPT1 CARPENTER SYNDROME;; ACROCEPHALOPOLYSYNDACTYLY TYPE II;; ACPS II
NULL 201020 ACROCEPHALOPOLYSYNDACTYLY TYPE IV ACPS IV;; GOODMAN SYNDROME
NULL 201050 ACROCRANIOFACIAL DYSOSTOSIS
Number Sign 201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ
Percent 201170 ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ RODRIGUEZ LETHAL ACROFACIAL DYSOSTOSIS SYNDROME
NULL 201180 ACROFRONTOFACIONASAL DYSOSTOSIS 1 AFFN DYSOSTOSIS 1; AFFND1;; POLYSYNDACTYLY, POSTAXIAL, FRONTONASAL DYSOSTOSIS, AND CLEFT LIP/PALATE;; CLEFT LIP/PALATE WITH FRONTONASAL DYSOSTOSIS AND POSTAXIAL POLYSYNDACTYLY
Caret 201181 MOVED TO 239710
NULL 201200 ACROGERIA, GOTTRON TYPE METAGERIA;; ACROMETAGERIA
Number Sign 201250 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH ACROMESOMELIC DWARFISM
Number Sign 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A HSAN IIA;; NEUROPATHY, HEREDITARY SENSORY, TYPE IIA; HSN2A;; HSN IIA;; ACROOSTEOLYSIS, NEUROGENIC;; ACROOSTEOLYSIS, GIACCAI TYPE;; NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE;; MORVAN DISEASE;; NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN;; NEUROPATHY, CONGENITAL SENSORY
NULL 201310 ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE
Number Sign 201400 ACTH DEFICIENCY, ISOLATED; IAD ADRENOCORTICOTROPIC HORMONE DEFICIENCY
Number Sign 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD ACADM DEFICIENCY;; MCAD DEFICIENCY;; MCADH DEFICIENCY;; CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY
Caret 201460 MOVED TO 201475
Number Sign 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD ACADS DEFICIENCY;; LIPID-STORAGE MYOPATHY SECONDARY TO SHORT-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY;; SCADH DEFICIENCY;; SCAD DEFICIENCY
Number Sign 201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD VLCAD DEFICIENCY
Percent 201550 ADDUCTED THUMBS SYNDROME
Number Sign 201710 LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH ADRENAL HYPERPLASIA I;; LIPOID HYPERPLASIA, CONGENITAL, OF ADRENAL CORTEX WITH MALE PSEUDOHERMAPHRODITISM
Number Sign 201750 ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1
Number Sign 201810 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY ADRENAL HYPERPLASIA II;; 3-BETA-HSD DEFICIENCY; HSDB
Number Sign 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY ADRENAL HYPERPLASIA III;; 21-HYDROXYLASE DEFICIENCY;; CYP21 DEFICIENCY;; CONGENITAL ADRENAL HYPERPLASIA 1; CAH1 HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, INCLUDED
Number Sign 202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY ADRENAL HYPERPLASIA IV;; STEROID 11-BETA-HYDROXYLASE DEFICIENCY;; 11-BETA-HYDROXYLASE DEFICIENCY;; ADRENAL HYPERPLASIA, HYPERTENSIVE FORM;; P450C11B1 DEFICIENCY
Number Sign 202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY ADRENAL HYPERPLASIA V;; 17-ALPHA-HYDROXYLASE DEFICIENCY 17,20-LYASE DEFICIENCY, ISOLATED, INCLUDED;; 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE, INCLUDED;; 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL, INCLUDED
NULL 202150 ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE
NULL 202155 ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE
Number Sign 202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1 FAMILIAL GLUCOCORTICOID DEFICIENCY 1; FGD1;; ADRENAL UNRESPONSIVENESS TO ACTH;; ACTH RESISTANCE
Number Sign 202300 ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC ADRENOCORTICAL CARCINOMA, PEDIATRIC, INCLUDED
NULL 202355 ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT FAMILIAL GLUCOCORTICOID DEFICIENCY DUE TO DEFECT DISTAL TO ACTH RECEPTOR
Number Sign 202370 PEROXISOME BIOGENESIS DISORDER 2B; PBD2B
Number Sign 202400 AFIBRINOGENEMIA, CONGENITAL HYPOFIBRINOGENEMIA, CONGENITAL, INCLUDED
Caret 202500 MOVED TO 600899 AND 601457
NULL 202550 AGANGLIONOSIS, TOTAL INTESTINAL
NULL 202600 AGENESIS OF CEREBRAL WHITE MATTER
Number Sign 202650 AGNATHIA-OTOCEPHALY COMPLEX; AGOTC DYSGNATHIA COMPLEX AGNATHIA-HOLOPROSENCEPHALY;; HOLOPROSENCEPHALY-AGNATHIA;; OTOCEPHALY
NULL 202660 PAGOD SYNDROME AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS
Number Sign 202700 NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1
NULL 202900 ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS STIMMLER SYNDROME
NULL 203000 FRONTONASAL DYSPLASIA WITH ALAR CLEFTS ALAR-NASAL CARTILAGES, COLOBOMA OF, WITH TELECANTHUS
Number Sign 203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A OCULOCUTANEOUS ALBINISM, TYPE I; OCA1;; ALBINISM I;; OCULOCUTANEOUS ALBINISM, TYROSINASE-NEGATIVE; ATN
Number Sign 203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 OCULOCUTANEOUS ALBINISM, TYPE II;; OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE;; ALBINISM II ALBINISM, BROWN OCULOCUTANEOUS, INCLUDED; BOCA, INCLUDED;; BROWN OCULOCUTANEOUS ALBINISM, INCLUDED
Caret 203280 MOVED TO 606952
Caret 203285 MOVED TO 608233
Number Sign 203290 ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3 OCULOCUTANEOUS ALBINISM, TYPE III;; ALBINISM III;; RUFOUS OCULOCUTANEOUS ALBINISM; ROCA;; XANTHISM
Number Sign 203300 HERMANSKY-PUDLAK SYNDROME 1; HPS1 ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS;; DELTA STORAGE POOL DISEASE
Caret 203310 MOVED TO 203200
Percent 203330 PSEUDOHYPOPARATHYROIDISM, TYPE II; PHP2 PHP II
NULL 203340 ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME MICROCEPHALY-ALBINISM-DIGITAL ANOMALIES SYNDROME
Number Sign 203400 CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY CMO I DEFICIENCY;; ALDOSTERONE DEFICIENCY I;; HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1; FHHA1A;; ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE;; 18-HYDROXYLASE DEFICIENCY;; STEROID 18-HYDROXYLASE DEFICIENCY
Number Sign 203450 ALEXANDER DISEASE; ALXDRD
Number Sign 203500 ALKAPTONURIA; AKU HOMOGENTISIC ACID OXIDASE DEFICIENCY
NULL 203550 ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME ACD MENTAL RETARDATION SYNDROME
NULL 203600 ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN MOYNAHAN ALOPECIA SYNDROME
Number Sign 203650 ALOPECIA-MENTAL RETARDATION SYNDROME 1; APMR1 APMR;; AMR SYNDROME
Number Sign 203655 ALOPECIA UNIVERSALIS CONGENITA; ALUNC ATRICHIA, GENERALIZED
Number Sign 203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS;; ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY;; ALPERS SYNDROME;; ALPERS-HUTTENLOCHER SYNDROME;; NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE; PNDC
Percent 203740 ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY ALPHA-KGD DEFICIENCY;; 2-KETOGLUTARATE DEHYDROGENASE DEFICIENCY;; OXOGLUTARIC ACIDURIA
Number Sign 203750 ALPHA-METHYLACETOACETIC ACIDURIA 2-METHYL-3-HYDROXYBUTYRIC ACIDEMIA;; BETA-KETOTHIOLASE DEFICIENCY;; MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY;; MAT DEFICIENCY;; T2 DEFICIENCY;; 3-OXOTHIOLASE DEFICIENCY;; 3-KETOTHIOLASE DEFICIENCY;; 3-KTD DEFICIENCY
NULL 203760 ALPHA-2-DEFICIENT COLLAGEN DISEASE MEIGEL DISEASE
Number Sign 203780 ALPORT SYNDROME, AUTOSOMAL RECESSIVE
Number Sign 203800 ALSTROM SYNDROME; ALMS ALSS
Number Sign 204000 LEBER CONGENITAL AMAUROSIS 1; LCA1 AMAUROSIS CONGENITA OF LEBER I;; LCA;; RETINAL BLINDNESS, CONGENITAL; CRB
Number Sign 204100 LEBER CONGENITAL AMAUROSIS 2; LCA2 AMAUROSIS CONGENITA OF LEBER II
NULL 204110 AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS
Number Sign 204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 NEURONAL CEROID LIPOFUSCINOSIS, JUVENILE; JNCL;; BATTEN DISEASE;; VOGT-SPIELMEYER DISEASE;; SPIELMEYER-SJOGREN DISEASE
Number Sign 204300 CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A
Caret 204400 REMOVED FROM DATABASE
Number Sign 204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 CEROID LIPOFUSCINOSIS, NEURONAL, 2, VARIABLE AGE AT ONSET;; JANSKY-BIELSCHOWSKY DISEASE NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, INCLUDED; LINCL, INCLUDED
Caret 204600 MOVED TO 204500
Number Sign 204650 AMELOGENESIS IMPERFECTA, TYPE IC; AI1C AMELOGENESIS IMPERFECTA, LOCAL HYPOPLASTIC TYPE, AUTOSOMAL RECESSIVE;; AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH OR WITHOUT OPENBITE MALOCCLUSION, AUTOSOMAL RECESSIVE
Number Sign 204690 AMELOGENESIS IMPERFECTA, TYPE IG; AI1G ENAMEL-RENAL SYNDROME; ERS;; ENAMEL-RENAL-GINGIVAL SYNDROME;; AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH NEPHROCALCINOSIS;; AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME; AIGFS
Number Sign 204700 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1 AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 1
NULL 204730 AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS
Number Sign 204750 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD
Percent 204800 AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF
NULL 204850 AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION
Number Sign 204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; GDLD CDGDL;; AMYLOIDOSIS, CORNEAL;; AMYLOID CORNEAL DYSTROPHY, JAPANESE TYPE;; CORNEAL DYSTROPHY, LATTICE TYPE III;; LATTICE CORNEAL DYSTROPHY, TYPE III
NULL 204900 AMYLOIDOSIS, CUTANEOUS BULLOUS
NULL 205000 AMYOTONIA CONGENITA OPPENHEIM DISEASE
Number Sign 205100 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2 ALS, JUVENILE; ALSJ
Percent 205200 AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA ALS-DEMENTIA COMPLEX
NULL 205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES
Number Sign 205400 TANGIER DISEASE; TGD HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1; HDLDT1;; HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPE;; ANALPHALIPOPROTEINEMIA
Caret 205600 MOVED TO 105650
NULL 205700 ANEMIA, AUTOIMMUNE HEMOLYTIC
Caret 205900 MOVED TO 105650
Number Sign 205950 ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY; SIDBA2
NULL 206000 ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE ANEMIA, CONGENITAL SIDEROBLASTIC, B6-RESPONSIVE
Number Sign 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1
Number Sign 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA ANEMIA, HYPOCHROMIC MICROCYTIC, WITH DEFECT IN IRON METABOLISM;; IRON-HANDLING DISORDER, HEREDITARY;; PSEUDO-IRON-DEFICIENCY ANEMIA
NULL 206300 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF RED CELL MEMBRANE
NULL 206400 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRIN METABOLISM
Number Sign 206500 ANENCEPHALY; ANPH
NULL 206550 ANGIOLIPOMATOSIS, FAMILIAL ANGIOLIPOMA MICROTHROMBOTICUM
Percent 206570 ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT DIVRY-VAN BOGAERT SYNDROME
NULL 206600 ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS
Number Sign 206700 GILLESPIE SYNDROME; GLSP ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION
NULL 206750 ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION
Percent 206780 ANODONTIA OF PERMANENT DENTITION TEETH, PERMANENT, ABSENCE OF
Number Sign 206800 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4; NDNC4 ANONYCHIA/HYPONYCHIA CONGENITA;; ANONYCHIA TOTALIS
Number Sign 206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3 MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME;; ANOPHTHALMIA, CLINICAL, WITH ASSOCIATED ANOMALIES;; ANOPHTHALMIA-ESOPHAGEAL-GENITAL SYNDROME;; AEG SYNDROME OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, INCLUDED
Number Sign 206920 MICROPHTHALMIA WITH LIMB ANOMALIES; MLA WAARDENBURG ANOPHTHALMIA SYNDROME;; ANOPHTHALMIA-SYNDACTYLY;; OPHTHALMOACROMELIC SYNDROME; OAS
NULL 207000 ANOSMIA FOR ISOBUTYRIC ACID
NULL 207300 ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO
Number Sign 207410 ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME;; MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES;; OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES
NULL 207500 ANUS, IMPERFORATE
NULL 207600 TAKAYASU ARTERITIS AORTIC ARCH SYNDROME;; YOUNG FEMALE ARTERITIS;; PULSELESS DISEASE
NULL 207620 APHALANGY WITH HEMIVERTEBRAE
Caret 207700 MOVED TO 107600
NULL 207720 APNEA, CENTRAL SLEEP SLEEP APNEA, LETHAL CENTRAL
NULL 207731 APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA ACC WITH INTESTINAL LYMPHANGIECTASIA
NULL 207740 APLASIA OF EXTENSOR MUSCLES OF FINGERS, UNILATERAL, WITH GENERALIZED POLYNEUROPATHY
Number Sign 207750 APOLIPOPROTEIN C-II DEFICIENCY HYPERLIPOPROTEINEMIA, TYPE IB;; C-II ANAPOLIPOPROTEINEMIA;; APOC2 DEFICIENCY
Caret 207765 MOVED TO 218030
NULL 207770 APROSENCEPHALY SYNDROME XK SYNDROME;; GARCIA-LURIE SYNDROME
NULL 207780 AREDYLD ACRORENAL FIELD DEFECT, ECTODERMAL DYSPLASIA, AND LIPOATROPHIC DIABETES
NULL 207790 ARACHNOID CYSTS, INTRACRANIAL
Number Sign 207800 ARGININEMIA ARGINASE DEFICIENCY;; HYPERARGININEMIA;; ARG1 DEFICIENCY
Number Sign 207900 ARGININOSUCCINIC ACIDURIA ARGININOSUCCINASE DEFICIENCY;; ARGININOSUCCINATE LYASE DEFICIENCY;; ASL DEFICIENCY;; ARGININOSUCCINIC ACID LYASE DEFICIENCY
Percent 207950 CHIARI MALFORMATION TYPE II CM2;; ARNOLD-CHIARI MALFORMATION
Number Sign 208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 GACI;; IDIOPATHIC INFANTILE ARTERIAL CALCIFICATION; IIAC;; ARTERIAL CALCIFICATION, IDIOPATHIC INFANTILE;; ARTERIOPATHY, OCCLUSIVE INFANTILE CORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED
Number Sign 208050 ARTERIAL TORTUOSITY SYNDROME; ATS ARTERIAL TORTUOSITY
Percent 208060 ARTERIOSCLEROSIS, SEVERE JUVENILE
NULL 208080 ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION, AND FACIAL ANOMALIES
NULL 208081 ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES
Number Sign 208085 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1 ARC SYNDROME; ARCS
Percent 208100 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN AMC, NEUROGENIC TYPE
Caret 208110 MOVED TO 208155
Number Sign 208150 FETAL AKINESIA DEFORMATION SEQUENCE; FADS PENA-SHOKEIR SYNDROME, TYPE I;; FETAL AKINESIA SEQUENCE;; ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA
NULL 208155 ILLUM SYNDROME ARTHROGRYPOSIS, WHISTLING FACE, AND DEVELOPMENTAL RETARDATION
NULL 208158 ARTHROGRYPOSIS WITH HYPERKERATOSIS
Caret 208200 MOVED TO 259450
Number Sign 208230 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD;; SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY; SEDT-PA;; PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA; PPD
Number Sign 208250 CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP ARTHROPATHY-CAMPTODACTYLY SYNDROME;; HYPERTROPHIC SYNOVITIS, CONGENITAL FAMILIAL;; JACOBS SYNDROME;; FIBROSING SEROSITIS, FAMILIAL;; PERICARDITIS-ARTHROPATHY-CAMPTODACTYLY SYNDROME;; PAC SYNDROME;; CAMPTODACTYLY-ARTHROPATHY-PERICARDITIS SYNDROME;; CAP SYNDROME
NULL 208300 ASCITES, CHYLOUS
Number Sign 208400 ASPARTYLGLUCOSAMINURIA; AGU GLYCOSYLASPARAGINASE DEFICIENCY;; ASPARTYLGLUCOSAMINIDASE DEFICIENCY;; AGA DEFICIENCY;; GLYCOASPARAGINASE;; ASPARTYLGLYCOSAMINURIA
Percent 208500 SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY; SRTD1 ASPHYXIATING THORACIC DYSTROPHY 1; ATD1;; JEUNE SYNDROME;; THORACIC-PELVIC-PHALANGEAL DYSTROPHY
Number Sign 208530 RIGHT ATRIAL ISOMERISM; RAI ASPLENIA WITH CARDIOVASCULAR ANOMALIES;; IVEMARK SYNDROME POLYSPLENIA SYNDROME, INCLUDED;; POLYASPLENIA, INCLUDED;; HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE, INCLUDED;; VAH, AUTOSOMAL RECESSIVE, INCLUDED
Number Sign 208540 RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 RHPD
Number Sign 208550 ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE ASA TRIAD ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO, INCLUDED;; ASTHMA AND NASAL POLYPS, INCLUDED
NULL 208600 ASTHMA, SHORT STATURE, AND ELEVATED IgA
NULL 208700 ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA
Percent 208750 ATAXIA, DEAFNESS, AND CARDIOMYOPATHY
Caret 208800 MOVED TO 312170
NULL 208850 ATAXIA-DEAFNESS-RETARDATION SYNDROME ADR SYNDROME
NULL 208870 ATAXIA-MICROCEPHALY-CATARACT SYNDROME AMC SYNDROME
Number Sign 208900 ATAXIA-TELANGIECTASIA; AT AT1;; LOUIS-BAR SYNDROME AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED;; AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED;; AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED;; AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED;; ATAXIA-TELANGIECTASIA VARIANT, INCLUDED
Caret 208905 MOVED TO 208900
NULL 208910 ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH
Number Sign 208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH ATAXIA-OCULOMOTOR APRAXIA SYNDROME; AOA;; ATAXIA-OCULOMOTOR APRAXIA 1; AOA1;; ATAXIA-TELANGIECTASIA-LIKE SYNDROME;; CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA; EOCA-HA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED
Caret 209000 MOVED TO 613179
NULL 209010 ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS, PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE
NULL 209050 ATHROMBIA, ESSENTIAL
Percent 209100 ATONIC-ASTATIC SYNDROME OF FOERSTER
Number Sign 209300 ATRANSFERRINEMIA HYPOTRANSFERRINEMIA, FAMILIAL TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED; TFQTL1, INCLUDED
Caret 209400 MOVED TO 600309
Number Sign 209500 ATRICHIA WITH PAPULAR LESIONS; APL PAPULAR ATRICHIA
NULL 209600 ATRIOVENTRICULAR DISSOCIATION A-V DISSOCIATION
Percent 209700 ATROPHODERMA VERMICULATA; AVA FOLLICULITIS ULERYTHEMATOSA RETICULATA;; ATROPHODERMIA VERMICULATA;; HONEYCOMB ATROPHY;; ATROPHODERMIA RETICULATA SYMMETRICA FACIEI
Caret 209750 MOVED TO 209950
NULL 209770 AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION
NULL 209800 AUSTRALIA ANTIGEN
Percent 209850 AUTISM AUTISTIC DISORDER AUTISM, SUSCEPTIBILITY TO, 1, INCLUDED; AUTS1, INCLUDED;; AUTISM SPECTRUM DISORDER, INCLUDED; ASD, INCLUDED
Number Sign 209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS AUTONOMIC CONTROL, CONGENITAL FAILURE OF;; ONDINE CURSE, CONGENITAL ONDINE-HIRSCHSPRUNG DISEASE, INCLUDED; OHD, INCLUDED;; CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED;; HADDAD SYNDROME, INCLUDED
Number Sign 209885 BARBER-SAY SYNDROME; BBRSAY BSS;; HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA
Number Sign 209900 BARDET-BIEDL SYNDROME 1; BBS1
Asterisk 209901 BBS1 GENE; BBS1
Number Sign 209920 BARE LYMPHOCYTE SYNDROME, TYPE II BLS, TYPE II;; BARE LYMPHOCYTE SYNDROME; BLS;; SEVERE COMBINED IMMUNODEFICIENCY, HLA CLASS II-NEGATIVE;; SCID, HLA CLASS II-NEGATIVE BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A, INCLUDED;; BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B, INCLUDED;; BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C, INCLUDED;; BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D, INCLUDED;; BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E, INCLUDED
Caret 209930 MOVED TO 241200
Number Sign 209950 IMMUNODEFICIENCY 27A; IMD27A IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;; IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE
NULL 209970 BEEMER LETHAL MALFORMATION SYNDROME HYDROCEPHALUS, CARDIAC MALFORMATION, DENSE BONES, ETC.
Number Sign 210000 BEHR SYNDROME; BEHRS OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
NULL 210050 BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION CEREBRAL ANEURYSM-CIRRHOSIS SYNDROME
Number Sign 210100 BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF;; BAIB URINARY EXCRETION;; HYPER-BETA-AMINOISOBUTYRIC ACIDURIA
Number Sign 210200 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; MCC1D MCCD TYPE 1;; MCC1 DEFICIENCY;; 3-METHYLCROTONYLGLYCINURIA I;; METHYLCROTONYLGLYCINURIA TYPE I
Number Sign 210210 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY; MCC2D MCC2 DEFICIENCY;; 3-METHYLCROTONYLGLYCINURIA II;; METHYLCROTONYLGLYCINURIA, TYPE II
Number Sign 210250 SITOSTEROLEMIA STSL;; PHYTOSTEROLEMIA MACROTHROMBOCYTOPENIA/STOMATOCYTOSIS, MEDITERRANEAN, INCLUDED
Caret 210300 MOVED TO 201300
NULL 210350 BIEMOND SYNDROME II
Number Sign 210370 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; BCD BIETTI CRYSTALLINE DYSTROPHY;; BIETTI TAPETORETINAL DEGENERATION WITH MARGINAL CORNEAL DYSTROPHY
NULL 210400 BIFID NOSE, AUTOSOMAL RECESSIVE MEDIAN FISSURE OF NOSE;; NOSE, MEDIAN CLEFT OF
Caret 210450 MOVED TO 607765
Percent 210500 BILIARY ATRESIA, EXTRAHEPATIC; EHBA
NULL 210550 BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY CHOLESTATIC JAUNDICE AND RENAL TUBULAR INSUFFICIENCY
Number Sign 210600 SECKEL SYNDROME 1; SCKL1 SCKL;; SECKEL-TYPE DWARFISM;; NANOCEPHALIC DWARFISM;; MICROCEPHALIC PRIMORDIAL DWARFISM I;; BIRD-HEADED DWARFISM
NULL 210700 MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE BIRD-HEADED DWARFISM, MONTREAL TYPE
Number Sign 210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1 MOPD I; MOPD;; OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I;; BRACHYMELIC PRIMORDIAL DWARFISM;; TAYBI-LINDER SYNDROME; TALS;; CEPHALOSKELETAL DYSPLASIA;; LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA
Number Sign 210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2 MOPD II;; OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
Percent 210730 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III MOPD III; MOPD3;; OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III;; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, CAROLINE CRACHAMI TYPE;; MOPD, CAROLINE CRACHAMI TYPE;; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE;; MOPD, SICILIAN FAIRY TYPE
NULL 210740 BANGSTAD SYNDROME BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCY
Percent 210745 BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE
Number Sign 210750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6 SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR;; SKIN/HAIR/EYE PIGMENTATION 6, BLUE/GREEN EYES
Number Sign 210900 BLOOM SYNDROME; BLM BS; BLS
NULL 211000 BLUE DIAPER SYNDROME HYPERCALCEMIA, FAMILIAL, WITH NEPHROCALCINOSIS AND INDICANURIA
Asterisk 211100 FUCOSYLTRANSFERASE 1; FUT1 H ANTIGEN;; Hh
NULL 211120 BONE DYSPLASIA, LETHAL, HOLMGREN TYPE
Caret 211170 MOVED TO 249420
Number Sign 211180 BOWEN-CONRADI SYNDROME; BWCNS BOWEN HUTTERITE SYNDROME, FORMERLY
NULL 211200 BOWEN SYNDROME OF MULTIPLE MALFORMATIONS
Percent 211350 KYPHOMELIC DYSPLASIA BOWING, CONGENITAL, WITH SHORT BONES
NULL 211355 BOWING OF LONG BONES, ASYMMETRIC AND SYMMETRIC
NULL 211369 BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY
NULL 211370 BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM ANODONTIA-HYPOTRICHOSIS SYNDROME;; OCULOOSTEOCUTANEOUS SYNDROME
NULL 211380 BRACHIOSKELETOGENITAL SYNDROME BSG SYNDROME
Percent 211390 SABINAS BRITTLE HAIR SYNDROME BRITTLE HAIR AND MENTAL DEFICIT
Number Sign 211400 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1 CYSTIC FIBROSIS-LIKE SYNDROME
Caret 211410 MOVED TO 114450
Caret 211420 REMOVED FROM DATABASE
NULL 211450 BRONCHOMALACIA WILLIAMS-CAMPBELL SYNDROME
NULL 211480 BUERGER DISEASE THROMBOANGIITIS OBLITERANS
Number Sign 211500 FAZIO-LONDE DISEASE BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD
Number Sign 211530 BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1 BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS;; PONTOBULBAR PALSY WITH DEAFNESS
Caret 211550 MOVED TO 113900
Number Sign 211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 BYLER DISEASE
Number Sign 211750 C SYNDROME OPITZ TRIGONOCEPHALY SYNDROME;; TRIGONOCEPHALY SYNDROME
NULL 211770 CAHMR SYNDROME CATARACT, HYPERTRICHOSIS, MENTAL RETARDATION SYNDROME
Number Sign 211800 CALCIFICATION OF JOINTS AND ARTERIES; CALJA ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73; ACDC
Percent 211890 CAMPOMELIA, CUMMING TYPE CERVICAL LYMPHOCELE WITH BOWED LONG BONES;; CUMMING SYNDROME
Number Sign 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA;; TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC; PHPTC;; LIPOCALCINOGRANULOMATOSIS;; TEUTSCHLAENDER DISEASE, FAMILIAL;; MORBUS TEUTSCHLAENDER;; HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS;; HYPEROSTOSIS WITH HYPERPHOSPHATEMIA;; CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA
NULL 211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1 FACIOTHORACOSKELETAL SYNDROME; FTSS
NULL 211920 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II
NULL 211930 CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA
Percent 211960 CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES TEL HASHOMER CAMPTODACTYLY SYNDROME
NULL 211965 CAMPTODACTYLY-ICHTHYOSIS SYNDROME
Caret 211970 MOVED TO 114290
Number Sign 211980 LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED;; ADENOCARCINOMA OF LUNG, INCLUDED;; NONSMALL CELL LUNG CANCER, INCLUDED;; LUNG CANCER, PROTECTION AGAINST, INCLUDED
NULL 211990 CAMPTOMELIC SYNDROME, LONG-LIMB TYPE CAMPOMELIC SYNDROME, LONG-LIMB TYPE
Number Sign 212050 CANDIDIASIS, FAMILIAL, 2; CANDF2 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE;; CARD9 IMMUNODEFICIENCY
NULL 212060 CARBIMAZOLE SENSITIVITY
Number Sign 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A CDG Ia; CDGIa;; JAEKEN SYNDROME;; PHOSPHOMANNOMUTASE 2 DEFICIENCY;; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY
Number Sign 212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A CDG IIa; CDGIIa;; ALKURAYA SYNDROME;; MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH;; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY; CDGS2, FORMERLY
NULL 212067 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx CDG-x
Number Sign 212070 CARBOXYPEPTIDASE N DEFICIENCY
NULL 212080 CARDIAC LIPIDOSIS, FAMILIAL
NULL 212090 CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA
Number Sign 212093 CARDIAC VALVULAR DEFECT, DEVELOPMENTAL; CVDD
NULL 212100 CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS
Caret 212110 MOVED TO 611880
Number Sign 212112 CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM MALOUF SYNDROME;; CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM;; CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE;; CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE;; NAJJAR SYNDROME;; GENITAL ANOMALY WITH CARDIOMYOPATHY;; CARDIOGENITAL SYNDROME
Caret 212120 MOVED TO 212112
Percent 212130 CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH
NULL 212135 CARDIOSKELETAL SYNDROME, KUWAITI TYPE
Number Sign 212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD CACT DEFICIENCY
Number Sign 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP SYSTEMIC CARNITINE DEFICIENCY; SCD;; CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE;; CARNITINE DEFICIENCY, PRIMARY;; CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF;; CARNITINE UPTAKE DEFECT; CUD
Percent 212160 CARNITINE DEFICIENCY, MYOPATHIC
Percent 212200 CARNOSINEMIA CARNOSINASE DEFICIENCY
Number Sign 212350 SENGERS SYNDROME MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE); MTDPS10;; CARDIOMYOPATHY AND CATARACT
NULL 212360 PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 2; PPKCA2 PPKCA, WALLIS TYPE;; CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME; CASS
Percent 212400 CATARACT AND CONGENITAL ICHTHYOSIS
Number Sign 212500 CATARACT 46, JUVENILE-ONSET; CTRCT46 CATARACT, JUVENILE, HUTTERITE TYPE
NULL 212540 CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME CAMFAK SYNDROME CATARACT, MICROCEPHALY, ARTHROGRYPOSIS, KYPHOSIS SYNDROME, INCLUDED;; CAMAK SYNDROME, INCLUDED
Number Sign 212550 OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY; ODRMD
Caret 212600 REMOVED FROM DATABASE
Caret 212700 REMOVED FROM DATABASE
NULL 212710 CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME POLYNEUROPATHY-CATARACT-DEAFNESS SYNDROME
Number Sign 212720 MARTSOLF SYNDROME CATARACT-MENTAL RETARDATION-HYPOGONADISM
Number Sign 212750 CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 CELIAC SPRUE, SUSCEPTIBILITY TO, 1;; GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 1
Number Sign 212780 CENANI-LENZ SYNDACTYLY SYNDROME; CLSS CENANI SYNDACTYLISM;; CENANI-LENZ SYNDACTYLY;; SYNDACTYLY, TYPE VII
Percent 212790 PREMATURE CENTROMERE DIVISION; PCD X-CHROMOSOME CENTROMERE PECULIARITY
NULL 212800 CEPHALIN LIPIDOSIS
NULL 212835 CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA
Number Sign 212840 GORDON HOLMES SYNDROME; GDHS CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM; CAHH;; LUTEINIZING HORMONE-RELEASING HORMONE, DEFICIENCY OF, WITH ATAXIA;; LHRH DEFICIENCY AND ATAXIA
NULL 212850 CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS
NULL 212890 CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA CEREBELLAR ATAXIA WITH LOSS OF PAIN AND TEMPERATURE SENSATION
Percent 212895 CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXES; EOCA
Caret 212900 MOVED TO 258450
Caret 212905 MOVED TO 606854
Percent 213000 CEREBELLAR HYPOPLASIA
NULL 213002 CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS
NULL 213010 CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ SYNDROME AND MECKEL SYNDROME
Percent 213100 CEREBELLOPARENCHYMAL DISORDER II; CPD2 CPD, LATE-ONSET RECESSIVE TYPE
Number Sign 213200 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2 CEREBELLAR HYPOPLASIA, NONPROGRESSIVE NORMAN TYPE;; CEREBELLAR GRANULAR CELL HYPOPLASIA AND MENTAL RETARDATION, CONGENITAL;; CEREBELLOPARENCHYMAL DISORDER III; CPD3;; CPD III
Number Sign 213300 JOUBERT SYNDROME 1; JBTS1 JOUBERT SYNDROME; JBTS;; JOUBERT-BOLTSHAUSER SYNDROME;; CEREBELLOPARENCHYMAL DISORDER IV; CPD4;; CEREBELLOOCULORENAL SYNDROME 1; CORS1
NULL 213400 CEREBELLOPARENCHYMAL DISORDER V; CPD5 SPINODENTATE ATROPHY;; DYSSYNERGIA CEREBELLARIS MYOCLONICA OF HUNT
NULL 213500 CEREBRAL ANGIOPATHY, DYSPHORIC
Number Sign 213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1 STRIOPALLIDODENTATE CALCINOSIS, BILATERAL; BSPDC;; STRIOPALLIDODENTATE CALCINOSIS, AUTOSOMAL DOMINANT, ADULT-ONSET;; CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, ADULT-ONSET;; FERROCALCINOSIS, CEREBROVASCULAR;; FAHR DISEASE, FAMILIAL, FORMERLY;; BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3, FORMERLY; IBGC3, FORMERLY
Number Sign 213700 CEREBROTENDINOUS XANTHOMATOSIS; CTX CEREBRAL CHOLESTERINOSIS
NULL 213820 CEREBRAL MALFORMATION, SEIZURES, HYPERTRICHOSIS, AND OVERLAPPING FINGERS
NULL 213900 CEREBRAL SCLEROSIS SIMILAR TO PELIZAEUS-MERZBACHER DISEASE
NULL 213950 CEREBROCORTICAL DEGENERATION OF INFANCY
Number Sign 213980 CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR CEREBROFACIOTHORACIC DYSPLASIA
Number Sign 214100 PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A ZS; ZWS;; CEREBROHEPATORENAL SYNDROME; CHR PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1, INCLUDED; CG1, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP E, INCLUDED; CGE, INCLUDED
Number Sign 214110 PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2, INCLUDED; CG2, INCLUDED
Number Sign 214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 COFS SYNDROME; COFS;; PENA-SHOKEIR SYNDROME, TYPE II
NULL 214200 CEROID STORAGE DISEASE LIPOFUSCIN STORAGE DISEASE
NULL 214290 CERVICAL VERTEBRAE, AGENESIS OF
Number Sign 214300 KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE; KFS2 KFS, AUTOSOMAL RECESSIVE;; CERVICAL VERTEBRAL FUSION, AUTOSOMAL RECESSIVE
NULL 214350 CHAND SYNDROME; CHANDS CURLY HAIR-ANKYLOBLEPHARON-NAIL DYSPLASIA SYNDROME
Percent 214370 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;; DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE
Caret 214380 MOVED TO 606002
Number Sign 214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4A
Number Sign 214450 GRISCELLI SYNDROME, TYPE 1; GS1 GRISCELLI SYNDROME WITH NEUROLOGIC IMPAIRMENT;; PARTIAL ALBINISM AND PRIMARY NEUROLOGIC DISEASE WITHOUT HEMOPHAGOCYTIC SYNDROME;; GRISCELLI SYNDROME, CUTANEOUS AND NEUROLOGIC TYPE
Number Sign 214500 CHEDIAK-HIGASHI SYNDROME; CHS
Number Sign 214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1 CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE;; CHLORIDORRHEA, CONGENITAL
Number Sign 214800 CHARGE SYNDROME CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES;; HALL-HITTNER SYNDROME; HHS
Percent 214900 CHOLESTASIS-LYMPHEDEMA SYNDROME CHLS;; AAGENAES SYNDROME;; LYMPHEDEMA-CHOLESTASIS SYNDROME; LCS; LCS1
Number Sign 214950 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE CONVERSION OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID;; TRIHYDROXYCOPROSTANIC ACID IN BILE
NULL 214980 CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE
NULL 215030 CHOLESTEROL PNEUMONIA
Number Sign 215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
NULL 215050 CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS
Number Sign 215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 PEROXISOME BIOGENESIS DISORDER 9; PBD9;; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC FORM; CDPR;; CHONDRODYSTROPHIA CALCIFICANS PUNCTATA
NULL 215105 CHONDRODYSPLASIA PUNCTATA SYNDROME
Number Sign 215140 GREENBERG DYSPLASIA; GRBGD HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA;; HEM SKELETAL DYSPLASIA;; MOTH-EATEN SKELETAL DYSPLASIA;; CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE
Number Sign 215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; OSMEDB OSMED;; CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS;; NANCE-INSLEY SYNDROME;; NANCE-SWEENEY CHONDRODYSPLASIA;; WEISSENBACHER-ZWEYMULLER SYNDROME, FORMERLY; WZS, FORMERLY
NULL 215250 CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME
Number Sign 215300 CHONDROSARCOMA
Number Sign 215400 CHORDOMA, SUSCEPTIBILITY TO; CHDM
NULL 215450 CHOREA, BENIGN FAMILIAL
Number Sign 215470 BOUCHER-NEUHAUSER SYNDROME; BNHS SPINOCEREBELLAR ATAXIA, HYPOGONADOTROPIC HYPOGONADISM, AND CHORIORETINAL DYSTROPHY
NULL 215480 CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION
Number Sign 215500 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR; CACD;; CHOROIDAL SCLEROSIS
NULL 215510 CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY
NULL 215518 CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION RUTLAND CILIARY DISORIENTATION SYNDROME
Percent 215520 CILIARY DYSKINESIA WITH TRANSPOSITION OF CILIARY MICROTUBULES
NULL 215550 CIRCUMVALLATE PLACENTA SYNDROME
Number Sign 215600 CIRRHOSIS, FAMILIAL CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED;; INDIAN CHILDHOOD CIRRHOSIS, INCLUDED; ICC, INCLUDED;; SEN SYNDROME, INCLUDED;; COPPER-OVERLOAD CIRRHOSIS, INCLUDED;; ENDEMIC TYROLEAN INFANTILE CIRRHOSIS, INCLUDED; ETIC, INCLUDED;; COPPER TOXICOSIS, IDIOPATHIC, INCLUDED; ICT, INCLUDED;; CIRRHOSIS, CRYPTOGENIC, INCLUDED;; CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO, INCLUDED
Number Sign 215700 CITRULLINEMIA, CLASSIC CITRULLINEMIA, TYPE I; CTLN1;; CITRULLINURIA;; ARGININOSUCCINATE SYNTHETASE DEFICIENCY;; ASS DEFICIENCY
NULL 215720 CITRULLINE TRANSPORT DEFECT
NULL 215800 CLEFT LARYNX, POSTERIOR STRIDOR, CONGENITAL, INCLUDED
NULL 215850 CLEFT-LIMB-HEART MALFORMATION SYNDROME CLH SYNDROME
NULL 216100 CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY OROCRANIODIGITAL SYNDROME;; JUBERG-HAYWARD SYNDROME; JHS
NULL 216300 CLEFT PALATE, DEAFNESS, AND OLIGODONTIA
NULL 216330 CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM
Number Sign 216340 YUNIS-VARON SYNDROME; YVS CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA
Number Sign 216360 COACH SYNDROME CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS;; JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS
Number Sign 216400 COCKAYNE SYNDROME A; CSA
Caret 216411 MOVED TO 216400
Number Sign 216550 COHEN SYNDROME; COH1 COH;; HYPOTONIA, OBESITY, AND PROMINENT INCISORS;; PEPPER SYNDROME;; CHS1, FORMERLY
Percent 216700 COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING; RPC
NULL 216800 COLOBOMA OF MACULA AND SKELETAL ANOMALIES
Number Sign 216820 COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
Number Sign 216900 ACHROMATOPSIA 2; ACHM2 COLORBLINDNESS, TOTAL;; ROD MONOCHROMATISM 2;; ROD MONOCHROMACY 2; RMCH2
NULL 216920 COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT
Percent 216950 COMPLEMENT COMPONENT C1r/C1s DEFICIENCY C1r/C1s DEFICIENCY
Number Sign 217000 COMPLEMENT COMPONENT 2 DEFICIENCY; C2D C2 DEFICIENCY
Asterisk 217030 COMPLEMENT FACTOR I; CFI COMPLEMENT COMPONENT I;; FACTOR I; FI;; C3b INACTIVATOR
Asterisk 217050 COMPLEMENT COMPONENT 6; C6
Asterisk 217070 COMPLEMENT COMPONENT 7; C7
Number Sign 217080 JALILI SYNDROME CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA
Number Sign 217085 CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY; CHDTHP
Number Sign 217090 PLASMINOGEN DEFICIENCY, TYPE I LIGNEOUS CONJUNCTIVITIS, INCLUDED;; DYSPLASMINOGENEMIA, INCLUDED;; PLASMINOGEN DEFICIENCY, TYPE II, INCLUDED
Number Sign 217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED;; CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED; CAFS, INCLUDED;; DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED; DORV, INCLUDED;; PERSISTENT TRUNCUS ARTERIOSUS, INCLUDED; PTA, INCLUDED;; INTERRUPTED AORTIC ARCH, INCLUDED
Percent 217100 CONSTRICTING BANDS, CONGENITAL AMNIOTIC BAND SEQUENCE; ABS;; STREETER ANOMALY ADAM COMPLEX, INCLUDED;; TERMINAL TRANSVERSE DEFECTS OF ARM, INCLUDED;; AMPUTATION, CONGENITAL, INCLUDED
NULL 217150 CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA
NULL 217200 CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET
Number Sign 217300 CORNEA PLANA 2, AUTOSOMAL RECESSIVE; CNA2
Number Sign 217400 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS; CDPD CDPD1;; CORNEAL DYSTROPHY AND SENSORINEURAL DEAFNESS;; HARBOYAN SYNDROME
Percent 217500 CORNEAL DYSTROPHY, BAND-SHAPED BAND KERATOPATHY
NULL 217520 CORNEAL DEGENERATION, BAND-SHAPED SPHEROID
NULL 217600 CENTRAL CLOUDY DYSTROPHY OF FRANCOIS; CCDF CORNEAL DYSTROPHY, CENTRAL TYPE
Number Sign 217700 CORNEAL ENDOTHELIAL DYSTROPHY; CHED CORNEAL DYSTROPHY, CONGENITAL HEREDITARY ENDOTHELIAL;; CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY OF CORNEA;; CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIVE, FORMERLY; CHED2, FORMERLY
Number Sign 217800 MACULAR DYSTROPHY, CORNEAL; MCD CORNEAL DYSTROPHY, MACULAR TYPE;; GROENOUW TYPE II CORNEAL DYSTROPHY;; MACULAR CORNEAL DYSTROPHY, TYPE I;; MCDC1, FORMERLY MACULAR CORNEAL DYSTROPHY, TYPE II, INCLUDED
Percent 217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE TORIELLO-CAREY SYNDROME
Percent 217990 CORPUS CALLOSUM, AGENESIS OF ACC
Number Sign 218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN CHARLEVOIX DISEASE;; ANDERMANN SYNDROME;; POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUS CALLOSUM;; CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY
NULL 218010 CORTICAL BLINDNESS, RETARDATION, AND POSTAXIAL POLYDACTYLY
Number Sign 218030 APPARENT MINERALOCORTICOID EXCESS; AME AME1;; CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
Number Sign 218040 COSTELLO SYNDROME; CSTLO FACIOCUTANEOSKELETAL SYNDROME;; FCS SYNDROME MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED; CMEMS, INCLUDED
NULL 218050 CRAMPS, FAMILIAL ADOLESCENT
NULL 218090 CRANE-HEISE SYNDROME CLEFT LIP/PALATE, AGENESIS OF CLAVICLES AND CERVICAL VERTEBRAE, AND TALIPES EQUINOVARUS
Percent 218100 CRANIAL NERVES, CONGENITAL PARESIS OF
NULL 218200 CRANIAL NERVES, RECURRENT PARESIS OF
NULL 218300 CRANIODIAPHYSEAL DYSPLASIA; CDD
Number Sign 218330 CRANIOECTODERMAL DYSPLASIA 1; CED1 SENSENBRENNER SYNDROME;; LEVIN SYNDROME I
Number Sign 218340 TEMTAMY SYNDROME; TEMTYS MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULAR COLOBOMA, OR ABNORMAL CORPUS CALLOSUM
NULL 218350 CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE BILATERAL LAMBDOID AND SAGITTAL SYNOSTOSIS; BLSS
Number Sign 218400 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR
NULL 218450 CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS PFEIFFER CARDIOCRANIAL SYNDROME
Caret 218455 MOVED TO 251200
Caret 218500 MOVED TO 123100 AND 123150
NULL 218530 CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS
NULL 218550 CRANIOSYNOSTOSIS WITH FIBULAR APLASIA
Number Sign 218600 BALLER-GEROLD SYNDROME; BGS CRANIOSYNOSTOSIS WITH RADIAL DEFECTS;; CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME
NULL 218649 CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG
NULL 218650 CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME
NULL 218670 CRANIOTELENCEPHALIC DYSPLASIA
Number Sign 218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 THYROID DYSGENESIS;; THYROID AGENESIS;; THYROID HYPOPLASIA;; THYROID, ECTOPIC;; HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS;; HYPOTHYROIDISM, ATHYREOTIC;; ATHYREOTIC HYPOTHYROIDISM;; RESISTANCE TO THYROTROPIN; RTSH;; THYROTROPIN RESISTANCE
Number Sign 218800 CRIGLER-NAJJAR SYNDROME, TYPE I HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I; HBLRCN1;; CRIGLER-NAJJAR SYNDROME
Percent 218900 CROME SYNDROME
Number Sign 219000 FRASER SYNDROME 1; FRASRS1 FRASER SYNDROME;; CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS;; CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
Number Sign 219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL UNDESCENDED TESTIS
NULL 219070 CURVED NAIL OF FOURTH TOE CLAW-LIKE FINGERS AND TOES
Number Sign 219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA;; ADRENOCORTICOTROPIC HORMONE-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA;; CORTICOTROPIN-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA;; CUSHING SYNDROME, ADRENAL, DUE TO AIMAH
Number Sign 219090 PITUITARY ADENOMA 4, ACTH-SECRETING; PITA4 CUSHING DISEASE, PITUITARY
NULL 219095 CUTANEOUS PHOTOSENSITIVITY AND COLITIS, LETHAL
Number Sign 219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A ARCL1;; CUTIS LAXA, AUTOSOMAL RECESSIVE
Number Sign 219150 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A DE BARSY SYNDROME A;; CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION;; PROGEROID SYNDROME OF DE BARSY
Number Sign 219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A ARCL2;; CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION;; CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY;; CUTIS LAXA, DEBRE TYPE;; CUTIS LAXA WITH BONE DYSTROPHY;; CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT
NULL 219250 CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC
NULL 219300 CUTIS VERTICIS GYRATA AND MENTAL RETARDATION; CVG/MR
NULL 219400 CYANOSIS AND HEPATIC DISEASE
Number Sign 219500 CYSTATHIONINURIA CYSTATHIONASE DEFICIENCY
NULL 219550 CYSTEINE PEPTIDURIA
NULL 219600 CYSTIC DISEASE OF LUNG
Number Sign 219700 CYSTIC FIBROSIS; CF MUCOVISCIDOSIS
NULL 219721 CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND MENTAL RETARDATION
Number Sign 219730 VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE; VMCKD
Number Sign 219750 CYSTINOSIS, ADULT NONNEPHROPATHIC CYSTINOSIS, OCULAR NONNEPHROPATHIC;; CYSTINOSIS, BENIGN NONNEPHROPATHIC
Number Sign 219800 CYSTINOSIS, NEPHROPATHIC; CTNS LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF;; CYSTINOSIN, DEFECT OF CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED;; CYSTINOSIS, ATYPICAL NEPHROPATHIC, INCLUDED
Number Sign 219900 CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE CYSTINOSIS, INTERMEDIATE
Number Sign 220100 CYSTINURIA CSNU;; CYSTINURIA, TYPE I, FORMERLY; CSNU1, FORMERLY;; CYSTINURIA, TYPE II, FORMERLY;; CYSTINURIA, TYPE III, FORMERLY; CSNU3, FORMERLY;; CYSTINURIA, TYPE NON-I, FORMERLY CYSTINURIA, TYPE A, INCLUDED;; CYSTINURIA, TYPE B, INCLUDED;; CYSTINURIA, TYPE A/B, INCLUDED
Number Sign 220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY CYTOCHROME c OXIDASE DEFICIENCY;; COX DEFICIENCY
Number Sign 220111 LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC CYTOCHROME c OXIDASE DEFICIENCY, FRENCH CANADIAN TYPE;; COX DEFICIENCY, FRENCH CANADIAN TYPE;; COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE;; LEIGH SYNDROME, SAGUENAY-LAC-SAINT-JEAN TYPE
Number Sign 220120 D-GLYCERIC ACIDURIA D-GLYCERIC ACIDEMIA;; GLYCERATE KINASE DEFICIENCY
Number Sign 220150 HYPOURICEMIA, RENAL, 1; RHUC1 DALMATIAN HYPOURICEMIA;; RENAL HYPOURICEMIA
Percent 220200 DANDY-WALKER SYNDROME; DWS DANDY-WALKER MALFORMATION, INCLUDED; DWM, INCLUDED
Number Sign 220210 RITSCHER-SCHINZEL SYNDROME 1; RTSC1 CRANIOCEREBELLOCARDIAC DYSPLASIA;; 3C SYNDROME;; DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT
NULL 220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY
NULL 220220 DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY DWM WITH POSTAXIAL POLYDACTYLY;; PIERQUIN SYNDROME
Number Sign 220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A DEAFNESS, DIGENIC, GJB2/GJB6, INCLUDED;; DEAFNESS, DIGENIC, GJB2/GJB3, INCLUDED
NULL 220300 DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY
Number Sign 220400 JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1 DEAFNESS, CONGENITAL, AND FUNCTIONAL HEART DISEASE;; PROLONGED QT INTERVAL IN EKG AND SUDDEN DEATH;; CARDIOAUDITORY SYNDROME OF JERVELL AND LANGE-NIELSEN;; SURDO-CARDIAC SYNDROME
Number Sign 220500 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS DOOR SYNDROME;; DIGITORENOCEREBRAL SYNDROME;; DRC SYNDROME;; BRACHYDACTYLY DUE TO ABSENCE OF DISTAL PHALANGES;; ERONEN SYNDROME
Number Sign 220600 SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE; SHFM1D DEAFNESS, CONGENITAL, WITH SPLIT HANDS AND FEET
Caret 220700 MOVED TO 220290
Caret 220800 MOVED TO 220700
NULL 220900 DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM
Caret 221000 REMOVED FROM DATABASE
Number Sign 221200 DEAFNESS AND MYOPIA; DFNMYP
Percent 221300 DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR
NULL 221320 DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES
Percent 221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA
NULL 221400 DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND PROGRESSIVE SENSORY NEUROPATHY GROLL-HIRSCHOWITZ SYNDROME
NULL 221500 DEAFNESS, NEURAL, CONGENITAL MODERATE
Caret 221600 MOVED TO 220290
Caret 221650 MOVED TO 220290
NULL 221700 DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS
NULL 221740 DEAFNESS-OLIGODONTIA SYNDROME
NULL 221745 DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE
Number Sign 221750 PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 PITUITARY HORMONE DEFICIENCY, COMBINED, WITH RIGID CERVICAL SPINE;; DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM
NULL 221760 DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF
Number Sign 221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL NASU-HAKOLA DISEASE; NHD;; PRESENILE DEMENTIA WITH BONE CYSTS;; DEMENTIA, PREFRONTAL, WITH BONE CYSTS;; DEMENTIA, PROGRESSIVE, WITH LIPOMEMBRANOUS POLYCYSTIC OSTEODYSPLASIA;; BRAIN-BONE-FAT DISEASE
NULL 221780 DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH
NULL 221790 DERMATOLEUKODYSTROPHY
Percent 221800 DERMOCHONDROCORNEAL DYSTROPHY FRANCOIS SYNDROME
NULL 221810 DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE KIRGHIZIAN DERMATOOSTEOLYSIS
Number Sign 221820 LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS; HDLS LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA; ALSP;; LEUKOENCEPHALOPATHY WITH NEUROAXONAL SPHEROIDS, AUTOSOMAL DOMINANT;; GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL; GPSC;; DEMENTIA, FAMILIAL, NEUMANN TYPE;; SUBCORTICAL GLIOSIS OF NEUMANN
Number Sign 221900 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE; PHPVAR RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC; NCRNA;; RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT;; PERSISTENT FETAL VASCULATURE
NULL 221950 DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA
NULL 221995 DIABETES INSIPIDUS, NEPHROGENIC, WITH MENTAL RETARDATION AND INTRACEREBRAL CALCIFICATION
Caret 222000 MOVED TO 125800
Percent 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM DIABETES MELLITUS, TYPE I;; JUVENILE-ONSET DIABETES; JOD DIABETES MELLITUS, INSULIN-DEPENDENT, 1, INCLUDED; IDDM1, INCLUDED;; INSULIN-DEPENDENT DIABETES MELLITUS 1, INCLUDED
Number Sign 222300 WOLFRAM SYNDROME 1; WFS1 WFS;; DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS; DIDMOAD
NULL 222350 DIAMINOPENTANURIA CYSTINE-LYSINURIA
Percent 222400 DIAPHRAGMATIC HERNIA 2; DIH2
Number Sign 222448 DONNAI-BARROW SYNDROME FACIOOCULOACOUSTICORENAL SYNDROME;; DBS/FOAR SYNDROME;; DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA
Number Sign 222470 TRICHOHEPATOENTERIC SYNDROME 1; THES1 THE SYNDROME;; DIARRHEA, SYNDROMIC;; DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA
NULL 222500 DIASTEMATOMYELIA
Number Sign 222600 DIASTROPHIC DYSPLASIA; DTD DD DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, INCLUDED
Percent 222690 DIBASIC AMINO ACIDURIA I
Number Sign 222700 LYSINURIC PROTEIN INTOLERANCE; LPI DIBASIC AMINO ACIDURIA II
Number Sign 222730 DICARBOXYLIC AMINOACIDURIA; DCBXA GLUTAMATE-ASPARTATE TRANSPORT DEFECT
Asterisk 222745 2,4-DIENOYL-CoA REDUCTASE 1, MITOCHONDRIAL; DECR1
Number Sign 222748 DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD DIHYDROPYRIMIDINURIA;; DPYS DEFICIENCY;; DPH DEFICIENCY
Caret 222760 MOVED TO 220500
Number Sign 222765 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY;; DHAPAT DEFICIENCY;; GLYCERONEPHOSPHATE O-ACYLTRANSFERASE DEFICIENCY;; GNPAT DEFICIENCY;; PEROXISOMAL DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY;; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC, DUE TO DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
Number Sign 222800 BISPHOSPHOGLYCERATE MUTASE DEFICIENCY BISPHOSPHOGLYCEROMUTASE DEFICIENCY;; BPGM DEFICIENCY;; DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE;; DPGM DEFICIENCY
Number Sign 222900 SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID DISACCHARIDE INTOLERANCE I;; SUCROSE-ISOMALTOSE MALABSORPTION, CONGENITAL;; SUCROSE INTOLERANCE, CONGENITAL;; SI DEFICIENCY
Number Sign 223000 LACTASE DEFICIENCY, CONGENITAL ALACTASIA, CONGENITAL;; DISACCHARIDE INTOLERANCE II
Number Sign 223100 LACTOSE INTOLERANCE, ADULT TYPE HYPOLACTASIA, ADULT TYPE;; ADULT LACTASE DEFICIENCY;; DISACCHARIDE INTOLERANCE III LACTASE PERSISTENCE, INCLUDED
Percent 223200 DISORGANIZATION, MOUSE, HOMOLOG OF DS
NULL 223300 DISSEMINATED SCLEROSIS WITH NARCOLEPSY
NULL 223320 DIVERTICULOSIS, SMALL-INTESTINAL
NULL 223330 DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT
NULL 223340 DK PHOCOMELIA SYNDROME PHOCOMELIA, THROMBOCYTOPENIA, ENCEPHALOCELE, UROGENITAL MALFORMATIONS;; VON VOSS-CHERSTVOY SYNDROME
NULL 223350 DOHLE BODIES AND LEUKEMIA
Number Sign 223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL NOREPINEPHRINE DEFICIENCY;; NORADRENALINE DEFICIENCY
Percent 223370 DUBOWITZ SYNDROME
NULL 223380 DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY OF
NULL 223400 DUODENAL ATRESIA
NULL 223500 DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE
NULL 223540 DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY MOLLICA SYNDROME
NULL 223550 DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION
Caret 223600 MOVED TO 127100
Caret 223610 MOVED TO 228900
Number Sign 223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC
Number Sign 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 HSAN III;; DYSAUTONOMIA, FAMILIAL; DYS; FD;; RILEY-DAY SYNDROME
NULL 224000 DYSAUTONOMIA-LIKE DISORDER
Number Sign 224050 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1 CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED;; CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1;; CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE;; DYSEQUILIBRIUM SYNDROME; DES
Number Sign 224100 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II; CDAN2 DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II;; CDA II;; DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE;; HEREDITARY ERYTHROBLASTIC MULTINUCLEARITY WITH POSITIVE ACIDIFIED-SERUM TEST; HEMPAS
Number Sign 224120 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia; CDAN1A DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia;; CDA Ia;; ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I
Caret 224200 MOVED TO 229200
Number Sign 224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1
NULL 224250 DYSMYELINATION WITH JAUNDICE
Percent 224300 DYSOSTEOSCLEROSIS
Percent 224400 DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE DDRD;; DYSSEGMENTAL DWARFISM, ROLLAND-DESBUQUOIS TYPE;; ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, ROLLAND-DESBUQUOIS TYPE
Number Sign 224410 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH DYSSEGMENTAL DWARFISM, SILVERMAN-HANDMAKER TYPE;; ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPE
Number Sign 224500 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2 DYSTONIA MUSCULORUM DEFORMANS 2
NULL 224550 DYSTONIA WITH RINGBINDEN
Caret 224570 MOVED TO 500001
Caret 224600 MOVED TO 128200
Number Sign 224690 MEIER-GORLIN SYNDROME 1; MGORS1 EAR, PATELLA, SHORT STATURE SYNDROME; EPS;; MICROTIA, ABSENT PATELLAE, MICROGNATHIA SYNDROME;; MEIER-GORLIN SYNDROME
NULL 224700 EBSTEIN ANOMALY
Number Sign 224750 SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS;; ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA
NULL 224800 ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS
Number Sign 224900 ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B ECTODERMAL DYSPLASIA, HYPOHIDROTIC; HED;; ECTODERMAL DYSPLASIA, ANHIDROTIC; EDA
Percent 225000 ROSSELLI-GULIENETTI SYNDROME
NULL 225040 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM
NULL 225050 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY DYSKINESIA HEDH SYNDROME
Number Sign 225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 ZLOTOGORA-OGUR SYNDROME;; ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE;; ECTODERMAL DYSPLASIA, TYPE 4; ED4;; ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY OROFACIAL CLEFT 7, INCLUDED; OFC7, INCLUDED;; CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7, INCLUDED
Number Sign 225100 ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2
Number Sign 225200 ECTOPIA LENTIS ET PUPILLAE ECTOPIA LENTIS WITH ECTOPIA OF PUPIL
Number Sign 225250 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5
Number Sign 225280 ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME; EEMS EEM SYNDROME
NULL 225290 ECTRODACTYLY-POLYDACTYLY
Number Sign 225300 SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 ECTRODACTYLY, AUTOSOMAL RECESSIVE
NULL 225310 EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY FN ABNORMALITY;; EHLERS-DANLOS SYNDROME, TYPE X;; EDS X; EDS10;; EHLERS-DANLOS SYNDROME, DYSFIBRONECTINEMIC TYPE
Number Sign 225320 EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE; EDSCV
Caret 225350 MOVED TO 130050
Caret 225360 REMOVED FROM DATABASE
Number Sign 225400 EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1; EDSKSCL1 EHLERS-DANLOS SYNDROME, TYPE VI; EDS6;; EDS VI;; EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE;; NEVO SYNDROME;; EHLERS-DANLOS SYNDROME, TYPE VIA, FORMERLY; EDS6A, FORMERLY
Number Sign 225410 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE; EDSDERMS DERMATOSPARAXIS;; EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE;; EDS VIIC;; EDS7C
Caret 225450 MOVED TO 182860
Number Sign 225500 ELLIS-VAN CREVELD SYNDROME; EVC CHONDROECTODERMAL DYSPLASIA;; MESOECTODERMAL DYSPLASIA
NULL 225700 ENCEPHALOMALACIA, MULTILOCULAR
NULL 225740 ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS LYON SYNDROME
Number Sign 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1 AGS;; ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS;; CREE ENCEPHALITIS;; PSEUDOTOXOPLASMOSIS SYNDROME AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT, INCLUDED
Number Sign 225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA
NULL 225755 ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY, MICROCEPHALY, AND RETINAL DEGENERATION
Number Sign 225790 PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH HYDRANENCEPHALY, FOWLER TYPE;; HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY;; ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY; EPV
Caret 225795 MOVED TO 166000
NULL 226000 ENDOCARDIAL FIBROELASTOSIS; EFE
NULL 226100 ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA
NULL 226110 ENDOTHELIAL DYSTROPHY, CONGENITAL HEREDITARY, WITH NAIL HYPOPLASIA
NULL 226150 ENTEROCOLITIS
Number Sign 226200 ENTEROKINASE DEFICIENCY ENTEROPEPTIDASE DEFICIENCY
Number Sign 226300 COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY; CHAPLE
NULL 226350 EOSINOPHILIC FASCIITIS
Number Sign 226400 EPIDERMODYSPLASIA VERRUCIFORMIS; EV
NULL 226440 EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION
Caret 226450 MOVED TO 226600 AND 226650
Percent 226500 EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA EPIDERMOLYSIS BULLOSA WITH CONGENITAL DEAFNESS;; EPIDERMOLYSIS BULLOSA PROGRESSIVA, RECESSIVE; EBR3
Number Sign 226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE;; EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1;; EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED;; EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE, INCLUDED
Number Sign 226650 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE;; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE;; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL;; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE;; EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, INCLUDED;; JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA, INCLUDED;; JEB-I, INCLUDED
Number Sign 226670 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY; EBSMD EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY;; MD-EBS; MDEBS
Number Sign 226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE;; JEB-HERLITZ TYPE;; EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ-PEARSON TYPE;; HERLITZ-PEARSON-TYPE EPIDERMOLYSIS BULLOSA;; EPIDERMOLYSIS BULLOSA LETALIS
Number Sign 226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA;; JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA;; JEB-PA;; EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA AND APLASIA CUTIS CONGENITA;; EB-PA-ACC;; CARMI SYNDROME;; APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA
NULL 226735 EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA
Number Sign 226750 KOHLSCHUTTER-TONZ SYNDROME; KTZS EPILEPSY AND YELLOW TEETH;; EPILEPSY, DEMENTIA, AND AMELOGENESIS IMPERFECTA;; KOHLSCHUTTER SYNDROME
NULL 226800 EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION
NULL 226810 EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS
NULL 226850 EPILEPSY-TELANGIECTASIA
Number Sign 226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4 MULTIPLE EPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE;; MULTIPLE EPIPHYSEAL DYSPLASIA WITH CLUBFOOT;; MULTIPLE EPIPHYSEAL DYSPLASIA WITH BILAYERED PATELLAE
NULL 226950 EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS
Percent 226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS LOWRY-WOOD SYNDROME; LWS
Number Sign 226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS MED-IDDM SYNDROME;; IDDM-MED SYNDROME;; WOLCOTT-RALLISON SYNDROME
NULL 226985 EPITHELIAL SQUAMOUS DYSPLASIA, KERATINIZING DESQUAMATIVE, OF URINARY TRACT
NULL 226990 EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY
NULL 227000 ERYTHEMA OF ACRAL REGIONS
NULL 227010 ERMINE PHENOTYPE PIGMENTARY DISORDER WITH HEARING LOSS BLACK LOCKS WITH ALBINISM AND DEAFNESS SYNDROME, INCLUDED; BADS, INCLUDED
Percent 227050 TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD; TEC ERYTHROBLASTOPENIA, TRANSIENT
Percent 227090 ERYTHRODERMA, LETHAL CONGENITAL
Caret 227100 MOVED TO 120900
Percent 227150 ETHANOLAMINOSIS ETHANOLAMINE KINASE DEFICIENCY
Caret 227200 MOVED TO 614841
NULL 227210 EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY
Number Sign 227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES;; SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR;; EYE COLOR, BROWN/BLUE;; EYE COLOR, BLUE/NONBLUE;; EYE COLOR 3; EYCL3;; BROWN EYE COLOR 2; BEY2;; HAIR COLOR 3; HCL3
Number Sign 227240 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5 SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR;; SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES;; SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN
NULL 227250 FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION
NULL 227255 FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS
Number Sign 227260 FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 SETLEIS SYNDROME;; BITEMPORAL FORCEPS MARKS SYNDROME;; FACIAL ECTODERMAL DYSPLASIA;; FOCAL FACIAL DERMAL DYSPLASIA, TYPE II, FORMERLY
NULL 227270 FACIOCARDIOMELIC DYSPLASIA, LETHAL
NULL 227280 FACIOCARDIORENAL SYNDROME EASTMAN-BIXLER SYNDROME
Caret 227290 MOVED TO 222448
Caret 227295 MOVED TO 211910
Number Sign 227300 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1; F5F8D1 FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY I; FMFD1;; FMFD I;; MULTIPLE COAGULATION FACTOR DEFICIENCY I; MCFD1
NULL 227310 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN C AND PROTEIN C INHIBITOR
NULL 227320 FACIOTHORACOGENITAL SYNDROME
Percent 227330 FACIODIGITOGENITAL SYNDROME, AUTOSOMAL RECESSIVE AARSKOG-LIKE SYNDROME;; KUWAIT TYPE FACIODIGITOGENITAL SYNDROME
Number Sign 227400 FACTOR V DEFICIENCY PARAHEMOPHILIA;; OWREN PARAHEMOPHILIA;; LABILE FACTOR DEFICIENCY
Number Sign 227500 FACTOR VII DEFICIENCY F7 DEFICIENCY;; HYPOPROCONVERTINEMIA
Number Sign 227600 FACTOR X DEFICIENCY F10 DEFICIENCY;; STUART-PROWER FACTOR DEFICIENCY
Number Sign 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC FACC; FAC;; FANCONI PANCYTOPENIA, TYPE 3; FA3
Number Sign 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 FAD2;; FANCONI ANEMIA, COMPLEMENTATION GROUP D; FANCD; FACD;; FANCONI PANCYTOPENIA, TYPE 4; FA4
Number Sign 227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA FANCONI ANEMIA; FA FANCONI ANEMIA, ESTREN-DAMESHEK VARIANT, INCLUDED;; ESTREN-DAMESHEK VARIANT OF FANCONI ANEMIA, INCLUDED;; ESTREN-DAMESHEK VARIANT OF FANCONI PANCYTOPENIA, INCLUDED
Caret 227660 MOVED TO 300514
Caret 227700 MOVED TO 134600
Caret 227800 MOVED TO 134600
Number Sign 227810 FANCONI-BICKEL SYNDROME; FBS HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME;; HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHY;; HEPATIC GLYCOGENOSIS WITH AMINO ACIDURIA AND GLUCOSURIA;; FANCONI SYNDROME WITH INTESTINAL MALABSORPTION AND GALACTOSE INTOLERANCE;; PSEUDO-PHLORIZIN DIABETES;; GLYCOGENOSIS, FANCONI TYPE;; GLYCOGEN STORAGE DISEASE XI
NULL 227850 FANCONI-LIKE SYNDROME
Number Sign 228000 FARBER LIPOGRANULOMATOSIS; FRBRL FARBER DISEASE;; CERAMIDASE DEFICIENCY;; ACID CERAMIDASE DEFICIENCY;; AC DEFICIENCY;; N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY
NULL 228020 FASCIAL DYSTROPHY, CONGENITAL
Percent 228100 VISCERAL STEATOSIS, CONGENITAL FATTY LIVER DISEASE, CONGENITAL;; FATTY METAMORPHOSIS OF VISCERA;; STEATOSIS OF LIVER;; WHITE LIVER DISEASE
NULL 228200 FEMUR-FIBULA-ULNA SYNDROME FFU SYNDROME
Percent 228250 FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY GOLLOP-WOLFGANG COMPLEX; GWC
Number Sign 228300 HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 PASQUALINI SYNDROME;; FERTILE EUNUCH SYNDROME
NULL 228355 FETAL IODINE DEFICIENCY DISORDER; FIDD ENDEMIC CRETINISM
NULL 228400 FEVER, FAMILIAL LIFELONG PERSISTENT
Number Sign 228520 FIBROCHONDROGENESIS 1; FBCG1
Number Sign 228550 MYOFIBROMATOSIS, INFANTILE, 1; IMF1 MYOFIBROMATOSIS, JUVENILE;; FIBROMATOSIS, CONGENITAL GENERALIZED; CGF
NULL 228560 FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES
Number Sign 228600 HYALINE FIBROMATOSIS SYNDROME; HFS HYALINOSIS, SYSTEMIC
NULL 228800 FIBROSCLEROSIS, MULTIFOCAL MEDIASTINAL FIBROSIS, FAMILIAL;; RETROPERITONEAL FIBROSIS, FAMILIAL
Number Sign 228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY DU PAN SYNDROME
Number Sign 228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY FUHRMANN SYNDROME
NULL 228940 FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES
Number Sign 228960 HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY HMWK DEFICIENCY;; KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT;; FITZGERALD TRAIT KININOGEN DEFICIENCY, TOTAL, INCLUDED;; KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT AND LOW MOLECULAR WEIGHT, INCLUDED;; FLAUJEAC TRAIT, INCLUDED;; WILLIAMS TRAIT, INCLUDED
Number Sign 228980 FLECK RETINA, FAMILIAL BENIGN; FRFB
NULL 228990 FLECK RETINA OF KANDORI
Asterisk 229000 KALLIKREIN B, PLASMA, 1; KLKB1 PREKALLIKREIN; PKK;; FLETCHER FACTOR;; KLK3, FORMERLY
NULL 229045 FOCAL EPITHELIAL HYPERPLASIA, ORAL FEH, ORAL;; HECK DISEASE
Number Sign 229050 FOLATE MALABSORPTION, HEREDITARY
Number Sign 229070 HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA; HH24 FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED
Number Sign 229100 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY FORMIMINOTRANSFERASE DEFICIENCY;; FORMIMINOGLUTAMIC ACIDURIA;; FIGLU-URIA
Percent 229120 FOUNTAIN SYNDROME MENTAL RETARDATION, SENSORINEURAL DEAFNESS, SKELETAL ABNORMALITIES, AND COARSE FACE WITH FULL LIPS
Caret 229150 MOVED TO 300624
Number Sign 229200 BRITTLE CORNEA SYNDROME 1; BCS1 FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY;; CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY;; DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE;; EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY; EDS6B, FORMERLY
NULL 229230 FRASER-LIKE SYNDROME FUSED EYELIDS, AIRWAY ANOMALIES, OVARIAN CYSTS, AND DIGITAL ANOMALIES
NULL 229250 FREESIA FLOWERS, INABILITY TO SMELL
Number Sign 229300 FRIEDREICH ATAXIA 1; FRDA FRDA1;; FA FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED
NULL 229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA
Percent 229400 FRONTOFACIONASAL DYSPLASIA FFND;; FRONTOFACIONASAL DYSOSTOSIS
Percent 229500 FRUCTOSE AND GALACTOSE INTOLERANCE
Number Sign 229600 FRUCTOSE INTOLERANCE, HEREDITARY FRUCTOSEMIA;; FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY;; FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY;; ALDOLASE B DEFICIENCY;; ALDOB DEFICIENCY
NULL 229650 FRUCTOSE UTILIZATION
Number Sign 229700 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY; FBP1D
Number Sign 229800 FRUCTOSURIA, ESSENTIAL HEPATIC FRUCTOKINASE DEFICIENCY;; KETOHEXOKINASE DEFICIENCY
Percent 229850 FRYNS SYNDROME; FRNS DIAPHRAGMATIC HERNIA, ABNORMAL FACE, AND DISTAL LIMB ANOMALIES
Caret 229900 MOVED TO 258870
Caret 229950 MOVED TO 136820
Number Sign 230000 FUCOSIDOSIS ALPHA-L-FUCOSIDASE DEFICIENCY
Number Sign 230200 GALACTOKINASE DEFICIENCY GALK DEFICIENCY;; GALACTOSEMIA II
NULL 230300 GALACTORRHEA
Number Sign 230350 GALACTOSE EPIMERASE DEFICIENCY GALE DEFICIENCY;; GALACTOSEMIA III;; UDP-GALACTOSE-4-EPIMERASE DEFICIENCY
Number Sign 230400 GALACTOSEMIA GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY;; GALT DEFICIENCY;; GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT, INCLUDED
Caret 230430 MOVED TO 300622
Number Sign 230450 GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
Number Sign 230500 GM1-GANGLIOSIDOSIS, TYPE I GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I;; GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM;; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1;; BETA-GALACTOSIDASE-1 DEFICIENCY;; GLB1 DEFICIENCY GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED;; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED
Number Sign 230600 GM1-GANGLIOSIDOSIS, TYPE II GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPE;; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II;; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2 GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED
Number Sign 230650 GM1-GANGLIOSIDOSIS, TYPE III GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE;; GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE;; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III;; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3
Caret 230700 MOVED TO 272800
Caret 230710 MOVED TO 272800
Number Sign 230740 GAPO SYNDROME GROWTH RETARDATION, ALOPECIA, PSEUDOANODONTIA, AND OPTIC ATROPHY
NULL 230750 GASTROSCHISIS ABDOMINAL WALL DEFECTS, INCLUDED
Number Sign 230800 GAUCHER DISEASE, TYPE I GD I;; GAUCHER DISEASE, NONCEREBRAL JUVENILE;; GLUCOCEREBROSIDASE DEFICIENCY;; ACID BETA-GLUCOSIDASE DEFICIENCY;; GBA DEFICIENCY
Number Sign 230900 GAUCHER DISEASE, TYPE II GD II;; GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE
Number Sign 231000 GAUCHER DISEASE, TYPE III GD III;; GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPE;; GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE;; GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL GAUCHER DISEASE, TYPE IIIA, INCLUDED;; GAUCHER DISEASE, TYPE IIIB, INCLUDED;; GAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED
Number Sign 231005 GAUCHER DISEASE, TYPE IIIC
Number Sign 231050 GELEOPHYSIC DYSPLASIA 1; GPHYSD1
NULL 231060 GENITOPALATOCARDIAC SYNDROME GARDNER-SILENGO-WACHTEL SYNDROME;; MALE PSEUDOHERMAPHRODITISM WITH MICROGNATHIA, CLEFT PALATE, AND CONOTRUNCAL CARDIAC DEFECT
Number Sign 231070 GERODERMA OSTEODYSPLASTICUM; GO GERODERMIA OSTEODYSPLASTICA;; WALT DISNEY DWARFISM
NULL 231080 GERMAN SYNDROME
Number Sign 231090 HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1 HYDATIDIFORM MOLE; HYDM;; HYDATIDIFORM MOLE, COMPLETE; CHM;; GESTATIONAL TROPHOBLASTIC DISEASE
Number Sign 231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD GHOSAL SYNDROME
NULL 231100 HEMOCHROMATOSIS, NEONATAL NH;; NHC;; ALLOIMMUNE HEPATITIS, CONGENITAL;; NEONATAL HEPATITIS, FORMERLY;; GIANT CELL HEPATITIS, FORMERLY
Number Sign 231200 BERNARD-SOULIER SYNDROME; BSS BLEEDING DISORDER, PLATELET-TYPE, 1; BDPLT1;; PLATELET GLYCOPROTEIN Ib DEFICIENCY;; GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF;; VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY BERNARD-SOULIER SYNDROME, TYPE A1, INCLUDED;; BERNARD-SOULIER SYNDROME, TYPE B, INCLUDED;; BERNARD-SOULIER SYNDROME, TYPE C, INCLUDED
Number Sign 231300 GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A GLAUCOMA, CONGENITAL; GLC3;; BUPHTHALMOS GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED;; GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, INCLUDED
Caret 231400 REMOVED FROM DATABASE
Caret 231500 MOVED TO 231300
Caret 231520 MOVED TO 273750
Number Sign 231530 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY HADH DEFICIENCY;; SCHAD DEFICIENCY, FORMERLY
Number Sign 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS TRIPLE-A SYNDROME;; ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER;; GLUCOCORTICOID DEFICIENCY AND ACHALASIA;; ALLGROVE SYNDROME;; ADDISONIAN-ACHALASIA SYNDROME;; HYPOADRENALISM WITH ACHALASIA;; ALACRIMA-ACHALASIA-ADDISONIANISM;; ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA ACHALASIA-ALACRIMA SYNDROME, INCLUDED
Caret 231610 REMOVED FROM DATABASE
NULL 231630 MONOSODIUM GLUTAMATE SENSITIVITY CHINESE RESTAURANT SYNDROME
Number Sign 231670 GLUTARIC ACIDEMIA I; GA1 GLUTARIC ACIDURIA I;; GA I;; GLUTARYL-CoA DEHYDROGENASE DEFICIENCY
Asterisk 231675 ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH ELECTRON TRANSFER FLAVOPROTEIN:UBIQUINONE OXIDOREDUCTASE; ETFQO
Number Sign 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD GLUTARIC ACIDEMIA II; GA2;; GLUTARIC ACIDURIA II;; GA II;; ETHYLMALONIC-ADIPICACIDURIA; EMA GLUTARIC ACIDEMIA IIA, INCLUDED; GA2A, INCLUDED;; ETFA DEFICIENCY, INCLUDED;; GLUTARIC ACIDEMIA IIB, INCLUDED; GA2B, INCLUDED;; ETFB DEFICIENCY, INCLUDED;; GLUTARIC ACIDEMIA IIC, INCLUDED; GA2C, INCLUDED;; ETFDH DEFICIENCY, INCLUDED
Number Sign 231690 GLUTARIC ACIDURIA III; GA3 GA III;; GLUTARYL-CoA OXIDASE DEFICIENCY
Number Sign 231900 GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO; GSSDE
NULL 231950 GLUTATHIONURIA GAMMA-GLUTAMYLTRANSPEPTIDASE DEFICIENCY;; GGT DEFICIENCY;; GTG DEFICIENCY;; GAMMA-GLUTAMYLTRANSFERASE DEFICIENCY
NULL 231970 GLUTEAL MUSCLES, ABSENCE OF
Asterisk 232000 PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA pccA COMPLEMENTATION GROUP
Asterisk 232050 PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; PCCB pccBC COMPLEMENTATION GROUP
Number Sign 232200 GLYCOGEN STORAGE DISEASE Ia; GSD1A GSD Ia;; GLYCOGEN STORAGE DISEASE I; GSD1;; VON GIERKE DISEASE;; HEPATORENAL FORM OF GLYCOGEN STORAGE DISEASE;; GLUCOSE-6-PHOSPHATASE DEFICIENCY;; HEPATORENAL GLYCOGENOSIS
Caret 232210 MOVED TO 232200
Number Sign 232220 GLYCOGEN STORAGE DISEASE Ib; GSD1B GSD Ib;; GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT
Number Sign 232240 GLYCOGEN STORAGE DISEASE Ic; GSD1C GSD Ic GLYCOGEN STORAGE DISEASE Id, INCLUDED; GSD1D, INCLUDED
Number Sign 232300 GLYCOGEN STORAGE DISEASE II; GSD2 GSD II; ACID ALPHA-GLUCOSIDASE DEFICIENCY;; GAA DEFICIENCY;; POMPE DISEASE;; GLYCOGENOSIS, GENERALIZED, CARDIAC FORM;; CARDIOMEGALIA GLYCOGENICA DIFFUSA;; ACID MALTASE DEFICIENCY; AMD;; ALPHA-1,4-GLUCOSIDASE DEFICIENCY
Caret 232330 MOVED TO 300257
Number Sign 232400 GLYCOGEN STORAGE DISEASE III; GSD3 FORBES DISEASE;; CORI DISEASE;; LIMIT DEXTRINOSIS;; AMYLO-1,6-GLUCOSIDASE DEFICIENCY;; AGL DEFICIENCY;; GLYCOGEN DEBRANCHER DEFICIENCY;; GDE DEFICIENCY GLYCOGEN STORAGE DISEASE IIIa, INCLUDED; GSD IIIa, INCLUDED;; GLYCOGEN STORAGE DISEASE IIIb, INCLUDED; GSD IIIb, INCLUDED;; GLYCOGEN STORAGE DISEASE IIIc, INCLUDED; GSD IIIc, INCLUDED;; GLYCOGEN STORAGE DISEASE IIId, INCLUDED; GSD IIId, INCLUDED
Number Sign 232500 GLYCOGEN STORAGE DISEASE IV; GSD4 GSD IV;; GLYCOGEN BRANCHING ENZYME DEFICIENCY;; GBE1 DEFICIENCY;; ANDERSEN DISEASE;; BRANCHER DEFICIENCY;; GLYCOGENOSIS IV;; AMYLOPECTINOSIS;; CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN GSD IV, CLASSIC HEPATIC, INCLUDED;; GSD IV, NONPROGRESSIVE HEPATIC, INCLUDED;; GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL, INCLUDED;; GSD IV, NEUROMUSCULAR FORM, CONGENITAL, INCLUDED;; GSD IV, NEUROMUSCULAR FORM, CHILDHOOD, INCLUDED;; GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY, INCLUDED
Number Sign 232600 GLYCOGEN STORAGE DISEASE V; GSD5 GSD V;; MCARDLE DISEASE;; MYOPHOSPHORYLASE DEFICIENCY;; MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY;; PYGM DEFICIENCY
Number Sign 232700 GLYCOGEN STORAGE DISEASE VI; GSD6 GSD VI;; HERS DISEASE;; PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER
Number Sign 232800 GLYCOGEN STORAGE DISEASE VII; GSD7 GSD VII;; MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY;; PFKM DEFICIENCY;; TARUI DISEASE
NULL 232900 GLYCOPROTEIN STORAGE DISEASE
Number Sign 233100 RENAL GLUCOSURIA; GLYS GLYS1;; GLYCOSURIA, RENAL
NULL 233270 GOMBO SYNDROME GROWTH RETARDATION, OCULAR ABNORMALITIES, MICROCEPHALY, BRACHYDACTYLY, AND OLIGOPHRENIA
Number Sign 233300 OVARIAN DYSGENESIS 1; ODG1 OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE;; OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE;; GONADAL DYSGENESIS, XX TYPE;; XX GONADAL DYSGENESIS; XXGD;; OVARIAN FAILURE, HYPERGONADOTROPIC
Number Sign 233400 PERRAULT SYNDROME 1; PRLTS1 OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS;; GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS
Number Sign 233420 46,XY SEX REVERSAL 7; SRXY7 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, DHH-RELATED;; 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, DHH-RELATED;; GONADAL DYSGENESIS, XY, MALE-LIMITED; GDXYM
NULL 233430 GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES
NULL 233450 GOODPASTURE SYNDROME
Caret 233500 MOVED TO 612289
NULL 233600 GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY
Number Sign 233650 COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS; CCHIDG
NULL 233670 GRANULOMATOUS DISEASE WITH DEFECT IN NEUTROPHIL CHEMOTAXIS
Number Sign 233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE;; CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b;; CYBA DEFICIENCY
Number Sign 233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I; CDG1 CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE I;; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY;; NEUTROPHIL CYTOSOL FACTOR 1, DEFICIENCY OF;; NCF1, DEFICIENCY OF;; SOLUBLE OXIDASE COMPONENT II, DEFICIENCY OF;; SOC2, DEFICIENCY OF;; p47-PHOX, DEFICIENCY OF
Number Sign 233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II; CDG2 CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II;; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY;; NEUTROPHIL CYTOSOL FACTOR 2, DEFICIENCY OF;; NCF2, DEFICIENCY OF;; p67-PHOX, DEFICIENCY OF
NULL 233800 GROUPED PIGMENTATION OF THE RETINA GROUPED PIGMENTATION OF RETINAL PIGMENT EPITHELIUM;; GROUPED PIGMENTATION OF THE MACULA
NULL 233805 GROWTH FACTORS, COMBINED DEFECT OF INSULIN, INSULIN-LIKE GROWTH FACTOR I, AND EPIDERMAL GROWTH FACTOR DEFICIENCY;; WERNER-LIKE SYNDROME DUE TO COMBINED GROWTH FACTOR DEFICIENCY
NULL 233810 GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA
Number Sign 233910 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASE I DEFICIENCY;; GTP CYCLOHYDROLASE I DEFICIENCY DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE, INCLUDED
Number Sign 234000 FACTOR XII DEFICIENCY F12 DEFICIENCY;; HAGEMAN FACTOR DEFICIENCY;; HAF DEFICIENCY
NULL 234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION
Number Sign 234050 TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;; AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;; HAIR-BRAIN SYNDROME;; BIDS SYNDROME;; POLLITT SYNDROME;; TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME
Percent 234100 HALLERMANN-STREIFF SYNDROME; HSS FRANCOIS DYSCEPHALIC SYNDROME
Number Sign 234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN;; PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET;; HALLERVORDEN-SPATZ DISEASE
NULL 234250 HALL-RIGGS MENTAL RETARDATION SYNDROME
NULL 234280 HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY
NULL 234300 HALO NEVI LEUKODERMA ACQUISITUM CENTRIFUGUM OF SUTTON
NULL 234350 HALOTHANE HEPATITIS
Number Sign 234500 HARTNUP DISORDER; HND HARTNUP DISEASE
Number Sign 234580 HEIMLER SYNDROME 1; HMLR1 HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS;; PEROXISOME BIOGENESIS DISORDER 1C; PBD1C
NULL 234700 HEART BLOCK, CONGENITAL
NULL 234750 HEART, MALFORMATION OF
NULL 234800 HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES
Number Sign 234810 PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY
NULL 234820 HEMANGIOPERICYTOMA, MALIGNANT
Percent 235000 HEMIHYPERPLASIA, ISOLATED; IH HEMIHYPERPLASIA; HHP;; HEMIHYPERTROPHY, ISOLATED HEMI-3 SYNDROME, INCLUDED
Number Sign 235200 HEMOCHROMATOSIS, TYPE 1; HFE1 HEMOCHROMATOSIS; HFE;; HEMOCHROMATOSIS, HEREDITARY; HH
Percent 235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY URIOSTE SYNDROME
Caret 235360 MOVED TO 219100
NULL 235370 HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS
Number Sign 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 AHUS, SUSCEPTIBILITY TO, 1 HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED
NULL 235500 HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN
Number Sign 235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1; HKLLS1 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME;; LYMPHATIC DYSPLASIA, GENERALIZED
Number Sign 235550 HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI
Number Sign 235555 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2 CHOLESTASIS WITH DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE DEFICIENCY
Caret 235600 MOVED TO 400045
Number Sign 235700 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
Number Sign 235730 MOWAT-WILSON SYNDROME; MOWS MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITH OR WITHOUT HIRSCHSPRUNG DISEASE;; HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME
Caret 235735 MOVED TO 277580
NULL 235740 HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS
NULL 235750 HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT
NULL 235760 HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES
Number Sign 235800 HISTIDINEMIA HISTIDINE AMMONIA-LYASE DEFICIENCY;; HAL DEFICIENCY;; HISTIDASE DEFICIENCY;; HIS DEFICIENCY
Percent 235830 HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT
Percent 235900 HISTIOCYTOSIS, FAMILIAL LIPOCHROME
Number Sign 236000 LYMPHOMA, HODGKIN, CLASSIC; CHL HODGKIN DISEASE
Percent 236100 HOLOPROSENCEPHALY 1; HPE1 HOLOPROSENCEPHALY, FAMILIAL ALOBAR;; HPE, FAMILIAL; HPEC;; ARHINENCEPHALY;; CYCLOPIA;; DEMYER SEQUENCE
NULL 236110 HOLZGREVE SYNDROME
NULL 236130 HOMOCARNOSINOSIS HOMOCARNOSINASE DEFICIENCY
Number Sign 236200 HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE;; CYSTATHIONINE BETA-SYNTHASE DEFICIENCY;; CBS DEFICIENCY HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED
Number Sign 236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY;; MTHFR DEFICIENCY MTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED
Number Sign 236270 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE; HMAE HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE;; VITAMIN B12-RESPONSIVE HOMOCYSTINURIA, cblE TYPE;; METHYLCOBALAMIN DEFICIENCY, cblE TYPE
NULL 236300 HOOFT DISEASE
Percent 236400 HUMERORADIAL SYNOSTOSIS HUMERORADIAL/MULTIPLE SYNOSTOSIS SYNDROME, INCLUDED
NULL 236410 HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES
NULL 236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME COND;; CEREBROOSTEONEPHOSIS SYNDROME
Caret 236490 MOVED TO 228600
Number Sign 236500 MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY; MARCH HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA
Number Sign 236600 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1; HYC1 HYDROCEPHALY;; VENTRICULOMEGALY
NULL 236635 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS AQUEDUCTAL STENOSIS
NULL 236640 HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS
NULL 236660 HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS
Number Sign 236670 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED;; HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA;; HARD SYNDROME;; CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME;; COD-MD SYNDROME
Number Sign 236680 HYDROLETHALUS SYNDROME 1; HLS1
NULL 236690 HYDROCEPHALUS, NORMAL-PRESSURE
Number Sign 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS HYDROMETROCOLPOS SYNDROME;; HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART MALFORMATION; HMCS;; KAUFMAN-MCKUSICK SYNDROME
Number Sign 236730 UROFACIAL SYNDROME 1; UFS1 UROFACIAL SYNDROME; UFS;; OCHOA SYNDROME;; HYDRONEPHROSIS WITH PECULIAR FACIAL EXPRESSION;; INVERTED SMILE AND OCCULT NEUROPATHIC BLADDER;; FACIAL PALSY, PARTIAL, WITH URINARY ABNORMALITIES
Number Sign 236750 HYDROPS FETALIS, NONIMMUNE; NIHF HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED, INCLUDED;; HEMOGLOBIN H HYDROPS FETALIS SYNDROME, INCLUDED
Number Sign 236792 L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA L-2-HYDROXYGLUTARIC ACIDEMIA
Percent 236795 3-HYDROXYISOBUTYRIC ACIDURIA
Number Sign 236800 HYDROXYKYNURENINURIA XANTHURENIC ACIDURIA;; KYNURENINASE DEFICIENCY, PARTIAL
Percent 236900 HYDROXYLYSINURIA
NULL 237000 HYDROXYPROLINEMIA 4-HYDROXY-L-PROLINE OXIDASE DEFICIENCY
NULL 237100 HYMEN, IMPERFORATE
Number Sign 237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY;; CPS I DEFICIENCY
Number Sign 237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY;; N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY;; NAGS DEFICIENCY
NULL 237400 HYPER-BETA-ALANINEMIA HYPERALANINEMIA
Number Sign 237450 HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR ROTOR SYNDROME
Number Sign 237500 DUBIN-JOHNSON SYNDROME; DJS HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE; HBLRDJ;; HYPERBILIRUBINEMIA II
NULL 237550 HYPERBILIRUBINEMIA, CONJUGATED, TYPE III
Percent 237800 HYPERBILIRUBINEMIA, SHUNT, PRIMARY; PSHB
Number Sign 237900 HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL; HBLRTFN LUCEY-DRISCOLL SYNDROME BREAST MILK JAUNDICE, INCLUDED
Caret 238200 MOVED TO 220100
Asterisk 238300 GLYCINE DECARBOXYLASE; GLDC GLYCINE CLEAVAGE SYSTEM P PROTEIN; GCSP;; GLYCINE DEHYDROGENASE
Asterisk 238310 AMINOMETHYLTRANSFERASE; AMT GLYCINE CLEAVAGE SYSTEM T PROTEIN; GCST
Number Sign 238320 LEYDIG CELL HYPOPLASIA, TYPE I LEYDIG CELL HYPOPLASIA WITH MALE PSEUDOHERMAPHRODITISM;; HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT;; LEYDIG CELL HYPOPLASIA, COMPLETE;; LEYDIG CELL AGENESIS LEYDIG CELL HYPOPLASIA, TYPE II, INCLUDED;; LEYDIG CELL HYPOPLASIA, PARTIAL, INCLUDED;; LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED
Asterisk 238330 GLYCINE CLEAVAGE SYSTEM H PROTEIN; GCSH
Asterisk 238331 DIHYDROLIPOAMIDE DEHYDROGENASE; DLD PYRUVATE DEHYDROGENASE COMPONENT E3; PHE3; E3;; BRANCHED CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX, E3 COMPONENT;; LIPOAMIDE REDUCTASE;; LIPOAMIDE DEHYDROGENASE; LAD; LADH;; LIPOYL DEHYDROGENASE;; DIHYDROLIPOYL DEHYDROGENASE;; DIAPHORASE;; GLYCINE CLEAVAGE SYSTEM L PROTEIN; GCSL
NULL 238340 HYPERLEUCINE-ISOLEUCINEMIA
NULL 238350 HYPERLEXIA COMPULSIVE READING;; PRECOCIOUS READING
Caret 238400 MOVED TO 144650
Caret 238500 MOVED TO 144650
Number Sign 238600 HYPERLIPOPROTEINEMIA, TYPE I LIPOPROTEIN LIPASE DEFICIENCY;; LPL DEFICIENCY;; HYPERCHYLOMICRONEMIA, FAMILIAL;; HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE;; HYPERLIPEMIA, ESSENTIAL FAMILIAL;; LIPASE D DEFICIENCY;; LIPD DEFICIENCY;; HYPERLIPOPROTEINEMIA, TYPE IA;; CHYLOMICRONEMIA, FAMILIAL
Number Sign 238700 HYPERLYSINEMIA, TYPE I LYSINE:ALPHA-KETOGLUTARATE REDUCTASE DEFICIENCY;; ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY;; LYSINE INTOLERANCE;; L-LYSINE:NAD-OXIDO-REDUCTASE DEFICIENCY
NULL 238710 HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA
NULL 238750 HYPERLYSINURIA WITH HYPERAMMONEMIA HYPERLYSINEMIA, PERIODIC
NULL 238800 HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA
NULL 238950 HYPEROPIA, HIGH
Number Sign 238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME HHH SYNDROME; HHHS; HHH;; ORNITHINE TRANSLOCASE DEFICIENCY
Number Sign 239000 PAGET DISEASE OF BONE 5, JUVENILE-ONSET; PDB5 JUVENILE PAGET DISEASE; JPD;; HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS;; HYPERPHOSPHATASIA, FAMILIAL IDIOPATHIC;; HYPERPHOSPHATASEMIA, CHRONIC CONGENITAL IDIOPATHIC;; OSTEOECTASIA, FAMILIAL
Number Sign 239100 VAN BUCHEM DISEASE; VBCH HYPEROSTOSIS CORTICALIS GENERALISATA;; HYPERPHOSPHATASEMIA TARDA;; ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL RECESSIVE
NULL 239199 HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA
Number Sign 239200 HYPERPARATHYROIDISM, NEONATAL SEVERE; NSHPT NSPH; NHPT;; HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
Number Sign 239300 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1 MABRY SYNDROME;; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2; GPIBD2
NULL 239350 HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES
Caret 239400 REMOVED FROM DATABASE
Number Sign 239500 HYPERPROLINEMIA, TYPE I; HYRPRO1 HPI;; PROLINE OXIDASE DEFICIENCY
Number Sign 239510 HYPERPROLINEMIA, TYPE II; HYRPRO2 HPII;; 1-PYRROLINE-5-CARBOXYLATE DEHYDROGENASE DEFICIENCY
NULL 239710 ACROFRONTOFACIONASAL DYSOSTOSIS 2 AFFN DYSOSTOSIS 2; AFFND2;; ACROFRONTOFACIONASAL DYSOSTOSIS WITH GENITOURINARY ANOMALIES;; NAGUIB-RICHIERI-COSTA SYNDROME;; HYPERTELORISM, HYPOSPADIAS, AND POLYSYNDACTYLY SYNDROME
NULL 239711 HYPERTELORISM AND TETRALOGY OF FALLOT
Percent 239800 HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME HMC SYNDROME
NULL 239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY AND MOTOR NEUROPATHY
Number Sign 239850 CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
NULL 239900 HYPERTROPHIC NEUROPATHY AND CATARACT
NULL 240000 HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE
Caret 240100 REMOVED FROM DATABASE
NULL 240150 HYPERVITAMINOSIS A, SUSCEPTIBILITY TO
Percent 240200 HYPOADRENOCORTICISM, FAMILIAL ADRENAL HYPOPLASIA;; ADRENAL APLASIA;; ADDISON DISEASE
Number Sign 240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 APS I;; AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY; APECED;; AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE I;; POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE I;; PGA I;; HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT, INCLUDED;; POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE, INCLUDED
NULL 240400 HYPOASCORBEMIA SCURVY;; VITAMIN C, INABILITY TO SYNTHESIZE L-GULONOLACTONE OXIDASE PSEUDOGENE, INCLUDED; GULOP, INCLUDED;; L-GULONOLACTONE OXIDASE, NONFUNCTIONAL, INCLUDED;; GULO, NONFUNCTIONAL, INCLUDED
Number Sign 240500 IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2 ANTIBODY DEFICIENCY DUE TO TACI DEFECT;; HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY
Number Sign 240600 GLYCOGEN STORAGE DISEASE 0, LIVER; GSD0A GSD 0a;; HYPOGLYCEMIA WITH DEFICIENCY OF GLYCOGEN SYNTHETASE IN THE LIVER;; LIVER GLYCOGEN SYNTHASE DEFICIENCY;; LIVER GLYCOGEN STORAGE DISEASE 0
Number Sign 240800 HYPOGLYCEMIA, LEUCINE-INDUCED; LIH LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY
Number Sign 240900 HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY; HIHGHH
NULL 240950 HYPOGONADISM-CATARACT SYNDROME CATARACTS AND TESTICULAR FAILURE
NULL 241000 HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY
Number Sign 241080 WOODHOUSE-SAKATI SYNDROME HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME;; EXTRAPYRAMIDAL DISORDER, PROGRESSIVE, WITH PRIMARY HYPOGONADISM, MENTAL RETARDATION, AND ALOPECIA
Percent 241090 HYPERGONADOTROPIC HYPOGONADISM AND PARTIAL ALOPECIA
NULL 241100 HYPOGONADISM, MALE HYPOGONADISM AND TESTICULAR ATROPHY, INCLUDED
NULL 241120 HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES SWEAT GLAND HYPOPLASIA
Percent 241150 HYPOKALEMIC ALKALOSIS, FAMILIAL, WITH SPECIFIC RENAL TUBULOPATHY HYPOKALEMIA, FAMILIAL;; GULLNER SYNDROME
Number Sign 241200 BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL;; HYPERPROSTAGLANDIN E SYNDROME 2
Percent 241310 HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS
Caret 241400 MOVED TO 146200
Number Sign 241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRDS HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND SEIZURES;; SANJAD-SAKATI SYNDROME;; HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTH RETARDATION, AND DEVELOPMENTAL DELAY
Number Sign 241500 HYPOPHOSPHATASIA, INFANTILE HOPS;; PHOSPHOETHANOLAMINURIA HYPOPHOSPHATASIA, PERINATAL LETHAL, INCLUDED
Number Sign 241510 HYPOPHOSPHATASIA, CHILDHOOD
NULL 241519 HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS
Number Sign 241520 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1 ARHR;; HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE; ARHP
Number Sign 241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH HYPERCALCIURIC RICKETS
NULL 241540 HYPOPITUITARISM, CONGENITAL, WITH CENTRAL DIABETES INSIPIDUS
Number Sign 241550 HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 HLHS
Number Sign 241600 IMMUNODEFICIENCY 43; IMD43 BETA-2-MICROGLOBULIN DEFICIENCY;; B2M DEFICIENCY;; HYPOPROTEINEMIA, HYPERCATABOLIC
Caret 241750 MOVED TO 146450
NULL 241760 HYPOSPADIAS-MENTAL RETARDATION SYNDROME
NULL 241800 HYPOTHALAMIC HAMARTOMAS CONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED; CHHS, INCLUDED
Number Sign 241850 HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE BAMFORTH-LAZARUS SYNDROME
Caret 241900 MOVED TO 203655
NULL 242050 HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY
Number Sign 242100 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2; ARCI2 COLLODION BABY, SELF-HEALING;; ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL, 1, FORMERLY; NCIE1, FORMERLY;; ICHTHYOSIFORM ERYTHRODERMA, BROCQ CONGENITAL, NONBULLOUS FORM, FORMERLY
NULL 242150 ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE;; KID SYNDROME, AUTOSOMAL RECESSIVE;; DESMONS SYNDROME
Caret 242170 MOVED TO 601675
Number Sign 242300 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION;; COLLODION BABY, SELF-HEALING; SHCB;; ICHTHYOSIS CONGENITA;; LAMELLAR EXFOLIATION OF NEWBORN;; DESQUAMATION OF NEWBORN;; COLLODION FETUS;; ICHTHYOSIS CONGENITA II; ICR2;; ICHTHYOSIS, LAMELLAR, 1, FORMERLY; LI1, FORMERLY
NULL 242400 ICHTHYOSIS CONGENITA WITH BILIARY ATRESIA
Number Sign 242500 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE;; HARLEQUIN ICHTHYOSIS; HI;; 'HARLEQUIN FETUS'
NULL 242510 ICHTHYOSIS WITH ALOPECIA, ECLABIUM, ECTROPION, AND MENTAL RETARDATION
NULL 242520 ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION
NULL 242530 ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT
NULL 242550 ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA
Number Sign 242600 IMINOGLYCINURIA
Caret 242650 MOVED TO 244400
Percent 242670 CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES
NULL 242680 CILIARY DYSKINESIA WITH EXCESSIVELY LONG CILIA IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA
Percent 242700 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS T-LYMPHOCYTE DEFICIENCY;; NEZELOF SYNDROME;; THYMIC APLASIA
Caret 242800 REMOVED FROM DATABASE
Number Sign 242840 VICI SYNDROME; VICIS IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
NULL 242850 IMMUNE DEFICIENCY DISEASE
Number Sign 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1; ICF1 IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16;; CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME; CIID;; IMMUNODEFICIENCY SYNDROME, VARIABLE
NULL 242870 IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTS AND BETA-2-MICROGLOBULIN FROM LYMPHOCYTES
NULL 242880 IMMUNOERYTHROMYELOID HYPOPLASIA
NULL 242890 IMMUNOGLOBULIN D LEVEL IN PLASMA, LOW
Number Sign 242900 SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SIOD IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE
Number Sign 243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED;; CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE;; ASYMBOLIA FOR PAIN NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED; HSAN2D, INCLUDED
NULL 243050 INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION
Number Sign 243060 SPERMATOGENIC FAILURE 5; SPGF5 MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA;; INFERTILITY ASSOCIATED WITH MULTITAILED SPERMATOZOA AND EXCESSIVE DNA
NULL 243080 INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO
Caret 243095 MOVED TO 270450
NULL 243100 INTERNAL CAROTID ARTERIES, HYPOPLASIA OF
NULL 243110 IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1 INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO
Number Sign 243150 GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME; GIDID INTESTINAL ATRESIA, MULTIPLE AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY;; INTESTINAL ATRESIA, MULTIPLE; MINAT;; FAMILIAL INTESTINAL POLYATRESIA SYNDROME; FIPA
Percent 243180 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DISEASE;; ARGYROPHIL MYENTERIC PLEXUS, DEFICIENCY OF;; PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, NEURONAL TYPE NEURONAL INTESTINAL DYSPLASIA, TYPE A, INCLUDED;; NID A, INCLUDED
NULL 243185 INTESTINAL PSEUDOOBSTRUCTION WITH PATENT DUCTUS ARTERIOSUS AND NATAL TEETH
NULL 243200 INTRACRANIAL HYPERTENSION, IDIOPATHIC PSEUDOTUMOR CEREBRI
Number Sign 243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 SUMMERSKILL SYNDROME
Asterisk 243305 INVERSIN; INVS INVERSION OF EMBRYONIC TURNING; INV;; NEPHROCYSTIN 2; NPHP2
Number Sign 243310 BARAITSER-WINTER SYNDROME 1; BRWS1 IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION;; FRYNS-AFTIMOS SYNDROME;; PACHYGYRIA, MENTAL RETARDATION, EPILEPSY, AND CHARACTERISTIC FACIES;; CEREBROOCULOFACIAL LYMPHATIC SYNDROME; COFLS;; MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES;; CEREBROFRONTOFACIAL SYNDROME;; CHROMOSOME 7p22 DELETION SYNDROME
NULL 243320 INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF
Caret 243340 MOVED TO 242860
Number Sign 243400 ACETYLATION, SLOW SLOW ACETYLATOR PHENOTYPE;; ISONIAZID INACTIVATION, SLOW;; INH INACTIVATION, SLOW ACETYLATION, FAST, INCLUDED;; FAST ACETYLATOR PHENOTYPE, INCLUDED;; INH INACTIVATION, FAST, INCLUDED
NULL 243440 ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME MICROTIA-AORTIC ARCH SYNDROME
NULL 243450 ISOVALERIC ACID, INABILITY TO SMELL
Number Sign 243500 ISOVALERIC ACIDEMIA; IVA ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY;; IVD DEFICIENCY
Percent 243600 JEJUNAL ATRESIA APPLE PEEL SYNDROME;; APPLE PEEL SMALL BOWEL SYNDROME; APSB
Number Sign 243605 STROMME SYNDROME; STROMS JEJUNAL ATRESIA WITH MICROCEPHALY AND OCULAR ANOMALIES;; APPLE PEEL SYNDROME WITH MICROCEPHALY AND OCULAR ANOMALIES;; CILIARY DYSKINESIA, PRIMARY, 31, FORMERLY; CILD31, FORMERLY
Number Sign 243700 HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE HYPER-IgE SYNDROME, AUTOSOMAL RECESSIVE;; HIES, AUTOSOMAL RECESSIVE
Number Sign 243800 JOHANSON-BLIZZARD SYNDROME; JBS NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND CONGENITAL DEAFNESS
Percent 243910 ARIMA SYNDROME DEKABAN-ARIMA SYNDROME;; JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA;; COLOBOMA, CHORIORETINAL, WITH CEREBELLAR VERMIS APLASIA;; CEREBROOCULOHEPATORENAL SYNDROME
NULL 244100 JUMPING FRENCHMEN OF MAINE
Number Sign 244200 HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3
Percent 244300 KAPUR-TORIELLO SYNDROME LONG COLUMELLA WITH CLEFT LIP/PALATE AND EYE, HEART, AND INTESTINAL ANOMALIES
Number Sign 244400 CILIARY DYSKINESIA, PRIMARY, 1; CILD1 PCD;; CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS;; IMMOTILE CILIA SYNDROME; ICS;; POLYNESIAN BRONCHIECTASIS KARTAGENER SYNDROME, INCLUDED;; DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS, INCLUDED;; SIEWERT SYNDROME, INCLUDED
Number Sign 244450 KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME; BPIDS
Number Sign 244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS1 KCS;; KENNY-CAFFEY SYNDROME, AUTOSOMAL RECESSIVE
Caret 244500 MOVED TO 148300
NULL 244510 KERATOCONUS AND CONGENITAL HIP DYSPLASIA
NULL 244600 KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC KPC WITH ASSOCIATED MALFORMATIONS, INCLUDED
NULL 244850 PALMOPLANTAR KERATODERMA, NORRBOTTEN RECESSIVE TYPE; PPKNR
Number Sign 245000 PAPILLON-LEFEVRE SYNDROME; PALS PLS;; KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA
Number Sign 245010 HAIM-MUNK SYNDROME; HMS KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS;; COCHIN JEWISH DISORDER
Number Sign 245050 SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY; SCOTD SCOT DEFICIENCY;; SUCCINYL-CoA:3-KETOACID CoA-TRANSFERASE DEFICIENCY;; SUCCINYL-CoA:ACETOACETATE TRANSFERASE DEFICIENCY;; KETOACIDOSIS DUE TO SCOT DEFICIENCY
Percent 245100 RICHARDS-RUNDLE SYNDROME; RRNS ATAXIA-DEAFNESS-MENTAL RETARDATION SYNDROME
NULL 245130 KETOADIPICACIDURIA
Number Sign 245150 KEUTEL SYNDROME; KTLS PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES
NULL 245160 KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS BURTON SYNDROME
NULL 245180 KIFAFA SEIZURE DISORDER
NULL 245190 KNIEST-LIKE DYSPLASIA, LETHAL
Number Sign 245200 KRABBE DISEASE GLOBOID CELL LEUKODYSTROPHY; GLD; GCL;; GLOBOID CELL LEUKOENCEPHALOPATHY;; GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY;; GALACTOCEREBROSIDASE DEFICIENCY;; GALC DEFICIENCY
Caret 245210 MOVED TO 192430 AND 188400
Number Sign 245300 KURU, SUSCEPTIBILITY TO
Number Sign 245340 ERYTHROCYTE LACTATE TRANSPORTER DEFECT LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO
Number Sign 245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX
Number Sign 245349 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY; PDHXD LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX
Number Sign 245400 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9 LACTIC ACIDOSIS, FATAL INFANTILE, FORMERLY
NULL 245450 LACTIC ACIDURIA DUE TO D-LACTIC ACID
Number Sign 245480 SPECIFIC GRANULE DEFICIENCY 1; SGD1 LACTOFERRIN-DEFICIENT NEUTROPHILS;; NEUTROPHIL LACTOFERRIN DEFICIENCY
Caret 245500 REMOVED FROM DATABASE
NULL 245550 LAMBERT SYNDROME BRANCHIAL DYSPLASIA, CLUBFOOT, INGUINAL HERNIA, AND BILIARY ATRESIA
NULL 245552 LAMBOTTE SYNDROME MICROCEPHALY, HOLOPROSENCEPHALY, AND INTRAUTERINE GROWTH RETARDATION
Number Sign 245570 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD APHASIA, ACQUIRED, WITH EPILEPSY LANDAU-KLEFFNER SYNDROME, INCLUDED; LKS, INCLUDED;; CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME, INCLUDED; CSWS, INCLUDED; CSWSS, INCLUDED;; ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL DOMINANT, INCLUDED; RESDAD, INCLUDED; ADRESD, INCLUDED;; BENIGN EPILEPSY OF CHILDHOOD WITH CENTROTEMPORAL SPIKES, INCLUDED; BECTS, INCLUDED
Number Sign 245590 GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY LARON SYNDROME DUE TO POSTRECEPTOR DEFECT;; GROWTH HORMONE INSENSITIVITY DUE TO POSTRECEPTOR DEFECT
Number Sign 245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; JDSCD LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
NULL 245650 LARSEN-LIKE SYNDROME, LETHAL TYPE
Number Sign 245660 LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS LOGIC SYNDROME
Number Sign 245800 LAURENCE-MOON SYNDROME; LNMS
Number Sign 245900 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY LCAT DEFICIENCY;; NORUM DISEASE
Percent 246000 LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT
Number Sign 246200 DONOHUE SYNDROME LEPRECHAUNISM INSULIN RECEPTOR, DEFECT IN, INCLUDED
Number Sign 246300 LEPROSY, SUSCEPTIBILITY TO, 3; LPRS3
Percent 246400 LETTERER-SIWE DISEASE L-S DISEASE; LESD;; HISTIOCYTOSIS X, ACUTE DISSEMINATED
Number Sign 246450 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD HMG-CoA LYASE DEFICIENCY;; HMGCL DEFICIENCY;; HL DEFICIENCY;; HYDROXYMETHYLGLUTARIC ACIDURIA
NULL 246470 LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER
Caret 246490 MOVED TO 266265
NULL 246500 LEUKOMELANODERMA, INFANTILISM, MENTAL RETARDATION, HYPODONTIA, HYPOTRICHOSIS
Asterisk 246530 LEUKOTRIENE C4 SYNTHASE; LTC4S
NULL 246550 LICHTENSTEIN SYNDROME
NULL 246555 LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY
Number Sign 246560 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3 SHSF3;; LIMB DEFICIENCIES, DISTAL, WITH MICROGNATHIA;; CHROMOSOME 10q24 DUPLICATION SYNDROME
NULL 246570 FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME FATCO SYNDROME
Asterisk 246600 PANCREATIC LIPASE; PNLIP PL;; LIPASE, PANCREATIC
Number Sign 246650 LIPASE DEFICIENCY, COMBINED LIPOPROTEIN LIPASE DEFICIENCY WITH HEPATIC TRIGLYCERIDE LIPASE DEFICIENCY;; LPL AND HTGL DEFICIENCY;; LPL AND HL DEFICIENCY
Number Sign 246700 CHYLOMICRON RETENTION DISEASE; CMRD ANDERSON DISEASE; ANDD;; LIPID TRANSPORT DEFECT OF INTESTINE;; HYPOBETALIPOPROTEINEMIA WITH ACCUMULATION OF APOLIPOPROTEIN B-LIKE PROTEIN IN INTESTINAL CELLS
Caret 246800 MOVED TO 257220
Number Sign 246900 DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD DLD DEFICIENCY;; E3 DEFICIENCY;; LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO;; MAPLE SYRUP URINE DISEASE, TYPE III
Number Sign 247100 LIPOID PROTEINOSIS OF URBACH AND WIETHE LIPOID PROTEINOSIS;; URBACH-WIETHE DISEASE;; HYALINOSIS CUTIS ET MUCOSAE
NULL 247150 LIP PRINTS
Number Sign 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS MDS CHROMOSOME 17p13.3 DELETION SYNDROME, INCLUDED;; MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED
Caret 247400 MOVED TO 210710
NULL 247410 LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME HYPOPARATHYROIDISM-LYMPHEDEMA SYNDROME
Number Sign 247420 LUTHERAN NULL RECESSIVE LU (a-b-) PHENOTYPE
NULL 247430 LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF
NULL 247440 LYMPHEDEMA, CONGENITAL RECESSIVE
NULL 247450 LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN
NULL 247610 LYMPHOID INTERSTITIAL PNEUMONIA; LIP
NULL 247630 LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE
NULL 247640 LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL LYMPHOMATOUS ALL
NULL 247650 LYMPHOKINE DEFICIENCY
Percent 247800 LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS
Caret 247900 MOVED TO 238700
NULL 247950 LYSINE MALABSORPTION SYNDROME
Asterisk 247980 LIPASE B, LYSOSOMAL ACID; LIPB LYSOSOMAL ACID LIPASE-B
NULL 247990 MACDERMOT-WINTER SYNDROME
Number Sign 248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH
NULL 248010 MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGED APPEARANCE
NULL 248100 MACROSOMIA ADIPOSA CONGENITA
NULL 248110 MACROSOMIA WITH MICROPHTHALMIA, LETHAL
Number Sign 248190 HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT; HOMG5 HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT;; HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA, NEPHROCALCINOSIS, AND SEVERE OCULAR INVOLVEMENT;; FHHNC WITH SEVERE OCULAR INVOLVEMENT;; MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA
Number Sign 248200 STARGARDT DISEASE 1; STGD1 STGD;; MACULAR DEGENERATION, JUVENILE;; MACULAR DYSTROPHY WITH FLECKS, TYPE 1 FUNDUS FLAVIMACULATUS, INCLUDED; FFM, INCLUDED;; RETINAL DYSTROPHY, EARLY-ONSET SEVERE, INCLUDED
Number Sign 248250 HYPOMAGNESEMIA 3, RENAL; HOMG3 HYPOMAGNESEMIA, PRIMARY, DUE TO DEFECT IN RENAL TUBULAR TRANSPORT OF MAGNESIUM;; HYPOMAGNESEMIA, ISOLATED RENAL;; HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING, INCLUDED
NULL 248260 MAGNESIUM, ELEVATED RED CELL
Number Sign 248300 MAL DE MELEDA; MDM MELEDA DISEASE;; KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS
Percent 248310 PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL PFBI;; PLASMODIUM FALCIPARUM PARASITEMIA
Number Sign 248340 3MC SYNDROME 3; 3MC3 FACIAL CLEFTING SYNDROME, GYPSY TYPE;; MALPUECH FACIAL CLEFTING SYNDROME, FORMERLY
NULL 248350 MALOCCLUSION AND SHORT STATURE
Number Sign 248360 MALONYL-CoA DECARBOXYLASE DEFICIENCY
Number Sign 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA;; CRANIOMANDIBULAR DERMATODYSOSTOSIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED
Number Sign 248390 TREACHER COLLINS SYNDROME 3; TCS3 MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE
NULL 248400 MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION
Number Sign 248450 MANITOBA OCULOTRICHOANAL SYNDROME; MOTA MARLES SYNDROME
Number Sign 248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA ALPHA-MANNOSIDOSIS;; LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY;; ALPHA-MANNOSIDASE B DEFICIENCY
Number Sign 248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB BETA-MANNOSIDOSIS;; LYSOSOMAL BETA-MANNOSIDASE DEFICIENCY;; BETA-MANNOSIDASE DEFICIENCY
Number Sign 248600 MAPLE SYRUP URINE DISEASE; MSUD BRANCHED-CHAIN KETOACIDURIA;; BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY;; BCKD DEFICIENCY;; KETO ACID DECARBOXYLASE DEFICIENCY MAPLE SYRUP URINE DISEASE, CLASSIC, INCLUDED;; MAPLE SYRUP URINE DISEASE, INTERMEDIATE, INCLUDED;; MAPLE SYRUP URINE DISEASE, INTERMITTENT, INCLUDED;; MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, INCLUDED;; MAPLE SYRUP URINE DISEASE, TYPE IA, INCLUDED; MSUD1A, INCLUDED;; MAPLE SYRUP URINE DISEASE, TYPE IB, INCLUDED; MSUD1B, INCLUDED;; MAPLE SYRUP URINE DISEASE, TYPE II, INCLUDED; MSUD2, INCLUDED
Asterisk 248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT BRANCHED-CHAIN ACYLTRANSFERASE, E2 COMPONENT; BCATE2;; BRANCHED-CHAIN KETO ACID DEHYDROGENASE COMPLEX, E2 COMPONENT
Asterisk 248611 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB E1B
Number Sign 248700 MARDEN-WALKER SYNDROME; MWKS MWS
Caret 248750 MOVED TO 154700
NULL 248760 MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS
NULL 248770 MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL
Number Sign 248800 MARINESCO-SJOGREN SYNDROME; MSS
Caret 248810 MOVED TO 248800
Number Sign 248900 MAST SYNDROME SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21
NULL 248910 CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA
NULL 248950 MCDONOUGH SYNDROME
Number Sign 249000 MECKEL SYNDROME, TYPE 1; MKS1 MECKEL-GRUBER SYNDROME, TYPE 1;; MECKEL SYNDROME; MKS;; MES;; DYSENCEPHALIA SPLANCHNOCYSTICA;; GRUBER SYNDROME;; MECKEL-GRUBER SYNDROME
Number Sign 249100 FAMILIAL MEDITERRANEAN FEVER; FMF FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE;; POLYSEROSITIS, RECURRENT;; POLYSEROSITIS, FAMILIAL PAROXYSMAL
Caret 249210 MOVED TO 155310
NULL 249230 MEGAEPIPHYSEAL DWARFISM
NULL 249240 MEGALENCEPHALY WITH DYSMYELINATION MEGALENCEPHALY WITH DIFFUSE WHITE MATTER HYPODENSITY
Number Sign 249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE); THMD1;; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS;; ROGERS SYNDROME;; THIAMINE-RESPONSIVE ANEMIA SYNDROME;; THIAMINE-RESPONSIVE MYELODYSPLASIA
NULL 249300 MEGALOCORNEA
Percent 249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME MMR SYNDROME;; NEUHAUSER SYNDROME
Number Sign 249400 MELANOSIS, NEUROCUTANEOUS; NCMS NEUROMELANOSIS
Number Sign 249420 FRANK-TER HAAR SYNDROME; FTHS TER HAAR SYNDROME;; BORRONE DERMATOCARDIOSKELETAL SYNDROME;; MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
Number Sign 249500 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1
NULL 249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE
NULL 249600 MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE MIETENS-WEBER SYNDROME
Percent 249620 OHDO SYNDROME OHDO BLEPHAROPHIMOSIS SYNDROME;; MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETH
NULL 249630 MENTAL RETARDATION, BUENOS AIRES TYPE MUTCHINICK SYNDROME
Percent 249650 MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU DISULFIDURIA, MIXED
NULL 249660 MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES
NULL 249670 MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION MEXICAN CARDIOMELIC DYSPLASIA
Number Sign 249700 LANGER MESOMELIC DYSPLASIA; LMD DYSCHONDROSTEOSIS, HOMOZYGOUS;; MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE TYPE
NULL 249710 MESOMELIC LIMB SHORTENING AND BOWING
Caret 249800 REMOVED FROM DATABASE
Number Sign 249900 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATOR DEFICIENCY;; SAPOSIN B DEFICIENCY
Number Sign 250100 METACHROMATIC LEUKODYSTROPHY; MLD METACHROMATIC LEUKOENCEPHALOPATHY;; CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM;; SULFATIDE LIPIDOSIS;; ARYLSULFATASE A DEFICIENCY;; ARSA DEFICIENCY;; CEREBROSIDE SULFATASE DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED;; METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE, INCLUDED;; METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED;; METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED
Percent 250215 METAPHYSEAL ACROSCYPHODYSPLASIA WEDGE-SHAPED EPIPHYSES OF KNEES;; CUPPED METAPHYSES AND CONE-SHAPED EPIPHYSES OF KNEES WITH BRACHYDACTYLY
Number Sign 250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS SEDAGHATIAN CHONDRODYSPLASIA;; METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL
NULL 250230 METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE
Number Sign 250250 CARTILAGE-HAIR HYPOPLASIA; CHH METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE
NULL 250300 METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE
Number Sign 250400 METAPHYSEAL DYSPLASIA, SPAHR TYPE; MDST METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE
Number Sign 250410 RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA
NULL 250420 METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS
NULL 250450 METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY
Number Sign 250460 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY;; CARTILAGE-HAIR HYPOPLASIA VARIANT, SKELETAL MANIFESTATIONS ONLY; CHHV
NULL 250500 METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA
Caret 250600 MOVED TO 156530
Number Sign 250620 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCY;; HIBCH DEFICIENCY;; METHACRYLIC ACIDURIA;; METHACRYLIC ACID TOXICITY;; VALINE METABOLIC DEFECT
NULL 250650 METHANE PRODUCTION
NULL 250700 METHEMOGLOBIN REDUCTASE DEFICIENCY NADPH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY;; TPNH-METHEMOGLOBIN REDUCTASE DEFICIENCY
Number Sign 250790 METHEMOGLOBINEMIA TYPE IV METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
Number Sign 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY;; NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY;; METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE METHEMOGLOBINEMIA, TYPE I, INCLUDED;; METHEMOGLOBINEMIA, TYPE II, INCLUDED;; NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE I, INCLUDED;; NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE II, INCLUDED
Number Sign 250850 METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY MAT DEFICIENCY;; MAT I/III DEFICIENCY;; HYPERMETHIONINEMIA, ISOLATED PERSISTENT
Percent 250900 METHIONINE MALABSORPTION SYNDROME SMITH-STRANG DISEASE;; OASTHOUSE URINE DISEASE
Number Sign 250940 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE;; METHYLCOBALAMIN DEFICIENCY, cblG TYPE;; METHIONINE SYNTHASE DEFICIENCY
Number Sign 250950 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 MGA, TYPE I; MGA1;; 3-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY;; 3-MG-CoA-HYDRATASE DEFICIENCY
NULL 250951 3-METHYLGLUTACONIC ACIDURIA, TYPE IV; MGCA4 MGA, TYPE IV; MGA4
Number Sign 251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY MMA DUE TO MCM DEFICIENCY;; METHYLMALONIC ACIDURIA, mut TYPE METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED;; METHYLMALONIC ACIDURIA, mut(-) TYPE, INCLUDED
Number Sign 251100 METHYLMALONIC ACIDURIA, cblA TYPE METHYLMALONIC ACIDEMIA, cblA TYPE;; METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE
Number Sign 251110 METHYLMALONIC ACIDURIA, cblB TYPE METHYLMALONIC ACIDEMIA, cblB TYPE;; METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE
Number Sign 251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY METHYLMALONYL-CoA RACEMASE DEFICIENCY;; METHYLMALONIC ACIDURIA III, FORMERLY METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY, INCLUDED
Asterisk 251170 MEVALONATE KINASE; MVK
NULL 251190 MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE
Number Sign 251200 MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION;; PREMATURE CHROMOSOME CONDENSATION SYNDROME;; PCC SYNDROME
NULL 251220 MICROCEPHALY-CARDIOMYOPATHY
Number Sign 251230 MICROCEPHALY-MICROMELIA SYNDROME; MIMIS
NULL 251240 MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA
NULL 251250 MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES
Number Sign 251255 JAWAD SYNDROME; JWDS KELLY SYNDROME;; MICROCEPHALY WITH MENTAL RETARDATION AND DIGITAL ANOMALIES
Number Sign 251260 NIJMEGEN BREAKAGE SYNDROME; NBS ATAXIA-TELANGIECTASIA VARIANT V1; AT-V1;; MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES;; SEEMANOVA SYNDROME II;; NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE;; IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY BERLIN BREAKAGE SYNDROME, INCLUDED; BBS, INCLUDED;; ATAXIA-TELANGIECTASIA VARIANT V2, INCLUDED; AT-V2, INCLUDED
Number Sign 251270 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1; MCCRP1
Number Sign 251280 MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS; MISSBC
Number Sign 251290 PSEUDO-TORCH SYNDROME 1; PTORCH1 PSEUDO-TORCH SYNDROME; BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA; BLCPMG
Number Sign 251300 GALLOWAY-MOWAT SYNDROME 1; GAMOS1 MICROCEPHALY, HIATAL HERNIA, AND NEPHROTIC SYNDROME;; GALLOWAY SYNDROME;; NEPHROSIS-NEURONAL DYSMIGRATION SYNDROME;; NEPHROSIS-MICROCEPHALY SYNDROME;; CEREBELLAR ATAXIA WITH MENTAL RETARDATION, OPTIC ATROPHY, AND SKIN ABNORMALITIES; CAMOS;; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5, FORMERLY; SCAR5, FORMERLY
NULL 251400 MICROCOLON
Number Sign 251450 DESBUQUOIS DYSPLASIA 1; DBQD1 DESBUQUOIS SYNDROME;; MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION DESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED
Caret 251455 MOVED TO 258315
Caret 251500 MOVED TO 600118
NULL 251505 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4; MCOPCB4 MICROPHTHALMIA WITH COLOBOMATOUS CYST
Percent 251600 MICROPHTHALMIA, ISOLATED 1; MCOP1 MCOP;; ANOPHTHALMIA, CLINICAL, ISOLATED;; MICROPHTHALMOS, AUTOSOMAL RECESSIVE
NULL 251700 MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA, AND DENTAL ANOMALIES
Number Sign 251750 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA; MSPKA
Percent 251800 MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS
Number Sign 251850 DIARRHEA 2, WITH MICROVILLUS ATROPHY; DIAR2 MICROVILLUS INCLUSION DISEASE; MVID;; MICROVILLUS ATROPHY, CONGENITAL;; DAVIDSON DISEASE;; CONGENITAL FAMILIAL PROTRACTED DIARRHEA WITH ENTEROCYTE BRUSH-BORDER ABNORMALITIES;; INTRACTABLE DIARRHEA OF INFANCY
Number Sign 251880 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3
Caret 251890 MOVED TO 143450
NULL 251900 MITOCHONDRIAL MYOPATHY
NULL 251945 MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT
Number Sign 251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS; MMLA
Number Sign 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY NADH:Q(1) OXIDOREDUCTASE DEFICIENCY;; NADH-COENZYME Q REDUCTASE DEFICIENCY;; MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF
Number Sign 252011 MITOCHONDRIAL COMPLEX II DEFICIENCY SUCCINATE CoQ REDUCTASE DEFICIENCY
Caret 252030 REMOVED FROM DATABASE
Percent 252100 MOHR SYNDROME OROFACIODIGITAL SYNDROME II; OFD2;; OFDS II;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE II
Number Sign 252150 MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF
Number Sign 252160 MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB
Caret 252200 MOVED TO 158000 AND 607903
NULL 252250 MONOCYTE CHEMOTACTIC DISORDER
Number Sign 252270 MONOSOMY 7 OF BONE MARROW MYELODYSPLASIA AND LEUKEMIA SYNDROME WITH MONOSOMY 7; MLSM7;; CHROMOSOME 7q DELETION
NULL 252300 MORQUIO SYNDROME C MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE
NULL 252320 MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA
Percent 252350 MOYAMOYA DISEASE 1; MYMY1 MOYAMOYA DISEASE; MYMY;; SPONTANEOUS OCCLUSION OF THE CIRCLE OF WILLIS
Number Sign 252500 MUCOLIPIDOSIS II ALPHA/BETA MUCOLIPIDOSIS II; ML II;; ML II ALPHA/BETA;; I-CELL DISEASE; ICD
Number Sign 252600 MUCOLIPIDOSIS III ALPHA/BETA ML III ALPHA/BETA;; MUCOLIPIDOSIS IIIA; ML IIIA;; MUCOLIPIDOSIS III;; ML III;; PSEUDO-HURLER POLYDYSTROPHY MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED
Number Sign 252605 MUCOLIPIDOSIS III GAMMA ML III GAMMA;; MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C;; MUCOLIPIDOSIS IIIC;; ML IIIC;; MUCOLIPIDOSIS III, IRANIAN VARIANT FORM;; MUCOLIPIDOSIS III, VARIANT FORM
Number Sign 252650 MUCOLIPIDOSIS IV; ML4 ML IV;; SIALOLIPIDOSIS
Number Sign 252700 MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES
Asterisk 252800 ALPHA-L-IDURONIDASE; IDUA IDURONIDASE, ALPHA-L
Number Sign 252900 MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A MPS IIIA;; SANFILIPPO SYNDROME A;; HEPARAN SULFATE SULFATASE DEFICIENCY;; SULFAMIDASE DEFICIENCY
Number Sign 252920 MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B MPS IIIB;; SANFILIPPO SYNDROME B;; N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY;; NAGLU DEFICIENCY
Number Sign 252930 MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C MPS IIIC;; SANFILIPPO SYNDROME C;; ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
Number Sign 252940 MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D MPS IIID;; SANFILIPPO SYNDROME D;; N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY
Number Sign 253000 MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A MORQUIO SYNDROME A;; MPS IVA;; MORQUIO A DISEASE;; GALACTOSAMINE-6-SULFATASE DEFICIENCY;; GALNS DEFICIENCY
Number Sign 253010 MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B MORQUIO SYNDROME B;; MPS IVB
Number Sign 253200 MUCOPOLYSACCHARIDOSIS TYPE VI; MPS6 MPS VI;; MAROTEAUX-LAMY SYNDROME;; ARYLSULFATASE B DEFICIENCY;; ARSB DEFICIENCY;; N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY
Number Sign 253220 MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 MPS VII;; SLY SYNDROME;; BETA-GLUCURONIDASE DEFICIENCY;; GUSB DEFICIENCY
Caret 253230 MOVED TO 601492
Percent 253240 MUCUS INSPISSATION OF RESPIRATORY TRACT
Number Sign 253250 MULIBREY NANISM MUSCLE-LIVER-BRAIN-EYE NANISM;; PERICARDIAL CONSTRICTION AND GROWTH FAILURE;; PERHEENTUPA SYNDROME
Number Sign 253260 BIOTINIDASE DEFICIENCY BTD DEFICIENCY;; MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET;; MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET
Number Sign 253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS DEFICIENCY;; MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL FORM;; MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET
Number Sign 253280 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
Number Sign 253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
Number Sign 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 SMA I;; SMA, INFANTILE ACUTE FORM;; MUSCULAR ATROPHY, INFANTILE;; WERDNIG-HOFFMANN DISEASE
Number Sign 253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1 LCCS;; MULTIPLE CONTRACTURE SYNDROME, FINNISH TYPE
NULL 253320 MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM CHUDLEY SYNDROME
Number Sign 253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3 SMA III;; MUSCULAR ATROPHY, JUVENILE;; KUGELBERG-WELANDER SYNDROME; KWS;; SPINAL MUSCULAR ATROPHY, MILD CHILDHOOD AND ADOLESCENT FORM
Caret 253500 REMOVED FROM DATABASE
Number Sign 253550 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 SMA II;; MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE;; MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM
NULL 253590 MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY
Number Sign 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2; LGMD2;; MUSCULAR DYSTROPHY, PELVOFEMORAL;; LEYDEN-MOEBIUS MUSCULAR DYSTROPHY;; CALPAINOPATHY MYOSITIS, EOSINOPHILIC, INCLUDED
Number Sign 253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 3; LGMD3
Number Sign 253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C MUSCULAR DYSTROPHY, DUCHENNE-LIKE;; DUCHENNE-LIKE MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, TYPE 1; DMDA1;; DMDA;; ADHALIN DEFICIENCY, SECONDARY;; SARCOGLYCAN, GAMMA, DEFICIENCY OF;; SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, NORTH AFRICAN TYPE; SCARMD;; MAGHREBIAN MYOPATHY
Number Sign 253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD;; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
Caret 253850 MOVED TO 602771
Percent 253900 MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS
NULL 254000 MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM
Number Sign 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD;; MUSCULAR DYSTROPHY, SCLEROATONIC;; ULLRICH DISEASE;; ULLRICH SCLEROATONIC MUSCULAR DYSTROPHY
NULL 254100 MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION
Number Sign 254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H MUSCULAR DYSTROPHY, HUTTERITE TYPE;; SARCOTUBULAR MYOPATHY
NULL 254120 MUSCULAR HYPERTONIA, LETHAL
Number Sign 254130 MIYOSHI MUSCULAR DYSTROPHY 1; MMD1 MIYOSHI MYOPATHY;; MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL RECESSIVE
Percent 254150 MUSK, INABILITY TO SMELL
NULL 254190 MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS
Caret 254195 MOVED TO 608931
NULL 254200 MYASTHENIA GRAVIS; MG
Number Sign 254210 MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA; CMSEA;; CONGENITAL MYASTHENIC SYNDROME TYPE Ia2, FORMERLY; CMS1A2, FORMERLY;; CMS Ia2, FORMERLY;; MYASTHENIA, FAMILIAL INFANTILE, FORMERLY; FIM, FORMERLY;; MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2, FORMERLY; FIMG2, FORMERLY
Number Sign 254300 MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10 MYASTHENIA, LIMB-GIRDLE, FAMILIAL, FORMERLY; LGM, FORMERLY;; CONGENITAL MYASTHENIC SYNDROME TYPE Ib, FORMERLY; CMS1B, FORMERLY;; CMS Ib, FORMERLY;; MYASTHENIC MYOPATHY, FORMERLY
NULL 254400 MYCOSIS FUNGOIDES
Number Sign 254450 MYELOFIBROSIS MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED; MMM, INCLUDED
Number Sign 254500 MYELOMA, MULTIPLE AMYLOIDOSIS, SYSTEMIC, INCLUDED; AL, INCLUDED;; AL AMYLOIDOSIS, INCLUDED
Number Sign 254600 MYELOPEROXIDASE DEFICIENCY; MPOD MPO DEFICIENCY
NULL 254700 MYELOPROLIFERATIVE DISEASE, AUTOSOMAL RECESSIVE
Number Sign 254770 EPILEPSY, MYOCLONIC JUVENILE; EJM MYOCLONIC EPILEPSY, JUVENILE; JME;; PETIT MAL, IMPULSIVE;; JANZ SYNDROME MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1, INCLUDED; EJM1, INCLUDED
Number Sign 254780 MYOCLONIC EPILEPSY OF LAFORA MELF;; LAFORA DISEASE;; LAFORA BODY DISEASE; LBD;; EPILEPSY, PROGRESSIVE MYOCLONIC, 2A; EPM2A;; EPM2 EPILEPSY, PROGRESSIVE MYOCLONIC, 2B, INCLUDED; EPM2B, INCLUDED
Number Sign 254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG ULD;; EPILEPSY, PROGRESSIVE MYOCLONIC, 1A; EPM1A;; EPILEPSY, PROGRESSIVE MYOCLONIC, 1; EPM1;; PROGRESSIVE MYOCLONIC EPILEPSY; PME;; BALTIC MYOCLONIC EPILEPSY
Number Sign 254900 EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4 ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF;; MYOCLONUS-NEPHROPATHY SYNDROME
Number Sign 254940 CAREY-FINEMAN-ZITER SYNDROME; CFZS MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE
NULL 254950 MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA
NULL 254960 MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT
Number Sign 255100 LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD
Number Sign 255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC;; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET;; CPT II DEFICIENCY, MYOPATHIC;; CPT2 DEFICIENCY, LATE-ONSET
Number Sign 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY;; CPT I DEFICIENCY;; CPT DEFICIENCY, HEPATIC, TYPE I
Number Sign 255125 MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE;; MYOPATHY WITH DEFICIENCY OF SUCCINATE DEHYDROGENASE AND ACONITASE;; MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS
NULL 255140 MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA
Number Sign 255160 MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE
Caret 255170 MOVED TO 603280
Number Sign 255200 MYOPATHY, CENTRONUCLEAR, 2; CNM2 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE;; MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE
Percent 255300 MYOPATHY, CONGENITAL BATTEN-TURNER CONGENITAL MYOPATHY
Number Sign 255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL; CFTDM
Number Sign 255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA MINICORE MYOPATHY;; MULTICORE MYOPATHY;; MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA;; MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA
Percent 255500 MYOPIA 18, AUTOSOMAL RECESSIVE; MYP18
Number Sign 255600 MYOSCLEROSIS, AUTOSOMAL RECESSIVE MYOPATHY, MYOSCLEROTIC;; MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL
Number Sign 255700 MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE BECKER DISEASE;; MYOTONIA, GENERALIZED
NULL 255710 MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION
Number Sign 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 SCHWARTZ-JAMPEL SYNDROME; SJS;; MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES;; SCHWARTZ-JAMPEL-ABERFELD SYNDROME;; SJA SYNDROME;; CHONDRODYSTROPHIC MYOTONIA
NULL 255900 MYXEDEMA
Number Sign 255960 MYXOMA, INTRACARDIAC ATRIAL MYXOMA, FAMILIAL
Percent 255980 NASODIGITOACOUSTIC SYNDROME KEIPERT SYNDROME
NULL 255990 NATHALIE SYNDROME
Number Sign 255995 NATIVE AMERICAN MYOPATHY; NAM MYOPATHY, CONGENITAL, WITH CLEFT PALATE AND MALIGNANT HYPERTHERMIA
Number Sign 256000 LEIGH SYNDROME; LS NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH; SNE LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED;; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY, INCLUDED;; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY, INCLUDED;; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, INCLUDED;; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY, INCLUDED
NULL 256020 NAIL-PATELLA-LIKE RENAL DISEASE GLOMERULAR BASEMENT MEMBRANE DISEASE, NAIL-PATELLA SYNDROME TYPE
Number Sign 256030 NEMALINE MYOPATHY 2; NEM2
Number Sign 256040 AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD NAKAJO-NISHIMURA SYNDROME; NKJO;; JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY; JMP SYNDROME;; CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATED TEMPERATURE SYNDROME; CANDLE
Number Sign 256050 ATELOSTEOGENESIS, TYPE II; AO2 AOII;; NEONATAL OSSEOUS DYSPLASIA I DE LA CHAPELLE DYSPLASIA, INCLUDED; DLCD, INCLUDED
Number Sign 256100 NEPHRONOPHTHISIS 1; NPHP1 NEPHRONOPHTHISIS, FAMILIAL JUVENILE;; NPH1
NULL 256120 NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM
NULL 256150 NEPHROSIALIDOSIS
NULL 256200 NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS
Number Sign 256300 NEPHROTIC SYNDROME, TYPE 1; NPHS1 FINNISH CONGENITAL NEPHROSIS; CNF;; NEPHROTIC SYNDROME, CONGENITAL
Caret 256340 MOVED TO 146255
Caret 256350 MOVED TO 600995
Number Sign 256370 NEPHROTIC SYNDROME, TYPE 4; NPHS4
Number Sign 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PHHI;; HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY;; HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA;; NESIDIOBLASTOSIS OF PANCREAS;; HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS;; HYPERINSULINISM, CONGENITAL
Number Sign 256500 NETHERTON SYNDROME; NETH ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE;; NS;; NETHERTON DISEASE;; COMEL-NETHERTON SYNDROME
Number Sign 256520 NEU-LAXOVA SYNDROME 1; NLS1 NEU-LAXOVA SYNDROME; NLS
Number Sign 256540 GALACTOSIALIDOSIS; GSL GOLDBERG SYNDROME;; NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY;; NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION; NGBE;; LYSOSOMAL PROTECTIVE PROTEIN DEFICIENCY;; CATHEPSIN A DEFICIENCY;; PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY;; PPCA DEFICIENCY
Number Sign 256550 NEURAMINIDASE DEFICIENCY SIALIDOSIS, TYPE II;; MUCOLIPIDOSIS I;; ML I;; LIPOMUCOPOLYSACCHARIDOSIS;; SIALIDASE DEFICIENCY;; GLYCOPROTEIN NEURAMINIDASE DEFICIENCY;; NEUG DEFICIENCY;; NEURAMINIDASE 1 DEFICIENCY;; NEU DEFICIENCY;; NEU1 DEFICIENCY SIALIDOSIS, TYPE I, INCLUDED;; CHERRY RED SPOT--MYOCLONUS SYNDROME, INCLUDED;; MYOCLONUS--CHERRY RED SPOT SYNDROME, INCLUDED
Number Sign 256600 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A NEURODEGENERATION, PLA2G6-ASSOCIATED; PLAN;; NEUROAXONAL DYSTROPHY, INFANTILE; INAD; INAD1;; SEITELBERGER DISEASE
NULL 256690 NEUROFACIODIGITORENAL SYNDROME NFDR SYNDROME
Number Sign 256700 NEUROBLASTOMA, SUSCEPTIBILITY TO NEUROBLASTOMA, SUSCEPTIBILITY TO, 1, INCLUDED; NBLST1, INCLUDED
Number Sign 256710 ELEJALDE DISEASE NEUROECTODERMAL MELANOLYSOSOMAL DISEASE
NULL 256720 NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY
Number Sign 256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE, INCLUDED; INCL, INCLUDED;; SANTAVUORI DISEASE, INCLUDED;; SANTAVUORI-HALTIA DISEASE, INCLUDED
Number Sign 256731 CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5 CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED;; FINNISH vLINCL, INCLUDED
Number Sign 256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS;; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IV; HSAN4;; HSAN IV;; FAMILIAL DYSAUTONOMIA, TYPE II
Number Sign 256810 MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6 NAVAJO NEUROHEPATOPATHY; NNH;; NAVAJO NEUROPATHY; NN NAVAJO FAMILIAL NEUROGENIC ARTHROPATHY, INCLUDED
Number Sign 256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
Number Sign 256850 GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1 GAN
Caret 256851 MOVED TO 256850
Percent 256855 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE HMSN WITH EXCESSIVE MYELIN OUTFOLDING, AUTOSOMAL RECESSIVE;; CHARCOT-MARIE-TOOTH DISEASE WITH EXCESSIVE MYELIN FOLDING, AUTOSOMAL RECESSIVE
NULL 256860 NEUROPATHY, HEREDITARY SENSORY, ATYPICAL
NULL 256870 NEUROPATHY, PAINFUL
NULL 257000 NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES
Caret 257050 MOVED TO 257220
NULL 257100 NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA
Percent 257150 NEUTROPHIL ACTIN DYSFUNCTION; NAD
Number Sign 257200 NIEMANN-PICK DISEASE, TYPE A SPHINGOMYELIN LIPIDOSIS;; SPHINGOMYELINASE DEFICIENCY NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED
Number Sign 257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1 NIEMANN-PICK DISEASE, TYPE C; NPC;; NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK;; NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM;; NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM;; NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY;; NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NIEMANN-PICK DISEASE, TYPE D, INCLUDED;; NIEMANN-PICK DISEASE, NOVA SCOTIAN TYPE, INCLUDED
Caret 257250 MOVED TO 257220
Number Sign 257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE;; CSNB, COMPLETE, AUTOSOMAL RECESSIVE
Number Sign 257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 MVA SYNDROME
Number Sign 257320 LISSENCEPHALY 2; LIS2 LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE;; NORMAN-ROBERTS SYNDROME
NULL 257350 NUCHAL BLEB, FAMILIAL CYSTIC HYGROMA, FETAL; FCH
NULL 257400 NYSTAGMUS, CONGENITAL, AUTOSOMAL RECESSIVE
NULL 257500 OBESITY-HYPOVENTILATION SYNDROME PICKWICKIAN SYNDROME
Percent 257550 OCULAR MOTOR APRAXIA OCULOMOTOR APRAXIA, COGAN TYPE; COMA;; SACCADE INITIATION FAILURE, CONGENITAL
Percent 257600 OCULAR MYOPATHY WITH CURARE SENSITIVITY
NULL 257790 OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS
Percent 257800 OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION CROSS SYNDROME;; KRAMER SYNDROME
Number Sign 257850 OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE ODDD, AUTOSOMAL RECESSIVE;; OCULODENTOOSSEOUS DYSPLASIA, AUTOSOMAL RECESSIVE;; ODOD, AUTOSOMAL RECESSIVE
Percent 257910 OCULOPALATOCEREBRAL SYNDROME OCULOPALATOCEREBRAL DWARFISM;; OPC DWARFISM
Number Sign 257920 3MC SYNDROME 1; 3MC1 OCULOPALATOSKELETAL SYNDROME;; CRANIOSYNOSTOSIS WITH LID ANOMALIES;; MICHELS SYNDROME, FORMERLY
Caret 257950 MOVED TO 164300
NULL 257960 OCULOTRICHODYSPLASIA; OTD
Percent 257970 OCULORENOCEREBELLAR SYNDROME ORC SYNDROME
Number Sign 257980 ODONTOONYCHODERMAL DYSPLASIA; OODD
NULL 258040 OEIS COMPLEX OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS
Number Sign 258100 OGUCHI DISEASE 1 NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1; CSNBO1
Caret 258120 MOVED TO 271245
Percent 258150 SPERMATOGENIC FAILURE 1; SPGF1 OLIGOSYNAPTIC INFERTILITY;; OLIGOCHIASMATIC INFERTILITY
NULL 258200 OLIVER SYNDROME POSTAXIAL POLYDACTYLY AND MENTAL RETARDATION
Percent 258300 OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE OPCA II, FICKLER-WINKLER TYPE
Number Sign 258315 OMODYSPLASIA 1; OMOD1 OMODYSPLASIA, GENERALIZED FORM;; OMODYSPLASIA, AUTOSOMAL RECESSIVE;; MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS
NULL 258320 OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL CLEFT PALATE-OMPHALOCELE SYNDROME, LETHAL
Percent 258360 ONYCHOTRICHODYSPLASIA AND NEUTROPENIA
Percent 258400 OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS
Number Sign 258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1
NULL 258470 OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA
Number Sign 258480 OPSISMODYSPLASIA; OPSMD
Percent 258500 OPTIC ATROPHY 6; OPA6 OPTIC ATROPHY, CONGENITAL OR EARLY INFANTILE, AUTOSOMAL RECESSIVE
Number Sign 258501 3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3 MGA, TYPE III; MGA3;; OPTIC ATROPHY PLUS SYNDROME;; OPTIC ATROPHY, INFANTILE, WITH CHOREA AND SPASTIC PARAPLEGIA;; IRAQI-JEWISH 'OPTIC ATROPHY PLUS';; COSTEFF SYNDROME;; OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE;; OPA3, AUTOSOMAL RECESSIVE
NULL 258650 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE
Number Sign 258660 NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO NAION, SUSCEPTIBILITY TO;; OPTIC NEUROPATHY, ANTERIOR ISCHEMIC, SUSCEPTIBILITY TO
Percent 258700 OPTICOCOCHLEODENTATE DEGENERATION
NULL 258800 ORAL SENSIBILITY, DISTURBANCE OF
NULL 258840 ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS
Percent 258850 OROFACIODIGITAL SYNDROME III; OFD3 OFDS III;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE III;; SUGARMAN SYNDROME
Number Sign 258860 OROFACIODIGITAL SYNDROME IV; OFD4 OFDS IV;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV;; OFD SYNDROME WITH TIBIAL DEFECTS;; MOHR-MAJEWSKI SYNDROME;; OFD SYNDROME, BARAITSER-BURN TYPE;; BARAITSER-BURN SYNDROME
Percent 258865 OROFACIODIGITAL SYNDROME IX; OFD9 OFDS IX;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE IX;; ORAL-FACIAL-DIGITAL SYNDROME WITH RETINAL ABNORMALITIES;; OROFACIODIGITAL SYNDROME WITH RETINAL ABNORMALITIES
Number Sign 258870 GYRATE ATROPHY OF CHOROID AND RETINA; GACR HYPERORNITHINEMIA WITH GYRATE ATROPHY OF CHOROID AND RETINA; HOGA;; GYRATE ATROPHY;; ORNITHINE AMINOTRANSFERASE DEFICIENCY;; OAT DEFICIENCY;; ORNITHINE KETO ACID AMINOTRANSFERASE DEFICIENCY;; OKT DEFICIENCY;; ORNITHINE-DELTA-AMINOTRANSFERASE DEFICIENCY
Number Sign 258900 OROTIC ACIDURIA OROTIC ACIDURIA I;; OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY;; OPRT AND ODC DEFICIENCY;; OROTIDYLIC PYROPHOSPHORYLASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY;; URIDINE MONOPHOSPHATE SYNTHASE DEFICIENCY;; UMP SYNTHASE DEFICIENCY;; UMPS DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA, INCLUDED; OAWA, INCLUDED
Caret 258920 MOVED TO 258900
Number Sign 259050 PRIMROSE SYNDROME; PRIMS OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES
Number Sign 259100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 PHO, AUTOSOMAL RECESSIVE;; PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE;; PDP, AUTOSOMAL RECESSIVE;; TOURAINE-SOLENTE-GOLE SYNDROME CRANIOOSTEOARTHROPATHY, INCLUDED; COA, INCLUDED;; FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD, INCLUDED;; CURRARINO IDIOPATHIC OSTEOARTHROPATHY, INCLUDED; CIO, INCLUDED
NULL 259200 BLOUNT DISEASE, ADOLESCENT OSTEOCHONDROSIS DEFORMANS TIBIAE, ADOLESCENT;; TIBIA VARA, ADOLESCENT
Percent 259250 OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE
NULL 259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI
Caret 259400 MOVED TO 166210
NULL 259410 OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS
Number Sign 259420 OSTEOGENESIS IMPERFECTA, TYPE III; OI3 OI, TYPE III;; OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE
Number Sign 259440 OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 OI, TYPE IX
Number Sign 259450 BRUCK SYNDROME 1; BRKS1 KUSKOKWIM DISEASE;; ARTHROGRYPOSIS-LIKE DISORDER
Number Sign 259500 OSTEOGENIC SARCOMA OSTEOSARCOMA; OSRC
NULL 259550 OSTEOID OSTEOMA
Number Sign 259600 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA TORG SYNDROME;; NODULOSIS-ARTHROPATHY-OSTEOLYSIS SYNDROME;; NAO SYNDROME;; AL-AQEEL SEWAIRI SYNDROME;; OSTEOLYSIS, HEREDITARY MULTICENTRIC;; TORG-WINCHESTER SYNDROME, FORMERLY
NULL 259610 OSTEOLYSIS SYNDROME, RECESSIVE OSTEOLYSIS, DISTAL, WITH SHORT STATURE, MENTAL RETARDATION, AND CHARACTERISTIC FACIAL APPEARANCE
NULL 259650 OSTEOMA OF MIDDLE EAR
NULL 259660 OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION
NULL 259680 CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CRMO OSTEOMYELITIS, CHRONIC MULTIFOCAL; CMO
NULL 259690 OSTEOPENIA AND SPARSE HAIR
Number Sign 259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 OSTEOPETROSIS, INFANTILE MALIGNANT 1;; MARBLE BONES, AUTOSOMAL RECESSIVE;; ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE
Number Sign 259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 OSTEOPETROSIS, OSTEOCLAST-POOR;; OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM
Number Sign 259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 OSTEOPETROSIS, INFANTILE MALIGNANT 3
Number Sign 259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS;; CARBONIC ANHYDRASE II DEFICIENCY;; GUIBAUD-VAINSEL SYNDROME;; MARBLE BRAIN DISEASE
NULL 259750 OSTEOPOROSIS, JUVENILE IDIOPATHIC JUVENILE OSTEOPOROSIS; IJO
Number Sign 259770 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG OPS;; OSTEOGENESIS IMPERFECTA, OCULAR FORM
Number Sign 259775 RAINE SYNDROME; RNS OSTEOSCLEROTIC BONE DYSPLASIA, LETHAL
Percent 259780 OTOONYCHOPERONEAL SYNDROME
Number Sign 259900 HYPEROXALURIA, PRIMARY, TYPE I; HP1 OXALOSIS I;; GLYCOLIC ACIDURIA;; ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY;; PEROXISOMAL ALANINE:GLYOXYLATE AMINOTRANSFERASE DEFICIENCY;; HEPATIC AGT DEFICIENCY;; SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY
Number Sign 260000 HYPEROXALURIA, PRIMARY, TYPE II; HP2 OXALOSIS II;; GLYCERIC ACIDURIA;; GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE DEFICIENCY;; D-GLYCERATE DEHYDROGENASE DEFICIENCY
Number Sign 260005 5-OXOPROLINASE DEFICIENCY; OPLAHD OXOPROLINURIA DUE TO 5-OXOPROLINASE DEFICIENCY
NULL 260100 PA POLYMORPHISM OF ALPHA-2-GLOBULIN ALPHA-2-GLOBULIN POLYMORPHISM PA
NULL 260130 PACHYONYCHIA CONGENITA, AUTOSOMAL RECESSIVE
NULL 260150 PALANT CLEFT PALATE SYNDROME
NULL 260200 PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA
Number Sign 260300 PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15 PARKINSONIAN-PYRAMIDAL SYNDROME; PKPS;; PALLIDOPYRAMIDAL SYNDROME;; PALLIDO-PYRAMIDAL SYNDROME
Number Sign 260350 PANCREATIC CANCER PANCREATIC CARCINOMA;; PANCREATIC ACINAR CARCINOMA
Number Sign 260370 PANCREATIC AGENESIS 1; PAGEN1 PAGEN;; PANCREATIC HYPOPLASIA, CONGENITAL
Number Sign 260400 SHWACHMAN-DIAMOND SYNDROME; SDS PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION;; SHWACHMAN-BODIAN SYNDROME;; LIPOMATOSIS OF PANCREAS, CONGENITAL
NULL 260450 PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE
NULL 260470 PANENCEPHALITIS, SUBACUTE SCLEROSING SUBACUTE SCLEROSING PANENCEPHALITIS; SSPE
NULL 260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX
Caret 260490 MOVED TO 174800
Number Sign 260500 PAPILLOMA OF CHOROID PLEXUS; CPP CHOROID PLEXUS PAPILLOMA CHOROID PLEXUS CARCINOMA, INCLUDED; CPC, INCLUDED
NULL 260530 PARANA HARD-SKIN SYNDROME
Number Sign 260540 PARKINSON-DEMENTIA SYNDROME SUPRANUCLEAR PALSY, PROGRESSIVE, 1, ATYPICAL, INCLUDED;; STEELE-RICHARDSON-OLSZEWSKI SYNDROME, ATYPICAL, INCLUDED
NULL 260555 PARTINGTON-ANDERSON SYNDROME
Number Sign 260565 PEHO SYNDROME; PEHO PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY;; INFANTILE CEREBELLOOPTIC ATROPHY
NULL 260570 PELGER-HUET-LIKE ANOMALY AND EPISODIC FEVER WITH ABDOMINAL PAIN
Number Sign 260600 LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3
NULL 260650 PELLAGRA-LIKE SYNDROME
Number Sign 260660 COUSIN SYNDROME CRANIOFACIAL DYSMORPHISM, HYPOPLASIA OF SCAPULA AND PELVIS, AND SHORT STATURE;; PELVISCAPULAR DYSPLASIA
Number Sign 260800 PENTOSURIA; PNTSU L-XYLULOSURIA;; XYLITOL DEHYDROGENASE DEFICIENCY;; L-XYLULOSE REDUCTASE DEFICIENCY
NULL 260900 PERICARDIAL EFFUSION, CHRONIC CHOLESTEROL PERICARDITIS
NULL 260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL DISSECTING CELLULITIS OF THE SCALP
Number Sign 260920 HYPER-IgD SYNDROME; HIDS HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME;; PERIODIC FEVER, DUTCH TYPE
NULL 260950 PERIODONTITIS, CHRONIC PERIODONTITIS, ADULT
NULL 260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN
Caret 260980 MOVED TO 300388
Number Sign 261000 INTRINSIC FACTOR DEFICIENCY; IFD PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR
Number Sign 261100 MEGALOBLASTIC ANEMIA 1 MGA1;; IMERSLUND-GRASBECK SYNDROME; IGS;; PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA;; ENTEROCYTE COBALAMIN MALABSORPTION;; ENTEROCYTE INTRINSIC FACTOR RECEPTOR, DEFECT OF
NULL 261400 PERONEUS TERTIUS MUSCLE, ABSENCE OF
Number Sign 261500 EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD EOSINOPHIL PEROXIDASE DEFICIENCY, PARTIAL;; PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS;; PRESENTEY ANOMALY
Caret 261510 MOVED TO 261515
Number Sign 261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY;; DBP DEFICIENCY;; PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY;; PBFE DEFICIENCY
Number Sign 261540 PETERS-PLUS SYNDROME KRAUSE-KIVLIN SYNDROME;; PETERS ANOMALY WITH SHORT-LIMB DWARFISM
Number Sign 261550 PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS PSEUDOHERMAPHRODITISM, MALE INTERNAL;; HERNIA UTERI INGUINALE;; PERSISTENT OVIDUCT SYNDROME;; FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE
NULL 261560 PFEIFFER-PALM-TELLER SYNDROME PPT SYNDROME;; SHORT STATURE, UNIQUE FACIES, ENAMEL HYPOPLASIA, PROGRESSIVE JOINT STIFFNESS, AND HIGH-PITCHED VOICE
NULL 261575 PHAVER SYNDROME
NULL 261590 PHENFORMIN 4-HYDROXYLATION
Number Sign 261600 PHENYLKETONURIA; PKU PHENYLALANINE HYDROXYLASE DEFICIENCY;; PAH DEFICIENCY;; OLIGOPHRENIA PHENYLPYRUVICA;; FOLLING DISEASE HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED;; HPA, NON-PKU MILD, INCLUDED;; PHENYLKETONURIA, MATERNAL, INCLUDED
Number Sign 261630 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY;; DIHYDROPTERIDINE REDUCTASE DEFICIENCY;; DHPR DEFICIENCY;; QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY;; QDPR DEFICIENCY
Number Sign 261640 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTS DEFICIENCY;; 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY;; PTS DEFICIENCY HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY, INCLUDED
Percent 261650 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL; PCKDM PCK2 DEFICIENCY;; PEPCK2 DEFICIENCY
Caret 261660 REMOVED FROM DATABASE
Number Sign 261670 GLYCOGEN STORAGE DISEASE X; GSD10 GSD X;; PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF;; MYOPATHY DUE TO PHOSPHOGLYCERATE MUTASE DEFICIENCY;; PGAMM DEFICIENCY
Number Sign 261680 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC; PCKDC PCK1 DEFICIENCY, CYTOSOLIC;; PEPCK DEFICIENCY, CYTOSOLIC
Number Sign 261740 GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL PHOSPHORYLASE KINASE DEFICIENCY OF HEART;; GLYCOGEN STORAGE DISEASE OF HEART
Number Sign 261750 GLYCOGEN STORAGE DISEASE IXb; GSD9B GSD IXb;; GLYCOGENOSIS OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE;; PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE
Percent 261800 PIERRE ROBIN SYNDROME; PRBNS GLOSSOPTOSIS, MICROGNATHIA, AND CLEFT PALATE;; PIERRE ROBIN SEQUENCE
Percent 261900 PILI TORTI, EARLY-ONSET PILI TORTI, RONCHESE TYPE;; TWISTED HAIR
NULL 261990 PILI TORTI AND DEVELOPMENTAL DELAY
Number Sign 262000 BJORNSTAD SYNDROME; BJS PILI TORTI AND NERVE DEAFNESS;; PTD
NULL 262020 PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS TRICHODENTAL DYSPLASIA WITH HYPEROPIA
Number Sign 262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES RABSON-MENDENHALL SYNDROME;; MENDENHALL SYNDROME
Number Sign 262300 ACHROMATOPSIA 3; ACHM3 PINGELAPESE BLINDNESS;; TOTAL COLORBLINDNESS WITH MYOPIA;; ACHROMATOPSIA WITH MYOPIA;; ACHM1, FORMERLY;; ROD MONOCHROMATISM 1, FORMERLY;; ROD MONOCHROMACY 1, FORMERLY; RMCH1, FORMERLY
Caret 262350 MOVED TO 194190
Number Sign 262400 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A IGHD IA;; GROWTH HORMONE DEFICIENCY, ISOLATED, AUTOSOMAL RECESSIVE;; ILLIG-TYPE GROWTH HORMONE DEFICIENCY;; PRIMORDIAL DWARFISM;; SEXUAL ATELEIOTIC DWARFISM;; PITUITARY DWARFISM I
Number Sign 262500 LARON SYNDROME GROWTH HORMONE INSENSITIVITY SYNDROME;; PITUITARY DWARFISM II;; GROWTH HORMONE RECEPTOR DEFICIENCY
Number Sign 262600 PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2 PANHYPOPITUITARISM;; ATELIOTIC DWARFISM WITH HYPOGONADISM;; PITUITARY DWARFISM III;; HANHART DWARFISM
Number Sign 262650 KOWARSKI SYNDROME BIODEFECTIVE GROWTH HORMONE;; PITUITARY DWARFISM WITH NORMAL IMMUNOREACTIVE GROWTH HORMONE AND LOW SOMATOMEDIN
Number Sign 262700 PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4 PITUITARY HORMONE DEFICIENCY, COMBINED, WITH OR WITHOUT CEREBELLAR DEFECTS;; SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA
NULL 262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA
Caret 262780 MOVED TO 107910
NULL 262800 PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF
Number Sign 262850 ALPHA-2-PLASMIN INHIBITOR DEFICIENCY ANTIPLASMIN DEFICIENCY;; PLASMIN INHIBITOR DEFICIENCY
NULL 262875 PLATELET PROSTACYCLIN RECEPTOR DEFECT VIENNA-HIETZING DEFECT
Number Sign 262890 SCOTT SYNDROME; SCTS BLEEDING DISORDER, PLATELET-TYPE, 7; BDPLT7;; BLEEDING ABNORMALITY DUE TO DEFICIENCY OF PLATELET BINDING OF FACTOR X;; PROTHROMBIN CONVERSION DEFECT, FAMILIAL;; PROTHROMBIN CONSUMPTION DEFICIENCY;; PROTHROMBIN CONSUMPTION INHIBITOR, FAMILIAL
NULL 262900 PLEOCONIAL MYOPATHY WITH SALT CRAVING
Percent 263000 INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP PNEUMONITIS, DESQUAMATIVE INTERSTITIAL, FAMILIAL;; PNEUMONIA, DESQUAMATIVE INTERSTITIAL, FAMILIAL;; INTERSTITIAL LUNG DISEASE, DESQUAMATIVE;; ILD, DESQUAMATIVE
NULL 263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS
Number Sign 263200 POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4 POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE;; POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD;; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1;; POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I;; PKD3, FORMERLY HEPATIC FIBROSIS, CONGENITAL, INCLUDED
Number Sign 263210 GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA
Number Sign 263300 POLYCYTHEMIA VERA; PV POLYCYTHEMIA RUBRA VERA; PRV
Number Sign 263400 ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2 ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN;; POLYCYTHEMIA, VHL-DEPENDENT;; POLYCYTHEMIA, CHUVASH TYPE
Percent 263450 POLYDACTYLY, POSTAXIAL, TYPE A5; PAPA5
Caret 263510 MOVED TO 613091
Number Sign 263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;; SRPS, TYPE II;; MAJEWSKI SYNDROME;; SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;; POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II
Caret 263530 MOVED TO 613091
NULL 263540 POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES
NULL 263550 POLYMYOCLONUS, INFANTILE
Caret 263560 MOVED TO 214400
Number Sign 263570 POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM; APBN POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD
NULL 263600 POLYSACCHARIDE, STORAGE OF UNUSUAL
NULL 263610 POLYHYDRAMNIOS, CHRONIC IDIOPATHIC LACTOGEN RECEPTOR DEFECT OF CHORION
Caret 263620 MOVED TO 240300
Percent 263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION BONNEAU SYNDROME
Number Sign 263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE BARTSOCAS-PAPAS SYNDROME; BPS;; PTERYGIUM, POPLITEAL, LETHAL TYPE;; MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE
Number Sign 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC CEP;; GUNTHER DISEASE;; UROPORPHYRINOGEN III SYNTHASE DEFICIENCY;; UROS DEFICIENCY
Number Sign 263750 POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS MILLER SYNDROME;; GENEE-WIEDEMANN SYNDROME
Number Sign 263800 GITELMAN SYNDROME; GTLMNS HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA;; POTASSIUM AND MAGNESIUM DEPLETION
NULL 264010 PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY URBAN-ROGERS-MEYER SYNDROME
NULL 264050 PRENATAL BOWING
NULL 264060 PREPAPILLARY VASCULAR LOOPS PRERETINAL VASCULAR LOOPS
Number Sign 264070 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY;; HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA;; CADH DEFICIENCY;; PCBD DEFICIENCY
NULL 264080 PROGESTERONE RESISTANCE PSEUDOCORPUS LUTEUM INSUFFICIENCY
Percent 264090 PROGEROID SYNDROME, NEONATAL WIEDEMANN-RAUTENSTRAUCH SYNDROME
NULL 264110 PROLACTIN DEFICIENCY, ISOLATED
NULL 264120 PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES PRL DEFICIENCY WITH OBESITY AND ENLARGED TESTES
NULL 264140 PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, AND DEAFNESS
Caret 264150 MOVED TO 177170
Caret 264160 MOVED TO 177170
NULL 264180 PSEUDODIASTROPHIC DYSPLASIA
Caret 264200 MOVED TO 221900
Percent 264270 PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES
Number Sign 264300 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY 17-KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS;; 17-KSR DEFICIENCY;; NEUTRAL 17-BETA-HYDROXYSTEROID OXIDOREDUCTASE DEFICIENCY;; PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY, INCLUDED
Number Sign 264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B PHA I, AUTOSOMAL RECESSIVE
NULL 264420 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM PFD, LAVIA TYPE;; PFD, FINNISH TYPE
Caret 264450 MOVED TO 190685
Number Sign 264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY;; PSEUDONEONATAL ADRENOLEUKODYSTROPHY
NULL 264475 PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES ACROOTOOCULAR SYNDROME;; AOO SYNDROME
NULL 264480 PSEUDOTRISOMY 13 SYNDROME HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME
NULL 264500 PSEUDOURIDINURIA AND MENTAL DEFECT
Number Sign 264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH MALE PSEUDOHERMAPHRODITISM DUE TO 5-ALPHA-REDUCTASE DEFICIENCY;; FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2 MICROPENIS, INCLUDED
Number Sign 264700 VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A VITAMIN D-DEPENDENT RICKETS, TYPE 1A;; 1-ALPHA, 25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE;; 25-HYDROXYCHOLECALCIFEROL-1-HYDROXYLASE DEFICIENCY;; 1-ALPHA-HYDROXYLASE DEFICIENCY;; VITAMIN D DEPENDENCY, TYPE 1; VDD1;; PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA; PDDR1A;; PDDR IA
Number Sign 264800 PSEUDOXANTHOMA ELASTICUM; PXE GRONBLAD-STRANDBERG SYNDROME PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF, INCLUDED;; PXE, MODIFIER OF SEVERITY OF, INCLUDED
Caret 264810 REMOVED FROM DATABASE
Asterisk 264900 COAGULATION FACTOR XI; F11 FACTOR XI
Number Sign 265000 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS ESCOBAR SYNDROME;; MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE;; PTERYGIUM SYNDROME;; MULTIPLE PTERYGIUM SYNDROME;; PTERYGIUM COLLI SYNDROME;; PTERYGIUM UNIVERSALE
Number Sign 265050 3MC SYNDROME 2; 3MC2 PTOSIS OF EYELIDS WITH DIASTASIS RECTI AND HIP DYSPLASIA;; OCULO-SKELETAL-ABDOMINAL SYNDROME;; OSA SYNDROME;; CARNEVALE SYNDROME, FORMERLY
Number Sign 265100 PULMONARY ALVEOLAR MICROLITHIASIS
Number Sign 265120 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1 PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1;; INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN B DEFICIENCY;; INTERSTITIAL LUNG DISEASE, NONSPECIFIC, DUE TO SURFACTANT PROTEIN B DEFICIENCY
NULL 265140 PULMONARY ARTERIOVENOUS FISTULAS
NULL 265150 PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM
NULL 265200 PULMONARY BULLAE CAUSING PNEUMOTHORAX
Percent 265300 LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL LYMPHANGIOMATOSIS, PULMONARY;; PULMONARY CYSTIC LYMPHANGIECTASIS
Number Sign 265380 ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; ACDMPV ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES
NULL 265400 PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE
NULL 265430 LUNG AGENESIS PULMONARY HYPOPLASIA, PRIMARY
Number Sign 265450 PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1 PVOD
NULL 265500 PULMONIC STENOSIS
NULL 265600 PULMONIC STENOSIS AND CONGENITAL NEPHROSIS
Number Sign 265800 PYCNODYSOSTOSIS PYKNODYSOSTOSIS; PKND;; PYCD
Percent 265850 PYGMY PYGMY, AFRICAN
NULL 265880 PYKNOACHONDROGENESIS
Number Sign 265900 PYLE DISEASE; PYL METAPHYSEAL DYSPLASIA
Percent 265950 PYLORIC ATRESIA
Number Sign 266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD PYRIDOXINE-DEPENDENT EPILEPSY; PDE;; PYRIDOXINE DEPENDENCY WITH SEIZURES;; AASA DEHYDROGENASE DEFICIENCY
Number Sign 266120 URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY;; PYRIMIDINE 5-PRIME NUCLEOTIDASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO;; HEMOLYTIC ANEMIA DUE TO P5N DEFICIENCY;; P5N DEFICIENCY;; UMPH1 DEFICIENCY
Number Sign 266130 GLUTATHIONE SYNTHETASE DEFICIENCY; GSSD 5-OXOPROLINURIA;; PYROGLUTAMIC ACIDURIA
Number Sign 266140 PYROPOIKILOCYTOSIS, HEREDITARY; HPP
Number Sign 266150 PYRUVATE CARBOXYLASE DEFICIENCY PC DEFICIENCY;; ATAXIA WITH LACTIC ACIDOSIS II;; LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUVATE CARBOXYLASE DEFICIENCY;; LEIGH SYNDROME DUE TO PYRUVATE CARBOXYLASE DEFICIENCY
Number Sign 266200 PYRUVATE KINASE DEFICIENCY OF RED CELLS PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE;; PK DEFICIENCY
Percent 266250 RADICULONEUROPATHY, FATAL NEONATAL
NULL 266255 RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA
Number Sign 266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C CDG IIc; CDGIIc;; LEUKOCYTE ADHESION DEFICIENCY, TYPE II; LAD2;; RAMBAM-HASHARON SYNDROME; RHS
NULL 266270 RAMON SYNDROME CHERUBISM, GINGIVAL FIBROMATOSIS, EPILEPSY, MENTAL DEFICIENCY, HYPERTRICHOSIS, AND STUNTED GROWTH
Number Sign 266280 RAPADILINO SYNDROME
Number Sign 266300 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2 RED HAIR COLOR; RHC;; BLOND HAIR/FAIR SKIN;; RHA;; HAIR COLOR 2; HCL2 UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO, INCLUDED
Percent 266350 RED SKIN PIGMENT ANOMALY OF NEW GUINEA
NULL 266400 REESE RETINAL DYSPLASIA
Number Sign 266500 REFSUM DISEASE, CLASSIC REFSUM DISEASE, ADULT, 1;; PHYTANIC ACID OXIDASE DEFICIENCY;; HEREDOPATHIA ATACTICA POLYNEURITIFORMIS;; HEREDITARY MOTOR AND SENSORY NEUROPATHY IV; HMSN4;; HMSN IV
Number Sign 266510 PEROXISOME BIOGENESIS DISORDER 3B; PBD3B
Number Sign 266600 INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1 REGIONAL ENTERITIS, INCLUDED;; CROHN DISEASE, INCLUDED;; ULCERATIVE COLITIS, INCLUDED;; CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO, INCLUDED
NULL 266810 RENAL AND MULLERIAN DUCT HYPOPLASIA
Number Sign 266900 SENIOR-LOKEN SYNDROME 1; SLSN1 SENIOR-LOKEN SYNDROME;; LOKEN-SENIOR SYNDROME;; RENAL-RETINAL SYNDROME;; JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS;; RENAL DYSPLASIA AND RETINAL APLASIA
NULL 266910 RENAL DYSPLASIA-LIMB DEFECTS SYNDROME RL SYNDROME
Number Sign 266920 SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 MAINZER-SALDINO SYNDROME; MZSDS;; CONORENAL SYNDROME;; RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA
Number Sign 267000 PERLMAN SYNDROME; PRLMNS RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM;; NEPHROBLASTOMATOSIS, FETAL ASCITES, MACROSOMIA, AND WILMS TUMOR
Number Sign 267010 MECKEL SYNDROME, TYPE 7; MKS7 RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST;; GOLDSTON SYNDROME
NULL 267200 RENAL TUBULAR ACIDOSIS III RTA, DISLOCATION TYPE;; RTA, BICARBONATE-WASTING TYPE
Number Sign 267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PROGRESSIVE NERVE DEAFNESS;; RENAL TUBULAR ACIDOSIS WITH PROGRESSIVE NERVE DEAFNESS;; RTA WITH PROGRESSIVE NERVE DEAFNESS
NULL 267400 RENAL, GENITAL, AND MIDDLE EAR ANOMALIES
Number Sign 267430 RENAL TUBULAR DYSGENESIS; RTD PRIMITIVE RENAL TUBULE SYNDROME RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED
NULL 267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS RDS OF PREMATURITY;; HYALINE MEMBRANE DISEASE, FORMERLY
NULL 267480 RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA
Number Sign 267500 RETICULAR DYSGENESIS RETICULAR DYSGENESIA;; CONGENITAL ALEUKIA;; SEVERE COMBINED IMMUNODEFICIENCY WITH LEUKOPENIA;; DE VAAL DISEASE;; HEMATOPOIETIC HYPOPLASIA, GENERALIZED;; ALEUKOCYTOSIS
Percent 267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 HPLH1;; HLH1;; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL; FHL; FHLH; HPLH;; RETICULOSIS, FAMILIAL HISTIOCYTIC;; HEMOPHAGOCYTIC RETICULOSIS, FAMILIAL;; ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL; FEL
NULL 267730 RETICULUM CELL SARCOMA
NULL 267740 RETINAL DEGENERATION AND EPILEPSY
Number Sign 267750 KNOBLOCH SYNDROME 1; KNO1 KNO;; RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
NULL 267760 RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION, AND ANGLE CLOSURE GLAUCOMA
NULL 267800 RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE
NULL 267900 RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA
Number Sign 268000 RETINITIS PIGMENTOSA; RP
NULL 268010 RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS
NULL 268020 RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM INSULIN-RESISTANT DIABETES WITH ACANTHOSIS NIGRICANS, HYPOGONADISM, PIGMENTARY RETINOPATHY, DEAFNESS, AND MENTAL RETARDATION
NULL 268025 RETINITIS PIGMENTOSA, LATE-ADULT ONSET RETINITIS PIGMENTOSA, 'SENILE'
Caret 268030 MOVED TO 600105
NULL 268040 RETINOHEPATOENDOCRINOLOGIC SYNDROME RHE SYNDROME
NULL 268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION MIRHOSSEINI-HOLMES-WALTON SYNDROME
NULL 268060 RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA, PERICENTRAL
Percent 268080 RETINOSCHISIS OF FOVEA
Number Sign 268100 ENHANCED S-CONE SYNDROME; ESCS GOLDMANN-FAVRE SYNDROME, INCLUDED;; RETINOSCHISIS WITH EARLY HEMERALOPIA, INCLUDED;; FAVRE HYALOIDEORETINAL DEGENERATION, INCLUDED
Number Sign 268130 REVESZ SYNDROME DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 5; DKCA5;; EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
Number Sign 268150 RH-NULL, REGULATOR TYPE; RHN RH DEFICIENCY SYNDROME, INCLUDED;; RH-NULL DISEASE, INCLUDED
Number Sign 268200 MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE MYOGLOBINURIA, FAMILIAL PAROXYSMAL PARALYTIC;; RHABDOMYOLYSIS, ACUTE RECURRENT
Number Sign 268210 RHABDOMYOSARCOMA, EMBRYONAL, 1; RMSE1 RHABDOMYOSARCOMA 1; RMS1;; RHABDOMYOSARCOMA CHROMOSOMAL REGION; RMSCR
Number Sign 268220 RHABDOMYOSARCOMA 2; RMS2 RHABDOMYOSARCOMA, ALVEOLAR; RMSA
NULL 268240 RHEUMATIC FEVER-RELATED ANTIGEN RHEUMATIC FEVER, ACUTE, SUSCEPTIBILITY TO, INCLUDED
NULL 268250 RHIZOMELIC SYNDROME RHIZOMELIC DYSPLASIA, FAMILIAL
Number Sign 268300 ROBERTS SYNDROME; RBS LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
Number Sign 268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES RICHIERI-COSTA-PEREIRA SYNDROME; RCPS
Number Sign 268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA, FORMERLY;; COVESDEM SYNDROME, FORMERLY ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS, INCLUDED;; ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY, INCLUDED
NULL 268315 ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION
NULL 268320 RODRIGUES BLINDNESS MICROPHTHALMIA, MICROCORNEA, AND SCLEROCORNEA WITH SHORT STATURE AND HAIR AND DENTAL ABNORMALITIES
Number Sign 268400 ROTHMUND-THOMSON SYNDROME; RTS POIKILODERMA ATROPHICANS AND CATARACT
NULL 268500 ROWLEY-ROSENBERG SYNDROME GROWTH RETARDATION, PULMONARY HYPERTENSION, AND AMINO ACIDURIA
NULL 268650 RUDIGER SYNDROME
Caret 268670 MOVED TO 270400
Percent 268700 SACCHAROPINURIA HYPERLYSINEMIA, TYPE II;; SACCHAROPINE DEHYDROGENASE DEFICIENCY;; ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY
Number Sign 268800 SANDHOFF DISEASE GM2-GANGLIOSIDOSIS, TYPE II;; HEXOSAMINIDASES A AND B DEFICIENCY SANDHOFF DISEASE, ADULT TYPE, INCLUDED;; SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED;; SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED
Percent 268850 RICHIERI-COSTA/GUION-ALMEIDA SYNDROME SHORT STATURE, MENTAL RETARDATION, EYE ANOMALIES, AND CLEFT LIP/PALATE;; SAO PAULO MCA/MR SYNDROME
Number Sign 268900 SARCOSINEMIA; SARCOS HYPERSARCOSINEMIA;; SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY;; SARDH DEFICIENCY; SARDHD;; SARD DEFICIENCY
Caret 268950 MOVED TO 254110
Number Sign 269000 SC PHOCOMELIA SYNDROME SC PSEUDOTHALIDOMIDE SYNDROME
Number Sign 269150 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME SGS
Number Sign 269160 SCHIZENCEPHALY
Percent 269200 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2 SCHMIDT SYNDROME;; DIABETES MELLITUS, ADDISON DISEASE, MYXEDEMA;; POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE II;; PGA II;; POLYENDOCRINE AUTOIMMUNE SYNDROME, TYPE II;; APS II
Number Sign 269250 SCHNECKENBECKEN DYSPLASIA; SHNKND CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS
Percent 269300 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD
Number Sign 269400 ANTERIOR SEGMENT DYSGENESIS 7; ASGD7 CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES; COPOA;; SCLEROCORNEA WITH OTHER OCULAR ANOMALIES
Number Sign 269500 SCLEROSTEOSIS 1; SOST1 SOST;; CORTICAL HYPEROSTOSIS WITH SYNDACTYLY
Number Sign 269600 SEA-BLUE HISTIOCYTE DISEASE SEA-BLUE HISTIOCYTOSIS;; HISTIOCYTOSIS, SEA-BLUE
NULL 269630 SECOND METATARSAL-METACARPAL SYNDROME
NULL 269650 SECRETORY COMPONENT DEFICIENCY IgA DEFICIENCY, SECRETORY
Number Sign 269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2;; SEIP SYNDROME;; BERARDINELLI SYNDROME;; LIPODYSTROPHY, TOTAL, AND ACROMEGALOID GIGANTISM;; LIPOATROPHIC DIABETES, CONGENITAL;; LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 2;; BRUNZELL SYNDROME, BSCL2-RELATED
NULL 269720 SEIZURES, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE BFNS, AUTOSOMAL RECESSIVE;; CONVULSIONS, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE;; EPILEPSY, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE
NULL 269800 SENILE PLAQUE FORMATION
Number Sign 269840 IMMUNODEFICIENCY 48; IMD48 SELECTIVE T-CELL DEFECT; STCD
Percent 269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;; SRPS IV;; BEEMER-LANGER SYNDROME;; SHORT RIB SYNDROME, BEEMER TYPE
NULL 269870 SHORT STATURE-OBESITY SYNDROME; SSOS
Number Sign 269880 SHORT SYNDROME SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGER ANOMALY, AND TEETHING DELAY;; LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE
Number Sign 269920 INFANTILE SIALIC ACID STORAGE DISEASE; ISSD SIALURIA, INFANTILE FORM;; N-ACETYLNEURAMINIC ACID STORAGE DISEASE;; NANA STORAGE DISEASE; NSD
Number Sign 269921 SIALURIA SIALURIA, FRENCH TYPE
Caret 269950 MOVED TO 206000
Caret 270050 MOVED TO 180860
Number Sign 270100 HETEROTAXY, VISCERAL, 5, AUTOSOMAL; HTX5 SITUS INVERSUS VISCERUM; SIV
Percent 270150 SJOGREN SYNDROME SICCA SYNDROME
Number Sign 270200 SJOGREN-LARSSON SYNDROME; SLS ICHTHYOSIS, SPASTIC NEUROLOGIC DISORDER, AND OLIGOPHRENIA;; FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY;; FATTY ALDEHYDE DEHYDROGENASE DEFICIENCY;; FALDH DEFICIENCY
NULL 270220 SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT ICHTHYOSIS, SJOGREN-LARSSON-LIKE, WITHOUT CNS OR EYE INVOLVEMENT
Caret 270230 MOVED TO 187600
Caret 270240 MOVED TO 268400
Number Sign 270300 PEELING SKIN SYNDROME 1; PSS1 PSS;; SKIN PEELING, FAMILIAL CONTINUOUS GENERALIZED;; KERATOLYSIS EXFOLIATIVA CONGENITA;; DECIDUOUS SKIN
NULL 270350 ANOSMIA FOR BUTYL MERCAPTAN SKUNK N-BUTYL MERCAPTAN, INABILITY TO SMELL
Number Sign 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS SLO SYNDROME;; RSH SYNDROME;; RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME;; POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG;; LETHAL ACRODYSGENITAL SYNDROME
Number Sign 270420 DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 SODIUM DIARRHEA, CONGENITAL; CSD;; DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC
NULL 270425 SODIUM-POTASSIUM-ATPase ACTIVITY OF RED CELL SODIUM PUMP SITES, NUMBER OF
Number Sign 270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES SOMATOMEDIN, END-ORGAN INSENSITIVITY TO;; SOMATOMEDIN-C, RESISTANCE TO;; IGF-I RESISTANCE INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN, INCLUDED
NULL 270460 SONODA SYNDROME ROUND FACE WITH DEPRESSED NASAL BRIDGE AND SMALL MOUTH, CONGENITAL HEART DEFECT, AND RETARDED DEVELOPMENT
NULL 270500 ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
Number Sign 270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE; SPAX6;; CHARLEVOIX-SAGUENAY SPASTIC ATAXIA;; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY; ARSACS
Percent 270600 SPASTIC DIPLEGIA AND MENTAL RETARDATION SPASTIC DIPLEGIA, INFANTILE TYPE
Caret 270680 MOVED TO 270750
Number Sign 270685 SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT; SPG17 SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET;; SILVER SYNDROME;; SILVER SPASTIC PARAPLEGIA SYNDROME
Number Sign 270700 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15 SPASTIC PARAPLEGIA AND RETINAL DEGENERATION;; KJELLIN SYNDROME
Caret 270710 MOVED TO 270550, 190350, AND 616944
Number Sign 270750 SPASTIC PARAPLEGIA 23; SPG23 SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES;; SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIES;; LISON SYNDROME
Number Sign 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A
NULL 270805 SPASTIC PARAPLEGIA WITH MYOCLONIC EPILEPSY
NULL 270850 SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION
NULL 270900 SPASTIC PSEUDOSCLEROSIS DISSEMINATED ENCEPHALOMYELOPATHY;; CORTICOPALLIDODEGENERATION
NULL 270950 SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION
Number Sign 270960 SPERMATOGENIC FAILURE 4; SPGF4 AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS;; AZOOSPERMIA WITH MATURATION ARREST;; SPERMATOGENESIS ARREST PREGNANCY LOSS, RECURRENT, 4, INCLUDED; RPRGL4, INCLUDED
Number Sign 270970 SPHEROCYTOSIS, TYPE 3; SPH3 SPHEROCYTOSIS, HEREDITARY, 3; HS3
Caret 271100 MOVED TO 153400
NULL 271109 SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION
NULL 271110 SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY
Caret 271120 MOVED TO 182960
Number Sign 271150 SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4 SPINAL MUSCULAR ATROPHY, ADULT FORM;; SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL RECESSIVE
NULL 271200 SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE
NULL 271220 SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL
NULL 271225 SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES
Number Sign 271245 MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7 SPINOCEREBELLAR ATAXIA, INFANTILE-ONSET; IOSCA;; OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS;; OHAHA SYNDROME;; SPINOCEREBELLAR ATAXIA, INFANTILE, WITH SENSORY NEUROPATHY;; SPINOCEREBELLAR ATAXIA 8, FORMERLY; SCA8, FORMERLY
Percent 271250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3; SCAR3 SPINOCEREBELLAR ATAXIA WITH BLINDNESS AND DEAFNESS; SCABD
NULL 271270 SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM
NULL 271310 SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY CORNEAL-CEREBELLAR SYNDROME;; CORNEAL DYSTROPHY WITH SPINOCEREBELLAR DEGENERATION
NULL 271320 SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA BEDOUIN SPASTIC ATAXIA SYNDROME
NULL 271322 SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM
Number Sign 271400 ASPLENIA, ISOLATED CONGENITAL; ICAS HYPOSPLENIA, ISOLATED CONGENITAL;; SPLENIC HYPOPLASIA;; ASPLENIA, FAMILIAL
NULL 271500 SPLENOPORTAL VASCULAR ANOMALIES
Percent 271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE SPONDYLAR AND NASAL ALTERATIONS WITH STRIATED METAPHYSES;; SPONASTRIME DYSPLASIA;; SHORT-LIMB DWARFISM WITH SADDLE NOSE, SPINAL ALTERATIONS, AND METAPHYSEAL STRIATION
NULL 271520 SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES CASAMASSIMA-MORTON-NANCE SYNDROME;; CMN SYNDROME
Percent 271530 BRACHYOLMIA TYPE 1, HOBAEK TYPE; BCYM1A BRACHYOLMIA, RECESSIVE TYPE OF HOBAEK;; SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA
Caret 271550 MOVED TO 607944
Percent 271600 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE
NULL 271620 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH MENTAL RETARDATION SEDT WITH MENTAL RETARDATION
Percent 271630 BRACHYOLMIA TYPE 1, TOLEDO TYPE; BCYM1B SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE;; SED, CHONDROITIN SULFATE TYPE;; PAPS-CHONDROITIN SULFATE SULFOTRANSFERASE DEFICIENCY
Number Sign 271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; SEMDJL1 SEMDJL
Percent 271650 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT
Number Sign 271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE SMED-SL;; SMED, SHORT LIMB-HAND TYPE;; SMED, TYPE II;; SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-ABNORMAL CALCIFICATION TYPE;; SMED, SHORT LIMB-ABNORMAL CALCIFICATION TYPE;; SMED-SL/AC
Number Sign 271700 SPONDYLOPERIPHERAL DYSPLASIA SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA
Number Sign 271900 CANAVAN DISEASE CANAVAN-VAN BOGAERT-BERTRAND DISEASE;; SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM;; ASPARTOACYLASE DEFICIENCY;; ASPA DEFICIENCY;; ASP DEFICIENCY;; AMINOACYLASE 2 DEFICIENCY;; ACY2 DEFICIENCY
Number Sign 271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI INFANTILE BILATERAL STRIATAL NECROSIS; IBSN;; BILATERAL STRIATAL NECROSIS, INFANTILE;; STRIATAL DEGENERATION, FAMILIAL
NULL 271950 SUBAORTIC STENOSIS, MEMBRANOUS
NULL 271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME ONAT SYNDROME
Number Sign 271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD SSADH DEFICIENCY;; 4-HYDROXYBUTYRIC ACIDURIA;; GABA METABOLIC DEFECT;; GAMMA-HYDROXYBUTYRIC ACIDURIA
NULL 272000 SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION
NULL 272100 SUDANOPHILIC CEREBRAL SCLEROSIS SCHILDER DISEASE
Number Sign 272120 SUDDEN INFANT DEATH SYNDROME SIDS
NULL 272150 SUGARMAN BRACHYDACTYLY BRACHYDACTYLY WITH MAJOR PROXIMAL PHALANGEAL SHORTENING
Number Sign 272200 MULTIPLE SULFATASE DEFICIENCY; MSD MUCOSULFATIDOSIS;; SULFATIDOSIS, JUVENILE, AUSTIN TYPE
Number Sign 272300 SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD SULFOCYSTEINURIA
NULL 272350 SUMMITT SYNDROME
Percent 272370 SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1 NATURAL KILLER CELL SUSCEPTIBILITY 1; NKS1
Number Sign 272430 COLD-INDUCED SWEATING SYNDROME 1; CISS1 CRISPONI SYNDROME;; SOHAR-CRISPONI SYNDROME;; MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY, HYPERTHERMIA, AND SUDDEN DEATH
Number Sign 272440 FILIPPI SYNDROME; FLPIS SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION;; SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION
NULL 272450 SYNDESMODYSPLASIC DWARFISM
Number Sign 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT SPONDYLOCARPOTARSAL SYNDROME;; SYNSPONDYLISM, CONGENITAL;; VERTEBRAL FUSION WITH CARPAL COALITION;; SCOLIOSIS, CONGENITAL, WITH UNILATERAL UNSEGMENTED BAR
Caret 272480 MOVED TO 186700
Caret 272500 MOVED TO 269700
Caret 272550 MOVED TO 138500
NULL 272600 TAPETORETINAL DEGENERATION WITH ATAXIA
NULL 272620 TARDIVE DYSKINESIA
Percent 272650 TATSUMI FACTOR DEFICIENCY
NULL 272700 TAURODONTISM
Number Sign 272750 GM2-GANGLIOSIDOSIS, AB VARIANT HEXOSAMINIDASE ACTIVATOR DEFICIENCY;; GM2 ACTIVATOR DEFICIENCY;; AB VARIANT GM2-GANGLIOSIDOSIS;; TAY-SACHS DISEASE, AB VARIANT
Number Sign 272800 TAY-SACHS DISEASE; TSD GM2-GANGLIOSIDOSIS, TYPE I;; B VARIANT GM2-GANGLIOSIDOSIS;; HEXOSAMINIDASE A DEFICIENCY;; HEXA DEFICIENCY TAY-SACHS DISEASE, JUVENILE, INCLUDED;; HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED;; GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED;; GM2-GANGLIOSIDOSIS, VARIANT B1, INCLUDED;; TAY-SACHS DISEASE, VARIANT B1, INCLUDED;; TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED
NULL 272950 TEEBI-SHALTOUT SYNDROME; TBSH CRANIOFACIAL ANOMALIES, ABNORMAL HAIR, CAMPTODACTYLY, AND CAUDAL APPENDAGE
NULL 272980 TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR TAURODONTIA, ABSENT TEETH, AND SPARSE HAIR
NULL 273000 TEETH, FUSED
NULL 273050 TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM
NULL 273120 TERATOMA, PINEAL
NULL 273150 TESTES, RUDIMENTARY
Percent 273250 TESTICULAR REGRESSION SYNDROME; TRS TESTICULAR REGRESSION, EMBRYONIC;; XY GONADAL AGENESIS SYNDROME;; ANORCHIA, FAMILIAL
Number Sign 273300 TESTICULAR GERM CELL TUMOR; TGCT MALE GERM CELL TUMOR; MGCT SEMINOMA, INCLUDED;; NONSEMINOMATOUS GERM CELL TUMORS, INCLUDED;; TERATOMA, TESTICULAR, INCLUDED;; EMBRYONAL CELL CARCINOMA, INCLUDED;; ENDODERMAL SINUS TUMOR, INCLUDED;; SPERMATOCYTIC SEMINOMA, INCLUDED
Caret 273350 MOVED TO 154230
NULL 273390 TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES
Number Sign 273395 TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE; TETAMS
NULL 273400 TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES ODONTOTRICHOMELIC SYNDROME
NULL 273490 THALAMIC DEGENERATION, SYMMETRIC INFANTILE
NULL 273600 THALIDOMIDE SUSCEPTIBILITY
NULL 273680 THANATOPHORIC DYSPLASIA, GLASGOW VARIANT NEONATALLY LETHAL SHORT-LIMB SKELETAL DYSPLASIA, GLASGOW TYPE
NULL 273730 THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME
NULL 273740 THORACOMELIC DYSPLASIA 'THORACO-LIMB' DYSPLASIA
Number Sign 273750 THREE M SYNDROME 1; 3M1 3M SYNDROME;; LE MERRER SYNDROME;; DOLICHOSPONDYLIC DYSPLASIA;; GLOOMY FACE SYNDROME YAKUT SHORT STATURE SYNDROME, INCLUDED
NULL 273770 THREONINEMIA HYPERTHREONINEMIA
Number Sign 273800 GLANZMANN THROMBASTHENIA; GT BLEEDING DISORDER, PLATELET-TYPE, 2; BDPLT2;; THROMBASTHENIA OF GLANZMANN AND NAEGELI;; PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY;; GP IIb-IIIa COMPLEX, DEFICIENCY OF;; PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OF;; GLYCOPROTEIN COMPLEX IIb-IIIa, DEFICIENCY OF
Number Sign 273900 THROMBOCYTOPENIA 3; THC3 THROMBOCYTOPENIA, AUTOSOMAL RECESSIVE, 3
Number Sign 274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR TAR SYNDROME;; CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB
Number Sign 274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP MICROANGIOPATHIC HEMOLYTIC ANEMIA;; THROMBOTIC MICROANGIOPATHY, FAMILIAL;; UPSHAW-SCHULMAN SYNDROME; USS;; SCHULMAN-UPSHAW SYNDROME;; UPSHAW FACTOR, DEFICIENCY OF;; MICROANGIOPATHIC HEMOLYTIC ANEMIA, CONGENITAL;; THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL
Asterisk 274180 THROMBOXANE A SYNTHASE 1; TBXAS1 THROMBOXANE A SYNTHASE, PLATELET;; CYTOCHROME P450, SUBFAMILY V; CYP5;; CYP5A1
Percent 274190 THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY
NULL 274200 THUMB, DISTAL HYPEREXTENSIBILITY OF
NULL 274205 THUMB, HYPOPLASTIC, WITH CHOROID COLOBOMA, POORLY DEVELOPED ANTIHELIX, AND DEAFNESS
NULL 274210 THYMIC APLASIA WITH FETAL DEATH
NULL 274230 THYMOMA, FAMILIAL THYMIC NEOPLASIA
NULL 274240 THYROCEREBRORETINAL SYNDROME
Caret 274260 MOVED TO 274230
NULL 274265 THYMIC-RENAL-ANAL-LUNG DYSPLASIA
Number Sign 274270 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY DPD DEFICIENCY;; DPYD DEFICIENCY;; THYMINE-URACILURIA, HEREDITARY;; PYRIMIDINEMIA, FAMILIAL 5-FLUOROURACIL TOXICITY, INCLUDED
Number Sign 274300 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH GTHR;; THYROID HORMONE UNRESPONSIVENESS;; REFETOFF SYNDROME
Number Sign 274400 THYROID DYSHORMONOGENESIS 1; TDH1 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1;; IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT
Number Sign 274500 THYROID DYSHORMONOGENESIS 2A; TDH2A THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A;; IODIDE PEROXIDASE DEFICIENCY;; THYROID PEROXIDASE DEFICIENCY
Number Sign 274600 PENDRED SYNDROME; PDS DEAFNESS WITH GOITER;; GOITER-DEAFNESS SYNDROME;; THYROID DYSHORMONOGENESIS 2B; TDH2B;; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B
Number Sign 274700 THYROID DYSHORMONOGENESIS 3; TDH3 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3
Number Sign 274800 THYROID DYSHORMONOGENESIS 4; TDH4 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 4;; IODOTYROSINE DEHALOGENASE DEFICIENCY;; DEIODINASE DEFICIENCY
Number Sign 274900 THYROID DYSHORMONOGENESIS 5; TDH5 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 5;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5
Percent 275000 GRAVES DISEASE, SUSCEPTIBILITY TO, 1; GRD1 GRD;; THYROTOXICOSIS;; HYPERTHYROIDISM, AUTOIMMUNE
Number Sign 275100 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4 THYROTROPIN DEFICIENCY, ISOLATED;; THYROID-STIMULATING HORMONE DEFICIENCY;; TSH DEFICIENCY;; PITUITARY CRETINISM THYROTROPIN, BIOLOGICALLY INACTIVE, INCLUDED
Percent 275120 THYROTROPIN-RELEASING HORMONE DEFICIENCY TRH DEFICIENCY;; HYPOTHALAMIC HYPOTHYROIDISM
NULL 275190 TIGLIC ACIDEMIA
Number Sign 275200 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 THYROTROPIN RESISTANCE;; THYROID-STIMULATING HORMONE, RESISTANCE TO; RTSH;; TSH RESISTANCE;; HYPOTHYROIDISM, NONAUTOIMMUNE;; HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE;; HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN
Number Sign 275210 RESTRICTIVE DERMOPATHY, LETHAL TIGHT SKIN CONTRACTURE SYNDROME, LETHAL;; HYPERKERATOSIS-CONTRACTURE SYNDROME;; FETAL HYPOKINESIA SEQUENCE DUE TO RESTRICTIVE DERMOPATHY
NULL 275220 TIBIAL HEMIMELIA THM;; TIBIA, ABSENCE OF
NULL 275230 TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS
NULL 275240 TINEA IMBRICATA, SUSCEPTIBILITY TO
Percent 275250 TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF
NULL 275300 TRACHEOBRONCHOMEGALY
Number Sign 275350 TRANSCOBALAMIN II DEFICIENCY TC II DEFICIENCY;; TCN2 DEFICIENCY
Number Sign 275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC
Asterisk 275360 TREHALASE; TREH ALPHA,ALPHA-TREHALOSE-1-D-GLUCOHYDROLASE
Percent 275370 TRICARBOXYLIC ACID CYCLE, DEFECT OF
Number Sign 275400 OLIVER-MCFARLANE SYNDROME; OMCS TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION OF RETINA;; EYELASHES, LONG, WITH MENTAL RETARDATION
NULL 275450 TRICHOODONTOONYCHIAL DYSPLASIA WITH BONE DEFICIENCY
Caret 275500 MOVED TO 190350
Caret 275550 MOVED TO 234050
NULL 275595 TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET
Caret 275600 REMOVED FROM DATABASE
Number Sign 275630 CHANARIN-DORFMAN SYNDROME; CDS NEUTRAL LIPID STORAGE DISEASE WITH ICHTHYOSIS; NLSDI;; TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION;; ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE;; DORFMAN-CHANARIN SYNDROME; DCS;; CHANARIN-DORFMAN DISEASE;; ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION
Caret 275650 MOVED TO 214950
Number Sign 275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 TROYER SYNDROME;; SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTING;; SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, TROYER TYPE
Asterisk 276000 PROTEASE, SERINE, 1; PRSS1 TRYPSINOGEN 1; TRY1;; TRYPSINOGEN, CATIONIC TRYPSIN 1, INCLUDED
Percent 276100 TRYPTOPHANURIA WITH DWARFISM
NULL 276200 T-SUBSTANCE ANOMALY
Number Sign 276300 MISMATCH REPAIR CANCER SYNDROME; MMRCS CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME; CMMRDS;; MISMATCH REPAIR DEFICIENCY;; MMR DEFICIENCY;; CHILDHOOD CANCER SYNDROME;; BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTPS1;; BTP1 SYNDROME;; TURCOT SYNDROME
Percent 276400 TWINNING, DIZYGOTIC OVARIAN RESPONSE TO FSH STIMULATION, INCLUDED
NULL 276410 TWINNING, MONOZYGOTIC
Caret 276500 MOVED TO 276710
Number Sign 276600 TYROSINEMIA, TYPE II; TYRSN2 RICHNER-HANHART SYNDROME;; TYROSINE AMINOTRANSFERASE DEFICIENCY;; TAT DEFICIENCY;; TYROSINE TRANSAMINASE DEFICIENCY;; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY;; OREGON TYPE TYROSINEMIA;; TYROSINOSIS, OCULOCUTANEOUS TYPE
Number Sign 276700 TYROSINEMIA, TYPE I; TYRSN1 HEPATORENAL TYROSINEMIA;; FUMARYLACETOACETASE DEFICIENCY;; FAH DEFICIENCY
Number Sign 276710 TYROSINEMIA, TYPE III; TYRSN3 4-HYDROXYPHENYLPYRUVIC ACID OXIDASE DEFICIENCY;; 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE DEFICIENCY
NULL 276800 TYROSINOSIS
Number Sign 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME; LPHAS;; AL-AWADI/RAAS-ROTHSCHILD SYNDROME; AARRS;; SCHINZEL PHOCOMELIA SYNDROME
NULL 276821 ULNAR HYPOPLASIA WITH MENTAL RETARDATION MESOMELIA OF THE UPPER LIMBS, ANONYCHIA CONGENITA, CLUBFEET, AND MENTAL RETARDATION
NULL 276822 ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS
Caret 276850 MOVED TO 274150
Number Sign 276880 UROCANASE DEFICIENCY; UROCD
Number Sign 276900 USHER SYNDROME, TYPE I; USH1 US1;; RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS USHER SYNDROME, TYPE IB, INCLUDED; USH1B, INCLUDED;; USHER SYNDROME, TYPE IA, FORMERLY, INCLUDED; USH1A, FORMERLY, INCLUDED;; USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY, INCLUDED
Number Sign 276901 USHER SYNDROME, TYPE IIA; USH2A
Number Sign 276902 USHER SYNDROME, TYPE IIIA; USH3A USHER SYNDROME, TYPE III; USH3
Asterisk 276903 MYOSIN VIIA; MYO7A MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A
Number Sign 276904 USHER SYNDROME, TYPE IC; USH1C USHER SYNDROME, TYPE I, ACADIAN VARIETY
Caret 276905 MOVED TO 605472
Number Sign 276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS VACTERL-H VATER ASSOCIATION WITH HYDROCEPHALUS, INCLUDED;; VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, INCLUDED
Percent 277000 MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME MRKH SYNDROME;; MULLERIAN APLASIA/DYSGENESIS;; VON MAYER-ROKITANSKY-KUSTER ANOMALY;; MRKH ANOMALY;; MRK ANOMALY;; UTERUS BIPARTITUS SOLIDUS RUDIMENTARIUS CUM VAGINA SOLIDA;; CONGENITAL ABSENCE OF UTERUS AND VAGINA; CAUV UROGENITAL ADYSPLASIA, INCLUDED
Percent 277100 VALINEMIA VALINE TRANSAMINASE DEFICIENCY;; HYPERVALINEMIA
Percent 277150 VAN BOGAERT-HOZAY SYNDROME
Number Sign 277170 OROFACIODIGITAL SYNDROME VI; OFD6 ORAL-FACIAL-DIGITAL SYNDROME, TYPE VI;; OFDS VI;; VARADI-PAPP SYNDROME;; VARADI SYNDROME;; POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION
NULL 277175 VASCULAR HYALINOSIS
Number Sign 277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD CAVD
NULL 277200 RIGHT VENTRICULAR HYPOPLASIA, ISOLATED IRVH
Number Sign 277300 SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1 VERTEBRAL ANOMALIES;; JARCHO-LEVIN SYNDROME;; SPONDYLOTHORACIC DYSPLASIA;; COSTOVERTEBRAL DYSPLASIA;; SPONDYLOTHORACIC DYSOSTOSIS
Percent 277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA INTESTINAL PSEUDOOBSTRUCTION WITH EXTERNAL OPHTHALMOPLEGIA;; MUSCULAR DYSTROPHY, OCULOGASTROINTESTINAL
Percent 277350 HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL RECESSIVE
Number Sign 277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE; MAHCF METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE;; METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT;; VITAMIN B12 LYSOSOMAL RELEASE DEFECT;; COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF;; VITAMIN B12 STORAGE DISEASE;; COBALAMIN F DISEASE; cblF
Number Sign 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; MAHCC METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblC TYPE;; METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, VITAMIN B12-RESPONSIVE;; VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF METHYLMALONYL-CoA MUTASE AND HOMOCYSTEINE:METHYLTETRAHYDROFOLATE METHYLTRANSFERASE METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC, INCLUDED
Number Sign 277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE;; METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY;; METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY HOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDED;; METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2, INCLUDED
Caret 277420 MOVED TO 277440
Number Sign 277440 VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA;; RICKETS, HEREDITARY VITAMIN D-RESISTANT; HVDRR;; GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D;; VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL;; PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA;; PDDR IIA;; HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS;; RICKETS-ALOPECIA SYNDROME
Number Sign 277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1; VKCFD1 VKCFD;; VITAMIN K-DEPENDENT COAGULATION DEFECT;; FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III;; FMFD III;; MULTIPLE COAGULATION FACTOR DEFICIENCY III; MCFD3;; FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF;; GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF
Number Sign 277460 VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED ATAXIA, FRIEDREICH-LIKE, WITH SELECTIVE VITAMIN E DEFICIENCY; AVED;; FRIEDREICH-LIKE ATAXIA
NULL 277465 VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION
Number Sign 277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A PCH2;; PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY;; VOLENDAM NEURODEGENERATIVE DISEASE
Number Sign 277480 VON WILLEBRAND DISEASE, TYPE 3; VWD3 VON WILLEBRAND DISEASE, TYPE III;; VWD, TYPE 3
Number Sign 277580 WAARDENBURG SYNDROME, TYPE 4A; WS4A WAARDENBURG SYNDROME, TYPE IVA;; WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A;; WAARDENBURG-SHAH SYNDROME;; SHAH-WAARDENBURG SYNDROME;; WS4
Number Sign 277590 WEAVER SYNDROME; WVS WEAVER-SMITH SYNDROME; WSS WEAVER-LIKE SYNDROME, INCLUDED
Number Sign 277600 WEILL-MARCHESANI SYNDROME 1; WMS1 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE;; SPHEROPHAKIA-BRACHYMORPHIA SYNDROME;; MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL
Caret 277610 MOVED TO 184840
Number Sign 277700 WERNER SYNDROME; WRN
Percent 277720 WHISTLING FACE SYNDROME, RECESSIVE FORM
Percent 277730 WERNICKE-KORSAKOFF SYNDROME TRANSKETOLASE DEFECT;; ALCOHOL-INDUCED ENCEPHALOPATHY
NULL 277740 WHITE FORELOCK WITH MALFORMATIONS
Number Sign 277900 WILSON DISEASE WND; WD;; HEPATOLENTICULAR DEGENERATION
Number Sign 277950 WINCHESTER SYNDROME; WNCHRS
Caret 277970 MOVED TO 614493
NULL 277990 WOLFF MENTAL RETARDATION SYNDROME
Number Sign 278000 LYSOSOMAL ACID LIPASE DEFICIENCY CHOLESTERYL ESTER STORAGE DISEASE; CESD;; LIPA DEFICIENCY;; LAL DEFICIENCY;; CHOLESTEROL ESTER HYDROLASE DEFICIENCY WOLMAN DISEASE, INCLUDED
NULL 278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS
Number Sign 278150 HYPOTRICHOSIS 8; HYPT8 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3; LAH3 WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS, INCLUDED; ARWH1, INCLUDED
NULL 278200 WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS SALAMON SYNDROME
Caret 278205 MOVED TO 601214
Number Sign 278250 WRINKLY SKIN SYNDROME; WSS
Number Sign 278300 XANTHINURIA, TYPE I; XAN1 XANTHINE DEHYDROGENASE DEFICIENCY;; XDH DEFICIENCY;; XANTHINE OXIDASE DEFICIENCY
Caret 278400 MOVED TO 203290
Caret 278600 MOVED TO 236800
Number Sign 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA XP, GROUP A;; XERODERMA PIGMENTOSUM I; XP1
Number Sign 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC XPCC;; XP, GROUP C;; XERODERMA PIGMENTOSUM III; XP3
Number Sign 278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD XP, GROUP D; XPDC;; XERODERMA PIGMENTOSUM IV;; XP4 XERODERMA PIGMENTOSUM VIII, FORMERLY; XP8, FORMERLY;; XP, GROUP H, FORMERLY; XPH, FORMERLY
Number Sign 278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E XPE;; XP, GROUP E;; XERODERMA PIGMENTOSUM V; XP5
Number Sign 278750 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES;; PHOTOSENSITIVITY WITH DEFECTIVE DNA SYNTHESIS
Number Sign 278760 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF XP, GROUP F;; XERODERMA PIGMENTOSUM VI; XP6 XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, INCLUDED; XPF/CS, INCLUDED
Number Sign 278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG XP, GROUP G; XPGC;; XERODERMA PIGMENTOSUM VII; XP7 XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED; XPG/CS, INCLUDED
Number Sign 278800 DE SANCTIS-CACCHIONE SYNDROME
Caret 278810 MOVED TO 278720
Number Sign 278850 46,XX SEX REVERSAL 2; SRXX2 CHROMOSOME 17q24 DUPLICATION SYNDROME
NULL 278900 XYLOSIDASE DEFICIENCY
Percent 279000 YOUNG SYNDROME AZOOSPERMIA, OBSTRUCTIVE, AND CHRONIC SINOPULMONARY INFECTIONS;; SINUSITIS-INFERTILITY SYNDROME;; BARRY-PERKINS-YOUNG SYNDROME
Number Sign 280000 COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME; CHIME CHIME SYNDROME;; ZUNICH NEUROECTODERMAL SYNDROME;; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5; GPIBD5
Number Sign 300000 OPITZ GBBB SYNDROME, TYPE I; GBBB1 OPITZ GBBB SYNDROME, X-LINKED;; OPITZ SYNDROME; OS;; OPITZ SYNDROME, X-LINKED; OSX;; OPITZ-G SYNDROME, TYPE I; OGS1;; OPITZ BBBG SYNDROME, TYPE I; BBBG1;; HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS;; HYPERTELORISM-HYPOSPADIAS SYNDROME;; TELECANTHUS-HYPOSPADIAS SYNDROME
Percent 300001 ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY
Asterisk 300002 ARYLSULFATASE D; ARSD
Asterisk 300003 ARYLSULFATASE F; ARSF
Number Sign 300004 CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA ACC WITH ABNORMAL GENITALIA;; PROUD SYNDROME
Asterisk 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2
Asterisk 300006 CENTRIN 2; CETN2 CENTRIN, EF-HAND PROTEIN, 2;; CALTRACTIN; CALT
Asterisk 300007 INTERLEUKIN 9 RECEPTOR; IL9R
Asterisk 300008 CHLORIDE CHANNEL 5; CLCN5 CHLORIDE CHANNEL, VOLTAGE-GATED, K2; CLCK2;; CLC5
Number Sign 300009 DENT DISEASE 1 NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED;; UROLITHIASIS, HYPERCALCIURIC, X-LINKED;; NEPHROLITHIASIS 2; NPHL2
Asterisk 300010 A-11 GENE; A11 DXS435E
Asterisk 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A
Asterisk 300012 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 1; SMARCA1 SUCROSE NONFERMENTING, YEAST, HOMOLOG-LIKE 1; SNF2L1;; SNF2-LIKE 1
Asterisk 300013 N-ALPHA-ACETYLTRANSFERASE 10, NatA CATALYTIC SUBUNIT; NAA10 ARD1 N-ACETYLTRANSFERASE, S. CEREVISIAE, HOMOLOG OF, A; ARD1A;; ARREST-DEFECTIVE PROTEIN 1; ARD1;; TE2
Asterisk 300014 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 3; ATP2B3 PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 3; PMCA3
Asterisk 300015 ACETYLSEROTONIN METHYLTRANSFERASE, X-CHROMOSOMAL; ASMT HYDROXYINDOLE-O-METHYLTRANSFERASE, X-CHROMOSOMAL; HIOMT
Asterisk 300016 MELANOMA ANTIGEN, FAMILY A, 1; MAGEA1 MELANOMA-ASSOCIATED ANTIGEN 1; MAGE1;; MELANOMA-ASSOCIATED ANTIGEN MZ2-E
Asterisk 300017 FILAMIN A; FLNA FILAMIN, ALPHA;; FILAMIN 1; FLN1;; FLN;; ACTIN-BINDING PROTEIN 280; ABP280
Number Sign 300018 46,XY SEX REVERSAL 2; SRXY2 46,XY SEX REVERSAL, DAX1-RELATED;; DOSAGE-SENSITIVE SEX REVERSAL; DSS
Asterisk 300019 HOST CELL FACTOR C1; HCFC1 HCF1;; VP16 ACCESSORY PROTEIN
Caret 300020 MOVED TO 102610
Caret 300021 MOVED TO 301830
Asterisk 300022 PLEXIN A3; PLXNA3 PLEXIN 4; PLXN4;; TRANSMEMBRANE PROTEIN SEX; SEX
Asterisk 300023 RHO GTPase-ACTIVATING PROTEIN 4; ARHGAP4 RHO GAP HEMATOPOIETIC PROTEIN C1; RGC1;; GTPase-ACTIVATING PROTEIN, RHO, 4; RHOGAP4
Asterisk 300024 ZINC FINGER PROTEIN 157; ZNF157
Asterisk 300025 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 4; CDX4
Asterisk 300026 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 2; NAP1L2 BRAIN SPECIFIC GENE BPX; BPX
Asterisk 300027 RNA-BINDING MOTIF PROTEIN 3; RBM3
Asterisk 300028 ZINC FINGER-, CCCH DOMAIN-, AND RNA-BINDING MOTIF-CONTAINING SERINE/ARGININE-RICH PROTEIN 2; ZRSR2 U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, SMALL SUBUNIT 2; U2AF1RS2
Number Sign 300029 RETINITIS PIGMENTOSA 3; RP3 RETINITIS PIGMENTOSA 15; RP15;; CONE-ROD DEGENERATION, X-LINKED;; CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN
Percent 300030 DEAFNESS, X-LINKED 3; DFNX3 DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4
Asterisk 300031 FAMILY WITH SEQUENCE SIMILARITY 11, MEMBER A; FAM11A FRAGILE SITE, FOLIC ACID TYPE, FRA(X)(q28) F, INCLUDED; FRAXF, INCLUDED
Asterisk 300032 ATR-X GENE; ATRX HELICASE 2, X-LINKED; XH2;; X-LINKED NUCLEAR PROTEIN GENE; XNP
Asterisk 300033 FORKHEAD BOX O4; FOXO4 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7; MLLT7;; MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7;; ALL1-FUSED GENE FROM X CHROMOSOME; AFX1
Asterisk 300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2
Asterisk 300035 EPHRIN B1; EFNB1 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 2; EPLG2;; LIGAND OF EPH-RELATED KINASE 2; LERK2;; EFL3;; ELK LIGAND; ELKL
Asterisk 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8 CREATINE TRANSPORTER; CT1; CRTR; CRT
Asterisk 300037 GLYPICAN 3; GPC3 OCI-5, RAT, HOMOLOG OF
Asterisk 300038 PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 4; P2RY4 P2Y4;; NUCLEOTIDE RECEPTOR, URIDINE; NRU; UNR
Asterisk 300039 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4; POU3F4 BRAIN-4; BRN4
Asterisk 300040 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; SMC1A SMC1-ALPHA;; STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 1; SMC1L1;; SMC1;; DXS423E;; KIAA0178
Asterisk 300041 GUANYLATE CYCLASE 2F, RETINAL; GUCY2F GUANYLYL CYCLASE 2F, RETINAL;; GC-F;; RETGC2
NULL 300042 ALOPECIA, CONGENITAL; ALPC
Caret 300043 MOVED TO 611663
Asterisk 300044 TRANSKETOLASE-LIKE 1; TKTL1 TRANSKETOLASE 2; TKT2;; TRANSKETOLASE-RELATED GENE; TKR
Caret 300045 MOVED TO 602081
Percent 300046 MENTAL RETARDATION, X-LINKED 23; MRX23
Percent 300047 MENTAL RETARDATION, X-LINKED 20; MRX20
Number Sign 300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED IPOX;; CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; CIIP;; CIIP, X-LINKED; CIIPX;; INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT CONGENITAL SHORT BOWEL SYNDROME, X-LINKED, INCLUDED
Number Sign 300049 PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT;; HETEROTOPIA, FAMILIAL NODULAR;; NODULAR HETEROTOPIA, BILATERAL PERIVENTRICULAR; NHBP; BPNH;; HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT;; PERIVENTRICULAR NODULAR HETEROTOPIA 4, FORMERLY; PVNH4, FORMERLY HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA, INCLUDED
Asterisk 300050 UBIQUITIN-SPECIFIC PROTEASE 11; USP11 UBIQUITIN CARBOXYL-TERMINAL HYDROLASE, X-LINKED; UHX1
Asterisk 300051 GLYCOPROTEIN M6B; GPM6B NEURONAL MEMBRANE GLYCOPROTEIN M6B
Asterisk 300052 DYSTROPHIN-RELATED PROTEIN 2; DRP2
Asterisk 300053 VESICLE-ASSOCIATED MEMBRANE PROTEIN 7: VAMP7 SYNAPTOBREVIN-LIKE 1; SYBL1;; TETANUS NEUROTOXIN-INSENSITIVE VAMP; TIVAMP
NULL 300054 BODY LENGTH, MOUSE, HUMAN HOMOLOG
Number Sign 300055 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13 MENTAL RETARDATION, X-LINKED 79; MRX79;; MENTAL RETARDATION, X-LINKED 16; MRX16;; MENTAL RETARDATION, X-LINKED, WITH SPASTICITY;; MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM; PPMX
Asterisk 300056 HOLOCYTOCHROME C SYNTHASE; HCCS
Caret 300057 MOVED TO 601324
Caret 300058 MOVED TO 300446
Asterisk 300059 TRANSMEMBRANE PROTEIN 187; TMEM187 CHROMOSOME X OPEN READING FRAME 12; CXORF12;; DXS9878E;; ITBA1 GENE
Asterisk 300060 L ANTIGEN FAMILY, MEMBER 3; LAGE3 ITBA2 GENE;; DXS9879E
Asterisk 300061 ZINC FINGER, MYM-TYPE 3; ZMYM3 ZINC FINGER PROTEIN 261; ZNF261;; DXS6673E
Percent 300062 MENTAL RETARDATION, X-LINKED 14; MRX14
Caret 300063 MOVED TO 304930
NULL 300064 MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISM MENTAL RETARDATION, X-LINKED, HYDE-FORSTER TYPE
Asterisk 300065 CENTROMERIC PROTEIN I; CENPI FSH PRIMARY RESPONSE, RAT, HOMOLOG OF, 1; FSHPRH1;; LEUCINE-RICH PRIMARY RESPONSE GENE 1; LRPR1;; MIS6
Number Sign 300066 DEAFNESS, X-LINKED 4; DFNX4 DEAFNESS, X-LINKED 6, PROGRESSIVE; DFN6;; DEAFNESS, NONSYNDROMIC SENSORINEURAL PROGRESSIVE 6
Number Sign 300067 LISSENCEPHALY, X-LINKED, 1; LISX1 XLIS;; LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED; SCLH, INCLUDED;; SUBCORTICAL BAND HETEROTOPIA, X-LINKED, INCLUDED; SBH, INCLUDED;; DOUBLE CORTEX SYNDROME, INCLUDED;; DC SYNDROME, INCLUDED
Number Sign 300068 ANDROGEN INSENSITIVITY SYNDROME; AIS TESTICULAR FEMINIZATION SYNDROME; TFM;; ANDROGEN RECEPTOR DEFICIENCY;; AR DEFICIENCY;; DIHYDROTESTOSTERONE RECEPTOR DEFICIENCY;; DHTR DEFICIENCY
Caret 300069 MOVED TO 302060
Asterisk 300070 FIBROBLAST GROWTH FACTOR 13; FGF13 FIBROBLAST GROWTH FACTOR HOMOLOGOUS FACTOR 2; FHF2
Number Sign 300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A CSNB, INCOMPLETE, X-LINKED;; NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2; CSNB2
Asterisk 300072 UBIQUITIN-SPECIFIC PROTEASE 9, X-LINKED; USP9X DROSOPHILA FAT FACETS-RELATED, X-LINKED; DFFRX;; FAM
NULL 300073 FETAL AKINESIA SYNDROME, X-LINKED
Asterisk 300074 X CHROMOSOME-CONTROLLING ELEMENT; XCE X INACTIVATION INTERGENIC TRANSCRIPTION ELEMENT; XITE;; XCA
Asterisk 300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3 RIBOSOMAL S6 KINASE 2; RSK2;; MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 1B; MAPKAPK1B;; MAPKAP KINASE 1B;; ISPK1
Percent 300076 IMMUNONEUROLOGIC DISORDER, X-LINKED WOODS-BLACK-NORBURY SYNDROME
Caret 300077 MOVED TO 300419
Asterisk 300078 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 1; NDUFA1 MWFE, B. TAURUS, HOMOLOG OF
Asterisk 300079 INHIBITOR OF APOPTOSIS, X-LINKED; XIAP BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4;; APOPTOSIS INHIBITOR 3; API3;; IAP-LIKE PROTEIN; ILP;; MAMMALIAN IAP HOMOLOG A; MIHA
Asterisk 300080 RNA-BINDING MOTIF PROTEIN 10; RBM10 RNA-BINDING PROTEIN S1-1, RAT, HOMOLOG OF;; DXS8237E
Asterisk 300081 DEOXYRIBONUCLEASE I-LIKE 1; DNASE1L1 DNase I, LYSOSOMAL-LIKE; DNL1L;; DNase I-LIKE, MUSCLE-SPECIFIC
Percent 300082 COGNITIVE FUNCTION 1, SOCIAL; CGF1 SOCIAL COGNITION
Asterisk 300083 PROTEIN KINASE, X-LINKED; PRKX PROTEIN KINASE PKX1; PKX1
Asterisk 300084 NON-POU DOMAIN-CONTAINING OCTAMER-BINDING PROTEIN; NONO NUCLEAR RNA-BINDING PROTEIN, 54-KD; NRB54;; p54NRB;; p54(NRB) NONO/TFE3 FUSION GENE, INCLUDED
Percent 300085 CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2 CONE DYSTROPHY 2, X-LINKED; COD2
Asterisk 300086 LYSOPHOSPHATIDIC ACID RECEPTOR 4; LPAR4 LPA4;; P2Y5-LIKE RECEPTOR;; PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 9; P2RY9; P2Y9;; G PROTEIN-COUPLED RECEPTOR 23; GPR23
Number Sign 300087 X INACTIVATION, FAMILIAL SKEWED, 1; SXI1
Number Sign 300088 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9 EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; EFMR;; JUBERG-HELLMAN SYNDROME
Asterisk 300089 ISOCITRATE DEHYDROGENASE 3, GAMMA SUBUNIT; IDH3G ISOCITRATE DEHYDROGENASE, NAD(+)-SPECIFIC, MITOCHONDRIAL, GAMMA SUBUNIT
Asterisk 300090 SIGNAL SEQUENCE RECEPTOR, DELTA; SSR4 TRANSLOCON-ASSOCIATED PROTEIN, DELTA SUBUNIT; TRAPD
Asterisk 300091 FOS-INDUCED GROWTH FACTOR; FIGF VASCULAR ENDOTHELIAL GROWTH FACTOR D; VEGFD
Asterisk 300092 TESTIS-EXPRESSED GENE 28; TEX28 CHROMOSOME X OPEN READING FRAME 2; CXORF2
Asterisk 300093 GAMMA-AMINOBUTYRIC ACID RECEPTOR, EPSILON; GABRE GABA-A RECEPTOR, EPSILON POLYPEPTIDE
Caret 300094 MOVED TO 600539
Asterisk 300095 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 2; SLC16A2 MONOCARBOXYLATE TRANSPORTER 8; MCT8;; X-LINKED PEST-CONTAINING TRANSPORTER; XPCT;; DXS128E
Asterisk 300096 TETRASPANIN 7; TSPAN7 MEMBRANE COMPONENT, X CHROMOSOME, SURFACE MARKER 1; MXS1;; TRANSMEMBRANE PROTEIN A15;; TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 2; TM4SF2
Asterisk 300097 MELANOMA ANTIGEN, FAMILY B, 1; MAGEB1 MAGE-LIKE GENE ON Xp; MAGEL1;; DSS/AHC CRITICAL INTERVAL GENE, FROM MAGE SUPERFAMILY, 10; DAM10
Asterisk 300098 MELANOMA ANTIGEN, FAMILY B, 2; MAGEB2 DSS/AHC CRITICAL INTERVAL GENE, FROM MAGE SUPERFAMILY, 6; DAM6
Caret 300099 MOVED TO 300097
Number Sign 300100 ADRENOLEUKODYSTROPHY; ALD ADDISON DISEASE AND CEREBRAL SCLEROSIS;; SIEMERLING-CREUTZFELDT DISEASE;; BRONZE SCHILDER DISEASE;; MELANODERMIC LEUKODYSTROPHY ADRENOMYELONEUROPATHY, INCLUDED; AMN, INCLUDED
Asterisk 300101 BONE MARROW KINASE, X-LINKED; BMX PROTEIN TYROSINE KINASE BMX
Asterisk 300102 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 4; PNPLA4 GS2 GENE; GS2;; PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, ETA;; IPLA2-ETA;; DXS1283E
Asterisk 300103 SHROOM FAMILY MEMBER 2; SHROOM2 APICAL PROTEIN OF XENOPUS-LIKE; APXL
Asterisk 300104 GDP DISSOCIATION INHIBITOR 1; GDI1 RAB GDP-DISSOCIATION INHIBITOR, ALPHA; RABGDIA;; RAB GDI-ALPHA;; RHOGDI;; OLIGOPHRENIN 2; OPHN2
Asterisk 300105 SPERMINE SYNTHASE; SMS
Number Sign 300106 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED; SEMDX SEMD, X-LINKED
Asterisk 300107 BOMBESIN-LIKE RECEPTOR 3; BRS3 BOMBESIN RECEPTOR SUBTYPE 3
Asterisk 300108 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 2; DIAPH2 DIA;; DIA2
Asterisk 300109 PROTEIN PHOSPHATASE, EF-HAND CALCIUM-BINDING DOMAIN 1; PPEF1 PROTEIN PHOSPHATASE, SERINE/THREONINE TYPE, WITH EF-HAND MOTIFS
Asterisk 300110 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F
Asterisk 300111 PRICKLE, DROSOPHILA, HOMOLOG OF, 3; PRICKLE3 PRICKLE-LIKE 3;; LIM DOMAIN ONLY 6; LMO6
Asterisk 300112 PROTEOLIPID PROTEIN 2; PLP2 PROTEOLIPID PROTEIN, COLONIC EPITHELIUM-ENRICHED;; DIFFERENTIATION-DEPENDENT PROTEIN A4; A4
NULL 300113 X-LINKED B CELL SURFACE ANTIGEN, MOUSE, HOMOLOG-LIKE 1; XLRL
Number Sign 300114 MENTAL RETARDATION, X-LINKED 49; MRX49 MENTAL RETARDATION, X-LINKED 15; MRX15
Percent 300115 MENTAL RETARDATION, X-LINKED 50; MRX50
Asterisk 300116 MATURE T-CELL PROLIFERATION 1; MTCP1 C6.1B;; p13
Asterisk 300117 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 3; NAP1L3
Asterisk 300118 RHO GTPase-ACTIVATING PROTEIN 6; ARHGAP6 GTPase-ACTIVATING PROTEIN, RHO, 6; RHOGAP6
Asterisk 300119 INTERLEUKIN 13 RECEPTOR, ALPHA-1; IL13RA1 INTERLEUKIN 13 RECEPTOR, ALPHA; IL13RA;; NR4, MOUSE, HOMOLOG OF
Asterisk 300120 MASTERMIND-LIKE DOMAIN-CONTAINING PROTEIN 1; MAMLD1 CHROMOSOME X OPEN READING FRAME 6; CXORF6;; F18 GENE; F18
Asterisk 300121 DOUBLECORTIN; DCX DBCN
Caret 300122 MOVED TO 300000
Number Sign 300123 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY, INCLUDED; MRGH, INCLUDED
Asterisk 300124 GTP-BINDING PROTEIN 6; GTPBP6 PSEUDOAUTOSOMAL GTP-BINDING PROTEIN-LIKE; PGPL
Percent 300125 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 2 MGR2;; MFTS
Asterisk 300126 DYSKERIN; DKC1 NOPP140-ASSOCIATED PROTEIN, 57-KD; NAP57
Asterisk 300127 OLIGOPHRENIN 1; OPHN1 OPN1
Asterisk 300128 LYSINE-SPECIFIC DEMETHYLASE 6A; KDM6A UBIQUITOUSLY TRANSCRIBED TETRATRICOPEPTIDE REPEAT GENE ON X CHROMOSOME; UTX
NULL 300129 HEMATOPOIETIC STEM CELL KINETICS, CONTROL OF
Asterisk 300130 INTERLEUKIN 13 RECEPTOR, ALPHA-2; IL13RA2
Asterisk 300131 PLASTIN 3; PLS3 T-PLASTIN
Asterisk 300132 TROPHININ; TRO MELANOMA ANTIGEN, FAMILY D, 3; MAGED3
Asterisk 300133 VON HIPPEL-LINDAU BINDING PROTEIN 1; VBP1 PREFOLDIN 3; PFDN3
Asterisk 300134 DUAL-SPECIFICITY PHOSPHATASE 9; DUSP9 MAP KINASE PHOSPHATASE 4; MKP4
Asterisk 300135 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7; ABCB7 ATP-BINDING CASSETTE 7; ABC7;; ATP-BINDING CASSETTE TRANSPORTER 7;; ABC TRANSPORTER 7
Percent 300136 DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO IDDMX;; INSULIN-DEPENDENT DIABETES MELLITUS, X-LINKED, SUSCEPTIBILITY TO
Asterisk 300137 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 1; IGSF1 IMMUNOGLOBULIN-LIKE DOMAIN-CONTAINING 1; IGDC1;; INHIBIN-BINDING PROTEIN; INHBP
Asterisk 300138 CHLORIDE INTRACELLULAR CHANNEL 2; CLIC2 XAP121
Asterisk 300139 IMMUNOGLOBULIN-BINDING PROTEIN 1; IGBP1 PROTEIN PHOSPHATASE 2A, REGULATORY SUBUNIT ALPHA-4;; ALPHA-4
Caret 300140 MOVED TO 600655
Caret 300141 MOVED TO 612725
Asterisk 300142 p21 PROTEIN-ACTIVATED KINASE 3; PAK3 p21 CDC42/RAC1-ACTIVATED KINASE 3;; OLIGOPHRENIN 3; OPHN3
Number Sign 300143 MENTAL RETARDATION, X-LINKED 21; MRX21 MENTAL RETARDATION, X-LINKED 34; MRX34
Asterisk 300144 GLUTAMATE DEHYDROGENASE 2; GLUD2
Asterisk 300145 X-PROLYL AMINOPEPTIDASE 2; XPNPEP2 X-PROLYL AMINOPEPTIDASE, MEMBRANE-BOUND;; AMINOPEPTIDASE P, 2; APP2
Asterisk 300146 CALPAIN 6; CAPN6
Percent 300147 PROSTATE CANCER, HEREDITARY, X-LINKED 1; HPCX1 PROSTATE CANCER SUSCEPTIBILITY, X-LINKED; PCSX
Number Sign 300148 MEHMO SYNDROME; MEHMO MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 20; MRXS20;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 25; MRXS25;; MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE; MRXSBRK
Asterisk 300149 CBP/p300-INTERACTING TRANSACTIVATOR WITH GLU/ASP-RICH C-TERMINAL DOMAIN, 1; CITED1 MELANOCYTE-SPECIFIC GENE 1; MSG1
Asterisk 300150 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER A5; SLC25A5 ADENINE NUCLEOTIDE TRANSLOCATOR 2; ANT2;; ADP/ATP TRANSLOCATOR OF FIBROBLASTS;; ADP/ATP TRANSLOCASE 2;; ADP/ATP CARRIER 2; AAC2
Asterisk 300151 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER A6; SLC25A6 ADENINE NUCLEOTIDE TRANSLOCATOR 3; ANT3;; ADP/ATP TRANSLOCATOR OF LIVER;; ADP/ATP TRANSLOCASE 3;; ADP/ATP CARRIER 3; AAC3
Asterisk 300152 MELANOMA ANTIGEN, FAMILY B, 3; MAGEB3
Asterisk 300153 MELANOMA ANTIGEN, FAMILY B, 4; MAGEB4
Asterisk 300154 ESX1-LIKE PROTEIN; ESX1L EXTRAEMBRYONIC, SPERMATOGENESIS, HOMEOBOX 1-LIKE PROTEIN;; ESX1-RELATED PROTEIN 1; ESXR1
Percent 300155 RETINITIS PIGMENTOSA 24; RP24
Asterisk 300156 CANCER/TESTIS ANTIGEN 1B; CTAG1B CANCER/TESTIS ANTIGEN 1; CTAG1;; CTAG;; NEW YORK ESOPHAGEAL SQUAMOUS CELL CARCINOMA 1; NYESO1;; LAGE2;; LAGE2B;; LAGE2, TELOMERIC COPY
Asterisk 300157 ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 4; ACSL4 FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4;; ACYL-CoA SYNTHETASE 4; ACS4
Percent 300158 ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED; ACLLX ARTHROGRYPOSIS, X-LINKED, TYPE V, FORMERLY; AMCX5, FORMERLY
Asterisk 300159 THYMOSIN, BETA-4, X CHROMOSOME; TMSB4X THYMOSIN, BETA-4; TMSB4;; TB4X;; PROTHYMOSIN BETA-4; PTMB4
Asterisk 300160 DEAD/H BOX 3, X-LINKED; DDX3X DDX3;; DBX
Asterisk 300161 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 3; EIF2S3 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, GAMMA; EIF2G
Asterisk 300162 ACETYLSEROTONIN METHYLTRANSFERASE-LIKE; ASMTL ACETYLSEROTONIN METHYLTRANSFERASE-LIKE, X-LINKED; ASMTLX
Asterisk 300163 FOUR-AND-A-HALF LIM DOMAINS 1; FHL1 SLIM1;; FHL1A;; KYOT, MOUSE, HOMOLOG OF FHL1B, INCLUDED;; SLIMMER, INCLUDED;; FHL1C, INCLUDED
Asterisk 300164 INACTIVATION ESCAPE 1; INE1
Asterisk 300165 INACTIVATION ESCAPE 2; INE2
Number Sign 300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2 OCULOFACIOCARDIODENTAL SYNDROME;; OFCD SYNDROME;; MICROPHTHALMIA, CATARACTS, RADICULOMEGALY, AND SEPTAL HEART DEFECTS;; ANOP2, FORMERLY;; MAA2, FORMERLY
Asterisk 300167 HEPHAESTIN; HEPH
Asterisk 300168 GLYPICAN 4; GPC4
Asterisk 300169 APOPTOSIS-INDUCING FACTOR, MITOCHONDRIA-ASSOCIATED, 1; AIFM1 APOPTOSIS-INDUCING FACTOR; AIF;; PROGRAMMED CELL DEATH 8; PDCD8
Asterisk 300170 OFD1 GENE; OFD1 CHROMOSOME X OPEN READING FRAME 5; CXORF5
Asterisk 300171 MYOTUBULARIN-RELATED PROTEIN 1; MTMR1
Asterisk 300172 CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK VERTEBRATE LIN2 HOMOLOG; LIN2;; CAMGUK, DROSOPHILA, HOMOLOG OF; CMG
Asterisk 300173 MELANOMA ANTIGEN, FAMILY A, 2; MAGEA2 MAGEA2A;; MAGE2
Asterisk 300174 MELANOMA ANTIGEN, FAMILY A, 3; MAGEA3 MAGE3
Asterisk 300175 MELANOMA ANTIGEN, FAMILY A, 4; MAGEA4 MAGE4;; MAGE4a;; MAGE4b
Asterisk 300176 MELANOMA ANTIGEN, FAMILY A, 6; MAGEA6 MAGE6
Asterisk 300177 MELANOMA ANTIGEN, FAMILY A, 12; MAGEA12 MAGE12
Asterisk 300178 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 1; ZBED1 BED-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 1;; AC-LIKE TRANSPOSABLE ELEMENT; ALTE;; TRAMP;; DREF, DROSOPHILA, HOMOLOG OF; DREF;; KIAA0785
Percent 300179 X INACTIVATION, FAMILIAL SKEWED, 2; SXI2
Asterisk 300180 ARYLSULFATASE E; ARSE
Asterisk 300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX XIST-ANTISENSE
Asterisk 300182 MEDIATOR COMPLEX SUBUNIT 14; MED14 COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 2; CRSP2;; CRSP, 150-KD SUBUNIT; CRSP150;; CHROMOSOME X OPEN READING FRAME 4; CXORF4;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN; TRAP170;; EXLM1;; RGR1
Caret 300183 MOVED TO 302060
NULL 300184 HYPOTONIA, CONGENITAL NYSTAGMUS, ATAXIA, AND ABNORMAL AUDITORY BRAINSTEM RESPONSES
Asterisk 300185 A-KINASE ANCHOR PROTEIN 4; AKAP4 A-KINASE ANCHOR PROTEIN, 82-KD; AKAP82;; TESTIS-SPECIFIC GENE HI; HI;; FSC1, MOUSE, HOMOLOG OF
Asterisk 300186 EUKARYOTIC TRANSLATION INITIATION FACTOR 1A, X-LINKED; EIF1AX EUKARYOTIC TRANSLATION INITIATION FACTOR 1A; EIF1A;; EUKARYOTIC TRANSLATION INITIATION FACTOR 4C; EIF4C
Asterisk 300187 SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED; SRPX SRPX1;; ETX1
Asterisk 300188 MEDIATOR COMPLEX SUBUNIT 12; MED12 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE, HOMOLOG OF;; TRINUCLEOTIDE REPEAT-CONTAINING GENE 11; TNRC11;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 230-KD SUBUNIT; TRAP230;; HUMAN OPPOSITE PAIRED GENE; HOPA;; KIAA0192
Asterisk 300189 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 3; DLG3 NEUROENDOCRINE DLG; NEDLG;; SYNAPSE-ASSOCIATED PROTEIN 102; SAP102
Asterisk 300190 SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN-LIKE PROTEIN; SH3BGRL SH3BGR-LIKE PROTEIN
Asterisk 300191 TETRASPANIN 6; TSPAN6 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 6; TM4SF6
Asterisk 300192 SARCOMA, SYNOVIAL, X BREAKPOINT 2; SSX2 SARCOMA, SYNOVIAL, X-CHROMOSOME-RELATED 2 SSX2-SYT FUSION GENE, INCLUDED
Asterisk 300193 HIGH MOBILITY GROUP BOX 3; HMGB3 HIGH MOBILITY GROUP PROTEIN 4; HMG4;; NONHISTONE CHROMOSOMAL PROTEIN HMG4;; CHROMOSOMAL PROTEIN, NONHISTONE, HMG4;; HMG2A
Number Sign 300194 AMME COMPLEX ALPORT SYNDROME, MENTAL RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS;; ATS-MR;; CHROMOSOME Xq22.3 TELOMERIC DELETION SYNDROME
Asterisk 300195 AMME CHROMOSOME REGION GENE 1; AMMECR1
Asterisk 300196 TRANSDUCIN-BETA-LIKE 1, X-LINKED; TBL1X TRANSDUCIN-BETA-LIKE 1; TBL1;; EBI, DROSOPHILA, HOMOLOG OF; EBI
Asterisk 300197 ATPase, H+ TRANSPORTING, LYSOSOMAL, ACCESSORY PROTEIN 1; ATP6AP1 ATP6IP1;; ATP6S1;; VACUOLAR ATPase SUBUNIT 1; VATPS1;; Ac45
Asterisk 300198 GLYCOGENIN 2; GYG2 GN2
Asterisk 300199 RNA-BINDING MOTIF PROTEIN, X CHROMOSOME; RBMX HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN G; HNRNPG RNA-BINDING MOTIF PROTEIN, X CHROMOSOME, RETROGENE, INCLUDED; RBMXRT, INCLUDED;; RNA-BINDING MOTIF PROTEIN, X CHROMOSOME, PSEUDOGENE 1, INCLUDED; RBMXP1, INCLUDED
Number Sign 300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; AHCH;; ADDISON DISEASE, X-LINKED; AHX;; AHC WITH HHG;; CYTOMEGALIC ADRENOCORTICAL HYPOPLASIA;; AHC WITH ISOLATED GONADOTROPIN DEFICIENCY
Asterisk 300201 CYSTEINYL LEUKOTRIENE RECEPTOR 1; CYSLTR1 CYSLT1;; CYSLT1R
Asterisk 300202 TRACKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2; TRAPPC2 SEDLIN; SEDL
Asterisk 300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5 SERINE/THREONINE PROTEIN KINASE 9; STK9
Asterisk 300204 MIDLINE 2; MID2 MIDIN 2
Asterisk 300205 EMOPAMIL-BINDING PROTEIN; EBP 3-BETA-HYDROXYSTEROID-DELTA-8,DELTA-7 ISOMERASE
Asterisk 300206 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1 INTERLEUKIN 1 RECEPTOR 8; IL1R8 IL1RAPL1/DMD FUSION GENE, INCLUDED
Asterisk 300207 G PROTEIN-COUPLED RECEPTOR 50; GPR50 H9
Asterisk 300208 SEX COMB ON MIDLEG, DROSOPHILA, HOMOLOG-LIKE 2; SCML2
Number Sign 300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2
Number Sign 300210 MENTAL RETARDATION, X-LINKED 58; MRX58
Percent 300211 EPISODIC MUSCLE WEAKNESS, X-LINKED; EMWX
Asterisk 300212 REGUCALCIN; RGN SENESCENCE MARKER PROTEIN 30; SMP30
Asterisk 300213 CAAX BOX PROTEIN 1; CXX1
Asterisk 300214 PLEXIN B3; PLXNB3 PLEXIN 6; PLXN6
Number Sign 300215 LISSENCEPHALY, X-LINKED, 2; LISX2 LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA; XLAG;; XLISG HYDRANENCEPHALY AND ABNORMAL GENITALIA, INCLUDED
NULL 300216 COATS DISEASE RETINAL TELANGIECTASIS
Asterisk 300217 RETINOIC ACID-INDUCED 2; RAI2
Percent 300218 MENTAL RETARDATION, X-LINKED, SYNDROMIC 7; MRXS7 AHMAD X-LINKED MENTAL RETARDATION SYNDROME
Number Sign 300219 MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT
Caret 300220 MOVED TO 300438
Percent 300221 LYMPHOMA, HODGKIN, X-LINKED PSEUDOAUTOSOMAL HODGKIN DISEASE, X-LINKED PSEUDOAUTOSOMAL
Asterisk 300222 INTEGRAL MEMBRANE PROTEIN 2A; ITM2A E25A
Asterisk 300223 MELANOMA ANTIGEN, FAMILY C, 1; MAGEC1
Asterisk 300224 MELANOMA ANTIGEN, FAMILY D, 1; MAGED1 NEUROTROPHIN RECEPTOR-INTERACTING MAGE HOMOLOG; NRAGE;; DLXIN1
Asterisk 300225 NADPH OXIDASE 1; NOX1 NADPH OXIDASE HOMOLOG 1; NOH1;; MITOGENIC OXIDASE 1; MOX1;; GP91-2
Asterisk 300226 SMALL MUSCLE PROTEIN, X-LINKED; SMPX CHISEL, MOUSE, HOMOLOG OF; CSL
Asterisk 300227 SEX COMB ON MIDLEG, DROSOPHILA, HOMOLOG-LIKE 1; SCML1
Percent 300228 TESTICULAR GERM CELL TUMOR 1; TGCT1
Asterisk 300229 VARIABLY CHARGED, X CHROMOSOME; VCX VCX1;; VARIABLY CHARGED, X CHROMOSOME, WITH 10 REPEATS; VCX10R;; VARIABLY CHARGED, X CHROMOSOME, B1; VCXB1
Asterisk 300230 CARBONIC ANHYDRASE VB, MITOCHONDRIAL; CA5B CA VB
Asterisk 300231 SOLUTE CARRIER FAMILY 9, MEMBER 6; SLC9A6 SODIUM/HYDROGEN EXCHANGER 6; NHE6
NULL 300232 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION SEMD, X-LINKED, WITH MENTAL DETERIORATION
NULL 300233 RADIOULNAR SYNOSTOSIS, RADIAL RAY ABNORMALITIES, AND SEVERE MALFORMATIONS IN THE MALE
Asterisk 300234 UBIQUITOUSLY EXPRESSED TRANSCRIPT; UXT
Asterisk 300235 ZINC FINGER-ENCODING GENE, X-LINKED, DUPLICATED, A; ZXDA
Asterisk 300236 ZINC FINGER-ENCODING GENE, X-LINKED, DUPLICATED, B; ZXDB
Asterisk 300237 TRANSCRIPTION ELONGATION FACTOR A-LIKE 1; TCEAL1 TCEA-LIKE 1;; p21;; SII-RELATED GENE; SIIR
Number Sign 300238 MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 SHASHI X-LINKED MENTAL RETARDATION SYNDROME; SMRXS;; MENTAL RETARDATION, X-LINKED, SHASHI TYPE
Asterisk 300239 EPIDERMAL GROWTH FACTOR-LIKE 6; EGFL6 EGF-LIKE 6;; MAM- AND EGF-CONTAINING GENE; MAEG
Caret 300240 MOVED TO 305000
Asterisk 300241 G PROTEIN-COUPLED RECEPTOR 34; GPR34
Asterisk 300242 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, BRAIN), MEMBER 14; SLC25A14 BRAIN MITOCHONDRIAL CARRIER PROTEIN 1; BMCP1;; UNCOUPLING PROTEIN 5; UCP5
Number Sign 300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH ANGELMAN-LIKE SYNDROME, X-LINKED;; MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND ATAXIA SYNDROME
Number Sign 300244 TERMINAL OSSEOUS DYSPLASIA; TOD TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS; TODPD;; ODPD;; OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA; ODPF;; ODPF SYNDROME
Percent 300245 PTOSIS, HEREDITARY CONGENITAL 2 PTOS2;; PTOSIS, X-LINKED; PTOSX
Asterisk 300246 PROTOCADHERIN 11, X-LINKED; PCDH11X PROTOCADHERIN, X CHROMOSOME; PCDHX;; PROTOCADHERIN 11, FORMERLY; PCDH11, FORMERLY
Asterisk 300247 BONE MORPHOGENETIC PROTEIN 15; BMP15 GROWTH/DIFFERENTIATION FACTOR 9B; GDF9B
Asterisk 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE OF, GAMMA; IKBKG NF-KAPPA-B ESSENTIAL MODULATOR; NEMO;; IKK-GAMMA;; FIP3
Asterisk 300249 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 17, YEAST, HOMOLOG OF, B; TIMM17B TIM17B
Caret 300250 MOVED TO 202200
Caret 300251 MOVED TO 605875
Asterisk 300252 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 4; PIN4 PARVULIN 14; PAR14;; EPVH
Asterisk 300253 G PROTEIN-COUPLED RECEPTOR 173; GPR173 SUPERCONSERVED RECEPTOR EXPRESSED IN BRAIN 3; SREB3
Asterisk 300254 SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 1; SUV39H1 SU(VAR)3-9, DROSOPHILA, HOMOLOG OF, 1
Asterisk 300255 O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; OGT UDP-N-ACETYLGLUCOSAMINE:POLYPEPTIDE BETA-N-ACETYLGLUCOSAMINYL TRANSFERASE;; GlcNAc TRANSFERASE
Asterisk 300256 17-BETA-HYDROXYSTEROID DEHYDROGENASE X; HSD17B10 HSD10;; HYDROXYACYL-CoA DEHYDROGENASE II; HADH2;; 3-HYDROXYACYL-CoA DEHYDROGENASE II;; AMYLOID BETA-BINDING POLYPEPTIDE ERAB; ERAB;; 2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE; MHBD;; AMYLOID BETA-BINDING ALCOHOL DEHYDROGENASE; ABAD;; 3-HYDROXYACYL-CoA DEHYDROGENASE, SHORT CHAIN; SCHAD;; MITOCHONDRIAL RIBONUCLEASE P PROTEIN 2; MRPP2
Number Sign 300257 DANON DISEASE VACUOLAR CARDIOMYOPATHY AND MYOPATHY, X-LINKED;; PSEUDOGLYCOGENOSIS II;; ANTOPOL DISEASE;; LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY;; GLYCOGEN STORAGE DISEASE IIb; GSD2B, FORMERLY;; GSD IIb, FORMERLY
Caret 300258 MOVED TO 616651
NULL 300259 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED MTBSX
Number Sign 300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL MECP2 DUPLICATION SYNDROME;; MENTAL RETARDATION, X-LINKED, SYNDROMIC, LUBS TYPE;; MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS
Percent 300261 ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME; MRXSA MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARMFIELD TYPE
Percent 300262 ABIDI X-LINKED MENTAL RETARDATION SYNDROME; MRXSAB MENTAL RETARDATION, X-LINKED, SYNDROMIC, ABIDI TYPE
Number Sign 300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD MENTAL RETARDATION, X-LINKED, SYNDROMIC, SIDERIUS TYPE;; SIDERIUS-HAMEL SYNDROME
Asterisk 300264 UBIQUILIN 2; UBQLN2 PLIC2, MOUSE, HOMOLOG OF; PLIC2;; CHAP1
Asterisk 300265 ZIC FAMILY, MEMBER 3; ZIC3 ZINC FINGER PROTEIN OF CEREBELLUM 3;; HTX1
Percent 300266 SPASTIC PARAPLEGIA 16, X-LINKED; SPG16
Asterisk 300267 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; ARHGEF6 PAK-INTERACTING EXCHANGE FACTOR, ALPHA; PIXA;; ALPHA-PIX;; COOL2
Caret 300268 MOVED TO 610618
Asterisk 300269 HISTONE DEACETYLASE 8; HDAC8
NULL 300270 ADRENOMYODYSTROPHY
Number Sign 300271 MENTAL RETARDATION, X-LINKED 72; MRX72
Asterisk 300272 HISTONE DEACETYLASE 6; HDAC6 KIAA0901
Percent 300273 GOITER, MULTINODULAR 2; MNG2
Caret 300274 MOVED TO 300068
Asterisk 300275 NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN; NSDHL
Asterisk 300276 ECTODYSPLASIN A2 RECEPTOR; EDA2R ECTODYSPLASIN RECEPTOR, X-LINKED; XEDAR;; ECTODYSPLASIN A2 ISOFORM RECEPTOR;; EDA-A2 RECEPTOR;; EDA-A2R
Asterisk 300277 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 2; IL1RAPL2 INTERLEUKIN 1 RECEPTOR 9; IL1R9
Asterisk 300278 NYCTALOPIN; NYX
Caret 300279 MOVED TO 300260
Number Sign 300280 URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU FCMS;; FACIOCARDIOMUSCULOSKELETAL SYNDROME, URUGUAY TYPE
Asterisk 300281 POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 1; KCND1 Kv4.1
Asterisk 300282 ECTO-NOX DISULFIDE-THIOL EXCHANGER 2; ENOX2 CYTOSOLIC OVARIAN CARCINOMA ANTIGEN 1; COVA1
Asterisk 300283 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1; IRAK1 IRAK
Asterisk 300284 RAS-ASSOCIATED PROTEIN RAB9; RAB9
Asterisk 300285 RAS-ASSOCIATED PROTEIN 9B; RAB9B RAS-ASSOCIATED PROTEIN RAB9-LIKE; RAB9L
Asterisk 300286 KRUPPEL-LIKE FACTOR 8; KLF8 ZINC FINGER PROTEIN 741; ZNF741;; BASIC KRUPPEL-LIKE FACTOR 3; BKLF3
Asterisk 300287 P ANTIGEN FAMILY, MEMBER 4; PAGE4 PROSTATE-ASSOCIATED GENE 4;; G ANTIGEN, FAMILY C, 1; GAGEC1;; GAGE9;; JM27;; PROSTATE-ASSOCIATED GENE 1, FORMERLY; PAGE1, FORMERLY
Asterisk 300288 P ANTIGEN FAMILY, MEMBER 1; PAGE1 PROSTATE-ASSOCIATED GENE 1;; G ANTIGEN, FAMILY B, 1; GAGEB1
Asterisk 300289 X ANTIGEN FAMILY, MEMBER 1D; XAGE1D XAGE1;; G ANTIGEN, FAMILY D, 2; GAGED2
Caret 300290 MOVED TO 614732
Number Sign 300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY HED-ID ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED;; EDA-ID, INCLUDED;; HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA, INCLUDED;; XHM-ED, INCLUDED
Asterisk 300292 FORKHEAD BOX P3; FOXP3 SCURFIN;; JM2
Caret 300293 MOVED TO 301410
Asterisk 300294 MEMBRANE-BOUND TRANSCRIPTION FACTOR PROTEASE, SITE 2; MBTPS2 SITE-2 PROTEASE; S2P
Asterisk 300295 ONCOGENE PIM2; PIM2 SERINE/THREONINE PROTEIN KINASE PIM2
Asterisk 300296 PLACENTA-SPECIFIC GENE 1; PLAC1
Asterisk 300297 APELIN; APLN APJ RECEPTOR LIGAND
Asterisk 300298 UPF3, YEAST, HOMOLOG OF, B; UPF3B REGULATOR OF NONSENSE TRANSCRIPTS 3B; RENT3B;; UPF3X
Number Sign 300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX XLN
Asterisk 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK AGAMMAGLOBULINEMIA TYROSINE KINASE; ATK;; B-CELL PROGENITOR KINASE; BPK
Number Sign 300301 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDAID
Asterisk 300302 DYNEIN, LIGHT CHAIN, TCTEX TYPE, 3; DYNLT3 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1-LIKE; TCTE1L
Asterisk 300303 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 6; RPS6KA6 RIBOSOMAL S6 KINASE 4; RSK4
Asterisk 300304 CULLIN 4B; CUL4B KIAA0695
Asterisk 300305 SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER A1; SPANXA1 SPANX;; SPANX FAMILY, MEMBER A1
Percent 300306 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11; BMIQ11 OBESITY, SUSCEPTIBILITY TO
Asterisk 300307 T-BOX 22; TBX22
Asterisk 300308 FERRITIN HEAVY POLYPEPTIDE-LIKE 17; FTHL17
Asterisk 300309 UBIQUITIN-SPECIFIC PROTEASE 26; USP26
Percent 300310 AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2; AGMX2 XLA2
Asterisk 300311 TESTIS-EXPRESSED GENE 11; TEX11
Asterisk 300312 TESTIS-EXPRESSED GENE 13A; TEX13A
Asterisk 300313 TESTIS-EXPRESSED GENE 13B; TEX13B
Asterisk 300314 TAF7-LIKE RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 50-KD; TAF7L TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR Q; TAF2Q
Asterisk 300315 NUCLEAR RNA EXPORT FACTOR 2; NXF2
Asterisk 300316 NUCLEAR RNA EXPORT FACTOR 3; NXF3
Asterisk 300317 RALBP1-ASSOCIATED EPS DOMAIN-CONTAINING PROTEIN 2; REPS2 PARTNER OF RALBP1; POB1
Asterisk 300318 NUCLEAR RNA EXPORT FACTOR 4; NXF4
Asterisk 300319 NUCLEAR RNA EXPORT FACTOR 5; NXF5
Asterisk 300320 NTF2-LIKE EXPORT FACTOR 2; NXT2
Number Sign 300321 FG SYNDROME 2; FGS2
Number Sign 300322 LESCH-NYHAN SYNDROME; LNS HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY;; HPRT1 DEFICIENCY;; HPRT DEFICIENCY;; HPRT DEFICIENCY, COMPLETE HPRT DEFICIENCY, NEUROLOGIC VARIANT, INCLUDED;; LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT, INCLUDED
Number Sign 300323 KELLEY-SEEGMILLER SYNDROME GOUT, HPRT-RELATED;; HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, PARTIAL;; HPRT DEFICIENCY, PARTIAL;; HPRT1 DEFICIENCY, PARTIAL
Percent 300324 MENTAL RETARDATION, X-LINKED 53; MRX53
Asterisk 300325 SYNOVIAL SARCOMA, X BREAKPOINT 3; SSX3
Asterisk 300326 SYNOVIAL SARCOMA, X BREAKPOINT 4; SSX4
Asterisk 300327 SYNOVIAL SARCOMA, X BREAKPOINT 5; SSX5
Asterisk 300328 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED FAMILY, MEMBER 1-LIKE; KCNE1L KCNE5
Asterisk 300329 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 33; ZBTB33 KAISO GENE; KAISO
Asterisk 300330 SPANX FAMILY, MEMBER C; SPANXC SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER C;; CTP11
Percent 300331 THROMBOCYTHEMIA, X-LINKED; THCYTX THROMBOCYTOSIS, X-LINKED
Asterisk 300332 INTEGRIN, BETA-1, BINDING PROTEIN OF, 2; ITGB1BP2 MELUSIN
Asterisk 300333 RAS-ASSOCIATED PROTEIN RAB33A; RAB33A
Asterisk 300334 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 5; TRPC5 TRANSIENT RECEPTOR POTENTIAL CHANNEL 5;; TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 5; TRP5
Asterisk 300335 ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2 ACEH
Asterisk 300336 NEUROLIGIN 3; NLGN3
Number Sign 300337 HYPOMELANOSIS OF ITO; HMI INCONTINENTIA PIGMENTI ACHROMIANS; IPA;; ITO HYPOMELANOSIS; ITO;; INCONTINENTIA PIGMENTI, TYPE I, FORMERLY; IP1, FORMERLY
Asterisk 300338 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-2; CNGA2 CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 2; CNG2;; OCNC1, MOUSE, HOMOLOG OF; OCNC1
Asterisk 300339 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-DOUBLE PRIME, BETA; PPP2R3B PROTEIN PHOSPHATASE 2A, REGULATORY SUBUNIT, 48-KD; PR48
Asterisk 300340 MELANOMA ANTIGEN, FAMILY A, 5; MAGEA5 MAGE5
Asterisk 300341 MELANOMA ANTIGEN, FAMILY A, 8; MAGEA8 MAGE8
Asterisk 300342 MELANOMA ANTIGEN, FAMILY A, 9; MAGEA9 MAGE9
Asterisk 300343 MELANOMA ANTIGEN, FAMILY A, 10; MAGEA10 MAGE10
Asterisk 300344 MELANOMA ANTIGEN, FAMILY A, 11; MAGEA11 MAGE11
Percent 300345 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 1; MCOPCB1 MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 1
Asterisk 300346 HIV-1 TAT STIMULATORY FACTOR 1; HTATSF1 TATSF1
Asterisk 300347 EARLY LYMPHOID ACTIVATION GENE EPAG
Asterisk 300348 KELCH-LIKE 4; KLHL4
Asterisk 300349 GAMMA-AMINOBUTYRIC ACID RECEPTOR, THETA; GABRQ GABA-A RECEPTOR, THETA POLYPEPTIDE
Asterisk 300350 CHORDIN-LIKE 1; CHRDL1 VENTROPTIN; VOPT
Percent 300351 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1 GRDX1 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 2, INCLUDED; GRDX2, INCLUDED
Number Sign 300352 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 CREATINE DEFICIENCY SYNDROME, X-LINKED;; CREATINE TRANSPORTER DEFECT;; MENTAL RETARDATION, X-LINKED, WITH SEIZURES, SHORT STATURE, AND MIDFACE HYPOPLASIA;; MENTAL RETARDATION, X-LINKED, WITH CREATINE TRANSPORT DEFICIENCY
Asterisk 300353 V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 4; VSIG4 IMMUNOGLOBULIN SUPERFAMILY PROTEIN Z39IG; Z39IG;; COMPLEMENT RECEPTOR OF THE IMMUNOGLOBULIN SUPERFAMILY; CRIG
Number Sign 300354 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC CABEZAS SYNDROME;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 15; MRXS15;; MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT;; MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE; MRSS
Percent 300355 MENTAL RETARDATION, X-LINKED 73; MRX73
Asterisk 300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, A; TIMM8A DEAFNESS/DYSTONIA PEPTIDE; DDP;; DEAFNESS/DYSTONIA PEPTIDE 1; DDP1;; DFN1, FORMERLY
Asterisk 300357 CYTOKINE RECEPTOR-LIKE FACTOR 2; CRLF2 CRL2;; THYMIC STROMAL LYMPHOPOIETIN RECEPTOR; TSLPR CRLF2/P2RY8 FUSION GENE, INCLUDED
Asterisk 300358 PROTEIN KINASE, LYSINE-DEFICIENT 3; WNK3 PRKWNK3;; KIAA1566
Asterisk 300359 SARCOMA ANTIGEN 1; SAGE1 SAGE
Caret 300360 MOVED TO 300354
Asterisk 300361 NERVE GROWTH FACTOR RECEPTOR-ASSOCIATED PROTEIN 1; NGFRAP1 NGFR-ASSOCIATED PROTEIN 1;; p75(NTR)-ASSOCIATED CELL DEATH EXECUTOR; NADE;; BRAIN-EXPRESSED X-LINKED GENE 3; BEX3
Asterisk 300362 ARMADILLO REPEAT CONTAINING, X-LINKED 1; ARMCX3 ARM PROTEIN LOST IN EPITHELIAL CANCERS, X CHROMOSOME, 1; ALEX1
Asterisk 300363 ARMADILLO REPEAT CONTAINING, X-LINKED 2; ARMCX2 ARM PROTEIN LOST IN EPITHELIAL CANCERS, X CHROMOSOME, 2; ALEX2;; KIAA0512
Asterisk 300364 ARMADILLO REPEAT CONTAINING, X-LINKED 3; ARMCX3 ARM PROTEIN LOST IN EPITHELIAL CANCERS, X CHROMOSOME, 3; ALEX3
Asterisk 300365 TOLL-LIKE RECEPTOR 7; TLR7
Asterisk 300366 TOLL-LIKE RECEPTOR 8; TLR8
Number Sign 300367 THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA
Asterisk 300368 SOLUTE CARRIER FAMILY 9, MEMBER 7; SLC9A7 SODIUM/HYDROGEN EXCHANGER 7; NHE7
Asterisk 300369 ACIDIC REPEAT-CONTAINING GENE; ACRC
Asterisk 300370 3-PRIME REPAIR EXONUCLEASE 2; TREX2
Asterisk 300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1 ADRENOLEUKODYSTROPHY PROTEIN; ALDP
Percent 300372 MENTAL RETARDATION, X-LINKED 42; MRX42
Number Sign 300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS HYPEROSTOSIS GENERALISATA WITH STRIATIONS
Asterisk 300374 SH3-DOMAIN KINASE-BINDING PROTEIN 1; SH3KBP1 CBL-INTERACTING PROTEIN, 85-KD; CIN85
Asterisk 300375 CARBOHYDRATE SULFOTRANSFERASE 7; CHST7 CHONDROITIN 6-SULFOTRANSFERASE 2; C6ST2
Number Sign 300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD BECKER MUSCULAR DYSTROPHY;; MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE
Asterisk 300377 DYSTROPHIN; DMD APO-DYSTROPHIN 1, INCLUDED
Percent 300378 RADIAL RAY DEFICIENCY, X-LINKED RRDX
Asterisk 300379 RING FINGER PROTEIN, LIM DOMAIN-INTERACTING; RLIM RING FINGER PROTEIN 12; RNF12;; RING ZINC FINGER PROTEIN NY-REN-43 ANTIGEN
Asterisk 300380 CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 2; CTPS2 CTP SYNTHETASE 2;; CTP SYNTHASE 2
Asterisk 300381 ZINC FINGER PROTEIN 185; ZNF185
Asterisk 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX
Asterisk 300383 COMPLEMENT FACTOR PROPERDIN; CFP PROPERDIN P FACTOR, COMPLEMENT; PFC;; PROPERDIN;; FACTOR P
Asterisk 300384 EMERIN; EMD STA
Asterisk 300385 NUCLEOSOMAL BINDING PROTEIN 1; NSBP1
Asterisk 300386 CD40 LIGAND; CD40LG CD40 ANTIGEN LIGAND; CD40L;; CD154;; TNF-RELATED ACTIVATION PROTEIN; TRAP;; TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5;; GP39
Number Sign 300387 MENTAL RETARDATION, X-LINKED 63; MRX63 MENTAL RETARDATION, X-LINKED 68; MRX68
Percent 300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX PMGX;; BPP;; PERISYLVIAN SYNDROME, CONGENITAL BILATERAL; CBPS
Caret 300389 MOVED TO 300029
Asterisk 300390 CHM GENE; CHM RAB ESCORT PROTEIN 1; REP1;; RAB GERANYLGERANYLTRANSFERASE, COMPONENT A;; RAB GG TRANSFERASE;; GGTA
Asterisk 300391 AMELOGENIN; AMELX ALGN;; AMG;; AMGL
Asterisk 300392 WAS GENE; WAS WAS PROTEIN; WASP
Asterisk 300393 G PROTEIN-COUPLED RECEPTOR 101; GPR101 GPCR101
Asterisk 300394 TAFAZZIN; TAZ G4.5
Asterisk 300395 THO COMPLEX, SUBUNIT 2; THOC2 THO2, YEAST, HOMOLOG OF; THO2
Asterisk 300396 CANCER/TESTIS ANTIGEN 2; CTAG2 LAGE1;; CTL-RECOGNIZED ANTIGEN ON MELANOMA; CAMEL
Caret 300397 MOVED TO 300352
Asterisk 300398 B-CELL RECEPTOR-ASSOCIATED PROTEIN 31; BCAP31 BAP31;; DXS1357E
Asterisk 300399 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1, INHIBITOR OF: PCSK1N PROSAAS
Number Sign 300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE;; SCIDX; XSCID;; SCID, X-LINKED;; IMMUNODEFICIENCY 4; IMD4
Asterisk 300401 PROTEOLIPID PROTEIN 1; PLP1 PROTEOLIPID PROTEIN, MYELIN; PLP;; LIPOPHILIN DM20, INCLUDED
Asterisk 300402 LEUCINE ZIPPER, DOWNREGULATED IN CANCER 1; LDOC1
Asterisk 300403 NADH DEHYDROGENASE 1 BETA SUBCOMPLEX, 11; NDUFB11 NEURONAL PROTEIN, 17.3-KD;; p17.3
Caret 300404 MOVED TO 308205
Asterisk 300405 RAS-ASSOCIATED PROTEIN RAB40A-LIKE; RAB40AL RAS-LIKE GTPase GENE; RLGP
Percent 300406 FG SYNDROME 3; FGS3
Asterisk 300407 POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 5; PABPC5 POLYADENYLATE-BINDING PROTEIN 5; PABP5;; POLY(A)-BINDING PROTEIN 5
Asterisk 300408 GRIP1-ASSOCIATED PROTEIN 1; GRIPAP1 GRASP1;; KIAA1167
Asterisk 300409 MORTALITY FACTOR 4-LIKE PROTEIN 2; MORF4L2 MORF4-LIKE PROTEIN 2;; MORF-RELATED GENE X; MRGX;; KIAA0026
Asterisk 300410 ANGIOMOTIN; AMOT KIAA1071
Asterisk 300411 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2-LIKE, X-LINKED; TGIF2LX TGIFLX
Caret 300412 MOVED TO 300166
Asterisk 300413 MUSCLEBLIND-LIKE SPLICING REGULATOR 3; MBNL3 MUSCLEBLIND-LIKE PROTEIN 3;; MUSCLEBLIND-LIKE PROTEIN, X-LINKED; MBXL
Asterisk 300414 PHD FINGER PROTEIN 6; PHF6
Asterisk 300415 MYOTUBULARIN; MTM1
Asterisk 300416 X ANTIGEN FAMILY, MEMBER 2; XAGE2 G ANTIGEN, FAMILY D, 3; GAGED3
Asterisk 300417 G PROTEIN-COUPLED RECEPTOR-ASSOCIATED SORTING PROTEIN 1; GPRASP1 GASP1;; G PROTEIN-COUPLED RECEPTOR-ASSOCIATED SORTING PROTEIN; GASP;; KIAA0443
Asterisk 300418 G1- TO S-PHASE TRANSITION 2; GSPT2 GST2, YEAST, HOMOLOG OF; GST2;; PEPTIDE CHAIN RELEASE FACTOR 3B; ERF3B
Number Sign 300419 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX MENTAL RETARDATION, X-LINKED 29; MRX29;; MENTAL RETARDATION, X-LINKED 32; MRX32;; MENTAL RETARDATION, X-LINKED 33; MRX33;; MENTAL RETARDATION, X-LINKED 38; MRX38;; MENTAL RETARDATION, X-LINKED 43; MRX43;; MENTAL RETARDATION, X-LINKED 54; MRX54;; MENTAL RETARDATION, X-LINKED 76; MRX76;; MENTAL RETARDATION, X-LINKED 87; MRX87
Asterisk 300420 PRAJA 1; PJA1
Caret 300421 MOVED TO 194190
Number Sign 300422 FG SYNDROME 4; FGS4 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS, INCLUDED
Number Sign 300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; MRXE
Number Sign 300424 RETINITIS PIGMENTOSA 23; RP23
Number Sign 300425 AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1
Caret 300426 MOVED TO 300143
Asterisk 300427 NEUROLIGIN 4; NLGN4 NL4;; KIAA1260
Percent 300428 MENTAL RETARDATION, X-LINKED 2; MRX2
Asterisk 300429 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 9; ARHGEF9 PEM2;; COLLYBISTIN;; KIAA0424
Caret 300430 MOVED TO 300419
NULL 300431 ATKIN-FLAITZ SYNDROME ATKIN SYNDROME
Caret 300432 MOVED TO 308350
Percent 300433 MENTAL RETARDATION, X-LINKED 81; MRX81
Number Sign 300434 STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; SDSX MENTAL RETARDATION, X-LINKED, STOCCO DOS SANTOS TYPE
Asterisk 300435 PROGESTERONE RECEPTOR MEMBRANE COMPONENT 1; PGRMC1
Number Sign 300436 MENTAL RETARDATION, X-LINKED 46; MRX46
Asterisk 300437 EMBRYONIC STEM CELL-EXPRESSED RAS; ERAS V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG 2; HRAS2;; V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG PSEUDOGENE, FORMERLY; HRASP, FORMERLY
Number Sign 300438 HSD10 MITOCHONDRIAL DISEASE; HSD10MD HSD17B10 DEFICIENCY;; 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY;; 3-HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY;; 2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY;; MHBD DEFICIENCY;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10;; CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR; CAMR;; MENTAL RETARDATION WITH CHORIOATHETOSIS AND ABNORMAL BEHAVIOR
Asterisk 300439 RING FINGER PROTEIN 128; RNF128 GENE RELATED TO ANERGY IN LYMPHOCYTES; GRAIL
Asterisk 300440 NFKB-REPRESSING FACTOR; NKRF NRF;; NUCLEAR FACTOR KAPPA-B-REPRESSING FACTOR;; ITBA4
Asterisk 300441 SH3 PROTEIN EXPRESSED IN LYMPHOCYTES SLY;; HEMATOPOIETIC ADAPTOR CONTAINING SH3 AND SAM DOMAINS 2; HACS2;; CHROMOSOME X OPEN READING FRAME 9; CXORF9
Caret 300442 MOVED TO 311900
Asterisk 300443 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 3; SLC7A3 CATIONIC AMINO ACID TRANSPORTER 3; CAT3
Asterisk 300444 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 14; SLC6A14 AMINO ACID TRANSPORTER B(0+);; ATB(0+)
Asterisk 300445 H2A HISTONE FAMILY, MEMBER B3; H2AFB3 H2A HISTONE FAMILY, MEMBER B; H2AFB;; H2A HISTONE, BARR BODY-DEFICIENT; H2ABBD
Asterisk 300446 RHOX HOMEOBOX FAMILY, MEMBER 1; RHOXF1 OVARY-, TESTIS-, AND EPIDIDYMIS-EXPRESSED GENE; OTEX;; HOMEOBOX PROTEIN, PEPP SUBFAMILY, 1; PEPP1
Asterisk 300447 RHOX HOMEOBOX FAMILY, MEMBER 2; RHOXF2 HOMEOBOX PROTEIN, PEPP SUBFAMILY, 2; PEPP2
Number Sign 300448 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS HEMOGLOBIN H DISEASE, ACQUIRED
Caret 300449 MOVED TO 300448
Asterisk 300450 FETAL AND ADULT TESTIS-EXPRESSED GENE 1; FATE1 FATE
Asterisk 300451 ECTODYSPLASIN A; EDA ECTODYSPLASIN;; EDA1 GENE;; ED1 GENE; ED1 ECTODYSPLASIN A1 ISOFORM, INCLUDED;; EDA-A1, INCLUDED;; ECTODYSPLASIN A2 ISOFORM, INCLUDED;; EDA-A2, INCLUDED
Asterisk 300452 INHIBITOR OF GROWTH, X-LINKED; INGX INHIBITOR OF GROWTH 2, FORMERLY; ING2, FORMERLY
Asterisk 300453 FAMILY WITH SEQUENCE SIMILARITY 50, MEMBER A; FAM50A XAP5 GENE;; DXS9928E;; HXC26;; 9F
Percent 300454 MENTAL RETARDATION, X-LINKED 77; MRX77
Number Sign 300455 RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS
Asterisk 300456 CYCLIN B3; CCNB3 CCNB3/BCOR FUSION GENE, INCLUDED
Asterisk 300457 NHS GENE; NHS
Caret 300458 MOVED TO 300055
Asterisk 300459 TENOMODULIN; TNMD TEM;; CHONDROMODULIN I-LIKE; CHM1L;; CHM1-LIKE
Asterisk 300460 PROTOCADHERIN 19; PCDH19 KIAA1313
Asterisk 300461 ORNITHINE CARBAMOYLTRANSFERASE; OTC ORNITHINE TRANSCARBAMYLASE
Asterisk 300462 A-KINASE ANCHOR PROTEIN 14; AKAP14 A-KINASE ANCHOR PROTEIN, 28-KD; AKAP28
Asterisk 300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1 NUCLEAR PROTEIN CONTAINING A WW DOMAIN, 38-KD; NPW38
Percent 300464 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3 CHDS3
Caret 300465 MOVED TO 301040
Asterisk 300466 MELANOMA ANTIGEN, FAMILY B, 5; MAGEB5
Asterisk 300467 MELANOMA ANTIGEN, FAMILY B, 6; MAGEB6
Asterisk 300468 MELANOMA ANTIGEN, FAMILY C, 2; MAGEC2 CANCER-TESTIS ANTIGEN 10; CT10;; HCA587;; MELANOMA ANTIGEN, FAMILY E, 1, FORMERLY; MAGEE1, FORMERLY
Asterisk 300469 MELANOMA ANTIGEN, FAMILY C, 3; MAGEC3
Asterisk 300470 MELANOMA ANTIGEN, FAMILY D, 2; MAGED2 MAGED
Percent 300471 CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES
Number Sign 300472 CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA MENTAL RETARDATION, X-LINKED, SYNDROMIC 28; MRXS28
Asterisk 300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1 DSS-AHC CRITICAL REGION ON THE X CHROMOSOME 1, GENE 1; DAX1
Asterisk 300474 GLYCEROL KINASE; GK ATP:GLYCEROL PHOSPHOTRANSFERASE
Number Sign 300475 DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME, INCLUDED; CADDS, INCLUDED
Number Sign 300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3
Asterisk 300477 FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER A; FAM9A
Asterisk 300478 FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER B; FAM9B
Asterisk 300479 FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER C; FAM9C
Asterisk 300480 TAK1-BINDING PROTEIN 3; TAB3 TGF-BETA-ACTIVATED KINASE 1/MAP3K7-BINDING PROTEIN 3;; TAK1/MAP3K7-BINDING PROTEIN 3;; MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN 3; MAP3K7IP3;; NF-KAPPA-B-ACTIVATING PROTEIN 1; NAP1
Asterisk 300481 CYTOCHROME b(-245), BETA SUBUNIT; CYBB CYTOCHROME b(558), BETA SUBUNIT;; p91-PHOX;; NADPH OXIDASE 2; NOX2;; GP91-1
Asterisk 300482 GRB2-ASSOCIATED BINDING PROTEIN 3; GAB3
Caret 300483 MOVED TO 300031
Percent 300484 OROFACIODIGITAL SYNDROME VIII; OFD8 OFDS VIII;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;; ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;; EDWARDS SYNDROME
Asterisk 300485 BCL6 COREPRESSOR; BCOR KIAA1575 BCOR/CCNB3 FUSION GENE, INCLUDED
Number Sign 300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE MENTAL RETARDATION, X-LINKED 60, FORMERLY; MRX60, FORMERLY
Asterisk 300487 ACTIN-RELATED PROTEIN T1; ACTRT1 ARPT1
Percent 300488 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENOQ1
Number Sign 300489 SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3 SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE;; DSMAX
Asterisk 300490 SH2 DOMAIN PROTEIN 1A; SH2D1A SIGNALING LYMPHOCYTE ACTIVATION MOLECULE-ASSOCIATED PROTEIN;; SLAM-ASSOCIATED PROTEIN; SAP
Number Sign 300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
Asterisk 300492 FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER A; FAM3A
Asterisk 300493 SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER A2; SPANXA2
Number Sign 300494 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1; ASPGX1
Number Sign 300495 AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2 MENTAL RETARDATION, X-LINKED, INCLUDED
Number Sign 300496 AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3
Number Sign 300497 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2
Percent 300498 MENTAL RETARDATION, X-LINKED 45; MRX45
Asterisk 300499 FTSJ HOMOLOG 1; FTSJ1 SPB1, S. CEREVISIAE, HOMOLOG OF;; JM23
Number Sign 300500 ALBINISM, OCULAR, TYPE I; OA1 NETTLESHIP-FALLS TYPE OCULAR ALBINISM
Caret 300501 MOVED TO 309549
Asterisk 300502 PYRUVATE DEHYDROGENASE, ALPHA-1; PDHA1 PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PHE1A;; PDHCE1A;; PDHA
Caret 300503 MOVED TO 300419
Percent 300504 MENTAL RETARDATION, X-LINKED 52; MRX52
Percent 300505 MENTAL RETARDATION, X-LINKED 84; MRX84
Asterisk 300506 TSC22 DOMAIN FAMILY, MEMBER 3; TSC22D3 DELTA SLEEP-INDUCING PEPTIDE, IMMUNOREACTOR; DSIPI;; GLUCOCORTICOID-INDUCED LEUCINE ZIPPER; GILZ
Asterisk 300507 H2B HISTONE FAMILY, MEMBER W, TESTIS-SPECIFIC; H2BFWT
Asterisk 300508 UTP14, S. CEREVISIAE, HOMOLOG OF, A; UTP14A NY-CO-16
Percent 300509 DYSLEXIA, SUSCEPTIBILITY TO, 9; DYX9
Number Sign 300510 OVARIAN DYSGENESIS 2; ODG2 OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED;; OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESIS PREMATURE OVARIAN FAILURE 4, INCLUDED; POF4, INCLUDED
Number Sign 300511 PREMATURE OVARIAN FAILURE 2A; POF2A
Asterisk 300512 WD REPEAT-CONTAINING PROTEIN 13; WDR13
Asterisk 300513 G PROTEIN-COUPLED RECEPTOR 119; GPR119 G PROTEIN-COUPLED RECEPTOR 2; GPCR2
Number Sign 300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB FACB;; FANCONI PANCYTOPENIA, TYPE 2; FA2
Asterisk 300515 FANCB GENE; FANCB FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 95-KD; FAAP95;; FAAP90;; FLJ34064
Asterisk 300516 ATPase, CLASS VI, TYPE 11C; ATP11C ATPase IQ; ATPIQ;; ATPase IG; ATPIG
Asterisk 300517 SPINDLIN FAMILY, MEMBER 2 SPIN2;; SPIN2, TELOMERIC COPY
Percent 300518 MENTAL RETARDATION, X-LINKED 82; MRX82
Percent 300519 MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE; MRXSMP MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME
Asterisk 300520 CLAUDIN 2; CLDN2
Asterisk 300521 KINESIN FAMILY MEMBER 4A; KIF4A KIF4
Asterisk 300522 IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 2; IQSEC2 KIAA0522
Number Sign 300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS ALLAN-HERNDON SYNDROME;; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY;; TRIIODOTHYRONINE RESISTANCE;; T3 RESISTANCE;; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA;; MENTAL RETARDATION AND MUSCULAR ATROPHY
Asterisk 300524 NEURITE EXTENSION AND MIGRATION FACTOR; NEXMIF KIAA2022
Asterisk 300525 PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 8; P2RY8 P2Y8 P2RY8/CRLF2 FUSION GENE, INCLUDED
Asterisk 300526 WD REPEAT-CONTAINING PROTEIN 45; WDR45 WD40 REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSITIDES 4; WIPI4
Asterisk 300527 NUDIX HYDROLASE 10; NUDT10 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 10;; NUDIX MOTIF 10;; DIPHOSPHOINOSITOL POLYPHOSPHATE PHOSPHOHYDROLASE 3, ALPHA; DIPP3A;; DIPP3-ALPHA;; APS2
Asterisk 300528 NUDIX HYDROLASE 11; NUDT11 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 11;; NUDIX MOTIF 11;; DIPHOSPHOINOSITOL POLYPHOSPHATE PHOSPHOHYDROLASE 3, BETA; DIPP3B;; DIPP3-BETA;; APS1
Asterisk 300529 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 10; P2RY10 P2Y10
Caret 300530 MOVED TO 611775
Asterisk 300531 SPROUTY, DROSOPHILA, HOMOLOG OF, 3; SPRY3
Asterisk 300532 VARIABLY CHARGED, X CHROMOSOME, 2; VCX2 VARIABLY CHARGED, X CHROMOSOME, WITH 2 REPEATS; VCX2R;; VARIABLY CHARGED, X CHROMOSOME, B; VCXB
Asterisk 300533 VARIABLY CHARGED, X CHROMOSOME, 3A; VCX3A VARIABLY CHARGED, X CHROMOSOME, WITH 8 REPEATS; VCX8R;; VARIABLY CHARGED, X CHROMOSOME, A; VCXA
Number Sign 300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED; MRXSJ
Asterisk 300535 OCRL GENE; OCRL OCRL1
Percent 300536 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 4; BMND4
Caret 300537 MOVED TO 300049
Asterisk 300538 ARGININE VASOPRESSIN RECEPTOR 2; AVPR2 ANTIDIURETIC HORMONE RECEPTOR; ADHR;; VASOPRESSIN V2 RECEPTOR; V2R
Number Sign 300539 NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD
Asterisk 300540 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 7; HAUS7 UCHL5-INTERACTING PROTEIN; UCHL5IP;; UCH37-INTERACTING PROTEIN 1; UIP1
Asterisk 300541 SARCOMA, SYNOVIAL, X BREAKPOINT 6; SSX6
Asterisk 300542 SARCOMA, SYNOVIAL, X BREAKPOINT 7; SSX7
Asterisk 300543 SARCOMA, SYNOVIAL, X BREAKPOINT 8; SSX8
Asterisk 300544 SARCOMA, SYNOVIAL, X BREAKPOINT 9; SSX9
Asterisk 300545 HEPARAN SULFATE 6-O-SULFOTRANSFERASE 2; HS6ST2
Asterisk 300546 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 1; FGD1
Asterisk 300547 MST3- AND SOK1-RELATED KINASE MASK;; MAMMALIAN STERILE 20-LIKE 4; MST4
Asterisk 300548 MELANOMA ANTIGEN, FAMILY H, 1; MAGEH1 MAGEH
Asterisk 300549 MELANOMA ANTIGEN, FAMILY A, 2B; MAGEA2B
Asterisk 300550 PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX PEX
Caret 300551 MOVED TO 309530
Asterisk 300552 MIDLINE 1; MID1 MIDLINE 1 RING FINGER GENE;; MIDIN;; FINGER ON X AND Y, MOUSE, HOMOLOG OF; FXY
Asterisk 300553 BROMODOMAIN- AND WD REPEAT-CONTAINING PROTEIN 3; BRWD3
Number Sign 300554 HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
Number Sign 300555 DENT DISEASE 2
Asterisk 300556 ATPase, H+ TRANSPORTING, LYSOSOMAL, ACCESSORY PROTEIN 2; ATP6AP2 M8-9, BOVINE, HOMOLOG OF;; ATP6M8-9;; RENIN RECEPTOR
Percent 300557 PARKINSON DISEASE 12; PARK12 PARKINSON DISEASE, X-LINKED
Number Sign 300558 MENTAL RETARDATION, X-LINKED 30; MRX30 MENTAL RETARDATION, X-LINKED 47; MRX47
Number Sign 300559 GLYCOGEN STORAGE DISEASE, TYPE IXd; GSD9D GSD IXd;; MUSCLE PHOSPHORYLASE KINASE DEFICIENCY;; MUSCLE GLYCOGENOSIS, X-LINKED
Asterisk 300560 PHD FINGER PROTEIN 8; PHF8 ZINC FINGER PROTEIN 422; ZNF422;; KIAA1111
Asterisk 300561 SLIT- AND NTRK-LIKE FAMILY, MEMBER 2; SLITRK2 CHROMOSOME X OPEN READING FRAME 2; CXORF2;; CHROMOSOME X OPEN READING FRAME 1; CXORF1;; TRANSMEMBRANE PROTEIN 257; TMEM257;; KIAA1854
Asterisk 300562 SLIT- AND NTRK-LIKE FAMILY, MEMBER 4; SLITRK4
Caret 300563 MOVED TO 311070
Asterisk 300564 TSPY-LIKE 2; TSPYL2 CELL DIVISION AUTOANTIGEN 1; CDA1;; DIFFERENTIALLY EXPRESSED NUCLEOLAR TGFB1 TARGET; DENTT;; CASK-INTERACTING NUCLEOSOME ASSEMBLY PROTEIN; CINAP
Caret 300565 MOVED TO 300561
Asterisk 300566 LHFP-LIKE PROTEIN 1; LHFPL1
Asterisk 300567 PHOSPHOGLYCERATE MUTASE FAMILY MEMBER 4; PGAM4 PHOSPHOGLYCERATE MUTASE FAMILY 3; PGAM3
Asterisk 300568 MICRO RNA 221; MIR221 miRNA221;; MIRN221
Asterisk 300569 MICRO RNA 222; MIR222 miRNA222;; MIRN222
Asterisk 300570 TRANSCRIPTION FACTOR YY2; YY2 ZNF631
Caret 300571 MOVED TO 615465
Asterisk 300572 ADHESION G PROTEIN-COUPLED RECEPTOR G2; ADGRG2 G PROTEIN-COUPLED RECEPTOR 64; GPR64;; G PROTEIN-COUPLED RECEPTOR, EPIDIDYMIS-SPECIFIC;; HUMAN EPIDIDYMIS-SPECIFIC PROTEIN 6; HE6
Asterisk 300573 ZINC FINGER PROTEIN 674; ZNF674
Asterisk 300574 CHEMOKINE, CXC MOTIF, RECEPTOR 3; CXCR3 G PROTEIN-COUPLED RECEPTOR 9; GPR9;; CD183 ANTIGEN; CD183
Asterisk 300575 RIPPLY1, ZEBRAFISH, HOMOLOG OF; RIPPLY1 LOC92129
Asterisk 300576 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 15; ZDHHC15
Number Sign 300577 MENTAL RETARDATION, X-LINKED 91; MRX91
Number Sign 300578 CHROMOSOME Xp11.3 DELETION SYNDROME MENTAL RETARDATION, X-LINKED, WITH RETINITIS PIGMENTOSA
Asterisk 300579 SHROOM FAMILY MEMBER 4; SHROOM4 KIAA1202
Percent 300580 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED; CFTDX
Percent 300581 FG SYNDROME 5; FGS5
Number Sign 300582 SHORT STATURE, IDIOPATHIC, X-LINKED; ISS
Asterisk 300583 VESTIGIAL-LIKE 1; VGLL1 VGL1;; TONDU; TDU
Number Sign 300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA IMMUNODEFICIENCY, ISOLATED;; IMMUNODEFICIENCY, PURE
Asterisk 300585 ZINC FINGER PROTEIN 673; ZNF673 FLJ20344
Asterisk 300586 ARYLSULFATASE H; ARSH
Asterisk 300587 MALIGNANT T-CELL AMPLIFIED SEQUENCE 1; MCTS1 MCT1
Asterisk 300588 TENEURIN TRANSMEMBRANE PROTEIN 1; TENM1 ODZ, DROSOPHILA, HOMOLOG OF, 1; ODZ1;; TENASCIN M1; TNM1;; TENEURIN 1
Percent 300589 NYSTAGMUS 5, CONGENITAL, X-LINKED; NYS5
Number Sign 300590 CORNELIA DE LANGE SYNDROME 2; CDLS2 CORNELIA DE LANGE SYNDROME, X-LINKED;; CDLS, X-LINKED
Percent 300591 STATURE QUANTITATIVE TRAIT LOCUS 6; STQTL6
Asterisk 300592 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A11; CT47A11 CT47.11;; LOC255313
Asterisk 300593 SPERM ACROSOME-ASSOCIATED PROTEIN 5; SPACA5 LOC389852
Asterisk 300594 G ANTIGEN 1; GAGE1
Asterisk 300595 G ANTIGEN 2C; GAGE2C GAGE2
Asterisk 300596 G ANTIGEN 3; GAGE3
Asterisk 300597 G ANTIGEN 4; GAGE4
Asterisk 300598 G ANTIGEN 5; GAGE5
Asterisk 300599 G ANTIGEN 6; GAGE6
Number Sign 300600 ALAND ISLAND EYE DISEASE; AIED FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
Asterisk 300601 G ANTIGEN 7; GAGE7
NULL 300602 CLARK-BARAITSER SYNDROME BARAITSER SYNDROME
Asterisk 300603 POF1B GENE; POF1B FLJ22792;; ACTIN-BINDING PROTEIN, 34-KD
Number Sign 300604 PREMATURE OVARIAN FAILURE 2B; POF2B
Percent 300605 RETINITIS PIGMENTOSA 34; RP34
Caret 300606 MOVED TO 313500
Number Sign 300607 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8 HYPEREKPLEXIA AND EPILEPSY
Asterisk 300608 DACHSHUND, DROSOPHILA, HOMOLOG OF, 2; DACH2
Asterisk 300609 MALE-SPECIFIC LETHAL 3, DROSOPHILA, HOMOLOG OF; MSL3 MALE-SPECIFIC LETHAL 3-LIKE 1; MSL3L1;; DROSOPHILA MSL3-LIKE 1
Asterisk 300610 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H2; HNRNPH2 HNRPH2;; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H-PRIME
Asterisk 300611 C1GALT1-SPECIFIC CHAPERONE 1; C1GALT1C1 CORE 1 BETA-3-GALACTOSYLTRANSFERASE-SPECIFIC MOLECULAR CHAPERONE;; COSMC;; C1GALT2
Percent 300612 BROOKS-WISNIEWSKI-BROWN SYNDROME MENTAL RETARDATION, X-LINKED, SYNDROMIC, BROOKS-WISNIEWSKI-BROWN TYPE; MRXSBWB
Percent 300613 MYOPIA 13, X-LINKED; MYP13
Number Sign 300614 DEAFNESS, X-LINKED 5; DFNX5 AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY; AUNX1
Number Sign 300615 BRUNNER SYNDROME; BRNRS ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO, INCLUDED
Asterisk 300616 LEUCINE ZIPPER PROTEIN 4; LUZP4 HOM-TES-85
Asterisk 300617 BRCA1/BRCA2-CONTAINING COMPLEX, SUBUNIT 3; BRCC3 C6.1A;; BRCC36
Asterisk 300618 PHD FINGER PROTEIN 16; PHF16 JADE3;; KIAA0215
Percent 300619 CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION CASM SYNDROME
Asterisk 300620 V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 1; VSIG1 GLYCOPROTEIN A34; GPA34
Asterisk 300621 DXF34 GENE DXF34;; SPINDLIN FAMILY, MEMBER 2, CENTROMERIC COPY;; SPIN2, CENTROMERIC COPY
Number Sign 300622 TN POLYAGGLUTINATION SYNDROME; TNPS GALACTOSYLTRANSFERASE DEFICIENCY
Number Sign 300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS
Number Sign 300624 FRAGILE X SYNDROME; FXS FRAGILE X MENTAL RETARDATION SYNDROME;; MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28;; X-LINKED MENTAL RETARDATION AND MACROORCHIDISM;; MARKER X SYNDROME;; MARTIN-BELL SYNDROME
Asterisk 300625 KITA-KYUSHU LUNG CANCER ANTIGEN 1 KKLC1;; CHROMOSOME X OPEN READING FRAME 61; CXORF61
Asterisk 300626 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 11; ASB11
Asterisk 300627 ZINC FINGER PROTEIN 449; ZNF449 ZSCAN19
Asterisk 300628 FERM DOMAIN-CONTAINING PROTEIN 7; FRMD7
Asterisk 300629 ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-2 SUBUNIT; AP1S2 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 1-LIKE;; CLATHRIN ADAPTOR COMPLEX AP1, SIGMA-1B SUBUNIT
Caret 300630 MOVED TO 304340
Asterisk 300631 TRANSMEMBRANE PROTEIN 27; TMEM27 COLLECTRIN;; NX17
Asterisk 300632 PDZ DOMAIN-CONTAINING 11; PDZD11 ATPase-INTERACTING PDZ PROTEIN; AIPP1;; PLASMA MEMBRANE CALCIUM ATPase-INTERACTING SINGLE PDZ PROTEIN; PISP;; PMCA-INTERACTING SINGLE PDZ PROTEIN
Number Sign 300633 HYPOSPADIAS 1, X-LINKED; HYSP1
Asterisk 300634 PDZ DOMAIN-CONTAINING 4; PDZD4 PDZK4;; PDZRN4L;; KIAA1444;; LU1
Number Sign 300635 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 XIAP DEFICIENCY
Number Sign 300636 IMMUNODEFICIENCY 33; IMD33 IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED;; ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1; AMCBX1
Asterisk 300637 G ANTIGEN 12I; GAGE12I GAGE7B
Asterisk 300638 G ANTIGEN 8; GAGE8
Caret 300639 MOVED TO 300354
Number Sign 300640 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2; IPD2
Asterisk 300641 SOLUTE CARRIER FAMILY 25, MEMBER 43; SLC25A43
Asterisk 300642 SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED, 2; SRPX2 SUSHI REPEAT PROTEIN UPREGULATED IN LEUKEMIA; SRPUL
Number Sign 300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX
Asterisk 300644 GALACTOSIDASE, ALPHA; GLA ALPHA-GALACTOSIDASE A; GALA
Number Sign 300645 IMMUNODEFICIENCY 34; IMD34 IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED;; ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2; AMCBX2
Asterisk 300646 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 9; ZDHHC9 DHHC DOMAIN-CONTAINING PROTEIN 9; DHHC9
Asterisk 300647 APC MEMBRANE RECRUITMENT PROTEIN 1; AMER1 WTX;; FAMILY WITH SEQUENCE SIMILARITY 123, MEMBER B; FAM123B
Asterisk 300648 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A1; CT45A1 CANCER/TESTIS ANTIGEN 45, MEMBER 1; CT45.1
Asterisk 300649 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 5; SLC38A5 TRANSPORT SYSTEM N, PROTEIN 2; SN2
NULL 300650 ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS; OASD OCULAR ALBINISM WITH SENSORINEURAL DEAFNESS;; DEAFNESS AND OCULAR ALBINISM
Asterisk 300651 PORCUPINE, DROSOPHILA, HOMOLOG OF; PORCN PORC
Percent 300652 ANGIOMA SERPIGINOSUM, X-LINKED
Number Sign 300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY PGK1 DEFICIENCY
Asterisk 300654 FATTY ACID AMIDE HYDROLASE 2; FAAH2
Asterisk 300655 KELCH-LIKE 13; KLHL13 KIAA1309
Asterisk 300656 URACIL PHOSPHORIBOSYLTRANSFERASE, S. CEREVISIAE, HOMOLOG OF; UPRT
Asterisk 300657 CANCER/TESTIS ANTIGEN 1A; CTAG1A LAGE2A;; LAGE2, CENTROMERIC COPY
Asterisk 300658 NDP GENE; NDP NORRIN
Number Sign 300659 MENTAL RETARDATION, X-LINKED 93; MRX93 MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY
Percent 300660 LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA; LKMCD
Number Sign 300661 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 SUPERACTIVITY GOUT, PRPS-RELATED, INCLUDED
Asterisk 300662 SMALL NUCLEOLAR RNA, H/ACA BOX, 11; SNORA11 snoRNA, U107
Asterisk 300663 AUTOPHAGY 4, S. CEREVISIAE, HOMOLOG OF, A; ATG4A APG4, S. CEREVISIAE, HOMOLOG OF, A; APG4A;; AUTOPHAGIN 2;; AUTL2
Asterisk 300664 SPANX FAMILY, MEMBER N1; SPANXN1
Asterisk 300665 SPANX FAMILY, MEMBER N2; SPANXN2
Asterisk 300666 SPANX FAMILY, MEMBER N3; SPANXN3
Asterisk 300667 SPANX FAMILY, MEMBER N4; SPANXN4
Asterisk 300668 SPANX FAMILY, MEMBER N5; SPANXN5
Asterisk 300669 SPANX FAMILY, MEMBER B1; SPANXB1 SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER B1;; SPANXB
Asterisk 300670 SPANX FAMILY, MEMBER D; SPANXD
Asterisk 300671 SPANX FAMILY, MEMBER E; SPANXE
Number Sign 300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2 INFANTILE SPASM SYNDROME, X-LINKED 2; ISSX2
Number Sign 300673 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
Asterisk 300674 MOTILE SPERM DOMAIN-CONTAINING PROTEIN 1; MOSPD1
Asterisk 300675 PARANEOPLASTIC MA ANTIGEN 3; PNMA3 PARANEOPLASTIC ANTIGEN MA3; MA3
Number Sign 300676 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14
Asterisk 300677 CHROMOSOME X OPEN READING FRAME 15; CXORF15 TAXILIN, GAMMA;; FACTOR INHIBITING ATF4-MEDIATED TRANSCRIPTION; FIAT
Asterisk 300678 DUAL-SPECIFICITY PHOSPHATASE 21; DUSP21 LMWDSP21
Number Sign 300679 CHROMOSOME Xp21 DELETION SYNDROME COMPLEX GLYCEROL KINASE DEFICIENCY
Asterisk 300680 PREGNANCY-UPREGULATED, NONUBIQUITOUS, CAM KINASE; PNCK CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I-BETA; CAMK1B;; BSTK3, MOUSE, HOMOLOG OF
Asterisk 300681 DEDICATOR OF CYTOKINESIS 11; DOCK11 ACTIVATED CDC42-ASSOCIATED GUANINE NUCLEOTIDE EXCHANGE FACTOR; ACG;; ZIZIMIN 2; ZIZ2
Asterisk 300682 MICRO RNA 424; MIR424 miRNA424;; MIRN424 MICRO RNA 322, INCLUDED; MIR322, INCLUDED;; miRNA322, INCLUDED;; MIRN322, INCLUDED
Asterisk 300683 SEPTIN 6; SEPT6 SEP2, DROSOPHILA, HOMOLOG OF; SEP2;; KIAA0128 SEPT6/MLL FUSION GENE, INCLUDED
Asterisk 300684 X KELL BLOOD GROUP PRECURSOR-RELATED, X-LINKED; XKRX MEMBRANE PROTEIN XPLAC; XPLAC;; XKR2;; XRG2
Asterisk 300685 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 3; PRRG3 PROLINE-RICH GLA PROTEIN 3; PRGP3;; TRANSMEMBRANE GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 3; TMG3
Asterisk 300686 MICRO RNA 448; MIR448 miRNA448;; MIRN448
Asterisk 300687 ERCC6-LIKE; ERCC6L PIK1-INTERACTING CHECKPOINT HELICASE; PICH
Asterisk 300688 BCL6 COREPRESSOR-LIKE 1; BCORL1
Asterisk 300689 START DOMAIN-CONTAINING PROTEIN 8; STARD8 DELETED IN LIVER CANCER 3; DLC3;; STARTGAP3;; KIAA0189
Asterisk 300690 BRAIN-EXPRESSED X-LINKED GENE 1; BEX1
Asterisk 300691 BRAIN-EXPRESSED X-LINKED GENE 2; BEX2
Asterisk 300692 BEX FAMILY MEMBER 4; BEX4 BRAIN-EXPRESSED X-LINKED GENE 4;; BRAIN-EXPRESSED X-LINKED GENE-LIKE 1; BEXL1
Asterisk 300693 BEX FAMILY MEMBER 5; BEX5 BRAIN-EXPRESSED X-LINKED GENE 5;; NGFRAP1-LIKE 1; NGFRAP1L1
Asterisk 300694 MICRO RNA 223; MIR223 miRNA223;; MIRN223
Number Sign 300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM SCAPULOPERONEAL MYOPATHY, FHL1-RELATED
Number Sign 300696 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, INCLUDED; EDMD6, INCLUDED
Asterisk 300697 HECT, UBA, AND WWE DOMAINS-CONTAINING PROTEIN 1; HUWE1 UPSTREAM REGULATORY ELEMENT-BINDING PROTEIN 1; UREB1;; URE-BINDING PROTEIN 1;; LASU1;; KIAA0312
Asterisk 300698 TRANSMEMBRANE PROTEIN 47; TMEM47 BRAIN CELL MEMBRANE PROTEIN 1; BCMP1
Number Sign 300699 MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE; MRXSW MENTAL RETARDATION, X-LINKED 94; MRX94;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 29; MRXS29
Percent 300700 ALBINISM-DEAFNESS SYNDROME; ADFN ALDS
Asterisk 300701 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 12; ZCCHC12 SMAD-INTERACTING ZINC FINGER PROTEIN 1; SIZN1
Asterisk 300702 MELANOMA ANTIGEN, FAMILY D, 4; MAGED4 MAGEE1;; KIAA1859
Percent 300703 SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5
Percent 300704 PROSTATE CANCER, HEREDITARY, X-LINKED 2; HPCX2
Number Sign 300705 CHROMOSOME Xp11.22 DUPLICATION SYNDROME MENTAL RETARDATION, X-LINKED 17; MRX17;; MENTAL RETARDATION, X-LINKED 31; MRX31
Number Sign 300706 MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST MENTAL RETARDATION AND MACROCEPHALY SYNDROME
Number Sign 300707 TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS; STAR STAR SYNDROME;; SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS
Asterisk 300708 FAMILY WITH SEQUENCE SIMILARITY 58, MEMBER A; FAM58A
Percent 300709 MENTAL RETARDATION, X-LINKED, SYNDROMIC 9; MRXS9
Percent 300710 ALOPECIA, ANDROGENETIC, 2; AGA2
Percent 300711 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 4; IHPS4
Percent 300712 CRANIOFACIOSKELETAL SYNDROME
Asterisk 300713 OTU DOMAIN-CONTAINING PROTEIN 5; OTUD5 DUBA
Asterisk 300714 OTU DOMAIN-CONTAINING PROTEIN 6A; OTUD6A DUBA2;; HIN6 PROTEASE
Asterisk 300715 MAGNESIUM TRANSPORTER 1; MAGT1 IAP
Percent 300716 MENTAL RETARDATION, X-LINKED 95; MRX95
Number Sign 300717 REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A
Number Sign 300718 REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET; RBMX1B
Percent 300719 DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES
Asterisk 300720 G ANTIGEN 2A; GAGE2A
Asterisk 300721 MICRO RNA LET7F2; MIRLET7F2 LET7, C. ELEGANS, HOMOLOG OF, F2; LET7F2;; miRNA LET7F2;; MIRNLET7F2
Asterisk 300722 MICRO RNA 19B2; MIR19B2 miRNA19B2;; MIRN19B2
Asterisk 300723 SYNAPTOTAGMIN-LIKE 4; SYTL4 GRANUPHILIN
Asterisk 300724 CONNECTOR ENHANCER OF KINASE SUPPRESSOR OF RAS 2; CNKSR2 CONNECTOR ENHANCER OF KSR 2;; CNK, DROSOPHILA, HOMOLOG OF, 2; CNK2;; KIAA0902
Asterisk 300725 RAS-RELATED GTP-BINDING PROTEIN B; RRAGB RAGB
Asterisk 300726 G ANTIGEN 2B; GAGE2B
Asterisk 300727 G ANTIGEN 12C; GAGE12C
Asterisk 300728 G ANTIGEN 12D; GAGE12D
Asterisk 300729 G ANTIGEN 12E; GAGE12E
Asterisk 300730 G ANTIGEN 12F; GAGE12F
Asterisk 300731 G ANTIGEN 12G; GAGE12G
Asterisk 300732 G ANTIGEN 12H; GAGE12H
Asterisk 300733 G ANTIGEN 12J; GAGE12J
Asterisk 300734 G ANTIGEN 13; GAGE13
Asterisk 300735 G ANTIGEN 2D; GAGE2D
Asterisk 300736 G ANTIGEN 2E; GAGE2E
Asterisk 300737 G ANTIGEN 10; GAGE10
Asterisk 300738 P ANTIGEN FAMILY, MEMBER 2; PAGE2 PROSTATE-ASSOCIATED GENE 2;; GAGEC2
Asterisk 300739 P ANTIGEN FAMILY, MEMBER 3; PAGE3 PROSTATE-ASSOCIATED GENE 3;; GAGED1
Asterisk 300740 X ANTIGEN FAMILY, MEMBER 3; XAGE3 PLACENTA-SPECIFIC 6; PLAC6
Asterisk 300741 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER C; FAM120C CHROMOSOME X OPEN READING FRAME 17; CXORF17
Asterisk 300742 X ANTIGEN FAMILY, MEMBER 1A; XAGE1A
Asterisk 300743 X ANTIGEN FAMILY, MEMBER 1B; XAGE1B
Asterisk 300744 X ANTIGEN FAMILY, MEMBER 1C; XAGE1C
Asterisk 300745 X ANTIGEN FAMILY, MEMBER 1E; XAGE1E
Asterisk 300746 COAGULATION FACTOR IX; F9 FACTOR IX;; PLASMA THROMBOPLASTIN COMPONENT; PTC
Asterisk 300747 STEROID SULFATASE; STS ARYLSULFATASE C; ARSC;; ESTRONE SULFATASE STEROID SULFATASE, ISOZYME S, INCLUDED
Asterisk 300748 G PROTEIN-COUPLED RECEPTOR 82; GPR82
Number Sign 300749 MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH MICPCH SYNDROME;; MENTAL RETARDATION, X-LINKED, SYNDROMIC, NAJM TYPE; MRXSNA
Percent 300750 SPASTIC PARAPLEGIA 34, X-LINKED; SPG34
Number Sign 300751 ANEMIA, SIDEROBLASTIC, 1; SIDBA1 ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA;; ANEMIA, HYPOCHROMIC; ANH1;; ANEMIA, HEREDITARY SIDEROBLASTIC;; HEREDITARY IRON-LOADING ANEMIA
Number Sign 300752 PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT; XLDPP;; ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED
Asterisk 300753 APOLIPOPROTEIN O; APOO MY025;; FAMILY WITH SEQUENCE SIMILARITY 121B; FAM121B;; MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 26-KD SUBUNIT; MIC26;; MICOS COMPLEX, 26-KD SUBUNIT
Asterisk 300754 TAF9B RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 31-KD; TAF9B TAF9L;; TAFII31L
Number Sign 300755 AGAMMAGLOBULINEMIA, X-LINKED; XLA BRUTON-TYPE AGAMMAGLOBULINEMIA;; AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; AGMX1;; IMMUNODEFICIENCY 1; IMD1 HYPOGAMMAGLOBULINEMIA, X-LINKED, INCLUDED
Percent 300756 ALZHEIMER DISEASE 16; AD16
Asterisk 300757 RP2 GENE; RP2
Number Sign 300758 HYPOSPADIAS 2, X-LINKED; HYSP2
Asterisk 300759 MELANOMA ANTIGEN, FAMILY E, 1; MAGEE1 DYSTROBREVIN-ASSOCIATED MAGE PROTEIN; DAMAGE;; KIAA1587
Asterisk 300760 MELANOMA ANTIGEN, FAMILY E, 2; MAGEE2
Asterisk 300761 MELANOMA ANTIGEN, FAMILY B, 10; MAGEB10
Asterisk 300762 MELANOMA ANTIGEN, FAMILY B, 16; MAGEB16
Asterisk 300763 MELANOMA ANTIGEN, FAMILY B, 17; MAGEB17
Asterisk 300764 MELANOMA ANTIGEN, FAMILY A, 9B; MAGEA9B
Asterisk 300765 MELANOMA ANTIGEN, FAMILY D, 4B; MAGED4B
Asterisk 300766 NFKB-ACTIVATING PROTEIN; NKAP
Asterisk 300767 REPLICATION PROTEIN A4; RPA4 RPA2, HOMOLOG OF;; REPLICATION PROTEIN A COMPLEX, 34-KD SUBUNIT, HOMOLOG OF
Asterisk 300768 CYLICIN 1; CYLC1
Asterisk 300769 MICRO RNA 224; MIR224 MIRN224;; miRNA224
Number Sign 300770 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 4;; PAP DUE TO CSF2RA DEFICIENCY;; CSF2RA DEFICIENCY
Asterisk 300771 TRANSCRIPTION ELONGATION FACTOR A-LIKE 7; TCEAL7
Asterisk 300772 TRANSCRIPTION FACTOR DP FAMILY, MEMBER 3; TFDP3 HEPATOCELLULAR CARCINOMA ANTIGEN 661; HCA661;; CANCER/TESTIS ANTIGEN 30; CT30;; E2F-LIKE;; DP4
Asterisk 300773 APEX NUCLEASE (APURINIC/APYRIMIDINIC ENDONUCLEASE) 2; APEX2 APE2;; XTH2;; APURINIC/APYRIMIDINIC ENDONUCLEASE LIKE-2; APEXL2;; APEX NUCLEASE-LIKE 2
Asterisk 300774 RAS-ASSOCIATED PROTEIN RAB39B; RAB39B
Asterisk 300775 E74-LIKE FACTOR 4; ELF4 MYELOID ELF1-LIKE FACTOR; MEF
Asterisk 300776 ALG13, S. CEREVISIAE, HOMOLOG OF; ALG13 ASPARAGINE-LINKED GLYCOSYLATION 13, S. CEREVISIAE, HOMOLOG OF;; GLYCOSYLTRANSFERASE 28 DOMAIN-CONTAINING 1; GLT28D1
Asterisk 300777 EPSILON-TRIMETHYLLYSINE HYDROXYLASE; TMLHE TMLH;; BUTYROBETAINE-GAMMA,2-OXOGLUTARATE DIOXYGENASE 2; BBOX2
Percent 300778 CORNEAL DYSTROPHY, LISCH EPITHELIAL; LECD LISCH EPITHELIAL CORNEAL DYSTROPHY;; BAND-SHAPED AND WHORLED MICROCYSTIC CORNEAL EPITHELIAL DYSTROPHY
Percent 300779 CORNEAL DYSTROPHY, ENDOTHELIAL, X-LINKED; XECD ENDOTHELIAL CORNEAL DYSTROPHY, X-LINKED
Asterisk 300780 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A1; CT47A1 CT47.1
Asterisk 300781 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A2; CT47A2 CT47.2
Asterisk 300782 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A3; CT47A3 CT47.3
Asterisk 300783 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A4; CT47A4 CT47.4
Asterisk 300784 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A5; CT47A5 CT47.5
Asterisk 300785 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A6; CT47A6 CT47.6
Asterisk 300786 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A7; CT47A7 CT47.7
Asterisk 300787 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A8; CT47A8 CT47.8
Asterisk 300788 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A9; CT47A9 CT47.9
Asterisk 300789 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A10; CT47A10 CT47.10
Asterisk 300790 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER B1; CT47B1 CT47A13;; CT47.13
Asterisk 300791 NIK-RELATED KINASE; NRK NIK-LIKE EMBRYO-SPECIFIC KINASE; NESK
Asterisk 300792 MICRO RNA 106A; MIR106A miRNA106A;; MIRN106A
Asterisk 300793 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A2; CT45A2 CANCER/TESTIS ANTIGEN 45, MEMBER 2; CT45.2
Asterisk 300794 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A3; CT45A3 CANCER/TESTIS ANTIGEN 45, MEMBER 3; CT45.3
Asterisk 300795 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A4; CT45A4 CANCER/TESTIS ANTIGEN 45, MEMBER 4; CT45.4
Asterisk 300796 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A5; CT45A5 CANCER/TESTIS ANTIGEN 45, MEMBER 5; CT45.5
Asterisk 300797 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A6; CT45A6 CANCER/TESTIS ANTIGEN 45, MEMBER 6; CT45.6
Asterisk 300798 PHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT; PHKA2
Number Sign 300799 MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR
Caret 300800 MOVED TO 103580
Number Sign 300801 CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME
Number Sign 300802 MENTAL RETARDATION, X-LINKED 96; MRX96
Number Sign 300803 MENTAL RETARDATION, X-LINKED 97; MRX97 MENTAL RETARDATION, X-LINKED 65; MRX65;; MRXZ
Number Sign 300804 JOUBERT SYNDROME 10; JBTS10
Asterisk 300805 FMR1 ANTISENSE RNA 1; FMR1AS1 ANTISENSE FMR1 GENE; ASFMR1;; FMR1 GENE, ANTISENSE
Asterisk 300806 AF4/FMR2 FAMILY, MEMBER 2; AFF2 FMR2 GENE; FMR2 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28) E, INCLUDED; FRAXE, INCLUDED
Number Sign 300807 THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8 DEEP VENOUS THROMBOSIS, PROTECTION AGAINST, INCLUDED
Asterisk 300808 G PROTEIN-COUPLED RECEPTOR 143; GPR143 OA1 GENE
Percent 300809 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 15; SLEB15
Asterisk 300810 MICRO RNA 98; MIR98 miRNA98;; MIRN98
Asterisk 300811 MICRO RNA 105-1; MIR105-1 miRNA105-1;; MIRN105-1
Asterisk 300812 MICRO RNA 105-2; MIR105-2 miRNA105-2;; MIRN105-2
NULL 300813 SARCOMA, SYNOVIAL
Number Sign 300814 NYSTAGMUS 6, CONGENITAL, X-LINKED; NYS6
Number Sign 300815 CHROMOSOME Xq28 DUPLICATION SYNDROME
Number Sign 300816 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6 ENCEPHALOMYOPATHY, MITOCHONDRIAL, X-LINKED
Asterisk 300817 EF-HAND DOMAIN (C-TERMINAL)-CONTAINING PROTEIN 2; EFHC2 EF-HAND DOMAIN-CONTAINING PROTEIN 2
Number Sign 300818 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1; PNH1
Asterisk 300819 ZINC FINGER PROTEIN 630; ZNF630
Asterisk 300820 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 15; MAP3K15 APOPTOSIS SIGNAL-REGULATING KINASE 3; ASK3
Asterisk 300821 OPSIN 1, MEDIUM-WAVE-SENSITIVE; OPN1MW GREEN CONE PIGMENT; GCP
Asterisk 300822 OPSIN 1, LONG-WAVE-SENSITIVE; OPN1LW RED CONE PIGMENT; RCP
Asterisk 300823 IDURONATE 2-SULFATASE; IDS
Asterisk 300824 OPN1LW AND OPN1MW GENES, CONTROLLER OF OPSIN LOCUS CONTROL REGION;; LOCUS CONTROL REGION, RED AND GREEN PHOTOPIGMENT GENES;; RED AND GREEN PIGMENT GENES, CONTROLLER OF
Asterisk 300825 RETINOBLASTOMA-BINDING PROTEIN 7; RBBP7
Asterisk 300826 STROMAL ANTIGEN 2; STAG2 COHESIN SUBUNIT SA2
Asterisk 300827 FIBROBLAST GROWTH FACTOR 16; FGF16
Asterisk 300828 PATCHED DOMAIN-CONTAINING PROTEIN 1; PTCHD1
Percent 300829 CARDIOMYOPATHY, FATAL FETAL, DUE TO MYOCARDIAL CALCIFICATION
Number Sign 300830 AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4 CHROMOSOME Xp22 DELETION SYNDROME
Number Sign 300831 CK SYNDROME MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION
Asterisk 300832 JUST PROXIMAL TO XIST; JPX NONCODING RNA 183; NCRNA00183;; ENOX
Number Sign 300833 46,XX SEX REVERSAL 3; SRXX3 CHROMOSOME Xq26 DUPLICATION SYNDROME;; 46,XX SEX REVERSAL, SOX3-RELATED CHROMOSOME Xq26 DELETION SYNDROME, INCLUDED
Number Sign 300834 MACULAR DEGENERATION, X-LINKED ATROPHIC
Number Sign 300835 ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES; XLANP
Asterisk 300836 KAL1 GENE; KAL1 KALLMANN SYNDROME INTERVAL GENE 1; KALIG1;; ADHESION MOLECULE-LIKE, X-LINKED; ADMLX;; ANOSMIN 1
Asterisk 300837 DIACYLGLYCEROL KINASE, KAPPA, 142-KD; DGKK
Asterisk 300838 FERM AND PDZ DOMAINS-CONTAINING PROTEIN 4; FRMPD4 PSD95-INTERACTING REGULATOR OF SPINE MORPHOGENESIS; PRESO;; KIAA0316
Asterisk 300839 RETINOSCHISIN; RS1
Asterisk 300840 PRA1 DOMAIN FAMILY, MEMBER 2; PRAF2 JM4
Asterisk 300841 COAGULATION FACTOR VIII; F8 FACTOR VIII;; COAGULATION FACTOR VIIIC, PROCOAGULANT COMPONENT; F8C
Number Sign 300842 MCLEOD SYNDROME; MCLDS MCLEOD PHENOTYPE;; NEUROACANTHOCYTOSIS, MCLEOD TYPE MCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE, INCLUDED
Percent 300843 BORNHOLM EYE DISEASE; BED MYOPIA, HIGH, WITH NONPROGRESSIVE CONE DYSFUNCTION
Number Sign 300844 MENTAL RETARDATION, X-LINKED 19; MRX19
Number Sign 300845 MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM; MYMY4 CHROMOSOME Xq28 DELETION SYNDROME, 3.4-KB;; SYNDROMIC MOYAMOYA DISEASE
Asterisk 300846 CD99 ANTIGEN-LIKE 2; CD99L2 CD99B
Number Sign 300847 AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5
Percent 300848 MENTAL RETARDATION, X-LINKED 89; MRX89
Number Sign 300849 MENTAL RETARDATION, X-LINKED 41; MRX41 MENTAL RETARDATION, X-LINKED 48; MRX48
Number Sign 300850 MENTAL RETARDATION, X-LINKED 90; MRX90
Percent 300851 MENTAL RETARDATION, X-LINKED 92; MRX92
Percent 300852 MENTAL RETARDATION, X-LINKED 88; MRX88
Number Sign 300853 IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN
Number Sign 300854 RENAL CELL CARCINOMA, Xp11-ASSOCIATED; RCCX1
Number Sign 300855 OGDEN SYNDROME; OGDNS N-TERMINAL ACETYLTRANSFERASE DEFICIENCY; NATD
Percent 300856 HYPOSPADIAS 4, X-LINKED, SUSCEPTIBILITY TO; HYSP4
Number Sign 300857 AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS15
Percent 300858 MENTAL RETARDATION, X-LINKED, SYNDROMIC 17; MRXS17 MENTAL RETARDATION, X-LINKED, WITH ALACRIMA AND ACHALASIA
Asterisk 300859 COILED-COIL DOMAIN-CONTAINING PROTEIN 22; CCDC22
Number Sign 300860 MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN MENTAL RETARDATION, X-LINKED, SYNDROMIC 30; MRXS30
Percent 300861 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE; MRXSCS MENTAL RETARDATION, X-LINKED, WITH SEIZURES, HYPOGAMMAGLOBULINEMIA, AND GAIT DISTURBANCE
Asterisk 300862 ACYL-CoA THIOESTERASE 9; ACOT9 MITOCHONDRIAL ACYL-CoA THIOESTERASE, 48-KD; MTACT48
Number Sign 300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
NULL 300864 CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Asterisk 300865 MICRO RNA 503; MIR503 miRNA503
Asterisk 300866 MICRO RNA 510; MIR510 miRNA510
Number Sign 300867 KABUKI SYNDROME 2; KABUK2
Number Sign 300868 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20; EIEE20;; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4; GPIBD4
Number Sign 300869 CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME
Percent 300870 ANEURYSM, INTRACRANIAL BERRY, 5; ANIB5
Asterisk 300871 FUN14 DOMAIN-CONTAINING PROTEIN 1; FUNDC1
Number Sign 300872 AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6 EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY; TMLHED
Asterisk 300873 GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 3-LIKE PROTEIN; GNL3L GNL3-LIKE PROTEIN
Asterisk 300874 MICRO RNA 508; MIR508 miRNA508;; MIRN508
Asterisk 300875 MICRO RNA 509-1; MIR509-1 miRNA509-1;; MIRN509-1;; MICRO RNA 509; MIR509
Asterisk 300876 MICRO RNA 509-3; MIR509-3 miRNA509-3;; MIRN509-3
Asterisk 300877 MICRO RNA 506; MIR506 miRNA506;; MIRN506
Asterisk 300878 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR C1; DMRTC1
Asterisk 300879 XG GLYCOPROTEIN; XG PBDX
Asterisk 300880 PROTEASOME 26S SUBUNIT, NON-ATPase, 10; PSMD10 p28;; GANKYRIN;; p28(GANK)
Percent 300881 BARATELA-SCOTT SYNDROME
Number Sign 300882 CORNELIA DE LANGE SYNDROME 5; CDLS5
Asterisk 300883 SORTING NEXIN 12; SNX12
Number Sign 300884 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36; EIEE36 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is, INCLUDED; CDG1S, INCLUDED;; CDG Is, INCLUDED; CDGIs, INCLUDED
Asterisk 300885 CYTOCHROME c OXIDASE, SUBUNIT 7B; COX7B CYTOCHROME c OXIDASE, SUBUNIT VIIb
Number Sign 300886 MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32
Number Sign 300887 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIAL DYSMORPHISM, AND OTHER CONGENITAL ANOMALIES; APLCC
Number Sign 300888 HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT; CHTE
Asterisk 300889 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12B; ZC3H12B MCP1-INDUCED PROTEIN 2; MCPIP2
Asterisk 300890 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 9; ASB9
Asterisk 300891 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 12; ASB12
Asterisk 300892 LONG INTERGENIC NONCODING RNA 850; LINC00850 KUCG1
Asterisk 300893 MICRO RNA 502; MIR502 miRNA502
Number Sign 300894 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN;; STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD; SENDA
Number Sign 300895 OHDO SYNDROME, X-LINKED; OHDOX BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE
Number Sign 300896 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M CDG IIm; CDGIIm;; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; EIEE22
Asterisk 300897 ZINC FINGER C4H2 DOMAIN-CONTAINING PROTEIN; ZC4H2 KIAA1166
Asterisk 300898 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 1, ANTISENSE; CDR1AS CDR1 ANTISENSE TRANSCRIPT;; CIRCULAR RNA SPONGE FOR MIR7; CIRS7
Asterisk 300899 RIBOSOMAL PROTEIN L39; RPL39
Caret 300900 REMOVED FROM DATABASE
Asterisk 300901 X-ACTIVE-SPECIFIC NONCODING TRANSCRIPT; XACT ACTIVE X CHROMOSOME-COATING TRANSCRIPT, NONCODING;; X-ACTIVE-COATING TRANSCRIPT;; LONG INTERGENIC NONCODING RNA XACT;; lincRNA XACT
Asterisk 300902 RIBOSOMAL PROTEIN L36A; RPL36A RPL44, YEAST, HOMOLOG OF; RPL44
Asterisk 300903 G PROTEIN-COUPLED RECEPTOR 174; GPR174 GPCR17
Asterisk 300904 INSULIN RECEPTOR SUBSTRATE 4; IRS4
Number Sign 300905 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6; CMTX6 CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6
Asterisk 300906 PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 3; PDK3
Asterisk 300907 CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 2, 64-KD; CSTF2 CSTF64
Number Sign 300908 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY FAVISM, SUSCEPTIBILITY TO
Number Sign 300909 ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO; AEACEI
Number Sign 300910 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18; BMND18 OSTEOPOROSIS AND OSTEOPOROTIC FRACTURES, SUSCEPTIBILITY TO
Number Sign 300911 PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS
Number Sign 300912 MENTAL RETARDATION, X-LINKED 98; MRX98
Asterisk 300913 VMA21, S. CEREVISIAE, HOMOLOG OF; VMA21
Number Sign 300914 DEAFNESS, X-LINKED 6; DFNX6
Number Sign 300915 MICROPHTHALMIA, SYNDROMIC 13; MCOPS13 MAINE MICROPHTHALMOS;; COLOBOMATOUS MICROPHTHALMIA WITH MICROCEPHALY, SHORT STATURE, AND PSYCHOMOTOR RETARDATION
Asterisk 300916 PARANEOPLASTIC MA ANTIGEN FAMILY, MEMBER 5; PNMA5 PARANEOPLASTIC ANTIGEN-LIKE PROTEIN 5;; KIAA1934
Asterisk 300917 PARANEOPLASTIC MA ANTIGEN FAMILY, MEMBER 6A; PNMA6A PARANEOPLASTIC ANTIGEN-LIKE PROTEIN 6A;; PNMA6
Number Sign 300918 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED OLMSTED SYNDROME, X-LINKED; OLMSX
Number Sign 300919 MENTAL RETARDATION, X-LINKED 99; MRX99
Asterisk 300920 ATAXIN 3-LIKE; ATXN3L
Asterisk 300921 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 9; BHLHB9 p60 TRANSCRIPTION REGULATOR PROTEIN; p60TRP;; KIAA1701
Asterisk 300922 CYSTEINE-RICH HYDROPHOBIC DOMAIN PROTEIN 1; CHIC1 BRAIN X-LINKED GENE; BRX
Number Sign 300923 MENTAL RETARDATION, X-LINKED 100; MRX100
Asterisk 300924 ACYL-CoA WAX ALCOHOL ACYLTRANSFERASE 1; AWAT1 DIACYL-GLYCEROL ACYLTRANSFERASE 2; DGA2
Asterisk 300925 ACYL-CoA WAX ALCOHOL ACYLTRANSFERASE 2; AWAT2 WAX SYNTHASE;; DIACYLGLYCEROL O-ACYLTRANSFERASE CANDIDATE 4; DC4;; MFAT
Asterisk 300926 DIACYLGLYCEROL O-ACYLTRANSFERASE 2-LIKE 6; DGAT2L6 DIACYLGLYCEROL O-ACYLTRANSFERASE CANDIDATE 3; DC3
Asterisk 300927 PEROXIREDOXIN 4; PRDX4 ANTIOXIDANT ENZYME 372; AOE372
Number Sign 300928 MENTAL RETARDATION, X-LINKED 101; MRX101
Asterisk 300929 MICRO RNA 718; MIR718 miRNA718
Asterisk 300930 MAP7 DOMAIN-CONTAINING PROTEIN 3; MAP7D3 MDP3
Asterisk 300931 PIRIN; PIR
Number Sign 300932 THYROXINE-BINDING GLOBULIN QUANTITATIVE TRAIT LOCUS; TBGQTL
Asterisk 300933 PIH1 DOMAIN-CONTAINING PROTEIN 3; PIH1D3
Number Sign 300934 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy; CDG1Y CDG IY; CDGIy
Asterisk 300935 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 1; PRRG1 PROLINE-RICH GLA PROTEIN 1; PRGP1
Asterisk 300936 FTX TRANSCRIPT, XIST REGULATOR, NONCODING; FTX GENE 5-PRIME TO XIST;; LONG INTERGENIC NONCODING RNA 182; LINC00182;; lincRNA 182
Asterisk 300937 RHO GTPase-ACTIVATING PROTEIN 36; ARHGAP36
Asterisk 300938 MATRIX REMODELING-ASSOCIATED PROTEIN 5; MXRA5 ADLICAN
Asterisk 300939 THYMOSIN, BETA-15A; TMSB15A
Asterisk 300940 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE DOMAIN-CONTAINING PROTEIN 2; GDPD2 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 3; GDE3
Asterisk 300941 SOLUTE CARRIER FAMILY 25, MEMBER 53; SLC25A53 MITOCHONDRIAL CARRIER TRIPLE REPEAT 6; MCART6
Number Sign 300942 CHROMOSOME Xq26.3 DUPLICATION SYNDROME CHROMOSOME Xq26 MICRODUPLICATION SYNDROME;; X-LINKED ACROGIGANTISM; XLAG
Number Sign 300943 PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA2 ACROMEGALY DUE TO PITUITARY ADENOMA 2;; ACROMEGALY, X-LINKED
Asterisk 300944 CSAG FAMILY, MEMBER 1; CSAG1 CHONDROSARCOMA-ASSOCIATED GENE; CSAGE
Asterisk 300945 TSR2, 20S rRNA ACCUMULATION, S. CEREVISIAE, HOMOLOG OF; TSR2 WGG MOTIF-CONTAINING PROTEIN 1; WGG1
Number Sign 300946 DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14
Asterisk 300947 COILED-COIL DOMAIN-CONTAINING PROTEIN 120; CCDC120
Asterisk 300948 PHOSPHATE CYTIDYLYLTRANSFERASE 1, CHOLINE, BETA ISOFORM; PCYT1B CCT-BETA
Asterisk 300949 FORKHEAD BOX R2; FOXR2 FORKHEAD BOX N6; FOXN6
Asterisk 300950 MICRO RNA 20B; MIR20B miRNA20B
Asterisk 300951 RING FINGER PROTEIN 113A; RNF113A ZINC FINGER PROTEIN 183; ZNF183
Number Sign 300952 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES
Number Sign 300953 TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5
Asterisk 300954 CHROMOSOME X OPEN READING FRAME 40A; CXORF40A ENDOTHELIAL-OVEREXPRESSED LIPOPOLYSACCHARIDE-ASSOCIATED FACTOR 1; EOLA1
Asterisk 300955 APOLIPOPROTEIN O-LIKE; APOOL FAMILY WITH SEQUENCE SIMILARITY 121A; FAM121A;; CHROMOSOME X OPEN READING FRAME 33; CXORF33;; MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 27-KD SUBUNIT; MIC27;; MICOS COMPLEX, 27-KD SUBUNIT
Asterisk 300956 BRAF PSEUDOGENE 1; BRAFP1 LONG NONCODING RNA BRAFP1;; lncRNA BRAFP1
Number Sign 300957 MENTAL RETARDATION, X-LINKED 12; MRX12 MENTAL RETARDATION, X-LINKED 35; MRX35
Number Sign 300958 MENTAL RETARDATION, X-LINKED 102; MRX102
Asterisk 300959 CHROMOSOME X OPEN READING FRAME 36; CXORF36 DIA1-RELATED PROTEIN; DIA1R
Number Sign 300960 MEND SYNDROME; MEND MALE EBP DISORDER WITH NEUROLOGIC DEFECTS
Asterisk 300961 MID1-INTERACTING PROTEIN 1; MID1IP1 MIG12
Asterisk 300962 GEM-ASSOCIATED PROTEIN 8; GEMIN8 FAMILY WITH SEQUENCE SIMILARITY 51, MEMBER A1; FAM51A1
Number Sign 300963 RITSCHER-SCHINZEL SYNDROME 2; RTSC2
Asterisk 300964 LAS1-LIKE RIBOSOME BIOGENESIS FACTOR; LAS1L LAS1, S. CEREVISIAE, HOMOLOG OF
Asterisk 300965 RETROTRANSPOSON GAG DOMAIN-CONTAINING PROTEIN 1; RGAG1 MAMMALIAN RETROTRANSPOSON-DERIVED GENE 9; MART9; MAR9;; KIAA1318
Number Sign 300966 MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33
Number Sign 300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE; MRXSML
Number Sign 300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F
Asterisk 300969 G PROTEIN-COUPLED RECEPTOR-ASSOCIATED SORTING PROTEIN 2; GPRASP2 GASP2
Asterisk 300970 MORC FAMILY CW-TYPE ZINC FINGER PROTEIN 4; MORC4 ZINC FINGER CW DOMAIN PROTEIN 4: ZCW4;; ZINC FINGER CW DOMAIN- AND COILED-COIL DOMAIN-CONTAINING PROTEIN 2; ZCWCC2
Number Sign 300971 BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT; BARTS5
Number Sign 300972 IMMUNODEFICIENCY 47; IMD47 IMMUNODEFICIENCY AND HEPATOPATHY WITH OR WITHOUT NEUROLOGIC FEATURES
Asterisk 300973 RHOX HOMEOBOX FAMILY MEMBER 1, PSEUDOGENE 1; RHOXF1P1 lncRHOXF1
Asterisk 300974 PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC, X DOMAIN-CONTAINING PROTEIN 1; PLCXD1 PIPLC X DOMAIN-CONTAINING PROTEIN 1
Asterisk 300975 UBIQUITIN-SPECIFIC PROTEASE 27, X-LINKED; USP27X USP27;; USP22-LIKE; USP22L
Asterisk 300976 FAMILY WITH SEQUENCE SIMILARITY 46, MEMBER D; FAM46D
Percent 300977 SCHOLTE SYNDROME; SHLTS EARLY BALDING, PATELLA LUXATION, ACROMICRIA, AND HYPOGONADISM
Number Sign 300978 MENTAL RETARDATION, X-LINKED 61; MRX61
Number Sign 300979 Xq25 DUPLICATION SYNDROME Xq25 TRIPLICATION SYNDROME, INCLUDED
Asterisk 300980 KELCH-LIKE 15; KLHL15 KIAA1677
Asterisk 300981 VARIABLY CHARGED, X CHROMOSOME, 3B; VCX3B VARIABLY CHARGED, X CHROMOSOME, C; VCXC
Number Sign 300982 MENTAL RETARDATION, X-LINKED 103; MRX103
Number Sign 300983 MENTAL RETARDATION, X-LINKED 104; MRX104
Number Sign 300984 MENTAL RETARDATION, X-LINKED 105; MRX105
Number Sign 300985 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED; CBAVDX
Number Sign 300986 MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB
Caret 300987 MOVED TO 300148
Number Sign 300988 IMMUNODEFICIENCY 50; IMD50 IMMUNODEFICIENCY 50, X-LINKED RECESSIVE
Number Sign 300989 MEESTER-LOEYS SYNDROME; MRLS
Number Sign 300990 MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN
Number Sign 300991 CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED; CILD36 CILIARY DYSKINESIA, PRIMARY, 36, WITH OR WITHOUT SITUS INVERSUS
Asterisk 300992 NEGATIVE REGULATOR OF P-BODY ASSOCIATION; NBDY LONG INTERGENIC NONCODING RNA 1420; LINC01420;; NONANNOTATED P-BODY-DISSOCIATING POLYPEPTIDE; NOBODY
Asterisk 300993 PAS DOMAIN-CONTAINING REPRESSOR 1; PASD1 CANCER-TESTIS ANTIGEN 63; CT63;; OXTES1
Asterisk 300994 HIGHLY DIVERGENT HOMEOBOX; HDX CHROMOSOME X OPEN READING FRAME 43; CXORF43
Asterisk 300995 KIAA1210 GENE; KIAA1210
Asterisk 300996 YIP1 DOMAIN FAMILY, MEMBER 6; YIPF6
Number Sign 300997 MENTAL RETARDATION, X-LINKED 106; MRX106
Number Sign 300998 MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35
Asterisk 300999 FUNCTIONAL INTERGENIC REPEATING RNA ELEMENT; FIRRE LONG INTERGENIC NONCODING RNA 1200; LINC01200
Number Sign 301000 WISKOTT-ALDRICH SYNDROME; WAS WISKOTT-ALDRICH SYNDROME 1; WAS1;; ALDRICH SYNDROME;; ECZEMA-THROMBOCYTOPENIA-IMMUNODEFICIENCY SYNDROME;; IMMUNODEFICIENCY 2; IMD2
Asterisk 301001 DXZ4-ASSOCIATED NONCODING TRANSCRIPT 1, PROXIMAL; DANT1
Asterisk 301002 PROTEIN KINASE, SERINE/ARGININE-SPECIFIC, 3; SRPK3 PROTEIN KINASE, ARGININE/SERINE-RICH SPLICING FACTOR, 3;; SRSF PROTEIN KINASE 3; SRPK3;; MUSCLE-SPECIFIC SERINE KINASE 1; MSSK1;; STK23
Asterisk 301003 G-PATCH DOMAIN AND KOW MOTIFS; GPKOW G-PATCH DOMAIN-CONTAINING PROTEIN 5; GPATCH5; GPATC5
Asterisk 301004 DXZ4-ASSOCIATED NONCODING TRANSCRIPT 2, DISTAL; DANT2
Asterisk 301005 FERM- AND PDZ DOMAIN-CONTAINING PROTEIN 3; FRMPD3 KIAA1817
Number Sign 301006 GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2
Asterisk 301007 ZINC FINGER, MATRIN-TYPE 1; ZMAT1 KIAA1789
Number Sign 301008 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG
Asterisk 301009 P ANTIGEN FAMILY, MEMBER 5; PAGE5 PROSTATE-ASSOCIATED GENE 5;; CANCER-TESTIS ANTIGEN 16; CT16;; G ANTIGEN FAMILY E, MEMBER 1; GAGEE1
Number Sign 301010 MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26
Asterisk 301011 THYMOSIN, BETA-15B; TMSB15B
Number Sign 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE;; ATR-X SYNDROME;; ATR, NONDELETION TYPE
Number Sign 301050 ALPORT SYNDROME, X-LINKED; ATS NEPHROPATHY AND DEAFNESS, X-LINKED
Caret 301090 MOVED TO 273395
Caret 301100 MOVED TO 301200
Number Sign 301200 AMELOGENESIS IMPERFECTA, TYPE IE; AI1E AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1;; AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH;; AMELOGENESIS IMPERFECTA, X-LINKED 1; AIH1;; ENAMEL HYPOPLASIA, X-LINKED
Percent 301201 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE, FORMERLY; AIH3, FORMERLY;; ENAMEL HYPOPLASIA, X-LINKED
Number Sign 301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR XLPDR
Asterisk 301300 DELTA-AMINOLEVULINATE SYNTHASE 2; ALAS2 ALAS, ERYTHROID; ALASE;; 5-AMINOLEVULINATE SYNTHASE, ERYTHROID-SPECIFIC
Number Sign 301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT
NULL 301410 NEURAL TUBE DEFECTS, X-LINKED SPINA BIFIDA, X-LINKED, INCLUDED
Number Sign 301500 FABRY DISEASE ANGIOKERATOMA CORPORIS DIFFUSUM;; ANDERSON-FABRY DISEASE;; HEREDITARY DYSTOPIC LIPIDOSIS;; ALPHA-GALACTOSIDASE A DEFICIENCY;; GLA DEFICIENCY;; CERAMIDE TRIHEXOSIDASE DEFICIENCY FABRY DISEASE, CARDIAC VARIANT, INCLUDED
Percent 301590 MICROPHTHALMIA, SYNDROMIC 4; MCOPS4 MICROPHTHALMIA WITH ANKYLOBLEPHARON AND MENTAL RETARDATION;; ANOP1, FORMERLY
NULL 301700 ANOSMIA
Asterisk 301770 ARRESTIN 3, RETINAL; ARR3 X-ARRESTIN; ARRX;; CONE ARRESTIN;; ARRESTIN 4; ARR4
Asterisk 301780 ARYLSULFATASE C, ISOZYME F; ARSC2 ARSC, f FORM
NULL 301790 SPINOCEREBELLAR ATAXIA, X-LINKED 3 SCAX3;; ATAXIA-DEAFNESS SYNDROME, X-LINKED
NULL 301800 ANUS, IMPERFORATE
Caret 301810 MOVED TO 215700
NULL 301815 ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY
Caret 301820 MOVED TO 208085
Number Sign 301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2 SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE;; SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED; XLSMA;; ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED;; AMC, DISTAL, X-LINKED;; ARTHROGRYPOSIS, X-LINKED, TYPE I; AMCX1
Number Sign 301835 ARTS SYNDROME; ARTS MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE; MRXSARTS;; ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 18; MRXS18
NULL 301840 SPINOCEREBELLAR ATAXIA, X-LINKED 4 SCAX4;; ATAXIA-DEMENTIA SYNDROME, X-LINKED
Percent 301845 BAZEX SYNDROME; BZX BAZEX-DUPRE-CHRISTOL SYNDROME; BDCS;; FOLLICULAR ATROPHODERMA AND BASAL CELL CARCINOMAS
NULL 301850 TUBULIN, BETA
Asterisk 301870 BIGLYCAN; BGN PROTEOGLYCAN I; PGI
Caret 301880 REMOVED FROM DATABASE
Number Sign 301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE; MRXSBFL;; BORJESON SYNDROME; BORJ;; MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS
NULL 301940 BRACHYDACTYLY, MONONEN TYPE THUMBS AND GREAT TOES, SHORT AND ABDUCTED
NULL 301950 BRANCHIAL ARCH SYNDROME, X-LINKED MANDIBULOFACIAL DYSOSTOSIS, TORIELLO TYPE
Percent 302000 BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE EPIDERMOLYSIS BULLOSA, MACULAR TYPE; EBM
Asterisk 302020 S100 CALCIUM-BINDING PROTEIN G; S100G CALBINDIN 3; CALB3;; VITAMIN D-DEPENDENT CALCIUM-BINDING PROTEIN; CABP9K; CABP1;; CALBINDIN D9K
NULL 302030 CALVARIAL HYPEROSTOSIS
Number Sign 302045 CARDIOMYOPATHY, DILATED, 3B; CMD3B CARDIOMYOPATHY, DILATED, X-LINKED; XLCM
Number Sign 302060 BARTH SYNDROME; BTHS CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA;; 3-METHYLGLUTACONIC ACIDURIA, TYPE II; MGCA2;; MGA, TYPE II; MGA2
Number Sign 302200 CATARACT 40; CTRCT40 CATARACT 40 WITH OR WITHOUT MICROCORNEA;; CATARACT, CONGENITAL, X-LINKED; CXN;; CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; CCT
Caret 302300 MOVED TO 302200
Number Sign 302350 NANCE-HORAN SYNDROME; NHS CATARACT-DENTAL SYNDROME;; CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH;; MESIODENS-CATARACT SYNDROME
Caret 302380 MOVED TO 616145
NULL 302400 CENTRAL INCISORS, ABSENCE OF
Number Sign 302500 SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1 OLIVOPONTOCEREBELLAR ATROPHY, X-LINKED;; OPCA, X-LINKED; OPCAX
NULL 302600 SPINOCEREBELLAR ATAXIA, X-LINKED 2 SCAX2;; CEREBELLAR ATAXIA WITH EXTRAPYRAMIDAL INVOLVEMENT, EARLY-ONSET
Asterisk 302650 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 1; CDR1 CDR;; CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN, 34-KD; CDR34
NULL 302700 CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE
Number Sign 302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1 CMTX;; CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED;; HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED;; HMSN, X-LINKED;; CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1;; CMT2, FORMERLY
Percent 302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2 CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 2
Percent 302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3 CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 3
NULL 302803 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA CUTIS CONGENITA
NULL 302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED
Number Sign 302905 ABRUZZO-ERICKSON SYNDROME; ABERS CHARGE-LIKE SYNDROME, X-LINKED
Asterisk 302910 CHLORIDE CHANNEL 4; CLCN4 CHLORIDE CHANNEL, VOLTAGE-GATED, 4
Caret 302920 MOVED TO 305425
Caret 302940 MOVED TO 302950
Number Sign 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 CPXR;; CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC
Number Sign 302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2 CDPXD; CPXD;; CONRADI-HUNERMANN SYNDROME;; HAPPLE SYNDROME;; CONRADI-HUNERMANN-HAPPLE SYNDROME
Number Sign 303100 CHOROIDEREMIA; CHM TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE; TCD CHOROIDAL SCLEROSIS, INCLUDED
Number Sign 303110 CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION CHROMOSOME Xq21 DELETION SYNDROME
Number Sign 303350 MASA SYNDROME MENTAL RETARDATION, APHASIA, SHUFFLING GAIT, AND ADDUCTED THUMBS;; SPASTIC PARAPLEGIA 1, X-LINKED; SPG1;; CLASPED THUMB AND MENTAL RETARDATION;; THUMB, CONGENITAL CLASPED, WITH MENTAL RETARDATION;; ADDUCTED THUMB WITH MENTAL RETARDATION;; GAREIS-MASON SYNDROME;; CRASH SYNDROME
Number Sign 303400 CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED; CPX
Number Sign 303600 COFFIN-LOWRY SYNDROME; CLS
Asterisk 303630 COLLAGEN, TYPE IV, ALPHA-5; COL4A5 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-5 CHAIN
Asterisk 303631 COLLAGEN, TYPE IV, ALPHA-6; COL4A6 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-6
NULL 303650 COLONIC ATRESIA
Number Sign 303700 BLUE CONE MONOCHROMACY; BCM BLUE CONE MONOCHROMATISM;; COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE; CBBM CONE DYSTROPHY 5, X-LINKED, INCLUDED; COD5, INCLUDED
Number Sign 303800 COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD DEUTAN COLORBLINDNESS; DCB;; DEUTERANOPIA;; GREEN COLORBLINDNESS DEUTERANOMALY, INCLUDED
Number Sign 303900 COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP PROTANOPIA;; RED COLORBLINDNESS PROTANOMALY, INCLUDED
Caret 304000 MOVED TO 613522
Number Sign 304020 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 CONE DYSTROPHY 1, X-LINKED; COD1
NULL 304030 CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN
Asterisk 304040 GAP JUNCTION PROTEIN, BETA-1; GJB1 GAP JUNCTION PROTEIN, 32-KD;; CONNEXIN 32; CX32;; LIVER CONNEXIN
Percent 304050 AICARDI SYNDROME; AIC CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY
Number Sign 304100 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
Number Sign 304110 CRANIOFRONTONASAL SYNDROME; CFNS CRANIOFRONTONASAL DYSPLASIA; CFND;; CRANIOFRONTONASAL DYSOSTOSIS
Number Sign 304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2 OPD II SYNDROME;; OPD SYNDROME 2;; CRANIOORODIGITAL SYNDROME;; FACIOPALATOOSSEOUS SYNDROME; FPO
Number Sign 304150 OCCIPITAL HORN SYNDROME; OHS CUTIS LAXA, X-LINKED, FORMERLY;; EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY;; EDS IX, FORMERLY;; EDS9, FORMERLY
NULL 304200 CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION
NULL 304300 CYANIDE, INABILITY TO SMELL
Number Sign 304340 PETTIGREW SYNDROME; PGS MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;; MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASAL GANGLIA DISEASE, AND SEIZURES;; MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;; MENTAL RETARDATION, X-LINKED 59; MRX59;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21
NULL 304350 DEAFNESS-HYPOGONADISM SYNDROME DHS
Number Sign 304400 DEAFNESS, X-LINKED 2; DFNX2 DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION;; DEAFNESS 3, CONDUCTIVE, WITH STAPES FIXATION; DFN3;; PERILYMPHATIC GUSHER-DEAFNESS SYNDROME;; DEAFNESS, MIXED, WITH PERILYMPHATIC GUSHER;; NANCE DEAFNESS;; SENSORINEURAL DEAFNESS, PROFOUND, WITH OR WITHOUT A CONDUCTIVE COMPONENT, ASSOCIATED WITH A UNIQUE DEVELOPMENTAL ABNORMALITY OF THE EAR
Number Sign 304500 DEAFNESS, X-LINKED 1; DFNX1 DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL; DFN2
Caret 304590 MOVED TO 304500
Caret 304600 MOVED TO 304590
Number Sign 304700 MOHR-TRANEBJAERG SYNDROME; MTS DYSTONIA-DEAFNESS SYNDROME; DDS;; DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME; DDP;; DEAFNESS SYNDROME, PROGRESSIVE, WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY;; OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA;; JENSEN SYNDROME
Percent 304730 DERMOIDS OF CORNEA; CND
Caret 304750 MOVED TO 306955
Number Sign 304790 IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX X-LINKED AUTOIMMUNITY-ALLERGIC DYSREGULATION SYNDROME; XLAAD;; IDDM-SECRETORY DIARRHEA SYNDROME; DMSD;; AUTOIMMUNITY-IMMUNODEFICIENCY SYNDROME, X-LINKED;; DIARRHEA, POLYENDOCRINOPATHY, FATAL INFECTION SYNDROME, X-LINKED;; ENTEROPATHY, AUTOIMMUNE, WITH HEMOLYTIC ANEMIA AND POLYENDOCRINOPATHY;; POLYENDOCRINOPATHY, IMMUNE DYSFUNCTION, AND DIARRHEA, X-LINKED; XPID;; DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA;; IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FORMERLY ISLETS OF LANGERHANS, ABSENCE OF, INCLUDED
Number Sign 304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED NDI;; DIABETES INSIPIDUS, NEPHROGENIC, TYPE I
NULL 304900 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE
Caret 304930 MOVED TO 304790
NULL 304950 DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED
Caret 304990 REMOVED FROM DATABASE
Number Sign 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKCX ZINSSER-COLE-ENGMAN SYNDROME HOYERAAL-HREIDARSSON SYNDROME, INCLUDED; HHS, INCLUDED;; CEREBELLAR HYPOPLASIA WITH PANCYTOPENIA, INCLUDED;; GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA, INCLUDED
Caret 305050 MOVED TO 304700
Number Sign 305100 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED; ECTD1;; XLHED;; ECTODERMAL DYSPLASIA, ANHIDROTIC, X-LINKED; EDA;; EDA1;; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1; HED1;; ECTODERMAL DYSPLASIA 1; ED1;; CHRIST-SIEMENS-TOURAINE SYNDROME;; CST SYNDROME
Percent 305200 EHLERS-DANLOS SYNDROME, TYPE V EDS5;; EDS V
Caret 305300 MOVED TO 302060
NULL 305350 EPIDERMODYSPLASIA VERRUCIFORMIS, X-LINKED; EDVX; EDV2
Asterisk 305360 MEMBRANE PROTEIN, PALMITOYLATED 1; MPP1 ERYTHROCYTE MEMBRANE PROTEIN p55; EMP55;; PALMITOYLATED ERYTHROCYTE MEMBRANE PROTEIN; PEMP
Asterisk 305370 TISSUE INHIBITOR OF METALLOPROTEINASE 1; TIMP1 TIMP;; ERYTHROID POTENTIATING ACTIVITY; EPA;; COLLAGENASE INHIBITOR, HUMAN; HCI
Asterisk 305371 GATA-BINDING PROTEIN 1; GATA1 ERYTHROID TRANSCRIPTION FACTOR 1; ERYF1;; GLOBIN TRANSCRIPTION FACTOR 1; GF1;; TRANSCRIPTION FACTOR GATA1
Number Sign 305390 EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2 EXUDATIVE VITREORETINOPATHY, FAMILIAL, 2;; EVRX;; FEVR, X-LINKED; FEVRX
Number Sign 305400 AARSKOG-SCOTT SYNDROME; AAS FACIOGENITAL DYSPLASIA; FGDY;; FACIODIGITOGENITAL SYNDROME;; AARSKOG SYNDROME, X-LINKED FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER, INCLUDED;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 16, INCLUDED; MRXS16, INCLUDED
Asterisk 305423 FACTOR VIII-ASSOCIATED GENE 1; F8A DXS522E;; HAP40
Asterisk 305424 FACTOR VIII-ASSOCIATED GENE 2 F8B;; DXS1253E
Caret 305425 MOVED TO 134629
Percent 305435 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HBFQTL3 F-CELL PRODUCTION, X-LINKED; FCPX;; HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, SWISS TYPE;; HPFH, SWISS TYPE
Number Sign 305450 OPITZ-KAVEGGIA SYNDROME; OKS FG SYNDROME 1; FGS1;; FG SYNDROME; FGS;; MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM;; KELLER SYNDROME
NULL 305550 FINGERPRINT BODY MYOPATHY
Number Sign 305600 FOCAL DERMAL HYPOPLASIA; FDH FODH; DHOF;; GOLTZ SYNDROME;; GOLTZ-GORLIN SYNDROME
Number Sign 305620 FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1 FMD
Caret 305645 MOVED TO 136760
Caret 305650 REMOVED FROM DATABASE
Asterisk 305660 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-3; GABRA3 GABA-A RECEPTOR, ALPHA-3 POLYPEPTIDE
Asterisk 305670 GASTRIN-RELEASING PEPTIDE RECEPTOR; GRPR
NULL 305690 GENITOURINARY TRACT ANOMALIES
NULL 305700 SPERMATOGENIC FAILURE, X-LINKED, 1; SPGFX1 SERTOLI CELL-ONLY SYNDROME;; GERMINAL CELL APLASIA;; DEL CASTILLO SYNDROME
NULL 305800 MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED MESANGIOCAPILLARY GLOMERULONEPHRITIS, X-LINKED
Asterisk 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
Caret 305910 MOVED TO 138130
Asterisk 305915 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3 GLUTAMATE RECEPTOR 3; GLUR3;; GLURC
NULL 305920 GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE ADP-RIBOSE PROTEIN HYDROLASE DEFICIENCY
Caret 305980 MOVED TO 138140
Asterisk 305990 GLYCINE RECEPTOR, ALPHA-2 SUBUNIT; GLRA2
Number Sign 306000 GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 LIVER GLYCOGENOSIS, X-LINKED, TYPE I; XLG1;; GLYCOGEN STORAGE DISEASE VIII, FORMERLY;; GSD VIII, FORMERLY; GSD8, FORMERLY GLYCOGEN STORAGE DISEASE IXa2, INCLUDED; GSD9A2, INCLUDED;; GSD IXa2, INCLUDED;; LIVER GLYCOGENOSIS, X-LINKED, TYPE II, INCLUDED; XLG2, INCLUDED
Caret 306100 MOVED TO 400044
Caret 306190 MOVED TO 300200
Asterisk 306250 COLONY-STIMULATING FACTOR 2 RECEPTOR, ALPHA; CSF2RA GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, LOW AFFINITY, ALPHA SUBUNIT; GMCSFR
NULL 306300 GRANULOMAS, CONGENITAL CEREBRAL
Number Sign 306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX CGD;; CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED;; CHRONIC GRANULOMATOUS DISEASE, X-LINKED CYTOCHROME b-POSITIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, INCLUDED;; GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT, INCLUDED;; CHRONIC GRANULOMATOUS DISEASE, ATYPICAL, INCLUDED
Asterisk 306480 HALOACID DEHALOGENASE-LIKE HYDROLASE DOMAIN-CONTAINING 1A; HDHD1A DXF68S1E;; GS1 GENE
Caret 306500 MOVED TO 312300
Caret 306600 REMOVED FROM DATABASE
Number Sign 306700 HEMOPHILIA A; HEMA HEMOPHILIA, CLASSIC
NULL 306800 HEMOPHILIA A WITH VASCULAR ABNORMALITY
Number Sign 306900 HEMOPHILIA B; HEMB CHRISTMAS DISEASE;; FACTOR IX DEFICIENCY;; F9 DEFICIENCY;; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY HEMOPHILIA B(M), INCLUDED;; HEMOPHILIA B LEYDEN, INCLUDED
NULL 306930 HEMOPOIETIC PROLIFERATION
NULL 306950 HERNIA, ANTERIOR DIAPHRAGMATIC
Number Sign 306955 HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 DEXTROCARDIA WITH OTHER CARDIAC MALFORMATIONS;; LATERALITY, X-LINKED;; SITUS INVERSUS, COMPLEX CARDIAC DEFECTS, AND SPLENIC DEFECTS, X-LINKED CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED, INCLUDED; CHTD1, INCLUDED
Percent 306960 HHHH SYNDROME HEREDITARY HEMIHYPOTROPHY HEMIPARESIS HEMIATHETOSIS SYNDROME
Caret 306970 MOVED TO 426000
NULL 306980 HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY
NULL 306990 HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE
NULL 306995 HOMOSEXUALITY 1; HMS1 SEXUAL ORIENTATION, MALE
Number Sign 307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS HSAS1;; HYDROCEPHALUS, X-LINKED; HYCX;; AQUEDUCTAL STENOSIS, X-LINKED; XLAS HYDROCEPHALUS, X-LINKED, WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, INCLUDED
NULL 307010 HYDROCEPHALUS WITH CEREBELLAR AGENESIS
Number Sign 307030 GLYCEROL KINASE DEFICIENCY; GKD GK DEFICIENCY;; GK1 DEFICIENCY;; HYPERGLYCEROLEMIA
Number Sign 307150 HYPERTRICHOSIS, CONGENITAL GENERALIZED; HTC2 CHROMOSOME Xq27.1 INTERCHROMOSOMAL INSERTION SYNDROME;; CGH;; HCG
Number Sign 307200 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3 IGHD III;; GROWTH HORMONE DEFICIENCY WITH HYPOGAMMAGLOBULINEMIA;; HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED;; AGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED;; FLEISHER SYNDROME
Caret 307300 MOVED TO 312300
NULL 307500 HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES
Caret 307600 MOVED TO 602014
Percent 307700 HYPOPARATHYROIDISM, X-LINKED; HYPX PARATHYROID GLANDS, AGENESIS OF
Number Sign 307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR HYPOPHOSPHATEMIA, X-LINKED; XLH;; HYP;; VITAMIN D-RESISTANT RICKETS, X-LINKED;; HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; HPDR
Caret 307810 MOVED TO 307800 AND 300550
NULL 307830 HYPOURICEMIA, FAMILIAL RENAL, DUE TO TUBULAR HYPERSECRETION
Asterisk 308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1 HPRT;; HGPRT
Number Sign 308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS CHILD SYNDROME;; ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS
Number Sign 308100 ICHTHYOSIS, X-LINKED; XLI STEROID SULFATASE DEFICIENCY;; STS DEFICIENCY;; PLACENTAL STEROID SULFATASE DEFICIENCY;; STEROID SULFATASE DEFICIENCY DISEASE; SSDD ICHTHYOSIS, X-LINKED, COMPLICATED, INCLUDED
NULL 308200 ICHTHYOSIS AND MALE HYPOGONADISM RUD SYNDROME, INCLUDED;; RUDS, INCLUDED
Number Sign 308205 IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUT BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA
Caret 308210 REMOVED FROM DATABASE
NULL 308220 IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN GPL115 DEFICIENCY
Number Sign 308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1 HYPER-IgM IMMUNODEFICIENCY, X-LINKED; XHIM;; HYPER-IgM SYNDROME 1;; HYPER-IgM SYNDROME; HIGM; IHIS;; IMMUNODEFICIENCY 3; IMD3
Number Sign 308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1 XLP;; LYMPHOPROLIFERATIVE DISEASE, X-LINKED; XLPD;; LYP;; DUNCAN DISEASE;; EPSTEIN-BARR VIRUS INFECTION, FAMILIAL FATAL;; EBV INFECTION, SEVERE, SUSCEPTIBILITY TO; EBVS;; INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO;; IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE;; IMMUNODEFICIENCY 5; IMD5;; PURTILO SYNDROME
Percent 308250 IMMUNOGLOBULIN M, LEVEL OF
Percent 308280 IMPACTED TEETH, MULTIPLE
NULL 308290 IMPRINTING GENE RELATED TO RETINOBLASTOMA
Number Sign 308300 INCONTINENTIA PIGMENTI; IP INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE;; BLOCH-SULZBERGER SYNDROME;; INCONTINENTIA PIGMENTI, TYPE II, FORMERLY; IP2, FORMERLY
Caret 308310 MOVED TO 308300
Number Sign 308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1 INFANTILE SPASM SYNDROME, X-LINKED 1; ISSX1;; WEST SYNDROME, X-LINKED;; OHTAHARA SYNDROME, X-LINKED;; INFANTILE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY;; XMESID
Caret 308370 MOVED TO 312300
Asterisk 308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG INTERLEUKIN RECEPTOR, COMMON GAMMA CHAIN;; INTERLEUKIN RECEPTOR, GAMMA-C;; CD132 ANTIGEN; CD132
Asterisk 308385 INTERLEUKIN 3 RECEPTOR, ALPHA; IL3RA CD123 ANTIGEN; CD123
Caret 308400 REMOVED FROM DATABASE
NULL 308500 IRIS HYPOPLASIA WITH GLAUCOMA; IHG
NULL 308600 JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY
Number Sign 308700 HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 KALLMANN SYNDROME 1; KAL1;; KMS;; HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA; HHA;; DYSPLASIA OLFACTOGENITALIS OF DE MORSIER;; ANOSMIC HYPOGONADISM
NULL 308750 KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA SPASTIC PARAPLEGIA-KALLMANN SYNDROME
Number Sign 308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED; KFSDX KERATOSIS FOLLICULARIS SPINULOSA DECALVANS CUM OPHIASI
NULL 308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY
Asterisk 308840 L1 CELL ADHESION MOLECULE; L1CAM MIC5;; NEURAL CELL ADHESION MOLECULE L1; CAML1
NULL 308850 LARYNGEAL ABDUCTOR PARALYSIS VOCAL CORD DYSFUNCTION, FAMILIAL;; PLOTT SYNDROME
Percent 308905 LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO LOAS;; LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF;; LHON, MODIFIER OF
Caret 308930 MOVED TO 312170
Number Sign 308940 LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME; DL-ATS LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY;; ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS; ATS-DL;; CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME
NULL 308950 LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT
NULL 308960 LEUKEMIA, ACUTE, ?X-LINKED
Caret 308980 MOVED TO 151660
Number Sign 308990 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
Number Sign 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL OCRL1;; LOWE SYNDROME;; PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY
NULL 309050 LUTHERAN SUPPRESSOR, X-LINKED; XS LUXS
Asterisk 309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN B; LAMPB;; LYSOSOMAL MEMBRANE GLYCOPROTEIN, 110-KD; LGP110;; CD107B
Percent 309100 MACULAR DYSTROPHY, X-LINKED
Number Sign 309120 SPERMATOGENIC FAILURE, X-LINKED, 2; SPGFX2 MALE INFERTILITY FROM DEFECT IN MEIOSIS
Caret 309150 MOVED TO 614279
Percent 309200 MAJOR AFFECTIVE DISORDER 2; MAFD2 MANIC-DEPRESSIVE ILLNESS; MDI;; MANIC-DEPRESSIVE PSYCHOSIS, X-LINKED; MDX;; BIPOLAR AFFECTIVE DISORDER; BPAD
Number Sign 309300 MEGALOCORNEA; MGC1 MGCN
Number Sign 309350 MELNICK-NEEDLES SYNDROME; MNS MELNICK-NEEDLES OSTEODYSPLASTY;; OSTEODYSPLASTY OF MELNICK AND NEEDLES
Number Sign 309400 MENKES DISEASE MK; MNK;; MENKES SYNDROME;; KINKY HAIR DISEASE;; STEELY HAIR DISEASE;; COPPER TRANSPORT DISEASE
Caret 309470 MOVED TO 309500
NULL 309480 MENTAL RETARDATION AND PSORIASIS
Caret 309490 MOVED TO 309580
Number Sign 309500 RENPENNING SYNDROME 1; RENS1 MENTAL RETARDATION, X-LINKED, RENPENNING TYPE;; SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME; SHS;; GOLABI-ITO-HALL SYNDROME;; MENTAL RETARDATION, X-LINKED, WITH SPASTIC DIPLEGIA;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 3; MRXS3;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 8; MRXS8;; MENTAL RETARDATION, X-LINKED 55; MRX55
Number Sign 309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS PARTINGTON SYNDROME;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 1; MRXS1;; MENTAL RETARDATION, X-LINKED, WITH DYSTONIC MOVEMENTS, ATAXIA, AND SEIZURES;; MENTAL RETARDATION, X-LINKED 36; MRX36
Number Sign 309520 LUJAN-FRYNS SYNDROME MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS
Number Sign 309530 MENTAL RETARDATION, X-LINKED 1; MRX1 MRX;; MENTAL RETARDATION, X-LINKED 18; MRX18;; MENTAL RETARDATION, X-LINKED 78; MRX78
Caret 309540 MOVED TO 309548
Number Sign 309541 METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE MENTAL RETARDATION, X-LINKED 3; MRX3
Percent 309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12; MRXS12
Number Sign 309548 MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE FRAXE MENTAL RETARDATION SYNDROME
Number Sign 309549 MENTAL RETARDATION, X-LINKED 9; MRX9 MENTAL RETARDATION, X-LINKED 44; MRX44
Asterisk 309550 FMR1 GENE; FMR1 FRAGILE X MENTAL RETARDATION PROTEIN; FMRP FRAGILE SITE, FOLIC ACID TYPE, RARE, fraXq27.3, INCLUDED; FRAXA, INCLUDED
Percent 309555 MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES GUSTAVSON SYNDROME; GUST
Percent 309560 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS
Number Sign 309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 SMITH-FINEMAN-MYERS SYNDROME 1; SFM1;; SFMS;; XLMR-HYPOTONIC FACIES SYNDROME;; CARPENTER-WAZIRI SYNDROME;; CHUDLEY-LOWRY SYNDROME;; JUBERG-MARSIDI SYNDROME; JMS;; HOLMES-GANG SYNDROME;; MENTAL RETARDATION, X-LINKED, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM
Number Sign 309583 MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR SNYDER-ROBINSON MENTAL RETARDATION SYNDROME; SRS
Number Sign 309585 WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS MENTAL RETARDATION, X-LINKED, SYNDROMIC 6; MRXS6;; MENTAL RETARDATION, X-LINKED, WITH GYNECOMASTIA AND OBESITY
Caret 309590 MOVED TO 309580
Caret 309600 MOVED TO 300523
Caret 309605 MOVED TO 314580
Percent 309610 PRIETO X-LINKED MENTAL RETARDATION SYNDROME; PRS MENTAL RETARDATION, X-LINKED, SYNDROMIC 2; MRXS2;; MENTAL RETARDATION, X-LINKED, WITH DYSMORPHISM AND CEREBRAL ATROPHY
Percent 309620 MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD CHRISTIAN SYNDROME; CHRS
Number Sign 309630 METACARPAL 4-5 FUSION; MF4
NULL 309640 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA
Caret 309645 MOVED TO 602111
Caret 309660 MOVED TO 300257
Caret 309700 MOVED TO 310600
Number Sign 309800 MICROPHTHALMIA, SYNDROMIC 1; MCOPS1 LENZ MICROPHTHALMIA SYNDROME;; LENZ DYSPLASIA;; MAA, FORMERLY
Number Sign 309801 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7;; MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS;; MICROPHTHALMIA, DERMAL APLASIA, AND SCLEROCORNEA;; MIDAS SYNDROME
NULL 309840 MODIFIER, X-LINKED, FOR NEUROFUNCTIONAL DEFECTS TOURETTE SYNDROME, MODIFIER OF
Asterisk 309845 MOESIN; MSN MEMBRANE-ORGANIZING EXTENSION SPIKE PROTEIN
Asterisk 309850 MONOAMINE OXIDASE A; MAOA AMINE OXIDASE (FLAVIN-CONTAINING) A
Asterisk 309860 MONOAMINE OXIDASE B; MAOB MAO, PLATELET;; MAO, BRAIN;; AMINE OXIDASE (FLAVIN-CONTAINING) B
Number Sign 309900 MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 MPS II;; HUNTER SYNDROME;; IDURONATE 2-SULFATASE DEFICIENCY;; IDS DEFICIENCY;; SULFOIDURONATE SULFATASE DEFICIENCY;; SIDS DEFICIENCY
NULL 309930 MUSCULAR DYSTROPHY, CARDIAC TYPE
NULL 309950 MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE
NULL 310000 MUSCULAR DYSTROPHY, MABRY TYPE
NULL 310095 MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL MUSCULAR DYSTROPHY, PROGRESSIVE, INVOLVING SHOULDER GIRDLE AND BACK
Number Sign 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD DUCHENNE MUSCULAR DYSTROPHY;; MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE
Number Sign 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 EMD1;; MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURES;; SCAPULOPERONEAL SYNDROME, X-LINKED, FORMERLY;; HUMEROPERONEAL NEUROMUSCULAR DISEASE, FORMERLY
Caret 310305 MOVED TO 601415
Asterisk 310310 MYCL-RELATED PROCESSED GENE; MYCL2
NULL 310350 MYELOLYMPHATIC INSUFFICIENCY PELGER-LIKE ANOMALY WITH LEUKOPENIA AND SUSCEPTIBILITY TO INFECTIONS
NULL 310370 MYOCLONIC EPILEPSY, PROGRESSIVE
Number Sign 310400 MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX MYOTUBULAR MYOPATHY, X-LINKED; MTMX; XLMTM;; MYOTUBULAR MYOPATHY 1; MTM1
Number Sign 310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX XMEA
Caret 310450 MOVED TO 159000
Percent 310460 MYOPIA 1, X-LINKED; MYP1
NULL 310465 N SYNDROME; NSX
Number Sign 310468 NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN NEPHROLITHIASIS, X-LINKED RECESSIVE, TYPE 1;; UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1;; NEPHROLITHIASIS 1; NPHL1
NULL 310470 NEUROPATHY, HEREDITARY SENSORY, X-LINKED
Number Sign 310490 COWCHOCK SYNDROME; COWCK CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4; CMTX4;; CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNESS AND MENTAL RETARDATION;; NEUROPATHY, AXONAL MOTOR-SENSORY, WITH DEAFNESS AND MENTAL RETARDATION; NAMSD;; NADMR
Number Sign 310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A CSNB, COMPLETE, X-LINKED;; NIGHT BLINDNESS, CONGENITAL STATIONARY, WITH MYOPIA;; HEMERALOPIA-MYOPIA;; MYOPIA-NIGHT BLINDNESS; NBM1 NYCTALOPIA, INCLUDED
Number Sign 310600 NORRIE DISEASE; ND ATROPHIA BULBORUM HEREDITARIA;; EPISKOPI BLINDNESS
NULL 310650 NUCLEAR RIBONUCLEIC ACID; nRNA
Number Sign 310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1 NYSTAGMUS, CONGENITAL MOTOR, 1;; NYSTAGMUS 1, INFANTILE, X-LINKED;; NYSTAGMUS, INFANTILE IDIOPATHIC, FORMERLY; IIN, FORMERLY NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED; XIPAN, INCLUDED;; XLPAN, INCLUDED
NULL 310800 NYSTAGMUS, MYOCLONIC
NULL 310900 OCCIPITAL HAIR, WHITE LOCK OF
NULL 310980 OMPHALOCELE, X-LINKED
Caret 310990 MOVED TO 190020
Percent 311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA; OPEM MYOPIA-OPHTHALMOPLEGIA SYNDROME
Asterisk 311010 V-RAF MURINE SARCOMA 3611 VIRAL ONCOGENE HOMOLOG 1; ARAF1 ONCOGENE ARAF1;; RAFA1;; ONCOGENE PKS2
Caret 311020 MOVED TO 311010
Asterisk 311030 MCF.2 CELL LINE-DERIVED TRANSFORMING SEQUENCE; MCF2 ONCOGENE MCF2;; ONCOGENE DBL; DBL
Asterisk 311040 ELK1, MEMBER OF ETS ONCOGENE FAMILY; ELK1 ONCOGENE ELK1 ELK2, MEMBER OF ETS ONCOGENE FAMILY, PSEUDOGENE 1, INCLUDED
Percent 311050 OPTIC ATROPHY 2; OPA2 OPTIC ATROPHY, X-LINKED;; OPTIC ATROPHY, NON-LEBER TYPE, WITH EARLY ONSET
Number Sign 311070 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 OPTIC ATROPHY, POLYNEUROPATHY, AND DEAFNESS;; ROSENBERG-CHUTORIAN SYNDROME;; CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 5
NULL 311100 OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME
Caret 311150 MOVED TO 304700
Number Sign 311200 OROFACIODIGITAL SYNDROME I; OFD1 ORAL-FACIAL-DIGITAL SYNDROME, TYPE I;; OFDS I;; PAPILLON-LEAGE AND PSAUME SYNDROME
Asterisk 311240 TBC1 DOMAIN FAMILY, MEMBER 25; TBC1D25 ORNITHINE AMINOTRANSFERASE-LIKE 1; OATL1
Caret 311241 MOVED TO 258870
Number Sign 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY;; OTC DEFICIENCY VALPROATE SENSITIVITY, INCLUDED
Caret 311280 MOVED TO 300373
Number Sign 311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 OPD I SYNDROME;; OPD SYNDROME 1 OTOPALATODIGITAL SPECTRUM DISORDER, INCLUDED;; FRONTOOTOPALATODIGITAL OSTEODYSPLASIA, INCLUDED
NULL 311350 OUABAIN RESISTANCE; OUBR
Number Sign 311360 PREMATURE OVARIAN FAILURE 1; POF1 PREMATURE OVARIAN FAILURE, X-LINKED; POFX;; HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED;; OVARIAN FAILURE, PREMATURE; POF;; PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED;; FRAGILE X PREMATURE OVARIAN FAILURE
NULL 311400 PAINE SYNDROME MICROCEPHALY WITH SPASTIC DIPLEGIA SEEMANOVA SYNDROME I, INCLUDED
NULL 311450 PALLISTER W SYNDROME W SYNDROME
Number Sign 311510 WAISMAN SYNDROME; WSMN PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION;; BASAL GANGLION DISORDER WITH MENTAL RETARDATION; BGMR;; WSN
Asterisk 311550 CYCLIN-DEPENDENT KINASE 16; CDK16 PCTAIRE PROTEIN KINASE 1; PCTK1;; PCTAIRE1
Caret 311601 MOVED TO 312080
Caret 311700 REMOVED FROM DATABASE
Caret 311750 MOVED TO 170650
Asterisk 311770 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS A PROTEIN; PIGA PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS A PROTEIN, PSEUDOGENE 1, INCLUDED; PIGAP1, INCLUDED; PIGAP, INCLUDED
Asterisk 311790 6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 1; PFKFB1 PFKFB, LIVER;; PFRX
Asterisk 311800 PHOSPHOGLYCERATE KINASE 1; PGK1 3-PHOSPHOGLYCEROKINASE;; PGKA PHOSPHOGLYCERATE KINASE 1 PSEUDOGENE 1, INCLUDED; PGK1P1, INCLUDED;; PHOSPHOGLYCERATE KINASE 1 PSEUDOGENE 2, INCLUDED; PGK1P2, INCLUDED
Caret 311810 MOVED TO 311800
Asterisk 311850 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1
Asterisk 311860 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE II; PRPS2
Asterisk 311870 PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1
NULL 311895 PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES
Number Sign 311900 TARP SYNDROME; TARPS TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCE OF LEFT SUPERIOR VENA CAVA;; PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT
Number Sign 312000 PANHYPOPITUITARISM, X-LINKED; PHPX PITUITARY DWARFISM IV, FORMERLY
Caret 312030 REMOVED FROM DATABASE
Asterisk 312040 POLYMERASE, DNA, ALPHA-1; POLA1 POLA DNA POLYMERASE-ALPHA, p180 SUBUNIT
Number Sign 312060 PROPERDIN DEFICIENCY, X-LINKED; CFPD PROPERDIN P FACTOR DEFICIENCY; PFD;; COMPLEMENT FACTOR PROPERDIN DEFICIENCY;; PROPERDIN DEFICIENCY, TYPE I PROPERDIN DEFICIENCY, TYPE II, INCLUDED;; PROPERDIN DEFICIENCY, TYPE III, INCLUDED
Asterisk 312070 UBIQUITIN-LIKE 4A; UBL4A UBL4;; GDX;; DXS254E
Number Sign 312080 PELIZAEUS-MERZBACHER DISEASE; PMD LEUKODYSTROPHY, HYPOMYELINATING, 1; HLD1
Asterisk 312090 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY) MEMBER 3; SLC10A3 PROTEIN P3
Asterisk 312095 A-KINASE ANCHOR PROTEIN 17A; AKAP17A SPLICING FACTOR, ARGININE/SERINE-RICH, 17A; SFRS17A;; PSEUDOAUTOSOMAL GENE XE7;; DXYS155E
Caret 312100 MOVED TO 312300
Percent 312150 MULTIPLE PTERYGIUM SYNDROME, X-LINKED PTERYGIUM SYNDROME, MULTIPLE, X-LINKED
Number Sign 312170 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY;; PYRUVATE DECARBOXYLASE DEFICIENCY;; ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM;; PDH DEFICIENCY;; ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY;; ATAXIA WITH LACTIC ACIDOSIS I LACTIC ACIDEMIA, THIAMINE-RESPONSIVE, INCLUDED
Asterisk 312173 RIBOSOMAL PROTEIN L10; RPL10 QM GENE
Asterisk 312180 UBIQUITIN-CONJUGATING ENZYME E2A; UBE2A RAD6, YEAST, HOMOLOG OF, TYPE A; RAD6A;; HHR6A
NULL 312190 RADIAL APLASIA, X-LINKED RADIAL APLASIA AND ANOGENITAL ANOMALIES
NULL 312200 RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER
NULL 312210 RADIATION SENSITIVITY OF NATURAL KILLER ACTIVITY X-RAY NK SENSITIVITY; XNKS
Number Sign 312300 ANDROGEN INSENSITIVITY, PARTIAL; PAIS REIFENSTEIN SYNDROME;; ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER;; FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1
Caret 312390 MOVED TO 314310
Caret 312400 MOVED TO 604278
Asterisk 312420 RENIN-BINDING PROTEIN; RENBP
Caret 312450 MOVED TO 252010
Percent 312500 RETICULOENDOTHELIOSIS, X-LINKED
Caret 312530 REMOVED FROM DATABASE
NULL 312550 RETINAL DYSPLASIA, PRIMARY; PRD
Number Sign 312600 RETINITIS PIGMENTOSA 2; RP2
Asterisk 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR
Percent 312612 RETINITIS PIGMENTOSA 6; RP6 RETINITIS PIGMENTOSA, X-LINKED RECESSIVE, 6
Number Sign 312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1 XLRS1;; RS
Number Sign 312750 RETT SYNDROME; RTT RTS;; AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE RETT SYNDROME, ZAPPELLA VARIANT, INCLUDED;; RETT SYNDROME, PRESERVED SPEECH VARIANT, INCLUDED;; RETT SYNDROME, ATYPICAL, INCLUDED
Asterisk 312760 RIBOSOMAL PROTEIN S4, X-LINKED; RPS4X SINGLE-COPY ABUNDANT mRNA; SCAR;; CELL CYCLE GENE 2; CCG2
NULL 312780 RUSSELL-SILVER SYNDROME, X-LINKED RUSSELL-SILVER-LIKE SYNDROME WITH SKIN PIGMENTATION;; PARTINGTON SYNDROME
Caret 312800 MOVED TO 600145
Asterisk 312820 SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1 SARCOMA, SYNOVIAL, X-CHROMOSOME-RELATED 1;; SSRC SSX1-SYT FUSION GENE, INCLUDED
NULL 312830 SCARF SYNDROME SKELETAL ABNORMALITIES, CUTIS LAXA, CRANIOSTENOSIS, AMBIGUOUS GENITALIA, RETARDATION, AND FACIAL ABNORMALITIES
NULL 312840 SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME CHOREOATHETOSIS WITH MENTAL RETARDATION, X-LINKED
Caret 312860 MOVED TO 272440
Asterisk 312861 5-HYDROXYTRYPTAMINE RECEPTOR 2C; HTR2C SEROTONIN 5-HT-2C RECEPTOR;; SEROTONIN 5-HT-1C RECEPTOR, FORMERLY; HTR1C, FORMERLY
Number Sign 312863 COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX XCID;; IMMUNODEFICIENCY 6; IMD6
Asterisk 312865 SHORT STATURE HOMEOBOX; SHOX PSEUDOAUTOSOMAL HOMEOBOX-CONTAINING OSTEOGENIC GENE; PHOG
Number Sign 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 SGBS;; BULLDOG SYNDROME;; DYSPLASIA GIGANTISM SYNDROME, X-LINKED; DGSX;; GOLABI-ROSEN SYNDROME;; SIMPSON DYSMORPHIA SYNDROME; SDYS
Caret 312890 MOVED TO 312920
Caret 312900 MOVED TO 303350
NULL 312910 SPASTIC PARAPARESIS AND DEAFNESS
Number Sign 312920 SPASTIC PARAPLEGIA 2, X-LINKED; SPG2 SPPX2
Percent 313000 SPATIAL VISUALIZATION, APTITUDE FOR VISUOSPATIAL/PERCEPTUAL ABILITIES; VSPA TURNER SYNDROME-ASSOCIATED NEUROCOGNITIVE PHENOTYPE, INCLUDED
Asterisk 313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1; SAT1 SSAT;; SSAT1
Caret 313100 MOVED TO 605041
Number Sign 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 SPINAL AND BULBAR MUSCULAR ATROPHY; SBMA;; KENNEDY DISEASE; KD;; KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY;; BULBOSPINAL MUSCULAR ATROPHY, X-LINKED;; BULBOSPINAL NEURONOPATHY, X-LINKED RECESSIVE; XBSN
Percent 313350 SPLIT-HAND/FOOT MALFORMATION 2; SHFM2 SPLIT-HAND/SPLIT-FOOT ANOMALY, X-LINKED;; SPLIT-HAND/FOOT DEFORMITY 2; SHFD2;; SHSF2
Number Sign 313400 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT SED TARDA, X-LINKED;; SPONDYLOEPIPHYSEAL DYSPLASIA, LATE
Percent 313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED SPONDYLOMETAPHYSEAL DYSPLASIA, RICHMOND TYPE
Asterisk 313430 SRY-BOX 3; SOX3 SRY-RELATED HMG-BOX GENE 3
Asterisk 313440 SYNAPSIN I; SYN1 BRAIN PROTEIN 4.1
Caret 313450 REMOVED FROM DATABASE
Caret 313460 REMOVED FROM DATABASE
Asterisk 313470 CD99 ANTIGEN, X CHROMOSOME; CD99 MIC2 SURFACE ANTIGEN, X CHROMOSOME; MIC2X;; CELL SURFACE ANTIGEN 12E7, X CHROMOSOME;; E2 ANTIGEN, X CHROMOSOME;; CELL SURFACE ANTIGEN HBA-71, X CHROMOSOME; HBA71;; CELL SURFACE ANTIGEN O13, X CHROMOSOME;; MSK5X
Asterisk 313475 SYNAPTOPHYSIN; SYP
NULL 313480 TaqI POLYMORPHISM; TAQ1
NULL 313490 TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS
Number Sign 313500 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1 HYPODONTIA/OLIGODONTIA, X-LINKED, 1
Caret 313550 REMOVED FROM DATABASE
Asterisk 313650 TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 250-KD; TAF1 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1;; TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2A; TAF2A;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 250-KD; TAFII250;; CELL CYCLE, G1 PHASE DEFECT; CCG1;; CELL CYCLE GENE 1;; CELL CYCLE BLOCK, G1-TO-S; CCGS;; BA2R TRANSCRIPTION FACTOR IID, INCLUDED; TFIID, INCLUDED; TF2D, INCLUDED;; TATA-BINDING PROTEIN-CONTAINING COMPLEX, INCLUDED
Caret 313680 MOVED TO 187395
Asterisk 313700 ANDROGEN RECEPTOR; AR DIHYDROTESTOSTERONE RECEPTOR; DHTR;; NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 4; NR3C4
Percent 313850 THORACOABDOMINAL SYNDROME; THAS TAS MIDLINE DEFECTS, X-LINKED, INCLUDED;; PENTALOGY OF CANTRELL, INCLUDED
Number Sign 313900 THROMBOCYTOPENIA 1; THC1 THC;; THROMBOCYTOPENIA, X-LINKED; XLT;; THROMBOCYTOPENIA, X-LINKED, 1 THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, INCLUDED
NULL 314000 THROMBOCYTOPENIA WITH ELEVATED SERUM IgA AND RENAL DISEASE
Number Sign 314050 THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS
NULL 314100 THUMBS, CONGENITAL CLASPED ADDUCTED THUMBS SYNDROME
Asterisk 314200 THYROXINE-BINDING GLOBULIN OF SERUM; TBG SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 7; SERPINA7;; T4-BINDING GLOBULIN;; TBG, SERUM
NULL 314240 TOOTH SIZE
Number Sign 314250 DYSTONIA 3, TORSION, X-LINKED; DYT3 DYSTONIA-PARKINSONISM, X-LINKED; XDP;; TORSION DYSTONIA-PARKINSONISM, FILIPINO TYPE
Percent 314300 TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR TKC;; TKCR SYNDROME;; GOEMINNE SYNDROME
Asterisk 314310 TRANSCRIPTION FACTOR FOR IMMUNOGLOBULIN HEAVY-CHAIN ENHANCER 3; TFE3 TFE3/ASPSCR1 FUSION GENE, INCLUDED;; TFE3/PRCC FUSION GENE, INCLUDED;; TFE3/SFPQ FUSION GENE, INCLUDED;; TFE3/CLTC FUSION GENE, INCLUDED
NULL 314320 TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY
Caret 314350 REMOVED FROM DATABASE
NULL 314360 ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET
Asterisk 314370 UBIQUITIN-LIKE MODIFIER-ACTIVATING ENZYME 1; UBA1 UBIQUITIN-ACTIVATING ENZYME 1; UBE1;; BN75 TEMPERATURE SENSITIVITY COMPLEMENTING; GXP1 TEMPERATURE-SENSITIVE MUTATION, MOUSE, COMPLEMENTATION OF, INCLUDED;; tsA1S9, INCLUDED;; A1S9T, INCLUDED;; A1S9, INCLUDED
Asterisk 314375 SOLUTE CARRIER FAMILY 35 (UDP-GALACTOSE TRANSPORTER), MEMBER 2; SLC35A2 UDP-GALACTOSE TRANSLOCATOR; UGALT UDP-GALACTOSE TRANSPORTER, ISOFORM 1, INCLUDED; UGT1, INCLUDED;; UDP-GALACTOSE TRANSPORTER, ISOFORM 2, INCLUDED; UGT2, INCLUDED
Percent 314380 UNIQUE GREEN PHENOMENON
Number Sign 314390 VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX VACTERL-H, X-LINKED
Number Sign 314400 CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 VALVULAR HEART DISEASE, CONGENITAL;; MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED; XMVD
Percent 314500 VAN DEN BOSCH SYNDROME
NULL 314550 VESICOURETERAL REFLUX, X-LINKED; VURX
Caret 314555 MOVED TO 604492
NULL 314560 VON WILLEBRAND DISEASE, X-LINKED FORM
NULL 314570 WIDOW'S PEAK SYNDROME WIDOW'S PEAK, PTOSIS, AND SKELETAL ANOMALIES
Number Sign 314580 WIEACKER-WOLFF SYNDROME; WRWF WIEACKER SYNDROME;; CONTRACTURES OF FEET, MUSCLE ATROPHY, AND OCULOMOTOR APRAXIA;; APRAXIA, OCULOMOTOR, WITH CONGENITAL CONTRACTURES AND MUSCLE ATROPHY;; MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME; MCS;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 4; MRXS4;; MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES
Percent 314600 WILDERVANCK SYNDROME CERVICOOCULOACOUSTIC SYNDROME
Asterisk 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST X INACTIVATION CENTER, INCLUDED; XIC, INCLUDED
Asterisk 314690 LYSINE-SPECIFIC DEMETHYLASE 5C; KDM5C JUMONJI, AT-RICH INTERACTIVE DOMAIN 1C; JARID1C;; SELECTED cDNA ON X, MOUSE, HOMOLOG OF; SMCX;; XE169;; DXS1272E
NULL 314700 BLOOD GROUP, XG SYSTEM; XG XG BLOOD GROUP SYSTEM
Percent 314705 XG REGULATOR; XGR XG AND MIC2 EXPRESSION ON ERYTHROCYTES
NULL 314800 XH ANTIGEN
Asterisk 314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK KELL BLOOD GROUP PRECURSOR;; XK LOCUS;; PRECURSOR SUBSTANCE, KELL BLOOD GROUP; KX;; KELL COMPLEX, 37-KD COMPONENT
Percent 314900 XM SYSTEM
Caret 314920 REMOVED FROM DATABASE
Caret 314940 REMOVED FROM DATABASE
Caret 314960 REMOVED FROM DATABASE
Asterisk 314980 ZINC FINGER PROTEIN, X-LINKED; ZFX
Asterisk 314990 ZINC FINGER PROTEIN 711; ZNF711 ZINC FINGER PROTEIN 6; ZNF6;; CMPX1
Asterisk 314993 ZINC FINGER PROTEIN 182; ZNF182 ZINC FINGER PROTEIN 21; ZNF21
Asterisk 314995 ZINC FINGER PROTEIN 41; ZNF41
Asterisk 314997 ZINC FINGER PROTEIN 75D; ZNF75D ZINC FINGER PROTEIN 75; ZNF75
Asterisk 314998 ZINC FINGER PROTEIN 81; ZNF81
Caret 315000 MOVED TO 302200
Caret 400000 REMOVED FROM DATABASE
Caret 400001 MOVED TO 426000
Caret 400002 MOVED TO 314700
Asterisk 400003 DELETED IN AZOOSPERMIA; DAZ DAZ1 DELETED IN AZOOSPERMIA 4, INCLUDED; DAZ4, INCLUDED
Percent 400004 RETINITIS PIGMENTOSA, Y-LINKED; RPY
Asterisk 400005 UBIQUITIN-SPECIFIC PROTEASE 9, Y CHROMOSOME; USP9Y DROSOPHILA FAT FACETS-RELATED, Y-LINKED; DFFRY
Asterisk 400006 RNA-BINDING MOTIF PROTEIN, Y CHROMOSOME, FAMILY 1, MEMBER A1; RBMY1A1 RBMY;; RNA-BINDING MOTIF PROTEIN 1; RBM1;; RNA-BINDING MOTIF PROTEIN 2; RBM2;; Y CHROMOSOME RNA RECOGNITION MOTIF 1; YRRM1;; Y CHROMOSOME RNA RECOGNITION MOTIF 2; YRRM2
Caret 400007 MOVED TO 400006
Asterisk 400008 PROTEIN KINASE, Y-LINKED; PRKY
Asterisk 400009 UBIQUITOUSLY TRANSCRIBED TETRATRICOPEPTIDE REPEAT GENE ON Y CHROMOSOME; UTY UTY1;; LYSINE-SPECIFIC DEMETHYLASE 6C; KDM6C
Asterisk 400010 DEAD/H BOX 3, Y-LINKED; DDX3Y DBY
Asterisk 400011 ACETYLSEROTONIN METHYLTRANSFERASE-LIKE, Y-LINKED ASMTLY
Asterisk 400012 VARIABLY CHARGED, Y CHROMOSOME; VCY VCY1;; BASIC PROTEIN, Y CHROMOSOME, 1; BPY1
Asterisk 400013 BASIC PROTEIN, Y CHROMOSOME, 2; BPY2 BPY2A;; VARIABLY CHARGED, Y CHROMOSOME, 2; VCY2;; VCY2A
Asterisk 400014 EUKARYOTIC TRANSLATION INITIATION FACTOR 1A, Y-LINKED; EIF1AY
Asterisk 400015 XK-RELATED PROTEIN ON Y CHROMOSOME XKRY
Asterisk 400016 CHROMODOMAIN PROTEIN, Y CHROMOSOME, 1; CDY1 CDY
Asterisk 400017 THYMOSIN, BETA-4, Y CHROMOSOME; TMSB4Y TB4Y
Asterisk 400018 CHROMODOMAIN PROTEIN, Y CHROMOSOME, 2; CDY2
Asterisk 400019 PTPBL-RELATED GENE ON Y; PRY PTPBL-RELATED GENE ON Y, 1; PRY1;; PTPN13-LIKE, Y-LINKED; PTPN13LY
Asterisk 400020 SHORT STATURE HOMEOBOX, Y-LINKED; SHOXY
Percent 400021 LYMPHOMA, HODGKIN, Y-LINKED PSEUDOAUTOSOMAL HODGKIN DISEASE, Y-LINKED PSEUDOAUTOSOMAL
Asterisk 400022 PROTOCADHERIN 11, Y-LINKED; PCDH11Y PROTOCADHERIN, Y CHROMOSOME; PCDHY;; PROTOCADHERIN 22, FORMERLY; PCDH22, FORMERLY
Asterisk 400023 CYTOKINE RECEPTOR-LIKE FACTOR 2, Y-LINKED; CRLF2Y
Caret 400024 MOVED TO 415000
Asterisk 400025 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2-LIKE, Y-LINKED; TGIF2LY TGIFLY
Asterisk 400026 DELETED IN AZOOSPERMIA 2; DAZ2
Asterisk 400027 DELETED IN AZOOSPERMIA 3; DAZ3
Asterisk 400028 NEUROLIGIN 4, Y-LINKED; NLGN4Y KIAA0951
Asterisk 400029 HEAT-SHOCK TRANSCRIPTION FACTOR, Y-LINKED; HSFY
Asterisk 400030 RIBOSOMAL PROTEIN S4, Y-LINKED, 2; RPS4Y2
Asterisk 400031 CHROMOSOME Y OPEN READING FRAME 15A; CYORF15A
Asterisk 400032 CHROMOSOME Y OPEN READING FRAME 15B; CYORF15B
Asterisk 400033 TRANSDUCIN-BETA-LIKE 1, Y-LINKED; TBL1Y
Asterisk 400034 CHONDROITIN SULFATE PROTEOGLYCAN 4 PSEUDOGENE 1, Y-LINKED; CSPG4P1Y CHONDROITIN SULFATE PROTEOGLYCAN 4-LIKE, Y-LINKED; CSPG4LY;; CSPG4-LIKE, Y-LINKED
Asterisk 400035 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 2-LIKE, Y-LINKED; GOLGA2LY GOLGA2-LIKE, Y-LINKED
Asterisk 400036 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 3; TTTY3
Asterisk 400037 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 4; TTTY4
Asterisk 400038 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 5; TTTY5
Asterisk 400039 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 6; TTTY6
Asterisk 400040 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 17; TTTY17
Asterisk 400041 PTPBL-RELATED GENE ON Y, 2; PRY2 PTPN13-LIKE GENE, Y-LINKED, 2;; PTPN13-LIKE GENE, Y-LINKED, CENTROMERIC
Number Sign 400042 SPERMATOGENIC FAILURE, Y-LINKED, 1; SPGFY1 SERTOLI CELL-ONLY SYNDROME, Y-LINKED;; SERTOLI CELL-ONLY SYNDROME, TYPE I SERTOLI CELL-ONLY SYNDROME, TYPE II, INCLUDED;; HYPOSPERMATOGENESIS, INCLUDED;; INCOMPLETE SERTOLI CELL-ONLY SYNDROME, INCLUDED
Percent 400043 DEAFNESS, Y-LINKED 1; DFNY1
Number Sign 400044 46,XY SEX REVERSAL 1; SRXY1 46,XY SEX REVERSAL, SRY-RELATED;; 46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED 46,XY TRUE HERMAPHRODITISM, SRY-RELATED, INCLUDED;; TESTIS-DETERMINING FACTOR, X-CHROMOSOMAL, FORMERLY, INCLUDED; TDFX, FORMERLY, INCLUDED;; SEX-REVERSING LOCUS ON X, FORMERLY, INCLUDED; SRVX, FORMERLY, INCLUDED
Number Sign 400045 46,XX SEX REVERSAL 1; SRXX1 46,XX SEX REVERSAL, SRY-POSITIVE;; XX MALE, SRY-POSITIVE;; 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT;; 46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE 46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE, INCLUDED;; OVOTESTICULAR DISORDER OF SEX DEVELOPMENT, INCLUDED;; OVOTESTICULAR DSD, INCLUDED
Asterisk 400046 PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC, X DOMAIN-CONTAINING PROTEIN 1, Y-LINKED PLCXD1Y;; PIPLC X DOMAIN-CONTAINING PROTEIN 1, Y-LINKED
Asterisk 402500 ACETYLSEROTONIN METHYLTRANSFERASE, Y-CHROMOSOMAL; ASMT ASMTY;; HYDROXYINDOLE-O-METHYLTRANSFERASE, Y-CHROMOSOMAL; HIOMTY
Asterisk 403000 ADENINE NUCLEOTIDE TRANSLOCATOR 3, Y-CHROMOSOMAL; ANT3Y
Asterisk 410000 AMELOGENIN, Y-CHROMOSOMAL; AMELY AMGY;; AMELOGENIN-LIKE; AMGL
Number Sign 415000 SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED;; AZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED;; OLIGOZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED;; OLIGOSPERMIA, NONOBSTRUCTIVE, Y-LINKED;; SPERMATOGENIC ARREST, Y-LINKED AZOOSPERMIA FACTOR REGIONS, INCLUDED;; AZF REGIONS, INCLUDED
Caret 424000 REMOVED FROM DATABASE
Percent 424500 GONADOBLASTOMA; GBY
Asterisk 425000 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, ALPHA SUBUNIT, Y-CHROMOSOMAL; CSF2RY
NULL 425500 HAIRY EARS, Y-LINKED HYPERTRICHOSIS PINNAE AURIS, Y-LINKED
Asterisk 426000 LYSINE-SPECIFIC DEMETHYLASE 5D; KDM5D JUMONJI, AT-RICH INTERACTIVE DOMAIN 1D; JARID1D;; SELECTED cDNA ON Y, MOUSE, HOMOLOG OF; SMCY;; HISTOCOMPATIBILITY Y ANTIGEN; HY; HYA;; H-Y ANTIGEN
Asterisk 430000 INTERLEUKIN 3 RECEPTOR, Y-CHROMOSOMAL; IL3RA IL3RY;; IL3RAY
Asterisk 450000 CD99 ANTIGEN, Y CHROMOSOME MIC2 SURFACE ANTIGEN, Y CHROMOSOME; MIC2Y;; CELL SURFACE ANTIGEN 12E7, Y CHROMOSOME;; CELL SURFACE ANTIGEN HBA-71, Y CHROMOSOME; HBA71;; E2 ANTIGEN, Y CHROMOSOME;; CELL SURFACE ANTIGEN O13, Y CHROMOSOME
Asterisk 465000 A-KINASE ANCHOR PROTEIN 17A, Y-CHROMOSOMAL; AKAP17A SPLICING FACTOR, ARGININE/SERINE RICH, 17A, Y-CHROMOSOMAL; SFRS17A;; PSEUDOAUTOSOMAL GENE XE7, Y-CHROMOSOMAL; XE7Y
Asterisk 470000 RIBOSOMAL PROTEIN S4, Y-LINKED, 1; RPS4Y1
Percent 475000 GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY STATURE; STA;; TOOTH SIZE; TS; TSY
Asterisk 480000 SEX-DETERMINING REGION Y; SRY TESTIS-DETERMINING FACTOR; TDF;; TESTIS-DETERMINING FACTOR ON Y; TDY
Asterisk 480100 TESTIS-SPECIFIC PROTEIN, Y-LINKED, 1; TSPY1 TSPY
Caret 488000 MOVED TO 475000
NULL 489000 UBIQUITIN-ACTIVATING ENZYME, Y-LINKED UBE1Y
Asterisk 489500 XG REGULATOR; XGR XG AND MIC2 EXPRESSION ON ERYTHROCYTES
Asterisk 490000 ZINC FINGER PROTEIN, Y-LINKED; ZFY
Number Sign 500000 CARDIOMYOPATHY, INFANTILE HISTIOCYTOID CARDIOMYOPATHY, INFANTILE XANTHOMATOUS;; CARDIOMYOPATHY, FOCAL LIPID;; CARDIOMYOPATHY, ONCOCYTIC;; FOAMY MYOCARDIAL TRANSFORMATION OF INFANCY
Number Sign 500001 LEBER OPTIC ATROPHY AND DYSTONIA LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME
Number Sign 500002 MITOCHONDRIAL MYOPATHY WITH DIABETES MITOCHONDRIAL MYOPATHY, LIPID TYPE
Number Sign 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL BILATERAL STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL;; INFANTILE BILATERAL STRIATAL NECROSIS, MITOCHONDRIAL
Number Sign 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME RETINITIS PIGMENTOSA 8, FORMERLY; RP8, FORMERLY;; RETINITIS PIGMENTOSA 21, FORMERLY; RP21, FORMERLY
Number Sign 500005 HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL
Number Sign 500006 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
Number Sign 500007 CYCLIC VOMITING SYNDROME; CVS CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED;; CYCLIC VOMITING SYNDROME-PLUS, INCLUDED;; CVS-PLUS, INCLUDED
Number Sign 500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Number Sign 500009 MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT, DUE TO RESPIRATORY CHAIN DEFICIENCY;; COX DEFICIENCY MYOPATHY, INFANTILE, TRANSIENT;; RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT
Number Sign 500010 ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
Number Sign 500011 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3; MLASA3
Number Sign 502000 AGING
Number Sign 502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
Caret 510000 REMOVED FROM DATABASE
Number Sign 515000 CHLORAMPHENICOL TOXICITY ANEMIA, CHLORAMPHENICOL-INDUCED CHLORAMPHENICOL RESISTANCE, INCLUDED
Asterisk 516000 COMPLEX I, SUBUNIT ND1; MTND1 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1;; NADH DEHYDROGENASE, SUBUNIT 1
Asterisk 516001 COMPLEX I, SUBUNIT ND2; MTND2 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND2;; NADH DEHYDROGENASE, SUBUNIT 2
Asterisk 516002 COMPLEX I, SUBUNIT ND3; MTND3 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND3;; NADH DEHYDROGENASE, SUBUNIT 3
Asterisk 516003 COMPLEX I, SUBUNIT ND4; MTND4 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND4;; NADH DEHYDROGENASE, SUBUNIT 4
Asterisk 516004 COMPLEX I, SUBUNIT ND4L; MTND4L NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND4L;; NADH DEHYDROGENASE, SUBUNIT 4L
Asterisk 516005 COMPLEX I, SUBUNIT ND5; MTND5 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND5;; NADH DEHYDROGENASE, SUBUNIT 5
Asterisk 516006 COMPLEX I, SUBUNIT ND6; MTND6 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND6;; NADH DEHYDROGENASE, SUBUNIT 6
Asterisk 516020 CYTOCHROME b OF COMPLEX III; MTCYB COMPLEX III, CYTOCHROME b SUBUNIT;; UBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT
Asterisk 516030 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I; MTCO1 CYTOCHROME c OXIDASE I; CO1; COX1
Asterisk 516040 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT II; MTCO2 CYTOCHROME c OXIDASE II; COII; COX2
Asterisk 516050 CYTOCHROME c OXIDASE III; MTCO3 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT III; COIII
Plus 516060 ATP SYNTHASE 6; MTATP6 COMPLEX V, ATP SYNTHASE, SUBUNIT ATPase 6; ATP6 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1, INCLUDED; MC5DM1, INCLUDED
Plus 516070 ATP SYNTHASE 8; MTATP8 COMPLEX V, ATP SYNTHASE, SUBUNIT ATPase 8; ATP8 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 2, INCLUDED; MC5DM2, INCLUDED;; BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO, INCLUDED;; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY, INCLUDED
Number Sign 520000 DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED;; BALLINGER-WALLACE SYNDROME;; DIABETES MELLITUS, TYPE II, WITH DEAFNESS;; NONINSULIN-DEPENDENT DIABETES MELLITUS WITH DEAFNESS;; NIDDM WITH DEAFNESS
Number Sign 520100 DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY
Number Sign 530000 KEARNS-SAYRE SYNDROME; KSS OPHTHALMOPLEGIA, PIGMENTARY DEGENERATION OF RETINA, AND CARDIOMYOPATHY;; OCULOCRANIOSOMATIC SYNDROME;; OPHTHALMOPLEGIA-PLUS SYNDROME;; MITOCHONDRIAL CYTOPATHY;; OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, WITH RAGGED-RED FIBERS;; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY;; CPEO WITH MYOPATHY;; CPEO WITH RAGGED-RED FIBERS
Number Sign 535000 LEBER OPTIC ATROPHY LEBER HEREDITARY OPTIC NEUROPATHY; LHON
Number Sign 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS MELAS SYNDROME
Number Sign 545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF MERRF SYNDROME
Caret 550000 MOVED TO 157640
Number Sign 550500 MYOGLOBINURIA, RECURRENT
Caret 550900 MOVED TO 603041
Number Sign 551000 MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE; LIMM
Number Sign 551200 NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL
Number Sign 551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA NARP SYNDROME
Number Sign 553000 ONCOCYTOMA
Caret 555000 MOVED TO 607313
Number Sign 556500 PARKINSON DISEASE, MITOCHONDRIAL
Number Sign 557000 PEARSON MARROW-PANCREAS SYNDROME SIDEROBLASTIC ANEMIA WITH MARROW CELL VACUOLIZATION AND EXOCRINE PANCREATIC DYSFUNCTION
Number Sign 560000 RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA
Asterisk 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1 rRNA, 12S, MITOCHONDRIAL
Asterisk 561010 RIBOSOMAL RNA, MITOCHONDRIAL, 16S; MTRNR2 rRNA, 16S, MITOCHONDRIAL HUMANIN, INCLUDED; HN, INCLUDED;; HUMANIN, MITOCHONDRIAL, INCLUDED;; HNM, INCLUDED
Number Sign 580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, STREPTOMYCIN-INDUCED;; STREPTOMYCIN OTOTOXICITY
Asterisk 590000 TRANSFER RNA, MITOCHONDRIAL, ALANINE; MTTA tRNA-ALA, MITOCHONDRIAL
Asterisk 590005 TRANSFER RNA, MITOCHONDRIAL, ARGININE; MTTR tRNA-ARG, MITOCHONDRIAL
Asterisk 590010 TRANSFER RNA, MITOCHONDRIAL, ASPARAGINE; MTTN tRNA-ASN, MITOCHONDRIAL
Asterisk 590015 TRANSFER RNA, MITOCHONDRIAL, ASPARTIC ACID; MTTD tRNA-ASP, MITOCHONDRIAL
Asterisk 590020 TRANSFER RNA, MITOCHONDRIAL, CYSTEINE; MTTC tRNA-CYS, MITOCHONDRIAL
Asterisk 590025 TRANSFER RNA, MITOCHONDRIAL, GLUTAMIC ACID; MTTE tRNA-GLU, MITOCHONDRIAL
Asterisk 590030 TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE; MTTQ tRNA-GLN, MITOCHONDRIAL
Asterisk 590035 TRANSFER RNA, MITOCHONDRIAL, GLYCINE; MTTG tRNA-GLY, MITOCHONDRIAL
Asterisk 590040 TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH tRNA-HIS, MITOCHONDRIAL
Asterisk 590045 TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE; MTTI tRNA-ILE, MITOCHONDRIAL
Asterisk 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1 tRNA-LEU, MITOCHONDRIAL, 1
Asterisk 590055 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2; MTTL2 tRNA-LEU, MITOCHONDRIAL, 2
Asterisk 590060 TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK tRNA-LYS, MITOCHONDRIAL
Asterisk 590065 TRANSFER RNA, MITOCHONDRIAL, METHIONINE; MTTM tRNA-MET, MITOCHONDRIAL
Asterisk 590070 TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE; MTTF tRNA-PHE, MITOCHONDRIAL
Asterisk 590075 TRANSFER RNA, MITOCHONDRIAL, PROLINE; MTTP tRNA-PRO, MITOCHONDRIAL
Asterisk 590080 TRANSFER RNA, MITOCHONDRIAL, SERINE, 1; MTTS1 tRNA-SER, MITOCHONDRIAL, 1
Asterisk 590085 TRANSFER RNA, MITOCHONDRIAL, SERINE, 2; MTTS2 tRNA-SER, MITOCHONDRIAL, 2
Asterisk 590090 TRANSFER RNA, MITOCHONDRIAL, THREONINE; MTTT tRNA-THR, MITOCHONDRIAL
Asterisk 590095 TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN; MTTW tRNA-TRP, MITOCHONDRIAL
Asterisk 590100 TRANSFER RNA, MITOCHONDRIAL, TYROSINE; MTTY tRNA-TYR, MITOCHONDRIAL
Asterisk 590105 TRANSFER RNA, MITOCHONDRIAL, VALINE; MTTV tRNA-VAL, MITOCHONDRIAL
Number Sign 598500 WOLFRAM SYNDROME, MITOCHONDRIAL FORM DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS, MITOCHONDRIAL FORM;; DIDMOAD SYNDROME, MITOCHONDRIAL FORM
NULL 600000 SPONDYLOCAMPTODACTYLY CAMPTODACTYLY WITH CERVICAL PLATYSPONDYLY
Number Sign 600001 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; HDCA PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE;; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD
Number Sign 600002 EIKEN SYNDROME EIKEN SKELETAL DYSPLASIA;; BONE MODELING DEFECT OF HANDS AND FEET
Asterisk 600003 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2 Ca(V) BETA-2; CAVB2;; MYASTHENIC SYNDROME ANTIGEN B; MYSB;; LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN
Asterisk 600004 EPHRIN RECEPTOR EphA5; EPHA5 HEK7;; EPH HOMOLOGY KINASE 1, RAT, HOMOLOG OF;; EHK1, RAT, HOMOLOG OF;; BSK, MOUSE, HOMOLOG OF;; TYRO4
Asterisk 600005 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, TRANSACTIVATOR; MHC2TA MHC CLASS II TRANSACTIVATOR;; CLASS II TRANSACTIVATOR; C2TA; CIITA
Asterisk 600006 REGULATORY FACTOR X, 1; RFX1
Asterisk 600007 FMS-RELATED TYROSINE KINASE 3 LIGAND; FLT3LG FLT3 LIGAND; FL; FLT3L
Asterisk 600008 NICOTINAMIDE N-METHYLTRANSFERASE; NNMT
Asterisk 600009 INTERFERON-ALPHA-INDUCIBLE PROTEIN 27; IFI27 INTERFERON-STIMULATED GENE 12; ISG12;; ISG12A
Asterisk 600010 INSULINOMA-ASSOCIATED 1; INSM1 IA1
Asterisk 600011 EPHRIN RECEPTOR EphB4; EPHB4 HEPATOMA TRANSMEMBRANE KINASE; HTK;; MYK, MOUSE, HOMOLOG OF; MYK1;; TYRO11
Asterisk 600012 UBIQUITIN-CONJUGATING ENZYME E2L 1; UBE2L1 UBIQUITIN-CONJUGATING ENZYME L-UBC; UBCL;; UBC4, S. CEREVISIAE, HOMOLOG OF
Asterisk 600013 TRANSCRIPTION FACTOR YY1; YY1 YIN YANG 1
Asterisk 600014 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 2; SMARCA2 SUCROSE NONFERMENTING, YEAST, HOMOLOG-LIKE 2; SNF2L2;; SNF2-LIKE 2;; SNF2/SWI2, YEAST, HOMOLOG OF;; BRM, DROSOPHILA, HOMOLOG OF; BRM
Caret 600015 MOVED TO 106165
Asterisk 600016 CONTACTIN 1; CNTN1
Asterisk 600017 SYNDECAN 4; SDC4 SYND4;; RYUDOCAN;; AMPHIGLYCAN
Asterisk 600018 OPIOID RECEPTOR, MU-1; OPRM1 OPRM;; MU OPIOID RECEPTOR; MOR;; MOR1
Asterisk 600019 CYTOCHROME b561; CYB561
Asterisk 600020 MAX-INTERACTING PROTEIN 1; MXI1
Asterisk 600021 MAX DIMERIZATION PROTEIN 1; MXD1 MAD1;; BHLHC58
Asterisk 600022 PROSTAGLANDIN I2 RECEPTOR; PTGIR PROSTANOID IP RECEPTOR; PRIPR;; PROSTACYCLIN RECEPTOR
Asterisk 600023 CADHERIN 11; CDH11 CADHERIN, OSTEOBLAST;; OB-CADHERIN; CDHOB
Asterisk 600024 LAMIN B RECEPTOR; LBR LMN2R
Asterisk 600025 KINESIN LIGHT CHAIN 1; KLC1 KINESIN 2; KNS2;; KNS2A;; KLC
Asterisk 600026 SYNTROPHIN, BETA-1; SNTB1 SNT2B1;; DYSTROPHIN-ASSOCIATED PROTEIN, BASIC A1; A1B;; DAPA1B
Asterisk 600027 SYNTROPHIN, BETA-2; SNTB2 SNT2B2;; SYNTROPHIN-LIKE; SNTL
Asterisk 600028 DISTAL-LESS HOMEOBOX 5; DLX5
Asterisk 600029 DISTAL-LESS HOMEOBOX 1; DLX1
Asterisk 600030 DISTAL-LESS HOMEOBOX 6; DLX6
Asterisk 600031 CHITINASE 1; CHIT1 CHITINASE, MACROPHAGE; CHIT;; CHITOTRIOSIDASE;; METHYLUMBELLIFERYL-TETRA-N-ACETYLCHITOTETRAOSIDE HYDROLASE
Caret 600032 MOVED TO 182455
Asterisk 600033 TISSUE FACTOR PATHWAY INHIBITOR 2; TFPI2 PLACENTAL PROTEIN 5; PP5;; RETINAL PIGMENT EPITHELIUM CELL FACTOR 1; REF1
Asterisk 600034 EMPTY SPIRACLES, DROSOPHILA, HOMOLOG OF, 1; EMX1
Asterisk 600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2
Asterisk 600036 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 1; OTX1
Asterisk 600037 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2; OTX2
Asterisk 600038 MEGAKARYOCTYE-ASSOCIATED TYROSINE KINASE; MATK HEMATOPOIETIC CONSENSUS TYROSINE-LACKING KINASE; HYL;; CSK-TYPE PROTEIN TYROSINE KINASE; CTK
Asterisk 600039 BCL2-LIKE 1; BCL2L1 BCL2-RELATED GENE; BCLX BCL2-RELATED PROTEIN, LONG ISOFORM, INCLUDED; BCLXL, INCLUDED;; BCL2-RELATED PROTEIN, SHORT ISOFORM, INCLUDED; BCLXS, INCLUDED
Asterisk 600040 BCL2-ASSOCIATED X PROTEIN; BAX
Asterisk 600041 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 2; P2RY2 PURINOCEPTOR P2Y2; P2Y2; P2Y2R;; P2U NUCLEOTIDE RECEPTOR; P2UR
Asterisk 600042 MELANOCORTIN 5 RECEPTOR; MC5R MC5 RECEPTOR
Asterisk 600043 SULFOTRANSFERASE FAMILY 1E, ESTROGEN-PREFERRING, MEMBER 1; SULT1E1 SULFOTRANSFERASE, ESTROGEN-PREFERRING; STE;; ESTROGEN SULFOTRANSFERASE, LIVER; EST ARYL SULFOTRANSFERASE, INCLUDED
Asterisk 600044 THROMBOPOIETIN; THPO TPO;; MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE LIGAND;; MPL LIGAND;; MEGAKARYOCYTE COLONY-STIMULATING FACTOR; MKCSF;; MEGAKARYOCYTE GROWTH AND DEVELOPMENT FACTOR; MGDF
Asterisk 600045 DNA DAMAGE-BINDING PROTEIN 1; DDB1 DDB, p127 SUBUNIT
Plus 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1 ATP-BINDING CASSETTE 1; ABC1;; ATP-BINDING CASSETTE TRANSPORTER 1;; ABC TRANSPORTER 1;; CHOLESTEROL EFFLUX REGULATORY PROTEIN; CERP CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST, INCLUDED;; HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 13, INCLUDED; HDLCQ13, INCLUDED
Asterisk 600047 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 2; ABCA2 ATP-BINDING CASSETTE 2; ABC2;; ATP-BINDING CASSETTE TRANSPORTER 2;; ABC TRANSPORTER 2;; KIAA1062
Caret 600048 MOVED TO 114480
Asterisk 600049 MDS1 GENE; MDS1 MDS1/AML1 FUSION GENE, INCLUDED
Asterisk 600050 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 11; MAP3K11 MIXED-LINEAGE PROTEIN KINASE 3; MLK3;; PROTEIN-TYROSINE KINASE PTK1; PTK1
Asterisk 600051 EPIDERMAL GROWTH FACTOR RECEPTOR PATHWAY SUBSTRATE 15; EPS15 ALL1-FUSED GENE FROM CHROMOSOME 1; AF1P
Asterisk 600052 APELIN RECEPTOR; APLNR APJ PUTATIVE RECEPTOR PROTEIN RELATED TO ANGIOTENSIN RECEPTOR; APJR;; ANGIOTENSIN RECEPTOR-LIKE 1; AGTRL1
Asterisk 600053 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3 CONE PHOTORECEPTOR cGMP-GATED CHANNEL;; CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3; CNG3
Caret 600054 MOVED TO 300338
Caret 600055 MOVED TO 426000
Caret 600056 MOVED TO 314690
Percent 600057 EXSTROPHY OF BLADDER BLADDER EXSTROPHY AND EPISPADIAS COMPLEX, INCLUDED; BEEC, INCLUDED
Asterisk 600058 PROTEIN TYROSINE KINASE TXK; TXK RESTING LYMPHOCYTE KINASE; RLK
Number Sign 600059 RETINITIS PIGMENTOSA 13; RP13
Number Sign 600060 DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2; NSRD2
Asterisk 600061 RAD23, YEAST, HOMOLOG OF, A; RAD23A HHR23A
Asterisk 600062 RAD23, YEAST, HOMOLOG OF, B; RAD23B HHR23B;; HR23B
Asterisk 600063 TROVE DOMAIN FAMILY, MEMBER 2; TROVE2 AUTOANTIGEN Ro/SSA, 60-KD; RO60;; SJOGREN SYNDROME ANTIGEN A2; SSA2
Asterisk 600064 KERATIN-ASSOCIATED PROTEIN 11-1; KRTAP11-1 HAIR FOLLICLE-SPECIFIC GENE 1; HACL1
Asterisk 600065 INTEGRIN, BETA-2; ITGB2 LEUKOCYTE CELL ADHESION MOLECULE CD18; CD18 LEUKOCYTE-ASSOCIATED ANTIGENS CD18/11A, CD18/11B, CD18/11C, INCLUDED
Asterisk 600066 EPHRIN RECEPTOR EphA6; EPHA6 HEK12;; EPH HOMOLOGY KINASE 2, RAT, HOMOLOG OF;; EHK2, RAT, HOMOLOG OF
Asterisk 600067 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B4; UGT2B4 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B4;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B4;; URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B11, FORMERLY;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B11, FORMERLY; UGT2B11, FORMERLY
Asterisk 600068 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B7; UGT2B7 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B7;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B7;; URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B9;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B9; UGT2B9
Asterisk 600069 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B15; UGT2B15 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B15;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B15;; URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B8;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B8; UGT2B8
Asterisk 600070 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B10; UGT2B10 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B10;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B10
Caret 600071 MOVED TO 600067
Number Sign 600072 FATAL FAMILIAL INSOMNIA; FFI INSOMNIA, FATAL FAMILIAL
Asterisk 600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2 GLYCOPROTEIN 330;; MEGALIN
Asterisk 600074 CD24 ANTIGEN; CD24
Asterisk 600075 TATA BOX-BINDING PROTEIN; TBP SCA17 GENE
Asterisk 600076 TENSIN 1; TNS1 TENSIN; TNS
Caret 600077 MOVED TO 224750
Caret 600078 MOVED TO 300012
Asterisk 600079 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 12; PTPN12 PROTEIN-TYROSINE PHOSPHATASE G1; PTPG1;; PTP-PEST
NULL 600080 MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC CML-LIKE SYNDROME, FAMILIAL
Number Sign 600081 VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B VITAMIN D-DEPENDENT RICKETS, TYPE 1B;; 25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE;; PSEUDOVITAMIN D3 DEFICIENCY RICKETS DUE TO 25-HYDROXYLASE DEFICIENCY
Percent 600082 PROSTATIC HYPERPLASIA, BENIGN; BPH
Caret 600083 MOVED TO 300144
NULL 600084 MACROCYTOSIS, FAMILIAL
Asterisk 600085 PROTEIN-TYROSINE KINASE SYK; SYK SPLEEN TYROSINE KINASE
Asterisk 600086 ALCOHOL DEHYDROGENASE 7; ADH7 ADH, CLASS IV
Asterisk 600087 TUFTELIN; TUFT1
Caret 600088 MOVED TO 113810
NULL 600089 PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS
Caret 600090 MOVED TO 300013
Caret 600091 MOVED TO 158600
NULL 600092 CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME
NULL 600093 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES
Caret 600094 MOVED TO 300095
Caret 600095 MOVED TO 246560
NULL 600096 PUERTO RICAN INFANT HYPOTONIA SYNDROME
Caret 600097 MOVED TO 300106
Asterisk 600098 RELATED RAS VIRAL ONCOGENE HOMOLOG 2; RRAS2 ONCOGENE RRAS2;; TERATOCARCINOMA ONCOGENE TC21; TC21
Caret 600099 MOVED TO 246530
Caret 600100 MOVED TO 601792
Number Sign 600101 DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A
Caret 600102 MOVED TO 300067
Asterisk 600103 SYNAPTOTAGMIN 4; SYT4
Asterisk 600104 SYNAPTOTAGMIN 2; SYT2
Number Sign 600105 RETINITIS PIGMENTOSA 12; RP12 RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM;; RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM;; RP WITH OR WITHOUT PPRPE
Asterisk 600106 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 40-KD; INPP5A
Caret 600107 MOVED TO 300014
Asterisk 600108 MATRIX METALLOPROTEINASE 13; MMP13 COLLAGENASE 3; CLG3
Caret 600109 MOVED TO 602668
Number Sign 600110 STARGARDT DISEASE 3; STGD3 MACULAR DYSTROPHY WITH FLECKS, TYPE 3;; STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT
Asterisk 600111 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER), MEMBER 3; SLC1A3 EXCITATORY AMINO ACID TRANSPORTER 1; EAAT1;; GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER;; GLUTAMATE/ASPARTATE TRANSPORTER, HIGH AFFINITY, SODIUM-DEPENDENT; GLAST1;; GLAST
Asterisk 600112 DYNEIN, CYTOPLASMIC 1, HEAVY CHAIN 1; DYNC1H1 DNCH1;; DYNEIN, CYTOPLASMIC-LIKE; DNCL; DNECL;; DYNEIN HEAVY POLYPEPTIDE, CYTOPLASMIC; DHC1; DHC1A;; DNCHC1
Caret 600113 MOVED TO 300005
Asterisk 600114 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 3; CCT3 CHAPERONIN CONTAINING TCP1, SUBUNIT 3;; CCT-GAMMA; CCTG;; TCP1 RING COMPLEX, POLYPEPTIDE 5; TRIC5
Caret 600115 MOVED TO 163260
Number Sign 600116 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ;; PARKINSONISM, EARLY-ONSET, WITH DIURNAL FLUCTUATION; EPDF
NULL 600117 DYSPHASIA, FAMILIAL DEVELOPMENTAL
Number Sign 600118 WARBURG MICRO SYNDROME 1; WARBM1 MICRO SYNDROME
Asterisk 600119 SARCOGLYCAN, ALPHA; SGCA ADHALIN; ADL;; DYSTROGLYCAN 2; DAG2;; DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 50-KD;; 50-DAG
Caret 600120 MOVED TO 186100
Number Sign 600121 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3 ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY;; ALKYLGLYCERONE-PHOSPHATE SYNTHASE DEFICIENCY;; AGPS DEFICIENCY
NULL 600122 MALE PSEUDOHERMAPHRODITISM/MENTAL RETARDATION SYNDROME, VERLOES TYPE VERLOES SYNDROME
NULL 600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS
Asterisk 600124 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2/B1; HNRNPA2B1 HNRPA2B1 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2, INCLUDED; HNRPA2, INCLUDED;; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN B1, INCLUDED; HNRPB1, INCLUDED
Caret 600125 MOVED TO 126065
Asterisk 600126 PHOSPHODIESTERASE 4A, cAMP-SPECIFIC; PDE4A DUNCE-LIKE PHOSPHODIESTERASE E2, FORMERLY; DPDE2, FORMERLY
Asterisk 600127 PHOSPHODIESTERASE 4B, cAMP-SPECIFIC; PDE4B DUNCE-LIKE PHOSPHODIESTERASE E4, FORMERLY; DPDE4, FORMERLY
Asterisk 600128 PHOSPHODIESTERASE 4C, cAMP-SPECIFIC; PDE4C DUNCE-LIKE PHOSPHODIESTERASE E1, FORMERLY; DPDE1, FORMERLY
Asterisk 600129 PHOSPHODIESTERASE 4D, cAMP-SPECIFIC; PDE4D DUNCE-LIKE PHOSPHODIESTERASE E3, FORMERLY; DPDE3, FORMERLY
Asterisk 600130 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE 1; APOBEC1 BEDP
Percent 600131 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1; ECA1
Number Sign 600132 RETINITIS PIGMENTOSA 14; RP14
Asterisk 600133 LAMININ, ALPHA-4; LAMA4 LAMA3, FORMERLY
Caret 600134 MOVED TO 605158
Asterisk 600135 CORTEXIN 1; CTXN1 CTXN
Asterisk 600136 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 9; MAP3K9 MIXED-LINEAGE KINASE 1; MLK1
Asterisk 600137 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 10; MAP3K10 MIXED-LINEAGE KINASE 2; MLK2;; MKN28 KINASE;; SERINE/THREONINE KINASE, MKN28-DERIVED, NONRECEPTOR-TYPE; MST
Number Sign 600138 RETINITIS PIGMENTOSA 11; RP11
Caret 600139 MOVED TO 137800
Asterisk 600140 CREB-BINDING PROTEIN; CREBBP CBP CBP/MOZ FUSION GENE, INCLUDED
Asterisk 600141 HEAT-SHOCK 10-KD PROTEIN; HSPE1 CHAPERONIN 10 HOMOLOG;; cpn10 HOMOLOG;; GroES HOMOLOG; GroES;; HSP10
Number Sign 600142 CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL MAEDA SYNDROME;; SUBCORTICAL VASCULAR ENCEPHALOPATHY, PROGRESSIVE;; CEREBROVASCULAR DISEASE WITH THIN SKIN, ALOPECIA, AND DISC DISEASE
Number Sign 600143 CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8
Asterisk 600144 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 2; ITPR2
Number Sign 600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE SDAM CAUDAL DYSGENESIS SYNDROME, INCLUDED;; CAUDAL REGRESSION SYNDROME, INCLUDED;; SACRAL AGENESIS, INCLUDED;; SIRENOMELIA, INCLUDED
Caret 600146 MOVED TO 270800
Asterisk 600147 MESENCHYME HOMEOBOX 1; MEOX1 MOX1 DIVERGED HOMEOBOX GENE;; MOX1, MOUSE, HOMOLOG OF
NULL 600148 GLYCEROL KINASE 2; GK2 GLYCEROL KINASE, TESTICULAR, TYPE A; GKTA;; GLYCEROL KINASE PSEUDOGENE 2; GKP2
NULL 600149 GLYCEROL KINASE 3 PSEUDOGENE; GK3P GLYCEROL KINASE, TESTICULAR, TYPE B; GKTB;; GKP3
Asterisk 600150 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, ALPHA MEMBER 1; KCNMA1 SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO;; SLO1;; SLO-ALPHA resulting in
Number Sign 600151 BARDET-BIEDL SYNDROME 3; BBS3
Asterisk 600152 SEC13-LIKE PROTEIN 1; SEC13L1 SEC13, YEAST, HOMOLOG OF; SEC13;; SEC13-RELATED PROTEIN; SEC13R;; D3S1231E
Asterisk 600153 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS F PROTEIN; PIGF
Asterisk 600154 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS H PROTEIN; PIGH
Number Sign 600155 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2
Percent 600156 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5; HSCR5
Asterisk 600157 ADAPTOR-RELATED PROTEIN COMPLEX 1, BETA-1 SUBUNIT; AP1B1 ADAPTIN, BETA-1; ADTB1;; ADAPTIN, BETA-PRIME;; BETA-ADAPTIN-MENINGIOMA GENE ON CHROMOSOME 22; BAM22
Caret 600158 MOVED TO 251290
NULL 600159 PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES
Asterisk 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A CDKN2;; CDK4 INHIBITOR;; MULTIPLE TUMOR SUPPRESSOR 1; MTS1;; TP16;; p16(INK4);; p16(INK4A) p14(ARF), INCLUDED;; p12, INCLUDED;; p16-GAMMA, INCLUDED
Asterisk 600161 PRADER-WILLI/ANGELMAN REGION RNA 1; PWAR1 PAR1;; D15S227E
Asterisk 600162 PRADER-WILLI/ANGELMAN REGION RNA 5; PWAR5 PAR5;; D15S226E
Asterisk 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A NAV1.5
Asterisk 600164 GTP-BINDING MITOGEN-INDUCED T-CELL PROTEIN; GEM KINASE-INDUCIBLE RAS-LIKE PROTEIN; KIR
Percent 600165 NANOPHTHALMOS 1; NNO1 NANOPHTHALMIA 1;; NANOPHTHALMOS, AUTOSOMAL DOMINANT;; NANOPHTHALMOS WITH HIGH HYPEROPIA AND ANGLE-CLOSURE GLAUCOMA;; MICROPHTHALMOS, SIMPLE, AUTOSOMAL DOMINANT
NULL 600166 HYPERPARATHYROIDISM, PRIMARY, CAUSED BY WATER CLEAR CELL HYPERPLASIA
Asterisk 600167 HISTAMINE RECEPTOR H1; HRH1 BPHS, MOUSE, HOMOLOG OF;; H1R
Asterisk 600168 MACROPHAGE STIMULATING 1 RECEPTOR; MST1R RON PROTEIN TYROSINE KINASE; RON;; MACROPHAGE STIMULATING PROTEIN RECEPTOR;; MSP RECEPTOR
Asterisk 600169 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE A; MICA
Asterisk 600170 AQUAPORIN 3; AQP3
NULL 600171 GONADAL AGENESIS
Asterisk 600172 METAL-REGULATORY TRANSCRIPTION FACTOR 1; MTF1
Asterisk 600173 JANUS KINASE 3; JAK3 JANUS KINASE, LEUKOCYTE; JAKL;; LJAK
Asterisk 600174 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, ALPHA; PITPNA PITPN
Number Sign 600175 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; HMN8 NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; DHMN8;; SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE;; SPINAL MUSCULAR ATROPHY, CONGENITAL BENIGN, WITH CONTRACTURES
Percent 600176 PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES
Caret 600177 MOVED TO 300102
Asterisk 600178 MICROTUBULE-ASSOCIATED PROTEIN 1A; MAP1A MTAP1A
Asterisk 600179 GUANYLATE CYCLASE 2D, MEMBRANE; GUCY2D GUC2D;; GUANYLATE CYCLASE 2D, RETINAL;; GUCY2E, MOUSE, HOMOLOG OF;; ROD OUTER SEGMENT MEMBRANE GUANYLATE CYCLASE; ROSGC;; RETGC;; RETGC1
Caret 600180 MOVED TO 108355
Asterisk 600181 LIPOCALIN 2; LCN2 NEUTROPHIL GELATINASE-ASSOCIATED LIPOCALIN; NGAL;; ONCOGENIC LIPOCALIN 24P3;; UTEROCALIN
Asterisk 600182 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 5; SLC7A5 MEMBRANE PROTEIN E16; E16; MPE16;; L-TYPE AMINO ACID TRANSPORTER 1; LAT1;; ANTIGEN DEFINED BY MONOCLONAL ANTIBODY 4F2, LIGHT CHAIN; 4F2LC;; D16S469E
Asterisk 600183 DUAL-SPECIFICITY PHOSPHATASE 3; DUSP3 VH1-RELATED PHOSPHATASE; VHR;; VACCINIA VIRUS PHOSPHATASE VH1-RELATED
Asterisk 600184 CARNITINE ACETYLTRANSFERASE; CRAT CAT1
Asterisk 600185 BRCA2 GENE; BRCA2 FANCD1 GENE; FANCD1
Caret 600186 MOVED TO 300016
Asterisk 600187 EUKARYOTIC TRANSLATION INITIATION FACTOR 5A; EIF5A EIF5A1
Asterisk 600188 AMINO-TERMINAL ENHANCER OF SPLIT; AES GROUCHO-RELATED GENE 5; GRG5
Asterisk 600189 TRANSDUCIN-LIKE ENHANCER OF SPLIT 1; TLE1 ENHANCER OF SPLIT GROUCHO 1; ESG1;; GROUCHO-RELATED GENE 1; GRG1
Asterisk 600190 TRANSDUCIN-LIKE ENHANCER OF SPLIT 3; TLE3 ENHANCER OF SPLIT GROUCHO 3; ESG3
Caret 600191 MOVED TO 300018
Asterisk 600192 SYNOVIAL SARCOMA TRANSLOCATION, CHROMOSOME 18; SS18 SYNOVIAL SARCOMA, TRANSLOCATED TO X CHROMOSOME; SSXT;; SYT SYT/SSX1 FUSION GENE, INCLUDED;; SYT/SSX2 FUSION GENE, INCLUDED
Percent 600193 WAARDENBURG SYNDROME, TYPE 2B; WS2B WAARDENBURG SYNDROME, TYPE IIB
Asterisk 600194 KERATIN 2, TYPE II; KRT2 K2;; KB2;; KERATIN 2A; KRT2A;; KERATIN 2e; KRT2E
Number Sign 600195 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM VMCM1
Caret 600196 MOVED TO 300019
Asterisk 600197 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN K; MAFK NUCLEAR FACTOR ERYTHROID 2, UBIQUITOUS SUBUNIT; NFE2U;; NFE2, 18-KD SUBUNIT;; p18
Caret 600198 MOVED TO 163260
Caret 600199 MOVED TO 300021
Caret 600200 MOVED TO 133440
Asterisk 600201 AGOUTI SIGNALING PROTEIN; ASIP ASP;; AGOUTI, MOUSE, HOMOLOG OF; AGTI
Percent 600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2 READING DISABILITY, SPECIFIC, 2
Caret 600203 MOVED TO 300030
Number Sign 600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2
Caret 600205 MOVED TO 107748
Asterisk 600206 EPIDERMAL GROWTH FACTOR RECEPTOR PATHWAY SUBSTRATE 8; EPS8
Asterisk 600207 HIPPOCALCIN-LIKE 1; HPCAL1
Number Sign 600208 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
Percent 600209 EXOSTOSES, MULTIPLE, TYPE III; EXT3
Asterisk 600210 RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3 CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 3; CBFA3;; AML2 GENE; AML2;; PEBP2-ALPHA-C; PEBP2AC
Asterisk 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2 CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 1; CBFA1;; AML3 GENE; AML3;; PEBP2-ALPHA-A;; OSF2
Asterisk 600212 FATTY ACID SYNTHASE; FASN
Caret 600213 MOVED TO 176310
Asterisk 600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER RECEPTOR FOR ADVANCED GLYCATION END PRODUCTS; RAGE
Asterisk 600215 MICROFIBRILLAR-ASSOCIATED PROTEIN 1; MFAP1
Caret 600216 MOVED TO 400002
Caret 600217 MOVED TO 601545
Caret 600218 MOVED TO 600068
Caret 600219 MOVED TO 600069
Asterisk 600220 PHOSPHOLIPASE C, GAMMA-2; PLCG2 PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC
Asterisk 600221 TEK TYROSINE KINASE, ENDOTHELIAL; TEK PROTEIN RECEPTOR TYROSINE KINASE, EPITHELIAL-SPECIFIC, TIE-2; TIE2
Asterisk 600222 TYROSINE KINASE WITH IMMUNOGLOBULIN AND EGF FACTOR HOMOLOGY DOMAINS 1; TIE1 PROTEIN RECEPTOR TYROSINE KINASE TIE 1;; TIE
Percent 600223 SPINOCEREBELLAR ATAXIA 4; SCA4 SPINOCEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHY
Number Sign 600224 SPINOCEREBELLAR ATAXIA 5; SCA5
Asterisk 600225 GTP CYCLOHYDROLASE I; GCH1
Caret 600226 MOVED TO 300031
Asterisk 600227 CYCLIN F; CCNF F-BOX ONLY PROTEIN 1; FBXO1; FBX1
Asterisk 600228 SODIUM CHANNEL, NONVOLTAGE-GATED 1, ALPHA SUBUNIT; SCNN1A SCNN1;; SODIUM CHANNEL, EPITHELIAL, ALPHA SUBUNIT; SCNEA
Asterisk 600229 SOLUTE CARRIER FAMILY 1 (GLUTAMATE/NEUTRAL AMINO ACID TRANSPORTER), MEMBER 4; SLC1A4 NEUTRAL AMINO ACID TRANSPORTER; ASCT1
Asterisk 600230 PHOSPHOLIPASE C, BETA-3; PLCB3
Number Sign 600231 PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB
Asterisk 600232 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-2; GABRB2 GABA-A RECEPTOR, BETA-2 POLYPEPTIDE
Asterisk 600233 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-3; GABRG3 GABA-A RECEPTOR, GAMMA-3 POLYPEPTIDE
Asterisk 600234 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2; HMGCS2 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE, MITOCHONDRIAL;; HMG-CoA SYNTHASE, MITOCHONDRIAL;; MITOCHONDRIAL HMG-CoA SYNTHASE
Asterisk 600235 SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, BETA SUBUNIT; SCN1B
Asterisk 600236 CENTROMERIC PROTEIN F; CENPF MITOSIN
Asterisk 600237 HISTONE CELL CYCLE REGULATION DEFECTIVE, S. CEREVISIAE, HOMOLOG OF, A; HIRA HIR, S. CEREVISIAE, HOMOLOG OF, A;; TUP-LIKE ENHANCER OF SPLIT 1; TUPLE1;; DIGEORGE SYNDROME CRITICAL REGION GENE 1; DGCR1
Asterisk 600238 TRANSGLUTAMINASE 3; TGM3 TRANSGLUTAMINASE E; TGE
Asterisk 600239 G PROTEIN-COUPLED RECEPTOR 1; GPR1
Asterisk 600240 CHEMOKINE (C-C) RECEPTOR 10; CCR10 G PROTEIN-COUPLED RECEPTOR 2; GPR2
Asterisk 600241 G PROTEIN-COUPLED RECEPTOR 3; GPR3 ADENYLATE CYCLASE CONSTITUTIVE ACTIVATOR; ACCA
Asterisk 600242 CHEMOKINE, CC MOTIF, RECEPTOR 7; CCR7 EPSTEIN-BARR VIRUS-INDUCED GENE 1; EBI1;; CMKBR7
Asterisk 600243 DEFENDER AGAINST CELL DEATH 1; DAD1
Asterisk 600244 PROGRAMMED CELL DEATH 1; PDCD1 PD1;; CD279 ANTIGEN; CD279
Asterisk 600245 FIBROMODULIN; FMOD
Asterisk 600246 ELK4, ETS-DOMAIN PROTEIN; ELK4 SRF ACCESSORY PROTEIN 1; SAP1
Asterisk 600247 ELK3, ETS-DOMAIN PROTEIN; ELK3 SRF ACCESSORY PROTEIN 2; SAP2;; ETS-RELATED PROTEIN; ERP;; NET
Caret 600248 MOVED TO 300009
Asterisk 600249 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER L1; ALDH1L1 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE; FTHFD;; 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE, CYTOSOLIC;; CYTOSOLIC 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE
Asterisk 600250 CHEMOKINE, C MOTIF, LIGAND 1; XCL1 SMALL INDUCIBLE CYTOKINE SUBFAMILY C, MEMBER 1; SCYC1;; SINGLE CYSTEINE MOTIF 1; SCM1;; SINGLE CYSTEINE MOTIF 1A; SCM1A;; LYMPHOTACTIN; LTN
Number Sign 600251 FACIAL CLEFTING, OBLIQUE, 1; OBLFC1 OCULOMAXILLOFACIAL DYSPLASIA WITH OBLIQUE FACIAL CLEFTS
NULL 600252 LOWRY-MACLEAN SYNDROME
Asterisk 600253 ARYL HYDROCARBON RECEPTOR; AHR
Caret 600254 MOVED TO 300032
Caret 600255 MOVED TO 400000
Caret 600256 MOVED TO 123155
Number Sign 600257 CHROMOSOME 8q12.1-q21.2 DELETION SYNDROME BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME
Asterisk 600258 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 1; PMS1 MISMATCH REPAIR GENE PMSL1; PMSL1
Asterisk 600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2 MISMATCH REPAIR GENE PMSL2; PMSL2
Caret 600260 MOVED TO 300008
Caret 600261 REMOVED FROM DATABASE
Asterisk 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2 CYCLOOXYGENASE 2; COX2;; PROSTAGLANDIN G/H SYNTHASE 2; PGHS2;; PHS II;; GLUCOCORTICOID-REGULATED INFLAMMATORY PROSTAGLANDIN G/H SYNTHASE; GRIPGHS
Number Sign 600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO
Asterisk 600264 ARGININE VASOPRESSIN RECEPTOR 1B; AVPR1B ANTIDIURETIC HORMONE, RECEPTOR FOR, V1B;; VASOPRESSIN V1B RECEPTOR;; PITUITARY VASOPRESSIN RECEPTOR 3; AVPR3
Caret 600265 MOVED TO 300033
Asterisk 600266 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER), MEMBER 1; SLC11A1 NATURAL RESISTANCE-ASSOCIATED MACROPHAGE PROTEIN 1; NRAMP1; NRAMP
Asterisk 600267 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 13; PTPN13 PROTEIN-TYROSINE PHOSPHATASE PTPL1;; FAS-ASSOCIATED PROTEIN-TYROSINE PHOSPHATASE 1; FAP1
Percent 600268 OCULOECTODERMAL SYNDROME; OES APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
NULL 600269 SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES; STALE
Asterisk 600270 PROCOLLAGEN C-ENDOPEPTIDASE ENHANCER; PCOLCE PROCOLLAGEN, TYPE I, COOH-TERMINAL PROTEINASE ENHANCER
Asterisk 600271 DESMOCOLLIN 3; DSC3 DESMOCOLLIN 4; DSC4
Asterisk 600272 COILIN; COIL COILIN p80; CLN80
Number Sign 600273 POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; PKDTS CHROMOSOME 16p13.3 DELETION SYNDROME, DISTAL;; TUBEROUS SCLEROSIS/POLYCYSTIC KIDNEY DISEASE CONTIGUOUS GENE SYNDROME
Number Sign 600274 FRONTOTEMPORAL DEMENTIA; FTD FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS;; FTLD WITH TAU INCLUSIONS;; DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM;; FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM;; FRONTOTEMPORAL LOBE DEMENTIA; FLDEM;; FTDP17;; MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA; MSTD;; DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX; DDPAC;; WILHELMSEN-LYNCH DISEASE; WLD;; PALLIDOPONTONIGRAL DEGENERATION; PPND PICK COMPLEX, INCLUDED
Asterisk 600275 NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2
Asterisk 600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3
Asterisk 600277 INHIBITOR OF DNA BINDING 3; ID3 HEIR1
Asterisk 600278 RAP1, GTPase-ACTIVATING PROTEIN 1; RAP1GA1 GTPase-ACTIVATING PROTEIN, RAP1, 1; RAP1GAP
Asterisk 600279 PEROXISOME BIOGENESIS FACTOR 19; PEX19 PEROXISOMAL FARNESYLATED PROTEIN; PXF;; HOUSEKEEPING GENE, 33-KD; HK33;; HOUSEKEEPING GENE 33;; PEROXIN 19;; D1S2223E
Asterisk 600280 NUCLEOTIDE-BINDING PROTEIN 1; NUBP1 NBP;; NBP35
Asterisk 600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A HNF4-ALPHA;; HEPATOCYTE NUCLEAR FACTOR 4; HNF4;; TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14
Asterisk 600282 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 4; GRIK4 KA1
Asterisk 600283 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 5; GRIK5 KA2
Asterisk 600284 ELONGATION FACTOR RNA POLYMERASE II; ELL ELEVEN NINETEEN LYSINE-RICH LEUKEMIA GENE
Asterisk 600285 EUKARYOTIC TRANSLATION TERMINATION FACTOR 1; ETF1 RELEASE FACTOR 1; RF1;; ERF1
Asterisk 600286 PHOSPHATIDYLINOSITOL 4-KINASE, CATALYTIC, ALPHA; PI4KA PIK4CA;; PI4K-ALPHA;; PHOSPHATIDYLINOSITOL 4-KINASE, TYPE III, ALPHA;; PI4KIII-ALPHA
Asterisk 600287 GLYCYL-tRNA SYNTHETASE; GARS
Asterisk 600288 FORKHEAD BOX A2; FOXA2 HEPATOCYTE NUCLEAR FACTOR 3-BETA; HNF3B
Asterisk 600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14 CYTOKINE-SUPPRESSIVE ANTIINFLAMMATORY DRUG-BINDING PROTEIN 1; CSBP1;; CSAID-BINDING PROTEIN 1;; STRESS-ACTIVATED PROTEIN KINASE 2A; SAPK2A;; p38 MAP KINASE; p38;; p38-ALPHA;; MXI2 CYTOKINE-SUPPRESSIVE ANTIINFLAMMATORY DRUG-BINDING PROTEIN 2, INCLUDED; CSBP2, INCLUDED;; CSAID-BINDING PROTEIN 2, INCLUDED
Caret 600290 MOVED TO 600289
Asterisk 600291 ADENYLATE CYCLASE 3; ADCY3 ADENYLYL CYCLASE 3;; KIAA0511
Asterisk 600292 ADENYLATE CYCLASE 4; ADCY4 ADENYLYL CYCLASE 4
Asterisk 600293 ADENYLATE CYCLASE 5; ADCY5 ADENYLYL CYCLASE 5
Asterisk 600294 ADENYLATE CYCLASE 6; ADCY6 ADENYLYL CYCLASE 6
Asterisk 600295 NATRIURETIC PEPTIDE PRECURSOR B; NPPB BNP;; NATRIURETIC PEPTIDE, BRAIN TYPE
Asterisk 600296 NATRIURETIC PEPTIDE PRECURSOR C; NPPC NATRIURETIC PEPTIDE, TYPE C; CNP
Asterisk 600297 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 2; CDX2 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 3; CDX3;; INSULIN-REGULATING TRANSCRIPTION FACTOR CDX3
Asterisk 600298 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, ALPHA; LMX1A LIM HOMEOBOX TRANSCRIPTION FACTOR 1; LMX1;; LMX1.1;; INSULIN-REGULATING TRANSCRIPTION FACTOR LMX1
Asterisk 600299 PERICENTRIOLAR MATERIAL 1; PCM1 PCM1/RET FUSION GENE, INCLUDED
Asterisk 600300 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER), MEMBER 2; SLC1A2 EXCITATORY AMINO ACID TRANSPORTER 2; EAAT2;; GLUTAMATE TRANSPORTER 1; GLT1 EAAT2b, INCLUDED;; GLT1A, INCLUDED;; GLT1B, INCLUDED
Asterisk 600301 ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB SBCAD;; 2-METHYLBUTYRYL-CoA DEHYDROGENASE
NULL 600302 FRYNS MACROCEPHALY MACROCEPHALY WITH SPASTIC PARAPLEGIA AND DISTINCTIVE CRANIOFACIAL APPEARANCE
Asterisk 600303 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; RAPGEF1 GUANINE NUCLEOTIDE-RELEASING FACTOR 2; GRF2;; CRK SH3-BINDING GNRP; C3G
Caret 600304 MOVED TO 170400
Asterisk 600305 ENOYL-CoA DELTA ISOMERASE 1; ECI1 DODECENOYL-CoA DELTA ISOMERASE; DCI;; 3,2-TRANS-ENOYL-CoA ISOMERASE;; DELTA-3-DELTA-2-ENOYL-CoA ISOMERASE
Asterisk 600306 PROTEASOME SUBUNIT, BETA-TYPE, 5; PSMB5 PROTEASOME SUBUNIT X;; PSX LARGE MULTIFUNCTIONAL PROTEASE X; LMPX;; PROTEASOME SUBUNIT BETA-5
Asterisk 600307 PROTEASOME SUBUNIT, BETA-TYPE, 6; PSMB6 PROTEASOME SUBUNIT DELTA;; PROTEASOME SUBUNIT Y;; PSY LARGE MULTIFUNCTIONAL PROTEASE Y; LMPY;; PROTEASOME SUBUNIT BETA-1
Asterisk 600308 AQUAPORIN 4; AQP4 MERCURIAL-INSENSITIVE WATER CHANNEL; MIWC
Number Sign 600309 ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3
Asterisk 600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP THROMBOSPONDIN V; THBS5
Asterisk 600311 GRANZYME M; GZMM LYMPHOCYTE MET-ASE 1;; PROTEASE, SERINE, NATURAL KILLER CELL, MET-ASE
Asterisk 600312 NUDIX HYDROLASE 1; NUDT1 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 1;; NUDIX MOTIF 1;; MutT HOMOLOG 1; MTH1;; 8-OXO-7,8-DIHYDROGUANOSINE TRIPHOSPHATASE
Caret 600313 MOVED TO 600535
Asterisk 600314 SH2 DOMAIN-CONTAINING ADAPTOR PROTEIN B; SHB SHB ADAPTOR PROTEIN
Asterisk 600315 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 4; TNFRSF4 TAX-TRANSCRIPTIONALLY ACTIVATED GLYCOPROTEIN 1 RECEPTOR; TXGP1L;; OX40 ANTIGEN;; LYMPHOID ACTIVATION ANTIGEN ACT35; ACT35;; CD134
Number Sign 600316 DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3 NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3; NSRD3
Asterisk 600317 TROPOMYOSIN 4; TPM4
Percent 600318 DIABETES MELLITUS, INSULIN-DEPENDENT, 3; IDDM3 INSULIN-DEPENDENT DIABETES MELLITUS 3
Percent 600319 DIABETES MELLITUS, INSULIN-DEPENDENT, 4; IDDM4 INSULIN-DEPENDENT DIABETES MELLITUS 4
Number Sign 600320 DIABETES MELLITUS, INSULIN-DEPENDENT, 5; IDDM5 INSULIN-DEPENDENT DIABETES MELLITUS 5
Percent 600321 DIABETES MELLITUS, INSULIN-DEPENDENT, 7; IDDM7 INSULIN-DEPENDENT DIABETES MELLITUS 7
Asterisk 600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25 SNAP
Asterisk 600323 REGULATOR OF G PROTEIN SIGNALING 1; RGS1 IMMEDIATE-EARLY RESPONSE 1, B-CELL SPECIFIC; IER1;; 1R20;; BL34
Asterisk 600324 CHEMOKINE, CXC MOTIF, LIGAND 5; CXCL5 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 5; SCYB5;; NEUTROPHIL-ACTIVATING PEPTIDE ENA-78; ENA78;; LIPOPOLYSACCHARIDE-INDUCED CXC CHEMOKINE; LIX
Percent 600325 AMINOPTERIN SYNDROME SINE AMINOPTERIN; ASSA PSEUDOAMINOPTERIN SYNDROME
Asterisk 600326 DEAD/H BOX 6; DDX6 RNA HELICASE, 54-KD; p54;; HELICASE, RNA, NUCLEAR 2; HLR2;; ONCOGENE RCK
Asterisk 600327 SYNAPTOTAGMIN 3; SYT3
Asterisk 600328 MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 6; MLLT6 ALL1-FUSED GENE FROM CHROMOSOME 17; AF17
NULL 600329 OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY
Caret 600330 MOVED TO 102500
NULL 600331 PARC SYNDROME POIKILODERMA, ALOPECIA, RETROGNATHISM, AND CLEFT PALATE
Percent 600332 RIPPLING MUSCLE DISEASE 1; RMD1
NULL 600333 MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA
Number Sign 600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD TARDIVE TIBIAL MUSCULAR DYSTROPHY;; UDD MYOPATHY
NULL 600335 SUCCINIC ACIDEMIA
Asterisk 600336 SOLUTE CARRIER FAMILY 18 (VESICULAR ACETYLCHOLINE), MEMBER 3; SLC18A3 VESICULAR ACETYLCHOLINE TRANSPORTER; VACHT
Asterisk 600337 BRADYKININ RECEPTOR B1; BDKRB1 BRADYKININ RECEPTOR 1; BKR1;; B1R
Asterisk 600338 ARYLACETAMIDE DEACETYLASE; AADAC DAC
Asterisk 600339 HEPATOMA-DERIVED GROWTH FACTOR; HDGF
Asterisk 600340 PLASMA MEMBRANE PROTEOLIPID; PLLP PLASMOLIPIN; PMLP;; TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 11; TM4SF11
Asterisk 600341 TYRO3 PROTEIN TYROSINE KINASE; TYRO3 PROTEIN TYROSINE KINASE 3
Asterisk 600342 G PROTEIN-COUPLED RECEPTOR, RETINAL; RGR RPE-RETINAL G PROTEIN-COUPLED RECEPTOR
Percent 600343 PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF; PDDP
Caret 600344 MOVED TO 300058
Asterisk 600345 BETACELLULIN; BTC
Asterisk 600346 POLYCOMB GROUP RING FINGER PROTEIN 2; PCGF2 MEL18;; ZINC FINGER PROTEIN 144; ZNF144
Asterisk 600347 BREVICAN; BCAN BRAIN-ENRICHED HYALURONAN-BINDING; BEHAB; CHONDROITIN SULFATE PROTEOGLYCAN 7; CSPG7
Number Sign 600348 BAND HETEROTOPIA; BH
Asterisk 600349 INHIBITOR OF DNA BINDING 1; ID1 INHIBITOR OF DIFFERENTIATION 1
Caret 600350 MOVED TO 300034
NULL 600351 ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY
Caret 600352 MOVED TO 112205
Asterisk 600353 S100 CALCIUM-BINDING PROTEIN A7; S100A7 PSORIASIN; PSOR1
Asterisk 600354 SURVIVAL OF MOTOR NEURON 1; SMN1 SURVIVAL OF MOTOR NEURON, TELOMERIC COPY; SMNT;; SMN;; T-BCD541
Asterisk 600355 NEURONAL APOPTOSIS INHIBITORY PROTEIN; NAIP BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 1; BIRC1
NULL 600356 PACHYDERMODACTYLY, FAMILIAL
Asterisk 600357 RIBOSOMAL PROTEIN S8; RPS8
Asterisk 600358 GUANINE MONOPHOSPHATE SYNTHETASE; GMPS GMP SYNTHETASE GMPS/MLL FUSION GENE, INCLUDED
Asterisk 600359 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1 RENAL OUTER-MEDULLARY POTASSIUM CHANNEL; ROMK; ROMK1;; KIR1.1
Percent 600360 APLASIA CUTIS CONGENITA OF LIMBS, AUTOSOMAL RECESSIVE
Percent 600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V HMSN V;; HMSN5;; PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;; CHARCOT-MARIE-TOOTH DISEASE WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;; CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;; CMT WITH PYRAMIDAL FEATURES
Asterisk 600362 FLIGHTLESS I, DROSOPHILA, HOMOLOG OF; FLII FLI
Number Sign 600363 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 3; FSP3
Asterisk 600364 GUANYLATE CYCLASE ACTIVATOR 1A; GUCA1A GUANYLATE CYCLASE-ACTIVATING PROTEIN, PHOTORECEPTOR 1; GCAP1;; GUANYLIN 1, RETINA; GUCA1
Asterisk 600365 ACTIVE BCR-RELATED GENE; ABR
Asterisk 600366 ISL LIM HOMEOBOX 1; ISL1 ISL1 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN;; ISLET1
Asterisk 600367 CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 3, 77-KD; CSTF3 CSTF, 77-KD SUBUNIT; CSTF77
Caret 600368 MOVED TO 300907
Asterisk 600369 CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 1, 50-KD; CSTF1
Asterisk 600370 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 3; SLC25A3 PHOSPHATE CARRIER, MITOCHONDRIAL; PHC
Caret 600371 MOVED TO 142695
Asterisk 600372 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 1; NEDD1
Number Sign 600373 CODAS SYNDROME CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME
Asterisk 600374 BBS4 GENE; BBS4
Asterisk 600375 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; XRCC2
Number Sign 600376 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED, INCLUDED
Asterisk 600377 GALANIN RECEPTOR 1; GALR1 GALNR; GALNR1;; GALANIN RECEPTOR 1, BRAIN
Asterisk 600378 INNER MEMBRANE PROTEIN, MITOCHONDRIAL; IMMT MITOFILIN;; HEART MUSCLE PROTEIN; HMP;; MITOCHONDRIAL INNER MEMBRANE ORGANIZING SYSTEM PROTEIN 2; MINOS2;; MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 60-KD SUBUNIT; MIC60;; MICOS COMPLEX, 60-KD SUBUNIT
Asterisk 600379 MYELIN TRANSCRIPTION FACTOR 1; MYT1 PROTEOLIPID PROTEIN-BINDING PROTEIN; PLPB1
Asterisk 600380 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 2; NR1H2 UBIQUITOUSLY EXPRESSED NUCLEAR RECEPTOR; UNR;; NER;; LX RECEPTOR BETA; LXRB
Asterisk 600381 KINECTIN; KTN1 CG1 ANTIGEN; CG1
Asterisk 600382 MYC PROMOTER-BINDING PROTEIN IRLB
Number Sign 600383 MESOMELIA-SYNOSTOSES SYNDROME CHROMOSOME 8q13 DELETION SYNDROME;; MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFER TYPE;; MESOMELIC DYSPLASIA, SYNDROMIC
Percent 600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV
Asterisk 600385 ADENYLATE CYCLASE 7; ADCY7 ADENYLYL CYCLASE 7
Asterisk 600386 INHIBITOR OF DNA BINDING 2; ID2 INHIBITOR OF DIFFERENTIATION 2
Asterisk 600387 BONE MARROW STROMAL CELL ANTIGEN 1; BST1 CD157
Asterisk 600388 MEPRIN, ALPHA SUBUNIT; MEP1A
Asterisk 600389 MEPRIN, BETA SUBUNIT; MEP1B
Asterisk 600390 UPSTREAM TRANSCRIPTION FACTOR 2, FOS-INTERACTING; USF2 UPSTREAM STIMULATORY FACTOR 2;; FOS-INTERACTING PROTEIN; FIP
Asterisk 600391 GLUCOSAMINYL (N-ACETYL) TRANSFERASE 1, CORE 2; GCNT1 BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE 1
Asterisk 600392 RAD52, YEAST, HOMOLOG OF; RAD52
Asterisk 600393 FLAP STRUCTURE-SPECIFIC ENDONUCLEASE 1; FEN1 MATURATION FACTOR 1; MF1
Caret 600394 MOVED TO 300036
Asterisk 600395 GLYPICAN 1; GPC1
Asterisk 600396 DEAH BOX POLYPEPTIDE 8; DHX8 DEAD/H BOX 8; DDX8;; PRP22, S. CEREVISIAE, HOMOLOG OF;; RNA HELICASE 1; HRH1
Asterisk 600397 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 1; KCNB1 KV2.1
Asterisk 600398 ZINC FINGER PROTEIN 160; ZNF160
Percent 600399 PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS
Asterisk 600400 PROLYL ENDOPEPTIDASE; PREP PROLYL OLIGOPEPTIDASE
Caret 600401 MOVED TO 600247
Caret 600402 MOVED TO 300035
Asterisk 600403 FIBROBLAST ACTIVATION PROTEIN, ALPHA; FAP FAPA;; SEPRASE
Asterisk 600404 REPLICATION FACTOR C, SUBUNIT 2; RFC2 RFC, 40-KD SUBUNIT;; RFC4, YEAST, HOMOLOG OF
Asterisk 600405 REPLICATION FACTOR C, SUBUNIT 3; RFC3 RFC, 38-KD SUBUNIT;; RFC5, YEAST, HOMOLOG OF
Caret 600406 MOVED TO 102577
Asterisk 600407 REPLICATION FACTOR C, SUBUNIT 5; RFC5 RFC, 36.5-KD SUBUNIT;; RFC3, YEAST, HOMOLOG OF
Asterisk 600408 DISCOIDIN DOMAIN RECEPTOR FAMILY, MEMBER 1; DDR1 NEUROEPITHELIAL TYROSINE KINASE; NEP;; RECEPTOR TYROSINE KINASE NEP;; EPITHELIAL DISCOIDIN DOMAIN RECEPTOR 1; EDDR1;; EPITHELIAL-SPECIFIC RECEPTOR KINASE;; NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 4; NTRK4;; TYROSINE KINASE RECEPTOR E; TRKE;; PTK3, MOUSE, HOMOLOG OF;; DISCOIDIN DOMAIN RECEPTOR; DDR;; CELL ADHESION KINASE; CAK;; RECEPTOR TYROSINE KINASE 6; RTK6
Asterisk 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD NUCLEAR HORMONE RECEPTOR 1; NUC1;; NUCI GENE; NUCI;; PPAR-BETA; PPARB
Asterisk 600410 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 6; TNFAIP6 TUMOR NECROSIS FACTOR-STIMULATED GENE 6; TSG6
Asterisk 600411 GUANYLATE-BINDING PROTEIN 1, INTERFERON-INDUCIBLE, 67-KD; GBP1
Asterisk 600412 GUANYLATE-BINDING PROTEIN 2, INTERFERON-INDUCIBLE; GBP2 GUANYLATE-BINDING PROTEIN 1, MOUSE, HOMOLOG OF; GBP1
Asterisk 600413 GUANYLATE-BINDING PROTEIN 3; GBP3
Asterisk 600414 PEROXISOME BIOGENESIS FACTOR 5; PEX5 PEROXISOME RECEPTOR 1; PXR1;; PEROXIN 5;; PTS1 RECEPTOR; PTS1R
Asterisk 600415 TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA TTP1;; ALPHA-TOCOPHEROL TRANSFER PROTEIN; ATTP;; ALPHA-TTP
NULL 600416 MUSCULAR DYSTROPHY, SCAPULOHUMERAL
Asterisk 600417 5-PRIME-NUCLEOTIDASE, CYTOSOLIC II; NT5C2 NUCLEOTIDASE, 5-PRIME, CYTOSOLIC II;; NUCLEOTIDASE, 5-PRIME, TYPE B; NT5B;; PURINE 5-PRIME-NUCLEOTIDASE; PNT5
Asterisk 600418 AMPHIPHYSIN; AMPH AMPHIPHYSIN I
NULL 600419 ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS
Caret 600420 MOVED TO 300039
Asterisk 600421 GLYCINE RECEPTOR, ALPHA-3 SUBUNIT; GLRA3
Asterisk 600422 FATTY ACID-BINDING PROTEIN 6; FABP6 FATTY ACID-BINDING PROTEIN, ILEAL;; ILEAL LIPID-BINDING PROTEIN; ILLBP; ILBP;; GASTROTROPIN;; INTESTINAL BILE ACID-BINDING PROTEIN; IBABP
Asterisk 600423 ENDOTHELIN-CONVERTING ENZYME 1; ECE1 ECE
Asterisk 600424 SOLUTE CARRIER FAMILY 19 (FOLATE TRANSPORTER), MEMBER 1; SLC19A1 FOLATE TRANSPORTER; FOLT;; REDUCED FOLATE CARRIER 1; RFC1;; INTESTINAL FOLATE CARRIER 1; IFC1
Caret 600425 MOVED TO 189902
Asterisk 600426 E2F TRANSCRIPTION FACTOR 2; E2F2
Asterisk 600427 E2F TRANSCRIPTION FACTOR 3; E2F3
Asterisk 600428 VAV2 ONCOGENE; VAV2 ONCOGENE VAV2
Asterisk 600429 GLUCOSAMINYL (N-ACETYL) TRANSFERASE 2, I-BRANCHING ENZYME; GCNT2 BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE 2;; DEVELOPMENTAL I ANTIGEN;; I-BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE; IGNT
Number Sign 600430 CHROMOSOME 2q37 DELETION SYNDROME ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROME;; BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR
Asterisk 600431 CYCLIN-DEPENDENT KINASE INHIBITOR 2B; CDKN2B MULTIPLE TUMOR SUPPRESSOR 2;; MTS2;; p15(INK4B);; TP15;; CDK4B INHIBITOR
Asterisk 600432 PRECEREBELLIN 1; CBLN1 PRECEREBELLIN;; CEREBELLIN PRECURSOR CEREBELLIN, INCLUDED
Asterisk 600433 PRECEREBELLIN 2; CBLN2
Asterisk 600434 FATTY ACID-BINDING PROTEIN 4; FABP4 FATTY ACID-BINDING PROTEIN, ADIPOCYTE;; ADIPOCYTE PROTEIN AP2
Asterisk 600435 CARDIOTROPHIN 1; CTF1 CT1
Asterisk 600436 GLUTATHIONE S-TRANSFERASE, THETA-1; GSTT1
Asterisk 600437 GLUTATHIONE S-TRANSFERASE, THETA-2; GSTT2
Asterisk 600438 TRANSCRIPTION FACTOR A, MITOCHONDRIAL; TFAM TCF6;; TRANSCRIPTION FACTOR 6-LIKE 2; TCF6L2 TRANSCRIPTION FACTOR 6-LIKE 1, INCLUDED; TCF6L1, INCLUDED;; TRANSCRIPTION FACTOR 6-LIKE 3, INCLUDED; TCF6L3, INCLUDED;; MITOCHONDRIAL TRANSCRIPTION FACTOR 1, INCLUDED; MTTF1, INCLUDED
Asterisk 600439 SINGLE-STRANDED DNA-BINDING PROTEIN 1; SSBP1 SSBP;; SENSOR OF SINGLE-STRANDED DNA COMPLEX, SUBUNIT B1; SOSSB1;; SOSS COMPLEX, SUBUNIT B1
Asterisk 600440 ENDONUCLEASE G, MITOCHONDRIAL; ENDOG
Asterisk 600441 GROWTH ARREST-SPECIFIC 6; GAS6 AXL RECEPTOR TYROSINE KINASE LIGAND; AXLLG;; AXL STIMULATORY FACTOR; AXSF
Asterisk 600442 AQUAPORIN 5; AQP5
Asterisk 600443 GLUTAREDOXIN; GLRX GRX;; THIOLTRANSFERASE
Asterisk 600444 SOLUTE CARRIER FAMILY 5 (INOSITOL TRANSPORTER), MEMBER 3; SLC5A3 SODIUM/MYOINOSITOL COTRANSPORTER;; SMIT
Asterisk 600445 ADENOSINE A3 RECEPTOR; ADORA3 A3 ADENOSINE RECEPTOR; A3AR
Asterisk 600446 ADENOSINE A2B RECEPTOR; ADORA2B A2BR
Asterisk 600447 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 12; MAP3K12 ZIPPER PROTEIN KINASE; ZPK;; DUAL LEUCINE ZIPPER KINASE; DLK;; PROTEIN KINASE MUK
Asterisk 600448 PROTEIN KINASE C, THETA; PRKCQ
Asterisk 600449 ALDO-KETO REDUCTASE FAMILY 1, MEMBER 1; AKR1C1 DIHYDRODIOL DEHYDROGENASE, TYPE I; DDH1; DD1;; ALDO-KETO REDUCTASE C; HAKRC
Asterisk 600450 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C2; AKR1C2 DIHYDRODIOL DEHYDROGENASE, TYPE II; DDH2; DD2;; ALDO-KETO REDUCTASE D; HAKRD;; 3-ALPHA-HYDROXYSTEROID DEHYDROGENASE, TYPE III
Asterisk 600451 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C4; AKR1C4 CHLORDECONE REDUCTASE; CHDR; CDR;; ALDO-KETO REDUCTASE A; HAKRA;; DIHYDRODIOL DEHYDROGENASE 4; DD4;; 3-ALPHA-HYDROXYSTEROID DEHYDROGENASE, TYPE I
Caret 600452 MOVED TO 600408
Asterisk 600453 TRIPARTITE MOTIF-CONTAINING PROTEIN 25; TRIM25 ZINC FINGER PROTEIN 147; ZNF147;; ESTROGEN-RESPONSIVE FINGER PROTEIN; EFP
Asterisk 600454 RIBOSOMAL PROTEIN S3; RPS3
Asterisk 600455 RNA, U15A SMALL NUCLEOLAR; RNU15A snoRNA, U15A
Asterisk 600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2 TYROSINE KINASE RECEPTOR B; TRKB
NULL 600457 HYPERTRICHOSIS, ANTERIOR CERVICAL
NULL 600458 ADENOMYOSIS
NULL 600459 ARTERIAL DISSECTION WITH LENTIGINOSIS
NULL 600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY CCGE;; ACROCARDIOFACIAL SYNDROME; ACFS
NULL 600461 HEMOLYTIC ANEMIA, LETHAL CONGENITAL NONSPHEROCYTIC, WITH GENITAL AND OTHER ABNORMALITIES
Number Sign 600462 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1; MLASA1 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
Asterisk 600463 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A3; ALDH1A3 ALDEHYDE DEHYDROGENASE 6; ALDH6;; ACETALDEHYDE DEHYDROGENASE 6;; RETINALDEHYDE DEHYDROGENASE 3; RALDH3
Asterisk 600464 ADP-RIBOSYLATION FACTOR 6; ARF6
Asterisk 600465 ANKYRIN 3; ANK3 ANKYRIN-G
Asterisk 600466 ALDEHYDE DEHYDROGENASE 3 FAMILY, MEMBER B1; ALDH3B1 ALDEHYDE DEHYDROGENASE 7; ALDH7;; ACETALDEHYDE DEHYDROGENASE 7
Percent 600467 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4 MHS4
Caret 600468 MOVED TO 300011
Asterisk 600469 NUCLEAR CAP-BINDING PROTEIN 1; NCBP1 NUCLEAR CAP-BINDING PROTEIN, 80-KD;; NCBP;; CBP80
Asterisk 600470 ZIC FAMILY, MEMBER 1; ZIC1 ZINC FINGER PROTEIN OF CEREBELLUM 1;; ZIC
Asterisk 600471 DEFENSIN, ALPHA, 6; DEFA6 DEFENSIN 6; DEF6
Asterisk 600472 DEFENSIN, ALPHA, 5; DEFA5 DEFENSIN 5; DEF5
Asterisk 600473 PURINE-RICH ELEMENT-BINDING PROTEIN A; PURA PUR-ALPHA
Asterisk 600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP CATIONIC ANTIMICROBIAL PROTEIN, 18-KD; CAP18;; CRAMP, MOUSE, HOMOLOG OF; CRAMP LL37, INCLUDED;; PEPTIDE ANTIBIOTIC, PR-39, PORCINE, HOMOLOG OF, INCLUDED; FALL39, INCLUDED
Asterisk 600475 TAF10 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 30-KD; TAF10 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2H; TAF2H;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 30-KD; TAFII30;; TAF2A, FORMERLY
Caret 600476 MOVED TO 300040
Asterisk 600477 SOLUTE CARRIER FAMILY 9, MEMBER 5; SLC9A5 SODIUM/HYDROGEN EXCHANGER 5; NHE5
Asterisk 600478 SUPERKILLER VIRALICIDIC ACTIVITY 2, S. CEREVISIAE, HOMOLOG-LIKE; SKIV2L SKI2, S. CEREVISIAE, HOMOLOG OF; SKI2;; SKI2W
Caret 600479 MOVED TO 120324
Asterisk 600480 TRANSCRIPTION FACTOR 12; TCF12 HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 4; HTF4 TCF12/NR4A3 FUSION GENE, INCLUDED
Asterisk 600481 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 2; SREBF2 STEROL REGULATORY ELEMENT-BINDING PROTEIN 2; SREBP2
Caret 600482 MOVED TO 300116
Asterisk 600483 FIBROBLAST GROWTH FACTOR 8; FGF8 ANDROGEN-INDUCED GROWTH FACTOR; AIGF
Caret 600484 MOVED TO 300002
Caret 600485 MOVED TO 300003
Caret 600486 MOVED TO 300076
Asterisk 600487 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 4; PCSK4 PROPROTEIN CONVERTASE PC4
Asterisk 600488 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 5; PCSK5 PROPROTEIN CONVERTASE PC5
Asterisk 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 1; NFATC1 NFAT TRANSCRIPTION COMPLEX, CYTOSOLIC COMPONENT; NFATC;; NFAT2
Asterisk 600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 2; NFATC2 NFAT1;; NUCLEAR FACTOR OF ACTIVATED T CELLS, PREEXISTING COMPONENT; NFATP;; NFAT TRANSCRIPTION COMPLEX, PREEXISTING COMPONENT
Asterisk 600491 MICROFIBRILLAR-ASSOCIATED PROTEIN 3; MFAP3
Asterisk 600492 NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2 NFE2-RELATED FACTOR 2; NRF2;; NFE2-RELATED TRANSCRIPTION FACTOR 2
Asterisk 600493 ADHESION G PROTEIN-COUPLED RECEPTOR E1; ADGRE1 EGF-LIKE MODULE-CONTAINING, MUCIN-LIKE HORMONE RECEPTOR 1; EMR1
Asterisk 600494 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 2; POU3F2 POUF3;; BRN2, MOUSE, HOMOLOG OF; BRN2;; OCTAMER BINDING TRANSCRIPTION FACTOR 7; OCT7;; N-OCT-3 GENE
Asterisk 600495 EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 1; EIF4G1 EUKARYOTIC TRANSLATION INITIATION FACTOR 4G; EIF4G;; EIF4-GAMMA;; EIF4GI
Number Sign 600496 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3 MODY, TYPE 3
Asterisk 600497 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-2; PRKAA2 AMP-ACTIVATED PROTEIN KINASE, CATALYTIC, ALPHA-2;; AMPK-ALPHA-2
Caret 600498 MOVED TO 313470
Caret 600499 REMOVED FROM DATABASE
Caret 600500 MOVED TO 600758
Number Sign 600501 ABCD SYNDROME; ABCDS ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS
Asterisk 600502 IMMUNOGLOBULIN MU-BINDING PROTEIN 2; IGHMBP2 CARDIAC TRANSCRIPTION FACTOR 1; CATF1;; SMUBP2
Asterisk 600503 SUB1, S. CEREVISIAE, HOMOLOG OF; SUB1 ACTIVATED RNA POLYMERASE II TRANSCRIPTION COFACTOR 4; PC4;; p15
Asterisk 600504 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 4; KCNJ4 HIPPOCAMPAL INWARD RECTIFIER POTASSIUM CHANNEL; HIR; HRK1
Asterisk 600505 CASEIN KINASE I, ALPHA-1; CSNK1A1 CK1-ALPHA;; CK1
Caret 600506 MOVED TO 604286
Caret 600507 MOVED TO 601177
Asterisk 600508 NCK ADAPTOR PROTEIN 1; NCK1 NCK;; NCK-ALPHA;; MELANOMA NCK PROTEIN
Asterisk 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8 SULFONYLUREA RECEPTOR; SUR;; SUR1;; SULFONYLUREA RECEPTOR, BETA CELL HIGH AFFINITY
Percent 600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1 GLAUCOMA, PIGMENT-DISPERSION TYPE;; PIGMENT DISPERSION SYNDROME; PDS
Percent 600511 SCHIZOPHRENIA 3; SCZD3 SCHIZOPHRENIA 3 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6-RELATED
Number Sign 600512 EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE;; EPILEPSY, PARTIAL, WITH AUDITORY FEATURES; ADPEAF
Number Sign 600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1
Asterisk 600514 REELIN; RELN RL
Asterisk 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12 PURINORECEPTOR P2Y12; P2Y12;; PLATELET ADP RECEPTOR
Asterisk 600516 BCL2 ANTAGONIST KILLER 1; BAK1 BAK;; BCL2L7 BAK-LIKE, INCLUDED
Asterisk 600517 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 3; SERPINB3 SQUAMOUS CELL CARCINOMA ANTIGEN 1; SCCA1
Asterisk 600518 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 4; SERPINB4 SQUAMOUS CELL CARCINOMA ANTIGEN 2; SCCA2;; LEUPIN
Asterisk 600519 GENERAL TRANSCRIPTION FACTOR IIA, GAMMA SUBUNIT; GTF2A2 TRANSCRIPTION FACTOR IIA, 2; TF2A2
Asterisk 600520 GENERAL TRANSCRIPTION FACTOR IIA, ALPHA/BETA SUBUNITS; GTF2A1 TRANSCRIPTION FACTOR IIA, 1; TF2A1
Asterisk 600521 MANNAN-BINDING LECTIN SERINE PROTEASE 1; MASP1 MASP;; COMPLEMENT-ACTIVATING COMPONENT OF Ra-REACTIVE FACTOR; CRARF
Plus 600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A PHOSPHOLIPASE A2, CYTOSOLIC, CALCIUM-DEPENDENT, ALPHA;; CPLA2-ALPHA PHOSPHOLIPASE A2, GROUP IVA, DEFICIENCY OF, INCLUDED
Asterisk 600523 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER), MEMBER 2; SLC11A2 NATURAL RESISTANCE-ASSOCIATED MACROPHAGE PROTEIN 2; NRAMP2;; DIVALENT CATION TRANSPORTER 1; DCT1;; DIVALENT METAL TRANSPORTER 1; DMT1
Asterisk 600524 RYK RECEPTOR-LIKE TYROSINE KINASE; RYK RYK1
Asterisk 600525 DISTAL-LESS HOMEOBOX 3; DLX3
Asterisk 600526 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 2; MARK2 ELKL MOTIF KINASE; EMK1;; PAR1, C. ELEGANS, HOMOLOG OF, B; PAR1B
Asterisk 600527 EPHRIN B2; EFNB2 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 5; EPLG5;; LIGAND OF EPH-RELATED KINASE 5; LERK5;; HTK LIGAND; HTKL
Asterisk 600528 CARNITINE PALMITOYLTRANSFERASE I, LIVER; CPT1A CPT IA;; CPT I, LIVER;; CPT1
Asterisk 600529 AU-SPECIFIC RNA-BINDING PROTEIN; AUH 3-METHYLGLUTACONYL-CoA HYDRATASE
Asterisk 600530 SOLUTE CARRIER FAMILY 9, MEMBER 2; SLC9A2 SODIUM/HYDROGEN EXCHANGER 2; NHE2
Asterisk 600531 SOLUTE CARRIER FAMILY 9, MEMBER 4; SLC9A4 SODIUM/HYDROGEN EXCHANGER 4; NHE4
Asterisk 600532 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 2; NDUFV2 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 24-KD SUBUNIT
Asterisk 600533 VANG-LIKE 2; VANGL2 LOOP-TAIL-ASSOCIATED PROTEIN; LTAP;; LOOP-TAIL PROTEIN 1; LPP1;; VAN GOGH, DROSOPHILA, HOMOLOG OF, 2;; STRABISMUS, DROSOPHILA, HOMOLOG OF, 1; STBM1; STB1;; LOOP-TAIL, MOUSE, HOMOLOG OF;; KIAA1215
Asterisk 600534 BONE MARROW STROMAL CELL ANTIGEN 2; BST2 TETHERIN;; CD317 ANTIGEN; CD317
Asterisk 600535 MESENCHYME HOMEOBOX 2; MEOX2 MOX2 DIVERGED HOMEOBOX GENE;; MOX2, MOUSE, HOMOLOG OF;; GROWTH ARREST-SPECIFIC HOMEOBOX; GAX
Asterisk 600536 INTEGRIN, ALPHA-7; ITGA7
Asterisk 600537 RECQ PROTEIN-LIKE; RECQL DNA HELICASE, RECQ-LIKE, TYPE 1; RECQL1
Asterisk 600538 PEROXIREDOXIN 2; PRDX2 PRX2;; PEROXIDE REDUCTASE, THIOREDOXIN-DEPENDENT; TDPX1; TPX1;; NATURAL KILLER-ENHANCING FACTOR B; NKEFB
Asterisk 600539 PROTEIN KINASE C, IOTA FORM; PRKCI PROTEIN KINASE C, LAMBDA/IOTA;; PKC-LAMBDA/IOTA;; PRKC-LAMBDA/IOTA
Asterisk 600540 TRANSCRIPTION FACTOR Sp4; SP4 HF1B
Asterisk 600541 ETS VARIANT GENE 1; ETV1 ETS TRANSLOCATION VARIANT 1;; ER81, MOUSE, HOMOLOG OF ETV1/TMPRSS2 FUSION GENE, INCLUDED;; ETV1/EWS FUSION GENE, INCLUDED
Asterisk 600542 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3 CHONDROSARCOMA, MYXOID EXTRASKELETAL, FUSED TO EWS; CSMF;; CHN;; NEURON-DERIVED ORPHAN RECEPTOR 1; NOR1;; MITOGEN-INDUCED NUCLEAR ORPHAN RECEPTOR; MINOR NR4A3/EWS FUSION GENE, INCLUDED;; NR4A3/RBP56 FUSION GENE, INCLUDED;; NR4A3/TCF12 FUSION GENE, INCLUDED
Asterisk 600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4 ONCOGENE ERBB4;; TYROSINE KINASE-TYPE CELL SURFACE RECEPTOR HER4
Asterisk 600544 SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 1; SLC15A1 HYDROGEN ION/PEPTIDE COTRANSPORTER, INTESTINAL; HPEPT1
Caret 600545 MOVED TO 300240
NULL 600546 INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY
Asterisk 600547 CYSTEINE CONJUGATE BETA-LYASE 1; CCBL1 BETA-LYASE, KIDNEY;; KYNURENINE AMINOTRANSFERASE I; KAT1
Asterisk 600548 HEAT-SHOCK 70-KD PROTEIN 9; HSPA9 HSPA9B;; MORTALIN;; MORTALIN 2; MOT2;; MORTALIN, PERINUCLEAR;; GLUCOSE-REGULATED PROTEIN, 75-KD; GRP75
Asterisk 600549 IK CYTOKINE, DOWNREGULATOR OF HLA II; IK CYTOKINE IK;; IK FACTOR;; RED
Asterisk 600550 CATHEPSIN O; CTSO
Asterisk 600551 G PROTEIN-COUPLED RECEPTOR 4; GPR4
Asterisk 600552 CHEMOKINE, C MOTIF, RECEPTOR 1; XCR1 CCXCR1;; G PROTEIN-COUPLED RECEPTOR 5; GPR5;; XC CHEMOKINE RECEPTOR 1; XCR1;; LYMPHOTACTIN RECEPTOR
Asterisk 600553 G PROTEIN-COUPLED RECEPTOR 6; GPR6
Asterisk 600554 INTERLEUKIN 15; IL15
Asterisk 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1
Asterisk 600556 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 2; STAT2
Caret 600557 MOVED TO 102582
Asterisk 600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4
NULL 600559 HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS HEC SYNDROME
Asterisk 600560 SHC TRANSFORMING PROTEIN 1; SHC1 SHC PROTEIN A; SHCA p46, INCLUDED;; p52, INCLUDED;; p66, INCLUDED
NULL 600561 SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY
Asterisk 600562 CADHERIN 12; CDH12 N-CADHERIN 2;; CADHERIN, NEURONAL, 2;; BR-CADHERIN; CDHB
Asterisk 600563 PROSTAGLANDIN F RECEPTOR; PTGFR PROSTAGLANDIN RECEPTOR F(2-ALPHA)
Asterisk 600564 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 4; ITIH4 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN-LIKE, 1; ITIHL1;; INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN-RELATED PROTEIN; IHRP;; PLASMA KALLIKREIN-SENSITIVE GLYCOPROTEIN 120; PK120
Asterisk 600565 NEUREXIN I; NRXN1
Asterisk 600566 NEUREXIN II; NRXN2
Asterisk 600567 NEUREXIN III; NRXN3
Asterisk 600568 NEUROLIGIN 1; NLGN1 NL1
Caret 600569 MOVED TO 300103
Asterisk 600570 CHLORIDE CHANNEL 2; CLCN2 CLC2
Asterisk 600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST NEURON-RESTRICTIVE SILENCER FACTOR; NRSF
Asterisk 600572 SPLICING FACTOR, SERINE/ARGININE-RICH, 7; SRSF7 SERINE/ARGININE-RICH SPLICING FACTOR 7;; SPLICING FACTOR, ARGININE/SERINE-RICH, 7; SFRS7
Asterisk 600573 TAF7 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 55-KD; TAF7 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2F; TAF2F;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 55-KD; TAFII55
Asterisk 600574 LEUCINE ZIPPER-LIKE TRANSCRIPTIONAL REGULATOR 1; LZTR1
Asterisk 600575 TRANSLIN; TSN RECOMBINATION HOTSPOT-ASSOCIATED FACTOR 1; RCHF1;; TESTIS-BRAIN RNA-BINDING PROTEIN; TBRBP
Asterisk 600576 GATA-BINDING PROTEIN 4; GATA4
Asterisk 600577 LIM HOMEOBOX GENE 3; LHX3 LIM3
Asterisk 600578 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY H, MEMBER 3; OR2H3 OLFACTORY RECEPTOR 2; OLFR2
Asterisk 600579 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, O; PTPRO GLOMERULAR EPITHELIAL PROTEIN 1; GLEPP1;; PROTEIN TYROSINE PHOSPHATASE PTP-U2; PTPU2
Asterisk 600580 CHLORIDE CHANNEL 3; CLCN3 CLC3
Asterisk 600581 INHIBITOR OF DNA BINDING 4; ID4 IDB4
Asterisk 600582 ASPARTATE BETA-HYDROXYLASE; ASPH ASPARTYL/ASPARAGINYL-BETA-HYDROXYLASE; HAAH;; BAH JUNCTIN, INCLUDED;; JUNCTATE, INCLUDED;; HUMBUG, INCLUDED
Asterisk 600583 TEC PROTEIN TYROSINE KINASE; TEC
Asterisk 600584 NK2 HOMEOBOX 5; NKX2-5 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E;; CARDIAC-SPECIFIC HOMEOBOX 1; CSX1;; CSX;; NKX2.5, MOUSE, HOMOLOG OF
Asterisk 600585 TRANSGLUTAMINASE 4; TGM4 TRANSGLUTAMINASE P; TGP;; TRANSGLUTAMINASE, PROSTATE
Asterisk 600586 EPITHELIAL CELL TRANSFORMING SEQUENCE 2 ONCOGENE; ECT2 ONCOGENE ECT2
Asterisk 600587 POM121/ZP3 FUSION PROTEIN; POMZP3 POMZP3 FUSION PROTEIN
Caret 600588 MOVED TO 188025
Asterisk 600589 SERUM RESPONSE FACTOR; SRF C-FOS SERUM RESPONSE ELEMENT-BINDING FACTOR
Asterisk 600590 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, BETA ISOFORM; PPP1CB PROTEIN PHOSPHATASE 1-BETA;; PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, DELTA ISOFORM; PPP1CD;; PROTEIN PHOSPHATASE 1-DELTA
Asterisk 600591 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 1; SNAPC1 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, 43-KD SUBUNIT; SNAP43;; PSE-BINDING TRANSCRIPTION FACTOR, GAMMA;; PTF-GAMMA
Asterisk 600592 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 7; MCM7 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 7;; CDC47, S. CEREVISIAE, HOMOLOG OF; CDC47;; MCM2, FORMERLY
Percent 600593 CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA
Asterisk 600594 DIGEORGE SYNDROME CRITICAL REGION GENE 2; DGCR2 INTEGRAL MEMBRANE PROTEIN DELETED IN DIGEORGE SYNDROME; IDD
Asterisk 600595 INTRAFLAGELLAR TRANSPORT 88, CHLAMYDOMONAS, HOMOLOG OF; IFT88 TG737, MOUSE, HOMOLOG OF; TG737;; POLARIS, MOUSE, HOMOLOG OF;; TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 10; TTC10;; DAF19, C. ELEGANS, HOMOLOG OF; DAF19;; D13S1056E
Asterisk 600596 MICROFIBRILLAR-ASSOCIATED PROTEIN 4; MFAP4
Asterisk 600597 PHOSPHOLIPASE C-LIKE 1; PLCL1 PHOSPHOLIPASE C DELETED IN LUNG CARCINOMA; PLCL;; PHOSPHOLIPASE C-RELATED CATALYTICALLY INACTIVE PROTEIN 1; PRIP1
NULL 600598 SETTING-SUN PHENOMENON, FAMILIAL BENIGN
Asterisk 600599 KRUPPEL-LIKE FACTOR 1; KLF1 ERYTHROID KRUPPEL-LIKE FACTOR; EKLF
Asterisk 600600 EPHRIN RECEPTOR EphB1; EPHB1 NEURONALLY EXPRESSED EPH-RELATED TYROSINE KINASE; NET;; EPH TYROSINE KINASE 2; EPHT2;; HEK6;; ELK
Caret 600601 MOVED TO 600289
Caret 600602 MOVED TO 300083
Caret 600603 MOVED TO 300071
Caret 600604 MOVED TO 600376
Asterisk 600605 METAXIN 1; MTX1 MTX;; MTXN
Caret 600606 REMOVED FROM DATABASE
Asterisk 600607 VACUOLAR PROTEIN SORTING 72, YEAST, HOMOLOG OF; VPS72 TRANSCRIPTION FACTOR-LIKE 1; TCFL1;; TRANSFORMATION SUPPRESSOR GENE YL-1; YL1
Asterisk 600608 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT, ISOFORM 2; P4HA2 PROLYL 4-HYDROXYLASE, ALPHA-2 SUBUNIT
Asterisk 600609 GA-BINDING PROTEIN TRANSCRIPTION FACTOR, ALPHA SUBUNIT; GABPA GABP-ALPHA;; NUCLEAR RESPIRATORY FACTOR 2, ALPHA SUBUNIT; NRF2A;; ADENOVIRUS E4 GENE TRANSCRIPTION FACTOR, 60-KD SUBUNIT;; E4TF1-60
Asterisk 600610 GA-BINDING PROTEIN TRANSCRIPTION FACTOR, BETA SUBUNIT; GABPB GA-BINDING PROTEIN TRANSCRIPTION FACTOR, BETA SUBUNIT 1, INCLUDED; GABPB1, INCLUDED;; GABP-BETA, INCLUDED;; NUCLEAR RESPIRATORY FACTOR 2, BETA SUBUNIT 1, INCLUDED; NRF2B1, INCLUDED;; NUCLEAR RESPIRATORY FACTOR 2, BETA SUBUNIT 2, INCLUDED; NRF2B2, INCLUDED;; ADENOVIRUS E4 GENE TRANSCRIPTION FACTOR 1, 53-KD SUBUNIT, INCLUDED;; E4TF1-53, INCLUDED;; GA-BINDING PROTEIN TRANSCRIPTION FACTOR, BETA SUBUNIT 2, INCLUDED; GABPB2, INCLUDED;; GABP-GAMMA, INCLUDED;; NUCLEAR RESPIRATORY FACTOR 2, GAMMA SUBUNIT 1, INCLUDED; NRF2G1, INCLUDED;; NUCLEAR RESPIRATORY FACTOR 2, GAMMA SUBUNIT 2, INCLUDED; NRF2G2, INCLUDED;; ADENOVIRUS E4 GENE TRANSCRIPTION FACTOR 1, 47-KD SUBUNIT, INCLUDED;; E4TF1-47, INCLUDED
Asterisk 600611 FK506-BINDING PROTEIN 4; FKBP4 T-CELL FK506-BINDING PROTEIN, 59-KD; FKBP59; FKBP52
Caret 600612 MOVED TO 300101
Asterisk 600613 NEUROBLASTOMA CANDIDATE REGION, SUPPRESSION OF TUMORIGENICITY 1; NBL1 DIFFERENTIAL SCREENING-SELECTED GENE ABERRANT IN NEUROBLASTOMA; DAN;; D1S1733E;; N03
Asterisk 600614 S100 CALCIUM-BINDING PROTEIN P; S100P
Asterisk 600615 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 7; LGALS7 GALECTIN 7; GAL7
Asterisk 600616 LUMICAN; LUM LDC
Asterisk 600617 STEROIDOGENIC ACUTE REGULATORY PROTEIN; STAR START DOMAIN-CONTAINING PROTEIN 1; STARD1
Asterisk 600618 ETS VARIANT GENE 6; ETV6 TRANSLOCATION, ETS, LEUKEMIA; TEL;; TEL1 ONCOGENE ETV6/PDGFRB FUSION GENE, INCLUDED;; ETV6/MN1 FUSION GENE, INCLUDED;; ETV6/AML1 FUSION GENE, INCLUDED;; ETV6/ARNT FUSION GENE, INCLUDED;; ETV6/MDS2 FUSION GENE, INCLUDED;; ETV6/ABL2 FUSION GENE, INCLUDED;; ETV6/PER1 FUSION GENE, INCLUDED;; ETV6/NTRK3 FUSION GENE, INCLUDED;; ETV6/ACS2 FUSION GENE, INCLUDED;; ETV6/BTL FUSION GENE, INCLUDED;; ETV6/JAK2 FUSION GENE, INCLUDED;; ETV6/RUNX1 FUSION GENE, INCLUDED
Caret 600619 MOVED TO 300097
Asterisk 600620 FK506-BINDING PROTEIN 1B; FKBP1B FK506-BINDING PROTEIN 1-LIKE; FKBP1L;; FK506-BINDING PROTEIN, 12.6-KD; FKBP12.6;; CALSTABIN 2
Asterisk 600621 STATHMIN-LIKE 2; STMN2 SUPERIOR CERVICAL GANGLIA, NEURAL SPECIFIC, 10; SCGN10;; SUPERIOR CERVICAL GANGLION 10; SCG10;; NEURONAL GROWTH-ASSOCIATED PROTEIN SCG10
Caret 600622 MOVED TO 300069
Asterisk 600623 CD82 ANTIGEN; CD82 KANGAI 1; KAI1;; PROSTATE CANCER ANTIMETASTASIS GENE KAI1;; LEUKOCYTE SURFACE ANTIGEN R2; SAR2;; SUPPRESSOR OF TUMORIGENICITY 6; ST6;; R2 LEUKOCYTE ANTIGEN
Percent 600624 CONE-ROD DYSTROPHY 1; CORD1 CRD1
Number Sign 600625 OROFACIAL CLEFT 11; OFC11 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11 CLEFT LIP, CONGENITAL HEALED, INCLUDED;; CONGENITAL HEALED CLEFT LIP, INCLUDED; CHCL, INCLUDED
Asterisk 600626 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3 BINDING PROTEIN; LGALS3BP MAC2-BINDING PROTEIN; MAC2BP;; SERUM PROTEIN 90K; 90K;; L3 ANTIGEN
Number Sign 600627 HYPERTRYPTOPHANEMIA; HYPTRP HYPERTRYPTOPHANEMIA, FAMILIAL
NULL 600628 LOOSE ANAGEN HAIR SYNDROME
Asterisk 600629 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DO BETA; HLA-DOB HLA-DO HISTOCOMPATIBILITY TYPE, BETA CHAIN
Number Sign 600630 UV-SENSITIVE SYNDROME 1; UVSS1
Percent 600631 ENURESIS, NOCTURNAL, 1; ENUR1 BEDWETTING
Asterisk 600632 OPIOID-BINDING PROTEIN/CELL ADHESION MOLECULE-LIKE; OPCML OPIOID-BINDING CELL ADHESION MOLECULE;; OBCAM;; IGLON1
Asterisk 600633 TREFOIL FACTOR 3; TFF3 INTESTINAL TREFOIL FACTOR; ITF
Number Sign 600634 PITUITARY ADENOMA, PROLACTIN-SECRETING PROLACTINOMA, FAMILIAL
Asterisk 600635 NK2 HOMEOBOX 1; NKX2-1 THYROID TRANSCRIPTION FACTOR 1; TITF1;; TTF1;; THYROID NUCLEAR FACTOR;; NK2, DROSOPHILA, HOMOLOG OF, A; NKX2A;; NK2.1, MOUSE, HOMOLOG OF;; THYROID-SPECIFIC ENHANCER-BINDING PROTEIN; TEBP
Asterisk 600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3 PARP CLEAVAGE PROTEASE;; APOPAIN;; CPP32;; YAMA
Asterisk 600637 SOLUTE CARRIER FAMILY 1 (HIGH AFFINITY ASPARTATE/GLUTAMATE TRANSPORTER), MEMBER 6; SLC1A6 EXCITATORY AMINO ACID TRANSPORTER 4; EAAT4
Number Sign 600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A FEOM3 LOCUS
Asterisk 600639 CASPASE 2, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP2 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 2; NEDD2;; ICE AND CED3 HOMOLOG 1; ICH1
Caret 600640 MOVED TO 311770
Asterisk 600641 SULFOTRANSFERASE FAMILY 1A, CYTOSOLIC, PHENOL-PREFERRING, MEMBER 3; SULT1A3 SULFOTRANSFERASE, MONOAMINE-PREFERRING; STM
Asterisk 600642 MYOSIN IG; MYO1G MINOR HISTOCOMPATIBILITY ANTIGEN HA-2; HA2;; HLA-HA2;; D6S207E
NULL 600643 CAROLI DISEASE, ISOLATED
Asterisk 600644 NECTIN 1; NECTIN1 POLIOVIRUS RECEPTOR-LIKE 1; PVRL1;; HERPESVIRUS ENTRY MEDIATOR C; HVEC;; POLIOVIRUS RECEPTOR-RELATED 1; PVRR1;; PVRR; PRR
Caret 600645 MOVED TO 600579
Asterisk 600646 PROTEIN C RECEPTOR; PROCR ENDOTHELIAL PROTEIN C RECEPTOR; EPCR;; CELL CYCLE, CENTROSOME-ASSOCIATED PROTEIN; CCCA;; CCD41
Asterisk 600647 H6 FAMILY HOMEOBOX 2; HMX2 HOMEOBOX GENE H6-LIKE; H6L;; NKX5.2
Caret 600648 MOVED TO 113800
Number Sign 600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA;; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR;; CPT II DEFICIENCY, HEPATIC;; CPT2 DEFICIENCY, INFANTILE
Asterisk 600650 CARNITINE PALMITOYLTRANSFERASE II; CPT2 CPT II
Number Sign 600651 FRAGILE SITE 11B; FRA11B
Number Sign 600652 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A DEAFNESS, AUTOSOMAL DOMINANT 4; DFNA4
Caret 600653 MOVED TO 600381
Asterisk 600654 PROTEASOME ACTIVATOR SUBUNIT 1; PSME1 PROTEASOME ACTIVATOR 28-ALPHA;; PA28-ALPHA; PA28A;; INTERFERON-GAMMA-INDUCIBLE PROTEIN 5111; IFI5111;; MCP ACTIVATOR, 29-KD SUBUNIT
Asterisk 600655 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, BETA-2; EEF1B2 ELONGATION FACTOR 1, BETA-2A;; ELONGATION FACTOR 1, BETA; EF1B EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, BETA-1, PSEUDOGENE, INCLUDED; EEF1B1, INCLUDED; EEF1B2P1, INCLUDED;; EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, BETA-3, PSEUDOGENE, INCLUDED; EEF1B3, INCLUDED; EEF1B2P2, INCLUDED;; EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, BETA-4, PSEUDOGENE, INCLUDED; EEF1B4, INCLUDED; EEF1B2P3, INCLUDED
Caret 600656 MOVED TO 600655
Caret 600657 MOVED TO 300140
Asterisk 600658 PROTEIN PHOSPHATASE 5, CATALYTIC SUBUNIT; PPP5C PP5
Asterisk 600659 E2F TRANSCRIPTION FACTOR 4; E2F4
Asterisk 600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A
Asterisk 600661 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE B; MEF2B
Asterisk 600662 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE C; MEF2C
Asterisk 600663 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE D; MEF2D
Asterisk 600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE OF, ALPHA; IKBKA;; NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, KINASE OF, ALPHA; NFKBIKA;; I-KAPPA-B KINASE-ALPHA;; IKK-ALPHA; IKKA;; I-KAPPA-B KINASE 1; IKK1
Asterisk 600665 MELATONIN RECEPTOR 1A; MTNR1A MT1
Number Sign 600666 POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3 POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE III; APKD3
Asterisk 600667 FRIZZLED, DROSOPHILA, HOMOLOG OF, 2; FZD2
Percent 600668 CHONDROCALCINOSIS 1; CCAL1 CHONDROCALCINOSIS WITH EARLY-ONSET OSTEOARTHRITIS
Percent 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG IDIOPATHIC GENERALIZED EPILEPSY; IGE EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1, INCLUDED; EIG1, INCLUDED;; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 8, INCLUDED
NULL 600670 VARICELLA, SEVERE RECURRENT
Caret 600671 MOVED TO 600594
Caret 600672 MOVED TO 300025
Asterisk 600673 UPSTREAM BINDING TRANSCRIPTION FACTOR (RNA POLYMERASE I); UBTF UPSTREAM BINDING FACTOR; UBF
Percent 600674 MICROTIA-ANOTIA
Asterisk 600675 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; XRCC3 X-RAY REPAIR CROSS-COMPLEMENTING PROTEIN 3
Asterisk 600676 CATR TUMORIGENIC CONVERSION 1; CATR1
Caret 600677 MOVED TO 300192
Asterisk 600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6 G/T MISMATCH-BINDING PROTEIN; GTBP
NULL 600679 DERMOID CYSTS, FAMILIAL FRONTONASAL
Caret 600680 MOVED TO 256730
Asterisk 600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2 HHIRK1;; IRK1;; KIR2.1
Asterisk 600682 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 1; SLC16A1 MONOCARBOXYLATE TRANSPORTER 1; MCT1
Caret 600683 MOVED TO 109190
Asterisk 600684 T-LYMPHOCYTE SURFACE ANTIGEN LY-9; LY9 CD229;; SLAM FAMILY, MEMBER 3; SLAMF3
Asterisk 600685 KARYOPHERIN ALPHA-2; KPNA2 RECOMBINATION-ACTIVATING GENE COHORT 1; RCH1;; SRP1-ALPHA;; IMPORTIN ALPHA-1;; QIP2
Asterisk 600686 KARYOPHERIN ALPHA-1; KPNA1 SUPPRESSOR OF RNA POLYMERASE I MUTATION, S. CEREVISIAE, HOMOLOG OF; SRP1;; RECOMBINATION ACTIVATING GENE COHORT 2; RCH2;; IMPORTIN ALPHA-5
Asterisk 600687 T-CELL LYMPHOMA INVASION AND METASTASIS 1; TIAM1
Asterisk 600688 CARBOXYPEPTIDASE A2, PANCREATIC; CPA2 PROCARBOXYPEPTIDASE A2, PANCREATIC
Caret 600689 MOVED TO 300096
Asterisk 600690 T-CELL LEUKEMIA TRANSLOCATION-ASSOCIATED GENE; TCTA
Asterisk 600691 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 1; SLC27A1 LONG CHAIN FATTY ACID TRANSPORT PROTEIN; FATP;; FATTY ACID TRANSPORT PROTEIN 1; FATP1;; ACYL-CoA SYNTHETASE VERY LONG CHAIN FAMILY, MEMBER 4; ACSVL4
Asterisk 600692 TROPONIN T3, FAST SKELETAL; TNNT3
Asterisk 600693 POLYPYRIMIDINE TRACT-BINDING PROTEIN 1; PTBP1 PTB;; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE I;; HNRNPI
Asterisk 600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST GP130 TRANSDUCER CHAIN; GP130
Caret 600695 MOVED TO 601434
Asterisk 600696 ENOYL-CoA HYDRATASE 1, PEROXISOMAL; ECH1 DELTA-3,5-DELTA-2,4-DIENOYL CoA ISOMERASE
Asterisk 600697 RETINOBLASTOMA-BINDING PROTEIN 5; RBBP5 RETINOBLASTOMA-BINDING PROTEIN RBQ3;; RBQ3
Asterisk 600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2 HIGH MOBILITY GROUP PROTEIN I-C; HMGIC;; HIGH MOBILITY GROUP PROTEIN HMGIC BREAKPOINT ASSOCIATED WITH BENIGN LIPOMA; BABL;; LIPO HMGIC/LPP FUSION GENE, INCLUDED;; HMGIC/LHFP FUSION GENE, INCLUDED;; HMGIC/RAD51L1 FUSION GENE, INCLUDED;; HMGIC/HEI10 FUSION GENE, INCLUDED;; HMGIC/ALDH2 FUSION GENE, INCLUDED;; HMGIC/COX6C FUSION GENE, INCLUDED
Caret 600699 MOVED TO 400003
Asterisk 600700 LIM DOMAIN-CONTAINING PREFERRED TRANSLOCATION PARTNER IN LIPOMA; LPP LIPOMA-PREFERRED PARTNER LPP/MLL FUSION GENE, INCLUDED;; LPP/HMGIC FUSION GENE, INCLUDED
Asterisk 600701 HIGH MOBILITY GROUP AT-HOOK 1; HMGA1 HMGIY;; HIGH MOBILITY GROUP PROTEIN Ia; HMGA1A;; HIGH MOBILITY GROUP PROTEIN I HIGH MOBILITY GROUP PROTEIN Ib, INCLUDED; HMGA1B, INCLUDED;; HIGH MOBILITY GROUP PROTEIN Y, INCLUDED; HMGIY, INCLUDED;; HIGH MOBILITY GROUP PROTEIN Ic, INCLUDED; HMGA1C, INCLUDED
Asterisk 600702 SODIUM CHANNEL, VOLTAGE-GATED, TYPE VIII, ALPHA SUBUNIT; SCN8A NAV1.6
Asterisk 600703 RIBOSOMAL PROTEIN S1-LIKE; RPS1L
Caret 600704 MOVED TO 300047
NULL 600705 SATOYOSHI SYNDROME KOMURAGAERI DISEASE;; MUSCLE SPASMS, INTERMITTENT, WITH ALOPECIA, DIARRHEA, AND SKELETAL ABNORMALITIES
NULL 600706 PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA
Asterisk 600707 SIGNAL RECOGNITION PARTICLE, 9-KD; SRP9 Alu RNA BINDING PROTEIN, 9-KD SUBUNIT; ALURBP
Asterisk 600708 SIGNAL RECOGNITION PARTICLE, 14-KD; SRP14 Alu RNA-BINDING PROTEIN, 14-KD SUBUNIT; ALURBP
Asterisk 600709 ISOLEUCYL-tRNA SYNTHETASE; IARS ILRS;; ILERS
Caret 600710 MOVED TO 600564
Asterisk 600711 ETS VARIANT GENE 4; ETV4 ETS TRANSLOCATION VARIANT 4;; E1A ENHANCER BINDING PROTEIN; E1AF ETV4/EWS FUSION GENE, INCLUDED
Asterisk 600712 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN K; HNRNPK HNRPK
Asterisk 600713 11-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1 HSD11L
Asterisk 600714 DUAL-SPECIFICITY PHOSPHATASE 1; DUSP1 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 10; PTPN10;; CL100;; MAP KINASE PHOSPHATASE 1; MKP1
Asterisk 600715 THROMBOSPONDIN IV; THBS4
Asterisk 600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22 PEST-DOMAIN PHOSPHATASE; PEP;; LYMPHOID PHOSPHATASE; LYP;; PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE 8, FORMERLY; PTPN8, FORMERLY
Caret 600717 MOVED TO 120165
Caret 600718 MOVED TO 185535
Asterisk 600719 NITRIC OXIDE SYNTHASE 2B; NOS2B
Asterisk 600720 NITRIC OXIDE SYNTHASE 2C; NOS2C
Number Sign 600721 D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1 D2HGA
Asterisk 600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1 PALMITOYL-PROTEIN THIOESTERASE; PPT
Asterisk 600723 MEMBRANE PROTEIN, PALMITOYLATED 2; MPP2 DISCS LARGE A, DROSOPHILA, HOMOLOG OF;; DLG-A TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF;; DISCS LARGE, HOMOLOG 2, FORMERLY; DLG2, FORMERLY
Asterisk 600724 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1 CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 2; CNCG2;; CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 3-LIKE; CNCG3L;; GLUTAMIC ACID-RICH PROTEIN 1; GAR1; GARP;; RETINAL ROD cGMP-GATED CHANNEL, BETA SUBUNIT;; RETINAL ROD cGMP-GATED CHANNEL, GAMMA SUBUNIT
Asterisk 600725 SONIC HEDGEHOG; SHH
Asterisk 600726 INDIAN HEDGEHOG; IHH
Asterisk 600727 NUCLEAR FACTOR I/A; NFIA TRANSCRIPTION FACTOR NFIA;; KIAA1439
Asterisk 600728 NUCLEAR FACTOR I/B; NFIB TRANSCRIPTION FACTOR NFIB
Asterisk 600729 NUCLEAR FACTOR I/C; NFIC TRANSCRIPTION FACTOR NFIC;; CTF
Asterisk 600730 NEUROPEPTIDES B AND W RECEPTOR 1; NPBWR1 NPB AND NPW RECEPTOR 1;; G PROTEIN-COUPLED RECEPTOR 7; GPR7;; OPIOID-SOMATOSTATIN-LIKE RECEPTOR 7
Asterisk 600731 G PROTEIN-COUPLED RECEPTOR 8; GPR8 OPIOID-SOMATOSTATIN-LIKE RECEPTOR 8
Asterisk 600732 ADP-RIBOSYLATION FACTOR-LIKE 4D; ARL4D ADP-RIBOSYLATION FACTOR 4-LIKE; ARF4L
Asterisk 600733 PANCREAS/DUODENUM HOMEOBOX PROTEIN 1; PDX1 PANCREATIC AND DUODENAL HOMEOBOX 1;; INSULIN PROMOTER FACTOR 1; IPF1;; HOMEODOMAIN TRANSCRIPTION FACTOR IPF1;; SOMATOSTATIN TRANSCRIPTION FACTOR 1; STF1;; IDX1
Asterisk 600734 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 5; KCNJ5 CARDIAC INWARD RECTIFIER; CIR;; G PROTEIN-ACTIVATED INWARDLY RECTIFYING POTASSIUM CHANNEL 4; GIRK4;; INWARDLY RECTIFYING POTASSIUM CHANNEL KIR3.4;; KATP1
Asterisk 600735 INTERFERON-INDUCED PROTEIN 35; IFI35 INTERFERON-INDUCIBLE PROTEIN, 35-KD; IFP35
NULL 600736 VELOFACIOSKELETAL SYNDROME
Caret 600737 MOVED TO 605820
Asterisk 600738 SELECTIN P LIGAND; SELPLG P-SELECTIN GLYCOPROTEIN LIGAND;; PSGL1
Asterisk 600739 SHC-LIKE PROTEIN; SHCL1
Number Sign 600740 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3 FAMILIAL BENIGN HYPERCALCEMIA, TYPE III; FBH3;; HYPERCALCEMIA, FAMILIAL BENIGN, TYPE III;; HYPERCALCEMIA, FAMILIAL BENIGN, OKLAHOMA TYPE
Caret 600741 MOVED TO 176636
Asterisk 600742 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE III; TGFBR3 BETA-GLYCAN
Asterisk 600743 TRANSCRIPTION FACTOR AP4; TFAP4
Asterisk 600744 T-CELL TRANSCRIPTION FACTOR EB; TFEB TCFEB TFEB/ALPHA FUSION GENE, INCLUDED
Asterisk 600745 APOLIPOPROTEIN C-IV; APOC4
Asterisk 600746 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 1; CDX1
Asterisk 600747 T-BOX 2; TBX2
Asterisk 600748 TRANSMEMBRANE BAX INHIBITOR MOTIF-CONTAINING PROTEIN 6; TMBIM6 BAX INHIBITOR 1; BI1;; TESTIS-ENHANCED GENE TRANSCRIPT; TEGT
Asterisk 600749 CCAAT/ENHANCER-BINDING PROTEIN, EPSILON; CEBPE C/EBP-EPSILON;; CRP1
Asterisk 600750 PENTRAXIN II, NEURONAL; NPTX2 NP2;; NEURONAL ACTIVITY-REGULATED PENTRAXIN; NARP
Asterisk 600751 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 1; SIGLEC1 SIALOADHESIN; SN;; CD169
Asterisk 600752 G PROTEIN-COUPLED RECEPTOR 12; GPR12
Asterisk 600753 GOLGI APPARATUS PROTEIN 1; GLG1 GOLGI SIALOGLYCOPROTEIN MG-160;; E-SELECTIN LIGAND 1, MOUSE, HOMOLOG OF; ESL1
Asterisk 600754 MATRIX METALLOPROTEINASE 14; MMP14 MATRIX METALLOPROTEINASE 14, MEMBRANE-TYPE;; MEMBRANE-TYPE MATRIX METALLOPROTEINASE 1;; MT1-MMP
Asterisk 600755 SYNAPSIN II; SYN2
Asterisk 600756 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-PRIME; PPP2R4 PROTEIN PHOSPHATASE 2A, REGULATORY SUBUNIT B-PRIME;; PHOSPHOTYROSYL PHOSPHATASE ACTIVATOR; PTPA;; PR53
Percent 600757 OROFACIAL CLEFT 3; OFC3 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 3
Asterisk 600758 PROTEIN-TYROSINE KINASE, CYTOPLASMIC; PTK2 FOCAL ADHESION KINASE; FAK;; FOCAL ADHESION KINASE 1; FAK1
Asterisk 600759 PRESENILIN 2; PSEN2 PS2;; STM2
Asterisk 600760 SODIUM CHANNEL, NONVOLTAGE-GATED 1, BETA SUBUNIT; SCNN1B SODIUM CHANNEL, EPITHELIAL, BETA SUBUNIT; SCNEB
Asterisk 600761 SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT; SCNN1G SODIUM CHANNEL, EPITHELIAL, GAMMA SUBUNIT; SCNEG
Asterisk 600762 HUMAN PAPILLOMAVIRUS E5 CENTRAL SEQUENCE-LIKE 1; HPVC1 PAPILLOMAVIRUS E5-LIKE PROTEIN; PE5L
Asterisk 600763 TUMOR PROTEIN, TRANSLATIONALLY-CONTROLLED 1; TPT1 TRANSLATIONALLY CONTROLLED TUMOR PROTEIN; TCTP;; HISTAMINE-RELEASING FACTOR, IMMUNOGLOBULIN E-DEPENDENT; HRF
Asterisk 600764 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I-RELATED; MR1 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I-LIKE SEQUENCE; HLALS;; MHC-RELATED PROTEIN 1
Caret 600765 MOVED TO 600137
Caret 600766 MOVED TO 300104
Asterisk 600767 GDP-DISSOCIATION INHIBITOR 2; GDI2 RAB GDP-DISSOCIATION INHIBITOR, BETA; RABGDIB;; RAB GDI-BETA
Asterisk 600768 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 9; PTPN9
Asterisk 600769 TETRASPANIN 8; TSPAN8 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 3; TM4SF3;; TUMOR ASSOCIATED ANTIGEN CO-029
Asterisk 600770 MUCIN 5, SUBTYPE B, TRACHEOBRONCHIAL; MUC5B MUC5
Percent 600771 DWARFISM, FAMILIAL, WITH MUSCLE SPASMS
Asterisk 600772 TAF11 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 28-KD; TAF11 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2I;; TAF2I TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 28-KD; TAFII28
Asterisk 600773 TAF12 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 20-KD; TAF12 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2J; TAF2J;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 20-KD; TAFII20
Asterisk 600774 TAF13 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 18-KD; TAF13 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2K; TAF2K;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 18-KD; TAFII18
Number Sign 600775 CRANIOSYNOSTOSIS 4; CRS4
NULL 600776 FRYNS MICROPHTHALMIA SYNDROME MICROPHTHALMIA WITH FACIAL CLEFTING;; ANOPHTHALMIA-PLUS SYNDROME
Asterisk 600777 TRANSCRIPTION TERMINATION FACTOR, RNA POLYMERASE I; TTF1
Asterisk 600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B p27(KIP1);; KIP1
Caret 600779 MOVED TO 164874
Caret 600780 MOVED TO 241410
Asterisk 600781 PEPTIDE YY; PYY
Asterisk 600782 SYNAPTOTAGMIN 5; SYT5
Asterisk 600783 HISTIDYL-tRNA SYNTHETASE 2; HARS2 HISTIDYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL HISRS;; HISTIDYL-tRNA SYNTHETASE-LIKE; HARSL;; HARS-RELATED GENE; HARSR;; HO3
Asterisk 600784 GRANZYME K; GZMK TRYPTASE II; TRYP2;; GRANZYME 3
Percent 600785 VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR; VDDR2B
Asterisk 600786 ELONGIN A; ELOA TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 3; TCEB3;; TCEB3A;; ELONGIN A1;; ELONGIN, 110-KD SUBUNIT
Asterisk 600787 ELONGIN B; ELOB TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 2; TCEB2;; ELONGIN, 18-KD SUBUNIT
Asterisk 600788 ELONGIN C; ELOC TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 1; TCEB1;; ELONGIN, 15-KD SUBUNIT
Asterisk 600789 RIBOSOMAL PROTEIN L23-LIKE; RPL23L L23 MITOCHONDRIAL-RELATED PROTEIN; L23MRP; MRPL23
Percent 600790 CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL CRAPB;; PROGRESSIVE BIFOCAL CHORIORETINAL ATROPHY; PBCRA
Number Sign 600791 DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4 NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; NSRD4;; DILATED VESTIBULAR AQUEDUCT; DVA
Percent 600792 DEAFNESS, AUTOSOMAL RECESSIVE 5; DFNB5 NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 5; NSRD5
Caret 600793 MOVED TO 300081
Number Sign 600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; HMN5A HMN VA;; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; DHMN5A;; DHMN VA;; SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VA; DSMAVA;; SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV;; SPINAL MUSCULAR ATROPHY, DISTAL, WITH UPPER LIMB PREDOMINANCE
Number Sign 600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3 DMT1; DEM;; DEMENTIA, FAMILIAL NONSPECIFIC
Asterisk 600796 SPLICING FACTOR 3A, SUBUNIT 2; SF3A2 SF3A, 66-KD SUBUNIT; SF3A66;; SPLICEOSOME-ASSOCIATED PROTEIN, 62-KD; SAP62
Asterisk 600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2
Asterisk 600798 NECTIN 2; NECTIN2 POLIOVIRUS RECEPTOR-LIKE 2; PVRL2;; HERPESVIRUS ENTRY MEDIATOR B; HVEB;; POLIOVIRUS RECEPTOR-RELATED 2; PVRR2; PRR2;; CD112 ANTIGEN; CD112;; NECTIN 2
Asterisk 600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2
Asterisk 600800 NGFIA-BINDING PROTEIN; NAB1 EGR1-BINDING PROTEIN 1
NULL 600801 ISOPROTERENOL-MEDIATED VASODILATATION
Number Sign 600802 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
Number Sign 600803 GALLBLADDER DISEASE 1; GBD1 CHOLELITHIASIS, LOW PHOSPHOLIPID-ASSOCIATED; LPAC
Asterisk 600804 MELATONIN RECEPTOR 1B; MTNR1B MEL1B;; MT2
Asterisk 600805 LAMININ, ALPHA-3; LAMA3 LAMININ A3;; LAMININ 5, ALPHA-3 SUBUNIT;; LAM5, ALPHA-3 SUBUNIT;; EPILIGRIN, 170-KD SUBUNIT;; BM600
Asterisk 600806 CALPONIN 1; CNN1 CALPONIN, BASIC, SMOOTH MUSCLE;; CALPONIN H1, MOUSE, HOMOLOG OF;; SMOOTH MUSCLE-CELL CALPONIN; SMCC
Number Sign 600807 ASTHMA, SUSCEPTIBILITY TO ASTHMA, BRONCHIAL;; ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO ASTHMA, PROTECTION AGAINST, INCLUDED;; ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN, INCLUDED
Percent 600808 ENURESIS, NOCTURNAL, 2; ENUR2
Caret 600809 MOVED TO 132890
Asterisk 600810 PHOSPHOLIPASE C, BETA-4; PLCB4 PLC-BETA-4
Asterisk 600811 DNA DAMAGE-BINDING PROTEIN 2; DDB2 DDB, p48 SUBUNIT
Asterisk 600812 SPLICING FACTOR, SERINE/ARGININE-RICH, 1; SRSF1 SERINE/ARGININE-RICH SPLICING FACTOR 1;; SPLICING FACTOR, ARGININE/SERINE-RICH, 1; SFRS1;; ALTERNATIVE SPLICING FACTOR; ASF;; SPLICING FACTOR 2; SF2;; SPLICING FACTOR, ARGININE/SERINE-RICH, 30-KD, A; SRp30a
Asterisk 600813 SPLICING FACTOR, SERINE/ARGININE-RICH, 2; SRSF2 SERINE/ARGININE-RICH SPLICING FACTOR 2;; SPLICING FACTOR SC35; SC35;; SPLICING FACTOR, ARGININE/SERINE-RICH, 30-KD, B; SRp30b;; SPLICING FACTOR, ARGININE/SERINE-RICH, 2; SFRS2
Asterisk 600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A MRE11
Asterisk 600815 POLYMERASE (DNA-DIRECTED), DELTA 2, REGULATORY SUBUNIT; POLD2 DNA POLYMERASE, DELTA 2, SMALL SUBUNIT
Asterisk 600816 HEAT-SHOCK 70-KD PROTEIN 8; HSPA8 HEAT-SHOCK COGNATE PROTEIN, 71-KD; HSC71;; HSP73;; HSC70;; HEAT-SHOCK 70-KD PROTEIN 10, FORMERLY; HSPA10, FORMERLY;; LIPOPOLYSACCHARIDE-ASSOCIATED PROTEIN 1; LAP1;; LPS-ASSOCIATED PROTEIN 1
Asterisk 600817 VISININ-LIKE 1; VSNL1 VILIP;; VILIP1
Asterisk 600818 TRANSGELIN; TAGLN SM22-ALPHA; SM22
Asterisk 600819 FMR1 AUTOSOMAL HOMOLOG 1; FXR1 FRAGILE X-RELATED PROTEIN 1; FXR1P;; FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 1
Asterisk 600820 ARCHAIN 1; ARCN1 COATOMER PROTEIN COMPLEX, SUBUNIT DELTA; COPD;; COP, DELTA
Asterisk 600821 ARGININE VASOPRESSIN RECEPTOR 1A; AVPR1A
Asterisk 600822 TAF9 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 32-KD; TAF9 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2G; TAF2G;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 32-KD; TAFII32;; TAFII31
Asterisk 600823 PROTEASE, SERINE, 8; PRSS8 PROSTASIN
Asterisk 600824 CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3 CYSTEINE-RICH PROTEIN 3; CRP3;; LIM DOMAIN PROTEIN, CARDIAC;; CLP LIM DOMAIN PROTEIN, MUSCLE; MLP
Asterisk 600825 RAR-RELATED ORPHAN RECEPTOR A; RORA RAR-RELATED ORPHAN RECEPTOR ALPHA;; RZR-ALPHA; RZRA;; RETINOIC ACID-BINDING RECEPTOR ALPHA
Asterisk 600826 CHONDROITIN SULFATE PROTEOGLYCAN 3; CSPG3 NEUROCAN; NCAN
Asterisk 600827 PHOSPHODIESTERASE 6C, cGMP-SPECIFIC, CONE, ALPHA-PRIME; PDE6C PDEA2
Asterisk 600828 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, O SUBUNIT; ATP5O MITOCHONDRIAL ATP SYNTHASE, O SUBUNIT;; OLIGOMYCIN SENSITIVITY-CONFERRING PROTEIN; OSCP
Asterisk 600829 INOSITOL POLYPHOSPHATE PHOSPHATASE-LIKE 1; INPPL1 SH2-CONTAINING INOSITOL PHOSPHATASE 2; SHIP2
Asterisk 600830 TRIPARTITE MOTIF-CONTAINING PROTEIN 26; TRIM26 ACID FINGER PROTEIN; AFP;; ZINC FINGER PROTEIN 173, FORMERLY; ZNF173, FORMERLY
Asterisk 600831 DEATH-ASSOCIATED PROTEIN KINASE 1; DAPK1 DAPK
Asterisk 600832 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER A; ANP32A PUTATIVE HUMAN HLA CLASS II-ASSOCIATED PROTEIN; PHAP1;; PHAP I;; LEUCINE-RICH ACIDIC NUCLEAR PROTEIN; LANP
Asterisk 600833 SUPPRESSOR OF TUMORIGENICITY 7; ST7 TSG7;; RAY1;; FAM4A1
Asterisk 600834 ZINC FINGER PROTEIN 165; ZNF165 LD65
Asterisk 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12 STROMAL CELL-DERIVED FACTOR 1; SDF1;; PRE-B CELL GROWTH-STIMULATING FACTOR; PBSF
Asterisk 600836 CRYSTALLIN, BETA-A2; CRYBA2
Asterisk 600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF
Asterisk 600838 FORKHEAD BOX N1; FOXN1 WINGED HELIX NUDE; WHN
Asterisk 600839 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 1; SLC12A1 SODIUM-POTASSIUM-CHLORIDE TRANSPORTER 2; NKCC2
Asterisk 600840 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 2; SLC12A2 SODIUM-POTASSIUM-CHLORIDE TRANSPORTER 1; NKCC1;; NA-K-CL COTRANSPORTER, BUMETANIDE-SENSITIVE; BSC
NULL 600841 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-1-LIKE 14; EEF1A1L14 PROSTATIC CARCINOMA TUMOR-INDUCING GENE 1; PTI1
Asterisk 600842 GLUCOKINASE REGULATORY PROTEIN; GCKR GKRP
Asterisk 600843 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 3; P2RX3 PURINOCEPTOR P2X3; P2X3;; P2X RECEPTOR, SUBUNIT 3
Asterisk 600844 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 2; P2RX2 P2X RECEPTOR, SUBUNIT 2; P2X2
Asterisk 600845 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1; P2RX1 PURINOCEPTOR P2X1; P2X1;; P2X RECEPTOR, SUBUNIT 1
Asterisk 600846 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 4; P2RX4 PURINOCEPTOR P2X4; P2X4; P2X4R;; P2X RECEPTOR, SUBUNIT 4
Caret 600847 MOVED TO 600695
Asterisk 600848 NUCLEAR RECEPTOR COREPRESSOR 2; NCOR2 SILENCING MEDIATOR FOR RETINOID AND THYROID HORMONE RECEPTORS; SMRT
Asterisk 600849 NUCLEAR RECEPTOR COREPRESSOR 1; NCOR1
Number Sign 600850 SCHIZOPHRENIA 4; SCZD4 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q11-RELATED
NULL 600851 MITOCHONDRIAL IMPORT-STIMULATING FACTOR MSF
Number Sign 600852 RETINITIS PIGMENTOSA 17; RP17
Asterisk 600853 N-DEACETYLASE/N-SULFOTRANSFERASE 1; NDST1 HEPARAN GLUCOSAMINYL N-DEACETYLASE/N-SULFOTRANSFERASE 1;; HEPARAN SULFATE N-DEACETYLASE/N-SULFOTRANSFERASE; HSST
Caret 600854 MOVED TO 600877
Asterisk 600855 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1A DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1; DYRK1;; DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE; DYRK;; MNB PROTEIN KINASE, SERINE/THREONINE-SPECIFIC;; MINIBRAIN, DROSOPHILA, HOMOLOG OF; MNB; MNBH
Asterisk 600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C p57(KIP2);; KIP2
Asterisk 600857 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN; SDHA SUCCINATE DEHYDROGENASE 1, S. CEREVISIAE, HOMOLOG OF;; SDH1, HOMOLOG OF
Number Sign 600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6
Asterisk 600859 AMINOACYL tRNA SYNTHETASE COMPLEX-INTERACTING MULTIFUNCTIONAL PROTEIN 2; AIMP2 JTV1 GENE;; tRNA SYNTHETASE COFACTOR p38; p38
Asterisk 600860 GENERAL TRANSCRIPTION FACTOR IIIA; GTF3A TFIIIA
Asterisk 600861 REGULATOR OF G PROTEIN SIGNALING 2; RGS2 BASIC HELIX-LOOP-HELIX PHOSPHOPROTEIN G0S8
Asterisk 600862 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN WITH FG REPEATS 1; AGFG1 ARFGAP WITH FG REPEATS 1;; HIV-1 REV-BINDING PROTEIN; HRB;; REV-INTERACTING PROTEIN; RIP;; REV/REX ACTIVATION DOMAIN-BINDING PROTEIN; RAB
Asterisk 600863 CASEIN KINASE I, EPSILON; CSNK1E DOUBLETIME, DROSOPHILA, HOMOLOG OF; DBT
Asterisk 600864 CASEIN KINASE I, DELTA; CSNK1D
Asterisk 600865 RETICULON 1; RTN1 NEUROENDOCRINE-SPECIFIC PROTEIN; NSP
Asterisk 600866 PROGRAMMED CELL DEATH 2; PDCD2 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 7; ZMYND7
Asterisk 600867 SIGNAL SEQUENCE RECEPTOR, BETA; SSR2 TRANSLOCON-ASSOCIATED PROTEIN, BETA;; TRAP-BETA
Asterisk 600868 SIGNAL SEQUENCE RECEPTOR, ALPHA; SSR1 TRANSLOCON-ASSOCIATED PROTEIN, ALPHA SUBUNIT;; TRAP-ALPHA; TRAPA
Asterisk 600869 G PROTEIN-COUPLED RECEPTOR KINASE 6; GRK6 GPRK6
Asterisk 600870 G PROTEIN-COUPLED RECEPTOR KINASE 5; GRK5 GPRK5
Asterisk 600871 GROWTH FACTOR-INDEPENDENT 1; GFI1 ZNF163
Caret 600872 MOVED TO 300113
Asterisk 600873 CHITOBIASE, DI-N-ACETYL-; CTBS CHITOBIASE, LYSOSOMAL; CTB
Asterisk 600874 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-5; GNG5 G PROTEIN GAMMA-5 SUBUNIT
Asterisk 600875 ACYLPHOSPHATASE, ERYTHROCYTE; ACYP1 ACYPE
Asterisk 600876 SYNTAXIN 3; STX3 STX3A
Asterisk 600877 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 6; KCNJ6 GIRK2;; POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 7, FORMERLY; KCNJ7, FORMERLY
Caret 600878 MOVED TO 601296
Asterisk 600879 NUCLEAR RESPIRATORY FACTOR 1; NRF1 ALPHA-PAL
Number Sign 600880 BUDD-CHIARI SYNDROME; BDCHS MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED; MOVC, INCLUDED
Number Sign 600881 CATARACT 10, MULTIPLE TYPES; CTRCT10 CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS
Number Sign 600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2B;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B;; HEREDITARY MOTOR AND SENSORY NEUROPATHY IIB; HMSN IIB;; HMSN2B
Percent 600883 DIABETES MELLITUS, INSULIN-DEPENDENT, 8; IDDM8 INSULIN-DEPENDENT DIABETES MELLITUS 8
Percent 600884 CARDIOMYOPATHY, DILATED, 1B; CMD1B CARDIOMYOPATHY, FAMILIAL DILATED, 1; CMPD1;; CARDIOMYOPATHY, FAMILIAL DILATED; FDC
Caret 600885 MOVED TO 251260
Number Sign 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC HYPERFERRITINEMIA-CATARACT SYNDROME;; HYPERFERRITINEMIA, HEREDITARY, WITH CONGENITAL CATARACTS; HHCS
Asterisk 600887 MutS, E. COLI, HOMOLOG OF, 3; MSH3 MISMATCH REPAIR PROTEIN 1; MRP1;; DIVERGENT UPSTREAM PROTEIN; DUP
Asterisk 600888 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 5; ARHGEF5 TRANSFORMING IMMORTALIZED MAMMARY; TIM;; ONCOGENE TIM
Asterisk 600889 COMPLEMENT FACTOR H-RELATED 2; CFHR2 FACTOR H-RELATED GENE 2; FHR2;; H FACTOR-LIKE 3; HFL3;; CFHL2
Asterisk 600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT;; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT; MTPA;; LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE; LCHAD;; ECHA
Caret 600891 MOVED TO 300098
Asterisk 600892 SINGLE-MINDED, DROSOPHILA, HOMOLOG OF, 2; SIM2 SIM
Caret 600893 MOVED TO 300099
Caret 600894 MOVED TO 300574
Asterisk 600895 PROLACTIN-RELEASING HORMONE RECEPTOR; PRLHR PRLH RECEPTOR;; PROLACTIN-RELEASING PEPTIDE RECEPTOR; PRRPR;; G PROTEIN-COUPLED RECEPTOR 10; GPR10;; GR3
Asterisk 600896 G PROTEIN-COUPLED RECEPTOR 14; GPR14 UROTENSIN RECEPTOR; UTR;; UROTENSIN II RECEPTOR; UTR2
Asterisk 600897 GAP JUNCTION PROTEIN, ALPHA-8; GJA8 GAP JUNCTION PROTEIN, 50-KD;; CONNEXIN 50; CX50;; LENS INTRINSIC MEMBRANE PROTEIN MP70; MP70
Asterisk 600898 SRY-BOX 11; SOX11 SRY-RELATED HMG-BOX GENE 11
Asterisk 600899 PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC DNA-DEPENDENT PROTEIN KINASE, CATALYTIC SUBUNIT; DNPK1;; p350;; DNA-PKcs;; DNA-DEPENDENT PROTEIN KINASE; DNAPK;; HYPERRADIOSENSITIVITY COMPLEMENTING 1, MOUSE, HOMOLOG OF; HYRC1
Asterisk 600900 SARCOGLYCAN, BETA; SGCB DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 43-KD
Number Sign 600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE FACE
Asterisk 600902 SELENOPHOSPHATE SYNTHETASE 1; SEPHS1 SPS1
NULL 600903 WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM
Asterisk 600904 ASTROTACTIN 1; ASTN1 ASTROTACTIN; ASTN
Caret 600905 MOVED TO 600600
NULL 600906 ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY
NULL 600907 ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS
NULL 600908 KENNERKNECHT SYNDROME AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS
Asterisk 600909 LANOSTEROL SYNTHASE; LSS 2,3-OXIDOSQUALENE-LANOSTEROL CYCLASE; OSC
Asterisk 600910 INSULIN-LIKE 4; INSL4 EARLY PLACENTA INSULIN-LIKE PEPTIDE; EPIL;; PLACENTIN
Asterisk 600911 METALLOPHOSPHOESTERASE DOMAIN-CONTAINING PROTEIN 2; MPPED2 CHROMOSOME 11 OPEN READING FRAME 8; C11ORF8;; FETAL BRAIN PROTEIN 239;; D11S302E
Asterisk 600912 TRANSCRIPTION FACTOR 19; TCF19 SC1
Caret 600913 MOVED TO 602055
Asterisk 600914 SPLICING FACTOR, SERINE/ARGININE-RICH, 5; SRSF5 SERINE/ARGININE-RICH SPLICING FACTOR 5;; SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5;; SPLICING FACTOR, ARGININE/SERINE-RICH, 40-KD; SRp40
Asterisk 600915 NESTIN; NES
Asterisk 600916 INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE I, 107-KD; INPP4A INPP4
Asterisk 600917 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A; PPP1R3A PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3; PPP1R3;; PROTEIN PHOSPHATASE 1, GLYCOGEN-ASSOCIATED REGULATORY SUBUNIT; PP1G;; PROTEIN PHOSPHATASE 1, GLYCOGEN-TARGETING SUBUNIT, MUSCLE; GM
Caret 600918 MOVED TO 220100
Number Sign 600919 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED ANKYRIN-B SYNDROME LONG QT SYNDROME 4, INCLUDED; LQT4, INCLUDED
Number Sign 600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS MARDEN-WALKER-LIKE SYNDROME WITHOUT PSYCHOMOTOR RETARDATION;; BLEPHAROPHIMOSIS, ARACHNODACTYLY, AND CONGENITAL CONTRACTURES
Asterisk 600921 FIBROBLAST GROWTH FACTOR 9; FGF9 GLIA-ACTIVATING FACTOR; GAF
Asterisk 600922 MYOSIN LIGHT CHAIN KINASE; MYLK MYOSIN LIGHT POLYPEPTIDE KINASE; MLCK KINASE-RELATED PROTEIN, INCLUDED; KRP, INCLUDED;; TELOKIN, INCLUDED
Asterisk 600923 PROTOPORPHYRINOGEN OXIDASE; PPOX
Asterisk 600924 GROWTH FACTOR, ERV1-LIKE; GFER ERV1, S. CEREVISIAE, HOMOLOG OF; HERV1;; AUGMENTER OF LIVER REGENERATION; ALR
Asterisk 600925 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, J; PTPRJ DEP1;; PROTEIN-TYROSINE PHOSPHATASE, ETA;; SUSCEPTIBILITY TO COLON CANCER 1, MOUSE, HOMOLOG OF; SCC1;; CD148
Asterisk 600926 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, EPSILON; PTPRE
Asterisk 600927 CYCLIN-DEPENDENT KINASE INHIBITOR 2D; CDKN2D p19(INK4D)
Asterisk 600928 NITROGEN PERMEASE REGULATOR-LIKE 3; NPRL3 CHROMOSOME 16 OPEN READING FRAME 35; C16ORF35;; CONSERVED GENE TELOMERIC TO ALPHA GLOBIN CLUSTER
Asterisk 600929 CRYSTALLIN, BETA-B1; CRYBB1
Asterisk 600930 SPERM ADHESION MOLECULE 1; SPAM1 PH20
NULL 600931 PROTOCADHERIN 3 PCDH3
Asterisk 600932 POTASSIUM INWARDLY-RECTIFYING CHANNEL, SUBFAMILY J, MEMBER 9; KCNJ9 G PROTEIN-COUPLED INWARD RECTIFIER POTASSIUM CHANNEL; GIRK3
Asterisk 600933 COAGULATION FACTOR II RECEPTOR-LIKE 1; F2RL1 G PROTEIN-COUPLED RECEPTOR 11; GPR11;; PROTEINASE-ACTIVATED RECEPTOR 2; PAR2;; PROTEASE-ACTIVATED RECEPTOR 2
Asterisk 600934 FOLATE HYDROLASE 1; FOLH1 FOLH;; GLUTAMATE CARBOXYPEPTIDASE II; GCP2;; PROSTATE-SPECIFIC MEMBRANE ANTIGEN; PSM; PSMA;; N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE 1; NAALAD1;; NAALADase I
Asterisk 600935 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8 INWARDLY RECTIFYING POTASSIUM CHANNEL Kir6.1
Asterisk 600936 HYALURONAN-MEDIATED MOTILITY RECEPTOR; HMMR RHAMM
Asterisk 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11 POTASSIUM CHANNEL, INWARDLY RECTIFYING, BIR SUBUNIT;; BETA-CELL INWARD RECTIFIER SUBUNIT; BIR;; INWARDLY RECTIFYING POTASSIUM CHANNEL Kir6.2
Asterisk 600938 RETINOBLASTOMA-BINDING PROTEIN 6; RBBP6 p53-ASSOCIATED CELLULAR PROTEIN, TESTIS-DERIVED; PACT;; P2PR;; SNAMA, DROSOPHILA, HOMOLOG OF; SNAMA
Asterisk 600939 INTERLEUKIN 11 RECEPTOR, ALPHA; IL11RA IL11RA/GALT SPLICED READ-THROUGH TRANSCRIPT, INCLUDED
Asterisk 600940 LIGASE III, DNA, ATP-DEPENDENT; LIG3 DNA LIGASE III
Asterisk 600941 BILIVERDIN REDUCTASE B; BLVRB BVRB;; NADPH-FLAVIN REDUCTASE; FLR;; METHEMOGLOBIN REDUCTASE;; NADPH REDUCTASE
Caret 600942 MOVED TO 600943
Asterisk 600943 SERPIN PEPTIDASE INHIBITOR, CLADE H, MEMBER 1; SERPINH1 COLLAGEN-BINDING PROTEIN 2; CBP2;; COLLIGIN 2;; SERPINH2;; HEAT-SHOCK PROTEIN 47; HSP47;; RHEUMATOID ARTHRITIS ANTIGEN-A47; RA-A47 CBP1, INCLUDED
Asterisk 600944 DEOXYHYPUSINE SYNTHASE; DHPS
Asterisk 600945 UROCORTIN; UCN UROTENSIN I
Plus 600946 GROWTH HORMONE RECEPTOR; GHR GROWTH HORMONE-BINDING PROTEIN, INCLUDED; GHBP, INCLUDED;; INCREASED RESPONSIVENESS TO GROWTH HORMONE, INCLUDED
Asterisk 600947 HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1 HAP2;; NEUROAN 1
Asterisk 600948 MYELIN-ASSOCIATED OLIGODENDROCYTE BASIC PROTEIN; MOBP
Asterisk 600949 IMMUNOGLOBULIN HEAVY CHAIN VARIABLE REGION-2 IGV2; IGHV2
Asterisk 600950 ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT SEROTONIN N-ACETYLTRANSFERASE; SNAT
Asterisk 600951 TELOMERIC REPEAT-BINDING FACTOR 1; TERF1 TRF1;; TRF;; PIN2
NULL 600952 TRANSSEXUALITY
Asterisk 600953 INTERLEUKIN 18; IL18 INTERFERON-GAMMA-INDUCING FACTOR; IGIF
Asterisk 600954 DEATH-ASSOCIATED PROTEIN; DAP DAP1
Number Sign 600955 PROPROTEIN CONVERTASE 1/3 DEFICIENCY OBESITY AND ENDOCRINOPATHY DUE TO IMPAIRED PROCESSING OF PROHORMONES
Asterisk 600956 ANTI-MULLERIAN HORMONE TYPE II RECEPTOR; AMHR2 ANTI-MULLERIAN HORMONE RECEPTOR; AMHR;; MULLERIAN INHIBITING SUBSTANCE TYPE II RECEPTOR; MISR2
Asterisk 600957 ANTI-MULLERIAN HORMONE; AMH MULLERIAN-INHIBITING SUBSTANCE; MIS;; MULLERIAN-INHIBITING FACTOR; MIF
Asterisk 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3
Asterisk 600959 COATOMER PROTEIN COMPLEX, SUBUNIT BETA 1; COPB1 COATOMER PROTEIN COMPLEX, SUBUNIT BETA; COPB;; BETA COAT PROTEIN
Asterisk 600960 SET TRANSLOCATION, MYELOID LEUKEMIA-ASSOCIATED; SET INHIBITOR OF GZMA-ACTIVATED DNase; IGAAD;; TAFI-BETA
Caret 600961 MOVED TO 601498
Number Sign 600962 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK PPKNE;; NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA;; KERATODERMA, NONEPIDERMOLYTIC PALMOPLANTAR;; TYLOSIS
Asterisk 600963 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 5; SIX5 DM LOCUS-ASSOCIATED HOMEODOMAIN PROTEIN; DMAHP
Caret 600964 MOVED TO 266500
Number Sign 600965 DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6 DEAFNESS, AUTOSOMAL DOMINANT 14; DFNA14;; DEAFNESS, AUTOSOMAL DOMINANT 38; DFNA38
Asterisk 600966 LETHAL GIANT LARVAE, DROSOPHILA, HOMOLOG OF, 1; LLGL1 LLGL;; HUGL1;; DLG4, FORMERLY
Asterisk 600967 E2F TRANSCRIPTION FACTOR 5; E2F5
Asterisk 600968 SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 3; SLC12A3 SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;; THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC;; SODIUM-CHLORIDE COTRANSPORTER; NCC
Number Sign 600969 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY, INCLUDED
Asterisk 600970 MYOSIN VI; MYO6
Number Sign 600971 DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6 NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6; NSRD6
Number Sign 600972 ACHONDROGENESIS, TYPE IB; ACG1B ACHONDROGENESIS, FRACCARO TYPE
Caret 600973 MOVED TO 600308
Number Sign 600974 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7 DEAFNESS, AUTOSOMAL RECESSIVE 11; DFNB11
Percent 600975 GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B GLAUCOMA, PRIMARY CONGENITAL, TYPE B;; GLC3, TYPE B
Asterisk 600976 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 1; FAT1
Number Sign 600977 CONE-ROD DYSTROPHY 5; CORD5
Asterisk 600978 LYMPHOTOXIN-BETA; LTB TUMOR NECROSIS FACTOR C; TNFC
Asterisk 600979 LYMPHOTOXIN B RECEPTOR; LTBR LYMPHOTOXIN-BETA RECEPTOR;; LT-BETA-R;; TUMOR NECROSIS FACTOR C RECEPTOR; TNFCR
Asterisk 600980 DENTIN MATRIX ACIDIC PHOSPHOPROTEIN 1; DMP1
Asterisk 600981 PHOSPHOGLUCOMUTASE 5; PGM5
Asterisk 600982 MITOGEN-ACTIVATED KINASE KINASE KINASE 1; MAP3K1 MAP/ERK KINASE KINASE 1; MEKK1;; MAPKKK1;; MEK KINASE
Asterisk 600983 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2 MINERALOCORTICOID RECEPTOR; MLR; MCR; MR;; ALDOSTERONE RECEPTOR
Asterisk 600984 ACTIVATING TRANSCRIPTION FACTOR 6, BETA; ATF6B cAMP RESPONSE ELEMENT-BINDING PROTEIN-LIKE 1; CREBL1;; CREB-RELATED PROTEIN; CREBRP
Asterisk 600985 TENASCIN XB; TNXB TENASCIN X; TNX;; HEXABRACHION-LIKE; HXBL TENASCIN XB, ISOFORM 1, INCLUDED; TNXB1, INCLUDED;; TENASCIN XB, ISOFORM 2, INCLUDED; TNXB2, INCLUDED
Asterisk 600986 TRIPARTITE MOTIF-CONTAINING PROTEIN 46; TRIM46 GENE Y; GENEY;; TRIFIC
Number Sign 600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR CARDIAC MALFORMATION, CLEFT LIP/PALATE, MICROCEPHALY, AND DIGITAL ANOMALIES
Asterisk 600988 MANNOSIDASE, ALPHA, CLASS 2A, MEMBER 2; MAN2A2 MANA2X
NULL 600989 INFUNDIBULOPELVIC DYSGENESIS
Caret 600990 MOVED TO 119580
NULL 600991 HYDROCEPHALUS, SPRENGEL ANOMALY, AND COSTOVERTEBRAL DYSPLASIA
Caret 600992 MOVED TO 206900
Asterisk 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4 MADH4;; SMA- AND MAD-RELATED PROTEIN 4;; DELETED IN PANCREATIC CARCINOMA 4; DPC4
Number Sign 600994 DEAFNESS, AUTOSOMAL DOMINANT 5; DFNA5
Number Sign 600995 NEPHROTIC SYNDROME, TYPE 2; NPHS2 NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1
Number Sign 600996 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 2; ARVC2
Asterisk 600997 EPHRIN RECEPTOR EphB2; EPHB2 ELK-RELATED TYROSINE KINASE; ERK;; DEVELOPMENTALLY REGULATED EPH-RELATED TYROSINE KINASE; DRT;; EPH TYROSINE KINASE 3; EPHT3;; HEK5
Asterisk 600998 GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; GNAQ G PROTEIN, ALPHA SUBUNIT, Gq CLASS;; G-ALPHA-q
Asterisk 600999 MYC-ASSOCIATED ZINC FINGER PROTEIN; MAZ ZF87;; PUR1, MOUSE, HOMOLOG OF
Caret 601000 MOVED TO 109170
Number Sign 601001 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1
Asterisk 601002 GLUTATHIONE SYNTHETASE; GSS GSHS
Number Sign 601003 BRODY MYOPATHY
NULL 601004 PORTAL VEIN, CAVERNOUS TRANSFORMATION OF
Number Sign 601005 TIMOTHY SYNDROME; TS LONG QT SYNDROME WITH SYNDACTYLY;; LONG QT SYNDROME 8; LQT8
Caret 601006 MOVED TO 138890
Asterisk 601007 LEPTIN RECEPTOR; LEPR OBR
Caret 601008 MOVED TO 148760
Asterisk 601009 TIGHT JUNCTION PROTEIN 1; TJP1 ZONA OCCLUDENS 1; ZO1
Asterisk 601010 TRANSCRIPTION FACTOR 15; TCF15 PARAXIS;; EC2
Asterisk 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;; CaV2.1 CACNA1A C-TERMINAL POLYPEPTIDE, INCLUDED;; ALPHA-1A C-TERMINAL POLYPEPTIDE, INCLUDED;; ALPHA-1ACT, INCLUDED
Asterisk 601012 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, N TYPE, ALPHA-1B SUBUNIT; CACNA1B CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 5; CACNL1A5;; CaV2.2
Asterisk 601013 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT; CACNA1E CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 6; CACNL1A6 CaV2.3;; CALCIUM CHANNEL, R TYPE
Asterisk 601014 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 1; DLG1 SYNAPSE-ASSOCIATED PROTEIN 97; SAP97
Asterisk 601015 NPC2 GENE; NPC2 EPIDIDYMAL SECRETORY PROTEIN; HE1
NULL 601016 MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM DINCSOY SYNDROME
Asterisk 601017 SYNTROPHIN, ALPHA-1; SNTA1 SNT1;; PRO-TGF-ALPHA CYTOPLASMIC DOMAIN-INTERACTING PROTEIN 1; TACIP1
Caret 601018 MOVED TO 600027
Asterisk 601019 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER 9; SLC6A9 GLYCINE TRANSPORTER, TYPE 1; GLYT1 GLYCINE TRANSPORTER 1A, INCLUDED; GLYT1A, INCLUDED;; GLYCINE TRANSPORTER 1B, INCLUDED; GLYT1B, INCLUDED
Asterisk 601020 CD86 ANTIGEN; CD86 CD28 ANTIGEN LIGAND 2; CD28LG2;; B-LYMPHOCYTE ACTIVATION ANTIGEN B7-2; LAB7-2;; B72 ANTIGEN
Asterisk 601021 NUCLEOPORIN, 98-KD; NUP98 NUP98-NUP96 PRECURSOR PROTEIN, INCLUDED;; NUCLEOPORIN, 96-KD, INCLUDED; NUP96, INCLUDED;; NUP98/NSD1 FUSION GENE, INCLUDED;; NUP98/NSD3 FUSION GENE, INCLUDED;; NUP98/PMX1 FUSION GENE, INCLUDED;; NUP98/HOXA9 FUSION GENE, INCLUDED;; NUP98/TOP1 FUSION GENE, INCLUDED;; NUP98/DDX10 FUSION GENE, INCLUDED;; NUP98/HOXD11 FUSION GENE, INCLUDED;; NUP98/HOXC13 FUSION GENE, INCLUDED;; NUP98/ADD3 FUSION GENE, INCLUDED;; NUP98/SETBP1 FUSION GENE, INCLUDED;; NUB98/PHF23 FUSION GENE, INCLUDED;; NUB98/RARG FUSION GENE, INCLUDED;; NUP98/CCDC28A FUSION GENE, INCLUDED;; NUP98/IQCG FUSION GENE, INCLUDED
Asterisk 601022 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR-LIKE 1; NFKBIL1 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS-LIKE; IKBL;; NUCLEAR FACTOR KAPPA-B INHIBITOR-LIKE
Asterisk 601023 VALOSIN-CONTAINING PROTEIN; VCP CDC48, YEAST, HOMOLOG OF;; p97
Asterisk 601024 ADAPTOR-RELATED PROTEIN COMPLEX 2, MU-1 SUBUNIT; AP2M1 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, MEDIUM 1; CLAPM1;; CLATHRIN ADAPTOR PROTEIN 50; AP50;; CLATHRIN ADAPTOR COMPLEX AP2, MU SUBUNIT;; MU-2
Asterisk 601025 ADAPTOR-RELATED PROTEIN COMPLEX 2, BETA-1 SUBUNIT; AP2B1 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, LARGE, BETA-1; CLAPB1;; CLATHRIN ADAPTOR COMPLEX AP2, BETA SUBUNIT;; AP2-BETA;; ADAPTIN, BETA-2
Asterisk 601026 ADAPTOR-RELATED PROTEIN COMPLEX 2, ALPHA-1 SUBUNIT; AP2A1 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, LARGE, ALPHA-1; CLAPA1;; CLATHRIN ADAPTOR COMPLEX AP2, ALPHA SUBUNIT;; AP2-ALPHA;; ADAPTIN, ALPHA
NULL 601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES
Asterisk 601028 CD47 ANTIGEN; CD47 SURFACE ANTIGEN IDENTIFIED BY MONOCLONAL ANTIBODY 1D8; MER6;; INTEGRIN-ASSOCIATED PROTEIN; IAP;; CD47 GLYCOPROTEIN
Asterisk 601029 MESODERM-SPECIFIC TRANSCRIPT, MOUSE, HOMOLOG OF; MEST PATERNALLY EXPRESSED GENE 1; PEG1
Asterisk 601030 RIBONUCLEASE, RNase A FAMILY, 4; RNASE4
Asterisk 601031 RHOPHILIN 1; RHPN1 RHOPHILIN;; RHO GTPase-BINDING PROTEIN 1;; OUTER DENSE FIBER OF SPERM TAILS 5; ODF5;; PKN-RELATED RHO-BINDING PROTEIN
Asterisk 601032 PROTEIN KINASE N1; PKN1 PROTEIN KINASE C-RELATED KINASE 1; PRK1;; SERINE/THREONINE PROTEIN KINASE N; PKN;; PKN-ALPHA;; PROTEIN KINASE C-LIKE 1; PRKCL1;; PAK1, RAT, HOMOLOG OF
Asterisk 601033 LAMININ, ALPHA-5; LAMA5 KIAA0533;; KIAA1907
Caret 601034 MOVED TO 155735
Asterisk 601035 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H1; HNRNPH1 HNRPH1;; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H
Caret 601036 MOVED TO 300610
Asterisk 601037 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN F; HNRNPF HNRPF
Asterisk 601038 DEIODINASE, IODOTHYRONINE, TYPE III; DIO3 THYROXINE DEIODINASE, TYPE III; TXDI3;; IODOTHYRONINE DEIODINASE, PLACENTAL TYPE
NULL 601039 ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN
Asterisk 601040 SCAVENGER RECEPTOR CLASS B, MEMBER 1; SCARB1 CD36 ANTIGEN-LIKE 1; CD36L1;; CD36 AND LIMPII ANALOGOUS 1; CLA1;; SCAVENGER RECEPTOR, CLASS B, TYPE I; SRBI; SRB1
Asterisk 601041 TRANSDUCIN-LIKE ENHANCER OF SPLIT 2; TLE2 ENHANCER OF SPLIT GROUCHO 2; ESG2
Number Sign 601042 DYSTONIA 9; DYT9 CHOREOATHETOSIS/SPASTICITY, EPISODIC;; CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA;; CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
Caret 601043 MOVED TO 600701
Caret 601044 MOVED TO 600701
Asterisk 601045 CATENIN, DELTA-1; CTNND1 CATENIN, DELTA; CTNND;; CADHERIN-ASSOCIATED SRC SUBSTRATE; CAS;; p120(CTN)
Asterisk 601046 MATRIX METALLOPROTEINASE 12; MMP12 MACROPHAGE METALLOELASTASE; MME
Asterisk 601047 CAVEOLIN 1; CAV1 CAVEOLAE PROTEIN, 22-KD; CAV
Asterisk 601048 CAVEOLIN 2; CAV2 CAVEOLAE PROTEIN, 20-KD
Caret 601049 MOVED TO 300119
Caret 601050 REMOVED FROM DATABASE
Asterisk 601051 MESOTHELIN; MSLN ANTIGEN RECOGNIZED BY MONOCLONAL ANTIBODY K1;; MEGAKARYOCYTE-POTENTIATING FACTOR; MPF;; SOLUBLE MPF/MESOTHELIN-RELATED PROTEIN; SMR
Asterisk 601052 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1 DODO, DROSOPHILA, HOMOLOG OF; DOD
Asterisk 601053 PLEXIN B1; PLXNB1 PLEXIN 5; PLXN5;; TRANSMEMBRANE PROTEIN SEP; SEP
Asterisk 601054 PLEXIN A2; PLXNA2 PLEXIN 2; PLXN2;; TRANSMEMBRANE PROTEIN OCT; OCT
Asterisk 601055 PLEXIN A1; PLXNA1 PLEXIN 1; PLXN1;; TRANSMEMBRANE PROTEIN NOV; NOV
Asterisk 601056 BCL2-RELATED PROTEIN A1; BCL2A1 BCL2-RELATED GENE BFL1; BFL1
Asterisk 601057 PROGRAMMED CELL DEATH 6; PDCD6 APOPTOSIS-LINKED GENE 2; ALG2
Asterisk 601058 H3 HISTONE, FAMILY 3B; H3F3B H3.3B
Caret 601059 MOVED TO 146920
Asterisk 601060 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 2; ENPP2 PHOSPHODIESTERASE I/NUCLEOTIDE PYROPHOSPHATASE 2; PDNP2;; PDI-ALPHA;; AUTOTAXIN; ATX;; LYSOPHOSPHOLIPASE D
Asterisk 601061 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE D2; SNRPD2
Asterisk 601062 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE D3; SNRPD3
Asterisk 601063 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE D1; SNRPD1
Asterisk 601064 ZINC FINGER PROTEIN 36-LIKE 1; ZFP36L1 ZFP36-LIKE 1;; EGF-RESPONSE FACTOR 1; ERF1;; BUTYRATE RESPONSE FACTOR 1; BRF1;; B-CELL EARLY RESPONSE GENE, 36-KD; BERG36
Asterisk 601065 ALANYL-tRNA SYNTHETASE; AARS ALARS
Asterisk 601066 OXIDASE, CYTOCHROME c, ASSEMBLY 1-LIKE; OXA1L CYTOCHROME c OXIDASE ASSEMBLY 1-LIKE;; OXA1-LIKE GENE
Number Sign 601067 USHER SYNDROME, TYPE ID; USH1D USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC, INCLUDED;; USH1D/F, CDH23/PCDH15, DIGENIC, INCLUDED
Percent 601068 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1 BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 1; BAFME1;; CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 1; FCMTE1
Asterisk 601069 ZINC FINGER PROTEIN 239; ZNF239 ZINC FINGER PROTEIN MOK2; MOK2
Asterisk 601070 INTERLEUKIN 15 RECEPTOR, ALPHA; IL15RA
Number Sign 601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9; NSRD9 AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, INCLUDED; AUNB1, INCLUDED;; AUDITORY NEUROPATHY, NONSYNDROMIC RECESSIVE, INCLUDED; NSRAN, INCLUDED
Number Sign 601072 DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8 DEAFNESS, AUTOSOMAL RECESSIVE 10; DFNB10;; DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8; DFNB8;; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8; NSRD8
Caret 601073 MOVED TO 600737
Asterisk 601074 CUGBP- AND ELAV-LIKE FAMILY, MEMBER 1; CELF1 CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 1; CUGBP1;; CUG-BINDING PROTEIN; CUGBP;; NUCLEAR POLYADENYLATED RNA-BINDING PROTEIN, 50-KD; NAB50;; BRUNO-LIKE 2; BRUNOL2
NULL 601075 APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION
Percent 601076 MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACIC SOMITE ANOMALIES; MURCS MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME, TYPE II;; MRKH, TYPE II;; KLIPPEL-FEIL DEFORMITY, CONDUCTIVE DEAFNESS, AND ABSENT VAGINA
Asterisk 601077 KERATIN 31, TYPE I; KRT31 K31;; KA25;; KERATIN, HAIR, ACIDIC, 1; KRTHA1;; KERATIN, HARD, TYPE I, 1; HA1
Asterisk 601078 KERATIN 82, TYPE II; KRT82 K82;; KB22;; KERATIN, HAIR, BASIC, 2; KRTHB2;; KERATIN, HARD, TYPE II, 2; HB2
Asterisk 601079 ZINC FINGER-, CCCH DOMAIN-, AND RNA-BINDING MOTIF-CONTAINING SERINE/ARGININE-RICH PROTEIN 1; ZRSR1 U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, SMALL SUBUNIT 1; U2AF1RS1
Asterisk 601080 U2 SMALL NUCLEAR RNA AUXILIARY FACTOR 1-LIKE 4; U2AF1L4 U2AF1-LIKE 4;; U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, SMALL SUBUNIT 3; U2AF1RS3;; U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, 26-KD; U2AF26
Asterisk 601081 ATP-BINDING CASSETTE, SUBFAMILY 3, MEMBER 2; ABCD2 ADRENOLEUKODYSTROPHY-LIKE 1; ALDL1;; ADRENOLEUKODYSTROPHY-RELATED; ALDR
Asterisk 601082 UBIQUITIN-CONJUGATING ENZYME E2H; UBE2H UBIQUITIN-CONJUGATING ENZYME UBC8, YEAST, HOMOLOG OF;; UBCH2;; GID COMPLEX, SUBUNIT 3; GID3;; GLUCOSE-INDUCED DEGRADATION-DEFICIENT PROTEIN 3, S. CEREVISIAE, HOMOLOG OF
NULL 601083 CD4/CD8 T-CELL RATIO
Caret 601084 MOVED TO 606634
Caret 601085 MOVED TO 245570
Percent 601086 LATERALITY DEFECTS, AUTOSOMAL DOMINANT
Caret 601087 MOVED TO 121210
Number Sign 601088 AYME-GRIPP SYNDROME; AYGRP CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION
Asterisk 601089 FORKHEAD BOX F1; FOXF1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 5; FKHL5;; FORKHEAD-RELATED ACTIVATOR 1; FREAC1
Asterisk 601090 FORKHEAD BOX C1; FOXC1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7; FKHL7;; FORKHEAD-RELATED ACTIVATOR 3; FREAC3
Asterisk 601091 FORKHEAD BOX D1; FOXD1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 8; FKHL8;; FORKHEAD-RELATED ACTIVATOR 4; FREAC4
Asterisk 601092 FORKHEAD BOX D4; FOXD4 FORKHEAD-LIKE 9; FKHL9;; FKH-LIKE 9;; FORKHEAD-RELATED ACTIVATOR 5; FREAC5
Asterisk 601093 FORKHEAD BOX I1; FOXI1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 10; FKHL10;; FKH10;; FORKHEAD-RELATED ACTIVATOR 6; FREAC6
Asterisk 601094 FORKHEAD BOX E3; FOXE3 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 12; FKHL12;; FORKHEAD-RELATED ACTIVATOR 8; FREAC8
NULL 601095 HARROD SYNDROME
NULL 601096 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC SEMD, MICROMELIC;; DWARFISM, MICROMELIC, WITH CONE EPIPHYSES, METAPHYSEAL DYSPLASIA, AND VERTEBRAL SEGMENTATION DEFECTS
Asterisk 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22 GROWTH ARREST-SPECIFIC 3; GAS3
Number Sign 601098 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C CMT, SLOW NERVE CONDUCTION TYPE C;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1C;; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC; HMSN1C;; HMSN IC
Asterisk 601099 SRC-LIKE ADAPTOR; SLA SLAP
Asterisk 601100 HEAT SHOCK 70-KD PROTEIN 13; HSPA13 STRESS 70 PROTEIN CHAPERONE, MICROSOME-ASSOCIATED, 60-KD; STCH
Percent 601101 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 3; HHT3
Asterisk 601102 EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 2; EIF4A2 DDX2B
Asterisk 601103 MICROFIBRILLAR-ASSOCIATED PROTEIN 5; MFAP5 MICROFIBRIL-ASSOCIATED GLYCOPROTEIN 2; MAGP2
Number Sign 601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1 PSP;; STEELE-RICHARDSON-OLSZEWSKI SYNDROME
Asterisk 601105 CATHEPSIN K; CTSK
Caret 601106 REMOVED FROM DATABASE
Asterisk 601107 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 2; ABCC2 MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT;; MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2
Caret 601108 MOVED TO 300283
Asterisk 601109 5-HYDROXYTRYPTAMINE RECEPTOR 6; HTR6 SEROTONIN 5-HT-6 RECEPTOR
Number Sign 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D CDG Id; CDGId;; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV, FORMERLY; CDGS4, FORMERLY;; CDGS, TYPE IV, FORMERLY
Caret 601111 MOVED TO 600941
Asterisk 601112 THIOREDOXIN REDUCTASE 1; TXNRD1 TXNR;; TR1
Asterisk 601113 HEAT-SHOCK 70-KD PROTEIN 4; HSPA4 HSP70
Asterisk 601114 MEMBRANE PROTEIN, PALMITOYLATED 3; MPP3 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 3, FORMERLY; DLG3, FORMERLY
Asterisk 601115 GLUTAMATE RECEPTOR, METABOTROPIC, 3; GRM3 MGLUR3
Asterisk 601116 GLUTAMATE RECEPTOR, METABOTROPIC, 8; GRM8 MGLUR8
Asterisk 601117 THIMET OLIGOPEPTIDASE 1; THOP1 TOP
Asterisk 601118 CALCIUM-MODULATING CYCLOPHILIN LIGAND; CAMLG CAML
Asterisk 601119 CASEINOLYTIC MITOCHONDRIAL MATRIX PEPTIDASE PROTEOLYTIC SUBUNIT; CLPP ClpP, E. COLI, HOMOLOG OF; CLPP
Asterisk 601120 CADHERIN 5; CDH5 CADHERIN, VASCULAR ENDOTHELIAL, 1;; CADHERIN, VASCULAR ENDOTHELIAL;; VE-CADHERIN
Asterisk 601121 PLACENTAL GROWTH FACTOR; PGF PLGF
Asterisk 601122 5-HYDROXYTRYPTAMINE RECEPTOR 2B; HTR2B SEROTONIN 5-HT-2B RECEPTOR
Asterisk 601123 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 1; ST8SIA1 ALPHA-2,8-SIALYLTRANSFERASE I;; ST8SIA I;; SIALYLTRANSFERASE 8; SIAT8;; ALPHA-N-ACETYLNEURAMINATE: ALPHA-2,8-SIALYLTRANSFERASE;; GANGLIOSIDE GD3 SYNTHASE
Asterisk 601124 SEMAPHORIN 3F; SEMA3F SEMAPHORIN III/F;; SEMAPHORIN IV; SEMA4;; SEMAPHORIN K; SEMAK
Asterisk 601125 HEXOKINASE 2; HK2
Asterisk 601126 TATA ELEMENT MODULATORY FACTOR 1; TMF1
NULL 601127 FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION
Asterisk 601128 H3 HISTONE, FAMILY 3A; H3F3A H3F3;; H3.3A
Plus 601129 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 8; CYP2C8 RHABDOMYOLYSIS, CERIVASTATIN-INDUCED, INCLUDED
Asterisk 601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9
Asterisk 601131 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 18; CYP2C18
Asterisk 601132 KINASE SUPPRESSOR OF RAS 1; KSR1 KSR
Asterisk 601133 CYTOCHROME P450, SUBFAMILY IIG, POLYPEPTIDE 1; CYP2G1 CYTOCHROME P450, FAMILY II, OLFACTORY-SPECIFIC, 1
Asterisk 601134 OLIGOSACCHARYLTRANSFERASE COMPLEX, CATALYTIC SUBUNIT STT3A; STT3A STT3, S. CEREVISIAE, HOMOLOG OF, A;; INTEGRAL MEMBRANE PROTEIN 1; ITM1;; TRANSMEMBRANE CONSERVED GENE; TMC
Asterisk 601135 GASTRULATION BRAIN HOMEOBOX 2; GBX2 GASTRULATION AND BRAIN-SPECIFIC 2
NULL 601136 TRANSSUPPRESSOR OF EXPRESSION 2 TSE2;; ALBUMIN EXTINGUISHER
Caret 601137 MOVED TO 601138
NULL 601138 GUANYLATE CYCLASE 2E, PSEUDOGENE; GUCY2EP GUCY2E;; GUANYLYL CYCLASE, MEMBRANE, TYPE E;; GC-E;; GUCY2D, MOUSE, HOMOLOG OF
Asterisk 601139 ZINC FINGER PROTEIN 175; ZNF175 ZINC FINGER PROTEIN OTK18; OTK18
Asterisk 601140 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14B; PPP1R14B PHOSPHOLIPASE C, BETA-3, NEIGHBORING GENE OF; PLCB3N;; PNG
Asterisk 601141 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER 1; KCNAB1 KCNA1B;; KV-BETA-1
Asterisk 601142 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER 2; KCNAB2 KCNA2B;; KV-BETA-2
Asterisk 601143 DYNACTIN 1; DCTN1 p150(GLUED), DROSOPHILA, HOMOLOG OF
Number Sign 601144 BRUGADA SYNDROME 1; BRGDA1 RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME;; SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME; SUNDS CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED
Asterisk 601145 CYSTATIN B; CSTB STEFIN B; STFB
Asterisk 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5 CARTILAGE-DERIVED MORPHOGENETIC PROTEIN 1; CDMP1;; LIPOPOLYSACCHARIDE-ASSOCIATED PROTEIN 4; LAP4;; LPS-ASSOCIATED PROTEIN 4;; BONE MORPHOGENETIC PROTEIN 14; BMP14
Asterisk 601147 GROWTH/DIFFERENTIATION FACTOR 6; GDF6 CARTILAGE-DERIVED MORPHOGENETIC PROTEIN 2; CDMP2
Asterisk 601148 SPERM MITOCHONDRIA-ASSOCIATED CYSTEINE-RICH PROTEIN; SMCP MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP; MCS
Asterisk 601149 ISOCITRATE DEHYDROGENASE 3, ALPHA SUBUNIT; IDH3A ISOCITRATE DEHYDROGENASE, NAD(+)-SPECIFIC, MITOCHONDRIAL, ALPHA SUBUNIT
Asterisk 601150 DEAD/H BOX 11; DDX11 CHL1-RELATED HELICASE GENE 1; CHLR1;; KERATINOCYTE GROWTH FACTOR REGULATED GENE 2; KRG2
Asterisk 601151 DEAD/H BOX 12; DDX12 CHL1-RELATED HELICASE GENE 2; CHLR2
Number Sign 601152 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA; HMSN6A HMSN VIA;; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI; HMSN6;; PERIPHERAL NEUROPATHY AND OPTIC ATROPHY;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A; CMT6A;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; CMT6
Asterisk 601153 FRAGILE HISTIDINE TRIAD GENE; FHIT AP3A HYDROLASE FRAGILE SITE 3p14.2, INCLUDED; FRA3B, INCLUDED
Number Sign 601154 CARDIOMYOPATHY, DILATED, 1E; CMD1E CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA;; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CDCD2
Asterisk 601155 MINOR HISTOCOMPATIBILITY ANTIGEN HA-1; HMHA1 HISTOCOMPATIBILITY (MINOR) HA-1;; HLA-HA1;; KIAA0223
Asterisk 601156 CHEMOKINE, CC MOTIF, LIGAND 11; CCL11 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 11; SCYA11;; SMALL INDUCIBLE CYTOKINE A11;; EOTAXIN
Asterisk 601157 DEFENSIN, ALPHA, 4; DEFA4 DEFENSIN 4, CORTICOSTATIN; DEF4;; CORTICOSTATIN HP4 PRECURSOR
Asterisk 601158 MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8 PROTEIN KINASE, MITOGEN-ACTIVATED, 8; PRKM8;; C-JUN KINASE 1; JNK1;; STRESS-ACTIVATED PROTEIN KINASE JNK1; SAPK1
Asterisk 601159 CHEMOKINE, CC MOTIF, RECEPTOR 1; CCR1 CMKBR1;; CKR1;; MACROPHAGE INFLAMMATORY PROTEIN 1-ALPHA/RANTES RECEPTOR;; HM145
NULL 601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA
NULL 601161 TRISOMY 18-LIKE SYNDROME
Number Sign 601162 SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A CATARACTS WITH MOTOR NEURONOPATHY, SHORT STATURE, AND SKELETAL ABNORMALITIES;; SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
Percent 601163 DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL FROSTER SYNDROME
Caret 601164 MOVED TO 241080
NULL 601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE
Asterisk 601166 G PROTEIN-COUPLED RECEPTOR 15; GPR15
Asterisk 601167 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 1; P2RY1 PURINOCEPTOR P2Y1; P2Y1
Asterisk 601168 DIHYDROPYRIMIDINASE-LIKE 3; DPYSL3 UNC33-LIKE PHOSPHOPROTEIN; ULIP;; DIHYDROPYRIMIDINASE-RELATED PROTEIN 3; DRP3;; COLLAPSIN RESPONSE MEDIATOR PROTEIN 4; CRMP4
Caret 601169 REMOVED FROM DATABASE
NULL 601170 MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS
Caret 601171 MOVED TO 173321
Asterisk 601172 CHONDROITIN SULFATE PROTEOGLYCAN 4; CSPG4 CHONDROITIN SULFATE PROTEOGLYCAN, MELANOMA-ASSOCIATED; MCSP; MCSPG;; MEL-CSPG;; MSK16;; CHONDROITIN SULFATE PROTEOGLYCAN NG2, RAT, HOMOLOG OF; NG2
Caret 601173 MOVED TO 253600
Caret 601174 MOVED TO 123280
Asterisk 601175 ADP-RIBOSYLATION FACTOR-LIKE 2; ARL2
Asterisk 601176 GLUTAMATE-CYSTEINE LIGASE, MODIFIER SUBUNIT; GCLM GLUTAMATE-CYSTEINE LIGASE, REGULATORY; GLCLR;; GAMMA-GLUTAMYLCYSTEINE SYNTHETASE, REGULATORY SUBUNIT
Asterisk 601177 ADP-RIBOSYLATION FACTOR 4; ARF4 ADP-RIBOSYLATION FACTOR 2, FORMERLY; ARF2, FORMERLY
Asterisk 601178 CELL CYCLE-ASSOCIATED PROTEIN 1; CAPRIN1 CYTOPLASMIC ACTIVATION- AND PROLIFERATION-ASSOCIATED PROTEIN 1;; CAPRIN 1;; MEMBRANE COMPONENT, CHROMOSOME 11, SURFACE MARKER 1; M11S1;; GPI-ANCHORED MEMBRANE PROTEIN 1; GPIAP1;; GPI-ANCHORED MEMBRANE PROTEIN, 137-KD; GRIP137;; p137GPI;; RNA GRANULE PROTEIN 105; RNG105
Asterisk 601179 RAS-RELATED NUCLEAR PROTEIN; RAN
Asterisk 601180 RAN-BINDING PROTEIN 1; RANBP1 HPAII TINY FRAGMENTS LOCUS 9A; HTF9A
Asterisk 601181 RAN-BINDING PROTEIN 2; RANBP2 NUP358
Asterisk 601182 ORIGIN RECOGNITION COMPLEX, SUBUNIT 2, S. CEREVISIAE, HOMOLOG OF; ORC2 ORC2-LIKE; ORC2L
Asterisk 601183 CYSTEINE-RICH INTESTINAL PROTEIN 2; CRIP2 CYSTEINE-RICH PROTEIN 2; CRP2;; LIM DOMAIN PROTEIN ESP1/CRP2
Asterisk 601184 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 3; DNAJC3 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-DEPENDENT, INHIBITOR OF; PRKRI;; PROTEIN KINASE INHIBITOR P58
Asterisk 601185 STANNIOCALCIN 1; STC1 STANNIOCALCIN; STC
Number Sign 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9 ANOPHTHALMIA, CLINICAL, WITH MILD FACIAL DYSMORPHISM AND VARIABLE MALFORMATIONS OF THE LUNG, HEART, AND DIAPHRAGM;; ANOPHTHALMIA/MICROPHTHALMIA AND PULMONARY HYPOPLASIA;; PULMONARY HYPOPLASIA-DIAPHRAGMATIC HERNIA-ANOPHTHALMIA-CARDIAC DEFECT; PDAC;; SPEAR SYNDROME;; MATTHEW-WOOD SYNDROME;; PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT; PMD MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, INCLUDED; MCOPCB8, INCLUDED
NULL 601187 GURRIERI SYNDROME
NULL 601188 SUPPRESSION OF TUMORIGENICITY 12; ST12 PROSTATE ADENOCARCINOMA 1; PAC1
Asterisk 601189 POLYMERASE II, RNA, SUBUNIT L; POLR2L RPB10, S. CEREVISIAE, HOMOLOG OF;; RPB10-BETA, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 7.6-KD SUBUNIT
Asterisk 601190 PHOSPHODIESTERASE 6H, cGMP-SPECIFIC, CONE, GAMMA; PDE6H
Asterisk 601191 ENHANCER OF RUDIMENTARY, DROSOPHILA, HOMOLOG OF; ERH DROER, DROSOPHILA, HOMOLOG OF
Asterisk 601192 PHOSPHOLIPASE A2, GROUP V; PLA2G5
Asterisk 601193 CYSTEINE-RICH SECRETORY PROTEIN 1; CRISP1 ACIDIC EPIDIDYMAL GLYCOPROTEIN-LIKE 1; AEGL1
Asterisk 601194 TOLL-LIKE RECEPTOR 1; TLR1 TOLL/INTERLEUKIN 1 RECEPTOR-LIKE; TIL
NULL 601195 IRON OVERLOAD IN AFRICA AFRICAN IRON OVERLOAD;; BANTU SIDEROSIS
Asterisk 601196 PR DOMAIN-CONTAINING PROTEIN 2; PRDM2 RETINOBLASTOMA PROTEIN-BINDING ZINC FINGER PROTEIN RIZ; RIZ
Asterisk 601197 TUBBY, MOUSE, HOMOLOG OF; TUB
Number Sign 601198 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1; HYPOC1 HYPERCALCIURIC HYPOCALCEMIA;; HYPOCALCEMIA, FAMILIAL HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME, INCLUDED
Plus 601199 CALCIUM-SENSING RECEPTOR; CASR PARATHYROID CA(2+)-SENSING RECEPTOR 1; PCAR1 HYPERCALCIURIC HYPERCALCEMIA, INCLUDED;; CALCIUM, SERUM LEVEL OF, INCLUDED
Number Sign 601200 PLEUROPULMONARY BLASTOMA; PPB PPB FAMILIAL TUMOR AND DYSPLASIA SYNDROME; PPBFTDS
Asterisk 601201 METHYLATION MODIFIER FOR CLASS I HLA MEMO1
Percent 601202 CATARACT 24; CTRCT24 CATARACT 24, ANTERIOR POLAR;; CATARACT, ANTERIOR POLAR, 2; CTAA2
Asterisk 601203 INTERLEUKIN 1 RECEPTOR-LIKE 1; IL1RL1 GROWTH STIMULATION-EXPRESSED GENE, MOUSE, HOMOLOG OF;; ST2, MOUSE, HOMOLOG OF; ST2;; INTERLEUKIN 33 RECEPTOR; IL33R
Asterisk 601204 PROSTAGLANDIN F2 RECEPTOR NEGATIVE REGULATOR; PTGFRN FP REGULATORY PROTEIN; FPRP;; CD9 PARTNER 1; CD9P1
Asterisk 601205 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; SIX1
Asterisk 601206 POU DOMAIN, CLASS 2, ASSOCIATING FACTOR 1; POU2AF1 OCT-BINDING FACTOR 1; OBF1;; BOB1;; OCAB
Asterisk 601207 DIACYLGLYCEROL KINASE, THETA, 110-KD; DGKQ DIACYLGLYCEROL KINASE, DELTA, 110-KD, FORMERLY; DAGK4, FORMERLY;; DGK-DELTA, FORMERLY
Percent 601208 DIABETES MELLITUS, INSULIN-DEPENDENT, 11; IDDM11 INSULIN-DEPENDENT DIABETES MELLITUS 11
Asterisk 601209 POLY(rC)-BINDING PROTEIN 1; PCBP1
Asterisk 601210 POLY(rC)-BINDING PROTEIN 2; PCBP2 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN E2; HNRNPE2;; HNRPE2
Asterisk 601211 ADHESION G PROTEIN-COUPLED RECEPTOR E5; ADGRE5 CD97 ANTIGEN; CD97
Asterisk 601212 PROTEIN-TYROSINE KINASE 2, BETA; PTK2B PROLINE-RICH TYROSINE KINASE 2; PYK2;; FOCAL ADHESION KINASE 2; FAK2;; CELL ADHESION KINASE, BETA; CAKB
Asterisk 601213 RIBONUCLEASE 4 INHIBITOR; RNS4I RNase L INHIBITOR;; ATP-BINDING CASSETTE, SUBFAMILY E, MEMBER 1; ABCE1
Number Sign 601214 NAXOS DISEASE; NXD CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES;; MAL DE NAXOS;; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY;; WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES;; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR
Asterisk 601215 ATR GENE; ATR ATAXIA-TELANGIECTASIA AND RAD3-RELATED;; FRAP-RELATED PROTEIN 1; FRP1
Number Sign 601216 DENTAL ANOMALIES AND SHORT STATURE; DASS PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA;; TOOTH AGENESIS, SELECTIVE, 6, FORMERLY; STHAG6, FORMERLY
NULL 601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPIC HYPOGONADISM
Asterisk 601218 ADENOSINE DEAMINASE, RNA-SPECIFIC, B1; ADARB1 ADENOSINE DEAMINASE, RNA-SPECIFIC, 2; ADAR2;; RNA-EDITING ENZYME 1, RAT, HOMOLOG OF; RED1;; RNA EDITASE 1
Caret 601219 MOVED TO 182390
NULL 601220 OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME; OOCH
NULL 601221 TISSUE-SPECIFIC EXTINGUISHER 3 TSE3
Caret 601222 MOVED TO 185900
NULL 601223 NEURONAL INTESTINAL DYSPLASIA, TYPE B NID B
Number Sign 601224 POTOCKI-SHAFFER SYNDROME PSS;; CHROMOSOME 11p11.2 DELETION SYNDROME;; PROXIMAL 11p DELETION SYNDROME; P11pDS;; DEFECT11 SYNDROME
Asterisk 601225 DISHEVELLED 1-LIKE 1; DVL1L1 DISHEVELLED, DROSOPHILA, HOMOLOG-LIKE;; DSH
Caret 601226 MOVED TO 601227
Caret 601227 MOVED TO 157640
Number Sign 601228 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1 CHROMOSOME 15q13-q14 DUPLICATION SYNDROME, 40-KB;; COLORECTAL ADENOMA AND CARCINOMA 1; CRAC1 COLORECTAL CANCER, SUSCEPTIBILITY TO, 4, INCLUDED; CRCS4, INCLUDED;; COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15, INCLUDED
Caret 601229 MOVED TO 151430
NULL 601230 DERMATITIS HERPETIFORMIS, FAMILIAL DH
Asterisk 601231 MECHANISTIC TARGET OF RAPAMYCIN; MTOR MAMMALIAN TARGET OF RAPAMYCIN;; FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1;; FK506-BINDING PROTEIN 12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1;; FRAP;; FRAP2;; RAFT1 MTOR COMPLEX, INCLUDED; MTORC, INCLUDED;; MECHANISTIC TARGET OF RAPAMYCIN COMPLEX 1, INCLUDED; MTORC1, INCLUDED;; MECHANISTIC TARGET OF RAPAMYCIN COMPLEX 2, INCLUDED; MTORC2, INCLUDED
Asterisk 601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, 110-KD, GAMMA;; p110-GAMMA;; PI3K-GAMMA;; PIK3-GAMMA;; p120-PI3K
Asterisk 601233 INHIBIN, BETA C; INHBC
Asterisk 601234 NASCENT POLYPEPTIDE-ASSOCIATED COMPLEX, ALPHA POLYPEPTIDE; NACA SKELETAL MUSCLE NACA, INCLUDED; SKNAC, INCLUDED
Asterisk 601235 DEAD/H BOX 10; DDX10 DDX10/NUP98 FUSION GENE, INCLUDED
Asterisk 601236 DISABLED, DROSOPHILA, HOMOLOG OF, 2; DAB2 DIFFERENTIALLY EXPRESSED IN OVARIAN CANCER 2; DOC2
Asterisk 601237 RING FINGER PROTEIN 112; RNF112 ZINC FINGER PROTEIN 179; ZNF179;; BRAIN FINGER PROTEIN, MOUSE, HOMOLOG OF; BFP;; NEUROLASTIN
Number Sign 601238 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY
Asterisk 601239 DYSTROBREVIN, ALPHA; DTNA DYSTROBREVIN;; DYSTROPHIN-RELATED PROTEIN 3; DRP3;; D18S892E
Asterisk 601240 GUANIDINOACETATE METHYLTRANSFERASE; GAMT
Asterisk 601241 HISTONE DEACETYLASE 1; HDAC1 HD1;; REDUCED POTASSIUM DEPENDENCY 3, YEAST, HOMOLOG-LIKE 1; RPD3L1;; RPD3-LIKE 1
Asterisk 601242 MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, ALPHA; MAP1LC3A MICROTUBULE-ASSOCIATED PROTEINS 1A AND 1B, LIGHT CHAIN 3;; MAP1ALC3;; MAP1BLC3;; LC3A;; LC3
Asterisk 601243 TOPOISOMERASE, DNA, III, ALPHA; TOP3A TOPOISOMERASE, DNA, III; TOP3;; TOPO III-ALPHA
Asterisk 601244 GUANYLATE CYCLASE 1, SOLUBLE, ALPHA-2; GUCY1A2 GUC1A2;; GUANYLYL CYCLASE, SOLUBLE, ALPHA-2;; GUANYLYL CYCLASE, NITRIC OXIDE-SENSITIVE, ALPHA-2 SUBUNIT;; NITRIC OXIDE-SENSITIVE GUANYLYL CYCLASE, ALPHA-2 SUBUNIT;; NOGC, ALPHA-2 SUBUNIT
Asterisk 601245 CHROMATIN ASSEMBLY FACTOR I, SUBUNIT B; CHAF1B CHROMATIN ASSEMBLY FACTOR I, p60 SUBUNIT; CAF1P60;; CAF1A
Asterisk 601246 CHROMATIN ASSEMBLY FACTOR I, SUBUNIT A; CHAF1A CHROMATIN ASSEMBLY FACTOR I, p150 SUBUNIT; CAF1P150;; CAF1B
Asterisk 601247 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 2; SOS2
Asterisk 601248 BRIDGING INTEGRATOR 1; BIN1 AMPHIPHYSIN II; AMPH2;; BOX-DEPENDENT MYC-INTERACTING PROTEIN 1;; AMPHIPHYSIN-LIKE, FORMERLY; AMPHL, FORMERLY
Asterisk 601249 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE-ASSOCIATED PROTEIN 1; PRPSAP1 PAP39
Asterisk 601250 PEPTIDE METHIONINE SULFOXIDE REDUCTASE; MSRA
Caret 601251 MOVED TO 601777
Asterisk 601252 FICOLIN 1; FCN1 COLLAGEN/FIBRINOGEN DOMAIN-CONTAINING LECTIN 1 P35-LIKE;; FICOLIN B, MOUSE, HOMOLOG OF; FCNB
Asterisk 601253 CAVEOLIN 3; CAV3 M-CAVEOLIN
Asterisk 601254 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 6; MAP2K6 PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 6; PRKMK6;; MKK6; MAPKK6;; MAPK/ERK KINASE 6; MEK6
Asterisk 601255 KINESIN FAMILY MEMBER 1A; KIF1A AXONAL TRANSPORTER OF SYNAPTIC VESICLES; ATSV;; UNC104, C. ELEGANS, HOMOLOG OF; UNC104;; KINESIN, HEAVY CHAIN, MEMBER 1A, MOUSE, HOMOLOG OF
Caret 601256 MOVED TO 106165
Asterisk 601257 DEAD/H BOX 1; DDX1
Asterisk 601258 CYTOCHROME P450, SUBFAMILY IIJ, POLYPEPTIDE 2; CYP2J2 CYTOCHROME P450 ARACHIDONIC ACID EPOXYGENASE
Asterisk 601259 AMELOBLASTIN ENAMEL MATRIX PROTEIN; AMBN
Asterisk 601260 ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 1; ZKSCAN1 ZINC FINGER PROTEIN 36; ZNF36;; ZINC FINGER PROTEIN, KRUPPEL TYPE, 18; KOX18;; ZINC FINGER PROTEIN 139, FORMERLY; ZNF139, FORMERLY
Asterisk 601261 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 21; ZSCAN21 ZINC FINGER PROTEIN 38; ZNF38;; ZINC FINGER PROTEIN, KRUPPEL TYPE, 25; KOX25
Asterisk 601262 ZINC FINGER PROTEIN 16; ZNF16 ZINC FINGER PROTEIN, KRUPPEL TYPE, 9; KOX9
Asterisk 601263 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2; MAP2K2 PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 2; PRKMK2;; MKK2; MAPKK2;; MAPK/ERK KINASE 2; MEK2
Caret 601264 MOVED TO 601271
Asterisk 601265 NODAL, MOUSE, HOMOLOG OF; NODAL
Asterisk 601266 dUTP PYROPHOSPHATASE; DUT DEOXYURIDINE TRIPHOSPHATE NUCLEOTIDOHYDROLASE;; DEOXYURIDINE TRIPHOSPHATASE;; dUTPase
Asterisk 601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2 CMKBR2;; CKR2;; MONOCYTE CHEMOTACTIC PROTEIN 1 RECEPTOR;; MCP1 RECEPTOR CCR2A, INCLUDED; CKR2A, INCLUDED;; CCR2B, INCLUDED; CKR2B, INCLUDED
Asterisk 601268 CHEMOKINE, CC MOTIF, RECEPTOR 3; CCR3 CMKBR3;; CKR3;; EOTAXIN RECEPTOR
Asterisk 601269 COMPLEMENT COMPONENT C1q-BINDING PROTEIN; C1QBP C1q GLOBULAR DOMAIN-BINDING PROTEIN;; GLOBULAR DOMAIN OF C1q, RECEPTOR FOR; GC1qR;; HYALURONIC ACID-BINDING PROTEIN 1; HABP1;; P32 SPLICING FACTOR SF2-ASSOCIATED PROTEIN
Asterisk 601270 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 3; CYP4F3 CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 3;; LEUKOTRIENE B4 OMEGA-HYDROXYLASE; LTB4H;; LTB4 OMEGA-HYDROXYLASE
Asterisk 601271 GUANYLATE CYCLASE ACTIVATOR 2B; GUCA2B UROGUANYLIN; UGN;; GUANYLATE CYCLASE C ACTIVATING PEPTIDE II;; GCAP II
Asterisk 601272 SORTING NEXIN 1; SNX1 SORTING NEXIN 1A, INCLUDED; SNX1A, INCLUDED
Asterisk 601273 CLATHRIN, HEAVY POLYPEPTIDE-LIKE 1; CLTCL1 CLATHRIN, HEAVY POLYPEPTIDE D; CLTD;; CLH22;; CHC22
Asterisk 601274 PROSTAGLANDIN REDUCTASE 1; PTGR1 LEUKOTRIENE B4 12-HYDROXYDEHYDROGENASE; LTB4DH
Asterisk 601275 GLYCOPROTEIN M6A; GPM6A NEURONAL MEMBRANE GLYCOPROTEIN M6A
Asterisk 601276 ZINC FINGER PROTEIN 177; ZNF177 KRAB ZINC FINGER PROTEIN 177
Number Sign 601277 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A ICHTHYOSIS CONGENITA IIB; ICR2B;; ICHTHYOSIS, LAMELLAR, 2, FORMERLY; LI2, FORMERLY
Asterisk 601278 FSHD REGION GENE 1; FRG1
Asterisk 601279 DIGEORGE SYNDROME CRITICAL REGION GENE 6; DGCR6
Asterisk 601280 MAB21, C. ELEGANS, HOMOLOG-LIKE 1; MAB21L1 CAGR1
Asterisk 601281 SEMAPHORIN 3B; SEMA3B SEMAPHORIN A; SEMAA;; SEMAPHORIN V; SEMA5
Asterisk 601282 PLECTIN; PLEC PLEC1;; PCN; PLTN
Number Sign 601283 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1; NIDDM1 NONINSULIN-DEPENDENT DIABETES MELLITUS 1
Asterisk 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE 1; ACVRL1 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;; ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1
Asterisk 601285 PROTEASOME 26S SUBUNIT SEM1; SEM1 DELETED IN SPLIT-HAND/SPLIT-FOOT 1 REGION; DSS1
Caret 601286 MOVED TO 115700
Number Sign 601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F
Asterisk 601288 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, ZETA ISOFORM; YWHAZ BRAIN PROTEIN 14-3-3, ZETA ISOFORM;; 14-3-3-ZETA
Asterisk 601289 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, BETA ISOFORM; YWHAB BRAIN PROTEIN 14-3-3, BETA ISOFORM;; 14-3-3-BETA
Asterisk 601290 STRATIFIN; SFN 14-3-3-SIGMA
Asterisk 601291 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 8; UGT8 UDP GLYCOSYLTRANSFERASE 8;; UDP-GALACTOSE CERAMIDE GALACTOSYLTRANSFERASE; CGT;; CEREBROSIDE SYNTHASE
Asterisk 601292 SULFOTRANSFERASE FAMILY 1A, CYTOSOLIC, PHENOL-PREFERRING, MEMBER 2; SULT1A2 SULFOTRANSFERASE, PHENOL-PREFERRING 2; STP2;; PHENOL SULFOTRANSFERASE 2
Asterisk 601293 RAS HOMOLOG ENRICHED IN BRAIN; RHEB RAS HOMOLOG ENRICHED IN BRAIN 2, FORMERLY; RHEB2, FORMERLY
Caret 601294 REMOVED FROM DATABASE
Asterisk 601295 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 2; SLC10A2 SODIUM/TAUROCHOLATE COTRANSPORTING POLYPEPTIDE, ILEAL; NTCP2;; ILEAL SODIUM/BILE SALT TRANSPORTER; ISBT;; APICAL SODIUM/BILE SALT TRANSPORTER; ASBT;; APICAL SODIUM-DEPENDENT BILE ACID TRANSPORTER
Asterisk 601296 MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK RECEPTOR TYROSINE KINASE NSK2, MOUSE, HOMOLOG OF; NSK2
Asterisk 601297 SRY-BOX 15; SOX15 SOX20;; SOX26;; SOX27
Caret 601298 MOVED TO 102576
Asterisk 601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3; ACVRLK3;; ACTIVIN RECEPTOR-LIKE KINASE 3; ALK3
Asterisk 601300 ACTIVIN A RECEPTOR, TYPE IB; ACVR1B ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;; ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4
Asterisk 601301 PEPTIDYL-PROLYL ISOMERASE-LIKE 1; PPIL1 CYCLOPHILIN-RELATED GENE 1; CYPL1
Asterisk 601302 PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, ALPHA; PPP3R1 CALCINEURIN B, TYPE 1; CNB1;; CNB
Asterisk 601303 CYTOSKELETON-ASSOCIATED PROTEIN 1; CKAP1 CKAPI
Asterisk 601304 SMALL NUCLEAR RIBONUCLEOPROTEIN (U4/U6.U5), SNU13 HOMOLOG; SNU13 NON-HISTONE CHROMOSOME PROTEIN 2, S. CEREVISIAE, HOMOLOG-LIKE 1; NHP2L1;; NHP2-LIKE PROTEIN 1;; U4/U6-15.5K PROTEIN;; 15.5K
Asterisk 601305 5-HYDROXYTRYPTAMINE RECEPTOR 5A; HTR5A SEROTONIN 5-HT-5A RECEPTOR
Asterisk 601306 HEMATOPOIETIC CELL-SPECIFIC LYN SUBSTRATE 1; HCLS1 HS1
Caret 601307 MOVED TO 600924
Percent 601308 MYELOID TUMOR SUPPRESSOR MYELOID LEUKEMIA-RELATED LOCUS; MLRL
Asterisk 601309 PATCHED, DROSOPHILA, HOMOLOG OF, 1; PTCH1 PTCH;; PTC
Asterisk 601310 CYTOCHROME P450, SUBFAMILY IVA, POLYPEPTIDE 11; CYP4A11 OMEGA-HYDROXYLASE, FATTY ACID;; CYP4AII
Asterisk 601311 STEROL O-ACYLTRANSFERASE 2; SOAT2 ACYL-CoA:CHOLESTEROL ACYLTRANSFERASE 2; ACACT2;; ACAT2
Caret 601312 MOVED TO 600408
Asterisk 601313 POLYCYSTIN 1; PKD1 PKD1 GENE;; PBP
Asterisk 601314 HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 1; HINT1 HINT;; PROTEIN KINASE C INHIBITOR 1; PRKCNH1;; PROTEIN KINASE C-INTERACTING PROTEIN 1; PKCI1
NULL 601315 EPITHELIAL BASOLATERAL CHLORIDE CONDUCTANCE REGULATOR, RABBIT, HOMOLOG OF EBCR
Number Sign 601316 DEAFNESS, AUTOSOMAL DOMINANT 10; DFNA10
Number Sign 601317 DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11
Percent 601318 DIABETES MELLITUS, INSULIN-DEPENDENT, 13; IDDM13 INSULIN-DEPENDENT DIABETES MELLITUS 13
NULL 601319 ODONTOMICRONYCHIAL DYSPLASIA ECTODERMAL DYSPLASIA, NAIL/TOOTH TYPE
Caret 601320 MOVED TO 601984
Number Sign 601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS NOONAN-NEUROFIBROMATOSIS SYNDROME;; NEUROFIBROMATOSIS WITH NOONAN PHENOTYPE
NULL 601322 PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS
Asterisk 601323 NUCLEOBINDIN 1; NUCB1 NUC
Asterisk 601324 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D; HNRNPD HNRPD;; AU-RICH ELEMENT RNA-BINDING PROTEIN 1, 37-KD; AUF1;; ARE-BINDING PROTEIN AUF1, TYPE A; AUF1A
Asterisk 601325 CONTACTIN 3; CNTN3 PLASMACYTOMA-ASSOCIATED NEURONAL GLYCOPROTEIN; PANG;; BIG1, RAT, HOMOLOG OF; BIG1
Asterisk 601326 CLAUDIN 11; CLDN11 OLIGODENDROCYTE TRANSMEMBRANE PROTEIN; OTM;; OLIGODENDROCYTE-SPECIFIC PROTEIN; OSP
Asterisk 601327 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, BETA SUBUNIT; SCN2B SODIUM CHANNEL, NEURONAL TYPE II, BETA SUBUNIT;; SODIUM CHANNEL, VOLTAGE-GATED, BETA-2 SUBUNIT
Asterisk 601328 SODIUM CHANNEL, NONVOLTAGE-GATED 1, DELTA SUBUNIT; SCNN1D SODIUM CHANNEL, EPITHELIAL, DELTA SUBUNIT; SCNED
Asterisk 601329 LIM DOMAIN KINASE 1; LIMK1 LIMK;; LIM KINASE
Asterisk 601330 GUANYLATE CYCLASE 2C; GUCY2C GUANYLYL CYCLASE 2C; GUC2C;; HEAT-STABLE ENTEROTOXIN RECEPTOR
Number Sign 601331 RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD
Asterisk 601332 MOHAWK HOMEOBOX; MKX IROQUOIS FAMILY-RELATED HOMEODOMAIN PROTEIN; IFRX;; IROQUOIS HOMEOBOX-LIKE 1; IRXL1
Asterisk 601333 SUPPRESSOR OF TY 6, S. CEREVISIAE, HOMOLOG OF; SUPT6H CHROMATIN STRUCTURE REGULATOR, YEAST, HOMOLOG OF; SPT6
Asterisk 601334 KINESIN LIGHT CHAIN 3; KLC3 KINESIN LIGHT CHAIN 2-LIKE; KLC2L;; KNS2B
Asterisk 601335 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 4; MAP2K4 SAPK/ERK KINASE 1; SERK1; SEK1;; PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 4; PRKMK4;; MKK4; MAPKK4;; MAPK/ERK KINASE 4; MEK4;; JNK-ACTIVATED KINASE 1; JNKK1
Asterisk 601336 MANNOSYL-OLIGOSACCHARIDE GLYCOSIDASE; MOGS GLUCOSIDASE I; GCS1
Asterisk 601337 REGULATORY FACTOR X, 3; RFX3
Number Sign 601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; CAPOS
Caret 601339 MOVED TO 601112
Asterisk 601340 MELANOMA INHIBITORY ACTIVITY PROTEIN; MIA CARTILAGE-DERIVED RETINOIC ACID-SENSITIVE PROTEIN; CDRAP
NULL 601341 ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL; AMVC VARIOLIFORM MACULAR ATROPHY OF THE SKIN
Asterisk 601342 CHROMOSOME SEGREGATION 1-LIKE; CSE1L CELLULAR APOPTOSIS SUSCEPTIBILITY; CAS;; CHROMOSOME SEGREGATION GENE CSE1, YEAST, HOMOLOG OF;; CSE1, YEAST, HOMOLOG OF
Caret 601343 MOVED TO 276821
NULL 601344 SPINAL DYSPLASIA, ANHALT TYPE
NULL 601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE ECTODERMAL DYSPLASIA, HAIR/TOOTH TYPE
Percent 601346 MARTINEZ-FRIAS SYNDROME PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA, WITH OR WITHOUT TRACHEOESOPHAGEAL FISTULA
NULL 601347 MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE, AND PSYCHOMOTOR DELAY
NULL 601348 ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA
Percent 601349 MICROPHTHALMIA, SYNDROMIC 8; MCOPS8 MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM; MMEP
NULL 601350 SHORT STATURE SYNDROME, BRUSSELS TYPE
NULL 601351 GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION
NULL 601352 MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE
Percent 601353 BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION FINE-LUBINSKY SYNDROME
Caret 601354 MOVED TO 300166
NULL 601355 MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS, AND HYPOSEGMENTED LUNGS
Percent 601356 LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE
Percent 601357 BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY; ACLH BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS
Number Sign 601358 NICOLAIDES-BARAITSER SYNDROME; NCBRS SPARSE HAIR AND MENTAL RETARDATION;; NBS
Caret 601359 MOVED TO 163200
NULL 601360 AMELIA, AUTOSOMAL RECESSIVE
Asterisk 601361 GROWTH/DIFFERENTIATION FACTOR 10; GDF10 BONE MORPHOGENETIC PROTEIN 3B; BMP3B
Percent 601362 DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME COMPLEX 2 DGS2
Percent 601363 WILMS TUMOR 4; WT4 FAMILIAL WILMS TUMOR 1; FWT1
Asterisk 601364 CADHERIN 13; CDH13 H-CADHERIN; CDHH;; CADHERIN, HEART;; T-CADHERIN
Asterisk 601365 DISHEVELLED 1; DVL1 DSH, DROSOPHILA, HOMOLOG OF, 1; DVL
Asterisk 601366 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 2; SMAD2 MADH2;; SMA- AND MAD-RELATED PROTEIN 2 MAD, DROSOPHILA, HOMOLOG OF;; MADR2
Number Sign 601367 STROKE, ISCHEMIC CEREBROVASCULAR ACCIDENT;; CEREBRAL INFARCTION
Asterisk 601368 DISHEVELLED 3; DVL3
Number Sign 601369 DEAFNESS, AUTOSOMAL DOMINANT 9; DFNA9
NULL 601370 HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS GENOA SYNDROME
NULL 601371 CATARACT, AGE-RELATED NUCLEAR NUCLEAR SCLEROSIS OF THE LENS
NULL 601372 CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT
Asterisk 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5 CC CHEMOKINE RECEPTOR 5; CCCKR5;; CMKBR5;; CKR5
NULL 601374 APROSENCEPHALY AND CEREBELLAR DYSGENESIS
NULL 601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE
NULL 601376 CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY
Caret 601377 MOVED TO 218340
Caret 601378 MOVED TO 272430
NULL 601379 HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME
Asterisk 601380 EPHRIN A4; EFNA4 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 4; EPLG4;; LIGAND OF EPH-RELATED KINASE 4; LERK4;; EFL4
Asterisk 601381 EPHRIN A3; EFNA3 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 3; EPLG3;; LIGAND OF EPH-RELATED KINASE 3; LERK3;; EFL2;; EHK1 LIGAND; EHK1L
Number Sign 601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1 CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B1;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B1;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B; CMT4B
Asterisk 601383 AQUAPORIN 6; AQP6 AQUAPORIN 2-LIKE, KIDNEY SPECIFIC; AQP2L
Asterisk 601384 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS E; LY6E RETINOIC ACID-INDUCED GENE E; RIGE;; THYMIC SHARED ANTIGEN 1; TSA1
Asterisk 601385 TUMOR SUPPRESSOR CANDIDATE 3; TUSC3 PUTATIVE PROSTATE CANCER TUMOR SUPPRESSOR;; N33;; D8S1992
Number Sign 601386 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
Asterisk 601387 TUMOR SUSCEPTIBILITY GENE 101; TSG101 VACUOLAR PROTEIN SORTING 23, YEAST, HOMOLOG OF; VPS23
Number Sign 601388 DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12 INSULIN-DEPENDENT DIABETES MELLITUS 12
NULL 601389 CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION
Number Sign 601390 VAN MALDERGEM SYNDROME 1; VMLDS1 CEREBROFACIOARTICULAR SYNDROME
Asterisk 601391 CHEMOKINE, CC MOTIF, LIGAND 13; CCL13 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 13; SCYA13;; NEW CC CHEMOKINE 1; NCC1;; MONOCYTE CHEMOTACTIC PROTEIN 4; MCP4
Asterisk 601392 CHEMOKINE, CC MOTIF, LIGAND 14; CCL14 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 14; SCYA14;; NEW CC CHEMOKINE 2; NCC2;; HEMOFILTRATE CC CHEMOKINE 1; HCC1
Asterisk 601393 CHEMOKINE, CC MOTIF, LIGAND 15; CCL15 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 15; SCYA15;; LEUKOTACTIN 1; LKN1;; NEW CC CHEMOKINE 3; NCC3;; HCC2;; MACROPHAGE INFLAMMATORY PROTEIN 5; MIP5
Asterisk 601394 CHEMOKINE, CC MOTIF, LIGAND 16; CCL16 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 16; SCYA16;; NEW CC CHEMOKINE 4; NCC4;; LIVER-EXPRESSED CHEMOKINE; LEC;; HEMOFILTRATE CC CHEMOKINE 4; HCC4;; LYMPHOCYTE AND MONOCYTE CHEMOATTRACTANT; LMC
Asterisk 601395 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 1; CCL3L1 LD78-BETA;; MACROPHAGE INFLAMMATORY PROTEIN 1-ALPHA-P;; MIP1-ALPHA-P; MIP1AP;; SMALL INDUCIBLE CYTOKINE A3-LIKE 1; SCYA3L1;; G0S19-2
Asterisk 601396 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 8B; WNT8B
Asterisk 601397 T BRACHYURY, MOUSE, HOMOLOG OF; T TRANSCRIPTION FACTOR T; TFT
Asterisk 601398 VASCULAR ENDOTHELIAL GROWTH FACTOR B; VEGFB VASCULAR ENDOTHELIAL GROWTH FACTOR-RELATED FACTOR; VRF
Number Sign 601399 PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM PLATELET DISORDER, ASPIRIN-LIKE;; THROMBOCYTOPENIA, FAMILIAL, WITH PROPENSITY TO ACUTE MYELOGENOUS LEUKEMIA; FPD/AML
Caret 601400 MOVED TO 275355
Asterisk 601401 MYELOID LEUKEMIA FACTOR 2; MLF2 MYELODYSPLASIA-MYELOID LEUKEMIA FACTOR 2
Asterisk 601402 MYELOID LEUKEMIA FACTOR 1; MLF1 MYELODYSPLASIA-MYELOID LEUKEMIA FACTOR 1
Asterisk 601403 DEDICATOR OF CYTOKINESIS 1; DOCK1 DOWNSTREAM OF CRK; DOCK;; DOWNSTREAM OF CRK, 180-KD; DOCK180;; CED5, C. ELEGANS, HOMOLOG OF
Asterisk 601404 G PROTEIN-COUPLED RECEPTOR 68; GPR68 OVARIAN CANCER G PROTEIN-COUPLED RECEPTOR 1; OGR1
Asterisk 601405 CHYMOTRYPSIN C; CTRC CALDECRIN; CLCR
Asterisk 601406 B-CELL CLL/LYMPHOMA 7A; BCL7A B-CELL CLL/LYMPHOMA 7; BCL7
Percent 601407 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2; NIDDM2 NONINSULIN-DEPENDENT DIABETES MELLITUS 2
Asterisk 601408 LYSINE ACETYLTRANSFERASE 6A; KAT6A HISTONE ACETYLTRANSFERASE MYST3; MYST3;; ZINC FINGER PROTEIN 220; ZNF220;; MONOCYTIC LEUKEMIA ZINC FINGER PROTEIN; MOZ MOZ/CBP FUSION GENE, INCLUDED;; MOZ/TIF2 FUSION GENE, INCLUDED
Asterisk 601409 LYSINE ACETYLTRANSFERASE 5; KAT5 HIV-1 TAT-INTERACTING PROTEIN; HTATIP;; TAT-INTERACTING PROTEIN, 60-KD; TIP60;; ESA1, S. CEREVISIAE, HOMOLOG OF; ESA1 PLA2-INTERACTING PROTEIN, INCLUDED; PLIP, INCLUDED
Number Sign 601410 DIABETES MELLITUS, TRANSIENT NEONATAL, 1 TNDM1;; TNDM;; DMTN
Asterisk 601411 SARCOGLYCAN, DELTA; SGCD
Percent 601412 DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7
Asterisk 601413 DEIODINASE, IODOTHYRONINE, TYPE II; DIO2 THYROXINE DEIODINASE, TYPE II; TXDI2;; D2
Number Sign 601414 RETINITIS PIGMENTOSA 18; RP18
Asterisk 601415 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG-LIKE 2; MYBL2 MYB-RELATED GENE BMYB
Asterisk 601416 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 7; SLC39A7 KE4, MOUSE, HOMOLOG OF; HKE4;; D6S2244E
Asterisk 601417 17-BETA-HYDROXYSTEROID DEHYDROGENASE VIII; HSD17B8 FabG-LIKE; FABGL;; FabG, E. COLI, HOMOLOG OF;; KE6, MOUSE, HOMOLOG OF;; HKE6;; D6S2245E;; 3-OXOACYL-ACYL CARRIER PROTEIN REDUCTASE, E. COLI, HOMOLOG OF
Asterisk 601418 RIBOSOME BINDING PROTEIN 1; RRBP1 EXTRACELLULAR MATRIX GLYCOPROTEIN ES/130, CHICKEN, HOMOLOG OF; ES130
Number Sign 601419 MYOPATHY, MYOFIBRILLAR, 1; MFM1 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED;; DESMINOPATHY, PRIMARY;; DESMIN-RELATED MYOPATHY; DRM;; MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY;; DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY;; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7, FORMERLY; ARVD7, FORMERLY;; ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 7, FORMERLY; ARVC7, FORMERLY;; INCLUSION BODY MYOPATHY 1, AUTOSOMAL DOMINANT, FORMERLY; IBM1, FORMERLY;; CARDIOMYOPATHY, DILATED, 1F AND LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D, FORMERLY;; CMD1F AND LGMD1D, FORMERLY;; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT AND MUSCULAR DYSTROPHY; CDCD3, FORMERLY
NULL 601420 MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE
Asterisk 601421 LYSYL-tRNA SYNTHETASE; KARS KRS
Asterisk 601422 LEUCINE ZIPPER PROTEIN 1; LUZP1 LUZP
Asterisk 601423 THYMINE-DNA GLYCOSYLASE; TDG
Asterisk 601424 3-OXOACID CoA TRANSFERASE 1; OXCT1 OXCT;; SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE; SCOT
Asterisk 601425 TRANSCRIPTION ELONGATION FACTOR A, 1; TCEA1 TCEA;; TFIIS; TF2S;; SII
Asterisk 601426 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 2; NR2C2 NUCLEAR HORMONE RECEPTOR TR4 TESTICULAR NUCLEAR RECEPTOR 4; TR4;; TAK1
NULL 601427 ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS
Asterisk 601428 RNA, U4ATAC SMALL NUCLEAR; RNU4ATAC RNA, U4, SMALL NUCLEAR, AT-AC FORM; U4ATAC
Asterisk 601429 RNA, U6ATAC SMALL NUCLEAR; RNU6ATAC RNA, U6, SMALL NUCLEAR, AT-AC FORM; U6ATAC
Asterisk 601430 UPF1, YEAST, HOMOLOG OF; UPF1 HUPF1;; REGULATOR OF NONSENSE TRANSCRIPTS 1; RENT1
Asterisk 601431 TRANSFER RNA ALANINE 1; TRNAA1 tRNA ALANINE
Asterisk 601432 TRANSFER RNA ARGININE 3; TRNAR3 tRNA ARGININE 3; TRR3
Caret 601433 MOVED TO 180621
Asterisk 601434 S-PHASE KINASE-ASSOCIATED PROTEIN 1; SKP1 S-PHASE KINASE-ASSOCIATED PROTEIN 1A; SKP1A;; CDK2/CYCLIN A-ASSOCIATED PROTEIN p19A;; ORGAN OF CORTI PROTEIN 2; OCP2;; TRANSCRIPTION ELONGATION FACTOR B, 1-LIKE; TCEB1L
Asterisk 601435 S-PHASE KINASE-ASSOCIATED PROTEIN 1 PSEUDOGENE 2; SKP1P2 S-PHASE KINASE-ASSOCIATED PROTEIN 1B; SKP1B;; CDK2/CYCLIN A-ASSOCIATED PROTEIN p19B
Asterisk 601436 S-PHASE KINASE-ASSOCIATED PROTEIN 2; SKP2 CDK2/CYCLIN A-ASSOCIATED PROTEIN p45;; F-BOX AND LEUCINE-RICH REPEAT PROTEIN 1; FBXL1; FBL1
Asterisk 601437 Fc FRAGMENT OF IgG, RECEPTOR TRANSPORTER, ALPHA; FCGRT IMMUNOGLOBULIN RECEPTOR, INTESTINAL, HEAVY CHAIN
NULL 601438 RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE
Asterisk 601439 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; ABCC9 SULFONYLUREA RECEPTOR 2; SUR2
Asterisk 601440 DIACYLGLYCEROL KINASE, EPSILON, 64-KD; DGKE DGK-EPSILON
Asterisk 601441 DIACYLGLYCEROL KINASE, ZETA, 104-KD: DGKZ DGK-ZETA
Asterisk 601442 COFILIN 1; CFL1 COFILIN, NONMUSCLE
Asterisk 601443 COFILIN 2; CFL2 COFILIN, MUSCLE
Asterisk 601444 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 1; BLOC1S1 BLOC1, SUBUNIT 1; BLOS1;; GCN5-LIKE 1; GCN5L1
Asterisk 601445 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 9; NDUFB9 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT B22; UQOR22
Caret 601446 MOVED TO 300707
Asterisk 601447 UBIQUITIN-SPECIFIC PROTEASE 5; USP5 ISOPEPTIDASE T; ISOT
Asterisk 601448 NUCLEAR PROTEIN, ATAXIA-TELANGIECTASIA LOCUS; NPAT E14 GENE
NULL 601449 DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION
NULL 601450 DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM HIP, CONGENITAL DISLOCATION OF, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM
Caret 601451 MOVED TO 225400
Percent 601452 OCULOAURICULOFRONTONASAL SYNDROME; OAFNS OCULOAURICULOFRONTONASAL DYSPLASIA
NULL 601453 TRICHODENTAL DYSPLASIA
Percent 601454 PSORIASIS 3, SUSCEPTIBILITY TO; PSORS3
Number Sign 601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE; HMSNL;; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4D;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4D;; HMSN4D
Asterisk 601456 MULTIMERIN 1; MMRN1 MMRN;; ENDOTHELIAL CELL MULTIMERIN; ECM
Number Sign 601457 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
Percent 601458 INFLAMMATORY BOWEL DISEASE 2; IBD2
Asterisk 601459 PREPRONOCICEPTIN; PNOC PPNOC;; N/OFQ NOCICEPTIN, INCLUDED;; NOCISTATIN, INCLUDED
Asterisk 601460 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 2A1; SLCO2A1 ORGANIC ANION TRANSPORTER 2A1; OATP2A1;; PROSTAGLANDIN TRANSPORTER; PGT;; SOLUTE CARRIER FAMILY 21 (PROSTAGLANDIN TRANSPORTER), MEMBER 2, FORMERLY; SLC21A2, FORMERLY
Asterisk 601461 ATONAL, DROSOPHILA, HOMOLOG OF, 1; ATOH1 MATH1, MOUSE, HOMOLOG OF;; ATH1;; HATH1
Number Sign 601462 MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A MYASTHENIC SYNDROME, CONGENITAL, TYPE IIa, FORMERLY; CMS2A, FORMERLY;; CMS IIa, FORMERLY
Asterisk 601463 HYALURONAN SYNTHASE 1; HAS1
Asterisk 601464 AF4/FMR2 FAMILY, MEMBER 3; AFF3 LYMPHOID NUCLEAR PROTEIN RELATED TO AF4; LAF4;; MLLT2-RELATED PROTEIN FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(2)(q11.2), INCLUDED; FRA2A, INCLUDED;; FRAGILE SITE 2q11, INCLUDED;; LAF4/MLL FUSION GENE, INCLUDED
Asterisk 601465 DEOXYGUANOSINE KINASE; DGUOK DEOXYGUANOSINE KINASE, MITOCHONDRIAL; DGK
NULL 601466 PATENT DUCTUS VENOSUS; PDV PORTOSYSTEMIC VENOUS SHUNT, CONGENITAL; PSVS
Asterisk 601467 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 1; MAD2L1 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG OF;; MAD2, S. CEREVISIAE, HOMOLOG OF
Asterisk 601468 METHIONINE ADENOSYLTRANSFERASE II, ALPHA; MAT2A MATA2;; MAT II, KIDNEY-SPECIFIC;; S-ADENOSYLMETHIONINE SYNTHETASE 2; SAMS2
Asterisk 601469 PARATHYROID HORMONE 2 RECEPTOR; PTH2R PARATHYROID HORMONE RECEPTOR 2; PTHR2
Asterisk 601470 CHEMOKINE, CX3C MOTIF, RECEPTOR 1; CX3CR1 FRACTALKINE RECEPTOR CX3CR1;; G PROTEIN-COUPLED RECEPTOR 13; GPR13;; G PROTEIN-COUPLED RECEPTOR V28; V28
Percent 601471 FACIAL PARESIS, HEREDITARY CONGENITAL, 1; HCFP1 FACIAL PALSY, CONGENITAL, UNILATERAL OR BILATERAL;; MOEBIUS SYNDROME 2, FORMERLY; MBS2, FORMERLY;; MOBIUS SYNDROME 2, FORMERLY
Number Sign 601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2D;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2D
Asterisk 601473 ZINC FINGER PROTEIN 75A; ZNF75A
Caret 601474 MOVED TO 314997
Asterisk 601475 PERIODIC TRYPTOPHAN PROTEIN 2, YEAST, HOMOLOG OF; PWP2 PWP2H
Asterisk 601476 LYSOSOME-ASSOCIATED PROTEIN, TRANSMEMBRANE 5; LAPTM5 LYSOSOME-ASSOCIATED TRANSMEMBRANE PROTEIN 5;; LYSOSOME-ASSOCIATED MULTISPANNING MEMBRANE PROTEIN 5;; RETINOIC ACID-INDUCIBLE GENE E3; E3
NULL 601477 RIBBING DISEASE DIAPHYSEAL SCLEROSIS, MULTIPLE
Asterisk 601478 MYOSIN IA; MYO1A
Asterisk 601479 MYOSIN IE; MYO1E MYOSIN IC, FORMERLY; MYO1C, FORMERLY
Asterisk 601480 MYOSIN IF; MYO1F MYOSIN ID, FORMERLY; MYO1D, FORMERLY
Asterisk 601481 MYOSIN X; MYO10
Asterisk 601482 DOWNREGULATOR OF TRANSCRIPTION 1, TBP-BINDING; DR1 TATA BOX-BINDING PROTEIN-ASSOCIATED PHOSPHOPROTEIN DR1;; NEGATIVE COFACTOR 2-BETA;; NC2-BETA
Asterisk 601483 PATERNALLY EXPRESSED GENE 3; PEG3 ZINC FINGER GENE, IMPRINTED, 2, INCLUDED; ZIM2, INCLUDED
Asterisk 601484 SELENOPROTEIN P; SELENOP SELP; SEPP;; SELENOPROTEIN P, PLASMA, 1; SEPP1
Asterisk 601485 SYNTAXIN 1B; STX1B
Asterisk 601486 DELETED IN AZOOSPERMIA-LIKE; DAZL DAZLA;; DELETED IN AZOOSPERMIA HOMOLOG; DAZH;; SPGYLA
Asterisk 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG PPARG1, INCLUDED;; PPARG2, INCLUDED;; PPARG3, INCLUDED;; PAX8/PPARG FUSION GENE, INCLUDED
Asterisk 601488 NEUTROPHIL CYTOSOLIC FACTOR 4; NCF4 NCF, 40-KD;; p40-PHOX
Asterisk 601489 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN, ACID-LABILE SUBUNIT; IGFALS IGFBP, SOLUBLE;; ACID-LABILE SUBUNIT; ALS
Asterisk 601490 NUCLEAR FACTOR ERYTHROID 2, p45 SUBUNIT; NFE2 p45
Asterisk 601491 IMPRINTED IN PRADER-WILLI SYNDROME; IPW
Number Sign 601492 MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9 MPS IX;; HYALURONIDASE DEFICIENCY
Number Sign 601493 CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1C LEFT VENTRICULAR NONCOMPACTION 3, INCLUDED; LVNC3, INCLUDED;; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24, INCLUDED; CMH24, INCLUDED
Number Sign 601494 CARDIOMYOPATHY, DILATED, 1D; CMD1D LEFT VENTRICULAR NONCOMPACTION 6, INCLUDED; LVNC6, INCLUDED
Number Sign 601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1 AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT
Asterisk 601496 GDNF FAMILY RECEPTOR ALPHA-1; GFRA1 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR RECEPTOR ALPHA; GDNFRA; GDNFR
Asterisk 601497 BCL2-ASSOCIATED ATHANOGENE 1; BAG1 RECEPTOR-ASSOCIATED PROTEIN, 46-KD; RAP46
Asterisk 601498 PEROXISOME BIOGENESIS FACTOR 6; PEX6 PEROXIN 6;; PEROXISOMAL ASSEMBLY FACTOR 2; PAF2;; PEROXISOMAL-TYPE ATPase 1; PXAAA1
Percent 601499 AXENFELD-RIEGER SYNDROME, TYPE 2; RIEG2 RIEGER SYNDROME, TYPE 2
Asterisk 601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH SMO
Asterisk 601501 VACUOLAR PROTEIN SORTING 35, YEAST, HOMOLOG OF; VPS35 MEM3, MOUSE, HOMOLOG OF; MEM3
Asterisk 601502 Fc FRAGMENT OF IgG, HIGH AFFINITY Ib, RECEPTOR FOR; FCGR1B IMMUNOGLOBULIN G Fc RECEPTOR IB; IGFRB;; CD64
Asterisk 601503 Fc FRAGMENT OF IgG, HIGH AFFINITY Ic, RECEPTOR FOR; FCGR1C IMMUNOGLOBULIN G Fc RECEPTOR IC; IGFRC;; CD64
Asterisk 601504 SEC14-LIKE 1; SEC14L1 SEC14, S. CEREVISIAE, HOMOLOG OF, 1
Asterisk 601505 ZINC FINGER PROTEIN 146; ZNF146 ONLY ZINC FINGERS; OZF
Asterisk 601506 SEPTIN 2; SEPT2 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 5; NEDD5;; DIFF6
Asterisk 601507 ADAPTOR-RELATED PROTEIN COMPLEX 3, SIGMA-1 SUBUNIT; AP3S1 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 3, 22-KD; CLAPS3;; CLATHRIN ADAPTOR COMPLEX AP3, SIGMA-3A SUBUNIT
Caret 601508 MOVED TO 168601
Asterisk 601509 GAMMA-GLUTAMYL HYDROLASE; GGH
Asterisk 601510 SREBP CLEAVAGE-ACTIVATING PROTEIN; SCAP
Asterisk 601511 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5; STAT5;; MAMMARY GLAND FACTOR; MGF
Asterisk 601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6 STAT, INTERLEUKIN 4-INDUCED;; IL4-STAT STAT6b, INCLUDED;; STAT6c, INCLUDED;; STAT6/NAB2 FUSION GENE, INCLUDED
Asterisk 601513 FIBROBLAST GROWTH FACTOR 12; FGF12 FIBROBLAST GROWTH FACTOR HOMOLOGOUS FACTOR 1; FHF1
Asterisk 601514 FIBROBLAST GROWTH FACTOR 11; FGF11 FIBROBLAST GROWTH FACTOR HOMOLOGOUS FACTOR 3; FHF3
Asterisk 601515 FIBROBLAST GROWTH FACTOR 14; FGF14 FIBROBLAST GROWTH FACTOR HOMOLOGOUS FACTOR 4; FHF4
Asterisk 601516 SPLICING FACTOR 1; SF1 ZINC FINGER PROTEIN 162; ZNF162;; ZFM1;; D11S636
Asterisk 601517 ATAXIN 2; ATXN2
Number Sign 601518 PROSTATE CANCER, HEREDITARY, 1; HPC1 PRCA1
Asterisk 601519 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT E; ATP5I F1FO-ATP SYNTHASE, MURINE e SUBUNIT GENE; ATP5K
Asterisk 601520 CHEMOKINE, CC MOTIF, LIGAND 17; CCL17 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 17; SCYA17;; THYMUS AND ACTIVATION-REGULATED CHEMOKINE; TARC
Asterisk 601521 ENDOTHELIAL CELL-SPECIFIC MOLECULE 1; ESM1
Asterisk 601522 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 7; GRB7
Asterisk 601523 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 10; GRB10 GRB-IR;; MATERNALLY EXPRESSED GENE 1; MEG1
Asterisk 601524 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 14; GRB14
Asterisk 601525 CHITINASE 3-LIKE 1; CHI3L1 CARTILAGE GLYCOPROTEIN 39; GP39;; CHONDROCYTE PROTEIN YKL40
Asterisk 601526 CHITINASE 3-LIKE 2; CHI3L2 CHONDROCYTE PROTEIN YKL39; YKL39;; CHONDROCYTE PROTEIN 39
Asterisk 601527 ARISTALESS-LIKE HOMEOBOX 1; ALX1 CARTILAGE HOMEOPROTEIN 1; CART1
Asterisk 601528 VASCULAR ENDOTHELIAL GROWTH FACTOR C; VEGFC VASCULAR ENDOTHELIAL GROWTH FACTOR-RELATED PROTEIN; VRP
Asterisk 601529 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 1; NR2C1 NUCLEAR HORMONE RECEPTOR TR2; TR2
Asterisk 601530 SEQUESTOSOME 1; SQSTM1 UBIQUITIN-BINDING PROTEIN P62; P62
Asterisk 601531 LEUKOTRIENE B4 RECEPTOR; LTB4R LTB4R1;; CHEMOKINE RECEPTOR-LIKE 1; CMKRL1;; PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 7; P2RY7;; PURINOCEPTOR P2Y7; P2Y7;; LEUKOTRIENE B4 G PROTEIN-COUPLED RECEPTOR; BLTR;; BLT1;; G PROTEIN-COUPLED RECEPTOR 16; GPR16
Asterisk 601532 CASPASE 6, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP6 APOPTOTIC CYSTEINE PROTEASE MCH2
Asterisk 601533 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 2; ADAM2 FERTILIN, BETA; FTNB;; PH30
Asterisk 601534 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 3; KCNJ3 INWARDLY RECTIFYING POTASSIUM CHANNEL KIR3.1;; GIRK1
Asterisk 601535 EPHRIN A5; EFNA5 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 7; EPLG7;; LIGAND OF EPH-RELATED KINASE 7; LERK7;; RAGS;; EFL5
Number Sign 601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS NAVAJO BRAINSTEM SYNDROME BOSLEY-SALIH-ALORAINY SYNDROME, INCLUDED; BSAS, INCLUDED
Percent 601537 MICROCEPHALY, RETINITIS PIGMENTOSA, AND SUTURAL CATARACT
Asterisk 601538 PROP PAIRED-LIKE HOMEOBOX 1; PROP1 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR
Number Sign 601539 PEROXISOME BIOGENESIS DISORDER 1B; PBD1B PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE);; PEROXISOME BIOGENESIS DISORDER (NALD/IRD);; ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL;; REFSUM DISEASE, INFANTILE;; INFANTILE PHYTANIC ACID STORAGE DISEASE
Asterisk 601540 BROMODOMAIN-CONTAINING PROTEIN 2; BRD2 FEMALE STERILE HOMEOTIC-RELATED GENE 1, MOUSE, HOMOLOG OF; FSRG1;; RING3
Asterisk 601541 BROMODOMAIN-CONTAINING PROTEIN 3; BRD3 RING3-LIKE GENE; RING3L;; OPEN READING FRAME X; ORFX
Asterisk 601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2 PITUITARY HOMEOBOX 2; PTX2;; RIEG BICOID-RELATED HOMEOBOX TRANSCRIPTION FACTOR 1; RIEG1;; RIEG;; SOLURSHIN;; ALL1-RESPONSIVE GENE 1; ARP1
Number Sign 601543 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12 DEAFNESS, AUTOSOMAL DOMINANT 8; DFNA8
Number Sign 601544 DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A
Asterisk 601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT; PAFAH1B1 LIS1 GENE; LIS1
Asterisk 601546 PROSPERO-RELATED HOMEOBOX 1; PROX1 HOMEOBOX GENE PROX1
Number Sign 601547 CATARACT 3, MULTIPLE TYPES; CTRCT3 CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2
Asterisk 601548 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1; EFEMP1 FIBRILLIN-LIKE; FBNL;; FIBULIN 3; FBLN3;; S1-5
Percent 601549 ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE
Number Sign 601550 BLOOD GROUP--SWANN SYSTEM; SW SWANN BLOOD GROUP
Number Sign 601551 BLOOD GROUP--FROESE FR;; FROESE BLOOD GROUP ANTIGEN
Number Sign 601552 FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS; FDLAB TRABOULSI SYNDROME;; ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM
Number Sign 601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD HYPOTRICHOSIS WITH CONE-ROD DYSTROPHY
Asterisk 601554 DYNEIN, LIGHT CHAIN, TCTEX TYPE, 1; DYNLT1 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1-LIKE 1; TCTEL1;; TCTE1, MOUSE, HOMOLOG OF;; TCTEX1, MOUSE, HOMOLOG OF
Asterisk 601555 RHO FAMILY GTPase 2; RND2 RAS HOMOLOG GENE FAMILY, MEMBER N; RHON;; ARHN;; GTP-BINDING PROTEIN RHO7; RHO7
Asterisk 601556 ATAXIN 1; ATXN1 ATXN1, ALTERNATIVE READING FRAME, INCLUDED;; ALT-ATXN1, INCLUDED
Asterisk 601557 ACETYL-CoA CARBOXYLASE-BETA; ACACB ACCB;; ACETYL-CoA CARBOXYLASE 2; ACC2
Asterisk 601558 RNA-BINDING PROTEIN GENE WITH MULTIPLE SPLICING; RBPMS
Number Sign 601559 STUVE-WIEDEMANN SYNDROME STWS; SWS;; SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;; SCHWARTZ-JAMPEL SYNDROME, NEONATAL;; STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME
NULL 601560 MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH ROBIN PHENOTYPE
NULL 601561 DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA
Asterisk 601562 DYNEIN, LIGHT CHAIN, LC8 TYPE, 1; DYNLL1 DYNEIN, CYTOPLASMIC, LIGHT CHAIN 1; DNCL1; DLC1;; PROTEIN INHIBITOR OF NEURONAL NOS; PIN;; LC8
NULL 601563 HORNS IN SHEEP HO
Asterisk 601564 PROTEASE, SERINE, 2; PRSS2 TRYPSINOGEN 2; TRY2;; TRYPSINOGEN, ANIONIC TRYPSIN 2, INCLUDED
Asterisk 601565 INTERFERON REGULATORY FACTOR 8; IRF8 INTERFERON CONSENSUS SEQUENCE-BINDING PROTEIN 1; ICSBP1; ICSBP
Asterisk 601566 INHIBITOR OF GROWTH 1; ING1 p33ING1
Asterisk 601567 LECTIN, MANNOSE-BINDING, 1; LMAN1 INTRACELLULAR MANNOSE SPECIFIC LECTIN; MR60;; ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT 53; ERGIC53
Asterisk 601568 ADDUCIN 3; ADD3 ADDUCIN, GAMMA;; ADDUCIN-LIKE; ADDL ADD3/NUP98 FUSION GENE, INCLUDED
Asterisk 601569 UBIQUITIN-CONJUGATING ENZYME E2G 1; UBE2G1 UBE2G;; UBC7, C. ELEGANS, HOMOLOG OF
Asterisk 601570 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A
Asterisk 601571 CAPPING PROTEIN, ALPHA-2; CAPZA2 CAP PROTEIN, ACTIN, ALPHA-2 SUBUNIT; CAPPA2
Asterisk 601572 CAPPING PROTEIN, BETA; CAPZB CAP PROTEIN, ACTIN, BETA; CAPPB
Asterisk 601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2 ENX1
Asterisk 601574 TAF15 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 68-KD; TAF15 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2N; TAF2N;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 68-KD;; RNA-BINDING PROTEIN 56; RBP56 RBP56/NR4A3 FUSION GENE, INCLUDED
Asterisk 601575 FOS-LIKE ANTIGEN 2; FOSL2 FOS-RELATED ANTIGEN 2; FRA2
Asterisk 601576 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, SIGMA; PTPRS RPTP-SIGMA
Asterisk 601577 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C POLYPEPTIDE-ASSOCIATED PROTEIN; PTPRCAP PTPRC-ASSOCIATED PROTEIN;; LYMPHOCYTE PHOSPHATASE-ASSOCIATED PHOSPHOPROTEIN; LPAP
Asterisk 601578 CYCLIN G1; CCNG1 CYCLIN G; CCNG
Asterisk 601579 ORNITHINE DECARBOXYLASE ANTIZYME 1; OAZ1 OAZ;; ANTIZYME 1
Asterisk 601580 CAPPING PROTEIN, ALPHA-1; CAPZA1 CAP PROTEIN, ACTIN, ALPHA-1 SUBUNIT; CAPPA1
Asterisk 601581 NEURONAL CELL ADHESION MOLECULE; NRCAM KIAA0343
Asterisk 601582 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D SH2-CONTAINING INOSITOL PHOSPHATASE; SHIP;; SHIP1
Number Sign 601583 WILMS TUMOR 5; WT5 WILMS TUMOR, SUSCEPTIBILITY TO; WTSL
Asterisk 601584 PROTEIN-TYROSINE PHOSPHATASE, TYPE 4A, 2; PTP4A2 PTP4A;; PTP(CAAX2);; OV1;; PHOSPHATASE OF REGENERATING LIVER 2; PRL2;; HH13;; HH7-2
Asterisk 601585 PROTEIN-TYROSINE PHOSPHATASE, TYPE 4A, 1; PTP4A1 PHOSPHATASE OF REGENERATING LIVER 1; PRL1;; PTP(CAAX1)
Asterisk 601586 PROSTAGLANDIN E RECEPTOR 4, EP4 SUBTYPE; PTGER4 EP4R
Caret 601587 MOVED TO 300939
Caret 601588 MOVED TO 152445
Asterisk 601589 RAS p21 PROTEIN ACTIVATOR 2; RASA2 GTPase-ACTIVATING PROTEIN OF RAS; GAP1M
Asterisk 601590 ENVOPLAKIN; EVPL
Asterisk 601591 PROTEIN KINASE, cGMP-DEPENDENT, TYPE II; PRKG2 PRKGR2;; cGK, TYPE II;; cGKII
Asterisk 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN RAPSYN
Asterisk 601593 BRCA1-ASSOCIATED RING DOMAIN 1; BARD1
Asterisk 601594 JUMONJI, AT-RICH INTERACTIVE DOMAIN 2; JARID2 JUMONJI; JMJ
Asterisk 601595 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 1; SMAD1 MAD, DROSOPHILA, HOMOLOG OF;; MADH1;; SMA- AND MAD-RELATED PROTEIN 1;; MADR1;; TGF-BETA SIGNALING PROTEIN 1; BSP1
Number Sign 601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4C
Asterisk 601597 B-CELL TRANSLOCATION GENE 2; BTG2 PHEOCHROMOCYTOMA CELL 3; PC3
Asterisk 601598 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, DELTA; PTPRD PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, D;; PROTEIN-TYROSINE PHOSPHATASE-DELTA; PTPD
Asterisk 601599 SARCOSPAN; SSPN SPN1;; K-RAS ONCOGENE-ASSOCIATED GENE; KRAG;; KIRSTEN-RAS-ASSOCIATED GENE;; DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 25-KD;; DAGA5
Asterisk 601600 ETS VARIANT GENE 5; ETV5 ETS-RELATED MOLECULE; ERM
Asterisk 601601 TRANSCRIPTION FACTOR AP2-BETA; TFAP2B
Asterisk 601602 TRANSCRIPTION FACTOR AP2-GAMMA; TFAP2C ESTROGEN RECEPTOR FACTOR 1; ERF1
Asterisk 601603 LYMPHOCYTE CYTOSOLIC PROTEIN 2; LCP2 SH2 DOMAIN-CONTAINING LEUKOCYTE PROTEIN, 76-KD; SLP76
Asterisk 601604 INTERLEUKIN 12 RECEPTOR, BETA-1; IL12RB1 IL12RB;; CD212
Caret 601605 MOVED TO 601448
Number Sign 601606 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 MFT1;; EPITHELIOMA ADENOIDES CYSTICUM OF BROOKE; EAC;; EPITHELIOMA, HEREDITARY MULTIPLE BENIGN CYSTIC;; BROOKE-FORDYCE TRICHOEPITHELIOMAS
Asterisk 601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY B, MEMBER 1; SMARCB1 SNF5, YEAST, HOMOLOG OF; SNF5;; INTEGRASE INTERACTOR 1; INI1;; MALIGNANT RHABDOID TUMOR SUPPRESSOR
NULL 601608 SPASTIC PARAPLEGIA AND EVANS SYNDROME
Asterisk 601609 3-HYDROXYACYL-CoA DEHYDROGENASE; HADH HAD;; HADSC, FORMERLY;; HADHSC, FORMERLY;; SCHAD, FORMERLY
Asterisk 601610 BUTYROPHILIN, SUBFAMILY 1, MEMBER A1; BTN1A1 BTN
Asterisk 601611 SOLUTE CARRIER FAMILY 14 (UREA TRANSPORTER), MEMBER 2; SLC14A2 UREA TRANSPORTER, RENAL; UTR;; UREA TRANSPORTER 2; UT2;; UREA TRANSPORTER A, MOUSE, HOMOLOG OF; UTA
Percent 601612 LUNG AGENESIS, CONGENITAL HEART DEFECTS, AND THUMB ANOMALIES SYNDROME; LACHT MARDINI-NYHAN ASSOCIATION
Asterisk 601613 CHEMOKINE, CXC MOTIF, RECEPTOR 5; CXCR5 BURKITT LYMPHOMA RECEPTOR 1; BLR1
Asterisk 601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1 NETRIN 1-LIKE; NTN1L
Asterisk 601615 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ABCA3 ATP-BINDING CASSETTE 3; ABC3;; ATP-BINDING CASSETTE TRANSPORTER 3;; ABC TRANSPORTER 3;; CED7, C. ELEGANS, HOMOLOG OF
Percent 601616 IRIS PIGMENT EPITHELIUM ANOMALIES RUFFLES AND CYSTS OF IRIS PIGMENT EPITHELIUM;; CYSTS OF IRIS PIGMENT EPITHELIUM
Asterisk 601617 RETINOL DEHYDROGENASE 5; RDH5 RETINOL DEHYDROGENASE, 11-CIS;; RETINOL DEHYDROGENASE 1, FORMERLY; RDH1, FORMERLY
Asterisk 601618 SRY-BOX 18; SOX18
Asterisk 601619 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR; RALGDS
Asterisk 601620 T-BOX 5; TBX5
Asterisk 601621 T-BOX 3; TBX3
Asterisk 601622 TWIST, DROSOPHILA, HOMOLOG OF, 1; TWIST1 TRANSCRIPTION FACTOR TWIST; TWIST
Asterisk 601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A HUMAN PAPILLOMAVIRUS E6-ASSOCIATED PROTEIN; E6AP
Asterisk 601624 FICOLIN 2; FCN2 L-FICOLIN; FCNL;; COLLAGEN/FIBRINOGEN DOMAIN-CONTAINING LECTIN 2 P35;; OPSONIN P35
Asterisk 601625 ADP-RIBOSYLTRANSFERASE 1; ART1 ART2, FORMERLY
Number Sign 601626 LEUKEMIA, ACUTE MYELOID; AML LEUKEMIA, ACUTE MYELOGENOUS LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO, INCLUDED
Asterisk 601627 SURVIVAL OF MOTOR NEURON 2; SMN2 SURVIVAL OF MOTOR NEURON, CENTROMERIC COPY; SMNC;; C-BCD541
Caret 601628 MOVED TO 111730
Asterisk 601629 PURKINJE CELL PROTEIN 4; PCP4 PEP19
Caret 601630 MOVED TO 600274
Number Sign 601631 ANTERIOR SEGMENT DYSGENESIS 3; ASGD3 IRIDOGONIODYSGENESIS, TYPE 1; IRID1;; IRIDOGONIODYSGENESIS ANOMALY, AUTOSOMAL DOMINANT; IGDA;; IRIS HYPOPLASIA WITH GLAUCOMA;; GLAUCOMA IRIDOGONIODYSPLASIA, FAMILIAL
Asterisk 601632 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 1; POU4F1 POU-DOMAIN TRANSCRIPTION FACTOR BRN3A; BRN3A;; BRN3.0, MOUSE, HOMOLOG OF
Asterisk 601633 N-ETHYLMALEIMIDE-SENSITIVE FACTOR; NSF
Number Sign 601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS NTD, FOLATE-SENSITIVE SPINA BIFIDA, FOLATE-SENSITIVE, INCLUDED
Caret 601635 MOVED TO 608317
Asterisk 601636 HYALURONAN SYNTHASE 2; HAS2
Asterisk 601637 CYTOCHROME P450, FAMILY 51, SUBFAMILY A, POLYPEPTIDE 1; CYP51A1 CYP51;; LANOSTEROL 14-ALPHA-DEMETHYLASE
Asterisk 601638 ADP-RIBOSYLATION FACTOR-INTERACTING PROTEIN 2; ARFIP2 ARFAPTIN 2;; PARTNER OF RAC1; POR1
Asterisk 601639 PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, ALPHA; PRKACA PROTEIN KINASE A, C-ALPHA SUBUNIT PRKACA/DNAJB1 FUSION GENE, INCLUDED
Caret 601640 MOVED TO 601314
Asterisk 601641 ACYL-CoA OXIDASE 2, BRANCHED-CHAIN; ACOX2 ACYL-CoA OXIDASE, BRANCHED-CHAIN, PEROXISOMAL;; BRANCHED-CHAIN ACYL-CoA OXIDASE; BRCACOX; BCOX
Asterisk 601642 INTERLEUKIN 12 RECEPTOR, BETA-2; IL12RB2
Asterisk 601643 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), ALPHA; PPP2R5A
Asterisk 601644 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), BETA; PPP2R5B
Asterisk 601645 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), GAMMA; PPP2R5C
Asterisk 601646 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), DELTA; PPP2R5D
Asterisk 601647 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), EPSILON; PPP2R5E
Asterisk 601648 PROTEASOME 26S SUBUNIT, NON-ATPase, 4; PSMD4 PROTEASE 26S, SUBUNIT 5A; S5A;; RPN10
Caret 601649 MOVED TO 101400
Number Sign 601650 PARAGANGLIOMAS 2; PGL2 GLOMUS TUMORS, FAMILIAL, 2
Asterisk 601651 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 4; NAP1L4 NUCLEOSOME ASSEMBLY PROTEIN 2-LIKE; NAP2L;; NAP2
Asterisk 601652 MYOCILIN; MYOC TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN; TIGR
Asterisk 601653 EYES ABSENT 1; EYA1 EYES ABSENT, DROSOPHILA, HOMOLOG OF, 1
Asterisk 601654 EYES ABSENT 2; EYA2 EYES ABSENT, DROSOPHILA, HOMOLOG OF, 2
Asterisk 601655 EYES ABSENT 3; EYA3 EYES ABSENT, DROSOPHILA, HOMOLOG OF, 3
Asterisk 601656 GATA-BINDING PROTEIN 6; GATA6
Asterisk 601657 EPIPHYCAN; EPYC DERMATAN SULFATE PROTEOGLYCAN 3; DSPG3
Asterisk 601658 OTOCONIN 90; OC90 PLA2-LIKE, INCLUDED; PLA2L, INCLUDED
Asterisk 601659 ES1, ZEBRAFISH, HOMOLOG OF; ES1 HES1;; CHROMOSOME 21 OPEN READING FRAME 33; C21ORF33;; D21S2048E;; KNPI;; GT335
Caret 601660 MOVED TO 601150
Asterisk 601661 UBIQUITIN-CONJUGATING ENZYME E2I; UBE2I UBIQUITIN-CONJUGATING ENZYME UBC9, YEAST, HOMOLOG OF; UBC9
Asterisk 601662 ACTIVATED LEUKOCYTE CELL ADHESION MOLECULE; ALCAM CD166
Asterisk 601663 ESTROGEN RECEPTOR 2; ESR2 ESTROGEN RECEPTOR, BETA; ESRB;; ESR-BETA;; ER-BETA
Asterisk 601664 SMALL NUCLEAR RIBONUCLEOPROTEIN, 200-KD; SNRNP200 ACTIVATING SIGNAL COINTEGRATOR I COMPLEX SUBUNIT 3-LIKE 1; ASCC3L1;; U5 snRNP-SPECIFIC PROTEIN, 200-KD;; BRR2, YEAST, HOMOLOG OF;; U5-200KD;; KIAA0788
Number Sign 601665 OBESITY LEANNESS, INCLUDED
Percent 601666 DIABETES MELLITUS, INSULIN-DEPENDENT, 15; IDDM15 INSULIN-DEPENDENT DIABETES MELLITUS 15
Asterisk 601667 ANGIOPOIETIN 1; ANGPT1 ANG1
NULL 601668 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION; SEMDAD
Caret 601669 MOVED TO 602229
Asterisk 601670 D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 1; DPF1 NEURO-D4, RAT, HOMOLOG OF; NEUD4;; BRG1-ASSOCIATED FACTOR, 45-KD, B; BAF45B
Asterisk 601671 D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 2; DPF2 REQUIEM, APOPTOSIS RESPONSE ZINC FINGER GENE; REQ;; UBI-D4/REQUIEM HOMOLOG; UBID4
Asterisk 601672 D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 3; DPF3 CER-D4, MOUSE, HOMOLOG OF; CERD4
Asterisk 601673 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 2; ELAVL2 HOMOLOG OF DROSOPHILA ELAV-LIKE NEURONAL PROTEIN; HELN1;; HU-ANTIGEN B; HUB
Asterisk 601674 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 1; EZH1
Number Sign 601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP;; ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION;; TAY SYNDROME;; TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS; ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY;; PIBIDS SYNDROME
Percent 601676 ACUTE INSULIN RESPONSE AIR
Asterisk 601677 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 5; NDUFA5 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT B13; UQOR13;; B13
Number Sign 601678 BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1 HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL;; HYPERPROSTAGLANDIN E SYNDROME 1
Asterisk 601679 GENERAL TRANSCRIPTION FACTOR II-I; GTF2I BTK-ASSOCIATED PROTEIN, 135-KD; BAP135;; BRUTON TYROSINE KINASE-ASSOCIATED PROTEIN 135;; TFII-I
Number Sign 601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B;; SHELDON-HALL SYNDROME; SHS;; FREEMAN-SHELDON SYNDROME VARIANT; FSSV;; ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES
Asterisk 601681 PROTEASOME 26S SUBUNIT, ATPase, 5; PSMC5 THYROID HORMONE RECEPTOR INTERACTOR 1; TRIP1
Percent 601682 GLAUCOMA 1, PRIMARY OPEN ANGLE, C; GLC1C
Asterisk 601683 COQ7, S. CEREVISIAE, HOMOLOG OF; COQ7 CLK1, C. ELEGANS, HOMOLOG OF
Asterisk 601684 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 1; RPS6KA1 RIBOSOMAL S6 KINASE 1; RSK1;; MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 1A; MAPKAPK1A;; MAPKAP KINASE 1A
Asterisk 601685 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 2; RPS6KA2 RIBOSOMAL S6 KINASE 3; RSK3;; MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 1C; MAPKAPK1C;; MAPKAP KINASE 1C
Asterisk 601686 TELOMERASE-ASSOCIATED PROTEIN 1; TEP1 TELOMERASE PROTEIN COMPONENT 1
Asterisk 601687 KERATIN 12, TYPE I; KRT12 K12;; KA12;; CYTOKERATIN 12
Asterisk 601688 15-HYDROXYPROSTAGLANDIN DEHYDROGENASE; HPGD 15-HYDROXYPROSTAGLANDIN DEHYDROGENASE, TYPE I; PGDH1;; PGDH
Asterisk 601689 TAF4B RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 105-KD; TAF4B TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR C2; TAF2C2;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 105-KD; TAFII105
Asterisk 601690 PHOSPHOLIPASE A2, GROUP VII; PLA2G7 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE; PAFAH;; PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, PLASMA;; LIPOPROTEIN-ASSOCIATED PHOSPHOLIPASE A2;; LP-PLA2;; LDL-PLA2
Asterisk 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4 ATP-BINDING CASSETTE TRANSPORTER, RETINA-SPECIFIC; ABCR;; ABC TRANSPORTER, RETINA-SPECIFIC;; PHOTORECEPTOR RIM PROTEIN; RMP
Asterisk 601692 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI BETA-IG-H3; BIGH3;; KERATOEPITHELIN
Asterisk 601693 UNCOUPLING PROTEIN 2; UCP2
Percent 601694 LEPTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; LEPQTL1 LSL
Asterisk 601695 CASEIN, KAPPA; CSN3 CSN10;; CSNK;; KCA
NULL 601696 NOVELTY SEEKING PERSONALITY TRAIT RISK-TAKING BEHAVIOR, INCLUDED
Asterisk 601697 SERPIN FAMILY B, MEMBER 8; SERPINB8 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 8;; PROTEASE INHIBITOR 8; PI8;; CYTOPLASMIC ANTIPROTEINASE 2; CAP2
Asterisk 601698 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, N, POLYPEPTIDE 2; PTPRN2 ISLET CELL ANTIGEN-RELATED PROTEIN-TYROSINE PHOSPHATASE;; IA2-BETA, MOUSE, HOMOLOG OF; IAR;; ICAAR;; PHOGRIN;; KIAA0387
Asterisk 601699 PROSTAGLANDIN I2 SYNTHASE; PTGIS PGIS;; PROSTACYCLIN SYNTHASE;; CYP8;; CYP8A1
Percent 601700 SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE
NULL 601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA TRICHOOCULODERMOVERTEBRAL SYNDROME;; TODV SYNDROME;; ALVES SYNDROME
Asterisk 601702 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 1; ROCK1 p160-ROCK;; RHO KINASE
Asterisk 601703 VASODILATOR-STIMULATED PHOSPHOPROTEIN; VASP
Asterisk 601704 CHEMOKINE, CXC MOTIF, LIGAND 9; CXCL9 MONOKINE INDUCED BY GAMMA INTERFERON; MIG;; SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 9; SCYB9
Number Sign 601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY
NULL 601706 YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
Number Sign 601707 CURRY-JONES SYNDROME; CRJS CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT
NULL 601708 SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL
Number Sign 601709 QUEBEC PLATELET DISORDER; QPD BLEEDING DISORDER, PLATELET-TYPE, 5; BDPLT5;; FACTOR V QUEBEC
Asterisk 601710 EUKARYOTIC TRANSLATION INITIATION FACTOR 5; EIF5
Asterisk 601711 TNF RECEPTOR-ASSOCIATED FACTOR 1; TRAF1 EPSTEIN-BARR VIRUS-INDUCED mRNA 6; EBI6
Asterisk 601712 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 2; BIRC2 APOPTOSIS INHIBITOR 1; API1;; HIAP2;; CIAP1;; MAMMALIAN IAP HOMOLOG B; MIHB
Asterisk 601713 GLIA MATURATION FACTOR, BETA; GMFB GLIA MATURATION FACTOR; GMF
Asterisk 601714 TEA DOMAIN FAMILY MEMBER 4; TEAD4 TRANSCRIPTION FACTOR 13-LIKE 1; TCF13L1;; TRANSCRIPTIONAL ENHANCER FACTOR 1-RELATED GENE; RTEF1;; TRANSCRIPTIONAL ENHANCER FACTOR 3; TEF3
Caret 601715 MOVED TO 601582
Asterisk 601716 STAUFEN, DROSOPHILA, HOMOLOG OF, 1; STAU1 STAU;; STAUFEN-LIKE
Asterisk 601717 SYNTAXIN-BINDING PROTEIN 2; STXBP2 UNC18, C. ELEGANS, HOMOLOG OF, 2;; UNC18B;; MUNC18-2
Number Sign 601718 RETINITIS PIGMENTOSA 19; RP19
Asterisk 601719 T-BOX 4; TBX4
Asterisk 601720 ANTIGENIC DETERMINANT OF RECOMBINATION PROTEIN A, MOUSE, HOMOLOG OF; KIN ANTIGENIC DETERMINANT OF RECA, MOUSE, HOMOLOG OF;; KIN17;; BINDING TO CURVED DNA; BTCD
Asterisk 601721 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 3; BIRC3 APOPTOSIS INHIBITOR 2; API2;; HIAP1;; CIAP2;; MAMMALIAN IAP HOMOLOG C; MIHC API2/MALT1 FUSION GENE, INCLUDED
Caret 601722 MOVED TO 601712
Asterisk 601723 FRIZZLED, DROSOPHILA, HOMOLOG OF, 5; FZD5 FRIZZLED 5
Asterisk 601724 NEUROGENIC DIFFERENTIATION 1; NEUROD1 NEUROD;; BETA-CELL E-BOX TRANSACTIVATOR 2; BETA2
Asterisk 601725 NEUROGENIC DIFFERENTIATION 2; NEUROD2
Asterisk 601726 NEUROGENIN 1; NEUROG1 NGN1;; NEUROGENIC DIFFERENTIATION 3; NEUROD3
Caret 601727 MOVED TO 601714
Plus 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN PTEN1;; MUTATED IN MULTIPLE ADVANCED CANCERS 1; MMAC1;; PHOSPHATASE AND TENSIN HOMOLOG DELETED ON CHROMOSOME 10 PTEN HAMARTOMA TUMOR SYNDROME, INCLUDED; PHTS, INCLUDED;; PTEN HAMARTOMA TUMOR SYNDROME WITH GRANULAR CELL TUMOR, INCLUDED
Asterisk 601729 TEA DOMAIN FAMILY MEMBER 2; TEAD2 TRANSCRIPTIONAL ENHANCER FACTOR 4; TEF4
Asterisk 601730 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS C PROTEIN; PIGC GPI2, YEAST, HOMOLOG OF
Asterisk 601731 5-AMINOIMIDAZOLE-4-CARBOXAMIDE RIBONUCLEOTIDE FORMYLTRANSFERASE/IMP CYCLOHYDROLASE; ATIC AICARFT/IMPCHASE;; AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE;; PURH
Asterisk 601732 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY C, MEMBER 1; SMARCC1 MAMMALIAN CHROMATIN REMODELING COMPLEX, BRG1-ASSOCIATED FACTOR 155;; BRG1-ASSOCIATED FACTOR, 155-KD; BAF155;; CHROMATIN REMODELING COMPLEX BAF155 SUBUNIT;; SWI3, YEAST, HOMOLOG OF
Asterisk 601733 GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 2; MGST2 GST2
Asterisk 601734 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY C, MEMBER 2; SMARCC2 MAMMALIAN CHROMATIN REMODELING COMPLEX, BRG1-ASSOCIATED FACTOR 170;; BRG1-ASSOCIATED FACTOR, 170-KD; BAF170;; CHROMATIN REMODELING COMPLEX BAF170 SUBUNIT;; SWI3, YEAST, HOMOLOG OF
Asterisk 601735 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY D, MEMBER 1; SMARCD1 MAMMALIAN CHROMATIN REMODELING COMPLEX, BRG1-ASSOCIATED FACTOR 60A;; BRG1-ASSOCIATED FACTOR, 60-KD, A; BAF60A;; CHROMATIN REMODELING COMPLEX BAF60A SUBUNIT;; SWP73, YEAST, HOMOLOG OF
Asterisk 601736 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY D, MEMBER 2; SMARCD2 MAMMALIAN CHROMATIN REMODELING COMPLEX, BRG1-ASSOCIATED FACTOR 60B;; BRG1-ASSOCIATED FACTOR, 60-KD, B; BAF60B;; CHROMATIN REMODELING COMPLEX BAF60B SUBUNIT;; SWP73, YEAST, HOMOLOG OF
Asterisk 601737 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY D, MEMBER 3; SMARCD3 MAMMALIAN CHROMATIN REMODELING COMPLEX, BRG1-ASSOCIATED FACTOR 60C;; BRG1-ASSOCIATED FACTOR, 60-KD, C; BAF60C;; CHROMATIN REMODELING COMPLEX BAF60C SUBUNIT;; SWP73 YEAST, HOMOLOG OF
Asterisk 601738 EXOSTOSIN-LIKE GLYCOSYLTRANSFERASE 1; EXTL1 EXOSTOSIN-LIKE 1;; MULTIPLE EXOSTOSES-LIKE 1;; EXTL
Asterisk 601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1 MEIS1 HOMEOBOX PROTEIN
Asterisk 601740 MEIS1, MOUSE, HOMOLOG OF, 2; MEIS2 MEIS1-RELATED GENE 1; MRG1
Asterisk 601741 CULLIN 5; CUL5 VASOPRESSIN-ACTIVATED CALCIUM-MOBILIZING RECEPTOR 1; VACM1
Asterisk 601742 TRIPARTITE MOTIF-CONTAINING PROTEIN 28; TRIM28 KRAB-ASSOCIATED PROTEIN 1; KAP1;; TRANSCRIPTIONAL INTERMEDIARY FACTOR 1-BETA; TIF1B
Asterisk 601743 ONCOSTATIN M RECEPTOR; OSMR ONCOSTATIN M-SPECIFIC RECEPTOR, BETA; OSMRB
Number Sign 601744 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1 SYSTEMIC LUPUS ERYTHEMATOSUS, RESISTANCE TO, 1, INCLUDED
Asterisk 601745 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 1; KCNK1 POTASSIUM CHANNEL, WEAKLY INWARD-RECTIFYING, WITH TWIN P DOMAINS, 1; TWIK1;; K2P1
Asterisk 601746 HYPOXIA UP-REGULATED 1; HYOU1 OXYGEN-REGULATED PROTEIN, 150-KD; ORP150
Asterisk 601747 TRIPARTITE MOTIF-CONTAINING PROTEIN 23; TRIM23 ADP-RIBOSYLATION FACTOR DOMAIN PROTEIN 1; ARFD1; ARD1;; ARF DOMAIN PROTEIN 1
Asterisk 601748 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 2; GTF2H2 TRANSCRIPTION FACTOR IIH, 44-KD SUBUNIT
Asterisk 601749 GLOMULIN; GLMN FKBP-ASSOCIATED PROTEIN, 48-KD; FAP48;; FKBP-ASSOCIATED PROTEIN, 68-KD; FAP68
Asterisk 601750 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 3; GTF2H3 TRANSCRIPTION FACTOR IIH, 34-KD SUBUNIT;; TFB4
Asterisk 601751 MELANIN-CONCENTRATING HORMONE RECEPTOR 1; MCHR1 G PROTEIN-COUPLED RECEPTOR 24; GPR24;; SLC1;; MCHR
Asterisk 601752 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 1; ENTPD1 CD39 ANTIGEN; CD39;; VASCULAR ATP DIPHOSPHOHYDROLASE; ATPDase;; APYRASE
Asterisk 601753 PEPTIDYL-PROLYL ISOMERASE D; PPID CYCLOPHILIN D; CYPD;; CYCLOPHILIN 40; CYP40
Asterisk 601754 UBIQUITIN FUSION DEGRADATION 1-LIKE; UFD1L
Asterisk 601755 ESS2 SPLICING FACTOR, XENOPUS, HOMOLOG OF; ESS2 DIGEORGE SYNDROME CRITICAL REGION GENE DGSI; DGSI;; DIGEORGE SYNDROME CRITICAL REGION GENE 14; DGCR14;; ES2
Asterisk 601756 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3; GALNT3 GalNAc TRANSFERASE 3; GalNAcT3;; POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3
Asterisk 601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7 PEROXIN 7;; PEROXISOMAL PTS2 RECEPTOR
Asterisk 601758 PEROXISOME BIOGENESIS FACTOR 12; PEX12 PEROXIN 12
NULL 601759 PREAXIAL HALLUCAL POLYDACTYLY
Asterisk 601760 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 4; GTF2H4 TRANSCRIPTION FACTOR IIH, 52-KD SUBUNIT;; TFB2
Asterisk 601761 CASPASE 7, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP7 MCH3
Asterisk 601762 CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP10 MCH4 CASPASE 10, ISOFORM B, INCLUDED; CASP10B, INCLUDED;; FADD-LIKE ICE 2, INCLUDED; FLICE2, INCLUDED
Asterisk 601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8 MORT1-ASSOCIATED CED3 HOMOLOG; MACH;; FADD-HOMOLOGOUS ICE/CED3-LIKE PROTEASE;; FADD-LIKE ICE; FLICE;; MCH5
Percent 601764 SEIZURES, BENIGN FAMILIAL INFANTILE, 1; BFIS1 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1; BFIC1
Caret 601765 MOVED TO 601542
Asterisk 601766 FRIZZLED, DROSOPHILA, HOMOLOG OF, 9; FZD9 FRIZZLED, DROSOPHILA, HOMOLOG OF, 3; FZD3
Asterisk 601767 HUNTINGTIN-INTERACTING PROTEIN 1; HIP1 HIP1/PDGFRB FUSION GENE, INCLUDED
Asterisk 601768 SH3 DOMAIN, GRB2-LIKE, 1; SH3GL1 SH3p8;; EXTRA ELEVEN-NINETEEN LEUKEMIA FUSION GENE; EEN;; EEN FUSION PARTNER OF MLL;; ENDOPHILIN 2;; ENDOPHILIN A2 EEN/MLL FUSION GENE, INCLUDED
Asterisk 601769 VITAMIN D RECEPTOR; VDR 1,25-DIHYDROXYVITAMIN D3 RECEPTOR;; VITAMIN D HORMONE RECEPTOR
Asterisk 601770 NEUROPEPTIDE Y RECEPTOR Y6; NPY6R PP2;; Y2B
Asterisk 601771 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1 P4501B1
Asterisk 601772 H2A HISTONE FAMILY, MEMBER X; H2AFX H2AX HISTONE;; H2AX
Asterisk 601773 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, N; PTPRN ISLET CELL ANTIGEN 512; ICA512;; INSULINOMA-ASSOCIATED PROTEIN 2; IA2;; ISLET ANTIGEN 2
Asterisk 601774 ALPHA-1,6-MANNOSYL-GLYCOPROTEIN BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE; MGAT5 N-ACETYLGLUCOSAMINYLTRANSFERASE V;; GNT-V;; GNT-VA
NULL 601775 FOLATE LEVEL IN ERYTHROCYTES
Number Sign 601776 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1 EDSMC;; ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME;; EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY; EDS6B, FORMERLY;; ADDUCTED THUMB-CLUBFOOT SYNDROME; ATCS;; DUNDAR SYNDROME;; ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS
Number Sign 601777 CONE-ROD DYSTROPHY 6; CORD6 RETINAL CONE DYSTROPHY 2; RCD2
Asterisk 601778 POLYMERASE, RNA, MITOCHONDRIAL; POLRMT MTRNAP POLYMERASE, RNA, NUCLEAR, SINGLE-POLYPEPTIDE, IV, INCLUDED; SPRNAPIV, INCLUDED
Caret 601779 MOVED TO 258450
Number Sign 601780 CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6 CEROID LIPOFUSCINOSIS, NEURONAL, 6, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT, INCLUDED; vLINCL, INCLUDED
Caret 601781 MOVED TO 194554
Asterisk 601782 TESTIS-SPECIFIC PROTEIN KINASE 1; TESK1
Asterisk 601783 MICROTUBULE-ASSOCIATED PROTEIN 6; MAP6 MTAP6;; STABLE TUBULE-ONLY POLYPEPTIDE; STOP;; KIAA1878
Asterisk 601784 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 1; ACCN1 ACID-SENSING ION CHANNEL 2; ASIC2;; BRAIN SODIUM CHANNEL 1; BNAC1;; BNC1;; SODIUM CHANNEL, NONVOLTAGE-GATED, NEURONAL, 1;; MAMMALIAN DEGENERIN; MDEG
Asterisk 601785 PHOSPHOMANNOMUTASE 2; PMM2
Asterisk 601786 PHOSPHOMANNOMUTASE 1; PMM1
Asterisk 601787 TAF5 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 100-KD; TAF5 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2D; TAF2D;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 100-KD; TAFII100
Asterisk 601788 MYOSTATIN; MSTN GROWTH/DIFFERENTIATION FACTOR 8; GDF8
Asterisk 601789 PEROXISOME BIOGENESIS FACTOR 13; PEX13 PEROXIN 13
Asterisk 601790 PANCREATIC POLYPEPTIDE RECEPTOR 1; PPYR1 Y4;; NPY4R;; PP1
Asterisk 601791 PEROXISOME BIOGENESIS FACTOR 14; PEX14 PEROXIN 14;; NFE2-ASSOCIATED POLYPEPTIDE 2; NAPP2
Asterisk 601792 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 2; PPP1R2 PHOSPHATASE INHIBITOR 2; IPP2
Caret 601793 MOVED TO 600724
Percent 601794 COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME
Asterisk 601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3 PROTEIN KINASE, MITOGEN-ACTIVATED, 3; PRKM3;; EXTRACELLULAR SIGNAL-REGULATED KINASE 1; ERK1;; p44ERK1;; p44MAPK
Asterisk 601796 TAF4 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 135-KD; TAF4 TAF4A RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 135-KD; TAF4A;; TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR C1; TAF2C1;; TAF2C;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 130-KD; TAFII130;; TAFII135
Asterisk 601797 ABSENT IN MELANOMA 1; AIM1
Asterisk 601798 GLUCOSAMINE-6-PHOSPHATE DEAMINASE 1; GNPDA1 GNP1;; GNPI;; OSCILLIN, HAMSTER, HOMOLOG OF;; KIAA0060
Asterisk 601799 PROTEASE INHIBITOR 9, OVALBUMIN TYPE; PI9 CYTOPLASMIC ANTIPROTEINASE 3; CAP3;; SERPIN FAMILY B, MEMBER 9; SERPINB9
Number Sign 601800 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;; SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING;; SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYE COLOR;; EYE COLOR 1; EYCL1;; EYE COLOR, GREEN/BLUE; GEY MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8, INCLUDED
Asterisk 601801 TRANSCRIPTION FACTOR Sp2; SP2 SPECIFICITY PROTEIN 2
Asterisk 601802 HOMEOBOX GENE EXPRESSED IN ES CELLS; HESX1 RATHKE POUCH HOMEOBOX; RPX
Number Sign 601803 PALLISTER-KILLIAN SYNDROME; PKS TETRASOMY 12p, MOSAIC;; ISOCHROMOSOME 12p SYNDROME HEXASOMY 12p, MOSAIC, INCLUDED
Asterisk 601804 TRANSCRIPTION FACTOR Sp3; SP3 SP3/EWS FUSION GENE, INCLUDED
Asterisk 601805 G PROTEIN-COUPLED ESTROGEN RECEPTOR; GPER G PROTEIN-COUPLED RECEPTOR 30; GPR30;; CHEMOKINE RECEPTOR-LIKE 2; CMKRL2
Asterisk 601806 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 6; MCM6 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6 REGULATORY ELEMENT, CIS-ACTING, ENHANCER, 14 KB UPSTREAM OF LCT, INCLUDED;; LACTASE REGULATORY ELEMENT, INCLUDED
Asterisk 601807 MATRIX METALLOPROTEINASE 19; MMP19 MATRIX METALLOPROTEINASE 18, FORMERLY; MMP18, FORMERLY
Number Sign 601808 CHROMOSOME 18q DELETION SYNDROME CHROMOSOME 18q- SYNDROME;; 18q- SYNDROME
NULL 601809 SPONDYLOSPINAL THORACIC DYSOSTOSIS
Asterisk 601810 DNA REPLICATION HELICASE 2, YEAST, HOMOLOG OF; DNA2 DNA2-LIKE; DNA2L;; KIAA0083
NULL 601811 PREMATURE AGING SYNDROME, OKAMOTO TYPE
Number Sign 601812 PREMATURE AGING SYNDROME, PENTTINEN TYPE; PENTT
Number Sign 601813 EXUDATIVE VITREORETINOPATHY 4; EVR4
Asterisk 601814 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 2; FXYD2 SODIUM-POTASSIUM-ATPase, GAMMA-1 POLYPEPTIDE; ATP1G1
Number Sign 601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD PHGDH DEFICIENCY
Number Sign 601816 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; BILIQTL1
Asterisk 601817 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 3; NME3 NONMETASTATIC CELLS 3, PROTEIN EXPRESSED IN;; DR-NM23;; NONMETASTATIC PROTEIN 23, HOMOLOG OF; NM23H3
Asterisk 601818 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 4; NME4 NONMETASTATIC CELLS 4, PROTEIN EXPRESSED IN;; NONMETASTATIC PROTEIN 23, HOMOLOG 4; NM23H4;; METASTASIS INHIBITION FACTOR NM23H4;; NUCLEOSIDE DIPHOSPHATE KINASE D; NDPKD
Asterisk 601819 BROMODOMAIN PHD FINGER TRANSCRIPTION FACTOR; BPTF FETAL ALZHEIMER ANTIGEN; FALZ;; FAC1;; NURF301, DROSOPHILA, HOMOLOG OF; NURF301;; BROMODOMAIN AND PHD DOMAIN TRANSCRIPTION FACTOR
Number Sign 601820 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2 PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PHHI;; HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT;; HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA;; HYPERINSULINISM, NEONATAL;; HYPERINSULINISM, CONGENITAL;; HYPERINSULINISM, FAMILIAL;; NESIDIOBLASTOSIS
Asterisk 601821 RNA, Y1 SMALL CYTOPLASMIC; RNY1 RNA POLYMERASE III TRANSCRIPT 1; Y1
Asterisk 601822 RNA, Y3 SMALL CYTOPLASMIC; RNY3 RNA POLYMERASE III TRANSCRIPT 3; Y3
Asterisk 601823 RNA, Y4 SMALL CYTOPLASMIC; RNY4 RNA POLYMERASE III TRANSCRIPT 4; Y4
Asterisk 601824 RNA, Y5 SMALL CYTOPLASMIC; RNY5 RNA POLYMERASE III TRANSCRIPT 5; Y5
Asterisk 601825 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7; NDUFS7 NADH-COENZYME Q REDUCTASE, 20-KD;; COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 20-KD SUBUNIT;; PSST
Asterisk 601826 DIACYLGLYCEROL KINASE, DELTA, 130-KD; DGKD KIAA0145;; DGK ISOZYME, 130-KD;; DGK-DELTA
Caret 601827 MOVED TO 601659
Asterisk 601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2 NUCLEAR RECEPTOR-RELATED 1; NURR1;; NUCLEAR RECEPTOR OF T CELLS; NOT;; TRANSCRIPTIONALLY INDUCIBLE NUCLEAR RECEPTOR; TINUR
NULL 601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE
Caret 601830 MOVED TO 601770
Asterisk 601831 HISTONE GENE CLUSTER 2, H2B HISTONE FAMILY, MEMBER E; HIST2H2BE HISTONE GENE CLUSTER 2, H2BE;; HIST2 CLUSTER, H2BE;; H2B HISTONE FAMILY, MEMBER Q; H2BFQ;; H2B/Q;; H2B.1
Asterisk 601832 RIBOSOMAL PROTEIN L29; RPL29 HP/HS-INTERACTING PROTEIN; HIP;; HEPARIN/HEPARAN SULFATE-BINDING PROTEIN
Asterisk 601833 ALLOGRAFT INFLAMMATORY FACTOR 1; AIF1 INTERFERON RESPONSE TRANSCRIPT 1; IRT1;; IBA1
Asterisk 601834 CHEMOKINE, CC MOTIF, RECEPTOR 8; CCR8 CHEMOKINE, CC MOTIF, RECEPTOR-LIKE 2; CMKBRL2;; CHEMOKINE RECEPTOR-LIKE 1; CKRL1;; CMKBR8
Asterisk 601835 CHEMOKINE, CC MOTIF, RECEPTOR 6; CCR6 CHEMOKINE RECEPTOR-LIKE 3; CKRL3;; G PROTEIN-COUPLED RECEPTOR 29; GPR29;; GPRCY4;; STRL22;; CMKBR6
Asterisk 601836 KINESIN-ASSOCIATED PROTEIN 3; KIFAP3 KAP3;; smg GDS-ASSOCIATED PROTEIN; SMAP
Asterisk 601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4 DNA LIGASE IV
Asterisk 601838 INOSITOL 1,3,4-TRISPHOSPHATE 5/6-KINASE; ITPK1 ITRPK1
Asterisk 601839 EPHRIN RECEPTOR EphB3; EPHB3 EPH-LIKE TYROSINE KINASE 2; ETK2;; HUMAN EMBRYO KINASE 2; HEK2;; TYRO6
Caret 601840 MOVED TO 600286
Asterisk 601841 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 5; SERPINA5 PROTEIN C INHIBITOR; PCI
Caret 601842 MOVED TO 601543
Asterisk 601843 SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5; SLC5A5 SODIUM-IODIDE SYMPORTER; NIS
Asterisk 601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; WNK4 PRKWNK4
Asterisk 601845 GOOSECOID HOMEOBOX 2; GSC2 GOOSECOID-LIKE; GSCL
Percent 601846 VACUOLAR NEUROMYOPATHY MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES; MDRV
Number Sign 601847 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2
Asterisk 601848 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 20, S. CEREVISIAE, HOMOLOG OF; TOMM20 TOM20;; MAS20, S. CEREVISIAE, HOMOLOG OF; MAS20;; KIAA0016
Caret 601849 MOVED TO 228930
Caret 601850 MOVED TO 500004
Asterisk 601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK CLOCK, MOUSE, HOMOLOG OF
Asterisk 601852 INTERCELLULAR ADHESION MOLECULE 5; ICAM5 TELENCEPHALIN; TLCN; TLN
Percent 601853 GOMEZ-LOPEZ-HERNANDEZ SYNDROME; GLHS CEREBELLOTRIGEMINAL DERMAL DYSPLASIA CEREBELLO-TRIGEMINAL-DERMAL DYSPLASIA
Asterisk 601854 DIACYLGLYCEROL KINASE, GAMMA, 90-KD; DGKG DIACYLGLYCEROL KINASE, GAMMA; DAGK3;; DAGK, 90-KD;; DGK-GAMMA
Asterisk 601855 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; ARHGEF1 GUANINE NUCLEOTIDE EXCHANGE FACTOR, 115-KD;; p115-RhoGEF;; LSC, MOUSE, HOMOLOG OF; LSC
Asterisk 601856 ZINC FINGER PROTEIN 211; ZNF211
Caret 601857 MOVED TO 601056
Asterisk 601858 CALMEGIN; CLGN
Number Sign 601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS CANALE-SMITH SYNDROME;; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, INCLUDED; ALPS1A, INCLUDED;; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, INCLUDED; ALPS1B, INCLUDED;; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE, INCLUDED
Asterisk 601860 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4 17-BETA-HSD IV;; D-3-HYDROXYACYL-CoA DEHYDRATASE/D-3-HYDROXYACYL-CoA DEHYDROGENASE BIFUNCTIONAL PROTEIN;; D-BIFUNCTIONAL PROTEIN, PEROXISOMAL;; DBP, PEROXISOMAL;; MULTIFUNCTIONAL PROTEIN 2; MFP2
Asterisk 601861 REGULATORY FACTOR X-ASSOCIATED PROTEIN; RFXAP RFX-ASSOCIATED PROTEIN
Caret 601862 MOVED TO 104160
Asterisk 601863 REGULATORY FACTOR X, 5; RFX5
Caret 601864 MOVED TO 177060
Asterisk 601865 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 2; PLOD2 LYSYL HYDROXYLASE 2; LH2;; LYSINE HYDROXYLASE 2;; TELOPEPTIDE LYSYL HYDROXYLASE; TLH
Asterisk 601866 SEMAPHORIN 4D; SEMA4D SEMAPHORIN J; SEMAJ;; LEUKOCYTE ACTIVATION ANTIGEN CD100; CD100;; COLLAPSIN 4; COLL4
Asterisk 601867 ATPase, Na+/K+ TRANSPORTING, BETA-3 POLYPEPTIDE; ATP1B3 Na,K-ATPase BETA-3 POLYPEPTIDE
Number Sign 601868 DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13
Number Sign 601869 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15 DEAFNESS, AUTOSOMAL RECESSIVE 72; DFNB72;; DEAFNESS, AUTOSOMAL RECESSIVE 95; DFNB95
Asterisk 601870 METHIONINE AMINOPEPTIDASE 2; METAP2 EUKARYOTIC INITIATION FACTOR 2-ASSOCIATED PROTEIN, 67-KD;; p67
Asterisk 601871 CYSTEINE- AND GLYCINE-RICH PROTEIN 2; CSRP2 CYSTEINE-RICH PROTEIN 2; CRP2;; LIM DOMAIN ONLY, SMOOTH MUSCLE;; LIM DOMAIN ONLY 5; LMO5
Asterisk 601872 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 2; SLC7A2 AMINO ACID TRANSPORTER, CATIONIC 2; ATRC2;; CATIONIC AMINO ACID TRANSPORTER 2; CAT2
Asterisk 601873 BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE 1; B4GALNT1 BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE; GALGT;; GalNAcT;; GM2/GD2 SYNTHASE
Asterisk 601874 ELONGATION FACTOR, RNA POLYMERASE II, 2; ELL2
Caret 601875 MOVED TO 601630
NULL 601876 SPERM-SPECIFIC ANTIGEN 1; SSFA1 FERTILIZATION ANTIGEN 1; FA1
Plus 601877 LEFT-RIGHT DETERMINATION FACTOR 2; LEFTY2 ENDOMETRIAL BLEEDING-ASSOCIATED FACTOR; EBAF;; LEFT-RIGHT DETERMINATION, FACTOR A; LEFTA;; LEFTY A;; LEFTY2, MOUSE, HOMOLOG OF;; TRANSFORMING GROWTH FACTOR, BETA-4; TGFB4 LEFT-RIGHT AXIS MALFORMATIONS, INCLUDED
Asterisk 601878 KRUPPEL-LIKE FACTOR 10; KLF10 TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE EARLY GROWTH RESPONSE; TIEG TGFB-INDUCIBLE EARLY GROWTH RESPONSE;; TGF-BETA-INDUCIBLE EARLY GENE;; ZINC FINGER TRANSCRIPTION FACTOR TIEG;; TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE EARLY GROWTH RESPONSE 1; TIEG1;; EARLY GROWTH RESPONSE-ALPHA
Asterisk 601879 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 9; LGALS9 GALECTIN 9 ECALECTIN, INCLUDED
Asterisk 601880 CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1 SMALL INDUCIBLE CYTOKINE SUBFAMILY D, MEMBER 1; SCYD1;; NEUROTACTIN; NTT; NTN;; FRACTALKINE
Asterisk 601881 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX GENE; RAX RX HOMEOBOX GENE; RX
Asterisk 601882 DNA FRAGMENTATION FACTOR, 45-KD, ALPHA SUBUNIT; DFFA DFF1;; DFF45;; INHIBITOR OF CASPASE-ACTIVATED DNase; ICAD
Asterisk 601883 DNA FRAGMENTATION FACTOR, 40-KD, BETA SUBUNIT; DFFB DFF2;; DFF40;; DEOXYRIBONUCLEASE III, CASPASE-ACTIVATED;; CASPASE-ACTIVATED DNase; CAD
Number Sign 601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1 HIGH BONE MASS, INCLUDED; HBM, INCLUDED;; OSTEOPOROSIS, SUSCEPTIBILITY TO, INCLUDED
Number Sign 601885 CATARACT 14, MULTIPLE TYPES; CTRCT14 CATARACT, ZONULAR PULVERULENT 3; CZP3;; CAE3
Asterisk 601886 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 2; ASCL2 ACHAETE-SCUTE HOMOLOG 2; ASH2; HASH2
Number Sign 601887 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 MHS5
Percent 601888 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 6 MHS6
Asterisk 601889 NEUROBEACHIN PSEUDOGENE 1; NBEAP1 B-CELL CLL/LYMPHOMA 8; BCL8;; B-CELL LEUKEMIA 8
Asterisk 601890 PROTEIN-TYROSINE KINASE PTK7; PTK7 COLON CARCINOMA KINASE-4
Asterisk 601891 CYSTATIN 6; CST6 CYSTATIN M;; CYSTATIN M/E
Asterisk 601892 KARYOPHERIN ALPHA-3; KPNA3 IMPORTIN ALPHA-4
Asterisk 601893 TRIPLE FUNCTIONAL DOMAIN; TRIO
Number Sign 601894 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2; GFND2 GLOMERULAR NEPHRITIS, FAMILIAL, WITH FIBRONECTIN DEPOSITS;; FIBRONECTIN GLOMERULOPATHY
Asterisk 601895 TNF RECEPTOR-ASSOCIATED FACTOR 2; TRAF2 TNF RECEPTOR-ASSOCIATED PROTEIN; TRAP
Asterisk 601896 TNF RECEPTOR-ASSOCIATED FACTOR 3; TRAF3 CD40-BINDING PROTEIN; CD40BP;; LMP1-ASSOCIATED PROTEIN 1; LAP1;; CD40-ASSOCIATED PROTEIN 1; CAP1;; CD40 RECEPTOR-ASSOCIATED FACTOR 1; CRAF1
Asterisk 601897 ZINC FINGER PROTEIN 148; ZNF148 ZINC-BINDING PROTEIN 89; ZBP89;; HT-BETA;; ZFP148
Asterisk 601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR
Asterisk 601899 SIGNAL-TRANSDUCING ADAPTOR MOLECULE 1; STAM SIGNAL-TRANSDUCING ADAPTOR MOLECULE;; STAM1
Asterisk 601900 INTERFERON REGULATORY FACTOR 4; IRF4 LYMPHOCYTE-SPECIFIC IRF; LSIRF;; MULTIPLE MYELOMA ONCOGENE 1; MUM1
Asterisk 601901 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER A2; SLC8A2 SODIUM-CALCIUM EXCHANGER 2; NCX2;; KIAA1087
Asterisk 601902 ORIGIN RECOGNITION COMPLEX, SUBUNIT 1, S. CEREVISIAE, HOMOLOG OF; ORC1 ORC1-LIKE; ORC1L
Asterisk 601903 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B17; UGT2B17 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B17;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B17
Caret 601904 MOVED TO 300899
Asterisk 601905 RAB GERANYLGERANYL TRANSFERASE, ALPHA SUBUNIT; RABGGTA
Asterisk 601906 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10B; WNT10B
Asterisk 601907 NEOGENIN; NEO1 NGN
Asterisk 601908 G PROTEIN-COUPLED RECEPTOR 20; GPR20
Asterisk 601909 G PROTEIN-COUPLED RECEPTOR 21; GPR21
Asterisk 601910 G PROTEIN-COUPLED RECEPTOR 22; GPR22
Asterisk 601911 DISTAL-LESS HOMEOBOX 4; DLX4 DISTAL-LESS HOMEOBOX 7, INCLUDED; DLX7, INCLUDED;; BETA PROTEIN 1, INCLUDED; BP1, INCLUDED
Asterisk 601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1 UBIQUITIN-LIKE 1; UBL1;; SMT3, YEAST, HOMOLOG 3; SMT3H3;; SMT3C;; SENTRIN;; PIC1
Asterisk 601913 arsA ARSENITE TRANSPORTER, ATP-BINDING, E. COLI, HOMOLOG OF, 1; ASNA1 ARSA1;; TRANSMEMBRANE DOMAIN RECOGNITION COMPLEX, 40-KD; TRC40
Asterisk 601914 PROLINE-ARGININE-RICH END LEUCINE-RICH REPEAT PROTEIN; PRELP
Asterisk 601915 TISSUE INHIBITOR OF METALLOPROTEINASE 4; TIMP4
Asterisk 601916 ARGININE-RICH PROTEIN MUTATED IN EARLY STAGE TUMORS; ARMET ARGININE-RICH PROTEIN; ARP;; MESENCEPHALIC ASTROCYTE-DERIVED NEUROTROPHIC FACTOR; MANF
Asterisk 601917 ALDEHYDE DEHYDROGENASE 3 FAMILY, MEMBER B2; ALDH3B2 ALDEHYDE DEHYDROGENASE 8; ALDH8;; ACETALDEHYDE DEHYDROGENASE 8
Asterisk 601918 GROWTH/DIFFERENTIATION FACTOR 9; GDF9
Asterisk 601919 COAGULATION FACTOR II RECEPTOR-LIKE 2; F2RL2 THROMBIN RECEPTOR-LIKE 2;; PROTEASE-ACTIVATED RECEPTOR 3; PAR3
Plus 601920 JAGGED 1; JAG1 JAGL1 DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON, INCLUDED
Caret 601921 MOVED TO 156535
Asterisk 601922 ANGIOPOIETIN 2; ANGPT2 ANG2
Caret 601923 MOVED TO 601124
Asterisk 601924 COATOMER PROTEIN COMPLEX, SUBUNIT ALPHA; COPA ALPHA COAT PROTEIN COATOMER PROTEIN COMPLEX, INCLUDED; COPI, INCLUDED
Asterisk 601925 RHO GDP-DISSOCIATION INHIBITOR ALPHA; ARHGDIA RHOGDI;; GDP-DISSOCIATION INHIBITOR, APLYSIA RAS-RELATED 1; GDIA1
Asterisk 601926 THYROID HORMONE-RESPONSIVE SPOT14, RAT, HOMOLOG OF; THRSP S14
Percent 601927 LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES IRONS-BIANCHI SYNDROME;; LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND CHARACTERISTIC FACIES
Asterisk 601928 KERATIN 86, TYPE II; KRT86 K86;; KB26;; K2.11;; KERATIN, HAIR, BASIC, 6; KRTHB6;; KERATIN, HARD, TYPE II, 6; HB6
Asterisk 601929 ATPase, Ca(2+)-TRANSPORTING, UBIQUITOUS; ATP2A3 SARCOPLASMIC RETICULUM Ca(2+)-ATPase 3; SERCA3
Asterisk 601930 BASONUCLIN 1; BNC1 BNC
Asterisk 601931 BCL2-LIKE 2; BCL2L2 BCLW
Asterisk 601932 MUCIN 8, TRACHEOBRONCHIAL; MUC8
Asterisk 601933 CRYPTOCHROME 1; CRY1 PHOTOLYASE 1; PHLL1
Asterisk 601934 G PROTEIN PATHWAY SUPPRESSOR 1; GPS1 FUS6/COP11, ARABIDOPSIS, HOMOLOG OF;; COP9 SIGNALOSOME, SUBUNIT 1; COPS1; CSN1
Asterisk 601935 G PROTEIN PATHWAY SUPPRESSOR 2; GPS2
Asterisk 601936 PRKC, APOPTOSIS, WT1, REGULATOR; PAWR PROSTATE APOPTOSIS RESPONSE PROTEIN 4; PAR4;; TRANSCRIPTIONAL REPRESSOR PAR4;; WT1-INTERACTING PROTEIN
Asterisk 601937 NUCLEAR RECEPTOR COACTIVATOR 3; NCOA3 AMPLIFIED IN BREAST CANCER 1; AIB1;; ACTR;; THYROID HORMONE RECEPTOR ACTIVATOR MOLECULE 1; TRAM1;; STEROID RECEPTOR COACTIVATOR 3; SRC3;; RAC3
Caret 601938 MOVED TO 600523
Asterisk 601939 PROTEIN KINASE, SERINE/ARGININE-SPECIFIC, 1; SRPK1 PROTEIN KINASE, ARGININE/SERINE-RICH SPLICING FACTOR, 1;; SFRS PROTEIN KINASE 1
Asterisk 601940 SPLICING FACTOR, SERINE/ARGININE-RICH, 4; SRSF4 SERINE/ARGININE-RICH SPLICING FACTOR 4;; SPLICING FACTOR, ARGININE/SERINE-RICH, 4; SFRS4;; SPLICING FACTOR, ARGININE/SERINE-RICH, 75-KD; SRp75
Percent 601941 DIABETES MELLITUS, INSULIN-DEPENDENT, 6; IDDM6 INSULIN-DEPENDENT DIABETES MELLITUS 6 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 5, INCLUDED; AITD5, INCLUDED
Number Sign 601942 DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10 INSULIN-DEPENDENT DIABETES MELLITUS 10
Asterisk 601943 SPLICING FACTOR, SERINE/ARGININE-RICH, 9; SRSF9 SERINE/ARGININE-RICH SPLICING FACTOR 9;; SPLICING FACTOR, ARGININE/SERINE-RICH, 9; SFRS9;; SPLICING FACTOR, ARGININE/SERINE-RICH, 30-KD, C; SRp30c
Asterisk 601944 SPLICING FACTOR, SERINE/ARGININE-RICH, 6; SRSF6 SERINE/ARGININE-RICH SPLICING FACTOR 6;; SPLICING FACTOR, ARGININE/SERINE-RICH, 6; SFRS6;; SPLICING FACTOR, ARGININE/SERINE-RICH, 55-KD; SRp55
Asterisk 601945 SPLICING FACTOR, SUPPRESSOR-OF-WHITE-APRICOT FAMILY; SFSWAP SPLICING FACTOR, ARGININE/SERINE-RICH, 8; SFRS8;; SUPPRESSOR-OF-WHITE-APRICOT, DROSOPHILA, HOMOLOG OF; SWAP
Caret 601946 MOVED TO 601531
Asterisk 601947 SRY-BOX 12; SOX12 SRY-BOX 22; SOX22
Caret 601948 MOVED TO 601784
Asterisk 601949 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT; CACNB4
Asterisk 601950 ZINC FINGER PROTEIN, MULTITYPE 1; ZFPM1 FRIEND OF GATA1; FOG;; FOG1
Asterisk 601951 CDC-LIKE KINASE 1; CLK1 CLK;; CDC28/CDC2-LIKE KINASE;; PROTEIN-TYROSINE KINASE STY; STY;; CLK/STY
Number Sign 601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA; KLICK KLICK SYNDROME
Asterisk 601953 CYCLIN H; CCNH CDK-ACTIVATING KINASE;; CYCLIN-DEPENDENT KINASE-ACTIVATING KINASE; CAK
Number Sign 601954 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G
Asterisk 601955 CYCLIN-DEPENDENT KINASE 7; CDK7 CELL DIVISION PROTEIN KINASE 7;; MO15, XENOPUS, HOMOLOG OF;; SERINE/THREONINE PROTEIN KINASE 1; STK1;; KINASE SUBUNIT OF CAK; CAK1
Asterisk 601956 GDNF FAMILY RECEPTOR ALPHA-2; GFRA2 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR RECEPTOR BETA; GDNFRB
NULL 601957 ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME OTUDP SYNDROME
Asterisk 601958 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-3 SUBUNIT; CACNB3 CALCIUM CHANNEL, L TYPE, BETA-3 POLYPEPTIDE; CACNLB3
Asterisk 601959 NEVER IN MITOSIS GENE A-RELATED KINASE 4; NEK4 NIMA-RELATED KINASE 4; NRK2;; SERINE/THREONINE PROTEIN KINASE 2; STK2
Asterisk 601960 CHEMOKINE, CC MOTIF, LIGAND 20; CCL20 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 20; SCYA20;; EXODUS 1;; MACROPHAGE INFLAMMATORY PROTEIN 3-ALPHA; MIP3A;; LARC
Asterisk 601961 PROTEIN ARGININE METHYLTRANSFERASE 2; PRMT2 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 1; HRMT1L1;; HMT1-LIKE 1
Asterisk 601962 TAP-BINDING PROTEIN; TAPBP TAPASIN; TPSN; TPN
Asterisk 601963 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 1; TTC1 TPR1
Asterisk 601964 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 7; DNAJC7 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 2; TTC2;; TPR2;; DJ11
Asterisk 601965 SPHINGOSINE-1-PHOSPHATE RECEPTOR 3; S1PR3 ENDOTHELIAL DIFFERENTIATION GENE 3; EDG3;; S1P RECEPTOR 3; S1P3
Asterisk 601966 REGULATORY SOLUTE CARRIER PROTEIN, FAMILY 1, MEMBER 1; RSC1A1 RS1
Asterisk 601967 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7B; WNT7B
Asterisk 601968 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2B; WNT2B XWNT2, XENOPUS, HOMOLOG OF;; WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 13, FORMERLY; WNT13, FORMERLY
Asterisk 601969 DELETED IN MALIGNANT BRAIN TUMORS 1; DMBT1 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D-BINDING PROTEIN;; GLYCOPROTEIN 340;; GP340
Asterisk 601970 VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 2; VIPR2
Caret 601971 MOVED TO 600825
Asterisk 601972 RAR-RELATED ORPHAN RECEPTOR B; RORB RAR-RELATED ORPHAN RECEPTOR BETA;; RZR-BETA; RZRB;; RETINOIC ACID-BINDING RECEPTOR BETA
Asterisk 601973 RETINOIC ACID RECEPTOR RESPONDER 2; RARRES2 TAZAROTENE-INDUCED GENE 2; TIG2;; CHEMERIN
Asterisk 601974 SPHINGOSINE-1-PHOSPHATE RECEPTOR 1; S1PR1 ENDOTHELIAL DIFFERENTIATION GENE 1;; EDG1 S1P RECEPTOR 1; S1P1
Asterisk 601975 PLAKOPHILIN 1; PKP1
NULL 601976 OTOFACIOOSSEOUS-GONADAL SYNDROME
Number Sign 601977 THROMBOCYTHEMIA 2; THCYT2
Asterisk 601978 SIGMA NONOPIOID INTRACELLULAR RECEPTOR 1; SIGMAR1 SIGMA RECEPTOR, TYPE 1;; SR31747A-BINDING PROTEIN; SRBP
NULL 601979 HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION
Asterisk 601980 LIPASE, GASTRIC; LIPF GASTRIC TRIACYLGLYCEROL LIPASE
Asterisk 601981 RIBONUCLEASE, RNase A FAMILY, 6; RNASE6 RNase k6
Asterisk 601982 8-OXOGUANINE DNA GLYCOSYLASE; OGG1 8-HYDROXYGUANINE DNA GLYCOSYLASE
Asterisk 601983 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 1; MAP4K1 HEMATOPOIETIC PROGENITOR KINASE 1; HPK1
Asterisk 601984 NUCLEAR RECEPTOR COACTIVATOR 4; NCOA4 RET-ACTIVATING GENE ELE1; ELE1;; ANDROGEN RECEPTOR COACTIVATOR, 70-KD; ARA70 PTC3 CHIMERIC ONCOGENE, INCLUDED
Asterisk 601985 COILED-COIL DOMAIN-CONTAINING PROTEIN 6; CCDC6 H4 GENE;; D10S170;; TRANSFORMING SEQUENCE, THYROID 1; TST1 PTC1 CHIMERIC ONCOGENE, INCLUDED;; H4/RET FUSION GENE, INCLUDED;; H4/PDGFRB FUSION GENE, INCLUDED
Caret 601986 MOVED TO 601698
Asterisk 601987 CARNITINE PALMITOYLTRANSFERASE I, MUSCLE; CPT1B CPT IB;; CPT I, MUSCLE;; MCCPT1; MCPT1;; KIAA1670
Asterisk 601988 LIM DOMAIN KINASE 2; LIMK2
Asterisk 601989 S100 CALCIUM-BINDING PROTEIN A13; S100A13
Asterisk 601990 TUMOR PROTEIN p73; TP73 p53-RELATED PROTEIN p73; p73;; TRP73, MOUSE, HOMOLOG OF
Asterisk 601991 NEUROONCOLOGIC VENTRAL ANTIGEN 2; NOVA2 ASTROCYTIC NOVA1-LIKE GENE; ANOVA
Percent 601992 FRIEDREICH ATAXIA 2; FRDA2
Asterisk 601993 NUCLEAR RECEPTOR COACTIVATOR 2; NCOA2 GLUCOCORTICOID RECEPTOR-INTERACTING PROTEIN 1; GRIP1;; TRANSCRIPTIONAL INTERMEDIARY FACTOR 2; TIF2;; p160 STEROID RECEPTOR COACTIVATOR 2; SRC2 TIF2/MOZ FUSION GENE, INCLUDED
Asterisk 601994 TRANSFER RNA ARGININE TRR
Asterisk 601995 TENASCIN R; TNR RESTRICTIN
Caret 601996 MOVED TO 602026
Asterisk 601997 BH3-INTERACTING DOMAIN DEATH AGONIST; BID
Asterisk 601998 ESTROGEN-RELATED RECEPTOR, ALPHA; ESRRA ESTROGEN RECEPTOR-LIKE 1; ESRL1;; ESTROGEN-RELATED RECEPTOR 1; ERR1
Asterisk 601999 LIM HOMEOBOX GENE 1; LHX1 LIM1
Asterisk 602000 POLYMERASE I, RNA, SUBUNIT B; POLR1B RPA2;; RPA135;; RPO1-2
Asterisk 602001 NEUROPEPTIDE Y RECEPTOR Y5; NPY5R
Asterisk 602002 ZYXIN; ZYX
Asterisk 602003 LYMPHOID-RESTRICTED MEMBRANE PROTEIN; LRMP LYMPHOID PROTEIN OF ENDOPLASMIC RETICULUM;; JAW1
Asterisk 602004 PROTEIN-TYROSINE KINASE 6; PTK6 BREAST TUMOR KINASE; BRK;; PROTEIN-TYROSINE KINASE BRK
Asterisk 602005 SORTILIN-RELATED RECEPTOR; SORL1 SORLA1;; SORLA;; LR11
Asterisk 602006 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 2; MAPKAPK2 MAPKAP KINASE 2; MK2
Asterisk 602007 V-CRK AVIAN SARCOMA VIRUS CT10 ONCOGENE HOMOLOG-LIKE; CRKL ONCOGENE CRKL
Asterisk 602008 IMPORTIN 5; IPO5 RAN-BINDING PROTEIN 5; RANBP5;; KARYOPHERIN BETA-3; KPNB3;; IMPORTIN BETA-3
Asterisk 602009 CYTOCHROME c OXIDASE, SUBUNIT 6A2; COX6A2 CYTOCHROME c OXIDASE, SUBUNIT VIa, POLYPEPTIDE 2
Asterisk 602010 SPLICING FACTOR, SERINE/ARGININE-RICH, 11; SRSF11 SERINE/ARGININE-RICH SPLICING FACTOR 11;; SPLICING FACTOR, ARGININE/SERINE-RICH, 11; SFRS11;; SPLICING FACTOR, ARGININE/SERINE-RICH, 54-KD
Asterisk 602011 SUPPRESSOR OF TUMORIGENICITY 11; ST11 PANCREATIC ENDOCRINE TUMOR SUPPRESSOR 1; PETS1
Asterisk 602012 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 2; ENTPD2 CD39-LIKE 1; CD39L1
Asterisk 602013 POLYMERASE II, RNA, SUBUNIT G; POLR2G RPB7, S. CEREVISIAE, HOMOLOG OF
Number Sign 602014 HYPOMAGNESEMIA 1, INTESTINAL; HOMG1 HOMG;; HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HSH;; HYPOMAGNESEMIC TETANY;; HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA
Asterisk 602015 OUTER DENSE FIBER OF SPERM TAILS 2; ODF2 OUTER DENSE FIBER OF SPERM TAILS, 84-KD; ODF84 CENEXIN 1, INCLUDED;; CENEXIN 1 VARIANT 1, INCLUDED
Asterisk 602016 KRUPPEL-LIKE FACTOR 2; KLF2 LUNG KRUPPEL-LIKE ZINC FINGER TRANSCRIPTION FACTOR; LKLF
Asterisk 602017 PROTEASOME SUBUNIT, BETA-TYPE, 1; PSMB1 PROTEASOMAL SUBUNIT C5; HC5;; PROTEASOME SUBUNIT BETA-6
Asterisk 602018 NEURTURIN; NRTN NTN
Asterisk 602019 SQUALENE EPOXIDASE; SQLE
Asterisk 602020 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN G; MAFG
Asterisk 602021 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12A; PPP1R12A MYOSIN PHOSPHATASE TARGET SUBUNIT 1; MYPT1;; MYOSIN PHOSPHATASE, MYOSIN-BINDING SUBUNIT
Asterisk 602022 MAL-LIKE; MALL BENE PROTEIN; BENE
Asterisk 602023 CHLORIDE CHANNEL, KIDNEY, B; CLCNKB CLCKB
Asterisk 602024 CHLORIDE CHANNEL, KIDNEY, A; CLCNKA CLCK1
Number Sign 602025 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9 OBESITY, SUSCEPTIBILITY TO
Asterisk 602026 PHYTANOYL-CoA HYDROXYLASE; PHYH PAHX;; LNAP1, MOUSE, HOMOLOG OF
Asterisk 602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2 TRF2
Caret 602028 MOVED TO 601900
Caret 602029 REMOVED FROM DATABASE
Asterisk 602030 FUCOSYLTRANSFERASE 7; FUT7
Asterisk 602031 PROTEIN GERANYLGERANYLTRANSFERASE TYPE I, BETA SUBUNIT; PGGT1B
Number Sign 602032 ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE; ECTD4 ECTODERMAL DYSPLASIA, 'PURE' HAIR/NAIL TYPE
Asterisk 602033 ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 1; EML1 ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE; EMAPL;; EMAP
Asterisk 602034 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 2; CRHR2 CORTICOTROPIN-RELEASING FACTOR RECEPTOR 2; CRFR2;; CRF2 RECEPTOR
Asterisk 602035 PROTEIN PHOSPHATASE 4, CATALYTIC SUBUNIT; PPP4C SERINE/THREONINE PROTEIN PHOSPHATASE 4; PP4;; PROTEIN PHOSPHATASE X; PPX
Caret 602036 MOVED TO 133200
Asterisk 602037 RAS HOMOLOG GENE FAMILY, MEMBER H; RHOH ARHH;; TRANSLOCATION THREE FOUR; TTF
Asterisk 602038 DUAL-SPECIFICITY PHOSPHATASE 8; DUSP8 H1 PHOSPHATASE, VACCINIA VIRUS, HOMOLOG OF; HVH5;; M3/6, MOUSE, HOMOLOG OF
Asterisk 602039 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT A; EIF3A EUKARYOTIC TRANSLATION INITIATION FACTOR 3, THETA; EIF3-THETA;; EIF3, p180 SUBUNIT;; EIF3, p170 SUBUNIT;; CYTOPLASMIC PROTEIN p167;; CENTROSOMIN B, MOUSE, HOMOLOG OF;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 10, FORMERLY; EIF3S10, FORMERLY
Asterisk 602040 CELL ADHESION MOLECULE, NEURAL, 2; NCAM2
Asterisk 602041 NK3 HOMEOBOX 1; NKX3-1 NKX3.1, MOUSE, HOMOLOG OF;; NK HOMEOBOX, FAMILY 3, MEMBER A; NKX3A;; BAPX2
Asterisk 602042 G PROTEIN-COUPLED RECEPTOR 18; GPR18
Asterisk 602043 G PROTEIN-COUPLED RECEPTOR 31; GPR31 12-(S)-HYDROXYEICOSATETRAENOIC ACID RECEPTOR;; 12-(S)-HETE RECEPTOR;; 12-HETER
Asterisk 602044 UNCOUPLING PROTEIN 3; UCP3
Asterisk 602045 RING FINGER PROTEIN 1; RING1 RING1A;; RNF1
Asterisk 602046 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 3; PDIA3 GLUCOSE-REGULATED PROTEIN, 58-KD; GRP58;; ERp57;; ER60
Asterisk 602047 PHOSPHODIESTERASE 3B, cGMP-INHIBITED; PDE3B cAMP PHOSPHODIESTERASE, ADIPOCYTE, cGMP-INHIBITED;; HcGIP1, RAT, HOMOLOG OF
Asterisk 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1 RHO FAMILY, SMALL GTP-BINDING PROTEIN RAC1;; CED10, C. ELEGANS, HOMOLOG OF
Asterisk 602049 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 2; RAC2 RHO FAMILY, SMALL GTP-BINDING PROTEIN RAC2
Asterisk 602050 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 3; RAC3 RHO FAMILY, SMALL GTP-BINDING PROTEIN RAC3
Asterisk 602051 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1-LIKE; PIN1L
Asterisk 602052 CYCLIN G-ASSOCIATED KINASE; GAK
Asterisk 602053 KRUPPEL-LIKE FACTOR 6; KLF6 B CELL-DERIVED 1; BCD1;; PROTOONCOGENE BCD1;; TRANSCRIPTION FACTOR ZF9; ZF9;; CORE PROMOTER ELEMENT-BINDING PROTEIN; COPEB
Asterisk 602054 T-BOX 1; TBX1
Asterisk 602055 INSULIN-INDUCED GENE 1; INSIG1 CL6, RAT, HOMOLOG OF
Asterisk 602056 DEFENSIN, BETA, 1; DEFB1
Caret 602057 MOVED TO 300256
Asterisk 602058 PROTEASE INHIBITOR 10; PI10 BOMAPIN;; SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 10; SERPINB10
Asterisk 602059 IMMUNOGLOBULIN SUPERFAMILY CONTAINING LEUCINE-RICH REPEAT; ISLR
Asterisk 602060 TRANSMEMBRANE PROTEASE, SERINE 2; TMPRSS2 TMPRSS2/ERG FUSION GENE, INCLUDED;; TMPRSS2/ETV1 FUSION GENE, INCLUDED
Asterisk 602061 EPIREGULIN; EREG
Asterisk 602062 NERVE INJURY-INDUCED PROTEIN 1; NINJ1 NINJURIN
Asterisk 602063 TRANSALDOLASE 1; TALDO1
Asterisk 602064 MYOINOSITOL MONOPHOSPHATASE 1; IMPA1 IMPase;; IMPA;; IMP
Asterisk 602065 ADENOSINE DEAMINASE, RNA-SPECIFIC, B2; ADARB2 ADENOSINE DEAMINASE, RNA-SPECIFIC, 3; ADAR3;; RNA-EDITING ENZYME 2, RAT, HOMOLOG OF; RED2
Number Sign 602066 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS, FAMILIAL;; ICCA SYNDROME;; PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS; PKD/IC
Caret 602067 MOVED TO 601419
NULL 602068 LEISHMANIASIS, TEGUMENTARY, SUSCEPTIBILITY TO
Asterisk 602069 NEUROPILIN 1; NRP1 NPN1; NP1;; NRP;; VASCULAR ENDOTHELIAL GROWTH FACTOR-165 RECEPTOR; VEGF165R;; BLOOD DENDRITIC CELL ANTIGEN 4; BDCA4
Asterisk 602070 NEUROPILIN 2; NRP2 NPN2;; VASCULAR ENDOTHELIAL GROWTH FACTOR-165 RECEPTOR 2; VEGF165R2
Percent 602071 BROAD TERMINAL PHALANGES, FAMILIAL
Asterisk 602072 CYTOCHROME c OXIDASE, SUBUNIT 6A1; COX6A1 CYTOCHROME c OXIDASE, SUBUNIT VIa, POLYPEPTIDE 1;; COX6A, LIVER; COX6AL
Caret 602073 MOVED TO 601533
Asterisk 602074 DEATH-ASSOCIATED PROTEIN 3; DAP3 MITOCHONDRIAL RIBOSOMAL PROTEIN S29; MRPS29
Asterisk 602075 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 1; SATB1
Asterisk 602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1; TRPV1 VANILLOID RECEPTOR 1; VR1;; CAPSAICIN RECEPTOR
Caret 602077 MOVED TO 604292
Number Sign 602078 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2 FEOM2 LOCUS;; FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, AUTOSOMAL RECESSIVE
Number Sign 602079 TRIMETHYLAMINURIA; TMAU FISH-ODOR SYNDROME
Number Sign 602080 PAGET DISEASE OF BONE 2, EARLY-ONSET; PDB2
Number Sign 602081 SPEECH-LANGUAGE DISORDER 1; SPCH1 CHILDHOOD APRAXIA OF SPEECH; CAS;; DEVELOPMENTAL VERBAL DYSPRAXIA; DVD;; SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA
Number Sign 602082 CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE; CDTB THIEL-BEHNKE CORNEAL DYSTROPHY; TBCD;; CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2;; CORNEAL DYSTROPHY, HONEYCOMB-SHAPED
Number Sign 602083 USHER SYNDROME, TYPE IF; USH1F
Caret 602084 MOVED TO 601728
Percent 602085 POLYDACTYLY, POSTAXIAL, TYPE A2; PAPA2 POSTAXIAL POLYDACTYLY, TYPE A2
Percent 602086 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 3; ARVC3
Percent 602087 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 4; ARVC4
Number Sign 602088 NEPHRONOPHTHISIS 2; NPHP2 NPH2
Number Sign 602089 HEMANGIOMA, CAPILLARY INFANTILE HCI;; HEMANGIOMA, HEREDITARY CAPILLARY
Asterisk 602090 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 3; LTBP3 LTBP2, FORMERLY
Asterisk 602091 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2; LTBP2 LTBP3, FORMERLY
Number Sign 602092 DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A DEAFNESS, AUTOSOMAL RECESSIVE 18; DFNB18
Number Sign 602093 CONE DYSTROPHY 3; COD3 RETINAL CONE DYSTROPHY CONE-ROD DYSTROPHY 14, INCLUDED; CORD14, INCLUDED
Caret 602094 MOVED TO 151660
Asterisk 602095 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 4; SLC30A4 ZINC TRANSPORTER 4; ZNT4
Percent 602096 ALZHEIMER DISEASE 5 AD5;; ALZHEIMER DISEASE, FAMILIAL, 5
Percent 602097 USHER SYNDROME, TYPE IE; USH1E
Asterisk 602098 POLO-LIKE KINASE 1; PLK1 POLO-LIKE KINASE; PLK;; SERINE/THREONINE PROTEIN KINASE 13; STPK13
Number Sign 602099 AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5
Asterisk 602100 PBX/KNOTTED 1 HOMEOBOX 1; PKNOX1 PBX-REGULATING PROTEIN 1; PREP1
Asterisk 602101 CLAUDIN 5; CLDN5 TRANSMEMBRANE PROTEIN DELETED IN VELOCARDIOFACIAL SYNDROME; TMVCF
Asterisk 602102 SUPPRESSOR OF TY 5, S. CEREVISIAE, HOMOLOG OF; SUPT5H CHROMATIN STRUCTURE REGULATOR, YEAST, HOMOLOG OF; SPT5
Asterisk 602103 TRANSMEMBRANE PROTEIN 1; TMEM1 EPILEPSY HOLOPROSENCEPHALY CANDIDATE 1; EHOC1
Asterisk 602104 SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2
Asterisk 602105 MutS, E. COLI, HOMOLOG OF, 4; MSH4
Asterisk 602106 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 15; KCNJ15 KIR4.2
NULL 602107 NEUROPATHY, HEREDITARY THERMOSENSITIVE
Asterisk 602108 MATRILIN 2; MATN2
Asterisk 602109 MATRILIN 3; MATN3
Asterisk 602110 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 2; SLC29A2 EQUILIBRATIVE NUCLEOSIDE TRANSPORTER 2; ENT2;; HYDROPHOBIC NUCLEOLAR PROTEIN, 36-KD; HNP36;; DELAYED-EARLY RESPONSE GENE 12; DER12
Number Sign 602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE SEMD, MISSOURI TYPE METAPHYSEAL ANADYSPLASIA 1, INCLUDED; MANDP1, INCLUDED
Asterisk 602112 METALLOPHOSPHOESTERASE DOMAIN-CONTAINING PROTEIN 1; MPPED1 CHROMOSOME 22 OPEN READING FRAME 1; C22ORF1;; ADULT BRAIN PROTEIN 239; 239AB
Asterisk 602113 LYSINE-SPECIFIC METHYLTRANSFERASE 2D; KMT2D MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA 2; MLL2;; MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA 4; MLL4;; ALL1-RELATED GENE; ALR
NULL 602114 NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVER DISEASE
Asterisk 602115 FIBROBLAST GROWTH FACTOR 10; FGF10
Asterisk 602116 YEATS DOMAIN-CONTAINING PROTEIN 4; YEATS4 GLIOMA-AMPLIFIED SEQUENCE 41; GAS41
Asterisk 602117 NECDIN; NDN
Asterisk 602118 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 1; CHD1
Asterisk 602119 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 2; CHD2
Asterisk 602120 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 3; CHD3 Mi2-ALPHA
Asterisk 602121 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 1; DIAPH1 DIA1
Asterisk 602122 SIGNAL RECOGNITION PARTICLE, 72-KD; SRP72
Asterisk 602123 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-GAMMA; CAMK2G CaM KINASE II GAMMA SUBUNIT;; CAMKG
Percent 602124 DYSTONIA 7, TORSION; DYT7 TORSION DYSTONIA, FOCAL ADULT-ONSET CERVICAL DYSTONIA, PRIMARY, INCLUDED
Asterisk 602125 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX10; COX10 COX10, S. CEREVISIAE, HOMOLOG OF;; HEME A:FARNESYLTRANSFERASE
Asterisk 602126 ZINC FINGER PROTEIN 161, MOUSE, HOMOLOG OF; ZFP161 ZF5, MOUSE, HOMOLOG OF
Asterisk 602127 SMOOTHELIN; SMTN
Asterisk 602128 GROWTH ARREST-SPECIFIC 2-LIKE 1; GAS2L1 GAS2-RELATED ON CHROMOSOME 22;; GAR22
Asterisk 602129 MYOSIN IXB; MYO9B MYOSIN, RAT, HOMOLOG OF; MYR5
Asterisk 602130 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 3; MAPKAPK3 MAPKAP3;; MAPKAP KINASE 3; MK3;; 3PK
Asterisk 602131 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 2; PHLDA2 TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT CANDIDATE GENE 3; TSSC3;; TUMOR-SUPPRESSING STF cDNA 3;; IMPRINTED IN PLACENTA AND LIVER; IPL;; BECKWITH-WIEDEMANN REGION 1C; BWR1C
Asterisk 602132 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 5; CTAGE5 MENINGIOMA-EXPRESSED ANTIGEN; MGEA;; MENINGIOMA-EXPRESSED ANTIGEN 6; MGEA6; MEA6
Asterisk 602133 PHOSPHORIBOSYLFORMYLGLYCINAMIDINE SYNTHASE; PFAS PHOSPHORIBOSYLFORMYLGLYCINAMIDE AMIDOTRANSFERASE; FGARAT
Percent 602134 TREMOR, HEREDITARY ESSENTIAL, 2; ETM2
Asterisk 602135 DYNEIN, AXONEMAL, LIGHT INTERMEDIATE POLYPEPTIDE 1; DNALI1 INNER DYNEIN ARM, CHLAMYDOMONAS, HOMOLOG OF;; p28
Asterisk 602136 PEROXISOME BIOGENESIS FACTOR 1; PEX1 PEROXIN 1
Asterisk 602137 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 2; NDUFA2 B8 PROTEIN
Asterisk 602138 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 6; NDUFA6
Asterisk 602139 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 7; NDUFA7
Asterisk 602140 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 8; NDUFB8
Asterisk 602141 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8; NDUFS8 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 23-KD SUBUNIT;; TYKY
Asterisk 602142 PHOSPHOLIPASE C, DELTA-1; PLCD1
Asterisk 602143 TUMOR PROTEIN p53-BINDING PROTEIN 2; TP53BP2 53BP2;; APOPTOSIS-STIMULATING PROTEIN OF p53, 2; ASPP2
Asterisk 602144 BROMODOMAIN, TESTIS-SPECIFIC; BRDT
Asterisk 602145 PROLIFERATION-ASSOCIATED 2G4, 38-KD; PA2G4 ERBB3-BINDING PROTEIN 1; EBP1
Asterisk 602146 LIM HOMEOBOX GENE 4; LHX4 LHX4/IGHG1 FUSION GENE, INCLUDED
Caret 602147 REMOVED FROM DATABASE
Asterisk 602148 SRY-BOX 1; SOX1 SRY-RELATED HMG-BOX GENE 1
Asterisk 602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1 PITUITARY HOMEOBOX 1; PTX1;; BACKFOOT, MOUSE, HOMOLOG OF; BFT;; PITUITARY OTX-RELATED FACTOR; POTX
Asterisk 602150 SNAIL, DROSOPHILA, HOMOLOG OF, 2; SNAI2 SLUG, CHICKEN, HOMOLOG OF; SLUG;; NEURAL CREST TRANSCRIPTION FACTOR SLUG
Asterisk 602151 DISHEVELLED 2; DVL2
NULL 602152 RHYNS SYNDROME RETINITIS PIGMENTOSA SYNDROME;; RETINITIS PIGMENTOSA, HYPOPITUITARISM, NEPHRONOPHTHISIS, AND MILD SKELETAL DYSPLASIA
Asterisk 602153 KERATIN 81, TYPE II; KRT81 K81;; KB21;; K2.9;; KERATIN, HAIR, BASIC, 1; KRTHB1;; KERATIN, HARD, TYPE II, 1; HB1
Asterisk 602154 NONCODING TRANSCRIPT IN T CELLS NTT
Asterisk 602155 UBX DOMAIN PROTEIN 8; UBXN8 REPRODUCTION/CHROMOSOME 8; REP8;; D8S2298E
Caret 602156 MOVED TO 601134
Asterisk 602157 NEUROONCOLOGIC VENTRAL ANTIGEN 1; NOVA1 VENTRAL NEURON-SPECIFIC PROTEIN 1;; Ri ANTIGEN
Asterisk 602158 CHLORIDE CHANNEL, NUCLEOTIDE SENSITIVE, 1A; CLNS1A CHLORIDE CONDUCTANCE REGULATOR, VOLUME SENSITIVE; ICln
Asterisk 602159 CORONIN 2A; CORO2A CORONIN-LIKE PROTEIN B; CLIPINB;; WD REPEAT-CONTAINING PROTEIN 2; WDR2;; IR10
Asterisk 602160 TRANSCRIPTION FACTOR DP2; TFDP2 E2F DIMERIZATION PARTNER 2; DP2
Asterisk 602161 PROTEASOME ACTIVATOR SUBUNIT 2; PSME2 PROTEASOME ACTIVATOR 28-BETA;; PA28-BETA; PA28B;; MCP ACTIVATOR, 31-KD SUBUNIT
Asterisk 602162 SYNAPTONEMAL COMPLEX PROTEIN 1; SYCP1 SCP1
Asterisk 602163 UBIQUITIN-CONJUGATING ENZYME E2E 2; UBE2E2
Asterisk 602164 5-HYDROXYTRYPTAMINE RECEPTOR 4; HTR4 SEROTONIN 5-HT-4 RECEPTOR;; SEROTONIN 5-HT-4A RECEPTOR;; CARDIAC 5-HT4 RECEPTOR
Asterisk 602165 TRIPARTITE MOTIF-CONTAINING PROTEIN 27; TRIM27 RET FINGER PROTEIN; RFP
Asterisk 602166 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-2 SUBUNIT; AP3B2 ADAPTOR-RELATED PROTEIN COMPLEX 3B, NEURON-SPECIFIC, BETA-3B;; AP3B, BETA-3B;; NEURONAL ADAPTIN-LIKE PROTEIN, BETA SUBUNIT; NAPTB
Asterisk 602167 ESTROGEN-RELATED RECEPTOR, BETA; ESRRB ESTROGEN RECEPTOR-LIKE 2; ESRL2;; ESTROGEN-RELATED RECEPTOR 2; ERR2
Asterisk 602168 VACCINIA-RELATED KINASE 1; VRK1 VACCINIA VIRUS B1R-RELATED KINASE 1
Asterisk 602169 VACCINIA-RELATED KINASE 2; VRK2 VACCINIA VIRUS B1R-RELATED KINASE 2
Asterisk 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88
Asterisk 602171 GLYCOPROTEIN A33; GPA33 CELL SURFACE ANTIGEN A33; A33
Asterisk 602172 CYTOCHROME P450, SUBFAMILY VIIIB, POLYPEPTIDE 1; CYP8B1 CYP12;; STEROL 12-ALPHA-HYDROXYLASE
Asterisk 602173 SEC62, S. CEREVISIAE, HOMOLOG OF; SEC62 TRANSLOCATION PROTEIN 1, DROSOPHILA, HOMOLOG OF; TLOC1;; HTP1
Asterisk 602174 G PROTEIN-COUPLED RECEPTOR 25; GPR25
Asterisk 602175 PROTEASOME SUBUNIT, BETA-TYPE, 2; PSMB2 PROTEASOME SUBUNIT BETA-4
Asterisk 602176 PROTEASOME SUBUNIT, BETA-TYPE, 3; PSMB3 PROTEASOME SUBUNIT BETA-3
Asterisk 602177 PROTEASOME SUBUNIT, BETA-TYPE, 4; PSMB4 PROTEASOME SUBUNIT BETA-7
Asterisk 602178 CHONDROADHERIN; CHAD
Asterisk 602179 HEAT-SHOCK 27-KD PROTEIN 2; HSPB2
Asterisk 602180 SIGNAL-INDUCED PROLIFERATION-ASSOCIATED GENE 1; SIPA1 SPA1
Asterisk 602181 STAPHYLOCOCCAL NUCLEASE DOMAIN- AND TUDOR DOMAIN-CONTAINING PROTEIN 1; SND1 TUDOR-SN; TSN;; EBNA2 COACTIVATOR p100; p100
Asterisk 602182 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 3; ENPP3 PHOSPHODIESTERASE I/NUCLEOTIDE PYROPHOSPHATASE 3; PDNP3
Asterisk 602183 NK3 HOMEOBOX 2; NKX3-2 BAGPIPE HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; BAPX1;; NKX3.2, MOUSE, HOMOLOG OF
Asterisk 602184 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 3; NDUFV3 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 10-KD SUBUNIT
Caret 602185 MOVED TO 600004
Asterisk 602186 VGF, NERVE GROWTH FACTOR-INDUCIBLE; VGF NEUROENDOCRINE REGULATORY PEPTIDE 1, INCLUDED; NERP1, INCLUDED;; NEUROENDOCRINE REGULATORY PEPTIDE 2, INCLUDED; NERP2, INCLUDED
Asterisk 602187 ZINC FINGER PROTEIN 195; ZNF195
Asterisk 602188 EPHRIN RECEPTOR EphA4; EPHA4 HEK8;; SEK, MOUSE, HOMOLOG OF;; TYRO1
Asterisk 602189 REGULATOR OF G PROTEIN SIGNALING 3; RGS3
Asterisk 602190 EPHRIN RECEPTOR EphA7; EPHA7 HEK11
Asterisk 602191 E74-LIKE FACTOR 3; ELF3 ETS DOMAIN TRANSCRIPTION FACTOR, SERINE BOX; ESX;; EPITHELIUM-SPECIFIC ETS FACTOR 1; ESE1
Asterisk 602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10 AD10;; KUZBANIAN, DROSOPHILA, HOMOLOG OF; KUZ
Asterisk 602193 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 1; SLC29A1 EQUILIBRATIVE NUCLEOSIDE TRANSPORTER 1; ENT1
Asterisk 602194 HTRA SERINE PEPTIDASE 1; HTRA1 HtrA, E. COLI, HOMOLOG OF; HTRA;; PROTEASE, SERINE, 11; PRSS11
Asterisk 602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1 HEAT-SHOCK PROTEIN 27; HSP27
Percent 602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES SKELETAL DYSPLASIA RELATED TO CAMPOMELIC DYSPLASIA;; CAMPOMELIC DYSPLASIA, MILD
NULL 602197 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 CDR3
Asterisk 602198 CDK2-ASSOCIATED PROTEIN 1; CDK2AP1 DELETED IN ORAL CANCER 1; DOC1
Percent 602199 MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY MCKAT DEFICIENCY
Percent 602200 VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY
Asterisk 602201 EXTRACELLULAR MATRIX PROTEIN 1; ECM1
Asterisk 602202 DOLICHYL-DIPHOSPHOOLIGOSACCHARIDE-PROTEIN GLYCOSYLTRANSFERASE; DDOST OLIGOSACCHARYLTRANSFERASE; OST;; OLIGOSACCHARYLTRANSFERASE, 48-KD; OST48
Asterisk 602203 SARCOLIPIN; SLN
Asterisk 602204 BICAUDAL D, DROSOPHILA, HOMOLOG OF, 1; BICD1
Caret 602205 MOVED TO 601805
Asterisk 602206 RAS-ASSOCIATED PROTEIN RAB17; RAB17
Asterisk 602207 RAS-ASSOCIATED PROTEIN RAB18; RAB18
Asterisk 602208 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 10; KCNJ10 GLIAL INWARDLY RECTIFYING POTASSIUM CHANNEL Kir4.1
Asterisk 602209 RAS-RESPONSIVE ELEMENT BINDING PROTEIN 1; RREB1
Asterisk 602210 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT E; EIF3E EUKARYOTIC TRANSLATION INITIATION FACTOR 3, 48-KD; EIF3-p48;; ONCOGENE INT6; INT6;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 6, FORMERLY; EIF3S6, FORMERLY MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 6, INCLUDED
Asterisk 602211 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 17; FKHL17 FORKHEAD-RELATED ACTIVATOR 9; FREAC9
Asterisk 602212 SIAH E3 UBIQUITIN PROTEIN LIGASE FAMILY, MEMBER 1; SIAH1 SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 1
Asterisk 602213 SIAH E3 UBIQUITIN PROTEIN LIGASE FAMILY, MEMBER 2; SIAH2 SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 2
Asterisk 602214 CASEIN KINASE I, GAMMA-2; CSNK1G2
Asterisk 602215 DEFENSIN, BETA, 4A; DEFB4A HBD2;; DEFENSIN, BETA, 4, FORMERLY; DEFB4, FORMERLY;; DEFENSIN, BETA, 2, FORMERLY; DEFB2, FORMERLY
Asterisk 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11 LKB1
Asterisk 602217 SYNDECAN-BINDING PROTEIN; SDCBP SYNTENIN;; PRO-TGF-ALPHA CYTOPLASMIC DOMAIN-INTERACTING PROTEIN 18; TACIP18;; MELANOMA DIFFERENTIATION-ASSOCIATED GENE 9; MDA9
Asterisk 602218 SAL-LIKE 1; SALL1 HSAL1
Asterisk 602219 SAL-LIKE 2; SALL2 HSAL2
Asterisk 602220 RAS-LIKE, FAMILY 10, MEMBER A; RASL10A RAS-RELATED ON CHROMOSOME 22; RRP22
Asterisk 602221 ZINC FINGER, MYM-TYPE 2; ZMYM2 ZINC FINGER PROTEIN 198; ZNF198;; REARRANGED IN ATYPICAL MYELOPROLIFERATIVE DISORDER; RAMP;; FUSED IN MYELOPROLIFERATIVE DISORDERS; FIM ZNF198/FGFR1 FUSION GENE, INCLUDED
Caret 602222 MOVED TO 602022
Asterisk 602223 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 1; EIF4EBP1 4EBP1
Asterisk 602224 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 2; EIF4EBP2 4EBP2
Asterisk 602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX
Asterisk 602226 CD180 MOLECULE; CD180 CD180 ANTIGEN;; LYMPHOCYTE ANTIGEN 64, RADIOPROTECTIVE, 105-KD; LY64;; RP105, MOUSE, HOMOLOG OF
Asterisk 602227 CHEMOKINE, CC MOTIF, LIGAND 19; CCL19 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 19; SCYA19;; EBI1-LIGAND CHEMOKINE; ELC;; MACROPHAGE INFLAMMATORY PROTEIN 3-BETA; MIP3B;; EXODUS 3
Asterisk 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2 T-CELL TRANSCRIPTION FACTOR 4, FORMERLY; TCF4, FORMERLY TCF7L2/VTI1A FUSION GENE, INCLUDED
Asterisk 602229 SRY-BOX 10; SOX10 SRY-RELATED HMG-BOX GENE 10;; DOMINANT MEGACOLON, MOUSE, HOMOLOG OF; DOM
Asterisk 602230 SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN; SH3BGR
Asterisk 602231 SMALL UBIQUITIN-LIKE MODIFIER 3; SUMO3 SMT3, YEAST, HOMOLOG 1; SMT3H1;; SMT3A
Asterisk 602232 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 3; KCNQ3 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 3
Asterisk 602233 APOPTOTIC PROTEASE ACTIVATING FACTOR 1; APAF1
Asterisk 602234 CASPASE 9, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP9 APOPTOTIC PROTEASE ACTIVATING FACTOR 3; APAF3
Asterisk 602235 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 2
Caret 602236 MOVED TO 601880
Caret 602237 MOVED TO 601470
Asterisk 602238 EXOSOME COMPONENT 2; EXOSC2 RIBOSOMAL RNA-PROCESSING PROTEIN 4, S. CEREVISIAE, HOMOLOG OF; RRP4
Asterisk 602239 CYTOCHROME P450, SUBFAMILY XXVIA, POLYPEPTIDE 1; CYP26A1 P450, RETINOIC ACID-INACTIVATING, 1; P450RAI1
Asterisk 602240 ZINC FINGER PROTEIN 192; ZNF192
Asterisk 602241 MITOCHONDRIAL INTERMEDIATE PEPTIDASE; MIPEP
Asterisk 602242 ADAPTOR-RELATED PROTEIN COMPLEX 2, SIGMA-1 SUBUNIT; AP2S1 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 2, 17-KD; CLAPS2;; CLATHRIN ADAPTOR PROTEIN AP17; AP17;; CLATHRIN ADAPTOR COMPLEX AP2, SIGMA SUBUNIT
Asterisk 602243 CD151 ANTIGEN; CD151 PLATELET-ENDOTHELIAL CELL TETRASPANIN ANTIGEN 3; PETA3;; SFA1;; RED BLOOD CELL ANTIGEN MER 2; MER2
Asterisk 602244 DEOXYRIBONUCLEASE I-LIKE 3; DNASE1L3
Asterisk 602245 GTP-BINDING PROTEIN 1; GTPBP1 GP1
Asterisk 602246 ZINC FINGER PROTEIN 193; ZNF193
Percent 602247 XANTHOMATOSIS, SUSCEPTIBILITY TO
Percent 602248 MALIGNANT ATROPHIC PAPULOSIS DEGOS DISEASE;; PAPULOSIS, MALIGNANT ATROPHIC
NULL 602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES
Asterisk 602250 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 9; TNFRSF9 INDUCED BY LYMPHOCYTE ACTIVATION; ILA;; CD137;; Ly63, MOUSE, HOMOLOG OF;; 4-1BB, MOUSE, HOMOLOG OF
Asterisk 602251 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 10, YEAST, HOMOLOG OF; TIMM10 TIM10;; TIM10A
NULL 602252 MITOCHONDRIAL INTERMEMBRANE SPACE PROTEIN TIM12, YEAST, HOMOLOG OF
Asterisk 602253 KRUPPEL-LIKE FACTOR 4; KLF4 ENDOTHELIAL KRUPPEL-LIKE ZINC FINGER PROTEIN; EZF;; GUT-ENRICHED KRUPPEL-LIKE FACTOR; GKLF
Asterisk 602254 SRR1 DOMAIN-CONTAINING PROTEIN; SRRD HEPATOCELLULAR CARCINOMA COMPLICATING HEMOCHROMATOSIS;; HC/HCC
Asterisk 602255 SERINE/THREONINE PROTEIN KINASE 25; STK25 STERILE 20/OXIDANT STRESS-RESPONSE KINASE 1; SOK1;; YEAST SPS1/STE20-RELATED KINASE 1; YSK1
Asterisk 602256 PROTEIN PHOSPHATASE, EF-HAND CALCIUM-BINDING DOMAIN 2; PPEF2
Asterisk 602257 SCAVENGER RECEPTOR CLASS B, MEMBER 2; SCARB2 CD36 ANTIGEN-LIKE 2; CD36L2;; LYSOSOMAL INTEGRAL MEMBRANE PROTEIN II; LIMPII; LIMP2
Caret 602258 MOVED TO 601040
Asterisk 602259 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 3; TTC3 TETRATRICOPEPTIDE REPEAT DOMAIN IN THE DOWN SYNDROME REGION; TPRD;; DCRR1
Asterisk 602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1 RIGUI;; PER PER1/ETV6 FUSION GENE, INCLUDED
Asterisk 602261 MATRIX METALLOPROTEINASE 15; MMP15 MATRIX METALLOPROTEINASE 15, MEMBRANE-TYPE;; MEMBRANE-TYPE MATRIX METALLOPROTEINASE 2; MT2-MMP
Asterisk 602262 MATRIX METALLOPROTEINASE 16; MMP16 MATRIX METALLOPROTEINASE 16, MEMBRANE-TYPE;; MEMBRANE-TYPE MATRIX METALLOPROTEINASE 3; MT3-MMP
Caret 602263 MOVED TO 601807
Asterisk 602264 SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN; SPOCK1 SPOCK;; TESTICAN
Asterisk 602265 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 9; NEDD9 HUMAN ENHANCER OF FILAMENTATION 1; HEF1;; CRK-ASSOCIATED SUBSTRATE-RELATED PROTEIN; CASL
Caret 602266 MOVED TO 300135
Asterisk 602267 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 8; ADAM8 HUMAN LEUKOCYTE DIFFERENTIATION ANTIGEN; CD156
Asterisk 602268 AMINE OXIDASE, COPPER-CONTAINING, 2; AOC2 RETINA-SPECIFIC AMINE OXIDASE; RAO
Asterisk 602269 ARMADILLO REPEAT GENE DELETED IN VCFS; ARVCF
Asterisk 602270 ANTIOXIDANT PROTEIN 1; ATOX1 ATX, YEAST, HOMOLOG OF, 1; HAH1
Number Sign 602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL; SMDAX SMD, AXIAL;; AXIAL SMD
Asterisk 602272 TRANSCRIPTION FACTOR 4; TCF4 IMMUNOGLOBULIN TRANSCRIPTION FACTOR 2; ITF2;; SEF2-1B;; SEF2;; E2-2
Asterisk 602273 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 1; GALNT1 GalNAc TRANSFERASE 1; GalNAcT1
Asterisk 602274 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 2; GALNT2 GalNAc TRANSFERASE 2; GalNAcT2
Asterisk 602275 GUANYLATE CYCLASE ACTIVATOR 1B; GUCA1B GUANYLATE CYCLASE-ACTIVATING PROTEIN, PHOTORECEPTOR 2; GCAP2;; GUANYLIN 2, RETINA; GUCA2
Asterisk 602276 TRANSCRIPTIONAL ADAPTOR 2A; TADA2A TRANSCRIPTIONAL ADAPTOR 2-LIKE; TADA2L;; ADA2, YEAST, HOMOLOG OF, ALPHA;; ADA2-ALPHA; ADA2A
Asterisk 602277 ZINC FINGER PROTEIN 184; ZNF184
Asterisk 602278 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 4; NEDD4 KIAA0093
Asterisk 602279 POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1 POLYADENYLATE-BINDING PROTEIN 2; PABP2; PAB2;; POLY(A)-BINDING PROTEIN 2
Asterisk 602280 TUBBY-LIKE PROTEIN 1; TULP1
Asterisk 602281 MILK FAT GLOBULE-EGF FACTOR 8; MFGE8 LACTADHERIN;; SECRETED EGF REPEAT AND DISCOIDIN DOMAINS-CONTAINING PROTEIN 1; SED1 MEDIN, INCLUDED
Asterisk 602282 LYSOPHOSPHATIDIC ACID RECEPTOR 1; LPAR1 ENDOTHELIAL DIFFERENTIATION GENE 2; EDG2;; LYSOPHOSPHATIDIC ACID RECEPTOR EDG2;; LPA RECEPTOR EDG2;; LPA1;; VENTRICULAR ZONE GENE 1; VZG1
Asterisk 602283 CHEMOKINE, CC MOTIF, LIGAND 8; CCL8 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 8; SCYA8;; MONOCYTE CHEMOTACTIC PROTEIN 2; MCP2
Asterisk 602284 BONE MORPHOGENETIC PROTEIN 8B; BMP8B BMP8;; OSTEOGENIC PROTEIN 2; OP2
Asterisk 602285 MATRIX METALLOPROTEINASE 17; MMP17 MATRIX METALLOPROTEINASE 17, MEMBRANE-TYPE;; MEMBRANE-TYPE MATRIX METALLOPROTEINASE 4; MT4-MMP
Asterisk 602286 STEROL C5-DESATURASE-LIKE; SC5DL STEROL C5-DESATURASE; SC5D;; 3-BETA-HYDROXYSTEROID-DELTA-5-DESATURASE;; DELTA-5-DESATURASE;; LATHOSTEROL DEHYDROGENASE;; ERG3, CANDIDA GLABRATA, HOMOLOG OF
Asterisk 602287 ENDOPLASMIC RETICULUM PROTEIN, 29-KD; ERP29 CHROMOSOME 12 OPEN READING FRAME 8; C12ORF8;; ERp29;; ERP28
Asterisk 602288 RHOTEKIN; RTKN
Asterisk 602289 DR1-ASSOCIATED PROTEIN 1; DRAP1 NEGATIVE COFACTOR 2-ALPHA;; NC2-ALPHA
Asterisk 602290 TRIPARTITE MOTIF-CONTAINING PROTEIN 32; TRIM32 TAT-INTERACTING PROTEIN, 72-KD;; HT2A;; BBS11 GENE; BBS11
Asterisk 602291 FORKHEAD BOX J1; FOXJ1 FORKHEAD, DROSOPHILA, HOMOLOG OF, 13; FKHL13;; HFH4
Asterisk 602292 ENOYL-CoA HYDRATASE, SHORT-CHAIN, 1, MITOCHONDRIAL; ECHS1 SHORT-CHAIN ENOYL-CoA HYDRATASE; SCEH
Asterisk 602293 CALCIUM- AND INTEGRIN-BINDING PROTEIN 1; CIB1 CIB;; KINASE-INTERACTING PROTEIN 1; KIP1;; KIP
Asterisk 602294 FORKHEAD BOX A1; FOXA1 HEPATOCYTE NUCLEAR FACTOR 3-ALPHA; HNF3A
Asterisk 602295 FORKHEAD BOX A3; FOXA3 HEPATOCYTE NUCLEAR FACTOR 3-GAMMA; HNF3G
Asterisk 602296 ADAPTOR-RELATED PROTEIN COMPLEX 4, MU-1 SUBUNIT; AP4M1 MU-ADAPTIN-RELATED PROTEIN 2;; MU-ARP2
Asterisk 602297 EPHRIN B3; EFNB3 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 8; EPLG8;; LIGAND OF EPH-RELATED KINASE 8; LERK8;; EFL6
Asterisk 602298 RAS-ASSOCIATED PROTEIN RAB7; RAB7
Caret 602299 MOVED TO 300284
Asterisk 602300 GALACTOSE-3-O-SULFOTRANSFERASE 1; GAL3ST1 CEREBROSIDE SULFOTRANSFERASE; CST;; 3-PRIME-PHOSPHOADENYLYLSULFATE:GALACTOSYLCERAMIDE 3-PRIME-SULFOTRANSFERASE;; GalCer SULFOTRANSFERASE;; GALACTOSYLCERAMIDE 3-PRIME SULFOTRANSFERASE
Asterisk 602301 LYSINE ACETYLTRANSFERASE 2A; KAT2A GCN5;; GENERAL CONTROL OF AMINO ACID SYNTHESIS, YEAST, HOMOLOG-LIKE 2; GCN5L2
Asterisk 602302 HAIRLESS, MOUSE, HOMOLOG OF; HR
Asterisk 602303 LYSINE ACETYLTRANSFERASE 2B; KAT2B CREBBP-ASSOCIATED FACTOR; CAF;; p300/CBP-ASSOCIATED FACTOR; PCAF;; P/CAF
Asterisk 602304 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 2; NR1D2 REV-ERBA-ALPHA-RELATED RECEPTOR; RVR;; REV-ERBA-BETA;; REV-ERB-BETA;; BD73
Caret 602305 MOVED TO 602162
Asterisk 602306 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 2; RGL2 RAS-ASSOCIATED PROTEIN RAB2L; RAB2L
Asterisk 602307 WW DOMAIN-CONTAINING PROTEIN 1; WWP1 WW DOMAIN-CONTAINING E3 UBIQUITIN PROTEIN LIGASE 1;; TGIF-INTERACTING UBIQUITIN LIGASE 1; TIUL1
Asterisk 602308 WW DOMAIN-CONTAINING PROTEIN 2; WWP2 WW DOMAIN-CONTAINING E3 UBIQUITIN PROTEIN LIGASE 2
Asterisk 602309 TUBBY-LIKE PROTEIN 2; TULP2
Asterisk 602310 RNA-BINDING MOTIF PROTEIN, SINGLE STRAND-INTERACTING, 1; RBMS1 MYC SINGLE-STRAND BINDING PROTEIN; MSSP;; SCR2
Asterisk 602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP AGOUTI-RELATED TRANSCRIPT, MOUSE, HOMOLOG OF; AGRT; ART
Caret 602312 MOVED TO 142711
Asterisk 602313 OVO-LIKE 1; OVOL1 OVO, DROSOPHILA, HOMOLOG OF, 1
Asterisk 602314 LADININ 1; LAD1 LINEAR IgA DISEASE ANTIGEN
Asterisk 602315 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 3; MAP2K3 PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 3; PRKMK3;; MKK3; MAPKK3;; MAPK/ERK KINASE 3; MEK3
Asterisk 602316 PEROXIREDOXIN 6; PRDX6 PHOSPHOLIPASE A2, LYSOSOMAL
Asterisk 602317 SH3 AND CYSTEINE-RICH DOMAINS 1; STAC1 STAC
Asterisk 602318 TRANSCRIPTION TERMINATION FACTOR 1, MITOCHONDRIAL; MTERF1 MTERF
Asterisk 602319 NEL-LIKE 1; NELL1
Asterisk 602320 NEL-LIKE 2; NELL2
Asterisk 602321 GLUTATHIONE S-TRANSFERASE, KAPPA-1; GSTK1 GLUTATHIONE S-TRANSFERASE K1;; GST13-13, RAT, HOMOLOG OF
Asterisk 602322 TELOMERASE RNA COMPONENT; TERC TELOMERASE RNA CANDIDATE 3; TRC3;; TR
Asterisk 602323 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 12; KCNJ12 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, INHIBITOR 1; KCNJN1;; INWARDLY RECTIFYING POTASSIUM CHANNEL Kir2.2
Asterisk 602324 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H3; HNRNPH3 HNRPH3;; 2H9
Asterisk 602325 EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 2; EIF4G2 EUKARYOTIC TRANSLATION INITIATION FACTOR 4G-LIKE 1;; p97;; DEATH-ASSOCIATED PROTEIN 5; DAP5
Asterisk 602326 RIBOSOMAL PROTEIN L23A; RPL23A
Asterisk 602327 PLECKSTRIN AND SEC7 DOMAINS-CONTAINING PROTEIN; PSD TYL;; EXCHANGE FACTOR FOR ARF6; EFA6;; EFA6A
Caret 602328 MOVED TO 300118
Asterisk 602329 SUPPRESSOR OF LIN12-LIKE; SEL1L SEL1-LIKE
Asterisk 602330 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 1; ABLIM1 ABLIM;; LIM ACTIN-BINDING PROTEIN 1; LIMAB1;; LIMATIN
Asterisk 602331 ORIGIN RECOGNITION COMPLEX, SUBUNIT 5, S. CEREVISIAE, HOMOLOG OF; ORC5 ORC5-LIKE; ORC5L
Asterisk 602332 NON-SMC CONDENSIN I COMPLEX SUBUNIT H; NCAPH CONDENSIN I COMPLEX, NON-SMC SUBUNIT H;; CHROMOSOME-ASSOCIATED PROTEIN H; CAPH;; BARREN, DROSOPHILA, HOMOLOG OF, 1; BRRN1
Asterisk 602333 EPITHELIAL MEMBRANE PROTEIN 1; EMP1 TUMOR-ASSOCIATED MEMBRANE PROTEIN; TMP
Asterisk 602334 EPITHELIAL MEMBRANE PROTEIN 2; EMP2
Asterisk 602335 EPITHELIAL MEMBRANE PROTEIN 3; EMP3
Asterisk 602336 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 1; ROR1 NEUROTROPHIC TYROSINE KINASE, RECEPTOR-RELATED 1; NTRKR1
Asterisk 602337 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2 NEUROTROPHIC TYROSINE KINASE, RECEPTOR-RELATED 2; NTRKR2
Asterisk 602338 PRECURSOR mRNA-PROCESSING FACTOR 4, S. POMBE, HOMOLOG OF, B; PRPF4B PRP4, YEAST, HOMOLOG OF
Asterisk 602339 SOLUTE CARRIER FAMILY 15 (H+/PEPTIDE TRANSPORTER), MEMBER 2; SLC15A2 HYDROGEN ION/PEPTIDE COTRANSPORTER, KIDNEY; PEPT2
NULL 602340 SENSORINEURAL HEARING LOSS, RETINAL PIGMENT EPITHELIUM LESIONS, DISCOLORED TEETH
Asterisk 602341 FORKHEAD BOX M1; FOXM1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 16; FKHL16;; FORKHEAD BOX M1B TRANSCRIPTION FACTOR; FOXM1B;; HFH11;; TRIDENT
Number Sign 602342 PIERPONT SYNDROME; PRPTS PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY
Asterisk 602343 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 1; TRPC1 TRANSIENT RECEPTOR POTENTIAL CHANNEL 1;; TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 1; TRP1
Asterisk 602344 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE 2; PAFAH2
Asterisk 602345 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 3; TRPC3 TRANSIENT RECEPTOR POTENTIAL CHANNEL 3;; TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 3; TRP3
Asterisk 602346 CONTACTIN-ASSOCIATED PROTEIN 1; CNTNAP1 CONTACTIN-ASSOCIATED PROTEIN; CASPR;; CONTACTIN-ASSOCIATED TRANSMEMBRANE RECEPTOR;; p190;; NEUREXIN IV; NRXN4;; PARANODIN;; NCP1
Number Sign 602347 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3 MDR3 DEFICIENCY;; CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE
Asterisk 602348 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 3; SNAPC3 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, 50-KD SUBUNIT; SNAP50;; PSE-BINDING TRANSCRIPTION FACTOR, BETA;; PTF-BETA
Asterisk 602349 NETRIN 2, CHICKEN, HOMOLOG-LIKE; NTN2L
Asterisk 602350 NEUROGRANIN; NRGN PROTEIN KINASE C SUBSTRATE RC3
Asterisk 602351 CHEMOKINE-LIKE RECEPTOR 1; CMKLR1 CHEMR23;; CHEMERIN RECEPTOR; CHEMERINR
Asterisk 602352 GONADOTROPIN-RELEASING HORMONE 2; GNRH2
Asterisk 602353 TRANSFORMING GROWTH FACTOR, BETA-1-INDUCED 1; TGFB1I1 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 55-KD;; ANDROGEN RECEPTOR COACTIVATOR; ARA55;; HIC5
Asterisk 602354 LINKER FOR ACTIVATION OF T CELLS; LAT
Asterisk 602355 TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6
Asterisk 602356 TNF RECEPTOR-ASSOCIATED FACTOR 5; TRAF5
Asterisk 602357 WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 1; WIPF1 WISKOTT-ALDRICH SYNDROME PROTEIN-INTERACTING PROTEIN; WASPIP;; WASP-INTERACTING PROTEIN; WIP
Asterisk 602358 HYPOCRETIN; HCRT OREXIN; OX;; PREPROOREXIN OREXIN A, INCLUDED;; OREXIN B, INCLUDED;; HYPOCRETIN 1, INCLUDED; HCRT1, INCLUDED;; HYPOCRETIN 2, INCLUDED; HCRT2, INCLUDED
Asterisk 602359 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 1; FXYD1 PHOSPHOLEMMAN; PLM
Asterisk 602360 L-ARGININE:GLYCINE AMIDINOTRANSFERASE; GATM AGAT
Number Sign 602361 GRACILE BONE DYSPLASIA; GCLEB SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;; OSTEOCRANIOSPLENIC SYNDROME;; OSTEOCRANIOSTENOSIS;; HABRODYSPLASIA
Asterisk 602362 GTPase-ACTIVATING PROTEIN, RAN, 1; RANGAP1 RAN GTPase-ACTIVATING PROTEIN 1
Caret 602363 MOVED TO 225500
Asterisk 602364 CATHEPSIN W; CTSW
Asterisk 602365 CATHEPSIN C; CTSC DIPEPTIDYL PEPTIDASE I; DPPI
Asterisk 602366 INTEGRIN-LINKED KINASE; ILK p59
Asterisk 602367 PENTRAXIN I, NEURONAL; NPTX1 NP1
Asterisk 602368 GLUTAMATE RECEPTOR, IONOTROPIC, DELTA 2; GRID2
Asterisk 602369 CYSTEINE-RICH, ANGIOGENIC INDUCER, 61; CYR61 CYSTEINE-RICH PROTEIN 61, MOUSE, HOMOLOG OF;; INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 10; IGFBP10;; CCN FAMILY, MEMBER 1; CCN1
Asterisk 602370 GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED MOLECULE-LIKE PROTEIN; GML
Asterisk 602371 ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 3; ACSL3 FATTY ACID CoA LIGASE, LONG CHAIN 3; FACL3;; ACYL-CoA SYNTHETASE 3; ACS3
Asterisk 602372 ZONADHESIN; ZAN
Asterisk 602373 CALPONIN 2; CNN2 CALPONIN, NEUTRAL, NON-SMOOTH MUSCLE;; CALPONIN H2, MOUSE, HOMOLOG OF
Asterisk 602374 CALPONIN 3; CNN3 CALPONIN, ACIDIC
Asterisk 602375 MITOCHONDRIAL RIBOSOMAL PROTEIN L12; MRPL12 RIBOSOMAL PROTEIN, MITOCHONDRIAL, L12; RPML12;; L12 RIBOSOMAL PROTEIN, BACTERIA, HOMOLOG OF
Asterisk 602376 INTERFERON-ALPHA, -BETA, AND -OMEGA RECEPTOR 2; IFNAR2
Asterisk 602377 DYNAMIN 1; DNM1
Asterisk 602378 DYNAMIN 2; DNM2 DYN2
Caret 602379 MOVED TO 300141
Asterisk 602380 UROPLAKIN 1B; UPK1B
Asterisk 602381 NGFIA-BINDING PROTEIN 2; NAB2 EGR1-BINDING PROTEIN 2 NAB2/STAT6 FUSION GENE, INCLUDED
Asterisk 602382 PHOSPHOLIPASE D1, PHOSPHATIDYLCHOLINE-SPECIFIC; PLD1
Asterisk 602383 OSTEOGLYCIN; OGN OSTEOINDUCTIVE FACTOR; OIF;; MIMECAN
Asterisk 602384 PHOSPHOLIPASE D2; PLD2
Asterisk 602385 SULFOTRANSFERASE FAMILY 1C, MEMBER 1; SULT1C1 SULFOTRANSFERASE 1C1
Asterisk 602386 ZINC FINGER PROTEIN 212; ZNF212 ZINC FINGER PROTEIN C2H2-150
Asterisk 602387 RNA-BINDING MOTIF PROTEIN, SINGLE STRAND-INTERACTING, 2; RBMS2 SCR3
Asterisk 602388 SYMPLEKIN; SYMPK SPK
Asterisk 602389 Tu TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TUFM MITOCHONDRIAL TRANSLATION ELONGATION FACTOR Tu;; EF-Tu, MITOCHONDRIAL;; EF-TuMT
Number Sign 602390 HEMOCHROMATOSIS, TYPE 2A; HFE2A HEMOCHROMATOSIS, TYPE 2, INCLUDED; HFE2, INCLUDED;; HEMOCHROMATOSIS, JUVENILE, INCLUDED; JH, INCLUDED
Asterisk 602391 PHOSPHATIDYLETHANOLAMINE N-METHYLTRANSFERASE; PEMT PEMPT PEMT1, INCLUDED;; PEMT2, INCLUDED
Asterisk 602392 HYPOCRETIN RECEPTOR 1; HCRTR1 OREXIN 1 RECEPTOR; OX1R;; OREXIN A RECEPTOR
Asterisk 602393 HYPOCRETIN RECEPTOR 2; HCRTR2 OREXIN 2 RECEPTOR; OX2R;; OREXIN A/OREXIN B RECEPTOR;; OREXIN RECEPTOR
Asterisk 602394 NUCLEOLAR AND COILED-BODY PHOSPHOPROTEIN 1; NOLC1 NUCLEOLAR PROTEIN, 130-KD; p130;; NOPP140
Asterisk 602395 GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE, MITOCHONDRIAL; GPAM GPAT, MITOCHONDRIAL;; GPAT1
Asterisk 602396 ANNEXIN A8; ANXA8 ANNEXIN VIII; ANX8
Asterisk 602397 ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1 FIC GENE 1; FIC1
Number Sign 602398 DESMOSTEROLOSIS
Asterisk 602399 MITOGEN-ACTIVATED PROTEIN KINASE 12; MAPK12 STRESS-ACTIVATED PROTEIN KINASE 3; SAPK3;; EXTRACELLULAR SIGNAL-REGULATED KINASE 6; ERK6;; p38-GAMMA
Number Sign 602400 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; ARIH;; ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS; IFAH
Percent 602401 ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE; ECTD8
Asterisk 602402 FORKHEAD BOX C2; FOXC2 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 14; FKHL14;; MESENCHYME FORKHEAD 1; MFH1
Asterisk 602403 BLEOMYCIN HYDROLASE; BLMH BMH
Percent 602404 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY
Caret 602405 MOVED TO 600910
Asterisk 602406 HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 1; HAND1 HLH TRANSCRIPTION FACTOR HAND1;; EHAND
Asterisk 602407 HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 2; HAND2 HLH TRANSCRIPTION FACTOR HAND2;; DECIDUUM, HEART, AUTONOMIC NERVOUS SYSTEM, NEURAL CREST-DERIVED; DHAND2;; DHAND
Asterisk 602408 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 1; NR1D1 THYROID HORMONE RECEPTOR, ALPHA-1-LIKE; THRAL;; REV-ERBA-ALPHA;; REV-ERB-ALPHA;; ERBA-RELATED 1; EAR1
Asterisk 602409 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 10; MLLT10 ALL1-FUSED GENE FROM CHROMOSOME 10; AF10 AF10/MLL FUSION GENE, INCLUDED;; AF10/HEAB FUSION GENE, INCLUDED
Asterisk 602410 BROMODOMAIN- AND PHD FINGER-CONTAINING PROTEIN; BRPF1 BROMODOMAIN-CONTAINING PROTEIN, 140-KD; BR140;; PEREGRIN
Asterisk 602411 EXOSTOSIN-LIKE GLYCOSYLTRANSFERASE 2; EXTL2 EXOSTOSIN-LIKE 2;; MULTIPLE EXOSTOSES-LIKE 2;; EXT-RELATED GENE 2; EXTR2
Asterisk 602412 RIBOSOMAL PROTEIN S24; RPS24
Asterisk 602413 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN, 15-KD; SDHC SUCCINATE DEHYDROGENASE 3, INTEGRAL MEMBRANE SUBUNIT; SDH3;; SUCCINATE DEHYDROGENASE CYTOCHROME b
Asterisk 602414 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 1; APBA1 X11;; X11-ALPHA;; D9S411E;; MUNC18-1-INTERACTING PROTEIN 1; MINT1;; VERTEBRATE LIN10 HOMOLOG; LIN10
Asterisk 602415 DYSTROBREVIN, BETA; DTNB
Asterisk 602416 ADAPTOR-RELATED PROTEIN COMPLEX 3, SIGMA-2 SUBUNIT; AP3S2 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 4, 22-KD;; CLATHRIN ADAPTOR COMPLEX AP3, SIGMA-3B SUBUNIT
Caret 602417 MOVED TO 602974
NULL 602418 WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME
Asterisk 602419 EARLY GROWTH RESPONSE 3; EGR3
Asterisk 602420 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 10; KCNA10
Asterisk 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 7; ABCC7
Asterisk 602422 STEM-LOOP BINDING PROTEIN; SLBP HAIRPIN BINDING PROTEIN, HISTONE; HBP
Asterisk 602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3 LIVER X RECEPTOR, ALPHA;; LX RECEPTOR, ALPHA; LXRA
Asterisk 602424 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 1; DMRT1 DM-DOMAIN GENE EXPRESSED IN TESTIS; DMT1
Asterisk 602425 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 4; MAP3K4 MAP/ERK KINASE KINASE 4; MEKK4;; MAP THREE KINASE 1; MTK1;; MAPKKK4;; SSK2/SSK22 MAP KINASE KINASE KINASE, YEAST, HOMOLOG OF;; KIAA0213
Asterisk 602426 NUCLEAR VALOSIN-CONTAINING PROTEIN-LIKE; NVL NUCLEAR VCP-LIKE
Asterisk 602427 T-BOX 6; TBX6
Asterisk 602428 HYALURONAN SYNTHASE 3; HAS3
Percent 602429 GLAUCOMA 1, OPEN ANGLE, D; GLC1D GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET
Asterisk 602430 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 1; ROBO1 SAX3, C. ELEGANS, HOMOLOG OF, 1 DELETED IN U TWENTY TWENTY, INCLUDED; DUTT1, INCLUDED
Asterisk 602431 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 2; ROBO2 SAX3, C. ELEGANS, HOMOLOG OF, 2;; KIAA1568
Asterisk 602432 OPTINEURIN; OPTN 14.7K-INTERACTING PROTEIN; FIP2;; HYPL;; TRANSCRIPTION FACTOR IIIA-INTERACTING PROTEIN;; TFIIIA-INTP;; NEMO-RELATED PROTEIN; NRP;; GLC1E GENE
Number Sign 602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4 NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES
Asterisk 602434 ANCIENT UBIQUITOUS PROTEIN 1; AUP1
Asterisk 602435 PEPTIDYL-PROLYL ISOMERASE E; PPIE CYCLOPHILIN, 33-KD; CYP33;; CYCLOPHILIN E
Asterisk 602436 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B; MICB
Asterisk 602437 GTP CYCLOHYDROLASE I FEEDBACK REGULATORY PROTEIN; GCHFR GFRP
Asterisk 602438 HEAT-SHOCK TRANSCRIPTION FACTOR 4; HSF4
Caret 602439 MOVED TO 601626
Percent 602440 AMYOTROPHY, MONOMELIC HIRAYAMA DISEASE;; SPINAL MUSCULAR ATROPHY, JUVENILE, NONPROGRESSIVE
Asterisk 602441 CYTOKINE-INDUCIBLE SH2-CONTAINING PROTEIN; CISH CIS
Asterisk 602442 INTERSECTIN 1; ITSN1 ITSN;; SH3 DOMAIN PROTEIN 1A; SH3D1A;; SRC HOMOLOGY 3 DOMAIN-CONTAINING PROTEIN;; SH3P17
Asterisk 602443 X-PROLYL AMINOPEPTIDASE 1; XPNPEP1 X-PROLYL AMINOPEPTIDASE-LIKE; XPNPEPL;; AMINOPEPTIDASE P-LIKE;; AMINOPEPTIDASE P, SOLUBLE; SAMP;; AMINOPEPTIDASE P, CYTOSOLIC;; APP1
Asterisk 602444 TRANSCRIPTION FACTOR 17; TCF17 KID1, RAT, HOMOLOG OF
Asterisk 602445 SERINE PROTEASE INHIBITOR, CLADE I, MEMBER 1; SERPINI1 PROTEASE INHIBITOR 12; PI12;; NEUROSERPIN
Asterisk 602446 GLYPICAN 5; GPC5
Asterisk 602447 PARAOXONASE 2; PON2
Asterisk 602448 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 5; MAP3K5 MAP/ERK KINASE KINASE 5; MEKK5;; MAPKKK5;; APOPTOSIS SIGNAL-REGULATING KINASE 1; ASK1
Asterisk 602449 A-KINASE ANCHOR PROTEIN 1; AKAP1 A-KINASE ANCHOR PROTEIN, 149-KD; AKAP149;; SPERMATID A-KINASE ANCHOR PROTEIN 84; SAKAP84
Number Sign 602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION RS-SCID;; SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED; SCIDA, INCLUDED;; ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY, INCLUDED;; SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL, INCLUDED
Asterisk 602451 PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 6; P2RY6 PURINOCEPTOR P2Y6; P2Y6
Asterisk 602452 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF; BUB1 BUB1, S. CEREVISIAE, HOMOLOG OF;; MITOTIC CHECKPOINT GENE BUB1;; BUB1A
Asterisk 602453 INTEGRIN, ALPHA-D; ITGAD CD11D
Asterisk 602454 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, U; PTPRU PROTEIN-TYROSINE PHOSPHATASE J; PTPJ;; PANCREATIC CARCINOMA PHOSPHATASE 2; PCP2;; PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, PSI;; PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, LAMBDA, MOUSE, HOMOLOG OF
Caret 602455 MOVED TO 605271
Caret 602456 REMOVED FROM DATABASE
Asterisk 602457 FAS-ASSOCIATED VIA DEATH DOMAIN; FADD FAS-ASSOCIATING PROTEIN WITH DEATH DOMAIN;; MORT1
Asterisk 602458 SORTILIN; SORT1 NEUROTENSIN RECEPTOR 3; NTSR3; NT3;; NEUROTENSIN RECEPTOR, 100-KD SORT1 TRANSCRIPTION FACTOR BINDING SITE 1, INCLUDED;; SORT1-TBS1, INCLUDED
Number Sign 602459 DEAFNESS, AUTOSOMAL DOMINANT 15; DFNA15
Asterisk 602460 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 3; POU4F3 POU-DOMAIN TRANSCRIPTION FACTOR BRN3C; BRN3C;; BRN3.1, MOUSE, HOMOLOG OF
Asterisk 602461 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR TYPE, SUBSTRATE 1; PTPNS1 SIGNAL REGULATORY PROTEIN, ALPHA TYPE, 1;; SIRP-ALPHA-1;; SIRPA;; SHP SUBSTRATE 1; SHPS1;; TYROSINE PHOSPHATASE SHP SUBSTRATE 1;; P84;; MYD1;; MACROPHAGE FUSION RECEPTOR, MFR
Asterisk 602462 COLLAPSIN RESPONSE MEDIATOR PROTEIN 1; CRMP1 DIHYDROPYRIMIDINASE-LIKE 1; DPYSL1;; DIHYDROPYRIMIDINASE-RELATED PROTEIN 1; DRP1
Asterisk 602463 DIHYDROPYRIMIDINASE-LIKE 2; DPYSL2 DIHYDROPYRIMIDINASE-RELATED PROTEIN 2; DRP2;; COLLAPSIN RESPONSE MEDIATOR PROTEIN 2; CRMP2
Asterisk 602464 TNF RECEPTOR-ASSOCIATED FACTOR 4; TRAF4 MALIGNANT 62; MLN62;; CYSTEINE-RICH DOMAIN ASSOCIATED WITH RING AND TRAF DOMAINS; CART1
Asterisk 602465 SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1
Asterisk 602466 SPROUTY, DROSOPHILA, HOMOLOG OF, 2; SPRY2
Caret 602467 MOVED TO 300531
Asterisk 602468 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9A; PPP1R9A NEURABIN I; NRBI; NRB1;; KIAA1222
Asterisk 602469 FOLATE RECEPTOR 3; FOLR3 FOLATE RECEPTOR, GAMMA
Asterisk 602470 PROSTATE STEM CELL ANTIGEN; PSCA
Number Sign 602471 SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES; SAMS
NULL 602472 CREASES, INFRA-AURICULAR CUTANEOUS, WITH TALL STATURE AND ADVANCED BONE AGE
Number Sign 602473 ENCEPHALOPATHY, ETHYLMALONIC; EE
Asterisk 602474 PROTEIN KINASE, MEMBRANE-ASSOCIATED TYROSINE/THREONINE, 1; PKMYT1 CDC2-INHIBITORY KINASE, MEMBRANE-ASSOCIATED TYROSINE/THREONINE, 1; MYT1
Percent 602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL
Caret 602476 MOVED TO 121210
Percent 602477 FEBRILE SEIZURES, FAMILIAL, 2; FEB2 CONVULSIONS, FAMILIAL FEBRILE, 2
Asterisk 602478 tRNA ASPARTIC ACID METHYLTRANSFERASE 1; TRDMT1 DNA METHYLTRANSFERASE 2; DNMT2
Asterisk 602479 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 1; POU3F1 OCT6;; SCIP
Asterisk 602480 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 3; POU3F3 BRN1, MOUSE, HOMOLOG OF; BRN1
Number Sign 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 MHP2 MIGRAINE, FAMILIAL BASILAR, INCLUDED
Number Sign 602482 AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3 AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS;; ANTERIOR CHAMBER CLEAVAGE SYNDROME;; RIEGER SYNDROME, TYPE 3
Number Sign 602483 AURICULOCONDYLAR SYNDROME 1; ARCND1 QUESTION MARK EARS SYNDROME
NULL 602484 PELVIC HYPOPLASIA WITH LOWER-LIMB ARTHROGRYPOSIS
Number Sign 602485 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3
Asterisk 602486 PROCESSING OF PRECURSOR 1, S. CEREVISIAE, HOMOLOG OF; POP1
Asterisk 602487 HEAT-RESPONSIVE PROTEIN 12; HRSP12 PERCHLORIC ACID-SOLUBLE PROTEIN, 14.5-KD; PSP;; p14.5;; UK114
Asterisk 602488 CYTOHESIN 2; CYTH2 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 2; PSCD2;; ARF NUCLEOTIDE-BINDING SITE OPENER; ARNO;; PSCD2L, FORMERLY
Asterisk 602489 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED PROTEIN 1; KHDRBS1 GAP-ASSOCIATED TYROSINE PHOSPHOPROTEIN, 62-KD;; SRC-ASSOCIATED PROTEIN IN MITOSIS, 68-KD; SAM68
Asterisk 602490 NUCLEAR RECEPTOR-INTERACTING PROTEIN 1; NRIP1 RECEPTOR-INTERACTING PROTEIN 140; RIP140
Number Sign 602491 HYPERLIPIDEMIA, COMBINED, 1 HYPLIP1;; HYPERLIPIDEMIA, FAMILIAL COMBINED, 1; FCHL1
Asterisk 602492 PENTRAXIN 3, LONG; PTX3 PENTRAXIN 3
Asterisk 602493 UV RADIATION RESISTANCE-ASSOCIATED GENE; UVRAG
Asterisk 602494 CHEMOKINE, CC MOTIF, LIGAND 23; CCL23 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 23; SCYA23;; MYELOID PROGENITOR INHIBITORY FACTOR 1; MPIF1;; CK-BETA-8
Asterisk 602495 CHEMOKINE, CC MOTIF, LIGAND 24; CCL24 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 24; SCYA24;; MYELOID PROGENITOR INHIBITORY FACTOR 2; MPIF2;; EOTAXIN 2
Asterisk 602496 MERCAPTOPYRUVATE SULFURTRANSFERASE; MPST MST
NULL 602497 CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC, AUTOSOMAL BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA; BCDP
Asterisk 602498 TRK-FUSED GENE; TFG TRKT3 ONCOGENE, INCLUDED;; TFG/NTRK1 FUSION GENE, INCLUDED;; TFG/NR4A3 FUSION GENE, INCLUDED
Number Sign 602499 MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA; MACOM
Asterisk 602500 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY B, 1; GOLGB1 GIANTIN;; MACROGOLGIN;; GCP372
Number Sign 602501 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP MACROCEPHALY-CAPILLARY MALFORMATION; MCM;; MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME;; MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA; MCMTC;; MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA
Asterisk 602502 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 1; GOLGA1 GOLGIN 97
Asterisk 602503 FREQUENTLY REARRANGED IN ADVANCED T-CELL LYMPHOMAS; FRAT1
Asterisk 602504 SHORT STATURE HOMEOBOX 2; SHOX2 SHOX HOMOLOGOUS GENE ON CHROMOSOME THREE; SHOT
Asterisk 602505 PAXILLIN; PXN
Caret 602506 MOVED TO 143055
Asterisk 602507 ZINC FINGER PROTEIN 103, MOUSE, HOMOLOG OF; ZFP103 KF1
Asterisk 602508 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, BETA SUBUNIT; PAFAH1B2
Asterisk 602509 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 4; GOLGA4 TRANS-GOLGI p230;; GOLGIN 245
Asterisk 602510 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, H; PTPRH
NULL 602511 PSEUDOACROMEGALY WITH SEVERE INSULIN RESISTANCE
Asterisk 602512 REGULATOR OF G PROTEIN SIGNALING 12; RGS12
Asterisk 602513 REGULATOR OF G PROTEIN SIGNALING 14; RGS14
Asterisk 602514 REGULATOR OF G PROTEIN SIGNALING 16; RGS16
Asterisk 602515 PHOSPHOLIPASE D1, GLYCOSYLPHOSPHATIDYLINOSITOL-SPECIFIC; GPLD1 PHOSPHOLIPASE D, PHOSPHATIDYLINOSITOL-GLYCAN-SPECIFIC; PIGPLD;; GLYCOSYLPHOSPHATIDYLINOSITOL-SPECIFIC PHOSPHOLIPASE D; GPIPLD
Asterisk 602516 REGULATOR OF G PROTEIN SIGNALING 4; RGS4
Asterisk 602517 REGULATOR OF G PROTEIN SIGNALING 7; RGS7
Asterisk 602518 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 4; LGALS4 GALECTIN 4; GAL4
Asterisk 602519 UBIQUITIN-SPECIFIC PROTEASE 7; USP7 UBIQUITIN-SPECIFIC PROTEASE, HERPESVIRUS-ASSOCIATED;; HERPESVIRUS-ASSOCIATED UBIQUITIN-SPECIFIC PROTEASE; HAUSP;; VMW110-ASSOCIATED PROTEIN, 135-KD
Asterisk 602520 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 5; MAP2K5 PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 5; PRKMK5;; MAPK/ERK KINASE 5; MEK5;; MAPKK5
Asterisk 602521 MITOGEN-ACTIVATED PROTEIN KINASE 7; MAPK7 PROTEIN KINASE, MITOGEN-ACTIVATED, 7; PRKM7;; EXTRACELLULAR SIGNAL-REGULATED KINASE 5; ERK5
Number Sign 602522 BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS; BSND SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, INCLUDED
Asterisk 602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM
Asterisk 602524 PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 1; PDK1
Asterisk 602525 PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 2; PDK2
Caret 602526 MOVED TO 300906
Asterisk 602527 PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 4; PDK4
Asterisk 602528 TUBULIN, ALPHA-3C; TUBA3C TUBULIN, ALPHA-2; TUBA2
Asterisk 602529 TUBULIN, ALPHA-1A; TUBA1A TUBULIN, ALPHA, BRAIN-SPECIFIC;; B-ALPHA-1;; TUBA3
Asterisk 602530 TUBULIN, ALPHA-1B; TUBA1B TUBULIN, ALPHA, UBIQUITOUS;; K-ALPHA-1
Number Sign 602531 GRANGE SYNDROME; GRNG ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY;; GRANGE OCCLUSIVE ARTERIAL SYNDROME
Asterisk 602532 SIX-TWELVE LEUKEMIA GENE STL
Asterisk 602533 ONCOGENE DJ1; DJ1 PARK7 GENE; PARK7
Asterisk 602534 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 23-KD; SNAP23 SNAP23A SNAP23B, INCLUDED;; SNAP23C, INCLUDED;; SNAP23D, INCLUDED;; SNAP23E, INCLUDED
Number Sign 602535 MARSHALL-SMITH SYNDROME; MRSHSS
Asterisk 602536 RAB3 GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT; RAB3GAP1 RAB3GAP;; RAB3GAP, 130-KD SUBUNIT;; RAB3GAP, CATALYTIC SUBUNIT;; p130;; WARBM1 GENE;; KIAA0066
Asterisk 602537 CALPAIN 5; CAPN5 HTRA3
Asterisk 602538 CUGBP- AND ELAV-LIKE FAMILY, MEMBER 2; CELF2 CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 2; CUGBP2;; RNA-BINDING PROTEIN ETR3; ETR3;; BRUNO-LIKE 3; BRUNOL3
Asterisk 602539 MITOGEN-ACTIVATED KINASE KINASE KINASE 3; MAP3K3 MAP/ERK KINASE KINASE 3; MEKK3;; MAPKKK3
Number Sign 602540 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS HID SYNDROME
Number Sign 602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC MUSCULAR DYSTROPHY, CONGENITAL, WITH MITOCHONDRIAL STRUCTURAL ABNORMALITIES
Asterisk 602542 BASIC TRANSCRIPTION FACTOR 3; BTF3 NASCENT POLYPEPTIDE-ASSOCIATED COMPLEX, BETA POLYPEPTIDE; NACB;; BETA-NAC BTF3A, INCLUDED;; BTF3B, INCLUDED
Asterisk 602543 BASIC TRANSCRIPTION FACTOR 3-LIKE 1; BTF3L1
Asterisk 602544 PARKIN; PARK2 PRKN FRAGILE SITE FRA6E, INCLUDED
Asterisk 602545 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, KAPPA; PTPRK
Asterisk 602546 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 2; ST8SIA2 ALPHA-2,8-SIALYLTRANSFERASE II;; ST8SIA II;; SIALYLTRANSFERASE 8B; SIAT8B;; SIALYLTRANSFERASE X; STX
Asterisk 602547 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 4; ST8SIA4 ALPHA-2,8-SIALYLTRANSFERASE IV;; ST8SIA IV;; POLYSIALYLTRANSFERASE; PST;; PST1
Asterisk 602548 OPIOID RECEPTOR-LIKE 1; OPRL1 ORL1;; LC132 RECEPTOR, RAT, HOMOLOG OF;; NOCICEPTIN RECEPTOR; NOCIR;; NOCICEPTIN/ORPHANIN FQ (N/OFQ) PEPTIDE RECEPTOR; NOP
Asterisk 602549 PROTEIN KINASE N2; PKN2 PROTEIN KINASE C-LIKE 2; PRKCL2;; PROTEIN-KINASE C-RELATED KINASE 2; PRK2;; PAK2, RAT, HOMOLOG OF
Asterisk 602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE PROTEIN; ARNTL BRAIN AND MUSCLE ARNT-LIKE PROTEIN 1; BMAL1;; TIC, MOUSE, HOMOLOG OF;; MEMBER OF PAS SUPERFAMILY 3; MOP3;; CYCLE, DROSOPHILA, HOMOLOG OF
NULL 602551 JEJUNAL ATRESIA WITH RENAL ADYSPLASIA
Asterisk 602552 NUCLEOPORIN, 88-KD; NUP88
NULL 602553 ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION
NULL 602554 TORSION DYSTONIA WITH ONSET IN INFANCY
NULL 602555 MICROCEPHALY, MACROTIA, AND MENTAL RETARDATION
NULL 602556 FACIAL DYSMORPHISM, CLEFT PALATE, HEARING LOSS, AND CAMPTODACTYLY
Number Sign 602557 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE; SEMDSH SEMD, SHOHAT TYPE
NULL 602558 CRANIOMICROMELIC SYNDROME
Asterisk 602559 EXPORTIN 1; XPO1 REQUIRED FOR CHROMOSOME REGION MAINTENANCE; CRM1
Asterisk 602560 TRACHEAL ANTIMICROBIAL PEPTIDE TAP
NULL 602561 BRACHYDACTYLY, INTRAVENTRICULAR SEPTAL DEFECT, AND DEAFNESS
NULL 602562 MANDIBULOFACIAL DYSOSTOSIS WITH MACROBLEPHARON AND MACROSTOMIA VERLOES-LESENFANTS SYNDROME;; MACROBLEPHARON, ECTROPION, HYPERTELORISM, AND MACROSTOMIA; MEHM
Asterisk 602563 NK6, DROSOPHILA, HOMOLOG OF, 1; NKX6-1 NKX6.1;; NK HOMEOBOX, FAMILY 6, MEMBER A;; HOMEOBOX 6A, NK; NKX6A
NULL 602564 EMPHYSEMA, CONGENITAL, WITH DEAFNESS, PENOSCROTAL WEB, AND MENTAL RETARDATION
Asterisk 602565 CHEMOKINE, CC MOTIF, LIGAND 25; CCL25 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 25; SCYA25;; THYMUS-EXPRESSED CHEMOKINE; TECK
Asterisk 602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7 PURINOCEPTOR P2X7; P2X7
Asterisk 602567 LIM AND SENESCENT CELL ANTIGEN-LIKE DOMAINS 1; LIMS1 PARTICULARLY INTERESTING NEW CYS-HIS PROTEIN; PINCH; PINCH1
Asterisk 602568 METHIONINE SYNTHASE REDUCTASE; MTRR MSR
Asterisk 602569 SYNUCLEIN, BETA; SNCB
Asterisk 602570 JAGGED 2; JAG2 SERRATE 2; SER2
Asterisk 602571 RNA-BINDING MOTIF PROTEIN 4; RBM4 LARK, DROSOPHILA, HOMOLOG OF
Asterisk 602572 ANNEXIN A11; ANXA11 ANNEXIN XI; ANX11;; AUTOANTIGEN, 56-KD
Asterisk 602573 ANNEXIN A13; ANXA13 ANNEXIN XIII; ANX13;; ANNEXIN, INTESTINE-SPECIFIC; ISA
Asterisk 602574 TECTORIN, ALPHA; TECTA
Asterisk 602575 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, BETA; LMX1B LMX1.2
Asterisk 602576 LUNATIC FRINGE; LFNG FRINGE, DROSOPHILA, HOMOLOG OF, LUNATIC
Asterisk 602577 MANIC FRINGE; MFNG FRINGE, DROSOPHILA, HOMOLOG OF, MANIC
Asterisk 602578 RADICAL FRINGE; RFNG FRINGE, DROSOPHILA, HOMOLOG OF, RADICAL
Number Sign 602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B CDG Ib; CDGIb;; CDG, GASTROINTESTINAL TYPE;; MANNOSEPHOSPHATE ISOMERASE DEFICIENCY;; MPI DEFICIENCY;; PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME;; SAGUENAY-LAC SAINT-JEAN SYNDROME;; SLSJ SYNDROME
Asterisk 602580 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 2; GOLGA2 GOLGIN 95;; GM130
Asterisk 602581 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 3; GOLGA3 GOLGIN 160;; MEA2
Asterisk 602582 DELTEX, DROSOPHILA, HOMOLOG OF, 1; DTX1
Asterisk 602583 G PROTEIN-COUPLED RECEPTOR 37; GPR37 PARKIN-ASSOCIATED ENDOTHELIN RECEPTOR-LIKE RECEPTOR; PAELR
Asterisk 602584 RETICULOCALBIN 2; RCN2 ENDOPLASMIC RETICULUM CALCIUM-BINDING PROTEIN, 55-KD; ERC55;; TCBP49
Caret 602585 MOVED TO 164280
Caret 602586 MOVED TO 602857
Asterisk 602587 ACYL-CoA THIOESTERASE 7; ACOT7 ACYL-CoA THIOESTERASE, LONG-CHAIN, CYTOSOLIC;; ACYL-CoA THIOESTERASE ; ACT;; CTE-II;; ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 2;; ACYL-CoA HYDROLASE, LONG-CHAIN, BRAIN; BACH;; ACYL-CoA HYDROLASE, LONG-CHAIN, LIVER; LACH;; ACYL-CoA THIOESTERASE 2, FORMERLY
Number Sign 602588 BRANCHIOOTIC SYNDROME 1; BOS1 BO SYNDROME 1;; BRANCHIOOTIC DYSPLASIA ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT, INCLUDED
Asterisk 602589 FUCOSYLTRANSFERASE 8; FUT8 ALPHA-1,6-FUCOSYLTRANSFERASE
Asterisk 602590 p21 PROTEIN-ACTIVATED KINASE 1; PAK1 p21 CDC42/RAC1-ACTIVATED KINASE 1
Asterisk 602591 KINESIN HEAVY CHAIN MEMBER 2A; KIF2A KIF2
Asterisk 602592 LYMPHOCYTE ANTIGEN CD5-LIKE; CD5L SCAVENGER RECEPTOR CYSTEINE-RICH FAMILY, MEMBER SP-ALPHA;; SP-ALPHA;; APOPTOSIS INHIBITOR 6; API6;; APOPTOSIS INHIBITOR OF MACROPHAGES; AIM
Asterisk 602593 CORNEODESMOSIN; CDSN S GENE
Percent 602594 RETINITIS PIGMENTOSA 22; RP22
Asterisk 602595 GEM-ASSOCIATED PROTEIN 2; GEMIN2 SMN-INTERACTING PROTEIN 1; SIP1
NULL 602596 PANCREATIC LYMPHOMA, FAMILIAL
Asterisk 602597 B-CELL CLL/LYMPHOMA 9; BCL9 LEGLESS, DROSOPHILA, HOMOLOG OF; LGS
Asterisk 602598 PROSTAGLANDIN D2 SYNTHASE, HEMATOPOIETIC; HPGDS PGDS
Caret 602599 MOVED TO 602631
Asterisk 602600 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 8; LRP8 APOLIPOPROTEIN E RECEPTOR 2; APOER2
Asterisk 602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1 LECTIN-LIKE OXIDIZED-LDL RECEPTOR 1; LOX1;; OXIDIZED LOW DENSITY LIPOPROTEIN RECEPTOR 1
Asterisk 602602 SECRETED AND TRANSMEMBRANE 1; SECTM1 K12
Asterisk 602603 MAGO NASHI, DROSOPHILA, HOMOLOG OF; MAGOH
Caret 602604 MOVED TO 602323
Caret 602605 MOVED TO 602221
Asterisk 602606 COCAINE- AND AMPHETAMINE-REGULATED TRANSCRIPT CART
Asterisk 602607 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1; SLC22A1 ORGANIC CATION TRANSPORTER 1; OCT1
Asterisk 602608 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 2; SLC22A2 ORGANIC CATION TRANSPORTER 2; OCT2
Asterisk 602609 PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 3; PIK3C3 VPS34, YEAST, HOMOLOG OF
Asterisk 602610 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 4; PIK3R4 VPS15, YEAST, HOMOLOG OF;; p150
NULL 602611 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CORONAL CRANIOSYNOSTOSIS, CATARACTS, CLEFT PALATE, AND MENTAL RETARDATION
NULL 602612 CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE
NULL 602613 SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL
Asterisk 602614 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7; MAP3K7 TRANSFORMING GROWTH FACTOR-BETA-ACTIVATED KINASE 1; TAK1;; TGF-BETA-ACTIVATED KINASE 1 TAK1a, INCLUDED;; TAK1b, INCLUDED;; TAK1c, INCLUDED;; TAK1d, INCLUDED
Asterisk 602615 TAK1-BINDING PROTEIN 1; TAB1 TGF-BETA-ACTIVATED KINASE 1/MAP3K7-BINDING PROTEIN 1;; TAK1/MAP3K7-BINDING PROTEIN 1;; MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN 1; MAP3K7IP1
Asterisk 602616 ALPHA-1,6-MANNOSYL-GLYCOPROTEIN BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; MGAT2 GlcNAc-T II;; GnT II; GnT2;; UDP-N-ACETYLGLUCOSAMINE:ALPHA-6-D-MANNOSIDE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE II
Asterisk 602617 FORKHEAD BOX E1; FOXE1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 15; FKHL15;; THYROID TRANSCRIPTION FACTOR 2; TTF2;; TITF2
Asterisk 602618 C-TERMINAL-BINDING PROTEIN 1; CTBP1
Asterisk 602619 C-TERMINAL-BINDING PROTEIN 2; CTBP2
Asterisk 602620 LEGUMAIN; LGMN PROTEASE, CYSTEINE, 1; PRSC1;; ASPARAGINYL ENDOPEPTIDASE; AEP
Asterisk 602621 COXSACKIEVIRUS AND ADENOVIRUS RECEPTOR; CXADR CAR;; CVB3 BINDING PROTEIN;; COXSACKIEVIRUS B RECEPTOR
Asterisk 602622 DEOXYRIBONUCLEASE I-LIKE 2; DNASE1L2
Asterisk 602623 FK506-BINDING PROTEIN 5; FKBP5 FK506-BINDING PROTEIN, 51-KD; FKBP51;; FKBP54
Caret 602624 MOVED TO 602570
Asterisk 602625 MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING, 1; MAGI1 MEMBRANE-ASSOCIATED GUANYLATE KINASE WITH INVERTED STRUCTURE 1; MAGI1;; MAGUK WITH INVERTED STRUCTURE 1;; BAI1-ASSOCIATED PROTEIN 1; BAP1; BAIAP1;; WW DOMAIN-CONTAINING PROTEIN 3; WWP3;; TRINUCLEOTIDE REPEAT-CONTAINING GENE 19; TNRC19
Asterisk 602626 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN; IL1RAP IL1RACP
Asterisk 602627 CELL DIVISION CYCLE 6, S. CEREVISIAE, HOMOLOG OF; CDC6 CELL DIVISION CYCLE 18, S. POMBE, HOMOLOG-LIKE; CDC18L;; CELL CYCLE CONTROLLER CDC6
Asterisk 602628 FORKHEAD BOX N3; FOXN3 CHECKPOINT SUPPRESSOR 1; CHES1
Number Sign 602629 DYSTONIA 6, TORSION; DYT6 TORSION DYSTONIA, ADULT-ONSET, MIXED TYPE
Asterisk 602630 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR; TGIF TGFB-INDUCED FACTOR;; TG-INTERACTING FACTOR
Asterisk 602631 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 18; SLC22A18 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1-LIKE; SLC22A1L;; BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION 1, CANDIDATE A; BWSCR1A;; BECKWITH-WIEDEMANN REGION 1A; BWR1A;; IMPRINTED POLYSPECIFIC MEMBRANE TRANSPORTER 1; IMPT1;; ORGANIC-CATION TRANSPORTER-LIKE 2; ORCTL2;; TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT CANDIDATE GENE 5; TSSC5 BECKWITH-WIEDEMANN SYNDROME CRITICAL REGION, INCLUDED
Asterisk 602632 PODOCALYXIN-LIKE; PODXL PODOCALYXIN-LIKE PROTEIN; PCLP;; PODOCALYXIN; PC;; GP200
Asterisk 602633 FOUR-AND-A-HALF LIM DOMAINS 2; FHL2 DOWNREGULATED IN RHABDOMYOSARCOMA LIM PROTEIN; DRAL;; SLIM3
Asterisk 602634 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 9; DNAJB9 MICROVASCULAR ENDOTHELIAL DIFFERENTIATION GENE 1; MDG1;; ERDJ4
Asterisk 602635 DEFORMED EPIDERMAL AUTOREGULATORY FACTOR 1 HOMOLOG; DEAF1 DEAF1, DROSOPHILA, HOMOLOG OF;; SUPPRESSIN; SPN;; ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 5; ZMYND5
Asterisk 602636 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 8; PPP1R8 NUCLEAR INHIBITOR OF PROTEIN PHOSPHATASE 1; NIPP1;; ACTIVATOR OF RNA DECAY; ARD1;; RNase E, E. COLI, HOMOLOG OF
Asterisk 602637 SECRETED PHOSPHOPROTEIN 2; SPP2 SECRETED PHOSPHOPROTEIN, 24-KD; SPP24
Asterisk 602638 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 4; MCM4 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 4;; CELL DIVISION CYCLE 21, S. POMBE, HOMOLOG OF;; CDC21, S. POMBE, HOMOLOG OF
Percent 602639 TOOTH AGENESIS, SELECTIVE, 2; STHAG2 HYPODONTIA/OLIGODONTIA 2; HYD2
Asterisk 602640 N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE-LIKE 1; NAALADL1 ILEAL DIPEPTIDYLPEPTIDASE;; I100, RAT, HOMOLOG OF;; NAALADase L
Asterisk 602641 EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 1; EIF4A1 DDX2A
Asterisk 602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11 OSTEOPROTEGERIN LIGAND; OPGL;; RECEPTOR ACTIVATOR OF NF-KAPPA-B LIGAND; RANKL;; TNF-RELATED ACTIVATION-INDUCED CYTOKINE; TRANCE;; OSTEOCLAST DIFFERENTIATION FACTOR; ODF
Asterisk 602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B OSTEOPROTEGERIN; OPG;; OSTEOCLASTOGENESIS INHIBITORY FACTOR; OCIF
Asterisk 602644 TETRASPANIN 4; TSPAN4 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 7; TM4SF7;; TETRASPAN;; NOVEL ANTIGEN 2; NAG2
Asterisk 602645 SEMAPHORIN 3C; SEMA3C SEMAPHORIN E; SEMAE
Asterisk 602646 G PROTEIN-COUPLED RECEPTOR 35; GPR35 CHEMOKINE, CXC MOTIF, RECEPTOR 8; CXCR8
Asterisk 602647 NUCLEAR RNA EXPORT FACTOR 1; NXF1 TIP-ASSOCIATED PROTEIN; TAP;; MEX67, YEAST, HOMOLOG OF; MEX67
Asterisk 602648 ATYPICAL CHEMOKINE RECEPTOR 2; ACKR2 CHEMOKINE-BINDING PROTEIN 2; CCBP2;; CMKBR9;; D6
Asterisk 602649 COLD-INDUCIBLE RNA-BINDING PROTEIN; CIRBP CIRP
Asterisk 602650 SPECKLE-TYPE POZ PROTEIN; SPOP
Asterisk 602651 NARDILYSIN; NRD1 N-ARGININE DIBASIC CONVERTASE; NRD CONVERTASE
Asterisk 602652 KALLIKREIN-RELATED PEPTIDASE 6; KLK6 KALLIKREIN 6;; PROTEASE, SERINE, 9; PRSS9;; PROTEASE M;; ZYME;; NEUROSIN
Asterisk 602653 TECTORIN, BETA; TECTB
Asterisk 602654 FERM, ARHGEF, AND PLECKSTRIN DOMAINS-CONTAINING PROTEIN 1; FARP1 CHONDROCYTE-DERIVED EZRIN-LIKE PROTEIN; CDEP
Asterisk 602655 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1, ADAPTOR PROTEIN; SLC4A1AP KIDNEY ANION EXCHANGER ADAPTOR PROTEIN;; KANADAPTIN
Asterisk 602656 ENDONUCLEASE III-LIKE 1; NTHL1 ENDONUCLEASE III, E. COLI, HOMOLOG OF; NTH1;; OCTS3
Caret 602657 MOVED TO 300572
Asterisk 602658 PHOSPHODIESTERASE 2A, cGMP-STIMULATED; PDE2A
Asterisk 602659 MENAGE A TROIS 1; MNAT1 MAT1;; TFB3
Asterisk 602660 TUBULIN, BETA-4B; TUBB4B TUBULIN, BETA-2C; TUBB2C;; TUBULIN, BETA-2;; TUBULIN, BETA, CLASS IVB
Asterisk 602661 TUBULIN, BETA-3; TUBB3 TUBB4;; TUBULIN, BETA, CLASS III
Asterisk 602662 TUBULIN, BETA-4A; TUBB4A TUBB4;; TUBULIN, BETA, CLASS IVA
Asterisk 602663 PROLACTIN-RELEASING HORMONE; PRLH PRH;; PROLACTIN-RELEASING PEPTIDE; PRRP
Asterisk 602664 CASPASE 4, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP4 ICE AND CED3 HOMOLOG 2; ICH2;; CASPASE 11, MOUSE, HOMOLOG OF; CASP11
Asterisk 602665 CASPASE 5, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP5
Asterisk 602666 MYOSIN XVA; MYO15A MYOSIN XV; MYO15
Asterisk 602667 NIBRIN; NBN p95 PROTEIN OF THE MRE11/RAD50 COMPLEX;; NBS1
Number Sign 602668 MYOTONIC DYSTROPHY 2; DM2 DYSTROPHIA MYOTONICA 2;; PROXIMAL MYOTONIC MYOPATHY; PROMM;; MYOTONIC MYOPATHY, PROXIMAL;; RICKER SYNDROME
Asterisk 602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3 PITUITARY HOMEOBOX 3; PTX3
Asterisk 602670 POLYMERASE, DNA, EPSILON-2; POLE2 DPE2
Asterisk 602671 SOLUTE CARRIER FAMILY 37 (GLUCOSE-6-PHOSPHATE TRANSPORTER), MEMBER 4; SLC37A4 GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1;; GLUCOSE-6-PHOSPHATE TRANSLOCASE;; G6P TRANSLOCASE
Asterisk 602672 RAS-ASSOCIATED PROTEIN RAB13; RAB13
Asterisk 602673 KALLIKREIN-RELATED PEPTIDASE 10; KLK10 KALLIKREIN 10;; PROTEASE, SERINE-LIKE, 1; PRSSL1
Caret 602674 MOVED TO 601802
Asterisk 602675 ARGINYL AMINOPEPTIDASE; RNPEP AMINOPEPTIDASE B
Asterisk 602676 PHOSPHODIESTERASE 6D, cGMP-SPECIFIC, ROD, DELTA; PDE6D RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, DELTA SUBUNIT; PDED;; PDE-DELTA
Asterisk 602677 RING FINGER PROTEIN 5; RNF5 RING5;; RMA1
Asterisk 602678 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 3; MARK3 MICROTUBULE-ASSOCIATED PROTEIN/MICROTUBULE AFFINITY-REGULATING KINASE 3;; CDC25C-ASSOCIATED PROTEIN KINASE 1; CTAK1;; PAR1, C. ELEGANS, HOMOLOG OF, A; PAR1A
Asterisk 602679 PHOSPHATE CYTIDYLYLTRANSFERASE 2, ETHANOLAMINE; PCYT2 CYTIDYLYLTRANSFERASE, CTP-PHOSPHOETHANOLAMINE; ET;; ETHANOLAMINE-PHOSPHATE CYTIDYLYLTRANSFERASE
Asterisk 602680 RHO GTPase-ACTIVATING PROTEIN 5; ARHGAP5 GTPase-ACTIVATING PROTEIN, RHO, 5; RHOGAP5
Asterisk 602681 FORKHEAD BOX O3A; FOXO3A FOXO3;; FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FKHRL1;; FKHR-LIKE 1
Asterisk 602682 ADHESION G PROTEIN-COUPLED RECEPTOR B1; ADGRB1 BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 1; BAI1;; ANGIOGENESIS INHIBITORY FACTOR, GLIOMA-DERIVED; GDAIF
Asterisk 602683 ADHESION G PROTEIN-COUPLED RECEPTOR B2; ADGRB2 BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 2; BAI2
Asterisk 602684 ADHESION G PROTEIN-COUPLED RECEPTOR B3; ADGRB3 BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 3; BAI3
Percent 602685 MENTAL RETARDATION, SEVERE, WITH SPASTICITY AND PIGMENTARY TAPETORETINAL DEGENERATION MRST
Asterisk 602686 MITOTIC ARREST-DEFICIENT 1, YEAST, HOMOLOG-LIKE 1; MAD1L1 MITOTIC ARREST-DEFICIENT 1, YEAST, HOMOLOG OF;; MAD1, YEAST, HOMOLOG OF;; TAX-BINDING PROTEIN 181; TXBP181
Caret 602687 MOVED TO 603072
Asterisk 602688 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A/B; HNRNPAB APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE 1-BINDING PROTEIN 1;; APOBEC1-BINDING PROTEIN 1; ABBP1;; HNRPAB
Asterisk 602689 FASCIN ACTIN-BUNDLING PROTEIN 1; FSCN1 FASCIN, SEA URCHIN, HOMOLOG OF, 1;; SINGED, DROSOPHILA, HOMOLOG OF; SNL;; ACTIN-BUNDLING PROTEIN, 55-KD;; p55
Asterisk 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN; SDHD SUCCINATE DEHYDROGENASE 4, INTEGRAL MEMBRANE PROTEIN; SDH4
Asterisk 602691 NUCLEAR RECEPTOR COACTIVATOR 1; NCOA1 STEROID RECEPTOR COACTIVATOR 1; SRC1
Asterisk 602692 GLIOMA PATHOGENESIS-RELATED PROTEIN 1; GLIPR1 GLIPR;; RELATED TO TESTIS-SPECIFIC, VESPID, AND PATHOGENESIS PROTEINS 1; RTVP1
Asterisk 602693 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 3; MCM3 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 3;; REPLICATION LICENSING FACTOR, BETA SUBUNIT; RLFB;; P1 PROTEIN
Asterisk 602694 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4; NDUFS4 NADH-COENZYME Q REDUCTASE, 18-KD;; COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 18-KD SUBUNIT;; AQDQ
Asterisk 602695 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 12; TNFSF12 TNF-RELATED WEAK INDUCER OF APOPTOSIS; TWEAK TWEAK/APRIL SPLICED READ-THROUGH TRANSCRIPT, INCLUDED; TWEPRIL, INCLUDED
Asterisk 602696 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 5; MCM5 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 5;; CELL DIVISION CYCLE 46; CDC46
Asterisk 602697 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 11; P2RY11 P2RY11/PPAN SPLICED READ-THROUGH TRANSCRIPT, INCLUDED
Asterisk 602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 3; NFATC3 NFATX;; NFAT4
Asterisk 602699 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 4; NFATC4 NFAT3
Asterisk 602700 E1A-BINDING PROTEIN, 300-KD; EP300 p300
Asterisk 602701 SARCOLEMMAL-ASSOCIATED PROTEIN; SLMAP SLAP
Asterisk 602702 PERILIPIN 3; PLIN3 MANNOSE 6-PHOSPHATE RECEPTOR-BINDING PROTEIN 1; M6PRBP1;; MPR-BINDING PROTEIN, 47-KD;; MPR TAIL-INTERACTING PROTEIN, 47-KD; TIP47
Asterisk 602703 KATANIN, p80 SUBUNIT, B1; KATNB1
Asterisk 602704 MOUSE DOUBLE MINUTE 4 HOMOLOG; MDM4 p53-BINDING PROTEIN MDM4;; MDMX;; HDMX
Asterisk 602705 SYNAPSIN III; SYN3
Asterisk 602706 PROTEASOME 26S SUBUNIT, ATPase, 1; PSMC1 PROTEASE 26S, SUBUNIT 4; S4
Asterisk 602707 PROTEASOME 26S SUBUNIT, ATPase, 4; PSMC4 TAT-BINDING PROTEIN 7; TBP7;; PROTEASE 26S, SUBUNIT 6; S6
Asterisk 602708 PROTEASOME 26S SUBUNIT, ATPase, 6; PSMC6
Asterisk 602709 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 1; APBB1 FE65
Asterisk 602710 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 2; APBB2 FE65-LIKE 1; FE65L1
Asterisk 602711 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 3; APBB3 FE65-LIKE 2; FE65L2
Asterisk 602712 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 2; APBA2 X11-LIKE; X11L;; MUNC18-1-INTERACTING PROTEIN 2; MINT2;; X11-BETA
Asterisk 602713 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 9; ADAM9 MYELOMA CELL METALLOPROTEINASE; MCMP;; METALLOPROTEINASE-LIKE, DISINTEGRIN-LIKE, AND CYSTEINE-RICH PROTEIN 9; MDC9
Asterisk 602714 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 12; ADAM12 MELTRIN-ALPHA, MOUSE, HOMOLOG OF; MLTN
Asterisk 602715 LEIOMODIN 1; LMOD1 LEIOMODIN, SMOOTH MUSCLE; SMLMOD;; THYROID AND EYE MUSCLE AUTOANTIGEN, 64-KD;; THYROID-ASSOCIATED OPHTHALMOPATHY AUTOANTIGEN, 64-KD;; HASHIMOTO THYROIDITIS AUTOANTIGEN, 64-KD;; D1; 1D
Asterisk 602716 NEPHRIN; NPHS1 NPHN;; RENAL GLOMERULUS-SPECIFIC CELL ADHESION RECEPTOR
Asterisk 602717 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2D; GRIN2D N-METHYL-D-ASPARTATE RECEPTOR CHANNEL, SUBUNIT EPSILON-4; NMDAR2D
Asterisk 602718 TRANSFORMER 2, DROSOPHILA, HOMOLOG OF, ALPHA; TRA2A
Asterisk 602719 TRANSFORMER 2, DROSOPHILA, HOMOLOG OF, BETA; TRA2B TRA2-BETA;; HTRA2-BETA-1;; SPLICING FACTOR, ARGININE/SERINE-RICH, 10; SFRS10
Asterisk 602720 PARAOXONASE 3; PON3
Asterisk 602721 DISRUPTED MEIOTIC cDNA 1, YEAST, HOMOLOG OF; DMC1 LIM15
Number Sign 602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR RTA, DISTAL, AUTOSOMAL RECESSIVE;; RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PRESERVED HEARING RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS, INCLUDED
Number Sign 602723 PSORIASIS 2; PSORS2
Asterisk 602724 SEPTIN 5; SEPT5 PEANUT-LIKE 1; PNUTL1;; CELL DIVISION CYCLE-RELATED; CDCREL;; CDCREL1 PNUTL1/MLL FUSION GENE, INCLUDED
Asterisk 602725 INTERFERON-RELATED DEVELOPMENTAL REGULATOR 2; IFRD2 INTERFERON-RELATED PROTEIN
Asterisk 602726 CHLORIDE CHANNEL 6; CLCN6 CLC6
Asterisk 602727 CHLORIDE CHANNEL 7; CLCN7 CLC7
Asterisk 602728 SCAVENGER RECEPTOR CLASS A, MEMBER 3; SCARA3 MACROPHAGE SCAVENGER RECEPTOR-LIKE 1; MSRL1;; CELLULAR STRESS RESPONSE; CSR
Asterisk 602729 GAMMA-AMINOBUTYRIC ACID RECEPTOR, PI; GABRP GABA-A RECEPTOR, PI POLYPEPTIDE
Asterisk 602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B ACTRIIB
Asterisk 602731 FYN-BINDING PROTEIN; FYB ADHESION AND DEGRANULATION ADAPTOR PROTEIN; ADAP;; SLAP130;; p120/130
Asterisk 602732 RHO GTPase-ACTIVATING PROTEIN 1; ARHGAP1 GTPase-ACTIVATING PROTEIN, RHO, 1;; RHOGAP1;; RHOGAP;; CDC42GAP
Asterisk 602733 ALDEHYDE DEHYDROGENASE, FAMILY 9, SUBFAMILY A, MEMBER 1; ALDH9A1 ALDEHYDE DEHYDROGENASE 9; ALDH9;; E3
Asterisk 602734 PLASTIN 1; PLS1 INTESTINE-SPECIFIC PLASTIN;; I-PLASTIN;; FIMBRIN
Asterisk 602735 RETICULOCALBIN 1; RCN1
Asterisk 602736 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT C, ISOFORM 3; ATP5G3 MITOCHONDRIAL ATP SYNTHASE, SUBUNIT C, ISOFORM 3;; MITOCHONDRIAL ATP SYNTHASE, SUBUNIT 9, ISOFORM 3
Asterisk 602737 CHEMOKINE, CC MOTIF, LIGAND 21; CCL21 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 21; SCYA21;; SECONDARY LYMPHOID TISSUE CHEMOKINE; SLC;; EXODUS 2
Asterisk 602738 KARYOPHERIN BETA-1; KPNB1 IMPORTIN BETA-1
Asterisk 602739 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-1; PRKAA1 AMP-ACTIVATED PROTEIN KINASE, CATALYTIC, ALPHA-1;; AMPK-ALPHA-1
Asterisk 602740 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-1; PRKAB1 AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, BETA-1;; AMPK-BETA-1
Asterisk 602741 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-2; PRKAB2 AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, BETA-2;; AMPK-BETA-2
Asterisk 602742 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-1; PRKAG1 AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-1;; AMPK-GAMMA-1
Asterisk 602743 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2 AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;; AMPK-GAMMA-2
Asterisk 602744 GLYCERONEPHOSPHATE O-ACYLTRANSFERASE; GNPAT DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE; DHAPAT; DAPAT;; ACYL-CoA:DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE
Asterisk 602745 PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE I, BETA; PIP5K1B MSS4, YEAST, HOMOLOG OF;; STM7
Asterisk 602746 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14; TNFRSF14 HERPESVIRUS ENTRY MEDIATOR; HVEM;; HERPESVIRUS ENTRY MEDIATOR A; HVEA;; TR2
Asterisk 602747 DUAL-SPECIFICITY PHOSPHATASE 4; DUSP4 MAP KINASE PHOSPHATASE 2; MKP2;; VH1 HOMOLOGOUS PHOSPHATASE 2; HVH2
Asterisk 602748 DUAL-SPECIFICITY PHOSPHATASE 6; DUSP6 MAP KINASE PHOSPHATASE 3; MKP3;; PYST1
Asterisk 602749 DUAL-SPECIFICITY PHOSPHATASE 7; DUSP7 MAP KINASE PHOSPHATASE X; MKPX;; PYST2
Asterisk 602750 D-DOPACHROME TAUTOMERASE; DDT
Asterisk 602751 BTB AND CNC HOMOLOGY 1; BACH1 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR 1
Asterisk 602752 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 8; RGPD8 RGP8;; RANBP2-ALPHA;; RANBP2-LIKE 1; RANBP2L1
Asterisk 602753 ARISTALESS HOMEOBOX, DROSOPHILA, HOMOLOG OF; ARIX PHOX2A
Asterisk 602754 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 4; KCNN4 IK1;; SK4;; KCA4;; KCA3.1
Asterisk 602755 CYCLIN B2; CCNB2
Asterisk 602756 EPHRIN A2; EFNA2 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 6; EPLG6;; LIGAND OF EPH-RELATED KINASE 6; LERK6
Asterisk 602757 EPHRIN RECEPTOR EphB6; EPHB6 HUMAN KINASE-DEFECTIVE Eph-FAMILY RECEPTOR PROTEIN; HEP
Asterisk 602758 PHOSPHATIDYLINOSITOL 4-KINASE, CATALYTIC, BETA; PIK4CB PI4K-BETA; PI4KB;; PHOSPHATIDYLINOSITOL 4-KINASE, TYPE III, BETA;; PI4KIII-BETA;; PHOSPHATIDYLINOSITOL 4-KINASE, WORTMANNIN-SENSITIVE
Percent 602759 PROSTATE CANCER, HEREDITARY, 8 HPC8;; PREDISPOSING FOR PROSTATE CANCER; PCAP
Asterisk 602760 KERATIN 32, TYPE I; KRT32 K32;; KA26;; KERATIN, HAIR, ACIDIC, 2; KRTHA2;; KERATIN, HARD, TYPE I, 2; HA2
Asterisk 602761 KERATIN 33A, TYPE I; KRT33A K33A;; KA27;; KERATIN, HAIR, ACIDIC, 3A; KRTHA3A;; KERATIN, HARD, TYPE I, 3I; HA3I
Asterisk 602762 KERATIN 33B, TYPE I; KRT33B K33B;; KA28;; KERATIN, HAIR, ACIDIC, 3B; KRTHA3B;; KERATIN, HARD, TYPE I, 3II; HA3II
Asterisk 602763 KERATIN 34, TYPE I; KRT34 K34;; KA29;; KERATIN, HAIR, ACIDIC, 4; KRTHA4;; KERATIN, HARD, TYPE I, 4; HA4
Asterisk 602764 KERATIN 35, TYPE I; KRT35 K35;; KA30;; KERATIN, HAIR, ACIDIC, 5; KRTHA5;; KERATIN, HARD, TYPE I, 5; HA5
Asterisk 602765 KERATIN 83, TYPE II; KRT83 K83;; KB23;; K2.10;; KERATIN, HAIR, BASIC, 3; KRTHB3;; KERATIN, HARD, TYPE II, 3; HB3
Asterisk 602766 KERATIN 84, TYPE II; KRT84 K84;; KB24;; KERATIN, HAIR, BASIC, 4; KRTHB4;; KERATIN, HARD, TYPE II, 4; HB4
Asterisk 602767 KERATIN 85, TYPE II; KRT85 K85;; KB25;; K2.12;; KERATIN, HAIR, BASIC, 5; KRTHB5;; KERATIN, HARD, TYPE II, 5; HB5
Asterisk 602768 DELTA-LIKE 3; DLL3 DELTA, DROSOPHILA, HOMOLOG OF
Asterisk 602769 DNA METHYLTRANSFERASE 3A; DNMT3A
Asterisk 602770 CHROMOBOX HOMOLOG 2, DROSOPHILA POLYCOMB CLASS; CBX2 M33, MOUSE, HOMOLOG OF
Number Sign 602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 RIGID SPINE SYNDROME; RSS;; MYOPATHY, SEPN1-RELATED;; MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY; MDRS1;; MULTICORE MYOPATHY, SEVERE CLASSIC FORM;; MINICORE MYOPATHY, SEVERE CLASSIC FORM;; MULTIMINICORE DISEASE, SEVERE CLASSIC FORM;; DESMIN-RELATED MYOPATHY WITH MALLORY BODIES;; MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE
Number Sign 602772 RETINITIS PIGMENTOSA 25; RP25
Asterisk 602773 DISRUPTED IN RENAL CARCINOMA 2; DIRC2
Asterisk 602774 RAD51, S. CEREVISIAE, HOMOLOG OF, C; RAD51C
Asterisk 602775 SUPPRESSOR OF CLEAR, C. ELEGANS, HOMOLOG OF; SHOC2 RAS-BINDING PROTEIN SUR8, C. ELEGANS, HOMOLOG OF; SUR8
Asterisk 602776 REV3, S. CEREVISIAE, HOMOLOG OF; REV3L REV3;; POLYMERASE, DNA, ZETA; POLZ
Asterisk 602777 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 4; SNAPC4 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, 190-KD SUBUNIT; SNAP190;; PSE-BINDING TRANSCRIPTION FACTOR, ALPHA;; PTF-ALPHA
Asterisk 602778 NUCLEAR RECEPTOR SUBFAMILY 6, GROUP A, MEMBER 1; NR6A1 GERM CELL NUCLEAR FACTOR; GCNF;; RETINOID RECEPTOR-RELATED TESTIS-ASSOCIATED RECEPTOR; RTR
Asterisk 602779 COAGULATION FACTOR II RECEPTOR-LIKE 3; F2RL3 THROMBIN RECEPTOR-LIKE 3;; PROTEASE-ACTIVATED RECEPTOR 4; PAR4
Asterisk 602780 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 1; HCN1 BRAIN CYCLIC-NUCLEOTIDE GATED 1; BCNG1;; POTASSIUM CHANNEL, VOLTAGE-GATED, BRAIN, 1
Asterisk 602781 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 2; HCN2 BRAIN CYCLIC-NUCLEOTIDE GATED 2; BCNG2;; POTASSIUM CHANNEL, VOLTAGE-GATED, BRAIN, 2
Number Sign 602782 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC, AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS;; HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, AND HYPOGONADISM WITH OR WITHOUT HEARING LOSS;; H SYNDROME;; PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS; PHID;; HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS; HJCD;; FAISALABAD HISTIOCYTOSIS;; ROSAI-DORFMAN DISEASE, FAMILIAL;; SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY; SHML
Asterisk 602783 SPG7 GENE; SPG7 PARAPLEGIN; PGN;; CELL MATRIX ADHESION REGULATOR; CMAR;; CELL ADHESION REGULATOR; CAR
Asterisk 602784 CORTISTATIN; CORT
Asterisk 602785 H1 HISTONE FAMILY, MEMBER X; H1FX H1X
Asterisk 602786 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER E; HIST1H2AE HISTONE GENE CLUSTER 1, H2AE;; HIST1 CLUSTER, H2AE;; H2A HISTONE FAMILY, MEMBER A; H2AFA;; H2A/A;; H2A.1
Asterisk 602787 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER I; HIST1H2AI HISTONE GENE CLUSTER 1, H2AI;; HIST1 CLUSTER, H2AI;; H2A HISTONE FAMILY, MEMBER C; H2AFC;; H2A/C
Asterisk 602788 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER K; HIST1H2AK HISTONE GENE CLUSTER 1, H2AK;; HIST1 CLUSTER, H2AK;; H2A HISTONE FAMILY, MEMBER D; H2AFD;; H2A/D;; HIST1H2AI, FORMERLY
Caret 602789 MOVED TO 300163
Asterisk 602790 FOUR-AND-A-HALF LIM DOMAINS 3; FHL3 SLIM2
Asterisk 602791 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER J; HIST1H2AJ HISTONE GENE CLUSTER 1, H2AJ;; HIST1 CLUSTER, H2AJ;; H2A HISTONE FAMILY, MEMBER E; H2AFE;; H2A/E;; HIST1H2AK, FORMERLY
Asterisk 602792 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER D; HIST1H2AD HISTONE GENE CLUSTER 1, H2AD;; HIST1 CLUSTER, H2AD;; H2A HISTONE FAMILY, MEMBER G; H2AFG;; H2A/G
Asterisk 602793 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER L; HIST1H2AL HISTONE GENE CLUSTER 1, H2AL;; HIST1 CLUSTER, H2AL;; H2A HISTONE FAMILY, MEMBER I; H2AFI;; H2A/I
Asterisk 602794 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER C; HIST1H2AC HISTONE GENE CLUSTER 1, H2AC;; HIST1 CLUSTER, H2AC;; H2A HISTONE FAMILY, MEMBER L; H2AFL;; H2A/L
Asterisk 602795 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER B; HIST1H2AB HISTONE GENE CLUSTER 1, H2AB;; HIST1 CLUSTER, H2AB;; H2A HISTONE FAMILY, MEMBER M; H2AFM;; H2A/M
Asterisk 602796 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER M; HIST1H2AM HISTONE GENE CLUSTER 1, H2AM;; HIST1 CLUSTER, H2AM;; H2A HISTONE FAMILY, MEMBER N; H2AFN;; H2A/N;; H2A.1
Asterisk 602797 HISTONE GENE CLUSTER 2, H2A HISTONE FAMILY, MEMBER C; HIST2H2AC HISTONE GENE CLUSTER 2, H2AC;; HIST2 CLUSTER, H2AC;; H2A HISTONE FAMILY, MEMBER Q; H2AFQ;; H2A/Q
Asterisk 602798 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER G; HIST1H2BG HISTONE GENE CLUSTER 1, H2BG;; HIST1 CLUSTER, H2BG;; H2B HISTONE FAMILY, MEMBER A; H2BFA;; H2B/A;; H2B.1A
Asterisk 602799 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER D; HIST1H2BD HISTONE GENE CLUSTER 1, H2BD;; HIST1 CLUSTER, H2BD;; H2B HISTONE FAMILY, MEMBER B; H2BFB;; H2B/B;; H2B.1B
Asterisk 602800 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER L; HIST1H2BL HISTONE GENE CLUSTER 1, H2BL;; HIST1 CLUSTER, H2BL;; H2B HISTONE FAMILY, MEMBER C; H2BFC;; H2B/C
Asterisk 602801 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER N; HIST1H2BN HISTONE GENE CLUSTER 1, H2BN;; HIST1 CLUSTER, H2BN;; H2B HISTONE FAMILY, MEMBER D; H2BFD;; H2B/D
Asterisk 602802 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER M; HIST1H2BM HISTONE GENE CLUSTER 1, H2BM;; HIST1 CLUSTER, H2BM;; H2B HISTONE FAMILY, MEMBER E; H2BFE;; H2B/E
Asterisk 602803 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER B; HIST1H2BB HISTONE GENE CLUSTER 1, H2BB;; HIST1 CLUSTER, H2BB;; H2B HISTONE FAMILY, MEMBER F; H2BFF;; H2B/F;; H2B.1
Asterisk 602804 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER F; HIST1H2BF HISTONE GENE CLUSTER 1, H2BF;; HIST1 CLUSTER, H2BF;; H2B HISTONE FAMILY, MEMBER G; H2BFG;; H2B/G
Asterisk 602805 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER E; HIST1H2BE HISTONE GENE CLUSTER 1, H2BE;; HIST1 CLUSTER, H2BE;; H2B HISTONE FAMILY, MEMBER H; H2BFH;; H2B/H
Asterisk 602806 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER H; HIST1H2BH HISTONE GENE CLUSTER 1, H2BH;; HIST1 CLUSTER, H2BH;; H2B HISTONE FAMILY, MEMBER J; H2BFJ;; H2B/J
Asterisk 602807 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER I; HIST1H2BI HISTONE GENE CLUSTER 1, H2BI;; HIST1 CLUSTER, H2BI;; H2B HISTONE FAMILY, MEMBER K; H2BFK;; H2B/K
Asterisk 602808 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER O; HIST1H2BO HISTONE GENE CLUSTER 1, H2BO;; HIST1 CLUSTER, H2BO;; H2B HISTONE FAMILY, MEMBER N; H2BFN;; H2B/N;; H2B.2
Asterisk 602809 KINESIN FAMILY MEMBER 5B; KIF5B KINESIN 1 HEAVY CHAIN; KNS1;; KINESIN, HEAVY CHAIN, UBIQUITOUS; UKHC;; KINH
Asterisk 602810 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER A; HIST1H3A HISTONE GENE CLUSTER 1, H3A;; HIST1 CLUSTER, H3A;; H3 HISTONE FAMILY, MEMBER A; H3FA;; H3/A
Asterisk 602811 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER D; HIST1H3D HISTONE GENE CLUSTER 1, H3D;; HIST1 CLUSTER, H3D;; H3 HISTONE FAMILY, MEMBER B; H3FB;; H3/B
Asterisk 602812 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER C; HIST1H3C HISTONE GENE CLUSTER 1, H3C;; HIST1 CLUSTER, H3C;; H3 HISTONE FAMILY, MEMBER C; H3FC;; H3/C
Asterisk 602813 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER E; HIST1H3E HISTONE GENE CLUSTER 1, H3E;; HIST1 CLUSTER, H3E;; H3 HISTONE FAMILY, MEMBER D; H3FD;; H3/D
Asterisk 602814 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER I; HIST1H3I HISTONE GENE CLUSTER 1, H3I;; HIST1 CLUSTER, H3I;; H3 HISTONE FAMILY, MEMBER F; H3FF;; H3/F
Asterisk 602815 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER G; HIST1H3G HISTONE GENE CLUSTER 1, H3G;; HIST1 CLUSTER, H3G;; H3 HISTONE FAMILY, MEMBER H; H3FH;; H3/H
Asterisk 602816 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER F; HIST1H3F HISTONE GENE CLUSTER 1, H3F;; HIST1 CLUSTER, H3F;; H3 HISTONE FAMILY, MEMBER I; H3FI;; H3/I
Asterisk 602817 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER J; HIST1H3J HISTONE GENE CLUSTER 1, H3J;; HIST1 CLUSTER, H3J;; H3 HISTONE FAMILY, MEMBER J; H3FJ;; H3/J
Asterisk 602818 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER H; HIST1H3H HISTONE GENE CLUSTER 1, H3H;; HIST1 CLUSTER, H3H;; H3 HISTONE FAMILY, MEMBER K; H3FK;; H3/K
Asterisk 602819 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER B; HIST1H3B HISTONE GENE CLUSTER 1, H3B;; HIST1 CLUSTER, H3B;; H3 HISTONE FAMILY, MEMBER L; H3FL;; H3/L
Asterisk 602820 HISTONE GENE CLUSTER 3, H3 HISTONE; HIST3H3 HISTONE GENE CLUSTER 3, H3;; HIST3 CLUSTER, H3;; H3 HISTONE FAMILY, MEMBER T; H3FT; H3T;; H3.4
Asterisk 602821 KINESIN FAMILY MEMBER 5A; KIF5A KINESIN, HEAVY CHAIN, NEURON-SPECIFIC; NKHC
Asterisk 602822 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER A; HIST1H4A HISTONE GENE CLUSTER 1, H4A;; HIST1 CLUSTER, H4A;; H4 HISTONE FAMILY, MEMBER A; H4FA;; H4/A
Asterisk 602823 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER D; HIST1H4D HISTONE GENE CLUSTER 1, H4D;; HIST1 CLUSTER, H4D;; H4 HISTONE FAMILY, MEMBER B; H4FB;; H4/B
Asterisk 602824 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER F; HIST1H4F HISTONE GENE CLUSTER 1, H4F;; HIST1 CLUSTER, H4F;; H4 HISTONE FAMILY, MEMBER C; H4FC;; H4/C
Asterisk 602825 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER K; HIST1H4K HISTONE GENE CLUSTER 1, H4K;; HIST1 CLUSTER, H4K;; H4 HISTONE FAMILY, MEMBER D; H4FD;; H4/D
Asterisk 602826 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER J; HIST1H4J HISTONE GENE CLUSTER 1, H4J;; HIST1 CLUSTER, H4J;; H4 HISTONE FAMILY, MEMBER E; H4FE;; H4/E
Asterisk 602827 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER C; HIST1H4C HISTONE GENE CLUSTER 1, H4C;; HIST1 CLUSTER, H4C;; H4 HISTONE FAMILY, MEMBER G; H4FG;; H4/G
Asterisk 602828 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER H; HIST1H4H HISTONE GENE CLUSTER 1, H4H;; HIST1 CLUSTER, H4H;; H4 HISTONE FAMILY, MEMBER H; H4FH;; H4/H
Asterisk 602829 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER B; HIST1H4B HISTONE GENE CLUSTER 1, H4B;; HIST1 CLUSTER, H4B;; H4 HISTONE FAMILY, MEMBER I; H4FI;; H4/I
Asterisk 602830 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER E; HIST1H4E HISTONE GENE CLUSTER 1, H4E;; HIST1 CLUSTER, H4E;; H4 HISTONE FAMILY, MEMBER J; H4FJ; H4/J
Asterisk 602831 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER L; HIST1H4L HISTONE GENE CLUSTER 1, H4L;; HIST1 CLUSTER, H4L;; H4 HISTONE FAMILY, MEMBER K; H4FK;; H4/K
Asterisk 602832 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER G; HIST1H4G HISTONE GENE CLUSTER 1, H4G;; HIST1 CLUSTER, H4G;; H4 HISTONE FAMILY, MEMBER L; H4FL;; H4/L
Asterisk 602833 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER I; HIST1H4I HISTONE GENE CLUSTER 1, H4I;; HIST1 CLUSTER, H4I;; H4 HISTONE FAMILY, MEMBER M; H4FM; H4M H4FM/BCL6 FUSION GENE, INCLUDED
Caret 602834 MOVED TO 600279
Asterisk 602835 GROWTH ARREST-SPECIFIC 2; GAS2
Asterisk 602836 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 5; P2RX5 P2X5R; P2X5
Asterisk 602837 DNAJ/HSP40 HOMOLOG, SUBFAMILY A, MEMBER 1; DNAJA1 DJA1;; HEAT-SHOCK PROTEIN, DNAJ-LIKE 2; HDJ2; HSJ2; HSDJ;; HEAT-SHOCK 40-KD PROTEIN 4; HSPF4
Asterisk 602838 PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 2, BETA; PIK3C2B
Asterisk 602839 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, DELTA; PIK3CD PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, 110-KD, DELTA;; p110-DELTA;; PI3K-DELTA;; PIK3-DELTA
Asterisk 602840 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 7; TNFSF7 CD70 ANTIGEN; CD70;; CD27 LIGAND; CD27L
Asterisk 602841 ALDEHYDE OXIDASE 1; AOX1
Asterisk 602842 GEMININ; GMNN GEM
Asterisk 602843 RHO GDP-DISSOCIATION INHIBITOR BETA; ARHGDIB GDP-DISSOCIATION INHIBITOR D4; GDID4; D4;; LYGDI
Asterisk 602844 RHO GDP-DISSOCIATION INHIBITOR GAMMA; ARHGDIG RHOGDI-GAMMA
Asterisk 602845 KINESIN FAMILY MEMBER 3C; KIF3C
Asterisk 602846 UBIQUITIN-CONJUGATING ENZYME E2K; UBE2K HUNTINGTIN-INTERACTING PROTEIN 2; HIP2;; UBIQUITIN-CONJUGATING ENZYME E2-25K
Asterisk 602847 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER C; HIST1H2BC HISTONE GENE CLUSTER 1, H2BC;; HIST1 CLUSTER, H2BC;; H2B HISTONE FAMILY, MEMBER L; H2BFL;; H2B/L
Asterisk 602848 BROMODOMAIN-CONTAINING PROTEIN 8; BRD8 SKELETAL MUSCLE ABUNDANT PROTEIN; SMAP;; THYROID HORMONE RECEPTOR-INTERACTING PROTEIN p120
Number Sign 602849 MUENKE SYNDROME; MNKES MUENKE NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS
Asterisk 602850 RING FINGER PROTEIN 4; RNF4
Asterisk 602851 ADHESION G PROTEIN-COUPLED RECEPTOR V1; ADGRV1 G PROTEIN-COUPLED RECEPTOR 98; GPR98;; MONOGENIC AUDIOGENIC SEIZURE SUSCEPTIBILITY 1, MOUSE, HOMOLOG OF; MASS1;; VERY LARGE G PROTEIN-COUPLED RECEPTOR 1; VLGR1;; KIAA0686
Asterisk 602852 NUDIX HYDROLASE 2; NUDT2 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 2;; NUDIX MOTIF 2;; AP4A HYDROLASE 1; APAH1
Asterisk 602853 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, R; PTPRR PC12 PROTEIN-TYROSINE PHOSPHATASE; PCPTP1
Asterisk 602854 PROTEASOME SUBUNIT, ALPHA-TYPE, 1; PSMA1 PROTEASOME SUBUNIT NU;; HC2;; PROS30
Asterisk 602855 PROTEASOME SUBUNIT, ALPHA-TYPE, 6; PSMA6 PROTEASOME SUBUNIT IOTA;; PROS27;; p27K
Asterisk 602856 REGULATOR OF G PROTEIN SIGNALING 10; RGS10
Asterisk 602857 CHIMERIN 2; CHN2 CHIMERIN, BETA-2;; GTPase-ACTIVATING PROTEIN, RHO, 3; ARHGAP3;; RHO GTPase-ACTIVATING PROTEIN 3; RHOGAP3 CHIMERIN, BETA, INCLUDED;; CHIMERIN, BETA-1, INCLUDED;; CHIMERIN, TESTIS-SPECIFIC, INCLUDED
Asterisk 602858 7-DEHYDROCHOLESTEROL REDUCTASE; DHCR7 STEROL DELTA-7-REDUCTASE
Asterisk 602859 PEROXISOME BIOGENESIS FACTOR 10; PEX10 PEROXIN 10
Asterisk 602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF, BETA; BUB1B BUB1, S. CEREVISIAE, HOMOLOG OF, BETA;; MITOTIC CHECKPOINT GENE BUB1B;; BUBR1
Asterisk 602861 PLAKOPHILIN 2; PKP2
Asterisk 602862 UDP-N-ACETYLGLUCOSAMINE PYROPHOSPHORYLASE 1; UAP1 SPERM-ASSOCIATED ANTIGEN 2; SPAG2;; ANTIGEN X; AgX
Asterisk 602863 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 9A; WNT9A WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 14; WNT14
Asterisk 602864 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 9B; WNT9B WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 15; WNT15
Asterisk 602865 BONE MORPHOGENETIC PROTEIN/RETINOIC ACID-INDUCIBLE NEURAL-SPECIFIC PROTEIN 1; BRINP1 DELETED IN BLADDER CANCER 1; DBC1;; DELETED IN BLADDER CANCER CHROMOSOME REGION CANDIDATE 1; DBCCR1
Asterisk 602866 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 2; ACCN2 BRAIN SODIUM CHANNEL 2; BNAC2;; ACID-SENSING ION CHANNEL; ASIC;; ASIC1
Asterisk 602867 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 7; IGFBP7 IGF-BINDING PROTEIN-RELATED PROTEIN 1; IGFBPRP1;; MAC25;; PROSTACYCLIN-STIMULATING FACTOR; PSF;; ANGIOMODULIN; AGM
Asterisk 602868 CELL DIVISION CYCLE 5, S. POMBE, HOMOLOG OF; CDC5L CDC5-LIKE
Asterisk 602869 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U; HNRNPU HNRPU;; SCAFFOLD ATTACHMENT FACTOR A; SAFA
Asterisk 602870 INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 1; IMPG1 INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 150; IPM150
Asterisk 602871 PERIPLAKIN; PPL
Asterisk 602872 CHLORIDE INTRACELLULAR CHANNEL 1; CLIC1 NCC27
Asterisk 602873 NEBULIN-RELATED ANCHORING PROTEIN; NRAP
Asterisk 602874 UDP-GLUCOSE CERAMIDE GLUCOSYLTRANSFERASE; UGCG GLUCOSYLCERAMIDE SYNTHASE; GCS;; CERAMIDE GLUCOSYLTRANSFERASE
Number Sign 602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM ST. HELENA DYSPLASIA
Asterisk 602876 OCCLUDIN; OCLN
Asterisk 602877 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 7; PPP1R7 SDS22, S. POMBE, HOMOLOG OF
Asterisk 602878 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 3; SLC30A3 ZINC TRANSPORTER 3; ZNT3
Asterisk 602879 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 1; EPB41L1 NONERYTHROID PROTEIN 4.1, NEURON TYPE; 4.1N
Asterisk 602880 GROWTH/DIFFERENTIATION FACTOR 1; GDF1
Asterisk 602881 PHD FINGER PROTEIN 1; PHF1 POLYCOMBLIKE, DROSOPHILA, HOMOLOG OF, 1; PCL1;; PCL, DROSOPHILA, HOMOLOG OF, 1
Asterisk 602882 LEUKOCYTE CELL-DERIVED CHEMOTAXIN 2; LECT2
Asterisk 602883 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1A2; SLCO1A2 ORGANIC ANION TRANSPORTER A; OATPA;; ORGANIC ANION TRANSPORTER 1A2; OATP1A2;; SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 3, FORMERLY; SLC21A3, FORMERLY
Asterisk 602884 GDP-MANNOSE 4,6-DEHYDRATASE; GMDS GMD
Asterisk 602885 MOTILIN RECEPTOR; MLNR MOTILIN RECEPTOR 1; MTLR1;; G PROTEIN-COUPLED RECEPTOR 38; GPR38
Asterisk 602886 G PROTEIN-COUPLED RECEPTOR 39; GPR39
Asterisk 602887 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 4; DLG4 POSTSYNAPTIC DENSITY 95; PSD95;; SYNAPSE-ASSOCIATED PROTEIN 90; SAP90
Asterisk 602888 BETAINE-HOMOCYSTEINE METHYLTRANSFERASE; BHMT
Caret 602889 MOVED TO 601533
Asterisk 602890 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1; KLRB1 NKRP1A;; NKR;; CD161
Asterisk 602891 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 2; KLRC2 NKG2C
Asterisk 602892 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 3; KLRC3 NKG2E
Asterisk 602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4 NKG2F
Asterisk 602894 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY D, MEMBER 1; KLRD1 CD94 ANTIGEN; CD94
Asterisk 602895 SCAFFOLD ATTACHMENT FACTOR B; SAFB SAFB1;; HSP27 ESTROGEN RESPONSE ELEMENT- AND TATA BOX-BINDING PROTEIN; HET
Asterisk 602896 MITOGEN-ACTIVATED PROTEIN KINASE 9; MAPK9 PROTEIN KINASE, MITOGEN-ACTIVATED, 9; PRKM9;; C-JUN KINASE 2; JNK2
Asterisk 602897 MITOGEN-ACTIVATED PROTEIN KINASE 10; MAPK10 PROTEIN KINASE, MITOGEN-ACTIVATED, 10; PRKM10;; C-JUN KINASE 3; JNK3
Asterisk 602898 MITOGEN-ACTIVATED PROTEIN KINASE 11; MAPK11 PROTEIN KINASE, MITOGEN-ACTIVATED, 11; PRKM11;; STRESS-ACTIVATED PROTEIN KINASE 2B; SAPK2B;; p38-BETA;; p38-2;; p38-BETA-2
Asterisk 602899 MITOGEN-ACTIVATED PROTEIN KINASE 13; MAPK13 PROTEIN KINASE, MITOGEN-ACTIVATED, 13; PRKM13;; STRESS-ACTIVATED PROTEIN KINASE 4; SAPK4;; p38-DELTA
Asterisk 602900 DNA METHYLTRANSFERASE 3B; DNMT3B
Asterisk 602901 TRANSPORTIN 1; TNPO1 TRANSPORTIN;; KARYOPHERIN BETA-2; KPNB2;; M9-INTERACTING PROTEIN; MIP1;; IMPORTIN BETA-2
Asterisk 602902 KRUPPEL-LIKE FACTOR 9; KLF9 BASIC TRANSCRIPTION ELEMENT-BINDING PROTEIN 1; BTEB1;; BTEB
Asterisk 602903 KRUPPEL-LIKE FACTOR 5; KLF5 BASIC TRANSCRIPTION ELEMENT-BINDING PROTEIN 2; BTEB2
Asterisk 602904 MITOGEN-ACTIVATED PROTEIN KINASE 6; MAPK6 PROTEIN KINASE, MITOGEN-ACTIVATED, 6; PRKM6;; EXTRACELLULAR SIGNAL-REGULATED KINASE 3; ERK3;; p97MAPK
Asterisk 602905 POTASSIUM CHANNEL, VOLTAGE-GATED, DELAYED-RECTIFIER, SUBFAMILY S, MEMBER 1; KCNS1 VOLTAGE-GATED POTASSIUM CHANNEL 9.1; KV9.1
Asterisk 602906 POTASSIUM CHANNEL, VOLTAGE-GATED, DELAYED-RECTIFIER, SUBFAMILY S, MEMBER 2; KCNS2 VOLTAGE-GATED POTASSIUM CHANNEL 9.2; KV9.2
Asterisk 602907 CENTRIN 3; CETN3 CDC31, S. CEREVISIAE, HOMOLOG OF
Asterisk 602908 RETINOBLASTOMA-BINDING PROTEIN 9; RBBP9 B5T OVEREXPRESSED GENE; BOG;; RBBP10
Asterisk 602909 CLAUDIN 4; CLDN4 CLOSTRIDIUM PERFRINGENS ENTEROTOXIN RECEPTOR 1; CPETR1;; CLOSTRIDIUM PERFRINGENS ENTEROTOXIN RECEPTOR, HIGH AFFINITY;; ENTEROTOXIN OF CLOSTRIDIUM PERFRINGENS, RECEPTOR OF, 1;; CPER
Asterisk 602910 CLAUDIN 3; CLDN3 CLOSTRIDIUM PERFRINGENS ENTEROTOXIN RECEPTOR 2; CPETR2;; CLOSTRIDIUM PERFRINGENS ENTEROTOXIN RECEPTOR, LOW AFFINITY;; ENTEROTOXIN OF CLOSTRIDIUM PERFRINGENS, RECEPTOR OF, 2;; VENTRAL PROSTATE 1, RAT, HOMOLOG OF;; RVP1 ANDROGEN WITHDRAWAL APOPTOSIS PROTEIN, RAT, HOMOLOG OF
Asterisk 602911 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-2 SUBUNIT; CACNG2 STARGAZIN, MOUSE, HOMOLOG OF;; TRANSMEMBRANE AMPA RECEPTOR REGULATORY PROTEIN, GAMMA-2;; TARP-GAMMA-2
Asterisk 602912 EUKARYOTIC TRANSLATION INITIATION FACTOR 6; EIF6 INTEGRIN, BETA-4, BINDING PROTEIN OF; ITGB4BP;; p27, BETA-4 INTEGRIN-BINDING PROTEIN; p27BBP;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3A; EIF3A
Asterisk 602913 POLO-LIKE KINASE 3; PLK3 CYTOKINE-INDUCIBLE KINASE; CNK;; PROLIFERATION-RELATED KINASE; PRK
Asterisk 602914 AQUAPORIN 9; AQP9
Asterisk 602915 TRYPTOPHAN-RICH BASIC PROTEIN; WRB CONGENITAL HEART DISEASE 5 GENE, FORMERLY; CHD5, FORMERLY
Asterisk 602916 UBIQUITIN-CONJUGATING ENZYME E2E 1; UBE2E1 UBIQUITIN-CONJUGATING ENZYME UBCH6; UBCH6;; UBCM3
Asterisk 602917 REGULATOR OF CALCINEURIN 1; RCAN1 DOWN SYNDROME CRITICAL REGION GENE 1; DSCR1;; MYOCYTE-ENRICHED CALCINEURIN-INTERACTING PROTEIN 1; MCIP1;; MODULATORY CALCINEURIN-INTERACTING PROTEIN 1;; CALCIPRESSIN 1; CSP1
Asterisk 602918 PHENYLALANINE-tRNA SYNTHETASE, ALPHA SUBUNIT; FARSA PHENYLALANINE-tRNA SYNTHETASE, CYTOPLASMIC, ALPHA SUBUNIT; FRSA;; PHENYLALANINE-tRNA SYNTHETASE-LIKE, ALPHA SUBUNIT; FARSLA;; PHERSA;; CML33
Asterisk 602919 DOCKING PROTEIN 1; DOK1 DOCKING PROTEIN, 62-KD;; p62DOK;; DOWNSTREAM OF TYROSINE KINASE 1
Asterisk 602920 LIM AND SH3 PROTEIN 1; LASP1 MLN50 LASP1/MLL FUSION GENE, INCLUDED
Asterisk 602921 PERSEPHIN; PSPN
Caret 602922 MOVED TO 300825
Asterisk 602923 RETINOBLASTOMA-BINDING PROTEIN 4; RBBP4 RBAP48
Asterisk 602924 RHO FAMILY GTPase 3; RND3 RAS HOMOLOG GENE FAMILY, MEMBER E; RHOE;; ARHE
Asterisk 602925 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, BETA; PIK3CB PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, 110-KD, BETA;; p110-BETA;; PI3KCB;; PI3K-BETA;; PIK3-BETA
Asterisk 602926 SYNTAXIN-BINDING PROTEIN 1; STXBP1 UNC18, C. ELEGANS, HOMOLOG OF, 1;; MUNC18-1
Asterisk 602927 G PROTEIN-COUPLED RECEPTOR 19; GPR19
Asterisk 602928 TROPOMODULIN 2; TMOD2 TROPOMODULIN, NEURON-SPECIFIC;; N-TROPOMODULIN; NTMOD
Asterisk 602929 VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 5A; VWA5A LOSS OF HETEROZYGOSITY, CHROMOSOME 11, REGION 2, GENE A; LOH11CR2A;; BREAST CANCER SUPPRESSOR CANDIDATE 1; BCSC1
Asterisk 602930 RNA EXONUCLEASE 4, S. CEREVISIAE, HOMOLOG OF; REXO4 REX4, S. CEREVISIAE, HOMOLOG OF; REX4;; PREVENTS MITOTIC CATASTROPHE 2, XENOPUS, HOMOLOG OF; XPMC2H
Asterisk 602931 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 6; SMAD6 MADH6;; SMA- AND MAD-RELATED PROTEIN 6
Asterisk 602932 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; SMAD7 MADH7;; SMA- AND MAD-RELATED PROTEIN 7
Asterisk 602933 THYROID HORMONE RECEPTOR INTERACTOR 6; TRIP6 OPA-INTERACTING PROTEIN 1; OIP1
Asterisk 602934 STROMAL CELL-DERIVED FACTOR 2; SDF2
Asterisk 602935 FATTY ACID AMIDE HYDROLASE; FAAH
Caret 602936 MOVED TO 300149
Asterisk 602937 CBP/p300-INTERACTING TRANSACTIVATOR, WITH GLU/ASP-RICH C-TERMINAL DOMAIN, 2; CITED2 MELANOCYTE-SPECIFIC GENE 1-RELATED GENE 1; MRG1;; MSG1-RELATED GENE 1;; p35SRJ
Asterisk 602938 BILE ACID CoA:AMINO ACID N-ACYLTRANSFERASE; BAAT BACAT; BAT;; GLYCINE N-CHOLOYLTRANSFERASE
Asterisk 602939 FORKHEAD BOX S1; FOXS1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 18; FKHL18;; FORKHEAD-RELATED ACTIVATOR 10; FREAC10
Asterisk 602940 MARCKS-LIKE PROTEIN 1; MARCKSL1 MLP;; MARCKS-RELATED PROTEIN; MRP;; MAC-MARCKS;; F52
Asterisk 602941 BREAST CANCER ANTIESTROGEN RESISTANCE 1; BCAR1 CRK-ASSOCIATED SUBSTRATE; CRKAS;; p130CAS;; CAS
Asterisk 602942 ECOTROPIC VIRAL INTEGRATION SITE 5; EVI5 NEUROBLASTOMA STAGE 4S GENE; NB4S
Asterisk 602943 RAR-RELATED ORPHAN RECEPTOR C; RORC RAR-RELATED ORPHAN RECEPTOR GAMMA; RORG;; RZR-GAMMA; RZRG;; RETINOIC ACID-BINDING RECEPTOR GAMMA
Asterisk 602944 E2F TRANSCRIPTION FACTOR 6; E2F6
Asterisk 602945 TRANSCRIPTIONAL ADAPTOR 3; TADA3 TRANSCRIPTIONAL ADAPTOR 3-LIKE; TADA3L;; ADA3, YEAST, HOMOLOG OF; ADA3
Asterisk 602946 TAF6-LIKE RNA POLYMERASE II; TAF6L PCAF-ASSOCIATED FACTOR 65 ALPHA; PAF65A;; PCAF-ASSOCIATED FACTOR, 65-KD
Asterisk 602947 SUPPRESSOR OF TY 3, S. CEREVISIAE, HOMOLOG OF; SUPT3H SPT3
Asterisk 602948 RAD51, S. CEREVISIAE, HOMOLOG OF, B; RAD51L1 S. CEREVISIAE RAD51-LIKE 1;; RAD51B;; REC2;; RAD51 HOMOLOG 2; R51H2 RAD51L1/HMGIC FUSION GENE, INCLUDED
Asterisk 602949 SIN3-ASSOCIATED POLYPEPTIDE, 18-KD; SAP18
Asterisk 602950 PROTEIN ARGININE METHYLTRANSFERASE 1; PRMT1 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 2; HRMT1L2;; HMT1-LIKE 2;; INTERFERON RECEPTOR 1-BOUND PROTEIN 4; IR1B4
Asterisk 602951 ZINC FINGER PROTEIN 37, MOUSE, HOMOLOG OF; ZFP37
Asterisk 602952 NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 2; NSD2 WOLF-HIRSCHHORN SYNDROME CANDIDATE 1; WHSC1;; MULTIPLE MYELOMA SET DOMAIN; MMSET
Asterisk 602953 HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF 1; HEY1 HAIRY/ENHANCER OF SPLIT-RELATED REPRESSOR PROTEIN 2; HERP2;; HESR1
Asterisk 602954 RAD51, S. CEREVISIAE, HOMOLOG OF, D; RAD51D S. CEREVISIAE RAD51-LIKE 3; RAD51L3;; TRAD
Asterisk 602955 TAF6 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 80-KD; TAF6 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2E; TAF2E;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 70- TO 85-KD;; TAFII80;; TAFII70;; TAFII85
Asterisk 602956 FANCG GENE; FANCG X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9
Asterisk 602957 CHEMOKINE, CC MOTIF, LIGAND 22; CCL22 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 22; SCYA22;; MACROPHAGE-DERIVED CHEMOKINE; MDC
Asterisk 602958 SERUM/GLUCOCORTICOID-REGULATED KINASE 1; SGK1 SGK
Asterisk 602959 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, ALPHA-2; EEF1A2 ELONGATION FACTOR 1, ALPHA-2
Caret 602960 MOVED TO 300506
Asterisk 602961 UBIQUITIN-CONJUGATING ENZYME E2D 1; UBE2D1 UBC4/5, S. CEREVISIAE, HOMOLOG OF;; UBIQUITIN-CONJUGATING ENZYME UBCH5A; UBCH5A;; UBCH5
Asterisk 602962 UBIQUITIN-CONJUGATING ENZYME E2D 2; UBE2D2 UBC4/5, S. CEREVISIAE, HOMOLOG OF;; UBIQUITIN-CONJUGATING ENZYME UBCH5B; UBCH5B;; UBC4
Asterisk 602963 UBIQUITIN-CONJUGATING ENZYME E2D 3; UBE2D3 UBC4/5, S. CEREVISIAE, HOMOLOG OF;; UBIQUITIN-CONJUGATING ENZYME UBCH5C; UBCH5C
Asterisk 602964 TRANSLIN-ASSOCIATED FACTOR X; TSNAX TRAX
Asterisk 602965 FATTY ACID-BINDING PROTEIN 7; FABP7 FATTY ACID-BINDING PROTEIN, BRAIN; FABPB;; BRAIN LIPID-BINDING PROTEIN; BLBP
Percent 602966 OROFACIAL CLEFT 2; OFC2 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 2
Asterisk 602967 ZINC FINGER PROTEIN 217; ZNF217
Asterisk 602968 BREAST CARCINOMA AMPLIFIED SEQUENCE 1; BCAS1 NOVEL AMPLIFIED IN BREAST CANCER 1; NABC1
Asterisk 602969 ESTROGEN-RELATED RECEPTOR, GAMMA; ESRRG ESTROGEN-RELATED RECEPTOR 3; ERR3
Asterisk 602970 KARYOPHERIN ALPHA-4; KPNA4 IMPORTIN ALPHA-3;; QIP1
Asterisk 602971 TUBULIN-SPECIFIC CHAPERONE C; TBCC COFACTOR C IN BETA-TUBULIN FOLDING; CFC
Asterisk 602972 PHOSPHODIESTERASE 8A; PDE8A
Asterisk 602973 PHOSPHODIESTERASE 9A; PDE9A HOMO SAPIENS PHOSPHODIESTERASE 9A2; HSPDE9A2
Asterisk 602974 AQUAPORIN 7; AQP7 AQUAPORIN 7-LIKE; AQP7L;; AQUAPORIN, ADIPOSE;; AQPAP
Caret 602975 MOVED TO 608833
Asterisk 602976 MAX-LIKE PROTEIN X; MLX TRANSCRIPTION FACTOR-LIKE 4; TCFL4
Asterisk 602977 GLYCOPROTEIN 2, ZYMOGEN GRANULE MEMBRANE; GP2 ZYMOGEN GRANULE MEMBRANE GLYCOPROTEIN 2
Asterisk 602978 POLYHOMEOTIC-LIKE 1; PHC1 EARLY DEVELOPMENT REGULATOR 1; EDR1;; POLYHOMEOTIC, DROSOPHILA, HOMOLOG OF, 1;; HUMAN POLYHOMEOTIC HOMOLOG 1; HPH1;; RETINOIC ACID-ACTIVATED EARLY-28, MOUSE, HOMOLOG OF; RAE28
Asterisk 602979 POLYHOMEOTIC-LIKE 2; PHC2 EARLY DEVELOPMENT REGULATOR 2; EDR2;; POLYHOMEOTIC, DROSOPHILA, HOMOLOG OF, 2;; HUMAN POLYHOMEOTIC HOMOLOG 2; HPH2
Asterisk 602980 PROTEIN KINASE, SERINE/ARGININE-SPECIFIC, 2; SRPK2 PROTEIN KINASE, ARGININE/SERINE-RICH SPLICING FACTOR, 2;; SFRS PROTEIN KINASE 2
Asterisk 602981 AE-BINDING PROTEIN 1; AEBP1 AORTIC CARBOXYPEPTIDASE-LIKE PROTEIN; ACLP
Asterisk 602982 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 1; KCNN1 SK1
Asterisk 602983 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 3; KCNN3 SK3;; SKCA3
Asterisk 602984 MEDIATOR COMPLEX SUBUNIT 6; MED6 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 6, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II TRANSCRIPTIONAL REGULATION MEDIATOR
Asterisk 602985 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 2; NDUFS2 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 49-KD SUBUNIT
Asterisk 602986 DEVELOPMENTALLY REGULATED GTP-BINDING PROTEIN 2; DRG2
Asterisk 602987 PHOSPHODIESTERASE 1C; PDE1C HCAM3
Asterisk 602988 PROTOCADHERIN 7; PCDH7 BRAIN-HEART PROTOCADHERIN; BHPCDH
Asterisk 602989 CDC-LIKE KINASE 2; CLK2
Asterisk 602990 CDC-LIKE KINASE 3; CLK3
Asterisk 602991 NOGGIN, MOUSE, HOMOLOG OF; NOG
Asterisk 602992 LEUKOCYTE-ASSOCIATED IMMUNOGLOBULIN-LIKE RECEPTOR 1; LAIR1
Asterisk 602993 LEUKOCYTE-ASSOCIATED IMMUNOGLOBULIN-LIKE RECEPTOR 2; LAIR2 CD306
NULL 602994 LEUKOREGULIN
Asterisk 602995 UBIQUITIN-CONJUGATING ENZYME E2 VARIANT 1; UBE2V1 UEV1; UEV1A;; CROC1
Asterisk 602996 IMMEDIATE-EARLY RESPONSE 3; IER3 DIFFERENTIATION-DEPENDENT GENE 2; DIF2;; GLY96, MOUSE, HOMOLOG OF;; IMMEDIATE-EARLY RESPONSE GENE; IEX1;; PACAP-RESPONSIVE GENE 1; PRG1
Asterisk 602997 CUBILIN; CUBN INTRINSIC FACTOR-COBALAMIN RECEPTOR; IFCR
Asterisk 602998 SYNUCLEIN, GAMMA; SNCG BREAST CANCER-SPECIFIC GENE 1; BCSG1;; PERSYN
Asterisk 602999 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3C; PPP1R3C PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 5; PPP1R5
Asterisk 603000 IMMATURE COLON CARCINOMA TRANSCRIPT 1; ICT1 DS1
Asterisk 603001 UBIQUITIN-CONJUGATING ENZYME E2 VARIANT 2; UBE2V2 UEV2;; 1-ALPHA,25-DIHYDROXYVITAMIN D3-INDUCIBLE TRANSCRIPT 1; DDVIT1;; ENTEROCYTE DIFFERENTIATION-PROMOTING FACTOR 1; EDPF1;; METHYL METHANESULFONATE SENSITIVE 2, S. CEREVISIAE, HOMOLOG OF; MMS2
Asterisk 603002 TRANSPORTIN 2; TNPO2 TRN2;; KARYOPHERIN BETA-2B; KPNB2B
Percent 603003 BILE DUCT CYSTS CHOLEDOCHAL CYSTS;; CHOLEDOCHOCELE
Asterisk 603004 GLIOBLASTOMA AMPLIFIED SEQUENCE; GBAS 4-NITROPHENYLPHOSPHATASE DOMAIN AND NONNEURONAL SNAP25-LIKE 2; NIPSNAP2;; NIPSNAP, C. ELEGANS, HOMOLOG OF, 2
Asterisk 603005 3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 2; PAPSS2 PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;; PAPS SYNTHASE 2;; PAPS SYNTHETASE 2;; ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;; ATP SULFURYLASE/APS KINASE 2; SK2
Asterisk 603006 CADHERIN 4; CDH4 CADHERIN, RETINAL;; R-CADHERIN
Asterisk 603007 CADHERIN 6; CDH6 CADHERIN, FETAL KIDNEY;; K-CADHERIN
Asterisk 603008 CADHERIN 8; CDH8
Asterisk 603009 DYSFERLIN; DYSF
Percent 603010 DEAFNESS, AUTOSOMAL RECESSIVE 17; DFNB17
Asterisk 603011 SMALL EDRK-RICH FACTOR 1A; SERF1A SMALL EDRK-RICH FACTOR 1; SERF1;; SPINAL MUSCULAR ATROPHY-RELATED GENE H4F5; H4F5;; SMA MODIFIER 1; SMAM1
Asterisk 603012 HEAT-SHOCK 70-KD PROTEIN 1B; HSPA1B HEAT-SHOCK PROTEIN, 70-KD, 1B;; HSP70-1B;; HEAT-SHOCK PROTEIN, 70-KD, 2;; HSP70-2
Percent 603013 SCHIZOPHRENIA 6; SCZD6 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 8p-RELATED
Asterisk 603014 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 7; MAP2K7 PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 7; PRKMK7;; MKK7; MAPKK7;; JNK-ACTIVATING KINASE 2; JNKK2
Asterisk 603015 TRANSFORMATION/TRANSCRIPTION DOMAIN-ASSOCIATED PROTEIN; TRRAP PAF400
Asterisk 603016 CADHERIN 19; CDH19 CADHERIN 7, FORMERLY; CDH7, FORMERLY
Asterisk 603017 CADHERIN 17; CDH17 CADHERIN, LIVER-INTESTINE;; LI-CADHERIN;; HUMAN PEPTIDE TRANSPORTER 1; HPT1;; CADHERIN 16, FORMERLY; CDH16, FORMERLY
Asterisk 603018 BETA-3-GALACTOSYLTRANSFERASE 2; B3GALT2 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 2;; BETA-3-GALT2
Asterisk 603019 CADHERIN 18; CDH18 CADHERIN 14, FORMERLY; CDH14, FORMERLY
Asterisk 603020 ATPase FAMILY GENE 3-LIKE 1; AFG3L1 AFG3, YEAST, HOMOLOG OF
Asterisk 603021 MITOCHONDRIAL RIBOSOMAL PROTEIN S12; MRPS12 RIBOSOMAL PROTEIN, MITOCHONDRIAL, S12; RPMS12;; RPSM12
Asterisk 603022 E4F TRANSCRIPTION FACTOR 1; E4F1 TRANSCRIPTION FACTOR E4F; E4F;; p120 E4F
Asterisk 603023 IKAROS FAMILY ZINC FINGER 1; IKZF1 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 1; ZNFN1A1;; IKAROS; IK1;; LYF1 IKAROS/BCL6 FUSION GENE, INCLUDED
Asterisk 603024 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 1A; ARID1A ARID-CONTAINING PROTEIN 1A;; SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY F, MEMBER 1; SMARCF1;; BRG1-ASSOCIATED FACTOR, 250-KD, A; BAF250A;; CHROMOSOME 1 OPEN READING FRAME 4; C1ORF4;; B120 GENE; B120;; p270
Asterisk 603025 PHOSPHATIDYLINOSITOL-BINDING CLATHRIN ASSEMBLY PROTEIN; PICALM CLATHRIN ASSEMBLY LYMPHOID-MYELOID LEUKEMIA GENE; CALM;; CLTH;; LAP, DROSOPHILA, HOMOLOG OF; LAP PICALM/AF10 FUSION GENE, INCLUDED
Asterisk 603026 PLEOMORPHIC ADENOMA GENE 1; PLAG1 PLAG1/CTNNB1 FUSION GENE, INCLUDED;; PLAG1/TCEA1 FUSION GENE, INCLUDED;; PLAG1/CHCHD7 FUSION GENE, INCLUDED
Asterisk 603027 FRUCTOSE-1,6-BISPHOSPHATASE 2; FBP2 D-FRUCTOSE-1,6-BISPHOSPHATE 1-PHOSPHOHYDROLASE;; FRUCTOSE-1,6-BISPHOSPHATASE, MUSCLE
Asterisk 603028 TOLL-LIKE RECEPTOR 2; TLR2 TOLL/INTERLEUKIN 1 RECEPTOR-LIKE 4; TIL4
Asterisk 603029 TOLL-LIKE RECEPTOR 3; TLR3
Asterisk 603030 TOLL-LIKE RECEPTOR 4; TLR4 TOLL, DROSOPHILA, HOMOLOG OF; TOLL
Asterisk 603031 TOLL-LIKE RECEPTOR 5; TLR5 TOLL/INTERLEUKIN 1 RECEPTOR-LIKE 5; TIL3
Asterisk 603032 STANNIN; SNN
Asterisk 603033 COLLAGENIC TAIL OF ENDPLATE ACETYLCHOLINESTERASE; COLQ ACETYLCHOLINESTERASE-ASSOCIATED COLLAGEN
Number Sign 603034 MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD;; ENGEL CONGENITAL MYASTHENIC SYNDROME;; MYASTHENIC SYNDROME, CONGENITAL, ENGEL TYPE;; CONGENITAL MYASTHENIC SYNDROME TYPE Ic, FORMERLY; CMS1C, FORMERLY;; CMS Ic, FORMERLY
Asterisk 603035 INTERLEUKIN 16; IL16 LYMPHOCYTE CHEMOATTRACTANT FACTOR; LCF
Caret 603036 MOVED TO 601877
Asterisk 603037 LEFT-RIGHT DETERMINATION FACTOR 1; LEFTY1 LEFT-RIGHT DETERMINATION, FACTOR B; LEFTY B;; LEFTY1, MOUSE, HOMOLOG OF;; LEFTB
Asterisk 603038 SPERM-ASSOCIATED ANTIGEN 4; SPAG4
Asterisk 603039 MAX-BINDING PROTEIN; MNT ROX
Percent 603040 TUMOR SUPPRESSOR GENE ON CHROMOSOME 11 TSG11;; NONSMALL CELL LUNG CANCER SUPPRESSOR
Number Sign 603041 MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED;; MNGIE, TYMP-RELATED;; MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME;; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION;; POLIP SYNDROME
Asterisk 603042 SMALL UBIQUITIN-LIKE MODIFIER 2; SUMO2 SMT3, YEAST, HOMOLOG 2; SMT3H2;; SMT3B;; SENTRIN 2
Asterisk 603043 NEUTRAL SPHINGOMYELINASE ACTIVATION-ASSOCIATED FACTOR; NSMAF N-SMase ACTIVATION-ASSOCIATED FACTOR;; FACTOR ASSOCIATED WITH N-SMase ACTIVATION; FAN
Asterisk 603044 PLEOMORPHIC ADENOMA GENE-LIKE 1; PLAGL1 ZAC TUMOR SUPPRESSOR GENE; ZAC;; ZAC1;; LOST ON TRANSFORMATION 1; LOT1
Caret 603045 MOVED TO 603499
Asterisk 603046 RING FINGER PROTEIN 139; RNF139 TRANSLOCATION IN RENAL CARCINOMA ON CHROMOSOME 8; TRC8;; HEREDITARY RENAL CANCER ASSOCIATED 1; HRCA1
Percent 603047 ASTIGMATISM
Asterisk 603048 GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR ATTACHMENT PROTEIN 1; GPAA1 GAA1
Asterisk 603049 THIOREDOXIN-LIKE 1; TXNL1 THIOREDOXIN-LIKE; TXNL;; TXL
Asterisk 603050 ABL INTERACTOR 1; ABI1 SPECTRIN SH3 DOMAIN-BINDING PROTEIN 1; SSH3BP1;; E3B1 ABI1/MLL FUSION GENE, INCLUDED
Asterisk 603051 ALKYLGLYCERONE-PHOSPHATE SYNTHASE; AGPS ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE; ADHAPS;; ALKYL-DHAP SYNTHASE
Asterisk 603052 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 4; CPSF4 CLEAVAGE-POLYADENYLATION SPECIFICITY FACTOR, 30-KD; CPSF30;; NS1 EFFECTOR DOMAIN-BINDING PROTEIN 1; NEB1
Asterisk 603053 HISTONE ACETYLTRANSFERASE 1; HAT1
Asterisk 603054 GREMLIN 1 HOMOLOG, CYSTINE KNOT SUPERFAMILY; GREM1 GREMLIN;; CYSTINE KNOT SUPERFAMILY 1, BMP ANTAGONIST 1; CKTSF1B1
Asterisk 603055 SKI-INTERACTING PROTEIN; SKIIP SKIP;; BX42, DROSOPHILA, HOMOLOG OF;; SNW1
Asterisk 603056 ORIGIN RECOGNITION COMPLEX, SUBUNIT 4, S. CEREVISIAE, HOMOLOG OF; ORC4 ORC4-LIKE; ORC4L
Asterisk 603057 DACHSOUS, DROSOPHILA, HOMOLOG OF, 1; DCHS1 PROTOCADHERIN 16; PCDH16;; CADHERIN, FIBROBLAST, 1; FIB1;; CADHERIN 19, FORMERLY; CDH19, FORMERLY
Asterisk 603058 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 4; PCDHGB4 CADHERIN, FIBROBLAST, 2; FIB2;; CADHERIN 20, FORMERLY; CDH20, FORMERLY
Asterisk 603059 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 12; PCDHGA12 PCDH-GAMMA-A12;; CADHERIN, FIBROBLAST, 3; FIB3;; KIAA0588;; CADHERIN 21, FORMERLY; CDH21, FORMERLY
Asterisk 603060 KINESIN FAMILY MEMBER 1C; KIF1C LTXS1, MOUSE, HOMOLOG OF; LTXS1;; KIAA0706
Asterisk 603061 ENDOSULFINE, ALPHA; ENSA
Asterisk 603062 TRANS-GOLGI NETWORK PROTEIN 2; TGOLN2 TRANS-GOLGI NETWORK PROTEIN, 46-KD; TGN46;; TRANS-GOLGI NETWORK PROTEIN, 38-KD, RAT, HOMOLOG OF; TGN38
Asterisk 603063 3-HYDROXYBUTYRATE DEHYDROGENASE 1; BDH1 3-HYDROXYBUTYRATE DEHYDROGENASE; BDH
Asterisk 603064 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B11; UGT2B11 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B11;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B11
Asterisk 603065 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP I, MEMBER 2; NR1I2 PREGNANE X RECEPTOR; PXR;; STEROID AND XENOBIOTIC RECEPTOR; SXR;; PAR;; PAR1 PAR2, INCLUDED
Asterisk 603066 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 3; PLOD3 LYSINE HYDROXYLASE 3; LH3;; LYSYL HYDROXYLASE 3
Caret 603067 MOVED TO 602413
Asterisk 603068 DUAL-SPECIFICITY PHOSPHATASE 2; DUSP2 PHOSPHATASE OF ACTIVATED CELLS 1; PAC1
Asterisk 603069 DUAL-SPECIFICITY PHOSPHATASE 5; DUSP5 VH1-LIKE PHOSPHATASE 3; HVH3
Asterisk 603070 RAD51-ASSOCIATED PROTEIN 1; RAD51AP1 PROTEIN INTERACTING WITH RAD51; PIR51
Asterisk 603071 G PROTEIN-COUPLED RECEPTOR 17; GPR17
Asterisk 603072 AURORA KINASE A; AURKA SERINE/THREONINE PROTEIN KINASE 15; STK15;; STK6, MOUSE, HOMOLOG OF; STK6;; AURORA-RELATED KINASE 1; ARK1;; AURORA/IPL1-LIKE KINASE; AIK;; AURORA2;; BTAK
Asterisk 603073 ZIC FAMILY, MEMBER 2; ZIC2 ZINC FINGER PROTEIN OF CEREBELLUM 2
Asterisk 603074 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, GAMMA SUBUNIT; PAFAH1B3
Number Sign 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 MACULOPATHY, AGE-RELATED, 1
Asterisk 603076 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 1; ABCG1 ATP-BINDING CASSETTE TRANSPORTER 8; ABC8;; ABC TRANSPORTER 8;; WHITE, DROSOPHILA, HOMOLOG OF
Caret 603077 MOVED TO 300157
Asterisk 603078 CHECKPOINT, S. POMBE, HOMOLOG OF, 1; CHEK1 CELL CYCLE CHECKPOINT KINASE; CHK1
Asterisk 603079 CHROMOBOX HOMOLOG 4, DROSOPHILA POLYCOMB CLASS; CBX4 POLYCOMB, DROSOPHILA, HOMOLOG OF, 2; PC2
Asterisk 603080 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, BETAINE/GABA), MEMBER 12; SLC6A12 BETAINE/GABA TRANSPORTER 1; BGT1;; GABA TRANSPORTER 2, MOUSE, HOMOLOG OF; GAT2
Asterisk 603081 ADP-RIBOSYLARGININE HYDROLASE; ADPRH
Caret 603082 MOVED TO 188855
Asterisk 603083 HETEROGENEOUS NUCLEAR RIBOPROTEIN L; HNRNPL HNRPL
Asterisk 603084 ASPARTYL-tRNA SYNTHETASE; DARS ASPRS
Asterisk 603085 SOLUTE CARRIER FAMILY 31 (COPPER TRANSPORTER), MEMBER 1; SLC31A1 COPPER TRANSPORTER 1; COPT1; CTR1
Asterisk 603086 ADP-RIBOSYLTRANSFERASE 3; ART3
Caret 603087 MOVED TO 110600
Asterisk 603088 SOLUTE CARRIER FAMILY 31 (COPPER TRANSPORTER), MEMBER 2; SLC31A2 COPPER TRANSPORTER 2; COPT2; CTR2
Asterisk 603089 BRCA1-ASSOCIATED PROTEIN 1; BAP1
Asterisk 603090 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L3; UCHL3
Asterisk 603091 UBIQUITIN-SPECIFIC PROTEASE 12; USP12 UBIQUITIN-HYDROLYZING ENZYME 1; UBH1
Asterisk 603092 DUAL-SPECIFICITY PHOSPHATASE 11; DUSP11 PHOSPHATASE THAT INTERACTS WITH RNA/RNP COMPLEX 1; PIR1;; RNA/RNP COMPLEX-INTERACTING PHOSPHATASE
Asterisk 603093 BETA-3-GALACTOSYLTRANSFERASE 1; B3GALT1 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 1;; BETA-3-GALT1
Asterisk 603094 BETA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE 1; B3GALNT1 BETA-3-GalNAc-T1;; UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 3; B3GALT3;; BETA-3-GALACTOSYLTRANSFERASE 3;; BETA-3-GALT3;; GLOBOSIDE SYNTHASE;; GLOB;; GB4 SYNTHASE;; P ANTIGEN SYNTHASE
Asterisk 603095 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 4; B3GALT4 BETA-3-GALACTOSYLTRANSFERASE 4;; BETA-3-GALT4
Caret 603096 MOVED TO 262300
Asterisk 603097 ATPase, H+ TRANSPORTING, LYSOSOMAL, 42-KD, V1 SUBUNIT C, ISOFORM 1; ATP6V1C1 ATPase, H+ TRANSPORTING, LYSOSOMAL, SUBUNIT C; ATP6C;; VACUOLAR PROTON PUMP, 42-KD SUBUNIT;; V-ATPase, SUBUNIT C;; ATPase, H+ TRANSPORTING, LYSOSOMAL, SUBUNIT D, FORMERLY; ATP6D, FORMERLY
Percent 603098 DEAFNESS, AUTOSOMAL RECESSIVE 13; DFNB13
Asterisk 603099 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 1; AGPAT1 LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE-ALPHA;; LPAAT-ALPHA
Asterisk 603100 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2; AGPAT2 LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE-BETA;; LPAAT-BETA
Asterisk 603101 CARBOXYPEPTIDASE B2, PLASMA; CPB2 CARBOXYPEPTIDASE U; CPU;; THROMBIN-ACTIVATABLE FIBRINOLYSIS INHIBITOR; TAFI
Asterisk 603102 CARBOXYPEPTIDASE D; CPD GLYCOPROTEIN, 180-KD; GP180
Asterisk 603103 CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1 CARBOXYPEPTIDASE N, CATALYTIC SUBUNIT;; SERUM CARBOXYPEPTIDASE N; SCPN;; CARBOXYPEPTIDASE N, SERUM; CPN;; CARBOXYPEPTIDASE B, SERUM;; KININASE I;; ANAPHYLATOXIN INACTIVATOR
Asterisk 603104 CARBOXYPEPTIDASE N, POLYPEPTIDE 2, 83-KD; CPN2 CARBOXYPEPTIDASE N, REGULATORY SUBUNIT
Asterisk 603105 CARBOXYPEPTIDASE Z; CPZ
Asterisk 603106 NEURONATIN; NNAT
Asterisk 603107 TRANSCRIPTION FACTOR 20; TCF20 STROMELYSIN 1 PDGF-RESPONSIVE ELEMENT-BINDING PROTEIN; SPBP;; SPRE-BINDING PROTEIN; AR1
Asterisk 603108 MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 1; MAPRE1 END-BINDING PROTEIN 1; EB1;; ADENOMATOUS POLYPOSIS COLI-BINDING PROTEIN EB1
Asterisk 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3 MADH3;; SMA- AND MAD-RELATED PROTEIN 3
Asterisk 603110 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 5; SMAD5 MADH5;; SMA- AND MAD-RELATED PROTEIN 5
Asterisk 603111 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY E, MEMBER 1; SMARCE1 BRG1-ASSOCIATED FACTOR, 57-KD; BAF57
Asterisk 603112 S100 CALCIUM-BINDING PROTEIN A12; S100A12 CALCIUM-BINDING PROTEIN IN AMNIOTIC FLUID; CAAF1;; CALGRANULIN-RELATED PROTEIN; CGRP;; CALGRANULIN C;; p6;; EXTRACELLULAR NEWLY IDENTIFIED RAGE-BINDING PROTEIN; ENRAGE
Asterisk 603113 PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, BETA; PPP2R1B PP2AA-BETA
Asterisk 603114 S100 CALCIUM-BINDING PROTEIN A11; S100A11 CALGIZZARIN;; S100C
Asterisk 603115 DEAH BOX POLYPEPTIDE 9; DHX9 DEAD/H BOX 9; DDX9;; RNA HELICASE A;; NUCLEAR DNA HELICASE II; NDHII
Percent 603116 CDAGS SYNDROME CRANIOSYNOSTOSIS, ANAL ANOMALIES, AND POROKERATOSIS;; CAP SYNDROME
NULL 603117 SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY, AND XY SEX REVERSAL
Asterisk 603118 CADHERIN 16; CDH16 CADHERIN, KIDNEY;; KSP-CADHERIN
NULL 603119 APRAXIA OF EYELID OPENING
Asterisk 603120 QUIESCIN Q6 SULFHYDRYL OXIDASE 1; QSOX1 QUIESCIN Q6; QSCN6;; Q6
Caret 603121 MOVED TO 300768
Asterisk 603122 DEDICATOR OF CYTOKINESIS 2; DOCK2
Asterisk 603123 DEDICATOR OF CYTOKINESIS 3; DOCK3
Asterisk 603124 UBIQUITIN-CONJUGATING ENZYME E2G 2; UBE2G2 UBC7, S. CEREVISIAE, HOMOLOG OF
Asterisk 603125 TYROSYLPROTEIN SULFOTRANSFERASE 1; TPST1
Asterisk 603126 TYROSYLPROTEIN SULFOTRANSFERASE 2; TPST2
Asterisk 603127 GROWTH ARREST-SPECIFIC 7; GAS7
Asterisk 603128 SINGLE-MINDED, DROSOPHILA, HOMOLOG OF, 1; SIM1
Asterisk 603129 LIM DOMAIN ONLY 4; LMO4
Asterisk 603130 ATTRACTIN; ATRN MAHOGANY, MOUSE, HOMOLOG OF; MGCA
Asterisk 603131 PEPTIDASE, MITOCHONDRIAL PROCESSING, BETA; PMPCB MITOCHONDRIAL PROCESSING PEPTIDASE-BETA; MPPB
Asterisk 603132 ZINC FINGER PROTEIN 189; ZNF189
NULL 603133 DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL RETARDATION
Asterisk 603134 CULLIN 1; CUL1
Asterisk 603135 CULLIN 2; CUL2
Asterisk 603136 CULLIN 3; CUL3
Asterisk 603137 CULLIN 4A; CUL4A
Caret 603138 MOVED TO 300304
Asterisk 603139 RAD17, S. POMBE, HOMOLOG OF; RAD17 RAD24, S. CEREVISIAE, HOMOLOG OF;; RAD24, MOUSE, HOMOLOG OF
Asterisk 603140 PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE, TYPE II, ALPHA; PIP4K2A PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE II, ALPHA; PIP5K2A;; PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE, ALPHA; PI5P4KA
Asterisk 603141 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING PROTEIN-BINDING PROTEIN 1; PPFIBP1 PTPRF-INTERACTING PROTEIN-BINDING PROTEIN 1;; LIPRIN-BETA-1
Asterisk 603142 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING PROTEIN-BINDING PROTEIN 2; PPFIBP2 PTPRF-INTERACTING PROTEIN-BINDING PROTEIN 2;; LIPRIN-BETA-2
Asterisk 603143 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING PROTEIN ALPHA-2; PPFIA2 PTPRF-INTERACTING PROTEIN ALPHA-2;; LIPRIN-ALPHA-2
Asterisk 603144 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING PROTEIN ALPHA 3; PPFIA3 PTPRF-INTERACTING PROTEIN ALPHA-3;; LIPRIN-ALPHA-3
Asterisk 603145 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING PROTEIN ALPHA 4; PPFIA4 PTPRF-INTERACTING PROTEIN ALPHA-4;; LIPRIN-ALPHA-4
Asterisk 603146 PROTEASOME 26S SUBUNIT, NON-ATPase, 9; PSMD9 BRIDGE 1, RAT, HOMOLOG OF
Number Sign 603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C CDG Ic; CDGIc;; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE, FORMERLY;; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V, FORMERLY; CDGS5, FORMERLY
Asterisk 603148 ACTIVATING TRANSCRIPTION FACTOR 3; ATF3
Asterisk 603149 INTERLEUKIN 17A; IL17A IL17;; CYTOTOXIC T-LYMPHOCYTE-ASSOCIATED SERINE ESTERASE 8; CTLA8
Asterisk 603150 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, DELTA SUBUNIT; ATP5D MITOCHONDRIAL ATP SYNTHASE, DELTA SUBUNIT
Asterisk 603151 SEPTIN 7; SEPT7 CELL DIVISION CYCLE 10; CDC10
Asterisk 603152 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT F6; ATP5J MITOCHONDRIAL ATP SYNTHASE, SUBUNIT F6;; MITOCHONDRIAL ATP SYNTHASE, COUPLING FACTOR 6;; ATP5
Asterisk 603153 RAD1, S. POMBE, HOMOLOG OF; RAD1
Asterisk 603154 PININ; PNN DRS
Asterisk 603155 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 14; PTPN14 PHOSPHATASE WITH EZRIN DOMAIN; PEZ
Asterisk 603156 BIPHENYL HYDROLASE-LIKE; BPHL VALACYCLOVIRASE;; MUCIN-ASSOCIATED ANTIGEN; MCNAA;; BREAST EPITHELIAL MUCIN-ASSOCIATED ANTIGEN
Asterisk 603157 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 2; PIK3R2 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT, 85-KD, BETA;; p85-BETA PIK3R2/UPS8 FUSION GENE, INCLUDED
Asterisk 603158 UBIQUITIN-SPECIFIC PROTEASE 8; USP8 DEUBIQUITINATING ENZYME HUMORF8; HUMORF8 USP8/PIK3R2 FUSION GENE, INCLUDED
Asterisk 603159 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 3; LRP3
Asterisk 603160 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 6; ENTPD6 CD39-LIKE 2; CD39L2
Asterisk 603161 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 3; ENTPD3 CD39-LIKE 3; CD39L3
Asterisk 603162 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 5; ENTPD5 CD39-LIKE 4; CD39L4
Asterisk 603163 STIMULATOR OF CHONDROGENESIS 1; SCRG1 SCRAPIE-RESPONSIVE GENE 1
Asterisk 603164 PEROXISOME BIOGENESIS FACTOR 3; PEX3 PEROXIN 3
Percent 603165 DERMATITIS, ATOPIC ATOD;; ECZEMA, ATOPIC DERMATITIS, ATOPIC, 1, INCLUDED; ATOD1, INCLUDED
Asterisk 603166 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 2; MAP4K2 GERMINAL CENTER KINASE; GCK;; RAB8-INTERACTING PROTEIN, FORMERLY; RAB8IP, FORMERLY
Asterisk 603167 BCL2-ASSOCIATED AGONIST OF CELL DEATH; BAD BCL2 ANTAGONIST;; BCL2-BINDING PROTEIN; BCL2L8;; BCL2-BINDING COMPONENT 6
Asterisk 603168 UNC51-LIKE KINASE 1; ULK1 UNC51, C. ELEGANS, HOMOLOG OF;; UNC51.1
Asterisk 603169 CATHEPSIN Z; CTSZ
Asterisk 603170 TEA DOMAIN FAMILY MEMBER 3; TEAD3 TRANSCRIPTIONAL ENHANCER FACTOR 5; TEF5;; TEA DOMAIN FAMILY MEMBER 5, FORMERLY; TEAD5, FORMERLY
Asterisk 603171 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 8; NEDD8
Asterisk 603172 UBIQUITIN-ACTIVATING ENZYME E1C; UBE1C UBIQUITIN-ACTIVATING ENZYME 3, S. CEREVISIAE, HOMOLOG OF; UBA3
Asterisk 603173 UBIQUITIN-CONJUGATING ENZYME E2M; UBE2M UBIQUITIN-CONJUGATING ENZYME 12, S. CEREVISIAE, HOMOLOG OF; UBC12
NULL 603174 HOMOCYSTEINEMIA HYPERHOMOCYSTEINEMIA
Percent 603175 SCHIZOPHRENIA 5; SCZD5 SCHIZOPHRENIA 5 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6q-RELATED
Percent 603176 SCHIZOPHRENIA 7; SCZD7 SCHIZOPHRENIA 7 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED
Asterisk 603177 VESICLE-ASSOCIATED MEMBRANE PROTEIN 8; VAMP8 ENDOBREVIN;; SYNAPTOBREVIN-LIKE, ENDOSOME-ASSOCIATED
Asterisk 603178 ALDEHYDE DEHYDROGENASE 6 FAMILY, MEMBER A1; ALDH6A1 METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE; MMSDH
Asterisk 603179 CARBONIC ANHYDRASE IX; CA9 CA IX;; MEMBRANE ANTIGEN MN; MN
Asterisk 603180 EXPORTIN, tRNA; XPOT EXPORTIN-T
Asterisk 603181 INTERLEUKIN ENHANCER-BINDING FACTOR 2; ILF2 NUCLEAR FACTOR OF ACTIVATED T CELLS, 45-KD; NF45
Asterisk 603182 INTERLEUKIN ENHANCER-BINDING FACTOR 3; ILF3 NUCLEAR FACTOR OF ACTIVATED T CELLS, 90-KD; NF90;; DOUBLE-STRANDED RNA-BINDING PROTEIN, 76-KD; DRBP76;; M-PHASE PHOSPHOPROTEIN 4; MPP4; MPHOSPH4;; NUCLEAR FACTOR ASSOCIATED WITH DOUBLE-STRANDED RNA; NFAR
Asterisk 603183 RETICULON 2; RTN2 NEUROENDOCRINE-SPECIFIC PROTEIN-LIKE 1; NSPL1
Asterisk 603184 CYCLIN-DEPENDENT KINASE 8; CDK8 K35
Asterisk 603185 NUCLEAR AUTOANTIGENIC SPERM PROTEIN; NASP N1/N2, XENOPUS, HOMOLOG OF
Asterisk 603186 DEATH-ASSOCIATED PROTEIN 6; DAXX BING2
Asterisk 603187 CENTRIN 1; CETN1 CEN1
Percent 603188 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8; BMIQ8 OBESITY, SUSCEPTIBILITY TO
Asterisk 603189 SYNTAXIN 5; STX5 STX5A;; SED5
Asterisk 603190 PROTEIN ARGININE N-METHYLTRANSFERASE 3; PRMT3 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 3; HRMT1L3;; HMT1-LIKE 3
Asterisk 603191 CHROMOSOME 21 OPEN READING FRAME 2; C21ORF2
Asterisk 603192 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT C, ISOFORM 1; ATP5G1 MITOCHONDRIAL ATP SYNTHASE, SUBUNIT C, ISOFORM 1;; MITOCHONDRIAL ATP SYNTHASE, SUBUNIT 9, ISOFORM 1
Asterisk 603193 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT C, ISOFORM 2; ATP5G2 MITOCHONDRIAL ATP SYNTHASE, SUBUNIT C, ISOFORM 2;; MITOCHONDRIAL ATP SYNTHASE, SUBUNIT 9, ISOFORM 2
Number Sign 603194 MECKEL SYNDROME, TYPE 2; MKS2 MECKEL-GRUBER SYNDROME, TYPE 2
Asterisk 603195 G PROTEIN-COUPLED RECEPTOR 32; GPR32
Asterisk 603196 COCHLIN; COCH COCH5B2;; COAGULATION FACTOR C HOMOLOGY
Asterisk 603197 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6; PNPLA6 NEUROPATHY TARGET ESTERASE; NTE;; NEUROTOXIC ESTERASE
Asterisk 603198 CAVEOLAE-ASSOCIATED PROTEIN 1; CAVIN1 CAVIN;; RNA POLYMERASE I AND TRANSCRIPT RELEASE FACTOR; PTRF
Asterisk 603199 INAD-LIKE; INADL INAD, DROSOPHILA, HOMOLOG OF;; PALS1-ASSOCIATED TIGHT JUNCTION PROTEIN; PATJ
Asterisk 603200 REGULATORY FACTOR X, ANKYRIN REPEAT-CONTAINING; RFXANK
Asterisk 603201 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11; ABCB11 BILE SALT EXPORT PUMP; BSEP;; SISTER OF P-GLYCOPROTEIN; SPGP
Asterisk 603202 LACTASE; LCT LAC;; LACTASE-PHLORIZIN HYDROLASE; LPH
Asterisk 603203 CYCLIN G2; CCNG2
Percent 603204 EPILEPSY, NOCTURNAL FRONTAL LOBE, 2; ENFL2
Asterisk 603205 MORC FAMILY CW-TYPE ZINC FINGER PROTEIN 1; MORC1 MICRORCHIDIA, MOUSE, HOMOLOG OF; MORC
Percent 603206 SCHIZOPHRENIA 8; SCZD8 SCHIZOPHRENIA 8 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 18-RELATED
Asterisk 603207 VTI1, S. CEREVISIAE, HOMOLOG OF, B; VTI1B VTI1;; VTI1-LIKE; VTI1L
Asterisk 603208 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 13; KCNJ13 INWARDLY RECTIFYING POTASSIUM CHANNEL Kir7.1
NULL 603209 CYTIDINE MONOPHOSPHO-N-ACETYLNEURAMINIC ACID HYDROXYLASE, PSEUDOGENE; CMAHP CMAH;; CMP-NeuAc HYDROXYLASE;; CMP-Neu5Ac HYDROXYLASE;; CMP-SIALIC ACID HYDROXYLASE; CSAH
Asterisk 603210 JERKY, MOUSE, HOMOLOG OF; JRK JH8
Asterisk 603211 JERKY, MOUSE, HOMOLOG-LIKE; JRKL HHMJG
Asterisk 603212 BEADED FILAMENT STRUCTURAL PROTEIN 2; BFSP2 BEADED FILAMENT STRUCTURAL PROTEIN, 49-KD;; CYTOSKELETAL PROTEIN, 49-KD; CP49;; CYTOSKELETAL PROTEIN, 47-KD; CP47;; PHAKININ;; PHAKOSIN
Asterisk 603213 KINESIN FAMILY MEMBER 22; KIF22 KINESIN-LIKE 4; KNSL4;; KINESIN-LIKE DNA-BINDING PROTEIN; KID;; ORIGIN OF PLASMID DNA REPLICATION-BINDING PROTEIN; OBP;; ORIP-BINDING PROTEIN
Asterisk 603214 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 4; ABCD4 PEROXISOMAL MEMBRANE PROTEIN 1-LIKE; PXMP1L;; P70R;; PMP69
Asterisk 603215 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, ALPHA; NAPA SOLUBLE NSF-ATTACHMENT PROTEIN, ALPHA; SNAPA;; SNAP, ALPHA
Asterisk 603216 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, GAMMA; NAPG SOLUBLE NSF-ATTACHMENT PROTEIN, GAMMA;; SNAP, GAMMA
Asterisk 603217 SYNTAXIN 7; STX7
Number Sign 603218 HUNTINGTON DISEASE-LIKE 1; HDL1 HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1; HLN1;; HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT;; PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES
Asterisk 603219 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 2; KCNK2 TWIK-RELATED K+ CHANNEL; TREK;; TREK1
Asterisk 603220 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 3; KCNK3 TWIK-RELATED ACID-SENSITIVE K+ CHANNEL; TASK;; TASK1
Percent 603221 MYOPIA 3, AUTOSOMAL DOMINANT; MYP3
Asterisk 603222 U22 HOST GENE U22HG;; UHG
Asterisk 603223 RNA, U22 SMALL NUCLEOLAR; RNU22 snoRNA, U22;; RNA Y
Asterisk 603224 RNA, U25 SMALL NUCLEOLAR; RNU25 snoRNA, U25
Asterisk 603225 RNA, U26 SMALL NUCLEOLAR; RNU26 snoRNA, U26
Asterisk 603226 RNA, U27 SMALL NUCLEOLAR; RNU27 snoRNA, U27
Asterisk 603227 RNA, U28 SMALL NUCLEOLAR; RNU28 snoRNA, U28
Asterisk 603228 RNA, U29 SMALL NUCLEOLAR; RNU29 snoRNA, U29
Asterisk 603229 RNA, U30 SMALL NUCLEOLAR; RNU30 snoRNA, U30
Asterisk 603230 RNA, U31 SMALL NUCLEOLAR; RNU31 snoRNA, U31
Asterisk 603231 ZINC FINGER PROTEIN 200; ZNF200
Asterisk 603232 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY F, MEMBER 1; OR1F1 OLFMF
Number Sign 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B PHP IB
Asterisk 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6 ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;; MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6
Asterisk 603235 SELENOPROTEIN W; SELENOW SELW;; SELENOPROTEIN W, 1; SEPW1
Asterisk 603236 MEVALONATE PYROPHOSPHATE DECARBOXYLASE; MVD MPD
Asterisk 603237 ERYTHROCYTE MEMBRANE PROTEIN 4.1-LIKE 2; EPB41L2 NONERYTHROID PROTEIN 4.1, GENERAL TYPE; 4.1G
Asterisk 603238 RNA, U17D SMALL NUCLEOLAR; RNU17D snoRNA, U17D U17 HOST GENE, INCLUDED; U17HG, INCLUDED
Asterisk 603239 SMALL NUCLEOLAR RNA, H/ACA BOX, 73B; SNORA73B RNA, U17B SMALL NUCLEOLAR; RNU17B;; snoRNA, U17B
Asterisk 603240 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 18, ANTISENSE; SLC22A18AS SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1-LIKE-ANTISENSE; SLC22A1LS;; ORGANIC-CATION TRANSPORTER-LIKE 2-ANTISENSE; ORCTL2S;; ORCTL2-ANTISENSE;; BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION 1, CANDIDATE B; BWSCR1B;; BECKWITH-WIEDEMANN REGION 1B; BWR1B
Asterisk 603241 LIMBIC SYSTEM-ASSOCIATED MEMBRANE PROTEIN; LSAMP LAMP;; IGLON3
Asterisk 603242 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER B; CLEC2B LECTIN, C-TYPE, SUPERFAMILY MEMBER 2; CLECSF2;; ACTIVATION-INDUCED C-TYPE LECTIN; AICL;; LECTIN, C-TYPE, ACTIVATION-INDUCED
Asterisk 603243 AUTOCRINE MOTILITY FACTOR RECEPTOR; AMFR GP78
Asterisk 603244 HEPARAN SULFATE (GLUCOSAMINE) 3-O-SULFOTRANSFERASE 1; HS3ST1 HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 1;; 3OST;; 3OST1
Asterisk 603245 NK2 HOMEOBOX 8; NKX2-8 NK2, DROSOPHILA, HOMOLOG OF, 8; NKX2.8;; NK2, DROSOPHILA, HOMOLOG OF, H; NKX2H;; NKX2-9, MOUSE, HOMOLOG OF
Asterisk 603246 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 1; GTF3C1 TRANSCRIPTION FACTOR IIIC, ALPHA SUBUNIT;; TFIIIC-ALPHA;; TF3C-ALPHA;; TFIIIC, 220-KD SUBUNIT
Asterisk 603247 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 2; SLC27A2 FATTY ACID TRANSPORT PROTEIN 2; FATP2;; FATTY ACID CoA LIGASE, VERY LONG CHAIN 1; FACVL1;; VERY LONG CHAIN ACYL-CoA SYNTHETASE; VLACS; VLCS;; ACYL-CoA SYNTHETASE VERY LONG CHAIN FAMILY, MEMBER 1; ACSVL1
Asterisk 603248 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB; BMPR1B ACTIVIN RECEPTOR-LIKE KINASE 6; ALK6
Asterisk 603249 NIPSNAP, C. ELEGANS, HOMOLOG OF, 1; NIPSNAP1 4-NITROPHENYLPHOSPHATASE DOMAIN AND NONNEURONAL SNAP25-LIKE 1
Asterisk 603250 FORKHEAD BOX F2; FOXF2 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 6; FKHL6;; FORKHEAD-RELATED ACTIVATOR 2; FREAC2
Asterisk 603251 CYCLIN-DEPENDENT KINASE 9; CDK9 PITALRE;; CTK1, YEAST, HOMOLOG OF; CTK1
Asterisk 603252 FORKHEAD BOX L1; FOXL1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 11; FKHL11;; FORKHEAD-RELATED ACTIVATOR 7; FREAC7;; FKH6
Asterisk 603253 CYSTATIN 7; CST7 CYSTATIN F; CF;; CYSTATIN-LIKE METASTASIS-ASSOCIATED PROTEIN; CMAP;; LEUKOCYSTATIN
Asterisk 603254 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 4; SMARCA4 BRM/SWI2-RELATED GENE 1; BRG1;; SNF2-BETA
Asterisk 603255 NUCLEAR TRANSCRIPTION FACTOR, X BOX-BINDING, 1; NFX1
Asterisk 603256 LEUCINE-RICH REPEAT IN FLII-INTERACTING PROTEIN 1; LRRFIP1 TRANSCRIPTION FACTOR 9-LIKE;; GC-BINDING FACTOR 2; GCF2;; TAR RNA-INTERACTING PROTEIN; TRIP;; FLII LRR-ASSOCIATED PROTEIN 1; FLAP1
Asterisk 603257 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 3; SMARCA3 HELICASE-LIKE TRANSCRIPTION FACTOR; HLTF;; HIP116;; SUCROSE NONFERMENTING, YEAST, HOMOLOG-LIKE 3; SNF2L3;; SNF2-LIKE 3
Asterisk 603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF, BETA; IKBKB NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, KINASE OF, BETA; NFKBIKB;; I-KAPPA-B KINASE-BETA;; IKK-BETA; IKKB;; I-KAPPA-B KINASE 2; IKK2
Caret 603259 MOVED TO 191195
Asterisk 603260 BarH-LIKE HOMEOBOX GENE 1; BARX1
Asterisk 603261 PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE, TYPE II, BETA; PIP4K2B PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE, BETA; PI5P4KB;; PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE II, BETA; PIP5K2B
Asterisk 603262 3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 1; PAPSS1 PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 1;; PAPS SYNTHASE 1;; PAPS SYNTHETASE 1;; ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 1; ATPSK1;; ATP SULFURYLASE/APS KINASE 1;; SK1
Asterisk 603263 CARBONIC ANHYDRASE XII; CA12 CA XII
Asterisk 603264 RHOMBOID-LIKE 1; RHBDL1 RHBDL;; DROSOPHILA RHOMBOID-LIKE;; RHOMBOID-RELATED PROTEIN; RRP
Asterisk 603265 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 3A; ARID3A ARID-CONTAINING PROTEIN 3A;; DEAD RINGER, DROSOPHILA, HOMOLOG-LIKE 1; DRIL1
Percent 603266 DIABETES MELLITUS, INSULIN-DEPENDENT, 17; IDDM17 INSULIN-DEPENDENT DIABETES MELLITUS 17
Asterisk 603267 SMALL OPTIC LOBES, DROSOPHILA, HOMOLOG OF; SOLH
Asterisk 603268 N-DEACETYLASE/N-SULFOTRANSFERASE 2; NDST2 HEPARAN GLUCOSAMINYL N-DEACETYLASE/N-SULFOTRANSFERASE 2;; HEPARAN SULFATE N-DEACETYLASE/N-SULFOTRANSFERASE 2;; HEPARAN N-SULFOTRANSFERASE 2
Asterisk 603269 SPLICING FACTOR, SERINE/ARGININE-RICH, 8; SRSF8 SERINE/ARGININE-RICH SPLICING FACTOR 8;; SPLICING FACTOR, ARGININE/SERINE-RICH, 2B; SFRS2B;; SPLICING FACTOR, ARGININE/SERINE-RICH, 46-KD; SRp46
Asterisk 603270 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT B, ISOFORM 1; ATP5F1
Asterisk 603271 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 21; PTPN21 PROTEIN-TYROSINE PHOSPHATASE D1; PTPD1
Asterisk 603272 CONNECTOR ENHANCER OF KINASE SUPPRESSOR OF RAS 1; CNKSR1 CONNECTOR ENHANCER OF KSR 1;; CNK, DROSOPHILA, HOMOLOG OF;; CNK1
Asterisk 603273 TUMOR PROTEIN p63; TP63 TUMOR PROTEIN p73-LIKE; TP73L;; p53-RELATED PROTEIN p63; p63;; KET
Caret 603274 MOVED TO 602961
Asterisk 603275 PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE I, ALPHA; PIP5K1A
Asterisk 603276 REGULATOR OF G PROTEIN SIGNALING 5; RGS5
Asterisk 603277 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 4; CHD4 Mi2-BETA
Number Sign 603278 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1
Asterisk 603279 EXPANDED REPEAT DOMAIN, CAG/CTG, 1; ERDA1
Caret 603280 MOVED TO 157640
Asterisk 603281 2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE-LIKE; OASL THYROID HORMONE RECEPTOR INTERACTOR 14; TRIP14;; p59OASL
NULL 603282 ZINC FINGER PROTEIN 204; ZNF204 ZINC FINGER PROTEIN 204 PSEUDOGENE, INCLUDED;; ZNF204 PSEUDOGENE, INCLUDED
Asterisk 603283 TRIADIN; TRDN TRISK
Number Sign 603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
Number Sign 603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3
Asterisk 603286 KISS1 METASTASIS SUPPRESSOR; KISS1 METASTIN;; KISSPEPTIN
Asterisk 603287 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE; PNPO PYRIDOXAMINE-PHOSPHATE OXIDASE
Asterisk 603288 KERATOCAN; KERA
Asterisk 603289 DEATH-ASSOCIATED PROTEIN KINASE 3; DAPK3 ZIP KINASE; ZIPK
Asterisk 603290 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 2; SHANK2 CORTACTIN-BINDING PROTEIN 1; CORTBP1
Asterisk 603291 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 1; BNIP1 NIP1
Asterisk 603292 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 2; BNIP2 NIP2
Asterisk 603293 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 3; BNIP3 NIP3
Asterisk 603294 MINICHROMOSOME MAINTENANCE 3-ASSOCIATED PROTEIN; MCM3AP MCM3-ASSOCIATED PROTEIN, 80-KD; MAP80;; GERMINAL CENTER-ASSOCIATED NUCLEAR PROTEIN; GANP
Asterisk 603295 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 9; SMAD9 MADH9;; SMA- AND MAD-RELATED PROTEIN 9;; SMAD8;; MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 6, FORMERLY; MADH6, FORMERLY
Asterisk 603296 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MITOGEN-ACTIVATED PROTEIN KINASE AND MAMMALIAN TARGET OF RAPAMYCIN ACTIVATOR 3; LAMTOR3 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MAPK AND MTOR ACTIVATOR 3;; MEK PARTNER 1; MP1;; MAPBP;; MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1-INTERACTING PROTEIN 1, FORMERLY; MAP2K1IP1, FORMERLY
Asterisk 603297 DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; DYNC2H1 DNCH2; DHC2;; DYNEIN HEAVY CHAIN, ISOTYPE 1B; DHC1B
Asterisk 603298 PALMITOYL-PROTEIN THIOESTERASE 2; PPT2 G14
Caret 603299 MOVED TO 603339
Asterisk 603300 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 2; TNFAIP2 EXOCYST COMPLEX COMPONENT 3-LIKE 3; EXOC3L3
Asterisk 603301 KRUPPEL-LIKE FACTOR 11; KLF11 TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE EARLY GROWTH RESPONSE 2; TIEG2;; TGFB-INDUCIBLE EARLY GROWTH RESPONSE 2;; KRUPPEL-LIKE TRANSCRIPTION FACTOR 1; FKLF1; FKLF
Asterisk 603302 ADENYLATE CYCLASE 9; ADCY9 ADENYLYL CYCLASE 9
Asterisk 603303 TRF1-INTERACTING, ANKYRIN-RELATED ADP-RIBOSE POLYMERASE; TNKS TANKYRASE 1
Asterisk 603304 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 2; IRAK2
Asterisk 603305 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 1; KCNH1 Kv10.1;; ETHER-A-GO-GO, DROSOPHILA, HOMOLOG OF; EAG
Asterisk 603306 TRANSCRIPTION FACTOR 21; TCF21 EPICARDIN;; PODOCYTE-EXPRESSED 1; POD1;; CAPSULIN
Asterisk 603307 BEADED FILAMENT STRUCTURAL PROTEIN 1; BFSP1 CYTOSKELETAL PROTEIN, 115-KD; CP115;; FILENSIN
Asterisk 603308 CATHEPSIN L2; CTSL2 CATHEPSIN V; CTSV
Asterisk 603309 CYCLIN-DEPENDENT KINASE 13; CDK13 CELL DIVISION CYCLE 2-LIKE 5; CDC2L5;; CELL DIVISION CONTROLLER, CHOLINESTERASE-RELATED; CHED
Asterisk 603310 PHOSPHODIESTERASE 5A; PDE5A
Asterisk 603311 CELL DIVISION CYCLE 7, S. CEREVISIAE, HOMOLOG-LIKE 1; CDC7L1 CDC7
Asterisk 603312 BUTYROBETAINE-GAMMA,2-OXOGLUTARATE DIOXYGENASE 1; BBOX1 GAMMA-BUTYROBETAINE HYDROXYLASE; GAMMA-BBH
Asterisk 603313 ALG10, S. CEREVISIAE, HOMOLOG OF; ALG10 POTASSIUM CHANNEL REGULATOR 1;; KCR1
Asterisk 603314 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 5; SLC27A5 FATTY ACID TRANSPORT PROTEIN 5; FATP5;; VERY LONG CHAIN ACYL-CoA SYNTHETASE-RELATED PROTEIN; VLACSR;; VLCS HOMOLOG 2; VLCSH2;; ACYL-CoA SYNTHETASE VERY LONG CHAIN FAMILY, MEMBER 6; ACSVL6
Asterisk 603315 FREQUENIN, DROSOPHILA, HOMOLOG OF; FREQ NEURONAL CALCIUM SENSOR 1; NCS1
Asterisk 603316 CYTIDINE 5-PRIME-MONOPHOSPHATE N-ACETYLNEURAMINIC ACID SYNTHETASE; CMAS CMP-Neu5Ac SYNTHETASE
Asterisk 603317 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, Q; PTPRQ PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, EXPRESSED BY GLOMERULAR MESANGIAL CELLS 1; PTPGMC1
Caret 603318 MOVED TO 603345
Asterisk 603319 ANNEXIN A9; ANXA9 ANNEXIN 31, FORMERLY; ANX31, FORMERLY
Asterisk 603320 MATRIX METALLOPROTEINASE 23A; MMP23A MATRIX METALLOPROTEINASE 21, FORMERLY; MMP21, FORMERLY
Asterisk 603321 MATRIX METALLOPROTEINASE 23B; MMP23B MATRIX METALLOPROTEINASE 22, FORMERLY; MMP22, FORMERLY
Asterisk 603322 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 6; NDUFB6 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, B17 SUBUNIT; B17
NULL 603323 MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY
Plus 603324 GAP JUNCTION PROTEIN, BETA-3; GJB3 GAP JUNCTION PROTEIN, 31-KD;; CONNEXIN 31; CX31 DEAFNESS, AUTOSOMAL RECESSIVE, INCLUDED;; DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY, INCLUDED
Asterisk 603325 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9B; PPP1R9B PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9; PPP1R9;; SPINOPHILIN; SPINO;; NEURABIN II
Asterisk 603326 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3D; PPP1R3D PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 6; PPP1R6
Asterisk 603327 RAN-BINDING PROTEIN 3; RANBP3
Asterisk 603328 MUSASHI, DROSOPHILA, HOMOLOG OF, 1; MSI1
Caret 603329 MOVED TO 300931
Asterisk 603330 DYNEIN, AXONEMAL, HEAVY CHAIN 9; DNAH9 DYNEIN, AXONEMAL, HEAVY CHAIN 17-LIKE; DNAH17L;; DYNEIN, AXONEMAL, LIGHT INTERMEDIATE CHAIN 1; DNEL1;; HL20
Asterisk 603331 DYNEIN, CYTOPLASMIC 1, INTERMEDIATE CHAIN 2; DYNC1I2 DNCI2;; IC2
Asterisk 603332 DYNEIN, AXONEMAL, HEAVY CHAIN 1; DNAH1 HL11;; DNAHC1;; HDHC7
Asterisk 603333 DYNEIN, AXONEMAL, HEAVY CHAIN 2; DNAH2 DNAHC2
Asterisk 603334 DYNEIN, AXONEMAL, HEAVY CHAIN 3; DNAH3 DNAHC3B
Asterisk 603335 DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5 HL1
Asterisk 603336 DYNEIN, AXONEMAL, HEAVY CHAIN 6; DNAH6 HL2;; KIAA1697
Asterisk 603337 DYNEIN, AXONEMAL, HEAVY CHAIN 8; DNAH8 HDHC9
Caret 603338 MOVED TO 603330
Asterisk 603339 DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11 DNAHC11;; DPL11;; DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL
Asterisk 603340 DYNEIN, AXONEMAL, HEAVY CHAIN 12; DNAH12 DNAHC3;; HL19;; HDHC3;; DHC3
Asterisk 603341 DYNEIN, AXONEMAL, HEAVY CHAIN 14; DNAH14 HL18
Percent 603342 SCHIZOPHRENIA 2; SCZD2 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 11q-RELATED
Asterisk 603343 RNA EXPORT 1, S. POMBE, HOMOLOG OF; RAE1 mRNA-BINDING PROTEIN, 41-KD; MRNP41
Asterisk 603344 USO1 VESICLE DOCKING PROTEIN, S. CEREVISIAE, HOMOLOG OF; USO1 VESICLE DOCKING PROTEIN, 115-KD; p115;; TRANSCYTOSIS-ASSOCIATED PROTEIN; TAP;; TAP/p115
Asterisk 603345 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 4; SLC4A4 SODIUM BICARBONATE COTRANSPORTER 1; NBC1;; SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 5, FORMERLY; SLC4A5, FORMERLY SODIUM BICARBONATE COTRANSPORTER, KIDNEY, INCLUDED; KNBC, INCLUDED; KNBC1, INCLUDED;; SODIUM BICARBONATE COTRANSPORTER, PANCREAS, INCLUDED; PNBC, INCLUDED; PNBC1, INCLUDED;; SODIUM BICARBONATE COTRANSPORTER, HEART, INCLUDED; HHNBC, INCLUDED; HHNBC1, INCLUDED
Asterisk 603346 NEURONAL PAS DOMAIN PROTEIN 1; NPAS1 MEMBER OF PAS SUPERFAMILY 5; MOP5
Asterisk 603347 NEURONAL PAS DOMAIN PROTEIN 2; NPAS2 MEMBER OF PAS SUPERFAMILY 4; MOP4
Asterisk 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A HIF1-ALPHA;; MEMBER OF PAS SUPERFAMILY 1; MOP1
Asterisk 603349 ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1 MEMBER OF PAS SUPERFAMILY 2; MOP2;; HYPOXIA-INDUCIBLE FACTOR 2, ALPHA SUBUNIT;; HIF2-ALPHA; HIF2A
Asterisk 603350 2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE 2; OAS2 2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE, 69-KD;; p69
Asterisk 603351 2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE 3; OAS3 2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE, 100-KD;; p100
Asterisk 603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5 APOPTOSIS INHIBITOR 4; API4;; SURVIVIN
Asterisk 603353 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 7; SLC4A7 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 6, FORMERLY; SLC4A6, FORMERLY SODIUM BICARBONATE COTRANSPORTER 2, INCLUDED; NBC2, INCLUDED;; SODIUM BICARBONATE COTRANSPORTER 3, INCLUDED; NBC3, INCLUDED;; SODIUM BICARBONATE COTRANSPORTER 3, MUSCLE, INCLUDED; MNBC3, INCLUDED
Asterisk 603354 GASTRULATION BRAIN HOMEOBOX 1; GBX1
Asterisk 603355 MEMBRANE-BOUND TRANSCRIPTION FACTOR PROTEASE, SITE 1; MBTPS1 SITE-1 PROTEASE; S1P
Asterisk 603356 CD164 ANTIGEN; CD164 SIALOMUCIN CD164;; ENDOLYN
Asterisk 603357 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 7; SERPINB7 MESANGIUM-PREDOMINANT GENE; MEGSIN
Number Sign 603358 GRACILE SYNDROME GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH;; FINNISH LETHAL NEONATAL METABOLIC SYNDROME; FLNMS;; LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS;; FELLMAN SYNDROME
Asterisk 603359 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 8; NDUFA8
Asterisk 603360 PEROXISOME BIOGENESIS FACTOR 16; PEX16 PEROXIN 16
Asterisk 603361 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6B; TNFRSF6B DECOY RECEPTOR 3; DCR3;; TR6
Asterisk 603362 SH3 DOMAIN, GRB2-LIKE, 3; SH3GL3 SH3p13;; ENDOPHILIN A3
Asterisk 603363 CGG-BINDING PROTEIN 1; CGGBP1 CGG-BINDING PROTEIN, 20-KD;; p20CGGBP
Asterisk 603364 SPLICING FACTOR, SERINE/ARGININE-RICH, 3; SRSF3 SERINE/ARGININE-RICH SPLICING FACTOR 3;; SPLICING FACTOR, ARGININE/SERINE-RICH, 3; SFRS3;; SPLICING FACTOR, ARGININE/SERINE-RICH, 20-KD; SRp20
Asterisk 603365 HIRA-INTERACTING PROTEIN 3; HIRIP3
Asterisk 603366 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 25; TNFRSF25 TNFR25;; APO3;; DEATH RECEPTOR 3; DR3;; LYMPHOCYTE-ASSOCIATED RECEPTOR OF DEATH; LARD;; TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 12, FORMERLY; TNFRSF12, FORMERLY
Caret 603367 MOVED TO 300255
Asterisk 603368 CYCLIN-DEPENDENT KINASE 6; CDK6 PLSTIRE CDK6/MLL FUSION GENE, INCLUDED
Asterisk 603369 CYCLIN-DEPENDENT KINASE INHIBITOR 2C; CDKN2C p18(INK4C)
Asterisk 603370 UDP-GLUCOSE DEHYDROGENASE; UGDH UDPGDH
Asterisk 603371 GLE1, RNA EXPORT MEDIATOR; GLE1 GLE1, S. CEREVISIAE, HOMOLOG OF;; GLE1-LIKE PROTEIN; GLE1L
Plus 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR THYROTROPIN RECEPTOR;; LGR3 THYROID ADENOMA, HYPERFUNCTIONING, INCLUDED;; THYROID CARCINOMA WITH THYROTOXICOSIS, INCLUDED
Number Sign 603373 HYPERTHYROIDISM, FAMILIAL GESTATIONAL
Caret 603374 MOVED TO 300186
Asterisk 603375 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 5; SMARCA5 SUCROSE NONFERMENTING, YEAST, HOMOLOG OF; SNF2H;; WCRF135
NULL 603376 LONG CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF
Asterisk 603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5 ORGANIC CATION TRANSPORTER 2; OCTN2
Asterisk 603378 SIN3-ASSOCIATED POLYPEPTIDE, 30-KD; SAP30
Asterisk 603379 IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 1; IQGAP1 RASGAP-LIKE WITH IQ MOTIFS;; p195;; SAR1, S. POMBE, HOMOLOG OF; SAR1;; HUMORFA01
Asterisk 603380 LIN7, C. ELEGANS, HOMOLOG OF, A; LIN7A VERTEBRATE LIN7 HOMOLOG 1; VELI1;; MAMMALIAN LIN7 HOMOLOG 1; MALS1
Asterisk 603381 FILAMIN B; FLNB FILAMIN, BETA;; ACTIN-BINDING PROTEIN 276/278; ABP276/278 TRUNCATED ACTIN-BINDING PROTEIN, INCLUDED; TABP, INCLUDED;; ACTIN-BINDING PROTEIN, TRUNCATED, INCLUDED;; FILAMIN HOMOLOG 1, INCLUDED; FH1, INCLUDED
Asterisk 603382 MutS, E. COLI, HOMOLOG OF, 5; MSH5
Number Sign 603383 GLAUCOMA 1, OPEN ANGLE, F; GLC1F GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET
Asterisk 603384 SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1 GTPase-ACTIVATING PROTEIN, RAS, SYNAPTIC, 135-KD, RAT, HOMOLOG OF;; RAS-GTPase-ACTIVATING PROTEIN, SYNAPTIC, 135-KD, RAT, HOMOLOG OF;; SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN, 135-KD, RAT, HOMOLOG OF;; SYNGAP, p135, RAT, HOMOLOG OF; SYNGAP
Asterisk 603385 NEDD8-ACTIVATING ENZYME E1, SUBUNIT 1; NAE1 AMYLOID BETA PRECURSOR PROTEIN-BINDING PROTEIN 1; APPBP1
Percent 603386 THYROID CARCINOMA, NONMEDULLARY, WITH OR WITHOUT CELL OXYPHILIA TCO;; TCO1
Number Sign 603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1 MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME; MPPH;; MEG-PMG-MEGACC SYNDROME;; MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT
Percent 603388 GRAVES DISEASE, SUSCEPTIBILITY TO, 2 GRD2
NULL 603389 OSEBOLD SKELETAL DYSPLASIA/OSTEOLYSIS SYNDROME
Asterisk 603390 PHOSPHODIESTERASE 8B; PDE8B
Caret 603391 MOVED TO 139210
Asterisk 603392 BCL2-INTERACTING KILLER; BIK NBK
NULL 603393 OSTEOSCLEROTIC CHONDRODYSPLASIA, LETHAL, WITH INTRACELLULAR INCLUSIONS
NULL 603394 MICROCEPHALY, SEVERE, WITH SKELETAL ANOMALIES INCLUDING POSTERIOR RIB-GAP DEFECTS
Asterisk 603395 SPERM-ASSOCIATED ANTIGEN 1; SPAG1
NULL 603396 TONOKI SYNDROME
Asterisk 603397 ZINC FINGER PROTEIN 282; ZNF282 HTLV-1 U5 REPRESSIVE ELEMENT-BINDING PROTEIN 1; HUB1
Asterisk 603398 WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 1; WISP1
Asterisk 603399 WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 2; WISP2 CCN FAMILY, MEMBER 5; CCN5
Asterisk 603400 WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 3; WISP3
Asterisk 603401 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1 ADAPTIN, BETA-3A; ADTB3A;; HPS2 GENE; HPS2;; PEARL, MOUSE, HOMOLOG OF; PE
Asterisk 603402 ACYL-CoA OXIDASE 3, PRISTANOYL; ACOX3 ACYL-CoA OXIDASE, PRISTANOYL, PEROXISOMAL;; PRISTANOYL-CoA OXIDASE
Asterisk 603403 DEAH BOX POLYPEPTIDE 15; DHX15 DEAD/H BOX 15; DDX15;; DEAH BOX PROTEIN 1; DBP1;; PRP43, S. CEREVISIAE, HOMOLOG OF;; RNA HELICASE 2; HRH2
Asterisk 603404 ZINC FINGER PROTEIN 169; ZNF169
Asterisk 603405 DEAH BOX POLYPEPTIDE 16; DHX16 DEAD/H BOX 16; DDX16;; DEAH-BOX PROTEIN 2; DBP2;; PRP8, S. POMBE, HOMOLOG OF;; MISSION IMPOSSIBLE, ZEBRAFISH, HOMOLOG OF; MIS;; KIAA0577
Asterisk 603406 TRIPARTITE MOTIF-CONTAINING PROTEIN 24; TRIM24 TRANSCRIPTIONAL INTERMEDIARY FACTOR 1; TIF1;; TRANSCRIPTIONAL INTERMEDIARY FACTOR 1-ALPHA; TIF1A PTC6 CHIMERIC ONCOGENE, INCLUDED
Asterisk 603407 POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 4; PABPC4 POLYADENYLATE-BINDING PROTEIN 4; PABP4;; POLY(A)-BINDING PROTEIN 4;; POLYADENYLATE-BINDING PROTEIN, INDUCIBLE; IPABP;; ACTIVATED-PLATELET PROTEIN 1; APP1
Asterisk 603408 FRIZZLED, DROSOPHILA, HOMOLOG OF, 1; FZD1 FZ1
Asterisk 603409 FRIZZLED, DROSOPHILA, HOMOLOG OF, 6; FZD6
Asterisk 603410 FRIZZLED, DROSOPHILA, HOMOLOG OF, 7; FZD7 FZE3
Asterisk 603411 EFFECTOR CELL PROTEASE RECEPTOR 1; EPR1
Asterisk 603412 CDC42-BINDING PROTEIN KINASE, ALPHA; CDC42BPA CDC42BP-ALPHA;; PROTEIN KINASE, SERINE/THREONINE, RELATED TO THE MYOTONIC DYSTROPHY PROTEIN KINASE;; PK428;; MYOTONIC DYSTROPHY KINASE-RELATED CDC42-BINDING KINASE, ALPHA; MRCKA;; MRCK-ALPHA
Asterisk 603413 TIA1 CYTOTOXIC GRANULE-ASSOCIATED RNA-BINDING PROTEIN-LIKE 1; TIAL1 TIA1-RELATED PROTEIN; TIAR;; T CLUSTER-BINDING PROTEIN; TCBP
Asterisk 603414 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 2; TM7SF2 ANG1
Asterisk 603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A NAV1.7;; NEUROENDOCRINE SODIUM CHANNEL; NENA;; PERIPHERAL SODIUM CHANNEL 1; PN1
NULL 603416 RIBOSOMAL PROTEIN L21 PSEUDOGENE 1; RPL21P1
Asterisk 603417 RAB-INTERACTING FACTOR; RABIF RAS-SPECIFIC GUANINE-RELEASING FACTOR 3; RASGRF3;; MAMMALIAN SUPPRESSOR OF SEC4; MSS4
Asterisk 603418 ALDO-KETO REDUCTASE FAMILY 7, MEMBER A2; AKR7A2 ALDO-KETO REDUCTASE 7; AKR7;; AFLATOXIN B1-ALDEHYDE REDUCTASE; AFAR
Asterisk 603419 SMALL GLUTAMINE-RICH TETRATRICOPEPTIDE REPEAT-CONTAINING PROTEIN, ALPHA; SGTA SMALL GLUTAMINE-RICH TETRATRICOPEPTIDE REPEAT-CONTAINING PROTEIN; SGT
Asterisk 603420 CALUMENIN; CALU
Asterisk 603421 TRANSMEMBRANE PROTEIN WITH EGF-LIKE AND 2 FOLLISTATIN-LIKE DOMAINS 1; TMEFF1 CHROMOSOME 9 OPEN READING FRAME 2; C9ORF2
Asterisk 603422 PDZ AND LIM DOMAIN PROTEIN 4; PDLIM4 LIM DOMAIN PROTEIN RIL
Asterisk 603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1 B LYMPHOCYTE-INDUCED MATURATION PROTEIN 1; BLIMP1;; POSITIVE REGULATORY DOMAIN I-BINDING FACTOR 1; PRDIBF1
Asterisk 603424 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-DEPENDENT ACTIVATOR; PRKRA PROTEIN ACTIVATOR OF INTERFERON-INDUCED PROTEIN KINASE; PACT;; PKR PROTEIN ACTIVATOR;; RAX
Asterisk 603425 ADP-RIBOSYLATION FACTOR-LIKE 1; ARL1
Asterisk 603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2
Asterisk 603427 PERIOD, DROSOPHILA, HOMOLOG OF, 3; PER3
Asterisk 603428 ZINC FINGER PROTEIN 207; ZNF207
Asterisk 603429 ATP-BINDING CASSETTE, SUBFAMILY F, MEMBER 1; ABCF1 ATP-BINDING CASSETTE 50; ABC50
Asterisk 603430 ZINC FINGER PROTEIN 202; ZNF202
Asterisk 603431 EUKARYOTIC TRANSLATION INITIATION FACTOR 4H; EIF4H WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 1; WBSCR1;; WSCR1
Asterisk 603432 CAP-GLY DOMAIN-CONTAINING LINKER PROTEIN 2; CLIP2 CYTOPLASMIC LINKER 2; CYLN2;; WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 4; WBSCR4; WSCR4;; CYTOPLASMIC LINKER PROTEIN 115; CLIP115
Asterisk 603433 ZINC FINGER PROTEIN 143; ZNF143 SPH-BINDING FACTOR; SBF
Asterisk 603434 PHOSPHOPROTEIN ENRICHED IN ASTROCYTES, 15-KD; PEA15 PHOSPHOPROTEIN ENRICHED IN DIABETES; PED;; MAMMARY TRANSFORMING GENE 1, MOUSE, HOMOLOG OF; HMAT1;; MAT1, MOUSE, HOMOLOG OF
Asterisk 603435 GLUTATHIONE PEROXIDASE 5; GPX5 GLUTATHIONE PEROXIDASE, EPIDIDYMAL
Asterisk 603436 ZINC FINGER PROTEIN 205; ZNF205 ZINC FINGER PROTEIN 210; ZNF210
Asterisk 603437 COLD-SHOCK DOMAIN PROTEIN A; CSDA DNA-BINDING PROTEIN A; DBPA
NULL 603438 RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS, AND MENTAL RETARDATION TSUKAHARA SYNDROME;; GIUFFRE-TSUKAHARA SYNDROME
NULL 603439 EXPANSILE BONE LESIONS
Asterisk 603440 CYCLIN-DEPENDENT KINASE 17; CDK17 PCTAIRE PROTEIN KINASE 2; PCTK2;; PCTAIRE2
Asterisk 603441 CYCLIN-DEPENDENT KINASE-LIKE 1; CDKL1 KKIALRE;; p42
Asterisk 603442 CYCLIN-DEPENDENT KINASE-LIKE 2; CDKL2 KKIAMRE;; p56
Asterisk 603443 VACUOLAR PROTEIN SORTING 52, S. CEREVISIAE, HOMOLOG OF; VPS52 SUPPRESSOR OF ACTIN MUTATIONS 2, S. CEREVISIAE, HOMOLOG-LIKE; SACM2L
Asterisk 603444 FAR UPSTREAM ELEMENT-BINDING PROTEIN 1; FUBP1 FAR UPSTREAM ELEMENT-BINDING PROTEIN; FUBP;; FUSE-BINDING PROTEIN; FBP
Asterisk 603445 KH-TYPE SPLICING REGULATORY PROTEIN; KHSRP KSRP;; FAR UPSTREAM ELEMENT-BINDING PROTEIN 2; FUBP2;; FUSE-BINDING PROTEIN 2; FBP2
NULL 603446 OROACRAL SYNDROME, VERLOES-KOULISCHER TYPE
Asterisk 603447 HARAKIRI; HRK BCL2-INTERACTING PROTEIN;; DP5
Asterisk 603448 DISABLED, DROSOPHILA, HOMOLOG OF, 1; DAB1
Asterisk 603449 RUVB, E. COLI, HOMOLOG-LIKE 1; RUVBL1 NUCLEAR MATRIX PROTEIN 238; NMP238;; TATA BOX-BINDING PROTEIN-INTERACTING PROTEIN, 49-KD; TIP49;; TBP-INTERACTING PROTEIN, 49-KD;; PONTIN 52;; PONTIN;; ERYTHROCYTE CYTOSOLIC PROTEIN, 54-KD; ECP54
Asterisk 603450 LIM DOMAIN-BINDING 2; LDB2 CARBOXYL-TERMINAL LIM DOMAIN PROTEIN 1; CLIM1
Asterisk 603451 LIM DOMAIN-BINDING 1; LDB1 CARBOXYL-TERMINAL LIM DOMAIN PROTEIN 2; CLIM2;; NUCLEAR LIM DOMAIN INTERACTOR; NLI
Caret 603452 MOVED TO 602712
Asterisk 603453 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 1; RIPK1 RECEPTOR-INTERACTING PROTEIN; RIP;; RIP1
Asterisk 603454 CASP2 AND RIPK1 DOMAIN-CONTAINING ADAPTOR WITH DEATH DOMAIN; CRADD CASPASE AND RIP ADAPTOR WITH DEATH DOMAIN;; RIP-ASSOCIATED ICH1/CED3-HOMOLOGOUS PROTEIN WITH DEATH DOMAIN; RAIDD
Asterisk 603455 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 2; RIPK2 CARD-CONTAINING ICE-ASSOCIATED KINASE; CARDIAK;; RECEPTOR-INTERACTING PROTEIN 2; RIP2;; RIP-LIKE INTERACTING CLARP KINASE; RICK
Asterisk 603456 DPH2, S. CEREVISIAE, HOMOLOG OF; DPH2 DPH2-LIKE 2; DPH2L2
Number Sign 603457 BOSMA ARHINIA MICROPHTHALMIA SYNDROME; BAMS ARHINIA, CHOANAL ATRESIA, MICROPHTHALMIA, AND HYPOGONADOTROPIC HYPOGONADISM
Asterisk 603458 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 3; ELAVL3 HU-ANTIGEN C; HUC;; PARANEOPLASTIC LIMBIC ENCEPHALITIS ANTIGEN 21; PLE21
Caret 603459 MOVED TO 160980
Asterisk 603460 CYCLIN-DEPENDENT KINASE 5, REGULATORY SUBUNIT 1; CDK5R1 NEURONAL CDK5 ACTIVATOR; NCK5A;; CYCLIN-DEPENDENT KINASE 5, REGULATORY PARTNER, 35-KD; p35(NCK5A);; p35 p25, INCLUDED
Asterisk 603461 CELL DIVISION CYCLE 16, S. CEREVISIAE, HOMOLOG OF; CDC16 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 6; APC6
Asterisk 603462 CELL DIVISION CYCLE 23; CDC23 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 8; APC8;; ANAPC8
NULL 603463 HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS
Asterisk 603464 CYCLIN-DEPENDENT KINASE 10; CDK10 PISSLRE
Asterisk 603465 CELL DIVISION CYCLE 45; CDC45 CDC45, S. CEREVISIAE, HOMOLOG OF;; CDC45-LIKE; CDC45L;; CDC45L2
Asterisk 603466 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 1; ELAVL1 HU-ANTIGEN R; HuR
Number Sign 603467 FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF
Caret 603468 MOVED TO 227650
Caret 603469 MOVED TO 603240
Asterisk 603470 ARGININOSUCCINATE SYNTHETASE 1; ASS1 ASS ARGININOSUCCINATE SYNTHETASE PSEUDOGENES, INCLUDED
Number Sign 603471 CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 CITRIN DEFICIENCY
NULL 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE NIID
Asterisk 603473 LARGE TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 1; LATS1
Asterisk 603474 RIBOSOMAL PROTEIN S19; RPS19
Asterisk 603475 CHORDIN; CHRD
Asterisk 603476 cAMP RESPONSE ELEMENT-BINDING PROTEIN-LIKE 2; CREBL2
Asterisk 603477 BUD31, S. CEREVISIAE, HOMOLOG OF; BUD31 G10 MATERNAL TRANSCRIPT, XENOPUS, HOMOLOG OF
Asterisk 603478 UBIQUITIN-SPECIFIC PROTEASE 1; USP1
Asterisk 603479 EXTRACELLULAR MATRIX PROTEIN 2; ECM2
Caret 603480 MOVED TO 300880
Asterisk 603481 PROTEASOME 26S SUBUNIT, NON-ATPase, 13; PSMD13 p40.5;; PROTEASE 26S, SUBUNIT 11; S11
Asterisk 603482 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC BETA-TRCP;; BTRCP; BTRCP1;; SLIMB, DROSOPHILA, HOMOLOG OF;; F-BOX AND WD40 DOMAIN PROTEIN 1A; FBXW1A; FBW1A;; FBXW1
Asterisk 603483 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 3; EIF4EBP3 4EBP3
Asterisk 603484 PROTEIN REGULATING CYTOKINESIS 1; PRC1
Asterisk 603485 NITROGEN FIXATION GENE 1; NFS1 NITROGEN-FIXING BACTERIA S, HOMOLOG OF; NIFS;; CYSTEINE DESULFURASE;; ISCS
Asterisk 603486 UBIQUITIN-SPECIFIC PROTEASE 4; USP4 UBIQUITIN-SPECIFIC PROTEASE; UNP
Asterisk 603487 MYOSIN, SKELETAL MUSCLE, HEAVY CHAIN 13; MYH13 MYOSIN, HEAVY CHAIN, EXTRAOCULAR MUSCLE;; EO MYOSIN;; MYHC-EO
Asterisk 603488 ANGIO-ASSOCIATED MIGRATORY CELL PROTEIN; AAMP
Asterisk 603489 CARTILAGE INTERMEDIATE LAYER PROTEIN; CILP CILP1 NUCLEOTIDE PYROPHOSPHOHYDROLASE, PORCINE, HOMOLOG OF, INCLUDED;; NTPPHase, PORCINE, HOMOLOG OF, INCLUDED
Asterisk 603490 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4; WNT4
Asterisk 603491 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 3; IGSF3
Asterisk 603492 SLAM FAMILY, MEMBER 1; SLAMF1 SIGNALING LYMPHOCYTE ACTIVATION MOLECULE; SLAM;; CDW150;; CD150
Asterisk 603493 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 5; KCNK5 TASK2
Asterisk 603494 PREFOLDIN-LIKE CHAPERONE URI1; URI1 NNX3 PROTEIN; NNX3;; RNA POLYMERASE II, SUBUNIT 5-MEDIATING PROTEIN; RMP;; RPB5-MEDIATING PROTEIN;; UNCONVENTIONAL PREFOLDIN RPB5 INTERACTOR; URI
Asterisk 603495 AURORA KINASE C; AURKC SERINE/THREONINE PROTEIN KINASE 13; STK13;; AURORA/IPL1/EG2-2; AIE2;; AURORA/IPL1-LIKE KINASE 3; AIK3
Asterisk 603496 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 2; DYRK2
Asterisk 603497 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 3; DYRK3
Asterisk 603498 SPHINGOMYELIN PHOSPHODIESTERASE 2, NEUTRAL MEMBRANE; SMPD2 SPHINGOMYELINASE, NEUTRAL, 1; NSMASE1
Asterisk 603499 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11A; TNFRSF11A RECEPTOR ACTIVATOR OF NF-KAPPA-B; RANK;; OSTEOCLAST DIFFERENTIATION FACTOR RECEPTOR; ODFR;; PDB2 GENE;; TRANCER;; LOSS OF HETEROZYGOSITY, CHROMOSOME 18, REGION 1; LOH18CR1;; OSTEOSARCOMA TUMOR SUPPRESSOR; OSTS
Asterisk 603500 TUMOR NECROSIS FACTOR RECEPTOR 1-ASSOCIATED DEATH DOMAIN PROTEIN; TRADD TNFR1-ASSOCIATED DEATH DOMAIN PROTEIN
Asterisk 603501 POLY(ADP-RIBOSE) GLYCOHYDROLASE; PARG
Asterisk 603502 INTERFERON-RELATED DEVELOPMENTAL REGULATOR 1; IFRD1 TETRADECANOYL PHORBOL ACETATE-INDUCED SEQUENCE 7; TIS7;; TPA-INDUCED SEQUENCE 7;; PC4
Asterisk 603503 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DPM1 DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE 1;; DOLICHOL-PHOSPHATE-MANNOSE SYNTHASE 1;; MPD SYNTHASE; MPDS
Asterisk 603504 CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG A; CDC14A
Asterisk 603505 CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG B; CDC14B
Asterisk 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 7; LRP7;; LR3
Asterisk 603507 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 6; LRP6
Asterisk 603508 MYOMESIN 1; MYOM1 TITIN-ASSOCIATED PROTEIN, 185-KD;; TITIN-ASSOCIATED PROTEIN, 190-KD;; SKELEMIN
Asterisk 603509 MYOMESIN 2; MYOM2 TITIN-ASSOCIATED PROTEIN, 165-KD;; M BAND PROTEIN
Caret 603510 MOVED TO 300904
Number Sign 603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E; LGMD1E MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D, FORMERLY; LGMD1D, FORMERLY
Asterisk 603512 RNA GUANYLYLTRANSFERASE AND 5-PRIME-PHOSPHATASE; RNGTT HUMAN CAPPING ENZYME 1; HCE1;; CAPPING ENZYME 1, HUMAN;; CAP1A
Number Sign 603513 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1
Asterisk 603514 RNA GUANINE-7-METHYLTRANSFERASE; RNMT MET
Asterisk 603515 CHORIONIC SOMATOMAMMOTROPIN HORMONE-LIKE 1; CSHL1 CHORIONIC SOMATOMAMMOTROPIN-LIKE; CSL
Number Sign 603516 SPINOCEREBELLAR ATAXIA 10; SCA10
Asterisk 603517 B-CELL CLL/LYMPHOMA 10; BCL10 B-CELL LEUKEMIA/LYMPHOMA 10
Asterisk 603518 TIA1 CYTOTOXIC GRANULE-ASSOCIATED RNA-BINDING PROTEIN; TIA1
Asterisk 603519 SURVIVAL MOTOR NEURON DOMAIN-CONTAINING PROTEIN 1; SMNDC1 SURVIVAL OF MOTOR NEURON-RELATED PROTEIN; SMNR;; SMN-RELATED PROTEIN
Asterisk 603520 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE B-DOUBLE PRIME; SNRPB2
Asterisk 603521 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE A-PRIME; SNRPA1
Asterisk 603522 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE C; SNRPC
NULL 603523 CHYLOTHORAX, CONGENITAL HYDROTHORAX, CONGENITAL
Asterisk 603524 RCC1 DOMAIN- AND BTB DOMAIN-CONTAINING PROTEIN 2; RCBTB2 CHROMOSOME CONDENSATION 1-LIKE; CHC1L
Asterisk 603525 NMYC INTERACTOR; NMI NMYC AND STAT INTERACTOR
Asterisk 603526 METASTASIS-ASSOCIATED GENE 1; MTA1
Asterisk 603527 DPH1, S. CEREVISIAE, HOMOLOG OF; DPH1 DPH2-LIKE 1; DPH2L1;; OVARIAN CANCER-ASSOCIATED GENE 1; OVCA1
Caret 603528 MOVED TO 194380
NULL 603529 DYSERYTHROPOIESIS, CONGENITAL, WITH ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN
NULL 603530 LIGHT FIXATION SEIZURE SYNDROME LFSS;; M SYNDROME
Asterisk 603531 ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-1 SUBUNIT; AP1S1 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 1; CLAPS1;; CLATHRIN ADAPTOR PROTEIN 19; AP19;; CLATHRIN ADAPTOR COMPLEX AP1, SIGMA-1A SUBUNIT
Caret 603532 MOVED TO 300629
Asterisk 603533 ADAPTOR-RELATED PROTEIN COMPLEX 1, GAMMA-1 SUBUNIT; AP1G1 ADAPTIN, GAMMA; ADTG;; CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, LARGE, GAMMA-1; CLAPG1
Asterisk 603534 ADAPTOR-RELATED PROTEIN COMPLEX 1, GAMMA-2 SUBUNIT; AP1G2 ADAPTIN, GAMMA-2;; CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, LARGE, GAMMA-2
Asterisk 603535 ADAPTOR-RELATED PROTEIN COMPLEX 1, MU-1 SUBUNIT; AP1M1 CLATHRIN ASSEMBLY PROTEIN COMPLEX AP1, MU SUBUNIT;; CLATHRIN ADAPTOR PROTEIN AP47; AP47;; MU-1A
Asterisk 603536 FAR UPSTREAM ELEMENT-BINDING PROTEIN 3; FUBP3 FUSE-BINDING PROTEIN 3; FBP3
Asterisk 603537 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4; KCNQ4 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 4
Asterisk 603538 KYNURENINE 3-MONOOXYGENASE; KMO KYNURENINE 3-HYDROXYLASE
Asterisk 603539 CATHEPSIN F; CTSF
Asterisk 603540 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 1; GABBR1 GABA-B RECEPTOR, R1 SUBUNIT; GABABR1
Asterisk 603541 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE F; SNRPF
Asterisk 603542 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE G; SNRPG
Number Sign 603543 LIMB-MAMMARY SYNDROME; LMS
Asterisk 603544 CYCLIN K; CCNK CYCK
Caret 603545 MOVED TO 600791
Number Sign 603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2; SEMDJL2 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE;; SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLIC TYPE;; SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALL TYPE
Asterisk 603547 METHYL-CpG-BINDING DOMAIN PROTEIN 2; MBD2 DEMETHYLASE; DMTase
Asterisk 603548 CDP-DIACYLGLYCEROL SYNTHASE 1; CDS1 PHOSPHATIDATE CYTIDYLYLTRANSFERASE 1
Asterisk 603549 CDP-DIACYLGLYCEROL SYNTHASE 2; CDS2 PHOSPHATIDATE CYTIDYLYLTRANSFERASE 2
Asterisk 603550 EYES ABSENT 4; EYA4 EYES ABSENT, DROSOPHILA, HOMOLOG OF, 4
Asterisk 603551 HYALURONOGLUCOSAMINIDASE 2; HYAL2 LUCA2;; HYALURONIDASE 2
Number Sign 603552 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 HPLH4;; HLH4
Number Sign 603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 HPLH2;; HLH2
Number Sign 603554 OMENN SYNDROME RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA;; SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA
Asterisk 603555 SUPPRESSOR OF TY 4, S. CEREVISIAE, HOMOLOG OF, 1; SUPT4H1 SUPT4H
Caret 603556 MOVED TO 300171
Asterisk 603557 MYOTUBULARIN-RELATED PROTEIN 2; MTMR2 KIAA1073
Asterisk 603558 MYOTUBULARIN-RELATED PROTEIN 3; MTMR3 KIAA0371
Asterisk 603559 MYOTUBULARIN-RELATED PROTEIN 4; MTMR4 KIAA0647
Asterisk 603560 SET-BINDING FACTOR 1; SBF1 MYOTUBULARIN-RELATED PROTEIN 5; MTMR5
Asterisk 603561 MYOTUBULARIN-RELATED PROTEIN 6; MTMR6
Asterisk 603562 MYOTUBULARIN-RELATED PROTEIN 7; MTMR7
Number Sign 603563 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8
Asterisk 603564 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 2, REGULATORY SUBUNIT; DPM2 DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE 2;; DOLICHOL-PHOSPHATE MANNOSE SYNTHASE 2
Asterisk 603565 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 4; GALNT4 GalNAc TRANSFERASE 4; GalNAcT4
Asterisk 603566 PROTEIN INHIBITOR OF ACTIVATED STAT1; PIAS1 DEAD/H BOX-BINDING PROTEIN 1; DDXBP1;; GU-BINDING PROTEIN; GBP
Asterisk 603567 PROTEIN INHIBITOR OF ACTIVATED STAT2; PIAS2 PROTEIN INHIBITOR OF ACTIVATED STAT X; PIASX;; MIZ1 PIASX-ALPHA, INCLUDED;; PIASX-BETA, INCLUDED
Asterisk 603568 RNA, U73 SMALL NUCLEOLAR; RNU73 snoRNA, U73
NULL 603569 TRACHEOBRONCHIAL STENOSIS, CONGENITAL
Plus 603570 VANIN 1; VNN1 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8, INCLUDED; HDLCQ8, INCLUDED
Asterisk 603571 VANIN 2; VNN2
NULL 603572 MICROCEPHALY, FACIAL ABNORMALITIES, MICROMELIA, AND MENTAL RETARDATION
Asterisk 603573 METHYL-CpG-BINDING DOMAIN PROTEIN 3; MBD3
Asterisk 603574 METHYL-CpG-BINDING DOMAIN PROTEIN 4; MBD4 METHYL-CpG-BINDING ENDONUCLEASE; MED1
Asterisk 603575 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 5; NME5 NONMETASTATIC CELLS 5, PROTEIN EXPRESSED IN;; NONMETASTATIC PROTEIN 23, HOMOLOG 5; NM23H5;; RADIAL SPOKE HEAD 23, CHLAMYDOMONAS, HOMOLOG OF; RSPH23
Asterisk 603576 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 1; TRPM1 MELASTATIN 1; MLSN1
Asterisk 603577 NUCLEOLAR PROTEIN 4; NOL4 NUCLEOLAR-LOCALIZED PROTEIN; NOLP
Asterisk 603578 OVIDUCTAL GLYCOPROTEIN 1; OVGP1 OVIDUCTAL GLYCOPROTEIN, 120-KD
Asterisk 603579 RIO KINASE 3; RIOK3 SUDD, ASPERGILLUS NIDULANS, HOMOLOG OF; SUDD
Asterisk 603580 PROTOCADHERIN 8; PCDH8
Asterisk 603581 PROTOCADHERIN 9; PCDH9
Asterisk 603582 TOPOISOMERASE, DNA, III, BETA; TOP3B TOPOISOMERASE III-BETA
Asterisk 603583 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 2; DLG2 CHANNEL-ASSOCIATED PROTEIN OF SYNAPSES, 110-KD;; CHAPSYN-110
Asterisk 603584 MAP KINASE-ACTIVATING DEATH DOMAIN; MADD DIFFERENTIALLY EXPRESSED IN NORMAL AND NEOPLASTIC CELLS; DENN;; INSULINOMA-GLUCAGONOMA PROTEIN 20; IG20;; RAB3 GDP/GTP EXCHANGE PROTEIN; RAB3GEP;; KIAA0358
Number Sign 603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F CDG IIf; CDGIIf
Caret 603586 MOVED TO 603147
NULL 603587 FOLLICULAR ATROPHODERMA, PERIORAL PIGMENTED, WITH MILIA AND EPIDERMOID CYSTS
NULL 603588 PAROTITIS, JUVENILE RECURRENT
NULL 603589 FACIAL DYSMORPHISM, SELECTIVE TOOTH AGENESIS, AND CHOROID CALCIFICATION
Asterisk 603590 ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE1 LARGE;; KIAA0609;; LIKE-GLYCOSYLTRANSFERASE
Asterisk 603591 UBIQUITIN-SPECIFIC PROTEASE 13; USP13 ISOPEPTIDASE T3; ISOT3
Number Sign 603592 XANTHINURIA, TYPE II; XAN2 XANTHINE DEHYDROGENASE AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF
Asterisk 603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 7; SLC7A7 y(+)L-TYPE AMINO ACID TRANSPORTER 1;; y(+)LAT1
Asterisk 603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4 GLYCOPROTEIN, 34-KD; GP34;; OX40 ANTIGEN LIGAND; OX40L;; CD134 LIGAND; CD134L
NULL 603595 CRANIOSYNOSTOSIS WITH ECTOPIA LENTIS
Number Sign 603596 POLYDACTYLY
Asterisk 603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1 STAT-INDUCED STAT INHIBITOR 1; SSI1;; CYTOKINE-INDUCIBLE SH2 PROTEIN 1; CIS1; CISH1;; JAK-BINDING PROTEIN; JAB;; TEC-INTERACTING PROTEIN 3; TIP3
Asterisk 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10 TNF-RELATED APOPTOSIS-INDUCING LIGAND; TRAIL;; APO2 LIGAND; APO2L
Asterisk 603599 CASP8- AND FADD-LIKE APOPTOSIS REGULATOR; CFLAR FLICE INHIBITORY PROTEIN; FLIP;; INHIBITOR OF FLICE; I-FLICE;; CASPASE-EIGHT-RELATED PROTEIN; CASPER;; FADD-LIKE ANTIAPOPTOTIC MOLECULE 1; FLAME1;; CASPASE HOMOLOG; CASH;; CASPASE-LIKE APOPTOSIS REGULATORY PROTEIN; CLARP;; MACH-RELATED INDUCER OF TOXICITY; MRIT
NULL 603600 OSTEOMA OF CRANIAL VAULT, FAMILIAL
Asterisk 603601 PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 2, ALPHA; PIK3C2A C2-CONTAINING PHOSPHATIDYLINOSITOL KINASE; CPK
Asterisk 603602 PHOSPHOLIPASE A2, GROUP IVC; PLA2G4C PHOSPHOLIPASE A2, CYTOSOLIC, CALCIUM-INDEPENDENT, GAMMA;; CPLA2-GAMMA
Asterisk 603603 PHOSPHOLIPASE A2, GROUP X; PLA2G10 SECRETORY PHOSPHOLIPASE A2, GROUP X; SPLA2;; PHOSPHOLIPASE A2, SECRETORY, CALCIUM-DEPENDENT, GROUP X; GXSPLA2
Asterisk 603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6 PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT; IPLA2;; PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 9; PNPLA9;; PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, GROUP VI, A;; IPLA2-VIA
Asterisk 603605 AMINOACYL-tRNA SYNTHETASE COMPLEX-INTERACTING MULTIFUNCTIONAL PROTEIN 1; AIMP1 ARS-INTERACTING MULTIFUNCTIONAL PROTEIN 1;; ENDOTHELIAL MONOCYTE-ACTIVATING POLYPEPTIDE 2; EMAP2; EMAPII;; SMALL INDUCIBLE CYTOKINE SUBFAMILY E, MEMBER 1, FORMERLY; SCYE1, FORMERLY
Asterisk 603606 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 4; RPS6KA4 RIBOSOMAL S6 KINASE B; RSKB;; MITOGEN- AND STRESS-ACTIVATED PROTEIN KINASE 2; MSK2
Asterisk 603607 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 5; RPS6KA5 MITOGEN- AND STRESS-ACTIVATED PROTEIN KINASE 1; MSK1
Asterisk 603608 CARBONYL REDUCTASE 3; CBR3
Asterisk 603609 FUCOSE-1-PHOSPHATE GUANYLYLTRANSFERASE; FPGT GDP-BETA-L-FUCOSE PYROPHOSPHORYLASE; GFPP
Asterisk 603610 UNC5, C. ELEGANS, HOMOLOG OF, C; UNC5C UNC5H3
Asterisk 603611 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10A; TNFRSF10A DEATH RECEPTOR 4; DR4;; TNF-RELATED APOPTOSIS-INDUCING LIGAND RECEPTOR 1; TRAILR1;; APO2
Asterisk 603612 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10B; TNFRSF10B DEATH RECEPTOR 5; DR5;; TNF-RELATED APOPTOSIS-INDUCING LIGAND RECEPTOR 2; TRAILR2;; KILLER/DR5;; TRICK2
Asterisk 603613 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10C; TNFRSF10C DECOY RECEPTOR 1; DCR1;; TNF-RELATED APOPTOSIS-INDUCING LIGAND RECEPTOR 3; TRAILR3;; TRAIL RECEPTOR WITHOUT AN INTRACELLULAR DOMAIN; TRID
Asterisk 603614 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10D; TNFRSF10D DECOY RECEPTOR 2; DCR2;; TNF-RELATED APOPTOSIS-INDUCING LIGAND RECEPTOR 4; TRAILR4;; TRAIL RECEPTOR WITH A TRUNCATED DEATH DOMAIN; TRUNDD
Asterisk 603615 RAD54, S. CEREVISIAE, HOMOLOG-LIKE; RAD54L HR54;; HRAD54
Asterisk 603616 RABAPTIN, RAB GTPase-BINDING EFFECTOR PROTEIN 1; RABEP1 RABAPTIN 5; RABPT5 RABEP1/PDGFRB FUSION GENE, INCLUDED
Asterisk 603617 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 1; SLC24A1 SODIUM/CALCIUM/POTASSIUM EXCHANGER 1; NCKX1
Asterisk 603618 CELL DIVISION CYCLE 20, S. CEREVISIAE, HOMOLOG OF; CDC20 p55CDC
Asterisk 603619 FIZZY-RELATED PROTEIN, DROSOPHILA, HOMOLOG OF, 1; FZR1 FZR, DROSOPHILA, HOMOLOG OF, 1;; CDH1/HCT1, S. CEREVISIAE, HOMOLOG OF; HCDH; HCDH1
Asterisk 603620 PC4- AND SFRS1-INTERACTING PROTEIN 1; PSIP1 TRANSCRIPTIONAL COACTIVATOR p75; p75;; LENS EPITHELIUM-DERIVED GROWTH FACTOR; LEDGF TRANSCRIPTIONAL COACTIVATOR p52, INCLUDED
Asterisk 603621 FORKHEAD BOX H1; FOXH1 FORKHEAD ACTIVIN SIGNAL TRANSDUCER 1, XENOPUS, HOMOLOG OF; FAST1;; TGF-BETA/ACTIVIN SIGNAL TRANSDUCER FAST1
Number Sign 603622 DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17 COCHLEOSACCULAR DEGENERATION, INCLUDED
Asterisk 603623 TYROSYL-tRNA SYNTHETASE; YARS TYRRS;; YTS;; YRS
Asterisk 603624 RIBOSOMAL PROTEIN S2; RPS2
Asterisk 603625 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS H; LY6H
Asterisk 603626 PROTOCADHERIN 1; PCDH1 PC42
Asterisk 603627 PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 3; PCDHGC3 PCDH-GAMMA-C3;; PC43;; PROTOCADHERIN 2, FORMERLY; PCDH2, FORMERLY
Asterisk 603628 MUSCULIN; MSC ACTIVATED B-CELL FACTOR 1; ABF1;; MYOGENIC REPRESSOR; MYOR
Number Sign 603629 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21
Asterisk 603630 RIBOSOMAL PROTEIN S5; RPS5
Asterisk 603631 RIBOSOMAL PROTEIN S9; RPS9
Asterisk 603632 RIBOSOMAL PROTEIN S10; RPS10
Asterisk 603633 RIBOSOMAL PROTEIN S29; RPS29
Asterisk 603634 RIBOSOMAL PROTEIN L5; RPL5
Asterisk 603635 RNA, U21 SMALL NUCLEOLAR; RNU21 snoRNA, U21
Asterisk 603636 RIBOSOMAL PROTEIN L21; RPL21
Asterisk 603637 RIBOSOMAL PROTEIN L27a; RPL27A
Asterisk 603638 RIBOSOMAL PROTEIN L28; RPL28
Asterisk 603639 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 17; ADAM17 TUMOR NECROSIS FACTOR-ALPHA CONVERTING ENZYME; TACE
Asterisk 603640 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 19; ADAM19 MELTRIN-BETA, MOUSE, HOMOLOG OF; MLTNB
NULL 603641 NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARING LOSS, AND ENAMEL HYPOPLASIA
NULL 603642 ATRIAL SEPTAL DEFECT, SECUNDUM, WITH VARIOUS CARDIAC AND NONCARDIAC DEFECTS
NULL 603643 SITUS INVERSUS TOTALIS WITH CYSTIC DYSPLASIA OF KIDNEYS AND PANCREAS
Asterisk 603644 SCO1 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN; SCO1 SCO1, S. CEREVISIAE, HOMOLOG OF;; CYTOCHROME OXIDASE-DEFICIENT 1, S. CEREVISIAE, HOMOLOG OF; SCOD1
Asterisk 603645 GLUTAMYL-tRNA AMIDOTRANSFERASE, SUBUNIT B; GATB GLUTAMYL-tRNA-GLN AMIDOTRANSFERASE, SUBUNIT B, MITOCHONDRIAL;; PET112, S. CEREVISIAE, HOMOLOG OF; PET112;; PET112-LIKE; PET112L
Asterisk 603646 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX15; COX15 COX15, S. CEREVISIAE, HOMOLOG OF
Asterisk 603647 BCS1, S. CEREVISIAE, HOMOLOG-LIKE; BCS1L
Asterisk 603648 CYTOCHROME c OXIDASE COPPER CHAPERONE COX11; COX11 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX11;; COX11, S. CEREVISIAE, HOMOLOG OF
Number Sign 603649 CONE-ROD DYSTROPHY 7; CORD7
Asterisk 603650 BBS5 GENE; BBS5
Asterisk 603651 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 4; TRPC4 TRANSIENT RECEPTOR POTENTIAL CHANNEL 4;; TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 4; TRP4;; TRPC4-ALPHA TRPC4-BETA, INCLUDED
Asterisk 603652 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6; TRPC6 TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 6; TRP6
Caret 603653 REMOVED FROM DATABASE
Asterisk 603654 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 7; SLC16A7 MONOCARBOXYLATE TRANSPORTER 2; MCT2
Caret 603655 MOVED TO 139391
NULL 603656 EXOSTOSIS, DUPUYTREN SUBUNGUAL
Asterisk 603657 VESICLE-ASSOCIATED MEMBRANE PROTEIN 3; VAMP3 CELLUBREVIN; CEB
Asterisk 603658 RIBOSOMAL PROTEIN S7; RPS7
Asterisk 603659 GLUCAGON-LIKE PEPTIDE 2 RECEPTOR; GLP2R
Asterisk 603660 RIBOSOMAL PROTEIN S12; RPS12
Asterisk 603661 RIBOSOMAL PROTEIN L17; RPL17
Asterisk 603662 RIBOSOMAL PROTEIN L23; RPL23
Percent 603663 MENTAL HEALTH WELLNESS 1 MHW1
NULL 603664 MENTAL HEALTH WELLNESS 2 MHW2
Asterisk 603665 STANNIOCALCIN 2; STC2 STANNIOCALCIN-RELATED PROTEIN; STCRP
Asterisk 603666 SYNTAXIN 16; STX16 SYN16
Asterisk 603667 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ARALAR), MEMBER 12; SLC25A12 ARALAR;; ASPARTATE-GLUTAMATE CARRIER ISOFORM 1, MITOCHONDRIAL; AGC1
Asterisk 603668 SR-RELATED C-TERMINAL DOMAIN-ASSOCIATED FACTOR 11; SCAF11 SR-RELATED CTD-ASSOCIATED FACTOR 11;; SPLICING FACTOR, ARGININE/SERINE-RICH, 2-INTERACTING PROTEIN; SFRS2IP;; SFRS2-INTERACTING PROTEIN;; SC35-INTERACTING PROTEIN 1; SIP1;; CTD-ASSOCIATED SR PROTEIN 11; CASP11;; SR-RELATED PROTEIN, 129-KD; SRRP129
NULL 603669 ECCRINE SYRINGOFIBROADENOMATOSIS WITH EYELID ABNORMALITIES
NULL 603670 BLUE NEVI, FAMILIAL MULTIPLE
Number Sign 603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND
Asterisk 603672 CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2, TRANSLOCATED TO, 2; CBFA2T2 MYELOID TRANSLOCATION GENE-RELATED PROTEIN 1; MTGR1;; ETO HOMOLOG ON CHROMOSOME 20; EHT;; ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 3; ZMYND3
Asterisk 603673 PATCHED, DROSOPHILA, HOMOLOG OF, 2; PTCH2
Asterisk 603674 RIBOSOMAL PROTEIN S15a; RPS15A
Asterisk 603675 RIBOSOMAL PROTEIN S16; RPS16
Caret 603676 MOVED TO 181350
Asterisk 603677 MYELIN TRANSCRIPTION FACTOR 2; MYT2 CEREBRIN 50
Percent 603678 DEAFNESS, AUTOSOMAL RECESSIVE 14; DFNB14
Asterisk 603679 UBIQUITIN-CONJUGATING ENZYME E2N; UBE2N UBIQUITIN-CONJUGATING ENZYME 13, S. CEREVISIAE, HOMOLOG OF; UBC13; UBCH13;; BENDLESS, DROSOPHILA, HOMOLOG OF; UBCHBEN
Asterisk 603680 ATAXIN 8 OPPOSITE STRAND; ATXN8OS SCA8 GENE; SCA8;; KLHL1AS
Asterisk 603681 OTOFERLIN; OTOF
Asterisk 603682 RIBOSOMAL PROTEIN S20; RPS20
Asterisk 603683 RIBOSOMAL PROTEIN S23; RPS23
Asterisk 603684 LIPASE, ENDOTHELIAL; LIPG EL;; ENDOTHELIAL CELL-DERIVED LIPASE; EDL
Asterisk 603685 RIBOSOMAL PROTEIN S28; RPS28
Asterisk 603686 RIBOSOMAL PROTEIN L9; RPL9
Asterisk 603687 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A2; ALDH1A2 RETINALDEHYDE DEHYDROGENASE 2; RALDH2
Number Sign 603688 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY PCBC;; CAPB
Number Sign 603689 HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; MPRM;; EDSTROM MYOPATHY
Asterisk 603690 SOLUTE CARRIER FAMILY 33 (ACETYL-CoA TRANSPORTER), MEMBER 1; SLC33A1 ACETYL-CoA TRANSPORTER; ACATN;; AT1
Asterisk 603691 GALANIN RECEPTOR 2; GALR2 GALNR2
Asterisk 603692 GALANIN RECEPTOR 3; GALR3
Asterisk 603693 ZINC FINGER PROTEIN, MULTITYPE 2; ZFPM2 FRIEND OF GATA2; FOG2;; TRANSCRIPTION FACTOR GATA4, MODULATOR OF FOG2/AML1 FUSION GENE, INCLUDED
Percent 603694 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 3 NIDDM3;; NONINSULIN-DEPENDENT DIABETES MELLITUS 3
Asterisk 603695 GUANYLATE CYCLASE 1, SOLUBLE, BETA-2; GUCY1B2 GUANYLATE CYCLASE, SOLUBLE, BETA-2;; GCS-BETA-2
Asterisk 603696 SEPTIN 4; SEPT4 SEP4;; PEANUT-LIKE 2; PNUTL2;; BRADEION;; APOPTOSIS-RELATED PROTEIN IN THE TGF-BETA SIGNALING PATHWAY; ARTS
Asterisk 603697 ARACHIDONATE 15-LIPOXYGENASE, SECOND TYPE; ALOX15B 15-LIPOXYGENASE, RETICULOCYTE ARACHIDONATE, SECOND TYPE
Asterisk 603698 GOLGI-SPECIFIC BREFELDIN-A RESISTANCE FACTOR 1; GBF1
Asterisk 603699 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 11; WNT11
Asterisk 603700 ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP FIVE-LIPOXYGENASE-ACTIVATING PROTEIN; FLAP;; 5-LIPOXYGENASE-ACTIVATING PROTEIN
Asterisk 603701 RIBOSOMAL PROTEIN S26; RPS26
Asterisk 603702 RIBOSOMAL PROTEIN S27; RPS27 METALLOPANSTIMULIN 1; MPS1
Asterisk 603703 RIBOSOMAL PROTEIN L6; RPL6
Asterisk 603704 RIBOSOMAL PROTEIN L26; RPL26
Asterisk 603705 ANGIOPOIETIN 4; ANGPT4 ANG4
Asterisk 603706 SEMAPHORIN 4F; SEMA4F SEMAPHORIN W; SEMAW;; SEMAPHORIN M; SEMAM
Asterisk 603707 MOLYBDENUM COFACTOR SYNTHESIS GENE 1; MOCS1 MOCS1A, INCLUDED;; MOCS1B, INCLUDED
Asterisk 603708 MOLYBDENUM COFACTOR SYNTHESIS GENE 2; MOCS2 MOLYBDOPTERIN SYNTHASE; MPTS;; MOCO1
Asterisk 603709 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 22; ADAM22 METALLOPROTEINASE-LIKE, DISINTEGRIN-LIKE, AND CYSTEINE-RICH PROTEIN 2; MDC2
Asterisk 603710 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 23; ADAM23 METALLOPROTEINASE-LIKE, DISINTEGRIN-LIKE, AND CYSTEINE-RICH PROTEIN 3; MDC3
Asterisk 603711 CYTOCHROME P450, FAMILY 7, SUBFAMILY B, POLYPEPTIDE 1; CYP7B1 OXYSTEROL 7-ALPHA-HYDROXYLASE 1
Asterisk 603712 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 20; ADAM20
Asterisk 603713 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 21; ADAM21
Asterisk 603714 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 3; SIX3
Asterisk 603715 GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, 1; GCM1 GCMA
Asterisk 603716 GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, 2; GCM2 GCMB
Asterisk 603717 ATPase, H+ TRANSPORTING, LYSOSOMAL, 21-KD, V0 SUBUNIT C-PRIME, PRIME; ATP6V0B ATPase, H+ TRANSPORTING, LYSOSOMAL, SUBUNIT F; ATP6F;; VACUOLAR PROTON PUMP, 21-KD SUBUNIT;; VMA16, S. CEREVISIAE, HOMOLOG OF; VMA16
Asterisk 603718 CLAUDIN 1; CLDN1 SENESCENCE-ASSOCIATED EPITHELIAL MEMBRANE PROTEIN 1; SEMP1
Asterisk 603719 BUDDING UNINHIBITED BY BENZIMIDAZOLES 3, S. CEREVISIAE, HOMOLOG OF; BUB3
Number Sign 603720 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16
Asterisk 603721 UBIQUITIN-CONJUGATING ENZYME E2L 3; UBE2L3 UBIQUITIN-CONJUGATING ENZYME UBCH7; UBCH7
Asterisk 603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE COMPLEX-ASSOCIATED PROTEIN; IKBKAP IKK COMPLEX-ASSOCIATED PROTEIN; IKAP;; ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 1; ELP1;; ELP1, YEAST, HOMOLOG OF
Caret 603723 MOVED TO 300248
Caret 603724 MOVED TO 300827
Asterisk 603725 FIBROBLAST GROWTH FACTOR 17; FGF17
Asterisk 603726 FIBROBLAST GROWTH FACTOR 18; FGF18
Asterisk 603727 GLUTAMINYL-tRNA SYNTHETASE; QARS GLNRS
Asterisk 603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB
Asterisk 603729 SPHINGOSINE-1-PHOSPHATE LYASE 1; SGPL1 SPL
Asterisk 603730 SPHINGOSINE KINASE 1; SPHK1
Asterisk 603731 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 8; CNOT8 CAF1-LIKE FACTOR; CALIF;; PKG PROMOTER-DIRECTED OVERPRODUCTION 2, S. CEREVISIAE, HOMOLOG OF; POP2
Asterisk 603732 CRYPTOCHROME 2; CRY2
Asterisk 603733 SOLUTE CARRIER FAMILY 43 (L-TYPE AMINO ACID TRANSPORTER), MEMBER 1; SLC43A1 L-TYPE AMINO ACID TRANSPORTER 3; LAT3;; PROSTATE CANCER OVEREXPRESSED GENE 1; POV1
Asterisk 603734 INTERFERON REGULATORY FACTOR 3; IRF3
Asterisk 603735 AMINE OXIDASE, COPPER-CONTAINING, 3; AOC3 HUMAN PLACENTA AMINE OXIDASE; HPAO;; VASCULAR ADHESION PROTEIN 1; VAP1
Number Sign 603736 OHDO SYNDROME, SBBYS VARIANT; SBBYSS SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME;; YOUNG-SIMPSON SYNDROME; YSS
NULL 603737 OVARIAN GERM CELL CANCER
Asterisk 603738 BASIC TRANSCRIPTION FACTOR 3-LIKE 2; BTF3L2
Asterisk 603739 BASIC TRANSCRIPTION FACTOR 3-LIKE 3; BTF3L3
NULL 603740 ACRODYSPLASIA WITH OSSIFICATION ABNORMALITIES, SHORT STATURE, AND FIBULAR HYPOPLASIA
Asterisk 603741 ARACHIDONATE 12-LIPOXYGENASE, R TYPE; ALOX12B 12R-LIPOXYGENASE;; 12R-LOX;; 12-LIPOXYGENASE, R TYPE
Asterisk 603742 SLIT, DROSOPHILA, HOMOLOG OF, 1; SLIT1 SLIT GUIDANCE LIGAND 1;; SLIL1;; MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 4; MEGF4
Asterisk 603743 APOLIPOPROTEIN L-I; APOL1 APOL;; APOL-I
NULL 603744 PAPILLARY THYROID MICROCARCINOMA
Asterisk 603745 SLIT, DROSOPHILA, HOMOLOG OF, 3; SLIT3 SLIT GUIDANCE LIGAND 3;; SLIL2;; MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 5; MEGF5
Asterisk 603746 SLIT, DROSOPHILA, HOMOLOG OF, 2; SLIT2 SLIT GUIDANCE LIGAND 2
Asterisk 603747 TUMOR PROTEIN D52-LIKE 2; TPD52L2 D54
Caret 603748 MOVED TO 300297
Asterisk 603749 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 2; TRPM2 TRANSIENT RECEPTOR POTENTIAL CHANNEL 7; TRPC7;; LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 2; LTRPC2;; KNP3
Asterisk 603750 AQUAPORIN 8; AQP8
Asterisk 603751 SPHINGOSINE-1-PHOSPHATE RECEPTOR 4; S1PR4 ENDOTHELIAL DIFFERENTIATION GENE 6; EDG6;; S1P RECEPTOR 4; S1P4
Asterisk 603752 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 4; SLC7A4 CATIONIC AMINO ACID TRANSPORTER 4; CAT4
Asterisk 603753 UBIQUITINATION FACTOR E4A; UBE4A UFD2, S. CEREVISIAE, HOMOLOG OF;; UBIQUITIN CONJUGATION FACTOR E4; E4
Asterisk 603754 KINESIN FAMILY MEMBER 3B; KIF3B KIAA0359
Asterisk 603755 ZINC FINGER FYVE TYPE-CONTAINING PROTEIN 9; ZFYVE9 SMAD ANCHOR FOR RECEPTOR ACTIVATION; SARA;; MADH-INTERACTING PROTEIN; MADHIP;; RECEPTOR ACTIVATION ANCHOR
Asterisk 603756 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 2; ABCG2 ATP-BINDING CASSETTE TRANSPORTER, PLACENTA-SPECIFIC; ABCP;; BREAST CANCER RESISTANCE PROTEIN; BCRP;; MITOXANTRONE-RESISTANCE PROTEIN; MRX
Asterisk 603757 CHEMOKINE, CC MOTIF, LIGAND 18; CCL18 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 18; SCYA18;; PULMONARY AND ACTIVATION-REGULATED CHEMOKINE; PARC;; ALTERNATIVE MACROPHAGE ACTIVATION-ASSOCIATED CC CHEMOKINE 1; AMAC1;; DENDRITIC CELL CHEMOKINE 1; DCCK1
Asterisk 603758 GLUTATHIONE S-TRANSFERASE, ZETA-1; GSTZ1 GLUTATHIONE S-TRANSFERASE Z1;; MALEYLACETOACETATE ISOMERASE; MAAI
Asterisk 603759 LIM HOMEOBOX GENE 2; LHX2 LIM HOX GENE 2; LH2
Asterisk 603760 HYDROXYUREA-SENSITIVE 1, S. POMBE, HOMOLOG OF; HUS1
Asterisk 603761 RAD9, S. POMBE, HOMOLOG OF, A; RAD9A RAD9, S. POMBE, HOMOLOG OF; RAD9
Asterisk 603762 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE-ASSOCIATED PROTEIN 2; PRPSAP2 PAP41
Asterisk 603763 KINESIN FAMILY MEMBER C1; KIFC1 KINESIN-LIKE 2; KNSL2;; HSET
Asterisk 603764 CYCLIN-DEPENDENT KINASE 5, REGULATORY SUBUNIT 2; CDK5R2 NEURONAL CDK5 ACTIVATOR ISOFORM; NCK5AI;; CYCLIN-DEPENDENT KINASE 5, REGULATORY PARTNER, 39-KD; p39;; p39(NCK5AI)
Asterisk 603765 SYNTAXIN 10; STX10 SYN10
Asterisk 603766 MITOCHONDRIAL TRANSLATIONAL INITIATION FACTOR 2; MTIF2
Asterisk 603767 KALLIKREIN-RELATED PEPTIDASE 4; KLK4 KALLIKREIN 4;; PROTEASE, SERINE, 17; PRSS17;; PROSTASE; PSTS;; ENAMEL MATRIX SERINE PROTEINASE 1; EMSP1
Asterisk 603768 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12B; PPP1R12B MYOSIN PHOSPHATASE TARGET SUBUNIT 2; MYPT2
Asterisk 603769 T-CELL LYMPHOMA/LEUKEMIA 1B; TCL1B TML1
Asterisk 603770 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1B; PPM1B PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1B;; PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, BETA ISOFORM;; PROTEIN PHOSPHATASE 2C, BETA ISOFORM, FORMERLY; PP2CB, FORMERLY
Asterisk 603771 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 10; PPP1R10 PROTEIN PHOSPHATASE 1 NUCLEAR TARGETING SUBUNIT; PNUTS;; PP1 NUCLEAR TARGETING SUBUNIT
Asterisk 603772 DYNEIN, CYTOPLASMIC 1, INTERMEDIATE CHAIN 1; DYNC1I1 DNCI1;; IC74
Asterisk 603773 CYTOCHROME c OXIDASE, SUBUNIT 5A; COX5A CYTOCHROME c OXIDASE, SUBUNIT Va
Asterisk 603774 CYTOCHROME c OXIDASE, SUBUNIT 7C; COX7C CYTOCHROME c OXIDASE, SUBUNIT VIIc
Asterisk 603775 CYCLIN E2; CCNE2
Number Sign 603776 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 FH3 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED; LDLCQ1, INCLUDED
Asterisk 603777 CERBERUS 1 HOMOLOG, CYSTINE KNOT SUPERFAMILY; CER1 CERBERUS, XENOPUS, HOMOLOG OF, 1
Asterisk 603778 CHROMODOMAIN PROTEIN ON Y CHROMOSOME-LIKE; CDYL
Asterisk 603779 SYNUCLEIN-ALPHA-INTERACTING PROTEIN; SNCAIP SYNPHILIN 1
Asterisk 603780 RECQ PROTEIN-LIKE 4; RECQL4 DNA HELICASE, RECQ-LIKE, TYPE 4; RECQ4
Asterisk 603781 RECQ PROTEIN-LIKE 5; RECQL5 DNA HELICASE, RECQ-LIKE, TYPE 5; RECQ5
Asterisk 603782 CHEMOKINE, CC MOTIF, LIGAND 4-LIKE 1; CCL4L1 CCL4L;; SMALL INDUCIBLE CYTOKINE A4-LIKE; SCYA4L;; LYMPHOCYTE ACTIVATION GENE 1; LAG1;; AT744.2
Percent 603783 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 1 INTLQ1;; COGNITIVE ABILITY, GENERAL SELF-PERCEIVED ABILITY, INCLUDED
Asterisk 603784 PITUITARY TUMOR-TRANSFORMING GENE 1 PROTEIN-INTERACTING PROTEIN; PTTG1IP PTTG-BINDING FACTOR; PBF;; CHROMOSOME 21 OPEN READING FRAME 1; C21ORF1;; CHROMOSOME 21 OPEN READING FRAME 3; C21ORF3
Asterisk 603785 MULTIPLE PDZ DOMAIN PROTEIN; MPDZ MUPP1
Number Sign 603786 STARGARDT DISEASE 4; STGD4
Asterisk 603787 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY F, MEMBER 1; KCNF1 KH1
Asterisk 603788 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 1; KCNG1 KH2
Caret 603789 MOVED TO 300237
Asterisk 603790 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 1; SLC23A1 SODIUM-DEPENDENT VITAMIN C TRANSPORTER 1; SVCT1;; YOLK SAC PERMEASE-LIKE MOLECULE 3; YSPL3
Asterisk 603791 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 2; SLC23A2 SODIUM-DEPENDENT VITAMIN C TRANSPORTER 2; SVCT2;; YOLK SAC PERMEASE-LIKE MOLECULE 2; YSPL2;; KIAA0238
Caret 603792 MOVED TO 300885
Caret 603793 REMOVED FROM DATABASE
NULL 603794 HYDROA VACCINIFORME, FAMILIAL
Asterisk 603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR; LITAF LPS-INDUCED TNF-ALPHA FACTOR;; SMALL INTEGRAL MEMBRANE PROTEIN OF LYSOSOME/LATE ENDOSOME; SIMPLE
Asterisk 603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2; KCNE2 MINIMUM POTASSIUM ION CHANNEL-RELATED PEPTIDE 1; MIRP1;; MINK-RELATED PEPTIDE 1
Asterisk 603797 CARBOHYDRATE SULFOTRANSFERASE 1; CHST1 KERATAN SULFATE GAL-6-SULFOTRANSFERASE; KSGAL6ST
Asterisk 603798 CARBOHYDRATE SULFOTRANSFERASE 2; CHST2 N-ACETYLGLUCOSAMINE-6-O-SULFOTRANSFERASE 1;; GlcNAc-6-O-SULFOTRANSFERASE;; GlcNAc6ST1;; GST2
Asterisk 603799 CARBOHYDRATE SULFOTRANSFERASE 3; CHST3 CHONDROITIN 6-SULFOTRANSFERASE; C6ST;; C6ST1
Asterisk 603800 MEDIATOR COMPLEX SUBUNIT 21; MED21 SUPPRESSOR OF RNA POLYMERASE B 7, S. CEREVISIAE, HOMOLOG OF; SURB7; SRB7
Asterisk 603801 N-MYRISTOYLTRANSFERASE 2; NMT2
Percent 603802 MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN
Asterisk 603803 DACHSHUND, DROSOPHILA, HOMOLOG OF, 1; DACH1 DACH
Asterisk 603804 NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 1; NEURL1 NEURALIZED-LIKE; NEURL;; NEUR1
Asterisk 603805 TRANSGLUTAMINASE 5; TGM5 TRANSGLUTAMINASE X; TGX
NULL 603806 URINARY TRACT INFECTIONS, RECURRENT, SUSCEPTIBILITY TO
Caret 603807 MOVED TO 107250
Asterisk 603808 MEDIATOR COMPLEX SUBUNIT 13; MED13 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 1; THRAP1;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 240-KD; TRAP240
Asterisk 603809 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 3; THRAP3 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 150-KD; TRAP150
Asterisk 603810 MEDIATOR COMPLEX SUBUNIT 17; MED17 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 17, S. CEREVISIAE, HOMOLOG OF;; COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 6; CRSP6;; CRSP, 77-KD SUBUNIT; CRSP77;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 80-KD SUBUNIT; TRAP80;; VITAMIN D RECEPTOR-INTERACTING PROTEIN, 80-KD; DRIP80
Asterisk 603811 BARRIER-TO-AUTOINTEGRATION FACTOR 1; BANF1 BARRIER-TO-AUTOINTEGRATION FACTOR; BAF
Asterisk 603812 DDB1- AND CUL4-ASSOCIATED FACTOR 5; DCAF5 WD REPEAT-CONTAINING PROTEIN 22; WDR22;; BREAKPOINT CLUSTER REGION PROTEIN 2; BCRP2;; D14S1461E
Number Sign 603813 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1, FORMERLY; ARH1, FORMERLY;; FHCB1, FORMERLY;; HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2, FORMERLY; ARH2, FORMERLY;; FHCB2, FORMERLY
Asterisk 603814 RING-BOX 1; RBX1 REGULATOR OF CULLINS 1; ROC1
Asterisk 603815 KINESIN FAMILY MEMBER 25; KIF25 KINESIN-LIKE 3; KNSL3
Asterisk 603816 AXIS INHIBITOR 1; AXIN1 AXIN;; FUSED, MOUSE, HOMOLOG OF
Asterisk 603817 DEVELOPMENT- AND DIFFERENTIATION-ENHANCING FACTOR 2; DDEF2 PYK C-TERMINUS ASSOCIATED PROTEIN; PAP;; KIAA0400
Asterisk 603818 NEUREGULIN 2; NRG2 DIVERGENT OF NEUREGULIN 1; DON1;; NEURAL- AND THYMUS-DERIVED ACTIVATOR FOR THE ERBB KINASE; NTAK
Asterisk 603819 STEROID RECEPTOR RNA ACTIVATOR 1; SRA1 SRA
Asterisk 603820 FREE FATTY ACID RECEPTOR 1; FFAR1 G PROTEIN-COUPLED RECEPTOR 40; GPR40
Asterisk 603821 FREE FATTY ACID RECEPTOR 3; FFAR3 G PROTEIN-COUPLED RECEPTOR 41; GPR41
Asterisk 603822 G PROTEIN-COUPLED RECEPTOR 42; GPR42
Asterisk 603823 FREE FATTY ACID RECEPTOR 2; FFAR2 G PROTEIN-COUPLED RECEPTOR 43; GPR43
Asterisk 603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; GNE GLCNE
Asterisk 603825 HYPERMETHYLATED IN CANCER 1; HIC1
Asterisk 603826 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4 FARNESOID X-ACTIVATED RECEPTOR; FXR;; RETINOID X RECEPTOR-INTERACTING PROTEIN 14; RIP14;; RXR-INTERACTING PROTEIN 14;; BILE ACID RECEPTOR; BAR
Asterisk 603827 BCL2-LIKE 11; BCL2L11 BCL2-INTERACTING PROTEIN BIM; BIM
NULL 603828 BRITTLE BONE DISORDER
Number Sign 603829 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1 VF;; IVF VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, INCLUDED
Number Sign 603830 LONG QT SYNDROME 3; LQT3 LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;; LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;; LONG QT SYNDROME 3/6, DIGENIC, INCLUDED; LQT3/6, DIGENIC, INCLUDED
Asterisk 603831 PDZ DOMAIN-CONTAINING 1; PDZK1 PDZD1;; C-TERMINAL LINKING AND MODULATING PROTEIN; CLAMP;; CFTR-ASSOCIATED PROTEIN, 70-KD; CAP70
Asterisk 603832 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 3; NDUFA3
Asterisk 603833 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 4; NDUFA4 MLRQ
Asterisk 603834 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 9; NDUFA9
Asterisk 603835 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 10; NDUFA10
Asterisk 603836 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA/BETA SUBCOMPLEX, 1; NDUFAB1 ACYL CARRIER PROTEIN, MITOCHONDRIAL; ACP
Asterisk 603837 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 1; NDUFB1
Asterisk 603838 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 2; NDUFB2
Asterisk 603839 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 3; NDUFB3
Asterisk 603840 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 4; NDUFB4
Asterisk 603841 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 5; NDUFB5
Asterisk 603842 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 7; NDUFB7 SQM1
Asterisk 603843 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 10; NDUFB10
Asterisk 603844 NADH-UBIQUINONE OXIDOREDUCTASE 1, SUBUNIT C1; NDUFC1
Asterisk 603845 NADH-UBIQUINONE OXIDOREDUCTASE 1, SUBUNIT C2; NDUFC2
Asterisk 603846 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3; NDUFS3 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 30-KD SUBUNIT
Asterisk 603847 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 5; NDUFS5 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 15-KD SUBUNIT
Asterisk 603848 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 6; NDUFS6 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 13-KD SUBUNIT
Asterisk 603849 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 1; NR2E1 TAILLESS, DROSOPHILA, HOMOLOG OF; TLX
Asterisk 603850 DYNAMIN 1-LIKE; DNM1L DYNAMIN-LIKE PROTEIN 1; DLP1;; DYNAMIN-RELATED PROTEIN 1; DRP1;; S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP;; DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE
Asterisk 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B PAIRED MESODERM HOMEOBOX 2B; PMX2B;; NEUROBLASTOMA PAIRED-TYPE HOMEOBOX GENE; NBPHOX
Asterisk 603852 TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT CANDIDATE GENE 4; TSSC4 TUMOR-SUPPRESSING STF cDNA 4
Asterisk 603853 TETRASPANIN 32; TSPAN32 PAN-HEMATOPOIETIC EXPRESSION GENE; PHEMX;; TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT CANDIDATE GENE 6; TSSC6;; TUMOR-SUPPRESSING STF cDNA 6;; AML1-REGULATED TRANSMEMBRANE PROTEIN 1; ART1
Asterisk 603854 RAN-BINDING PROTEIN 9; RANBP9 RANBPM
Percent 603855 CYSTIC FIBROSIS, MODIFIER OF, 1; CFM1 MECONIUM ILEUS IN CYSTIC FIBROSIS, SUSCEPTIBILITY TO, INCLUDED
Asterisk 603856 MAKORIN 3; MKRN3 ZINC FINGER PROTEIN 127; ZNF127; ZFP127
Asterisk 603857 MKRN3 ANTISENSE RNA; MKRN3AS ZINC FINGER PROTEIN 127, ANTISENSE; ZNF127AS
Caret 603858 MOVED TO 256370
Asterisk 603859 SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13 CITRIN
Number Sign 603860 MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2 MEDULLARY CYSTIC KIDNEY DISEASE 2, AUTOSOMAL DOMINANT; ADMCKD2
Asterisk 603861 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER), MEMBER 15; SLC25A15 ORNITHINE TRANSPORTER, MITOCHONDRIAL, 1; ORNT1
Asterisk 603862 CYCLIN T2; CCNT2
Asterisk 603863 RING FINGER PROTEIN 7; RNF7 REGULATOR OF CULLINS 2; ROC2;; RBX2;; SENSITIVE TO APOPTOSIS GENE; SAG
Asterisk 603864 COPPER CHAPERONE FOR SUPEROXIDE DISMUTASE; CCS
Asterisk 603865 GLUTAMINE:FRUCTOSE-6-PHOSPHATE AMIDOTRANSFERASE 2; GFPT2 GFAT2
Asterisk 603866 PEROXISOME BIOGENESIS FACTOR 11A; PEX11A PEX11-ALPHA
Asterisk 603867 PEROXISOME BIOGENESIS FACTOR 11B; PEX11B PEX11-BETA
Asterisk 603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A RAB27;; RAS-RELATED GENE FROM MEGAKARYOCYTE; RAM
Asterisk 603869 RAS-ASSOCIATED PROTEIN RAB27B; RAB27B
Asterisk 603870 CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 3; CBFA2T3 MTG8-RELATED GENE 2; MTGR2;; MYELOID TRANSLOCATION GENE ON CHROMOSOME 16; MTG16;; ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 4; ZMYND4;; ETO2
Asterisk 603871 BY THE RIBOSOMAL PROTEIN S6 GENE, DROSOPHILA, HOMOLOG-LIKE; BYSL BYSTIN
Asterisk 603872 TROPHININ-ASSOCIATED PROTEIN; TROAP TROPHININ-ASSISTING PROTEIN;; TASTIN
Asterisk 603873 PHOSPHOLIPASE A2-ACTIVATING PROTEIN; PLAA PLAP
Asterisk 603874 ANGIOPOIETIN-LIKE 1; ANGPTL1 ANGIOPOIETIN 3, FORMERLY; ANGPT3, FORMERLY; ANG3, FORMERLY
Asterisk 603875 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 8; TNFSF8 CD30 LIGAND; CD30L; CD30LG;; CD153
Asterisk 603876 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 4; ADAMTS4 AGGRECANASE 1
Asterisk 603877 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 3; SLC16A3 MONOCARBOXYLATE TRANSPORTER 4; MCT4
Asterisk 603878 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 4; SLC16A4 MONOCARBOXYLATE TRANSPORTER 5; MCT5
Asterisk 603879 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 5; SLC16A5 MONOCARBOXYLATE TRANSPORTER 6; MCT6
Asterisk 603880 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 6; SLC16A6 MONOCARBOXYLATE TRANSPORTER 7; MCT7
Asterisk 603881 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP I, MEMBER 3; NR1I3 CONSTITUTIVE ANDROSTANE RECEPTOR, BETA;; CAR-BETA;; CAR;; MB67
Asterisk 603882 BCL2-ASSOCIATED ATHANOGENE 2; BAG2
Asterisk 603883 BCL2-ASSOCIATED ATHANOGENE 3; BAG3
Asterisk 603884 BCL2-ASSOCIATED ATHANOGENE 4; BAG4 SILENCER OF DEATH DOMAINS; SODD
Asterisk 603885 BCL2-ASSOCIATED ATHANOGENE 5; BAG5
Asterisk 603886 ARTEMIN; ARTN NEUBLASTIN;; ENOVIN
Asterisk 603887 TIMELESS, DROSOPHILA, HOMOLOG OF; TIMELESS TIM; TIM1
Asterisk 603888 POTASSIUM CHANNEL, VOLTAGE-GATED, DELAYED-RECTIFIER, SUBFAMILY S, MEMBER 3; KCNS3 VOLTAGE-GATED POTASSIUM CHANNEL 9.3; KV9.3
Asterisk 603889 SIGNAL REGULATORY PROTEIN, BETA-1; SIRPB1
Asterisk 603890 UBIQUITIN-CONJUGATING ENZYME E2L 6; UBE2L6 UBIQUITIN-CONJUGATING ENZYME UBCH8; UBCH8
Asterisk 603891 FIBROBLAST GROWTH FACTOR 19; FGF19
Asterisk 603892 ELONGATION FACTOR Tu GTP-BINDING DOMAIN-CONTAINING 2; EFTUD2 U5 snRNP-SPECIFIC PROTEIN, 116-KD;; U5-116KD;; KIAA0031
Asterisk 603893 TRAF FAMILY MEMBER-ASSOCIATED NF-KAPPA-B ACTIVATOR; TANK TRAF-INTERACTING PROTEIN; ITRAF
Asterisk 603894 REGULATOR OF G PROTEIN SIGNALING 6; RGS6
Asterisk 603895 REGULATOR OF G PROTEIN SIGNALING 11; RGS11
Number Sign 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION; CACH;; VANISHING WHITE MATTER LEUKODYSTROPHY;; CREE LEUKOENCEPHALOPATHY; CLE VANISHING WHITE MATTER LEUKODYSTROPHY WITH OVARIAN FAILURE, INCLUDED;; OVARIOLEUKODYSTROPHY, INCLUDED
Asterisk 603897 MATRILIN 4; MATN4
Asterisk 603898 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 18; TNFSF18 AITR LIGAND; AITRL;; GITR LIGAND; GITRL
Asterisk 603899 ZINC FINGER PROTEIN 85; ZNF85
Asterisk 603900 ZINC FINGER PROTEIN 174; ZNF174
Asterisk 603901 ZPR1 ZINC FINGER; ZPR1 ZINC FINGER PROTEIN 259; ZNF259
Number Sign 603902 BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE
Number Sign 603903 SICKLE CELL ANEMIA
Asterisk 603904 INTEGRAL MEMBRANE PROTEIN 2B; ITM2B BRI;; BRI2
Asterisk 603905 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 18; TNFRSF18 ACTIVATION-INDUCIBLE TNFR FAMILY MEMBER; AITR;; GLUCOCORTICOID-INDUCED TNFR-RELATED GENE; GITR
Asterisk 603906 CHLORIDE CHANNEL ACCESSORY 1; CLCA1 CHLORIDE CHANNEL, CALCIUM-ACTIVATED, 1;; CALCIUM-ACTIVATED CHLORIDE CHANNEL 1; CACC1;; GOB5
Asterisk 603907 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 1; EIF2S1 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA;; EIF2-ALPHA
Asterisk 603908 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 2; EIF2S2 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-BETA
Number Sign 603909 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II; ALPS2
Asterisk 603910 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT J; EIF3J EIF3-p35;; EIF3-ALPHA;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 1, FORMERLY; EIF3S1, FORMERLY
Asterisk 603911 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT I; EIF3I TGF-BETA RECEPTOR-INTERACTING PROTEIN 1; TRIP1;; EIF3-p36;; EIF3-BETA;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 2, FORMERLY; EIF3S2, FORMERLY
Asterisk 603912 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT H; EIF3H EIF3-p40;; EIF3-GAMMA;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 3, FORMERLY; EIF3S3, FORMERLY
Asterisk 603913 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT G; EIF3G EIF3-p42;; EIF3-p44;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 4, FORMERLY; EIF3S4, FORMERLY
Asterisk 603914 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT F; EIF3F EIF3-p47;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 5, FORMERLY; EIF3S5, FORMERLY
Asterisk 603915 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT D; EIF3D EIF3-p66;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 7, FORMERLY; EIF3S7, FORMERLY
Asterisk 603916 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT C; EIF3C EIF3-p110;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 8, FORMERLY; EIF3S8, FORMERLY
Asterisk 603917 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT B; EIF3B PROTEIN SYNTHESIS DEFECTIVE AT 36 DEGREES CELSIUS 1, S. CEREVISIAE, HOMOLOG OF; PRT1;; EIF3-p116;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 9, FORMERLY; EIF3S9, FORMERLY
Percent 603918 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1 HYT1
Asterisk 603919 SERINE/THREONINE PROTEIN KINASE 10; STK10 LOK;; POLO-LIKE KINASE KINASE 1, XENOPUS, HOMOLOG OF; PLKK1;; AT1-46, RAT, HOMOLOG OF
Asterisk 603920 CRYSTALLIN, ZETA-LIKE 1; CRYZL1 QUINONE OXIDOREDUCTASE-LIKE 1
Asterisk 603921 SUCCINATE-CoA LIGASE, ADP-FORMING, BETA SUBUNIT; SUCLA2 ATP-SPECIFIC SUCCINYL-CoA SYNTHETASE, BETA SUBUNIT;; A-BETA
Asterisk 603922 SUCCINATE-CoA LIGASE, GDP-FORMING, BETA SUBUNIT; SUCLG2 GTP-SPECIFIC SUCCINYL-CoA SYNTHETASE, BETA SUBUNIT;; G-BETA
Caret 603923 MOVED TO 139260
Asterisk 603924 HYALURONAN-BINDING PROTEIN 2; HABP2 HYALURONIC ACID-BINDING PROTEIN 2; HABP2;; HYALURONAN-BINDING PROTEIN, PLASMA; PHBP;; HEPATOCYTE GROWTH FACTOR ACTIVATOR-LIKE; HGFAL;; FACTOR VII-ACTIVATING PROTEASE; FSAP
Asterisk 603925 SYNAPTOGYRIN 1; SYNGR1
Asterisk 603926 SYNAPTOGYRIN 2; SYNGR2 CELLUGYRIN
Asterisk 603927 SYNAPTOGYRIN 3; SYNGR3
Asterisk 603928 EUKARYOTIC TRANSLATION INITIATION FACTOR 4B; EIF4B
Asterisk 603929 EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 3; EIF4G3 EIF4GII
Asterisk 603930 GEPHYRIN; GPHN GPH; GEPH;; KIAA1385 MLL/GPHN FUSION GENE, INCLUDED
Asterisk 603931 ATPase, H+ TRANSPORTING, LYSOSOMAL, 9-KD, V0 SUBUNIT E1; ATP6V0E1 ATP6V0E;; ATPase, H+ TRANSPORTING, LYSOSOMAL, SUBUNIT H; ATP6H
Number Sign 603932 INTERVERTEBRAL DISC DISEASE; IDD LUMBAR DISC DISEASE, INCLUDED; LDD, INCLUDED;; LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO, INCLUDED;; LUMBAR DISC DEGENERATION, SUSCEPTIBILITY TO, INCLUDED
Number Sign 603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1 PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO;; NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, INCLUDED;; MICROVASCULAR COMPLICATIONS OF DIABETES, PROTECTION AGAINST, INCLUDED;; NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED;; END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO, INCLUDED;; PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED;; NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED;; NEUROPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED
Asterisk 603934 COACTIVATOR-ASSOCIATED ARGININE METHYLTRANSFERASE 1; CARM1 PROTEIN ARGININE N-METHYLTRANSFERASE 4; PRMT4
Percent 603935 PSORIASIS 4, SUSCEPTIBILITY TO; PSORS4
Asterisk 603936 GROWTH/DIFFERENTIATION FACTOR 11; GDF11 BONE MORPHOGENETIC PROTEIN 11; BMP11
Asterisk 603937 RP1 GENE; RP1 OXYGEN-REGULATED PHOTORECEPTOR PROTEIN 1; ORP1
Caret 603938 MOVED TO 300205
Asterisk 603939 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 6; KCNK6 POTASSIUM CHANNEL, WEAKLY INWARD-RECTIFYING, WITH TWIN P DOMAINS, 2; TWIK2;; TWIK-ORIGINATED SIMILARITY SEQUENCE; TOSS
Asterisk 603940 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 7; KCNK7
Asterisk 603941 SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2 THIAMINE TRANSPORTER PROTEIN 1; THTR1; THT1
Asterisk 603942 GLYCOGENIN 1; GYG1
Asterisk 603943 CYSTEINE DIOXYGENASE; CDO CYSTEINE DIOXYGENASE, TYPE I; CDO1;; L-CYSTEINE: OXYGEN OXIDOREDUCTASE
Asterisk 603944 SYNTAXIN 6; STX6
Asterisk 603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, EPSILON;; EIF2B-EPSILON
Asterisk 603946 HELICASE, LYMPHOID-SPECIFIC; HELLS LSH;; SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 6; SMARCA6;; PROLIFERATION-ASSOCIATED SNF2-LIKE GENE; PASG
Asterisk 603947 METASTASIS-ASSOCIATED PROTEIN 2; MTA2 METASTASIS-ASSOCIATED 1-LIKE 1; MTA1L1;; PID
Asterisk 603948 NUCLEOPORIN, 153-KD; NUP153
Asterisk 603949 RAB7-LIKE 1; RAB7L1
Asterisk 603950 N-DEACETYLASE/N-SULFOTRANSFERASE 3; NDST3 HEPARAN GLUCOSAMINYL N-DEACETYLASE/N-SULFOTRANSFERASE 3;; HEPARAN SULFATE N-DEACETYLASE/N-SULFOTRANSFERASE 3;; GlcNAc N-DEACETYLASE/N-SULFOTRANSFERASE, HEPARAN SULFATE/HEPARIN, 3
Asterisk 603951 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 1; KCNMB1 SLO-BETA
Asterisk 603952 DEVELOPMENTALLY REGULATED GTP-BINDING PROTEIN 1; DRG1 DEVELOPMENTALLY REGULATED GTP-BINDING PROTEIN; DRG;; NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 3; NEDD3
Asterisk 603953 POTASSIUM INWARDLY-RECTIFYING CHANNEL, SUBFAMILY J, MEMBER 14; KCNJ14 KIR2.4
Asterisk 603954 ZESTE-WHITE 10, DROSOPHILA, HOMOLOG OF; ZW10
Asterisk 603955 FLAVIN-CONTAINING MONOOXYGENASE 2; FMO2 FMO, PULMONARY
Number Sign 603956 CERVICAL CANCER
Asterisk 603957 FLAVIN-CONTAINING MONOOXYGENASE 5; FMO5
Asterisk 603958 REGULATORY FACTOR X, 4; RFX4
Asterisk 603959 CLAUDIN 16; CLDN16 PARACELLIN 1; PCLN1
Asterisk 603960 CALICIN; CCIN
Asterisk 603961 SEMAPHORIN 3A; SEMA3A SEMAPHORIN III;; SEMAPHORIN D; SEMAD;; COLLAPSIN 1; COLL1
Asterisk 603962 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 1; RASGRP1
Asterisk 603963 INTEGRIN, ALPHA-9; ITGA9 ALPHA RELATED TO THE DEVELOPMENT OF LUNG CANCER;; ALPHA-RLC
Percent 603964 DEAFNESS, AUTOSOMAL DOMINANT 16; DFNA16
Number Sign 603965 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 2
Asterisk 603966 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C3; AKR1C3 ALDO-KETO REDUCTASE B; HAKRB;; DIHYDRODIOL DEHYDROGENASE 3; DD3;; 3-ALPHA-HYDROXYSTEROID DEHYDROGENASE, TYPE II;; 17-BETA-HYDROXYSTEROID DEHYDROGENASE V; HSD17B5
Asterisk 603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A NAV1.4
Asterisk 603968 POLYMERASE, DNA, ETA; POLH RAD30, S. CEREVISIAE, HOMOLOG OF, A; RAD30A
Asterisk 603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B B-LYMPHOCYTE STIMULATOR; BLYS;; B CELL-ACTIVATING FACTOR; BAFF;; TNF- AND APOL-RELATED LEUKOCYTE EXPRESSED LIGAND 1; TALL1;; TNF HOMOLOG THAT ACTIVATES APOPTOSIS, NKFB, AND JNK; THANK
Asterisk 603970 PARANEOPLASTIC MA ANTIGEN 2; PNMA2 PARANEOPLASTIC ANTIGEN MA2; MA2;; ONCONEURONAL ANTIGEN MA2;; MM2
Asterisk 603971 ZINC FINGER PROTEIN 91; ZNF91
Asterisk 603972 ZINC FINGER PROTEIN 43; ZNF43
Asterisk 603973 ZINC FINGER PROTEIN 90; ZNF90
Asterisk 603974 ZINC FINGER PROTEIN 92; ZNF92
Asterisk 603975 ZINC FINGER PROTEIN 93; ZNF93
Asterisk 603976 ZINC FINGER PROTEIN 94; ZNF94
Asterisk 603977 ZINC FINGER PROTEIN 208; ZNF208 ZINC FINGER PROTEIN 95; ZNF95
Asterisk 603978 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 12; ZSCAN12 ZINC FINGER PROTEIN 96; ZFP96; ZNF96;; KIAA0426
Asterisk 603979 ZINC FINGER PROTEIN 97; ZNF97
Asterisk 603980 ZINC FINGER PROTEIN 98; ZNF98
Asterisk 603981 ZINC FINGER PROTEIN 99; ZNF99
Asterisk 603982 ZINC FINGER PROTEIN 100; ZNF100
Asterisk 603983 ZINC FINGER PROTEIN 101; ZNF101
Asterisk 603984 ZINC FINGER PROTEIN 737; ZNF737 ZINC FINGER PROTEIN 102; ZNF102
Asterisk 603985 ZINC FINGER PROTEIN 103; ZNF103
Caret 603986 REMOVED FROM DATABASE
Asterisk 603987 ZINC FINGER PROTEIN 105; ZNF105
Asterisk 603988 ZINC FINGER PROTEIN 106; ZNF106
Asterisk 603989 ZINC FINGER PROTEIN 107; ZNF107 ZFD25;; ZINC FINGER PROTEIN 588, FORMERLY; ZNF588, FORMERLY
Caret 603990 REMOVED FROM DATABASE
Asterisk 603991 ZINC FINGER PROTEIN 109; ZNF109
Asterisk 603992 ZINC FINGER PROTEIN 110; ZNF110
Asterisk 603993 ZINC FINGER PROTEIN 111; ZNF111
Asterisk 603994 ZINC FINGER PROTEIN 112; ZNF112
Asterisk 603995 ZINC FINGER PROTEIN 113; ZNF113
Asterisk 603996 ZINC FINGER PROTEIN 114; ZNF114
Asterisk 603997 ZINC FINGER PROTEIN 118; ZNF118
Asterisk 603998 ZINC FINGER PROTEIN 119; ZNF119
Asterisk 603999 ZINC FINGER PROTEIN 120; ZNF120
Asterisk 604000 ZINC FINGER PROTEIN 122; ZNF122
Asterisk 604001 A-KINASE ANCHOR PROTEIN 9; AKAP9 YOTIAO;; A-KINASE ANCHOR PROTEIN, 450-KD; AKAP450;; CENTROSOME- AND GOLGI-LOCALIZED PROTEIN KINASE N-ASSOCIATED PROTEIN; CGNAP AKAP9/BRAF FUSION GENE, INCLUDED
Asterisk 604002 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 2; ROCK2
Asterisk 604003 CHLORIDE CHANNEL ACCESSORY 2; CLCA2 CHLORIDE CHANNEL, CALCIUM-ACTIVATED, 2;; CALCIUM-ACTIVATED CHLORIDE CHANNEL 3; CACC3
Number Sign 604004 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1 VACUOLATING MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS;; LVM;; VL;; LEUKOENCEPHALOPATHY WITH SWELLING AND CYSTS;; VAN DER KNAAP DISEASE
Caret 604005 MOVED TO 157640
Caret 604006 REMOVED FROM DATABASE
Caret 604007 REMOVED FROM DATABASE
Asterisk 604008 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-2; PTPRZ2
Asterisk 604009 BAI1-ASSOCIATED PROTEIN 3; BAIAP3 BAP3
Asterisk 604010 PARANEOPLASTIC MA ANTIGEN 1; PNMA1 PARANEOPLASTIC ANTIGEN MA1; MA1;; NEURON- AND TESTIS-SPECIFIC PROTEIN 1
Plus 604011 UNC119, C. ELEGANS, HOMOLOG OF; UNC119 HUMAN RETINAL GENE 4; HRG4 CONE-ROD DYSTROPHY, INCLUDED
Asterisk 604012 RNA, U20 SMALL NUCLEOLAR; RNU20 snoRNA, U20
Asterisk 604013 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 2; B4GALT2 BETA-1,4-GALACTOSYLTRANSFERASE 2;; BETA-4-GALT2
Asterisk 604014 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 3; B4GALT3 BETA-1,4-GALACTOSYLTRANSFERASE 3;; BETA-4-GALT3
Asterisk 604015 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 4; B4GALT4 BETA-1,4-GALACTOSYLTRANSFERASE 4
Asterisk 604016 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 5; B4GALT5 BETA-1,4-GALACTOSYLTRANSFERASE 5
Asterisk 604017 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 6; B4GALT6 BETA-1,4-GALACTOSYLTRANSFERASE 6
Asterisk 604018 NUMB, DROSOPHILA, HOMOLOG-LIKE; NUMBL NUMB-RELATED GENE; NUMBR;; NUMBLIKE; NBL;; TRINUCLEOTIDE REPEAT-CONTAINING GENE 23; TNRC23
Asterisk 604019 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN WITH FG REPEATS 2; AGFG2 ARFGAP WITH FG REPEATS 2;; HIV-1 REV-BINDING PROTEIN-LIKE; HRBL;; REV/REX ACTIVATION DOMAIN-BINDING PROTEIN-RELATED; RABR
Asterisk 604020 BASSOON, MOUSE, HOMOLOG OF; BSN ZINC FINGER PROTEIN 231; ZNF231
Caret 604021 MOVED TO 162662
Caret 604022 MOVED TO 162662
Caret 604023 MOVED TO 162662
Asterisk 604024 SOLUTE CARRIER FAMILY 5 (SODIUM-DEPENDENT VITAMIN TRANSPORTER), MEMBER 6; SLC5A6 SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER; SMVT
Asterisk 604025 AXIS INHIBITOR 2; AXIN2 CONDUCTIN, MOUSE, HOMOLOG OF
Asterisk 604026 GOLGI SNAP RECEPTOR COMPLEX MEMBER 1; GOSR1 GOS28;; GOLGI SNARE, 28-KD; GS28
Asterisk 604027 GOLGI SNAP RECEPTOR COMPLEX MEMBER 2; GOSR2 GOLGI SNARE, 27-KD; GS27;; MEMBRIN
Asterisk 604028 SECRETION DEFICIENT 22, S. CEREVISIAE, HOMOLOG OF, C; SEC22C
Asterisk 604029 SECRETION DEFICIENT 22, S. CEREVISIAE, HOMOLOG-LIKE 1; SEC22L1 SEC22B
Asterisk 604030 PROTEASOME SUBUNIT, BETA-TYPE, 7; PSMB7 PROTEASOME SUBUNIT Z;; PROTEASOME SUBUNIT BETA-2
Asterisk 604031 STEAROYL-CoA DESATURASE; SCD SCD1;; DELTA-9-DESATURASE
Asterisk 604032 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3; EIF2AK3 PANCREATIC EIF2-ALPHA KINASE; PEK;; PERK
Asterisk 604033 ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 1; ERN1 INOSITOL-REQUIRING ENZYME 1, S. CEREVISIAE, HOMOLOG OF; IRE1;; IRE1-ALPHA; IRE1A
Asterisk 604034 ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 2; ERN2 INOSITOL-REQUIRING ENZYME 1, S. CEREVISIAE, HOMOLOG OF, BETA; IRE1B;; IRE1-BETA
Asterisk 604035 CYLICIN 2; CYLC2
Asterisk 604036 CYCLIN A1; CCNA1
Asterisk 604037 RAS-ASSOCIATED PROTEIN RAB5C; RAB5C RAB-LIKE, FORMERLY; RABL, FORMERLY
Asterisk 604038 HYALURONOGLUCOSAMINIDASE 3; HYAL3 HYALURONIDASE 3;; LUCA3
Asterisk 604039 MENINGIOMA-EXPRESSED ANTIGEN 5; MGEA5 O-LINKED N-ACETYLGLUCOSAMINASE; OGA;; O-GlcNAcase;; NUCLEAR CYTOPLASMIC O-GlcNAcase AND ACETYLTRANSFERASE; NCOAT
Asterisk 604040 RAD50, S. CEREVISIAE, HOMOLOG OF; RAD50
Asterisk 604041 MANNOSE-P-DOLICHOL UTILIZATION DEFECT 1; MPDU1 SUPPRESSOR OF LEC15; SL15;; LEC35
Asterisk 604042 INTEGRIN, ALPHA-10; ITGA10
Asterisk 604043 NEVER IN MITOSIS GENE A-RELATED KINASE 2; NEK2 NIMA-RELATED KINASE 2
Asterisk 604044 NEVER IN MITOSIS GENE A-RELATED KINASE 3; NEK3 NIMA-RELATED KINASE 3
Asterisk 604045 PROTEIN ARGININE METHYLTRANSFERASE 5; PRMT5 SHK1 KINASE-BINDING PROTEIN 1, S. POMBE, HOMOLOG OF; SKB1;; ICLN-BINDING PROTEIN, 72-KD; IBP72;; JAK-BINDING PROTEIN 1; JBP1;; HISTONE SYNTHETIC LETHAL 7, S. CEREVISIAE, HOMOLOG OF; HSL7
Asterisk 604046 OXIDATIVE STRESS-RESPONSIVE 1; OXSR1 OSR1
Asterisk 604047 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/URATE TRANSPORTER), MEMBER 13; SLC22A13 ORGANIC-CATION TRANSPORTER-LIKE 3; ORCTL3;; OCTL1
Asterisk 604048 SOLUTE CARRIER FAMILY 22, MEMBER 14; SLC22A14 ORGANIC-CATION TRANSPORTER-LIKE 4; ORCTL4;; OCTL2
Asterisk 604049 XYLULOKINASE, H. INFLUENZAE, HOMOLOG OF; XYLB
Asterisk 604050 DELETED IN LUNG AND ESOPHAGEAL CANCER 1; DLEC1 DLC1
Asterisk 604051 ENDO/EXONUCLEASE, ENDOG-LIKE; EXOG ENDONUCLEASE G-LIKE 1; ENDOGL1;; ENGL
Asterisk 604052 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 15; TNFSF15 TNF15;; TNF LIGAND-RELATED MOLECULE 1; TL1;; VASCULAR ENDOTHELIAL GROWTH INHIBITOR; VEGI
Asterisk 604053 3-PRIME(2-PRIME),5-PRIME-BISPHOSPHATE NUCLEOTIDASE 1; BPNT1 BISPHOSPHATE 3-PRIME-NUCLEOTIDASE
Asterisk 604054 ACETYL-CoA ACYLTRANSFERASE 1; ACAA1 ACETYL-CoA ACYLTRANSFERASE; ACAA;; PEROXISOMAL 3-OXOACYL-CoA THIOLASE; PTHIO; THIO;; 3-OXOACYL-CoA THIOLASE, PEROXISOMAL;; 3-KETOACYL-CoA THIOLASE, PEROXISOMAL; PTL
Asterisk 604055 ISOPENTENYL-DIPHOSPHATE DELTA ISOMERASE 1; IDI1 ISOPENTENYL DIPHOSPHATE:DIMETHYLALLYL DIPHOSPHATE ISOMERASE;; IPP ISOMERASE
Asterisk 604056 HEPARAN SULFATE (GLUCOSAMINE) 3-O-SULFOTRANSFERASE 2; HS3ST2 HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 2;; 3OST2
Asterisk 604057 HEPARAN SULFATE (GLUCOSAMINE) 3-O-SULFOTRANSFERASE 3A1; HS3ST3A1 HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 3A1;; 3OST3A1
Asterisk 604058 HEPARAN SULFATE (GLUCOSAMINE) 3-O-SULFOTRANSFERASE 3B1; HS3ST3B1 HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 3B1;; 3OST3B1
Asterisk 604059 HEPARAN SULFATE (GLUCOSAMINE) 3-O-SULFOTRANSFERASE 4; HS3ST4 HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 4;; 3OST4
Percent 604060 DEAFNESS, AUTOSOMAL RECESSIVE 20; DFNB20
Asterisk 604061 SEPTIN 9; SEPT9 MLL SEPTIN-LIKE FUSION GENE; MSF;; MSF1;; PEANUT-LIKE 4; PNUTL4;; SINT1;; KIAA0991
Asterisk 604062 MEDIATOR COMPLEX SUBUNIT 16; MED16 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 5; THRAP5;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 95-KD; TRAP95;; VITAMIN D RECEPTOR-INTERACTING PROTEIN, 92-KD; DRIP92
Asterisk 604063 INTEGRIN, ALPHA-8; ITGA8
Asterisk 604064 ACTIVATING TRANSCRIPTION FACTOR 4; ATF4 CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN 2; CREB2;; TAX-RESPONSIVE ENHANCER ELEMENT B67; TAXREB67
Asterisk 604065 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1G SUBUNIT; CACNA1G
Asterisk 604066 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 5; B3GALT5 BETA-3-GALACTOSYLTRANSFERASE 5;; BETA-3-GALT5
Asterisk 604067 REGULATOR OF G PROTEIN SIGNALING 9; RGS9
Asterisk 604068 TUMOR PROTEIN D52; TPD52 D52
Asterisk 604069 TUMOR PROTEIN D52-LIKE 1; TPD52L1 D53
Asterisk 604070 DIACYLGLYCEROL KINASE, BETA, 90-KD; DGKB DGK-BETA;; DGK, 90-KD;; KIAA0718
Asterisk 604071 DIACYLGLYCEROL KINASE, ETA, 130-KD; DGKH DGK-ETA
Asterisk 604072 DIACYLGLYCEROL KINASE, IOTA, 130-KD; DGKI DGK-IOTA
Asterisk 604073 ZINC FINGER PROTEIN 131; ZNF131
Asterisk 604074 ZINC FINGER PROTEIN 132; ZNF132
Asterisk 604075 ZINC FINGER PROTEIN 133; ZNF133
Asterisk 604076 ZINC FINGER PROTEIN 134; ZNF134
Asterisk 604077 ZINC FINGER PROTEIN 135; ZNF135
Asterisk 604078 ZINC FINGER PROTEIN 136; ZNF136
Asterisk 604079 ZINC FINGER PROTEIN 137; ZNF137
Asterisk 604080 ZINC FINGER PROTEIN 138; ZNF138
Caret 604081 MOVED TO 601260
Asterisk 604082 ZINC FINGER PROTEIN 140; ZNF140
Asterisk 604083 ZINC FINGER PROTEIN 142; ZNF142
Asterisk 604084 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 17; ZBTB17 ZINC FINGER PROTEIN 151; ZNF151;; MYC-INTERACTING ZINC FINGER PROTEIN 1; MIZ1
Asterisk 604085 ZINC FINGER PROTEIN 154; ZNF154
Asterisk 604086 ZINC FINGER PROTEIN 155; ZNF155
Asterisk 604087 CYTOCHROME P450, FAMILY 46, SUBFAMILY A, POLYPEPTIDE 1; CYP46A1 CYTOCHROME P450, SUBFAMILY 46; CYP46;; CHOLESTEROL 24-HYDROXYLASE
Asterisk 604088 PROTEIN PHOSPHATASE 1 REGULATORY SUBUNIT 17; PP1R17 G-SUBSTRATE; GSBS;; CHROMOSOME 7 OPEN READING FRAME 16; C7ORF16
Asterisk 604089 HEMATOPOIETIC CELL SIGNAL TRANSDUCER; HCST DNAX-ACTIVATION PROTEIN 10; DAP10
Asterisk 604090 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 5; DLG5 PLACENTA AND PROSTATE DLG; PDLG;; KIAA0583
Number Sign 604091 HYPOALPHALIPOPROTEINEMIA, PRIMARY HYPOALPHALIPOPROTEINEMIA, FAMILIAL; FHA;; HIGH DENSITY LIPOPROTEIN DEFICIENCY; HDLD;; FAMILIAL HDL DEFICIENCY; FHD;; HDL CHOLESTEROL, LOW SERUM; HDLC
Asterisk 604092 TTK PROTEIN KINASE; TTK MONOPOLAR SPINDLE 1-LIKE 1; MPS1L1;; MPS1, YEAST, HOMOLOG OF; MPS1;; PHOSPHOTYROSINE-PICKED THREONINE KINASE; PYT;; ESK, MOUSE, HOMOLOG OF; ESK
Number Sign 604093 KERATOSIS PILARIS ATROPHICANS; KPA
Asterisk 604094 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 2; MAD2L2 MAD2B;; REV7, S. CEREVISIAE, HOMOLOG OF; REV7
Asterisk 604095 ECTODYSPLASIN A RECEPTOR; EDAR ECTODYSPLASIN 1, ANHIDROTIC RECEPTOR;; DOWNLESS, MOUSE, HOMOLOG OF; DL;; ECTODYSPLASIN A1 ISOFORM RECEPTOR;; EDA-A1 RECEPTOR;; EDA-A1R;; EDA1R
Asterisk 604096 GLUTAMATE RECEPTOR, METABOTROPIC, 6; GRM6 MGLUR6
Asterisk 604097 UROTENSIN II; UTS2
Asterisk 604098 SUPPRESSOR OF G2 ALLELE OF SKP1, S. CEREVISIAE, HOMOLOG OF; SUGT1 SGT1
Asterisk 604099 GLUTAMATE RECEPTOR, METABOTROPIC, 2; GRM2 MGLUR2
Asterisk 604100 GLUTAMATE RECEPTOR, METABOTROPIC, 4; GRM4 MGLUR4
Asterisk 604101 GLUTAMATE RECEPTOR, METABOTROPIC, 7; GRM7 MGLUR7
Asterisk 604102 GLUTAMATE RECEPTOR, METABOTROPIC, 5; GRM5 MGLUR5
Asterisk 604103 MYOTILIN; MYOT MYO;; TITIN IMMUNOGLOBULIN DOMAIN PROTEIN; TTID
Asterisk 604104 GLIA MATURATION FACTOR, GAMMA; GMFG GMF-GAMMA
Asterisk 604105 SYNAPTONEMAL COMPLEX PROTEIN 2; SYCP2 SCP2
Asterisk 604106 G PROTEIN-COUPLED RECEPTOR 52; GPR52
Asterisk 604107 G PROTEIN-COUPLED RECEPTOR 55; GPR55
Asterisk 604108 MICROTUBULE-ASSOCIATED PROTEIN 7; MAP7 MICROTUBULE-ASSOCIATED PROTEIN, EPITHELIAL, 115-KD; EMAP115;; ENSCONSIN, DROSOPHILA, HOMOLOG OF; ENS
Asterisk 604109 HUMAN ENDOGENOUS RETROVIRUS-H LONG TERMINAL REPEAT-ASSOCIATING 1; HHLA1 HERV-H LTR-ASSOCIATING 1
Asterisk 604110 ADHESION G PROTEIN-COUPLED RECEPTOR G1; ADGRG1 G PROTEIN-COUPLED RECEPTOR 56; GPR56;; 7-TRANSMEMBRANE PROTEIN WITH NO EGF-LIKE N-TERMINAL DOMAINS 1; TM7XN1
Asterisk 604111 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER 3; KCNAB3 KCNA3B;; KV-BETA-3
Asterisk 604112 SCIELLIN; SCEL
Asterisk 604113 INTERLEUKIN 18-BINDING PROTEIN; IL18BP IL18BPa IL18BPb, INCLUDED;; IL18BPc, INCLUDED
Asterisk 604114 PHOSPHOLIPASE C, BETA-2; PLCB2
Asterisk 604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1 LONG QT INTRONIC TRANSCRIPT 1; LIT1
Number Sign 604116 CONE-ROD DYSTROPHY 3; CORD3
Number Sign 604117 VOHWINKEL SYNDROME, VARIANT FORM VOHWINKEL SYNDROME WITH ICHTHYOSIS;; MUTILATING KERATODERMA WITH ICHTHYOSIS;; LORICRIN KERATODERMA
Asterisk 604118 RAS PROTEIN ACTIVATOR-LIKE 1; RASAL1 RAS-GTPase-ACTIVATING PROTEIN-LIKE; RASAL;; RASGAP1-LIKE
Asterisk 604119 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 4; SLC12A4 POTASSIUM-CHLORIDE COTRANSPORTER 1; KCC1
Caret 604120 MOVED TO 600894
Number Sign 604121 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN
Asterisk 604122 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS B PROTEIN; PIGB
Asterisk 604123 RIBONUCLEASE H1; RNASEH1 H1RNA
Asterisk 604124 RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8 RETINOBLASTOMA-INTERACTING AND MYOSIN-LIKE; RIM;; CTBP-INTERACTING PROTEIN; CTIP
Asterisk 604125 SULFOTRANSFERASE FAMILY 2B, MEMBER 1; SULT2B1
Asterisk 604126 SUPERVILLIN; SVIL
Asterisk 604127 T-BOX 15; TBX15
Asterisk 604128 TRANSCRIPTION ELONGATION FACTOR A, 3; TCEA3
Number Sign 604129 EPIDERMOLYSIS BULLOSA PRURIGINOSA DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA;; DEB, PRURIGINOSA
Asterisk 604130 UNDIFFERENTIATED EMBRYONIC CELL TRANSCRIPTION FACTOR 1; UTF1
Number Sign 604131 ALPHA-THALASSEMIA
Caret 604132 MOVED TO 300601
Caret 604133 MOVED TO 300288
Asterisk 604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 13; ADAMTS13 VON WILLEBRAND FACTOR-CLEAVING PROTEASE; VWFCP
Asterisk 604135 NUCLEAR FACTOR ERYTHROID 2-LIKE 3; NFE2L3 NFE2-RELATED FACTOR 3; NRF3
Asterisk 604136 INTERLEUKIN 24; IL24 SUPPRESSION OF TUMORIGENICITY 16; ST16;; MELANOMA DIFFERENTIATION-ASSOCIATED GENE 7; MDA7
Caret 604137 MOVED TO 192150
Asterisk 604138 G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER A; GPRC5A RETINOIC ACID-INDUCED 3; RAI3;; RETINOIC ACID-INDUCIBLE GENE 1; RAIG1
Asterisk 604139 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 2; DNAJB2 HEAT-SHOCK PROTEIN, DNAJ-LIKE 1; HSJ1;; HEAT-SHOCK 40-KD PROTEIN 3; HSPF3
Asterisk 604140 DEATH INDUCER-OBLITERATOR 1; DIDO1 DEATH-ASSOCIATED TRANSCRIPTION FACTOR 1; DATF1;; DIO1;; KIAA0333
Asterisk 604141 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; ARFGEF1 ADP-RIBOSYLATION FACTOR-GUANINE NUCLEOTIDE EXCHANGE PROTEIN 1; ARFGEP1;; BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE EXCHANGE PROTEIN 1; BIG1;; p200
Asterisk 604142 TYRO PROTEIN TYROSINE KINASE-BINDING PROTEIN; TYROBP DNAX-ACTIVATION PROTEIN 12; DAP12
Asterisk 604143 EXTRA SPINDLE POLES-LIKE 1; ESPL1 ESP1;; SEPARIN;; SEPARASE
Asterisk 604144 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 9; SLC7A9
Number Sign 604145 CARDIOMYOPATHY, DILATED, 1G; CMD1G
Asterisk 604146 SYNAPTOTAGMIN 7; SYT7 PROSTATE CANCER-ASSOCIATED PROTEIN 7; PCANAP7;; IPCA7
Asterisk 604147 PITUITARY TUMOR-TRANSFORMING GENE 1; PTTG1 PTTG;; ESP1-ASSOCIATED PROTEIN 1; EAP1;; TUMOR-TRANSFORMING 1; TUTR1;; SECURIN
Asterisk 604148 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER), MEMBER 2; SLC13A2 SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER 1; NADC1
Asterisk 604149 SARCOGLYCAN, EPSILON; SGCE
Asterisk 604150 POLYMERASE II, RNA, SUBUNIT J; POLR2J RPB11, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 13.3-KD SUBUNIT
Asterisk 604151 UBIQUITIN-CONJUGATING ENZYME E2E 3; UBE2E3 UBIQUITIN-CONJUGATING ENZYME UBCH9; UBCH9;; UBCM2
Asterisk 604152 ORNITHINE DECARBOXYLASE ANTIZYME 2; OAZ2 ANTIZYME 2
Asterisk 604153 NEUROMEDIN U RECEPTOR 1; NMUR1 NMU1R;; G PROTEIN-COUPLED RECEPTOR 66; GPR66;; GROWTH HORMONE SECRETAGOGUE RECEPTOR FAMILY, MEMBER 3; FM3
NULL 604154 ALZHEIMER DISEASE WITHOUT NEUROFIBRILLARY TANGLES
Asterisk 604155 LanC-LIKE 1; LANCL1 LANTHIONINE-SYNTHETASE COMPONENT C-LIKE 1 G PROTEIN-COUPLED RECEPTOR;; G PROTEIN-COUPLED RECEPTOR 69A; GPR69A
Asterisk 604156 SECRETED FRIZZLED-RELATED PROTEIN 1; SFRP1 FRIZZLED-RELATED PROTEIN; FRP;; SECRETED APOPTOSIS-RELATED PROTEIN 2; SARP2
Asterisk 604157 SECRETED FRIZZLED-RELATED PROTEIN 2; SFRP2 SECRETED APOPTOSIS-RELATED PROTEIN 1; SARP1
Asterisk 604158 SECRETED FRIZZLED-RELATED PROTEIN 5; SFRP5 SECRETED APOPTOSIS-RELATED PROTEIN 3; SARP3
Asterisk 604159 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER 5; SLC6A5 GLYCINE TRANSPORTER, TYPE 2; GLYT2
Asterisk 604160 INTEGRIN, BETA-8; ITGB8
Asterisk 604161 KISS1 RECEPTOR; KISS1R G PROTEIN-COUPLED RECEPTOR 54;; GPR54 METASTIN RECEPTOR
Caret 604162 MOVED TO 600816
Asterisk 604163 RIBOSOMAL PROTEIN L3; RPL3
Asterisk 604164 ONE CUT HOMEOBOX 1; ONECUT1 ONE CUT DOMAIN, FAMILY MEMBER 1;; HEPATOCYTE NUCLEAR FACTOR 6-ALPHA; HNF6A;; HEPATOCYTE NUCLEAR FACTOR 6; HNF6
Asterisk 604165 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, OXOGLUTARATE CARRIER), MEMBER 11; SLC25A11 SOLUTE CARRIER FAMILY 20, MEMBER 4, FORMERLY; SLC20A4, FORMERLY;; OXOGLUTARATE CARRIER; OGC;; OXOGLUTARATE/MALATE CARRIER
Asterisk 604166 RIBOSOMAL PROTEIN L7; RPL7
Asterisk 604167 CCCTC-BINDING FACTOR; CTCF TRANSCRIPTIONAL REPRESSOR CTCF
Number Sign 604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN CATARACT, CONGENITAL, WITH FACIAL DYSMORPHISM AND NEUROPATHY
Number Sign 604169 LEFT VENTRICULAR NONCOMPACTION 1; LVNC1 LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS
Asterisk 604170 PHOSPHOLIPID SCRAMBLASE 1; PLSCR1 MM1 CELL-DERIVED TRANSPLANTABILITY-ASSOCIATED GENE 1b, MOUSE, HOMOLOG OF; MMTRA1B
Asterisk 604171 ALY/REF EXPORT FACTOR; ALYREF TRANSCRIPTIONAL COACTIVATOR ALY; ALY;; REF;; bZIP-ENHANCING FACTOR; BEF;; THO COMPLEX, SUBUNIT 4; THOC4
NULL 604172 CARONTE CAR
Number Sign 604173 POIKILODERMA WITH NEUTROPENIA; PN POIKILODERMA WITH NEUTROPENIA, CLERICUZIO-TYPE
Asterisk 604174 RIBOSOMAL PROTEIN L15; RPL15
Asterisk 604175 RIBOSOMAL PROTEIN L11; RPL11
Asterisk 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; SOCS3 STAT-INDUCED STAT INHIBITOR 3; SSI3;; CYTOKINE-INDUCIBLE SH2 PROTEIN 3; CIS3
Asterisk 604177 RIBOSOMAL PROTEIN L8; RPL8
Asterisk 604178 RIBOSOMAL PROTEIN L18A; RPL18A
Asterisk 604179 RIBOSOMAL PROTEIN L18; RPL18
Asterisk 604180 RIBOSOMAL PROTEIN L24; RPL24
Asterisk 604181 RIBOSOMAL PROTEIN L37; RPL37
Asterisk 604182 RIBOSOMAL PROTEIN L38; RPL38
NULL 604183 CHOLESTEATOMA, CONGENITAL
Asterisk 604184 PUTATIVE NEURONAL CELL ADHESION MOLECULE; PUNC
Percent 604185 FACIAL PARESIS, HEREDITARY CONGENITAL, 2; HCFP2 MOEBIUS SYNDROME 3, FORMERLY; MBS3, FORMERLY;; MOBIUS SYNDROME 3, FORMERLY
Asterisk 604186 CHEMOKINE, CXC MOTIF, LIGAND 14; CXCL14 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 14; SCYB14;; BRAK
Number Sign 604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
Asterisk 604188 SELENIUM-BINDING PROTEIN 1; SELENBP1 SELENIUM-BINDING PROTEIN, 56-KD; SP56
Asterisk 604189 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 4; DNAJC4 HEAT-SHOCK 40-KD PROTEIN 2; HSPF2;; MCG18
Asterisk 604190 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4 ORGANIC CATION TRANSPORTER 1; OCTN1
Asterisk 604191 ZINC FINGER PROTEIN 263; ZNF263
Caret 604192 MOVED TO 603247
Asterisk 604193 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 3; SLC27A3 FATTY ACID TRANSPORT PROTEIN 3; FATP3;; ACYL-CoA SYNTHETASE VERY LONG CHAIN FAMILY, MEMBER 3; ACSVL3
Asterisk 604194 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 4; SLC27A4 FATTY ACID TRANSPORT PROTEIN 4; FATP4;; ACYL-CoA SYNTHETASE VERY LONG CHAIN FAMILY, MEMBER 5; ACSVL5
Caret 604195 MOVED TO 603314
Asterisk 604196 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 6; SLC27A6 FATTY ACID TRANSPORT PROTEIN 6; FATP6;; VERY LONG CHAIN ACYL-CoA SYNTHETASE HOMOLOG 1; VLCSH1;; VLCS HOMOLOG 1;; ACYL-CoA SYNTHETASE VERY LONG CHAIN FAMILY, MEMBER 2; ACSVL2
Asterisk 604197 5,10-METHENYLTETRAHYDROFOLATE SYNTHETASE; MTHFS 5-FORMYLTETRAHYDROFOLATE CYCLOLIGASE
Asterisk 604198 RAS-ASSOCIATED PROTEIN RAB11B; RAB11B
Asterisk 604199 RAS-ASSOCIATED PROTEIN RAB35; RAB35
Asterisk 604200 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 5; SIGLEC5 CD33 ANTIGEN-LIKE 2; CD33L2;; OB-BINDING PROTEIN 2; OBBP2
Percent 604201 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION SM2 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA JAPONICUM INFECTION, INCLUDED
Asterisk 604202 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 29-KD; SNAP29
Asterisk 604203 SYNTAXIN 8; STX8
Asterisk 604204 SYNTAXIN 17; STX17
Asterisk 604205 COPINE I; CPNE1 CPN1
Asterisk 604206 COPINE II; CPNE2 CPN2
Asterisk 604207 COPINE III; CPNE3 CPN3
Asterisk 604208 COPINE IV; CPNE4 CPN4
Asterisk 604209 COPINE V; CPNE5 CPN5
Asterisk 604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1
NULL 604211 HIRSCHSPRUNG DISEASE WITH HEART DEFECTS, LARYNGEAL ANOMALIES, AND PREAXIAL POLYDACTYLY
Asterisk 604212 POLYADENYLATE-SPECIFIC RIBONUCLEASE; PARN POLY(A)-SPECIFIC RIBONUCLEASE;; DEADENYLATING NUCLEASE; DAN
Number Sign 604213 CHUDLEY-MCCULLOUGH SYNDROME; CMCS DEAFNESS, SENSORINEURAL, WITH PARTIAL AGENESIS OF THE CORPUS CALLOSUM AND ARACHNOID CYSTS;; DEAFNESS, AUTOSOMAL RECESSIVE 82, FORMERLY; DFNB82, FORMERLY
Asterisk 604214 KREV INTERACTION TRAPPED 1; KRIT1 CCM1 GENE; CCM1
Asterisk 604215 INHIBITOR OF GROWTH 2; ING2 INHIBITOR OF GROWTH 1-LIKE; ING1L;; p33ING2
Asterisk 604216 SOLUTE CARRIER FAMILY 17, MEMBER 4; SLC17A4 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 4
Asterisk 604217 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 2; SLC34A2 NaPi3B
Number Sign 604218 ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB ENCEPHALOPATHY, FAMILIAL, WITH COLLINS BODIES
Number Sign 604219 CATARACT 9, MULTIPLE TYPES; CTRCT9 CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, AUTOSOMAL DOMINANT;; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATC1
Asterisk 604220 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 1A; ARPC1A SOP2-LIKE; SOP2L
Asterisk 604221 ACTIN-RELATED PROTEIN 2; ACTR2 ARP2 ARP2/3 COMPLEX, INCLUDED
Asterisk 604222 ACTIN-RELATED PROTEIN 3; ACTR3 ARP3
Asterisk 604223 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 1B; ARPC1B ACTIN-RELATED PROTEIN 2/3 COMPLEX, 41-KD SUBUNIT; ARC41;; p41-ARC;; p40-ARC
Asterisk 604224 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 2; ARPC2 ACTIN-RELATED PROTEIN 2/3 COMPLEX, 34-KD SUBUNIT; ARC34;; p34-ARC
Asterisk 604225 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 3; ARPC3 ACTIN-RELATED PROTEIN 2/3 COMPLEX, 21-KD SUBUNIT; ARC21;; p21-ARC
Asterisk 604226 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 4; ARPC4 ACTIN-RELATED PROTEIN 2/3 COMPLEX, 20-KD SUBUNIT; ARC20;; p20-ARC
Asterisk 604227 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 5; ARPC5 ACTIN-RELATED PROTEIN 2/3 COMPLEX, 16-KD SUBUNIT; ARC16;; p16-ARC
Caret 604228 MOVED TO 607624
Number Sign 604229 ANTERIOR SEGMENT DYSGENESIS 5; ASGD5
Asterisk 604230 ADENOSINE DEAMINASE, tRNA-SPECIFIC, 1; ADAT1 TAD1, S. CEREVISIAE, HOMOLOG OF; TAD1
Asterisk 604231 PITUITARY TUMOR-TRANSFORMING GENE 2; PTTG2
Number Sign 604232 LEBER CONGENITAL AMAUROSIS 3; LCA3 RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED, INCLUDED
Number Sign 604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1 GEFS+, TYPE 1; GEFS+1
Asterisk 604234 INTEGRIN, BETA-LIKE 1; ITGBL1 TEN BETA-INTEGRIN EGF-LIKE REPEAT DOMAINS; TIED
Asterisk 604235 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 8; SLC7A8 L-TYPE AMINO ACID TRANSPORTER 2; LAT2
Caret 604236 MOVED TO 604233
Asterisk 604237 CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1 CLF1;; NR6
Asterisk 604238 SNAIL, DROSOPHILA, HOMOLOG OF, 1; SNAI1
Asterisk 604239 PHOSPHOSERINE PHOSPHATASE-LIKE; PSPHL CO9
Asterisk 604240 T-CELL LEUKEMIA, HOMEOBOX 2; TLX2 HOMEOBOX 11-LIKE 1; HOX11L1;; TLX2;; NCX;; ENX
Asterisk 604241 CD2-ASSOCIATED PROTEIN; CD2AP CAS LIGAND WITH MULTIPLE SH3 DOMAINS; CMS
Asterisk 604242 RING FINGER PROTEIN 6; RNF6
Caret 604243 MOVED TO 300594
Caret 604244 MOVED TO 300595
Caret 604245 MOVED TO 300596
Caret 604246 MOVED TO 300597
Caret 604247 MOVED TO 300598
Caret 604248 MOVED TO 300599
Asterisk 604249 RETICULON 3; RTN3 NEUROENDOCRINE-SPECIFIC PROTEIN-LIKE 2; NSPL2
Number Sign 604250 HEMOCHROMATOSIS, TYPE 3; HFE3 HEMOCHROMATOSIS DUE TO DEFECT IN TRANSFERRIN RECEPTOR 2
Asterisk 604251 CALCINEURIN-BINDING PROTEIN 1 CABIN1;; CAIN
Asterisk 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1 BETA-SITE APP-CLEAVING ENZYME; BACE;; SECRETASE, BETA;; MEMAPSIN 2
Asterisk 604253 CASEIN KINASE I, GAMMA-3; CSNK1G3
Percent 604254 DYSLEXIA, SUSCEPTIBILITY TO, 3; DYX3
Asterisk 604255 LADY BIRD LATE, DROSOPHILA, HOMOLOG OF, 1 LBX1;; LBX1H
Asterisk 604256 BASIC HELIX-LOOP-HELIX FAMILY, MEMBER E40; BHLHE40 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 2; BHLHB2;; DEC1;; STRA13, MOUSE, HOMOLOG OF;; ENHANCER OF SPLIT- AND HAIRY-RELATED PROTEIN 2, RAT, HOMOLOG OF; SHARP2
NULL 604257 CAMERA-MARUGO-COHEN SYNDROME
Asterisk 604258 DELETED IN LIVER CANCER 1; DLC1 RHO GTPase-ACTIVATING PROTEIN 7; ARHGAP7
Asterisk 604259 PLEXIN C1; PLXNC1 VIRUS-ENCODED SEMAPHORIN PROTEIN RECEPTOR; VESPR
Asterisk 604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B STAT5B/RARA FUSION GENE, INCLUDED
Asterisk 604261 AUTOPHAGY 5, S. CEREVISIAE, HOMOLOG OF; ATG5 APG5, S. CEREVISIAE, HOMOLOG OF; APG5;; APG5-LIKE; APG5L;; APOPTOSIS-SPECIFIC PROTEIN; ASP
Asterisk 604262 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 3; APBA3 X11-LIKE 2; X11L2;; MUNC18-1-INTERACTING PROTEIN 3, RAT, HOMOLOG OF;; MINT3, RAT, HOMOLOG OF
Asterisk 604263 PRION GENE COMPLEX, DOWNSTREAM; PRND DOWNSTREAM, PRION-LIKE; DPL;; DOPPEL
Asterisk 604264 CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 3; CELSR3 EPIDERMAL GROWTH FACTOR-LIKE 1; EGFL1;; MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 2; MEGF2;; FLAMINGO, DROSOPHILA, HOMOLOG OF, 1; FMI1
Asterisk 604265 CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 2; CELSR2 EPIDERMAL GROWTH FACTOR-LIKE 2; EGFL2;; MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 3; MEGF3
Asterisk 604266 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 6; MEGF6 EPIDERMAL GROWTH FACTOR-LIKE 3, FORMERLY; EGFL3, FORMERLY
Asterisk 604267 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 8; MEGF8 EPIDERMAL GROWTH FACTOR-LIKE 4, FORMERLY; EGFL4, FORMERLY
Asterisk 604268 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 9; MEGF9 EPIDERMAL GROWTH FACTOR-LIKE 5, FORMERLY; EGFL5, FORMERLY
Asterisk 604269 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 2; FAT2 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 1; MEGF1
Asterisk 604270 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 4; LRP4 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 7; MEGF7
Number Sign 604271 GROWTH HORMONE INSENSITIVITY, PARTIAL; GHIP
Asterisk 604272 SCO2 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN; SCO2 SCO2, S. CEREVISIAE, HOMOLOG OF
Number Sign 604273 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE
Asterisk 604274 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 1; KLRA1 LY49, MOUSE, HOMOLOG OF;; LY49L
Asterisk 604275 CATENIN, DELTA-2; CTNND2 NEURAL PLAKOPHILIN-RELATED ARMADILLO-REPEAT PROTEIN; NPRAP;; CATENIN, DELTA
Asterisk 604276 PLAKOPHILIN 4; PKP4 p0071
Asterisk 604277 SPASTIN; SPAST SPG4 GENE; SPG4
Number Sign 604278 RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION RTA, PROXIMAL, AUTOSOMAL RECESSIVE
Asterisk 604279 JUNCTION-MEDIATING AND REGULATORY PROTEIN; JMY JMY
Asterisk 604280 PLEXIN A4; PLXNA4
Asterisk 604281 DBF4, S. CEREVISIAE, HOMOLOG OF; DBF4 DBF4A;; ACTIVATOR OF S-PHASE KINASE; ASK;; DUMBBELL FORMER 4, S. CEREVISIAE, HOMOLOG OF
Asterisk 604282 PLEXIN D1; PLXND1
Asterisk 604283 PROTEOGLYCAN 4; PRG4 MEGAKARYOCYTE-STIMULATING FACTOR; MSF;; CACP GENE; CACP;; SUPERFICIAL ZONE PROTEIN; SZP HEMANGIOPOIETIN, INCLUDED; HAPO, INCLUDED;; LUBRICIN, INCLUDED
Caret 604284 MOVED TO 137920
Asterisk 604285 ALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT AGXT1;; AGT;; SERINE-PYRUVATE AMINOTRANSFERASE; SPT; SPAT
Number Sign 604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E
NULL 604287 CARNEY TRIAD GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
Percent 604288 CARDIOMYOPATHY, DILATED, 1H; CMD1H CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT
Asterisk 604289 RAD54, S. CEREVISIAE, HOMOLOG OF, B RAD54B
Number Sign 604290 ACERULOPLASMINEMIA HYPOCERULOPLASMINEMIA, INCLUDED;; CERULOPLASMIN DEFICIENCY, INCLUDED;; HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, INCLUDED
NULL 604291 ASCARIS LUMBRICOIDES INFECTION, SUSCEPTIBILITY TO ASCARIASIS, SUSCEPTIBILITY TO
Number Sign 604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3 EEC SYNDROME 3
Asterisk 604293 PLEXIN B2; PLXNB2 MM1
Asterisk 604294 VENTRAL ANTERIOR HOMEOBOX 1; VAX1
Asterisk 604295 VENTRAL ANTERIOR HOMEOBOX 2; VAX2
Asterisk 604296 GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE; GRHPR GLXR
Asterisk 604297 SYNAPTOJANIN 1; SYNJ1
Asterisk 604298 SIGNAL TRANSDUCING ADAPTOR FAMILY MEMBER 1; STAP1 BCR DOWNSTREAM SIGNALING 1; BRDG1
Asterisk 604299 ADAPTOR PROTEIN, PHOSPHOTYROSINE INTERACTION, PH DOMAIN, AND LEUCINE ZIPPER-CONTAINING PROTEIN 1; APPL1 ADAPTOR PROTEIN CONTAINING PH DOMAIN, PTB DOMAIN, AND LEUCINE ZIPPER MOTIF 1;; APPL;; DIP13-ALPHA;; AKT2 INTERACTOR
Asterisk 604300 2-HYDROXYACYL-CoA LYASE 1; HACL1 2-HYDROXYPHYTANOYL-CoA LYASE;; 2-HPCL;; HPCL2
Asterisk 604301 OCULOMEDIN; OCLM TRABECULAR MESHWORK-INDUCIBLE STRETCH RESPONSE; TISR
Number Sign 604302 RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE SYSTEMIC JUVENILE RHEUMATOID ARTHRITIS
Asterisk 604303 ACTIN-LIKE 7A; ACTL7A
Asterisk 604304 ACTIN-LIKE 7B; ACTL7B
Asterisk 604305 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1
Asterisk 604306 FAS APOPTOTIC INHIBITORY MOLECULE 2; FAIM2 LIFEGUARD; LFG;; NEUROMEMBRANE PROTEIN 35; NMP35
Number Sign 604307 CATARACT 2, MULTIPLE TYPES; CTRCT2 CATARACT 2, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, COPPOCK-LIKE; CCL
Number Sign 604308 MASS SYNDROME MASS PHENOTYPE;; OVERLAP CONNECTIVE TISSUE DISEASE; OCTD
Asterisk 604309 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER), MEMBER 4; SLC13A4 SULFATE TRANSPORTER 1; SUT1
Asterisk 604310 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 6; BLOC1S6 BLOC1, SUBUNIT 6; BLOS6;; PALLIDIN; PLDN;; PA;; PALLID, MOUSE, HOMOLOG OF;; HPS9 GENE; HPS9
Asterisk 604311 MEDIATOR COMPLEX SUBUNIT 1; MED1 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-BINDING PROTEIN; PPARBP;; PPAR-BINDING PROTEIN; PBP;; COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 1; CRSP1;; CRSP, 200-KD SUBUNIT; CRSP200;; THYROID HORMONE RECEPTOR INTERACTOR 2; TRIP2;; TRAP220;; RECOGNIZED BY PAb1801 MONOCLONAL ANTIBODY; RB18A;; VITAMIN D RECEPTOR-INTERACTING PROTEIN, 230-KD; DRIP230;; VITAMIN D RECEPTOR-INTERACTING PROTEIN, 205-KD; DRIP205
Asterisk 604312 CYSTATIN 3; CST3 CYSTATIN C;; GAMMA-TRACE
Asterisk 604313 GALACTOKINASE 1; GALK1 GALK;; GK1
Percent 604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, VERLOES TYPE
NULL 604315 ANEMIA, CONGENITAL HYPOPLASTIC, WITH MULTIPLE CONGENITAL ANOMALIES/MENTAL RETARDATION SYNDROME
Percent 604316 PSORIASIS 5, SUSCEPTIBILITY TO; PSORS5
Number Sign 604317 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2
Asterisk 604318 GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 1; GTF2IRD1 GENERAL TRANSCRIPTION FACTOR II-I REPEAT DOMAIN-CONTAINING PROTEIN 1;; GENERAL TRANSCRIPTION FACTOR III; GTF3;; MUSCLE TFII-I REPEAT DOMAIN-CONTAINING PROTEIN 1; MUSTRD1;; WBSCR11;; BINDING FACTOR FOR EARLY ENHANCER; BEN
Asterisk 604319 TRF1-INTERACTING NUCLEAR FACTOR 2; TINF2 TIN2
Number Sign 604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1;; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI; DHMN6;; HMN6;; HMN VI;; SEVERE INFANTILE AXONAL NEUROPATHY WITH RESPIRATORY FAILURE; SIANRF;; NEURONOPATHY, SEVERE INFANTILE AXONAL, WITH RESPIRATORY FAILURE;; SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC
Number Sign 604321 MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4
Asterisk 604322 SOLUTE CARRIER FAMILY 17 (ACIDIC SUGAR TRANSPORTER), MEMBER 5; SLC17A5 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 5;; SIALIN
Asterisk 604323 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 3; ABCC3 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 3; MRP3;; CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2; CMOAT2
NULL 604324 ACNE, ADULT
Asterisk 604325 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA; PPP2R2B PP2APR55-BETA;; PP2AB55-BETA;; PP2AB-BETA;; PR55-BETA;; B55-BETA
Number Sign 604326 SPINOCEREBELLAR ATAXIA 12; SCA12
Asterisk 604327 BETA-1,4-GALACTOSYLTRANSFERASE 7; B4GALT7 XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE, POLYPEPTIDE 7;; XGPT1; XGALT1;; GALACTOSYLTRANSFERASE I
Asterisk 604328 STRUCTURE-SPECIFIC RECOGNITION PROTEIN 1; SSRP1 CHROMATIN-SPECIFIC TRANSCRIPTION ELONGATION FACTOR, 80-KD SUBUNIT;; FACT, 80-KD SUBUNIT
Percent 604329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 2 HYT2
Asterisk 604330 GRB2-RELATED ADAPTOR PROTEIN; GRAP GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2-RELATED ADAPTOR PROTEIN
Asterisk 604331 INTEGRATOR COMPLEX SUBUNIT 6; INTS6 DEAD/H BOX 26; DDX26;; DELETED IN CANCER 1; DICE1;; INT6
Asterisk 604332 CYSTEINE-RICH HYDROPHOBIC DOMAIN PROTEIN 2; CHIC2 BRX-LIKE GENE TRANSLOCATED IN LEUKEMIA; BTL BTL/ETV6 FUSION GENE, INCLUDED
Asterisk 604333 WD40 REPEAT-CONTAINING PROTEIN CIAO1; CIAO1 WD REPEAT-CONTAINING PROTEIN 39; WDR39
Asterisk 604334 UBIQUITIN-SPECIFIC PROTEASE 6; USP6 TRE2 ONCOGENE; TRE2
NULL 604335 REFLEX SYMPATHETIC DYSTROPHY
Asterisk 604336 TRANSMEMBRANE PHOSPHATASE WITH TENSIN HOMOLOGY; TPTE
Asterisk 604337 CHLORIDE CHANNEL ACCESSORY 3, PSEUDOGENE; CLCA3P CHLORIDE CHANNEL, CALCIUM-ACTIVATED, 3; CLCA3
Caret 604338 REMOVED FROM DATABASE
Caret 604339 REMOVED FROM DATABASE
Caret 604340 REMOVED FROM DATABASE
Caret 604341 REMOVED FROM DATABASE
Caret 604342 REMOVED FROM DATABASE
Caret 604343 REMOVED FROM DATABASE
Asterisk 604344 MANNOSIDASE, ALPHA, CLASS 1A, MEMBER 1; MAN1A1
Asterisk 604345 MANNOSIDASE, ALPHA, CLASS 1A, MEMBER 2; MAN1A2
Asterisk 604346 MANNOSIDASE, ALPHA, CLASS 1B, MEMBER 1; MAN1B1
Asterisk 604347 ZINC FINGER RANBP2-TYPE DOMAIN-CONTAINING PROTEIN 2; ZRANB2 ZINC FINGER RAN-BINDING DOMAIN-CONTAINING PROTEIN 2;; ZINC FINGER PROTEIN 265; ZNF265;; ZINC FINGER, SPLICING; ZIS
Number Sign 604348 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1; FASPS1
Asterisk 604349 LAMININ, GAMMA-3; LAMC3
Asterisk 604350 RAS-ASSOCIATED PROTEIN RAB3D; RAB3D GLIOBLASTOMA OVEREXPRESSED; GOV
Asterisk 604351 PHD FINGER PROTEIN 2; PHF2
Number Sign 604352 FEBRILE SEIZURES, FAMILIAL, 4; FEB4 CONVULSIONS, FAMILIAL FEBRILE, 4
Asterisk 604353 CYSTEINE- AND HISTIDINE-RICH DOMAIN-CONTAINING PROTEIN 1; CHORDC1 CHORD DOMAIN-CONTAINING PROTEIN 1; CHP1
Asterisk 604354 NUCLEAR FMRP-INTERACTING PROTEIN 1; NUFIP1 NUCLEAR FMRP-INTERACTING PROTEIN; NUFIP
Asterisk 604355 COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-2; COPG2 COAT PROTEIN, NONCLATHRIN, GAMMA-2
Number Sign 604356 DUANE RETRACTION SYNDROME 2; DURS2
Asterisk 604357 MAB21, C. ELEGANS, HOMOLOG-LIKE 2; MAB21L2
Asterisk 604358 STROMAL ANTIGEN 1; STAG1 COHESIN SUBUNIT SA1
Caret 604359 MOVED TO 300826
Number Sign 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM;; SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM;; HSP-TCC
Caret 604361 MOVED TO 600638
Asterisk 604362 LIM DOMAIN ONLY 7; LMO7 F-BOX ONLY PROTEIN 20; FBXO20;; FBX20;; KIAA0858
NULL 604363 MYOCLONIC EPILEPSY, CONGENITAL DEAFNESS, MACULAR DYSTROPHY, AND PSYCHIATRIC DISORDERS
Number Sign 604364 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI; FFEVF;; EPILEPSY, PARTIAL, WITH VARIABLE FOCI; FPEVF
Asterisk 604365 PROMININ 1; PROM1 PROMININ, MOUSE, HOMOLOG-LIKE 1; PROML1;; AC133;; CD133 ANTIGEN; CD133
Asterisk 604366 DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1; DNAI1
Number Sign 604367 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS
Asterisk 604368 GLYCOPROTEIN NMB; GPNMB NMB
Number Sign 604369 SALLA DISEASE; SD SIALURIA, FINNISH TYPE
Number Sign 604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, INCLUDED;; OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, INCLUDED
Asterisk 604371 HUMAN ENDOGENOUS RETROVIRUS-H LONG TERMINAL REPEAT-ASSOCIATING 2; HHLA2 HERV-H LTR-ASSOCIATING 2;; B7 HOMOLOG 5; B7H5;; B7 HOMOLOG 7; B7H7
Asterisk 604372 HUMAN ENDOGENOUS RETROVIRUS-H LONG TERMINAL REPEAT-ASSOCIATING 3; HHLA3 HERV-H LTR-ASSOCIATING 3
Plus 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2 CHK2;; RAD53, S. CEREVISIAE, HOMOLOG OF; RAD53;; CDS1, S. POMBE, HOMOLOG OF BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO, INCLUDED;; HBCC, SUSCEPTIBILITY TO, INCLUDED
Asterisk 604374 METALLOTHIONEIN-LIKE 5, TESTIS-SPECIFIC; MTL5 TESTIS-SPECIFIC METALLOTHIONEIN-LIKE PROTEIN; TESMIN
Asterisk 604375 HUMAN GROWTH FACTOR-REGULATED TYROSINE KINASE SUBSTRATE; HGS HEPATOCYTE GROWTH FACTOR-REGULATED TYROSINE KINASE SUBSTRATE; HRS;; HGF-REGULATED TYROSINE KINASE SUBSTRATE
Asterisk 604376 MYELIN PROTEIN ZERO-LIKE 1; MPZL1 PROTEIN ZERO-RELATED; PZR
Number Sign 604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1; CEMCOX1 CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY
Asterisk 604378 BECLIN 1; BECN1
Number Sign 604379 HYPOTRICHOSIS 7; HYPT7 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2; LAH2;; HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH;; HYPOTRICHOSIS, TOTAL, MARI TYPE WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS, INCLUDED; ARWH2, INCLUDED;; WH/HT, INCLUDED
NULL 604380 ULNAR RAY DYSGENESIS WITH POSTAXIAL POLYDACTYLY AND RENAL CYSTIC DYSPLASIA
NULL 604381 PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES
NULL 604382 LISSENCEPHALY, FAMILIAL, WITH CLEFT PALATE AND CEREBELLAR HYPOPLASIA
Asterisk 604383 GROWTH FACTOR-INDEPENDENT 1B; GFI1B
Asterisk 604384 ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 1; ATP2C1 ATPase, Ca(2+)-SEQUESTERING;; SECRETORY PATHWAY Ca(2+) ATPase 1; SPCA1;; PMR1, RAT, HOMOLOG OF;; KIAA1347
Asterisk 604385 SODIUM CHANNEL, VOLTAGE-GATED, TYPE XI, ALPHA SUBUNIT; SCN11A NAV1.9
Asterisk 604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1 TRPS1 GENE
Number Sign 604387 NEPHRONOPHTHISIS 3; NPHP3 NPH3
Asterisk 604388 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-4; GNG4
Asterisk 604389 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-10; GNG10
Asterisk 604390 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-11; GNG11
Number Sign 604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER 1; ATLD1 ATLD
Asterisk 604392 ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1; AIPL1
Number Sign 604393 LEBER CONGENITAL AMAUROSIS 4; LCA4 RETINITIS PIGMENTOSA, JUVENILE, AIPL1-RELATED, INCLUDED;; CONE-ROD DYSTROPHY, AIPL1-RELATED, INCLUDED
Asterisk 604394 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-12; GNA12
Asterisk 604395 MutL, E. COLI, HOMOLOG OF, 3; MLH3
Asterisk 604396 SET DOMAIN PROTEIN, BIFURCATED, 1; SETDB1 ERG-ASSOCIATED PROTEIN WITH SET DOMAIN; ESET;; KIAA0067
Asterisk 604397 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-14; GNA14
Asterisk 604398 SECRETOGLOBIN, FAMILY 2A, MEMBER 1; SCGB2A1 MAMMAGLOBIN 2; MGB2;; MAMMAGLOBIN B;; LACRYGLOBIN;; LIPOPHILIN C; LPNC
Asterisk 604399 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 1B; PPP1R1B DOPAMINE- AND cAMP-REGULATED PHOSPHOPROTEIN, 32-KD; DARPP32
Number Sign 604400 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 5; ARVC5
Percent 604401 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6; ARVD6 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 6; ARVC6
Asterisk 604402 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 5; ST3GAL5 SIALYLTRANSFERASE 9; SIAT9;; CMP-NeuAc:LACTOSYLCERAMIDE ALPHA-2,3-SIALYLTRANSFERASE;; ALPHA-2,3-SIALYLTRANSFERASE V; ST3GALV;; GM3 SYNTHASE;; SATI
Number Sign 604403 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2 GEFS+, TYPE 2; GEFS+2 FEBRILE SEIZURES, FAMILIAL, 3A, INCLUDED; FEB3A, INCLUDED
Asterisk 604404 GLYPICAN 6; GPC6
Asterisk 604405 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 6; SIGLEC6 CD33 ANTIGEN-LIKE; CD33L;; CD33 ANTIGEN-LIKE 1; CD33L1;; OB-BINDING PROTEIN 1; OBBP1 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 6, MEMBRANE-BOUND, INCLUDED;; CD33 ANTIGEN-LIKE, MEMBRANE-BOUND, INCLUDED;; SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 6, SOLUBLE, INCLUDED;; CD33 ANTIGEN-LIKE, SOLUBLE, INCLUDED
Asterisk 604406 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-13; GNA13 G-ALPHA-13
Asterisk 604407 LEUCINE ZIPPER/EF-HAND-CONTAINING TRANSMEMBRANE PROTEIN 1; LETM1
Caret 604408 MOVED TO 600610
Asterisk 604409 GLUCOCORTICOID MODULATORY ELEMENT-BINDING PROTEIN 1; GMEB1 PARVOVIRUS INITIATION FACTOR, p96 SUBUNIT
Asterisk 604410 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 7; SIGLEC7 ADHESION INHIBITORY RECEPTOR MOLECULE 1; AIRM1;; p75
Asterisk 604411 INNER CENTROMERE PROTEIN; INCENP
Asterisk 604412 T-CELL LEUKEMIA/LYMPHOMA 6; TCL6 TCL1-NEIGHBORING GENE 1; TNG1;; TCL1-NEIGHBORING GENE 2; TNG2
Caret 604413 MOVED TO 604412
Asterisk 604414 POLYMERASE II, RNA, SUBUNIT F; POLR2F RPB6, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 14.4-KD SUBUNIT
Asterisk 604415 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE; STEAP STEAP1
Number Sign 604416 PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE PAPA SYNDROME; PAPAS;; FAMILIAL RECURRENT ARTHRITIS; FRA
Asterisk 604417 AF4/FMR2 FAMILY, MEMBER 4; AFF4 ALL1-FUSED GENE FROM CHROMOSOME 5q31; AF5Q31
Asterisk 604418 GAP JUNCTION PROTEIN, BETA-6; GJB6 CONNEXIN 30; CX30
Asterisk 604419 POLYMERASE, DNA, THETA; POLQ
Asterisk 604420 HEMATOPOIETICALLY EXPRESSED HOMEOBOX; HHEX PRHX; PRH
Asterisk 604421 PHOSDUCIN-LIKE; PDCL
Asterisk 604422 PANCREATIC LIPASE-RELATED PROTEIN 1; PNLIPRP1 PLRP1
Asterisk 604423 PANCREATIC LIPASE-RELATED PROTEIN 2; PNLIPRP2 PLRP2
Asterisk 604424 HOMEODOMAIN-INTERACTING PROTEIN KINASE 3; HIPK3 PKY;; DYRK6;; FAS-INTERACTING SERINE/THREONINE PROTEIN KINASE; FIST
Asterisk 604425 LIM HOMEOBOX GENE 8; LHX8 LHX7
Asterisk 604426 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 2; CYP4F2 CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 2;; LEUKOTRIENE B4 OMEGA-HYDROXYLASE, LIVER;; LTB4 OMEGA-HYDROXYLASE, LIVER
Asterisk 604427 SODIUM CHANNEL, VOLTAGE-GATED, TYPE X, ALPHA SUBUNIT; SCN10A NAV1.8;; PN3;; SENSORY NEURON-SPECIFIC SODIUM CHANNEL; SNS
Caret 604428 MOVED TO 300935
Asterisk 604429 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 2; PRRG2 PROLINE-RICH GLA PROTEIN 2; PRGP2
Asterisk 604430 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-7; GNG7
Percent 604431 POLYNEUROPATHY, LETHAL NEONATAL, AXONAL SENSORIMOTOR, AUTOSOMAL RECESSIVE
Number Sign 604432 SPINOCEREBELLAR ATAXIA 11; SCA11
Asterisk 604433 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 3; KCNE3 MINIMUM POTASSIUM ION CHANNEL-RELATED PEPTIDE 2; MIRP2;; MINK-RELATED PEPTIDE 2
Asterisk 604434 KALLIKREIN-RELATED PEPTIDASE 11; KLK11 KALLIKREIN 11;; PROTEASE, SERINE, 20; PRSS20;; TRYPSIN-LIKE SERINE PROTEASE; TLSP
Caret 604435 MOVED TO 164010
Asterisk 604436 PROLINE SYNTHETASE COTRANSCRIBED, BACTERIA, HOMOLOG OF; PROSC
Asterisk 604437 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 3; SLC38A3 TRANSPORT SYSTEM N, PROTEIN 1; SN1;; G17;; N-SYSTEM AMINO ACID TRANSPORTER 1; NAT1
Asterisk 604438 KALLIKREIN-RELATED PEPTIDASE 7; KLK7 KALLIKREIN 7;; PROTEASE, SERINE, 6; PRSS6;; STRATUM CORNEUM CHYMOTRYPTIC ENZYME; SCCE
Asterisk 604439 GRB2-ASSOCIATED BINDING PROTEIN 1; GAB1
Asterisk 604440 CELL DEATH-INDUCING DFFA-LIKE EFFECTOR A; CIDEA
Asterisk 604441 CELL DEATH-INDUCING DFFA-LIKE EFFECTOR B; CIDEB
Caret 604442 MOVED TO 144700
Asterisk 604443 ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 6; ACSL6 FATTY ACID CoA LIGASE, LONG CHAIN 6; FACL6;; LONG CHAIN ACYL-CoA SYNTHETASE 2; LACS2;; LONG CHAIN ACYL-CoA SYNTHETASE 5; LACS5;; ACYL-CoA SYNTHETASE 2; ACS2;; KIAA0837 ACS2/ETV6 FUSION GENE, INCLUDED
Asterisk 604444 BMP AND ACTIVIN MEMBRANE-BOUND INHIBITOR, XENOPUS, HOMOLOG OF; BAMBI NEUROMEDIN A; NMA
Asterisk 604445 PROTEASE INHIBITOR 13; PI13 SERINE PROTEASE INHIBITOR, CLADE B, MEMBER 13; SERPINB13;; HURPIN;; HEADPIN
Asterisk 604446 PHOSPHOTRIESTERASE-RELATED PROTEIN; PTER
Asterisk 604447 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-5; GNB5 GB5
Asterisk 604448 CYTOHESIN 1-INTERACTING PROTEIN; CYTIP CYTH1-INTERACTING PROTEIN;; PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN-BINDING PROTEIN; PSCDBP;; CYTOHESIN-BINDING PROTEIN; HE;; CYTOHESIN BINDER AND REGULATOR; CYBR
Asterisk 604449 PROTEASOME 26S SUBUNIT, NON-ATPase, 11; PSMD11 PROTEASE 26S, SUBUNIT 9; S9;; p44.5
Asterisk 604450 PROTEASOME 26S SUBUNIT, NON-ATPase, 12; PSMD12 p55;; RPN5
NULL 604451 BASAL CELL CARCINOMA, INFUNDIBULOCYSTIC BASAL CELL CARCINOMA WITH FOLLICULAR DIFFERENTIATION
Asterisk 604452 PROTEASOME 26S SUBUNIT, NON-ATPase, 5; PSMD5 PROTEASE 26S, SUBUNIT 5B; S5B
Asterisk 604453 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 2; NR5A2 FETOPROTEIN TRANSCRIPTION FACTOR; FTF;; HUMAN B1-BINDING FACTOR; HB1F;; CYP7A PROMOTER-BINDING FACTOR; CPF;; LIVER RECEPTOR HOMOLOG 1; LRH1
Number Sign 604454 WELANDER DISTAL MYOPATHY; WDM MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT;; MYOPATHY, DISTAL, SWEDISH
Asterisk 604455 SARCOSINE DEHYDROGENASE; SARDH SDH
Asterisk 604456 INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 1; IFITM1 INTERFERON-INDUCED PROTEIN 17; IFI17;; LEU13;; CD225
Asterisk 604457 NUCLEAR BODY PROTEIN SP110; SP110 SPECKLED, 110-KD;; INTRACELLULAR PATHOGEN RESISTANCE 1, MOUSE, HOMOLOG OF; IPR1 INTERFERON-INDUCED PROTEIN 41, INCLUDED; IFI41, INCLUDED;; INTERFERON-INDUCED PROTEIN 75, INCLUDED; IFI75, INCLUDED
Caret 604458 MOVED TO 604457
Asterisk 604459 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 3; IRAK3 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE M; IRAKM
Asterisk 604460 FAS-ASSOCIATED FACTOR 1; FAF1 HFAF1
Asterisk 604461 HUMAN PAPILLOMAVIRUS TYPE 6A INTEGRATION SITE 1; HPV6AI1
Asterisk 604462 SEMAPHORIN 4C; SEMA4C SEMAPHORIN F; SEMAF;; KIAA1739
Asterisk 604463 CD160 ANTIGEN; CD160 NATURAL KILLER CELL RECEPTOR BY55; BY55
Asterisk 604464 INTERSECTIN 2; ITSN2 SH3 DOMAIN PROTEIN 1B; SH3D1B;; SWA;; KIAA1256
Asterisk 604465 SH3 DOMAIN, GRB2-LIKE, 2; SH3GL2 SH3p4;; ENDOPHILIN 1;; ENDOPHILIN A1
Asterisk 604466 METHYLTRANSFERASE-LIKE 1; METTL1
Asterisk 604467 MONOCYTE-TO-MACROPHAGE DIFFERENTIATION-ASSOCIATED PROTEIN; MMD MMD1;; PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 11; PAQR11
Asterisk 604468 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 6; MAP3K6 MAPKKK6;; APOPTOSIS SIGNAL-REGULATING KINASE 2; ASK2
Asterisk 604469 EXOCYST COMPLEX COMPONENT 5; EXOC5 SEC10, S. CEREVISIAE, HOMOLOG OF;; SEC10-LIKE 1; SEC10L1
Asterisk 604470 CD2 ANTIGEN-BINDING PROTEIN 2; CD2BP2
Asterisk 604471 SOLUTE CARRIER FAMILY 1 (GLUTAMATE TRANSPORTER), MEMBER 7; SLC1A7 EXCITATORY AMINO ACID TRANSPORTER 5; EAAT5;; GLUTAMATE TRANSPORTER, RETINA
Asterisk 604472 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13; TNFSF13 APRIL;; TNF- AND APOL-RELATED LEUKOCYTE EXPRESSED LIGAND 2; TALL2
Asterisk 604473 GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1 MGLUR1;; GRM1-ALPHA; GRM1A;; MGLUR1-ALPHA; MGLUR1A
NULL 604474 HUMAN HERPESVIRUS TYPE 6, INTEGRATED
Asterisk 604475 RETICULON 4; RTN4 NEURITE OUTGROWTH INHIBITOR; NOGO NOGOA, INCLUDED;; NOGOB, INCLUDED;; NOGOC, INCLUDED;; NEURITE GROWTH INHIBITOR 220, INCLUDED; NI220, INCLUDED;; NI220/250, INCLUDED
Caret 604476 MOVED TO 604350
Asterisk 604477 CHROMOBOX HOMOLOG 3; CBX3 HP1, DROSOPHILA, HOMOLOG OF, GAMMA;; HP1-GAMMA
Asterisk 604478 CHROMOBOX HOMOLOG 5; CBX5 HP1, DROSOPHILA, HOMOLOG OF, ALPHA;; HP1-ALPHA;; HETEROCHROMATIN PROTEIN 1; HP1
Asterisk 604479 SIRTUIN 1; SIRT1 SIR2, S. CEREVISIAE, HOMOLOG-LIKE 1; SIR2L1;; SIR2-ALPHA;; HST2, S. CEREVISIAE, HOMOLOG OF
Asterisk 604480 SIRTUIN 2; SIRT2 SIR2, S. CEREVISIAE, HOMOLOG-LIKE 2; SIR2L2;; SIR2L
Asterisk 604481 SIRTUIN 3; SIRT3 SIR2, S. CEREVISIAE, HOMOLOG-LIKE 3; SIR2L3
Asterisk 604482 SIRTUIN 4; SIRT4 SIR2-LIKE 4; SIR2L4
Asterisk 604483 SIRTUIN 5; SIRT5 SIR2, S. CEREVISIAE, HOMOLOG-LIKE 5; SIR2L5
Number Sign 604484 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE; HMSNO HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE, FORMERLY; HMSNP, FORMERLY
Asterisk 604485 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 3; NR2E3 PHOTORECEPTOR-SPECIFIC NUCLEAR RECEPTOR; PNR
Asterisk 604486 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, MITOCHONDRIAL; PPIF CYCLOPHILIN 3; CYP3;; CYCLOPHILIN F
Asterisk 604487 OTOGELIN; OTOG OTGN
Asterisk 604488 TITIN-CAP; TCAP TELETHONIN
Asterisk 604489 ALPHA-METHYLACYL-CoA RACEMASE; AMACR
Asterisk 604490 SACSIN; SACS
Asterisk 604491 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE B; CBLB
Asterisk 604492 VOLTAGE-DEPENDENT ANION CHANNEL 1; VDAC1 PORIN;; OMP2, YEAST, HUMAN COMPLEMENT OF
Asterisk 604493 GAP JUNCTION PROTEIN, BETA-5; GJB5 CONNEXIN 31.1; CX31.1
Asterisk 604494 INTERLEUKIN 18 RECEPTOR 1; IL18R1 INTERLEUKIN 18 RECEPTOR, ALPHA CHAIN; IL18RA;; IL1 RECEPTOR-RELATED PROTEIN; IL1RRP
Asterisk 604495 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, BETA; NFKBIB INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, BETA;; I-KAPPA-B-BETA; IKBB;; THYROID HORMONE RECEPTOR INTERACTOR 9; TRIP9
Asterisk 604496 NFKB INHIBITOR-INTERACTING RAS-LIKE PROTEIN 1; NKIRAS1 I-KAPPA-B-INTERACTING RAS-LIKE PROTEIN 1;; KAPPA-B-RAS1;; KBRAS1
Asterisk 604497 NFKB INHIBITOR-INTERACTING RAS-LIKE PROTEIN 2; NKIRAS2 I-KAPPA-B-INTERACTING RAS-LIKE PROTEIN 2;; KAPPA-B-RAS2;; KBRAS2
Number Sign 604498 AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT
Percent 604499 HYPERLIPIDEMIA, COMBINED, 2 HYPLIP2;; HYPERLIPIDEMIA, FAMILIAL COMBINED, 2; FCHL2
Asterisk 604500 ZINC FINGER HIT DOMAIN-CONTAINING PROTEIN 3; ZNHIT3 HIT-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 3;; THYROID HORMONE RECEPTOR INTERACTOR 3; TRIP3
Asterisk 604501 THYROID HORMONE RECEPTOR INTERACTOR 4; TRIP4 ACTIVATING SIGNAL COINTEGRATOR 1; ASC1
Asterisk 604502 HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 3; HMGN3 THYROID HORMONE RECEPTOR INTERACTOR 7; TRIP7
Asterisk 604503 JUMONJI DOMAIN-CONTAINING PROTEIN 1C; JMJD1C THYROID HORMONE RECEPTOR INTERACTOR 8; TRIP8;; KIAA1380
Asterisk 604504 THYROID HORMONE RECEPTOR INTERACTOR 10; TRIP10 CDC42-INTERACTING PROTEIN 4; CIP4
Asterisk 604505 THYROID HORMONE RECEPTOR INTERACTOR 11; TRIP11 TRIP, 230-KD; TRIP230;; CLONAL EVOLUTION-RELATED GENE ON CHROMOSOME 14; CEV14;; GOLGI-MICROTUBULE-ASSOCIATED PROTEIN, 210-KD; GMAP210 GOLGI-MICROTUBULE-ASSOCIATED PROTEIN, 200-KD, INCLUDED; GMAP200, INCLUDED;; CEV14/PDGFRB FUSION GENE, INCLUDED
Asterisk 604506 THYROID HORMONE RECEPTOR INTERACTOR 12; TRIP12 UBIQUITIN LIGASE FOR ARF; ULF
Asterisk 604507 THYROID HORMONE RECEPTOR INTERACTOR 13; TRIP13 HUMAN PAPILLOMAVIRUS TYPE 16 E1 PROTEIN-BINDING PROTEIN; 16E1BP
Asterisk 604508 COP9 SIGNALOSOME, SUBUNIT 2; COPS2 THYROID HORMONE RECEPTOR INTERACTOR 15; TRIP15;; SGN2;; ALIEN, DROSOPHILA, HOMOLOG OF;; CSN2
Asterisk 604509 INTERLEUKIN 18 RECEPTOR ACCESSORY PROTEIN; IL18RAP INTERLEUKIN 18 RECEPTOR, BETA CHAIN; IL18RB;; ACCESSORY PROTEIN-LIKE; ACPL
Asterisk 604510 HYALURONOGLUCOSAMINIDASE 4; HYAL4
Asterisk 604511 CHROMOBOX HOMOLOG 1; CBX1 CBX;; HP1, DROSOPHILA, HOMOLOG OF, BETA;; HP1-BETA
Asterisk 604512 INTERLEUKIN 1 RECEPTOR-LIKE 2; IL1RL2 IL1RRP2;; INTERLEUKIN 36 RECEPTOR; IL36R IL36 RECEPTOR
Asterisk 604513 CD84 ANTIGEN; CD84 SLAM FAMILY, MEMBER 5; SLAMF5
Asterisk 604514 SH2 DOMAIN PROTEIN 2A; SH2D2A T-CELL SH2 DOMAIN-CONTAINING ADAPTOR PROTEIN; TSAD
Asterisk 604515 B-CELL LINKER PROTEIN; BLNK SH2 DOMAIN-CONTAINING LEUKOCYTE PROTEIN, 65-KD; SLP65;; B CELL-SPECIFIC ADAPTOR PROTEIN; BASH
Asterisk 604516 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 2; IGSF2 V7;; CD101
Asterisk 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA; PPARGC1A PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1; PPARGC1;; PPAR-GAMMA COACTIVATOR 1-ALPHA; PGC1A;; PGC1-ALPHA;; PPAR-GAMMA COACTIVATOR 1; PGC1
Asterisk 604518 GRB2-RELATED ADAPTOR PROTEIN 2; GRAP2 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2-RELATED ADAPTOR PROTEIN 2;; GRB2-RELATED PROTEIN WITH INSERT DOMAIN; GRID;; GADS
Percent 604519 INFLAMMATORY BOWEL DISEASE 3; IBD3
Asterisk 604520 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 14; TNFSF14 LIGHT;; HERPESVIRUS ENTRY MEDIATOR LIGAND; HVEML
Asterisk 604521 3-HYDROXYANTHRANILATE 3,4-DIOXYGENASE; HAAO 3-HYDROXYANTHRANILIC ACID DIOXYGENASE;; 3-HAO
Asterisk 604522 DEFENSIN, ALPHA, 3; DEFA3 DEF3;; HUMAN NEUTROPHIL PEPTIDE 3; HNP3
Asterisk 604523 CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 1; CELSR1 FLAMINGO, DROSOPHILA, HOMOLOG OF, 2; FMI2
Asterisk 604524 LYMPHOCYTE ANTIGEN 75; LY75 DEC205;; GP200-MR6;; CD205;; CLEC13B
Asterisk 604525 HISTAMINE RECEPTOR H3; HRH3 G PROTEIN-COUPLED RECEPTOR 97; GPCR97
Asterisk 604526 ISOCITRATE DEHYDROGENASE 3, BETA SUBUNIT; IDH3B ISOCITRATE DEHYDROGENASE, NAD(+)-SPECIFIC, MITOCHONDRIAL, BETA SUBUNIT
Asterisk 604527 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 3; KCNH3 POTASSIUM CHANNEL, VOLTAGE-GATED, ETHER-A-GO-GO-RELATED SUBFAMILY, MEMBER 3;; BRAIN-SPECIFIC EAG-LIKE CHANNEL 1; BEC1
Asterisk 604528 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 4; KCNH4 POTASSIUM CHANNEL, VOLTAGE-GATED, ETHER-A-GO-GO-RELATED SUBFAMILY, MEMBER 4;; BRAIN-SPECIFIC EAG-LIKE CHANNEL 2; BEC2
Asterisk 604529 ORTHOPEDIA, DROSOPHILA, HOMOLOG OF; OTP
Asterisk 604530 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 1; NCR1 LYMPHOCYTE ANTIGEN 94, MOUSE, HOMOLOG OF; LY94;; ACTIVATING NATURAL KILLER RECEPTOR p46; NKp46
Asterisk 604531 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 2; NCR2 LYMPHOCYTE ANTIGEN 95, MOUSE, HOMOLOG OF; LY95;; ACTIVATING NK RECEPTOR NKp44; NKp44
Asterisk 604532 POLYCYSTIN 2-LIKE 1; PKD2L1 PKDL;; PKD2L;; POLYCYSTIN-L
Asterisk 604533 INTERFERON-STIMULATED GENE, 20-KD; ISG20 HEM45
Asterisk 604534 CD83 ANTIGEN; CD83 HB15;; BL11
Asterisk 604535 KINESIN FAMILY MEMBER C3; KIFC3
Number Sign 604536 ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME MCGRATH SYNDROME
Number Sign 604537 LEBER CONGENITAL AMAUROSIS 5; LCA5
Asterisk 604538 KINESIN FAMILY MEMBER 2C; KIF2C KINESIN-LIKE 6; KNSL6;; MITOTIC CENTROMERE-ASSOCIATED KINESIN; MCAK
Asterisk 604539 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 2; ADAMTS2 PROCOLLAGEN I N-PROTEINASE; NPI
Asterisk 604540 KERATIN 36, TYPE I; KRT36 K36;; KA31;; KERATIN, HAIR, ACIDIC, 6; KRTHA6;; KERATIN, HARD, TYPE I, 6; HA6
Asterisk 604541 KERATIN 37, TYPE I; KRT37 K37;; KA32;; KERATIN, HAIR, ACIDIC, 7; KRTHA7;; KERATIN, HARD, TYPE I, 7; HA7
Asterisk 604542 KERATIN 38, TYPE I; KRT38 K38;; KA33;; KERATIN, HAIR, ACIDIC, 8; KRTHA8;; KERATIN, HARD, TYPE I, 8; HA8
Asterisk 604543 LIM DOMAIN-CONTAINING PROTEIN 1; LIMD1
Asterisk 604544 LEUCYL-tRNA SYNTHETASE 2; LARS2 LEUCYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL LEURS
Asterisk 604545 KARYOPHERIN ALPHA-5; KPNA5 IMPORTIN ALPHA-6
Asterisk 604546 TONSOKU-LIKE DNA REPAIR PROTEIN; TONSL NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR-LIKE 2; NFKBIL2;; I-KAPPA-B-RELATED; IKBR
Percent 604547 VAN DER WOUDE SYNDROME 1, MODIFIER OF VWSM
Asterisk 604548 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, EPSILON; NFKBIE INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, EPSILON; IKBE
Caret 604549 MOVED TO 172471
Asterisk 604550 DENSITY-REGULATED PROTEIN; DENR DRP
Asterisk 604551 CHOLESTEROL 25-HYDROXYLASE; CH25H
Asterisk 604552 HEPATOCYTE GROWTH FACTOR ACTIVATOR; HGFAC HGF ACTIVATOR; HGFA
Asterisk 604553 HEAT-SHOCK FACTOR-BINDING PROTEIN 1; HSBP1
Asterisk 604554 HEAT-SHOCK TRANSCRIPTION FACTOR 2-BINDING PROTEIN; HSF2BP
Asterisk 604555 CADHERIN 10; CDH10 T2-CADHERIN
Asterisk 604556 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1B; DYRK1B MINIBRAIN-RELATED KINASE; MIRK
Asterisk 604557 ZINC FINGER PROTEIN 423; ZNF423 ZINC FINGER PROTEIN 423, MOUSE, HOMOLOG OF; ZFP423;; OLF1/EBF-ASSOCIATED ZINC FINGER PROTEIN; OAZ;; KIAA0760
Asterisk 604558 INDUCIBLE T-CELL COSTIMULATOR; ICOS INDUCIBLE COSTIMULATOR;; ACTIVATION-INDUCIBLE LYMPHOCYTE IMMUNOMEDIATORY MOLECULE; AILIM
Number Sign 604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B PFHBIB
Caret 604560 MOVED TO 604453
Asterisk 604561 ALPHA-1,3-MANNOSYL-GLYCOPROTEIN BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME B; MGAT4B UDP-N-ACETYLGLUCOSAMINE:ALPHA-1,3-D-MANNOSIDE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME B;; GNT-IVB
Asterisk 604562 APOPTOTIC CHROMATIN CONDENSATION INDUCER 1; ACIN1 APOPTOTIC CHROMATIN CONDENSATION INDUCER IN THE NUCLEUS; ACINUS
Number Sign 604563 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2 CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED
Asterisk 604564 GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 3; MGST3
Asterisk 604565 ALG5, S. CEREVISIAE, HOMOLOG OF; ALG5 DOLICHYL PHOSPHATE GLUCOSYLTRANSFERASE
Asterisk 604566 ALG6, S. CEREVISIAE, HOMOLOG OF; ALG6
Asterisk 604567 DOUBLE C2-LIKE DOMAIN-CONTAINING PROTEIN, ALPHA; DOC2A
Asterisk 604568 DOUBLE C2-LIKE DOMAIN-CONTAINING PROTEIN, BETA; DOC2B
Asterisk 604569 CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2 CONTACTIN-ASSOCIATED PROTEIN 2; CASPR2;; NEUREXIN IV, DROSOPHILA, HOMOLOG OF; NRXN4
Asterisk 604570 SHROOM FAMILY MEMBER 3; SHROOM3 SHROOM, MOUSE, HOMOLOG OF; SHRM;; KIAA1481
Number Sign 604571 BARE LYMPHOCYTE SYNDROME, TYPE I BLS, TYPE I;; HLA CLASS I DEFICIENCY
Asterisk 604572 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 1; DNAJB1 HEAT-SHOCK 40-KD PROTEIN 1; HSPF1;; HDJ1 DNAJB1/PRKACA FUSION GENE, INCLUDED
Asterisk 604573 CHROMOSOME 14 OPEN READING FRAME 2; C14ORF2 MP68, RAT, HOMOLOG OF; MP68
Asterisk 604574 FERRIC CHELATE REDUCTASE 1-LIKE; FRRS1L CHROMOSOME 9 OPEN READING FRAME 4; C9ORF4;; CG6
Asterisk 604575 ZINC FINGER HIT DOMAIN-CONTAINING PROTEIN 2; ZNHIT2 HIT-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 2;; CHROMOSOME 11 OPEN READING FRAME 5; C11ORF5;; FON
Asterisk 604576 ERGOSTEROL BIOSYNTHESIS 28 HOMOLOG; ERG28 CHROMOSOME 14 OPEN READING FRAME 1; C14ORF1
Asterisk 604577 BLOOD VESSEL EPICARDIAL SUBSTANCE; BVES HBVES;; POPEYE PROTEIN 1; POP1;; POPEYE DOMAIN-CONTAINING PROTEIN 1; POPDC1
Asterisk 604578 ABSENT IN MELANOMA 2; AIM2
Asterisk 604579 FRIZZLED, DROSOPHILA, HOMOLOG OF, 4; FZD4
Asterisk 604580 FIBULIN 5; FBLN5 DEVELOPMENTAL ARTERIES AND NEURAL CREST EGF-LIKE; DANCE
Asterisk 604581 ATPase FAMILY GENE 3-LIKE 2; AFG3L2
Asterisk 604582 A-KINASE ANCHOR PROTEIN 2; AKAP2 AKAPKL;; KIAA0920 PARALEMMIN 2, INCLUDED; PALM2, INCLUDED;; PALM2-AKAP2 TRANSCRIPT, INCLUDED
Asterisk 604583 PROGRAMMED CELL DEATH 5; PDCD5 TF1 CELL APOPTOSIS-RELATED GENE 19; TFAR19
Asterisk 604584 PLATELET-DERIVED GROWTH FACTOR RECEPTOR-LIKE; PDGFRL PLATELET-DERIVED GROWTH FACTOR-BETA-LIKE TUMOR SUPPRESSOR; PRLTS;; PDGRL
Asterisk 604585 NUCLEAR BODY PROTEIN SP100; SP100 NUCLEAR ANTIGEN SP100; SP100;; SPECKLED, 100-KD SP100B, INCLUDED;; LYSP100B, INCLUDED;; SP100-HMG, INCLUDED
Asterisk 604586 SYNTAXIN-BINDING PROTEIN 5; STXBP5 TOMOSYN
Asterisk 604587 CALCIUM BINDING AND COILED-COIL DOMAIN PROTEIN 2; CALCOCO2 NUCLEAR DOMAIN 10 PROTEIN 52; NDP52
Asterisk 604588 NEVER IN MITOSIS GENE A-RELATED KINASE 1; NEK1 NIMA-RELATED KINASE 1;; KIAA1901
Asterisk 604589 BROMODOMAIN-CONTAINING PROTEIN 1; BRD1 BR140-LIKE GENE; BRL;; BROMODOMAIN- AND PHD FINGER-CONTAINING PROTEIN 2; BRPF2
Asterisk 604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B CD32;; FC-GAMMA-RIIB
Asterisk 604591 PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 1; PEBP1 PBP;; RAF KINASE INHIBITOR PROTEIN; RKIP;; HIPPOCAMPAL CHOLINERGIC NEUROSTIMULATING PEPTIDE PRECURSOR PROTEIN;; HCNP PRECURSOR PROTEIN
Asterisk 604592 T CELL IMMUNE REGULATOR 1; TCIRG1 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;; VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3 TIRC7, INCLUDED;; OC116, INCLUDED
Asterisk 604593 KINESIN FAMILY MEMBER 5C; KIF5C KINESIN, HEAVY CHAIN, NEURON-SPECIFIC, 2; NKHC2
Asterisk 604594 CYSTEINE-RICH PDZ DOMAIN-BINDING PROTEIN; CRIPT CYSTEINE-RICH INTERACTOR OF PDZ3
Percent 604595 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 CLQTL1;; CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13;; CHOLESTEROL-LOWERING FACTOR; CLF
Asterisk 604596 CMT1A DUPLICATED REGION TRANSCRIPT 1; CDRT1 CHROMOSOME 17 OPEN READING FRAME 1A; C17ORF1A;; C17ORF1
Asterisk 604597 GLUTAMATE RECEPTOR-INTERACTING PROTEIN 1; GRIP1
Asterisk 604598 OXIDATIVE STRESS-INDUCED GROWTH INHIBITOR FAMILY MEMBER 2; OSGIN2 CHROMOSOME 8 OPEN READING FRAME 1; C8ORF1
Asterisk 604599 EUCHROMATIC HISTONE-LYSINE N-METHYLTRANSFERASE 2; EHMT2 HLA-B-ASSOCIATED TRANSCRIPT 8; BAT8;; G9A;; NG36
Asterisk 604600 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 5; TRPM5 LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 5; LTRPC5;; MLSN1- AND TRP-RELATED GENE 1; MTR1
Asterisk 604601 TRANSLATIONAL RELEASE FACTOR, MITOCHONDRIAL, 1; MTRF1
Asterisk 604602 RIBOSOME-RECYCLING FACTOR, MITOCHONDRIAL; MRRF RRF
Asterisk 604603 FER-1, C. ELEGANS, HOMOLOG-LIKE 3; FER1L3 MYOFERLIN; MYOF
Asterisk 604604 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 9; SLC30A9 CHROMOSOME 4 OPEN READING FRAME 1; C4ORF1;; HUEL
Asterisk 604605 KALIRIN; KALRN HUNTINGTIN-ASSOCIATED PROTEIN-INTERACTING PROTEIN, INCLUDED; HAPIP, INCLUDED;; DUO, INCLUDED;; SERINE/THREONINE PROTEIN KINASE WITH DBL HOMOLOGY AND PLECKSTRIN HOMOLOGY DOMAINS, INCLUDED; DUET, INCLUDED
Asterisk 604606 ODORANT-BINDING PROTEIN 2B; OBP2B
Asterisk 604607 HOMEOBOX B13; HOXB13
Caret 604608 MOVED TO 604609
Asterisk 604609 MUCIN 12; MUC12 MUCIN 11; MUC11
Asterisk 604610 RECQ PROTEIN-LIKE 3; RECQL3 DNA HELICASE, RECQ-LIKE, TYPE 2; RECQ2;; BLM GENE; BLM
Asterisk 604611 RECQ PROTEIN-LIKE 2; RECQL2 DNA HELICASE, RECQ-LIKE, TYPE 3; RECQ3;; WRN GENE; WRN
Asterisk 604612 NK2 HOMEOBOX 2; NKX2-2 NK2, DROSOPHILA, HOMOLOG OF, B; NKX2B;; NKX2.2, MOUSE, HOMOLOG OF
Asterisk 604613 T-BOX 18; TBX18
Asterisk 604614 T-BOX 19; TBX19 T-BOX FACTOR, PITUITARY; TPIT
Asterisk 604615 EOMESODERMIN, XENOPUS, HOMOLOG OF; EOMES T-BOX, BRAIN, 2; TBR2
Asterisk 604616 T-BOX, BRAIN, 1; TBR1
Asterisk 604617 NEURAMINIDASE 3; NEU3 SIALIDASE 3; SIAL3;; SIALIDASE, MEMBRANE
Asterisk 604618 NITRILASE 1; NIT1
Asterisk 604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1 EPITEMPIN; EPTP
Asterisk 604620 G PROTEIN-COUPLED RECEPTOR 65; GPR65 T-CELL DEATH-ASSOCIATED GENE 8; TDAG8
Asterisk 604621 BETA-1,4-MANNOSYL-GLYCOPROTEIN BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE; MGAT3 UDP-N-ACETYLGLUCOSAMINE:BETA-D-MANNOSIDE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE;; GNT-III
Caret 604622 MOVED TO 606519
Asterisk 604623 ALPHA-1,3-MANNOSYL-GLYCOPROTEIN BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME A; MGAT4A UDP-N-ACETYLGLUCOSAMINE:ALPHA-1,3-D-MANNOSIDE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME A;; GNT-IVA;; N-ACETYLGLUCOSAMINE TRANSFERASE 4A
Asterisk 604624 HEAT-SHOCK 27-KD PROTEIN 3; HSPB3 HEAT-SHOCK PROTEIN 27-LIKE PROTEIN; HSPL27
Number Sign 604625 TOOTH AGENESIS, SELECTIVE, 3; STHAG3 HYPODONTIA/OLIGODONTIA 3
Asterisk 604626 MALIC ENZYME 3; ME3 MALIC ENZYME, NADP(+)-DEPENDENT, MITOCHONDRIAL
Asterisk 604627 INTERLEUKIN 17B; IL17B
Asterisk 604628 INTERLEUKIN 17C; IL17C
Asterisk 604629 MATRIX METALLOPROTEINASE 20; MMP20 ENAMELYSIN
Asterisk 604630 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 2; NR0B2 SMALL HETERODIMER PARTNER; SHP; SHP1
Asterisk 604631 VESICLE AMINE TRANSPORT PROTEIN 1; VAT1
Asterisk 604632 VAC14, S. CEREVISIAE, HOMOLOG OF; VAC14 ASSOCIATED REGULATOR OF PIKFYVE; ARPIKFYVE;; TAX1-BINDING PROTEIN 2; TAX1BP2;; TAX-REACTIVE PROTEIN X; TRX
Asterisk 604633 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2; EFEMP2 FIBULIN 4; FBLN4
Asterisk 604634 TRANSGELIN 2; TAGLN2
Asterisk 604635 NEUREXOPHILIN 2; NXPH2 NPH2
Asterisk 604636 NEUREXOPHILIN 3; NXPH3 NPH3
Asterisk 604637 NEUREXOPHILIN 4; NXPH4 NPH4
Asterisk 604638 ACTININ, ALPHA-4; ACTN4 ACTININ-4
Asterisk 604639 NEUREXOPHILIN 1; NXPH1 NPH1
Asterisk 604640 T-CELL LEUKEMIA HOMEOBOX 3; TLX3 HOMEOBOX 11-LIKE 2; HOX11L2;; RESPIRATORY NEURON HOMEOBOX, MOUSE, HOMOLOG OF; RNX
Asterisk 604641 MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 1; MAPK8IP1 JNK-INTERACTING PROTEIN 1; JIP1;; ISLET-BRAIN 1; IB1
Asterisk 604642 CARBONIC ANHYDRASE X; CA10 CA X;; CARBONIC ANHYDRASE-RELATED PROTEIN X;; CARP X
Asterisk 604643 NEUROPEPTIDE FF-AMIDE PEPTIDE; NPFF NEUROPEPTIDE AF-AMIDE PEPTIDE, INCLUDED; NPAF, INCLUDED;; NEUROPEPTIDE FF- AND AF-AMIDE PEPTIDE PRECURSOR, INCLUDED;; FMRF-AMIDE-LIKE PEPTIDE PRECURSOR, INCLUDED; FMRFAL, INCLUDED
Asterisk 604644 CARBONIC ANHYDRASE XI; CA11 CARBONIC ANHYDRASE-RELATED PROTEIN 11;; CARP XI;; CARBONIC ANHYDRASE-RELATED PROTEIN 2; CARP2
Asterisk 604645 PHOSPHODIESTERASE 7B, cAMP-SPECIFIC, HIGH AFFINITY; PDE7B
Asterisk 604646 NUCLEOPORIN, 50-KD; NUP50 NPAP60, RAT, HOMOLOG OF; NPAP60L
Asterisk 604647 CALCYON; CALY DOPAMINE RECEPTOR D1-INTERACTING PROTEIN; DRD1IP
Asterisk 604648 T-BOX 10; TBX10
Asterisk 604649 TUBULIN-SPECIFIC CHAPERONE D; TBCD
Asterisk 604650 INTERFERON-INDUCED PROTEIN WITH TETRATRICOPEPTIDE REPEATS 3; IFIT3 RETINOIC ACID-INDUCED GENE G; RIGG;; INTERFERON-INDUCED PROTEIN 60; IFI60;; IFIT4
Asterisk 604651 GROWTH/DIFFERENTIATION FACTOR 7; GDF7 BONE MORPHOGENETIC PROTEIN 12; BMP12
Asterisk 604652 TRANSCRIPTION FACTOR 7-LIKE 1; TCF7L1 TRANSCRIPTION FACTOR 3, FORMERLY; TCF3, FORMERLY
Asterisk 604653 SOLUTE CARRIER FAMILY 40 (IRON-REGULATED TRANSPORTER), MEMBER 1; SLC40A1 FERROPORTIN 1; FPN1;; IRON-REGULATED TRANSPORTER 1; IREG1;; SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER), MEMBER 3, FORMERLY; SLC11A3, FORMERLY
Asterisk 604654 5-HYDROXYTRYPTAMINE RECEPTOR 3B; HTR3B SEROTONIN 5-HT-3B RECEPTOR
Asterisk 604655 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 14; MAP3K14 NF-KAPPA-B-INDUCING KINASE; NIK;; SERINE/THREONINE PROTEIN KINASE NIK;; HSNIK
Asterisk 604656 FORMIN-LIKE 1; FMNL1 FORMIN-LIKE; FMNL;; CHROMOSOME 17 OPEN READING FRAME 1B; C17ORF1B;; C17ORF1
Asterisk 604657 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 5; TM4SF5
Asterisk 604658 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 1; TM7SF1 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 1, LONG, INCLUDED; TM7SF1L, INCLUDED;; TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 1, INTERMEDIATE, INCLUDED; TM7SF1I, INCLUDED;; TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 1, SHORT, INCLUDED; TM7SF1S, INCLUDED
Asterisk 604659 ENDOGENOUS RETROVIRAL FAMILY W, MEMBER 1; ERVW1 ENDOGENOUS RETROVIRAL FAMILY W, ENV-C7, MEMBER 1; ERVWE1;; HERV-W;; SYNCYTIN;; SYNCYTIN 1;; SYNCYTIN A, MOUSE, HOMOLOG OF
Asterisk 604660 POTASSIUM CHANNEL-INTERACTING PROTEIN 1; KCNIP1 KCHIP1
Asterisk 604661 POTASSIUM CHANNEL-INTERACTING PROTEIN 2; KCNIP2 KCHIP2
Asterisk 604662 POTASSIUM CHANNEL-INTERACTING PROTEIN 3; KCNIP3 KCHIP3;; CALSENILIN; CSEN;; DRE-ANTAGONIST MODULATOR; DREAM
Asterisk 604663 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 6; WNT6
Asterisk 604664 INTERFERON-GAMMA-INDUCIBLE PROTEIN 30; IFI30 LYSOSOMAL THIOL REDUCTASE, GAMMA-INTERFERON-INDUCIBLE; GILT
Asterisk 604665 COP9 SIGNALOSOME, SUBUNIT 3; COPS3 SGN3
Asterisk 604666 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 4; MAP4K4 HEMATOPOIETIC PROGENITOR KINASE/GERMINAL CENTER KINASE-LIKE KINASE; HGK;; NCK-INTERACTING KINASE; NIK
Asterisk 604667 CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION; CADPS CAPS;; CADPS1;; KIAA1121
Asterisk 604668 ZINC FINGER PROTEIN 264; ZNF264
Asterisk 604669 POLYCYSTIN 2-LIKE 2; PKD2L2
Asterisk 604670 POLYCYSTIN AND SEA URCHIN REJ HOMOLOG-LIKE; PKDREJ
Asterisk 604671 JUMPING TRANSLOCATION BREAKPOINT; JTB
Asterisk 604672 CD209 ANTIGEN; CD209 DENDRITIC CELL-SPECIFIC ICAM3-GRABBING NONINTEGRIN; DCSIGN;; HIV GP120-BINDING PROTEIN;; C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER L; CLEC4L
Asterisk 604673 MURINE RETROVIRUS INTEGRATION SITE 1, HOMOLOG OF; MRVI1 INOSITOL 1,4,5-TRIPHOSPHATE-ASSOCIATED cGMP KINASE SUBSTRATE; IRAG;; IP3R-ASSOCIATED cGMP KINASE SUBSTRATE
Asterisk 604674 HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF 2; HEY2 CARDIOVASCULAR BASIC-LOOP-HELIX FACTOR, FORMERLY; CHF1, FORMERLY;; HAIRY/ENHANCER OF SPLIT-RELATED REPRESSOR PROTEIN 1; HERP1;; GRIDLOCK; GRL;; HAIRY-RELATED TRANSCRIPTION FACTOR 2; HRT2
Asterisk 604675 PAIRED-RELATED HOMEOBOX GENE 2; PRRX2 PAIRED-LIKE HOMEOBOX GENE 2; PRX2
Asterisk 604676 HLA COMPLEX P5 GENE; HCP5 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, GENE P5-1;; P5-1;; D6S2650E
Asterisk 604677 COL4A3-BINDING PROTEIN; COL4A3BP GOODPASTURE ANTIGEN-BINDING PROTEIN; GPBP CERAMIDE TRANSPORTER, INCLUDED; CERT, INCLUDED
Asterisk 604678 TRANSMEMBRANE 9 SUPERFAMILY, MEMBER 2; TM9SF2 p76
Asterisk 604679 POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 1; PABPC1 POLYADENYLATE-BINDING PROTEIN 1; PABP1; PAB1;; POLY(A)-BINDING PROTEIN 1;; POLY(A)-BINDING PROTEIN; PABP
Asterisk 604680 POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 3; PABPC3 POLYADENYLATE-BINDING PROTEIN 3; PABP3;; POLY(A)-BINDING PROTEIN 3;; POLYADENYLATE-BINDING PROTEIN-LIKE 3; PABPL3
Caret 604681 MOVED TO 604680
Asterisk 604682 INTEGRIN, ALPHA-E; ITGAE CD103 ANTIGEN;; HUMAN MUCOSAL LYMPHOCYTE ANTIGEN 1, ALPHA SUBUNIT
Asterisk 604683 KINESIN FAMILY MEMBER 3A; KIF3A
Asterisk 604684 MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA, TRANSLOCATED TO, 11; MLLT11 ALL1-FUSED GENE FROM CHROMOSOME 1q; AF1Q
Asterisk 604685 HOMEOBOX A2; HOXA2
Asterisk 604686 A-KINASE ANCHOR PROTEIN 13; AKAP13 LYMPHOID BLAST CRISIS ONCOGENE, INCLUDED; LBC, INCLUDED;; BREAST CANCER cDNA-ENCODED NUCLEAR RECEPTOR-BINDING AUXILIARY PROTEIN 1, INCLUDED; BRX1, INCLUDED; BRX, INCLUDED
Asterisk 604687 PROSTAGLANDIN D2 RECEPTOR; PTGDR PROSTANOID DP RECEPTOR; DP;; DP1
Asterisk 604688 A-KINASE ANCHOR PROTEIN 5; AKAP5 A-KINASE ANCHOR PROTEIN, 79-KD; AKAP79;; AKAP75, BOVINE, HOMOLOG OF;; AKAP150, MOUSE, HOMOLOG OF
Asterisk 604689 A-KINASE ANCHOR PROTEIN 3; AKAP3 A-KINASE ANCHOR PROTEIN, 110-KD; AKAP110;; FIBROUS SHEATH PROTEIN, 95-KD; FSP95;; SPERM OOCYTE-BINDING PROTEIN 1; SOB1
NULL 604690 GROWTH AND DEVELOPMENTAL RETARDATION, OCULAR PTOSIS, CARDIAC DEFECT, AND ANAL ATRESIA ROCA SYNDROME;; ROCA-WEIDEMANN SYNDROME
Asterisk 604691 A-KINASE ANCHOR PROTEIN 6; AKAP6 A-KINASE ANCHOR PROTEIN, 100-KD; AKAP100
Asterisk 604692 A-KINASE ANCHOR PROTEIN 8; AKAP8 A-KINASE ANCHOR PROTEIN, 95-KD; AKAP95
Asterisk 604693 A-KINASE ANCHOR PROTEIN 7; AKAP7 A-KINASE ANCHOR PROTEIN, 18-KD; AKAP18
Asterisk 604694 A-KINASE ANCHOR PROTEIN 10; AKAP10 DUAL-SPECIFIC A KINASE-ANCHORING PROTEIN 2; DAKAP2
Asterisk 604695 ADP-RIBOSYLATION FACTOR-LIKE 3; ARL3 ARFL3
Asterisk 604696 A-KINASE ANCHOR PROTEIN 11; AKAP11 A-KINASE ANCHOR PROTEIN, 220-KD; AKAP220
Asterisk 604697 CHEMOKINE, CC MOTIF, LIGAND 26; CCL26 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 26; SCYA26;; EOTAXIN 3
Asterisk 604698 A-KINASE ANCHOR PROTEIN 12; AKAP12 A-KINASE ANCHOR PROTEIN, 250-KD; AKAP250;; GRAVIN
Asterisk 604699 ADP-RIBOSYLATION FACTOR-RELATED PROTEIN 1; ARFRP1 ARP
Asterisk 604700 TARGET OF MYB1, CHICKEN, HOMOLOG OF; TOM1
Asterisk 604701 TOM1-LIKE 1; TOM1L1
Asterisk 604702 HMG BOX DOMAIN-CONTAINING 4; HMGXB4 HIGH MOBILITY GROUP PROTEIN 2-LIKE 1; HMG2L1;; THC211630
Caret 604703 MOVED TO 604702
Asterisk 604704 BREAST CANCER ANTIESTROGEN RESISTANCE 3; BCAR3 SH2 DOMAIN-CONTAINING PROTEIN 3B; SH2D3B;; NOVEL SH2-CONTAINING PROTEIN 2; NSP2
Asterisk 604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK
Caret 604706 MOVED TO 164015
Asterisk 604707 ALDO-KETO REDUCTASE FAMILY 1, MEMBER B10; AKR1B10 ALDOSE REDUCTASE-LIKE 1; ARL1;; HUMAN SMALL INTESTINE REDUCTASE;; HSI REDUCTASE
Asterisk 604708 NUCLEAR FACTOR OF ACTIVATED T CELLS 5; NFAT5 TONICITY-RESPONSIVE ENHANCER-BINDING PROTEIN; TONEBP;; NFAT-LIKE PROTEIN 1; NFATL1;; KIAA0827
Asterisk 604709 T-CELL LYMPHOMA INVASION AND METASTASIS 2; TIAM2
Asterisk 604710 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 4; LTBP4 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 4, SHORT, INCLUDED; LTBP4S, INCLUDED;; LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 4, LONG, INCLUDED; LTBP4L, INCLUDED
Asterisk 604711 UBIQUITIN-LIKE 3; UBL3
Asterisk 604712 RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B RIBONUCLEOTIDE REDUCTASE SMALL SUBUNIT 2-LIKE, p53-INDUCIBLE; P53R2;; p53-INDUCIBLE AND RIBONUCLEOTIDE REDUCTASE SMALL SUBUNIT 2-LIKE
Asterisk 604713 C-TYPE LECTIN DOMAIN FAMILY 11, MEMBER A; CLEC11A STEM CELL GROWTH FACTOR; SCGF;; LYMPHOCYTIC SECRETED LONG FORM OF C-TYPE LECTIN; LSLCL;; LECTIN, C-TYPE, LYMPHOCYTE-SECRETED LONG FORM
Asterisk 604714 TSPY-LIKE 1; TSPYL1 TSPY-LIKE; TSPYL
Number Sign 604715 ORTHOSTATIC INTOLERANCE NEUROCIRCULATORY ASTHENIA;; MITRAL VALVE PROLAPSE SYNDROME;; IRRITABLE HEART;; SOLDIERS HEART
Asterisk 604716 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER A1; UGT2A1 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER A1;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER A1 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER A2, INCLUDED; UGT2A2, INCLUDED
Number Sign 604717 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20 DFNA26
Asterisk 604718 TRANSCRIPTION TERMINATION FACTOR, RNA POLYMERASE II; TTF2
Asterisk 604719 SERINE/THREONINE PROTEIN KINASE 16; STK16 PKL12, MOUSE, HOMOLOG OF;; TRANSFORMING GROWTH FACTOR-BETA-STIMULATED FACTOR 1; TSF1;; TGFB-STIMULATED FACTOR 1
Asterisk 604720 TRANSFERRIN RECEPTOR 2; TFR2
Asterisk 604721 SH2 DOMAIN-CONTAINING PROTEIN 3A; SH2D3A NOVEL SH2-CONTAINING PROTEIN 1; NSP1
Asterisk 604722 SH2 DOMAIN-CONTAINING PROTEIN 3C; SH2D3C SH2 DOMAIN-CONTAINING PROTEIN 3;; NOVEL SH2-CONTAINING PROTEIN 3; NSP3;; SH2 DOMAIN-CONTAINING EPH RECEPTOR-BINDING PROTEIN 1; SHEP1;; CAS/HEF1-ASSOCIATED SIGNAL TRANSDUCER; CHAT
Asterisk 604723 Ts TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TSFM MITOCHONDRIAL TRANSLATION ELONGATION FACTOR Ts;; EFTsMT
Asterisk 604724 HEPARANASE; HPSE HPSE1; HSE1;; HPA;; HPA1
Asterisk 604725 UBIQUITIN-SPECIFIC PROTEASE 2; USP2 UBIQUITIN-SPECIFIC PROTEASE, 41-KD; UBP41
Asterisk 604726 SERINE/THREONINE PROTEIN KINASE 17A; STK17A DAP KINASE-RELATED APOPTOSIS-INDUCING PROTEIN KINASE 1; DRAK1
Asterisk 604727 SERINE/THREONINE PROTEIN KINASE 17B; STK17B DAP KINASE-RELATED APOPTOSIS-INDUCING PROTEIN KINASE 2; DRAK2
Asterisk 604728 UBIQUITIN-SPECIFIC PROTEASE 3; USP3
Asterisk 604729 UBIQUITIN-SPECIFIC PROTEASE 21; USP21 UBIQUITIN-SPECIFIC PROTEASE 23, FORMERLY; USP23, FORMERLY
Asterisk 604730 TUBBY-LIKE PROTEIN 3; TULP3
Asterisk 604731 UBIQUITIN-SPECIFIC PROTEASE 15; USP15
Asterisk 604732 TRANSCRIPTION FACTOR EC; TFEC TFECL
Asterisk 604733 TRYPTOPHANYL-tRNA SYNTHETASE 2; WARS2 TRYPTOPHANYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL TRPRS
Asterisk 604734 WD REPEAT-CONTAINING PROTEIN 1; WDR1 ACTIN-INTERACTING PROTEIN 1; AIP1
Asterisk 604735 UBIQUITIN-SPECIFIC PROTEASE 16; USP16 UBPM
Asterisk 604736 UBIQUITIN-SPECIFIC PROTEASE 25; USP25 UBIQUITIN-SPECIFIC PROTEASE ON CHROMOSOME 21; USP21
Asterisk 604737 WD REPEAT-CONTAINING PROTEIN 3; WDR3
Asterisk 604738 CHEMOKINE, CC MOTIF, RECEPTOR 9; CCR9 GPR-9-6
Asterisk 604739 RNA BINDING MOTIF PROTEIN 39; RBM39 SPLICING FACTOR HCC1;; COACTIVATOR OF ACTIVATOR PROTEIN 1 AND ESTROGEN RECEPTORS; CAPER;; RNA-BINDING REGION-CONTAINING PROTEIN 2; RNPC2 HCC1.3, INCLUDED;; HCC1.4, INCLUDED
Asterisk 604740 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 1; SLC39A1 ZINC/IRON-REGULATED TRANSPORTER-LIKE; ZIRTL;; ZRT- AND IRT-LIKE PROTEIN 1; ZIP1
Asterisk 604741 ALDO-KETO REDUCTASE FAMILY 1, MEMBER D1; AKR1D1 DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE;; STEROID 5-BETA-REDUCTASE; SRD5B1;; 5-BETA-REDUCTASE
Asterisk 604742 DOUBLECORTIN-LIKE KINASE 1; DCLK1 DOUBLECORTIN- AND CALMODULIN KINASE-LIKE 1; DCAMKL1;; CAMK-LIKE CREB REGULATORY KINASE 1; CLICK1; CL1;; KIAA0369
Asterisk 604743 DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 1; DDAH1
Asterisk 604744 DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 2; DDAH2
Asterisk 604745 TRANSCRIPTION FACTOR-LIKE 5; TCFL5
Asterisk 604746 TESTIS-SPECIFIC PROTEIN KINASE 2; TESK2
Asterisk 604747 SRY-BOX 14; SOX14 SRY-RELATED HMG-BOX GENE 14;; SOX28
Asterisk 604748 SRY-BOX 13; SOX13 SRY-RELATED HMG-BOX GENE 12;; ISLET CELL ANTIBODY 12; ICA12
Asterisk 604749 ZINC FINGER PROTEIN 93, MOUSE, HOMOLOG OF; ZFP93 ZINC FINGER PROTEIN 270; ZNF270;; HZF6
Asterisk 604750 ZINC FINGER PROTEIN 234; ZNF234 ZINC FINGER PROTEIN 269; ZNF269;; HZF4
Asterisk 604751 ZINC FINGER PROTEIN 266; ZNF266 HZF1
Asterisk 604752 ZINC FINGER PROTEIN 267; ZNF267 HZF2
Asterisk 604753 ZINC FINGER PROTEIN 268; ZNF268 HZF3
Asterisk 604754 ZINC FINGER PROTEIN 271; ZNF271 HZF7;; EPSTEIN-BARR VIRUS-INDUCED ZINC FINGER PROTEIN; ZNFEB
Asterisk 604755 ZINC FINGER PROTEIN 272; ZNF272 HZF8;; ZNF460
Asterisk 604756 ZINC FINGER PROTEIN 273; ZNF273 HZF9
Number Sign 604757 CRANIOSYNOSTOSIS 2; CRS2 CRANIOSYNOSTOSIS, BOSTON-TYPE; CSB
Asterisk 604758 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG B; RELB IREL
Asterisk 604759 SYNAPTONEMAL COMPLEX PROTEIN 3; SYCP3 SCP3;; COR1
Asterisk 604760 ZINC FINGER PROTEIN 236; ZNF236 ZNF236A, INCLUDED;; ZNF236B, INCLUDED
Asterisk 604761 ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 5; ZFAND5 AN1-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 5;; ZINC FINGER PROTEIN 216; ZNF216
Asterisk 604762 SWITCH-ASSOCIATED PROTEIN 70 SWAP70
Asterisk 604763 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 12; ARHGEF12 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR, LEUKEMIA-ASSOCIATED;; LEUKEMIA-ASSOCIATED RHO GEF; LARG;; KIAA0382 LARG/MLL FUSION GENE, INCLUDED
Asterisk 604764 ZINC FINGER AND HOMEODOMAIN PROTEIN 1; ZHX1
Number Sign 604765 CARDIOMYOPATHY, DILATED, 1I; CMD1I
Asterisk 604766 PODOCIN; NPHS2 PDCN
Asterisk 604767 DELETED IN ESOPHAGEAL CANCER 1; DEC1
Asterisk 604768 ZINC FINGER PROTEIN 254; ZNF254 ZINC FINGER PROTEIN 91-LIKE; ZNF91L
Asterisk 604769 PEROXIREDOXIN 3; PRDX3 PRX3;; ANTIOXIDANT PROTEIN 1; AOP1
Asterisk 604770 ACETYL-CoA ACYLTRANSFERASE 2; ACAA2 3-OXOACYL-CoA THIOLASE, MITOCHONDRIAL
NULL 604771 POLYCYSTIC BONE DISEASE PCBD
Number Sign 604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1 VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC; VTSIP
Asterisk 604773 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8
Asterisk 604774 ANGIOPOIETIN-LIKE 3; ANGPTL3 ANGIOPOIETIN 5; ANGPT5
Asterisk 604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1; TRPA1 ANKYRIN-LIKE PROTEIN WITH TRANSMEMBRANE DOMAINS 1; ANKTM1
Asterisk 604776 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-5; HLA-DRB5
Number Sign 604777 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5 ICHTHYOSIS, NONLAMELLAR AND NONERYTHRODERMIC, CONGENITAL, AUTOSOMAL RECESSIVE; NNCI;; ICHTHYOSIS CONGENITA III;; ICHTHYOSIS, LAMELLAR, 3, FORMERLY; LI3, FORMERLY
Asterisk 604778 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 29; ADAM29
Asterisk 604779 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 30; ADAM30
Asterisk 604780 ABHYDROLASE DOMAIN-CONTAINING 5; ABHD5 COMPARATIVE GENE IDENTIFICATION 58; CGI58;; NCIE2 GENE; NCIE2
Caret 604781 MOVED TO 604777
Asterisk 604782 ASH2-LIKE; ASH2L ASH2;; DROSOPHILA ASH2-LIKE;; DROSOPHILA ABSENT, SMALL, OR HOMEOTIC DISCS 2-LIKE;; ASH2L1;; ASH2L2
Asterisk 604783 CLEFT LIP AND PALATE-ASSOCIATED TRANSMEMBRANE PROTEIN 1; CLPTM1
Asterisk 604784 TRANSCRIPTION ELONGATION FACTOR A, 2; TCEA2
Asterisk 604785 CATENIN, ALPHA-LIKE, 1; CTNNAL1 CATULIN, ALPHA
Asterisk 604786 ADP-RIBOSYLATION FACTOR-LIKE 4A; ARL4A ADP-RIBOSYLATION FACTOR-LIKE 4; ARL4
Asterisk 604787 ADP-RIBOSYLATION FACTOR-LIKE 4C; ARL4C ADP-RIBOSYLATION FACTOR-LIKE 7; ARL7
Asterisk 604788 RUVB, E. COLI, HOMOLOG-LIKE 2; RUVBL2 TATA BOX-BINDING PROTEIN-INTERACTING PROTEIN, 48-KD; TIP48;; TBP-INTERACTING PROTEIN, 48-KD;; TIP49B;; REPTIN;; ERYTHROCYTE CYTOSOLIC PROTEIN, 51-KD; ECP51
Asterisk 604789 INTEGRIN, ALPHA-11; ITGA11
Asterisk 604790 TASTE RECEPTOR, TYPE 2, MEMBER 14; TAS2R14 T2R14;; TASTE RECEPTOR, FAMILY B, MEMBER 1; TRB1
Asterisk 604791 TASTE RECEPTOR, TYPE 2, MEMBER 10; TAS2R10 T2R10;; TASTE RECEPTOR, FAMILY B, MEMBER 2; TRB2
Asterisk 604792 TASTE RECEPTOR, TYPE 2, MEMBER 13; TAS2R13 T2R13;; TASTE RECEPTOR, FAMILY B, MEMBER 3; TRB3
Asterisk 604793 TASTE RECEPTOR, TYPE 2, MEMBER 7; TAS2R7 T2R7;; TASTE RECEPTOR, FAMILY B, MEMBER 4; TRB4
Asterisk 604794 TASTE RECEPTOR, TYPE 2, MEMBER 8; TAS2R8 T2R8;; TASTE RECEPTOR, FAMILY B, MEMBER 5; TRB5
Asterisk 604795 TASTE RECEPTOR, TYPE 2, MEMBER 9; TAS2R9 T2R9;; TASTE RECEPTOR, FAMILY B, MEMBER 6; TRB6
Asterisk 604796 TASTE RECEPTOR, TYPE 2, MEMBER 1; TAS2R1 T2R1;; TASTE RECEPTOR, FAMILY B, MEMBER 7; TRB7
Asterisk 604797 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 2; APOBEC2 APOBEC1-LIKE
Asterisk 604798 HOMER, DROSOPHILA, HOMOLOG OF, 1; HOMER1 HOMER HOMER1A, INCLUDED;; HOMER1B, INCLUDED;; HOMER1C, INCLUDED
Asterisk 604799 HOMER, DROSOPHILA, HOMOLOG OF, 2; HOMER2 HOMER2A, INCLUDED;; HOMER2B, INCLUDED
Asterisk 604800 HOMER, DROSOPHILA, HOMOLOG OF, 3; HOMER3
Percent 604801 MUSCULAR DYSTROPHY, CONGENITAL, 1B; MDC1B
Percent 604802 HUNTINGTON DISEASE-LIKE 3; HDL3 HUNTINGTON DISEASE-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL RECESSIVE
Asterisk 604803 DOPEY FAMILY MEMBER 2; DOPEY2 PATTERNING DEFECTIVE 1, C. ELEGANS, HOMOLOG OF; PAD1;; CHROMOSOME 21 OPEN READING FRAME 5; C21ORF5
Number Sign 604804 MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3
Number Sign 604805 SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12
Asterisk 604806 FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 1; FLRT1
Asterisk 604807 FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 2; FLRT2
Asterisk 604808 FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 3; FLRT3
Percent 604809 PANBRONCHIOLITIS, DIFFUSE DPB;; PBLT
Asterisk 604810 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 1; LILRA1 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 6; LIR6;; CD85I
Asterisk 604811 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1; LILRB1 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 1; LIR1;; IMMUNOGLOBULIN-LIKE TRANSCRIPT 2; ILT2;; MONOCYTE/MACROPHAGE IMMUNOGLOBULIN-LIKE RECEPTOR 7; MIR7;; CD85;; CD85J
Asterisk 604812 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 2; LILRA2 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 7; LIR7;; IMMUNOGLOBULIN-LIKE TRANSCRIPT 1; ILT1;; CD85H
Asterisk 604813 CYTOCHROME c OXIDASE COPPER CHAPERONE COX17; COX17 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX17;; COX17, S. CEREVISIAE, HOMOLOG OF
Asterisk 604814 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 5; LILRB5 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 8; LIR8;; CD85C
Asterisk 604815 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 2; LILRB2 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 2; LIR2;; IMMUNOGLOBULIN-LIKE TRANSCRIPT 4; ILT4;; MONOCYTE/MACROPHAGE IMMUNOGLOBULIN-LIKE RECEPTOR 10; MIR10;; CD85D
Caret 604816 MOVED TO 604213
Asterisk 604817 CARBOHYDRATE SULFOTRANSFERASE 5; CHST5 N-ACETYLGLUCOSAMINE-6-O-SULFOTRANSFERASE, INTESTINAL; IGlcNAc6ST;; GlcNAc-6-O-SULFOTRANSFERASE, INTESTINAL
Asterisk 604818 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 3; LILRA3 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 4; LIR4;; IMMUNOGLOBULIN-LIKE TRANSCRIPT 6; ILT6;; HM43;; CD85E
Asterisk 604819 POLY-U-BINDING SPLICING FACTOR, 60-KD; PUF60 FUSE-BINDING PROTEIN-INTERACTING REPRESSOR; FIR;; FBP-INTERACTING REPRESSOR;; SIAH-BINDING PROTEIN 1; SIAHBP1
Asterisk 604820 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 3; LILRB3 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 3; LIR3;; IMMUNOGLOBULIN LEUKOCYTE TRANSCRIPT 5; ILT5;; HL9;; CD85A;; PAIRED IMMUNOGLOBULIN-LIKE RECEPTOR B; PIRB
Asterisk 604821 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 4; LILRB4 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 5; LIR5;; IMMUNOGLOBULIN LEUKOCYTE TRANSCRIPT 3; ILT3;; HM18;; CD85K
Asterisk 604822 CALPAIN 11; CAPN11
Asterisk 604823 BarH-LIKE HOMEOBOX GENE 2; BARX2
Plus 604824 KLOTHO; KL ALPHA-KLOTHO CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED
Asterisk 604825 FASCICULATION AND ELONGATION PROTEIN ZETA 1; FEZ1 FASCICULATION AND ELONGATION PROTEIN ZYGIN I
Asterisk 604826 FASCICULATION AND ELONGATION PROTEIN ZETA 2; FEZ2 FASCICULATION AND ELONGATION PROTEIN ZYGIN II
Percent 604827 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7; EIG7 MYOCLONIC EPILEPSY, JUVENILE, 2, INCLUDED; EJM2, INCLUDED
Asterisk 604828 CHEMOKINE, C MOTIF, LIGAND 2; XCL2 SMALL INDUCIBLE CYTOKINE SUBFAMILY C, MEMBER 2; SCYC2;; SINGLE CYSTEINE MOTIF 1B; SCM1B
Asterisk 604829 DOWN SYNDROME CRITICAL REGION GENE 4; DSCR4 DOWN SYNDROME CRITICAL REGION GENE B; DSCRB
NULL 604830 MANDIBULOFACIAL DYSOSTOSIS SYNDROME, BAURU TYPE
Asterisk 604831 EVC GENE; EVC EVC1
Asterisk 604832 CARBONIC ANHYDRASE XIV; CA14 CA XIV
Asterisk 604833 CHEMOKINE, CC MOTIF, LIGAND 27; CCL27 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 27; SCYA27;; IL11RA-LOCUS CHEMOKINE; ILC;; CUTANEOUS T CELL-ATTRACTING CHEMOKINE; CTACK;; ESKINE
Asterisk 604834 TANK-BINDING KINASE 1; TBK1 NF-KAPPA-B-ACTIVATING KINASE; NAK
Asterisk 604835 DUAL-SPECIFICITY PHOSPHATASE 12; DUSP12 YVH1, S. CEREVISIAE, HOMOLOG OF
Asterisk 604836 CHEMOKINE, CC MOTIF, RECEPTOR 4; CCR4 CKR4;; CMKBR4
Asterisk 604837 PROSTAGLANDIN D2 RECEPTOR 2; PTGDR2 G PROTEIN-COUPLED RECEPTOR 44; GPR44;; CRTH2
Asterisk 604838 G PROTEIN-COUPLED RECEPTOR 45; GPR45
Asterisk 604839 FK506-BINDING PROTEIN 6; FKBP6 FK506-BINDING PROTEIN, 36-KD
Asterisk 604840 FK506-BINDING PROTEIN 8; FKBP8 FK506-BINDING PROTEIN, 38-KD; FKBP38
Number Sign 604841 STICKLER SYNDROME, TYPE II; STL2 STICKLER SYNDROME, VITREOUS TYPE 2;; STICKLER SYNDROME, BEADED VITREOUS TYPE
Asterisk 604842 SOLUTE CARRIER FAMILY 22 (EXTRANEURONAL MONOAMINE TRANSPORTER), MEMBER 3; SLC22A3 EXTRANEURONAL MONOAMINE TRANSPORTER; EMT;; ORGANIC CATION TRANSPORTER 3; OCT3
Asterisk 604843 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1 LIVER-SPECIFIC TRANSPORTER 1; LST1;; ORGANIC ANION TRANSPORTER 2; OATP2;; ORGANIC ANION TRANSPORTER C; OATPC;; ORGANIC ANION TRANSPORTER 1B1; OATP1B1;; SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 6, FORMERLY; SLC21A6, FORMERLY
Asterisk 604844 HEPARAN SULFATE 2-O-SULFOTRANSFERASE 1; HS2ST1
Asterisk 604845 PROSTATE CANCER ANTIGEN 3; PCA3 PROSTATE-SPECIFIC GENE DD3; DD3
Asterisk 604846 HEPARAN SULFATE 6-O-SULFOTRANSFERASE 1; HS6ST1 HS6ST
Asterisk 604847 G PROTEIN-COUPLED RECEPTOR 26; GPR26
Caret 604848 MOVED TO 604849
Asterisk 604849 TRACE AMINE-ASSOCIATED RECEPTOR 2; TAAR2 G PROTEIN-COUPLED RECEPTOR 58; GPR58
Asterisk 604850 COP9 SIGNALOSOME, SUBUNIT 5; COPS5 CSN5;; JUN ACTIVATION DOMAIN-BINDING PROTEIN; JAB1;; SGN5;; MOV34 FAMILY, 38-KD MEMBER
Asterisk 604851 G-RICH RNA SEQUENCE-BINDING FACTOR 1; GRSF1
Asterisk 604852 CHEMOKINE, CXC MOTIF, LIGAND 11; CXCL11 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 11; SCYB11;; INTERFERON-GAMMA-INDUCIBLE PROTEIN 9; IP9;; INTERFERON-INDUCIBLE T-CELL ALPHA CHEMOATTRACTANT; ITAC;; SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 9B; SCYB9B
Asterisk 604853 MITOCHONDRIAL RIBOSOMAL PROTEIN L28; MRPL28 MELANOMA-ASSOCIATED ANTIGEN RECOGNIZED BY T LYMPHOCYTES 1; MAAT1
Asterisk 604854 INDOLETHYLAMINE N-METHYLTRANSFERASE; INMT
NULL 604855 HYALURONAN METABOLISM, DEFECT IN
NULL 604856 LANGERHANS CELL HISTIOCYTOSIS LCH
Asterisk 604857 SIGNAL RECOGNITION PARTICLE, 54-KD; SRP54
Asterisk 604858 SIGNAL RECOGNITION PARTICLE, 68-KD; SRP68
Asterisk 604859 LIM AND CYSTEINE-RICH DOMAINS 1; LMCD1
Asterisk 604860 MUCOSA-ASSOCIATED LYMPHOID TISSUE LYMPHOMA TRANSLOCATION GENE 1; MALT1 MLT;; PARACASPASE MALT1/API2 FUSION GENE, INCLUDED
Asterisk 604861 LARGE TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 2; LATS2
Asterisk 604862 CD207 ANTIGEN; CD207 LECTIN, C-TYPE, LANGERHANS CELL-SPECIFIC;; LANGERIN;; C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER K; CLEC4K
Asterisk 604863 LECITHIN RETINOL ACYLTRANSFERASE; LRAT
Number Sign 604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA; OSCDP NAMAQUALAND HIP DYSPLASIA; NHD
Asterisk 604865 KRUPPEL-LIKE FACTOR 7; KLF7 UBIQUITOUS KRUPPEL-LIKE FACTOR; UKLF
Asterisk 604866 PLEOMORPHIC ADENOMA GENE-LIKE 2; PLAGL2
Plus 604867 TASTE RECEPTOR, TYPE 2, MEMBER 16; TAS2R16 T2R16 BETA-GLYCOPYRANOSIDE TASTING, INCLUDED
Asterisk 604868 TASTE RECEPTOR, TYPE 2, MEMBER 3; TAS2R3 T2R3
Asterisk 604869 TASTE RECEPTOR, TYPE 2, MEMBER 4; TAS2R4 T2R4
Asterisk 604870 MACROPHAGE RECEPTOR WITH COLLAGENOUS STRUCTURE; MARCO SCAVENGER RECEPTOR CLASS A, MEMBER 2; SCARA2
Asterisk 604871 MATRIX METALLOPROTEINASE 24; MMP24 MEMBRANE-TYPE MATRIX METALLOPROTEINASE 5; MT5-MMP
Asterisk 604872 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 7; PCSK7 PC8;; PC7;; LYMPHOMA PROPROTEIN CONVERTASE; LPC
Asterisk 604873 MYELIN PROTEIN ZERO-LIKE 2; MPZL2 EPITHELIAL V-LIKE ANTIGEN 1; EVA1;; EVA
Asterisk 604874 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY G, MEMBER 1; KLRG1 MAST CELL FUNCTION-ASSOCIATED ANTIGEN, RAT, HOMOLOG OF; MAFA;; MAFA-LIKE; MAFAL
Asterisk 604875 MYOSIN IXA; MYO9A
Asterisk 604876 REGULATOR OF CALCINEURIN 2; RCAN2 THYROID HORMONE-RESPONSIVE GENE ZAKI4; ZAKI4;; DOWN SYNDROME CANDIDATE REGION 1-LIKE 1; DSCR1L1;; MYOCYTE-ENRICHED CALCINEURIN-INTERACTING PROTEIN 2; MCIP2;; CALCIPRESSIN 2; CSP2
Asterisk 604877 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN F; MAFF
Asterisk 604878 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 6; SLC12A6 POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3 POTASSIUM-CHLORIDE COTRANSPORTER 3, ISOFORM A, INCLUDED; KCC3A, INCLUDED;; POTASSIUM-CHLORIDE COTRANSPORTER 3, ISOFORM B, INCLUDED; KCC3B, INCLUDED
Asterisk 604879 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 7; SLC12A7 POTASSIUM-CHLORIDE COTRANSPORTER 4; KCC4
Caret 604880 MOVED TO 300609
Asterisk 604881 RABPHILIN 3A-LIKE; RPH3AL NOC2
Asterisk 604882 NEUROGENIN 3; NEUROG3 NGN3;; ATOH5
Asterisk 604883 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 2; GTF3C2 TRANSCRIPTION FACTOR IIIC, BETA SUBUNIT;; TFIIIC-BETA;; TFIIIC, 110-KD SUBUNIT
Asterisk 604884 NEVER IN MITOSIS GENE A-RELATED KINASE 6; NEK6 NIMA-RELATED KINASE 6
Asterisk 604885 MYB-BINDING PROTEIN 1A; MYBBP1A P160
Asterisk 604886 ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 8; EMC8 ER MEMBRANE PROTEIN COMPLEX, SUBUNIT 8;; COX4, NEIGHBOR OF; NOC4
Asterisk 604887 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 2; MTHFD2 METHYLENETETRAHYDROFOLATE DEHYDROGENASE/METHENYLTETRAHYDROFOLATE CYCLOHYDROLASE, NAD(+)-DEPENDENT
Asterisk 604888 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 3; GTF3C3 TRANSCRIPTION FACTOR IIIC, 102-KD SUBUNIT; TFIIIC102
Asterisk 604889 NEUROBEACHIN; NBEA FRAGILE SITE FRA13A, INCLUDED
Asterisk 604890 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 5; GTF3C5 TRANSCRIPTION FACTOR IIIC, 63-KD SUBUNIT; TFIIIC63
Asterisk 604891 NCK-ASSOCIATED PROTEIN 1; NCKAP1 NAP1;; NCK-ASSOCIATED PROTEIN, 125-KD; NAP125
Asterisk 604892 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 4; GTF3C4 TRANSCRIPTION FACTOR IIIC, 90-KD SUBUNIT; TFIIIC90
Asterisk 604893 ANTISENSE IGF2R RNA, NONCODING; AIRN ANTISENSE IGF2R RNA; AIR
Asterisk 604894 ONE CUT HOMEOBOX 2; ONECUT2 ONE CUT DOMAIN, FAMILY MEMBER 2; OC2
Asterisk 604895 T-BOX 21; TBX21 T-BOX EXPRESSED IN T CELLS; TBET
Asterisk 604896 MKKS GENE; MKKS MKS;; BBS6 GENE; BBS6
Asterisk 604897 PREFOLDIN 1; PFDN1
Asterisk 604898 PREFOLDIN 4; PFDN4 C1
Asterisk 604899 PREFOLDIN 5; PFDN5 MM1
Asterisk 604900 DIACYLGLYCEROL O-ACYLTRANSFERASE 1; DGAT1 DGAT;; ACYL-CoA:DIACYLGLYCEROL ACYLTRANSFERASE;; ARGP1
Percent 604901 NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC
Asterisk 604902 BRF1 SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR; BRF1 BRF1, S. CEREVISIAE, HOMOLOG OF;; BRF;; TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, RNA POLYMERASE III, SUBUNIT 2; TAF3B2;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE III, 90-KD;; GENERAL TRANSCRIPTION FACTOR 3B, 90-KD SUBUNIT;; GTF3B, 90-KD SUBUNIT;; TRANSCRIPTION FACTOR IIIB, 90-KD SUBUNIT; TFIIIB90;; TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 3C, FORMERLY; TAF3C, FORMERLY
Asterisk 604903 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1A; TAF1A TBP-ASSOCIATED FACTOR, RNA POLYMERASE I, 48-KD; TAFI48;; SL1, 48-KD SUBUNIT
Asterisk 604904 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1B; TAF1B TBP-ASSOCIATED FACTOR, RNA POLYMERASE I, 63-KD; TAFI63;; SL1, 63-KD SUBUNIT
Asterisk 604905 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1C; TAF1C TBP-ASSOCIATED FACTOR, RNA POLYMERASE I, 110-KD; TAFI110;; SL1, 110-KD SUBUNIT
Number Sign 604906 SCHIZOPHRENIA 9; SCZD9 SCHIZOPHRENIA 9 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1q42-RELATED
Asterisk 604907 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B; TNFRSF13B TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR; TACI
Asterisk 604908 PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 1; PPP4R1 PP4R1
Asterisk 604909 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 2; CNOT2 NEGATIVE REGULATOR OF TRANSCRIPTION 2, S. CEREVISIAE, HOMOLOG OF; NOT2
Asterisk 604910 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 3; CNOT3 NEGATIVE REGULATOR OF TRANSCRIPTION 3, S. CEREVISIAE, HOMOLOG OF; NOT3
Asterisk 604911 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 4; CNOT4 NEGATIVE REGULATOR OF TRANSCRIPTION 4, S. CEREVISIAE, HOMOLOG OF; NOT4
Asterisk 604912 TAF2 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 150-KD; TAF2 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2B; TAF2B;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 150-KD; TAFII150;; COFACTOR OF INITIATOR FUNCTION, 150-KD SUBUNIT; CIF150
Asterisk 604913 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 7; CNOT7 CCR4-ASSOCIATED FACTOR 1; CAF1;; CARBON CATABOLITE REPRESSOR 4-ASSOCIATED FACTOR 1
Asterisk 604914 JUMONJI DOMAIN-CONTAINING PROTEIN 6; JMJD6 PHOSPHATIDYLSERINE RECEPTOR; PSR
Asterisk 604915 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 13; MAP3K13 LEUCINE ZIPPER-BEARING KINASE; LZK
NULL 604916 HYDRONEPHROSIS, CONGENITAL, WITH CLEFT PALATE, CHARACTERISTIC FACIES, HYPOTONIA, AND MENTAL RETARDATION OKAMOTO SYNDROME
Asterisk 604917 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 1; CNOT1 NEGATIVE REGULATOR OF TRANSCRIPTION 1, S. CEREVISIAE, HOMOLOG OF; NOT1
Asterisk 604918 PICCOLO, MOUSE, HOMOLOG OF; PCLO
NULL 604919 BECKER NEVUS SYNDROME
Caret 604920 MOVED TO 603218
Asterisk 604921 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 3; MAP4K3 MAPKKKK3;; GERMINAL CENTER KINASE-LIKE KINASE; GLK;; RAB8-INTERACTING PROTEIN-LIKE 1, FORMERLY; RAB8IPL1, FORMERLY
NULL 604922 CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA
Asterisk 604923 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 5; MAP4K5 MAPKKKK5
Asterisk 604924 PHOSPHORYLATED ADAPTOR FOR RNA EXPORT; PHAX RNA, U SMALL NUCLEAR, EXPORT ADAPTOR; RNUXA
Asterisk 604925 RAB ACCEPTOR 1; RABAC1 PRENYLATED RAB ACCEPTOR 1; PRA1;; PRA1 DOMAIN FAMILY, MEMBER 1; PRAF1;; YIP3, YEAST, HOMOLOG OF
Caret 604926 MOVED TO 300948
Asterisk 604927 C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; CTDP1 CTD OF POLR2A, PHOSPHATASE OF, SUBUNIT 1;; TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1; FCP1;; TFIIF-ASSOCIATING CTD PHOSPHATASE 1 TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1, ISOFORM A, INCLUDED; FCP1A, INCLUDED;; TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1, ISOFORM B, INCLUDED; FCP1B, INCLUDED
Number Sign 604928 WOLFRAM SYNDROME 2; WFS2
Caret 604929 MOVED TO 181350
Asterisk 604930 NCK ADAPTOR PROTEIN 2; NCK2 NONCATALYTIC REGION OF TYROSINE KINASE, BETA;; NCK-BETA;; GRB4
Number Sign 604931 CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1
Asterisk 604932 PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR GAMMA; PKIG
Asterisk 604933 MutY, E. COLI, HOMOLOG OF; MUTYH MYH
Asterisk 604934 TUBULIN-SPECIFIC CHAPERONE E; TBCE COFACTOR E
Asterisk 604935 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 2; DMRT2
Asterisk 604936 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 1; KIR2DL1 NK-ASSOCIATED TRANSCRIPT 1; NKAT1;; CD158A
Asterisk 604937 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 2; KIR2DL2 NK-ASSOCIATED TRANSCRIPT 6; NKAT6;; CD158B1
Asterisk 604938 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 3; KIR2DL3 NK-ASSOCIATED TRANSCRIPT 2; NKAT2;; P58;; CD158B2 NK-ASSOCIATED TRANSCRIPT 2A, INCLUDED; NKAT2A, INCLUDED;; NK-ASSOCIATED TRANSCRIPT 2B, INCLUDED; NKAT2B, INCLUDED;; NK-ASSOCIATED TRANSCRIPT 2delIg2, INCLUDED; NKAT2delIg2, INCLUDED
Asterisk 604939 PHOSPHOLIPASE A2 RECEPTOR 1; PLA2R1 PHOSPHOLIPASE A2 RECEPTOR, 180-KD;; PLA2R
Caret 604940 MOVED TO 601228
Asterisk 604941 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, ALPHA; PPP2R2A PR55-ALPHA;; B55-ALPHA
Asterisk 604942 SYNTAPHILIN; SNPH
Asterisk 604943 SOLUTE CARRIER FAMILY 26, MEMBER 5; SLC26A5 PRESTIN; PRES SLC26A5A, INCLUDED;; SLC26A5B, INCLUDED;; SLC26A5C, INCLUDED;; SLC26A5D, INCLUDED
Asterisk 604944 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-DOUBLE PRIME, ALPHA; PPP2R3A PR72, INCLUDED;; PR130, INCLUDED
Asterisk 604945 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 4; KIR2DL4 KIR103AS;; CD158D
Asterisk 604946 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC TAIL, 1; KIR3DL1 NK-ASSOCIATED TRANSCRIPT 3; NKAT3;; NKB1;; AMB11;; CD158E1 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, SHORT CYTOPLASMIC TAIL, 1, INCLUDED; KIR3DS1, INCLUDED;; NK-ASSOCIATED TRANSCRIPT 10, INCLUDED; NKAT10, INCLUDED;; CD158E2, INCLUDED;; NK-ASSOCIATED TRANSCRIPT 3delIg1, INCLUDED; NKAT3delIg1, INCLUDED
Asterisk 604947 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC TAIL, 2; KIR3DL2 NK-ASSOCIATED TRANSCRIPT 4; NKAT4;; CD158K NK-ASSOCIATED TRANSCRIPT 4A, INCLUDED; NKAT4A, INCLUDED;; NK-ASSOCIATED TRANSCRIPT 4B, INCLUDED; NKAT4B, INCLUDED
Asterisk 604948 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, BETA; GADD45B MYD118, MOUSE, HOMOLOG OF; MYD118
Asterisk 604949 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, GAMMA; GADD45G GADD-RELATED PROTEIN, 17-KD; GRP17;; OIG37, MOUSE, HOMOLOG OF
Asterisk 604950 PUTATIVE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PHTF1 PHTF
Asterisk 604951 6-PHOSPHOGLUCONOLACTONASE; PGLS 6PGL
Asterisk 604952 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 1; KIR2DS1 CD158H
Asterisk 604953 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 2; KIR2DS2 NK-ASSOCIATED TRANSCRIPT 5; NKAT5;; CD158J NK-ASSOCIATED TRANSCRIPT 5delIg1, INCLUDED; NKAT5delIg1, INCLUDED;; NK-ASSOCIATED TRANSCRIPT 5delIg1/Ig2, INCLUDED; NKAT5delIg1/Ig2, INCLUDED
Asterisk 604954 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 3; KIR2DS3 NK-ASSOCIATED TRANSCRIPT; NKAT7
Asterisk 604955 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 4; KIR2DS4 NK-ASSOCIATED TRANSCRIPT 8; NKAT8;; KKA3;; CD158I
Asterisk 604956 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 5; KIR2DS5 NK-ASSOCIATED TRANSCRIPT 9; NKAT9;; CD158G
Caret 604957 MOVED TO 604946
Asterisk 604958 ACTIN-LIKE 6A; ACTL6A BRG1-ASSOCIATED FACTOR, 53-KD; BAF53;; BAF53A;; ACTIN-RELATED PROTEIN, BETA;; ARPN-BETA
Asterisk 604959 PHORBOL-12-MYRISTATE-13-ACETATE-INDUCED PROTEIN 1; PMAIP1 PMA-INDUCED PROTEIN 1;; ATL-DERIVED PMA-RESPONSIVE GENE; APR;; NOXA
Asterisk 604960 PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS 2; PACSIN2
Asterisk 604961 PHOSPHODIESTERASE 11A; PDE11A PDE11A1 PDE11A2, INCLUDED;; PDE11A3, INCLUDED
Asterisk 604962 T-CELL RECEPTOR-ASSOCIATED TRANSMEMBRANE ADAPTOR 1; TRAT1 T-CELL ANTIGEN RECEPTOR-INTERACTING MOLECULE;; TCR-INTERACTING MOLECULE; TRIM
Asterisk 604963 PEPTIDOGLYCAN RECOGNITION PROTEIN 1; PGLYRP1 PGLYRP; PGRP;; PGRP, SHORT; PGRPS
Asterisk 604964 SHP2-INTERACTING TRANSMEMBRANE ADAPTOR PROTEIN 1; SIT1
Asterisk 604965 SERINE/THREONINE PROTEIN KINASE 4; STK4 MAMMALIAN STERILE 20-LIKE 1; MST1;; KINASE RESPONSIVE TO STRESS 2; KRS2
Number Sign 604966 PROTOCADHERIN-ALPHA GENE CLUSTER; PCDHA@ PCDH-ALPHA GENE CLUSTER; PCDHA
Number Sign 604967 PROTOCADHERIN-BETA GENE CLUSTER; PCDHB@ PCDH-BETA GENE CLUSTER; PCDHB
Number Sign 604968 PROTOCADHERIN-GAMMA GENE CLUSTER; PCDHG@ PCDH-GAMMA GENE CLUSTER; PCDHG
Asterisk 604969 SRC KINASE-ASSOCIATED PHOSPHOPROTEIN 1; SKAP1 SRC FAMILY-ASSOCIATED PHOSPHOPROTEIN 1; SCAP1;; SRC KINASE-ASSOCIATED PHOSPHOPROTEIN, 55-KD; SKAP55
Asterisk 604970 AURORA KINASE B; AURKB SERINE/THREONINE PROTEIN KINASE 12; STK12;; AURORA-RELATED KINASE 2; ARK2;; AURORA/IPL1-LIKE KINASE 2; AIK2;; AIM1, RAT, HOMOLOG OF; AIM1
Asterisk 604971 MYOD FAMILY INHIBITOR; MDFI
Asterisk 604972 ORIGIN RECOGNITION COMPLEX, SUBUNIT 3, S. CEREVISIAE, HOMOLOG OF; ORC3 ORC3-LIKE; ORC3L;; LATHEO, DROSOPHILA, HOMOLOG OF; LAT
Asterisk 604973 FICOLIN 3; FCN3 HAKATA ANTIGEN; HAKA1;; COLLAGEN/FIBRINOGEN DOMAIN-CONTAINING LECTIN 3 P35
Asterisk 604974 SRY-BOX 21; SOX21 SRY-RELATED HMG-BOX GENE 21;; SOX25
Asterisk 604975 SRY-BOX 5; SOX5 SRY-RELATED HMG-BOX GENE 5 LONG SOX5, INCLUDED;; L-SOX5, INCLUDED
Plus 604976 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-3; PRKAG3 GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED, INCLUDED
Asterisk 604977 SERINE/THREONINE PROTEIN KINASE 19; STK19 HLA-RP1
Asterisk 604978 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 5; CPSF5 PRECURSOR mRNA CLEAVAGE FACTOR Im, 25-KD SUBUNIT; CFIM25
Asterisk 604979 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 6; CPSF6 PRECURSOR mRNA CLEAVAGE FACTOR Im, 68-KD SUBUNIT; CFIM68
Asterisk 604980 GTPase-ACTIVATING PROTEIN, RAC, 1; RACGAP1 RAC GTPase-ACTIVATING PROTEIN 1;; RAC GTPase-ACTIVATING PROTEIN, MALE GERM CELL; MGCRACGAP;; CYK4, C. ELEGANS, HOMOLOG OF
Asterisk 604981 WW DOMAIN-CONTAINING BINDING PROTEIN 4; WBP4 FORMIN-BINDING PROTEIN 21; FBP21
Asterisk 604982 HPS1 GENE; HPS1 PALE EAR, MOUSE, HOMOLOG OF
Asterisk 604983 POLYMERASE, DNA, GAMMA-2; POLG2 POLG, ACCESSORY SUBUNIT;; POLG-BETA; POLGB
Asterisk 604984 SERINE/THREONINE PROTEIN KINASE 24; STK24 MAMMALIAN STERILE 20-LIKE 3; MST3 MAMMALIAN STERILE 20-LIKE 3, ISOFORM B, INCLUDED; MST3B, INCLUDED
Asterisk 604985 SPECTRIN, BETA, NONERYTHROCYTIC, 2; SPTBN2 SPECTRIN, BETA-III;; GLUTAMATE TRANSPORTER EAAT4-ASSOCIATED PROTEIN 41; GTRAP41
Asterisk 604986 BRCA1-ASSOCIATED PROTEIN; BRAP BRAP2;; IMPEDES MITOGENIC SIGNAL PROPAGATION; IMP
Asterisk 604987 C-TYPE LECTIN DOMAIN FAMILY 5, MEMBER A; CLEC5A LECTIN, C-TYPE, SUPERFAMILY MEMBER 5; CLECSF5;; MYELOID DAP12-ASSOCIATING LECTIN 1; MDL1
Asterisk 604988 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 2B1; SLCO2B1 ORGANIC ANION TRANSPORTER B; OATPB;; ORGANIC ANION TRANSPORTER 2B1; OATP2B1;; SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 9, FORMERLY; SLC21A9, FORMERLY
Asterisk 604989 SPONDIN 1; SPON1 F-SPONDIN, RAT, HOMOLOG OF;; KIAA0762
Asterisk 604990 SOLUTE CARRIER FAMILY 9, MEMBER 3, REGULATOR 1; SLC9A3R1 SODIUM/HYDROGEN EXCHANGER REGULATORY FACTOR 1; NHERF1;; ERM-BINDING PHOSPHOPROTEIN, 50-KD; EBP50
Asterisk 604991 PROSTATE ANDROGEN-REGULATED TRANSCRIPT 1; PART1
Asterisk 604992 SARCALUMENIN; SRL
Asterisk 604993 PRECURSOR mRNA-PROCESSING FACTOR 18, S. CEREVISIAE, HOMOLOG OF; PRPF18 PRP18
Asterisk 604994 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2; SIX2
Asterisk 604995 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 7; SLC22A7 ORGANIC ANION TRANSPORTER 2; OAT2
Asterisk 604996 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 3; FXYD3 PHOSPHOLEMMAN-LIKE; PLML;; MAMMARY TUMOR, 8-KD; MAT8
Asterisk 604997 DOCKING PROTEIN 2; DOK2 DOCKING PROTEIN, 56-KD;; p56DOK
Asterisk 604998 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I; CAMK1 CAMKI
Asterisk 604999 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 1; SHANK1 SOMATOSTATIN RECEPTOR-INTERACTING PROTEIN; SSTRIP
Asterisk 605000 CORONIN 1A; CORO1A CORONIN 1;; CORONIN-LIKE PROTEIN A; CLIPINA;; TRYPTOPHANE ASPARTATE-CONTAINING COAT PROTEIN; TACO
Asterisk 605001 ANGIOPOIETIN-LIKE 2; ANGPTL2 ANGIOPOIETIN-RELATED PROTEIN 2; ARP2
Asterisk 605002 CORONIN 2B; CORO2B CORONIN-LIKE PROTEIN C; CLIPINC
Asterisk 605003 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 6; SENP6 SUMO1-SPECIFIC PROTEASE 1; SUSP1; SSP1 SUSP1/TCBA1 FUSION GENE, INCLUDED
Asterisk 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B
Asterisk 605005 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 7; GALNT7 GalNAc TRANSFERASE 7; GalNAcT7
Asterisk 605006 FREQUENTLY REARRANGED IN ADVANCED T-CELL LYMPHOMAS 2; FRAT2
Asterisk 605007 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 5; ADAMTS5 AGGRECANASE 2;; ADAMTS11, FORMERLY
Asterisk 605008 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 6; ADAMTS6
Asterisk 605009 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 7; ADAMTS7
Asterisk 605010 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5; SPINK5 LYMPHOEPITHELIAL KAZAL-TYPE-RELATED INHIBITOR; LEKTI
Asterisk 605011 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 3; ADAMTS3
Asterisk 605012 SUPPRESSOR OF TY 16, S. CEREVISIAE, HOMOLOG OF; SUPT16H CHROMATIN-SPECIFIC TRANSCRIPTION ELONGATION FACTOR, 140-KD SUBUNIT;; FACT, 140-KD SUBUNIT;; SPT16, S. CEREVISIAE, HOMOLOG OF
Number Sign 605013 MICROHYDRANENCEPHALY; MHAC HYDRANENCEPHALY AND MICROCEPHALY
Asterisk 605014 SYNTAXIN 11; STX11
Asterisk 605015 ZINC FINGER PROTEIN 214; ZNF214
Asterisk 605016 ZINC FINGER PROTEIN 215; ZNF215
Asterisk 605017 PRE-B-LYMPHOCYTE GENE 3; VPREB3
Asterisk 605018 CYLD GENE; CYLD CYLD1;; KIAA0849
Number Sign 605019 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2 HYPOLIPIDEMIA, FAMILIAL, COMBINED
Asterisk 605020 VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF; VSX1 RETINAL INNER NUCLEAR LAYER HOMEOBOX; RINX
Number Sign 605021 MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME EIM
Asterisk 605022 p21 PROTEIN-ACTIVATED KINASE 2; PAK2 p21 CDC42/RAC1-ACTIVATED KINASE 1;; p21-ACTIVATED KINASE, 65-KD; PAK65
Asterisk 605023 HYDROXYACID OXIDASE 1; HAO1 HAOX1;; GLYCOLATE OXIDASE 1; GOX1;; GOX
Asterisk 605024 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 8; SLC4A8 KIAA0739;; KNBC3
Asterisk 605025 INTEGRIN, ALPHA-3; ITGA3 CD49C;; VERY LATE ACTIVATION PROTEIN 3 RECEPTOR, ALPHA-3 SUBUNIT; VLA3;; GALACTOPROTEIN B3; GAPB3
NULL 605026 DIABETES MELLITUS, CONGENITAL AUTOIMMUNE
Number Sign 605027 LYMPHOMA, NON-HODGKIN, FAMILIAL NON-HODGKIN LYMPHOMA; NHL
NULL 605028 LOW DENSITY LIPOPROTEIN CHOLESTEROL, MILD ELEVATION OF LDLC, MILD ELEVATION OF
Asterisk 605029 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY F, MEMBER 1; KLRF1 NKp80;; C-TYPE LECTIN DOMAIN FAMILY 5, MEMBER C; CLEC5C
Asterisk 605030 SERINE/THREONINE PROTEIN KINASE 3; STK3 MAMMALIAN STERILE 20-LIKE 2; MST2;; KINASE RESPONSIVE TO STRESS 1; KRS1
Asterisk 605031 POLO-LIKE KINASE 4; PLK4 SERINE/THREONINE PROTEIN KINASE 18; STK18;; SAK, MOUSE, HOMOLOG OF; SAK
Asterisk 605032 COMPLEXIN 1; CPLX1 CPX1;; SYNAPHIN 2
Asterisk 605033 COMPLEXIN 2; CPLX2 CPX2;; SYNAPHIN 1
Asterisk 605034 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 23, YEAST, HOMOLOG OF; TIMM23 TIM23
Asterisk 605035 WAS PROTEIN FAMILY, MEMBER 1; WASF1 WASP FAMILY, MEMBER 1;; WASP FAMILY, VERPROLIN HOMOLOGY DOMAIN-CONTAINING PROTEIN; WAVE;; WASP FAMILY, VERPROLIN HOMOLOGY DOMAIN-CONTAINING PROTEIN 1; WAVE1;; SCAR, DICTYOSTELIUM, HOMOLOG OF, 1; SCAR1
Asterisk 605036 ZINC FINGER PROTEIN 219; ZNF219
Asterisk 605037 KINESIN FAMILY MEMBER 17; KIF17 KIAA1405
Asterisk 605038 POSTMEIOTIC SEGREGATION INCREASED 2-LIKE 1; PMS2L1 PMS3
Number Sign 605039 BOHRING-OPITZ SYNDROME; BOPS C-LIKE SYNDROME;; OPITZ TRIGONOCEPHALY-LIKE SYNDROME;; BOHRING SYNDROME
NULL 605040 CLAVICULAR HYPOPLASIA, ZYGOMATIC ARCH HYPOPLASIA, AND MICROGNATHIA CHZAM
Number Sign 605041 BROOKE-SPIEGLER SYNDROME; BRSS BSS;; SPIEGLER-BROOKE SYNDROME; SBS
Asterisk 605042 MEDIATOR COMPLEX SUBUNIT 23; MED23 COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 3; CRSP3;; CRSP, 130-KD SUBUNIT; CRSP130;; DRIP130;; SUR2
Asterisk 605043 MEDIATOR COMPLEX SUBUNIT 26; MED26 COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 7; CRSP7;; CRSP, 70-KD SUBUNIT; CRSP70
Asterisk 605044 MEDIATOR COMPLEX SUBUNIT 27; MED27 TRAP/SMCC/PC2 SUBUNIT p37; TRAP37;; COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 8; CRSP8;; CRSP, 34-KD SUBUNIT; CRSP34
Asterisk 605045 MEDIATOR COMPLEX SUBUNIT 7; MED7 COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 9; CRSP9;; CRSP, 33-KD SUBUNIT; CRSP33
Asterisk 605046 UBIQUILIN 1; UBQLN1 DA41, RAT, HOMOLOG OF; DA41;; PLIC1, MOUSE, HOMOLOG OF; PLIC1;; UBQN, DROSOPHILA, HOMOLOG OF; UBQN
Asterisk 605047 INTERFERON REGULATORY FACTOR 7; IRF7 IRF7A IRF7B, INCLUDED;; IRF7C, INCLUDED;; IRF7H, INCLUDED
Asterisk 605048 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE OF, EPSILON; IKBKE I-KAPPA-B KINASE-EPSILON; IKKE;; IKK-EPSILON;; INDUCIBLE I-KAPPA-B KINASE; IKKI;; KIAA0151
Asterisk 605049 TWISTED GASTRULATION HOMOLOG 1; TWSG1 TSG
Caret 605050 MOVED TO 142750
Asterisk 605051 CANNABINOID RECEPTOR 2; CNR2 CB2 RECEPTOR; CB2;; CX5
Asterisk 605052 TAR RNA-BINDING PROTEIN 1; TARBP1 TRP185
Asterisk 605053 TAR RNA-BINDING PROTEIN 2; TARBP2 TRBP;; LOQUACIOUS, DROSOPHILA, HOMOLOG OF; LOQS
Asterisk 605054 SMALL EDRK-RICH FACTOR 2; SERF2 H4F5REL
Percent 605055 ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND PRION PATHOLOGY
Asterisk 605056 WAS GENE-LIKE; WASL N-WASP; NWASP
Asterisk 605057 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 17, YEAST, HOMOLOG OF, A; TIMM17A TIM17A;; TIM17
Asterisk 605058 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 44, YEAST, HOMOLOG OF; TIMM44 TIM44
Caret 605059 MOVED TO 123930
Asterisk 605060 SEDOHEPTULOKINASE; SHPK SHK;; CARBOHYDRATE KINASE-LIKE; CARKL
Asterisk 605061 TERF2-INTERACTING PROTEIN; TERF2IP TRF2-INTERACTING TELOMERIC PROTEIN;; RAP1, YEAST, HOMOLOG OF; RAP1
Asterisk 605062 TASTE RECEPTOR, TYPE 2, MEMBER 5; TAS2R5 T2R5
Asterisk 605063 STRESS-INDUCED PHOSPHOPROTEIN 1; STIP1 STI1, YEAST, HOMOLOG OF;; HSP70/HSP90-ORGANIZING PROTEIN; HOP
Asterisk 605064 KINESIN FAMILY MEMBER 23; KIF23 KINESIN-LIKE 5; KNSL5;; MITOTIC KINESIN-LIKE 1; MKLP1;; ZEN4, C. ELEGANS, HOMOLOG OF
Asterisk 605065 CELL DIVISION CYCLE 37, S. CEREVISIAE, HOMOLOG OF; CDC37
Asterisk 605066 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, EPSILON ISOFORM; YWHAE 14-3-3 PROTEIN, EPSILON ISOFORM;; 14-3-3-EPSILON
NULL 605067 TRICUSPID ATRESIA
Asterisk 605068 WAS PROTEIN FAMILY, MEMBER 3; WASF3 WASP FAMILY, MEMBER 3;; WASP FAMILY, VERPROLIN HOMOLOGY DOMAIN-CONTAINING PROTEIN 3; WAVE3;; SCAR, DICTYOSTELIUM, HOMOLOG OF, 3; SCAR3
Asterisk 605069 MITOGEN-ACTIVATED PROTEIN KINASE-INTERACTING SERINE/THREONINE KINASE 2; MKNK2 MAPK-INTERACTING KINASE 2; MNK2;; G PROTEIN-COUPLED RECEPTOR KINASE 7, FORMERLY; GPRK7, FORMERLY MKNK2A, INCLUDED;; MKNK2B, INCLUDED
Asterisk 605070 EARLY ENDOSOME ANTIGEN 1; EEA1 EARLY ENDOSOME ANTIGEN, 162-KD
Asterisk 605071 REGULATOR OF G PROTEIN SIGNALING 19; RGS19 G PROTEIN, ALPHA-INTERACTING PROTEIN; GAIP
Asterisk 605072 GIPC PDZ DOMAIN-CONTAINING FAMILY, MEMBER 1; GIPC1 GAIP C-TERMINUS-INTERACTING PROTEIN 1;; GIPC;; RGS19-INTERACTING PROTEIN 1; RGS19IP1;; CHROMOSOME 19 OPEN READING FRAME 3; C19ORF3;; GLUT1 C-TERMINUS-BINDING PROTEIN; GLUT1CBP;; SYNECTIN
Asterisk 605073 TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37 MULIBREY NANISM GENE; MUL;; KIAA0898
Number Sign 605074 RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
Caret 605075 MOVED TO 605074
Asterisk 605076 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 2; SNAPC2 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, 45-KD SUBUNIT; SNAP45;; PSE-BINDING TRANSCRIPTION FACTOR, DELTA;; PTF-DELTA
Asterisk 605077 DNMT1-ASSOCIATED PROTEIN 1; DNMAP1 DNA METHYLTRANSFERASE 1-ASSOCIATED PROTEIN 1; DMAP1
Asterisk 605078 TAR DNA-BINDING PROTEIN; TARDBP TAR DNA-BINDING PROTEIN, 43-KD; TDP43
Asterisk 605079 SAL-LIKE 3; SALL3
Asterisk 605080 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3
Asterisk 605081 CYTOHESIN 3; CYTH3 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 3; PSCD3;; ARF NUCLEOTIDE-BINDING SITE OPENER 3; ARNO3;; GRP1, MOUSE, HOMOLOG OF; GRP1
Asterisk 605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1 RASSF1A
Asterisk 605083 FRIZZLED-RELATED PROTEIN; FRZB FRIZZLED-RELATED PROTEIN 1; FRZB1;; SECRETED FRIZZLED-RELATED PROTEIN 3; SFRP3
Asterisk 605084 MITOCHONDRIAL CALCIUM UPTAKE PROTEIN 1; MICU1 CALCIUM-BINDING ATOPY-RELATED AUTOANTIGEN 1; CBARA1
Asterisk 605085 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 1; TREM1
Asterisk 605086 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; TREM2
Asterisk 605087 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS K PROTEIN; PIGK GPI8, YEAST, HOMOLOG OF; GPI8
Asterisk 605088 MAJOR VAULT PROTEIN, RAT, HOMOLOG OF; MVP LUNG RESISTANCE-RELATED PROTEIN; LRP
Asterisk 605089 MITOCHONDRIAL RIBOSOMAL PROTEIN L40; MRPL40 NUCLEAR LOCALIZATION SIGNAL DELETED IN VELOCARDIOFACIAL SYNDROME; NLVCF;; MRPL22
Asterisk 605090 RETINOIC ACID RECEPTOR RESPONDER 1; RARRES1 TAZAROTENE-INDUCED GENE 1; TIG1
Asterisk 605091 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 2; FGD2 FGD1 FAMILY, MEMBER 2
Asterisk 605092 RETINOIC ACID RECEPTOR RESPONDER 3; RARRES3 TAZAROTENE-INDUCED GENE 3; TIG3;; RETINOID-INDUCIBLE GENE 1; RIG1
Asterisk 605093 SH2B ADAPTOR PROTEIN 3; SH2B3 LYMPHOCYTE ADAPTOR PROTEIN; LNK
Asterisk 605094 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 2; STEAP2 SIX-TRANSMEMBRANE PROTEIN OF PROSTATE 1; STAMP1;; PROSTATE CANCER-ASSOCIATED PROTEIN 1; PCANAP1;; IPCA1
Asterisk 605095 PROSTATE CANCER-ASSOCIATED PROTEIN 2; PCANAP2 IPCA2
Asterisk 605096 ANOCTAMIN 7; ANO7 TRANSMEMBRANE PROTEIN 16G; TMEM16G;; PROSTATE CANCER-ASSOCIATED PROTEIN 5; PCANAP5;; IPCA5;; DRESDEN TRANSMEMBRANE PROTEIN OF PROSTATE; DTMPP;; NOVEL GENE EXPRESSED IN PROSTATE; NGEP
Asterisk 605097 SOLUTE CARRIER FAMILY 45, MEMBER 3; SLC45A3 PROSTATE CANCER-ASSOCIATED PROTEIN 6; PCANAP6;; PROSTEIN; PRST;; IPCA6
Caret 605098 MOVED TO 604146
Asterisk 605099 PROSTATE CANCER-ASSOCIATED PROTEIN 8; PCANAP8 IPCA8
Asterisk 605100 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1D; PPM1D PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1D;; PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, DELTA ISOFORM;; WILDTYPE p53-INDUCED PHOSPHATASE 1; WIP1
Asterisk 605101 TAK1-BINDING PROTEIN 2; TAB2 TGF-BETA-ACTIVATED KINASE 1/MAP3K7-BINDING PROTEIN 2;; TAK1/MAP3K7-BINDING PROTEIN 2;; MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN 2; MAP3K7IP2;; KIAA0733
Asterisk 605102 MANNAN-BINDING LECTIN SERINE PROTEASE 2; MASP2 MAP19, INCLUDED
Asterisk 605103 NEUROMEDIN U; NMU
Asterisk 605104 RNA-BINDING PROTEIN FOX1, C. ELEGANS, HOMOLOG OF, 1; RBFOX1 ATAXIN 2-BINDING PROTEIN 1; A2BP1;; FOX1;; HRNBP1
NULL 605105 EARLY RESPONSE TO NEURAL INDUCTION GENE ERNI
Asterisk 605106 LYSOPHOSPHATIDIC ACID RECEPTOR 3; LPAR3 ENDOTHELIAL DIFFERENTIATION GENE 7; EDG7;; LPA RECEPTOR EDG7;; LPA3
Asterisk 605107 ENDOTHELIAL DIFFERENTIATION-RELATED FACTOR 1; EDF1
Asterisk 605108 NEUROMEDIN U RECEPTOR 2; NMUR2 NMU2R;; GROWTH HORMONE SECRETAGOGUE RECEPTOR FAMILY, MEMBER 4; FM4
Asterisk 605109 HECT DOMAIN AND RCC1-LIKE DOMAIN 1; HERC1 P532
Asterisk 605110 LYSOPHOSPHATIDIC ACID RECEPTOR 2; LPAR2 LPA2;; ENDOTHELIAL DIFFERENTIATION GENE 4; EDG4;; LYSOPHOSPHATIDIC ACID RECEPTOR EDG4;; LPA RECEPTOR EDG4
Asterisk 605111 SPHINGOSINE-1-PHOSPHATE RECEPTOR 2; S1PR2 ENDOTHELIAL DIFFERENTIATION GENE 5; EDG5;; S1P RECEPTOR 2; S1P2
Asterisk 605112 TROPOMODULIN 3; TMOD3 TROPOMODULIN, UBIQUITOUS; UTMOD TMOD3/CYP19A1 FUSION GENE, INCLUDED
Asterisk 605113 ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE; AASS
Asterisk 605114 SPO11, S. CEREVISIAE, HOMOLOG OF; SPO11 TOPOISOMERASE VI-A; TOPOVIA
Number Sign 605115 HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY
Asterisk 605116 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 9; CHRNA9 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-9 SUBUNIT
Asterisk 605117 SUPPRESSOR OF CYTOKINE SIGNALING 2; SOCS2 STAT-INDUCED STAT INHIBITOR 2; SSI2; STATI2;; CYTOKINE-INDUCIBLE SH2 PROTEIN 2; CIS2
Asterisk 605118 SUPPRESSOR OF CYTOKINE SIGNALING 6; SOCS6 STAT-INDUCED STAT INHIBITOR 4; SSI4; STAI4;; CYTOKINE-INDUCIBLE SH2 PROTEIN 4; CIS4;; SUPPRESSOR OF CYTOKINE SIGNALING 4, FORMERLY; SOCS4, FORMERLY
Asterisk 605119 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1G; PPM1G PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1G;; PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, GAMMA ISOFORM;; PROTEIN PHOSPHATASE 2C, GAMMA ISOFORM; PP2CG;; PP2C-GAMMA
Asterisk 605120 GROWTH/DIFFERENTIATION FACTOR 2; GDF2 BONE MORPHOGENETIC PROTEIN 9; BMP9
Asterisk 605121 RRN3, S. CEREVISIAE, HOMOLOG OF; RRN3 RNA POLYMERASE I TRANSCRIPTION FACTOR RRN3;; TRANSCRIPTION INITIATION FACTOR IA; TIFIA
Asterisk 605122 SUV3-LIKE 1; SUPV3L1 S. CEREVISIAE SUPPRESSOR OF VAR1 3-LIKE 1
Asterisk 605123 SERINE PROTEASE INHIBITOR, KUNITZ-TYPE, 1; SPINT1 HEPATOCYTE GROWTH FACTOR ACTIVATOR INHIBITOR; HAI
Asterisk 605124 SERINE PROTEASE INHIBITOR, KUNITZ-TYPE, 2; SPINT2 HEPATOCYTE GROWTH FACTOR ACTIVATOR INHIBITOR 2; HAI2;; BIKUNIN, PLACENTAL
Asterisk 605125 GABA-A RECEPTOR-ASSOCIATED PROTEIN; GABARAP
Asterisk 605126 FOUR-AND-A-HALF LIM DOMAINS 5; FHL5 ACTIVATOR OF CREM IN TESTIS; ACT
Asterisk 605127 OPTICIN; OPTC
Asterisk 605128 GUANYLATE CYCLASE ACTIVATOR 1C; GUCA1C GUANYLATE CYCLASE-ACTIVATING PROTEIN, PHOTORECEPTOR 3; GCAP3
Asterisk 605129 PROTEASOME ACTIVATOR SUBUNIT 3; PSME3 PROTEASOME ACTIVATOR 28-GAMMA; PA28G;; PA28-GAMMA;; REG-GAMMA;; KI ANTIGEN
Number Sign 605130 WIEDEMANN-STEINER SYNDROME; WDSTS HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL DELAY
Asterisk 605131 WW DOMAIN-CONTAINING OXIDOREDUCTASE; WWOX FRAGILE SITE FRA16D OXIDOREDUCTASE; FOR;; WOX1 FRAGILE SITE 16q23.2, INCLUDED; FRA16D, INCLUDED
Asterisk 605132 TRANSDUCIN-LIKE ENHANCER OF SPLIT 4; TLE4 ENHANCER OF SPLIT GROUCHO 4; ESG4;; GROUCHO-RELATED GENE 4; GRG4
Asterisk 605133 NUCLEAR CAP-BINDING PROTEIN 2; NCBP2 NUCLEAR CAP-BINDING PROTEIN, 20-KD;; CAP-BINDING PROTEIN, 20-KD; CBP20;; NUCLEAR CAP-BINDING PROTEIN-INTERACTING PROTEIN 1; NIP1
Asterisk 605134 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, CYTOPLASMIC, 1; PITPNC1 RETINAL DEGENERATION GENE B, DROSOPHILA, HOMOLOG OF, BETA; RDGBB
Caret 605135 MOVED TO 172100
Caret 605136 MOVED TO 604974
Caret 605137 MOVED TO 601297
Asterisk 605138 ORNITHINE DECARBOXYLASE ANTIZYME 3; OAZ3 ANTIZYME 3; AZ3
Asterisk 605139 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 2; CCT2 CHAPERONIN CONTAINING TCP1, SUBUNIT 2;; CCT-BETA; CCTB
Asterisk 605140 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 7; CCT7 CHAPERONIN CONTAINING TCP1, SUBUNIT 7;; CCT-ETA; CCTH
Asterisk 605141 PRE-B-LYMPHOCYTE GENE 1; VPREB1 VPREB; IGVPB;; IMMUNOGLOBULIN IOTA POLYPEPTIDE CHAIN; IGI
Asterisk 605142 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 4; CCT4 CHAPERONIN CONTAINING TCP1, SUBUNIT 4;; CCT-DELTA; CCTD;; STIMULATOR OF TAR RNA-BINDING PROTEINS; SRB
Asterisk 605143 ACTIN-RELATED PROTEIN 1A; ACTR1A ARP1;; CENTRACTIN, ALPHA
Asterisk 605144 ACTIN-RELATED PROTEIN 1B; ACTR1B ARP1B;; CENTRACTIN, BETA;; CTRN2
Asterisk 605145 ANK, MOUSE, HOMOLOG OF; ANKH HANK
Asterisk 605146 SPHINGOSINE-1-PHOSPHATE RECEPTOR 5; S1PR5 ENDOTHELIAL DIFFERENTIATION GENE 8; EDG8;; S1P RECEPTOR 5; S1P5
Asterisk 605147 LEUKOCYTE CELL-DERIVED CHEMOTAXIN 1; LECT1 CHONDROMODULIN I; CHM1 CHONDROMODULIN I PRECURSOR, INCLUDED
Asterisk 605148 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 6; GALNT6 GalNAc TRANSFERASE 6; GalNAcT6
Asterisk 605149 CHEMOKINE, CXC MOTIF, LIGAND 13; CXCL13 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 13; SCYB13;; B CELL-ATTRACTING CHEMOKINE 1; BCA1;; B-LYMPHOCYTE CHEMOATTRACTANT; BLC
Caret 605150 MOVED TO 601297
Caret 605151 MOVED TO 604747
Asterisk 605152 COILED-COIL DOMAIN-CONTAINING PROTEIN 19; CCDC19 NASOPHARYNGEAL EPITHELIUM-SPECIFIC PROTEIN 1; NESG1
Asterisk 605153 RECEPTOR ACTIVITY-MODIFYING PROTEIN 1; RAMP1
Asterisk 605154 RECEPTOR ACTIVITY-MODIFYING PROTEIN 2; RAMP2
Asterisk 605155 RECEPTOR ACTIVITY-MODIFYING PROTEIN 3; RAMP3
Caret 605156 MOVED TO 259600
Asterisk 605157 p53-RESPONSIVE GENE 1 PRG1
Asterisk 605158 PEROXIDASIN, DROSOPHILA, HOMOLOG OF; PXDN PXN;; p53-RESPONSIVE GENE 2; PRG2;; VASCULAR PEROXIDASE 1; VPO1;; MELANOMA-ASSOCIATED GENE 50; MG50;; D2S448
Asterisk 605159 APOPTOSIS-INDUCING FACTOR, MITOCHONDRIA-ASSOCIATED, 2; AIFM2 p53-RESPONSIVE GENE 3; PRG3
Asterisk 605160 p53-RESPONSIVE GENE 4 PRG4;; FLJ36000
Asterisk 605161 WAP 4-DISULFIDE CORE DOMAIN 5; WFDC5 p53-RESPONSIVE GENE 5; PRG5;; WHEY ACIDIC PROTEIN 1; WAP1
Asterisk 605162 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GADD45G-INTERACTING PROTEIN; GADD45GIP1 p53-RESPONSIVE GENE 6; PRG6;; CR6-INTERACTING FACTOR 1; CRIF1
Asterisk 605163 CHEMOKINE, CXC MOTIF, RECEPTOR 6; CXCR6 G PROTEIN-COUPLED RECEPTOR STRL33; STRL33;; BONZO
Asterisk 605164 HISTONE DEACETYLASE 2; HDAC2 YY1-ASSOCIATED FACTOR 1; YAF1
Asterisk 605165 ZINC FINGER PROTEIN 278; ZNF278 POZ-, AT HOOK-, AND ZINC FINGER-CONTAINING PROTEIN; PATZ;; MAZ-RELATED FACTOR; MAZR;; ZINC FINGER SARCOMA GENE; ZSG ZNF278/EWS FUSION GENE, INCLUDED;; ZNF278/UQCRH FUSION GENE, INCLUDED
Asterisk 605166 HISTONE DEACETYLASE 3; HDAC3
Asterisk 605167 B MELANOMA ANTIGEN; BAGE BAGE FAMILY, MEMBER 1; BAGE1
Asterisk 605168 FATTY ACID-BINDING PROTEIN 5; FABP5 FATTY ACID-BINDING PROTEIN, PSORIASIS-ASSOCIATED; PAFABP;; FATTY ACID-BINDING PROTEIN, EPIDERMAL; EFABP
Asterisk 605169 E74-LIKE FACTOR 5; ELF5 EPITHELIUM-SPECIFIC ETS FACTOR 2; ESE2
Asterisk 605170 ETOPOSIDE-INDUCED 1.4 mRNA; EI24 EI24, MOUSE, HOMOLOG OF;; p53-INDUCED GENE 8; PIG8
Asterisk 605171 TUMOR PROTEIN p53-INDUCIBLE PROTEIN 3; TP53I3 p53-INDUCED GENE 3; PIG3
Asterisk 605172 PROSTAGLANDIN E SYNTHASE; PTGES PGES;; PROSTAGLANDIN E SYNTHASE, MICROSOMAL; MPGES;; p53-INDUCED GENE 12; PIG12;; MGST1-LIKE 1; MGST1L1
Asterisk 605173 ECTODERMAL-NEURAL CORTEX 1; ENC1 p53-INDUCED GENE 10; PIG10;; NUCLEAR RESTRICTED PROTEIN/BRAIN; NRPB
Asterisk 605174 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 1; ADAMTS1 METH1
Asterisk 605175 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 8; ADAMTS8 METH2
Asterisk 605176 HYDROXYACID OXIDASE 2; HAO2 HAOX2;; HYDROXYACID OXIDASE, LONG-CHAIN
Caret 605177 REMOVED FROM DATABASE
Asterisk 605178 GROWTH ARREST-SPECIFIC 8; GAS8 GROWTH ARREST-SPECIFIC 11, FORMERLY; GAS11, FORMERLY
Asterisk 605179 GAS8 ANTISENSE RNA 1, NONCODING; GAS8AS1 CHROMOSOME 16 OPEN READING FRAME 3; C16ORF3
Asterisk 605180 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 2; SLC38A2 AMINO ACID TRANSPORTER A2; ATA2;; SODIUM-DEPENDENT NEUTRAL AMINO ACID TRANSPORTER 2; SNAT2
Asterisk 605181 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 3; TM7SF3
Asterisk 605182 RAS p21 PROTEIN ACTIVATOR 3; RASA3 GTPase-ACTIVATING PROTEIN 1 FAMILY, INOSITOL 1,3,4,5-TETRAKISPHOSPHATE-BINDING PROTEIN;; GAP1(IP4BP)
Asterisk 605183 CALMODULIN-LIKE 5; CALML5 CALMODULIN-LIKE SKIN PROTEIN; CLSP
Asterisk 605184 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 1; PAIP1 POLY(A)-BINDING PROTEIN-INTERACTING PROTEIN 1;; PABP-INTERACTING PROTEIN 1
Asterisk 605185 DELTA-LIKE 4; DLL4
Asterisk 605186 WNT INHIBITORY FACTOR 1; WIF1
Asterisk 605187 G PROTEIN-COUPLED RECEPTOR 27; GPR27 SUPERCONSERVED RECEPTOR EXPRESSED IN BRAIN 1; SREB1
Asterisk 605188 G PROTEIN-COUPLED RECEPTOR 85; GPR85 SUPERCONSERVED RECEPTOR EXPRESSED IN BRAIN 2; SREB2
Asterisk 605189 DICKKOPF, XENOPUS, HOMOLOG OF, 1; DKK1
Asterisk 605190 TRANSLOCATION-ASSOCIATING MEMBRANE PROTEIN 1; TRAM1
Asterisk 605191 BTAF1 RNA POLYMERASE II, B-TFIID TRANSCRIPTION FACTOR-ASSOCIATED, 170-KD; BTAF1 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, RNA POLYMERASE II, 170-KD;; TAFII170;; TAF172;; MOT1, YEAST, HOMOLOG OF
Number Sign 605192 DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23
Asterisk 605193 DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 3; DIRAS3 DISTINCT SUBGROUP OF THE RAS FAMILY, MEMBER 3;; RAS HOMOLOG GENE FAMILY, MEMBER I; ARHI
Asterisk 605194 CRYPTIC PROTEIN; CFC1 CRYPTIC, MOUSE, HOMOLOG OF;; CRYPTIC
Asterisk 605195 MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 2; MESP2 MESODERM POSTERIOR PROTEIN 2
Asterisk 605196 COQ3, S. CEREVISIAE, HOMOLOG OF; COQ3 METHYLTRANSFERASE COQ3
Asterisk 605197 KYNURENINASE; KYNU L-KYNURENINE HYDROLASE
Asterisk 605198 POLY(A) POLYMERASE-ASSOCIATED DOMAIN-CONTAINING PROTEIN 7; PAPD7 PAP-ASSOCIATED DOMAIN-CONTAINING PROTEIN 7;; POLYMERASE, DNA, SIGMA; POLS;; TOPOISOMERASE-RELATED FUNCTION PROTEIN 4-1;; TRF4, S. CEREVISIAE, HOMOLOG OF; TRF4
Asterisk 605199 SPLICING FACTOR, PROLINE- AND GLUTAMINE-RICH; SFPQ POLYPYRIMIDINE TRACT-BINDING PROTEIN-ASSOCIATED SPLICING FACTOR; PSF;; PTB-ASSOCIATED SPLICING FACTOR SFPQ/TFE3 FUSION GENE, INCLUDED
Asterisk 605200 HECT DOMAIN AND RCC1-LIKE DOMAIN 3; HERC3
Percent 605201 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 14; HDLCQ14
Asterisk 605202 N-ACETYLNEURAMINIC ACID PHOSPHATE SYNTHASE; NANS SIALIC ACID SYNTHASE; SAS
Caret 605203 MOVED TO 263650
Asterisk 605204 TORSIN 1A; TOR1A DYT1 GENE
Asterisk 605205 ADENYLATE CYCLASE 10; ADCY10 SOLUBLE ADENYLYL CYCLASE; SAC;; ADENYLYL CYCLASE, SOLUBLE
Asterisk 605206 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 4; HCN4
Asterisk 605207 CYTOCHROME P450, SUBFAMILY XXVIB, POLYPEPTIDE 1; CYP26B1 CYTOCHROME P450, SUBFAMILY XXVIA, POLYPEPTIDE 2; CYP26A2;; P450, RETINOIC ACID-INACTIVATING, 2; P450RAI2
Asterisk 605208 SOLUTE CARRIER FAMILY 17 (VESICULAR GLUTAMATE COTRANSPORTER), MEMBER 7; SLC17A7 SOLUTE CARRIER FAMILY 17 (SODIUM-DEPENDENT INORGANIC PHOSPHATE COTRANSPORTER), MEMBER 7;; SODIUM-DEPENDENT INORGANIC PHOSPHATE COTRANSPORTER, BRAIN;; BRAIN SODIUM-DEPENDENT INORGANIC PHOSPHATE COTRANSPORTER; BNPI;; VESICULAR GLUTAMATE TRANSPORTER 1; VGLUT1
Asterisk 605209 CHECKPOINT PROTEIN WITH FHA AND RING FINGER DOMAINS; CHFR
Asterisk 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1
Asterisk 605211 BARH-LIKE 1; BARHL1
Asterisk 605212 BARH-LIKE 2; BARHL2
Asterisk 605213 3-PHOSPHOINOSITIDE-DEPENDENT PROTEIN KINASE 1; PDPK1 PDK1
Asterisk 605214 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 2; KCNMB2
Asterisk 605215 SRC KINASE-ASSOCIATED PHOSPHOPROTEIN 2; SKAP2 SKAP55-RELATED PROTEIN; SKAP55R
Asterisk 605216 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4; ARHGEF4 APC-STIMULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR; ASEF;; ASEF1
Asterisk 605217 SHC TRANSFORMING PROTEIN 2; SHC2 SHC PROTEIN B; SHCB;; SHC-LIKE PROTEIN SCK; SCK;; SHC ADAPTOR HOMOLOG, NEURONAL
Number Sign 605218 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2
Asterisk 605219 DIRECT IAP-BINDING PROTEIN WITH LOW pI; DIABLO SECOND MITOCHONDRIA-DERIVED ACTIVATOR OF CASPASE; SMAC
Asterisk 605220 APOLIPOPROTEIN B RECEPTOR; APOBR APOLIPOPROTEIN B48 RECEPTOR; APOB48R
Asterisk 605221 SPLICING FACTOR, SERINE/ARGININE-RICH, 10; SRSF10 SERINE/ARGININE-RICH SPLICING FACTOR 10;; FUS-INTERACTING PROTEIN 1; FUSIP1;; TLS-ASSOCIATED PROTEIN WITH SERINE-ARGININE REPEATS; TASR;; SPLICING FACTOR, ARGININE/SERINE-RICH, 38-KD; SRp38;; SR REPRESSOR PROTEIN, 40-KD; SRRp40;; NEURAL-SALIENT SR-RICH PROTEIN; NSSR;; SPLICING FACTOR, ARGININE/SERINE-RICH, 13A; SFRS13A TLS-ASSOCIATED PROTEIN WITH SERINE-ARGININE REPEATS, ISOFORM 1, INCLUDED; TASR1, INCLUDED;; TLS-ASSOCIATED PROTEIN WITH SERINE-ARGININE REPEATS, ISOFORM 2, INCLUDED; TASR2, INCLUDED
Asterisk 605222 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 3; KCNMB3
Asterisk 605223 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 4; KCNMB4
Asterisk 605224 RHODOPSIN HOMOLOG, RETINAL PIGMENT EPITHELIUM-DERIVED; RRH RHODOPSIN HOMOLOG, RPE-DERIVED;; PEROPSIN
Percent 605225 INFLAMMATORY BOWEL DISEASE 7; IBD7
Asterisk 605226 RE REPEATS-ENCODING GENE; RERE ARGININE-GLUTAMIC ACID REPEATS-ENCODING GENE;; ATROPHIN 1-ASSOCIATED PROTEIN;; ATROPHIN-RELATED PROTEIN;; ATROPHIN 2
Asterisk 605227 REVERSION-INDUCING CYSTEINE-RICH PROTEIN WITH KAZAL MOTIFS; RECK SUPPRESSOR OF TUMORIGENICITY 15; ST15
Asterisk 605228 COREPRESSOR INTERACTING WITH RBPJ, 1; CIR1 CBF1-INTERACTING COREPRESSOR; CIR
Percent 605229 SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14
Asterisk 605230 TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1 53BP1
Number Sign 605231 BARDET-BIEDL SYNDROME 6; BBS6
Asterisk 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1 PROSTATE-DERIVED STERILE 20-LIKE KINASE; PSK;; PRKWNK1;; KDP;; KIAA0344 WNK1/HSN2 ISOFORM, INCLUDED
Percent 605233 DIANZANI AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE DALD
Asterisk 605234 VOMERONASAL 1 RECEPTOR 1; VN1R1 V1R-LIKE 1; V1RL1;; VOMERONASAL RECEPTOR 1;; V3R-RELATED GENE;; VNR19I1;; ZVNH1;; ZVNR1
Asterisk 605235 NUCLEOLAR PROTEIN 3; NOL3 NOP APOPTOSIS REPRESSOR WITH CARD DOMAIN, INCLUDED; ARC, INCLUDED;; NUCLEOLAR PROTEIN, 30-KD, INCLUDED; NOP30, INCLUDED;; MUSCLE-ENRICHED CYTOSOLIC PROTEIN, INCLUDED; MYP, INCLUDED
Asterisk 605236 CORIN, SERINE PEPTIDASE; CORIN CRN;; TRANSMEMBRANE PROTEASE, SERINE 10; TMPRSS10;; ATC2;; PRO-ANP-CONVERTING ENZYME
Asterisk 605237 XENOTROPIC AND POLYTROPIC RETROVIRUS RECEPTOR; XPR1 X RECEPTOR;; SYG1, YEAST, HOMOLOG OF; SYG1
Asterisk 605238 HISTAMINE N-METHYLTRANSFERASE; HNMT
Asterisk 605239 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A, ISOFORM 4; ATP6V0A4 ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN 1B; ATP6N1B;; ATP6N2;; VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2
Asterisk 605240 CHEMOKINE, CC MOTIF, LIGAND 28; CCL28
Asterisk 605241 LYMPHOCYTE ANTIGEN 86; LY86 MD1 PROTEIN; MD1
Asterisk 605242 USH1C GENE; USH1C HARMONIN;; PDZ DOMAIN-CONTAINING PROTEIN, 73-KD; PDZ73
Asterisk 605243 LYMPHOCYTE ANTIGEN 96; LY96 MD2 PROTEIN; MD2
Percent 605244 CARNEY COMPLEX, TYPE 2; CNC2 CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2
Asterisk 605245 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 8; SLC2A8 GLUCOSE TRANSPORTER 8; GLUT8;; GLUCOSE TRANSPORTER X1
Asterisk 605246 COMPLEMENT COMPONENT 3a RECEPTOR 1; C3AR1 C3AR
Asterisk 605247 LEUCINE-RICH REPEATS- AND DEATH DOMAIN-CONTAINING PROTEIN; LRDD p53-INDUCED PROTEIN WITH DEATH DOMAIN; PIDD
Asterisk 605248 MUCOLIPIN 1; MCOLN1 ML4 GENE;; MUCOLIPIDIN;; TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, MUCOLIPIN SUBFAMILY, MEMBER 1; TRPML1
Number Sign 605249 SEBASTIAN SYNDROME; SBS SEBASTIAN PLATELET SYNDROME;; MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS
Asterisk 605250 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 4; ABCC4 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 4; MRP4;; MULTISPECIFIC ORGANIC ANION TRANSPORTER B; MOATB
Asterisk 605251 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 5; ABCC5 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 5; MRP5;; MOATC
Asterisk 605252 POLYMERASE, DNA, IOTA; POLI RAD30, S. CEREVISIAE, HOMOLOG OF, B; RAD30B
Number Sign 605253 NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE; CHN HYPOMYELINATION, SEVERE CONGENITAL;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 4E; CMT4E;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4E NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT, INCLUDED
Asterisk 605254 NICASTRIN; NCSTN ANTERIOR PHARYNX DEFECTIVE 2, C. ELEGANS, HOMOLOG OF; APH2
Asterisk 605255 ETS VARIANT GENE 7; ETV7 ETS TRANSCRIPTION FACTOR TEL2; TEL2;; TELB
Asterisk 605256 RAD18, S. CEREVISIAE, HOMOLOG OF; RAD18
Asterisk 605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA AID
Number Sign 605258 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2 HYPER-IgM SYNDROME 2
Number Sign 605259 SPINOCEREBELLAR ATAXIA 13; SCA13
Caret 605260 MOVED TO 145900
Asterisk 605261 NADPH OXIDASE 4; NOX4 RENAL NADPH OXIDASE; RENOX
Asterisk 605262 NMYC DOWNSTREAM-REGULATED GENE 1; NDRG1 PROTEIN REGULATED BY OXYGEN 1; PROXY1
Asterisk 605263 SHC TRANSFORMING PROTEIN 3; SHC3 SHC-LIKE PROTEIN, NEURONAL; NSHC;; SHC PROTEIN C; SHCC;; RAI
Asterisk 605264 SORBIN AND SH3-DOMAINS CONTAINING PROTEIN 1; SORBS1 SH3 DOMAIN PROTEIN 5; SH3D5;; CBL-ASSOCIATED PROTEIN; CAP;; SH3 DOMAIN-CONTAINING PROTEIN 12; SH3P12;; PONSIN;; SORB1
Asterisk 605265 APOPTOSIS AND CASPASE ACTIVATION INHIBITOR; AVEN CELL DEATH REGULATOR AVEN
Asterisk 605266 JUNCTOPHILIN 1; JPH1 JP1
Asterisk 605267 JUNCTOPHILIN 2; JPH2 JP2
Asterisk 605268 JUNCTOPHILIN 3; JPH3 JP3
Asterisk 605269 CORONIN 1C; CORO1C CORONIN 3, MOUSE, HOMOLOG OF
Asterisk 605270 N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH HEPARAN SULFATE SULFATASE; HSS;; SULFAMIDASE
Asterisk 605271 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 10; SERPINA10 REGENERATION-ASSOCIATED SERPIN 1; RASP1;; PROTEIN Z-DEPENDENT PROTEASE INHIBITOR PRECURSOR; ZPI
Asterisk 605272 NMYC DOWNSTREAM-REGULATED GENE 2; NDRG2 KIAA1248
Asterisk 605273 NMYC DOWNSTREAM-REGULATED GENE 3; NDRG3
NULL 605274 MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE MESOMELIC DYSPLASIA WITH ABSENT FIBULAS AND TRIANGULAR TIBIAS
NULL 605275 NOONAN SYNDROME 2; NS2 NOONAN SYNDROME, AUTOSOMAL RECESSIVE
Asterisk 605276 APOPTOSIS-ASSOCIATED TYROSINE KINASE; AATK AATYK
Asterisk 605277 GLUCOCORTICOID RECEPTOR DNA-BINDING FACTOR 1; GRLF1 p190A, RAT, HOMOLOG OF; p190A;; p190RHOGAP
Asterisk 605278 CARBOXYLESTERASE 2; CES2
Asterisk 605279 CARBOXYLESTERASE 3; CES3 ES31, MOUSE, HOMOLOG OF;; CES1D, MOUSE, HOMOLOG OF
Number Sign 605280 SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13
Asterisk 605281 DEAD/H BOX 4; DDX4 VASA, DROSOPHILA, HOMOLOG OF; VASA
Number Sign 605282 TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Asterisk 605283 MAGE-LIKE 2; MAGEL2 NECDIN-LIKE 1; NDNL1
Asterisk 605284 TSC1 GENE; TSC1 HAMARTIN
Number Sign 605285 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; HMSNR CHARCOT-MARIE-TOOTH DISEASE, TYPE 4G; CMT4G;; CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4G;; HEREDITARY MOTOR AND SENSORY NEUROPATHY, RUSSE TYPE;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G
Asterisk 605286 CALPAIN 10; CAPN10
Asterisk 605287 ARGINYL AMINOPEPTIDASE-LIKE 1; RNPEPL1 AMINOPEPTIDASE B-LIKE
Caret 605288 MOVED TO 273300
Number Sign 605289 SPLIT-HAND/FOOT MALFORMATION 4; SHFM4
Asterisk 605290 OPA1 GENE; OPA1 KIAA0567;; DYNAMIN-LIKE 120-KD PROTEIN, MITOCHONDRIAL
Caret 605291 MOVED TO 191720
Asterisk 605292 5-PRIME-NUCLEOTIDASE, MITOCHONDRIAL; NT5M DEOXYRIBONUCLEOTIDASE, MITOCHONDRIAL; DNT2
Percent 605293 OPTIC ATROPHY 4; OPA4
Asterisk 605294 CARBOHYDRATE SULFOTRANSFERASE 6; CHST6 CORNEAL N-ACETYLGLUCOSAMINE-6-SULFOTRANSFERASE;; CORNEAL GlcNAc-6-SULFOTRANSFERASE
Asterisk 605295 FIDGETIN; FIGN
Asterisk 605296 PROTEASOME ASSEMBLY CHAPERONE 1; PSMG1 PAC1;; DOWN SYNDROME CRITICAL REGION GENE 2; DSCR2;; CHROMOSOME 21 LEUCINE-RICH PROTEIN; C21LRP
Asterisk 605297 TH1-LIKE; TH1L TH1, DROSOPHILA, HOMOLOG OF; TH1 NEGATIVE ELONGATION FACTOR POLYPEPTIDE C, INCLUDED; NELFC, INCLUDED;; NEGATIVE ELONGATION FACTOR POLYPEPTIDE D, INCLUDED; NELFD, INCLUDED
Asterisk 605298 DOWN SYNDROME CRITICAL REGION GENE 3; DSCR3 DOWN SYNDROME CRITICAL REGION GENE A; DSCRA
Asterisk 605299 NUCLEAR RECEPTOR COACTIVATOR 6; NCOA6 THYROID HORMONE RECEPTOR-BINDING PROTEIN; TRBP;; NUCLEAR RECEPTOR-ACTIVATING PROTEIN, 250-KB; RAP250;; NUCLEAR RECEPTOR COACTIVATOR RAP250; NRC;; PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-INTERACTING PROTEIN; PRIP;; ACTIVATING SIGNAL COINTEGRATOR 2; ASC2;; AMPLIFIED IN BREAST CANCER 3; AIB3;; KIAA0181
Asterisk 605300 SH2B ADAPTOR PROTEIN 2; SH2B2 ADAPTOR PROTEIN CONTAINING PH AND SH2 DOMAINS; APS
Asterisk 605301 TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 1; TACC1 TACC1/FGFR1 FUSION GENE, INCLUDED
Asterisk 605302 TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 2; TACC2
Asterisk 605303 TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 3; TACC3 TACC3/FGFR3 FUSION GENE, INCLUDED
Asterisk 605304 NEUROGLOBIN; NGB
Asterisk 605305 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 5A; KIR2DL5A CD158F;; KIR2DL5
Asterisk 605306 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER A; CLEC4A LECTIN, C-TYPE, SUPERFAMILY MEMBER 6; CLECSF6;; DENDRITIC CELL IMMUNORECEPTOR; DCIR;; LECTIN-LIKE IMMUNORECEPTOR; LLIR
Asterisk 605307 ADRENOMEDULLIN RECEPTOR; ADMR AMR
Asterisk 605308 ZINC FINGER PROTEIN 346; ZNF346 DOUBLE-STRANDED RNA-BINDING ZINC FINGER PROTEIN;; JUST ANOTHER ZINC FINGER PROTEIN; JAZ
Number Sign 605309 MACROCEPHALY/AUTISM SYNDROME
Asterisk 605310 COILED-COIL ALPHA-HELICAL ROD PROTEIN 1; CCHCR1 ALPHA-HELIX COILED-COIL ROD HOMOLOG; HCR;; C6ORF18
Caret 605311 MOVED TO 601776
Asterisk 605312 GROWTH/DIFFERENTIATION FACTOR 15; GDF15 BONE MORPHOGENETIC PROTEIN, PLACENTA; PLAB;; PROSTATE-DERIVED FACTOR; PDF;; MACROPHAGE-INHIBITING CYTOKINE 1; MIC1
Asterisk 605313 RNA-BINDING MOTIF PROTEIN 8A; RBM8A RNA-BINDING MOTIF PROTEIN 8; RBM8;; Y14
Asterisk 605314 HISTONE DEACETYLASE 4; HDAC4 HDACA
Asterisk 605315 HISTONE DEACETYLASE 5; HDAC5
Caret 605316 MOVED TO 601072
Asterisk 605317 FORKHEAD BOX P2; FOXP2 TRINUCLEOTIDE REPEAT-CONTAINING GENE 10; TNRC10;; CAGH44
Caret 605318 MOVED TO 600833
Asterisk 605319 6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 3; PFKFB3 PFKFB, PLACENTAL;; PFK2, INDUCIBLE; IPFK2
Asterisk 605320 6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 4; PFKFB4 PFKFB, TESTIS
NULL 605321 FRONTOOCULAR SYNDROME
Asterisk 605322 WAP 4-DISULFIDE CORE DOMAIN 1; WFDC1 PROSTATE STROMAL PROTEIN, 20-KD, RAT, HOMOLOG OF; PS20
Asterisk 605323 C-TERMINAL DOMAIN OF RNA POLYMERASE II POLYPEPTIDE A, SMALL PHOSPHATASE OF, 1; CTDSP1 CTD SMALL PHOSPHATASE 1;; SMALL CTD PHOSPHATASE 1; SCP1;; NUCLEAR LIM INTERACTOR-INTERACTING FACTOR; NLIIF
Asterisk 605324 AMYLOID BETA PRECURSOR PROTEIN-BINDING PROTEIN 2; APPBP2 PROTEIN INTERACTING WITH APP TAIL 1; PAT1
Asterisk 605325 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 5; CYP3A5 P450PCN3
Asterisk 605326 TAX1-BINDING PROTEIN 1; TAX1BP1 HUMAN T-CELL LEUKEMIA VIRUS TYPE 1-BINDING PROTEIN;; TXBP151;; TRAF6-INTERACTING PROTEIN; T6BP
Asterisk 605327 NUCLEAR FACTOR, INTERLEUKIN 3-REGULATED; NFIL3 NFIL3A;; E4BP4
Asterisk 605328 KRUPPEL-LIKE FACTOR 13; KLF13 RANTES FACTOR OF LATE-ACTIVATED T LYMPHOCYTES 1; RFLAT1;; FKLF2
Caret 605329 MOVED TO 605205
Asterisk 605330 INTERLEUKIN 22; IL22 INTERLEUKIN 10-RELATED T CELL-DERIVED INDUCIBLE FACTOR; ILTIF
Asterisk 605331 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 3; EPB41L3 DIFFERENTIALLY EXPRESSED IN ADENOCARCINOMA OF THE LUNG; DAL1;; NONERYTHROID PROTEIN 4.1, BRAIN TYPE; 4.1B
Asterisk 605332 KELCH-LIKE 1; KLHL1
Asterisk 605333 PDS5, REGULATOR OF COHESION MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, B; PDS5B ANDROGEN-INDUCED PROSTATE PROLIFERATIVE SHUTOFF-ASSOCIATED PROTEIN;; APRIN;; AS3
Caret 605334 MOVED TO 300290
Asterisk 605335 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 1; PHLDA1 T CELL DEATH-ASSOCIATED GENE 51; TDAG51
Asterisk 605336 COMPLEMENT FACTOR H-RELATED 3; CFHR3 FACTOR H-RELATED GENE 3; FHR3;; H FACTOR-LIKE 4; HLF4;; CFHL3
Asterisk 605337 COMPLEMENT FACTOR H-RELATED 4; CFHR4 FACTOR H-RELATED GENE 4; FHR4;; CFHL4 FHR-4A, INCLUDED;; FHR-4B, INCLUDED
Asterisk 605338 INTERNEXIN, ALPHA; INA NEUROFILAMENT, 66-KD; NF66;; NEUROFILAMENT PROTEIN 5; NEF5
Asterisk 605339 FMR1 AUTOSOMAL HOMOLOG 2; FXR2 FRAGILE X-RELATED PROTEIN 2; FXR2P;; FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 2
Asterisk 605340 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 7; CYP3A7
Asterisk 605341 PAIRED IMMUNOGLOBULIN-LIKE TYPE 2 RECEPTOR, ALPHA; PILRA
Asterisk 605342 PAIRED IMMUNOGLOBULIN-LIKE TYPE 2 RECEPTOR, BETA; PILRB
Asterisk 605343 FOLLISTATIN-LIKE 3; FSTL3 FOLLISTATIN-RELATED GENE; FLRG
Asterisk 605344 NUCLEAR TRANSCRIPTION FACTOR Y, GAMMA; NFYC TRANSCRIPTION FACTOR NF-Y, C SUBUNIT;; CCAAT-BINDING FACTOR, C SUBUNIT; CBFC
Asterisk 605345 AlkB, E. COLI, HOMOLOG OF, 1; ALKBH1 ABH1;; ABH
Caret 605346 MOVED TO 176730
Asterisk 605347 PEPTIDYLARGININE DEIMINASE, TYPE IV; PADI4 PAD4;; PEPTIDYLARGININE DEIMINASE V; PADI5;; PROTEIN-ARGININE DEIMINASE; PAD
Asterisk 605348 TRANSMEMBRANE PROTEIN 50A; TMEM50A SMALL MEMBRANE PROTEIN 1; SMP1
Asterisk 605349 NUCLEAR PRELAMIN A RECOGNITION FACTOR; NARF IOP2
Asterisk 605350 INTERLEUKIN 27 RECEPTOR, ALPHA; IL27RA INTERLEUKIN 27 RECEPTOR; IL27R;; T-CELL CYTOKINE RECEPTOR; TCCR;; WSX1
Asterisk 605351 FIBRINOGEN-LIKE 2; FGL2 FIBROLEUKIN
Asterisk 605352 MALIGNANT FIBROUS HISTIOCYTOMA-AMPLIFIED SEQUENCE 1; MFHAS1 MALIGNANT FIBROUS HISTIOCYTOMA-AMPLIFIED SEQUENCES WITH LEUCINE-RICH TANDEM REPEATS 1; MASL1
Asterisk 605353 GHRELIN; GHRL GROWTH HORMONE SECRETAGOGUE RECEPTOR LIGAND;; MOTILIN-RELATED PEPTIDE OBESTATIN, INCLUDED
Asterisk 605354 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 18; CARD18 CASPASE 1 INHIBITOR;; ICEBERG
Number Sign 605355 NEMALINE MYOPATHY 5; NEM5 NEMALINE MYOPATHY, AMISH TYPE; ANM;; AMISH NEMALINE MYOPATHY
Asterisk 605356 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, GAMMA ISOFORM; YWHAG 14-3-3-GAMMA
Asterisk 605357 STONIN 1; STON1 STN1;; STONED B-LIKE FACTOR; SBLF STONED B/TFIIA-ALPHA/BETA-LIKE FACTOR, INCLUDED; SALF, INCLUDED;; STON1/ALF SPLICED READ-THROUGH TRANSCRIPT, INCLUDED
Asterisk 605358 GENERAL TRANSCRIPTION FACTOR IIA, 1-LIKE; GTF2A1L TFIIA-ALPHA/BETA-LIKE FACTOR; ALF
Asterisk 605359 PROLINE-RICH 4; PROL4 LACRIMAL PROLINE-RICH PROTEIN; LPRP
Asterisk 605360 COILED-COIL DOMAIN-CONTAINING PROTEIN 85B; CCDC85B DELTA ANTIGEN-INTERACTING PROTEIN A; DIPA;; HEPATITIS DELTA ANTIGEN-INTERACTING PROTEIN A
Number Sign 605361 SPINOCEREBELLAR ATAXIA 14; SCA14
Number Sign 605362 CARDIOMYOPATHY, DILATED, 1J; CMD1J CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT
Asterisk 605363 GLUTAMATE DECARBOXYLASE 1; GAD1 GAD;; GLUTAMATE DECARBOXYLASE, BRAIN, 67-KD; GAD67
Percent 605364 PSORIASIS 6, SUSCEPTIBILITY TO; PSORS6
Caret 605365 MOVED TO 114480
Asterisk 605366 OLFACTOMEDIN 1; OLFM1 NOELIN 1;; NEUROBLASTOMA PROTEIN;; AMY
Asterisk 605367 ELAC, E. COLI, HOMOLOG OF, 2; ELAC2 HPC2;; RIBONUCLEASE Z, LONG FORM;; RNase ZL
Asterisk 605368 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 3-LIKE; BNIP3L NIX
Asterisk 605369 TRANSMEMBRANE PROTEASE, SERINE 11D; TMPRSS11D AIRWAY TRYPSIN-LIKE PROTEASE;; HAT
Asterisk 605370 RHO GTPase-ACTIVATING PROTEIN 26; ARHGAP26 GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;; KIAA0621 GRAF/MLL FUSION GENE, INCLUDED
Asterisk 605371 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARFGEF2 BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE EXCHANGE PROTEIN 2; BIG2
Asterisk 605372 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A3; HNRNPA3 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN-LIKE;; HNRPA3;; FBRNP;; D10S102
Number Sign 605373 PARAGANGLIOMAS 3; PGL3 GLOMUS TUMORS, FAMILIAL, 3
Asterisk 605374 MYCN, OPPOSITE STRAND; MYCNOS DNA-BINDING TRANSCRIPTIONAL ACTIVATOR NCYM; NYCM
Number Sign 605375 EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3
Number Sign 605376 HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2 HTX
Asterisk 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK DM KINASE; DMK;; DM PROTEIN KINASE;; MYOTONIN-PROTEIN KINASE
Asterisk 605378 AAAS GENE; AAAS ALADIN;; ADRACALIN
Asterisk 605379 GIGAXONIN; GAN GAN1
Asterisk 605380 FIBROBLAST GROWTH FACTOR 23; FGF23
Asterisk 605381 RHESUS BLOOD GROUP, C GLYCOPROTEIN; RHCG RHESUS BLOOD GROUP-ASSOCIATED KIDNEY HOMOLOG;; RH-RELATED GLYCOPROTEIN RhGK; RHGK
Caret 605382 MOVED TO 167320
Asterisk 605383 INTERLEUKIN 21 RECEPTOR; IL21R IL21R/BCL6 FUSION GENE, INCLUDED
Asterisk 605384 INTERLEUKIN 21; IL21
Asterisk 605385 PRENYL PROTEIN PROTEASE RCE1; RCE1
Asterisk 605386 MICRO RNA LET7A1; MIRLET7A1 MIRNLET7A1;; LET7, C. ELEGANS, HOMOLOG OF, A1;; miRNA LET7A1;; LET7A1;; LET7A1, SMALL TEMPORAL RNA;; LET7A1, stRNA
Number Sign 605387 CATARACT 31, MULTIPLE TYPES; CTRCT31 CATARACT, POSTERIOR POLAR, 3; CTPP3; CPP3
Percent 605388 CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE ACP;; ATAXIC CEREBRAL PALSY
Number Sign 605389 HYPOTRICHOSIS 1; HYPT1 HYPOTRICHOSIS SIMPLEX, GENERALIZED, HEREDITARY; HHS;; HTS
Asterisk 605390 LEUPAXIN; LPXN
Asterisk 605391 MULTIPLE INOSITOL POLYPHOSPHATE PHOSPHATASE 1; MINPP1 MIPP, RAT, HOMOLOG OF;; HIPER1, CHICKEN, HOMOLOG OF
Asterisk 605392 FIBROBLAST GROWTH FACTOR RECEPTOR 1 ONCOGENE PARTNER; FGFR1OP FGFR1 ONCOGENE PARTNER; FOP FOP/FGFR1 FUSION GENE, INCLUDED
Asterisk 605393 LYSINE-SPECIFIC DEMETHYLASE 5B; KDM5B JUMONJI, AT-RICH INTERACTIVE DOMAIN 1B; JARID1B;; PUTATIVE DNA/CHROMATIN-BINDING MOTIF 1;; PUT1;; PLU1;; RETINOBLASTOMA-BINDING PROTEIN 2, HOMOLOG 1A; RBBP2H1A
Asterisk 605394 BTB AND CNC HOMOLOGY 2; BACH2 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR 2
Asterisk 605395 TRANSMEMBRANE p24 TRAFFICKING PROTEIN 1; TMED1 TRANSMEMBRANE EMP24 TRANSPORT DOMAIN-CONTAINING PROTEIN 1;; INTERLEUKIN 1 RECEPTOR-LIKE 1 LIGAND; IL1RL1LG;; IL1RL1-BINDING PROTEIN
Caret 605396 MOVED TO 604686
Asterisk 605397 CD226 ANTIGEN; CD226 DNAX ACCESSORY MOLECULE 1; DNAM1
Asterisk 605398 CHEMOKINE, CXC MOTIF, LIGAND 16; CXCL16 SRPSOX
Asterisk 605399 NIDOGEN 2; NID2 OSTEONIDOGEN
NULL 605400 FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS AND MENTAL RETARDATION
Asterisk 605401 IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 2; IQGAP2
Asterisk 605402 CD274 MOLECULE; CD274 PROGRAMMED CELL DEATH 1 LIGAND 1; PDCD1LG1;; PDCD1 LIGAND 1; PDCD1L1;; PROGRAMMED DEATH LIGAND 1; PDL1;; B7 HOMOLOG 1; B7H1
Asterisk 605403 TOLL-LIKE RECEPTOR 6; TLR6
Asterisk 605404 BCL2-RELATED OVARIAN KILLER; BOK BCL2-LIKE 9; BCL2L9
Asterisk 605405 USP6 N-TERMINAL-LIKE; USP6NL RELATED TO THE N TERMINUS OF TRE; RNTRE
Asterisk 605406 TRANSMEMBRANE p24 TRAFFICKING PROTEIN 10; TMED10 TRANSMEMBRANE EMP24 TRANSPORT DOMAIN-CONTAINING PROTEIN 10;; TRANSMEMBRANE TRAFFICKING PROTEIN, 21-KD; TMP21
Number Sign 605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE PARKINSONISM, INFANTILE, AUTOSOMAL RECESSIVE;; DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL RECESSIVE;; DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL RECESSIVE;; TYROSINE HYDROXYLASE DEFICIENCY
Caret 605408 MOVED TO 159900
Asterisk 605409 TRANSCRIPTION ELONGATION REGULATOR 1; TCERG1 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2S; TAF2S;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 150-KD;; TRANSCRIPTION FACTOR CA150; CA150
Asterisk 605410 POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 2; KCND2 Kv4.2;; KIAA1044
Asterisk 605411 POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 3; KCND3 Kv4.3;; KCND3S KCND3L, INCLUDED
Asterisk 605412 RAB-LIKE 2A; RABL2A
Asterisk 605413 RAB-LIKE 2B; RABL2B
Asterisk 605414 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 7; ABCA7 ABCX;; SJOGREN SYNDROME ANTIGEN SS-N
Asterisk 605415 DICKKOPF, XENOPUS, HOMOLOG OF, 2; DKK2
Asterisk 605416 DICKKOPF, XENOPUS, HOMOLOG OF, 3; DKK3 REGULATED IN GLIOMA; RIG
Asterisk 605417 DICKKOPF, XENOPUS, HOMOLOG OF, 4; DKK4
Asterisk 605418 DICKKOPF-LIKE 1; DKKL1 SOGGY 1; SGY1;; SGY
Percent 605419 SCHIZOPHRENIA 10; SCZD10 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q15-RELATED;; CATATONIA, PERIODIC
Asterisk 605420 ARISTALESS-LIKE 4, MOUSE, HOMOLOG OF; ALX4
Asterisk 605421 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 9; ADAMTS9
Asterisk 605422 ZINC FINGER PROTEIN 350; ZNF350 ZINC FINGER AND BRCA1-INTERACTING PROTEIN WITH A KRAB DOMAIN 1; ZBRK1
Asterisk 605423 DESERT HEDGEHOG; DHH
Asterisk 605424 MASTERMIND-LIKE 1; MAML1 MASTERMIND, DROSOPHILA, HOMOLOG OF, 1; MAM1
Asterisk 605425 GAP JUNCTION PROTEIN, BETA-4; GJB4 CONNEXIN 30.3; CX30.3
Asterisk 605426 TUMOR PROTEIN p53-REGULATED APOPTOSIS-INDUCING PROTEIN 1; TP53AIP1 p53-REGULATED APOPTOSIS-INDUCING PROTEIN 1; P53AIP1
Asterisk 605427 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; TRPV4 VANILLOID RECEPTOR-RELATED OSMOTICALLY ACTIVATED CHANNEL; VROAC;; OSM9-LIKE TRANSIENT RECEPTOR POTENTIAL CHANNEL 4; OTRPC4;; TRANSIENT RECEPTOR POTENTIAL CHANNEL 12; TRP12;; TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 12
Percent 605428 DEAFNESS, AUTOSOMAL RECESSIVE 26; DFNB26
Percent 605429 DEAFNESS, NONSYNDROMIC, MODIFIER 1; DFNM1
Asterisk 605430 SPERM-ASSOCIATED ANTIGEN 9; SPAG9 SUNDAY DRIVER, DROSOPHILA, HOMOLOG OF, 1; SYD1;; PROTEIN HIGHLY EXPRESSED IN TESTIS; PHET;; KIAA0516
Asterisk 605431 MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 3; MAPK8IP3 SUNDAY DRIVER, DROSOPHILA, HOMOLOG OF, 2; SYD2;; JNK/STRESS-ACTIVATED PROTEIN KINASE-ASSOCIATED PROTEIN 1; JSAP1;; JNK-INTERACTING PROTEIN 3; JIP3
Number Sign 605432 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1; RUSAT1 RUSAT;; THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS; CTRUS
Asterisk 605433 KINESIN FAMILY MEMBER 13A; KIF13A
Asterisk 605434 CLASPIN, XENOPUS, HOMOLOG OF; CLSPN
Asterisk 605435 PROTEIN KINASE D1; PRKD1 PROTEIN KINASE C, MU; PRKCM;; PKC-MU;; PROTEIN KINASE D; PKD
Asterisk 605436 SMALL NUCLEOLAR RNA, C/D BOX, 116-1; SNORD116-1 PRADER-WILLI CRITICAL REGION GENE 1; PWCR1;; RNA, HBII-85 SMALL NUCLEOLAR snoRNA, HBII-85
Asterisk 605437 PROTEIN KINASE C, ETA; PRKCH PKCL; PRKCL
Asterisk 605438 DISCS LARGE-ASSOCIATED PROTEIN 2; DLGAP2 DAP2;; SAP90/PSD95-ASSOCIATED PROTEIN 2; SAPAP2
Asterisk 605439 ETS HOMOLOGOUS FACTOR; EHF EPITHELIUM-SPECIFIC ETS FACTOR 3; ESE3
Asterisk 605440 UBIQUILIN 4; UBQLN4 ATAXIN-1 UBIQUITIN-LIKE INTERACTING PROTEIN; A1U;; C1ORF6;; CONNEXIN 43-INTERACTING PROTEIN, 75-KD; CIP75
Asterisk 605441 ADIPOCYTE-, C1q-, AND COLLAGEN DOMAIN-CONTAINING; ADIPOQ ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1; APM1;; GELATIN-BINDING PROTEIN, 28-KD; GBP28;; ADIPONECTIN; ADPN;; ACRP30;; ADIPOCYTE-SPECIFIC SECRETORY PROTEIN;; ACDC
Asterisk 605442 WT1-ASSOCIATED PROTEIN; WTAP KIAA0105
Asterisk 605443 PROSTATE-SPECIFIC GENE PCGEM1; PCGEM1
Asterisk 605444 RNA-BINDING MOTIF PROTEIN, X CHROMOSOME, LIKE 2; RBMXL2 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN G-T;; HNRNPGT;; HNRPGT
Asterisk 605445 DISCS LARGE-ASSOCIATED PROTEIN 1; DLGAP1 DAP1;; GUANYLATE KINASE-ASSOCIATED PROTEIN; GKAP;; SAP90/PSD95-ASSOCIATED PROTEIN 1; SAPAP1 DISCS LARGE-ASSOCIATED PROTEIN 1, ALPHA ISOFORM, INCLUDED; DLGAP1A, INCLUDED; DAP1A, INCLUDED;; DISCS LARGE-ASSOCIATED PROTEIN 1, BETA ISOFORM, INCLUDED; DLGAP1B, INCLUDED; DAP1B, INCLUDED
Asterisk 605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1 RPGR-INTERACTING PROTEIN
Asterisk 605447 CHROMOSOME 6 OPEN READING FRAME 48; C6ORF48 G8 PROTEIN; G8
Asterisk 605448 RUN DOMAIN-CONTAINING PROTEIN 3A; RUNDC3A RAP2-INTERACTING PROTEIN 8; RPIP8
Asterisk 605449 GLUTATHIONE S-TRANSFERASE, ALPHA-3; GSTA3 GLUTATHIONE S-TRANSFERASE A3
Asterisk 605450 GLUTATHIONE S-TRANSFERASE, ALPHA-4; GSTA4 GLUTATHIONE S-TRANSFERASE A4
Asterisk 605451 p21 PROTEIN-ACTIVATED KINASE 4; PAK4 p21 CDC42/RAC1-ACTIVATED KINASE 4;; KIAA1142
Asterisk 605452 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 6; ABCB6 MITOCHONDRIAL ABC PROTEIN 3; MTABC3
Asterisk 605453 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 9; ABCB9
Asterisk 605454 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 10; ABCB10 MITOCHONDRIAL ABC PROTEIN 2; MABC2; MTABC2
Asterisk 605455 RAS-ASSOCIATED PROTEIN RAB26; RAB26
Asterisk 605456 BET1 GOLGI VESICULAR MEMBRANE-TRAFFICKING PROTEIN; BET1 BET1, S. CEREVISIAE, HOMOLOG OF;; GOLGI VESICULAR MEMBRANE-TRAFFICKING PROTEIN p18
Asterisk 605457 INTERLEUKIN 22 RECEPTOR, ALPHA-1; IL22RA1 IL22R1
Asterisk 605458 INTERLEUKIN 17 RECEPTOR B; IL17RB INTERLEUKIN 17B RECEPTOR; IL17BR;; INTERLEUKIN 17 RECEPTOR HOMOLOG 1; IL17RH1
Asterisk 605459 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 5; ABCG5 STEROLIN 1
Asterisk 605460 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8 STEROLIN 2
Asterisk 605461 INTERLEUKIN 17 RECEPTOR A; IL17RA IL17R
Percent 605462 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1 BASAL CELL CARCINOMA, NONSYNDROMIC, INCLUDED;; BASAL CELL CARCINOMA, MULTIPLE, INCLUDED
NULL 605463 RADIATION SENSITIVITY/CHROMOSOME INSTABILITY SYNDROME, AUTOSOMAL DOMINANT
Asterisk 605464 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8; ABCB8 MITOCHONDRIAL ATP-BINDING CASSETTE 1; MABC1
Asterisk 605465 ZINC FINGER PROTEIN 277; ZNF277
Asterisk 605466 SIGNAL REGULATORY PROTEIN, GAMMA; SIRPG SIRP-GAMMA;; SIGNAL REGULATORY PROTEIN, BETA-2; SIRPB2
Asterisk 605467 ZINC FINGER PROTEIN 274; ZNF274 ZINC FINGER PROTEIN 274, ISOFORM A, INCLUDED; ZNF274A, INCLUDED;; ZINC FINGER PROTEIN 274, ISOFORM B, INCLUDED; ZNF274B, INCLUDED
Asterisk 605468 CDC42 EFFECTOR PROTEIN 4; CDC42EP4 CEP4;; BINDER OF RHO GTPases 4; BORG4
Asterisk 605469 LYSINE-SPECIFIC DEMETHYLASE 4C; KDM4C JUMONJI DOMAIN-CONTAINING PROTEIN 2C; JMJD2C;; GENE AMPLIFIED IN SQUAMOUS CELL CARCINOMA 1; GASC1;; KIAA0780
Asterisk 605470 MATRIX METALLOPROTEINASE 26; MMP26 MATRILYSIN 2
Asterisk 605471 ZINC FINGER FYVE TYPE-CONTAINING PROTEIN 1; ZFYVE1 ZINC FINGER PROTEIN, SUBFAMILY 2A, MEMBER 1; ZNFN2A1;; DOUBLE FYVE-CONTAINING PROTEIN 1; DFCP1;; TANDEM FYVE FINGERS 1; TAFF1
Number Sign 605472 USHER SYNDROME, TYPE IIC; USH2C USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC, INCLUDED;; USHER SYNDROME, TYPE IIB, FORMERLY, INCLUDED; USH2B, FORMERLY, INCLUDED
Asterisk 605473 UBIQUILIN 3; UBQLN3
Asterisk 605474 TOLL-LIKE RECEPTOR 9; TLR9
Asterisk 605475 BAI1-ASSOCIATED PROTEIN 2; BAIAP2 INSULIN RECEPTOR SUBSTRATE p53; IRSP53
Asterisk 605476 ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 2; AGAP2 CENTAURIN, GAMMA-1; CENTG1;; PHOSPHOINOSITIDE 3-KINASE ENHANCER;; PI3K ENHANCER; PIKE;; KIAA0167
Asterisk 605477 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 7; ARHGEF7 PAK-INTERACTING EXCHANGE FACTOR, BETA; PIXB;; BETA-PIX;; COOL1;; KIAA0142
Asterisk 605478 SINGLE IMMUNOGLOBULIN DOMAIN-CONTAINING IL1R-RELATED PROTEIN; SIGIRR TOLL/IL1R 8; TIR8
Number Sign 605479 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2
Percent 605480 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 3; SLEB3
Asterisk 605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM ASP, DROSOPHILA, HOMOLOG OF;; MCPH5 GENE
Asterisk 605482 GLUTATHIONE S-TRANSFERASE, OMEGA-1; GSTO1
Asterisk 605483 DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 2; DNAI2
Asterisk 605484 Fc FRAGMENT OF IgA AND IgM, RECEPTOR FOR; FCAMR
Asterisk 605485 VACUOLAR PROTEIN SORTING 41, YEAST, HOMOLOG OF; VPS41
Caret 605486 MOVED TO 605313
Asterisk 605487 CYCLIC AMP-REGULATED PHOSPHOPROTEIN, 19-KD; ARPP19 cAMP-REGULATED PHOSPHOPROTEIN, 19-KD cAMP-REGULATED PHOSPHOPROTEIN, 16-KD, INCLUDED; ARPP16, INCLUDED
Asterisk 605488 CYCLIC AMP-REGULATED PHOSPHOPROTEIN, 21-KD; ARPP21 cAMP-REGULATED PHOSPHOPROTEIN, 21-KD;; REGULATOR OF CALMODULIN SIGNALING; RCS
Asterisk 605489 INTRAFLAGELLAR TRANSPORT 81, CHLAMYDOMONAS, HOMOLOG OF; IFT81 CARNITINE DEFICIENCY-ASSOCIATED GENE EXPRESSED IN VENTRICLE 1; CDV1 CDV1-RELATED, INCLUDED; CDV1R, INCLUDED
Asterisk 605490 LON PEPTIDASE 1, MITOCHONDRIAL; LONP1 LON, E. COLI, HOMOLOG OF; LON;; PROTEASE, SERINE, 15; PRSS15
Asterisk 605491 NEBULETTE; NEBL LIM-NEBULETTE, INCLUDED
Asterisk 605492 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 5; LRRN5 GLIOMA AMPLIFICATION ON CHROMOSOME 1; GAC1
Asterisk 605493 TRIPARTITE MOTIF-CONTAINING PROTEIN 3; TRIM3 RING FINGER PROTEIN 22; RNF22;; BRAIN-EXPRESSED RING FINGER; BERP
Asterisk 605494 INTEGRIN, BETA-3, BINDING PROTEIN OF; ITGB3BP ENDONEXIN, BETA-3 ENDONEXIN, BETA-3, LONG FORM, INCLUDED;; NUCLEAR RECEPTOR-INTERACTING FACTOR 3, INCLUDED; NRIF3, INCLUDED;; CENTROMERIC PROTEIN R, INCLUDED; CENPR, INCLUDED
Asterisk 605495 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B3; SLCO1B3 ORGANIC ANION TRANSPORTER 8; OATP8;; ORGANIC ANION TRANSPORTER 1B3; OATP1B3;; SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 8, FORMERLY; SLC21A8, FORMERLY
Asterisk 605496 CENTROSOMAL PROTEIN 1; CEP1 CEP110;; FAN CEP1/FGFR1 FUSION GENE, INCLUDED
Asterisk 605497 CARTILAGE-ASSOCIATED PROTEIN; CRTAP CASP;; LEPRECAN-LIKE 3; LEPREL3
Asterisk 605498 M-PHASE PHOSPHOPROTEIN 1; MPHOSPH1 MPP1;; KINESIN-RELATED MOTOR INTERACTING WITH PIN1; KRMP1
Asterisk 605499 ZW10 INTERACTOR, ANTISENSE; ZWINTAS M-PHASE PHOSPHOPROTEIN 5; MPHOSPH5; MPP5
Asterisk 605500 M-PHASE PHOSPHOPROTEIN 6; MPHOSPH6 MPP6
Asterisk 605501 M-PHASE PHOSPHOPROTEIN 9; MPHOSPH9 MPP9
Asterisk 605502 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 2; DNAJC2 ZUOTIN-RELATED FACTOR 1; ZRF1;; M-PHASE PHOSPHOPROTEIN 11; MPHOSPH11; MPP11
Asterisk 605503 M-PHASE PHOSPHOPROTEIN 10; MPHOSPH10 MPP10
Asterisk 605504 KALLIKREIN-RELATED PEPTIDASE 9; KLK9 KALLIKREIN 9;; KALLIKREIN-LIKE 3; KLKL3
Asterisk 605505 KALLIKREIN-RELATED PEPTIDASE 13; KLK13 KALLIKREIN 13;; KALLIKREIN-LIKE 4; KLKL4
Asterisk 605506 VACUOLAR PROTEIN SORTING 26, YEAST, HOMOLOG OF, A; VPS26A VPS26;; HB58, MOUSE, HOMOLOG OF
Asterisk 605507 INTERLEUKIN 36 RECEPTOR ANTAGONIST; IL36RN INTERLEUKIN 1 FAMILY, MEMBER 5; IL1F5;; INTERLEUKIN 1 RECEPTOR ANTAGONIST HOMOLOG 1; IL1HY1;; FAMILY OF INTERLEUKIN 1-DELTA;; FIL1-DELTA;; IL1RP3
Asterisk 605508 INTERLEUKIN 36, BETA; IL36B INTERLEUKIN 1 FAMILY, MEMBER 8; IL1F8;; FAMILY OF INTERLEUKIN 1-ETA;; FIL1-ETA;; INTERLEUKIN 1 SUPERFAMILY E;; IL1H2
Asterisk 605509 INTERLEUKIN 36, ALPHA; IL36A INTERLEUKIN 1 FAMILY, MEMBER 6; IL1F6;; FAMILY OF INTERLEUKIN 1-EPSILON;; FIL1-EPSILON
Asterisk 605510 INTERLEUKIN 37; IL37 INTERLEUKIN 1 FAMILY, MEMBER 7; IL1F7;; FAMILY OF INTERLEUKIN 1-ZETA;; FIL1-ZETA;; IL1H4;; IL1RP1
Asterisk 605511 TRANSMEMBRANE PROTEASE, SERINE 3; TMPRSS3
Asterisk 605512 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4; ELOVL4
Asterisk 605513 MELAN A; MLANA MELANOMA ANTIGEN RECOGNIZED BY T CELLS 1; MART1
Asterisk 605514 PROTOCADHERIN 15; PCDH15
Asterisk 605515 FORKHEAD BOX P1; FOXP1 GLUTAMINE-RICH FACTOR 1; QRF1
Asterisk 605516 CADHERIN 23; CDH23 OTOCADHERIN;; CADHERIN-RELATED FAMILY, MEMBER 23; CDHR23
Asterisk 605517 BETA-1,4-GLUCURONYLTRANSFERASE 1; B4GAT1 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 1;B3GNT1;; i-BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE; iGNT
Asterisk 605518 LIPIN 1; LPIN1 KIAA0188;; PHOSPHATIDIC ACID PHOSPHOHYDROLASE 1; PAP1;; PAH1, S. CEREVISIAE, HOMOLOG OF
Asterisk 605519 LIPIN 2; LPIN2
Asterisk 605520 LIPIN 3; LPIN3
Asterisk 605521 TATA BOX-BINDING PROTEIN-LIKE PROTEIN 1; TBPL1 TBP-LIKE PROTEIN 1;; TLP;; TBP-RELATED FACTOR 2; TRF2;; TBP-LIKE FACTOR; TLF
Asterisk 605522 LIMB REGION 1, MOUSE, HOMOLOG OF; LMBR1 CHROMOSOME 7 OPEN READING FRAME 2; C7ORF2 ZPA REGULATORY SEQUENCE, INCLUDED; ZRS, INCLUDED
Asterisk 605523 TRANSDUCER OF ERBB2, 1; TOB1 TOB
Caret 605524 MOVED TO 164874
Asterisk 605525 CHROMATIN LICENSING AND DNA REPLICATION FACTOR 1; CDT1 DOUBLE PARKED, DROSOPHILA, HOMOLOG OF; DUP
Percent 605526 ALZHEIMER DISEASE 6 AD6;; ALZHEIMER DISEASE 6, LATE-ONSET PLASMA BETA-AMYLOID-42 LEVEL QUANTITATIVE TRAIT LOCUS, INCLUDED
Asterisk 605527 METHIONINE ADENOSYLTRANSFERASE II, BETA; MAT2B
Asterisk 605528 NEURAMINIDASE 2; NEU2 SIALIDASE 2; SIAL2;; SIALIDASE, CYTOSOLIC
Asterisk 605529 UPF2, YEAST, HOMOLOG OF; UPF2 REGULATOR OF NONSENSE TRANSCRIPTS 2; RENT2
Asterisk 605530 UPF3, YEAST, HOMOLOG OF, A; UPF3A REGULATOR OF NONSENSE TRANSCRIPTS 3A; RENT3A;; UPF3
Caret 605531 MOVED TO 300298
Asterisk 605532 SMAD-SPECIFIC E3 UBIQUITIN PROTEIN LIGASE 2; SMURF2 SMAD UBIQUITINATION REGULATORY FACTOR 2
Asterisk 605533 NEUREGULIN 3; NRG3
Asterisk 605534 HIGH MOBILITY GROUP PROTEIN 20A; HMG20A
Asterisk 605535 HIGH MOBILITY GROUP PROTEIN 20B; HMG20B BRCA2-ASSOCIATED FACTOR, 35-KD; BRAF35
Asterisk 605536 RAB11 FAMILY-INTERACTING PROTEIN 5; RAB11FIP5 RAB11-INTERACTING PROTEIN; RIP11;; KIAA0857
Asterisk 605537 ACTIVATING TRANSCRIPTION FACTOR 6; ATF6 ACTIVATING TRANSCRIPTION FACTOR 6, ALPHA; ATF6A
Asterisk 605538 NEUROTENSIN RECEPTOR 2; NTSR2
Asterisk 605539 KALLIKREIN-RELATED PEPTIDASE 12; KLK12 KALLIKREIN 12;; KALLIKREIN-LIKE 5; KLKL5
Asterisk 605540 POLY(A) POLYMERASE-ASSOCIATED DOMAIN-CONTAINING PROTEIN 5; PAPD5 PAP-ASSOCIATED DOMAIN-CONTAINING PROTEIN 5;; TOPOISOMERASE-RELATED FUNCTION PROTEIN 4-2; TRF4-2;; GLD4
Asterisk 605541 VAV3 ONCOGENE; VAV3 ONCOGENE VAV3
Asterisk 605542 INTERLEUKIN 36, GAMMA; IL36G INTERLEUKIN 1 FAMILY, MEMBER 9; IL1F9;; INTERLEUKIN 1 HOMOLOG 1; IL1H1;; INTERLEUKIN 1-RELATED PROTEIN 2; IL1RP2
Number Sign 605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY
Percent 605544 FIBROMATOSIS, GINGIVAL, 2; GINGF2 GGF2;; FIBROMATOSIS, GINGIVAL, HEREDITARY, 2; HGF2
Asterisk 605545 CD163 ANTIGEN; CD163 HEMOGLOBIN SCAVENGER RECEPTOR
Asterisk 605546 GLYCOPROTEIN VI, PLATELET; GP6 PLATELET GLYCOPROTEIN VI;; GP VI
Asterisk 605547 FOLLISTATIN-LIKE 1; FSTL1 FOLLISTATIN-RELATED PROTEIN; FRP MICRO RNA 198, INCLUDED; MIR198, INCLUDED;; miRNA198, INCLUDED
Asterisk 605548 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 15; ADAM15 METALLOPROTEINASE-LIKE, DISINTEGRIN-LIKE, AND CYSTEINE-RICH PROTEIN 15; MDC15;; METARGIDIN
Percent 605549 CONE-ROD DYSTROPHY 8; CORD8
Asterisk 605550 RAS PROTEIN, DEXAMETHASONE-INDUCED, 1; RASD1 DEXAMETHASONE-INDUCED RAS PROTEIN 1; DEXRAS1
Asterisk 605551 NITRIC OXIDE SYNTHASE 1 (NEURONAL) ADAPTOR PROTEIN; NOS1AP C-TERMINAL PDZ DOMAIN LIGAND OF NEURONAL NITRIC OXIDE SYNTHASE; CAPON
Percent 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME 1; AOMS1 METABOLIC SYNDROME X ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 1, INCLUDED;; METABOLIC SYNDROME, PROTECTION AGAINST, INCLUDED
Asterisk 605553 POLY(A) POLYMERASE, ALPHA; PAPOLA PAP
Asterisk 605554 CD244 ANTIGEN; CD244 NATURAL KILLER CELL RECEPTOR 2B4; 2B4;; NATURAL KILLER CELL ACTIVATION-INDUCING LIGAND; NAIL;; SLAM FAMILY, MEMBER 4; SLAMF4
Asterisk 605555 ARYL HYDROCARBON RECEPTOR-INTERACTING PROTEIN; AIP HEPATITIS B VIRUS X-ASSOCIATED PROTEIN 2; XAP2;; ARA9
Asterisk 605556 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE TRANSPORTER-LIKE), MEMBER 10; SLC4A10
Asterisk 605557 PR DOMAIN-CONTAINING PROTEIN 16; PRDM16 MDS1/EVI1-LIKE GENE 1; MEL1
Asterisk 605558 FIBROBLAST GROWTH FACTOR 20; FGF20
Asterisk 605559 HOMEOBOX C11; HOXC11
Asterisk 605560 HOMEOBOX C10; HOXC10
Asterisk 605561 PLAKOPHILIN 3; PKP3
Asterisk 605562 SECRETOGLOBIN, FAMILY 2A, MEMBER 2; SCGB2A2 MAMMAGLOBIN 1; MGB1
Asterisk 605563 CALCIUM-BINDING PROTEIN 1; CABP1 CALBRAIN
Asterisk 605564 CALCIUM- AND INTEGRIN-BINDING PROTEIN 2; CIB2 DNA-DEPENDENT PROTEIN KINASE-INTERACTING PROTEIN 2;; KINASE-INTERACTING PROTEIN 2; KIP2
Asterisk 605565 RESISTIN; RETN RSTN;; FOUND IN INFLAMMATORY ZONE 3; FIZZ3
Asterisk 605566 RETICULON 4 RECEPTOR; RTN4R NOGO RECEPTOR; NGR
Asterisk 605567 SIVA APOPTOSIS-INDUCING FACTOR 1; SIVA1 CD27-BINDING PROTEIN; CD27BP
Asterisk 605568 SMAD-SPECIFIC E3 UBIQUITIN PROTEIN LIGASE 1; SMURF1 SMAD UBIQUITINATION REGULATORY FACTOR 1
Asterisk 605569 G PROTEIN-COUPLED RECEPTOR 83; GPR83 GIR, MOUSE, HOMOLOG OF; GIR;; G PROTEIN-COUPLED RECEPTOR 72; GPR72
Asterisk 605570 RAS-ASSOCIATED PROTEIN RAB11A; RAB11A
Asterisk 605571 PIWI-LIKE 1; PIWIL1 HIWI;; MIWI, MOUSE, HOMOLOG OF; MIWI
Percent 605572 ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 2 AOMS2
Asterisk 605573 17-BETA HYDROXYSTEROID DEHYDROGENASE III; HSD17B3 17-BETA-HSD III;; ESTRADIOL 17-BETA-DEHYDROGENASE; EDH17B3;; TESTICULAR 17-BETA-HYDROXYSTEROID DEHYDROGENASE III
Asterisk 605574 UBIQUITIN-CONJUGATING ENZYME E2C; UBE2C UBIQUITIN-CONJUGATING ENZYME UBCH10; UBCH10
Asterisk 605575 STRUCTURAL MAINTENANCE OF CHROMOSOMES 4; SMC4 CHROMOSOME-ASSOCIATED PROTEIN C; CAPC
Asterisk 605576 STRUCTURAL MAINTENANCE OF CHROMOSOMES 2; SMC2 CHROMOSOME-ASSOCIATED PROTEIN E; CAPE
Asterisk 605577 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 2; RASGRP2 CALCIUM AND DIACYLGLYCEROL-REGULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR I;; CALDAG-GEFI;; CDC25-LIKE GENE; CDC25L
Asterisk 605578 INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 2; IFITM2
Asterisk 605579 INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 3; IFITM3
Asterisk 605580 INTERLEUKIN 23-ALPHA; IL23A INTERLEUKIN 23, p19 SUBUNIT;; p19;; SGRF
Asterisk 605581 BETA-1,3-N-ACETYLGLUCOSYAMINYLTRANSFERASE 2; B3GNT2 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 1, FORMERLY; B3GNT1, FORMERLY;; B3GNT
Percent 605582 CARDIOMYOPATHY, DILATED, 1K; CMD1K
Number Sign 605583 DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25
Asterisk 605584 DEAH BOX POLYPEPTIDE 38; DHX38 PRP16, S. CEREVISIAE, HOMOLOG OF; PRP16;; DDX38
Asterisk 605585 CELL DIVISION CYCLE 40, S. CEREVISIAE, HOMOLOG OF; CDC40 PRP17, S. CEREVISIAE, HOMOLOG OF; PRP17
Asterisk 605586 IMPORTIN 7; IPO7 RAN-BINDING PROTEIN 7; RANBP7
Asterisk 605587 PROTEASE INHIBITOR 14; PI14 SERINE PROTEASE INHIBITOR, CLADE I, MEMBER 2; SERPINI2;; MYOEPITHELIUM-DERIVED SERINE PROTEASE INHIBITOR; MEPI;; PANCPIN
Number Sign 605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; CMT2B1 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2B1;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B1;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B1
Number Sign 605589 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B2;; CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2B2;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B2;; ARCMT2B
Asterisk 605590 SPLICING FACTOR 3B, SUBUNIT 1; SF3B1 SF3B, 155-KD SUBUNIT; SF3B155;; SPLICEOSOME-ASSOCIATED PROTEIN, 155-KD; SAP155
Asterisk 605591 SPLICING FACTOR 3B, SUBUNIT 2; SF3B2 SF3B, 145-KD SUBUNIT; SF3B145;; SPLICEOSOME-ASSOCIATED PROTEIN, 145-KD; SAP145
Asterisk 605592 SPLICING FACTOR 3B, SUBUNIT 3; SF3B3 SF3B, 130-KD SUBUNIT; SF3B130;; SPLICEOSOME-ASSOCIATED PROTEIN, 130-KD; SAP130
Asterisk 605593 SPLICING FACTOR 3B, SUBUNIT 4; SF3B4 SF3B, 49-KD SUBUNIT; SF3B49;; SPLICEOSOME-ASSOCIATED PROTEIN, 49-KD; SAP49
Number Sign 605594 DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 DFNA39/DENTINOGENESIS IMPERFECTA 1 SYNDROME;; DFNA39/DGI1 SYNDROME;; DGI1/DFNA39 SYNDROME
Asterisk 605595 SPLICING FACTOR 3A, SUBUNIT 1; SF3A1 SF3A, 120-KD SUBUNIT; SF3A120;; SPLICEOSOME-ASSOCIATED PROTEIN, 114-KD; SAP114;; PRP21, S. CEREVISIAE, HOMOLOG OF; PRP21
Asterisk 605596 SPLICING FACTOR 3A, SUBUNIT 3; SF3A3 SF3A, 60-KD SUBUNIT; SF3A60;; SPLICEOSOME-ASSOCIATED PROTEIN, 61-KD; SAP61;; PRP9, S. CEREVISIAE, HOMOLOG OF; PRP9
Asterisk 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2 PITUITARY FORKHEAD FACTOR, MOUSE, HOMOLOG OF; PFRK
Percent 605598 DIABETES MELLITUS, INSULIN-DEPENDENT, 18; IDDM18 INSULIN-DEPENDENT DIABETES MELLITUS 18
Asterisk 605599 LYSOPHOSPHOLIPASE I; LYPLA1 ACYL PROTEIN THIOESTERASE 1; APT1
Asterisk 605600 IMPORTIN 8; IPO8 IMP8;; RAN-BINDING PROTEIN 8; RANBP8
Asterisk 605601 PROTEOGLYCAN 2; PRG2 EOSINOPHIL GRANULE MAJOR BASIC PROTEIN; MBP
Asterisk 605602 MYOZENIN 2; MYOZ2 CALSARCIN 1
Asterisk 605603 MYOZENIN 1; MYOZ1 CALSARCIN 2
Asterisk 605604 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 2; PAIP2 POLY(A)-BINDING PROTEIN-INTERACTING PROTEIN 2;; PABP-INTERACTING PROTEIN 2;; PAIP2A
Caret 605605 MOVED TO 605535
Percent 605606 PSORIASIS 7, SUSCEPTIBILITY TO; PSORS7
Asterisk 605607 CENTROMERIC PROTEIN H; CENPH
Asterisk 605608 CLAUDIN 14; CLDN14
Asterisk 605609 OXIDATION RESISTANCE 1; OXR1
Asterisk 605610 POLYNUCLEOTIDE KINASE 3-PRIME PHOSPHATASE; PNKP POLYNUCLEOTIDE KINASE; PNK;; DNA KINASE
Asterisk 605611 SH3 DOMAIN-BINDING PROTEIN 4; SH3BP4 BOG25
Asterisk 605612 SH3 DOMAIN-BINDING PROTEIN 5; SH3BP5 SAB
Asterisk 605613 HUNTINGTIN-INTERACTING PROTEIN 1-RELATED PROTEIN; HIP1R HUNTINGTIN-INTERACTING PROTEIN 12; HIP12;; HIP1-RELATED PROTEIN
Asterisk 605614 GENERAL CONTROL OF AMINO ACID SYNTHESIS 1, YEAST, HOMOLOG-LIKE 1; GCN1L1
Asterisk 605615 ARIADNE, DROSOPHILA, HOMOLOG OF, 2; ARIH2 ARI2;; TRIAD DOMAIN-CONTAINING PROTEIN 1; TRIAD1
Asterisk 605616 SOLUTE CARRIER FAMILY 6 (PROLINE IMINO TRANSPORTER), MEMBER 20; SLC6A20 X TRANSPORTER PROTEIN 3; XT3
Caret 605617 MOVED TO 220600
NULL 605618 TETRALOGY OF FALLOT SYNDROME, AUTOSOMAL RECESSIVE
Asterisk 605619 INTERLEUKIN 20; IL20
Asterisk 605620 INTERLEUKIN 20 RECEPTOR, ALPHA; IL20RA IL20R1
Asterisk 605621 INTERLEUKIN 20 RECEPTOR, BETA; IL20RB IL20R2;; DIRS1
Asterisk 605622 PROTOCADHERIN 12; PCDH12 CADHERIN, VASCULAR ENDOTHELIAL, 2; VECAD2;; VE-CADHERIN 2
Asterisk 605623 MUSKELIN 1; MKLN1 TWO-HYBRID-ASSOCIATED PROTEIN WITH RANBPM 2; TWA2
Asterisk 605624 ARIADNE, DROSOPHILA, HOMOLOG OF, 1; ARIH1 HHARI;; UBCH7-BINDING PROTEIN; UBCH7BP
Asterisk 605625 MYELOMA OVEREXPRESSED GENE; MYEOV
Asterisk 605626 ENDOGENOUS RETROVIRUS GROUP K, MEMBER 6; ERVK-6
Percent 605627 CEREBROOCULONASAL SYNDROME
Asterisk 605628 HIV-1 TAT-INTERACTING PROTEIN 2, 30-KD; HTATIP2 TIP30;; CC3
Asterisk 605629 CITRON RHO-INTERACTING SERINE/THREONINE KINASE; CIT SERINE/THREONINE PROTEIN KINASE 21; STK21;; CITRON RHO-INTERACTING KINASE; CRIK;; RHO-INTERACTING SERINE/THREONINE KINASE
Asterisk 605630 PHOSPHOLIPASE A2, GROUP IID; PLA2G2D SECRETORY-TYPE PLA, STROMA-ASSOCIATED HOMOLOG; SPLASH
Asterisk 605631 NAPSIN A; NAPSA PRONAPSIN A;; NAPA;; NAP1
Asterisk 605632 SOLUTE CARRIER FAMILY 35 (UDP-N-ACETYLGLUCOSAMINE TRANSPORTER), MEMBER 3; SLC35A3 UDP-N-ACETYLGLUCOSAMINE TRANSPORTER;; UDP-GlcNAc TRANSPORTER
Asterisk 605633 MUCIN 3B, INTESTINAL; MUC3B
Asterisk 605634 SOLUTE CARRIER FAMILY 35 (CMP-SIALIC ACID TRANSPORTER), MEMBER 1; SLC35A1 CYTIDINE MONOPHOSPHATE-SIALIC ACID TRANSPORTER; CST;; CMP-SIA TRANSPORTER
Percent 605635 HYPERALDOSTERONISM, FAMILIAL, TYPE II; HALD2 FH II
Asterisk 605636 MATERNALLY EXPRESSED GENE 3; MEG3 GENE TRAP LOCUS 2; GTL2
Number Sign 605637 MYOPATHY, PROXIMAL, AND OPHTHALMOPLEGIA MYPOP;; MYOPATHY WITH CONGENITAL JOINT CONTRACTURES, OPHTHALMOPLEGIA, AND RIMMED VACUOLES;; INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT, FORMERLY; IBM3, FORMERLY
Asterisk 605638 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 6; BIRC6 APOLLON;; BRUCE, MOUSE, HOMOLOG OF; BRUCE;; KIAA1289
Asterisk 605639 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 8; SIGLEC8 SIALOADHESIN FAMILY MEMBER 2; SAF2 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 8, LONG ISOFORM, INCLUDED; SIGLEC8L, INCLUDED
Asterisk 605640 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 9; SIGLEC9
Asterisk 605641 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 6; SLC7A6 y(+)L-TYPE AMINO ACID TRANSPORTER 2;; y(+)LAT2
Percent 605642 THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA PTCPRN;; PRN1
Asterisk 605643 KALLIKREIN-RELATED PEPTIDASE 5; KLK5 KALLIKREIN 5;; STRATUM CORNEUM TRYPTIC ENZYME; SCTE;; KALLIKREIN-LIKE 2; KLKL2
Asterisk 605644 KALLIKREIN-RELATED PEPTIDASE 8; KLK8 KALLIKREIN 8;; NEUROPSIN, MOUSE, HOMOLOG OF;; TUMOR-ASSOCIATED DIFFERENTIALLY EXPRESSED GENE 14; TADG14;; PROTEASE, SERINE, 19; PRSS19 NEUROPSIN, TYPE 1, INCLUDED;; NEUROPSIN, TYPE 2, INCLUDED
Asterisk 605645 RESISTIN-LIKE PROTEIN, BETA; RETNLB RESISTIN-LIKE MOLECULE-BETA; RELMB;; FOUND IN INFLAMMATORY ZONE 2; FIZZ2
Asterisk 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4 PENDRIN;; PDS GENE
Asterisk 605647 F-BOX ONLY PROTEIN 6; FBXO6 FBX6;; F-BOX/G-DOMAIN PROTEIN 2; FBG2
Asterisk 605648 F-BOX ONLY PROTEIN 7; FBXO7 FBX7;; FBX
Asterisk 605649 F-BOX ONLY PROTEIN 8; FBXO8 FBX8;; F-BOX/SEC7 PROTEIN; FBS
Asterisk 605650 POLYMERASE, DNA, KAPPA; POLK DINB1;; POLQ
Asterisk 605651 F-BOX AND WD40 DOMAIN PROTEIN 11; FBXW11 FBW11;; F-BOX AND WD40 DOMAIN PROTEIN 1B, FORMERLY; FBXW1B, FORMERLY;; FBW1B;; BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN 2; BTRC2; BTRCP2 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN 2, ISOFORM A, INCLUDED; BTRCP2A, INCLUDED;; BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN 2, ISOFORM B, INCLUDED; BTRCP2B, INCLUDED;; BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN 2, ISOFORM C, INCLUDED; BTRCP2C, INCLUDED
Asterisk 605652 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 2; FBXL2 FBL2
Asterisk 605653 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 3; FBXL3 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 3A, FORMERLY; FBXL3A, FORMERLY;; FBL3A;; FBL3
Asterisk 605654 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 4; FBXL4 FBL4
Asterisk 605655 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 5; FBXL5 FBL5
Asterisk 605656 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 7; FBXL7 FBL7;; KIAA0840
Asterisk 605657 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 11; FBXL11 FBL11;; CXXC FINGER PROTEIN 8; CXXC8;; KIAA1004;; JMJC DOMAIN-CONTAINING HISTONE DEMETHYLASE 1; JHDM1A
Asterisk 605658 INTERLEUKIN 25; IL25 INTERLEUKIN 17E; IL17E
Asterisk 605659 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER D; CLEC2D NATURAL KILLER CELL LECTIN-LIKE RECEPTOR;; LECTIN-LIKE TRANSCRIPT 1; LLT1
Asterisk 605660 PREFOLDIN 6; PFDN6 KE2, MOUSE, HOMOLOG OF; HKE2
Asterisk 605661 TRIPARTITE MOTIF-CONTAINING PROTEIN 13; TRIM13 RET FINGER PROTEIN 2; RFP2;; LEU5
Asterisk 605662 RAS-ASSOCIATED PROTEIN RAB36; RAB36
Asterisk 605663 RADIAL SPOKE HEAD 14, CHLAMYDOMONAS, HOMOLOG OF; RSPH14 RHABDOID TUMOR DELETION REGION GENE 1; RTDR1
Asterisk 605664 KINESIN FAMILY MEMBER 20A; KIF20A RAB6-INTERACTING PROTEIN, KINESIN-LIKE; RAB6KIFL;; RABKINESIN 6
Caret 605665 MOVED TO 600582
Asterisk 605666 CYSTEINYL LEUKOTRIENE RECEPTOR 2; CYSLTR2 CYSLT2
Asterisk 605667 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 1; RGL1 RALGDS-LIKE GENE; RGL
Asterisk 605668 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 2; BACE2 BETA-SITE APP-CLEAVING ENZYME 2;; ASPARTIC-LIKE PROTEASE, 56-KD; ALP56;; DOWN SYNDROME REGION ASPARTIC PROTEASE; DRAP
Asterisk 605669 PROSTATE AND BREAST CANCER OVEREXPRESSED 1; PBOV1 UROC28;; UC28
Number Sign 605670 LATE-ONSET RETINAL DEGENERATION; LORD RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
Asterisk 605671 DMX-LIKE 1; DMXL1
NULL 605672 CEREBELLAR ATAXIA AND HYPERGONADOTROPIC HYPOGONADISM
Asterisk 605673 B-CELL TRANSLOCATION GENE 4; BTG4 PC3B
Asterisk 605674 B-CELL TRANSLOCATION GENE 3; BTG3 ABUNDANT IN NEUROEPITHELIUM AREA; ANA;; TOB5
Asterisk 605675 RING FINGER PROTEIN 14; RNF14 ANDROGEN RECEPTOR-ASSOCIATED PROTEIN 54; ARA54
Number Sign 605676 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA; DCWHK CARVAJAL SYNDROME;; PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR
Asterisk 605677 ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 5; ACSL5 FATTY ACID CoA LIGASE, LONG CHAIN 5; FACL5;; ACYL-CoA SYNTHETASE 5; ACS5
Asterisk 605678 MLX-INTERACTING PROTEIN-LIKE; MLXIPL WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 14; WBSCR14;; MONDO FAMILY, MEMBER B; MONDOB;; CARBOHYDRATE RESPONSE ELEMENT-BINDING PROTEIN, RAT, HOMOLOG OF; CHREBP
Asterisk 605679 INTERLEUKIN 26; IL26 AK155
Asterisk 605680 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 1A; BAZ1A WCRF180;; ACF1, DROSOPHILA, HOMOLOG OF; ACF1
Asterisk 605681 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 1B; BAZ1B WILLIAMS SYNDROME TRANSCRIPTION FACTOR; WSTF;; WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 9; WBSCR9
Asterisk 605682 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 2A; BAZ2A
Asterisk 605683 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 2B; BAZ2B
Asterisk 605684 TRIPARTITE MOTIF-CONTAINING PROTEIN 34; TRIM34 RING FINGER PROTEIN 21; RNF21;; INTERFERON-RESPONSIVE FINGER PROTEIN 1; IFP1
Caret 605685 MOVED TO 216550
Asterisk 605686 CELL ADHESION MOLECULE 1; CADM1 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4; IGSF4;; IGSF4A;; TUMOR SUPPRESSOR IN LUNG CANCER 1; TSLC1;; BL2;; ST17;; SYNAPTIC CELL ADHESION MOLECULE; SYNCAM;; SYNCAM1;; NECTIN-LIKE PROTEIN 2; NECL2
Asterisk 605687 INTERLEUKIN 19; IL19
Asterisk 605688 COPINE VI; CPNE6 N-COPINE
Asterisk 605689 COPINE VII; CPNE7
Asterisk 605690 GLIOMA TUMOR SUPPRESSOR CANDIDATE REGION GENE 1; GLTSCR1
Asterisk 605691 GLIOMA TUMOR SUPPRESSOR CANDIDATE REGION GENE 2; GLTSCR2 PROTEIN INTERACTING WITH PTEN C TERMINUS 1; PICT1
Asterisk 605692 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 7; TRPM7 LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 7; LTRPC7;; TRANSIENT RECEPTOR POTENTIAL-PHOSPHOLIPASE C-INTERACTING KINASE; TRP-PLIK;; CHAK TRPM7/CYP19A1 FUSION GENE, INCLUDED
Asterisk 605693 RAS-ASSOCIATED PROTEIN RAB30; RAB30
Asterisk 605694 RAS-ASSOCIATED PROTEIN RAB31; RAB31
Asterisk 605695 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 4; BLOC1S4 BLOC1, SUBUNIT 4; BLOS4;; CAPPUCCINO, MOUSE, HOMOLOG OF; CNO
Asterisk 605696 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 2; KCNG2 Kv6.2
Asterisk 605697 UL16-BINDING PROTEIN 1; ULBP1 RETINOIC ACID EARLY TRANSCRIPT 1I; RAET1I;; MULT1
Asterisk 605698 UL16-BINDING PROTEIN 2; ULBP2 RETINOIC ACID EARLY TRANSCRIPT 1H; RAET1H
Asterisk 605699 UL16-BINDING PROTEIN 3; ULBP3 RETINOIC ACID EARLY TRANSCRIPT 1N; RAET1N
Asterisk 605700 TRIPARTITE MOTIF-CONTAINING PROTEIN 39; TRIM39 TESTIS-ABUNDANT FINGER PROTEIN; TFP;; TRIM39, B30.2 DOMAIN-CONTAINING; TRIM39B;; RING FINGER PROTEIN 23, FORMERLY; RNF23, FORMERLY TRIM39/RPP21 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED;; TRIM39, RPP21 DOMAIN-CONTAINING, INCLUDED; TRIM39R, INCLUDED
Asterisk 605701 TRIPARTITE MOTIF-CONTAINING PROTEIN 10; TRIM10 RFB30;; HEMATOPOIETIC RING FINGER 1; HERF1;; RING FINGER PROTEIN 9, FORMERLY; RNF9, FORMERLY
Asterisk 605702 LYMPHATIC VESSEL ENDOTHELIAL HYALURONAN RECEPTOR 1 LYVE1
Asterisk 605703 VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN A; VAPA VAMP-ASSOCIATED PROTEIN A;; VAMP-ASSOCIATED PROTEIN, 33-KD; VAP33
Asterisk 605704 VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN B; VAPB VAMP-ASSOCIATED PROTEIN B;; DVAP33A, DROSOPHILA, HOMOLOG OF VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN C, INCLUDED; VAPC, INCLUDED;; VAMP-ASSOCIATED PROTEIN C, INCLUDED
Asterisk 605705 SALT-INDUCIBLE KINASE 1; SIK1 SNF1-LIKE KINASE; SNF1LK;; MSK, MOUSE, HOMOLOG OF
Asterisk 605706 RECEPTOR-INTERACTING SERINE-THREONINE KINASE 4; RIPK4 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 3; ANKRD3;; PKC-DELTA-INTERACTING PROTEIN KINASE; DIK;; RIP4
Caret 605707 MOVED TO 604985
Asterisk 605708 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 11; ARHGEF11 PDZ-RHOGEF;; GLUTAMATE TRANSPORTER EAAT4-ASSOCIATED PROTEIN 48; GTRAP48;; KIAA0380
Asterisk 605709 ADP-RIBOSYLATION-LIKE FACTOR 6-INTERACTING PROTEIN 5; ARL6IP5 PRA1 DOMAIN FAMILY, MEMBER 3; PRAF3;; GLUTAMATE TRANSPORTER EAAC1-ASSOCIATED PROTEIN;; GTRAP3-18;; JWA
Asterisk 605710 GDNF FAMILY RECEPTOR ALPHA-3; GFRA3 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR RECEPTOR ALPHA-3
Number Sign 605711 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1 MMDS
Asterisk 605712 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1; SPTLC1 SPT1;; LCB1
Asterisk 605713 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 2; SPTLC2 SPT2;; LCB2A;; KIAA0526
Number Sign 605714 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED;; AMYLOIDOSIS, HEREDITARY, WITH CEREBRAL HEMORRHAGE, DUTCH VARIANT; HCHWAD;; CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT;; CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT;; CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT;; CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT;; CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT
Asterisk 605715 CD276 ANTIGEN; CD276 B7 HOMOLOG 3; B7H3
Asterisk 605716 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 5; KCNH5
Asterisk 605717 INDUCIBLE T-CELL COSTIMULATOR LIGAND; ICOSLG ICOS LIGAND; ICOSL; LICOS;; B7 HOMOLOG 2; B7H2;; GL50;; B7-RELATED PROTEIN 1; B7RP1
Asterisk 605718 MEDIATOR COMPLEX SUBUNIT 4; MED4 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 4, S. CEREVISIAE, HOMOLOG OF;; VITAMIN D RECEPTOR-INTERACTING PROTEIN, 36-KD; DRIP36;; MEDIATOR, 34-KD SUBUNIT, MOUSE, HOMOLOG OF;; HSPC126
Asterisk 605719 LINKER FOR ACTIVATION OF T CELLS FAMILY, MEMBER 2; LAT2 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 5; WBSCR5;; LINKER FOR ACTIVATION OF B CELLS; LAB;; NON-T-CELL ACTIVATION LINKER; NTAL
Asterisk 605720 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 4; KCNK4 TRAAK
Asterisk 605721 JUNCTION ADHESION MOLECULE 1; JAM1 JUNCTION ADHESION MOLECULE, MOUSE, HOMOLOG OF; JAM;; JAM-A
Asterisk 605722 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 16; KCNJ16 KIR5.1
Asterisk 605723 PROGRAMMED CELL DEATH 1 LIGAND 2; PDCD1LG2 PDCD1 LIGAND 2; PDCD1L2;; PROGRAMMED DEATH LIGAND 2; PDL2;; B7DC
Number Sign 605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1 FAD1
Asterisk 605725 PERIAXIN; PRX
Number Sign 605726 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2 NEURONOPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE;; NEUROPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE; HMNJ;; SPINAL MUSCULAR ATROPHY, JERASH TYPE
Percent 605727 OTOSCLEROSIS 2; OTSC2
Percent 605728 CATARACT 25; CTRCT25 CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES; CCSSO;; CATARACT, CENTRAL POUCH-LIKE, WITH SUTURAL OPACITIES
Asterisk 605729 AT-HOOK TRANSCRIPTION FACTOR AKNA; AKNA
Asterisk 605730 SPERM-ASSOCIATED ANTIGEN 6; SPAG6
Asterisk 605731 SPERM-ASSOCIATED ANTIGEN 8; SPAG8 SPERM MEMBRANE PROTEIN 1; SMP1
Asterisk 605732 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 21; TNFRSF21 DEATH RECEPTOR 6; DR6
Asterisk 605733 PRELI DOMAIN-CONTAINING PROTEIN 1; PRELID1 PRELI;; PX19, CHICKEN, HOMOLOG OF; PX19
Asterisk 605734 TRANSMEMBRANE PROTEIN WITH EGF-LIKE AND 2 FOLLISTATIN-LIKE DOMAINS 2; TMEFF2 TOMOREGULIN; TR;; HYPERPLASTIC POLYPOSIS GENE 1; HPP1
Percent 605735 BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1 DEFICIENCY, PLATELET;; PGHS1 DEFICIENCY;; PLATELET CYCLOOXYGENASE 1 DEFICIENCY;; PLATELET COX1 DEFICIENCY
Asterisk 605736 UBIQUITIN-ASSOCIATED AND SH3 DOMAIN-CONTAINING PROTEIN A; UBASH3A SUPPRESSOR OF T-CELL RECEPTOR SIGNALING 2; STS2;; CBL-INTERACTING PROTEIN 4; CLIP4;; TULA
Asterisk 605737 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 7; BIRC7 INHIBITOR OF APOPTOSIS PROTEIN, MELANOMA; MLIAP;; INHIBITOR OF APOPTOSIS PROTEIN, KIDNEY; KIAP;; LIVIN
Percent 605738 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 2; MCOPCB2 MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 2; MCOPCB2
Asterisk 605739 KYPHOSCOLIOSIS PEPTIDASE; KY KYPHOSCOLIOSIS, MOUSE, HOMOLOG OF
Asterisk 605740 SCLEROSTIN; SOST
Asterisk 605741 G PROTEIN-COUPLED RECEPTOR 183; GPR183 EPSTEIN-BARR VIRUS-INDUCED GENE 2; EBI2
Asterisk 605742 TUBULIN, ALPHA-8; TUBA8 TUBULIN, ALPHA-LIKE 2; TUBAL2
Asterisk 605743 HEDGEHOG ACYLTRANSFERASE; HHAT MELANOMA ANTIGEN RECOGNIZED BY T CELLS 2; MART2;; SKINNY HEDGEHOG, DROSOPHILA, HOMOLOG OF; SKI1
Asterisk 605744 EXOSTOSIN-LIKE GLYCOSYLTRANSFERASE 3; EXTL3 EXOSTOSIN-LIKE 3;; MULTIPLE EXOSTOSES-LIKE 3;; EXT-RELATED GENE 1; EXTR1;; REG PROTEIN RECEPTOR, RAT, HOMOLOG OF
Asterisk 605745 CYTOCHROME b REDUCTASE 1; CYBRD1 DUODENAL CYTOCHROME b; DCYTB
Percent 605746 ANISOMASTIA
Asterisk 605747 LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1 LDLR ADAPTOR PROTEIN 1;; ARH GENE; ARH
Asterisk 605748 BETA-CAROTENE OXYGENASE 1; BCO1 BETA-CAROTENE 15,15-PRIME-MONOOXYGENASE 1; BCMO1;; BETA-CAROTENE 15,15-PRIME-DIOXYGENASE; BCDO;; BETA-CAROTENE 15,15-PRIME OXYGENASE 1
Percent 605749 CATARACT 26, MULTIPLE TYPES; CTRCT26 CATARACT, AUTOSOMAL RECESSIVE, EARLY-ONSET, PULVERULENT; CAAR
Percent 605750 EXUDATIVE VITREORETINOPATHY 3; EVR3
Number Sign 605751 SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2; BFIC2
Asterisk 605752 HID1 DOMAIN-CONTAINING PROTEIN 1; HID1 DOWNREGULATED IN MULTIPLE CANCERS 1; DMC1;; CHROMOSOME 17 OPEN READING FRAME 28; C17ORF28
Asterisk 605753 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 2; SPINK2 ACROSIN-TRYPSIN INHIBITOR HUSI-II
Asterisk 605754 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Q PROTEIN; PIGQ
Asterisk 605755 DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 2; DCDC2 RU2;; RU2S
NULL 605756 OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH SHORT STATURE AND RECURRENT METABOLIC ACIDOSIS GONADAL DYSGENESIS, HYPERGONADOTROPIC, XX TYPE, WITH SHORT STATURE AND RECURRENT METABOLIC ACIDOSIS
Asterisk 605757 PELOTA, DROSOPHILA, HOMOLOG OF; PELO
Asterisk 605758 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 1; ASB1
Asterisk 605759 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 2; ASB2
Asterisk 605760 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 3; ASB3
Asterisk 605761 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 4; ASB4
Asterisk 605762 RENAL TUMOR ANTIGEN; RAGE MOK
Asterisk 605763 SOLUTE CARRIER FAMILY 45, MEMBER 1; SLC45A1 DELETED IN NEUROBLASTOMA 5; DNB5
Asterisk 605764 TYROSYL-DNA PHOSPHODIESTERASE 2; TDP2 TRAF- AND TNF RECEPTOR-ASSOCIATED PROTEIN; TTRAP
Asterisk 605765 DELETED IN LYMPHOCYTIC LEUKEMIA, 1; DLEU1 LEU1;; B-CELL NEOPLASIA-ASSOCIATED GENE WITH MULTIPLE SPLICING; BCMS
Asterisk 605766 DELETED IN LYMPHOCYTIC LEUKEMIA, 2; DLEU2 LEU2;; BCMSUN
Asterisk 605767 PHOSPHOPROTEIN ASSOCIATED WITH GLYCOSPHINGOLIPID-ENRICHED MICRODOMAINS 1; PAG1 CSK-BINDING PROTEIN; CBP
Asterisk 605768 DUAL ADAPTOR OF PHOSPHOTYROSINE AND 3-PHOSPHOINOSITIDES 1 DAPP1;; B-CELL ADAPTOR MOLECULE, 32-KD; BAM32
Asterisk 605769 TRIPARTITE MOTIF-CONTAINING PROTEIN 33; TRIM33 TRANSCRIPTIONAL INTERMEDIARY FACTOR 1-GAMMA; TIF1G;; TIF1-GAMMA;; RET-FUSED GENE 7; RFG7;; ECTODERMIN, XENOPUS, HOMOLOG OF; ECTO PTC7 CHIMERIC ONCOGENE, INCLUDED
Asterisk 605770 ILVB-LIKE; ILVBL ACETOLACTATE SYNTHASE, BACTERIAL, HOMOLOG OF; AHAS
Asterisk 605771 COX7A2-LIKE PROTEIN; COX7A2L CYTOCHROME C OXIDASE SUBUNIT 7A2-LIKE;; CYTOCHROME C OXIDASE SUBUNIT VIIA POLYPEPTIDE 2-LIKE;; COX7RP;; COX7AR;; EB1;; SUPERCOMPLEX ASSEMBLY FACTOR 1; SCAF1;; SILICA-INDUCED GENE 81; SIG81
Asterisk 605772 ESTROGEN RECEPTOR-BINDING SITE-ASSOCIATED ANTIGEN, 9; EBAG9 RCAS1;; EB9
Asterisk 605773 LEUKOTRIENE B4 RECEPTOR 2; LTB4R2 LEUKOTRIENE B4 G PROTEIN-COUPLED RECEPTOR 2; BLT2; BLTR2
Asterisk 605774 KELCH-LIKE 2; KLHL2 MAYVEN
Asterisk 605775 KELCH-LIKE 3; KLHL3
Asterisk 605776 FIBRINOGEN-LIKE 1; FGL1 HEPATOCYTE-DERIVED FIBRINOGEN-RELATED PROTEIN 1; HFREP1;; HEPASSOCIN
Asterisk 605777 SPHINGOMYELIN PHOSPHODIESTERASE 3, NEUTRAL MEMBRANE; SMPD3 SPHINGOMYELINASE, NEUTRAL, 2; NSMASE2
Asterisk 605778 NIF3-LIKE 1; NIF3L1 ALS2 CHROMOSOME REGION GENE 1; ALS2CR1
Percent 605779 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 7; NDNC7 ONYCHODYSPLASIA, ISOLATED CONGENITAL
Asterisk 605780 PR DOMAIN-CONTAINING PROTEIN 4; PRDM4 PFM1
Asterisk 605781 RAS HOMOLOG GENE FAMILY, MEMBER D; RHOD ARHD;; RHO-RELATED PROTEIN HP1; RHOHP1
Asterisk 605782 EUKARYOTIC TRANSLATION INITIATION FACTOR 5A2; EIF5A2
Asterisk 605783 BREAST CARCINOMA AMPLIFIED SEQUENCE 2; BCAS2 DAM1
Asterisk 605784 TWEETY, DROSOPHILA, HOMOLOG OF, 1; TTYH1
Asterisk 605785 TUBULIN, GAMMA-2; TUBG2
Asterisk 605786 RNA-BINDING MOTIF PROTEIN, SINGLE STRAND-INTERACTING, 3; RBMS3
Asterisk 605787 ANKYRIN REPEAT-CONTAINING PROTEIN, FAMILY A, MEMBER 2; ANKRA2 ANKRA;; RFXANK-LIKE PROTEIN
Asterisk 605788 MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 3; MAPRE3 ADENOMATOUS POLYPOSIS COLI-BINDING PROTEIN EB3; EB3;; APC-BINDING PROTEIN RP3; RP3;; EB1 FAMILY, MEMBER 3; EBF3
Asterisk 605789 MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 2; MAPRE2 ADENOMATOUS POLYPOSIS COLI-BINDING PROTEIN EB2; EB2;; APC-BINDING PROTEIN RP1; RP1
Asterisk 605790 SERINE/THREONINE KINASE 31; STK31
Asterisk 605791 TESTIS-EXPRESSED GENE 12; TEX12
Asterisk 605792 TESTIS-EXPRESSED GENE 14; TEX14
Asterisk 605793 RING FINGER PROTEIN 17; RNF17
Asterisk 605794 MOV10-LIKE 1; MOV10L1 CARDIAC HELICASE ACTIVATED BY MEF2C PROTEIN; CHAMP
Asterisk 605795 TESTIS-EXPRESSED GENE 15; TEX15
Asterisk 605796 TUDOR DOMAIN-CONTAINING PROTEIN 1; TDRD1
Asterisk 605797 ANKYRIN REPEAT, SAM, AND BASIC LEUCINE ZIPPER DOMAIN-CONTAINING 1; ASZ1 ANKYRIN-LIKE PROTEIN 1; ALP1;; ANKL1;; GERM CELL-SPECIFIC PROTEIN CONTAINING ANK, SAM, AND BASIC LEUCINE ZIPPER DOMAINS; GASZ;; C7ORF7
Asterisk 605798 NEURAL PROLIFERATION, DIFFERENTIATION, AND CONTROL PROTEIN 1; NPDC1 CAB1, YEAST, HOMOLOG OF; CAB1
Asterisk 605799 AMNIONLESS, MOUSE, HOMOLOG OF; AMN
Asterisk 605800 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U-LIKE 1; HNRNPUL1 HNRPUL1;; ADENOVIRUS E1B 55-KD PROTEIN-ASSOCIATED PROTEIN 5;; E1B55-ASSOCIATED PROTEIN 5; E1BAP5
Asterisk 605801 RALA-BINDING PROTEIN 1; RALBP1 RAL-INTERACTING PROTEIN, 76-KD; RLIP76;; RAL-INTERACTING PROTEIN 1; RIP1;; DINITROPHENYL S-GLUTATHIONE ATPase;; DNP-SG ATPase
Asterisk 605802 ZINC FINGER E BOX-BINDING HOMEOBOX 2; ZEB2 ZINC FINGER HOMEOBOX 1B; ZFHX1B;; SMAD-INTERACTING PROTEIN 1; SMADIP1;; SIP1;; KIAA0569
Number Sign 605803 DERMATITIS, ATOPIC, 2; ATOD2
Percent 605804 DERMATITIS, ATOPIC, 3; ATOD3 DERMATITIS, ATOPIC, WITH ASTHMA
Percent 605805 DERMATITIS, ATOPIC, 4; ATOD4
Asterisk 605806 CADHERIN 7; CDH7
Asterisk 605807 CADHERIN 20; CDH20
NULL 605808 BIRDSHOT CHORIORETINOPATHY BSCR
Number Sign 605809 MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A CONGENITAL MYASTHENIC SYNDROME TYPE Ia1, FORMERLY; CMS1A1, FORMERLY;; CMS Ia1, FORMERLY
Asterisk 605810 MITOCHONDRIAL RIBOSOMAL PROTEIN S22; MRPS22 CHROMOSOME 3 OPEN READING FRAME 5; C3ORF5
Asterisk 605811 NTF2-LIKE EXPORT FACTOR 1; NXT1 MTR2, YEAST, HOMOLOG OF; MTR2
Asterisk 605812 DEAD/H BOX 19; DDX19 DBP5, YEAST, HOMOLOG OF; DBP5
Asterisk 605813 NUCLEAR TRANSPORT FACTOR 2 NTF2;; PLACENTAL PROTEIN 15; PP15
Number Sign 605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET CITRULLINEMIA, TYPE II, NEONATAL-ONSET, WITH OR WITHOUT FAILURE TO THRIVE AND DYSLIPIDEMIA;; CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY; NICCD
Asterisk 605815 NUCLEOPORIN, 62-KD; NUP62
Asterisk 605816 EPSTEIN-BARR VIRUS-INDUCED GENE 3; EBI3 INTERLEUKIN 27, EBI3 SUBUNIT;; IL27, EBI3 SUBUNIT;; INTERLEUKIN 35, EBI3 SUBUNIT;; IL35, EBI3 SUBUNIT
Asterisk 605817 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 3; RIPK3 RECEPTOR-INTERACTING PROTEIN 3; RIP3
Percent 605818 DEAFNESS, AUTOSOMAL RECESSIVE 27; DFNB27
Asterisk 605819 PESCADILLO, ZEBRAFISH, HOMOLOG OF, 1; PES1 PES
Number Sign 605820 NONAKA MYOPATHY; NM NONAKA DISTAL MYOPATHY;; MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES;; INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE; HIBM;; INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING; QSM;; GNE MYOPATHY;; INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE, FORMERLY; IBM2, FORMERLY
Asterisk 605821 ERYTHROID-ASSOCIATED FACTOR; ERAF ERYTHROID DIFFERENTIATION-RELATED FACTOR; EDRF;; ALPHA-HEMOGLOBIN STABILIZING PROTEIN; AHSP
Number Sign 605822 SPONDYLOOCULAR SYNDROME; SOS
Asterisk 605823 POPEYE DOMAIN-CONTAINING PROTEIN 2; POPDC2 POPEYE PROTEIN 2; POP2
Asterisk 605824 POPEYE DOMAIN-CONTAINING PROTEIN 3; POPDC3 POPEYE PROTEIN 3; POP3
Asterisk 605825 HEME-BINDING PROTEIN 2; HEBP2 CHROMOSOME 6 OPEN READING FRAME 34; C6ORF34;; SOUL, CHICKEN, HOMOLOG OF; SOUL
Asterisk 605826 HEME-BINDING PROTEIN 1; HEBP1 HBP; HEBP FPRL2 LIGAND, INCLUDED; F2L, INCLUDED
Percent 605827 BASALOID FOLLICULAR HAMARTOMA SYNDROME, GENERALIZED, AUTOSOMAL DOMINANT; GBFHS
Asterisk 605828 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 6; TMC6 EV1 GENE; EV1;; EVER1
Asterisk 605829 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 8; TMC8 EV GENE 2; EV2;; EVER2
Asterisk 605830 FIBROBLAST GROWTH FACTOR RECEPTOR-LIKE 1; FGFRL1
Asterisk 605831 FIBROBLAST GROWTH FACTOR 22; FGF22
Asterisk 605832 ACETYL-CoA SYNTHETASE SHORT CHAIN FAMILY, MEMBER 2; ACSS2 ACS;; ACETATE-CoA LIGASE;; ACYL-CoA SYNTHETASE 1; ACECS1
Percent 605833 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 2; BMND2
Asterisk 605834 TROPOMODULIN 4; TMOD4
Asterisk 605835 TRANSMEMBRANE PROTEIN 2; TMEM2
Asterisk 605836 UNC13, C. ELEGANS, HOMOLOG OF, B; UNC13B UNC13;; MUNC13
Asterisk 605837 HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2
NULL 605838 BABY RATTLE PELVIS DYSPLASIA
Caret 605839 MOVED TO 150800
Asterisk 605840 RING FINGER PROTEIN 111; RNF111 ARKADIA, MOUSE, HOMOLOG OF
Percent 605841 NARCOLEPSY 2, SUSCEPTIBILITY TO; NRCLP2
Asterisk 605842 TRANSDUCIN-BETA-LIKE 2; TBL2 WBSCR13
Asterisk 605843 PEROXISOMAL TRANS-2-ENOYL-CoA REDUCTASE; PECR TRANS-2-ENOYL-CoA REDUCTASE, PEROXISOMAL; TERP
Percent 605844 DERMATITIS, ATOPIC, 5; ATOD5
Percent 605845 DERMATITIS, ATOPIC, 6; ATOD6
Asterisk 605846 B-CELL CLL/LYMPHOMA 7B; BCL7B
Asterisk 605847 B-CELL CLL/LYMPHOMA 7C; BCL7C
Asterisk 605848 CASPASE 14, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP14
Asterisk 605849 DIMETHYLGLYCINE DEHYDROGENASE; DMGDH
Number Sign 605850 DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD DMGDH DEFICIENCY
Asterisk 605851 ISOPRENYLCYSTEINE CARBOXYLMETHYLTRANSFERASE; ICMT PRENYLCYSTEINE CARBOXYLMETHYLTRANSFERASE; PCCMT; PCMT
Asterisk 605852 CYTOPLASMIC LINKER-ASSOCIATED PROTEIN 1; CLASP1 CLIP-ASSOCIATED PROTEIN 1
Asterisk 605853 CYTOPLASMIC LINKER-ASSOCIATED PROTEIN 2; CLASP2 CLIP-ASSOCIATED PROTEIN 2
Asterisk 605854 BCL2-BINDING COMPONENT 3; BBC3 p53-UPREGULATED MODULATOR OF APOPTOSIS; PUMA
Asterisk 605855 ATPase, CLASS V, TYPE 10A; ATP10A ATPase, CLASS V, TYPE 10C; ATP10C;; ATPVC
Percent 605856 SHORT STATURE, MENTAL RETARDATION, CALLOSAL AGENESIS, HEMINASAL HYPOPLASIA, MICROPHTHALMIA, AND ATYPICAL CLEFTING
Asterisk 605857 RAS HOMOLOG GENE FAMILY, MEMBER Q; RHOQ RAS-LIKE PROTEIN TC10; TC10;; TC10-ALPHA;; ARHQ
Asterisk 605858 SCRATCH, MOUSE, HOMOLOG OF; SCRT1 SCRT
Asterisk 605859 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 32; ZBTB32 FANCONI ANEMIA ZINC FINGER PROTEIN; FAZF;; TESTIS ZINC FINGER PROTEIN; TZFP;; REPRESSOR OF GATA; ROG
Asterisk 605860 RCAN FAMILY MEMBER 3; RCAN3 DOWN SYNDROME CRITICAL REGION GENE 1-LIKE 2; DSCR1L2;; MYOCYTE-ENRICHED CALCINEURIN-INTERACTING PROTEIN 3; MCIP3
Asterisk 605861 CANOPY FGF SIGNALING REGULATOR 2; CNPY2 CANOPY 2, ZEBRAFISH, HOMOLOG OF;; TRANSMEMBRANE PROTEIN 4; TMEM4;; MIR-INTERACTING SAPOSIN-LIKE PROTEIN; MSAP
Asterisk 605862 RIBITOL XYLOSYLTRANSFERASE 1; RXYLT1 TRANSMEMBRANE PROTEIN 5; TMEM5
Asterisk 605863 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 3; B3GNT3 TRANSMEMBRANE PROTEIN 3; TMEM3
Asterisk 605864 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 4; B3GNT4
Asterisk 605865 TASTE RECEPTOR TYPE 1, MEMBER 3; TAS1R3 T1R3
Asterisk 605866 ATPase, CLASS I, TYPE 8B, MEMBER 3; ATP8B3 ATPIK
Asterisk 605867 ATPase, CLASS I, TYPE 8B, MEMBER 2; ATP8B2 ATPID
Asterisk 605868 ATPase, CLASS VI, TYPE 11A; ATP11A ATPIS;; ATPIH, MOUSE, HOMOLOG OF; ATPIH
Asterisk 605869 ATPase, CLASS VI, TYPE 11B; ATP11B ATPIR
Asterisk 605870 ATPase, CLASS I, TYPE 8A, MEMBER 2; ATP8A2 ATPIB
Caret 605871 MOVED TO 193090
Asterisk 605872 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER M; CLEC4M LIVER/LYMPH NODE-SPECIFIC ICAM3-GRABBING NONINTEGRIN; LSIGN;; CD209 ANTIGEN-LIKE; CD209L;; DCSIGN-RELATED PROTEIN; DCSIGNR
Asterisk 605873 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 10; KCNK10 TWIK-RELATED K+ CHANNEL 2; TREK2
Asterisk 605874 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9 TWIK-RELATED ACID-SENSITIVE K+ CHANNEL 3; TASK3
Asterisk 605875 WASP PROTEIN FAMILY, MEMBER 2; WASF2 WASP FAMILY, MEMBER 2;; WASP FAMILY, VERPROLIN HOMOLOGY DOMAIN-CONTAINING PROTEIN 2; WAVE2;; SCAR, DICTYOSTELIUM, HOMOLOG OF, 2; SCAR2
Asterisk 605876 Fc RECEPTOR-LIKE PROTEIN 4; FCRL4 IMMUNOGLOBULIN SUPERFAMILY RECEPTOR TRANSLOCATION-ASSOCIATED GENE 1; IRTA1
Asterisk 605877 Fc RECEPTOR-LIKE PROTEIN 5; FCRL5 IMMUNOGLOBULIN SUPERFAMILY RECEPTOR TRANSLOCATION-ASSOCIATED GENE 2; IRTA2;; BXMAS1
Asterisk 605878 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7A; ZBTB7A ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7; ZBTB7;; HIV-1 INDUCER OF SHORT TRANSCRIPTS-BINDING FACTOR 1;; HIV-1 IST-BINDING FACTOR 1; FBI1;; LEUKEMIA/LYMPHOMA-RELATED FACTOR; LRF;; POKEMON
Asterisk 605879 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 2; KCNN2 SK2
Asterisk 605880 LYSINE ACETYLTRANSFERASE 6B; KAT6B HISTONE ACETYLTRANSFERASE MYST4; MYST4;; MONOCYTIC LEUKEMIA ZINC FINGER PROTEIN-RELATED FACTOR; MORF MORF/CBF FUSION GENE, INCLUDED
Asterisk 605881 SOLUTE CARRIER FAMILY 35, MEMBER C1; SLC35C1 GDP-FUCOSE TRANSPORTER 1
Asterisk 605882 BRCA1-INTERACTING PROTEIN 1; BRIP1 BRCA1-ASSOCIATED C-TERMINAL HELICASE 1; BACH1;; DELETIONS OF GUANINE-RICH DNA, C. ELEGANS, HOMOLOG OF;; DOG1, HOMOLOG OF;; FANCJ GENE; FANCJ
Asterisk 605883 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 3; LAMP3 LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEIN, DENDRITIC CELL-SPECIFIC; DCLAMP
Asterisk 605884 DYNEIN, AXONEMAL, HEAVY CHAIN 10; DNAH10
Asterisk 605885 SEMAPHORIN 6A; SEMA6A
Asterisk 605886 COMPLEMENT COMPONENT RECEPTOR 1-LIKE; CR1L COMPLEMENT COMPONENT 3b/4b RECEPTOR-LIKE
Caret 605887 MOVED TO 300357
Asterisk 605888 EH DOMAIN-CONTAINING 1; EHD1
Asterisk 605889 PDZ AND LIM DOMAIN PROTEIN 3; PDLIM3 ACTININ-ASSOCIATED LIM PROTEIN; ALP
Asterisk 605890 EH DOMAIN-CONTAINING 2; EHD2
Asterisk 605891 EH DOMAIN-CONTAINING 3; EHD3
Asterisk 605892 EH DOMAIN-CONTAINING 4; EHD4
Asterisk 605893 CDP-DIACYLGLYCEROL-INOSITOL 3-PHOSPHATIDYLTRANSFERASE; CDIPT PHOSPHATIDYLINOSITOL SYNTHASE 1; PIS1
Asterisk 605894 EP300-INTERACTING INHIBITOR OF DIFFERENTIATION 1; EID1 E1A-LIKE INHIBITOR OF DIFFERENTIATION 1;; CREBBP/EP300 INHIBITORY PROTEIN 1; CRI1;; CHROMOSOME 15 OPEN READING FRAME 3; C15ORF3
Asterisk 605895 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E FAMILY, MEMBER 2; EIF4E2 EIF4E FAMILY, MEMBER 2;; EIF4E-LIKE 3; EIF4EL3;; EIF4E HOMOLOGOUS PROTEIN; 4EHP
Asterisk 605896 ENDOTHELIN-CONVERTING ENZYME-LIKE 1; ECEL1 XCE
Asterisk 605897 UDP-GLUCOSE:GLYCOPROTEIN GLUCOSYLTRANSFERASE 1; UGGT1 HUGT1
Asterisk 605898 UDP-GLUCOSE:GLYCOPROTEIN GLUCOSYLTRANSFERASE 2; UGGT2 HUGT2
Number Sign 605899 GLYCINE ENCEPHALOPATHY; GCE HYPERGLYCINEMIA, NONKETOTIC; NKH HYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED; TNH, INCLUDED
Asterisk 605900 PDZ AND LIM DOMAIN PROTEIN 1; PDLIM1 ELFIN;; CLP36, RAT, HOMOLOG OF; CLP36;; C-TERMINAL LIM DOMAIN PROTEIN 1; CLIM1
Asterisk 605901 UROCORTIN III; UCN3 STRESSCOPIN; SCP
Asterisk 605902 UROCORTIN II; UCN2 STRESSCOPIN-RELATED PEPTIDE;; SRP;; UROCORTIN-RELATED PEPTIDE; URP
Asterisk 605903 PDZ AND LIM DOMAIN PROTEIN 7; PDLIM7 LIM DOMAIN PROTEIN ENIGMA; ENIGMA;; LIM MINERALIZATION PROTEIN 1; LMP1
Asterisk 605904 PDZ AND LIM DOMAIN PROTEIN 5; PDLIM5 ENIGMA-LIKE LIM DOMAIN PROTEIN;; ENIGMA HOMOLOG; ENH
Asterisk 605905 DCN1 DOMAIN-CONTAINING PROTEIN 1; DCUN1D1 RP42 HOMOLOG; RP42;; SQUAMOUS CELL CARCINOMA-RELATED ONCOGENE 1; SCCRO1
Asterisk 605906 LIM DOMAIN-BINDING 3; LDB3 Z-BAND ALTERNATIVELY SPLICED PDZ MOTIF-CONTAINING PROTEIN; ZASP;; CYPHER, MOUSE, HOMOLOG OF; CYPHER;; KIAA0613
Asterisk 605907 ALG1, YEAST, HOMOLOG OF; ALG1 ASPARAGINE-LINKED GLYCOSYLATION 1 HOMOLOG;; BETA-1,4 MANNOSYLTRANSFERASE;; HMAT1;; HMT1
Asterisk 605908 MLC1 GENE; MLC1 KIAA0027
Number Sign 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 PARKINSON DISEASE 6, EARLY-ONSET; PARK6 PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO, INCLUDED;; PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1, INCLUDED
Asterisk 605910 ANGIOPOIETIN-LIKE 4; ANGPTL4 PPARG ANGIOPOIETIN-RELATED PROTEIN; PGAR;; FASTING-INDUCED ADIPOSE FACTOR; FIAF;; HEPATIC FIBRINOGEN/ANGIOPOIETIN-RELATED PROTEIN; HFARP
Number Sign 605911 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY; HMGCS2D MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY;; HMGCS2 DEFICIENCY
Asterisk 605912 MATRIX, EXTRACELLULAR, PHOSPHOGLYCOPROTEIN; MEPE EXTRACELLULAR MATRIX PHOSPHOGLYCOPROTEIN, ASARM MOTIF-CONTAINING;; OSTEOBLAST/OSTEOCYTE FACTOR 45; OF45
Percent 605913 BLEEDING DISORDER, EAST TEXAS TYPE BDET
Asterisk 605914 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 12A; TNFRSF12A TYPE I TRANSMEMBRANE PROTEIN FN14; FN14;; TWEAK RECEPTOR; TWEAKR
Asterisk 605915 TRANSDUCIN-BETA-LIKE 3; TBL3
Asterisk 605916 SPECTRIN, BETA, NONERYTHROCYTIC, 5; SPTBN5 SPECTRIN, BETA-V; BSPECV
Asterisk 605917 TPX2, XENOPUS, HOMOLOG OF; TPX2 CHROMOSOME 20 OPEN READING FRAME 1; C20ORF1;; p100
Asterisk 605918 SPONDIN 2; SPON2 MINDIN;; M-SPONDIN
Caret 605919 MOVED TO 300361
Asterisk 605920 STAUFEN, DROSOPHILA, HOMOLOG OF, 2; STAU2
Asterisk 605921 STROMAL INTERACTION MOLECULE 1; STIM1
Asterisk 605922 MYOINOSITOL MONOPHOSPHATASE 2; IMPA2
Asterisk 605923 SRY-BOX 8; SOX8
Asterisk 605924 WD REPEAT-CONTAINING PROTEIN 4; WDR4
Asterisk 605925 PERICENTRIN; PCNT KENDRIN; KEN;; PERICENTRIN B;; PERICENTRIN 2, FORMERLY; PCNT2, FORMERLY
Asterisk 605926 PROTEIN INTERACTING WITH C KINASE 1; PICK1 PICK;; PRKCA-BINDING PROTEIN; PRKCABP;; PROTEIN KINASE C-ALPHA-BINDING PROTEIN
Asterisk 605927 MOUSE DOUBLE MINUTE 2 HOMOLOG, BINDING PROTEIN OF; MTBP MDM2-BINDING PROTEIN
Asterisk 605928 ADP-RIBOSYLATION FACTOR-INTERACTING PROTEIN 1; ARFIP1 ARFAPTIN 1
Asterisk 605929 SORTING NEXIN 2; SNX2
Asterisk 605930 SORTING NEXIN 3; SNX3
Asterisk 605931 SORTING NEXIN 4; SNX4
Asterisk 605932 BETAINE-HOMOCYSTEINE METHYLTRANSFERASE 2; BHMT2
Asterisk 605933 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 4; TM7SF4 DENDRITIC CELL-SPECIFIC TRANSMEMBRANE PROTEIN; DCSTAMP;; INTERLEUKIN 4-INDUCED GENE; FIND;; IL4-INDUCED GENE
Percent 605934 HOLOPROSENCEPHALY 6; HPE6
NULL 605935 ARTHROPATHY, EROSIVE
Asterisk 605936 BRIDGING INTEGRATOR 2; BIN2
Asterisk 605937 SORTING NEXIN 5; SNX5
Asterisk 605938 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS P PROTEIN; PIGP DOWN SYNDROME CRITICAL REGION GENE 5; DSCR5
Asterisk 605939 PHOSPHOLIPASE C, DELTA-4; PLCD4
Asterisk 605940 BRAIN-ABUNDANT SIGNAL PROTEIN, MEMBRANE-ATTACHED, 1; BASP1 BRAIN ACID-SOLUBLE PROTEIN 1;; NAP22, RAT, HOMOLOG OF; NAP22;; CAP23, CHICKEN, HOMOLOG OF; CAP23
Asterisk 605941 SQUAMOUS CELL CARCINOMA ANTIGEN RECOGNIZED BY T CELLS 1; SART1 HOMS1
Asterisk 605942 DERMATAN SULFATE EPIMERASE; DSE SQUAMOUS CELL CARCINOMA ANTIGEN RECOGNIZED BY T CELLS 2; SART2
Asterisk 605943 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 1; GDE1 MEMBRANE INTERACTING PROTEIN OF RGS16; MIR16;; RGS16-INTERACTING MEMBRANE PROTEIN
NULL 605944 LIVER FIBROCYSTIC DISEASE AND POLYDACTYLY
NULL 605945 CRUMPLED HELICES AND SMALL MOUTH
Percent 605946 METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE
Asterisk 605947 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS L PROTEIN; PIGL
Asterisk 605948 G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER B; GPRC5B RETINOIC ACID-INDUCIBLE GENE 2; RAIG2
Asterisk 605949 G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER C; GPRC5C RETINOIC ACID-INDUCIBLE GENE 3; RAIG3
Asterisk 605950 RAS-ASSOCIATED PROTEIN RAB33B; RAB33B
Asterisk 605951 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 3; DPM3 DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE 3;; DOLICHOL-PHOSPHATE-MANNOSE SYNTHASE 3
Asterisk 605952 SORTING NEXIN 9; SNX9 SH3 DOMAIN- AND PX DOMAIN-CONTAINING PROTEIN; SH3PX1
Asterisk 605953 ARF GTPase-ACTIVATING PROTEIN WITH SH3 DOMAIN, ANKYRIN REPEAT, AND PH DOMAIN 1; ASAP1 ADP-RIBOSYLATION FACTOR-DIRECTED GTPase-ACTIVATING PROTEIN;; ARF GTPase-ACTIVATING PROTEIN 1;; DEVELOPMENT- AND DIFFERENTIATION-ENHANCING FACTOR 1; DDEF1
Asterisk 605954 FETUIN B; FETUB
Asterisk 605955 NK6, DROSOPHILA, HOMOLOG OF, 2; NKX6-2 HOMEOBOX 6B, NK;; NKX6B;; NK HOMEOBOX, FAMILY 6, MEMBER B;; NKX6.2, MOUSE, HOMOLOG OF
Asterisk 605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15
Caret 605957 MOVED TO 600965
Asterisk 605958 TRAF-INTERACTING PROTEIN; TRAIP TRIP;; RING FINGER PROTEIN 206; RNF206
Asterisk 605959 HR44 ANTIGEN HR44
Asterisk 605960 EXOSOME COMPONENT 10; EXOSC10 POLYMYOSITIS/SCLERODERMA AUTOANTIGEN 2; PMSCL2;; POLYMYOSITIS/SCLERODERMA AUTOANTIGEN, 100-KD;; PMSCL AUTOANTIGEN, 100-KD
Asterisk 605961 PLEIOTROPIC REGULATOR 1; PLRG1 PRL1, ARABIDOPSIS, HOMOLOG OF; PRL1
Asterisk 605962 RAB9 EFFECTOR PROTEIN WITH KELCH MOTIFS; RABEPK RAB9 EFFECTOR, 40-KD; p40
Asterisk 605963 SORTING NEXIN 17; SNX17
Asterisk 605964 SORTING NEXIN 15; SNX15
Asterisk 605965 RAS AND RAB INTERACTOR 1; RIN1 RAS INHIBITOR 1
Asterisk 605966 HEPATOCYTE NUCLEAR FACTOR 4-GAMMA; HNF4G HNF4-GAMMA
Percent 605967 ACROPECTORAL SYNDROME; ACRPS ACRP SYNDROME;; DUNDAR ACROPECTORAL SYNDROME;; SYNDACTYLY, PREAXIAL POLYDACTYLY, AND STERNAL DEFORMITY
Asterisk 605968 RET FINGER PROTEIN-LIKE 1; RFPL1 RFP-LIKE 1
Asterisk 605969 RET FINGER PROTEIN-LIKE 2; RFPL2 RFP-LIKE 2
Asterisk 605970 RET FINGER PROTEIN-LIKE 3; RFPL3 RFP-LIKE 3
Asterisk 605971 RET FINGER PROTEIN-LIKE 3, ANTISENSE; RFPL3S RFP-LIKE 3, ANTISENSE
Asterisk 605972 RET FINGER PROTEIN-LIKE 1, ANTISENSE; RFPL1S RFP-LIKE 1, ANTISENSE
Asterisk 605973 DDB1- AND CUL4-ASSOCIATED FACTOR 7; DCAF7 AN11, PETUNIA, HOMOLOG OF; AN11
Asterisk 605974 SLU7 SPLICING FACTOR, S. CEREVISIAE, HOMOLOG OF; SLU7
Asterisk 605975 SERINE/ARGININE REPETITIVE MATRIX PROTEIN 1; SRRM1 SERINE/ARGININE-RICH SPLICING FACTOR-RELATED NUCLEAR MATRIX PROTEIN, 160-KD;; SR-RELATED NUCLEAR MATRIX PROTEIN, 160-KD; SRM160
Asterisk 605976 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 6; ZBTB6 ZINC FINGER PROTEIN WITH INTERACTION DOMAIN; ZID
Asterisk 605977 INNER MITOCHONDRIAL MEMBRANE PEPTIDASE, SUBUNIT 2, S. CEREVISIAE, HOMOLOG OF; IMMP2L IMP2, S. CEREVISIAE, HOMOLOG OF; IMP2;; IMP2-LIKE
Asterisk 605978 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, A; VPS13A CHAC GENE; CHAC;; CHOREIN;; KIAA0986
Asterisk 605979 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 5; SNAPC5 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, 19-KD SUBUNIT; SNAP19
Asterisk 605980 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 1; NOD1 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 4; CARD4
Asterisk 605981 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 1; UBR1
Caret 605982 MOVED TO 194070
Asterisk 605983 PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, ALPHA; PPP2R1A PROTEIN PHOSPHATASE 2, 65-KD REGULATORY SUBUNIT A, ALPHA;; PR65-ALPHA
Asterisk 605984 EMBRYONIC ECTODERM DEVELOPMENT PROTEIN, MOUSE, HOMOLOG OF; EED EED, MOUSE, HOMOLOG OF;; WD PROTEIN ASSOCIATING WITH INTEGRIN CYTOPLASMIC TAILS 1; WAIT1
Caret 605985 MOVED TO 300408
Asterisk 605986 SERINE/THREONINE KINASE RECEPTOR-ASSOCIATED PROTEIN; STRAP UNR-INTERACTING PROTEIN; UNRIP;; MITOGEN-ACTIVATED PROTEIN KINASE ACTIVATOR WITH WD REPEATS; MAWD;; MAPK ACTIVATOR WITH WD REPEATS
Asterisk 605987 PROTEIN INHIBITOR OF ACTIVATED STAT3 PIAS3
Asterisk 605988 DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C ARTEMIS
Asterisk 605989 PROTEIN INHIBITOR OF ACTIVATED STAT4; PIAS4 PROTEIN INHIBITOR OF ACTIVATED STAT Y; PIASY
Number Sign 605990 NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO UAN;; UROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO
Asterisk 605991 NEURONAL GUANINE NUCLEOTIDE EXCHANGE FACTOR; NGEF GUANINE NUCLEOTIDE EXCHANGE FACTOR, NEURONAL;; EPH RECEPTOR-INTERACTING EXCHANGE PROTEIN;; EPHEXIN;; EPHEXIN 1
Asterisk 605992 LIM HOMEOBOX PROTEIN 5; LHX5
Asterisk 605993 PYRUVATE DEHYDROGENASE PHOSPHATASE CATALYTIC SUBUNIT 1; PDP1 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 2C; PPM2C;; PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 2, CATALYTIC SUBUNIT;; PYRUVATE DEHYDROGENASE PHOSPHATASE; PDP1;; PYRUVATE DEHYDROGENASE PHOSPHATASE, CATALYTIC SUBUNIT; PDPC
Asterisk 605994 CYTOCHROME P450, FAMILY 39, SUBFAMILY A, POLYPEPTIDE 1; CYP39A1 OXYSTEROL 7-ALPHA-HYDROXYLASE 2
Asterisk 605995 KINESIN FAMILY MEMBER 1B; KIF1B KIAA0591
Asterisk 605996 DOM3, C. ELEGANS, HOMOLOG OF, Z; DOM3Z RAT1-INTERACTING PROTEIN 1, S. CEREVISIAE, HOMOLOG OF; RAI1
Asterisk 605997 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, GAMMA ISOFORM; PPP2R2C PROTEIN PHOSPHATASE 2A, REGULATORY SUBUNIT B, GAMMA ISOFORM;; PR52;; B55-GAMMA
Asterisk 605998 HCLS1-ASSOCIATED PROTEIN X1; HAX1
Asterisk 605999 C-TYPE LECTIN DOMAIN FAMILY 10, MEMBER A; CLEC10A LECTIN, C-TYPE, SUPERFAMILY MEMBER 14; CLECSF14;; MACROPHAGE GALACTOSE-TYPE C-TYPE LECTIN; MGL;; HML;; CD301
Asterisk 606000 BUTYROPHILIN-LIKE PROTEIN 2; BTNL2 BUTYROPHILIN-LIKE PROTEIN, MAJOR HISTOCOMPATIBILITY COMPLEX CLASS II-ASSOCIATED;; BTL II
Asterisk 606001 INTERLEUKIN 32; IL32 NATURAL KILLER CELL TRANSCRIPT 4; NK4
Number Sign 606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1 ATAXIA-OCULOMOTOR APRAXIA 2; AOA2;; ATAXIA-OCULAR APRAXIA 2
Number Sign 606003 TRANSALDOLASE DEFICIENCY EYAID SYNDROME;; TALDO DEFICIENCY
Asterisk 606004 GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN 1; GGA1 ADP-RIBOSYLATION FACTOR-BINDING PROTEIN 1;; ARF-BINDING PROTEIN 1
Asterisk 606005 GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN 2; GGA2 VHS DOMAIN- AND EAR DOMAIN-CONTAINING PROTEIN; VEAR;; ADP-RIBOSYLATION FACTOR-BINDING PROTEIN 2;; ARF-BINDING PROTEIN 2
Asterisk 606006 GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN 3; GGA3 ADP-RIBOSYLATION FACTOR-BINDING PROTEIN 3;; ARF-BINDING PROTEIN 3;; KIAA0154
Asterisk 606007 POLYMERASE III, RNA, SUBUNIT K; POLR3K RNA POLYMERASE III, 12.3-KD SUBUNIT;; RPC11, S. CEREVISIAE, HOMOLOG OF; RPC11; C11
Asterisk 606008 NATURAL KILLER CELL GROUP 7 SEQUENCE; NKG7 GCSF-INDUCED GENE 1; GIG1
Asterisk 606009 DOUBLE HOMEOBOX PROTEIN 4; DUX4 D4Z4 MACROSATELLITE REPEAT, INCLUDED
Asterisk 606010 NUCLEAR RECEPTOR-BINDING PROTEIN 1; NRBP1
Asterisk 606011 V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 2; VSIG2 CTX, XENOPUS, HOMOLOG-LIKE; CTXL;; CTH
Percent 606012 DEAFNESS, AUTOSOMAL DOMINANT 18; DFNA18
Asterisk 606013 F-BOX ONLY PROTEIN 5; FBXO5 FBX5;; EMI1, XENOPUS, HOMOLOG OF; EMI1
Asterisk 606014 ARISTALESS-LIKE HOMEOBOX 3; ALX3
Asterisk 606015 FAS APOPTOTIC INHIBITORY MOLECULE 3; FAIM3 TOSO;; Fc FRAGMENT OF IgM, RECEPTOR FOR; FCMR
Asterisk 606016 KELCH-LIKE ECH-ASSOCIATED PROTEIN 1; KEAP1
Asterisk 606017 POLYMERASE II, RNA, SUBUNIT D; POLR2D RPB4, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 16.3-KD SUBUNIT
Asterisk 606018 EGF-LIKE REPEATS- AND DISCOIDIN I-LIKE DOMAINS-CONTAINING PROTEIN 3; EDIL3 DEVELOPMENTALLY REGULATED ENDOTHELIAL CELL LOCUS 1; DEL1
Asterisk 606019 EXOSOME COMPONENT 8; EXOSC8 OPA-INTERACTING PROTEIN 2; OIP2;; RIBOSOMAL RNA-PROCESSING PROTEIN 43, S. CEREVISIAE, HOMOLOG OF; RRP43
Asterisk 606020 OPA-INTERACTING PROTEIN 5; OIP5
Asterisk 606021 PREFERENTIALLY EXPRESSED ANTIGEN IN MELANOMA; PRAME MAPE;; OPA-INTERACTING PROTEIN 4; OIP4
Asterisk 606022 NUDIX HYDROLASE 9; NUDT9 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 9;; NUDIX MOTIF 9
Asterisk 606023 POLYMERASE II, RNA, SUBUNIT H; POLR2H RPB8, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 17-KD SUBUNIT
Caret 606024 MOVED TO 604753
Asterisk 606025 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 20; ZBTB20 ZINC FINGER PROTEIN 288; ZNF288;; DENDRITIC-DERIVED BTB/POZ ZINC FINGER; DPZF;; HOF
Asterisk 606026 WHS CANDIDATE 2 GENE; WHSC2 WOLF-HIRSCHHORN SYNDROME CANDIDATE 2;; NEGATIVE ELONGATION FACTOR POLYPEPTIDE A; NELFA
Asterisk 606027 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 1; CPSF1 CLEAVAGE-POLYADENYLATION SPECIFICITY FACTOR, 160-KD SUBUNIT; CPSF160
Asterisk 606028 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 2; CPSF2 CLEAVAGE-POLYADENYLATION SPECIFICITY FACTOR, 100-KD SUBUNIT; CPSF100
Asterisk 606029 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 3; CPSF3 CLEAVAGE-POLYADENYLATION SPECIFICITY FACTOR, 73-KD SUBUNIT; CPSF73
Asterisk 606030 ENHANCER OF mRNA DECAPPING 4; EDC4 AUTOANTIGEN RCD8; RCD8;; GE1;; HUMAN ENHANCER OF DECAPPING, LARGE SUBUNIT; HEDLS
Asterisk 606031 WD REPEAT-CONTAINING PROTEIN 6; WDR6
Asterisk 606032 SERINE/ARGININE REPETITIVE MATRIX PROTEIN 2; SRRM2 SERINE/ARGININE-RICH SPLICING FACTOR-RELATED NUCLEAR MATRIX PROTEIN, 300-KD;; SR-RELATED NUCLEAR MATRIX PROTEIN, 300-KD; SRM300;; SRL300
Asterisk 606033 POLYMERASE II, RNA, SUBUNIT K; POLR2K RPB10-ALPHA, S. CEREVISIAE, HOMOLOG OF; RPB12;; RNA POLYMERASE II, 7-KD SUBUNIT
Asterisk 606034 RIBONUCLEASE H2, SUBUNIT A; RNASEH2A RIBONUCLEASE H2, LARGE SUBUNIT;; RIBONUCLEASE HI, LARGE SUBUNIT;; RNase HI, LARGE SUBUNIT
Percent 606035 FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1; FIQTL1
Asterisk 606036 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR 2; ARNT2
Asterisk 606037 CD96 ANTIGEN; CD96 T-CELL ACTIVATION ANTIGEN, INCREASED LATE EXPRESSION; TACTILE
Asterisk 606038 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G6D; LY6G6D G6D;; MEGAKARYOCYTE-ENHANCED GENE TRANSCRIPT 1; MEGT1
Asterisk 606039 HYDROXYCARBOXYLIC ACID RECEPTOR 3; HCAR3 HCA3;; G PROTEIN-COUPLED RECEPTOR 109B; GPR109B;; CHEMOKINE RECEPTOR HM74; HM74
Asterisk 606040 WD REPEAT-CONTAINING PROTEIN 8; WDR8
Asterisk 606041 SPARC-LIKE PROTEIN 1; SPARCL1 HIGH ENDOTHELIAL VENULE PROTEIN; HEVIN
Asterisk 606042 MYONEURIN; MYNN
Asterisk 606043 ZINC FINGER PROTEIN 331; ZNF331 ZINC FINGER PROTEIN 463; ZNF463;; REARRANGED IN THYROID ADENOMAS; RITA
Asterisk 606044 SJOGREN SYNDROME/SCLERODERMA AUTOANTIGEN 1; SSSCA1 CENTROMERIC AUTOANTIGEN, 27-KD
Asterisk 606045 INTRAFLAGELLAR TRANSPORT 122, CHLAMYDOMONAS, HOMOLOG OF; IFT122 WD REPEAT-CONTAINING PROTEIN 10; WDR10
Asterisk 606046 SYNTAXIN 18; STX18
Asterisk 606047 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 5; LILRA5 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 9; LIR9;; IMMUNOGLOBULIN-LIKE TRANSCRIPT 11; ILT11;; CD85F
Asterisk 606048 MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 7; MBOAT7 LYSOPHOSPHATIDYLINOSITOL ACYLTRANSFERASE; LPIAT;; MEMBRANE-BOUND O-ACETYLTRANSFERASE 7;; LEUKOCYTE RECEPTOR CLUSTER GENE 4; LENG4;; BREAST AND BLADDER CANCER OVEREXPRESSED GENE 1; BB1
Percent 606049 ACROMEGALOID FEATURES, OVERGROWTH, CLEFT PALATE, AND HERNIA AOCH
Asterisk 606050 UBIQUITIN D; UBD DIUBIQUITIN;; FAT10
Asterisk 606051 SECRETION-REGULATING GUANINE NUCLEOTIDE EXCHANGE FACTOR; SERGEF DEAFNESS LOCUS-ASSOCIATED PUTATIVE GUANINE NUCLEOTIDE EXCHANGE FACTOR; DELGEF
Caret 606052 MOVED TO 607745
Percent 606053 AUTISM, SUSCEPTIBILITY TO, 5; AUTS5 PHRASE SPEECH DELAY, AUTISM-RELATED;; AUTISM-RELATED SPEECH DELAY
Number Sign 606054 PROPIONIC ACIDEMIA PROPIONYL-CoA CARBOXYLASE DEFICIENCY;; PCC DEFICIENCY;; GLYCINEMIA, KETOTIC;; HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA;; KETOTIC HYPERGLYCINEMIA
Asterisk 606055 PHOSPHATIDYLCHOLINE TRANSFER PROTEIN; PCTP START DOMAIN-CONTAINING PROTEIN 2; STARD2
Number Sign 606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B CDG IIb; CDGIIb;; GLUCOSIDASE I DEFICIENCY
Asterisk 606057 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; RAPGEF3 cAMP-REGULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR I;; cAMP-GEFI;; EXCHANGE PROTEIN ACTIVATED BY cAMP; EPAC;; EPAC1
Asterisk 606058 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR; RAPGEF4 cAMP-REGULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR II;; cAMP-GEFII;; EPAC2
Asterisk 606059 PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR ALPHA; PKIA
Asterisk 606060 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 12; DNAJC12 J DOMAIN-CONTAINING PROTEIN 1; JDP1
Asterisk 606061 T-BOX 20; TBX20
Asterisk 606062 STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; SMC3 CHONDROITIN SULFATE PROTEOGLYCAN 6; CSPG6;; BAMACAN; BAM;; HUMAN CHROMOSOME-ASSOCIATED POLYPEPTIDE; HCAP
Asterisk 606063 EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; EXO1 HEX1
Asterisk 606064 CD248 ANTIGEN; CD248 TUMOR ENDOTHELIAL MARKER 1; TEM1;; ENDOSIALIN
Asterisk 606065 ATYPICAL CHEMOKINE RECEPTOR 4; ACKR4 CHEMOKINE, CC MOTIF, RECEPTOR-LIKE PROTEIN 1; CCRL1;; PPR1, BOVINE, HOMOLOG OF; PPR1
Asterisk 606066 LIM HOMEOBOX GENE 9; LHX9
Asterisk 606067 OTORAPLIN; OTOR
Number Sign 606068 RETINITIS PIGMENTOSA 28; RP28
Number Sign 606069 HEMOCHROMATOSIS, TYPE 4; HFE4 HEMOCHROMATOSIS, AUTOSOMAL DOMINANT;; HEMOCHROMATOSIS DUE TO DEFECT IN FERROPORTIN
Number Sign 606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21 MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;; VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY; VCPDM, FORMERLY
Number Sign 606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C HMSN IIC;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C; CMT2C;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2C
Number Sign 606072 RIPPLING MUSCLE DISEASE 2; RMD2 RIPPLING MUSCLE DISEASE; RMD
Asterisk 606073 NADPH-DEPENDENT DIFLAVIN OXIDOREDUCTASE 1; NDOR1 NADPH-DEPENDENT FMN- AND FAD-CONTAINING OXIDOREDUCTASE;; NR1
Asterisk 606074 GLOBOSIDE ALPHA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE; GBGT1 FORSSMAN SYNTHETASE; FS
Asterisk 606075 TWINKLE mtDNA HELICASE; TWNK CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2;; T7 GENE 4-LIKE PROTEIN WITH INTRAMITOCHONDRIAL NUCLEOID LOCALIZATION; TWINKLE;; p72 TWINKY, INCLUDED
Asterisk 606076 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 3; PIK3R3 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT, 55-KD, GAMMA;; p55-GAMMA
Asterisk 606077 RNA-BINDING MOTIF PROTEIN 15; RBM15 OTT;; ONE-TWENTY TWO PROTEIN 1; OTT1 RBM15/MKL1 FUSION GENE, INCLUDED
Asterisk 606078 MEGAKARYOBLASTIC LEUKEMIA 1 GENE; MKL1 MAL;; MYOCARDIN-RELATED PROTEIN;; MRTFA MKL1/RBM15 FUSION GENE, INCLUDED
Asterisk 606079 CD163 ANTIGEN-LIKE 1; CD163L1 CD163 ANTIGEN B; CD163B;; SCAVENGER RECEPTOR M160; M160
Asterisk 606080 CHITINASE, ACIDIC; CHIA ACIDIC MAMMALIAN CHITINASE; AMCase
Asterisk 606081 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 70, YEAST, HOMOLOG OF, A; TOMM70A
Percent 606082 GOITER, MULTINODULAR 3; MNG3
Asterisk 606083 POLYBROMO 1, CHICKEN, HOMOLOG OF; PBRM1 PB1;; BRG1-ASSOCIATED FACTOR, 180-KD; BAF180
Asterisk 606084 CDC42 EFFECTOR PROTEIN 1; CDC42EP1 CEP1;; BONE MARROW STROMAL/ENDOTHELIAL CELL PROTEIN, 55-KD; MSE55
Asterisk 606085 TESTIS-DERIVED TRANSCRIPT; TES TESTIN
Asterisk 606086 EUKARYOTIC TRANSLATION INITIATION FACTOR 5B; EIF5B TRANSLATION INITIATION FACTOR IF2; IF2
Asterisk 606087 DESMUSLIN; DMN
Asterisk 606088 PHOSPHOLIPASE A2, GROUP IVB; PLA2G4B PHOSPHOLIPASE A2, CYTOSOLIC, CALCIUM-DEPENDENT, BETA;; CPLA2-BETA
Asterisk 606089 BRAIN CYTOPLASMIC RNA 1; BCYRN1 BC200 RNA; BC200;; BC200-ALPHA
Asterisk 606090 CARNITINE OCTANOYLTRANSFERASE; CROT COT
Asterisk 606091 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 10; SIGLEC10
Asterisk 606092 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 14; DNAJC14 DOPAMINE RECEPTOR-INTERACTING PROTEIN, 78-KD; DRIP78;; HEAT-SHOCK PROTEIN, DNAJ-LIKE 3; HDJ3
Asterisk 606093 PEPTIDYL-PROLYL ISOMERASE G; PPIG CYCLOPHILIN G
Asterisk 606094 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 12; SIGLEC12 SIGLEC-LIKE PROTEIN 1; SIGLECL1;; SIGLEC-LIKE GENE; SLG;; S2V
Asterisk 606095 PEPTIDYL-PROLYL ISOMERASE H; PPIH CYCLOPHILIN H
Asterisk 606096 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 12 LGALS12;; GALECTIN 12
Asterisk 606097 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN
Asterisk 606098 SORTING NEXIN 6; SNX6
Asterisk 606099 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 8; LGALS8 GALECTIN 8;; PROSTATE CARCINOMA TUMOR ANTIGEN 1; PCTA1
Asterisk 606100 ADHESION G PROTEIN-COUPLED RECEPTOR E2; ADGRE2 EGF-LIKE MODULE-CONTAINING, MUCIN-LIKE HORMONE RECEPTOR 2; EMR2
Asterisk 606101 ADHESION G PROTEIN-COUPLED RECEPTOR E3; ADGRE3 EGF-LIKE MODULE-CONTAINING, MUCIN-LIKE HORMONE RECEPTOR 3; EMR3
Asterisk 606102 PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE I, GAMMA; PIP5K1C PIP5K1-GAMMA
Asterisk 606103 SESTRIN 1; SESN1 SEST1;; p53-ACTIVATED GENE 26;; PA26
Caret 606104 MOVED TO 124000
Asterisk 606105 SOLUTE CARRIER FAMILY 44, MEMBER 1; SLC44A1 CHOLINE TRANSPORTER-LIKE PROTEIN 1; CTL1;; CDW92
Asterisk 606106 SOLUTE CARRIER FAMILY 44, MEMBER 2; SLC44A2 CHOLINE TRANSPORTER-LIKE PROTEIN 2; CTL2
Asterisk 606107 SOLUTE CARRIER FAMILY 44, MEMBER 4; SLC44A4 CHOLINE TRANSPORTER-LIKE PROTEIN 4; CTL4;; THIAMINE PYROPHOSPHATE TRANSPORTER; TPPT;; TPP TRANSPORTER;; CHROMOSOME 6 OPEN READING FRAME 29; C6ORF29
Asterisk 606108 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1A; PPM1A PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1A;; PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, ALPHA ISOFORM;; PROTEIN PHOSPHATASE 2C, ALPHA ISOFORM; PP2CA;; PP2C-ALPHA
Asterisk 606109 NUDC DOMAIN-CONTAINING PROTEIN 1; NUDCD1 IMMUNOGENIC TUMOR ANTIGEN CML66; CML66
Asterisk 606110 LY6/NEUROTOXIN 1; LYNX1 SECRETED LY6/PLAUR DOMAIN-CONTAINING PROTEIN 2; SLURP2;; SECRETED LY6/UPAR-RELATED PROTEIN 2
Asterisk 606111 MELANIN-CONCENTRATING HORMONE RECEPTOR 2; MCHR2 MCH2R;; MCH2;; SLT
Asterisk 606112 RIBONUCLEASE P, 14-KD SUBUNIT; RPP14
Asterisk 606113 PROCESSING OF PRECURSOR 7, S. CEREVISIAE, HOMOLOG OF; POP7 RIBONUCLEASE P, 20-KD SUBUNIT; RPP20
Asterisk 606114 PROCESSING OF PRECURSOR 4, S. CEREVISIAE, HOMOLOG OF; POP4 RIBONUCLEASE P/MRP SUBUNIT, 29-KD SUBUNIT; RPP29;; RIBONUCLEASE P, 29-KD SUBUNIT
Asterisk 606115 RIBONUCLEASE P/MRP, 30-KD SUBUNIT; RPP30 RIBONUCLEASE P, 30-KD SUBUNIT
Asterisk 606116 RIBONUCLEASE P/MRP, 38-KD SUBUNIT; RPP38 RIBONUCLEASE P, 38-KD SUBUNIT
Asterisk 606117 RIBONUCLEASE P, 40-KD SUBUNIT; RPP40
Asterisk 606118 HPS3 GENE; HPS3 COCOA, MOUSE, HOMOLOG OF
Asterisk 606119 SECRETED LY6/PLAUR DOMAIN-CONTAINING PROTEIN 1; SLURP1 SECRETED LY6/UPAR-RELATED PROTEIN 1;; ARS COMPONENT B;; ARS COMPONENT B-81/S PRECURSOR
Caret 606120 MOVED TO 561010
Asterisk 606121 CALCITONIN GENE-RELATED PEPTIDE RECEPTOR COMPONENT PROTEIN CGRP RECEPTOR COMPONENT PROTEIN; CGRPRCP; RCP;; CGRPR COMPONENT PROTEIN
Asterisk 606122 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 19; TNFRSF19 TOXICITY AND JNK INDUCER; TAJ;; TROY
Asterisk 606123 RING FINGER PROTEIN 16; RNF16 TESTIS RING FINGER PROTEIN; TERF
Asterisk 606124 RING FINGER PROTEIN 18; RNF18
Asterisk 606125 TRIPARTITE MOTIF-CONTAINING PROTEIN 8; TRIM8 RING FINGER PROTEIN 27; RNF27;; GLIOBLASTOMA-EXPRESSED RING FINGER PROTEIN; GERP
Asterisk 606126 APOPTOSIS REGULATOR BCLG BCLG
Asterisk 606127 MYOCARDIN; MYOCD MYCD
Caret 606128 MOVED TO 606078
Percent 606129 DIAMOND-BLACKFAN ANEMIA 2; DBA2
Asterisk 606130 RING FINGER PROTEIN 26; RNF26
Asterisk 606131 TRIPARTITE MOTIF-CONTAINING PROTEIN 63; TRIM63 E3 UBIQUITIN PROTEIN LIGASE TRIM63;; RING FINGER PROTEIN 28; RNF28;; STRIATED MUSCLE RING ZINC FINGER PROTEIN; SMRZ;; MUSCLE-SPECIFIC RING FINGER PROTEIN 1; MURF1
Asterisk 606132 CDC42 EFFECTOR PROTEIN 2; CDC42EP2 CEP2;; BINDER OF RHO GTPases 1; BORG1
Asterisk 606133 CDC42 EFFECTOR PROTEIN 3; CDC42EP3 CEP3;; BINDER OF RHO GTPases 2; BORG2
Asterisk 606134 REV1, S. CEREVISIAE, HOMOLOG OF; REV1L REV1;; ALPHA-INTEGRIN-BINDING PROTEIN 80
Asterisk 606135 KALLIKREIN-RELATED PEPTIDASE 14; KLK14 KALLIKREIN 14
Asterisk 606136 RAS PROTEIN ACTIVATOR-LIKE 2; RASAL2 NGAP
Asterisk 606137 CELL GROWTH REGULATOR WITH EF-HAND DOMAIN 1; CGREF1 CELL GROWTH REGULATORY GENE 11; CGR11
Asterisk 606138 CELL GROWTH REGULATOR WITH RING FINGER DOMAIN 1; CGRRF1 CELL GROWTH REGULATORY GENE 19; CGR19
Asterisk 606139 KRUPPEL-LIKE FACTOR 16; KLF16 BASIC TRANSCRIPTION ELEMENT-BINDING PROTEIN 4; BTEB4;; DOPAMINE RECEPTOR-REGULATING FACTOR; DRRF
Asterisk 606140 EXPORTIN 7; XPO7 RAN-BINDING PROTEIN 16; RANBP16
Asterisk 606141 RAN-BINDING PROTEIN 17; RANBP17
Asterisk 606142 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 9; SLC2A9 GLUCOSE TRANSPORTER 9; GLUT9
Asterisk 606143 FRIZZLED, DROSOPHILA, HOMOLOG OF, 3; FZD3
Asterisk 606144 RAS-ASSOCIATED PROTEIN RAB23; RAB23
Asterisk 606145 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 10; SLC2A10 GLUCOSE TRANSPORTER 10; GLUT10
Asterisk 606146 FRIZZLED, DROSOPHILA, HOMOLOG OF, 8; FZD8
Asterisk 606147 FRIZZLED, DROSOPHILA, HOMOLOG OF, 10; FZD10
Asterisk 606148 FATTY ACID DESATURASE 1; FADS1
Asterisk 606149 FATTY ACID DESATURASE 2; FADS2
Asterisk 606150 FATTY ACID DESATURASE 3; FADS3
Asterisk 606151 BBS2 GENE; BBS2
Asterisk 606152 SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 3; SLC19A3 THIAMINE TRANSPORTER 2; THTR2
Asterisk 606153 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, EPSILON SUBUNIT; ATP5E
Asterisk 606154 MUCIN 16; MUC16 OVARIAN CARCINOMA ANTIGEN CA125
Caret 606155 MOVED TO 243310
NULL 606156 SENER SYNDROME FRONTONASAL DYSPLASIA AND DILATED VIRCHOW-ROBIN SPACES
Asterisk 606157 PANTOTHENATE KINASE 2; PANK2
Asterisk 606158 BSCL2 GENE; BSCL2 SEIPIN;; GNG3LG, MOUSE, HOMOLOG OF
Number Sign 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3 NEUROFERRITINOPATHY;; BASAL GANGLIA DISEASE, ADULT-ONSET
Asterisk 606160 PANTOTHENATE KINASE 1; PANK1
Asterisk 606161 PANTOTHENATE KINASE 3; PANK3
Asterisk 606162 PANTOTHENATE KINASE 4; PANK4
Caret 606163 MOVED TO 300829
Number Sign 606164 DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15
Asterisk 606165 BOL-LIKE; BOLL BOULE, DROSOPHILA, HOMOLOG OF; BOULE
Caret 606166 MOVED TO 603100
Asterisk 606167 G PROTEIN-COUPLED RECEPTOR 132; GPR132 G2 ACCUMULATION PROTEIN; G2A
Asterisk 606168 DEAD/H BOX 20; DDX20 DP103;; GEMIN3
Caret 606169 MOVED TO 277410
Number Sign 606170 GENITOPATELLAR SYNDROME; GTPTS ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION
Asterisk 606171 TRANSFER RNA SERINE 1; TRNAS1 tRNA SERINE 1; TRS1
Asterisk 606172 TRANSFER RNA SERINE (TGA) 4-1; TRS-TGA4-1 TRANSFER RNA SERINE 3; TRNAS3;; tRNA SERINE 3; TRS3
Asterisk 606173 GrpE, E. COLI, HOMOLOG OF, 1; GRPEL1 GrpE-LIKE 1;; HUMAN MITOCHONDRIAL GrpE PROTEIN; HMGE
NULL 606174 BACULUM, CONGENITAL ABSENCE OF OS PENIS, CONGENITAL ABSENCE OF
NULL 606175 CARNITINE ACETYLTRANSFERASE DEFICIENCY
Number Sign 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM DIABETES MELLITUS, PERMANENT, OF INFANCY; PDMI DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED;; DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES, INCLUDED; DEND, INCLUDED
NULL 606177 PARS PLANITIS
Asterisk 606178 HEDGEHOG-INTERACTING PROTEIN; HHIP HIP
NULL 606179 ANEURYSMAL BONE CYSTS
Asterisk 606180 EXOSOME COMPONENT 9; EXOSC9 POLYMYOSITIS/SCLERODERMA AUTOANTIGEN 1; PMSCL1;; POLYMYOSITIS/SCLERODERMA AUTOANTIGEN, 75-KD;; PMSCL AUTOANTIGEN, 75-KD
Asterisk 606181 DEAD/H BOX 24; DDX24
Asterisk 606182 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 9; TNFSF9 4-1BB-L, MOUSE, HOMOLOG OF;; CD137 LIGAND; CD137L
NULL 606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY
Asterisk 606184 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 12; ADAMTS12
Asterisk 606185 TUMOR PROTEIN p53-INDUCIBLE NUCLEAR PROTEIN 1; TP53INP1 p53-DEPENDENT DAMAGE-INDUCIBLE NUCLEAR PROTEIN 1; P53DINP1
Asterisk 606186 CALCYCLIN-BINDING PROTEIN; CACYBP SIAH1-INTERACTING PROTEIN; SIP
Percent 606187 ALZHEIMER DISEASE 7 ALZHEIMER DISEASE, FAMILIAL, 7;; AD7
Asterisk 606188 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 28; ADAM28 METALLOPROTEINASE-LIKE, DISINTEGRIN-LIKE, AND CYSTEINE-RICH PROTEIN, LYMPHOCYTE-EXPRESSED; MDCL
Asterisk 606189 CYSTEINE-RICH MOTOR NEURON PROTEIN 1; CRIM1
NULL 606190 MENINGIOMA, RADIATION-INDUCED MNRI
Asterisk 606191 FORMIN-BINDING PROTEIN 1; FNBP1 FORMIN-BINDING PROTEIN 17; FBP17 FBP17/MLL FUSION GENE, INCLUDED
Asterisk 606192 BUTYROPHILIN-LIKE PROTEIN 3; BTNL3
Asterisk 606193 SOLUTE CARRIER FAMILY 13 (SODIUM/SULFATE SYMPORTER), MEMBER 1; SLC13A1 SODIUM-INORGANIC SULFATE COTRANSPORTER 1; NASI1; NAS1
Asterisk 606194 KERATIN 23, TYPE I; KRT23 K23;; KA23
Asterisk 606195 IROQUOIS HOMEOBOX PROTEIN 5; IRX5 IRXB2
Asterisk 606196 IROQUOIS HOMEOBOX PROTEIN 6; IRX6 IRXB3;; IROQUOIS HOMEOBOX PROTEIN 7, FORMERLY; IRX7, FORMERLY
Asterisk 606197 IROQUOIS HOMEOBOX PROTEIN 1; IRX1 IRXA1
Asterisk 606198 IROQUOIS HOMEOBOX PROTEIN 2; IRX2 IRXA2
Asterisk 606199 IROQUOIS HOMEOBOX PROTEIN 4; IRX4 IRXA3
Asterisk 606200 BASIC HELIX-LOOP-HELIX FAMILY, MEMBER E41; BHLHE41 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 3; BHLHB3 DIFFERENTIALLY EXPRESSED IN CHONDROCYTES 2; DEC2;; ENHANCER OF SPLIT- AND HAIRY-RELATED PROTEIN 1, RAT, HOMOLOG OF; SHARP1
Asterisk 606201 WFS1 GENE; WFS1 WOLFRAMIN
Asterisk 606202 SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2 MEMBRANE-ASSOCIATED TRANSPORTER PROTEIN; MATP;; MELANOMA ANTIGEN AIM1; AIM1
Asterisk 606203 GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2 KIAA0571
Asterisk 606204 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS D; LY6D E48 ANTIGEN; E48
Asterisk 606205 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, L-PROLINE), MEMBER 7; SLC6A7 L-PROLINE TRANSPORTER, BRAIN-SPECIFIC; PROT
Asterisk 606206 METALLOTHIONEIN 4; MT4 METALLOTHIONEIN IV; MTIV
Asterisk 606207 SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER), MEMBER 1; SLC28A1 CONCENTRATIVE NUCLEOSIDE TRANSPORTER 1; CNT1
Asterisk 606208 SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER), MEMBER 2; SLC28A2 CONCENTRATIVE NUCLEOSIDE TRANSPORTER 2; CNT2;; SODIUM-DEPENDENT PURINE NUCLEOSIDE TRANSPORTER 1; SPNT1
Asterisk 606209 YKT6, S. CEREVISIAE, HOMOLOG OF; YKT6
Asterisk 606210 SELENOPROTEIN N; SELENON SELN;; SEPN1
Asterisk 606211 SIRTUIN 6; SIRT6 SIR2-LIKE 6; SIR2L6
Asterisk 606212 SIRTUIN 7; SIRT7 SIR2, S.CEREVISIAE, HOMOLOG-LIKE 7; SIR2L7
Asterisk 606213 SIGNAL SEQUENCE RECEPTOR, GAMMA; SSR3 TRANSLOCON-ASSOCIATED PROTEIN, GAMMA SUBUNIT; TRAPG
Asterisk 606214 SPECTRIN, BETA, NONERYTHROCYTIC, 4; SPTBN4 SPECTRIN, BETA-IV; SPNB4;; QUIVERING, MOUSE, HOMOLOG OF; QV
Percent 606215 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD ATRIOVENTRICULAR CANAL DEFECT; AVCD;; AVC DEFECT;; ENDOCARDIAL CUSHION DEFECT; ECD ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1, INCLUDED; AVSD1, INCLUDED
Asterisk 606216 METHIONINE SULFOXIDE REDUCTASE B1; MSRB1 SELENOPROTEIN X, 1; SEPX1;; SELX;; SELENOPROTEIN R; SELR
Number Sign 606217 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2 ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, INCLUDED
Asterisk 606218 SELENOPHOSPHATE SYNTHETASE 2; SEPHS2 SPS2
Asterisk 606219 TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PROTEIN 1; TRAP1 TNFR-ASSOCIATED PROTEIN 1 HEAT-SHOCK PROTEIN, 75-KD; HSP75;; HSP90-LIKE PROTEIN; HSP90L
NULL 606220 MENTAL RETARDATION, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS
Asterisk 606221 IKAROS FAMILY ZINC FINGER 3; IKZF3 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 3; ZNFN1A3;; AIOLOS; AIO
Asterisk 606222 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 6; IGSF6 DOWNREGULATED BY ACTIVATION GENE; DORA
Asterisk 606223 PROTEASOME 26S SUBUNIT, NON-ATPASE, 2; PSMD2 PROTEASOME 26S, SUBUNIT 2; S2;; TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PROTEIN 2; TRAP2;; TNFR-ASSOCIATED PROTEIN 2
Asterisk 606224 5-PRIME-NUCLEOTIDASE, CYTOSOLIC IIIA; NT5C3A NUCLEOTIDASE, 5-PRIME, CYTOSOLIC III; NT5C3;; URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE 1; UMPH1;; PYRIMIDINE 5-PRIME-NUCLEOTIDASE 1; P5N1
Asterisk 606225 TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1 T1R1
Asterisk 606226 TASTE RECEPTOR TYPE 1, MEMBER 2; TAS1R2 T1R2
Asterisk 606227 MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN; MFRP
Asterisk 606228 ARGONAUTE 1, RISC CATALYTIC COMPONENT; AGO1 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 1; EIF2C1;; EIF2C;; GERP95
Asterisk 606229 ARGONAUTE 2, RISC CATALYTIC COMPONENT; AGO2 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2
Asterisk 606230 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3; SHANK3 PROLINE-RICH SYNAPSE-ASSOCIATED PROTEIN 2; PSAP2;; PROSAP2;; KIAA1650
Asterisk 606231 ADAPTOR PROTEIN, PHOSPHOTYROSINE INTERACTION, PH DOMAIN, AND LEUCINE ZIPPER-CONTAINING PROTEIN 2; APPL2 ADAPTOR PROTEIN CONTAINING PH DOMAIN, PTB DOMAIN, AND LEUCINE ZIPPER MOTIF 2;; DIP13-BETA;; FLJ10659
Number Sign 606232 PHELAN-MCDERMID SYNDROME; PHMDS CHROMOSOME 22q13.3 DELETION SYNDROME;; TELOMERIC 22q13 MONOSOMY SYNDROME
Asterisk 606233 PROKINETICIN 1; PROK1 PK1; PRK1;; ENDOCRINE GLAND-DERIVED VASCULAR ENDOTHELIAL GROWTH FACTOR; EG-VEGF
Asterisk 606234 IKAROS FAMILY ZINC FINGER 2; IKZF2 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 2; ZNF1A2;; HELIOS
Asterisk 606235 THIOREDOXIN REDUCTASE 3; TXNRD3 TRXR3;; TR2
Asterisk 606236 ALVEOLAR SOFT PART SARCOMA CHROMOSOME REGION, CANDIDATE 1; ASPSCR1 ASPL;; TETHER, CONTAINING UBX DOMAIN FOR GLUT4; TUG ASPSCR1/TFE3 FUSION GENE, INCLUDED
Asterisk 606237 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR-ASSOCIATED PROTEIN 1; TGFBRAP1 TGFBR-ASSOCIATED PROTEIN 1; TRAP1
Asterisk 606238 IKAROS FAMILY ZINC FINGER 5; IKZF5 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 5; ZNFN1A5;; PEGASUS
Asterisk 606239 IKAROS FAMILY ZINC FINGER 4; IKZF4 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 4; ZNFN1A4;; EOS;; KIAA1782
Percent 606240 THYROID CANCER, NONMEDULLARY, 3; NMTC3 THYROID CANCER, NONMEDULLARY, 1, FORMERLY; NMTC1, FORMERLY
Asterisk 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1 DCR1;; HELICASE WITH RNASE MOTIF; HERNA;; HELICASE-MOI;; K12H4.8-LIKE;; KIAA0928
Percent 606242 MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES, AND FACIAL DYSMORPHISM KONDOH SYNDROME
Number Sign 606243 ALVEOLAR SOFT PART SARCOMA; ASPS
Asterisk 606244 SIGNAL-TRANSDUCING ADAPTOR MOLECULE 2; STAM2
Asterisk 606245 SUPPRESSOR OF ZESTE 12, DROSOPHILA, HOMOLOG OF; SUZ12 JOINED TO JAZF1; JJAZ1;; KIAA0160 JJAZ1/JAZF1 FUSION GENE, INCLUDED
Asterisk 606246 JUXTAPOSED WITH ANOTHER ZINC FINGER GENE 1; JAZF1 TAK1-INTERACTING PROTEIN 27; TIP27 JAZF1/JJAZ1 FUSION GENE, INCLUDED
Asterisk 606247 STAM-BINDING PROTEIN; STAMBP ASSOCIATED MOLECULE WITH THE SH3 DOMAIN OF STAM; AMSH
Asterisk 606248 QUINOLINATE PHOSPHORIBOSYLTRANSFERASE; QPRT QPRTase
Asterisk 606249 PROTEIN KINASE, LYSINE-DEFICIENT 2; WNK2 PRKWNK2;; KIAA1760
Asterisk 606250 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 8; GALNT8 GalNAc TRANSFERASE 8; GalNAcT8
Asterisk 606251 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 9; GALNT9 GalNAc TRANSFERASE 9; GalNAcT9
Asterisk 606252 TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP MYD88 ADAPTOR-LIKE; MAL
Caret 606253 MOVED TO 191343
Asterisk 606254 SELENOPROTEIN F; SELENOF SELENOPROTEIN, 15-KD; SEP15
Percent 606255 STATURE AS A QUANTITATIVE TRAIT STATURE QUANTITATIVE TRAIT LOCUS 1, INCLUDED; STQTL1, INCLUDED
Percent 606256 STATURE QUANTITATIVE TRAIT LOCUS 2; STQTL2
Percent 606257 STATURE QUANTITATIVE TRAIT LOCUS 3; STQTL3
Percent 606258 STATURE QUANTITATIVE TRAIT LOCUS 4; STQTL4
Asterisk 606259 BREAST CANCER METASTASIS SUPPRESSOR 1; BRMS1
Asterisk 606260 MYOTUBULARIN-RELATED PROTEIN 9; MTMR9 MYOTUBULARIN-RELATED PROTEIN 8, FORMERLY; MTMR8, FORMERLY
Asterisk 606261 NUDIX HYDROLASE 6; NUDT6 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 6;; NUDIX MOTIF 6;; FIBROBLAST GROWTH FACTOR 2, ANTISENSE; FGF2AS;; ASFGF2;; FIBROBLAST GROWTH FACTOR, BASIC, ANTISENSE;; GFG1;; GFG
Caret 606262 MOVED TO 602080
Percent 606263 PAGET DISEASE OF BONE 4; PDB4
Asterisk 606264 C-TYPE LECTIN DOMAIN FAMILY 7, MEMBER A; CLEC7A LECTIN, C-TYPE, SUPERFAMILY MEMBER 12; CLECSF12;; DECTIN 1;; DECTIN1;; BETA-GLUCAN RECEPTOR; BGR
Asterisk 606265 E1A-BINDING PROTEIN, 400-KD; EP400 p400;; CAGH32;; KIAA1498;; KIAA1818;; DOMINO, DROSOPHILA, HOMOLOG OF;; TRINUCLEOTIDE REPEAT-CONTAINING GENE 12, FORMERLY; TNRC12, FORMERLY
Asterisk 606266 BCL2-MODIFYING FACTOR; BMF
Asterisk 606267 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 16; WNT16
Asterisk 606268 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A
Asterisk 606269 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13C; TNFRSF13C B CELL-ACTIVATING FACTOR RECEPTOR;; BAFF RECEPTOR; BAFFR
Asterisk 606270 TOLL-LIKE RECEPTOR 10; TLR10 TLR11, INCLUDED
Asterisk 606271 DISRUPTED IN SCHIZOPHRENIA 2; DISC2
Asterisk 606272 CYSTINOSIN; CTNS
Asterisk 606273 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3; EIF2B3 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, GAMMA;; EIF2B-GAMMA
Asterisk 606274 CASEIN KINASE I, GAMMA-1; CSNK1G1
Caret 606275 MOVED TO 601172
Asterisk 606276 CARTILAGE ACIDIC PROTEIN 1; CRTAC1 CHONDROCYTE-EXPRESSED PROTEIN, 68-KD; CEP68;; LATERAL OLFACTORY TRACT USHER SUBSTANCE; LOTUS
Asterisk 606277 TOLL-INTERACTING PROTEIN; TOLLIP
Asterisk 606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7 FBW7;; FBXW6; FBW6;; FBXO30; FBX30;; ARCHIPELAGO, DROSOPHILA, HOMOLOG OF; AGO;; CDC4, S. CEREVISIAE, HOMOLOG OF;; SEL10, C. ELEGANS, HOMOLOG OF; SEL10
Asterisk 606279 ABI FAMILY MEMBER 3 BINDING PROTEIN; ABI3BP TARGET OF NESH-SH3; TARSH
Asterisk 606280 NON-SMC CONDENSIN I COMPLEX SUBUNIT G; NCAPG CONDENSIN I COMPLEX, NON-SMC SUBUNIT G;; CHROMOSOME-ASSOCIATED PROTEIN G; CAPG
Asterisk 606281 RAS-ASSOCIATED PROTEIN RAB38; RAB38
Percent 606282 DEAFNESS, AUTOSOMAL DOMINANT 24; DFNA24
Asterisk 606283 SORCS RECEPTOR 1; SORCS1
Asterisk 606284 SORCS RECEPTOR 2; SORCS2 KIAA1329
Asterisk 606285 SORCS RECEPTOR 3; SORCS3 KIAA1059
Asterisk 606286 DEAD/H BOX 43; DDX43 HELICASE ANTIGEN; HAGE
Caret 606287 MOVED TO 605743
Asterisk 606288 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 1; PCDHGA1 PCDH-GAMMA-A1
Asterisk 606289 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 2; PCDHGA2 PCDH-GAMMA-A2
Asterisk 606290 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 3; PCDHGA3 PCDH-GAMMA-A3
Asterisk 606291 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 4; PCDHGA4 PCDH-GAMMA-A4
Asterisk 606292 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 5; PCDHGA5 PCDH-GAMMA-A5
Asterisk 606293 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 6; PCDHGA6 PCDH-GAMMA-A6
Asterisk 606294 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 7; PCDHGA7 PCDH-GAMMA-A7
Asterisk 606295 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 8; PCDHGA8 PCDH-GAMMA-A8;; KIAA0327
Asterisk 606296 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 9; PCDHGA9 PCDH-GAMMA-A9
Asterisk 606297 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 10; PCDHGA10 PCDH-GAMMA-A10
Asterisk 606298 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 11; PCDHGA11 PCDH-GAMMA-A11
Asterisk 606299 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 1; PCDHGB1 PCDH-GAMMA-B1
Asterisk 606300 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 2; PCDHGB2 PCDH-GAMMA-B2
Asterisk 606301 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 3; PCDHGB3 PCDH-GAMMA-B3
Asterisk 606302 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 5; PCDHGB5 PCDH-GAMMA-B5
Asterisk 606303 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 6; PCDHGB6 PCDH-GAMMA-B6
Asterisk 606304 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 7; PCDHGB7 PCDH-GAMMA-B7
Asterisk 606305 PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 4; PCDHGC4 PCDH-GAMMA-C4
Asterisk 606306 PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 5; PCDHGC5 PCDH-GAMMA-C5
Asterisk 606307 PROTOCADHERIN-ALPHA 1; PCDHA1 PCDH-ALPHA-1
Asterisk 606308 PROTOCADHERIN-ALPHA 2; PCDHA2 PCDH-ALPHA-2
Asterisk 606309 PROTOCADHERIN-ALPHA 3; PCDHA3 PCDH-ALPHA-3
Asterisk 606310 PROTOCADHERIN-ALPHA 4; PCDHA4 PCDH-ALPHA-4;; CADHERIN-RELATED NEURONAL RECEPTOR 1, MOUSE, HOMOLOG OF; CNR1
Asterisk 606311 PROTOCADHERIN-ALPHA 5; PCDHA5 PCDH-ALPHA-5;; CADHERIN-RELATED NEURONAL RECEPTOR 6, MOUSE, HOMOLOG OF; CNR6
Asterisk 606312 PROTOCADHERIN-ALPHA 6; PCDHA6 PCDH-ALPHA-6;; CADHERIN-RELATED NEURONAL RECEPTOR 2, MOUSE, HOMOLOG OF; CNR2
Asterisk 606313 PROTOCADHERIN-ALPHA 7; PCDHA7 PCDH-ALPHA-7;; CADHERIN-RELATED NEURONAL RECEPTOR 4, MOUSE, HOMOLOG OF; CNR4
Asterisk 606314 PROTOCADHERIN-ALPHA 8; PCDHA8 PCDH-ALPHA-8
Asterisk 606315 PROTOCADHERIN-ALPHA 9; PCDHA9 PCDH-ALPHA-9;; KIAA0345
Asterisk 606316 PROTOCADHERIN-ALPHA 10; PCDHA10 PCDH-ALPHA-10;; CADHERIN-RELATED NEURONAL RECEPTOR 8, MOUSE, HOMOLOG OF; CNR8
Asterisk 606317 PROTOCADHERIN-ALPHA 11; PCDHA11 PCDH-ALPHA-11;; CADHERIN-RELATED NEURONAL RECEPTOR 7, MOUSE, HOMOLOG OF; CNR7
Asterisk 606318 PROTOCADHERIN-ALPHA 12; PCDHA12 PCDH-ALPHA-12
Asterisk 606319 PROTOCADHERIN-ALPHA 13; PCDHA13 PCDH-ALPHA-13;; CADHERIN-RELATED NEURONAL RECEPTOR 5, MOUSE, HOMOLOG OF; CNR5
Asterisk 606320 PROTOCADHERIN-ALPHA, SUBFAMILY C, MEMBER 1; PCDHAC1 PCDH-ALPHA-C1
Asterisk 606321 PROTOCADHERIN-ALPHA, SUBFAMILY C, MEMBER 2; PCDHAC2 PCDH-ALPHA-C2
Asterisk 606322 CYTOPLASMIC FMRP-INTERACTING PROTEIN 1; CYFIP1 SPECIFICALLY RAC1-ASSOCIATED PROTEIN 1; SRA1;; KIAA0068
Asterisk 606323 CYTOPLASMIC FMRP-INTERACTING PROTEIN 2; CYFIP2 p53-INDUCIBLE PROTEIN; PIR121
Number Sign 606324 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7
Percent 606325 HETEROTAXY, VISCERAL, 3, AUTOSOMAL; HTX3
Asterisk 606326 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 6; SIX6
Asterisk 606327 PROTOCADHERIN-BETA 1; PCDHB1 PCDH-BETA-1
Asterisk 606328 PROTOCADHERIN-BETA 2; PCDHB2 PCDH-BETA-2
Asterisk 606329 PROTOCADHERIN-BETA 3; PCDHB3 PCDH-BETA-3
Asterisk 606330 PROTOCADHERIN-BETA 4; PCDHB4 PCDH-BETA-4
Asterisk 606331 PROTOCADHERIN-BETA 5; PCDHB5 PCDH-BETA-5
Asterisk 606332 PROTOCADHERIN-BETA 6; PCDHB6 PCDH-BETA-6
Asterisk 606333 PROTOCADHERIN-BETA 7; PCDHB7 PCDH-BETA-7
Asterisk 606334 PROTOCADHERIN-BETA 8; PCDHB8 PCDH-BETA-8
Asterisk 606335 PROTOCADHERIN-BETA 9; PCDHB9 PCDH-BETA-9
Asterisk 606336 PROTOCADHERIN-BETA 10; PCDHB10 PCDH-BETA-10
Asterisk 606337 PROTOCADHERIN-BETA 11; PCDHB11 PCDH-BETA-11
Asterisk 606338 PROTOCADHERIN-BETA 12; PCDHB12 PCDH-BETA-12
Asterisk 606339 PROTOCADHERIN-BETA 13; PCDHB13 PCDH-BETA-13
Asterisk 606340 PROTOCADHERIN-BETA 14; PCDHB14 PCDH-BETA-14
Asterisk 606341 PROTOCADHERIN-BETA 15; PCDHB15 PCDH-BETA-15
Asterisk 606342 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 4; SIX4
Asterisk 606343 POLYMERASE, DNA, LAMBDA; POLL
Asterisk 606344 POLYMERASE, DNA, MU; POLM
Asterisk 606345 PROTOCADHERIN-BETA 16; PCDHB16 PCDH-BETA-16;; PCDHB8A;; KIAA1621
Number Sign 606346 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, INCLUDED
Asterisk 606347 PROLINE/SERINE/THREONINE PHOSPHATASE-INTERACTING PROTEIN 1; PSTPIP1 PSTPIP;; CD2 ANTIGEN-BINDING PROTEIN 1; CD2BP1
Percent 606348 INFLAMMATORY BOWEL DISEASE 5; IBD5
NULL 606349 GAMBLING, PATHOLOGIC
Asterisk 606350 APRATAXIN; APTX FLJ20157
Asterisk 606351 ESPIN, MOUSE, HOMOLOG OF; ESPN
Asterisk 606352 ALSIN ALS2 GENE;; KIAA1563
Number Sign 606353 PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ PLS, JUVENILE
Caret 606354 MOVED TO 605317
Asterisk 606355 DEAD BOX POLYPEPTIDE 18; DDX18
Asterisk 606356 TRANSMEMBRANE PROTEIN 123; TMEM123 PRO-ONCOSIS RECEPTOR INDUCING MEMBRANE INJURY; PORIMIN;; KERATINOCYTE-ASSOCIATED TRANSMEMBRANE PROTEIN 3; KCT3
Asterisk 606357 DEAD/H BOX 21; DDX21
Asterisk 606358 ANTERIOR GRADIENT 2, XENOPUS, HOMOLOG OF; AGR2 AG2
Asterisk 606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A
Asterisk 606360 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 8A; WNT8A
Asterisk 606361 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5B; WNT5B
Asterisk 606362 ACID PHOSPHATASE, TESTICULAR; ACPT TESTICULAR ACID PHOSPHATASE
Asterisk 606363 ABI FAMILY MEMBER 3; ABI3 NESH PROTEIN; NESH
Caret 606364 MOVED TO 606658
Asterisk 606365 GLUTAMINASE, LIVER; GLS2 GA
Asterisk 606366 RAS HOMOLOG GENE FAMILY, MEMBER U; RHOU WNT1-RESPONSIVE CDC42 HOMOLOG; WRCH1
Number Sign 606367 IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF;; IL2RA DEFICIENCY;; CD25 DEFICIENCY
Asterisk 606368 APOLIPOPROTEIN A-V; APOA5 APOAV
NULL 606369 MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
Asterisk 606370 THIAMINE PYROPHOSPHOKINASE; TPK1 THIAMINE KINASE
Asterisk 606371 ACTIVATING TRANSCRIPTION FACTOR 7; ATF7 ATFA
Asterisk 606372 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 10; CHRNA10 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-10 SUBUNIT
Asterisk 606373 FORMIN 2; FMN2
Asterisk 606374 BETA-1,3-GLUCURONYLTRANSFERASE 3; B3GAT3 GLUCURONOSYLTRANSFERASE I; GLCATI
Caret 606375 MOVED TO 151290
Asterisk 606376 CARBOHYDRATE SULFOTRANSFERASE 10; CHST10 HNK1 SULFOTRANSFERASE; HNK1ST
Asterisk 606377 DIMERIC DIHYDRODIOL DEHYDROGENASE; DHDH HUM2DD
Asterisk 606378 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 4; ST6GALNAC4 SIALYLTRANSFERASE 3C; SIAT3C;; NeuAc-ALPHA-2,3-Gal-BETA-1,3-GalNAc-ALPHA-2,6-SIALYLTRANSFERASE IV;; ST6GalNAc IV
Asterisk 606379 G PROTEIN-COUPLED RECEPTOR 87; GPR87 GPR95
Asterisk 606380 G PROTEIN-COUPLED RECEPTOR 86; GPR86 GPR94
Asterisk 606381 SUCCINATE RECEPTOR 1; SUCNR1 G PROTEIN-COUPLED RECEPTOR 91; GPR91
Asterisk 606382 MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING, 2; MAGI2 ATROPHIN 1-INTERACTING PROTEIN 1; AIP1;; SYNAPTIC SCAFFOLDING MOLECULE; SSCAM;; KIAA0705
Asterisk 606383 G PROTEIN-COUPLED RECEPTOR 84; GPR84
Asterisk 606384 UBIQUITIN PROTEIN LIGASE NEDD4-LIKE; NEDD4L NEDD4-2;; KIAA0439;; RSP5, S. CEREVISIAE, HOMOLOG OF
Asterisk 606385 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 1; OLIG1
Asterisk 606386 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 2; OLIG2 PROTEIN KINASE C BINDING PROTEIN 2; PRKCBP2;; BASIC HELIX-LOOP-HELIX PROTEIN, CLASS B, 1; BHLHB1
Asterisk 606387 TOPOISOMERASE I, MITOCHONDRIAL; TOP1MT
Asterisk 606388 THIOESTERASE SUPERFAMILY MEMBER 4; THEM4 C-TERMINAL MODULATOR PROTEIN; CTMP
Asterisk 606389 CATION CHANNEL, SPERM-ASSOCIATED, 1; CATSPER1 CATSPER
Caret 606390 MOVED TO 142560
Number Sign 606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY MASON-TYPE DIABETES
Number Sign 606392 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; MODY4 MODY, TYPE 4
Asterisk 606393 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN-LIKE PROTEIN DECYSIN 1; ADAMDEC1 ADAM-LIKE PROTEIN DECYSIN 1;; DECYSIN
Number Sign 606394 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6 MODY, TYPE 6
Asterisk 606395 PROLACTIN REGULATORY ELEMENT-BINDING PROTEIN; PREB
Asterisk 606396 BRIDGING INTEGRATOR 3; BIN3
Asterisk 606397 CLARIN 1; CLRN1 USH3A GENE; USH3A;; USH3
Asterisk 606398 ACTIVATING TRANSCRIPTION FACTOR 5; ATF5 ATFX
Asterisk 606399 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 3; CACNA2D3
Asterisk 606400 CALPAIN 7; CAPN7 PALB, ASPERGILLUS NIDULANS, HOMOLOG OF; PALBH
Asterisk 606401 CALPAIN 9; CAPN9 NCL4
Asterisk 606402 GASTROKINE 1; GKN1 CA11 GENE;; BRICHOS DOMAIN-CONTAINING 1; BRICD1;; ANTRUM MUCOSA PROTEIN, 18-KD; AMP18;; FOVEOLIN; FOV
Asterisk 606403 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-3 SUBUNIT; CACNG3
Asterisk 606404 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-4 SUBUNIT; CACNG4
Asterisk 606405 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-5 SUBUNIT; CACNG5
Asterisk 606406 NUCLEAR PORE COMPLEX-INTERACTING PROTEIN; NPIP
Number Sign 606407 HYPOTONIA-CYSTINURIA SYNDROME CYSTINURIA WITH MITOCHONDRIAL DISEASE;; HOMOZYGOUS 2p16 DELETION SYNDROME, FORMERLY HOMOZYGOUS 2p21 DELETION SYNDROME, INCLUDED
Number Sign 606408 EHLERS-DANLOS SYNDROME, CLASSIC-LIKE; EDSCLL EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY;; EDS DUE TO TNX DEFICIENCY;; TNX DEFICIENCY
Asterisk 606409 ITCHY E3 UBIQUITIN PROTEIN LIGASE, MOUSE, HOMOLOG OF; ITCH ATROPHIN 1-INTERACTING PROTEIN 4; AIP4;; NFE2-ASSOCIATED POLYPEPTIDE 1; NAPP1
Asterisk 606410 ANTHRAX TOXIN RECEPTOR 1; ANTXR1 TUMOR ENDOTHELIAL MARKER 8; TEM8;; ANTHRAX TOXIN RECEPTOR; ATR
Asterisk 606411 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER), MEMBER 3; SLC13A3 SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER 3; NADC3
Asterisk 606412 BSND GENE; BSND BARTTIN
Asterisk 606413 INSULIN-LIKE 5; INSL5
Asterisk 606414 INSULIN-LIKE 6; INSL6 RELAXIN/INSULIN-LIKE FACTOR 1; RIF1
Caret 606415 MOVED TO 114580
Asterisk 606416 NLR FAMILY, PYRIN DOMAIN-CONTAINING 3; NLRP3 CIAS1 GENE; CIAS1;; CRYOPYRIN;; NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 3; NALP3;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 1; PYPAF1;; AII/AVP RECEPTOR-LIKE
Asterisk 606417 WD REPEAT-CONTAINING PROTEIN 11; WDR11 WDR15;; KIAA1351;; BROMODOMAIN- AND WD REPEAT-CONTAINING PROTEIN 2, FORMERLY; BRWD2, FORMERLY
Asterisk 606418 24-DEHYDROCHOLESTEROL REDUCTASE; DHCR24 KIAA0018;; SELECTIVE AD INDICATOR 1; SELADIN1;; DESMOSTEROL DELTA-24-REDUCTASE
Asterisk 606419 PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF; PRPF31 PRP31
Asterisk 606420 ENGULFMENT AND CELL MOTILITY GENE 1; ELMO1 CED12, C. ELEGANS, HOMOLOG OF, 1
Asterisk 606421 ENGULFMENT AND CELL MOTILITY GENE 2; ELMO2 CED12, C. ELEGANS, HOMOLOG OF, 2
Asterisk 606422 ENGULFMENT AND CELL MOTILITY GENE 3; ELMO3 CED12, C. ELEGANS, HOMOLOG OF, 3
Asterisk 606423 DISRUPTED IN RENAL CARCINOMA 1; DIRC1
Asterisk 606424 EGL9, C. ELEGANS, HOMOLOG OF, 2; EGLN2 PROLYL HYDROXYLASE DOMAIN-CONTAINING PROTEIN 1; PHD1;; HYPOXIA-INDUCIBLE FACTOR PROLYL 4-HYDROXYLASE 1; HIFPH1; HIFP4H1;; HIF PROLYL 4-HYDROXYLASE 1
Asterisk 606425 EGL9, C. ELEGANS, HOMOLOG OF, 1; EGLN1 PROLYL HYDROXYLASE DOMAIN-CONTAINING PROTEIN 2; PHD2;; HYPOXIA-INDUCIBLE FACTOR PROLYL 4-HYDROXYLASE 2; HPH2; HIFPH2; HIFP4H2;; HIF PROLYL 4-HYDROXYLASE 2;; CHROMOSOME 1 OPEN READING FRAME 12; C1ORF12;; SM20, RAT, HOMOLOG OF; SM20;; ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 6; ZMYND6
Asterisk 606426 EGL9, C. ELEGANS, HOMOLOG OF, 3; EGLN3 PROLYL HYDROXYLASE DOMAIN-CONTAINING PROTEIN 3; PHD3;; HYPOXIA-INDUCIBLE FACTOR PROLYL 4-HYDROXYLASE 3; HIFPH3; HIFP4H3;; HIF PROLYL 4-HYDROXYLASE 3
Asterisk 606427 ZINC FINGER PROTEIN 320; ZNF320
Asterisk 606428 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A3; UGT1A3 UGT1C
Asterisk 606429 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A4; UGT1A4 UGT1D
Asterisk 606430 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A5; UGT1A5 UGT1E
Asterisk 606431 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A6; UGT1A6 UGT1F;; GNT1
Asterisk 606432 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A7; UGT1A7 UGT1G
Asterisk 606433 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A8; UGT1A8 UGT1H
Asterisk 606434 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A9; UGT1A9
Asterisk 606435 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A10; UGT1A10 UGT1J
Asterisk 606436 SYNAPTOTAGMIN 12; SYT12 SYNAPTOTAGMIN-RELATED GENE 1, RAT, HOMOLOG OF; SRG1
Caret 606437 MOVED TO 121200
Number Sign 606438 HUNTINGTON DISEASE-LIKE 2; HDL2
Asterisk 606439 ATLASTIN GTPase 1; ATL1 ATLASTIN;; SPG3A GENE; SPG3A
Asterisk 606440 STEREOCILIN; STRC
Asterisk 606441 HTRA SERINE PEPTIDASE 2; HTRA2 HTRA, E. COLI, HOMOLOG OF, 2;; PROTEASE, SERINE, 25; PRSS25;; OMI
Asterisk 606442 ABL INTERACTOR 2; ABI2 ABL-INTERACTING PROTEIN 1; AIP1
Asterisk 606443 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3; CREB3 LUMAN;; BASIC LEUCINE ZIPPER PROTEIN; LZIP
Asterisk 606444 ZHANGFEI PROTEIN ZF
NULL 606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS; PPBL
Asterisk 606446 SLAM FAMILY, MEMBER 6; SLAMF6 NATURAL KILLER-, T-, AND B-CELL ANTIGEN;; NK-, T-, AND B-CELL ANTIGEN; NTBA;; LY108
Asterisk 606447 RNA-BINDING PROTEIN S1; RNPS1
Asterisk 606448 THIOREDOXIN REDUCTASE 2; TXNRD2 TRXR2;; THIOREDOXIN REDUCTASE, MITOCHONDRIAL;; TR-BETA;; TR3;; SELENOPROTEIN Z; SELZ
Asterisk 606449 PROTEIN-TYROSINE PHOSPHATASE, TYPE 4A, 3; PTP4A3 PRL3
Asterisk 606450 NEUROEPITHELIAL CELL TRANSFORMING GENE 1; NET1
Percent 606451 DEAFNESS, AUTOSOMAL DOMINANT 30; DFNA30
Asterisk 606452 WILDTYPE p53-INDUCED GENE WIG1
Asterisk 606453 LIPOPOLYSACCHARIDE-RESPONSIVE, BEIGE-LIKE ANCHOR PROTEIN; LRBA LBA;; CELL DIVISION CYCLE 4-LIKE PROTEIN; CDC4L;; CDC4-LIKE PROTEIN
Asterisk 606454 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, BETA;; EIF2B-BETA
Asterisk 606455 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 13B; PPP1R13B APOPTOSIS-STIMULATING PROTEIN OF p53, 1; ASPP1;; KIAA0771
Asterisk 606456 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 3; NPM3
Asterisk 606457 INHIBITOR OF BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; IBTK
Asterisk 606458 AXIN1 UPREGULATED; AXUD1
Asterisk 606459 OPIOID GROWTH FACTOR RECEPTOR; OGFR
Percent 606460 LONGEVITY 2 LGV2
Asterisk 606461 TRIMETHYLGUANOSINE SYNTHASE, S. CEREVISIAE, HOMOLOG OF; TGS1 PRIP-INTERACTING PROTEIN WITH METHYLTRANSFERASE DOMAIN; PIMT;; NUCLEAR RECEPTOR COACTIVATOR 6; NCOA6IP
Asterisk 606462 RAD21, S. POMBE, HOMOLOG OF; RAD21 HR21;; SCC1;; NUCLEAR MATRIX PROTEIN 1; NXP1;; KIAA0078
Asterisk 606463 GLUCOSIDASE, BETA, ACID; GBA ACID BETA-GLUCOSIDASE;; BETA-GLUCOSIDASE, ACID;; BETA-GC;; GLUCOCEREBROSIDASE;; GLUCOSYLCERAMIDASE GLUCOCEREBROSIDASE PSEUDOGENE, INCLUDED; GBAP, INCLUDED
Asterisk 606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP LIVER-EXPRESSED ANTIMICROBIAL PEPTIDE; LEAP1;; HEPCIDIN; HEPC
Asterisk 606465 KRUPPEL-LIKE FACTOR 15; KLF15 KIDNEY-ENRICHED KRUPPEL-LIKE FACTOR; KKLF
Asterisk 606466 PML-RARA TARGET GENE ENCODING AN ADAPTOR MOLECULE 1; PRAM1
Asterisk 606467 ALDEHYDE DEHYDROGENASE 8 FAMILY, MEMBER A1; ALDH8A1 ALDH12
Asterisk 606468 NUCLEOLAR PROTEIN FAMILY A, MEMBER 1; NOLA1 GAR1, S. CEREVISIAE, HOMOLOG OF; GAR1
Asterisk 606469 RING FINGER PROTEIN 29; RNF29 MUSCLE-SPECIFIC RING FINGER PROTEIN 2; MURF2
Asterisk 606470 NUCLEOLAR PROTEIN FAMILY A, MEMBER 2; NOLA2 NHP2, S. CEREVISIAE, HOMOLOG OF; NHP2
Asterisk 606471 NUCLEOLAR PROTEIN FAMILY A, MEMBER 3; NOLA3 NOP10, S. CEREVISIAE, HOMOLOG OF; NOP10
Asterisk 606472 SS18-LIKE GENE 1; SS18L1 KIAA0693;; CALCIUM-RESPONSIVE TRANSACTIVATOR; CREST
Asterisk 606473 SS18-LIKE GENE 2; SS18L2
Asterisk 606474 RING FINGER PROTEIN 30; RNF30 MUSCLE-SPECIFIC RING FINGER PROTEIN 3; MURF3
Asterisk 606475 CD320 ANTIGEN; CD320 8D6 ANTIGEN; 8D6; 8D6A;; TRANSCOBALAMIN RECEPTOR; TCBLR
Asterisk 606476 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE C; ITPKC
Asterisk 606477 SERINE RACEMASE; SRR
Asterisk 606478 PROTECTION OF TELOMERES 1; POT1
Asterisk 606479 NEUROLIGIN 2; NLGN2 NL2;; KIAA1366
Asterisk 606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24 STE24, S. CEREVISIAE, HOMOLOG OF;; FACE1
Asterisk 606481 PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE, A; PIB5PA PROLINE-RICH INOSITOL POLYPHOSPHATE 5-PHOSPHATASE; PIPP;; INOSITOL POLYPHOSPHATE 5-PHOSPHATASE
Number Sign 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B;; DI-CMTB;; CMTDI1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, INCLUDED; CMT2M, INCLUDED;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M, INCLUDED;; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M, INCLUDED;; CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA, INCLUDED;; CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA, INCLUDED
Percent 606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A; CMTDIA CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE A;; DI-CMTA
Asterisk 606484 MYOTROPHIN; MTPN V-1
Asterisk 606485 POLYMERASE II, RNA, SUBUNIT M; POLR2M GRINL1A COMPLEX LOCUS DOWNSTREAM GENE; GDOWN;; GCOM1 DOWNSTREAM GENE;; GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL D-ASPARTATE-LIKE 1A; GRINL1A GRINL1A COMPLEX LOCUS DOWNSTREAM TRANSCRIPT 1, INCLUDED; GDOWN1, INCLUDED
Asterisk 606486 CHMP FAMILY, MEMBER 1B; CHMP1B CHROMATIN-MODIFYING PROTEIN 1B;; CHARGED MULTIVESICULAR BODY PROTEIN 1B;; CHROMOSOME 18 OPEN READING FRAME 2; C18ORF2
Asterisk 606487 HRAS-LIKE SUPPRESSOR; HRASLS
Asterisk 606488 EXOSOME COMPONENT 7; EXOSC7 RIBOSOMAL RNA-PROCESSING PROTEIN 42, S. CEREVISIAE, HOMOLOG OF; RRP42;; KIAA0116
Asterisk 606489 EXOSOME COMPONENT 3; EXOSC3 RIBOSOMAL RNA-PROCESSING PROTEIN 40, S. CEREVISIAE, HOMOLOG OF; RRP40
Asterisk 606490 EXOSOME COMPONENT 6; EXOSC6 mRNA TRANSPORT REGULATOR 3, S. CEREVISIAE, HOMOLOG OF; MTR3
Asterisk 606491 EXOSOME COMPONENT 4; EXOSC4 RIBOSOMAL RNA-PROCESSING PROTEIN 41, S. CEREVISIAE, HOMOLOG OF; RRP41
Asterisk 606492 EXOSOME COMPONENT 5; EXOSC5 RIBOSOMAL RNA-PROCESSING PROTEIN 46, S. CEREVISIAE, HOMOLOG OF; RRP46
Asterisk 606493 EXOSOME COMPONENT 1; EXOSC1 CSL4, S. CEREVISIAE, HOMOLOG OF; CSL4
Asterisk 606494 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 3; ST3GAL3 SIALYLTRANSFERASE 6; SIAT6;; N-ACETYLLACTOSAMINIDE ALPHA-2,3-SIALYLTRANSFERASE;; ALPHA-2,3-SIALYLTRANSFERASE II; ST3GALII;; ST3N
Asterisk 606495 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 4; MARK4 MAP/MICROTUBULE AFFINITY-REGULATING KINASE-LIKE 1; MARKL1;; KIAA1860
Asterisk 606496 INTERLEUKIN 17F; IL17F ML1
Asterisk 606497 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B28; UGT2B28
Asterisk 606498 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 3; MS4A3 HEMATOPOIETIC CELL 4-TRANSMEMBRANE PROTEIN; HTM4;; CD20 ANTIGEN-LIKE; CD20L
Asterisk 606499 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 5; MS4A5 TESTIS-EXPRESSED TRANSMEMBRANE 4; TETM4;; CD20 ANTIGEN-LIKE 2; CD20L2
Asterisk 606500 SECRETOGLOBIN, FAMILY 3A, MEMBER 1; SCGB3A1 UTEROGLOBIN-RELATED PROTEIN 2; UGRP2;; HIN1
Asterisk 606501 MYOTUBULARIN-RELATED PROTEIN 12; MTMR12 PHOSPHATIDYLINOSITOL 3-PHOSPHATE 3-PHOSPHATASE ADAPTOR SUBUNIT; 3PAP;; KIAA1682
Asterisk 606502 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 7; MS4A7 CD20/FCER1B FAMILY MEMBER 4; CFFM4
Asterisk 606503 SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 2; SUV39H2 SU(VAR)3-9, DROSOPHILA, HOMOLOG OF, 2
Asterisk 606504 CANCER SUSCEPTIBILITY CANDIDATE 3; CASC3 MLN51 GENE; MLN51;; BARENTSZ, DROSOPHILA, HOMOLOG OF
Asterisk 606505 PIN2-INTERACTING PROTEIN 1; PINX1 TRF1-INTERACTING PROTEIN 1;; LPTS
Caret 606506 MOVED TO 300927
Caret 606507 MOVED TO 602488
Asterisk 606508 Fc RECEPTOR-LIKE PROTEIN 1; FCRL1 FCRH1
Asterisk 606509 Fc RECEPTOR-LIKE PROTEIN 2; FCRL2 FCRH2;; SH2 DOMAIN-CONTAINING PHOSPHATASE ANCHOR PROTEIN 1; SPAP1 SH2 DOMAIN-CONTAINING PHOSPHATASE ANCHOR PROTEIN 1A, INCLUDED; SPAP1A, INCLUDED;; SH2 DOMAIN-CONTAINING PHOSPHATASE ANCHOR PROTEIN 1B, INCLUDED; SPAP1B, INCLUDED;; SH2 DOMAIN-CONTAINING PHOSPHATASE ANCHOR PROTEIN 1C, INCLUDED; SPAP1C, INCLUDED
Asterisk 606510 Fc RECEPTOR-LIKE PROTEIN 3; FCRL3 FCRH3
Asterisk 606511 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 1; MARK1 MARK;; KIAA1477
Asterisk 606512 PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS 1; PACSIN1 KIAA1379
Asterisk 606513 PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS 3; PACSIN3
Asterisk 606514 CYTOHESIN 4; CYTH4 CYT4;; PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 4; PSCD4;; DJ63G5.1
Asterisk 606515 RNA, 7SK, SMALL NUCLEAR; RN7SK snRNA, 7SK; 7SK
Asterisk 606516 MUSCLEBLIND-LIKE SPLICING REGULATOR 1; MBNL1 MUSCLEBLIND-LIKE PROTEIN 1;; MUSCLEBLIND-LIKE PROTEIN; MBNL;; MUSCLEBLIND, DROSOPHILA, HOMOLOG OF;; KIAA0428;; CUG TRIPLET REPEAT EXPANSION DOUBLE-STRANDED RNA-BINDING PROTEIN; EXP
Asterisk 606517 ARYLHYDROCARBON RECEPTOR REPRESSOR; AHRR KIAA1234
Asterisk 606518 HEPATITIS A VIRUS CELLULAR RECEPTOR 1; HAVCR1 HAVCR;; T-CELL IMMUNOGLOBULIN AND MUCIN DOMAINS-CONTAINING PROTEIN 1; TIM1;; KIDNEY INJURY MOLECULE 1; KIM1
NULL 606519 PHACE ASSOCIATION PHACES ASSOCIATION;; AORTIC ANEURYSM, GIANT CONGENITAL
Asterisk 606520 MEGAKARYOCYTE AND PLATELET INHIBITORY RECEPTOR G6B; MPIG6B G6B PROTEIN; G6B;; CHROMOSOME 6 OPEN READING FRAME 25; C6ORF25
Asterisk 606521 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL THIAMINE PYROPHOSPHATE CARRIER), MEMBER 19; SLC25A19 MITOCHONDRIAL UNCOUPLING PROTEIN 1; MUP1;; MITOCHONDRIAL THIAMINE PYROPHOSPHATE CARRIER; TPC;; MITOCHONDRIAL DEOXYNUCLEOTIDE CARRIER, FORMERLY; DNC, FORMERLY
Asterisk 606522 GROWTH/DIFFERENTIATION FACTOR 3; GDF3
Asterisk 606523 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 1; SRGAP1 SLIT-ROBO GTPase-ACTIVATING PROTEIN, RHO, 1;; SLIT-ROBO GAP1;; KIAA1304;; ARHGAP13
Asterisk 606524 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2; SRGAP2 SRGAP2A;; SLIT-ROBO GTPase-ACTIVATING PROTEIN, RHO, 2;; SLIT-ROBO GAP 2;; KIAA0456;; FORMIN-BINDING PROTEIN 2; FNBP2
Asterisk 606525 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 3; SRGAP3 SLIT-ROBO GAP 3;; MENTAL DISORDER-ASSOCIATED GAP PROTEIN; MEGAP;; WAVE-ASSOCIATED RAC GTPase-ACTIVATING PROTEIN; WRP;; KIAA0411;; ARHGAP14 SRGAP3/RAF1 FUSION GENE, INCLUDED
Asterisk 606526 MELANOPHILIN; MLPH SYNAPTOTAGMIN-LIKE PROTEIN LACKING C2 DOMAINS A; SLAC2A
NULL 606527 MEGARBANE SYNDROME
Number Sign 606528 HOMOZYGOUS 11p15-p14 DELETION SYNDROME HYPERINSULINISM, INFANTILE, WITH ENTEROPATHY AND DEAFNESS
NULL 606529 CRANIOSYNOSTOSIS SYNDROME, AUTOSOMAL RECESSIVE
Asterisk 606530 CYTOCHROME P450, SUBFAMILY XXVIIA, POLYPEPTIDE 1; CYP27A1 CYP27;; STEROL 27-HYDROXYLASE
Asterisk 606531 SECRETOGLOBIN, FAMILY 3A, MEMBER 2; SCGB3A2 UTEROGLOBIN-RELATED PROTEIN 1; UGRP1
Asterisk 606532 HORMONALLY UPREGULATED NEU-ASSOCIATED KINASE; HUNK
Asterisk 606533 CHLORIDE INTRACELLULAR CHANNEL 3; CLIC3
Asterisk 606534 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 43; CYP3A43
Asterisk 606535 MYC-BINDING PROTEIN; MYCBP ASSOCIATE OF MYC; AMY1
Asterisk 606536 CHLORIDE INTRACELLULAR CHANNEL 4; CLIC4 CHLORIDE INTRACELLULAR CHANNEL, MITOCHONDRIAL; MTCLIC
Asterisk 606537 MYOSIN IB; MYO1B
Asterisk 606538 MYOSIN IC; MYO1C MYOSIN 2, RAT, HOMOLOG OF; MYR2;; NUCLEAR MYOSIN I; NMI
Asterisk 606539 MYOSIN ID; MYO1D KIAA0727
Asterisk 606540 MYOSIN VB; MYO5B KIAA1119
Asterisk 606541 MYOSIN VIIB; MYO7B
Asterisk 606542 HISTONE DEACETYLASE 7A; HDAC7A HDAC7;; DKFZP586J0917
Asterisk 606543 HISTONE DEACETYLASE 9; HDAC9 HISTONE DEACETYLASE 7B; HDAC7B;; MEF2-INTERACTING TRANSCRIPTION REPRESSOR PROTEIN; MITR;; KIAA0744 HISTONE DEACETYLASE 9A, INCLUDED; HDAC9A, INCLUDED
Asterisk 606544 MITOCHONDRIAL ELONGATION FACTOR G2; GFM2 ELONGATION FACTOR G2; EFG2;; RIBOSOME-RECYCLING FACTOR 2, MITOCHONDRIAL; MRRF2; RRF2
Number Sign 606545 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3; ARCI3 COLLODION BABY, SELF-HEALING;; ICHTHYOSIS, LAMELLAR, 5, FORMERLY; LI5, FORMERLY
Asterisk 606546 HYDATIDIFORM MOLE-ASSOCIATED AND IMPRINTED TRANSCRIPT; HYMAI
Asterisk 606547 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 4A; MS4A4A MS4A4
Asterisk 606548 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 6A; MS4A6A MS4A6
Asterisk 606549 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 8B; MS4A8B
Asterisk 606550 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 12 MS4A12
Asterisk 606551 LEUCINE ZIPPER, PUTATIVE TUMOR SUPPRESSOR 1; LZTS1 F37;; FEZ1, FORMERLY
Percent 606552 EPISODIC ATAXIA, TYPE 4; EA4 PERIODIC VESTIBULOCEREBELLAR ATAXIA; PATX;; ATAXIA, PERIODIC VESTIBULOCEREBELLAR
Asterisk 606553 SOLUTE CARRIER FAMILY 9, MEMBER 3, REGULATOR 2; SLC9A3R2 SRY-INTERACTING PROTEIN 1; SIP1;; SODIUM/HYDROGEN EXCHANGER 3 KINASE A REGULATORY PROTEIN; E3KARP;; NHE3 KINASE A REGULATORY PROTEIN;; SODIUM/HYDROGEN EXCHANGER REGULATORY FACTOR 2; NHERF2;; NHE3 REGULATORY FACTOR 2; NHE3RF2
Percent 606554 EPISODIC ATAXIA, TYPE 3; EA3 ATAXIA, EPISODIC, WITH VERTIGO AND TINNITUS
Asterisk 606555 TRIPARTITE MOTIF-CONTAINING PROTEIN 9; TRIM9 SNAP25-INTERACTING RING FINGER, RAT, HOMOLOG OF; SPRING;; KIAA0282
Asterisk 606556 TRIPARTITE MOTIF-CONTAINING PROTEIN 14; TRIM14 KIAA0129
Asterisk 606557 B-CELL CLL/LYMPHOMA 11A; BCL11A CTIP1, MOUSE, HOMOLOG OF; CTIP1;; EVI9, MOUSE, HOMOLOG OF; EVI9;; KIAA1809;; FLJ10173
Asterisk 606558 B-CELL CLL/LYMPHOMA 11B; BCL11B CTIP2, MOUSE, HOMOLOG OF; CTIP2;; RADIATION-INDUCED TUMOR SUPPRESSOR GENE 1; RIT1
Asterisk 606559 TRIPARTITE MOTIF-CONTAINING PROTEIN 22; TRIM22 STIMULATED TRANS-ACTING FACTOR, 50-KD; STAF50
Asterisk 606560 SPERM-ASSOCIATED ANTIGEN 11; SPAG11 BIN1B, RAT, HOMOLOG OF;; HE2;; EP2
Asterisk 606561 SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 1; SLC36A1 LYSOSOMAL AMINO ACID TRANSPORTER 1; LYAAT1;; PROTON/AMINO ACID TRANSPORTER 1; PAT1
Asterisk 606562 TRANSMEMBRANE 6 SUPERFAMILY, MEMBER 1; TM6SF1
Asterisk 606563 TRANSMEMBRANE 6 SUPERFAMILY, MEMBER 2; TM6SF2 KIAA1926
Asterisk 606564 PROSTATE TRANSMEMBRANE PROTEIN, ANDROGEN-INDUCED; PMEPA1 TRANSMEMBRANE PROSTATE ANDROGEN-INDUCED RNA; TMEPAI
Asterisk 606565 TRANSMEMBRANE PROTEASE, SERINE 4; TMPRSS4
Asterisk 606566 MYOSIN LIGHT CHAIN KINASE 2; MYLK2 MYOSIN LIGHT POLYPEPTIDE KINASE, SKELETAL/CARDIAC;; MLCK, SKELETAL/CARDIAC
Asterisk 606567 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 4; TM4SF4 INTESTINE AND LIVER TETRASPAN MEMBRANE PROTEIN; ILTMP
Asterisk 606568 LEUCINE ZIPPER TRANSCRIPTION FACTOR-LIKE 1; LZTFL1 BBS17 GENE
Asterisk 606569 SUPPRESSOR OF ACTIN MUTATIONS 1-LIKE; SACM1L SUPPRESSOR OF ACTIN 1; SAC1;; KIAA0851
Asterisk 606570 SECRETED FRIZZLED-RELATED PROTEIN 4; SFRP4 FRIZZLED-RELATED PROTEIN, HUMAN ENDOMETRIUM; FRPHE
Asterisk 606571 LOW DENSITY LIPOPROTEIN RECEPTOR CLASS A DOMAIN-CONTAINING PROTEIN 4; LDLRAD4 LDLR CLASS A DOMAIN-CONTAINING PROTEIN 4;; CHROMOSOME 18 OPEN READING FRAME 1; C18ORF1
Asterisk 606572 NADPH OXIDASE 5; NOX5
Asterisk 606573 FYN-RELATED KINASE; FRK RAK;; GTK, MOUSE, HOMOLOG OF; GTK
Number Sign 606574 ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4 OCULOCUTANEOUS ALBINISM, TYPE IV
Asterisk 606575 MEMBRANE PROTEIN, PALMITOYLATED 4; MPP4 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 6; DLG6
Asterisk 606576 TAF3 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 140-KD; TAF3 TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 140-KD; TAFII140
Asterisk 606577 SRC-LIKE ADAPTOR 2; SLA2 SLAP2
Asterisk 606578 AQUAPORIN 10; AQP10
Number Sign 606579 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1 VITILIGO; VTLG;; SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED; SLEV1
Asterisk 606580 OPA3 GENE; OPA3
Number Sign 606581 POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO; PSAB DRUG ADDICTION, SUSCEPTIBILITY TO
Asterisk 606582 DELTA-LIKE 1; DLL1 DL1;; DELTA, DROSOPHILA, HOMOLOG OF, 1; DELTA1
Asterisk 606583 PEROXIREDOXIN 5; PRDX5 ANTIOXIDANT ENZYME B166; AOEB166
Asterisk 606584 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 23; PTPN23 HIS-DOMAIN PROTEIN-TYROSINE PHOSPHATASE; HDPTP;; KIAA1471
Asterisk 606585 ENAMELIN; ENAM
Asterisk 606586 RETINOIC ACID-INDUCED 14; RAI14 NOVEL RETINAL PIGMENT EPITHELIAL CELL GENE; NORPEG;; KIAA1334
Asterisk 606587 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 18; PTPN18 BRAIN-DERIVED PHOSPHATASE; BDP1
Asterisk 606588 DNA METHYLTRANSFERASE 3-LIKE PROTEIN; DNMT3L DNA CYTOSINE-5-METHYLTRANSFERASE 3-LIKE PROTEIN
Asterisk 606589 SORTING NEXIN 13; SNX13 RGS DOMAIN- AND PHOX DOMAIN-CONTAINING PROTEIN; RGS-PX1;; KIAA0713
Asterisk 606590 NUCLEAR PROTEIN LOCALIZATION 4, S. CEREVISIAE, HOMOLOG OF; NPLOC4 NPL4, S. CEREVISIAE, HOMOLOG OF;; KIAA1499
Asterisk 606591 MUS81, S. CEREVISIAE, HOMOLOG OF; MUS81 SLX3, YEAST, HOMOLOG OF; SLX3
Asterisk 606592 VANIN 3; VNN3
Number Sign 606593 LIG4 SYNDROME
Asterisk 606594 SET DOMAIN-CONTAINING PROTEIN 7; SETD7 SET7;; SET9;; HISTONE H3-LYSINE 4-SPECIFIC METHYLTRANSFERASE;; H3-K4-HMTase;; KIAA1717
Number Sign 606595 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; CMT2F CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2F;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2F
Asterisk 606596 FUKUTIN-RELATED PROTEIN; FKRP
Asterisk 606597 PAIRED BOX GENE 3; PAX3 PAIRED DOMAIN GENE HuP2; HUP2 PAX3/FKHR FUSION GENE, INCLUDED
Asterisk 606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1
Asterisk 606599 THIOREDOXIN-INTERACTING PROTEIN; TXNIP VITAMIN D3-UPREGULATED PROTEIN 1; VDUP1;; THIOREDOXIN-BINDING PROTEIN 2
Asterisk 606600 RAS PROTEIN-SPECIFIC GUANINE NUCLEOTIDE-RELEASING FACTOR 1; RASGRF1 GUANINE NUCLEOTIDE-RELEASING FACTOR, 55-KD; GRF55
Asterisk 606601 ENDOGENOUS RETROVIRAL SEQUENCE E, 1; ERVE1 HERVE1
Asterisk 606602 BRAIN AND ACUTE LEUKEMIA GENE, CYTOPLASMIC; BAALC
Asterisk 606603 EDAR-ASSOCIATED DEATH DOMAIN; EDARADD
Asterisk 606604 F-BOX ONLY PROTEIN 32; FBXO32 MUSCLE ATROPHY F-BOX; MAFBX;; ATROPHY GENE 1; ATROGIN1;; FLJ32424
Asterisk 606605 ATR-INTERACTING PROTEIN; ATRIP
Caret 606606 MOVED TO 262700
Asterisk 606607 PROTEASOME SUBUNIT, ALPHA-TYPE, 7; PSMA7 XAPC7;; PROTEASOME SUBUNIT ALPHA-4
Asterisk 606608 YES-ASSOCIATED PROTEIN 1, 65-KD; YAP1 YAP;; YAP65;; YORKIE, DROSOPHILA, HOMOLOG OF; YKI YAP2, INCLUDED
Asterisk 606609 3-PRIME REPAIR EXONUCLEASE 1; TREX1 DNase III
Asterisk 606610 NSFL1 COFACTOR; NSFL1C p47
Asterisk 606611 DEFENSIN, BETA, 103A; DEFB103A DEFB103;; HBD3;; HBP3;; DEFENSIN, BETA, 3, FORMERLY; DEFB3, FORMERLY
Number Sign 606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C;; MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
Percent 606613 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1; HDLCQ1 HDLC1
Asterisk 606614 RAS PROTEIN-SPECIFIC GUANINE NUCLEOTIDE-RELEASING FACTOR 2; RASGRF2
Asterisk 606615 HYPOXIA-INDUCIBLE FACTOR 1-ALPHA INHIBITOR; HIF1AN HIF1A INHIBITOR;; FACTOR-INHIBITING HIF1A; FIH1
Percent 606616 DYSLEXIA, SUSCEPTIBILITY TO, 6; DYX6
Caret 606617 MOVED TO 604169
Asterisk 606618 DUAL-SPECIFICITY PHOSPHATASE 14; DUSP14 MAP KINASE PHOSPHATASE 6; MKP6
Asterisk 606619 GLUCOSIDASE, BETA, ACID 3; GBA3 BETA-GLUCOSIDASE, CYTOSOLIC; CBGL1;; BETA-GLYCOSIDASE, CYTOSOLIC;; KLOTHO-RELATED PROTEIN; KLRP
Asterisk 606620 SLAM FAMILY, MEMBER 8; SLAMF8 B-LYMPHOCYTE ACTIVATOR, MACROPHAGE-EXPRESSED; BLAME
Asterisk 606621 INTRAFLAGELLAR TRANSPORT 57, CHLAMYDOMONAS, HOMOLOG OF; IFT57 ESTROGEN-RELATED RECEPTOR-BETA-LIKE 1; ESRRBL1;; HIP1 PROTEIN INTERACTOR; HIPPI
Asterisk 606622 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A-LIKE PROTEIN 1; SMARCAL1 SMARCA-LIKE PROTEIN 1;; HepA-RELATED PROTEIN; HARP
Asterisk 606623 17-BETA-HYDROXYSTEROID DEHYDROGENASE VI; HSD17B6 3-ALPHA-HYDROXYSTEROID EPIMERASE; HSE;; RETINOL DEHYDROGENASE; RODH;; OXIDATIVE 3-ALPHA-HYDROXYSTEROID DEHYDROGENASE
Asterisk 606624 NEUROGENIN 2; NEUROG2 NGN2;; ATOH4
Asterisk 606625 SLAM FAMILY, MEMBER 7; SLAMF7 CD2-LIKE RECEPTOR ACTIVATING CYTOTOXIC CELLS; CRACC;; CS1;; CD319
Asterisk 606626 DISHEVELLED-ASSOCIATED ACTIVATOR OF MORPHOGENESIS 1; DAAM1 KIAA0666
Asterisk 606627 DISHEVELLED-ASSOCIATED ACTIVATOR OF MORPHOGENESIS 2; DAAM2 KIAA0381
Asterisk 606628 GLYCINE N-METHYLTRANSFERASE; GNMT
Asterisk 606629 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIMS1 RAB3A-INTERACTING MOLECULE 1; RIM1;; RIM;; KIAA0340
Asterisk 606630 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 2; RIMS2 RAB3A-INTERACTING MOLECULE 2; RIM2;; KIAA0751;; OBOE
Percent 606631 CAMURATI-ENGELMANN DISEASE, TYPE 2 CAEND2
NULL 606632 ODOR, MALE, WOMEN'S CHOICE OF
Asterisk 606633 TRANSCRIPTION FACTOR Sp7; SP7 SPECIFICITY PROTEIN 7;; OSTERIX; OSX
Asterisk 606634 DERMCIDIN; DCD PROTEOLYSIS-INDUCING FACTOR; PIF;; DIFFUSIBLE SURVIVAL/EVASION PEPTIDE; DSEP;; SURVIVAL-PROMOTING PEPTIDE;; CANCER CACHECTIC FACTOR 1; CCF1
Asterisk 606635 PROTEASE, SERINE, 7; PRSS7 ENTEROKINASE; ENTK;; PROENTEROKINASE
Asterisk 606636 NLR FAMILY, PYRIN DOMAIN-CONTAINING 1; NLRP1 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 1; NALP1;; DEATH EFFECTOR FILAMENT-FORMING CED4-LIKE APOPTOSIS PROTEIN; DEFCAP;; KIAA0926;; CARD7;; NLRP1A, MOUSE, HOMOLOG OF; NLRP1A DEFCAP-L, INCLUDED;; DEFCAP-S, INCLUDED
Asterisk 606637 PEPTIDE YY, 2; PYY2 SEMINALPLASMIN
Asterisk 606638 PANCREATIC POLYPEPTIDE 2; PPY2
Asterisk 606639 MITOCHONDRIAL ELONGATION FACTOR G1; GFM1 ELONGATION FACTOR G1; EFG; EFG1;; GFM
Percent 606640 AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3
Percent 606641 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 1; BMIQ1 BODY MASS INDEX; BMI
Caret 606642 MOVED TO 606641
Percent 606643 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 2; BMIQ2
Asterisk 606644 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 8; IGSF8 PROSTAGLANDIN REGULATORY-LIKE; PGRL;; CD81 PARTNER 3; CD81P3
Asterisk 606645 CENTAURIN, DELTA-1; CENTD1 ARF-GAP, RHO-GAP, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 2; ARAP2;; KIAA0580
Asterisk 606646 CENTAURIN, DELTA-2; CENTD2 ARF-GAP, RHO-GAP, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 1; ARAP1;; KIAA0782
Asterisk 606647 CENTAURIN, DELTA-3; CENTD3 ARF-GAP, RHO-GAP, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 3; ARAP3
Asterisk 606648 INTERLEUKIN 22 RECEPTOR, ALPHA-2; IL22RA2 INTERLEUKIN 22-BINDING PROTEIN; IL22BP
Asterisk 606649 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 3; HIVEP3 ZAS FAMILY, MEMBER 3; ZAS3;; KRC, MOUSE, HOMOLOG OF; KRC;; SCHNURRI, DROSOPHILA, HOMOLOG OF, 3; SHN3
Asterisk 606650 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3A; GRIN3A NR3A
Asterisk 606651 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3B; GRIN3B NR3B
Asterisk 606652 HEPATITIS A VIRUS CELLULAR RECEPTOR 2; HAVCR2 T-CELL IMMUNOGLOBULIN AND MUCIN DOMAINS-CONTAINING PROTEIN 3; TIM3
Asterisk 606653 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 6; LGR6
Asterisk 606654 RELAXIN/INSULIN-LIKE FAMILY PEPTIDE RECEPTOR 1; RXFP1 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 7; LGR7
Asterisk 606655 RELAXIN/INSULIN-LIKE FAMILY PEPTIDE RECEPTOR 2; RXFP2 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 8; LGR8;; GREAT;; GPR106
Percent 606656 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2; IBGC2
Number Sign 606657 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO NTG;; GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO; NPG
Number Sign 606658 SPINOCEREBELLAR ATAXIA 15; SCA15 SPINOCEREBELLAR ATAXIA 16, FORMERLY; SCA16, FORMERLY
Asterisk 606659 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, B; TIMM8B TIM8B;; DEAFNESS/DYSTONIA PEPTIDE 2; DDP2
Percent 606660 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 UVM1
Percent 606661 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 UVM2
Percent 606662 WAARDENBURG SYNDROME, TYPE 2C; WS2C WAARDENBURG SYNDROME, TYPE IIC
Asterisk 606663 LYSYL OXIDASE-LIKE 2; LOXL2
Number Sign 606664 GLYCINE N-METHYLTRANSFERASE DEFICIENCY GNMT DEFICIENCY
Asterisk 606665 OPSIN 4; OPN4 MELANOPSIN
Asterisk 606666 G PROTEIN-COUPLED RECEPTOR 48; GPR48 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 4; LGR4
Asterisk 606667 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 5; LGR5 G PROTEIN-COUPLED RECEPTOR 49; GPR49
Percent 606668 INFLAMMATORY BOWEL DISEASE 8; IBD8
Asterisk 606669 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 5; FXYD5 DYSADHERIN
Asterisk 606670 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 11; PPP1R11 PROTEIN PHOSPHATASE 1 INHIBITOR 3; IPP3;; TCTEX5, MOUSE, HOMOLOG OF; TCTEX5
Asterisk 606671 NCK-INTERACTING PROTEIN WITH SH3 DOMAIN; NCKIPSD ALL1-FUSED GENE FROM CHROMOSOME 3p21; AF3P21;; SH3 PROTEIN INTERACTING WITH NCK, 90-KD; SPIN90;; WASP-INTERACTING SH3 PROTEIN; WISH
Asterisk 606672 GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE; GP1BA GP Ib, ALPHA SUBUNIT;; PLATELET GLYCOPROTEIN Ib, ALPHA POLYPEPTIDE;; CD42B GLYCOCALICIN, INCLUDED
Asterisk 606673 BETA-UREIDOPROPIONASE; UPB1 BUP1;; BETA-ALANINE SYNTHASE
Percent 606674 INFLAMMATORY BOWEL DISEASE 6; IBD6
Percent 606675 INFLAMMATORY BOWEL DISEASE 4; IBD4
Asterisk 606676 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 2; TRPV2 VANILLOID RECEPTOR-LIKE PROTEIN 1; VRL1
Asterisk 606677 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER C; CLEC4C LECTIN, C-TYPE, SUPERFAMILY MEMBER 11; CLECSF11;; DENDRITIC CELL LECTIN; DLEC;; BLOOD DENDRITIC CELL ANTIGEN 2; BDCA2;; CLECSF7;; HECL;; CD303 ANTIGEN; CD303
Asterisk 606678 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 8; TRPM8 TRPP8;; COLD-MENTHOL RECEPTOR 1; CMR1
Asterisk 606679 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 5; TRPV5 EPITHELIAL CALCIUM CHANNEL 1; ECAC1;; CALCIUM TRANSPORTER 2; CAT2
Asterisk 606680 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 6; TRPV6 EPITHELIAL CALCIUM CHANNEL 2; ECAC2;; CALCIUM TRANSPORTER 1; CAT1;; CALCIUM TRANSPORTER-LIKE PROTEIN; CATL
Asterisk 606681 NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 1; NSD1 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX DOMAIN PROTEIN 1;; SET DOMAIN PROTEIN 1;; ANDROGEN RECEPTOR-ASSOCIATED COREGULATOR 267; ARA267 NSD1/NUP98 FUSION GENE, INCLUDED
Asterisk 606682 HPS4 GENE; HPS4 LIGHT EAR, MOUSE, HOMOLOG OF; LE
Asterisk 606683 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 6; FXYD6
Asterisk 606684 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 7; FXYD7
Number Sign 606685 CARDIOMYOPATHY, DILATED, 1L; CMD1L
Asterisk 606686 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1; EIF2B1 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, ALPHA;; EIF2B-ALPHA
Asterisk 606687 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4; EIF2B4 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, DELTA;; EIF2B-DELTA
Number Sign 606688 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
Percent 606689 GLAUCOMA 1, OPEN ANGLE, B; GLC1B
Number Sign 606690 LYMPHANGIOLEIOMYOMATOSIS; LAM LYMPHANGIOMYOMATOSIS
Asterisk 606691 CARCINOEMBRYONIC ANTIGEN-LIKE 1; CEAL1
Asterisk 606692 TNF RECEPTOR-ASSOCIATED FACTOR 7; TRAF7 RING FINGER AND WD REPEAT DOMAINS-CONTAINING PROTEIN 1; RFWD1
Number Sign 606693 KUFOR-RAKEB SYNDROME; KRS PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE, JUVENILE-ONSET; PARK9;; PALLIDOPYRAMIDAL DEGENERATION WITH SUPRANUCLEAR UPGAZE PARESIS AND DEMENTIA; KRPPD
Asterisk 606694 NUCLEOPORIN, 155-KD; NUP155 KIAA0791
Asterisk 606695 OPSIN 3; OPN3 PANOPSIN;; ENCEPHALOPSIN; ECPN
Asterisk 606696 KATANIN, p60 SUBUNIT, A1; KATNA1
Asterisk 606697 ZINC FINGER PROTEIN ZK1 ZK1
Asterisk 606698 SRY-BOX 30 SOX30
Asterisk 606699 HELICASE WITH ZINC FINGER DOMAIN; HELZ KIAA0054;; HUMORF5
Asterisk 606700 MIDNOLIN, MOUSE, HOMOLOG OF; MIDN
Asterisk 606701 DORSAL ROOT GANGLIA HOMEOBOX; DRGX DRG11, RAT, HOMOLOG OF; DRG11;; PRRXL1, MOUSE, HOMOLOG OF; PRRXL1
Asterisk 606702 PKHD1 GENE; PKHD1 FIBROCYSTIN; FCYT;; POLYDUCTIN;; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 GENE
Number Sign 606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM
Asterisk 606704 G PROTEIN-COUPLED RECEPTOR 75; GPR75
Number Sign 606705 DEAFNESS, AUTOSOMAL DOMINANT 36; DFNA36
Asterisk 606706 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 1; TMC1 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1
Asterisk 606707 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 2; TMC2 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 2
Percent 606708 SPLIT-HAND/FOOT MALFORMATION 5; SHFM5
Asterisk 606709 PROTEASE, SERINE, 12; PRSS12 NEUROTRYPSIN;; MOTOPSIN;; BRAIN-SPECIFIC SERINE PROTEASE 3; BSSP3
Asterisk 606710 LIPOMA HMGIC FUSION PARTNER; LHFP LHFP/HMGIC FUSION GENE, INCLUDED
Percent 606711 SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 16
Percent 606712 SPECIFIC LANGUAGE IMPAIRMENT 2; SLI2 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19
Number Sign 606713 VAN DER WOUDE SYNDROME 2; VWS2
Asterisk 606714 PROLINE-RICH NUCLEAR RECEPTOR COACTIVATOR 1; PNRC1 PROLINE-RICH PROTEIN 2; PROL2
Asterisk 606715 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 4; ACCN4 ACID-SENSING ION CHANNEL 4; ASIC4;; BRAIN SODIUM CHANNEL 4; BNAC4
Asterisk 606716 N-ACETYLTRANSFERASE 8; NAT8 TSC510;; CAMELLO, XENOPUS, HOMOLOG OF, 1; CML1
Asterisk 606717 XIAP-ASSOCIATED FACTOR 1; XAF1
Asterisk 606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2 DTD SULFATE TRANSPORTER; DTDST
Number Sign 606719 MELANOMA-PANCREATIC CANCER SYNDROME FAMILIAL ATYPICAL MULTIPLE MOLE MELANOMA-PANCREATIC CARCINOMA SYNDROME; FAMMMPC
Asterisk 606720 ENDONUCLEASE, POLY(U)-SPECIFIC; ENDOU PLACENTAL PROTEIN 11; PP11
Number Sign 606721 PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS LIPODYSTROPHY, PARTIAL, WITH CONGENITAL CATARACTS AND NEURODEGENERATION
Asterisk 606722 NEUROCALCIN, DELTA; NCALD
Asterisk 606723 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 5; MAPKAPK5 MAPKAP KINASE 5; MK5;; p38-REGULATED/ACTIVATED KINASE; PRAK
Asterisk 606724 MITOGEN-ACTIVATED PROTEIN KINASE-INTERACTING SERINE/THREONINE KINASE 1; MKNK1 MAPK-INTERACTING KINASE 1; MNK1
Asterisk 606725 CLN6 GENE; CLN6
Asterisk 606726 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 5; SLC12A5 POTASSIUM-CHLORIDE COTRANSPORTER 2; KCC2;; KIAA1176
Asterisk 606727 NK2 HOMEOBOX 3; NKX2-3 NK2, DROSOPHILA, HOMOLOG OF, C; NKX2C;; NK2.3, MOUSE, HOMOLOG OF;; CARDIAC-SPECIFIC HOMEOBOX 3; CSX3
Asterisk 606728 CAVEOLAE-ASSOCIATED PROTEIN 2; CAVIN2 SERUM DEPRIVATION RESPONSE PHOSPHATIDYLSERINE-BINDING PROTEIN; SDPR;; SDR
Asterisk 606729 OXYSTEROL-BINDING PROTEIN 2; OSBP2 OSBP-RELATED PROTEIN 4; ORP4;; KIAA1664
Asterisk 606730 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 1A; OSBPL1A OSBP-RELATED PROTEIN 1; ORP1;; OSBPL1B
Asterisk 606731 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 2; OSBPL2 OSBP-RELATED PROTEIN 2; ORP2;; KIAA0772
Asterisk 606732 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 3; OSBPL3 OSBP-RELATED PROTEIN 3; ORP3;; KIAA0704
Asterisk 606733 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 5; OSBPL5 OSBP-RELATED PROTEIN 5; ORP5;; KIAA1534;; OBPH1
Asterisk 606734 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 6; OSBPL6 OSBP-RELATED PROTEIN 6; ORP6
Asterisk 606735 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 7; OSBPL7 OSBP-RELATED PROTEIN 7; ORP7
Asterisk 606736 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 8; OSBPL8 OSBP-RELATED PROTEIN 8; ORP8;; KIAA1451
Asterisk 606737 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 9; OSBPL9 OSBP-RELATED PROTEIN 9; ORP9
Asterisk 606738 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 10; OSBPL10 OSBP-RELATED PROTEIN 10; ORP10
Asterisk 606739 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 11; OSBPL11 OSBP-RELATED PROTEIN 11; ORP11
Asterisk 606740 ZINC FINGER PROTEIN 180; ZNF180
Asterisk 606741 ZINC FINGER PROTEIN 181; ZNF181
Asterisk 606742 TOLLOID-LIKE 1; TLL1 TLL
Asterisk 606743 TOLLOID-LIKE 2; TLL2 KIAA0932
Number Sign 606744 SECKEL SYNDROME 2; SCKL2 SECKEL-TYPE DWARFISM 2;; MICROCEPHALIC PRIMORDIAL DWARFISM 2
Asterisk 606745 PARTITIONING-DEFECTIVE PROTEIN 3, C. ELEGANS, HOMOLOG OF; PARD3 PAR3
Asterisk 606746 CHROMOSOME 19 OPEN READING FRAME 10; C19ORF10 INTERLEUKIN 25; IL25;; STROMA-DERIVED GROWTH FACTOR 20; SF20
Asterisk 606747 VASCULAR ENDOTHELIAL ZINC FINGER 1; VEZF1 ZINC FINGER PROTEIN 161; ZNF161
Asterisk 606748 COACTOSIN-LIKE PROTEIN 1; COTL1 CLP
Asterisk 606749 TUBULOINTERSTITIAL NEPHRITIS ANTIGEN; TINAG TIN1, INCLUDED;; TIN2, INCLUDED
Asterisk 606750 Z-DNA BINDING PROTEIN 1; ZBP1 CHROMOSOME 20 OPEN READING FRAME 183; C20ORF183;; TUMOR STROMA AND ACTIVATED MACROPHAGE PROTEIN DLM1; DLM1;; DNA-DEPENDENT ACTIVATOR OF INTERFERON REGULATORY FACTORS; DAI
Asterisk 606751 TRANSMEMBRANE PROTEASE, SERINE 5; TMPRSS5 SPINAL CORD-ENRICHED TRYPSIN-LIKE PROTEASE; SPINESIN
NULL 606752 ACUTE HEMORRHAGIC LEUKOENCEPHALITIS AHL
Asterisk 606753 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 4; TTC4
Asterisk 606754 SAM DOMAIN- AND HD DOMAIN-CONTAINING PROTEIN 1; SAMHD1 DENDRITIC CELL-DERIVED IFNG-INDUCED PROTEIN; DCIP
Asterisk 606755 PEPTIDYLARGININE DEIMINASE, TYPE III; PADI3 PDI3
Asterisk 606756 17-BETA-HYDROXYSTEROID DEHYDROGENASE VII; HSD17B7
Asterisk 606757 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 5; SLC4A5 SODIUM BICARBONATE COTRANSPORTER 4; NBC4
Asterisk 606758 DUAL OXIDASE 1; DUOX1 THYROID OXIDASE 1; THOX1
Asterisk 606759 DUAL OXIDASE 2; DUOX2 THYROID OXIDASE 2; THOX2
Caret 606760 MOVED TO 603977
Asterisk 606761 MALONYL-CoA DECARBOXYLASE; MLYCD MCD
Number Sign 606762 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6 HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
Number Sign 606763 CILIARY DYSKINESIA, PRIMARY, 2; CILD2 CILIARY DYSKINESIA, PRIMARY, 2, WITH OR WITHOUT SITUS INVERSUS
Number Sign 606764 GASTROINTESTINAL STROMAL TUMOR; GIST
Asterisk 606765 THYROID PEROXIDASE; TPO THYROPEROXIDASE
Number Sign 606766 SPERMATOGENIC FAILURE 3; SPGF3
Asterisk 606767 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 3; KCNG3 KV6.3;; KV10.1
Number Sign 606768 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT
Asterisk 606769 HELICASE, POLQ-LIKE; HELQ POLQ-LIKE HELICASE;; HEL308
Percent 606770 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; ADIPQTL2 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 5; CAQ5
Percent 606771 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3; ADIPQTL3 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14; CAQ14
Percent 606772 MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKIN ANOMALIES MOMES SYNDROME
NULL 606773 HEMIFACIAL MYOHYPERPLASIA; HMH
Asterisk 606774 MYOINOSITOL OXYGENASE; MIOX ALDEHYDE REDUCTASE-LIKE 6; ALDRL6;; ALDOSE REDUCTASE-LIKE 6;; ALDR6R
Asterisk 606775 CHONDROITIN SULFATE PROTEOGLYCAN 5; CSPG5 NEUROGLYCAN C; NGC
Asterisk 606776 TRANSGLUTAMINASE 7; TGM7 TRANSGLUTAMINASE Z
Number Sign 606777 GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE, INCLUDED
Asterisk 606778 SLINGSHOT, DROSOPHILA, HOMOLOG OF, 1; SSH1 KIAA1298
Asterisk 606779 SLINGSHOT, DROSOPHILA, HOMOLOG OF, 2; SSH2 KIAA1725
Asterisk 606780 SLINGSHOT, DROSOPHILA, HOMOLOG OF, 3; SSH3
Asterisk 606781 TRANSKETOLASE; TKT TKT1
Asterisk 606782 C-TYPE LECTIN DOMAIN FAMILY 1, MEMBER A; CLEC1A C-TYPE LECTIN-LIKE RECEPTOR 1; CLEC1
Asterisk 606783 C-TYPE LECTIN DOMAIN FAMILY 1, MEMBER B; CLEC1B C-TYPE LECTIN-LIKE RECEPTOR 2; CLEC2
Asterisk 606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A
Number Sign 606785 CRIGLER-NAJJAR SYNDROME, TYPE II HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II; HBLRCN2
Asterisk 606786 CD300C ANTIGEN; CD300C CMRF35 ANTIGEN; CMRF35;; CMRF35A;; CMRF35A1
Percent 606787 PERIPHERAL ARTERIAL OCCLUSIVE DISEASE 1 PAOD1
Percent 606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1; ANON1 AN
Percent 606789 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 4; HBFQTL4
Asterisk 606790 CD300A ANTIGEN; CD300A CMRF35H ANTIGEN; CMRF35H;; CMRF35H9;; IRP60
Asterisk 606791 TRANSMEMBRANE PHOSPHOINOSITIDE 3-PHOSPHATASE AND TENSIN HOMOLOG 2; TPTE2 TPTE AND PTEN HOMOLOGOUS INOSITOL LIPID PHOSPHATASE; TPIP TPIP-ALPHA, INCLUDED;; TPIP-BETA, INCLUDED
Asterisk 606792 HISTAMINE RECEPTOR H4; HRH4 HH4R
Asterisk 606793 AMINOPEPTIDASE, PUROMYCIN-SENSITIVE; NPEPPS PSA;; METALLOPROTEASE MP100; MP100
Asterisk 606794 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 10; SLC25A10 DICARBOXYLATE ION CARRIER; DIC
Asterisk 606795 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 17; SLC25A17 PEROXISOMAL MEMBRANE PROTEIN, 34-KD; PMP34
Asterisk 606796 SUPPRESSION OF TUMORIGENICITY 13; ST13 P48;; HSC70-INTERACTING PROTEIN; HIP
Asterisk 606797 SUPPRESSION OF TUMORIGENICITY 14; ST14 MATRIPTASE;; EPITHIN;; MEMBRANE-TYPE SERINE PROTEASE 1; MTSP1
Number Sign 606798 BLEPHAROSPASM, BENIGN ESSENTIAL
Percent 606799 STROKE, SUSCEPTIBILITY TO, 1 STRK1
Asterisk 606800 GLUCOSIDASE, ALPHA, ACID; GAA ACID ALPHA-GLUCOSIDASE;; ALPHA-GLUCOSIDASE, ACID;; ALPHA-1,4-GLUCOSIDASE;; ACID MALTASE
Asterisk 606801 MACROPHAGE ERYTHROBLAST ATTACHER; MAEA ERYTHROBLAST MACROPHAGE PROTEIN; EMP;; GID COMPLEX, SUBUNIT 9; GID9;; GLUCOSE-INDUCED DEGRADATION-DEFICIENT PROTEIN 9, S. CEREVISIAE, HOMOLOG OF
Asterisk 606802 SPIB TRANSCRIPTION FACTOR; SPIB
Asterisk 606803 ACYL-CoA THIOESTERASE 11; ACOT11 THIOESTERASE, ADIPOSE-ASSOCIATED; THEA;; BROWN FAT-INDUCIBLE THIOESTERASE; BFIT;; KIAA0707 BFIT1, INCLUDED;; BFIT2, INCLUDED
Asterisk 606804 GOLGI MEMBRANE PROTEIN 1; GOLM1 GOLGI PHOSPHOPROTEIN 2; GOLPH2;; GOLGI PROTEIN, 73-KD; GP73
Asterisk 606805 GOLGI INTEGRAL MEMBRANE PROTEIN 4; GOLIM4 GOLGI PHOSPHOPROTEIN 4; GOLPH4;; GOLGI PHOSPHOPROTEIN, 130-KD; GPP130
Asterisk 606806 FORMIMINOTRANSFERASE CYCLODEAMINASE; FTCD
Asterisk 606807 INTERLEUKIN 17 RECEPTOR D; IL17RD SEF, ZEBRAFISH, HOMOLOG OF; SEF
Asterisk 606808 MYOSIN IIIA; MYO3A
Asterisk 606809 ACYL-CoA-BINDING DOMAIN-CONTAINING PROTEIN 3; ACBD3 GOLGI COMPLEX-ASSOCIATED PROTEIN 1; GOCAP1;; GOLGI PHOSPHOPROTEIN 1; GOLPH1;; GOLGI COMPLEX-ASSOCIATED PROTEIN, 60-KD; GCP60
Asterisk 606810 PROLINE DEHYDROGENASE 1; PRODH PRODH1;; PROLINE OXIDASE 1; POX
Asterisk 606811 ALDEHYDE DEHYDROGENASE, FAMILY 4, SUBFAMILY A, MEMBER 1; ALDH4A1 ALDEHYDE DEHYDROGENASE 4; ALDH4;; PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH; P5CD
Number Sign 606812 FUMARASE DEFICIENCY; FMRD FUMARIC ACIDURIA
Asterisk 606813 SOLUTE CARRIER FAMILY 2i (FACILITATED GLUCOSE TRANSPORTER), MEMBER 6; SLC2A6
Asterisk 606814 PROTEOGLYCAN 3; PRG3 PREPRO-MAJOR BASIC PROTEIN HOMOLOG; MBPH
Asterisk 606815 CBP/P300-INTERACTING TRANSACTIVATOR, WITH GLU/ASP-RICH CARBOXY TERMINAL DOMAIN, 4; CITED4 TRANSCRIPTIONAL COACTIVATOR 4
Asterisk 606816 SID1 TRANSMEMBRANE FAMILY, MEMBER 1; SIDT1 SID1, C. ELEGANS, HOMOLOG OF
Asterisk 606817 PRE-T-CELL RECEPTOR, ALPHA-CHAIN PRECURSOR; PTCRA PT-ALPHA
Asterisk 606818 DIPEPTIDYL PEPTIDASE III; DPP3
Asterisk 606819 DIPEPTIDYL PEPTIDASE VIII; DPP8
Asterisk 606820 GLUTAREDOXIN 2; GLRX2 GRX2
Asterisk 606821 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 5; COG5 GOLGI TRANSPORT COMPLEX 1; GOLTC1;; GOLGI TRANSPORT COMPLEX, 90-KD SUBUNIT; GTC90
Asterisk 606822 PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1
Asterisk 606823 ADHESION G PROTEIN-COUPLED RECEPTOR A2; ADGRA2 G PROTEIN-COUPLED RECEPTOR 124; GPR124;; TUMOR ENDOTHELIAL MARKER 5; TEM5;; KIAA1531
Number Sign 606824 GLUCOSE/GALACTOSE MALABSORPTION; GGM MONOSACCHARIDE MALABSORPTION; GM
Asterisk 606825 TENSIN 3; TNS3 TUMOR ENDOTHELIAL MARKER 6; TEM6
Asterisk 606826 PLEXIN DOMAIN-CONTAINING PROTEIN 1; PLXDC1 TUMOR ENDOTHELIAL MARKER 7; TEM7
Asterisk 606827 PLEXIN DOMAIN-CONTAINING PROTEIN 2; PLXDC2 TUMOR ENDOTHELIAL MARKER 7-RELATED PROTEIN; TEM7R
Asterisk 606828 N-ACETYLGLUCOSAMINE KINASE; NAGK GlcNAc KINASE; GNK
Asterisk 606829 FRATAXIN; FXN FRDA GENE;; X25
Asterisk 606830 ATP/GTP-BINDING PROTEIN 1; AGTPBP1 NERVOUS SYSTEM NUCLEAR PROTEIN INDUCED BY AXOTOMY; NNA1;; KIAA1035;; CYTOSOLIC CARBOXYPEPTIDASE 1; CCP1
Asterisk 606831 NLR FAMILY, CASPASE RECRUITMENT DOMAIN-CONTAINING 4; NLRC4 NLR FAMILY, CARD-CONTAINING 4;; CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 12; CARD12;; CARD, LRR, AND NACHT DOMAIN-CONTAINING PROTEIN; CLAN;; ICE PROTEASE-ACTIVATING FACTOR; IPAF
Asterisk 606832 ENDOPLASMIC RETICULUM AMINOPEPTIDASE 1; ERAP1 ADIPOCYTE-DERIVED LEUCINE AMINOPEPTIDASE; ALAP;; AMINOPEPTIDASE REGULATOR OF TNFR1 SHEDDING 1; ARTS1;; PUROMYCIN-INSENSITIVE LEUCYL-SPECIFIC AMINOPEPTIDASE; PILSAP;; ENDOPLASMIC RETICULUM AMINOPEPTIDASE ASSOCIATED WITH ANTIGEN PROCESSING; ERAAP;; KIAA0525
Asterisk 606833 LYSINE-SPECIFIC METHYLTRANSFERASE 2C; KMT2C MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 3; MLL3;; KIAA1506
Asterisk 606834 LYSINE-SPECIFIC METHYLTRANSFERASE 2B; KMT2B MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 4; MLL4;; MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 2; MLL2;; TRITHORAX, DROSOPHILA, HOMOLOG OF, 2; TRX2;; KIAA0304
Number Sign 606835 DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB
Asterisk 606836 GLUCOSAMINYL (N-ACETYL) TRANSFERASE 3, MUCIN-TYPE; GCNT3 BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE 3
Asterisk 606837 RB1-INDUCIBLE COILED-COIL 1; RB1CC1 CC1;; FAK FAMILY KINASE-INTERACTING PROTEIN, 200-KD; FIP200;; KIAA0203
Asterisk 606838 PYD AND CARD DOMAIN-CONTAINING PROTEIN; PYCARD APOPTOSIS-ASSOCIATED SPECK-LIKE PROTEIN CONTAINING A CARD; ASC;; TARGET OF METHYLATION-INDUCED SILENCING 1; TMS
Asterisk 606839 CADHERIN-RELATED FAMILY, MEMBER 5; CDHR5 MUCIN AND CADHERIN-LIKE; MUCDHL
Percent 606840 PARASOMNIA, SLEEP BRUXISM TYPE; PSMNSB FACIOMANDIBULAR MYOCLONUS, NOCTURNAL PARASOMNIA, SLEEPTALKING TYPE, INCLUDED; PSMNST, INCLUDED
Asterisk 606841 DEATH EFFECTOR DOMAIN-CONTAINING PROTEIN; DEDD DEATH EFFECTOR DOMAIN-CONTAINING DNA-BINDING PROTEIN;; DEATH EFFECTOR DOMAIN-CONTAINING TESTICULAR PROTEIN; DEFT
Percent 606842 CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS
Number Sign 606843 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3 HYPER-IgM SYNDROME 3
Asterisk 606844 ALMS1 GENE; ALMS1 KIAA0328
Asterisk 606845 GOLGI-ASSOCIATED PDZ AND COILED-COIL DOMAINS-CONTAINING PROTEIN; GOPC PDZ PROTEIN INTERACTING SPECIFICALLY WITH TC10; PIST;; FUSED IN GLIOBLASTOMA; FIG;; CFTR-ASSOCIATED LIGAND; CAL FIG/ROS1 FUSION GENE, INCLUDED
Asterisk 606846 SET AND MYND DOMAIN-CONTAINING PROTEIN 1; SMYD1 CD8B-OPPOSITE; BOP;; ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 18; ZMYND18
Asterisk 606847 TCOF1 GENE; TCOF1 TREACLE
Asterisk 606848 NEVER IN MITOSIS GENE A-RELATED KINASE 7; NEK7 NIMA-RELATED KINASE 7
Asterisk 606849 UBIQUITIN-LIKE 5; UBL5 HUB1, S. CEREVISIAE, HOMOLOG OF; HUB1
Asterisk 606850 MIPOL1 GENE; MIPOL1
NULL 606851 CREE MENTAL RETARDATION SYNDROME
Percent 606852 PARKINSON DISEASE 10; PARK10 PARKINSON DISEASE, AGE AT ONSET OF; AAOPD
Asterisk 606853 ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 2; ATP6V1G2 ATP6G2
Number Sign 606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT
Asterisk 606855 RELAXIN 3; RLN3 H3;; RXN3
Number Sign 606856 PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 PNCA1
Asterisk 606857 GLUTAMATE-CYSTEINE LIGASE, CATALYTIC SUBUNIT; GCLC GLCLC;; GAMMA-GLUTAMYLCYSTEINE SYNTHETASE, CATALYTIC SUBUNIT
Caret 606858 MOVED TO 251200
Caret 606859 MOVED TO 270700
Asterisk 606860 COMPLEMENT COMPONENT 1 INHIBITOR; C1NH C1I; C1INH;; SERPIN PEPTIDASE INHIBITOR, CLADE G, MEMBER 1; SERPING1
Asterisk 606861 PROSTATE- AND TESTIS-EXPRESSED GENE; PATE
Asterisk 606862 OSTEOCLAST-ASSOCIATED RECEPTOR; OSCAR
Asterisk 606863 THYMOCYTE SELECTION-ASSOCIATED HIGH MOBILITY GROUP BOX; TOX THYMUS HIGH MOBILITY GROUP BOX PROTEIN, MOUSE, HOMOLOG OF;; TOX1;; KIAA0808
Number Sign 606864 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA CARNEY-STRATAKIS SYNDROME;; PARAGANGLIOMA AND GASTROINTESTINAL STROMAL TUMOR; GIST
Asterisk 606865 FUCOSYLTRANSFERASE 9; FUT9
Asterisk 606866 MITOCHONDRIAL RIBOSOMAL PROTEIN L49; MRPL49 NEXT TO FAU; NOF; NOF1
Asterisk 606867 GOLGI REASSEMBLY STACKING PROTEIN 1; GORASP1 GOLGI PHOSPHOPROTEIN 5; GOLPH5;; GOLGI REASSEMBLY AND STACKING PROTEIN, 65-KD; GRASP65;; GOLGI PERIPHERAL MEMBRANE PROTEIN P65; P65
Asterisk 606868 HOMEODOMAIN-INTERACTING PROTEIN KINASE 2; HIPK2
Asterisk 606869 HEXOSAMINIDASE A; HEXA BETA-HEXOSAMINIDASE A
Asterisk 606870 JUNCTIONAL ADHESION MOLECULE 2; JAM2 JAM, VASCULAR ENDOTHELIAL; VEJAM;; JAM-B
Asterisk 606871 JUNCTIONAL ADHESION MOLECULE 3; JAM3 JAM-C
Asterisk 606872 CAS-BR-M MURINE ECTOPIC RETROVIRAL TRANSFORMING SEQUENCE LIKE-1; CBLL1 HAKAI, MOUSE, HOMOLOG OF; HAKAI
Asterisk 606873 HEXOSAMINIDASE B; HEXB ENC1, ANTISENSE, INCLUDED; ENC1AS, INCLUDED
Percent 606874 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 6; HSCR6
Percent 606875 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 7; HSCR7
Asterisk 606876 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, BETA; PITPNB
Asterisk 606877 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER C; ANP32C PP32R1
Asterisk 606878 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER D; ANP32D PP32R2
Asterisk 606879 PHOSPHOGLYCERATE DEHYDROGENASE; PHGDH 3-PHOSPHOGLYCERATE DEHYDROGENASE; 3PGDH
Asterisk 606880 CASPASE 8-ASSOCIATED PROTEIN 2; CASP8AP2 FLICE-ASSOCIATED HUGE PROTEIN; FLASH;; KIAA1315
Asterisk 606881 FORMIN HOMOLOGY-2 DOMAIN-CONTAINING PROTEIN 1; FHOD1 FH1/FH2 DOMAIN-CONTAINING PROTEIN; FHOS
Asterisk 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B
Asterisk 606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4 REN64
Asterisk 606884 RNA-BINDING MOTIF PROTEIN 5; RBM5 LUCA15;; G15
Asterisk 606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS SHORT-CHAIN ACYL-CoA DEHYDROGENASE; SCAD;; ACYL-CoA DEHYDROGENASE, C-2 TO C-3 SHORT CHAIN
Asterisk 606886 RNA-BINDING MOTIF PROTEIN 6; RBM6 DEF3
Asterisk 606887 SULFITE OXIDASE; SUOX
Asterisk 606888 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 6; CHRNA6
Number Sign 606889 ALZHEIMER DISEASE 4 AD4;; ALZHEIMER DISEASE, FAMILIAL, 4
Asterisk 606890 GALACTOSYLCERAMIDASE; GALC GALACTOCEREBROSIDASE
Asterisk 606891 Fc RECEPTOR-LIKE PROTEIN A; FCRLA Fc RECEPTOR HOMOLOG EXPRESSED IN B CELLS; FREB;; FCRX;; Fc RECEPTOR-LIKE PROTEIN; FCRL;; FCRL1
Asterisk 606892 SYNTAXIN 12; STX12 STX13
Number Sign 606893 VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS VASCULAR MALFORMATION OSSEOUS; VMOS;; HEMANGIOMA, INTRAOSSEOUS
NULL 606894 DUODENOJEJUNAL ATRESIA WITH VOLVULUS, ABSENT DORSAL MESENTERY, AND ABSENT SUPERIOR MESENTERIC ARTERY
NULL 606895 SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED ZYGOMATIC ARCH
Percent 606896 DYSLEXIA, SUSCEPTIBILITY TO, 5; DYX5
Asterisk 606897 LYSOSOMAL TRAFFICKING REGULATOR; LYST CHS1 GENE; CHS1
Asterisk 606898 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-6 SUBUNIT; CACNG6
Asterisk 606899 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-7 SUBUNIT; CACNG7
Asterisk 606900 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-8 SUBUNIT; CACNG8
Caret 606901 MOVED TO 604754
Asterisk 606902 PYGOPUS, DROSOPHILA, HOMOLOG OF, 1 PYGO1
Asterisk 606903 PYGOPUS, DROSOPHILA, HOMOLOG OF, 2 PYGO2
Caret 606904 MOVED TO 254770
Asterisk 606905 PHOSPHATIDYLINOSITOL 3,4,5-TRISPHOSPHATE-DEPENDENT RAC EXCHANGER 1; PREX1 KIAA1415
Asterisk 606906 FTSJ, E. COLI, HOMOLOG OF, 2; FTSJ2 FJH1
Asterisk 606907 APOLIPOPROTEIN M; APOM NG20, MOUSE, HOMOLOG OF
Asterisk 606908 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 2; ARFGAP2 ZINC FINGER PROTEIN 289, ID1-REGULATED, FORMERLY; ZNF289, FORMERLY
Asterisk 606909 VESICLE-ASSOCIATED MEMBRANE PROTEIN 4; VAMP4
Asterisk 606910 BCL2-LIKE 10; BCL2L10
Asterisk 606911 SECRETORY CARRIER MEMBRANE PROTEIN 1; SCAMP1 SCAMP37, RAT, HOMOLOG OF
Asterisk 606912 SECRETORY CARRIER MEMBRANE PROTEIN 2; SCAMP2
Asterisk 606913 SECRETORY CARRIER MEMBRANE PROTEIN 3; SCAMP3 PROPIN1
Asterisk 606914 PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR BETA; PKIB
Asterisk 606915 G PROTEIN-COUPLED RECEPTOR 63; GPR63 PSP24B
Asterisk 606916 G PROTEIN-COUPLED RECEPTOR 61; GPR61 BIOGENIC AMINE RECEPTOR-LIKE GPCR; BALGR
Asterisk 606917 G PROTEIN-COUPLED RECEPTOR 62; GPR62
Asterisk 606918 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 5; GOLGA5 GOLGIN 84;; RET-FUSED GENE 5; RFG5 PTC5 CHIMERIC ONCOGENE, INCLUDED
Asterisk 606919 CERAMIDE SYNTHASE 1; CERS1 LAG1, S. CEREVISIAE, HOMOLOG OF, 1; LASS1;; UPSTREAM OF GDF1; UOG1
Asterisk 606920 CERAMIDE SYNTHASE 2; CERS2 LAG1, S. CEREVISIAE, HOMOLOG OF, 2; LASS2
Asterisk 606921 G PROTEIN-COUPLED RECEPTOR 78; GPR78
Asterisk 606922 G PROTEIN-COUPLED RECEPTOR 80; GPR80 GPR99
Asterisk 606923 HYDROXYCARBOXYLIC ACID RECEPTOR 1; HCAR1 HCA1;; G PROTEIN-COUPLED RECEPTOR 81; GPR81;; T-CELL ACTIVATION G PROTEIN-COUPLED RECEPTOR; TAGPCR
Caret 606924 MOVED TO 300748
Asterisk 606925 G PROTEIN-COUPLED RECEPTOR 103; GPR103 SP9155;; AQ27
Asterisk 606926 LYSOPHOSPHATIDIC ACID RECEPTOR 5; LPAR5 LPA5;; G PROTEIN-COUPLED RECEPTOR 92; GPR92;; GPR93
Asterisk 606927 TRACE AMINE-ASSOCIATED RECEPTOR 8; TAAR8 TRACE AMINE RECEPTOR 5; TRAR5;; TA5;; G PROTEIN-COUPLED RECEPTOR 102; GPR102
Percent 606928 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 3; BMND3 BONE MINERAL DENSITY, LOW, SUSCEPTIBILITY TO
Asterisk 606929 THO COMPLEX, SUBUNIT 3; THOC3 TEX1, YEAST, HOMOLOG OF; TEX1
Asterisk 606930 THO COMPLEX, SUBUNIT 1; THOC1 NUCLEAR MATRIX PROTEIN p84;; p84N5;; HPR1, YEAST, HOMOLOG OF; HPR1
Caret 606931 MOVED TO 601501
Asterisk 606932 VACUOLAR PROTEIN SORTING 29, YEAST, HOMOLOG OF; VPS29 RETROMER PROTEIN;; PEP11;; DC7;; DC15
Asterisk 606933 TYROSINASE; TYR
Asterisk 606934 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 1; NDUFAF1 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 1;; NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 1;; COMPLEX I INTERMEDIATE-ASSOCIATED PROTEIN 30; CIA30;; CGI65
Asterisk 606935 RNA-BINDING MOTIF PROTEIN 17; RBM17 SPLICING FACTOR, 45-KD; SPF45
Asterisk 606936 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 4; TRPM4
Caret 606937 MOVED TO 251300
Asterisk 606938 UROPORPHYRINOGEN III SYNTHASE; UROS UROIIIS
Asterisk 606939 ATPase, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM 2; ATP6V1B2 ATP6B2;; VACUOLAR PROTON PUMP B ISOFORM 2
Asterisk 606940 ZINC FINGER HOMEOBOX 4; ZFHX4 ZFH4
Asterisk 606941 ALG9, S. CEREVISIAE, HOMOLOG OF; ALG9 DISRUPTED IN BIPOLAR DISORDER 1; DIBD1
Asterisk 606942 COATOMER PROTEIN COMPLEX, SUBUNIT EPSILON; COPE EPSILON COAT PROTEIN
Number Sign 606943 USHER SYNDROME, TYPE IG; USH1G
Asterisk 606944 ERBB2 INTERACTING PROTEIN; ERBB2IP DENSIN-180-LIKE PROTEIN; ERBIN
Asterisk 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
Asterisk 606946 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 2; ANAPC2 APC2;; KIAA1406
Asterisk 606947 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 4; ANAPC4 APC4
Asterisk 606948 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 5; ANAPC5 APC5
Asterisk 606949 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 7; ANAPC7 APC7
Asterisk 606950 THYROTROPIN-RELEASING HORMONE-DEGRADING ECTOENZYME; TRHDE TRH-DEGRADING ECTOENZYME
Asterisk 606951 INTERFERON-INDUCED HELICASE C DOMAIN-CONTAINING PROTEIN 1; IFIH1 MELANOMA DIFFERENTIATION-ASSOCIATED GENE 5; MDA5
Number Sign 606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B OCULOCUTANEOUS ALBINISM, TYPE IB;; ALBINISM, YELLOW MUTANT TYPE;; YELLOW ALBINISM ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE, INCLUDED;; OCA1-TS, INCLUDED
Asterisk 606953 UDP-GALACTOSE-4-EPIMERASE; GALE GALACTOSE EPIMERASE
Asterisk 606954 ZINC FINGER PROTEIN 253; ZNF253
Caret 606955 MOVED TO 194555
Asterisk 606956 ZINC FINGER PROTEIN 256; ZNF256
Asterisk 606957 ZINC FINGER PROTEIN 257; ZNF257
Asterisk 606958 MEMBRANE PROTEIN, PALMITOYLATED 5; MPP5 PROTEIN ASSOCIATED WITH LIN7 1, MOUSE, HOMOLOG OF; PALS1
Asterisk 606959 MEMBRANE PROTEIN, PALMITOYLATED 6; MPP6 VELI-ASSOCIATED MAGUK 1; VAM1;; PROTEIN ASSOCIATED WITH LIN7 2, MOUSE, HOMOLOG OF; PALS2
Percent 606960 INSULINOMA TUMOR SUPPRESSOR GENE LOCUS
Asterisk 606961 WW DOMAIN-BINDING PROTEIN 1; WBP1
Asterisk 606962 WW DOMAIN-BINDING PROTEIN 2; WBP2
Percent 606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET, INCLUDED;; COPD, SEVERE EARLY-ONSET, INCLUDED;; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN, INCLUDED
Asterisk 606964 SERINE/THREONINE PROTEIN KINASE 38; STK38 NUCLEAR DBF2-RELATED PROTEIN; NDR;; NDR1
Asterisk 606965 FAS-ACTIVATED SERINE/THREONINE KINASE; FASTK FAST
Number Sign 606966 NEPHRONOPHTHISIS 4; NPHP4 NEPHRONOPHTHISIS 4, JUVENILE
Asterisk 606967 LECITHIN:CHOLESTEROL ACYLTRANSFERASE; LCAT
Asterisk 606968 EUKARYOTIC ELONGATION FACTOR 2 KINASE; EEF2K CALMODULIN-DEPENDENT PROTEIN KINASE III
Asterisk 606969 GEM-ASSOCIATED PROTEIN 4; GEMIN4
Caret 606970 MOVED TO 600669
Caret 606971 MOVED TO 607631
Percent 606972 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 2; EIG2 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 14
Asterisk 606973 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 1; COG1 LOW DENSITY LIPOPROTEIN RECEPTOR DEFECT B-COMPLEMENTING PROTEIN; LDLB;; KIAA1381
Asterisk 606974 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 2; COG2 LOW DENSITY LIPOPROTEIN RECEPTOR DEFECT C-COMPLEMENTING PROTEIN; LDLC
Asterisk 606975 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 3; COG3 SEC34, S. CEREVISIAE, HOMOLOG OF; SEC34
Asterisk 606976 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 4; COG4 COD1, S. CEREVISIAE, HOMOLOG OF; COD1
Asterisk 606977 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 6; COG6 KIAA1134;; COD2, S. CEREVISIAE, HOMOLOG OF; COD2
Asterisk 606978 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 7; COG7
Asterisk 606979 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 8; COG8 DOR1, S. CEREVISIAE, HOMOLOG OF; DOR1
Asterisk 606980 COENZYME Q8A; COQ8A COQ8, S. CEREVISIAE, HOMOLOG OF; COQ8;; AARF DOMAIN-CONTAINING KINASE 3; ADCK3;; CHAPERONE-ACTIVITY OF BC1 COMPLEX-LIKE; CABC1
Asterisk 606981 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-2; GNG2 G PROTEIN GAMMA-2 SUBUNIT;; GUANINE NUCLEOTIDE-BINDING PROTEIN G(I)/G(O)
Asterisk 606982 GERANYLGERANYL DIPHOSPHATE SYNTHASE 1; GGPS1 GGPPS; GGPPS1
Asterisk 606983 DIACYLGLYCEROL O-ACYLTRANSFERASE 2; DGAT2 ACYL-CoA:DIACYLGLYCEROL ACYLTRANSFERASE 2
Percent 606984 HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 2 FHHA2
Asterisk 606985 ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 4; ELP4 ELONGATION PROTEIN 4, S. CEREVISIAE, HOMOLOG OF;; PAX6 NEIGHBOR GENE; PAX6NEB CIS-REGULATORY ELEMENT SIMO, INCLUDED; SIMO, INCLUDED
Caret 606986 MOVED TO 600716
Asterisk 606987 G PROTEIN-COUPLED RECEPTOR KINASE 7; GRK7 GPRK7
Asterisk 606988 CALCINEURIN B HOMOLOGOUS PROTEIN CHP;; CALCIUM-BINDING PROTEIN P22
Asterisk 606989 MYELOPEROXIDASE; MPO
Asterisk 606990 COATOMER PROTEIN COMPLEX, SUBUNIT BETA-2; COPB2 BETA-2 COAT PROTEIN;; BETA-PRIME COP
Asterisk 606991 INOSITOL HEXAPHOSPHATE KINASE 1; IHPK1 IP6K1;; KIAA0263
Asterisk 606992 INOSITOL HEXAPHOSPHATE KINASE 2; IHPK2 IP6K2
Asterisk 606993 INOSITOL HEXAPHOSPHATE KINASE 3; IHPK3 INSP6K3; IP6K3
Asterisk 606994 TYROSINE KINASE, NONRECEPTOR, 2; TNK2 ACTIVATED p21CDC42 KINASE; ACK; ACK1
Percent 606995 SENIOR-LOKEN SYNDROME 3; SLSN3
Number Sign 606996 SENIOR-LOKEN SYNDROME 4; SLSN4
Asterisk 606997 NUCLEAR DNA-BINDING PROTEIN C1D C1D;; SMALL UNIQUE NUCLEAR RECEPTOR COREPRESSOR; SUNCOR
Asterisk 606998 FLOTILLIN 1; FLOT1
Asterisk 606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT GALT/IL11RA SPLICED READ-THROUGH TRANSCRIPT, INCLUDED
Asterisk 607000 MEDIATOR COMPLEX SUBUNIT 24; MED24 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 4; THRAP4;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 100-KD; TRAP100;; KIAA0130
Asterisk 607001 EUCHROMATIC HISTONE METHYLTRANSFERASE 1; EHMT1 EUHMTASE1;; G9A-LIKE PROTEIN; GLP
Asterisk 607002 PROKINETICIN 2; PROK2 PK2;; BV8
Asterisk 607003 THYMIC STROMAL LYMPHOPOIETIN; TSLP
Percent 607004 BRACHYDACTYLY, TYPE A1, B; BDA1B
Asterisk 607005 GEM-ASSOCIATED PROTEIN 5 GEMIN5
Asterisk 607006 GEM-ASSOCIATED PROTEIN 6; GEMIN6
Asterisk 607007 SNAP-ASSOCIATED PROTEIN; SNAPIN SNARE-ASSOCIATED PROTEIN SNAPIN; SNAPAP;; BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 7; BLOC1S7;; BLOC1, SUBUNIT 7; BLOS7
Asterisk 607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE; MCAD; MCADH
Asterisk 607009 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 6; TRPM6 CHANNEL KINASE 2; CHAK2;; MELASTATIN-RELATED TRP CATION CHANNEL 6
Asterisk 607010 DECAPPING ENZYME 1, S. CEREVISIAE, HOMOLOG OF, A; DCP1A DCP1, S. CEREVISIAE, HOMOLOG OF, A;; SMAD4-INTERACTING TRANSCRIPTION FACTOR; SMIF
Asterisk 607011 UBIQUITIN-SPECIFIC PROTEASE 17; USP17
Asterisk 607012 B-DOUBLE PRIME 1, SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR IIIB; BDP1 TRANSCRIPTION FACTOR-LIKE NUCLEAR REGULATOR; TFNR;; KIAA1689
Asterisk 607013 BRF2 SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR; BRF2 BRFU;; TRANSCRIPTION FACTOR IIB-RELATED FACTOR; TFIIIB50
Number Sign 607014 HURLER SYNDROME MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H
Number Sign 607015 HURLER-SCHEIE SYNDROME MUCOPOLYSACCHARIDOSIS TYPE IH/S; MPS1-HS
Number Sign 607016 SCHEIE SYNDROME MUCOPOLYSACCHARIDOSIS TYPE IS; MPS1-S;; MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY;; MPS V, FORMERLY; MPS5, FORMERLY
Percent 607017 DEAFNESS, AUTOSOMAL DOMINANT 21; DFNA21
Asterisk 607018 ADHESION G PROTEIN-COUPLED RECEPTOR L2; ADGRL2 LATROPHILIN 2; LPHN2;; LATROPHILIN HOMOLOG 1; LPHH1;; CALCIUM-INDEPENDENT ALPHA-LATROTOXIN RECEPTOR 2; CIRL2; CL2;; LECTOMEDIN 1;; KIAA0786
Asterisk 607019 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 3; RASSF3
Asterisk 607020 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 5; RASSF5 NORE1, MOUSE, HOMOLOG OF; NORE1 REGULATOR FOR CELL ADHESION AND POLARIZATION ENRICHED IN LYMPHOID TISSUE, INCLUDED; RAPL, INCLUDED
Asterisk 607021 SEZ6-LIKE PROTEIN; SEZ6L SEZ6L1;; BRAIN-SPECIFIC RECEPTOR-LIKE PROTEIN B; BSRPB
Asterisk 607022 CCCTC-BINDING FACTOR-LIKE PROTEIN; CTCFL BROTHER OF THE REGULATOR OF IMPRINTED SITES; BORIS
Asterisk 607023 POLO-LIKE KINASE 2; PLK2 SERUM-INDUCIBLE KINASE; SNK
Asterisk 607024 DEBRANCHING ENZYME 1, S. CEREVISIAE, HOMOLOG OF; DBR1
Asterisk 607025 MATERNAL EMBRYONIC LEUCINE ZIPPER KINASE; MELK KIAA0175;; HPK38
Asterisk 607026 NEURON NAVIGATOR 2; NAV2 RETINOIC ACID-INDUCIBLE GENE IN NEUROBLASTOMA 1; RAINB1;; PORE MEMBRANE- AND/OR FILAMENT-INTERACTING-LIKE PROTEIN 2; POMFIL2;; UNC53, C. ELEGANS, HOMOLOG OF, 2; UNC53H2;; KIAA1419
Asterisk 607027 ATPase, H+ TRANSPORTING, LYSOSOMAL, 70-KD, VI SUBUNIT A; ATP6V1A ATP6V1A1;; V-ATPase A SUBUNIT 1;; VACUOLAR PROTON PUMP, ALPHA SUBUNIT 1;; VA68 HO68, INCLUDED
Asterisk 607028 ATPase, H+ TRANSPORTING, LYSOSOMAL, 38-KD, V0 SUBUNIT D, ISOFORM 1; ATP6V0D1 VACUOLAR PROTON PUMP, V0 SUBUNIT D, ISOFORM 1;; V-ATPase, SUBUNIT D
Asterisk 607029 VESICLE-ASSOCIATED MEMBRANE PROTEIN 5; VAMP5 MYOBREVIN
Asterisk 607030 GRANCALCIN; GCA
Asterisk 607031 LIPOIC ACID SYNTHASE; LIAS
Asterisk 607032 SMG1, C. ELEGANS, HOMOLOG OF; SMG1 PI3-KINASE-RELATED KINASE SMG1;; LAMBDA/IOTA PROTEIN KINASE C-INTERACTING PROTEIN; LIP;; KIAA0421
Asterisk 607033 TRANSCRIPTION FACTOR B1, MITOCHONDRIAL; TFB1M MITOCHONDRIAL 12S rRNA DIMETHYLASE 1;; DIMETHYLADENOSINE TRANSFERASE 1, MITOCHONDRIAL;; CGI75;; mtTFB1
Caret 607034 MOVED TO 135700
Asterisk 607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU SUFUH SUFUXL, INCLUDED
Asterisk 607036 ISOVALERYL-CoA DEHYDROGENASE; IVD
Asterisk 607037 ENOYL-CoA HYDRATASE/3-HYDROXYACYL CoA DEHYDROGENASE; EHHADH L-BIFUNCTIONAL PROTEIN, PEROXISOMAL; LBFP; LBP
Asterisk 607038 OTOANCORIN; OTOA
Number Sign 607039 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22
Asterisk 607040 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8
Asterisk 607041 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 12; ABCC12 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 9; MRP9
Asterisk 607042 CLN3 GENE; CLN3 BATTENIN
Asterisk 607043 TRAF3-INTERACTING PROTEIN 2; TRAF3IP2 CHROMOSOME 6 OPEN READING FRAME 5; C6ORF5;; NUCLEAR FACTOR KAPPA-B ACTIVATOR 1; ACT1;; CONNECTION TO I-KAPPA-B KINASE AND STRESS-ACTIVATED PROTEIN KINASE; CIKS;; CHROMOSOME 6 OPEN READING FRAME 4; C6ORF4;; CHROMOSOME 6 OPEN READING FRAME 6; C6ORF6
NULL 607044 T-BOX 24 TBX24
Asterisk 607045 RHABDOMYOSARCOMA 2-ASSOCIATED TRANSCRIPT; RMST NONCODING RNA IN RHABDOMYOSARCOMA; NCRMS;; NONCODING RNA 54; NCRNA00054
Asterisk 607046 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 22, YEAST, HOMOLOG OF; TOMM22 TOM22
Asterisk 607047 ATAXIN 3; ATXN3 AT3;; MJD GENE; MJD1;; SCA3 GENE
Asterisk 607048 START DOMAIN-CONTAINING PROTEIN 3; STARD3 METASTATIC LYMPH NODE 64; MLN64
Asterisk 607049 START DOMAIN-CONTAINING PROTEIN 4; STARD4
Asterisk 607050 START DOMAIN-CONTAINING PROTEIN 5; STARD5
Asterisk 607051 START DOMAIN-CONTAINING PROTEIN 6; STARD6
Asterisk 607052 TUMOR SUPPRESSOR CANDIDATE 2; TUSC2 FUS1
Percent 607053 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2; HDLCQ2
Asterisk 607054 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 3; PHLDA3 TDAG51/IPL HOMOLOG 1; TIH1
Asterisk 607055 TRANSCRIPTION FACTOR B2, MITOCHONDRIAL; TFB2M MITOCHONDRIAL 12S rRNA DIMETHYLASE 2;; DIMETHYLADENOSINE TRANSFERASE 2, MITOCHONDRIAL;; mtTFB2
Asterisk 607056 INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 2; IMPG2 SPACRCAN;; IPM200
Asterisk 607057 UBIQUITIN-SPECIFIC PROTEASE 18; USP18 UBIQUITIN-SPECIFIC PROTEASE, 43-KD; UBP43;; INTERFERON-STIMULATED GENE, 43-KD; ISG43
Asterisk 607058 GAP JUNCTION PROTEIN, DELTA-2; GJD2 GAP JUNCTION PROTEIN, 36-KD;; CONNEXIN 36; CX36;; GAP JUNCTION PROTEIN, ALPHA-9, FORMERLY; GJA9, FORMERLY
Asterisk 607059 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 4; SLC39A4 ZIP4
Number Sign 607060 PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8
Asterisk 607061 PROSTAGLANDIN E SYNTHASE 3; PTGES3 UNACTIVE PROGESTERONE RECEPTOR, 23-KD; P23;; PROSTAGLANDIN E SYNTHASE, CYTOSOLIC; CPGES
Asterisk 607062 FK506-BINDING PROTEIN 7; FKBP7 FKBP23
Asterisk 607063 FK506-BINDING PROTEIN 10; FKBP10 FKBP65
Asterisk 607064 PROCOLLAGEN C-ENDOPEPTIDASE ENHANCER 2; PCOLCE2
Asterisk 607065 GLUTAMINYL-PEPTIDE CYCLOTRANSFERASE; QPCT GLUTAMINYL CYCLASE; QC
Asterisk 607066 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 3; TRPV3 VANILLOID RECEPTOR-LIKE PROTEIN 3; VRL3
Asterisk 607067 SAITOHIN STH
Asterisk 607068 CYTOCHROME b561 DOMAIN-CONTAINING PROTEIN 2; CYB561D2 101F6
Asterisk 607069 PL6 GENE PL6
Asterisk 607070 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 10; ZMYND10 BLU
Asterisk 607071 HYALURONOGLUCOSAMINIDASE 1; HYAL1 HYALURONIDASE 1
Asterisk 607072 NPR2-LIKE PROTEIN, GATOR1 COMPLEX SUBUNIT; NPRL2 NPR2, S. CEREVISIAE, HOMOLOG OF; NPR2;; NPR2L;; TUMOR SUPPRESSOR CANDIDATE 4; TUSC4
Asterisk 607073 FUS2 GENE FUS2
Asterisk 607074 PROTEIN KINASE D2; PRKD2 PKD2
Asterisk 607075 PDGFA-ASSOCIATED PROTEIN 1; PDAP1 PAP1; PAP
Asterisk 607076 PROTEASE INHIBITOR 15; PI15 P25TI
Asterisk 607077 PROTEIN KINASE C, NU; PRKCN PKC-NU
Number Sign 607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5 MULTIPLE EPIPHYSEAL DYSPLASIA, MATN3-RELATED;; MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY; BHMED
Asterisk 607079 RHESUS BLOOD GROUP, B GLYCOPROTEIN; RHBG
Number Sign 607080 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY
Asterisk 607081 TAP-BINDING PROTEIN-LIKE; TAPBPL TAP-BINDING PROTEIN-RELATED PROTEIN; TAPBPR;; TAPBP-RELATED PROTEIN;; TAPASIN-RELATED PROTEIN
Asterisk 607082 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 2; CACNA2D2 KIAA0558
Asterisk 607083 NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 3; NSD3 WHSC1L1 GENE; WHSC1L1 NSD3/NUP98 FUSION GENE, INCLUDED
Number Sign 607084 DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31 WHIRLER, MOUSE, HOMOLOG OF
Percent 607085 MYASTHENIA GRAVIS WITH THYMUS HYPERPLASIA MYAS1
Percent 607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1 FAA1;; ANNULOAORTIC ECTASIA;; AORTIC DISSECTION, FAMILIAL;; AORTIC ANEURYSM, FAMILIAL THORACIC;; ANEURYSM, THORACIC AORTIC ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA, INCLUDED
Percent 607087 AORTIC ANEURYSM, FAMILIAL THORACIC 2; AAT2 FAA2
Percent 607088 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3; DSMA3 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IV; HMN4;; DHMN4;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IV;; HMN IV;; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE III; HMN3;; DHMN3;; HMN III
Asterisk 607089 CYCLIN D-TYPE-BINDING PROTEIN 1; CCNDBP1 GRAP2 CYCLIN-D-INTERACTING PROTEIN; GCIP
Asterisk 607090 SYF2, S. CEREVISIAE, HOMOLOG OF; SYF2 GCIP-INTERACTING PROTEIN P29; P29
Number Sign 607091 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D CDG IId; CDGIId
Asterisk 607092 SPHINGOSINE KINASE 2; SPHK2
Asterisk 607093 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
Asterisk 607094 SUPPRESSOR OF CYTOKINE SIGNALING 5; SOCS5 CYTOKINE-INDUCIBLE SH2 PROTEIN 6; CIS6;; KIAA0671
Number Sign 607095 ANAUXETIC DYSPLASIA 1; ANXD1 ANAUXETIC DYSPLASIA; ANXD; SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE;; SPONDYLOMETAEPIPHYSEAL DYSPLASIA, MENGER TYPE
Asterisk 607096 SOLUTE CARRIER FAMILY 22 (URATE TRANSPORTER), MEMBER 12; SLC22A12 ORGANIC ANION TRANSPORTER 4-LIKE; OAT4L;; URATE TRANSPORTER 1; URAT1
Asterisk 607097 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER 11 SLC22A11;; ORGANIC ANION TRANSPORTER 4; OAT4
Asterisk 607098 ENOLASE ALPHA, LUNG-SPECIFIC; ENO1B HUMAN LUNG ENOLASE; HLE1
Asterisk 607099 MBD2-INTERACTING ZINC FINGER PROTEIN; MIZF
Asterisk 607100 NEPHROCYSTIN 1; NPHP1 NPH1
Number Sign 607101 DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30
Asterisk 607102 WT1 GENE; WT1 WT1/EWS FUSION GENE, INCLUDED
Asterisk 607103 ARGINYLTRANSFERASE 1; ATE1
Asterisk 607104 TANKYRASE 1-BINDING PROTEIN 1; TNKS1BP1 TANKYRASE 1-BINDING PROTEIN, 182-KD;; TAB182;; KIAA1741
Asterisk 607105 NADPH OXIDASE 3; NOX3 GP91-3
Asterisk 607106 MINOR HISTOCOMPATIBILITY 13; HM13 HISTOCOMPATIBILITY 13;; SIGNAL PEPTIDE PEPTIDASE; SPP;; INTRAMEMBRANE PROTEASE 1; IMP1
Percent 607107 NASOPHARYNGEAL CARCINOMA NPCA;; NPC;; NASOPHARYNGEAL CANCER NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 1, INCLUDED; NPCA1, INCLUDED
Asterisk 607108 PAIRED BOX GENE 6; PAX6
Asterisk 607109 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3A; APOBEC3A PHORBOLIN 1
Asterisk 607110 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3B; APOBEC3B PHORBOLIN 1-RELATED PROTEIN
Asterisk 607111 SPARTIN; SPART SPG20;; KIAA0610
Asterisk 607112 F-BOX ONLY PROTEIN 2; FBXO2 FBX2;; FBG1;; NEURAL F-BOX PROTEIN, 42-KD, RAT, HOMOLOG OF; NFB42
Asterisk 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G; APOBEC3G PHORBOLIN-LIKE PROTEIN MDS019; MDS019;; CEM15;; dJ494G10.1;; FLJ12740;; bK150C2.7
Asterisk 607114 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 33; ADAM33
Number Sign 607115 CINCA SYNDROME; CINCA CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME;; MULTISYSTEM INFLAMMATORY DISEASE, NEONATAL-ONSET; NOMID;; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3; CAPS3
Percent 607116 ALZHEIMER DISEASE 8 ALZHEIMER DISEASE, FAMILIAL, 8;; AD8
Asterisk 607117 MCPH1 GENE; MCPH1 MICROCEPHALIN;; BRCT-REPEAT INHIBITOR OF TERT EXPRESSION 1; BRIT1
Asterisk 607118 MITOCHONDRIAL RIBOSOMAL PROTEIN L3; MRPL3 MRL3
Asterisk 607119 DOUBLE RING FINGER PROTEIN DORFIN
Asterisk 607120 PHOSPHOLIPASE C, BETA-1; PLCB1 KIAA0581 PLCB1A, INCLUDED;; PLCB1B, INCLUDED
Caret 607121 MOVED TO 605569
Asterisk 607122 PROKINETICIN RECEPTOR 1; PROKR1 PKR1;; G PROTEIN-COUPLED RECEPTOR 73; GPR73
Asterisk 607123 PROKINETICIN RECEPTOR 2; PROKR2 PKR2;; G PROTEIN-COUPLED RECEPTOR 73-LIKE 1; GPR73L1
Asterisk 607124 PHOSPHOLIPID PHOSPHATASE 1; PLPP1 PHOSPHATIDIC ACID PHOSPHATASE TYPE 2A; PPAP2A; PAP2A
Asterisk 607125 PHOSPHOLIPID PHOSPHATASE 3; PLPP3 PHOSPHATIDIC ACID PHOSPHATASE TYPE 2B; PPAP2B; PAP2B
Asterisk 607126 PHOSPHOLIPID PHOSPHATASE 2; PLPP2 PHOSPHATIDIC ACID PHOSPHATASE TYPE 2C; PPAP2C; PAP2C
Asterisk 607127 ELKS/RAB6-INTERACTING/CAST FAMILY, MEMBER 1; ERC1 RAB6-INTERACTING PROTEIN 2; RAB6IP2;; ELKS GENE; ELKS;; KIAA1081 ELKS/RET FUSION GENE, INCLUDED
Asterisk 607128 TRF1-INTERACTING ANKYRIN-RELATED ADP-RIBOSE POLYMERASE 2; TNKS2 TANKYRASE 2; TANK2;; TNKL
Asterisk 607129 MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING, 1; MICAL1 MOLECULE INTERACTING WITH CASL; MICAL;; NEDD9-INTERACTING PROTEIN WITH CALPONIN HOMOLOGY AND LIM DOMAINS; NICAL
Asterisk 607130 REGULATORY ASSOCIATED PROTEIN OF MTOR; RPTOR RAPTOR;; KIAA1303
Number Sign 607131 AL-GAZALI-BAKALINOVA SYNDROME; AGBK MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES; MMEDF
NULL 607132 LARYNGEAL ATRESIA, ENCEPHALOCELE, AND LIMB DEFORMITIES LEL
Caret 607133 MOVED TO 601547
Percent 607134 SPECIFIC LANGUAGE IMPAIRMENT 3; SLI3 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13
Percent 607135 CREATININE CLEARANCE QUANTITATIVE TRAIT LOCUS CRCL
Number Sign 607136 SPINOCEREBELLAR ATAXIA 17; SCA17 HUNTINGTON DISEASE-LIKE 4; HDL4
Asterisk 607137 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D-LIKE PROTEIN; HNRNPDL HNRPDL;; HNRPD-LIKE PROTEIN;; AU-RICH ELEMENT RNA-BINDING FACTOR;; JKTBP
Asterisk 607138 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 4; CREB3L4 cAMP RESPONSE ELEMENT-BINDING PROTEIN 4; CREB4;; ANDROGEN-INDUCED BASIC LEUCINE ZIPPER PROTEIN; AIBZIP
Asterisk 607139 FANCA GENE; FANCA FACA; FAA
Number Sign 607140 ANGIOID STREAKS
Asterisk 607141 GLIOMA PATHOGENESIS-RELATED PROTEIN 2; GLIPR2 GOLGI-ASSOCIATED PR1 PROTEIN; GAPR1;; CHROMOSOME 9 OPEN READING FRAME 19; C9ORF19
Caret 607142 MOVED TO 602617
Number Sign 607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G CDG Ig; CDGIg
Asterisk 607144 ALG12, S. CEREVISIAE, HOMOLOG OF; ALG12 ASPARAGINE-LINKED GLYCOSYLATION 12, HOMOLOG OF;; DOLICHYL-P-MANNOSE:MAN-7-GlcNAc-2-PP-DOLICHYL-ALPHA-6-MANNOSYLTRANSFERASE
Asterisk 607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1 DYSBINDIN;; SANDY, MOUSE, HOMOLOG OF; SDY;; HPS7 GENE; HPS7;; BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 8; BLOC1S8;; BLOC1, SUBUNIT 8; BLOS8
Asterisk 607146 PDZ DOMAIN-CONTAINING 3; PDZD3 INTESTINE- AND KIDNEY-ENRICHED PDZ PROTEIN; IKEPP
Asterisk 607147 NECTIN 3; NECTIN3 POLIOVIRUS RECEPTOR-LIKE 3; PVRL3;; POLIOVIRUS RECEPTOR-RELATED 3; PVRR3; PRR3
Caret 607148 MOVED TO 300417
Asterisk 607149 RNA EXONUCLEASE 2, S. CEREVISIAE, HOMOLOG OF; REXO2 REX2, S. CEREVISIAE, HOMOLOG OF; REX2;; SMALL FRAGMENT NUCLEASE; SFN
Asterisk 607150 FIFTH EWING SARCOMA VARIANT; FEV PET1 FEV/EWS FUSION GENE, INCLUDED
Number Sign 607151 MOYAMOYA DISEASE 2; MYMY2
Percent 607152 SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19
Asterisk 607153 INTEGRIN, BETA-1, BINDING PROTEIN OF, 1; ITGB1BP1 INTEGRIN CYTOPLASMIC DOMAIN-ASSOCIATED PROTEIN 1; ICAP1 ICAP1A, INCLUDED;; ICAP1B, INCLUDED
Number Sign 607154 ALLERGIC RHINITIS ALRH
Number Sign 607155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I;; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
Asterisk 607156 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 6; ST3GAL6 ALPHA-2,3-SIALYLTRANSFERASE VI; ST3GALVI
Asterisk 607157 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 11; SIGLEC11
Asterisk 607158 VENT HOMEOBOX; VENTX VENT-LIKE HOMEOBOX 2; VENTX2;; HPX42B
Asterisk 607159 ZINC FINGER MIZ-DOMAIN CONTAINING 1; ZMIZ1 RETINOIC ACID-INDUCED GENE 17; RAI17;; KIAA1224;; ZIMP10
Asterisk 607160 ATPase, H+ TRANSPORTING, LYSOSOMAL, 14-KD, V1 SUBUNIT F; ATP6V1F VACUOLAR ATPase, 14-KD SUBUNIT
NULL 607161 MULTIPLE CONGENITAL ANOMALIES SYNDROME WITH CLOVERLEAF SKULL
Asterisk 607162 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 5; ST8SIA5 ALPHA-2,8-SIALYLTRANSFERASE V;; ST8SIA V;; SIALYLTRANSFERASE 8E; SIAT8E
Asterisk 607163 LYSYL OXIDASE-LIKE 3; LOXL3
Asterisk 607164 LADY BIRD-LIKE HOMEOBOX 2; LBX2 LADY BIRD LATE, DROSOPHILA, HOMOLOG OF, 2
Asterisk 607165 SERINE INCORPORATOR 3; SERINC3 TUMOR DIFFERENTIALLY EXPRESSED 1; TDE1;; TMS1
Asterisk 607166 TESTIS-SPECIFIC PROTEIN 10; TSGA10
Asterisk 607167 DYNEIN, LIGHT CHAIN, ROADBLOCK TYPE, 1; DYNLRB1 DYNEIN, CYTOPLASMIC, LIGHT CHAIN 2A; DNCL2A; DNLC2A
Asterisk 607168 DYNEIN, LIGHT CHAIN, ROADBLOCK TYPE, 2; DYNLRB2 DYNEIN, LIGHT CHAIN 2B; DNLC2B
Asterisk 607169 PROTEASE, SERINE, 16; PRSS16 THYMUS-SPECIFIC SERINE PROTEASE; TSSP
Asterisk 607170 CYSTEINE-RICH PROTEIN WITH EGF-LIKE DOMAINS 1; CRELD1 CIRRIN
Asterisk 607171 CYSTEINE-RICH PROTEIN WITH EGF-LIKE DOMAINS 2 CRELD2
Asterisk 607172 SERINE/THREONINE KINASE 11-INTERACTING PROTEIN; STK11IP LKB1-INTERACTING PROTEIN 1; LIP1;; KIAA1898
Asterisk 607173 PROTEASOME 26S SUBUNIT, NON-ATPase, 14; PSMD14 PAD1, YEAST, HOMOLOG OF;; 26S PROTEASOME-ASSOCIATED PAD1 HOMOLOG; POH1
Number Sign 607174 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
Asterisk 607175 DUAL-SPECIFICITY PHOSPHATASE 16; DUSP16 MAP KINASE PHOSPHATASE 7; MKP7;; KIAA1700
Asterisk 607176 CALNEURON 1; CALN1
Asterisk 607177 IMMEDIATE-EARLY RESPONSE GENE 5; IER5
Asterisk 607178 PDZK1-INTERACTING PROTEIN 1; PDZK1IP1 MEMBRANE-ASSOCIATED PROTEIN 17; MAP17;; DD96
Asterisk 607179 RNA-BINDING MOTIF PROTEIN 12; RBM12 KIAA0765
Asterisk 607180 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 2; LRRC2
Asterisk 607181 RECEPTOR-TRANSPORTING PROTEIN 3; RTP3 TRANSMEMBRANE PROTEIN 7; TMEM7
Asterisk 607182 FYVE AND COILED-COIL DOMAIN CONTAINING 1; FYCO1
Asterisk 607183 SEC24-RELATED GENE FAMILY, MEMBER A; SEC24A
Asterisk 607184 SEC24-RELATED GENE FAMILY, MEMBER B; SEC24B
Asterisk 607185 SEC24-RELATED GENE FAMILY, MEMBER C; SEC24C KIAA0079
Asterisk 607186 SEC24-RELATED GENE FAMILY, MEMBER D; SEC24D KIAA0755
Asterisk 607187 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 1; ST3GAL1 SIALYLTRANSFERASE 4A; SIAT4A;; ST3O
Asterisk 607188 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 2; ST3GAL2 SIALYLTRANSFERASE 4B; SIAT4B
Asterisk 607189 REGULATOR OF G PROTEIN SIGNALING 8; RGS8
Asterisk 607190 REGULATOR OF G PROTEIN SIGNALING 13; RGS13
Asterisk 607191 REGULATOR OF G PROTEIN SIGNALING 17; RGS17 RGSZ2
Asterisk 607192 REGULATOR OF G PROTEIN SIGNALING 18; RGS18
Asterisk 607193 REGULATOR OF G PROTEIN SIGNALING 20; RGS20 RGSZ1 ISOFORM, INCLUDED;; RET-RGS ISOFORM, INCLUDED
Asterisk 607194 PANCREAS TRANSCRIPTION FACTOR 1, ALPHA SUBUNIT; PTF1A PTF1-p48
Caret 607195 MOVED TO 128230
Number Sign 607196 MICROCEPHALY, AMISH TYPE; MCPHA AMISH LETHAL MICROCEPHALY;; THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE); THMD3
NULL 607197 DEAFNESS, AUTOSOMAL RECESSIVE
Asterisk 607198 TYROSYL-DNA PHOSPHODIESTERASE 1; TDP1
Asterisk 607199 INTERFERON REGULATORY FACTOR 6; IRF6
Number Sign 607200 THYROID DYSHORMONOGENESIS 6; TDH6 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 6
Asterisk 607201 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN R; HNRNPR HNRPR
Percent 607202 CELIAC DISEASE, SUSCEPTIBILITY TO, 5; CELIAC5 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 5;; GSES
Asterisk 607203 SALVADOR, DROSOPHILA, HOMOLOG OF; SAV1 SAV;; WW DOMAIN-CONTAINING PROTEIN, 45-KD; WW45
Asterisk 607204 PUMILIO, DROSOPHILA, HOMOLOG OF, 1; PUM1 KIAA0099
Asterisk 607205 PUMILIO, DROSOPHILA, HOMOLOG OF, 2; PUM2 KIAA0235
Asterisk 607206 ARACHIDONATE LIPOXYGENASE 3; ALOXE3 LOX TYPE 3;; LIPOXYGENASE TYPE 3, EPIDERMAL
Asterisk 607207 STIP1 HOMOLOGOUS AND U BOX-CONTAINING PROTEIN 1; STUB1 C TERMINUS OF HSC70-INTERACTING PROTEIN; CHIP
Number Sign 607208 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6 DRAVET SYNDROME;; SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI
Asterisk 607209 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 10; CARD10 CARD-MAGUK PROTEIN 3; CARMA3;; BCL10-INTERACTING MAGUK PROTEIN 1; BIMP1
Asterisk 607210 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11 CARD-MAGUK PROTEIN 1; CARMA1;; BCL10-INTERACTING MAGUK PROTEIN 3; BIMP3
Asterisk 607211 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 14; CARD14 CARD-MAGUK PROTEIN 2; CARMA2;; BCL10-INTERACTING MAGUK PROTEIN 2; BIMP2
Asterisk 607212 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 9; CARD9
Asterisk 607213 ORIGIN RECOGNITION COMPLEX, SUBUNIT 6, S. CEREVISIAE, HOMOLOG OF; ORC6 ORC6-LIKE; ORC6L
NULL 607214 ANONYCHIA, TOTAL, WITH MICROCEPHALY
Asterisk 607215 NEPHROCYSTIN 4; NPHP4 KIAA0673;; NEPHRORETININ
Asterisk 607216 SIDEKICK, DROSOPHILA, HOMOLOG OF, 1; SDK1
Asterisk 607217 SIDEKICK, DROSOPHILA, HOMOLOG OF, 2; SDK2 KIAA1514
Asterisk 607218 INTERFERON REGULATORY FACTOR 5; IRF5
Asterisk 607219 CONTACTIN 5; CNTN5 NB2
Asterisk 607220 CONTACTIN 6; CNTN6 NB3
Percent 607221 EPILEPSY, PARTIAL, WITH PERICENTRAL SPIKES; PEPS EPPS
Asterisk 607222 F-BOX ONLY PROTEIN 18; FBXO18 F-BOX DNA HELICASE 1; FBH1
Asterisk 607223 SPARC-RELATED MODULAR CALCIUM-BINDING PROTEIN 2; SMOC2 SECRETED MODULAR CALCIUM-BINDING PROTEIN 2;; SMOOTH MUSCLE-ASSOCIATED PROTEIN 2; SMAP2
Asterisk 607224 ORAL CANCER OVEREXPRESSED GENE 1; ORAOV1 TUMOR AMPLIFIED AND OVEREXPRESSED SEQUENCE 1; TAOS1
Number Sign 607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP
Asterisk 607226 HISTONE DEACETYLASE 11; HDAC11
Asterisk 607227 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X1; MRGPRX1 MRGX1
Asterisk 607228 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X2; MRGPRX2 MRGX2
Asterisk 607229 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X3; MRGPRX3 MRGX3
Asterisk 607230 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X4; MRGPRX4 MRGX4
Asterisk 607231 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER D; MRGPRD MRGD
Asterisk 607232 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER E; MRGPRE MRGE
Asterisk 607233 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER F; MRGPRF MRGF;; RAT THORACIC ARTERY PROTEIN, HOMOLOG OF; RTA
Asterisk 607234 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER G; MRGPRG MRGG
Asterisk 607235 MAS1 ONCOGENE-LIKE; MAS1L MRG
Number Sign 607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION HARP SYNDROME
Asterisk 607237 TRANSMEMBRANE INNER EAR-EXPRESSED GENE; TMIE
Asterisk 607238 COMM DOMAIN-CONTAINING PROTEIN 1; COMMD1 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 1;; COPPER METABOLISM GENE MURR1; MURR1
Percent 607239 DEAFNESS, AUTOSOMAL RECESSIVE 33; DFNB33
Asterisk 607240 SET DOMAIN-CONTAINING PROTEIN 8; SETD8 SET8;; PR/SET DOMAIN-CONTAINING PROTEIN 7; PR/SET7;; PR/SET07;; HISTONE H4-LYSINE 20-SPECIFIC METHYLTRANSFERASE
Asterisk 607241 CHROMOSOME 4 OPEN READING FRAME 7; C4ORF7 FOLLICULAR DENDRITIC CELL SECRETED PEPTIDE; FDCSP
Asterisk 607242 ADAPTOR-RELATED PROTEIN COMPLEX 2, ALPHA-2 SUBUNIT; AP2A2 KIAA0899
Asterisk 607243 ADAPTOR-RELATED PROTEIN COMPLEX 4, SIGMA-1 SUBUNIT; AP4S1
Asterisk 607244 ADAPTOR-RELATED PROTEIN COMPLEX 4, EPSILON-1 SUBUNIT; AP4E1
Asterisk 607245 ADAPTOR-RELATED PROTEIN COMPLEX 4, BETA-1 SUBUNIT; AP4B1
Asterisk 607246 ADAPTOR-RELATED PROTEIN COMPLEX 3, DELTA-1 SUBUNIT; AP3D1 ADAPTIN, DELTA;; GARNET, DROSOPHILA, HOMOLOG OF;; MOCHA, MOUSE, HOMOLOG OF
Asterisk 607247 CHONDROLECTIN; CHODL
Percent 607248 GLIOMA SUSCEPTIBILITY 4; GLM4
Asterisk 607249 CATION CHANNEL, SPERM-ASSOCIATED, 2; CATSPER2
Number Sign 607250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; SCAN1
Asterisk 607251 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 22, YEAST, HOMOLOG OF; TIMM22 TIM22
Asterisk 607252 APOLIPOPROTEIN L-II; APOL2 APOL-II
Asterisk 607253 APOLIPOPROTEIN L-III; APOL3 APOL-III
Asterisk 607254 APOLIPOPROTEIN L-IV; APOL4 APOL-IV
Asterisk 607255 APOLIPOPROTEIN L-V; APOL5 APOL-V
Asterisk 607256 APOLIPOPROTEIN L-VI; APOL6 APOL-VI
Asterisk 607257 SRY-BOX 6; SOX6
Percent 607258 HYPERCALCIURIA, ABSORPTIVE, 1 HCA1
Number Sign 607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7
Asterisk 607260 PLACENTAL PROTEIN 13-LIKE PROTEIN PPL13
Asterisk 607261 EVC2 GENE; EVC2 LIMBIN; LBN
Asterisk 607262 EPSIN 1; EPN1 EPSIN
Asterisk 607263 EPSIN 2; EPN2 KIAA1065
Asterisk 607264 EPSIN 3; EPN3
Asterisk 607265 CLATHRIN INTERACTOR 1; CLINT1 EPSIN 4; EPN4;; EPSIN-RELATED PROTEIN; EPNR;; ENTHOPROTIN;; KIAA0171
Caret 607266 MOVED TO 608048
Asterisk 607267 POLYMERASE, DNA, EPSILON-3; POLE3 POLYMERASE, DNA, EPSILON, 17-KD SUBUNIT;; CHROMATIN ACCESSIBILITY COMPLEX, 17-KD SUBUNIT; CHRAC17;; NFYB-LIKE PROTEIN 1; YBL1
Asterisk 607268 CHROMATIN ACCESSIBILITY COMPLEX, SUBUNIT 1; CHRAC1 CHROMATIN ACCESSIBILITY COMPLEX, 15-KD SUBUNIT; CHRAC15;; NFYC-LIKE PROTEIN 1; YCL1
Asterisk 607269 POLYMERASE, DNA, EPSILON-4; POLE4 POLYMERASE, DNA, EPSILON, 12-KD SUBUNIT
Asterisk 607270 KIAA0442 GENE; KIAA0442 AUTISM SUSCEPTIBILITY CANDIDATE 2; AUTS2
Number Sign 607271 CASPASE 8 DEFICIENCY CEDS;; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB; ALPS2B
Asterisk 607272 NDC80, S. CEREVISIAE, HOMOLOG OF; NDC80 KINETOCHORE-ASSOCIATED PROTEIN 2; KNTC2;; HIGHLY EXPRESSED IN CANCER; HEC;; HEC1
Asterisk 607273 FOLLICULIN; FLCN FLCL;; BHD GENE; BHD
Asterisk 607274 UBIQUITIN-SPECIFIC PROTEASE 14; USP14 tRNA-GUANINE TRANSGLYCOSYLASE, 60-KD SUBUNIT;; TGT, 60-KD SUBUNIT
Asterisk 607275 HOP HOMEOBOX; HOPX HOMEODOMAIN-ONLY PROTEIN; HOP
Number Sign 607276 RESTING HEART RATE, VARIATION IN RHR
Number Sign 607277 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 ASRT1;; AS1
Number Sign 607278 OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO; OSFD OFD;; TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM
Percent 607279 SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1; SLEH1 SYSTEMIC LUPUS ERYTHEMATOSUS, HEMOLYTIC ANEMIA-RELATED
Asterisk 607280 CONTACTIN 4; CNTN4 BIG2, RAT, HOMOLOG OF; BIG2
Asterisk 607281 LSM1 PROTEIN; LSM1 CANCER-ASSOCIATED SM-LIKE PROTEIN; CASM
Asterisk 607282 LSM2 PROTEIN; LSM2 CHROMOSOME 6 OPEN READING FRAME 28; C6ORF28
Asterisk 607283 LSM3 PROTEIN; LSM3
Asterisk 607284 LSM4 PROTEIN; LSM4
Asterisk 607285 LSM5 PROTEIN; LSM5
Asterisk 607286 LSM6 PROTEIN; LSM6
Asterisk 607287 LSM7 PROTEIN; LSM7
Asterisk 607288 LSM8 PROTEIN; LSM8
Asterisk 607289 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 5; BLOC1S5 BLOC1, SUBUNIT 5; BLOS5;; MUTED, MOUSE, HOMOLOG OF; MUTED
Asterisk 607290 SHISA FAMILY, MEMBER 5; SHISA5 SCOTIN
Asterisk 607291 ADAPTOR-RELATED PROTEIN COMPLEX 1 GAMMA SUBUNIT-BINDING PROTEIN 1; AP1GBP1 AP1 GAMMA SUBUNIT-BINDING PROTEIN 1;; SYNERGIN, GAMMA; SYNG
Asterisk 607292 SEMAPHORIN 4A; SEMA4A SEMAPHORIN B; SEMAB; SEMB
Asterisk 607293 CHLORIDE INTRACELLULAR CHANNEL 5; CLIC5
Asterisk 607294 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2; TGIF2 TGFB-INDUCED FACTOR 2
Asterisk 607295 MYOSIN XVIIIB; MYO18B
Asterisk 607296 ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 1; ATP6V1G1 ATP6G1
Asterisk 607297 NERVE INJURY-INDUCED PROTEIN 2; NINJ2 NINJURIN 2
Asterisk 607298 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-13; GNG13
Asterisk 607299 DELTA- AND NOTCH-LIKE EPIDERMAL GROWTH FACTOR-RELATED RECEPTOR; DNER DELTA- AND NOTCH-LIKE EGF-RELATED RECEPTOR
Asterisk 607300 PRECURSOR mRNA-PROCESSING FACTOR 8, S. CEREVISIAE, HOMOLOG OF; PRPF8 PRP8;; PRPC8;; U5 snRNP-SPECIFIC PROTEIN, 220-KD
Asterisk 607301 PRECURSOR mRNA-PROCESSING FACTOR 3, S. CEREVISIAE, HOMOLOG OF; PRPF3 PRP3;; HPRP3
Caret 607302 MOVED TO 116960
Asterisk 607303 MORTALITY FACTOR 4-LIKE PROTEIN 1; MORF4L1 MORF4-LIKE PROTEIN 1;; MORF-RELATED GENE 15; MRG15
Percent 607304 CATARACT 27; CTRCT27 CATARACT 27, NUCLEAR PROGRESSIVE;; CCNP
Asterisk 607305 MDS2 GENE MDS2 MDS2/ETV6 FUSION GENE, INCLUDED
Asterisk 607306 STEROID 5-ALPHA-REDUCTASE 2; SRD5A2
Asterisk 607307 FILAMIN A-INTERACTING PROTEIN 1; FILIP1 FILIP;; KIAA1275
Percent 607308 MAMMOGRAPHIC DENSITY
Asterisk 607309 ADAPTOR-RELATED PROTEIN COMPLEX 1, MU-2 SUBUNIT; AP1M2 MU-1B
Asterisk 607310 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 7; ADAM7
Asterisk 607311 PROGESTERONE RECEPTOR; PGR PR;; NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 3; NR3C3
Asterisk 607312 ZINC FINGER CCCH DOMAIN-CONTAINING ANTIVIRAL PROTEIN 1; ZC3HAV1 ZINC FINGER ANTIVIRAL PROTEIN; ZAP
Number Sign 607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1; HGPPS1 HGPPS OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS, INCLUDED
Asterisk 607314 CALCIUM-BINDING PROTEIN 2; CABP2
Asterisk 607315 CALCIUM-BINDING PROTEIN 5; CABP5 CALCIUM-BINDING PROTEIN 3; CABP3
Caret 607316 MOVED TO 607315
Percent 607317 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4 SPINOCEREBELLAR ATAXIA WITH SACCADIC INTRUSIONS; SCASI;; SPINOCEREBELLAR ATAXIA 24, FORMERLY; SCA24, FORMERLY
Asterisk 607318 LYSYL OXIDASE-LIKE 4; LOXL4 LOXC
Asterisk 607319 SCM-LIKE PROTEIN WITH 4 MBT DOMAINS 1; SFMBT1 SFMBT;; RENAL UBIQUITOUS PROTEIN 1; RU1
Asterisk 607320 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 4; RASGRP4
Asterisk 607321 ATPase, Na+/K+ TRANSPORTING, ALPHA-4 POLYPEPTIDE; ATP1A4 SODIUM-POTASSIUM-ATPase, ALPHA-4 POLYPEPTIDE;; Na,K-ATPase, ALPHA-D POLYPEPTIDE;; ATPase, Na+/K+ TRANSPORTING, ALPHA POLYPEPTIDE-LIKE 2; ATP1AL2
Caret 607322 MOVED TO 143470
Number Sign 607323 DUANE-RADIAL RAY SYNDROME; DRRS OKIHIRO SYNDROME;; DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS;; DR SYNDROME;; ACRORENOOCULAR SYNDROME
Percent 607324 POLYDACTYLY, POSTAXIAL, TYPE A3; PAPA3 POSTAXIAL POLYDACTYLY, TYPE A3
Asterisk 607325 DEDICATOR OF CYTOKINESIS 9; DOCK9 ZIZIMIN 1; ZIZ1;; KIAA1058
Number Sign 607326 SMITH-MCCORT DYSPLASIA 1; SMC1 SMC
Asterisk 607327 MUSCLEBLIND-LIKE SPLICING REGULATOR 2; MBNL2 MUSCLEBLIND-LIKE PROTEIN 2;; MUSCLEBLIND-LIKE PROTEIN-LIKE; MBLL
Asterisk 607328 HEXAMETHYLENE BIS ACETAMIDE-INDUCIBLE PROTEIN 1; HEXIM1 CARDIAC LINEAGE PROTEIN 1; CLP1;; HIS1;; MENAGE A QUATRE 1; MAQ1
Percent 607329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3 HYT3
Number Sign 607330 LATHOSTEROLOSIS STEROL C5-DESATURASE DEFICIENCY;; SC5D DEFICIENCY
Asterisk 607331 RP9 GENE; RP9 PIM1-ASSOCIATED PROTEIN, MOUSE, HOMOLOG OF; PAP1
Asterisk 607332 CHROMOSOME 5 OPEN READING FRAME 13; C5ORF13 3.1 GENE;; P311;; PTZ17;; D4S114
Asterisk 607333 STE20-RELATED KINASE ADAPTOR BETA; STRADB ILP-INTERACTING PROTEIN; ILPIP;; ALS2 CHROMOSOME REGION GENE 2; ALS2CR2
Asterisk 607334 TRAFFICKING PROTEIN, KINESIN-BINDING 2; TRAK2 GAMMA-AMINOBUTYRIC ACID RECEPTOR-INTERACTING FACTOR 1; GRIF1;; GABA-A RECEPTOR-INTERACTING FACTOR 1;; ALS2 CHROMOSOME REGION GENE 3; ALS2CR3;; OGT-INTERACTING PROTEIN, 98-KD; OIP98;; KIAA0549
Asterisk 607335 BESTROPHIN 2; BEST2 VMD2-LIKE GENE 1; VMD2L1
Asterisk 607336 BESTROPHIN 4; BEST4 VMD2-LIKE GENE 2; VMD2L2
Asterisk 607337 BESTROPHIN 3; BEST3 VMD2-LIKE GENE 3; VMD2L3
Asterisk 607338 LEPTIN RECEPTOR OVERLAPPING TRANSCRIPT-LIKE 1; LEPROTL1
Percent 607339 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1 CHDS1
Asterisk 607340 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 2; GABBR2 G PROTEIN-COUPLED RECEPTOR 51; GPR51;; GABA-B RECEPTOR, R2 SUBUNIT; GABABR2
Number Sign 607341 FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2 CORTICAL DYSPLASIA OF TAYLOR; CDT;; FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT;; FCD2 FOCAL CORTICAL DYSPLASIA, TYPE IIA, INCLUDED; FCORD2A, INCLUDED;; FCD IIA, INCLUDED;; CORTICAL DYSPLASIA OF TAYLOR WITHOUT BALLOON CELLS, INCLUDED;; CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY, INCLUDED; CDTD, INCLUDED;; FOCAL CORTICAL DYSPLASIA, TYPE IIB, INCLUDED; FCORD2B, INCLUDED;; FCD IIB, INCLUDED;; CORTICAL DYSPLASIA OF TAYLOR WITH BALLOON CELLS, INCLUDED; CDTBC, INCLUDED
Asterisk 607342 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 1; CPEB1 CPEB
Asterisk 607343 SAL-LIKE 4; SALL4 HSAL4
Asterisk 607344 TUBULIN, DELTA-1; TUBD1 TUBD
Asterisk 607345 TUBULIN, EPSILON-1; TUBE1 TUBULIN, EPSILON; TUBE
Number Sign 607346 SPINOCEREBELLAR ATAXIA 19; SCA19 SPINOCEREBELLAR ATAXIA 22; SCA22
Asterisk 607347 ALPHA KINASE 1; ALPK1 LYMPHOCYTE ALPHA KINASE; LAK;; KIAA1527
Asterisk 607348 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 5; HES5
Asterisk 607349 TALIN 2; TLN2 KIAA0320
Asterisk 607350 KINESIN FAMILY MEMBER 13B; KIF13B GUANYLATE KINASE-ASSOCIATED KINESIN; GAKIN;; KIAA0639
Asterisk 607351 RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 1; RHOBTB1 KIAA0740
Asterisk 607352 RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 2; RHOBTB2 DELETED IN BREAST CANCER 2; DBC2;; KIAA0717
Asterisk 607353 RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 3; RHOBTB3 KIAA0878
Percent 607354 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 2; IS2
Asterisk 607355 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 3; EIF2C3 ARGONAUTE 3; AGO3
Asterisk 607356 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 4; EIF2C4 ARGONAUTE 4; AGO4;; KIAA1567
Asterisk 607357 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 5; KCNQ5 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 5
Asterisk 607358 AUTOIMMUNE REGULATOR; AIRE
Asterisk 607359 CELL DIVISION CYCLE AND APOPTOSIS REGULATOR 2; CCAR2 DELETED IN BREAST CANCER 1; DBC1;; KIAA1967 GENE; KIAA1967
Asterisk 607360 LACRITIN; LACRT
Number Sign 607361 MECKEL SYNDROME, TYPE 3; MKS3 MECKEL-GRUBER SYNDROME, TYPE 3
Asterisk 607362 RGM DOMAIN FAMILY, MEMBER A; RGMA REPULSIVE GUIDANCE MOLECULE; RGM
Asterisk 607363 KINETOCHORE-ASSOCIATED PROTEIN 1; KNTC1 ROUGH DEAL, DROSOPHILA, HOMOLOG OF; ROD;; KIAA0166
Number Sign 607364 BARTTER SYNDROME, TYPE 3; BARTS3 BARTTER SYNDROME, CLASSIC BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA, INCLUDED
Asterisk 607365 LIPASE H; LIPH MEMBRANE-ASSOCIATED PHOSPHATIDIC ACID-SELECTIVE PHOSPHOLIPASE A1; MPAPLA1;; PHOSPHOLIPASE A1, PHOSPHATIDIC ACID-SELECTIVE, MEMBRANE-ASSOCIATED;; LPD LIPASE-RELATED PROTEIN; LPDLR
Asterisk 607366 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 12; KCNK12 TANDEM PORE DOMAIN HALOTHANE-INHIBITED POTASSIUM CHANNEL 2; THIK2
Asterisk 607367 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 13; KCNK13 TANDEM PORE DOMAIN HALOTHANE-INHIBITED POTASSIUM CHANNEL 1; THIK1
Asterisk 607368 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 15; KCNK15 TWIK-RELATED ACID-SENSITIVE K+ CHANNEL 5; TASK5
Asterisk 607369 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 16; KCNK16 TWIK-RELATED ALKALINE pH-ACTIVATED K+ CHANNEL 1; TALK1
Asterisk 607370 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 17; KCNK17 TWIK-RELATED ACID-SENSITIVE K+ CHANNEL 4; TASK4;; TWIK-RELATED ALKALINE pH-ACTIVATED K+ CHANNEL 2; TALK2
Number Sign 607371 DYSTONIA, JUVENILE-ONSET; DJO
Asterisk 607372 MEDIATOR COMPLEX SUBUNIT 15; MED15 PC2 GLUTAMINE/Q-RICH-ASSOCIATED PROTEIN; PCQAP;; TPA-INDUCIBLE GENE 1; TIG1;; ACTIVATOR-RECRUITED COFACTOR, 105-KD; ARC105
Percent 607373 AUTISM, SUSCEPTIBILITY TO, 8; AUTS8 AUTS2, FORMERLY
Asterisk 607374 PRKR INHIBITOR, REPRESSOR OF; PRKRIR PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-DEPENDENT INHIBITOR, REPRESSOR OF;; REPRESSOR OF THE INHIBITOR OF PROTEIN KINASE, 52-KD; P52(RIPK);; P58 REPRESSOR;; PRKRI REPRESSOR;; THAP DOMAIN-CONTAINING PROTEIN 0; THAP0
Asterisk 607375 DOT1-LIKE; DOT1L DOT1, S. CEREVISIAE, HOMOLOG OF; DOT1;; HISTONE H3 METHYLTRANSFERASE DOT1-LIKE;; KIAA1814
Asterisk 607376 DYNACTIN 2; DCTN2 DYNAMITIN;; DYNACTIN COMPLEX, 50-KD SUBUNIT; DCTN50
Asterisk 607377 LENS EPITHELIAL PROTEIN; LENEP LEP503, RAT, HOMOLOG OF; LEP503
Asterisk 607378 SERPINE1 mRNA-BINDING PROTEIN 1; SERBP1 PAI1 RNA-BINDING PROTEIN 1;; PAIRBP1
Asterisk 607379 NEUROFIBROMIN 2; NF2 MERLIN;; SCHWANNOMIN; SCH
Asterisk 607380 TNF RECEPTOR-ASSOCIATED FACTOR 3-INTERACTING PROTEIN 1; TRAF3IP1 TRAF3-INTERACTING PROTEIN 1;; MICROTUBULE-INTERACTING PROTEIN ASSOCIATED WITH TRAF3; MIPT3;; INTRAFLAGELLAR TRANSPORT PROTEIN 54, CHLAMYDOMONAS, HOMOLOG OF; IFT54
Asterisk 607381 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 50, YEAST, HOMOLOG OF; TIMM50 TIM50
Asterisk 607382 CAP-GLY DOMAIN-CONTAINING LINKER PROTEIN 3; CLIP3 CYTOPLASMIC LINKER PROTEIN 170-RELATED PROTEIN, 59-KD; CLIPR59
Asterisk 607383 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 13, YEAST, HOMOLOG OF; TIMM13 TIM13
Asterisk 607384 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 9, YEAST, HOMOLOG OF; TIMM9 TIM9
Asterisk 607385 UDP-N-ACETYLGLUCOSAMINE:ALPHA-1,3-D-MANNOSIDE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE IV GNT-IV-H
Asterisk 607386 INTRAFLAGELLAR TRANSPORT 172, CHLAMYDOMONAS, HOMOLOG OF; IFT172 SELECTIVE LIM-BINDING FACTOR, RAT, HOMOLOG OF; SLB;; KIAA1179
Asterisk 607387 DYNACTIN 3; DCTN3 DYNACTIN COMPLEX, 22-KD SUBUNIT; DCTN22
Asterisk 607388 FRACTURE CALLUS 1, RAT, HOMOLOG OF; FXC1 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 10, YEAST, HOMOLOG OF, B; TIMM10B; TIM10B
Asterisk 607389 SINGLE-STRANDED DNA-BINDING PROTEIN 2; SSBP2 SENSOR OF SINGLE-STRANDED DNA COMPLEX, SUBUNIT B2; SOSSB2;; SOSS COMPLEX, SUBUNIT B2
Asterisk 607390 SINGLE-STRANDED DNA-BINDING PROTEIN 3; SSBP3
Asterisk 607391 SINGLE-STRANDED DNA-BINDING PROTEIN 4; SSBP4
Asterisk 607392 WW DOMAIN-CONTAINING TRANSCRIPTION REGULATOR 1; WWTR1 TRANSCRIPTIONAL COACTIVATOR WITH PDZ-BINDING MOTIF; TAZ
Asterisk 607393 CELL DIVISION CYCLE PROTEIN 73, S. CEREVISIAE, HOMOLOG OF; CDC73 PARAFIBROMIN;; HYRAX, DROSOPHILA, HOMOLOG OF; HYX;; C1ORF28;; HRPT2
Asterisk 607394 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 3; POU2F3 OCTAMER-BINDING TRANSCRIPTION FACTOR 11; OCT11;; SKN1A
NULL 607395 STREPTOCOCCUS, GROUP A, SEVERITY OF INFECTION BY
Asterisk 607396 TRANSDUCER OF ERBB2, 2; TOB2 KIAA1663
Asterisk 607397 MELANOCORTIN 2 RECEPTOR; MC2R MC2 RECEPTOR;; ACTH RECEPTOR; ACTHR;; CORTICOTROPIN RECEPTOR
Number Sign 607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2 FAMILIAL GLUCOCORTICOID DEFICIENCY 2; FGD2
Asterisk 607399 MUCOLIPIN 2; MCOLN2 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, MUCOLIPIN SUBFAMILY, MEMBER 2; TRPML2
Asterisk 607400 MUCOLIPIN 3; MCOLN3 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, MUCOLIPIN SUBFAMILY, MEMBER 3; TRPML3
Asterisk 607401 INTERFERON, LAMBDA-2; IFNL2 INTERLEUKIN 28A; IL28A
Asterisk 607402 INTERFERON, LAMBDA-3; IFNL3 INTERLEUKIN 28B; IL28B
Asterisk 607403 INTERFERON, LAMBDA-1; IFNL1 INTERLEUKIN 29; IL29
Asterisk 607404 INTERFERON-LAMBDA RECEPTOR 1; IFNLR1 INTERLEUKIN 28 RECEPTOR, ALPHA; IL28RA
Asterisk 607405 TRACE AMINE-ASSOCIATED RECEPTOR 5; TAAR5 PUTATIVE NEUROTRANSMITTER RECEPTOR; PNR
Asterisk 607406 STARCH-BINDING DOMAIN-CONTAINING PROTEIN 1; STBD1 GENETHONIN 1;; GENEX3414
Asterisk 607407 EARLY B-CELL FACTOR 3; EBF3 COLLIER/OLF1/EBF TRANSCRIPTION FACTOR 3; COE3
Asterisk 607408 D-AMINO ACID OXIDASE ACTIVATOR; DAOA G72
Asterisk 607409 NEURITIN 1; NRN1 NEURITIN; NRN
Asterisk 607410 DIENCEPHALON/MESENCEPHALON HOMEOBOX 1; DMBX1 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 3; OTX3
Percent 607411 PATENT DUCTUS ARTERIOSUS 1; PDA1 PDA
Asterisk 607412 BPI FOLD-CONTAINING PROTEIN, FAMILY A, MEMBER 1; BPIFA1 PALATE, LUNG, AND NASAL EPITHELIUM CARCINOMA-ASSOCIATED PROTEIN; PLUNC;; SPLUNC1
NULL 607413 ALZHEIMER DISEASE NEURONAL THREAD PROTEIN AD7CNTP
Asterisk 607414 FEZ FAMILY ZINC FINGER PROTEIN 2; FEZF2 ZINC FINGER PROTEIN 312; ZNF312;; FOREBRAIN EMBRYONIC ZINC FINGER-LIKE; FEZL;; TOO FEW, ZEBRAFISH, HOMOLOG OF; TOF
Asterisk 607415 DAOA ANTISENSE RNA; DAOAAS G30
Asterisk 607416 CHL1, MOUSE, HOMOLOG OF; CHL1 CELL ADHESION MOLECULE L1-LIKE; CALL;; L1 CELL ADHESION MOLECULE 2; L1CAM2
Number Sign 607417 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A; MRT2A
Asterisk 607418 GRIP AND COILED-COIL DOMAINS-CONTAINING PROTEIN 1; GCC1 GOLGI COILED-COIL PROTEIN 1;; GCC PROTEIN, 88-KD; GCC88
Asterisk 607419 GEM-ASSOCIATED PROTEIN 7; GEMIN7
Asterisk 607420 GABA-A RECEPTOR-ASSOCIATED PROTEIN-LIKE PROTEIN 1; GABARAPL1 GABARAP-LIKE PROTEIN 1;; GLANDULAR EPITHELIAL CELL PROTEIN 1; GEC1;; APG8-LIKE; APG8L
Asterisk 607421 NME/NM23 FAMILY MEMBER 8; NME8 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 3; TXNDC3;; SPERM-SPECIFIC THIOREDOXIN 2; SPTRX2
Asterisk 607422 GLYCINE C-ACETYLTRANSFERASE; GCAT 2-AMINO-3-KETOBUTYRATE COENZYME A LIGASE; KBL
Asterisk 607423 PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1 ROTATED ABDOMEN, DROSOPHILA, HOMOLOG OF; RT
Asterisk 607424 GLYCINE N-ACYLTRANSFERASE; GLYAT GAT;; ACYL-CoA:GLYCINE N-ACYLTRANSFERASE; ACGNAT
Asterisk 607425 GAP JUNCTION PROTEIN, DELTA-3; GJD3 GAP JUNCTION PROTEIN, ALPHA-11; GJA11;; GAP JUNCTION PROTEIN, 31.9-KD;; CONNEXIN 31.9; CX31.9;; GAP JUNCTION PROTEIN, CHI-1, FORMERLY; GJC1, FORMERLY
Number Sign 607426 COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 CoQ10 DEFICIENCY, PRIMARY, 1;; UBIQUINONE DEFICIENCY 1;; COENZYME Q DEFICIENCY 1;; CoQ DEFICIENCY 1
Asterisk 607427 ENOLASE SUPERFAMILY MEMBER 1; ENOSF1 THYMIDYLATE SYNTHASE, ANTISENSE; RTS
Asterisk 607428 KIN OF IRRE-LIKE; KIRREL NEPHRIN-LIKE 1; NEPH1
Asterisk 607429 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1; PDSS1 DECAPRENYL DIPHOSPHATE SYNTHASE; DPS;; SOLANESYL DIPHOSPHATE SYNTHASE, MOUSE, HOMOLOG OF; SPS;; TRANS-PRENYLTRANSFERASE; TPT;; POLYPRENYL PYROPHOSPHATE SYNTHETASE;; COQ1, S. CEREVISIAE, HOMOLOG OF; COQ1
Asterisk 607430 DAZ-ASSOCIATED PROTEIN 1; DAZAP1
Asterisk 607431 DAZ-ASSOCIATED PROTEIN 2; DAZAP2 KIAA0058
Number Sign 607432 LISSENCEPHALY 1; LIS1 LISSENCEPHALY SEQUENCE, ISOLATED; ILS;; LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA, INCLUDED; SCLH, INCLUDED;; SUBCORTICAL BAND HETEROTOPIA, INCLUDED; SBH, INCLUDED
Asterisk 607433 TWINFILIN, DROSOPHILA, HOMOLOG OF, 2; TWF2 PROTEIN TYROSINE KINASE 9-LIKE; PTK9L;; A6-RELATED PROTEIN; A6RP
Asterisk 607434 GTP-BINDING PROTEIN 2; GTPBP2
Asterisk 607435 ERA G-PROTEIN-LIKE 1; ERAL1 ERAL1A ERAL1B, INCLUDED
Asterisk 607436 POLY(A) POLYMERASE, BETA; PAPOLB POLY(A) POLYMERASE, TESTIS-SPECIFIC; PAPT; TPAP
Asterisk 607437 G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER D; GPRC5D
Caret 607438 MOVED TO 138210
Asterisk 607439 PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2
Asterisk 607440 FUKUTIN; FKTN FCMD GENE; FCMD
Asterisk 607441 EPITHELIAL STROMAL INTERACTION 1; EPSTI1
Asterisk 607442 ECHINODERM MICROTUBULE ASSOCIATED PROTEIN LIKE-4; EML4 ROPP120 EML4-ALK FUSION GENE, INCLUDED
Asterisk 607443 EPIDIDYMAL SPERM BINDING PROTEIN 1; ELSPBP1
Asterisk 607444 SBDS GENE; SBDS
Asterisk 607445 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E NUCLEAR IMPORT FACTOR 1; EIF4ENIF1 EIF4E-TRANSPORTER;; 4E-T
Percent 607446 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 3; BMIQ3
Number Sign 607447 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4; BMIQ4 OBESITY, SUSCEPTIBILITY TO
Asterisk 607448 G PROTEIN-COUPLED RECEPTOR 147; GPR147 NEUROPEPTIDE FF1; NPFF1
Asterisk 607449 G PROTEIN-COUPLED RECEPTOR 74; GPR74 NEUROPEPTIDE FF2; NPFF2;; NEUROPEPTIDE G PROTEIN-COUPLED RECEPTOR; NPGPR
Number Sign 607450 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8; ARVC8
Asterisk 607451 GLUCOCORTICOID MODULATORY ELEMENT-BINDING PROTEIN 2; GMEB2 PARVOVIRUS INITIATION FACTOR, p79 SUBUNIT;; KIAA1269
Asterisk 607452 GABA-A RECEPTOR-ASSOCIATED PROTEIN-LIKE PROTEIN 2; GABARAPL2 GATE16, BOVINE, HOMOLOG OF; GATE16
Number Sign 607453 DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44
Number Sign 607454 SPINOCEREBELLAR ATAXIA 21; SCA21
Asterisk 607455 ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 3; ZFAND3 AN1-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 3;; TESTIS-EXPRESSED GENE 27; TEX27
Asterisk 607456 UTP4, S. CEREVISIAE, HOMOLOG OF; UTP4 CIRHIN; CIRH1A;; TESTIS-EXPRESSED GENE 292; TEX292;; KIAA1988
Number Sign 607457 GIL BLOOD GROUP
Percent 607458 SPINOCEREBELLAR ATAXIA 18; SCA18 SENSORIMOTOR NEUROPATHY WITH ATAXIA, AUTOSOMAL DOMINANT; SMNA
Number Sign 607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED; SCAE, INCLUDED;; EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY, INCLUDED;; EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY; EPM5, FORMERLY
Asterisk 607460 PHOSPHATIDYLSERINE-SPECIFIC PHOSPHOLIPASE A1-ALPHA; PLA1A PHOSPHATIDYLSERINE-SPECIFIC PHOSPHOLIPASE A1; PSPLA1
Asterisk 607461 DYMECLIN; DYM
Asterisk 607462 ATROPHIN 1; ATN1 DRPLA GENE; DRPLA
Asterisk 607463 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 13-LIKE; PPP1R13L RELA-ASSOCIATED INHIBITOR; RAI;; INHIBITORY MEMBER OF THE ASPP FAMILY; IASPP;; NF-KAPPA-B-INTERACTING PROTEIN 1; NKIP1
Number Sign 607464 THYROID CARCINOMA, HURTHLE CELL HURTHLE CELL THYROID NEOPLASIA
Asterisk 607465 CODANIN 1; CDAN1 DISCS LOST, DROSOPHILA, HOMOLOG OF; DLT
Asterisk 607466 RAS-ASSOCIATED PROTEIN RAB2B; RAB2B
Asterisk 607467 C-TYPE LECTIN-LIKE 1; CLECL1 DENDRITIC CELL-ASSOCIATED LECTIN 1; DCAL1
Asterisk 607468 G PROTEIN-COUPLED RECEPTOR 88; GPR88 STRIATUM-SPECIFIC G PROTEIN-COUPLED RECEPTOR; STRG
Asterisk 607469 N-ACYLETHANOLAMINE ACID AMIDASE; NAAA N-ACYLSPHINGOSINE AMIDOHYDROLASE-LIKE PROTEIN; ASAHL;; ASAH-LIKE PROTEIN;; ACID CERAMIDASE-LIKE PROTEIN
Asterisk 607470 BREAST CARCINOMA AMPLIFIED SEQUENCE 3; BCAS3
Asterisk 607471 BREAST CARCINOMA AMPLIFIED SEQUENCE 4; BCAS4
Asterisk 607472 MITOCHONDRIAL ESCAPE 1-LIKE 1; YME1L1 YME1L;; YME1, S. CEREVISIAE, HOMOLOG OF, 1;; PRESENILIN-ASSOCIATED METALLOPROTEASE; PAMP
Number Sign 607473 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2
Asterisk 607474 HOMOGENTISATE 1,2-DIOXYGENASE; HGD HOMOGENTISIC ACID OXIDASE; HGO
Number Sign 607475 BOTHNIA RETINAL DYSTROPHY VASTERBOTTEN DYSTROPHY
Number Sign 607476 NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD
Asterisk 607477 G2- AND S-PHASE EXPRESSED GENE 1; GTSE1
Asterisk 607478 TRYPTOPHAN HYDROXYLASE 2; TPH2 TRYPTOPHAN HYDROXYLASE, NEURONAL; NTPH
Asterisk 607479 APC, DOWNREGULATED BY, 1; APCDD1
Caret 607480 MOVED TO 300424
Asterisk 607481 MMAA GENE; MMAA
Number Sign 607482 CARDIOMYOPATHY, DILATED, 1M; CMD1M
Number Sign 607483 THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2 BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE; BBGD;; BTBGD;; ENCEPHALOPATHY, THIAMINE-RESPONSIVE
Asterisk 607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A PAR6;; TAX-INTERACTING PROTEIN 40; TAX40
Number Sign 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED FTLD-TDP, GRN-RELATED;; FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED;; FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS; FTLDU;; FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE; FTDU;; DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD APHASIA, PRIMARY PROGRESSIVE, INCLUDED; PPA, INCLUDED
Number Sign 607486 KNOPS BLOOD GROUP SYSTEM; KN
Number Sign 607487 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25; CMH25
Percent 607488 DYSTONIA 15, MYOCLONIC; DYT15
Asterisk 607489 CULLIN 9; CUL9 p53-ASSOCIATED PARKIN-LIKE CYTOPLASMIC PROTEIN; PARC;; KIAA0708
Asterisk 607490 LACTATE DEHYDROGENASE D; LDHD D-LACTATE DEHYDROGENASE
Asterisk 607491 PROTEIN O-FUCOSYLTRANSFERASE 1; POFUT1 OFUT1; OFUCT1;; KIAA0180
Asterisk 607492 PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1
Asterisk 607493 INHIBITOR OF GROWTH 3; ING3 p47ING3
Asterisk 607494 INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE II, 105-KD; INPP4B
Caret 607495 MOVED TO 607138
Asterisk 607496 NITRIC OXIDE SYNTHASE TRAFFICKER; NOSTRIN ENDOTHELIAL NITRIC OXIDE SYNTHASE TRAFFIC INDUCER;; ENOS TRAFFIC INDUCER
Asterisk 607497 BETA-1,3-GLUCURONYLTRANSFERASE 2; B3GAT2 UDP-GLUCURONYLTRANSFERASE S;; GLUCURONOSYLTRANSFERASE S; GLCATS;; KIAA1963
Percent 607498 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3 MGR3
Percent 607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1; BULN1 BN
Caret 607500 MOVED TO 146390
Percent 607501 MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4 MGR4;; MGOA
Asterisk 607502 DISPATCHED, DROSOPHILA, HOMOLOG OF, 1; DISP1 DISPA
Asterisk 607503 DISPATCHED, DROSOPHILA, HOMOLOG OF, 2; DISP2 DISPB;; KIAA1742
NULL 607504 HEADACHE ASSOCIATED WITH SEXUAL ACTIVITY; HSA BENIGN SEXUAL HEADACHE; BSH
Asterisk 607505 PAS DOMAIN-CONTAINING SERINE/THREONINE KINASE; PASK PAS KINASE;; PASKIN;; KIAA0135
Asterisk 607506 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 14; ADAMTS14
Number Sign 607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1, INCLUDED; PSORAS1, INCLUDED
Percent 607508 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5 MGR5
Asterisk 607509 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 15; ADAMTS15
Asterisk 607510 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 16; ADAMTS16
Asterisk 607511 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 17; ADAMTS17
Asterisk 607512 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 18; ADAMTS18
Asterisk 607513 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 19; ADAMTS19
Number Sign 607514 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10; BMIQ10 OBESITY, SUSCEPTIBILITY TO
Asterisk 607515 PLACENTA-SPECIFIC GENE 8; PLAC8
Percent 607516 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6 MGR6 MIGRAINE, FAMILIAL HEMIPLEGIC, 4, INCLUDED; FHM4, INCLUDED
Asterisk 607517 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 4; LILRA4 IMMUNOGLOBULIN-LIKE TRANSCRIPT 7; ILT7
Asterisk 607518 MONOCYTE AND PLASMACYTOID ACTIVATED MOLECULE MAPA
Asterisk 607519 POLY(ADP-RIBOSE) POLYMERASE 4; PARP4 ADP-RIBOSYLTRANSFERASE-LIKE 1; ADPRTL1;; VAULT POLY(ADP-RIBOSE) POLYMERASE; VPARP;; KIAA0177
Asterisk 607520 ZYGOTE ARREST 1; ZAR1
Asterisk 607521 HPS5 GENE; HPS5 RUBY-EYE 2, MOUSE, HOMOLOG OF; RU2;; KIAA1017;; ALPHA-INTEGRIN-BINDING PROTEIN 63; AIBP63
Asterisk 607522 HPS6 GENE; HPS6 RUBY-EYE, MOUSE, HOMOLOG OF; RU
Number Sign 607523 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8 TOENAIL DYSTROPHY, ISOLATED
Asterisk 607524 RING FINGER PROTEIN 39; RNF39 HZFW;; HZF;; LONG-TERM POTENTIATION-INDUCED RING FINGER PROTEIN; LIRF
Asterisk 607525 ZINC RIBBON DOMAIN-CONTAINING PROTEIN 1; ZNRD1 TCTEX6, MOUSE, HOMOLOG OF; TCTEX6;; TEX6; HTEX6
Asterisk 607526 RIBOSOMAL PROTEIN L27; RPL27
Asterisk 607527 REGULATOR OF DIFFERENTIATION 1; ROD1
Asterisk 607528 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 4; ROBO4 MAGIC ROUNDABOUT
Asterisk 607529 SERYL-tRNA SYNTHETASE; SARS SERS;; SERRS
Asterisk 607530 HOMEOBOX A11, ANTISENSE; HOXA11AS HOXA11S
Asterisk 607531 KRUPPEL-LIKE FACTOR 12; KLF12 AP2 REPRESSOR; AP2REP
Asterisk 607532 PROGESTERONE-INDUCED BLOCKING FACTOR 1; PIBF1 PIBF
Asterisk 607533 DIS3 MITOTIC CONTROL, S. CEREVISIAE, HOMOLOG OF; DIS3 EXOSOME COMPONENT 11; EXOSC11;; RIBOSOMAL RNA-PROCESSING PROTEIN 44, S. CEREVISIAE, HOMOLOG OF; RRP44;; KIAA1008
Asterisk 607534 YY1-ASSOCIATED FACTOR 2; YAF2
Asterisk 607535 RING1- AND YY1-BINDING PROTEIN; RYBP YY1- AND E4TF1/GABP-ASSOCIATED FACTOR 1; YEAF1
Asterisk 607536 CREB-REGULATED TRANSCRIPTION COACTIVATOR 1; CRTC1 MUCOEPIDERMOID CARCINOMA-TRANSLOCATED 1; MECT1;; TRANSDUCER OF REGULATED cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; TORC1;; TRANSDUCER OF REGULATED CREB 1;; KIAA0616;; FLJ14027 MECT1/MAML2 FUSION GENE, INCLUDED
Asterisk 607537 MASTERMIND-LIKE 2; MAML2 MASTERMIND, DROSOPHILA, HOMOLOG OF, 3; MAM3;; KIAA1819 MAML2/MECT1 FUSION GENE, INCLUDED;; MAML2/MLL FUSION GENE, INCLUDED
Asterisk 607538 NUDE NEURODEVELOPMENT PROTEIN 1-LIKE 1; NDEL1 NUDE-LIKE PROTEIN; NUDEL;; ENDOOLIGOPEPTIDASE A; EOPA
Number Sign 607539 CAMPTOSYNPOLYDACTYLY, COMPLEX; CCSPD CAMPTOPOLYDACTYLY, DISORGANIZATION TYPE
NULL 607540 SECRETORY DIARRHEA, MYOPATHY, AND DEAFNESS
Number Sign 607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA ACD;; AVELLINO CORNEAL DYSTROPHY;; COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY;; GRANULAR CORNEAL DYSTROPHY, TYPE II; CGD2
Asterisk 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1 KVLQT1;; POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 9; KCNA9;; KCNA8
NULL 607543 SPONDYLOMETAPHYSEAL DYSPLASIA WITH BOWED FOREARMS AND FACIAL DYSMORPHISM SMD WITH BOWED FOREARMS AND FACIAL DYSMORPHISM
Asterisk 607544 LEUCINE-RICH PPR MOTIF-CONTAINING PROTEIN; LRPPRC LEUCINE-RICH PROTEIN, 130-KD; LRP130
Asterisk 607545 METHYLSTEROL MONOOXYGENASE 1; MSMO1 STEROL C4-METHYLOXIDASE-LIKE; SC4MOL;; ERG25
Asterisk 607546 CD200 RECEPTOR 1; CD200R1 CD200R;; MOX2 RECEPTOR; MOX2R;; OX2 RECEPTOR; OX2R
Asterisk 607547 RIBOSOMAL PROTEIN L39-LIKE; RPL39L
Asterisk 607548 RADIAL SPOKEHEAD-LIKE 1; RSHL1
Asterisk 607549 POTE ANKYRIN DOMAIN FAMILY, MEMBER D; POTED ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 21; ANKRD21;; PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE; POTE;; PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME 21; POTE21
Asterisk 607550 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 10; SLC16A10 T-TYPE AMINO ACID TRANSPORTER 1; TAT1
Asterisk 607551 STROMAL CELL-DERIVED FACTOR 2-LIKE 1; SDF2L1 SDF2-LIKE 1
Caret 607552 MOVED TO 255320
Asterisk 607553 EPIPLAKIN 1; EPPK1
Number Sign 607554 ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3
Asterisk 607555 TORSIN 3A; TOR3A ATP-DEPENDENT INTERFERON-RESPONSIVE PROTEIN; ADIR
Asterisk 607556 TWIST, DROSOPHILA, HOMOLOG OF, 2; TWIST2 DERMIS-EXPRESSED PROTEIN 1, MOUSE, HOMOLOG OF; DERMO1
Asterisk 607557 SOLUTE CARRIER FAMILY 17 (VESICULAR GLUTAMATE COTRANSPORTER), MEMBER 8; SLC17A8 SOLUTE CARRIER FAMILY 17 (SODIUM-DEPENDENT PHOSPHATE COTRANSPORTER), MEMBER 8;; VESICULAR GLUTAMATE TRANSPORTER 3; VGLUT3
Asterisk 607558 SEC14-LIKE 2; SEC14L2 SEC14, S. CEREVISIAE, HOMOLOG OF, 2;; TOCOPHEROL-ASSOCIATED PROTEIN 1; TAP1;; TAP KIAA1186
Asterisk 607559 MAHOGUNIN, RING FINGER 1; MGRN1 MAHOGANOID, MOUSE, HOMOLOG OF;; KIAA0544
Asterisk 607560 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARHGEF2 GEFH1;; KIAA0651
Caret 607561 MOVED TO 210720
Asterisk 607562 INTERLEUKIN 23 RECEPTOR; IL23R
Asterisk 607563 SOLUTE CARRIER FAMILY 17 (VESICULAR GLUTAMATE COTRANSPORTER), MEMBER 6; SLC17A6 SOLUTE CARRIER FAMILY 17 (SODIUM-DEPENDENT INORGANIC PHOSPHATE COTRANSPORTER), MEMBER 6;; VESICULAR GLUTAMATE TRANSPORTER 2; VGLUT2;; DIFFERENTIATION-ASSOCIATED SODIUM-DEPENDENT INORGANIC PHOSPHATE COTRANSPORTER; DNPI;; SODIUM-DEPENDENT INORGANIC PHOSPHATE COTRANSPORTER, DIFFERENTIATION-ASSOCIATED
Asterisk 607564 TRIPARTITE MOTIF-CONTAINING PROTEIN 6; TRIM6
NULL 607565 SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION SPAR
Asterisk 607566 EPM2A GENE; EPM2A LAFORIN EPM2A, ISOFORM A, INCLUDED;; EPM2A, ISOFORM B, INCLUDED
Asterisk 607567 OLFACTOMEDIN 3; OLFM3 OPTIMEDIN;; NOELIN 3; NOE3
Asterisk 607568 MMAB GENE; MMAB COB(I)ALAMIN ADENOSYLTRANSFERASE
NULL 607569 MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT
Asterisk 607570 DEAH BOX POLYPEPTIDE 40; DHX40 DDX40
Asterisk 607571 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL OXODICARBOXYLATE CARRIER), MEMBER 21; SLC25A21 OXODICARBOXYLATE CARRIER; ODC
Percent 607572 LEPROSY, SUSCEPTIBILITY TO, 2; LPRS2
Asterisk 607573 MICROTUBULE-ASSOCIATED PROTEIN 1S; MAP1S MAP8;; BPY2-INTERACTING PROTEIN 1; BPY2IP1;; VCY2-INTERACTING PROTEIN 1; VCY2IP1;; CHROMOSOME 19 OPEN READING FRAME 5; C19ORF5
Asterisk 607574 ARYLSULFATASE A; ARSA CEREBROSIDE-SULFATASE;; CEREBROSIDE 3-SULFATASE
Asterisk 607575 CAT EYE SYNDROME CHROMOSOME REGION, CANDIDATE 1; CECR1 ADENOSINE DEAMINASE 2; ADA2
Asterisk 607576 CAT EYE SYNDROME CHROMOSOME REGION, CANDIDATE 2; CECR2 KIAA1740
Asterisk 607577 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 4; ENTPD4 LYSOSOMAL APYRASE-LIKE PROTEIN 1; LYSAL1;; URIDINE DIPHOSPHATASE, GOLGI LUMINAL;; UDPase, GOLGI LUMINAL;; GOLGI LUMINAL UDPase;; LAP70; LALP70;; KIAA0392
NULL 607578 BREATH-HOLDING SPELLS BHS
Asterisk 607579 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER 9; SLC22A9 ORGANIC ANION TRANSPORTER 4; OAT4;; UST3
Asterisk 607580 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER 10; SLC22A10 ORGANIC ANION TRANSPORTER 5; OAT5
Asterisk 607581 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 8; SLC22A8 ORGANIC ANION TRANSPORTER 3; OAT3
Asterisk 607582 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 6; SLC22A6 ORGANIC ANION TRANSPORTER 1; OAT1;; PARA-AMINOHIPPURATE TRANSPORTER; PAHT;; PAH TRANSPORTER
Asterisk 607583 PEROXISOME BIOGENESIS FACTOR 11G; PEX11G PEX11-GAMMA
Percent 607584 SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24
Asterisk 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Asterisk 607586 CALCIUM RESPONSE FACTOR; CARF ALS2 CHROMOSOME REGION GENE 8; ALS2CR8
Asterisk 607587 INTERLEUKIN 17D; IL17D
Asterisk 607588 PEPTIDYL-PROLYL ISOMERASE-LIKE 2; PPIL2 CYCLOPHILIN, 60-KD; CYP60
Asterisk 607589 SERUM/GLUCOCORTICOID-REGULATED KINASE 2; SGK2
Asterisk 607590 BBS7 GENE; BBS7 FLJ10715
Asterisk 607591 SERUM/GLUCOCORTICOID-REGULATED KINASE 3; SGK3 SERUM/GLUCOCORTICOID-REGULATED KINASE-LIKE PROTEIN; SGKL;; CYTOKINE-INDEPENDENT SURVIVAL KINASE; CISK
Percent 607592 PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19 HPCQTL19
Asterisk 607593 MEDIATOR OF DNA DAMAGE CHECKPOINT PROTEIN 1; MDC1 NUCLEAR FACTOR WITH BRCT DOMAINS PROTEIN 1; NFBD1;; KIAA0170
Number Sign 607594 IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1 ANTIBODY DEFICIENCY DUE TO ICOS DEFECT IMMUNODEFICIENCY, COMMON VARIABLE, INCLUDED; CVID, INCLUDED
Number Sign 607595 BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES; BSVD BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE;; INFANTILE HEMIPARESIS;; RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT;; BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY;; LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
Number Sign 607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A PCH1;; PONTOCEREBELLAR HYPOPLASIA WITH INFANTILE SPINAL MUSCULAR ATROPHY;; PONTOCEREBELLAR HYPOPLASIA WITH ANTERIOR HORN CELL DISEASE
NULL 607597 MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES
Number Sign 607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2 MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE A
Asterisk 607599 RETINOL DEHYDROGENASE 10; RDH10
Percent 607600 EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS; EBSS
Asterisk 607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1; TICAM1 TIR DOMAIN-CONTAINING ADAPTOR INDUCING INTERFERON-BETA; TRIF
Number Sign 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS CIEHK;; EPIDERMOLYTIC ICHTHYOSIS, ANNULAR; AEI
Asterisk 607603 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 4; KCNG4 KV6.3;; KV6.4
Asterisk 607604 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY V, MEMBER 2; KCNV2 KV8.2
Asterisk 607605 GLUTATHIONE S-TRANSFERASE, ALPHA-5; GSTA5 GLUTATHIONE S-TRANSFERASE A5
Asterisk 607606 KERATIN 9, TYPE I; KRT9 K9;; KA9
Asterisk 607607 NUCLEOPORIN, 54-KD; NUP54
Asterisk 607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1 SPHINGOMYELINASE, ACID; ASM
Asterisk 607609 PEPTIDYL-PROLYL ISOMERASE-LIKE 4; PPIL4
Asterisk 607610 PHOSPHOLIPID SCRAMBLASE 2; PLSCR2
Asterisk 607611 PHOSPHOLIPID SCRAMBLASE 3; PLSCR3
Asterisk 607612 PHOSPHOLIPID SCRAMBLASE 4; PLSCR4
Asterisk 607613 NUCLEOPORIN, 133-KD; NUP133
Asterisk 607614 NUCLEOPORIN, 160-KD; NUP160 NUP120;; KIAA0197
Asterisk 607615 NUCLEOPORIN, 58-KD; NUP58 NUCLEOPORIN-LIKE 1; NUPL1;; KIAA0410
Number Sign 607616 NIEMANN-PICK DISEASE, TYPE B NIEMANN-PICK DISEASE, TYPE E, INCLUDED;; NIEMANN-PICK DISEASE, TYPE F, INCLUDED;; NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION, INCLUDED
Asterisk 607617 NUCLEOPORIN, 107-KD; NUP107 NUP84, YEAST, HOMOLOG OF; NUP84
Asterisk 607618 DEAD/H BOX 28; DDX28 MITOCHONDRIAL DEAD BOX POLYPEPTIDE 28; MDDX28
Asterisk 607619 FERM DOMAIN-CONTAINING PROTEIN 3; FRMD3 NONERYTHROID PROTEIN 4.1, OVARY TYPE;; PROTEIN 4.1O;; EPB41LO
Asterisk 607620 COLLECTIN 10; COLEC10 COLLECTIN, LIVER, 1; CLL1
Asterisk 607621 COLLECTIN 12; COLEC12 SCAVENGER RECEPTOR WITH C-TYPE LECTIN DOMAIN; SRCL;; COLLECTIN, PLACENTA, 1; CLP1;; SCAVENGER RECEPTOR CLASS A, MEMBER 4; SCARA4
Asterisk 607622 PHOSPHOMEVALONATE KINASE; PMVK PMK;; PMKase
Asterisk 607623 NPC1 GENE; NPC1
Number Sign 607624 GRISCELLI SYNDROME, TYPE 2; GS2 GRISCELLI SYNDROME WITH HEMOPHAGOCYTIC SYNDROME;; PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME;; PAID SYNDROME
Number Sign 607625 NIEMANN-PICK DISEASE, TYPE C2; NPC2
Number Sign 607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; ILVASC ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME;; NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME;; NISCH SYNDROME
Asterisk 607627 BREAST CANCER- AND SALIVARY GLAND-EXPRESSED GENE BASE
Number Sign 607628 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8, INCLUDED; EJM8, INCLUDED;; EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2, INCLUDED; EJA2, INCLUDED
Asterisk 607629 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, A; APH1A
Asterisk 607630 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, B; APH1B
Number Sign 607631 EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1 JAE1
Asterisk 607632 PRESENILIN ENHANCER 2, C. ELEGANS, HOMOLOG OF; PSENEN PEN2
Asterisk 607633 XANTHINE DEHYDROGENASE; XDH XANTHINE OXIDOREDUCTASE; XOR;; XANTHINE OXIDASE; XO
Number Sign 607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I
Asterisk 607635 CARBOXYPEPTIDASE A4; CPA4 CPA3
Number Sign 607636 VAN BUCHEM DISEASE, TYPE 2 VBCH2
Asterisk 607637 EMX2 OPPOSITE STRAND; EMX2OS EMX2-ANTISENSE
Asterisk 607638 DEOXYCYTIDYLATE DEAMINASE; DCTD
Asterisk 607639 PROTEIN WITH 4 GROUP B SCAVENGER RECEPTOR CYSTEINE-RICH DOMAINS; SRCRB4D S4D-SRCRB
Asterisk 607640 ATAXIN 7; ATXN7
Number Sign 607641 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B HMN VIIB;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB;; DHMN7B;; NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB;; LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE
Asterisk 607642 RETINOIC ACID-INDUCED GENE 1; RAI1 RETINOIC ACID-INDUCIBLE 1
Asterisk 607643 FASCIN ACTIN-BUNDLING PROTEIN 2, RETINAL; FSCN2 FASCIN, SEA URCHIN, HOMOLOG OF, 2;; FASCIN, RETINAL; RFSN
Percent 607644 CANDIDIASIS, FAMILIAL, 3; CANDF3 CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1;; FCNC
Asterisk 607645 D4S234E GENE; D4S234E
Asterisk 607646 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7B; ZBTB7B ZINC FINGER PROTEIN 67, MOUSE, HOMOLOG OF; ZFP67;; COLLAGEN KROX PROTEIN; CKROX;; T HELPER-INDUCING POZ/KRUPPEL-LIKE FACTOR; THPOK
Asterisk 607647 PLASMALEMMA VESICLE-ASSOCIATED PROTEIN; PLVAP PLASMALEMMA VESICLE PROTEIN 1; PV1
Asterisk 607648 SERINE/THREONINE PROTEIN KINASE 39; STK39 STE20/SPS1-RELATED PROLINE- AND ALANINE-RICH KINASE; SPAK
Asterisk 607649 OSTEOPETROSIS-ASSOCIATED TRANSMEMBRANE PROTEIN 1; OSTM1 GREY-LETHAL, MOUSE, HOMOLOG OF; GL
Asterisk 607650 DEFENSIN, BETA, 118; DEFB118 CHROMOSOME 20 OPEN READING FRAME 63; C20ORF63;; EPIDIDYMIS-SPECIFIC CLONE 42; ESC42
Asterisk 607651 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY B, MEMBER 1; PLEKHB1 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, RETINAL, 1; PHR1;; KPL1
Asterisk 607652 SERINE/THREONINE PROTEIN KINASE 36; STK36 FUSED, DROSOPHILA, HOMOLOG OF; FU;; KIAA1278
Asterisk 607653 RAS HOMOLOG GENE FAMILY, MEMBER J; RHOJ ARHJ;; TC10-LIKE PROTEIN; TCL;; TC10-BETA
Number Sign 607654 KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 STRIATE PALMOPLANTAR KERATODERMA III; SPPK3;; KERATODERMA, PALMOPLANTAR, STRIATE FORM III; KPPS3
Number Sign 607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME; SFWHS
Percent 607656 CURLY HAIR-ACRAL KERATODERMA-CARIES SYNDROME CHACS
Asterisk 607657 CYSTATHIONINE GAMMA-LYASE; CTH CYSTATHIONASE
Percent 607658 HYPOTRICHOSIS-OSTEOLYSIS-PERIODONTITIS-PALMOPLANTAR KERATODERMA SYNDROME HOPP SYNDROME
Asterisk 607659 ELL-ASSOCIATED FACTOR 2; EAF2
Asterisk 607660 TESTIS-SPECIFIC SERINE/THREONINE KINASE 3; TSSK3 SERINE/THREONINE PROTEIN KINASE 22C; STK22C;; STK22D, MOUSE, HOMOLOG OF; STK22D
Asterisk 607661 SPERM-ASSOCIATED ANTIGEN 10; SPAG10
Asterisk 607662 SPERMATOGENESIS-ASSOCIATED PROTEIN 2; SPATA2 KIAA0757
Asterisk 607663 DEAD BOX POLYPEPTIDE 25; DDX25 GONADOTROPIN-REGULATED TESTICULAR RNA HELICASE; GRTH
Asterisk 607664 N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS GLUCOSAMINE-6-SULFATASE; G6S
NULL 607665 TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS; TINU ACUTE TUBULOINTERSTITIAL NEPHRITIS, INCLUDED; ATIN, INCLUDED
Asterisk 607666 ANGIOPOIETIN-LIKE 5; ANGPTL5
Asterisk 607667 CATENIN, ALPHA-3; CTNNA3 ALPHA-T-CATENIN;; VR22
Asterisk 607668 ADP-RIBOSYLATION-LIKE FACTOR 6-INTERACTING PROTEIN 4; ARL6IP4
Asterisk 607669 ADP-RIBOSYLATION-LIKE FACTOR 6-INTERACTING PROTEIN 1; ARL6IP1 ARL6IP;; KIAA0069
Asterisk 607670 SERINE/THREONINE PROTEIN KINASE 33; STK33
Percent 607671 DYSTONIA 13, TORSION, AUTOSOMAL DOMINANT; DYT13
Asterisk 607672 CARDIOTROPHIN-LIKE CYTOKINE FACTOR 1; CLCF1 CLC;; B-CELL STIMULATORY FACTOR 3; BSF3
Asterisk 607673 ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE PROTEIN 1; EDEM1 EDEM;; KIAA0212
Percent 607674 CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY
Asterisk 607675 REST COREPRESSOR; RCOR COREST;; KIAA0071
Number Sign 607676 IRAK4 DEFICIENCY IRAK4D
Number Sign 607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2I
Number Sign 607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D HEREDITARY MOTOR AND SENSORY NEUROPATHY 1D;; HMSN ID;; HMSN1D;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1D
Asterisk 607679 DEDICATOR OF CYTOKINESIS 4; DOCK4 KIAA0716
Asterisk 607680 ZINC FINGER PROTEIN 363; ZNF363 p53-INDUCED PROTEIN, RING-H2 DOMAIN-CONTAINING; PIRH2;; ANDROGEN RECEPTOR N-TERMINAL DOMAIN-INTERACTING PROTEIN; ARNIP
Number Sign 607681 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; ECA2
Number Sign 607682 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6, INCLUDED; EJM6, INCLUDED
Percent 607683 DEAFNESS, AUTOSOMAL DOMINANT 52; DFNA52 DEAFNESS, AUTOSOMAL DOMINANT 42; DFNA42
Number Sign 607684 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E
Number Sign 607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES
Asterisk 607686 FIP1-LIKE 1; FIP1L1 FIP1L1/PDGFRA FUSION GENE, INCLUDED
Percent 607687 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3 HDLCQ3
Number Sign 607688 PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11
Caret 607689 MOVED TO 246700
Asterisk 607690 SAR1, S. CEREVISIAE, HOMOLOG B; SAR1B SAR1A, S. CEREVISIAE, HOMOLOG 2; SARA2
Asterisk 607691 SAR1, S. CEREVISIAE, HOMOLOG OF, A; SAR1A SAR1A, S. CEREVISIAE, HOMOLOG OF, 1; SARA1
Caret 607692 MOVED TO 248800 AND 246700
Asterisk 607693 SELENOCYSTEINE INSERTION SEQUENCE-BINDING PROTEIN 2; SECISBP2 SECIS-BINDING PROTEIN 2; SBP2
Number Sign 607694 LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7 LEUKOENCEPHALOPATHY, HYPOMYELINATING, WITH ATAXIA AND DELAYED DENTITION;; ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION; ADDH;; LEUKODYSTROPHY, HYPOMYELINATING, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM;; 4H SYNDROME
Asterisk 607695 EUKARYOTIC ELONGATION FACTOR, SELENOCYSTEINE-tRNA-SPECIFIC; EEFSEC SELENOPROTEIN TRANSLATION FACTOR SELB; SELB;; EFSEC
Asterisk 607696 USH1G GENE; USH1G SCAFFOLD PROTEIN CONTAINING ANKYRIN REPEATS AND SAM DOMAIN; SANS
Asterisk 607697 SET-BINDING FACTOR 2; SBF2 MYOTUBULARIN-RELATED 13; MTMR13;; KIAA1766
Asterisk 607698 LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR; LCOR MBLK1-RELATED PROTEIN 2; MLR2;; KIAA1795 CHROMOSOME 10 OPEN READING FRAME 12, INCLUDED; C10ORF12, INCLUDED;; PRC2-ASSOCIATED LCOR ISOFORM 1, INCLUDED; PALI1, INCLUDED
Asterisk 607699 RING FINGER PROTEIN 20; RNF20 BRE1, S. CEREVISIAE, HOMOLOG OF, A; BRE1A
Asterisk 607700 RING FINGER PROTEIN 40; RNF40 BRE1, S. CEREVISIAE, HOMOLOG OF, B; BRE1B;; SYNTAXIN 1-INTERACTING RING FINGER PROTEIN; STARING;; RB1-BINDING PROTEIN, 95-KD; RBP95;; KIAA0661
Asterisk 607701 KELCH-LIKE 41; KLHL41 KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 10; KBTBD10;; SARCOSIN
Asterisk 607702 TRANSCRIPTIONAL AND IMMUNE RESPONSE REGULATOR; TCIM CHROMOSOME 8 OPEN READING FRAME 4; C8ORF4;; THYROID CANCER 1; TC1
Asterisk 607703 NUCLEOPORIN, 210-KD; NUP210 GP210;; KIAA0906
Asterisk 607704 KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 1; KANK1 KIDNEY ANKYRIN REPEAT-CONTAINING PROTEIN; KANK;; ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 15; ANKRD15;; KIAA0172
Asterisk 607705 PROTEASOME ACTIVATOR SUBUNIT 4; PSME4 PROTEASOME ACTIVATOR, 200-KD; PA200;; KIAA0077
Number Sign 607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, AXONAL FORM;; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
Asterisk 607707 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-BETA; CAMK2B
Asterisk 607708 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-DELTA; CAMK2D
Asterisk 607709 TIGHT JUNCTION PROTEIN 2; TJP2 ZONA OCCLUDENS 2; ZO2
Asterisk 607710 FAMILY WITH SEQUENCE SIMILARITY 189, MEMBER A2; FAM189A2 X123 GENE;; C9ORF61
Asterisk 607711 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, A; DIP2A DIP2;; KIAA0184
Asterisk 607712 HYPERMETHYLATED IN CANCER 2; HIC2 HIC1-RELATED GENE ON CHROMOSOME 22; HRG22;; KIAA1020
Asterisk 607713 KILLER-SPECIFIC SECRETORY PROTEIN, 37-KD KSP37
Asterisk 607714 TNFAIP3-INTERACTING PROTEIN 1; TNIP1 NEF-ASSOCIATED FACTOR 1; NAF1;; A20-BINDING INHIBITOR OF NFKB 1; ABIN1;; KIAA0113
Asterisk 607715 TSC22 DOMAIN FAMILY, MEMBER 1; TSC22D1 TSC22
Asterisk 607716 SYNAPTOTAGMIN 13; SYT13 KIAA1427
Asterisk 607717 TENSIN 2; TNS2 TENSIN-LIKE C1 DOMAIN-CONTAINING PHOSPHATASE; TENC1;; C1TEN;; KIAA1075
Asterisk 607718 SYNAPTOTAGMIN 6; SYT6
Asterisk 607719 SYNAPTOTAGMIN 8; SYT8
Asterisk 607720 TRANSLIN-ASSOCIATED FACTOR X-INTERACTING PROTEIN 1; TSNAXIP1 TSNAX-INTERACTING PROTEIN 1;; TRAX-INTERACTING PROTEIN 1; TXI1
Number Sign 607721 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 NSLH;; TOSTI SYNDROME
Asterisk 607722 ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 2; EMC2 ER MEMBRANE PROTEIN COMPLEX, SUBUNIT 2;; KIAA0103
Asterisk 607723 SAD1 AND UNC84 DOMAIN-CONTAINING PROTEIN 1; SUN1 SUN DOMAIN-CONTAINING PROTEIN 1;; UNC84, C. ELEGANS, HOMOLOG OF, A; UNC84A;; KIAA0810
Asterisk 607724 CALCYPHOSINE 2; CAPS2
Asterisk 607725 POLY(ADP-RIBOSE) POLYMERASE 2; PARP2 ADP-RIBOSYLTRANSFERASE-LIKE 2; ADPRTL2;; ADP-RIBOSYLTRANSFERASE 2; ADPRT2
Asterisk 607726 POLY(ADP-RIBOSE) POLYMERASE 3; PARP3 ADP-RIBOSYLTRANSFERASE-LIKE 3; ADPRTL3
Asterisk 607727 CULLIN-ASSOCIATED NEDDYLATION-DISSOCIATED PROTEIN 1; CAND1 TBP-INTERACTING PROTEIN, 120-KD, A;; TIP120A;; TIP120;; p120(CAND1);; KIAA0829
Percent 607728 POROKERATOSIS 4, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK4 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 2; DSAP2
Asterisk 607729 DNA DAMAGE-INDUCIBLE TRANSCRIPT 4; DDIT4 REGULATED IN DEVELOPMENT AND DNA DAMAGE RESPONSES 1; REDD1;; HIF1-RESPONSIVE PROTEIN RTP801; RTP801
Asterisk 607730 DNA DAMAGE-INDUCIBLE TRANSCRIPT 4-LIKE; DDIT4L REGULATED IN DEVELOPMENT AND DNA DAMAGE RESPONSES 2; REDD2
Percent 607731 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H; CMT2H CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH PYRAMIDAL FEATURES, AUTOSOMAL RECESSIVE;; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH PYRAMIDAL FEATURES, AUTOSOMAL RECESSIVE
Asterisk 607732 STERILE ALPHA AND TIR MOTIFS-CONTAINING PROTEIN 1; SARM1 STERILE ALPHA AND HEAT/ARMADILLO MOTIFS-CONTAINING PROTEIN; SARM;; KIAA0524
Asterisk 607733 SCRIBBLE, DROSOPHILA, HOMOLOG OF; SCRIB SCRIBBLE 1; SCRB1;; CIRCLETAIL, MOUSE, HOMOLOG OF;; KIAA0147
Number Sign 607734 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F
Asterisk 607735 PROGESTERONE RECEPTOR MEMBRANE COMPONENT 2; PGRMC2
Number Sign 607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; CMT2J CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, WITH HEARING LOSS AND PUPILLARY ABNORMALITIES
Asterisk 607737 FIBROBLAST GROWTH FACTOR-BINDING PROTEIN 1; FGFBP1 FGF-BINDING PROTEIN 1; FGFBP;; HEPARIN-BINDING GROWTH FACTOR-BINDING PROTEIN, 17-KD; HBP17;; HBGF-BINDING PROTEIN, 17-KD
Asterisk 607738 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 2; KCNB2 KV2.2
Caret 607739 MOVED TO 604563
Asterisk 607740 UBIQUITIN-SPECIFIC PROTEASE 32; USP32 NY-REN-60
Asterisk 607741 TBC1 DOMAIN FAMILY, MEMBER 3; TBC1D3 TBC1D3A
Asterisk 607742 KERATIN 24, TYPE I; KRT24 K24;; KA24;; FLJ20261
Asterisk 607743 FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 2; FRS2 FGFR SUBSTRATE 2;; FRS2-ALPHA; FRS2A;; SUC1-ASSOCIATED NEUROTROPHIC FACTOR TARGET 1; SNT1; SNT
Asterisk 607744 FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 3; FRS3 FGFR SUBSTRATE 3;; FRS2-BETA; FRS2B;; SUC1-ASSOCIATED NEUROTROPHIC FACTOR TARGET 2; SNT2
Number Sign 607745 SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3; BFIC3;; SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE; BFNIS
Asterisk 607746 FERMITIN FAMILY (DROSOPHILA) HOMOLOG 2; FERMT2 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY C, MEMBER 1; PLEKHC1;; MITOGEN-INDUCIBLE GENE 2; MIG2;; UNC112, C. ELEGANS, HOMOLOG OF; UNC112;; KINDLIN 2; KIND2
Asterisk 607747 FILAMIN-BINDING LIM PROTEIN 1; FBLP1 MIG2- AND FILAMIN-INTERACTING PROTEIN; MIGFILIN
Number Sign 607748 HYPERCHOLANEMIA, FAMILIAL; FHCA
Asterisk 607749 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 3; CDCA3 TRIGGER OF MITOTIC ENTRY 1; TOME1
Asterisk 607750 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3C; APOBEC3C A3C
Asterisk 607751 TASTE RECEPTOR, TYPE 2, MEMBER 38; TAS2R38 TRANSFORMING GROWTH FACTOR BETA-STIMULATED CLONE 22; TSC22;; PTC;; T2R61
Asterisk 607752 CYCLIN O; CCNO URACIL-DNA GLYCOSYLASE 2; UNG2; UDG2;; URACIL-DNA GLYCOSYLASE, CYCLIN-LIKE
Asterisk 607753 SINGLE-STRAND-SELECTIVE MONOFUNCTIONAL URACIL-DNA GLYCOSYLASE 1 SMUG1
Asterisk 607754 MAKORIN 1; MKRN1
Asterisk 607755 MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 2; MAPK8IP2 JNK-INTERACTING PROTEIN 2; JIP2;; ISLET-BRAIN 2; IB2
Asterisk 607756 ALPHA-AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE-PHOSPHOPANTETHEINYL TRANSFERASE; AASDHPPT AASDPPT;; LYS5, S. CEREVISIAE, HOMOLOG OF;; CGI-80;; DKFZP566E2346
Asterisk 607757 CHIBBY; CBY HS508I15A;; C22ORF2
Asterisk 607758 CATENIN, BETA-INTERACTING PROTEIN 1; CTNNBIP1 INHIBITOR OF BETA-CATENIN AND TCF4; ICAT
Asterisk 607759 INTEGRIN, ALPHA-2B; ITGA2B PLATELET GLYCOPROTEIN IIb; GP2B;; GP IIb;; PLATELET FIBRINOGEN RECEPTOR, ALPHA SUBUNIT;; CD41B PLATELET-SPECIFIC ANTIGEN BAK, INCLUDED
Asterisk 607760 DNA TOPOISOMERASE II-BINDING PROTEIN 1; TOPBP1 KIAA0259
Asterisk 607761 KIN OF IRRE-LIKE 3; KIRREL3 NEPHRIN-LIKE 2; NEPH2;; KIAA1867;; KIRRE, MOUSE, HOMOLOG OF
Asterisk 607762 KIN OF IRRE-LIKE 2; KIRREL2 NEPHRIN-LIKE 3; NEPH3;; NEPHRIN-LIKE GENE 1; NLG1;; FILTRIN
Asterisk 607763 CENTAURIN, BETA-1; CENTB1 KIAA0050;; ARF-GAP WITH COILED-COIL, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS 1; ACAP1
Asterisk 607764 3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE; HSD3B7 C27-3-BETA-HSD
Number Sign 607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1 3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY
Asterisk 607766 CENTAURIN, BETA-2; CENTB2 KIAA0041;; ARF-GAP WITH COILED-COIL, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS 2; ACAP2
Asterisk 607767 SESTRIN 2; SESN2 SEST2;; HYPOXIA-INDUCED GENE 95; HI95
Asterisk 607768 SESTRIN 3; SESN3 SEST3
Asterisk 607769 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 4; PLEKHA4 PHOSPHATIDYLINOSITOL 3-PHOSPHATE-BINDING PH DOMAIN PROTEIN 1; PEPP1
Asterisk 607770 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 5; PLEKHA5 PHOSPHATIDYLINOSITOL 3-PHOSPHATE-BINDING PH DOMAIN PROTEIN 2; PEPP2;; KIAA1686
Asterisk 607771 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 6; PLEKHA6 PHOSPHATIDYLINOSITOL 3-PHOSPHATE-BINDING PH DOMAIN PROTEIN 3; PEPP3;; KIAA0969
Asterisk 607772 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 1; PLEKHA1 TANDEM PH DOMAIN-CONTAINING PROTEIN 1; TAPP1
Asterisk 607773 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 2; PLEKHA2 TANDEM PH DOMAIN-CONTAINING PROTEIN 2; TAPP2
Asterisk 607774 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 3; PLEKHA3 PHOSPHATIDYLINOSITOL 4-PHOSPHATE ADAPTOR PROTEIN 1; FAPP1
Asterisk 607775 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 4; KCNE4 MINIMUM POTASSIUM ION CHANNEL-RELATED PEPTIDE 3; MIRP3;; MINK-RELATED PEPTIDE 3
Asterisk 607776 SIN3, YEAST, HOMOLOG OF, A; SIN3A
Asterisk 607777 SIN3, YEAST, HOMOLOG OF, B; SIN3B KIAA0700
Number Sign 607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD
Asterisk 607779 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 7; PAQR7 MEMBRANE PROGESTIN RECEPTOR, ALPHA; MPRA;; PGLP, MOUSE, HOMOLOG OF; PGLP
Asterisk 607780 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 8; PAQR8 CHROMOSOME 6 OPEN READING FRAME 33; C6ORF33;; LYSOSOMAL MEMBRANE PROTEIN, BRAIN-EXPRESSED, 1; LMPB1;; MEMBRANE PROGESTIN RECEPTOR, BETA; MPRB
Asterisk 607781 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 5; PAQR5 MEMBRANE PROGESTIN RECEPTOR, GAMMA; MPRG
Asterisk 607782 LUC7, S. CEREVISIAE, HOMOLOG OF; LUC7L LUC7-LIKE
Asterisk 607783 MESODERM DEVELOPMENT CANDIDATE GENE 2; MESDC2 MESODERM DEVELOPMENT GENE; MESD;; KIAA0081;; BOCA, DROSOPHILA, HOMOLOG OF; BOCA MESDC2/SENP1 FUSION GENE, INCLUDED
Asterisk 607784 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 4; ABCG4 WHITE, DROSOPHILA, HOMOLOG OF, 2; WHITE2
Number Sign 607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML LEUKEMIA, JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC MYELOMONOCYTIC, INCLUDED; CMML, INCLUDED
Asterisk 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9 NEURAL APOPTOSIS-REGULATED CONVERTASE 1; NARC1
Asterisk 607787 G PROTEIN-COUPLED RECEPTOR 180; GPR180 INTIMAL THICKNESS-RELATED RECEPTOR; ITR
Asterisk 607788 MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2; MCFD2
Asterisk 607789 PHD FINGER PROTEIN 3; PHF3 KIAA0244
Asterisk 607790 TET ONCOGENE FAMILY, MEMBER 1; TET1 METHYLCYTOSINE DIOXYGENASE TET1;; TET ONCOGENE 1;; CXXC FINGER PROTEIN 6; CXXC6;; LEUKEMIA-ASSOCIATED PROTEIN WITH A CXXC DOMAIN; LCX;; KIAA1676
Number Sign 607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D; CMTDID CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D;; DI-CMTD
Asterisk 607792 GERMINAL CENTER-ASSOCIATED, SIGNALING AND MOTILITY; GCSAM GERMINAL CENTER-EXPRESSED TRANSCRIPT 2; GCET2;; HGAL
Asterisk 607793 PETER PAN, DROSOPHILA, HOMOLOG OF; PPAN SSF1, S. CEREVISIAE, HOMOLOG OF; SSF1 PPAN/P2RY11 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED
Asterisk 607794 MEST INTRONIC TRANSCRIPT 1; MESTIT1
Asterisk 607795 PRECURSOR mRNA-PROCESSING FACTOR 4, S. CEREVISIAE, HOMOLOG OF; PRPF4 PRP4;; HPRP4
Asterisk 607796 PHD FINGER PROTEIN 11; PHF11 NY-REN-34
Asterisk 607797 SMALL NUCLEAR RIBONUCLEOPROTEIN, 40-KD; SNRNP40 U5 snRNP-SPECIFIC PROTEIN, 40-KD;; SPLICING FACTOR, 38-KD; SPF38;; PRPF8-BINDING PROTEIN; PRPF8BP
Asterisk 607798 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1-LIKE; TAF1L TAF1 RNA POLYMERASE II-LIKE
Asterisk 607799 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 17; ZDHHC17 HUNTINGTIN-INTERACTING PROTEIN 14; HIP14
Asterisk 607800 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12; ABCA12
Number Sign 607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C
Asterisk 607802 CYCLIN M1; CNNM1 ANCIENT CONSERVED DOMAIN PROTEIN 1; ACDP1
Asterisk 607803 CYCLIN M2; CNNM2 ANCIENT CONSERVED DOMAIN PROTEIN 2; ACDP2
Asterisk 607804 CYCLIN M3; CNNM3 ANCIENT CONSERVED DOMAIN PROTEIN 3; ACDP3
Asterisk 607805 CYCLIN M4; CNNM4 ANCIENT CONSERVED DOMAIN PROTEIN 4; ACDP4;; KIAA1592
Asterisk 607806 OTOPETRIN 1; OTOP1
Asterisk 607807 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 13; ABCA13
Asterisk 607808 NK2 HOMEOBOX 4; NKX2-4 NK2, DROSOPHILA, HOMOLOG OF, D; NKX2D;; NKX2.4, MOUSE, HOMOLOG OF
Asterisk 607809 ACETYL-CoA ACETYLTRANSFERASE 1; ACAT1 ACAT;; ACETOACETYL-CoA THIOLASE, MITOCHONDRIAL;; T2;; MITOCHONDRIAL ACETOACETYL-CoA THIOLASE; MAT
Asterisk 607810 RADICAL S-ADENOSYL METHIONINE DOMAIN-CONTAINING PROTEIN 2; RSAD2 VIRUS INHIBITORY PROTEIN, ENDOPLASMIC RETICULUM-ASSOCIATED, INTERFERON-INDUCIBLE; VIPERIN
Asterisk 607811 p21-ACTIVATED KINASE- AND PHOSPHOLIPASE C-INTERACTING PROTEIN 1; PAK1IP1 PAK- AND PLC-INTERACTING PROTEIN 1; PIP1;; PAK1-INTERACTING PROTEIN
Number Sign 607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD BOYADJIEV-JABS SYNDROME
Asterisk 607813 PHOSPHOLIPID PHOSPHATASE-RELATED PROTEIN 4; PLPPR4 PLASTICITY-RELATED GENE 1;; LIPID PHOSPHATE PHOSPHATASE-RELATED 4; LPPR4;; LPR4;; PRG1;; KIAA0455
Asterisk 607814 REGULATOR OF G PROTEIN SIGNALING 9-BINDING PROTEIN; RGS9BP RGS9-BINDING PROTEIN;; RGS9 ANCHOR PROTEIN; R9AP
Asterisk 607815 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 1B; ANKS1B E2A/PBX1-ACTIVATED GENE IN PRE-B CELLS 1; EB1
Asterisk 607816 POLYCOMB GROUP RING FINGER PROTEIN 6; PCGF6 RING FINGER PROTEIN 134; RNF134;; MEL18- AND BMI1-LIKE RING FINGER PROTEIN; MBLR
Asterisk 607817 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, B; VPS13B COH1 GENE; COH1;; KIAA0532
Asterisk 607818 ZINC FINGER PROTEIN 365; ZNF365 SU48;; KIAA0844 TALANIN, INCLUDED; TALN, INCLUDED
Asterisk 607819 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 5; SLC30A5 ZINC TRANSPORTER 5; ZNT5;; ZNT1-LIKE 1; ZTL1
Asterisk 607820 HOOK, DROSOPHILA, HOMOLOG OF, 1; HOOK1 HK1
Number Sign 607821 DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37
Number Sign 607822 ALZHEIMER DISEASE 3; AD ALZHEIMER DISEASE 3, EARLY-ONSET;; ALZHEIMER DISEASE, FAMILIAL, 3 ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, INCLUDED;; ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA, INCLUDED
Number Sign 607823 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS
Asterisk 607824 HOOK, DROSOPHILA, HOMOLOG OF, 2; HOOK2 HK2
Asterisk 607825 HOOK, DROSOPHILA, HOMOLOG OF, 3; HOOK3 HK3
Asterisk 607826 ADENOSYLHOMOCYSTEINASE-LIKE 2; AHCYL1 S-ADENOSYLHOMOCYSTEINE HYDROLASE-LIKE 1;; AHCY-LIKE 1;; DENDRITIC CELL-EXPRESSED AHCY-LIKE PROTEIN; DCAL;; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR 1-BINDING PROTEIN RELEASED WITH INOSITOL 1,4,5-TRISPHOSPHATE; IRBIT;; ITPR1-BINDING PROTEIN RELEASED WITH IP3
Asterisk 607827 OTOPETRIN 2; OTOP2
Asterisk 607828 OTOPETRIN 3; OTOP3
Number Sign 607829 MITRAL VALVE PROLAPSE 2; MVP2 MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2;; MYXOMATOUS MITRAL VALVE PROLAPSE 2
Asterisk 607830 FRAS1 GENE; FRAS1 FRAS1;; KIAA1500
Number Sign 607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K;; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K, INCLUDED
Number Sign 607832 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 3, SUSCEPTIBILITY TO
Asterisk 607833 TACHYKININ 4; TAC4 PREPROTACHYKININ C; PPTC HEMOKININ 1, INCLUDED; HK1, INCLUDED
Percent 607834 ANXIETY HARM AVOIDANCE, INCLUDED
Asterisk 607835 SPLICING FACTOR 3B, 14-KD SUBUNIT p14;; SF3B, 14-KD SUBUNIT; SF3B14;; SPLICEOSOME-ASSOCIATED PROTEIN, 14-KD; SAP14;; PRE-mRNA BRANCH SITE PROTEIN p14
Number Sign 607836 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 2; VAMAS2;; AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED
Asterisk 607837 CLN8 GENE; CLN8
Asterisk 607838 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTG GNPTAG
Asterisk 607839 GLYCOGEN BRANCHING ENZYME; GBE1 GBE;; 1,4-ALPHA-GLUCAN BRANCHING ENZYME;; AMYLO-(1,4 to 1,6) TRANSGLUCOSIDASE;; AMYLO-(1,4 to 1,6) TRANSGLYCOSYLASE
Asterisk 607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB GNPTA;; MGC4170
Percent 607841 DEAFNESS, AUTOSOMAL DOMINANT 48; DFNA48
Number Sign 607842 AURAL ATRESIA, CONGENITAL; CAA AURAL ATRESIA, CONGENITAL, WITH HYPOSMIA
Asterisk 607843 PKHD1-LIKE 1; PKHD1L1 FIBROCYSTIN-L
Asterisk 607844 LEM DOMAIN-CONTAINING PROTEIN 3; LEMD3 INTEGRAL INNER NUCLEAR MEMBRANE PROTEIN;; MAN ANTIGEN 1; MAN1
Asterisk 607845 EXPORTIN 5; XPO5 KIAA1291
Asterisk 607846 METHYLTRANSFERASE-LIKE 2; METTL2 METL, DROSOPHILA, HOMOLOG OF; METL
Number Sign 607847 NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS NONIMMUNE CHRONIC IDIOPATHIC NEUTROPENIA OF ADULTS;; NI-CINA
Asterisk 607848 RAB-INTERACTING LYSOSOMAL PROTEIN RILP
Asterisk 607849 RETINOL DEHYDROGENASE 11; RDH11 PROSTATE SHORT-CHAIN DEHYDROGENASE/REDUCTASE 1; PSDR1;; RETINAL REDUCTASE 1; RALR1
Number Sign 607850 OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3 OSTEOARTHRITIS OF KNEE/HIP
Asterisk 607851 NAKED CUTICLE, DROSOPHILA, HOMOLOG OF, 1; NKD1
Asterisk 607852 NAKED CUTICLE, DROSOPHILA, HOMOLOG OF, 2; NKD2
Percent 607853 PANIC DISORDER 2 PAND2;; PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 9q-RELATED
Asterisk 607854 BESTROPHIN 1; BEST1 VMD2 GENE;; TU15B
Number Sign 607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, INCLUDED
Asterisk 607856 CINGULIN-LIKE 1; CGNL1 FLJ14957;; KIAA1749 CGNL1/CYP19A1 FUSION GENE, INCLUDED
Percent 607857 PSORIASIS 9, SUSCEPTIBILITY TO; PSORS9
Asterisk 607858 PRESENILIN-ASSOCIATED RHOMBOID-LIKE PROTEIN; PARL
NULL 607859 ANGIOMA, TUFTED TUFTED ANGIOMA
Asterisk 607860 YY1 ASSOCIATED PROTEIN 1; YY1AP1 YY1-ASSOCIATED PROTEIN; YAP;; HEPATOCELLULAR CARCINOMA-ASSOCIATED PROTEIN 2; HCCA2
Asterisk 607861 DAPPER, ANTAGONIST OF BETA-CATENIN, 1; DACT1 DAPPER, XENOPUS, HOMOLOG OF, 1; DPR1;; DAPPER1;; FRODO
Asterisk 607862 DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 1; DIRAS1 DISTINCT SUBGROUP OF THE RAS FAMILY, MEMBER 1;; RAS-RELATED INHIBITOR OF CELL GROWTH; RIG
Asterisk 607863 DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 2; DIRAS2 DISTINCT SUBGROUP OF THE RAS FAMILY, MEMBER 2
Number Sign 607864 CAUDAL DUPLICATION ANOMALY
Asterisk 607865 SET DOMAIN PROTEIN, BIFURCATED, 2; SETDB2 CHRONIC LYMPHOCYTIC LEUKEMIA DELETION REGION GENE 8; CLLD8
Asterisk 607866 SPRY DOMAIN-CONTAINING PROTEIN 7; SPRYD7 CHROMOSOME 13 OPEN READING FRAME 1; C13ORF1;; CHRONIC LYMPHOCYTIC LEUKEMIA DELETION REGION GENE 6; CLLD6
Asterisk 607867 RCC1 DOMAIN- AND BTB DOMAIN-CONTAINING PROTEIN 1; RCBTB1 CHRONIC LYMPHOCYTIC LEUKEMIA DELETION REGION GENE 7; CLLD7;; GDP/GTP EXCHANGE FACTOR-LIKE PROTEIN; GLP
Asterisk 607868 TRIPARTITE MOTIF-CONTAINING PROTEIN 11; TRIM11
Asterisk 607869 UNC5, C. ELEGANS, HOMOLOG OF, A; UNC5A UNC5H1
Asterisk 607870 UNC5, C. ELEGANS, HOMOLOG OF, B; UNC5B UNC5H2
Asterisk 607871 F-BOX ONLY PROTEIN 11; FBXO11 FBX11;; VITILIGO-ASSOCIATED PROTEIN 1; VIT1;; PROTEIN ARGININE METHYLTRANSFERASE 9; PRMT9
Number Sign 607872 CHROMOSOME 1p36 DELETION SYNDROME MONOSOMY 1p36 SYNDROME
Asterisk 607873 SCAVENGER RECEPTOR CLASS F, MEMBER 1; SCARF1 SCAVENGER RECEPTOR EXPRESSED BY ENDOTHELIAL CELLS; SREC;; SREC1;; SREC I;; KIAA0149
Asterisk 607874 ZINC FINGER PROTEIN 444; ZNF444 ENDOTHELIAL ZINC FINGER PROTEIN 2; EZF2
Asterisk 607875 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE K; INPP5K SKELETAL MUSCLE- AND KIDNEY-ENRICHED INOSITOL PHOSPHATASE; SKIP
Number Sign 607876 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2 BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 2; BAFME2;; CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 2; FCMTE2;; CORTICAL MYOCLONUS AND EPILEPSY, AUTOSOMAL DOMINANT; ADCME
Asterisk 607877 OTOSPIRALIN OTOSP
Asterisk 607878 NICOTINAMIDE NUCLEOTIDE TRANSHYDROGENASE; NNT
Asterisk 607879 EXOCYST COMPLEX COMPONENT 1; EXOC1 SEC3, S. CEREVISIAE, HOMOLOG OF; SEC3
Asterisk 607880 EXOCYST COMPLEX COMPONENT 6B; EXOC6B SEC15, S. CEREVISIAE, HOMOLOG OF, B; SEC15B;; KIAA0919
Asterisk 607881 SIGNAL-TRANSDUCING ADAPTOR PROTEIN 2 STAP2;; BREAST TUMOR KINASE SUBSTRATE; BKS;; BRK SUBSTRATE
Asterisk 607882 SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 2; SLC52A2 G PROTEIN-COUPLED RECEPTOR 172A; GPR172A;; G PROTEIN-COUPLED RECEPTOR 41; GPCR41;; PORCINE ENDOGENOUS RETROVIRUS, SUBGROUP A, RECEPTOR 1; PAR1;; PERV-A RECEPTOR 1;; RIBOFLAVIN TRANSPORTER 3; RFT3;; RFVT2;; FLJ11856
Asterisk 607883 SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 1; SLC52A1 G PROTEIN-COUPLED RECEPTOR 172B; GPR172B;; G PROTEIN-COUPLED RECEPTOR 42; GPCR42;; PORCINE ENDOGENOUS RETROVIRUS, SUBGROUP A, RECEPTOR 2; PAR2;; PERV-A RECEPTOR 2;; RIBOFLAVIN TRANSPORTER 1; RFT1; RFVT1;; FLJ10060
Asterisk 607884 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 1; CMTM1 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 1; CKLFSF1
Asterisk 607885 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 2; CMTM2 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 2; CKLFSF2
Asterisk 607886 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 3; CMTM3 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 3; CKLFSF3
Asterisk 607887 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 4; CMTM4 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 4; CKLFSF4
Asterisk 607888 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 5; CMTM5 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 5; CKLFSF5
Asterisk 607889 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 6; CMTM6 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 6; CKLFSF6
Asterisk 607890 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 7; CMTM7 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 7; CKLFSF7
Asterisk 607891 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 8; CMTM8 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 8; CKLFSF8
Asterisk 607892 DESMOGLEIN 4; DSG4
Percent 607893 OVARIAN CANCER, SUSCEPTIBILITY TO, 1; OVCAS1
Asterisk 607894 POLYCYSTIN 1-LIKE 2; PKD1L2 PC1L2;; KIAA1879
Asterisk 607895 POLYCYSTIN 1-LIKE 3; PKD1L3
Asterisk 607896 OVARIAN CANCER-ASSOCIATED GENE 2 OVCA2
Asterisk 607897 MUSASHI, DROSOPHILA, HOMOLOG OF, 2; MSI2 MSI2/HOXA9 FUSION GENE, INCLUDED
Asterisk 607898 TRIBBLES, DROSOPHILA, HOMOLOG OF, 3; TRIB3 TRB3;; NERVE GROWTH FACTOR-INDUCED PROTEIN KINASE; NIPK;; p65-INTERACTING INHIBITOR OF NFKB; SINK;; SKIP3;; CHROMOSOME 20 OPEN READING FRAME 97; C20ORF97
Asterisk 607899 WT1 ANTISENSE RNA; WT1AS WIT1 GENE
Asterisk 607900 FERMITIN FAMILY (DROSOPHILA) HOMOLOG 1; FERMT1 KINDLIN 1; KIND1;; KINDLERIN;; UNC112-RELATED PROTEIN 1; URP1;; CHROMOSOME 20 OPEN READING FRAME 42; C20ORF42
Asterisk 607901 FERMITIN FAMILY (DROSOPHILA) HOMOLOG 3; FERMT3 UNC112-RELATED PROTEIN 2; URP2;; KINDLIN 3; KIND3;; MIG2B
Asterisk 607902 SNURPORTIN 1; SNUPN RNA, U TRANSPORTER 1; RNUT1
Number Sign 607903 HYPOTRICHOSIS 6; HYPT6 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1; LAH1;; HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH;; HTL;; MONILETHRIX-LIKE HYPOTRICHOSIS
Asterisk 607904 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1H SUBUNIT; CACNA1H
Asterisk 607905 ALG2, S. CEREVISIAE, HOMOLOG OF; ALG2
Number Sign 607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I CDG Ii; CDGIi
Number Sign 607907 DERMATOFIBROSARCOMA PROTUBERANS; DFSP GIANT CELL FIBROBLASTOMA
Asterisk 607908 LIM AND SENESCENT CELL ANTIGEN-LIKE DOMAINS 2; LIMS2 PARTICULARLY INTERESTING NEW CYS-HIS PROTEIN 2; PINCH2
Asterisk 607909 ANTIZYME INHIBITOR 1; AZIN1 ORNITHINE DECARBOXYLASE ANTIZYME INHIBITOR; OAZIN
Asterisk 607910 KINESIN FAMILY MEMBER 9; KIF9
Asterisk 607911 EPM2A-INTERACTING PROTEIN 1; EPM2AIP1 LAFORIN-INTERACTING PROTEIN 1;; KIAA0766
Asterisk 607912 SELENOPROTEIN T; SELENOT SELT
Asterisk 607913 GLUTATHIONE PEROXIDASE 6; GPX6
Asterisk 607914 SELENOPROTEIN H; SELENOH SELH
Asterisk 607915 SELENOPROTEIN I; SELENOI SELI
Asterisk 607916 SELENOPROTEIN K; SELENOK SELK;; HSPC030
Asterisk 607917 SELENOPROTEIN O; SELENOO SELO
Asterisk 607918 SELENOPROTEIN S; SELENOS SELS;; SEPS1;; VCP-INTERACTING MEMBRANE PROTEIN; VIMP;; AD-015
Asterisk 607919 SELENOPROTEIN V; SELENOV SELV
Caret 607920 MOVED TO 159001
Number Sign 607921 RETINITIS PIGMENTOSA 30; RP30 MACULAR DEGENERATION, INCLUDED
Asterisk 607922 ALPHA-1,4-GALACTOSYLTRANSFERASE; A4GALT 4-N-ACETYLGLUCOSAMINYLTRANSFERASE;; GB3 SYNTHASE;; P(k) ANTIGEN SYNTHASE;; CD77 SYNTHASE
Asterisk 607923 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 91-KD; SNAP91 ASSEMBLY PROTEIN, 180-KD; AP180;; KIAA0656
Asterisk 607924 METASTASIS-ASSOCIATED LUNG ADENOCARCINOMA TRANSCRIPT 1; MALAT1 ALPHA GENE;; PRO1073;; NONCODING NUCLEAR-ENRICHED ABUNDANT TRANSCRIPT 2; NEAT2;; NONCODING RNA 47; NCRNA00047 ALPHA/TFEB FUSION GENE, INCLUDED;; MALAT1-ASSOCIATED SMALL CYTOPLASMIC RNA, INCLUDED; MASCRNA, INCLUDED
Asterisk 607925 B- AND T-LYMPHOCYTE ATTENUATOR; BTLA B- AND T-LYMPHOCYTE-ASSOCIATED PROTEIN
Asterisk 607926 HOST CELL FACTOR C2; HCFC2 HCF2
Asterisk 607927 ANKYRIN REPEATS- AND FYVE DOMAIN-CONTAINING PROTEIN 1; ANKFY1 ANKYRIN REPEATS HOOKED TO A ZINC FINGER MOTIF; ANKHZN;; KIAA1255
Asterisk 607928 WHIRLIN; WHRN CASK-INTERACTING PROTEIN, 98-KD; CIP98;; KIAA1526
Asterisk 607929 CCM2 GENE; CCM2 MALCAVERNIN;; CHROMOSOME 7 OPEN READING FRAME 22; C7ORF22;; OSMOSENSING SCAFFOLD FOR MEKK3; OSM
Asterisk 607930 CYTOKINE-LIKE PROTEIN 1; CYTL1 C17
Asterisk 607931 ATAXIN 2-LIKE; ATXN2L
Number Sign 607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6 MICROPHTHALMIA AND PITUITARY ANOMALIES;; MICROPHTHALMIA WITH BRAIN AND DIGIT DEVELOPMENTAL ANOMALIES;; ANOPHTHALMIA, CLINICAL, WITH MICROGNATHIA, MALFORMED EARS, DIGITAL ANOMALIES, AND ABNORMAL EXTERNAL GENITALIA
Asterisk 607933 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 11; SLC7A11 SYSTEM Xc(-) TRANSPORTER-RELATED PROTEIN; XCT
Asterisk 607934 PEPTIDYLARGININE DEIMINASE, TYPE I; PADI1
Asterisk 607935 PEPTIDYLARGININE DEIMINASE, TYPE II; PADI2
Number Sign 607936 PEELING SKIN SYNDROME 4; PSS4 ICHTHYOSIS BULLOSA OF SIEMENS-LIKE;; ICHTHYOSIS, EXFOLIATIVE, AUTOSOMAL RECESSIVE; AREI
Asterisk 607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG FLJ12581
Asterisk 607938 NEUROTRIMIN; NTM HNT;; IGLON2
Asterisk 607939 SULFATASE-MODIFYING FACTOR 1; SUMF1 C-ALPHA-FORMYLGLYCINE-GENERATING ENZYME; FGE;; FGLY-GENERATING ENZYME
Asterisk 607940 SULFATASE-MODIFYING FACTOR 2; SUMF2
Number Sign 607941 ATRIAL SEPTAL DEFECT 2; ASD2
Asterisk 607942 PHOSPHOINOSITIDE 3-KINASE ADAPTOR PROTEIN 1; PIK3AP1 PIK3 ADAPTOR PROTEIN 1;; B-CELL ADAPTOR PROTEIN; BCAP;; FLJ35564
Asterisk 607943 RAS p21 PROTEIN ACTIVATOR 4; RASA4 Ca(2+)-PROMOTED RAS INACTIVATOR; CAPRI;; GTPase-ACTIVATING PROTEIN-LIKE; GAPL;; CALCIUM-RAS PROMOTED INACTIVATOR;; KIAA0538
Number Sign 607944 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI SPENCD;; COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA;; ROIFMAN IMMUNOSKELETAL SYNDROME
Asterisk 607945 ADIPONECTIN RECEPTOR 1; ADIPOR1 CGI45;; PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 1; PAQR1
Asterisk 607946 ADIPONECTIN RECEPTOR 2; ADIPOR2 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 2; PAQR2
Asterisk 607947 POTASSIUM CHANNEL REGULATOR; KCNRG DLTET
Number Sign 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST, INCLUDED
Percent 607949 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 MTBS1
Asterisk 607950 TESTIS-SPECIFIC PROTEASE 50 TSP50
Asterisk 607951 CENTROSOMAL PROTEIN, 57-KD; CEP57 PROLIFERATION-INDUCING GENE 8; PIG8;; TESTES-SPECIFIC PROTEIN 57; TSP57;; TRANSLOKIN;; KIAA0092
Asterisk 607952 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER 11; SLC6A11 GABA TRANSPORTER 3, RAT, HOMOLOG OF; GAT3;; GABA TRANSPORTER 4, MOUSE, HOMOLOG OF; GAT4
Asterisk 607953 NEURONAL PROTEIN, 25-KD, RAT, HOMOLOG OF NP25;; NEURONAL PROTEIN, 22-KD; NP22
Asterisk 607954 RAN GUANINE NUCLEOTIDE RELEASE FACTOR RANGNRF;; MOG1, S. CEREVISIAE, HOMOLOG OF; MOG1
Asterisk 607955 STERILE ALPHA MOTIFS- AND SH3 DOMAIN-CONTAINING PROTEIN 1; SASH1 KIAA0790
Asterisk 607956 MEDIATOR COMPLEX SUBUNIT 8; MED8 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 8, S. CEREVISIAE, HOMOLOG OF
Asterisk 607957 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I-DELTA; CAMK1D CAMK1-LIKE PROTEIN KINASE; CKLIK
Asterisk 607958 SYNTAXIN-BINDING PROTEIN 6; STXBP6 AMISYN;; HSPC156
Asterisk 607959 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 10; SLC7A10 ASC1
Asterisk 607960 DEAH BOX POLYPEPTIDE 32; DHX32 DDX32
Asterisk 607961 SEMAPHORIN 7A; SEMA7A SEMAPHORIN L; SEMAL;; SEMAPHORIN K1; SEMAK1;; CDW108
Asterisk 607962 MICRO RNA 23A; MIR23A miRNA23A;; MIRN23A
Asterisk 607963 METHYL-CpG BINDING DOMAIN PROTEIN 3-LIKE 1; MBD3L1
Asterisk 607964 METHYL-CpG BINDING DOMAIN PROTEIN 3-LIKE 2; MBD3L2
Percent 607965 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1; SLEN1
Percent 607966 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2; SLEN2
Percent 607967 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3; SLEN3
Asterisk 607968 PARATHYROID HORMONE-RESPONSIVE B1 GENE PTH-RESPONSIVE B1 GENE; B1; PTHB1;; BBS9 GENE; BBS9
Asterisk 607969 CDC-LIKE KINASE 4; CLK4
Asterisk 607970 G PROTEIN-COUPLED RECEPTOR 135; GPR135
Asterisk 607971 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 15; SLC6A15 TRANSPORTER V7-3, RAT, HOMOLOG OF;; V7-3;; SODIUM-COUPLED BRANCHED-CHAIN AMINO ACID TRANSPORTER 1; SBAT1
Asterisk 607972 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 16; SLC6A16 NTT5
Asterisk 607973 NEUROPILIN- AND TOLLOID-LIKE 1; NETO1 BRAIN-SPECIFIC TRANSMEMBRANE PROTEIN 1; BCTL1
Asterisk 607974 NEUROPILIN- AND TOLLOID-LIKE 2; NETO2
Asterisk 607975 OXIDATIVE STRESS-INDUCED GROWTH INHIBITOR 1; OSGIN1 PREGNANCY-INDUCED GROWTH INHIBITOR OKL38; OKL38
Asterisk 607976 CYTOCHROME c OXIDASE, SUBUNIT 4I2; COX4I2 CYTOCHROME c OXIDASE, SUBUNIT IV, ISOFORM 2;; COX IV-2;; COX4-2
Asterisk 607977 HEADCASE, DROSOPHILA, HOMOLOG OF; HECA HDC
Asterisk 607978 SAM DOMAIN, SH3 DOMAIN, AND NUCLEAR LOCALIZATION SIGNALS 1; SAMSN1 HEMATOPOIETIC ADAPTOR CONTAINING SH3 AND SAM DOMAINS 1; HACS1
Asterisk 607979 SERINE HYDROLASE-LIKE; SERHL
Asterisk 607980 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 7, YEAST, HOMOLOG OF; TOMM7 TOM7
Asterisk 607981 NEGATIVE REGULATOR OF UBIQUITIN-LIKE PROTEINS 1; NUB1 NEDD8 ULTIMATE BUSTER 1;; NY-REN-18
Asterisk 607982 SCY1-LIKE 1; SCYL1 SCY1, S. CEREVISIAE, HOMOLOG OF, 1;; N-TERMINAL KINASE-LIKE; NTKL
Asterisk 607983 GOLGIN, RAB6-INTERACTING; GORAB SCYL1-BINDING PROTEIN 1; SCYL1BP1;; NTKL-BINDING PROTEIN 1; NTKLBP1
Asterisk 607984 SPROUTY, DROSOPHILA, HOMOLOG OF, 4; SPRY4
Asterisk 607985 N-ACETYLGLUCOSAMINE-1-PHOSPHODIESTER ALPHA-N-ACETYLGLUCOSAMINIDASE; NAGPA PHOSPHODIESTER GLYCOSIDE;; PHOSPHODIESTER ALPHA-GlcNAcase;; MANNOSE 6-PHOSPHATE-UNCOVERING ENZYME; UCE
Asterisk 607986 S100 CALCIUM-BINDING PROTEIN A14; S100A14 BCMP84
Asterisk 607987 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 10; DNAJC10 ENDOPLASMIC RETICULUM RESIDENT PROTEIN ERDJ5; ERDJ5;; J DOMAIN-CONTAINING PROTEIN DISULFIDE ISOMERASE-LIKE PROTEIN; JPDI;; J DOMAIN-CONTAINING PDI-LIKE PROTEIN
Asterisk 607988 SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN 2; SPOCK2 TESTICAN 2;; KIAA0275
Asterisk 607989 SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN 3; SPOCK3 TESTICAN 3 N-TES, INCLUDED
Asterisk 607990 UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 1; UHRF1 INVERTED CCAAT BOX-BINDING PROTEIN, 90-KD; ICBP90;; NUCLEAR PHOSPHOPROTEIN, 95-KD; NP95
Asterisk 607991 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER A3; SLC8A3 SODIUM-CALCIUM EXCHANGER 3; NCX3
Asterisk 607992 SURP AND G-PATCH DOMAINS-CONTAINING PROTEIN 1; SUGP1 SPLICING FACTOR 4; SF4
Asterisk 607993 SURP AND G-PATCH DOMAINS-CONTAINING PROTEIN 2; SUGP2 SPLICING FACTOR, ARGININE/SERINE-RICH, 14; SFRS14;; KIAA0365
Asterisk 607994 5-PRIME,3-PRIME-EXORIBONUCLEASE 1; XRN1 STRAND EXCHANGE PROTEIN 1; SEP1
Asterisk 607995 UNC93, C. ELEGANS, HOMOLOG OF, A; UNC93A
Asterisk 607996 PREPRONEUROPEPTIDE B PPNPB;; PREPRO-G PROTEIN-COUPLED RECEPTOR 7 LIGAND; PPL7;; PREPRO-GPCR7 LIGAND NEUROPEPTIDE B, INCLUDED; NPB, INCLUDED;; G PROTEIN-COUPLED RECEPTOR 7 LIGAND, INCLUDED; L7, INCLUDED;; GPCR7 LIGAND, INCLUDED;; GPCR7 LIGAND WITH C-TERMINAL EXTENSION, INCLUDED; L7C, INCLUDED
Asterisk 607997 NEUROPEPTIDE W; NPW G PROTEIN-COUPLED RECEPTOR 8 LIGAND; L8;; GPCR8 LIGAND PREPRONEUROPEPTIDE W, INCLUDED; PPNPW, INCLUDED;; PREPRO-G PROTEIN-COUPLED RECEPTOR 8 LIGAND, INCLUDED; PPL8, INCLUDED;; PREPRO-GPCR8 LIGAND, INCLUDED;; GPCR8 LIGAND WITH C-TERMINAL EXTENSION, INCLUDED; L8C, INCLUDED
Asterisk 607998 TRIPEPTIDYL PEPTIDASE I; TPP1 TPP I;; CLN2 GENE; CLN2
Asterisk 607999 ASH1-LIKE; ASH1L ASH1, DROSOPHILA, HOMOLOG OF; ASH1;; LYSINE-SPECIFIC METHYLTRANSFERASE 2H; KMT2H;; KIAA1420
Asterisk 608000 N-ALPHA-ACETYLTRANSFERASE 15, NatA AUXILIARY SUBUNIT; NAA15 NMDA RECEPTOR-REGULATED 1; NARG1;; NAT1, S. CEREVISIAE, HOMOLOG OF; NATH
Asterisk 608001 MELANOMA INHIBITORY ACTIVITY PROTEIN 2; MIA2
Asterisk 608002 NEPHROCYSTIN 3; NPHP3
Asterisk 608003 HOMEODOMAIN-INTERACTING PROTEIN KINASE 1; HIPK1 KIAA0630
Asterisk 608004 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, ZETA; NFKBIZ INTERLEUKIN 1-INDUCED NUCLEAR ANKYRIN REPEAT PROTEIN;; IL1-INDUCED NUCLEAR ANKYRIN REPEAT PROTEIN; INAP;; MOLECULE POSSESSING ANKYRIN REPEATS INDUCED BY LIPOPOLYSACCHARIDE; MAIL;; I-KAPPA-B-ZETA; IKBZ
Asterisk 608005 SIL1, S. CEREVISIAE, HOMOLOG OF; SIL1 BIP-ASSOCIATED PROTEIN; BAP
Asterisk 608006 LEIOMODIN 2; LMOD2 LEIOMODIN, CARDIAC; CLMOD
Asterisk 608007 PLECKSTRIN 2; PLEK2
Asterisk 608008 ANNEXIN A10; ANXA10
Asterisk 608009 ADENYLATE KINASE 5; AK5
Plus 608010 NPC1-LIKE 1; NPC1L1 EZETIMIBE, NONRESPONSE TO, INCLUDED
Asterisk 608011 GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 3; GNL3 NUCLEOSTEMIN; NS;; E2-INDUCED GENE 3; E2IG3
Asterisk 608012 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 2; PDIA2 PROTEIN DISULFIDE ISOMERASE, PANCREATIC; PDIP
Number Sign 608013 GAUCHER DISEASE, PERINATAL LETHAL GAUCHER DISEASE, COLLODION TYPE
Asterisk 608014 HEAT-SHOCK 22-KD PROTEIN 8; HSPB8 HSP22;; PROTEIN KINASE H11; H11;; E2-INDUCED GENE 1; E2IG1;; HEAT-SHOCK 27-KD PROTEIN 8
Asterisk 608015 TSUKUSHIN; TSKU TSUKUSHI, CHICKEN, HOMOLOG OF; TSK;; E2-INDUCED GENE 4; E2IG4
Asterisk 608016 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 8; CHCHD8 E2-INDUCED GENE 2; E2IG2
Asterisk 608017 CHROMOSOME 3 OPEN READING FRAME 28; C3ORF28 E2-INDUCED GENE 5; E2IG5
Asterisk 608018 PANCREASIN
Asterisk 608019 TNFAIP3-INTERACTING PROTEIN 3; TNIP3 LISTERIA-INDUCED GENE; LIND;; FLJ21162
Asterisk 608020 NUCLEOBINDIN 2; NUCB2 NEFA
Asterisk 608021 WAP, FOLLISTATIN, IMMUNOGLOBULIN, KUNITZ, AND NTR DOMAINS-CONTAINING PROTEIN 1; WFIKKN1 WFIKKN;; GDF-ASSOCIATED SERUM PROTEIN 2; GASP2
Number Sign 608022 DIAPHANOSPONDYLODYSOSTOSIS VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS
Asterisk 608023 DEAD/H BOX 56; DDX56 NUCLEOLAR HELICASE, 61-KD; NOH61
Asterisk 608024 PEROXISOMAL D3,D2-ENOYL-CoA ISOMERASE; PECI DIAZEPAM BINDING INHIBITOR-RELATED SEQUENCE 1; DRS1;; DBI-RELATED SEQUENCE 1
Asterisk 608025 NEUROBLASTOMA-AMPLIFIED SEQUENCE; NBAS NEUROBLASTOMA-AMPLIFIED GENE; NAG
Percent 608026 HYPERTENSIVE NEPHROPATHY; HNP1
Number Sign 608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CLAM;; PCH WITH OPTIC ATROPHY
NULL 608028 THAI SYMPHALANGISM SYNDROME
Percent 608029 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6; SCAR6 CEREBELLAR ATAXIA, INFANTILE NONPROGRESSIVE, AUTOSOMAL RECESSIVE;; NORWEGIAN INFANTILE ONSET ATAXIA
Number Sign 608030 AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS6
Percent 608031 AMYOTROPHIC LATERAL SCLEROSIS 7; ALS7
Caret 608032 MOVED TO 127500
Number Sign 608033 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3 ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO; ANE
Asterisk 608034 ASPARTOACYLASE; ASPA AMINOACYLASE 2; ACY2
Percent 608035 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4; CMM4
Percent 608036 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 4 NIDDM4;; NONINSULIN-DEPENDENT DIABETES MELLITUS 4
Asterisk 608037 CHONDROITIN POLYMERIZING FACTOR 2; CHPF2 CHONDROITIN SULFATE GLUCURONYLTRANSFERASE; CSGlcAT;; KIAA1402
Asterisk 608038 p21 PROTEIN-ACTIVATED KINASE 7; PAK7 p21 CDC42/RAC1-ACTIVATED KINASE 7;; PAK5;; KIAA1264
Asterisk 608039 NYD-SP16 FLJ35906
Asterisk 608040 INTRAFLAGELLAR TRANSPORT 74, CHLAMYDOMONAS, HOMOLOG OF; IFT74 COILED-COIL DOMAIN-CONTAINING PROTEIN 2; CCDC2;; CAPILLARY MORPHOGENESIS GENE 1; CMG1
Asterisk 608041 ANTHRAX TOXIN RECEPTOR 2; ANTXR2 CAPILLARY MORPHOGENESIS GENE 2; CMG2
Asterisk 608042 SYNAPTOTAGMIN-LIKE 1; SYTL1 SLP1;; C2 DOMAIN-CONTAINING PROTEIN JFC1; JFC1
Asterisk 608043 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 10; GALNT10 GalNAc TRANSFERASE 10; GalNAcT10
Asterisk 608044 SOLUTE CARRIER FAMILY 5 (IODIDE TRANSPORTER), MEMBER 8; SLC5A8 APICAL IODIDE TRANSPORTER; AIT;; SODIUM-COUPLED MONOCARBOXYLATE TRANSPORTER; SMCT;; SMCT1
Percent 608045 REPRESSOR OF TELOMERASE EXPRESSION 1 RTE1
Asterisk 608046 SYNOVIAL APOPTOSIS INHIBITOR 1; SYVN1 SYNOVIOLIN;; HRD1, S. CEREVISIAE, HOMOLOG OF; HRD1;; KIAA1810
Asterisk 608047 UBIQUITIN-PROTEIN LIGASE E3B; UBE3B
Asterisk 608048 SNF2, LINKER HISTONE, PHD FINGER, RING FINGER, AND HELICASE DOMAINS-CONTAINING PROTEIN; SHPRH RAD5, YEAST, HOMOLOG OF
Percent 608049 AUTISM, SUSCEPTIBILITY TO, 3; AUTS3
Asterisk 608050 TORSIN 1B; TOR1B TORSIN B;; DQ1
Number Sign 608051 MACULAR DYSTROPHY, RETINAL, 2; MCDR2
Asterisk 608052 TORSIN 2A; TOR2A TORSIN-RELATED PROTEIN 1; TORP1 PREPROSALUSIN, INCLUDED;; SALUSIN-ALPHA, INCLUDED;; SALUSIN-BETA, INCLUDED
Asterisk 608053 ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE; ETFA
Asterisk 608054 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 7; CYP2A7
Asterisk 608055 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 13; CYP2A13
Caret 608056 MOVED TO 151660
Asterisk 608057 DEOXYRIBONUCLEASE II BETA; DNASE2B DNase II-BETA;; DNASE2-LIKE ACID DNase; DLAD
Asterisk 608058 GLUCOSE-6-PHOSPHATASE, CATALYTIC, 2; G6PC2 ISLET-SPECIFIC GLUCOSE-6-PHOSPHATASE CATALYTIC SUBUNIT-RELATED PROTEIN; IGRP;; ISLET-SPECIFIC G6CP-RELATED PROTEIN
Asterisk 608059 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 7; HES7
Asterisk 608060 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 4 HES4
Asterisk 608061 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 40, YEAST, HOMOLOG OF; TOMM40 TOM40;; PEREC1
Asterisk 608062 DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 1; DCDC1
NULL 608063 BILE AND PANCREATIC DUCTS, COMPLETE ABSENCE OF
Asterisk 608064 KELCH-LIKE 5; KLHL5
Asterisk 608065 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 4; SLC38A4 NEUTRAL AMINO ACID TRANSPORTER 3; NAT3;; N-SYSTEM AMINO ACID TRANSPORTER 3;; AMINO ACID TRANSPORTER A3; ATA3
Asterisk 608066 SCAFFOLD ATTACHMENT FACTOR B2; SAFB2 KIAA0138
Asterisk 608067 RING FINGER AND WD REPEAT DOMAINS-CONTAINING PROTEIN 2; RFWD2 CONSTITUTIVE PHOTOMORPHOGENESIS PROTEIN 1, ARABIDOPSIS, HOMOLOG OF; COP1
Percent 608068 NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE AFND;; SWEET SYNDROME; SS;; GOMM-BUTTON DISEASE
Asterisk 608069 ERBB RECEPTOR FEEDBACK INHIBITOR 1; ERRFI1 MITOGEN-INDUCIBLE GENE 6; MIG6;; RECEPTOR-ASSOCIATED LATE TRANSDUCER; RALT;; GENE 33, RAT, HOMOLOG OF
Asterisk 608070 HOMOCYSTEINE- AND ENDOPLASMIC RETICULUM STRESS-INDUCIBLE PROTEIN, UBIQUITIN-LIKE DOMAIN-CONTAINING, 1; HERPUD1 HOMOCYSTEINE-RESPONSIVE ENDOPLASMIC RETICULUM RESIDENT PROTEIN; HERP;; METHYL METHANESULFONATE-INDUCIBLE FRAGMENT 1; MIF1;; KIAA0025
Asterisk 608071 F-BOX AND WD40 DOMAIN PROTEIN 4; FBXW4 FBW4; FBWD4;; DACTYLIN;; DACTYLAPLASIA, MOUSE, HOMOLOG OF;; DAC, MOUSE, HOMOLOG OF;; SHFM3 GENE, FORMERLY; SHFM3, FORMERLY
Asterisk 608072 NHL REPEAT-CONTAINING 1 GENE; NHLRC1 EPM2B GENE; EPM2B;; MALIN
Asterisk 608073 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 2; NPM2
Asterisk 608074 PROGRAMMED CELL DEATH 6-INTERACTING PROTEIN; PDCD6IP PDCD6-INTERACTING PROTEIN;; ALG2-INTERACTING PROTEIN 1; AIP1;; ALG2-INTERACTING PROTEIN X; ALIX;; KIAA1375
Asterisk 608075 PHOSPHOLIPASE C, ZETA-1; PLCZ1
Asterisk 608076 TYROSINE KINASE, NONRECEPTOR, 1; TNK1 CD38-NEGATIVE KINASE
Asterisk 608077 PURINERGIC RECEPTOR P2X-LIKE 1; P2RXL1 P2RX-LIKE 1;; P2X, SKELETAL MUSCLE-EXPRESSED; P2XM;; PURINORECEPTOR P2X6; P2X6
Percent 608078 SCHIZOPHRENIA 11 SCZD11;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 10q-RELATED
Asterisk 608079 ELAC, E. COLI, HOMOLOG OF, 1; ELAC1 DELETED IN MA29 CELL LINE; D29;; RIBONUCLEASE Z, SHORT FORM;; RNase ZS
Asterisk 608080 MAESTRO; MRO GENE BESIDE THE MA29 DELETION; B29;; C18ORF3
Asterisk 608081 SYNAPTOTAGMIN 15; SYT15
Asterisk 608082 YIPPEE-LIKE 1; YPEL1
Asterisk 608083 APOLIPOPROTEIN C-II; APOC2
Asterisk 608084 GTPase, IMAP FAMILY, MEMBER 1; GIMAP1 IMMUNITY-ASSOCIATED PROTEIN 1; IMAP1
Asterisk 608085 GTPase, IMAP FAMILY, MEMBER 2; GIMAP2 IMMUNITY-ASSOCIATED PROTEIN 2; IMAP2
Asterisk 608086 GTPase, IMAP FAMILY, MEMBER 5; GIMAP5 IMMUNITY-ASSOCIATED NUCLEOTIDE 4-LIKE 1; IAN4L1;; IAN4-LIKE 1;; IMMUNITY-ASSOCIATED PROTEIN 3; IMAP3
Asterisk 608087 GTPase, IMAP FAMILY, MEMBER 4; GIMAP4 IMMUNITY-ASSOCIATED PROTEIN 4; IMAP4;; IMMUNITY-ASSOCIATED NUCLEOTIDE 1; IAN1
Percent 608088 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH AND GASTROESOPHAGEAL REFLUX NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IB; HSAN1B;; NEUROPATHY, HEREDITARY SENSORY, TYPE IB; HSN1B
Number Sign 608089 ENDOMETRIAL CANCER
Asterisk 608090 MLX-INTERACTING PROTEIN; MLXIP MONDO FAMILY, MEMBER A; MONDOA;; KIAA0867
Number Sign 608091 JOUBERT SYNDROME 2; JBTS2 CEREBELLOOCULORENAL SYNDROME 2; CORS2
Asterisk 608092 PALLADIN, MOUSE, HOMOLOG OF; PALLD KIAA0992
Number Sign 608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J CDG Ij; CDGIj
Asterisk 608094 SOLUTE CARRIER FAMILY 37 (SUGAR-PHOSPHATE TRANSPORTER), MEMBER 1; SLC37A1 GLYCEROL-3-PHOSPHATE PERMEASE; G3PP
Asterisk 608095 SODIUM CHANNEL MODIFIER 1; SCNM1 MGC3180
Percent 608096 EPILEPSY, FAMILIAL TEMPORAL LOBE, 2; ETL2 FTLE
Number Sign 608097 PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM PERIVENTRICULAR NODULAR HETEROTOPIA 2; PVNH2;; HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE
Percent 608098 HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5p ANOMALIES PERIVENTRICULAR NODULAR HETEROTOPIA 3; PVNH3
Number Sign 608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D DUCHENNE-LIKE AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, TYPE 2; DMDA2;; ADHALINOPATHY, PRIMARY
Asterisk 608100 NFU1, S. CEREVISIAE, HOMOLOG OF; NFU1 IRON-SULFUR CLUSTER SCAFFOLD PROTEIN NFU1;; HIRA-INTERACTING PROTEIN 5; HIRIP5
Asterisk 608101 SPERMATID-SPECIFIC LINKER HISTONE H1-LIKE PROTEIN HILS1
Asterisk 608102 CLN5 GENE; CLN5
Asterisk 608103 ALG8, S. CEREVISIAE, HOMOLOG OF; ALG8 DOLICHYL-P-GLUCOSE:Glc-1-Man-9-GlcNAc-2-PP-DOLICHYL-ALPHA-3-GLUCOSYLTRANSFERASE
Number Sign 608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H CDG Ih; CDGIh
Percent 608105 EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP; EPRPDC RE-PED-WC
Number Sign 608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5 HYPER-IgM SYNDROME 5
Asterisk 608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV PYRIN;; MARENOSTRIN
Asterisk 608108 CRANIOFACIAL DEVELOPMENT PROTEIN 1; CFDP1 CRANIOFACIAL PROTEIN, 27-KD; CP27;; BUCENTAUR; BCNT
Asterisk 608109 PSEUDOURIDINE SYNTHASE 1; PUS1
Asterisk 608110 p21 PROTEIN-ACTIVATED KINASE 6; PAK6 p21 CDC42/RAC1-ACTIVATED KINASE 6
Asterisk 608111 FANCL GENE; FANCL PHD FINGER PROTEIN 9; PHF9;; FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 43-KD; FAAP43
Asterisk 608112 TRAFFICKING PROTEIN, KINESIN-BINDING 1; TRAK1 OGT-INTERACTING PROTEIN, 106-KD; OIP106;; KIAA1042;; MILTON, DROSOPHILA, HOMOLOG OF
Asterisk 608113 SARCOGLYCAN, ZETA; SGCZ ZSG1;; ZETA-SARCOGLYCAN
Asterisk 608114 CENTAURIN, ALPHA-1; CENTA1 p42-IP4
Number Sign 608115 OVARIAN HYPERSTIMULATION SYNDROME; OHSS OVARIAN HYPERSTIMULATION SYNDROME, FAMILIAL GESTATIONAL SPONTANEOUS
Asterisk 608116 HEDGEHOG ACYLTRANSFERASE-LIKE PROTEIN; HHATL HHAT-LIKE PROTEIN;; MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING 3; MBOAT3;; MEMBRANE-BOUND O-ACETYLTRANSFERASE 3;; CHROMOSOME 3 OPEN READING FRAME 3; C3ORF3;; KIAA1173
Asterisk 608117 PHOSPHODIESTERASE 4D-INTERACTING PROTEIN; PDE4DIP MYOMEGALIN, RAT, HOMOLOG OF;; MYOMEGALIN-LIKE PROTEIN; MMGL;; KIAA0454;; KIAA0477
Number Sign 608118 ZINC DEFICIENCY, TRANSIENT NEONATAL; TNZD ZINC DEFICIENCY, NEONATAL, DUE TO LOW BREAST MILK ZINC ZINC IN BREAST MILK, REDUCED, INCLUDED
Asterisk 608119 HOMEODOMAIN LEUCINE ZIPPER-CONTAINING FACTOR HOMEZ;; KIAA1443
Asterisk 608120 PARVIN, ALPHA; PARVA
Asterisk 608121 PARVIN, BETA; PARVB
Asterisk 608122 PARVIN, GAMMA; PARVG
Asterisk 608123 ACYL-CoA THIOESTERASE 8; ACOT8 PEROXISOMAL ACYL-CoA THIOESTERASE 1; PTE1
Asterisk 608124 XYLOSYLTRANSFERASE 1; XYLT1 XT1;; UDP-D-XYLOSE:PROTEOGLYCAN CORE PROTEIN BETA-D-XYLOSYLTRANSFERASE 1
Asterisk 608125 XYLOSYLTRANSFERASE 2; XYLT2 XT2;; UDP-D-XYLOSE:PROTEOGLYCAN CORE PROTEIN BETA-D-XYLOSYLTRANSFERASE 2
Asterisk 608126 ACIDIC NUCLEOPLASMIC DNA-BINDING PROTEIN 1, XENOPUS, HOMOLOG OF AND1
Asterisk 608127 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 4; PBX4
Caret 608128 MOVED TO 604605
Asterisk 608129 UBIQUITIN-ASSOCIATED DOMAIN-CONTAINING PROTEIN 1; UBAC1 UBA DOMAIN-CONTAINING PROTEIN 1;; GLIOBLASTOMA DIFFERENTIATION-RELATED PROTEIN 1; GBDR1;; KIP1 UBIQUITINATION-PROMOTING COMPLEX 2; KPC2
Asterisk 608130 NUAK FAMILY, SNF1-LIKE KINASE, 1; NUAK1 AMPK-RELATED PROTEIN KINASE 5; ARK5;; KIAA0537
Asterisk 608131 NUAK FAMILY, SNF1-LIKE KINASE, 2; NUAK2 SNF1/AMPK-RELATED PROTEIN KINASE; SNARK
Asterisk 608132 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 8; TTC8 BBS8 GENE
Number Sign 608133 RETINITIS PIGMENTOSA 7; RP7 RETINITIS PIGMENTOSA 7, DIGENIC, INCLUDED;; LEBER CONGENITAL AMAUROSIS 18, INCLUDED; LCA18, INCLUDED
Asterisk 608134 PARALEMMIN; PALM KIAA0270
Asterisk 608135 ASPORIN; ASPN PERIODONTAL LIGAMENT-ASSOCIATED PROTEIN 1; PLAP1
Asterisk 608136 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 10; ARHGEF10 KIAA0294
Asterisk 608137 NMDA RECEPTOR SYNAPTONUCLEAR SIGNALING AND NEURONAL MIGRATION FACTOR; NSMF NASAL EMBRYONIC LHRH FACTOR; NELF;; NASAL EMBRYONIC LUTEINIZING HORMONE-RELEASING HORMONE FACTOR
Asterisk 608138 PROGRAMMED CELL DEATH 7; PDCD7
Asterisk 608139 CENTROMERE PROTEIN V; CENPV NUCLEAR PROTEIN p30
Asterisk 608140 NUCLEOPORIN, 35-KD; NUP35 MITOTIC PHOSPHOPROTEIN 44; MP44;; NUP53, S. CEREVISIAE, HOMOLOG OF; NUP53
Asterisk 608141 NUCLEOPORIN, 43-KD; NUP43 p42
Asterisk 608142 HSC20, E. COLI, HOMOLOG OF HSC20;; HSCB;; JAC1, S. CEREVISIAE, HOMOLOG OF; JAC1
Asterisk 608143 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 6; AGPAT6 LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE-ZETA;; LPAAT-ZETA
Asterisk 608144 SAM POINTED DOMAIN-CONTAINING ETS TRANSCRIPTION FACTOR; SPDEF PROSTATE EPITHELIUM-SPECIFIC ETS TRANSCRIPTION FACTOR; PDEF
Asterisk 608145 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME REGION 1; NIPA1
Asterisk 608146 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME REGION 2; NIPA2
Asterisk 608147 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 5; TUBGCP5 TUBG COMPLEX-ASSOCIATED PROTEIN 5;; GAMMA-TUBULIN COMPLEX COMPONENT 5; GCP5;; KIAA1899
Asterisk 608148 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 2; SATB2 KIAA1034
Number Sign 608149 KAGAMI-OGATA SYNDROME UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14
Asterisk 608150 PERIPHILIN 1; PPHLN1
Asterisk 608151 WD REPEAT-CONTAINING PROTEIN 19; WDR19 IFT144
Asterisk 608152 PROSTAGLANDIN E SYNTHASE 2; PTGES2 PGES2;; GATE-BINDING FACTOR 1; GBF1
Asterisk 608153 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14A; PPP1R14A PROTEIN KINASE C-POTENTIATED INHIBITOR OF PROTEIN PHOSPHATASE 1, 17-KD;; PKC-POTENTIATED INHIBITOR OF PP1, 17-KD; CPI17
Percent 608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES
Asterisk 608155 SYNAPTOPODIN; SYNPO KIAA1029
Number Sign 608156 NABLUS MASK-LIKE FACIAL SYNDROME; NMLFS CHROMOSOME 8q22.1 DELETION SYNDROME
Asterisk 608157 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER), MEMBER 2; SLC25A2 ORNITHINE TRANSPORTER, MITOCHONDRIAL, 2; ORNT2
Percent 608158 CoQ-RESPONSIVE OXPHOS DEFICIENCY
Asterisk 608159 PROTEASE, SERINE, 21; PRSS21 EOSINOPHIL SERINE PROTEASE 1; ESP1;; TESTISIN
Asterisk 608160 SRY-BOX 9; SOX9 SRY-RELATED HMG-BOX GENE 9 XXSR, INCLUDED;; XYSR, INCLUDED
Number Sign 608161 MACULAR DYSTROPHY, VITELLIFORM, 3; VMD3 VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET; AVMD;; FOVEOMACULAR DYSTROPHY, ADULT-ONSET; AOFMD;; FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION
Asterisk 608162 V-SET DOMAIN-CONTAINING T-CELL ACTIVATION INHIBITOR 1; VTCN1 B7 HOMOLOG 4; B7H4;; B7 SUPERFAMILY, MEMBER 1; B7S1;; B7X
Asterisk 608163 EXOCYST COMPLEX COMPONENT 7; EXOC7 EXO70, S. CEREVISIAE, HOMOLOG OF; EXO70;; KIAA1067
Asterisk 608164 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY V, MEMBER 1; KCNV1 KV8.1
Asterisk 608165 PTB DOMAIN-CONTAINING ENGULFMENT ADAPTOR PROTEIN 1; GULP1 GULP;; CED6, C. ELEGANS, HOMOLOG OF
Asterisk 608166 SEMAPHORIN 3E; SEMA3E SEMAPHORIN H, MOUSE, HOMOLOG OF; SEMAH;; KIAA0331
Asterisk 608167 POTASSIUM CHANNEL, SUBFAMILY T, MEMBER 1; KCNT1 KIAA1422;; SLACK
Asterisk 608168 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 6; KCNH6 ETHER-A-GO-GO-RELATED GENE 2; ERG2; HERG2;; EAG-RELATED GENE 2;; KV11.2
Asterisk 608169 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 7; KCNH7 ETHER-A-GO-GO-RELATED GENE 3; ERG3; HERG3;; EAG-RELATED GENE 3;; KV11.3
Asterisk 608170 DEAD/H BOX 41; DDX41 ABSTRAKT, DROSOPHILA, HOMOLOG OF; ABS
Asterisk 608171 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 4; CACNA2D4
Asterisk 608172 DEHYDRODOLICHYL DIPHOSPHATE SYNTHASE; DHDDS DEDOL-PP SYNTHASE;; HDS;; CIS-ISOPRENYLTRANSFERASE; CIT
Percent 608173 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1 AITD1
Percent 608174 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2 AITD2
Number Sign 608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; AITD3
Percent 608176 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4 AITD4
Asterisk 608177 EXOSTOSIN GLYCOSYLTRANSFERASE 1; EXT1 EXOSTOSIN 1;; EXT
Asterisk 608178 LEUCINE ZIPPER PROTEIN 2; LUZP2
Asterisk 608179 CAYTAXIN ATCAY;; KIAA1872
Number Sign 608180 SYNPOLYDACTYLY 2; SPD2 SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
Asterisk 608181 ACIDIC CLUSTER PROTEIN, 33-KD; ACP33 MASPARDIN;; SPG21 GENE
Asterisk 608182 POTASSIUM CHANNEL-INTERACTING PROTEIN 4 KCNIP4; KCHIP4;; CALSENILIN-LIKE PROTEIN; CALP
Asterisk 608183 CHONDROITIN SULFATE SYNTHASE 1; CHSY1 CHONDROITIN SYNTHASE 1; CSS1;; CARBOHYDRATE SYNTHASE 1;; KIAA0990
NULL 608184 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4; HIGM4 HYPER-IgM SYNDROME 4
Asterisk 608185 EXOCYST COMPLEX COMPONENT 4; EXOC4 SEC8, S. CEREVISIAE, HOMOLOG OF; SEC8;; KIAA1699
Asterisk 608186 EXOCYST COMPLEX COMPONENT 3; EXOC3 SEC6, S. CEREVISIAE, HOMOLOG OF; SEC6
Asterisk 608187 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 8; MCM8
Asterisk 608188 CARDIOLIPIN SYNTHASE 1; CRLS1 GCD10, S. CEREVISIAE, HOMOLOG OF; GCD10;; CHROMOSOME 20 OPEN READING FRAME 155; C20ORF155
Number Sign 608189 TROPICAL CALCIFIC PANCREATITIS TCP
Asterisk 608190 N-ACETYLTRANSFERASE 8B; NAT8B CAMELLO, XENOPUS, HOMOLOG OF, 2; CML2
Asterisk 608191 RB-ASSOCIATED KRAB REPRESSOR RBAK
Asterisk 608192 SCY1-LIKE PROTEIN 3; SCYL3 SCY1, S. CEREVISIAE, HOMOLOG OF, 3;; PROTEIN ASSOCIATED WITH THE C-TERMINAL DOMAIN OF EZRIN; PACE1
Asterisk 608193 REC8, S. POMBE, HOMOLOG OF; REC8L1 REC8
Number Sign 608194 CONE-ROD DYSTROPHY 13; CORD13
Asterisk 608195 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 1; LRRC1 LAP AND NO PDZ PROTEIN; LANO
Asterisk 608196 WERNER HELICASE-INTERACTING PROTEIN 1; WRNIP1 WHIP
Asterisk 608197 PEPTIDOGLYCAN RECOGNITION PROTEIN 3; PGLYRP3 PEPTIDOGLYCAN RECOGNITION PROTEIN, INTERMEDIATE, ALPHA;; PGRPI-ALPHA; PGRPIA
Asterisk 608198 PEPTIDOGLYCAN RECOGNITION PROTEIN 4; PGLYRP4 PEPTIDOGLYCAN RECOGNITION PROTEIN, INTERMEDIATE, BETA;; PGRPI-BETA; PGRPIB
Asterisk 608199 PEPTIDOGLYCAN RECOGNITION PROTEIN 2; PGLYRP2 PEPTIDOGLYCAN RECOGNITION PROTEIN, LONG; PGRPL
Asterisk 608200 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1; CDK5RAP1
Asterisk 608201 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 2; CDK5RAP2 CENTROSOMAL PROTEIN, 215-KD; CEP215;; KIAA1633
Asterisk 608202 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 3; CDK5RAP3 LXXLL/LEUCINE ZIPPER-CONTAINING ARF-BINDING PROTEIN; LZAP;; C53
Number Sign 608203 NEUTROPHIL IMMUNODEFICIENCY SYNDROME
Asterisk 608204 UNC93, C. ELEGANS, HOMOLOG OF, B1; UNC93B1
Asterisk 608205 MITOCHONDRIAL TRANS-2-ENOYL-CoA REDUCTASE; MECR TRANS-2-ENOYL-CoA REDUCTASE, MITOCHONDRIAL;; 2-ENOYL THIOESTER REDUCTASE;; NUCLEAR RECEPTOR-BINDING FACTOR 1; NRBF1
Asterisk 608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2 KIAA1985
Percent 608207 KALA-AZAR, SUSCEPTIBILITY TO, 1; KAZA1 LEISHMANIASIS, VISCERAL, SUSCEPTIBILITY TO, 1
Asterisk 608208 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 4; MARCH4 MARCH IV;; KIAA1399
Asterisk 608209 DIPEPTIDYL PEPTIDASE X; DPP10 DIPEPTIDYL PEPTIDASE IV-RELATED PROTEIN 3; DPRP3;; KIAA1492
Asterisk 608210 EXOSTOSIN GLYCOSYLTRANSFERASE 2; EXT2 EXOSTOSIN 2
Asterisk 608211 KIDNEY-ASSOCIATED ANTIGEN 1; KAAG1 RU2, ANTISENSE; RU2AS
Asterisk 608212 IMMUNITY-RELATED GTPase FAMILY, M; IRGM LRG47, MOUSE, HOMOLOG OF; LRG47;; INTERFERON-INDUCIBLE PROTEIN 1, MOUSE, HOMOLOG OF; IFI1;; IRGM1
Asterisk 608213 CELL CYCLE EXIT AND NEURONAL DIFFERENTIATION 1; CEND1 BM88 ANTIGEN; BM88
Asterisk 608214 SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, BETA SUBUNIT; SCN3B SODIUM CHANNEL, BETA-3 SUBUNIT; SCNB3
Asterisk 608215 LIM HOMEOBOX GENE 6; LHX6 LHX6.1
Asterisk 608216 COMM DOMAIN-CONTAINING PROTEIN 5; COMMD5 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 5;; HYPERTENSION-RELATED CALCIUM-REGULATED GENE; HCARG
Percent 608217 SEIZURES, BENIGN FAMILIAL NEONATAL, 3; BFNS3 CONVULSIONS, BENIGN FAMILIAL NEONATAL, 3; BFNC3
Asterisk 608218 KERATIN 20, TYPE I; KRT20 K20;; KA20;; CYTOKERATIN 20; CK20;; KERATIN 21, RAT, HOMOLOG OF; KRT21
Percent 608219 DEAFNESS, AUTOSOMAL RECESSIVE 38; DFNB38
Percent 608220 SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE; SPG25 DISC HERNIATION WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
Asterisk 608221 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE-LIKE; MASTL FLJ14813;; GREATWALL; GWL
Asterisk 608222 ADENYLOSUCCINATE LYASE; ADSL ADENYLOSUCCINASE
NULL 608223 ASPIRIN RESISTANCE ASPIRIN, RESISTANCE TO ANTITHROMBOTIC EFFECT OF;; ASPIRIN, RESISTANCE TO CARDIOPROTECTIVE EFFECT OF
Number Sign 608224 DEAFNESS, AUTOSOMAL DOMINANT 41; DFNA41
Asterisk 608225 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 14; GALNT14 GalNAc TRANSFERASE 14; GalNAcT14
Asterisk 608226 NANOS, DROSOPHILA, HOMOLOG OF, 1; NANOS1 NOS1
NULL 608227 CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRAL NEURAL TUBE DEFECTS, AND GROWTH AND DEVELOPMENTAL RETARDATION
Asterisk 608228 NANOS, DROSOPHILA, HOMOLOG OF, 2; NANOS2 NOS2
Asterisk 608229 NANOS, DROSOPHILA, HOMOLOG OF, 3; NANOS3 NOS3
Asterisk 608230 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1I SUBUNIT; CACNA1I KIAA1120
Asterisk 608231 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 8; RASSF8 CHROMOSOME 12 OPEN READING FRAME 2; C12ORF2
Number Sign 608232 LEUKEMIA, CHRONIC MYELOID; CML LEUKEMIA, CHRONIC MYELOGENOUS LEUKEMIA, CHRONIC MYELOID, ATYPICAL, INCLUDED; ACML, INCLUDED
Number Sign 608233 HERMANSKY-PUDLAK SYNDROME 2; HPS2
Asterisk 608234 GALACTOSE-3-O-SULFOTRANSFERASE 3; GAL3ST3 GAL3ST2
Asterisk 608235 GALACTOSE-3-O-SULFOTRANSFERASE 4; GAL3ST4
Number Sign 608236 SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT; SNCV
Asterisk 608237 GALACTOSE-3-O-SULFOTRANSFERASE 2; GAL3ST2 GLYCOPROTEIN BETA-GALACTOSE 3-PRIME-SULFOTRANSFERASE; GP3ST
Asterisk 608238 SIGNAL PEPTIDE PEPTIDASE-LIKE 2A; SPPL2A SPP-LIKE 2A;; INTRAMEMBRANE PROTEASE 3; IMP3
Asterisk 608239 SIGNAL PEPTIDE PEPTIDASE-LIKE 2B SPP-LIKE 2B; SPPL2B;; INTRAMEMBRANE PROTEASE 4; IMP4;; KIAA1532
Asterisk 608240 SIGNAL PEPTIDE PEPTIDASE-LIKE 3 SPP-LIKE 3; SPPL3;; INTRAMEMBRANE PROTEASE 2; IMP2
Asterisk 608241 SMAD NUCLEAR INTERACTING PROTEIN 1; SNIP1
Asterisk 608242 HECT DOMAIN AND RCC1-LIKE DOMAIN 5; HERC5 CYCLIN E-BINDING PROTEIN 1; CEB1
Asterisk 608243 NONSTRUCTURAL MAINTENANCE OF CHROMOSOMES ELEMENT 3 HOMOLOG; NSMCE3 NSE3;; NECDIN-LIKE GENE 2; NDNL2;; MELANOMA ANTIGEN, FAMILY G, 1; MAGEG1
Percent 608244 OTOSCLEROSIS 3; OTSC3
Asterisk 608245 KERATIN 71, TYPE II; KRT71 K71;; KB34;; KERATIN 6, INNER ROOT SHEATH, 1; KRT6IRS1;; K6IRS1
Asterisk 608246 KERATIN 72, TYPE II; KRT72 K72;; KB35;; KERATIN 6, INNER ROOT SHEATH, 2; KRT6IRS2;; K6IRS2
Asterisk 608247 KERATIN 73, TYPE II; KRT73 K73;; KB36;; KERATIN 6, INNER ROOT SHEATH, 3; KRT6IRS3;; K6IRS3
Asterisk 608248 KERATIN 74, TYPE II; KRT74 K74;; KB37;; KERATIN 6, INNER ROOT SHEATH, 4; KRT6IRS4;; K6IRS4
Asterisk 608249 CYCLIN B1 INTERACTING PROTEIN 1; CCNB1IP1 HUMAN ENHANCER OF INVASION 10; HEI10;; CHROMOSOME 14 OPEN READING FRAME 18; C14ORF18 HEI10/HMGIC FUSION GENE, INCLUDED
Asterisk 608250 SDS3, YEAST, HOMOLOG OF SDS3;; SIN3A-ASSOCIATED PROTEIN, 45-KD; SAP45
Percent 608251 PHOBIA, SPECIFIC PHOBIA, SIMPLE
Asterisk 608252 ACTIN FILAMENT-ASSOCIATED PROTEIN 1; AFAP1 AFAP;; AFAP, 110-KD; AFAP110
Asterisk 608253 TESTIS-SPECIFIC KINASE SUBSTRATE TSKS
Asterisk 608254 PAX TRANSCRIPTION ACTIVATION DOMAIN-INTERACTING PROTEIN 1; PAXIP1 PAXIP1L;; PAX TRANSACTIVATION DOMAIN-INTERACTING PROTEIN; PTIP
Asterisk 608255 TRAF3-INTERACTING PROTEIN 3; TRAF3IP3 TRAF3-INTERACTING JNK-ACTIVATING MODULATOR; T3JAM
Asterisk 608256 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, BETA SUBUNIT; SCN4B
NULL 608257 MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT
Asterisk 608258 DIPEPTIDYL PEPTIDASE IX; DPP9 DIPEPTIDYL PEPTIDASE IV-RELATED PROTEIN 2; DPRP2
Asterisk 608259 INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 3; IGF2BP3 IGF2 mRNA-BINDING PROTEIN 3; IMP3;; KH DOMAIN CONTAINING PROTEIN OVEREXPRESSED IN CANCER; KOC1;; VICKZ3
Asterisk 608260 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 8; KCNH8 ETHER-A-GO-GO-LIKE POTASSIUM CHANNEL 1; ELK1;; EAG-LIKE POTASSIUM CHANNEL 1
Asterisk 608261 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 2; SENP2 SUMO-SPECIFIC PROTEASE 2;; SMT3-SPECIFIC ISOPEPTIDASE 2, MOUSE, HOMOLOG OF; SMT3IP2;; AXAM2, RAT, HOMOLOG OF; AXAM2;; KIAA1331
Asterisk 608262 DISRUPTED IN RENAL CARCINOMA 3; DIRC3 DIRC3/HSPBAP1 FUSION GENE, INCLUDED
Asterisk 608263 HEAT-SHOCK 27-KD PROTEIN-ASSOCIATED PROTEIN 1; HSPBAP1 HSPB-ASSOCIATED PROTEIN 1;; PASS1, RAT, HOMOLOG OF; PASS1 HSPBAP1/DIRC3 FUSION GENE, INCLUDED
Percent 608264 DEAFNESS, AUTOSOMAL RECESSIVE 40; DFNB40
Number Sign 608265 DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39
Number Sign 608266 PARATHYROID CARCINOMA PRTC
Asterisk 608267 RAS-RELATED GTP-BINDING PROTEIN C; RRAGC RAGC
Asterisk 608268 RAS-RELATED GTP-BINDING PROTEIN D; RRAGD RAGD
Asterisk 608269 SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER), MEMBER 3; SLC28A3 CONCENTRATIVE NUCLEOSIDE TRANSPORTER 3; CNT3
Asterisk 608270 THREONINE ASPARTASE 1; TASP1 TASPASE 1;; CHROMOSOME 20 OPEN READING FRAME 13; C20ORF13
Asterisk 608271 MICROTUBULE-ACTIN CROSS-LINKING FACTOR 1; MACF1 MACROPHIN 1;; TRABECULIN-ALPHA;; ACTIN CROSS-LINKING FACTOR 7; ACF7;; KIAA1251
Asterisk 608272 NEURAMINIDASE 1; NEU1 SIALIDASE 1; SIAL1;; SIALIDASE, LYSOSOMAL
Asterisk 608273 INTERLEUKIN 27; IL27 INTERLEUKIN 27, 28-KD SUBUNIT;; IL27p28;; INTERLEUKIN 30; IL30
Asterisk 608274 PROTEIN ARGININE N-METHYLTRANSFERASE 6; PRMT6
Asterisk 608275 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 15; SLC22A15 FLY-LIKE PUTATIVE TRANSPORTER 1; FLIPT1
Asterisk 608276 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 16; SLC22A16 FLY-LIKE PUTATIVE TRANSPORTER 2; FLIPT2;; CARNITINE TRANSPORTER 2; CT2
Asterisk 608277 CARBOHYDRATE SULFOTRANSFERASE 15; CHST15 B-CELL RAG-ASSOCIATED GENE; BRAG;; N-ACETYLGALACTOSAMINE 4-SULFATE 6-O-SULFOTRANSFERASE;; GalNAc4S-6ST;; KIAA0598
NULL 608278 GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGE JOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLAR ATROPHY
NULL 608279 CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS
Asterisk 608280 GROWTH ARREST-SPECIFIC 5; GAS5
NULL 608281 SCIMITAR ANOMALY, MULTIPLE CARDIAC MALFORMATIONS, AND CRANIOFACIAL AND CENTRAL NERVOUS SYSTEM ABNORMALITIES ANOMALOUS PULMONARY VENOUS RETURN, MULTIPLE CARDIAC MALFORMATIONS, AND CRANIOFACIAL AND CENTRAL NERVOUS SYSTEM ABNORMALITIES
Asterisk 608282 TRACE AMINE-ASSOCIATED RECEPTOR 9; TAAR9 TRACE AMINE RECEPTOR 3; TRAR3;; TAR3; TA3
Asterisk 608283 KINESIN FAMILY MEMBER 21A; KIF21A KIAA1708
Asterisk 608284 INTRAMEMBRANE PROTEASE 5 IMP5
Asterisk 608285 NAD SYNTHETASE 1; NADSYN1
Asterisk 608286 PROTOCADHERIN 10; PCDH10 KIAA1400
Asterisk 608287 PROTOCADHERIN 18; PCDH18 KIAA1562
Asterisk 608288 INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 1; IGF2BP1 IGF2 mRNA-BINDING PROTEIN 1; IMP1;; CODING REGION DETERMINANT-BINDING PROTEIN, MOUSE, HOMOLOG OF; CRDBP;; ZIPCODE-BINDING PROTEIN 1; ZBP1
Asterisk 608289 INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 2; IGF2BP2 IGF2 mRNA-BINDING PROTEIN 2; IMP2
Percent 608290 LELIS SYNDROME ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH ACANTHOSIS NIGRICANS
Asterisk 608291 TUBULIN-TYROSINE LIGASE; TTL
Asterisk 608292 STOMATIN-LIKE PROTEIN 2; STOML2 SLP2;; PARAPROTEIN TARGET 7; PARATARG7;; PARATARG 7
Asterisk 608293 RHO GTPase-ACTIVATING PROTEIN 17; ARHGAP17 RHOGAP INTERACTING WITH CIP4 HOMOLOGS 1; RICH1;; NADRIN, RAT, HOMOLOG OF
Asterisk 608294 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 6; NME6 NONMETASTATIC CELLS 6, PROTEIN EXPRESSED IN;; NM23H6
Asterisk 608295 FAMILY WITH SEQUENCE SIMILARITY 107, MEMBER A; FAM107A DOWNREGULATED IN RENAL CELL CARCINOMA 1; DRR1;; TU3A PROTEIN; TU3A
Asterisk 608296 FIBROBLAST GROWTH FACTOR, ACIDIC, INTRACELLULAR BINDING PROTEIN; FIBP
Caret 608297 REMOVED FROM DATABASE
Asterisk 608298 URB, MOUSE, HOMOLOG OF URB;; STEROID-SENSITIVE GENE 1, RAT, HOMOLOG OF; SSG1
Asterisk 608299 RING FINGER PROTEIN 34; RNF34 RING FINGER HOMOLOGOUS TO IAP TYPE; RFI
Asterisk 608300 N-ACETYLGLUTAMATE SYNTHASE; NAGS
Asterisk 608301 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 2; LGI2 KIAA1916
Asterisk 608302 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 3; LGI3
Asterisk 608303 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 4; LGI4
Asterisk 608304 CANCER/TESTIS ANTIGEN 3; CTAG3 CANCER-ASSOCIATED GENE 1; CAGE1
Asterisk 608305 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER 5; SLC13A5 SODIUM-COUPLED CITRATE TRANSPORTER; NACT
Asterisk 608306 TRANSCRIPTION FACTOR Sp8; SP8 BUTTONHEAD, DROSOPHILA, HOMOLOG OF; BTD
Plus 608307 CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1 VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY TO, INCLUDED
Asterisk 608308 ANKYRIN REPEAT AND BTB/POZ DOMAIN CONTAINING 1; ABTB1 BPOZ
Asterisk 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1
Asterisk 608310 ARGININOSUCCINATE LYASE; ASL ARGININOSUCCINASE
Asterisk 608311 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL D-ASPARTATE-LIKE 1B; GRINL1B
Asterisk 608312 TWIST NEIGHBOR; TWISTNB
Asterisk 608313 ARGINASE 1; ARG1 ARGINASE, LIVER
Asterisk 608314 SEPTIN 3; SEPT3 SEP3
Asterisk 608315 ELL-ASSOCIATED FACTOR 1; EAF1
Percent 608316 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2 CHDS2
Asterisk 608317 GRAINYHEAD-LIKE 3; GRHL3 GRAINYHEAD, DROSOPHILA, HOMOLOG OF, 3;; SISTER OF MAMMALIAN GRAINYHEAD;; SISTER OF MGR; SOM;; TRANSCRIPTION FACTOR CP2-LIKE 4; TFCP2L4;; CURLY TAIL, MOUSE, HOMOLOG OF
Percent 608318 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4 CHDS4
Caret 608319 MOVED TO 605097
Number Sign 608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1 CORONARY ARTERY DISEASE WITH MYOCARDIAL INFARCTION
Asterisk 608321 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 2; TICAM2 TOLL/INTERLEUKIN-1 RECEPTOR DOMAIN-CONTAINING PROTEIN; TIRP;; TRIF-RELATED ADAPTOR MOLECULE; TRAM
Asterisk 608322 KINESIN FAMILY MEMBER 21B; KIF21B KIAA0449
Number Sign 608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C;; DI-CMTC
Asterisk 608324 SMALL INTEGRAL MEMBRANE PROTEIN 3; SMIM3 NGF-INDUCED DIFFERENTIATION CLONE 67; NID67
Asterisk 608325 PHD FINGER PROTEIN 21A; PHF21A BRAF35/HDAC COMPLEX, 80-KD SUBUNIT; BHC80;; KIAA1696
Asterisk 608326 STOMATIN-LIKE PROTEIN 1; STOML1 SLP1;; STOMATIN-RELATED PROTEIN; STORP
Asterisk 608327 STOMATIN-LIKE PROTEIN 3; STOML3 STOMATIN-RELATED OLFACTORY PROTEIN; SRO
Number Sign 608328 WEILL-MARCHESANI SYNDROME 2; WMS2 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT;; SPHEROPHAKIA-BRACHYMORPHIA SYNDROME;; MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL;; GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME; GEMSS
Asterisk 608329 MYELIN REGULATORY FACTOR; MYRF CHROMOSOME 11 OPEN READING FRAME 9; C11ORF9;; KIAA0954
Asterisk 608330 PRECURSOR mRNA-PROCESSING FACTOR 19, S. CEREVISIAE, HOMOLOG OF; PRPF19 PRP19;; PSO4, S. CEREVISIAE, HOMOLOG OF; PSO4;; NUCLEAR MATRIX PROTEIN 200; NMP200
Asterisk 608331 SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 2; SLC36A2 PROTON/AMINO ACID TRANSPORTER 2; PAT2;; TRAMDORIN 1
Asterisk 608332 SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 3; SLC36A3 PROTON/AMINO ACID TRANSPORTER 3; PAT3
Asterisk 608333 DOCKING PROTEIN 4; DOK4 DOWNSTREAM OF TYROSINE KINASE 4
Asterisk 608334 DOCKING PROTEIN 5; DOK5 DOWNSTREAM OF TYROSINE KINASE 5
Asterisk 608335 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY O, MEMBER 1; PLEKHO1 CK2-INTERACTING PROTEIN 1; CKIP1;; CASEIN KINASE II-INTERACTING PROTEIN 1
Asterisk 608336 TRANSMEMBRANE DOMAIN PROTEIN REGULATED IN ADIPOCYTES, 40-KD TPRA40
Asterisk 608337 OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 1; OTUB1 OTU DOMAIN-CONTAINING UBAL-BINDING PROTEIN 1;; OTUBAIN 1; OTU1; OTB1
Asterisk 608338 OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 2; OTUB2 OTU DOMAIN-CONTAINING UBAL-BINDING PROTEIN 2;; OTUBAIN 2; OTU2; OTB2;; CHROMOSOME 14 OPEN READING FRAME 137; C14ORF137
Asterisk 608339 SYNTAXIN-BINDING PROTEIN 3; STXBP3 UNC18, C. ELEGANS, HOMOLOG OF, 3;; MUNC18-3;; MUNC18C;; PLATELET SEC1 PROTEIN; PSP
Number Sign 608340 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A;; RI-CMTA
Asterisk 608341 CYTOCHROME b5 REDUCTASE 1; CYB5R1 B5R.1;; NAD(P)H:QUINONE OXIDOREDUCTASE TYPE 3, POLYPEPTIDE A2; NQO3A2
Asterisk 608342 CYTOCHROME b5 REDUCTASE 2; CYB5R2 B5R.2
Asterisk 608343 CYTOCHROME b5 REDUCTASE 4; CYB5R4 NADPH CYTOCHROME b5 OXIDOREDUCTASE; NCB5OR
Asterisk 608344 HEAT-SHOCK 27-KD PROTEIN 9 HSPB9
Percent 608345 NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3
Caret 608346 MOVED TO 236670
Asterisk 608347 DICARBONYL/L-XYLULOSE REDUCTASE; DCXR CARBONYL REDUCTASE 2;; DICARBONYL REDUCTASE;; DIACETYL REDUCTASE;; L-XYLULOSE REDUCTASE;; P34H
Asterisk 608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA BCKD, E1-ALPHA SUBUNIT; BCKDE1A
Asterisk 608349 HEMATOPOIETIC SH2 DOMAIN-CONTAINING PROTEIN HSH2;; ALX
Asterisk 608350 ENDOMUCIN; EMCN ENDOMUCIN 2; EMCN2
Asterisk 608351 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 11; IGSF11 BRAIN- AND TESTIS-SPECIFIC IMMUNOGLOBULIN SUPERFAMILY PROTEIN; BTIGSF
Asterisk 608352 ACROSIN-BINDING PROTEIN; ACRBP PROACROSIN-BINDING PROTEIN SP32 PRECURSOR; SP32;; OY-TES-1
Asterisk 608353 ANTIZYME INHIBITOR 2 AZIN2;; ORNITHINE DECARBOXYLASE-LIKE PROTEIN;; ODC-LIKE PROTEIN; ODC1L;; KIAA1945
Number Sign 608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION; CMAVM CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION, INCLUDED
Number Sign 608355 PARKES WEBER SYNDROME; PKWS
Asterisk 608356 OUTER DENSE FIBER OF SPERM TAILS 3; ODF3 SHIPPO1
Asterisk 608357 SULFOTRANSFERASE FAMILY 1C, MEMBER 2; SULT1C2
Number Sign 608358 MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT;; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS
Asterisk 608359 SULFOTRANSFERASE FAMILY 4A, MEMBER 1; SULT4A1 BRAIN SULFOTRANSFERASE-LIKE PROTEIN 1; BRSTL1
Asterisk 608360 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8A; LRRC8A LRRC8;; KIAA1437
Number Sign 608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE; SEDK
Asterisk 608362 STATHMIN-LIKE 3; STMN3 SCG10-LIKE PROTEIN; SCLIP
Number Sign 608363 CHROMOSOME 22q11.2 DUPLICATION SYNDROME CHROMOSOME 22q11.2 MICRODUPLICATION SYNDROME
Asterisk 608364 LIM DOMAIN AND ACTIN-BINDING PROTEIN 1; LIMA1 EPITHELIAL PROTEIN LOST IN NEOPLASM; EPLIN;; STEROL REGULATORY ELEMENT-BINDING PROTEIN 3; SREBP3
Asterisk 608365 T-COMPLEX PROTEIN 10-LIKE; TCP10L
Asterisk 608366 KIAA1199 GENE; KIAA1199
Percent 608367 MYOPIA 17, AUTOSOMAL DOMINANT; MYP17 MYOPIA 4, FORMERLY; MYP4, FORMERLY
Asterisk 608368 RAD9, S. POMBE, HOMOLOG OF, B; RAD9B
Asterisk 608369 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 13; GALNT13 GalNAc TRANSFERASE 13; GalNAcT13;; KIAA1918
Asterisk 608370 STEAROYL-CoA DESATURASE 5; SCD5 ACYL-CoA DESATURASE 4; ACOD4
Percent 608371 OROFACIAL CLEFT 4; OFC4 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 4
Percent 608372 DEAFNESS, AUTOSOMAL DOMINANT 49; DFNA49
Asterisk 608373 SYNAPTOGYRIN 4; SYNGR4
Asterisk 608374 HEMOJUVELIN; HJV HFE2
Asterisk 608375 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 6; DNAJC6 DJC6;; AUXILIN, BOVINE, HOMOLOG OF;; KIAA0473
Asterisk 608376 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 12; DNAJB12 DJ10;; FLJ20027
Asterisk 608377 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 1; ARFGAP1
Asterisk 608378 NUCLEAR EXPORT MEDIATOR FACTOR; NEMF SEROLOGICALLY DEFINED COLON CANCER ANTIGEN 1; SDCCAG1;; NY-CO-1
Asterisk 608379 CHEMOKINE, CC MOTIF, RECEPTOR-LIKE PROTEIN 2; CCRL2 HCR;; CRAM;; ATYPICAL CHEMOKINE RECEPTOR 5; ACKR5
Number Sign 608380 RETINITIS PIGMENTOSA 26; RP26
Asterisk 608381 CERAMIDE KINASE-LIKE; CERKL
Asterisk 608382 DNAJ/HSP40 HOMOLOG, SUBFAMILY A, MEMBER 3; DNAJA3 TID56, DROSOPHILA, HOMOLOG OF, 1; TID1
Asterisk 608383 DIHYDROPYRIMIDINASE-LIKE 5; DPYSL5 COLLAPSIN RESPONSE MEDIATOR PROTEIN 5; CRMP5;; CRMP3-ASSOCIATED MOLECULE; CRAM;; ULIP6
Asterisk 608384 GASDERMIN C; GSDMC MELANOMA-DERIVED LEUCINE ZIPPER-CONTAINING EXTRANUCLEAR FACTOR; MLZE
Asterisk 608385 TENSIN 4; TNS4 C-TERMINAL TENSIN-LIKE PROTEIN; CTEN
Asterisk 608386 TUBEROINFUNDIBULAR PEPTIDE OF 39 AMINO ACIDS TIP39
Asterisk 608387 ZINC FINGER PROTEIN 213; ZNF213 CR53
Asterisk 608388 EVOLUTIONARILY-CONSERVED SIGNALING INTERMEDIATE IN TOLL PATHWAY; ECSIT SITPEC
Number Sign 608389 BRANCHIOOTIC SYNDROME 3; BOS3 BO SYNDROME 3
Number Sign 608390 MYOTONIA, POTASSIUM-AGGRAVATED MYOTONIA FLUCTUANS;; MYOTONIA PERMANENS;; SODIUM CHANNEL MUSCLE DISEASE;; MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE;; MYOTONIA CONGENITA, ATYPICAL LARYNGOSPASM, SEVERE NEONATAL EPISODIC, INCLUDED; SNEL, INCLUDED
Percent 608391 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2; AIS2 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 3; VAMAS3;; AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 7-RELATED
Percent 608392 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3; AIS3 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 4; VAMAS4;; AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 8-RELATED
Number Sign 608393 MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6
Percent 608394 DEAFNESS, AUTOSOMAL DOMINANT 43; DFNA43
Caret 608395 MOVED TO 610217
Asterisk 608396 SOLUTE CARRIER FAMILY 9 (SODIUM/HYDROGEN EXCHANGER), MEMBER 9; SLC9A9 SODIUM/HYDROGEN EXCHANGER 9; NHE9
Asterisk 608397 CUB AND SUSHI MULTIPLE DOMAINS 1; CSMD1 KIAA1890
Asterisk 608398 CUB AND SUSHI MULTIPLE DOMAINS 2; CSMD2 KIAA1884
Asterisk 608399 CUB AND SUSHI MULTIPLE DOMAINS 3; CSMD3 KIAA1894
Asterisk 608400 USH2A GENE; USH2A USHERIN;; USH2; US2
Asterisk 608401 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 4E; MS4A4E
Asterisk 608402 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 6E; MS4A6E
Asterisk 608403 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 10; MS4A10
Number Sign 608404 PLATELET GLYCOPROTEIN IV DEFICIENCY BLEEDING DISORDER, PLATELET-TYPE, 10; BDPLT10;; CD36 DEFICIENCY
Asterisk 608405 1-AMINOCYCLOPROPANE-1-CARBOXYLATE SYNTHASE; ACCS ACC SYNTHASE; ACS;; PHACS
NULL 608406 VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND GROWTH DEFICIENCY
Asterisk 608407 DIHYDROPYRIMIDINASE-LIKE 4; DPYSL4 COLLAPSIN RESPONSE MEDIATOR PROTEIN 3; CRMP3;; UNC33-LIKE PHOSPHOPROTEIN 4; ULIP4
Asterisk 608408 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 3; DPPA3 STELLA, MOUSE, HOMOLOG OF;; PRIMORDIAL GERM CELL PROTEIN 7; PGC7
Asterisk 608409 NORMAL MUCOSA OF ESOPHAGUS-SPECIFIC GENE 1 NMES1
Percent 608410 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7; BMIQ7 OBESITY, SUSCEPTIBILITY TO
Asterisk 608411 EXPORTIN 6; XPO6 EXP6;; KIAA0370
Asterisk 608412 GC-RICH PROMOTER-BINDING PROTEIN 1; GPBP1 GPBP;; VASCULAR WALL-LINKED PROTEIN;; VASCULIN
Asterisk 608413 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 5; UBR5 E3 UBIQUITIN PROTEIN LIGASE, HECT DOMAIN-CONTAINING, 1; EDD1; EDD;; PROGESTIN-INDUCED PROTEIN;; HYPERPLASTIC DISCS, DROSOPHILA, HOMOLOG OF; HYD;; KIAA0896
Asterisk 608414 PHOSPHOLIPASE C, EPSILON-1; PLCE1 PLCE;; KIAA1516
Number Sign 608415 PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS BRADYOPSIA
Asterisk 608416 MATRIX METALLOPROTEINASE 21; MMP21
Asterisk 608417 MATRIX METALLOPROTEINASE 28; MMP28 EPILYSIN
Asterisk 608418 SEPTIN 8; SEPT8 KIAA0202
Asterisk 608419 METHYLMALONYL-CoA EPIMERASE; MCEE METHYLMALONYL-CoA RACEMASE
Asterisk 608420 PANNEXIN 1; PANX1 PX1
Asterisk 608421 PANNEXIN 2; PANX2 PX2
Asterisk 608422 PANNEXIN 3; PANX3 PX3
Number Sign 608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F
Asterisk 608424 MUCIN 17; MUC17
Asterisk 608425 FRUCTOSAMINE 3-KINASE FN3K
Asterisk 608426 MAKORIN 2; MKRN2
Asterisk 608427 PARKIN COREGULATED GENE; PACRG
Asterisk 608428 CYTOCHROME P450, SUBFAMILY XXVIC, POLYPEPTIDE 1; CYP26C1
Asterisk 608429 CARBOHYDRATE SULFOTRANSFERASE 14; CHST14 DERMATAN-4-SULFOTRANSFERASE 1; D4ST1;; N-ACETYLGALACTOSAMINE 4-0 SULFOTRANSFERASE
Asterisk 608430 TRPC4-ASSOCIATED PROTEIN; TRPC4AP TRANSIENT RECEPTOR POTENTIAL CHANNEL 4-ASSOCIATED PROTEIN;; TUMOR NECROSIS FACTOR RECEPTOR 1-ASSOCIATED UBIQUITOUS SCAFFOLDING AND SIGNALING PROTEIN;; TNFR1-ASSOCIATED UBIQUITOUS SCAFFOLDING AND SIGNALING PROTEIN; TRUSS
Asterisk 608431 GTPase-ACTIVATING PROTEIN SH3 DOMAIN-BINDING PROTEIN 1; G3BP1 RAS-GTPase-ACTIVATING PROTEIN SH3 DOMAIN-BINDING PROTEIN;; GAP SH3 DOMAIN-BINDING PROTEIN; G3BP;; HUMAN DNA HELICASE VIII;; HDH-VIII
NULL 608432 CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM
Asterisk 608433 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 18; ZBTB18 ZINC FINGER PROTEIN 238; ZNF238;; REPRESSOR PROTEIN, 58-KD; RP58;; C2H2-171
Asterisk 608434 G PROTEIN-COUPLED RECEPTOR KINASE-INTERACTING PROTEIN 1; GIT1 GRK-INTERACTING PROTEIN 1
Asterisk 608435 MUSCLE RAS VIRAL ONCOGENE HOMOLOG; MRAS RELATED RAS VIRAL ONCOGENE HOMOLOG 3; RRAS3
Asterisk 608436 SULFOTRANSFERASE FAMILY 1B, MEMBER 1; SULT1B1 SULFOTRANSFERASE 1B2; ST1B2
Percent 608437 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4; SLEB4
Asterisk 608438 TOUSLED-LIKE KINASE 1; TLK1 KIAA0137;; PROTEIN KINASE, UBIQUITOUS-BETA; PKU-BETA
Asterisk 608439 TOUSLED-LIKE KINASE 2; TLK2 PROTEIN KINASE, UBIQUITOUS-ALPHA; PKU-ALPHA
Asterisk 608440 LACTAMASE, BETA; LACTB MITOCHONDRIAL RIBOSOMAL PROTEIN L56; MRPL56
Asterisk 608441 SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 1; SYNE1 SYNAPTIC NUCLEAR ENVELOPE PROTEIN 1;; NUCLEAR ENVELOPE SPECTRIN REPEAT PROTEIN 1;; NESPRIN 1;; KIAA0796;; KIAA1756;; KIAA1262 CPG2 ISOFORM, INCLUDED; CPG2, INCLUDED;; CPG2B ISOFORM, INCLUDED; CPG2B, INCLUDED
Asterisk 608442 SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 2; SYNE2 SYNAPTIC NUCLEAR ENVELOPE PROTEIN 2;; NUCLEAR ENVELOPE SPECTRIN REPEAT PROTEIN 2;; NESPRIN 2;; NUCLEUS AND ACTIN CONNECTING ELEMENT; NUANCE;; KIAA1011
Number Sign 608443 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3
Asterisk 608444 LYSINE-SPECIFIC METHYLTRANSFERASE 2E; KMT2E MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 5; MLL5
Percent 608445 SPEECH-SOUND DISORDER SSD
Number Sign 608446 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1, INCLUDED; MCI1, INCLUDED;; MYOCARDIAL INFARCTION, PROTECTION AGAINST, INCLUDED
Percent 608447 CAROTID INTIMAL MEDIAL THICKNESS 2 CIMT2;; CAROTID INTIMAL MEDIAL THICKNESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 12
Percent 608448 INFLAMMATORY BOWEL DISEASE 9; IBD9
Asterisk 608449 POLYPYRIMIDINE TRACT-BINDING PROTEIN 2; PTBP2 NEURONAL POLYPYRIMIDINE TRACT-BINDING PROTEIN; NPTB
Asterisk 608450 B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA-EXPRESSED GENE; BLACE
Asterisk 608451 ETHE1 GENE; ETHE1 HEPATOMA SUBTRACTED CLONE ONE; HSCO;; D83198
Asterisk 608452 PLATELET-DERIVED GROWTH FACTOR C; PDGFC FALLOTEIN
Asterisk 608453 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE C; CBLC CBL3
Caret 608454 MOVED TO 267750
Asterisk 608455 GLYCOGEN PHOSPHORYLASE, MUSCLE; PYGM MYOPHOSPHORYLASE
Number Sign 608456 FAMILIAL ADENOMATOUS POLYPOSIS 2; FAP2 COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE;; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE
Asterisk 608457 CHROMOBOX HOMOLOG 7; CBX7
Asterisk 608458 NEUROCHONDRIN; NCDN NORBIN;; KIAA0607
Asterisk 608459 CYCLIN-DEPENDENT KINASE-LIKE 3; CDKL3 NKIAMRE
Asterisk 608460 ZINC FINGER PROTEIN 276; ZFP276
Asterisk 608461 COLLAGEN, TYPE XXVII, ALPHA-1; COL27A1 KIAA1870
Percent 608462 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 8; HSCR8
Asterisk 608463 APOPTOSIS-ANTAGONIZING TRANSCRIPTION FACTOR; AATF CHE1
Asterisk 608464 ANGIOGENIC FACTOR WITH G-PATCH AND FHA DOMAINS 1; AGGF1 VG5Q GENE;; FLJ10283
Asterisk 608465 SENATAXIN; SETX
Asterisk 608466 ACTIVATOR OF HEAT-SHOCK 90-KD PROTEIN ATPase 1; AHSA1 AHA1
Asterisk 608467 STONIN 2; STON2 STN2;; STONED B, DROSOPHILA, HOMOLOG OF; STNB
Asterisk 608468 CARBON CATABOLITE REPRESSION 4-LIKE; CCRN4L CCR4L;; CCR4, S. CEREVISIAE, HOMOLOG OF; CCR4;; NOCTURNIN, XENOPUS, HOMOLOG OF; NOC
Asterisk 608469 DEAD/H BOX 17; DDX17 RNA HELICASE, 70-KD; RH70;; p72
Number Sign 608470 CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE; CDRB REIS-BUCKLERS CORNEAL DYSTROPHY; RBCD;; CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1;; CORNEAL DYSTROPHY, GEOGRAPHIC;; GRANULAR CORNEAL DYSTROPHY, TYPE III
Number Sign 608471 CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A LATTICE CORNEAL DYSTROPHY, TYPE IIIA
Asterisk 608472 ST6 BETA-GALACTOSAMIDE ALPHA-2,6-SIALYLTRANSFERASE 2; ST6GAL2 ST6GALII;; KIAA1877
Asterisk 608473 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 1; ANAPC1 APC1
Percent 608474 MYOPIA 5, AUTOSOMAL DOMINANT; MYP5
Asterisk 608475 3-HYDROXYISOBUTYRATE DEHYDROGENASE; HIBADH
Asterisk 608476 TBK1-BINDING PROTEIN 1; TBKBP1 PROSAPIP2;; KIAA0775
Asterisk 608477 ALDO-KETO REDUCTASE FAMILY 7, MEMBER A3; AKR7A3 AFLATOXIN B1-ALDEHYDE REDUCTASE 2; AFAR2
Asterisk 608478 ALDO-KETO REDUCTASE FAMILY 7, MEMBER A4 AKR7A4;; AFLATOXIN B1-ALDEHYDE REDUCTASE 3; AFAR3
Asterisk 608479 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 7; SLC26A7
Asterisk 608480 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 8; SLC26A8 TESTIS ANION TRANSPORTER 1; TAT1
Asterisk 608481 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 9; SLC26A9
Asterisk 608482 MATRIX METALLOPROTEINASE 25; MMP25 MEMBRANE-TYPE MATRIX METALLOPROTEINASE 6;; MT6-MMP;; LEUKOLYSIN;; MMP20A
Asterisk 608483 AKT-INTERACTING PROTEIN; AKTIP FUSED TOES, MOUSE, HOMOLOG OF; FTS;; FT1
NULL 608484 CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA CORNEAL OPACITIES, CONGENITAL, WITH CORNEA GUTTATA AND CORECTOPIA
Asterisk 608485 TRANSLOCATION-ASSOCIATED MEMBRANE PROTEIN 2; TRAM2 KIAA0057
Asterisk 608486 METASTASIS SUPPRESSOR 1; MTSS1 MIM;; KIAA0429
Asterisk 608487 TRIPARTITE MOTIF-CONTAINING PROTEIN 5; TRIM5 RNF88
Asterisk 608488 SPARC-RELATED MODULAR CALCIUM-BINDING 1; SMOC1 SECRETED MODULAR CALCIUM-BINDING PROTEIN 1
Asterisk 608489 STROMAL ANTIGEN 3; STAG3 STROMALIN 3;; COHESIN SUBUNIT SA3
Asterisk 608490 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 1; SLC38A1 AMINO ACID TRANSPORTER SYSTEM A, MEMBER 1; ATA1;; N-SYSTEM AMINO ACID TRANSPORTER 2; NAT2
Asterisk 608491 CYCLIN D-BINDING MYB-LIKE TRANSCRIPTION FACTOR 1; DMTF1 DMP1
Asterisk 608492 OLFACTORY RECEPTOR, FAMILY 5, SUBFAMILY F, MEMBER 1; OR5F1 OR11-10
Asterisk 608493 OLFACTORY RECEPTOR, FAMILY 10, SUBFAMILY A, MEMBER 1; OR10A1 OR11-403
Asterisk 608494 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY D, MEMBER 2; OR2D2 OR11-610
Asterisk 608495 OLFACTORY RECEPTOR, FAMILY 6, SUBFAMILY A, MEMBER 2; OR6A2 OR6A1;; OR11-55
Asterisk 608496 OLFACTORY RECEPTOR, FAMILY 5, SUBFAMILY I, MEMBER 1; OR5I1 OLF1
Asterisk 608497 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY F, MEMBER 1; OR2F1 OLF3
Asterisk 608498 ZONA PELLUCIDA-BINDING PROTEIN; ZPBP ZPBP1;; SP38
Asterisk 608499 ZONA PELLUCIDA-BINDING PROTEIN 2; ZPBP2 ZONA PELLUCIDA BINDING PROTEIN-LIKE; ZPBPL
Asterisk 608500 PRICKLE, DROSOPHILA, HOMOLOG OF, 1; PRICKLE1 PK1;; PRICKLE-LIKE 1;; REST-INTERACTING LIM DOMAIN PROTEIN; RILP
Asterisk 608501 PRICKLE, DROSOPHILA, HOMOLOG OF, 2; PRICKLE2 PRICKLE-LIKE 2
Asterisk 608502 POLY(rC)-BINDING PROTEIN 3; PCBP3 ALPHA-CP3
Asterisk 608503 POLY(rC)-BINDING PROTEIN 4; PCBP4 ALPHA-CP4;; MCG10
Asterisk 608504 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 15; ARHGEF15 EPHEXIN 5; E5;; KIAA0915
Caret 608505 MOVED TO 225750
Asterisk 608506 MITOFUSIN 1; MFN1
Asterisk 608507 MITOFUSIN 2; MFN2 KIAA0214
Plus 608508 CYTOCHROME b(-245), ALPHA SUBUNIT; CYBA CYTOCHROME b(558), ALPHA SUBUNIT;; p22-PHOX;; CYTOCHROME b LIGHT CHAIN REACTIVE OXYGEN SPECIES GENERATION, DECREASED, INCLUDED
NULL 608509 ALOPECIA UNIVERSALIS CONGENITA, XY GONADAL DYSGENESIS, AND LARYNGOMALACIA
Asterisk 608510 SH2 DOMAIN-CONTAINING 1B; SH2D1B EWS/FLI1-ACTIVATED TRANSCRIPT 2; EAT2
Asterisk 608511 PHYTANOYL-CoA HYDROXYLASE-INTERACTING PROTEIN; PHYHIP PAHX-ASSOCIATED PROTEIN 1; PAHXAP1;; KIAA0273
Asterisk 608512 NEUTROPHIL CYTOSOLIC FACTOR 1; NCF1 NOXO2;; p47-PHOX
Asterisk 608513 RIBONUCLEASE P, RNA COMPONENT H1; RPPH1 H1 RNA; H1RNA
Asterisk 608514 ANDROGEN-INDUCED GENE 1; AIG1
Asterisk 608515 NEUTROPHIL CYTOSOLIC FACTOR 2; NCF2 p67-PHOX;; NOXA2
Number Sign 608516 MAJOR DEPRESSIVE DISORDER; MDD UNIPOLAR DEPRESSION SEASONAL AFFECTIVE DISORDER, INCLUDED; SAD, INCLUDED
Asterisk 608517 MYOPALLADIN; MYPN
NULL 608518 OROFACIODIGITAL SYNDROME VII; OFD7 OFDS VII;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE VII;; WHELAN SYNDROME
Asterisk 608519 F-BOX ONLY PROTEIN 16; FBXO16 FBX16
Percent 608520 MAJOR DEPRESSIVE DISORDER 1 MDD1;; UNIPOLAR DEPRESSION 1
Asterisk 608521 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MITOGEN-ACTIVATED PROTEIN KINASE AND MAMMALIAN TARGET OF RAPAMYCIN ACTIVATOR 5; LAMTOR5 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MAPK AND MTOR ACTIVATOR 5;; HEPATITIS B VIRUS X PROTEIN-INTERACTING PROTEIN; HBXIP;; HBX-INTERACTING PROTEIN; XIP
Asterisk 608522 HEPATITIS B VIRUS X-ASSOCIATED PROTEIN; HBXAP REMODELING AND SPACING FACTOR 1; RSF1
Asterisk 608523 DIO3, OPPOSITE STRAND; DIO3OS
Asterisk 608524 INHIBITOR OF GROWTH 4; ING4
Asterisk 608525 INHIBITOR OF GROWTH 5; ING5
Percent 608526 PERIODONTITIS, AGGRESSIVE, 2
Asterisk 608527 NEURAMINIDASE 4; NEU4
Asterisk 608528 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS U PROTEIN; PIGU CELL DIVISION CYCLE 91, S. CEREVISIAE, HOMOLOG-LIKE 1; CDC91L1
Asterisk 608529 FIBRILLIN 3; FBN3 KIAA1776
Asterisk 608530 BTB/POZ DOMAIN-CONTAINING PROTEIN 1; BTBD1
Asterisk 608531 BTB/POZ DOMAIN-CONTAINING PROTEIN 2; BTBD2
Asterisk 608532 NON-SMC CONDENSIN II COMPLEX SUBUNIT G2; NCAPG2 CONDENSIN II COMPLEX, NON-SMC SUBUNIT G2;; CHROMOSOME-ASSOCIATED PROTEIN G2; CAPG2;; MORE THAN BLOOD, MOUSE, HOMOLOG OF; MTB
Asterisk 608533 F-BOX ONLY PROTEIN 38; FBXO38 FBX38;; MODULATOR OF KLF7 ACTIVITY, MOUSE, HOMOLOG OF; MOKA
Asterisk 608534 ACTIN-RELATED PROTEIN M1 ARPM1
Asterisk 608535 ACTIN-RELATED PROTEIN T2; ACTRT2 ARPT2;; ACTIN-RELATED PROTEIN M2; ARPM2
Asterisk 608536 GTP-BINDING PROTEIN 3; GTPBP3 MSS1, S. CEREVISIAE, HOMOLOG OF; MSS1
Asterisk 608537 VHL GENE; VHL
Asterisk 608538 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 5B; ARID5B ARID-CONTAINING PROTEIN 5B;; MODULATOR RECOGNITION FACTOR 2; MRF2;; DESRT, MOUSE, HOMOLOG OF; DESRT
Asterisk 608539 GLIS FAMILY ZINC FINGER PROTEIN 2; GLIS2 GLI-SIMILAR PROTEIN 2
Number Sign 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K CDG Ik; CDGIk
Asterisk 608541 RHO GTPase INVOLVED IN BETA-CATENIN, N-CADHERIN, AND NMDA RECEPTOR SIGNALING RICS;; GTPase INTERACTING WITH TRKA; GRIT;; p200RHOGAP;; p250GAP;; KIAA0712 PX-RICS ISOFORM, INCLUDED; PXRICS, INCLUDED
Percent 608542 ANEURYSM, INTRACRANIAL BERRY, 2; ANIB2
Percent 608543 SCHIZOPHRENIA 12 SCZD12;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED
Asterisk 608544 HISTONE DEACETYLASE 10; HDAC10
Percent 608545 LARSEN-LIKE SYNDROME LRSL
Asterisk 608546 EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 3; EIF4A3 DEAD/H BOX 48; DDX48;; NUK34;; NUCLEAR MATRIX PROTEIN 265; NMP265;; KIAA0111
Asterisk 608547 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1 VKOR;; FLJ00289
Asterisk 608548 HEMICENTIN; HMCN1 FIBULIN 6; FBLN6;; FIBL6
Asterisk 608549 VACUOLAR PROTEIN SORTING 11, YEAST, HOMOLOG OF; VPS11
Asterisk 608550 VACUOLAR PROTEIN SORTING 16, YEAST, HOMOLOG OF; VPS16
Asterisk 608551 VACUOLAR PROTEIN SORTING 18, YEAST, HOMOLOG OF; VPS18 KIAA1475
Asterisk 608552 VACUOLAR PROTEIN SORTING 33, YEAST, HOMOLOG OF, B; VPS33B
Number Sign 608553 LEBER CONGENITAL AMAUROSIS 9; LCA9
Asterisk 608554 NEURONAL PAS DOMAIN PROTEIN 4; NPAS4 HLH-PAS TRANSCRIPTION FACTOR NXF; NXF
Asterisk 608555 METAXIN 2; MTX2
Number Sign 608556 LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO
Percent 608557 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2 MCI2
Percent 608558 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 5; BMIQ5
Percent 608559 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 6; BMIQ6
Asterisk 608560 STABILIN 1; STAB1 MS-1 ANTIGEN;; FASCICLIN EGF-LIKE, LAMININ-TYPE EGF-LIKE, AND LINK DOMAIN-CONTAINING SCAVENGER RECEPTOR 1; FEEL1;; KIAA0246
Asterisk 608561 STABILIN 2; STAB2 HEPATIC HYALURONAN CLEARANCE RECEPTOR;; FASCICLIN EGF-LIKE, LAMININ-TYPE EGF-LIKE, AND LINK DOMAIN-CONTAINING SCAVENGER RECEPTOR 2; FEEL2
Percent 608562 POLYDACTYLY, POSTAXIAL, TYPE A4 PAPA4;; POSTAXIAL POLYDACTYLY, TYPE A4
Caret 608563 MOVED TO 204650
Asterisk 608564 G PROTEIN-COUPLED RECEPTOR KINASE-INTERACTING PROTEIN 2; GIT2 GRK-INTERACTING PROTEIN 2;; COOL-INTERACTING TYROSINE-PHOSPHORYLATED PROTEIN 2; CAT2;; KIAA0148
Number Sign 608565 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35
Asterisk 608566 MUCIN 15, TRANSMEMBRANE; MUC15 PASIII;; PAS3;; GLYCOPROTEIN C;; GLYCOPROTEIN 4;; COMPONENT II
Number Sign 608567 SICK SINUS SYNDROME 1; SSS1 SINUS RHYTHM, CONGENITAL ABSENCE OF;; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE;; SICK SINUS SYNDROME, CONGENITAL;; SINUS BRADYCARDIA SYNDROME, FAMILIAL
Asterisk 608568 MYOSIN, HEAVY CHAIN 14, NONMUSCLE; MYH14 NONMUSCLE MYOSIN HEAVY CHAIN IIC;; NMHC IIC;; KIAA2034
Number Sign 608569 CARDIOMYOPATHY, DILATED, 1O; CMD1O CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
Asterisk 608570 AHNAK NUCLEOPROTEIN 2; AHNAK2 CHROMOSOME 14 OPEN READING FRAME 78; C14ORF78;; KIAA2019
NULL 608571 ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY
Number Sign 608572 BURN-MCKEOWN SYNDROME; BMKS OCULOOTOFACIAL DYSPLASIA; OOFD
Caret 608573 MOVED TO 605096
Asterisk 608574 EMSY GENE EMSY;; CHROMOSOME 11 OPEN READING FRAME 30; C11ORF30
Asterisk 608575 RETINOL DEHYDROGENASE 8; RDH8 RETINOL DEHYDROGENASE, ALL-TRANS;; RETINOL DEHYDROGENASE, PHOTORECEPTOR; PRRDH
Asterisk 608576 GRAINYHEAD-LIKE 2; GRHL2 GRAINYHEAD, DROSOPHILA, HOMOLOG OF, 2;; BROTHER OF GRAINYHEAD; BOM;; TRANSCRIPTION FACTOR CP2-LIKE 3; TFCP2L3
Asterisk 608577 CHURCHILL DOMAIN-CONTAINING 1; CHURC1 CHURCHILL; CHCH;; CHROMOSOME 14 OPEN READING FRAME 52; C14ORF52
Caret 608578 MOVED TO 243310
Number Sign 608579 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO, INCLUDED;; STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO, INCLUDED;; HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO, INCLUDED
NULL 608580 MYOSIN, HEAVY CHAIN 16, SKELETAL MUSCLE, PSEUDOGENE; MYH16
Asterisk 608581 RP1-LIKE PROTEIN 1; RP1L1
Asterisk 608582 EPIDERMAL GROWTH FACTOR-LIKE 7; EGFL7 VASCULAR ENDOTHELIAL STATIN;; VE-STATIN
Percent 608583 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1 ATRIAL FIBRILLATION, AUTOSOMAL DOMINANT
Number Sign 608584 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 ASRT2
Percent 608585 BRACHIAL PALSY, FAMILIAL CONGENITAL
Percent 608586 KERATOCONUS 3; KTCN3
Asterisk 608587 LGP1, MOUSE, HOMOLOG OF LGP1;; D11LGP1
Asterisk 608588 DEXH BOX POLYPEPTIDE 58; DHX58 LGP2, MOUSE, HOMOLOG OF; LGP2;; D11LGP2
Asterisk 608589 SLAM FAMILY, MEMBER 9; SLAMF9 CD2 FAMILY, MEMBER 10; CD2F10
Caret 608590 MOVED TO 608358
Caret 608591 MOVED TO 614436
Asterisk 608592 CTD SMALL PHOSPHATASE-LIKE; CTDSPL CTDSP-LIKE;; SMALL CTD PHOSPHATASE 3; SCP3;; HYA22;; RBSP3
Asterisk 608593 COMPLEMENT FACTOR H-RELATED 5; CFHR5 FACTOR H-RELATED GENE 5; FHR5;; CFHL5
Number Sign 608594 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 1; BSCL1;; LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 1;; BRUNZELL SYNDROME, AGPAT2-RELATED
Asterisk 608595 NEUROPEPTIDE S RECEPTOR 1; NPSR1 G PROTEIN-COUPLED RECEPTOR 154; GPR154;; G PROTEIN-COUPLED RECEPTOR FOR ASTHMA SUSCEPTIBILITY; GPRA;; VASOPRESSIN RECEPTOR-RELATED RECEPTOR 1; VRR1;; PGR14
Asterisk 608596 ASTHMA-ASSOCIATED ALTERNATIVELY SPLICED GENE 1 AAA1
Asterisk 608597 NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 2; NEURL2 NEURALIZED-LIKE 2;; OZZ
Asterisk 608598 CANCER SUSCEPTIBILITY CANDIDATE 2; CASC2
Asterisk 608599 RAB11 FAMILY-INTERACTING PROTEIN 2; RAB11FIP2 KIAA0941
Percent 608600 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1; FPLD1 LIPODYSTROPHY, FAMILIAL PARTIAL, KOBBERLING TYPE
Asterisk 608601 FIBROSIN 1; FBS1
Asterisk 608602 NUCLEAR BODY PROTEIN SP140; SP140 SPECKLED, 140-KD;; LYMPHOID-RESTRICTED SP100 HOMOLOG; LYSP100
Asterisk 608603 GLIOMEDIN; GLDN CANCER-RELATED GENE, LIVER, 2; CRGL2
Asterisk 608604 RETINOL-BINDING PROTEIN 7; RBP7 CELLULAR RETINOL-BINDING PROTEIN 4; CRBP4;; CRBPIV
Asterisk 608605 OLIGOSACCHARYLTRANSFERASE COMPLEX, CATALYTIC SUBUNIT STT3B; STT3B STT3, S. CEREVISIAE, HOMOLOG OF, B;; SOURCE OF IMMUNODOMINANT MAJOR HISTOCOMPATIBILITY COMPLEX-ASSOCIATED PEPTIDES;; SOURCE OF IMMUNODOMINANT MHC-ASSOCIATED PEPTIDES; SIMP
Asterisk 608606 BASIC HELIX-LOOP-HELIX FAMILY, MEMBER A15; BHLHA15 BASIC HELIX-LOOP-HELIX PROTEIN MIST1; MIST1
Asterisk 608607 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 12; NBPF12 CHROMOSOME 1 AMPLIFIED SEQUENCE 1; COAS1;; KIAA1245
Asterisk 608608 PEPTIDYL-PROLYL ISOMERASE A-LIKE PROTEIN 4E; PPIAL4E PPIA-LIKE PROTEIN 4E;; CYCLOPHILIN A-LIKE PROTEIN 4E;; CHROMOSOME 1 AMPLIFIED SEQUENCE 2;; COAS2
Asterisk 608609 CHROMOSOME 1 OPEN READING FRAME 152; C1ORF152 CHROMOSOME 1 AMPLIFIED SEQUENCE 3; COAS3
Asterisk 608610 PROGRAMMED CELL DEATH 4; PDCD4 NEOPLASTIC TRANSFORMATION INHIBITOR
Number Sign 608611 RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
Number Sign 608612 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB LIPODYSTROPHY, TYPE B, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA
Asterisk 608613 TRANSCRIPTION FACTOR Sp6; SP6 KRUPPEL-LIKE FACTOR 14; KLF14;; EPIPROFIN; EPFN
Asterisk 608614 CYTOCHROME P450, FAMILY 4, SUBFAMILY V, POLYPEPTIDE 2; CYP4V2
Number Sign 608615 OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS TOOTH AGENESIS-COLORECTAL CANCER SYNDROME
Asterisk 608616 OBSCURIN; OBSCN KIAA1556;; KIAA1639 OBSCURIN-RHOGEF, INCLUDED;; OBSCURIN-MLCK, INCLUDED
Asterisk 608617 FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER B; FAM3B
Asterisk 608618 FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER C; FAM3C
Asterisk 608619 FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER D; FAM3D
Caret 608620 MOVED TO 605232
Asterisk 608621 SPERM AUTOANTIGENIC PROTEIN 17; SPA17 SP17
Number Sign 608622 HYPERTENSION, DIASTOLIC, RESISTANCE TO
Caret 608623 MOVED TO 276300
NULL 608624 MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA
Asterisk 608625 PEPTIDYL-tRNA HYDROLASE 2; PTRH2 BCL2 INHIBITOR OF TRANSCRIPTION 1; BIT1
Asterisk 608626 STE20-RELATED KINASE ADAPTOR ALPHA; STRADA STE20-RELATED ADAPTOR PROTEIN; STRAD;; LYK5
Number Sign 608627 AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8
Asterisk 608628 TRANSDUCIN-BETA-LIKE 1 RECEPTOR 1; TBL1XR1 TBL1X RECEPTOR 1;; TBL1-RELATED PROTEIN 1; TBLR1;; IRA1, MOUSE, HOMOLOG OF; IRA1;; C21
Number Sign 608629 JOUBERT SYNDROME 3; JBTS3
Asterisk 608630 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 3; ROBO3 RB-INHIBITING GENE 1; RBIG1; RIG1
Percent 608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2; ASPG2
Asterisk 608632 MICRO RNA 196A1; MIR196A1 miRNA196A1;; MIRN196A1
Asterisk 608633 CASPASE 12, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP12 CASP12P1
Number Sign 608634 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B HMN IIB;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; DHMN2B
Asterisk 608635 ARFGAP WITH DUAL PLECKSTRIN HOMOLOGY DOMAINS 2; ADAP2 CENTAURIN, ALPHA-2; CENTA2
Number Sign 608636 CHROMOSOME 15q11-q13 DUPLICATION SYNDROME DUPLICATION 15q11-q13 SYNDROME AUTISM, SUSCEPTIBILITY TO, 4, INCLUDED; AUTS4, INCLUDED;; CHROMOSOME 15q11.2 DUPLICATION SYNDROME, INCLUDED
Caret 608637 MOVED TO 143095
Percent 608638 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1; ASPG1
Asterisk 608639 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 8; PLEKHA8 PHOSPHATIDYLINOSITOL 4-PHOSPHATE ADAPTOR PROTEIN 2; FAPP2
Asterisk 608640 ZINC FINGER PROTEIN 461; ZNF461 GONADOTROPIN-INDUCIBLE TRANSCRIPTION REPRESSOR 1, RAT, HOMOLOG OF;; GIOT1, RAT, HOMOLOG OF; GIOT1
Number Sign 608641 DEAFNESS, AUTOSOMAL DOMINANT 28; DFNA28
Asterisk 608642 ZINC-BINDING ALCOHOL DEHYDROGENASE DOMAIN-CONTAINING PROTEIN 1; ZADH1
Number Sign 608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY AADC DEFICIENCY;; DOPA DECARBOXYLASE DEFICIENCY;; DDC DEFICIENCY
Number Sign 608644 CILIARY DYSKINESIA, PRIMARY, 3; CILD3 CILIARY DYSKINESIA, PRIMARY, 3, WITH OR WITHOUT SITUS INVERSUS
Percent 608645 DEAFNESS, AUTOSOMAL DOMINANT 31; DFNA31
Percent 608646 CILIARY DYSKINESIA, PRIMARY, 4; CILD4 CILIARY DYSKINESIA, PRIMARY, 4, WITH OR WITHOUT SITUS INVERSUS
Number Sign 608647 CILIARY DYSKINESIA, PRIMARY, 5; CILD5 CILIARY DYSKINESIA, PRIMARY, 5, WITHOUT SITUS INVERSUS
Asterisk 608648 SEC63, S. CEREVISIAE, HOMOLOG OF; SEC63
Number Sign 608649 ICHTHYOSIS PREMATURITY SYNDROME; IPS ICHTHYOSIS CONGENITA IV
Asterisk 608650 UNC51-LIKE KINASE 2; ULK2 KIAA0623;; UNC51.2
Asterisk 608651 ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 1; AGAP1 CENTAURIN, GAMMA-2; CENTG2;; KIAA1099 HUMAN-ACCELERATED CONSERVED NONCODING SEQUENCE 1, INCLUDED; HACNS1, INCLUDED
Percent 608652 DEAFNESS, AUTOSOMAL DOMINANT 47; DFNA47
Percent 608653 DEAFNESS, AUTOSOMAL RECESSIVE 32; DFNB32
Number Sign 608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5 HSAN V;; INSENSITIVITY TO PAIN, CONGENITAL
Asterisk 608655 GAP JUNCTION PROTEIN, GAMMA-1; GJC1 GAP JUNCTION PROTEIN, ALPHA-7; GJA7;; GAP JUNCTION PROTEIN, 45-KD;; CONNEXIN 45; CX45
Percent 608656 PROSTATE CANCER, HEREDITARY, 3 HPC3
Asterisk 608657 JUN DIMERIZATION PROTEIN 2; JDP2
Percent 608658 PROSTATE CANCER, HEREDITARY, 4 HPC4;; PROSTATE CANCER, HEREDITARY, ON CHROMOSOME 7
Asterisk 608659 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 8; SENP8 NEDD8-SPECIFIC PROTEASE 1; NEDP1;; DENEDDYLASE 1; DEN1
Asterisk 608660 INSULIN-INDUCED GENE 2; INSIG2
Asterisk 608661 PODOCAN; PODN
Asterisk 608662 ANOCTAMIN 5; ANO5 TRANSMEMBRANE PROTEIN 16E; TMEM16E;; GDD1 GENE; GDD1
Asterisk 608663 ANOCTAMIN 6; ANO6 TRANSMEMBRANE PROTEIN 16F; TMEM16F
Caret 608664 MOVED TO 210600
Asterisk 608665 PSMC3-INTERACTING PROTEIN; PSMC3IP TBP1-INTERACTING PROTEIN; TBPIP;; GT198;; HOP2, S. CEREVISIAE, HOMOLOG OF; HOP2
Asterisk 608666 PEROXISOME BIOGENESIS FACTOR 26; PEX26 PEROXIN 26
Asterisk 608667 NIPPED-B-LIKE; NIPBL NIPPED-B, DROSOPHILA, HOMOLOG OF;; DELANGIN;; SISTER CHROMATID COHESION 2, S. CEREVISIAE, HOMOLOG OF; SCC2
Asterisk 608668 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 11; ZMYND11 BS69 BONE MORPHOGENETIC PROTEIN RECEPTOR-ASSOCIATED MOLECULE 1, INCLUDED; BRAM1, INCLUDED
Asterisk 608669 BASONUCLIN 2; BNC2
NULL 608670 ROBIN SEQUENCE WITH DISTINCTIVE FACIAL APPEARANCE AND BRACHYDACTYLY
Asterisk 608671 DAZ-INTERACTING ZINC FINGER PROTEIN 1; DZIP1 DAZ-INTERACTING PROTEIN 1;; DZIP;; KIAA0996
Asterisk 608672 DAZ-INTERACTING ZINC FINGER PROTEIN 3; DZIP3 DAZ-INTERACTING PROTEIN 3;; KIAA0675
Number Sign 608673 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; CMT2L CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2L
Asterisk 608674 SH3 DOMAIN PROTEIN 19 SH3D19;; EEN-BINDING PROTEIN; EBP SH3D19/RUNX1 FUSION GENE, INCLUDED
Asterisk 608675 FUCOKINASE; FUK L-FUCOSE KINASE
Asterisk 608676 TAXILIN, ALPHA; TXLNA TXLN;; INTERLEUKIN 14; IL14
Asterisk 608677 MINDBOMB, DROSOPHILA, HOMOLOG OF, 1; MIB1 MIB;; DAPK-INTERACTING PROTEIN 1; DIP1;; KIAA1323
Asterisk 608678 INTERLEUKIN 33; IL33 NUCLEAR FACTOR FROM HIGH ENDOTHELIAL VENULES; NFHEV;; IL1F11;; CHROMOSOME 9 OPEN READING FRAME 26; C9ORF26
Asterisk 608679 TP53-REGULATING KINASE; TP53RK p53-RELATED PROTEIN KINASE; PRPK
Asterisk 608680 TP53RK-BINDING PROTEIN; TPRKB PRPK-BINDING PROTEIN;; CGI-121
Number Sign 608681 SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2
Asterisk 608682 ADRENOMEDULLIN 2; ADM2 AM2;; INTERMEDIN
Asterisk 608683 CYSTATIN 8; CST8 CYSTATIN-RELATED PROTEIN, EPIDIDYMIS-SPECIFIC; CRES
Asterisk 608684 NINEIN; NIN GSK3B-INTERACTING PROTEIN;; KIAA1565
Asterisk 608685 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1B; SMC1B STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 2; SMC1L2;; SMC1-BETA
Asterisk 608686 RAB3A-INTERACTING PROTEIN; RAB3IP RABIN8;; RABIN3, RAT, HOMOLOG OF; RABIN3
Number Sign 608687 SPINOCEREBELLAR ATAXIA 20; SCA20 CHROMOSOME 11q12 DUPLICATION SYNDROME, 260-KB;; SPINOCEREBELLAR ATAXIA WITH DYSPHONIA;; SPINOCEREBELLAR ATAXIA WITH SPASMODIC COUGH
Number Sign 608688 AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY ATIC DEFICIENCY;; AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
Asterisk 608689 MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 1; MESP1 MESODERM POSTERIOR PROTEIN 1
Asterisk 608690 SSX2-INTERACTING PROTEIN; SSX2IP AFADIN DIL DOMAIN-INTERACTING PROTEIN; ADIP;; KIAA0923
Percent 608691 MAJOR DEPRESSIVE DISORDER 2 MDD2;; UNIPOLAR DEPRESSION 2
Asterisk 608692 BASIC LEUCINE ZIPPER NUCLEAR FACTOR 1; BLZF1 JEM1;; GOLGIN 45
Asterisk 608693 GOLGI REASSEMBLY STACKING PROTEIN 2; GORASP2 GOLGI REASSEMBLY STACKING PROTEIN, 55-KD; GRASP55
Asterisk 608694 ZINC FINGER PROTEIN 622; ZNF622 ZPR9
Percent 608695 GLAUCOMA 1, OPEN ANGLE, J; GLC1J GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 2; JOAG2
Percent 608696 GLAUCOMA 1, OPEN ANGLE, K; GLC1K GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 3; JOAG3
Asterisk 608697 FACTOR IN GERMLINE ALPHA, MOUSE, HOMOLOG OF; FIGLA FOLLICULOGENESIS-SPECIFIC BASIC HELIX-LOOP-HELIX
Asterisk 608698 DISCOIDIN, CUB, AND LCCL DOMAIN-CONTAINING PROTEIN 2; DCBLD2 ENDOTHELIAL AND SMOOTH MUSCLE CELL-DERIVED NEUROPILIN-LIKE PROTEIN; ESDN
Asterisk 608699 BONE MORPHOGENETIC PROTEIN-BINDING ENDOTHELIAL REGULATOR PROTEIN; BMPER BMP-BINDING ENDOTHELIAL CELL PRECURSOR-DERIVED REGULATOR;; CROSSVEINLESS 2, DROSOPHILA, HOMOLOG OF; CV2
Asterisk 608700 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 1; NMNAT1 NMNAT;; PYRIDINE NUCLEOTIDE ADENYLYLTRANSFERASE 1; PNAT1
Asterisk 608701 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 2; NMNAT2 PYRIDINE NUCLEOTIDE ADENYLYLTRANSFERASE 2; PNAT2;; KIAA0479
Asterisk 608702 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 3; NMNAT3 PYRIDINE NUCLEOTIDE ADENYLYLTRANSFERASE 3; PNAT3
Percent 608703 SPINOCEREBELLAR ATAXIA 25; SCA25
Asterisk 608704 NICOTINAMIDE RIBOSIDE KINASE 1 NRK1;; CHROMOSOME 9 OPEN READING FRAME 95; C9ORF95
Asterisk 608705 INTEGRIN, BETA-1, BINDING PROTEIN OF, 3; ITGB1BP3 MUSCLE INTEGRIN-BINDING PROTEIN; MIBP NICOTINAMIDE RIBOSIDE KINASE 2, INCLUDED; NRK2, INCLUDED
Asterisk 608706 DYNEIN, AXONEMAL, ASSEMBLY FACTOR 4; DNAAF4 DYX1C1 GENE; DYX1C1;; DYXC1;; EKN1
Asterisk 608707 CELL ADHESION MOLECULE-RELATED/DOWNREGULATED BY ONCOGENES; CDON CDO
Asterisk 608708 BROTHER OF CDON; BOC BROTHER OF CDO
Number Sign 608709 LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD APLD, SUSCEPTIBILITY TO;; BARRAQUER-SIMONS SYNDROME;; LIPODYSTROPHY, CEPHALOTHORACIC TYPE;; LIPODYSTROPHY, PARTIAL, PROGRESSIVE
Percent 608710 WEGENER GRANULOMATOSIS WG;; GRANULOMATOSIS WITH POLYANGIITIS
Asterisk 608711 CTD SMALL PHOSPHATASE 2; CTDSP2 SMALL CTD PHOSPHATASE 2; SCP2;; CONSERVED GENE AMPLIFIED IN OSTEOSARCOMA 4; OS4
Asterisk 608712 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, T; PTPRT RPTP-RHO;; KIAA0283
Asterisk 608713 CYTOCHROME P450, SUBFAMILY IIR, POLYPEPTIDE 1; CYP2R1
Asterisk 608714 SYNTROPHIN, GAMMA-1; SNTG1 SYN4
Asterisk 608715 SYNTROPHIN, GAMMA-2; SNTG2 SYN5
Number Sign 608716 MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5
Asterisk 608717 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 13; LGALS13 GALECTIN 13; GAL13;; PLACENTAL PROTEIN 13; PP13
Asterisk 608718 KERATIN-ASSOCIATED PROTEIN 13-1; KRTAP13-1 KAP13.1
Asterisk 608719 TR4-ASSOCIATED PROTEIN, 16-KD TRA16
NULL 608720 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA
Asterisk 608721 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II INHIBITOR 2; CAMK2N2 CAMKII INHIBITORY PROTEIN; CAMKIIN;; CAMKIIN-BETA
Asterisk 608722 CAPPING PROTEIN, ALPHA-3; CAPZA3 CAP PROTEIN, ACTIN, ALPHA-3 SUBUNIT; CAPPA3;; CP-ALPHA-3
Asterisk 608723 PHOSPHATASE AND ACTIN REGULATOR 1; PHACTR1 KIAA1733
Asterisk 608724 PHOSPHATASE AND ACTIN REGULATOR 2; PHACTR2 KIAA0680
Asterisk 608725 PHOSPHATASE AND ACTIN REGULATOR 3; PHACTR3 SCAFFOLD-ASSOCIATED PROTEIN PHOSPHATASE 1-INHIBITING PROTEIN; SCAPININ
Asterisk 608726 PHOSPHATASE AND ACTIN REGULATOR 4; PHACTR4
Asterisk 608727 DE-ETIOLATED 1, ARABIDOPSIS, HOMOLOG OF; DET1
Number Sign 608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED SEMD, MATN3-RELATED
Asterisk 608729 ANGIOTENSIN II RECEPTOR-ASSOCIATED PROTEIN; AGTRAP ATRAP
Asterisk 608730 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 5; SLC39A5
Asterisk 608731 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 6; SLC39A6 LIV1
Asterisk 608732 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 8; SLC39A8 BIGM103;; ZIP8
Asterisk 608733 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 10; SLC39A10 KIAA1265
Asterisk 608734 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 12; SLC39A12 ZRT- AND IRT-LIKE PROTEIN 12; ZIP12
Asterisk 608735 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 13; SLC39A13 ZIP13;; LZT-HS9
Asterisk 608736 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 14; SLC39A14 ZIP14;; KIAA0062
Asterisk 608737 RAB11 FAMILY-INTERACTING PROTEIN 1; RAB11FIP1 RAB-COUPLING PROTEIN, INCLUDED; RCP, INCLUDED
Asterisk 608738 RAB11 FAMILY-INTERACTING PROTEIN 3; RAB11FIP3 EF-HANDS-CONTAINING RAB-INTERACTING PROTEIN; EFERIN;; KIAA0665
Asterisk 608739 EXORIBONUCLEASE 1; ERI1 HISTONE mRNA 3-PRIME END-SPECIFIC EXORIBONUCLEASE; HEXO
Asterisk 608740 NFAT ACTIVATING PROTEIN WITH ITAM MOTIF 1; NFAM1 NFAT ACTIVATION MOLECULE 1;; CALCINEURIN- AND NFAT-ACTIVATING ITAM-CONTAINING PROTEIN; CNAIP
Asterisk 608741 SYNAPTOTAGMIN 11; SYT11 KIAA0080
Percent 608742 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4 HYT4
Asterisk 608743 JP45, MOUSE, HOMOLOG OF JP45
Asterisk 608744 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 24; SLC25A24 SHORT CALCIUM-BINDING MITOCHONDRIAL CARRIER 1; SCAMC1
Asterisk 608745 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 25; SLC25A25 SHORT CALCIUM-BINDING MITOCHONDRIAL CARRIER 2; SCAMC2;; MITOCHONDRIAL CALCIUM-DEPENDENT SOLUTE CARRIER; MCSC;; KIAA1896
Asterisk 608746 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 23; SLC25A23 SHORT CALCIUM-BINDING MITOCHONDRIAL CARRIER 3; SCAMC3
Number Sign 608747 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY IGF1 DEFICIENCY;; GROWTH RETARDATION WITH SENSORINEURAL DEAFNESS AND MENTAL RETARDATION
Asterisk 608748 BONE MORPHOGENETIC PROTEIN 10; BMP10
Asterisk 608749 BROMODOMAIN-CONTAINING PROTEIN 4; BRD4 MITOTIC CHROMOSOME-ASSOCIATED PROTEIN; MCAP; CAP;; HUNK1 BRD4/NUT FUSION GENE, INCLUDED
Asterisk 608750 ALG3, S. CEREVISIAE, HOMOLOG OF; ALG3 NOT56-LIKE PROTEIN; NOT56L
Number Sign 608751 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8 CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 1
Asterisk 608752 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 5; C1QTNF5 CTRP5
Asterisk 608753 tRNA SPLICING ENDONUCLEASE 2, S. CEREVISIAE, HOMOLOG OF; TSEN2 SEN2, YEAST, HOMOLOG OF; SEN2
Asterisk 608754 tRNA SPLICING ENDONUCLEASE 34, S. CEREVISIAE, HOMOLOG OF; TSEN34 LEUKOCYTE RECEPTOR CLUSTER GENE 5; LENG5;; SEN34, YEAST, HOMOLOG OF; SEN34
Asterisk 608755 tRNA SPLICING ENDONUCLEASE 54, S. CEREVISIAE, HOMOLOG OF; TSEN54 SEN54, YEAST, HOMOLOG OF; SEN54
Asterisk 608756 tRNA SPLICING ENDONUCLEASE 15, S. CEREVISIAE, HOMOLOG OF; TSEN15 SEN15, YEAST, HOMOLOG OF; SEN15;; CHROMOSOME 1 OPEN READING FRAME 19; C1ORF19
Asterisk 608757 CLEAVAGE AND POLYADENYLATION FACTOR I SUBUNIT 1, YEAST, HOMOLOG OF; CLP1 CLP1, YEAST, HOMOLOG OF; HEAB HEAB/AF10 FUSION GENE, INCLUDED
Number Sign 608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10 CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2
Asterisk 608759 CYTOGLOBIN; CYGB HISTOGLOBIN; HGB;; STELLATE CELL ACTIVATION-ASSOCIATED PROTEIN; STAP
Asterisk 608760 AUTOPHAGY 7, S. CEREVISIAE, HOMOLOG OF; ATG7 APG7, S. CEREVISIAE, HOMOLOG OF, APG7;; APG7-LIKE; APG7L;; GSA7
Asterisk 608761 SOLUTE CARRIER FAMILY 5 (CHOLINE TRANSPORTER), MEMBER 7; SLC5A7 CHOLINE TRANSPORTER; CHT; CHT1
Percent 608762 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3; EIG3 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 9
NULL 608763 EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE EHLERS-DANLOS SYNDROME WITH MENTAL RETARDATION, DEAFNESS, AND CATARACT
Asterisk 608764 NICOTINAMIDE PHOSPHORIBOSYLTRANSFERASE; NAMPT PRE-B-CELL COLONY-ENHANCING FACTOR 1; PBEF1;; PBEF;; VISFATIN; VF
Percent 608765 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3; IS3
Asterisk 608766 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1B; LRP1B LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN DELETED IN TUMORS; LRPDIT
Asterisk 608767 FEM1, C. ELEGANS, HOMOLOG OF, C; FEM1C KIAA1785
Number Sign 608768 SPINOCEREBELLAR ATAXIA 8; SCA8
Asterisk 608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX PDX1;; PYRUVATE DEHYDROGENASE COMPLEX, E3-BINDING PROTEIN SUBUNIT; E3BP;; PYRUVATE DEHYDROGENASE COMPLEX, LIPOYL-CONTAINING COMPONENT X
Asterisk 608770 DIHYDROLIPOAMIDE S-ACETYLTRANSFERASE; DLAT PYRUVATE DEHYDROGENASE COMPLEX, E2 SUBUNIT; PDCE2;; M2 ANTIGEN COMPLEX, 70-KD SUBUNIT
Asterisk 608771 MEDIATOR COMPLEX SUBUNIT 13-LIKE; MED13L THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 2; THRAP2;; PROTEIN SIMILAR TO TRAP240; PROSIT240;; TRAP240-LIKE PROTEIN; TRAP240L;; KIAA1025
Asterisk 608772 INVASION INHIBITORY PROTEIN, 45-KD IIP45
Asterisk 608773 TUBULIN POLYMERIZATION-PROMOTING PROTEIN; TPPP p25;; p24
Plus 608774 ANKYRIN REPEAT AND KINASE DOMAIN CONTAINING 1; ANKK1 DOPAMINE RECEPTOR D2, REDUCED BRAIN DENSITY OF, INCLUDED
Asterisk 608775 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 1; HAUS1 COILED-COIL DOMAIN-CONTAINING PROTEIN 5; CCDC5;; HUMAN ENHANCER OF INVASION CLUSTER; HEIC
Number Sign 608776 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L CDG Il; CDGIl
Asterisk 608777 PERIOSTIN; POSTN PN;; OSTEOBLAST-SPECIFIC FACTOR 2; OSF2
Asterisk 608778 KELCH-LIKE 10; KLHL10
Number Sign 608779 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E CDG IIe; CDGIIe
Asterisk 608780 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 5; GTF2H5 TFIIH BASAL TRANSCRIPTION FACTOR COMPLEX, TTDA SUBUNIT; TTDA;; TFB5;; TRANSCRIPTION FACTOR IIH, 8-KD SUBUNIT;; CHROMOSOME 6 OPEN READING FRAME 175; C6ORF175
Percent 608781 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 3; ASPG3
Number Sign 608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD LACTIC ACIDEMIA WITH PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY
Asterisk 608783 SET AND MYND DOMAIN-CONTAINING PROTEIN 3; SMYD3
Asterisk 608784 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 8; ZDHHC8 ZNF378;; KIAA1292
Asterisk 608785 HTRA SERINE PEPTIDASE 3; HTRA3 HTRA, E. COLI, HOMOLOG OF, 3;; PREGNANCY-RELATED SERINE PROTEASE, MOUSE, HOMOLOG OF; PRSP
Asterisk 608786 PYRUVATE CARBOXYLASE; PC
Percent 608787 OTOSCLEROSIS 5; OTSC5
Asterisk 608788 SUPPRESSOR OF CYTOKINE SIGNALING 7; SOCS7 NCK-ASSOCIATED PROTEIN 4; NAP4;; NCK-, ASH-, AND PLCG-BINDING PROTEIN 4
Asterisk 608789 NCK-ASSOCIATED PROTEIN 5; NCKAP5 NAP5
Asterisk 608790 TRANSCRIPTIONAL ADAPTOR 2B; TADA2B ADA2, YEAST, HOMOLOG OF, BETA; ADA2B;; ADA2-BETA
Asterisk 608791 NUCLEOREDOXIN-LIKE PROTEIN 1; NXNL1 ROD-DERIVED CONE VIABILITY FACTOR; RDCVF;; THIOREDOXIN-LIKE 6, MOUSE, HOMOLOG OF; TXNL6;; LOC115861
Asterisk 608792 GIPC PDZ DOMAIN-CONTAINING FAMILY, MEMBER 3; GIPC3 GAIP C-TERMINUS-INTERACTING PROTEIN 3
Asterisk 608793 SPERM ANTIGEN WITH CALPONIN HOMOLOGY AND COILED-COIL DOMAINS 1; SPECC1 HCMOGT1;; NSP HCMOGT1/PDGFRB FUSION GENE, INCLUDED
Asterisk 608794 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 1; PITPNM1 DRES9;; PYK2 N-TERMINAL DOMAIN-INTERACTING RECEPTOR 2; NIR2;; RETINAL DEGENERATION GENE B, DROSOPHILA, HOMOLOG OF, ALPHA; RDGBA
Asterisk 608795 PHOSPHOLIPASE C, DELTA-3; PLCD3
Percent 608796 MOYAMOYA DISEASE 3; MYMY3
Asterisk 608797 MEI1, MOUSE, HOMOLOG OF MEI1
Asterisk 608798 GASDERMIN E; GSDME DFNA5 GENE; DFNA5;; INVERSELY CORRELATED WITH ESTROGEN RECEPTOR EXPRESSION 1; ICERE1
Number Sign 608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E CDG Ie; CDGIe
Number Sign 608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT
Asterisk 608801 GLUTARYL-CoA DEHYDROGENASE; GCDH
Asterisk 608802 L3MBT-LIKE; L3MBTL L3MBTL1;; L3MBT, DROSOPHILA, HOMOLOG OF, 1;; KIAA0681
Asterisk 608803 GAP JUNCTION PROTEIN, GAMMA-2; GJC2 GAP JUNCTION PROTEIN, ALPHA 12; GJA12;; GAP JUNCTION PROTEIN, 47-KD;; CONNEXIN 47; CX47;; CONNEXIN 46.6; CX46.6
Number Sign 608804 LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2 PELIZAEUS-MERZBACHER-LIKE DISEASE, 1; PMLD1
Number Sign 608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1 FEMORAL HEAD, AVASCULAR NECROSIS OF; ANFH;; FEMORAL HEAD, ASEPTIC NECROSIS OF;; ISCHEMIC NECROSIS OF FEMORAL HEAD;; OSTEONECROSIS OF FEMORAL HEAD
Asterisk 608806 N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE-LIKE 2 NAALADL2
Number Sign 608807 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J
Number Sign 608808 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1 D-TGA
NULL 608809 LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA; LACH
Number Sign 608810 MYOPATHY, MYOFIBRILLAR, 2; MFM2 MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED;; MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE;; ALPHA-B CRYSTALLINOPATHY;; MYOPATHY, MYOFIBRILLAR, WITH OR WITHOUT CATARACT AND/OR CARDIOMYOPATHY
NULL 608811 METAPHYSEAL UNDERMODELING, SPONDYLAR DYSPLASIA, AND OVERGROWTH
Number Sign 608812 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1; CRCS1 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 9;; COLORECTAL ADENOMA AND CANCER, SUSCEPTIBILITY TO
Asterisk 608813 DER1-LIKE DOMAIN FAMILY, MEMBER 1; DERL1 DEGRADATION IN ENDOPLASMIC RETICULUM 1, YEAST, HOMOLOG OF; DER1;; DERLIN 1
NULL 608814 LATERAL SEMICIRCULAR CANAL MALFORMATION, FAMILIAL, WITH EXTERNAL AND MIDDLE EAR ABNORMALITIES
Asterisk 608815 EF-HAND DOMAIN (C-TERMINAL)-CONTAINING PROTEIN 1; EFHC1 EF-HAND DOMAIN-CONTAINING PROTEIN 1;; MYOCLONIN 1
Percent 608816 MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3; EJM3
Asterisk 608817 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 4C; LRRC4C NETRIN-G1 LIGAND; NGL1;; KIAA1580
Asterisk 608818 NETRIN G1; NTNG1 LAMINET 1; LMNT1;; KIAA0976
Asterisk 608819 KERATIN-ASSOCIATED PROTEIN 1-1; KRTAP1-1 KAP1.1 KAP1.1A, INCLUDED;; KAP1.1B, INCLUDED;; KAP1.6, INCLUDED;; KAP1.7, INCLUDED;; B2A, INCLUDED
Asterisk 608820 KERATIN-ASSOCIATED PROTEIN 1-3; KRTAP1-3 KAP1.3 KAP1.2, INCLUDED;; KAP18.A, INCLUDED;; KAP18.B, INCLUDED;; KAP1.9, INCLUDED;; B2B, INCLUDED
Asterisk 608821 KERATIN-ASSOCIATED PROTEIN 1-4; KRTAP1-4 KAP1.4
Asterisk 608822 KERATIN-ASSOCIATED PROTEIN 1-5; KRTAP1-5 KAP1.5
Asterisk 608823 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 1; CGB1
Asterisk 608824 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 2; CGB2
Asterisk 608825 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 5; CGB5
Asterisk 608826 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 7; CGB7 CGB6, INCLUDED
Asterisk 608827 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 8; CGB8
Asterisk 608828 RIBONUCLEASE III, NUCLEAR; RNASEN DROSHA, DROSOPHILA, HOMOLOG OF; DROSHA;; RNASE3L;; RN3
Asterisk 608829 SMALL UBIQUITIN-LIKE MODIFIER 4; SUMO4
Asterisk 608830 RETINOL DEHYDROGENASE 12; RDH12 RETINOL DEHYDROGENASE, ALL-TRANS AND 9-CIS
Percent 608831 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 2; RLS2
Asterisk 608832 GREMLIN 2 HOMOLOG, CYSTINE KNOT SUPERFAMILY; GREM2 PROTEIN RELATED TO DAN AND CERBERUS; PRDC
Asterisk 608833 REGULATOR OF TELOMERE ELONGATION HELICASE 1; RTEL1 NOVEL HELICASE-LIKE PROTEIN; NHL;; REGULATOR OF TELOMERE LENGTH; RTEL;; TELOMERE LENGTH REGULATOR;; KIAA1088;; CHROMOSOME 20 OPEN READING FRAME 41; C20ORF41
Asterisk 608834 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 2; CREB3L2 BBF2H7 CREB3L2/FUS FUSION GENE, INCLUDED
Asterisk 608835 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 13; ABCC13
Number Sign 608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL;; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL;; CPT II DEFICIENCY, LETHAL NEONATAL;; CPT2 DEFICIENCY, LETHAL NEONATAL
Number Sign 608837 CARNEY COMPLEX VARIANT
Asterisk 608838 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1-LIKE 1; VKORC1L1
Asterisk 608839 CALPAIN 12; CAPN12
Number Sign 608840 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED;; MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D; MDC1D
Asterisk 608841 COMPLEMENT COMPONENT 3- AND PREGNANCY ZONE PROTEIN-LIKE ALPHA-2-MACROGLOBULIN DOMAIN-CONTAINING PROTEIN 8; CPAMD8 C3- AND PZP-LIKE A2M DOMAIN-CONTAINING PROTEIN 8;; KIAA1283
Asterisk 608842 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 1; CHCHD1
Asterisk 608843 VASORIN
Asterisk 608844 ENDONUCLEASE VIII-LIKE 1; NEIL1 NEI1;; FPG1
Asterisk 608845 ADP-RIBOSYLATION FACTOR-LIKE 6; ARL6 ARF-LIKE 6;; BBS3 GENE
Asterisk 608846 CARNITINE PALMITOYLTRANSFERASE IC; CPT1C CARNITINE PALMITOYLTRANSFERASE-I RELATED C;; CARNITINE PALMITOYLTRANSFERASE I, BRAIN
Asterisk 608847 FERRITIN, MITOCHONDRIAL; FTMT MITOCHONDRIAL FERRITIN; MTF
Asterisk 608848 TRANSDUCER OF CDC42-DEPENDENT ACTIN ASSEMBLY 1 TOCA1;; CHROMOSOME 1 OPEN READING FRAME 39; C1ORF39
Asterisk 608849 U2AF HOMOLOGY MOTIF KINASE 1; UHMK1 KINASE-INTERACTING STATHMIN; KIS
Percent 608850 MACULAR DYSTROPHY, RETINAL, 3; MCDR3
Asterisk 608851 5-PRIME,3-PRIME-EXORIBONUCLEASE 2; XRN2 DHM1-LIKE PROTEIN
Percent 608852 PULMONARY FUNCTION PLF;; LUNG FUNCTION, ACCELERATED RATE OF DECLINE IN, SMOKING-RELATED
Asterisk 608853 BH3-LIKE MOTIF-CONTAINING CELL DEATH INDUCER; BLID BREAST CANCER CELL 2; BRCC2
Asterisk 608854 OXIDORED-NITRO DOMAIN-CONTAINING PROTEIN 1 NOR1
Asterisk 608855 TWEETY, DROSOPHILA, HOMOLOG OF, 2; TTYH2
Asterisk 608856 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 1; CTAGE1 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 2, INCLUDED; CTAGE2, INCLUDED
Asterisk 608857 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 3; CTAGE3
Asterisk 608858 FIBROBLAST GROWTH FACTOR RECEPTOR 1 ONCOGENE PARTNER 2; FGFR1OP2 FGFR1OP2/FGFR1 FUSION GENE, INCLUDED
Asterisk 608859 CD109 ANTIGEN; CD109 PLATELET-SPECIFIC ANTIGEN SYSTEM GOV, INCLUDED
Asterisk 608860 ASTACIN-LIKE METALLOENDOPEPTIDASE; ASTL OVASTACIN
Asterisk 608861 ATPase, H+ TRANSPORTING, LYSOSOMAL, 50/57-KD, V1 SUBUNIT H; ATP6V1H NEF-BINDING PROTEIN 1; NBP1;; VMA13, S. CEREVISIAE, HOMOLOG OF; VMA13
Asterisk 608862 NAD(P)HX EPIMERASE; NAXE APOLIPOPROTEIN A-I-BINDING PROTEIN; APOA1BP;; APOA-I-BINDING PROTEIN; AIBP;; APOA1-BINDING PROTEIN
Asterisk 608863 PODOPLANIN; PDPN T1-ALPHA GENE; T1A;; T1A2;; GLYCOPROTEIN, 36-KD; GP36;; OTS8;; AGGRUS
Number Sign 608864 OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 6
Asterisk 608865 URB1 RIBOSOME BIOGENESIS 1, S. CEREVISIAE, HOMOLOG OF; URB1 NPA1, YEAST, HOMOLOG OF; NPA1;; CHROMOSOME 21 OPEN READING FRAME 108; C21ORF108;; KIAA0539
Asterisk 608866 FRAGILE SITE, FOLIC ACID-TYPE, RARE, FRA(10)(q23.3), CANDIDATE GENE 1; FRA10AC1 FRA10A, CANDIDATE GENE 1;; CHROMOSOME 10 OPEN READING FRAME 4; C10ORF4 FRAGILE SITE, FOLIC ACID-TYPE, RARE, FRA(10)(q23.3), INCLUDED; FRA10A, INCLUDED;; FRAGILE SITE 10q23.3, INCLUDED
Asterisk 608867 DUAL-SPECIFICITY PHOSPHATASE 10; DUSP10 MAP KINASE PHOSPHATASE 5; MKP5
Asterisk 608868 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN 1; LRIG1 LIG1
Asterisk 608869 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN 2; LRIG2 LIG2;; KIAA0806
Asterisk 608870 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN 3; LRIG3 LIG3
Asterisk 608871 NIPSNAP, C. ELEGANS, HOMOLOG OF, 3A; NIPSNAP3A NIPSNAP4;; TARGET FOR SALMONELLA SECRETED PROTEIN C; TASSC
Asterisk 608872 NIPSNAP, C. ELEGANS, HOMOLOG OF, 3B; NIPSNAP3B NIPSNAP3
Asterisk 608873 SEMAPHORIN 6B; SEMA6B
Number Sign 608874 OROFACIAL CLEFT 5; OFC5 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 5
Percent 608875 GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14 GEVQ1
Asterisk 608876 PCF11, YEAST, HOMOLOG OF PCF11;; KIAA0824
Asterisk 608877 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, D; VPS13D
Percent 608878 GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20 GEVQ2
Asterisk 608879 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, C; VPS13C KIAA1421
Asterisk 608880 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 16; ZFYVE16 ENDOSOME-ASSOCIATED FYVE DOMAIN PROTEIN; ENDOFIN;; KIAA0305
Asterisk 608881 MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING, 2; MICAL2 FLAVOPROTEIN OXIDOREDUCTASE MICAL2;; KIAA0750
Asterisk 608882 MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING, 3; MICAL3 FLAVOPROTEIN OXIDOREDUCTASE MICAL3;; KIAA1364
Caret 608883 MOVED TO 137030
Asterisk 608884 RAL GTPase-ACTIVATING PROTEIN, ALPHA SUBUNIT 1; RALGAPA1 TUBERIN-LIKE PROTEIN 1; TULIP1;; GAP-RELATED INTERACTING PROTEIN TO E12; GRIPE;; KIAA0884;; GTPase-ACTIVATING RAP/RAN-GAP DOMAIN-LIKE 1; GARNL1
Number Sign 608885 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS;; CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY
Asterisk 608886 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, BETA; PPARGC1B PPAR-GAMMA COACTIVATOR 1-BETA; PGC1B;; PGC1-BETA;; PGC1-RELATED ESTROGEN RECEPTOR COACTIVATOR; PERC;; ESTROGEN RECEPTOR-RELATED RECEPTOR LIGAND 1; ERRL1
Asterisk 608887 PURINE-RICH ELEMENT-BINDING PROTEIN B; PURB PUR-BETA
Asterisk 608888 DEVELOPMENTALLY REGULATED RNA-BINDING PROTEIN 1 DRB1
Asterisk 608889 AMINOCARBOXYMUCONATE SEMIALDEHYDE DECARBOXYLASE; ACMSD
Number Sign 608890 WAARDENBURG SYNDROME, TYPE 2D; WS2D WAARDENBURG SYNDROME, TYPE IID
Asterisk 608891 ODD-SKIPPED-RELATED 1; OSR1 ODD-SKIPPED, DROSOPHILA, HOMOLOG OF; ODD
Asterisk 608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7 KIAA1416
Asterisk 608893 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 19; SLC6A19 SYSTEM B(0) NEUTRAL AMINO ACID TRANSPORTER 1
Asterisk 608894 ABELSON HELPER INTEGRATION SITE 1; AHI1 JOUBERIN
Number Sign 608895 NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD MACULAR DEGENERATION, AGE-RELATED, 3, INCLUDED; ARMD3, INCLUDED
Asterisk 608896 SARCOGLYCAN, GAMMA; SGCG DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 35-KD
Asterisk 608897 UNC13, C. ELEGANS, HOMOLOG OF, D; UNC13D MUNC13-4
Number Sign 608898 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 HPLH3;; HLH3
Asterisk 608899 GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 2, ALPHA GTF2IRD2A;; GTF2IRD2
Asterisk 608900 GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 2, BETA GTF2IRD2B
Number Sign 608901 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5 CHDS5;; CORONARY ARTERY DISEASE, EARLY-ONSET
Number Sign 608902 DRUG METABOLISM, POOR, CYP2D6-RELATED DRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED, INCLUDED;; DEBRISOQUINE, POOR METABOLISM OF, INCLUDED;; DEBRISOQUINE, ULTRARAPID METABOLISM OF, INCLUDED;; SPARTEINE, POOR METABOLISM OF, INCLUDED;; NORTRIPTYLINE, POOR METABOLISM OF, INCLUDED;; CODEINE, ULTRARAPID METABOLISM OF, INCLUDED
Percent 608903 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 1 ADHD1
Percent 608904 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 2 ADHD2
Percent 608905 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 3 ADHD3
Percent 608906 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 4 ADHD4
Number Sign 608907 ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9 ALZHEIMER DISEASE 9, LATE-ONSET
Number Sign 608908 MYOPIA 6; MYP6
Asterisk 608909 ADP-RIBOSYLATION FACTOR-LIKE 5B; ARL5B ADP-RIBOSYLATION FACTOR-LIKE 8; ARL8
Asterisk 608910 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 4; CTAGE4
Percent 608911 CHOANAL ATRESIA, POSTERIOR; PCA
Asterisk 608912 POTE ANKYRIN DOMAIN FAMILY, MEMBER B; POTEB PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME 15; POTE15
Asterisk 608913 POTE ANKYRIN DOMAIN FAMILY, MEMBER H; POTEH PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME 22; POTE22;; ACTIN, BETA-LIKE, 1; ACTBL1
Asterisk 608914 POTE ANKYRIN DOMAIN FAMILY, MEMBER E; POTEE PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME 1; POTE2;; POTE2-GAMMA
Asterisk 608915 POTE ANKYRIN DOMAIN FAMILY, MEMBER A; POTEA PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME 8; POTE8
Asterisk 608916 POTE ANKYRIN DOMAIN FAMILY, MEMBER G; POTEG PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME 14; POTE14
Asterisk 608917 ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 1; ATPAF1 ATP11, S. CEREVISIAE, HOMOLOG OF; ATP11
Asterisk 608918 ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 2; ATPAF2 ATP12, S. CEREVISIAE, HOMOLOG OF; ATP12
Asterisk 608919 TWEETY, DROSOPHILA, HOMOLOG OF, 3; TTYH3 KIAA1691
Asterisk 608920 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 2; PITPNM2 PYK2 N-TERMINAL DOMAIN-INTERACTING RECEPTOR 3; NIR3;; KIAA1457
Asterisk 608921 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 3; PITPNM3 PYK2 N-TERMINAL DOMAIN-INTERACTING RECEPTOR 1; NIR1;; ATYPICAL CHEMOKINE RECEPTOR 6; ACKR6
Asterisk 608922 ADP-RIBOSYLATION FACTOR-LIKE 13B; ARL13B ARL2-LIKE PROTEIN 1; ARL2L1
Asterisk 608923 TRACE AMINE-ASSOCIATED RECEPTOR 6; TAAR6 TRACE AMINE RECEPTOR 4; TRAR4
Asterisk 608924 FORKHEAD BOX P4; FOXP4
Asterisk 608925 MULTIMERIN 2; MMRN2 ENDOGLYX1
Asterisk 608926 EMI DOMAIN-CONTAINING PROTEIN 1; EMID1 EMU1
Asterisk 608927 EMI DOMAIN-CONTAINING PROTEIN 2; EMID2 EMU2;; COLLAGEN, TYPE XXVI, ALPHA-1; COL26A1
Asterisk 608928 ELASTIN MICROFIBRIL INTERFACER 2; EMILIN2
Asterisk 608929 ELASTIN MICROFIBRIL INTERFACER 3; EMILIN3
Number Sign 608930 MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B
Number Sign 608931 MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C MYASTHENIC SYNDROME, CONGENITAL, TYPE Id; CMS1D, FORMERLY;; CMS Id, FORMERLY;; MYASTHENIA, FAMILIAL INFANTILE, 1, FORMERLY; FIM1, FORMERLY
Percent 608932 KERATOCONUS 2; KTCN2
Asterisk 608933 ENDONUCLEASE VIII-LIKE 2; NEIL2 NEI2
Asterisk 608934 ENDONUCLEASE VIII-LIKE 3; NEIL3 NEI3;; FGP2
Percent 608935 LUNG CANCER SUSCEPTIBILITY 1; LNCR1
Asterisk 608936 PROLINE-RICH LACRIMAL PROTEIN 1; PROL1 PRL1;; BASIC PROLINE-RICH LACRIMAL PROTEIN; BPLP OPIORPHIN, INCLUDED
Asterisk 608937 SH2B ADAPTOR PROTEIN 1; SH2B1 SH2B, MOUSE, HOMOLOG OF; SH2B;; KIAA1299
Asterisk 608938 RIBOSOMAL PROTEIN S6 KINASE, 70-KD, 1; RPS6KB1 S6K1;; p70 S6 KINASE, ALPHA;; p70(S6K)-ALPHA;; p70-ALPHA
Asterisk 608939 RIBOSOMAL PROTEIN S6 KINASE, 70-KD, 2; RPS6KB2 S6K2;; p70 S6 KINASE, BETA;; p70(S6K)-BETA;; p70-BETA
Number Sign 608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD
Asterisk 608941 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-3; GNG3
Asterisk 608942 DYNEIN, LIGHT CHAIN, LC8 TYPE, 2; DYNLL2 DYNEIN LIGHT CHAIN 2; DLC2
Asterisk 608943 CYTOKINE-INDUCED APOPTOSIS INHIBITOR 1; CIAPIN1 ANAMORSIN
Asterisk 608944 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 1; FREM1 CHROMOSOME 9 OPEN READING FRAME 154; C9ORF154
Asterisk 608945 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2; FREM2
Asterisk 608946 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 3 FREM3
Asterisk 608947 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 13; KCTD13 POLYMERASE DELTA-INTERACTING PROTEIN 1; PDIP1; POLDIP1;; TNFAIP1-LIKE;; FKSG86
Asterisk 608948 ZIC FAMILY, MEMBER 4; ZIC4 ZINC FINGER PROTEIN OF CEREBELLUM 4
Asterisk 608949 GLYCOLIPID TRANSFER PROTEIN; GLTP
Asterisk 608950 MAGI2 INTRONIC TRANSCRIPT; MAGI2IT PLATELET RECEPTOR FOR TYPE III COLLAGEN, 47-KD; PR47;; PLATELET MEMBRANE PROTEIN, 47-KD
Asterisk 608951 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 6; CNOT6 CCR4, S. CEREVISIAE, HOMOLOG OF; CCR4;; KIAA1194
Asterisk 608952 REPLICATION TIMING REGULATORY FACTOR 1; RIF1 RAP1-INTERACTING FACTOR 1, YEAST, HOMOLOG OF
Asterisk 608953 TEKTIN 2; TEKT2 TEKTIN, TESTICULAR;; TEKTIN-T;; TEKTIN B1; TEKTB1
Asterisk 608954 MON1, S. CEREVISIAE, HOMOLOG OF, B; MON1B HSV-1 STIMULATION-RELATED GENE 1; HSRG1;; KIAA0872
Asterisk 608955 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 1; TTLL1 KIAA0173
Asterisk 608956 SOLUTE CARRIER FAMILY 46, MEMBER 2; SLC46A2 THYMIC STROMAL COTRANSPORTER; TSCOT
Number Sign 608957 CD8 DEFICIENCY, FAMILIAL
Asterisk 608958 ADENOSINE DEAMINASE; ADA ADENOSINE AMINOHYDROLASE
Asterisk 608959 DPH3, S. CEREVISIAE, HOMOLOG OF; DPH3 KTI11, S. CEREVISIAE, HOMOLOG OF; KTI11;; ZINC FINGER, CSL DOMAIN-CONTAINING 2; ZCSL2;; DEAFNESS LOCUS PUTATIVE GUANINE NUCLEOTIDE EXCHANGE FACTOR-INTERACTING PROTEIN 1; DELGIP1;; DELGEF-INTERACTING PROTEIN 1;; DESR1
Asterisk 608960 ADP-RIBOSYLATION FACTOR-LIKE 5A; ARL5A ADP-RIBOSYLATION FACTOR-LIKE 5; ARL5
Asterisk 608961 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 3; TRPM3 MELASTATIN 2; MLSN2;; LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 3; LTRPC3;; KIAA1616
Asterisk 608962 RHOMBOID-LIKE 2; RHBDL2
Asterisk 608963 NUCLEAR PROTEIN IN TESTIS NUT NUT/BRD4 FUSION GENE, INCLUDED
Asterisk 608964 TATA BOX-BINDING PROTEIN-LIKE PROTEIN 2; TBPL2 TPB-RELATED FACTOR 3; TRF3
Asterisk 608965 CALCIUM-BINDING PROTEIN 4; CABP4
Asterisk 608966 DAPPER, ANTAGONIST OF BETA-CATENIN, 2; DACT2 DAPPER, XENOPUS, HOMOLOG OF, 2; DPR2;; DAPPER2
Caret 608967 MOVED TO 609192
Asterisk 608968 V-MAF MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN B; MAFB KRML, MOUSE, HOMOLOG OF; KRML
Asterisk 608969 UTP14, S. CEREVISIAE, HOMOLOG OF, B UTP14B;; KIAA0266
Number Sign 608970 MACULAR DYSTROPHY, PATTERNED, 2; MDPT2 MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2
Number Sign 608971 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
Asterisk 608972 CREB-REGULATED TRANSCRIPTION COACTIVATOR 2; CRTC2 TRANSDUCER OF REGULATED cAMP RESPONSE ELEMENT-BINDING PROTEIN 2; TORC2;; TRANSDUCER OF REGULATED CREB 2
Asterisk 608973 SALT-INDUCIBLE KINASE 2; SIK2 SALT-INDUCIBLE SERINE/THREONINE KINASE 2;; SNF1-LIKE KINASE 2; SNF1LK2;; KIAA0781
Asterisk 608974 COMPLEMENT COMPONENT C1r-LIKE PROTEIN; C1RL C1r-LIKE SERINE PROTEASE ANALOG; CLSPA;; C1r-LIKE PROTEIN; C1RLP
Asterisk 608975 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, BETA; PARD6B PAR6-BETA
Asterisk 608976 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, GAMMA; PARD6G PAR6-GAMMA
Asterisk 608977 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 19; DNAJC19 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 14, YEAST, HOMOLOG OF; TIM14
Number Sign 608978 MEACHAM SYNDROME
Asterisk 608979 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1M; PPM1M PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1M;; PROTEIN PHOSPHATASE 2C, ETA ISOFORM; PP2CE;; PP2C-ETA
Number Sign 608980 BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR
Asterisk 608981 ACTIVIN A RECEPTOR, TYPE IC; ACVR1C ACTIVIN RECEPTOR-LIKE KINASE 7; ALK7
Percent 608982 STATURE QUANTITATIVE TRAIT LOCUS 5; STQTL5
Caret 608983 MOVED TO 115700
Number Sign 608984 ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 ADSA
Asterisk 608985 RING FINGER PROTEIN 2; RNF2 RING2;; RING1B;; HUNTINGTIN-INTERACTING PROTEIN 2-INTERACTING PROTEIN 3; HIPI3;; HIP2-INTERACTING PROTEIN 3;; DING;; BAP1
Asterisk 608986 CREB-REGULATED TRANSCRIPTION COACTIVATOR 3; CRTC3 TRANSDUCER OF REGULATED cAMP RESPONSE ELEMENT-BINDING PROTEIN 3; TORC3;; TRANSDUCER OF REGULATED CREB 3
Asterisk 608987 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT, ISOFORM 3; P4HA3 PROLYL 4-HYDROXYLASE, ALPHA-3 SUBUNIT
Percent 608988 ATRIAL FIBRILLATION, FAMILIAL, 2; ATFB2
Asterisk 608989 RETINAL DEHYDROGENASE, EPIDERMAL, 2 RDHE2;; EPIDERMAL RETINAL DEHYDROGENASE 2
Asterisk 608990 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 10; ADAMTS10
Asterisk 608991 MASTERMIND-LIKE 3; MAML3 MASTERMIND, DROSOPHILA, HOMOLOG OF, 2; MAM2;; KIAA1816
Asterisk 608992 B-CELL LYMPHOMA 6B; BCL6B BCL6-ASSOCIATED ZINC FINGER PROTEIN; BAZF
Asterisk 608993 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3F; APOBEC3F
Asterisk 608994 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 1A; ANKS1A ODIN;; KIAA0229
Percent 608995 DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8
Number Sign 608996 PREMATURE OVARIAN FAILURE 3; POF3
Caret 608997 MOVED TO 300512
Asterisk 608998 EARP COMPLEX AND GARP COMPLEX INTERACTING PROTEIN 1; EIPR1 TUMOR-SUPPRESSING SUBTRANSFERABLE FRAGMENT CANDIDATE GENE 1; TSSC1;; TUMOR-SUPPRESSING STF cDNA 1
Asterisk 608999 TUMOR-SUPPRESSING SUBTRANSFERABLE FRAGMENT CANDIDATE GENE 2; TSSC2 TUMOR-SUPPRESSING STF cDNA 2
Asterisk 609000 MONOOXYGENASE, DBH-LIKE, 1; MOXD1 MONOOXYGENASE X; MOX
Asterisk 609001 PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 2, GAMMA; PIK3C2G
Asterisk 609002 TEKTIN 1; TEKT1
Asterisk 609003 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 11; TTC11 FIS1, S. CEREVISIAE, HOMOLOG OF
Asterisk 609004 B-CELL CLL/LYMPHOMA 9-LIKE; BCL9L BCL9-2
Asterisk 609005 WD REPEAT-CONTAINING PROTEIN 17; WDR17
Number Sign 609006 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, INCLUDED
Asterisk 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2 DARDARIN
NULL 609008 MARFANOID HABITUS WITH SITUS INVERSUS
Asterisk 609009 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, THETA ISOFORM; YWHAQ 14-3-3 PROTEIN, T-CELL;; 14-3-3-THETA;; 14-3-3-TAU;; HS1
Asterisk 609010 3-METHYLCROTONYL-CoA CARBOXYLASE 1; MCCC1 3-METHYLCROTONYL-CoA CARBOXYLASE, ALPHA; MCCA;; 3-METHYLCROTONYL-CoA CARBOXYLASE, BIOTIN-CONTAINING SUBUNIT
Asterisk 609011 VASOHIBIN 1; VASH1 KIAA1036
Asterisk 609012 WD REPEAT-CONTAINING PROTEIN 5; WDR5 BMP2-INDUCED GENE, 3-KB; BIG3
Asterisk 609013 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 4C1; SLCO4C1 ORGANIC ANION TRANSPORTER 4C1; OATP4C1
Asterisk 609014 3-METHYLCROTONYL-CoA CARBOXYLASE 2; MCCC2 3-METHYLCROTONYL-CoA CARBOXYLASE, BETA; MCCB;; 3-METHYLCROTONYL-CoA CARBOXYLASE, NON-BIOTIN-CONTAINING SUBUNIT
Number Sign 609015 MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD TRIFUNCTIONAL PROTEIN DEFICIENCY TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY, INCLUDED
Number Sign 609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY LCHAD DEFICIENCY
Asterisk 609017 ERYTHROBLAST MEMBRANE-ASSOCIATED PROTEIN; ERMAP ERYTHROID MEMBRANE-ASSOCIATED PROTEIN;; ERYTHROCYTE MEMBRANE-ASSOCIATED PROTEIN
Asterisk 609018 HOLOCARBOXYLASE SYNTHETASE; HLCS HCS
Asterisk 609019 BIOTINIDASE; BTD
Asterisk 609020 FOLATE HYDROLASE 1B; FOLH1B PROSTATE-SPECIFIC MEMBRANE ANTIGEN-LIKE; PSMAL;; PSMA-LIKE;; GLUTAMATE CARBOXYPEPTIDASE III; GCP3
Percent 609021 PERIPHERAL CONE DYSTROPHY
Asterisk 609022 RAPAMYCIN-INSENSITIVE COMPANION OF MTOR; RICTOR AVO3, S. CEREVISIAE, HOMOLOG OF; AVO3;; KIAA1999
Asterisk 609023 MYOFIBRILLOGENESIS REGULATOR 1 MR1;; PNKD;; TRANSACTIVATED BY HEPATITIS C VIRUS CORE PROTEIN 2; TAHCCP2;; BRAIN PROTEIN 17, MOUSE, HOMOLOG OF; BRP17;; KIAA1184
Asterisk 609024 KDEL ENDOPLASMIC RETICULUM PROTEIN RETENTION RECEPTOR 2; KDELR2 ERD2-LIKE PROTEIN 1; ELP1;; ERD2.2
Asterisk 609025 KERATIN 75, TYPE II; KRT75 K75;; KB18;; KERATIN 6, HAIR FOLLICLE; K6HF
Percent 609026 CATARACT 28; CTRCT28 CATARACT, AGE-RELATED CORTICAL, 1; ARCC1
Number Sign 609027 BLOOD GROUP, INDIAN SYSTEM; IN INDIAN BLOOD GROUP SYSTEM; IN
Asterisk 609028 TRAF-INTERACTING PROTEIN WITH FORKHEAD-ASSOCIATED DOMAIN; TIFA TIFAA;; TRAF-INTERACTING PROTEIN WITH FHA DOMAIN;; TRAF2-BINDING PROTEIN; T2BP
Number Sign 609029 EMANUEL SYNDROME SUPERNUMERARY DER(22)t(11;22) SYNDROME
Asterisk 609030 DIGEORGE SYNDROME CRITICAL REGION GENE 8; DGCR8
Asterisk 609031 SERINE PROTEASE INHIBITOR-LIKE PROTEIN WITH KUNITZ AND WAP DOMAINS 1; SPINLW1 EPIDIDYMAL PROTEASE INHIBITOR; EPPIN;; WAP7
Asterisk 609032 FSHD REGION GENE 2; FRG2 FSHD GENE 2
Number Sign 609033 POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1 PCARP
Asterisk 609034 HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF-LIKE PROTEIN; HEYL HEY-LIKE PROTEIN
Asterisk 609035 RAS ASSOCIATION AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 1; RAPH1 LAMELLIPODIN; LPD;; KIAA1681
Asterisk 609036 APBB1-INTERACTING PROTEIN; APBB1IP RAP1-INTERACTING ADAPTOR MOLECULE; RIAM;; RETINOIC ACID-RESPONSIVE PROLINE-RICH PROTEIN 1; RARP1
NULL 609037 MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY, AND SHORT STATURE
Asterisk 609038 RHO FAMILY GTPase 1; RND1 RHO6
Percent 609039 NARCOLEPSY 3; NRCLP3
Number Sign 609040 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 9; ARVC9
Percent 609041 SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE; SPG27
Asterisk 609042 OPSIN 5; OPN5 NEUROPSIN;; G PROTEIN-COUPLED RECEPTOR 136; GPR136;; PGR12
Asterisk 609043 RELAXIN/INSULIN-LIKE FAMILY PEPTIDE RECEPTOR 4; RXFP4 RELAXIN 3 RECEPTOR 2; RLN3R2;; RLN3 RECEPTOR 2;; G PROTEIN-COUPLED RECEPTOR 100; GPR100;; G PROTEIN-COUPLED RECEPTOR 142; GPCR142
Asterisk 609044 FREE FATTY ACID RECEPTOR 4; FFAR4 G PROTEIN-COUPLED RECEPTOR 120; GPR120;; PGR4
Asterisk 609045 G PROTEIN-COUPLED RECEPTOR 141; GPR141 PGR13
Asterisk 609046 G PROTEIN-COUPLED RECEPTOR 142; GPR142 PGR2
NULL 609047 SKELETAL DYSPLASIA, RHIZOMELIC, WITH RETINITIS PIGMENTOSA
Number Sign 609048 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3
Number Sign 609049 PIERSON SYNDROME MICROCORIA-CONGENITAL NEPHROTIC SYNDROME
Asterisk 609050 METASTASIS-ASSOCIATED GENE 3; MTA3 KIAA1266
Asterisk 609051 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 8; CARD8 TUMOR-UPREGULATED CARD-CONTAINING ANTAGONIST OF CASP9; TUCAN;; CARD INHIBITOR OF NFKB-ACTIVATING LIGANDS; CARDINAL;; NDPP1;; KIAA0955
Percent 609052 SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4
Number Sign 609053 FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI
Number Sign 609054 FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ
Percent 609055 CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9
Number Sign 609056 SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS AMISH INFANTILE EPILEPSY SYNDROME;; EPILEPSY SYNDROME, INFANTILE-ONSET SYMPTOMATIC;; GM3 SYNTHASE DEFICIENCY;; SALT AND PEPPER MENTAL RETARDATION SYNDROME
Number Sign 609057 NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
Asterisk 609058 METHYLMALONYL-CoA MUTASE; MUT MCM;; METHYLMALONYL-CoA ISOMERASE
Asterisk 609059 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 2; PNPLA2 ADIPOSE TRIGLYCERIDE LIPASE; ATGL;; DESNUTRIN;; TRANSPORT-SECRETION PROTEIN 2; TTS2;; TTS2.2;; PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, ZETA;; IPLA2-ZETA
Number Sign 609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1 HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE
Asterisk 609061 ENABLED, DROSOPHILA, HOMOLOG OF; ENAH ENA;; MAMMALIAN ENABLED; MENA;; NDPP1
Asterisk 609062 POU DOMAIN, CLASS 6, TRANSCRIPTION FACTOR 2; POU6F2 RETINA-DERIVED POU-DOMAIN FACTOR 1; RPF1
Asterisk 609063 THIOREDOXIN 2; TXN2 TRX2;; THIOREDOXIN, MITOCHONDRIAL; MTRX
Asterisk 609064 CARNOSINE DIPEPTIDASE 1; CNDP1 CARNOSINASE 1; CN1;; CARNOSINASE, SERUM
Caret 609065 MOVED TO 605714
Asterisk 609066 AJUBA, MOUSE, HOMOLOG OF; JUB
Asterisk 609067 SCLERAXIS, MOUSE, HOMOLOG OF, A; SCXA SCLERAXIS; SCX
Asterisk 609068 DAN DOMAIN FAMILY, MEMBER 5; DAND5 CERBERUS, XENOPUS, HOMOLOG OF, 2; CER2;; CERBERUS-LIKE 2; CRL2; CERL2;; DANTE;; COCO
Number Sign 609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
Number Sign 609070 HEMOGLOBIN, HIGH ALTITUDE ADAPTATION; HALAH HEMOGLOBIN, HIGH OXYGEN SATURATION OF
Asterisk 609071 F-BOX AND WD40 DOMAIN PROTEIN 2; FBXW2 FBW2; FWD2
Asterisk 609072 F-BOX AND WD40 DOMAIN PROTEIN 5; FBXW5 FBW5
Asterisk 609073 F-BOX AND WD40 DOMAIN PROTEIN 8; FBXW8 FBW8;; FBXW6; FBW6;; FBXO29; FBX29
Asterisk 609074 F-BOX AND WD40 DOMAIN PROTEIN 9; FBXW9 FBW9
Asterisk 609075 F-BOX AND WD40 DOMAIN PROTEIN 12; FBXW12 FBW12;; FBXO35;; FBXO12
Asterisk 609076 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 6; FBXL6 FBL6;; FBL6A
Asterisk 609077 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 8; FBXL8 FBL8
Asterisk 609078 LYSINE-SPECIFIC DEMETHYLASE 2B; KDM2B F-BOX AND LEUCINE-RICH REPEAT PROTEIN 10; FBXL10;; FBL10;; CXXC FINGER PROTEIN 2; CXXC2;; JUMONJI C DOMAIN-CONTAINING HISTONE DEMETHYLASE 1B; JHDM1B
Asterisk 609079 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 12; FBXL12 FBL12
Asterisk 609080 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 13; FBXL13 FBL13
Asterisk 609081 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 14; FBXL14 FBL14
Asterisk 609082 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 16; FBXL16 FBL16;; CHROMOSOME 16 OPEN READING FRAME 22; C16ORF22
Asterisk 609083 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 17; FBXL17 FBL17;; FBXO13; FBX13
Asterisk 609084 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 18; FBXL18 FBL18
Asterisk 609085 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 19; FBXL19 FBL19
Asterisk 609086 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 20; FBXL20 FBL20;; FBL2;; SCRAPPER; SCR
Asterisk 609087 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 21; FBXL21 FBL21;; FBXL3B; FBL3B
Asterisk 609088 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 22; FBXL22 FBL22
Asterisk 609089 F-BOX ONLY PROTEIN 3; FBXO3 FBX3;; FBA
Asterisk 609090 F-BOX ONLY PROTEIN 4; FBXO4 FBX4
Asterisk 609091 F-BOX ONLY PROTEIN 9; FBXO9 FBX9;; NY-REN-57
Asterisk 609092 F-BOX ONLY PROTEIN 10; FBXO10 FBX10;; PROTEIN ARGININE METHYLTRANSFERASE 11; PRMT11
Asterisk 609093 F-BOX ONLY PROTEIN 15; FBXO15 FBX15
Asterisk 609094 F-BOX ONLY PROTEIN 17; FBXO17 FBX17;; FBXO26; FBX26;; FBG4
Asterisk 609095 F-BOX ONLY PROTEIN 21; FBXO21 FBX21;; KIAA0875
Asterisk 609096 F-BOX ONLY PROTEIN 22; FBXO22 FBX22
Asterisk 609097 F-BOX ONLY PROTEIN 24; FBXO24 FBX24
Asterisk 609098 F-BOX ONLY PROTEIN 25; FBXO25 FBX25
Asterisk 609099 F-BOX ONLY PROTEIN 27; FBXO27 FBX27;; FBG5
Asterisk 609100 F-BOX ONLY PROTEIN 28; FBXO28 FBX28;; KIAA0483
Asterisk 609101 F-BOX ONLY PROTEIN 30; FBXO30 FBX30
Asterisk 609102 F-BOX ONLY PROTEIN 31; FBXO31 FBX31;; FBXO14; FBX14
Asterisk 609103 F-BOX ONLY PROTEIN 33; FBXO33 FBX33
Asterisk 609104 F-BOX ONLY PROTEIN 34; FBXO34 FBX34
Asterisk 609105 F-BOX ONLY PROTEIN 36; FBXO36 FBX36
Asterisk 609106 F-BOX ONLY PROTEIN 39; FBXO39 FBX39
Asterisk 609107 F-BOX ONLY PROTEIN 40; FBXO40 FBX40;; KIAA1195
Asterisk 609108 F-BOX ONLY PROTEIN 41; FBXO41 FBX41;; KIAA1940
Asterisk 609109 F-BOX ONLY PROTEIN 42; FBXO42 FBX42;; KIAA1332;; JUST 1 F-BOX- AND KELCH DOMAIN-CONTAINING PROTEIN; JFK
Asterisk 609110 F-BOX ONLY PROTEIN 43; FBXO43 FBX43;; ENDOGENOUS MEIOTIC INHIBITOR 2, XENOPUS, HOMOLOG OF; EMI2;; ERP1, XENOPUS, HOMOLOG OF; ERP1
Asterisk 609111 F-BOX ONLY PROTEIN 44; FBXO44 FBX44;; FBX6A;; FBG3
Asterisk 609112 F-BOX ONLY PROTEIN 45; FBXO45 FBX45
Percent 609113 TELOMERE LENGTH, MEAN LEUKOCYTE; LTL TELM
Asterisk 609114 DESTRIN; DSTN ACTIN DEPOLYMERIZING FACTOR; ADF
Number Sign 609115 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G
Percent 609116 RESPIRATORY RHYTHMICITY IN SLEEP RRIS
Asterisk 609117 F-BOX ONLY PROTEIN 46; FBXO46 FBX46
Asterisk 609118 PROGRAMMED CELL DEATH 10; PDCD10 CCM3 GENE;; TFAR15
Asterisk 609119 THAP DOMAIN-CONTAINING PROTEIN 11; THAP11 RONIN
Asterisk 609120 CATION CHANNEL, SPERM-ASSOCIATED, 3; CATSPER3
Asterisk 609121 CATION CHANNEL, SPERM-ASSOCIATED, 4; CATSPER4
Percent 609122 ANEURYSM, INTRACRANIAL BERRY, 3; ANIB3
Asterisk 609123 ATPase, CLASS I, TYPE 8B, MEMBER 4; ATP8B4 KIAA1939
Asterisk 609124 ZINC FINGER PROTEIN 385A; ZNF385A ZINC FINGER PROTEIN 385; ZNF385;; RETINAL ZINC FINGER PROTEIN; RZF;; HEMATOPOIETIC ZINC FINGER PROTEIN; HZF
Asterisk 609125 MOTILE SPERM DOMAIN-CONTAINING PROTEIN 3; MOSPD3
Asterisk 609126 ATPase, CLASS II, TYPE 9A; ATP9A ATPase IIA; ATPIIA;; KIAA0611
Caret 609127 MOVED TO 300516
Percent 609128 ARTHROGRYPOSIS, DISTAL, TYPE 4; DA4 ARTHROGRYPOSIS WITH SEVERE SCOLIOSIS;; ARTHROGRYPOSIS, DISTAL, TYPE IID; DAIID
Number Sign 609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1 AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT; NSDAN
Asterisk 609130 APOPTOSIS-INDUCING, TAF9-LIKE DOMAIN 1; APITD1 CENTROMERIC PROTEIN S; CENPS;; FANCM-INTERACTING HISTONE-FOLD PROTEIN 1; MHF1
Asterisk 609131 CLAUDIN 7; CLDN7
Asterisk 609132 LYSINE-SPECIFIC DEMETHYLASE 1A; KDM1A LYSINE-SPECIFIC DEMETHYLASE 1; LSD1;; AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2;; BRAF35/HDAC COMPLEX, 110-KD SUBUNIT; BHC110;; KIAA0601
Asterisk 609133 FLT3-INTERACTING ZINC FINGER PROTEIN 1; FIZ1 FLJ14768
Asterisk 609134 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 2; UBR2 CHROMOSOME 6 OPEN READING FRAME 133; C6ORF133;; KIAA0349
Number Sign 609135 APLASTIC ANEMIA APLASTIC ANEMIA, SUSCEPTIBILITY TO, INCLUDED
Number Sign 609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH WAARDENBURG-SHAH SYNDROME, NEUROLOGIC VARIANT
Asterisk 609137 RECEPTOR-TRANSPORTING PROTEIN 1; RTP1
Asterisk 609138 RECEPTOR-TRANSPORTING PROTEIN 2; RTP2
Asterisk 609139 RECEPTOR EXPRESSION-ENHANCING PROTEIN 1; REEP1 CHROMOSOME 2 OPEN READING FRAME 23; C2ORF23
Number Sign 609140 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2
Number Sign 609141 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3
Asterisk 609142 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 3; CEACAM3 CGM1;; CD66D
Caret 609143 MOVED TO 607278
Asterisk 609144 FELINE LEUKEMIA VIRUS SUBGROUP C RECEPTOR 1; FLVCR1 FLVCR
Asterisk 609145 NEUROFASCIN; NFASC KIAA0756
Asterisk 609146 RIC8, C. ELEGANS, HOMOLOG OF, A; RIC8A SYNEMBRYN, C. ELEGANS, HOMOLOG OF, A
Asterisk 609147 RIC8, C. ELEGANS, HOMOLOG OF, B; RIC8B SYNEMBRYN, C. ELEGANS, HOMOLOG OF, B
Number Sign 609148 MALARIA, MILD, SUSCEPTIBILITY TO MALS
Asterisk 609149 SOLUTE CARRIER FAMILY 29 (MONOAMINE TRANSPORTER), MEMBER 4; SLC29A4 PLASMA MEMBRANE MONOAMINE TRANSPORTER; PMAT;; EQUILIBRATIVE NUCLEOSIDE TRANSPORTER 4; ENT4
Asterisk 609150 CXXC FINGER PROTEIN 1; CXXC1 CpG-BINDING PROTEIN; CGBP;; PROTEIN CONTAINING CXXC DOMAIN 1; PCCX1
Asterisk 609151 UBX DOMAIN PROTEIN 11; UBXN11 SOCIUS; SOC
Number Sign 609152 HYPERTHYROIDISM, NONAUTOIMMUNE HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE;; HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOSOMAL DOMINANT;; TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT
Number Sign 609153 PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK2 PSEUDOHYPERKALEMIA LILLE;; PSEUDOHYPERKALEMIA FALKIRK;; PSEUDOHYPERKALEMIA CHISWICK;; PSEUDOHYPERKALEMIA CARDIFF;; PSEUDOHYPERKALEMIA EAST LONDON;; CRYOHYDROCYTOSIS, MILD
Asterisk 609154 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 3; ASCL3 HUMAN ACHAETE-SCUTE HOMOLOG 3; HASH3;; SGN1
Asterisk 609155 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 4; ASCL4 HUMAN ACHAETE-SCUTE HOMOLOG 4; HASH4
Asterisk 609156 NICALIN, ZEBRAFISH, HOMOLOG OF; NCLN
Asterisk 609157 NODAL MODULATOR 1; NOMO1 PM5, TELOMERIC COPY
Asterisk 609158 NODAL MODULATOR 2; NOMO2 PM5, CENTROMERIC COPY
Asterisk 609159 NODAL MODULATOR 3; NOMO3 PM5, MIDDLE COPY
Caret 609160 MOVED TO 601419
Number Sign 609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1; ADSD1
Number Sign 609162 CZECH DYSPLASIA CZECH DYSPLASIA, METATARSAL TYPE;; PSEUDORHEUMATOID DYSPLASIA, PROGRESSIVE, WITH HYPOPLASTIC TOES;; SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
Asterisk 609163 HYDROXYCARBOXYLIC ACID RECEPTOR 2; HCAR2 HCA2;; G PROTEIN-COUPLED RECEPTOR 109A; GPR109A;; NIACIN RECEPTOR 1; NIACR1;; HM74A;; HM74B;; PROTEIN UPREGULATED IN MACROPHAGES BY IFNG, MOUSE, HOMOLOG OF; PUMAG
Percent 609164 UMBILICUS, FAMILIAL FLAT FLAT UMBILICUS, AUTOSOMAL DOMINANT
Number Sign 609165 ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR; CRIE ICHTHYOSIS WITH CONFETTI; IWC;; ICHTHYOSIS VARIEGATA ERYTHROKERATODERMA, RETICULAR, INCLUDED;; AARAU DISEASE, INCLUDED
Percent 609166 BRANCHIOGENIC-DEAFNESS SYNDROME
Caret 609167 MOVED TO 604379
Asterisk 609168 SHUGOSHIN-LIKE 1; SGOL1 SGO; SGO1
Asterisk 609169 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE, SPERMATOGENIC; GAPDHS GAPDS;; GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE, TESTIS-SPECIFIC;; GAPD2
Asterisk 609170 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 4; TXNDC4 ENDOPLASMIC RETICULUM RESIDENT PROTEIN, 44-KD; ERp44;; KIAA0573
Asterisk 609171 CDC42 EFFECTOR PROTEIN 5; CDC42EP5 CEP5;; BINDER OF RHO GTPases 3; BORG3
Asterisk 609172 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 16A; PPP1R16A MYOSIN PHOSPHATASE TARGET SUBUNIT 3; MYPT3
Asterisk 609173 KINETOCHORE SCAFFOLD 1; KNL1 CASC5 GENE; CASC5;; ALL1-FUSED GENE FROM CHROMOSOME 15q14; AF15Q14;; KIAA1570;; D40 AF15Q14/ALL1 FUSION GENE, INCLUDED
Asterisk 609174 NSL1, MIS12 KINETOCHORE COMPLEX COMPONENT; NSL1 DC8;; CHROMOSOME 1 OPEN READING FRAME 48; C1ORF48
Asterisk 609175 DSN1, MIS12 KINETOCHORE COMPLEX COMPONENT; DSN1 DSN1, S. CEREVISIAE, HOMOLOG OF;; CHROMOSOME 20 OPEN READING FRAME 172; C20ORF172
Asterisk 609176 POLYAMINE-MODULATED FACTOR 1; PMF1
Asterisk 609177 ZW10 INTERACTOR; ZWINT ZWINT1
Asterisk 609178 MIS12, S. POMBE, HOMOLOG OF; MIS12
Percent 609179 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 7 MGR7
Number Sign 609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F CDG If; CDGIf
Asterisk 609181 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 4; DYRK4
Asterisk 609182 SOLUTE CARRIER FAMILY 35, MEMBER D2; SLC35D2 FRINGE CONNECTION, DROSOPHILA, HOMOLOG OF, 1; HFRC1;; SQV7-LIKE PROTEIN; SQV7L;; UGTREL8
Asterisk 609183 AURORA KINASE A-INTERACTING PROTEIN AURKA-INTERACTING PROTEIN; AIP
Asterisk 609184 KINESIN FAMILY MEMBER 4B; KIF4B
Asterisk 609185 ZINC FINGER AND HOMEODOMAIN PROTEIN 2; ZHX2 ALPHA-FETOPROTEIN REGULATOR 1, MOUSE, HOMOLOG OF; AFR1;; AFP REGULATOR 1, MOUSE, HOMOLOG OF;; REGULATOR OF AFP, MOUSE, HOMOLOG OF; RAF;; KIAA0854
Asterisk 609186 D-2-HYDROXYGLUTARATE DEHYDROGENASE; D2HGDH D2HGD
Asterisk 609187 SUCCINYL-CoA:GLUTARATE-CoA TRANSFERASE; SUGCT CHROMOSOME 7 OPEN READING FRAME 10; C7ORF10
Asterisk 609188 M-PHASE-SPECIFIC PLK1-INTERACTING PROTEIN; MPLKIP CHROMOSOME 7 OPEN READING FRAME 11; C7ORF11;; TTDN1 GENE; TTDN1
Asterisk 609189 ANTI-SILENCING FUNCTION 1, S. CEREVISIAE, HOMOLOG OF, A; ASF1A CCG1-INTERACTING FACTOR A; CIA
Asterisk 609190 ANTI-SILENCING FUNCTION 1, S. CEREVISIAE, HOMOLOG OF, B; ASF1B
Asterisk 609191 PROTEIN KINASE A-INTERACTING PROTEIN 1; AKIP1 PKA-INTERACTING PROTEIN 1;; BREAST CANCER-ASSOCIATED GENE 3; BCA3;; CHROMOSOME 11 OPEN READING FRAME 17; C11ORF17
Number Sign 609192 LOEYS-DIETZ SYNDROME 1; LDS1 FURLONG SYNDROME;; LOEYS-DIETZ AORTIC ANEURYSM SYNDROME;; AORTIC ANEURYSM, FAMILIAL THORACIC 5; AAT5
Asterisk 609193 PEPTIDYL-PROLYL ISOMERASE-LIKE 5; PPIL5 LEUCINE-RICH REPEAT PROTEIN 1; LRR1
Asterisk 609194 CDK5 AND ABL ENZYME SUBSTRATE 1; CABLES1 CABLES;; INTERACTOR WITH CDK3 1;; IK3-1
Number Sign 609195 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26
Asterisk 609196 MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN; MRAP FAT TISSUE-SPECIFIC LOW MOLECULAR WEIGHT PROTEIN; FALP;; CHROMOSOME 21 OPEN READING FRAME 61; C21ORF61
Percent 609197 GLUCOCORTICOID DEFICIENCY 3; GCCD3 FAMILIAL GLUCOCORTICOID DEFICIENCY 3; FGD3;; GLUCOCORTICOID DEFICIENCY 2, FORMERLY; GCCD2, FORMERLY
Asterisk 609198 ADAMTS-LIKE PROTEIN 1; ADAMTSL1 PUNCTIN;; PUNCTIN 1
Asterisk 609199 ADAMTS-LIKE PROTEIN 3; ADAMTSL3 PUNCTIN 2;; KIAA1233
Number Sign 609200 MYOPATHY, MYOFIBRILLAR, 3; MFM3 MYOTILINOPATHY;; MYOPATHY, MYOFIBRILLAR, MYOTILIN-RELATED
Asterisk 609201 UBIQUITIN-ASSOCIATED AND SH3 DOMAIN-CONTAINING PROTEIN B; UBASH3B SUPPRESSOR OF T-CELL RECEPTOR SIGNALING 1; STS1;; p70;; T-CELL UBIQUITIN LIGAND 2; TULA2;; KIAA1959
Asterisk 609202 SECRETAGOGIN; SCGN
Asterisk 609203 CLAUDIN 23; CLDN23
Asterisk 609204 MITOCHONDRIAL RIBOSOMAL PROTEIN S16: MRPS16
Asterisk 609205 DAB2-INTERACTING PROTEIN; DAB2IP ASK1-INTERACTING PROTEIN; AIP1;; KIAA1743
Asterisk 609206 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, EPSILON-1; EEF1E1 ELONGATION FACTOR p18
Asterisk 609207 MELANOREGULIN; MREG DILUTE SUPPRESSOR, MOUSE, HOMOLOG OF;; DSU, MOUSE, HOMOLOG OF; DSU
Asterisk 609208 KAZAL-TYPE PROTEASE INHIBITOR DOMAIN-CONTAINING PROTEIN 1; KAZALD1 BONE- AND ODONTOBLAST-EXPRESSED GENE 1; BONO1;; IGFBP-RELATED PROTEIN 10; IGFBPRP10
Asterisk 609209 INFLUENZA VIRUS NS1A PROTEIN-BINDING PROTEIN; IVNS1ABP NS1-BINDING PROTEIN; NS1BP;; NCX DOWNSTREAM GENE 1; ND1;; KIAA0850
Asterisk 609210 CLAUDIN 18; CLDN18
Asterisk 609211 MYOSIN, LIGHT CHAIN 12B, REGULATORY; MYL12B MYOSIN REGULATORY LIGHT CHAIN 2; MRLC2
Asterisk 609212 ASPARAGINASE-LIKE PROTEIN 1; ASRGL1 ALP
Asterisk 609213 SEC61 COMPLEX, ALPHA-1 SUBUNIT; SEC61A1 SEC61A;; SEC61, S. CEREVISIAE, HOMOLOG OF; SEC61
Asterisk 609214 SEC61 COMPLEX, BETA SUBUNIT; SEC61B
Asterisk 609215 SEC61 COMPLEX, GAMMA SUBUNIT; SEC61G
Asterisk 609216 SPIRE, DROSOPHILA, HOMOLOG OF, 1; SPIRE1 SPIR1;; KIAA1135
Asterisk 609217 SPIRE, DROSOPHILA, HOMOLOG OF, 2; SPIRE2 SPIR2;; KIAA1832
Number Sign 609218 FOVEAL HYPOPLASIA 2; FVH2 FOVEAL HYPOPLASIA 2 WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS;; FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM; FHONDA
Asterisk 609219 NUDIX HYDROLASE 14; NUDT14 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 14;; NUDIX MOTIF 14;; URIDINE DIPHOSPHATE GLUCOSE PYROPHOSPHATASE; UGPP;; UDPG PYROPHOSPHATASE;; UGPPase
Number Sign 609220 BRUCK SYNDROME 2; BRKS2 OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES
Asterisk 609221 N-ACETYLTRANSFERASE 10; NAT10 N-ACETYLTRANSFERASE-LIKE PROTEIN; ALP;; KRE33, YEAST, HOMOLOG OF;; RIBOSOMAL RNA CYTIDINE ACETYLTRANSFERASE 1; RRA1;; KIAA1709
Percent 609222 DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT; ADDWOC
Percent 609223 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER TYPE
Asterisk 609224 WD40 REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSITIDES 1; WIPI1 WIPI, 49-KD; WIPI49
Asterisk 609225 WD40 REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSITIDES 2; WIPI2
Asterisk 609226 WD REPEAT-CONTAINING PROTEIN 45B; WDR45B WD REPEAT-CONTAINING PROTEIN 45-LIKE; WDR45L;; WD40 REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSITIDES 3; WIPI3
Number Sign 609227 GRISCELLI SYNDROME, TYPE 3; GS3
Asterisk 609228 NUDIX HYDROLASE 3; NUDT3 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 3;; NUDIX MOTIF 3;; DIPHOSPHOINOSITOL POLYPHOSPHATE PHOSPHOHYDROLASE; DIPP;; DIPP1
Asterisk 609229 NUDIX HYDROLASE 4; NUDT4 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 4;; NUDIX MOTIF 4;; DIPHOSPHOINOSITOL POLYPHOSPHATE PHOSPHOHYDROLASE 2; DIPP2;; KIAA0487
Asterisk 609230 NUDIX HYDROLASE 5; NUDT5 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 5;; NUDIX MOTIF 5;; YSA1, S. CEREVISIAE, HOMOLOG OF; YSA1; YSA1H
Asterisk 609231 NUDIX HYDROLASE 7; NUDT7 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 7;; NUDIX MOTIF 7
Asterisk 609232 NUDIX HYDROLASE 12; NUDT12 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 12;; NUDIX MOTIF 12
Asterisk 609233 NUDIX HYDROLASE 13; NUDT13 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 13;; NUDIX MOTIF 13
Asterisk 609234 EUKARYOTIC TRANSLATION INITIATION FACTOR 2A; EIF2A
Asterisk 609235 BR SERINE/THREONINE KINASE 1; BRSK1 KIAA1811
Asterisk 609236 BR SERINE/THREONINE KINASE 2; BRSK2 SAD1, C. ELEGANS, HOMOLOG OF; SAD1;; PEN11B
Asterisk 609237 IQ MOTIF-CONTAINING PROTEIN B1; IQCB1 NEPHROCYSTIN 5; NPHP5;; p53- AND DNA DAMAGE-REGULATED IQ MOTIF PROTEIN; PIQ;; KIAA0036
Asterisk 609238 RAB GTPase-ACTIVATING PROTEIN 1-LIKE; RABGAP1L TBC1 DOMAIN FAMILY, MEMBER 18; TBC1D18;; KIAA0471
Asterisk 609239 LYSOPHOSPHATIDIC ACID RECEPTOR 6; LPAR6 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 5; P2RY5;; P2RY5
Asterisk 609240 GERM CELL-SPECIFIC GENE 2; GSG2 HAPLOID GERM CELL-SPECIFIC NUCLEAR PROTEIN KINASE; HASPIN
Number Sign 609241 SCHINDLER DISEASE, TYPE I NEUROAXONAL DYSTROPHY, SCHINDLER TYPE;; ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I;; NAGA DEFICIENCY, TYPE I ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III, INCLUDED;; NAGA DEFICIENCY, TYPE III, INCLUDED;; SCHINDLER DISEASE, TYPE III, INCLUDED
Number Sign 609242 KANZAKI DISEASE ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II;; ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, ADULT-ONSET;; NAGA DEFICIENCY, TYPE II;; SCHINDLER DISEASE, TYPE II
Asterisk 609243 RETINOIC ACID EARLY TRANSCRIPT 1E; RAET1E LYMPHOCYTE EFFECTOR CELL TOXICITY-ACTIVATING LIGAND; LETAL;; UL16-BINDING PROTEIN 4; ULBP4
Asterisk 609244 RETINOIC ACID EARLY TRANSCRIPT 1G; RAET1G
Asterisk 609245 G PROTEIN SIGNALING MODULATOR 2; GPSM2 LEU-GLY-ASN REPEAT-ENRICHED PROTEIN; LGN;; TRANSDUCIN-BINDING PARTNER, ROD-SPECIFIC;; PINS, DROSOPHILA, HOMOLOG OF
Asterisk 609246 PYRIDOXAL PHOSPHATASE; PDXP PLP PHOSPHATASE;; CHRONOPHIN; CIN PDXP/SH3BP1 FUSION GENE, INCLUDED
Asterisk 609247 RING FINGER PROTEIN 13; RNF13
Asterisk 609248 HECT DOMAIN AND RCC1-LIKE DOMAIN 4; HERC4 KIAA1593
Asterisk 609249 HECT DOMAIN AND RCC1-LIKE DOMAIN 6; HERC6
NULL 609250 HYPOTRICHOSIS, PROGRESSIVE PATTERNED SCALP, WITH WIRY HAIR, ONYCHOLYSIS, AND CLEFT LIP/PALATE MARIE UNNA-LIKE SCALP HYPOTRICHOSIS
Asterisk 609251 Fc RECEPTOR-LIKE PROTEIN B; FCRLB Fc RECEPTOR-LIKE PROTEIN 2; FCRL2;; Fc RECEPTOR HOMOLOG EXPRESSED IN B CELLS 2; FREB2;; FCRY
Asterisk 609252 LIPASE I; LIPI LPD LIPASE; LPDL;; PRED5
Percent 609253 FEBRILE SEIZURES, FAMILIAL, 6; FEB6 CONVULSIONS, FAMILIAL FEBRILE, 6
Number Sign 609254 SENIOR-LOKEN SYNDROME 5; SLSN5
Percent 609255 FEBRILE SEIZURES, FAMILIAL, 5; FEB5 CONVULSIONS, FAMILIAL FEBRILE, 5
Percent 609256 MYOPIA 7; MYP7
Percent 609257 MYOPIA 8; MYP8
Percent 609258 MYOPIA 9; MYP9
Percent 609259 MYOPIA 10; MYP10
Number Sign 609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2;; CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A2;; HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA2; HMSN2A2;; HMSN IIA2
Percent 609261 STUTTERING, FAMILIAL PERSISTENT, 2; STUT2
Asterisk 609262 CEREBLON; CRBN
Asterisk 609263 SEH1-LIKE PROTEIN; SEH1L SEH1, YEAST, HOMOLOG OF; SEH1;; SEC13-LIKE PROTEIN; SEC13L
Asterisk 609264 NUCLEOPORIN, 37-KD; NUP37 p37
Number Sign 609265 LI-FRAUMENI SYNDROME 2; LFS2
Caret 609266 MOVED TO 151623
Asterisk 609267 MELANOMA ANTIGEN, FAMILY F, 1; MAGEF1
Asterisk 609268 SPLICING REGULATORY PROTEIN, GLUTAMINE/LYSINE-RICH, 1; SREK1 SPLICING FACTOR, ARGININE/SERINE-RICH, 12; SFRS12;; SR-RELATED PROTEIN, 86-KD; SRRp86;; SRRp508
Asterisk 609269 KIAA0319 GENE; KIAA0319
Number Sign 609270 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7
Percent 609271 KERATOCONUS 4; KTCN4
Asterisk 609272 TRYPTASE, DELTA-1; TPSD1 TRYPTASE, DELTA;; MAST CELL PROTEASE 7-LIKE;; MCP7-LIKE
Number Sign 609273 NEMALINE MYOPATHY 6; NEM6
Asterisk 609274 NASCENT POLYPEPTIDE-ASSOCIATED COMPLEX, ALPHA POLYPEPTIDE, 2
Asterisk 609275 RAB3 GTPase-ACTIVATING PROTEIN, NONCATALYTIC SUBUNIT; RAB3GAP2 RAB3GAP, 150-KD SUBUNIT; RAB3GAP150;; p150;; KIAA0839
Asterisk 609276 NON-SMC CONDENSIN II COMPLEX SUBUNIT D3; NCAPD3 CONDENSIN II COMPLEX, NON-SMC SUBUNIT D3;; CHROMOSOME-ASSOCIATED PROTEIN D3; CAPD3;; KIAA0056
Asterisk 609277 MOLYBDENUM COFACTOR SYNTHESIS 3; MOCS3
Asterisk 609278 IZUMO SPERM-EGG FUSION PROTEIN 1; IZUMO1 SPERM-SPECIFIC PROTEIN IZUMO;; MGC34799
Asterisk 609279 CENTROMERIC PROTEIN J; CENPJ CENTROSOMAL P4.1-ASSOCIATED PROTEIN; CPAP
Asterisk 609280 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 4; EIF2AK4 GENERAL CONTROL NONDEREPRESSIBLE 2; GCN2;; KIAA1338
Asterisk 609281 MOB1-LIKE PROTEIN 1B; MOBKL1B MATS, DROSOPHILA, HOMOLOG OF, 1; MATS1
Asterisk 609282 MOB1-LIKE PROTEIN 1A; MOBKL1A MATS, DROSOPHILA, HOMOLOG OF, 2; MATS2
Number Sign 609283 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2
Number Sign 609284 NEMALINE MYOPATHY 1; NEM1 CAP MYOPATHY 1, INCLUDED; CAPM1, INCLUDED
Number Sign 609285 NEMALINE MYOPATHY 4; NEM4 CAP MYOPATHY 2, INCLUDED; CAPM2, INCLUDED
Number Sign 609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
Asterisk 609287 SH3 DOMAIN, GRB2-LIKE, ENDOPHILIN B1; SH3GLB1 ENDOPHILIN B1;; BAX-INTERACTING FACTOR 1; BIF1;; KIAA0491
Asterisk 609288 SH3 DOMAIN, GRB2-LIKE, ENDOPHILIN B2; SH3GLB2 ENDOPHILIN B2;; KIAA1848
Percent 609289 SYNCOPE, FAMILIAL VASOVAGAL; VVS SYNCOPE, FAMILIAL NEUROCARDIOGENIC
Asterisk 609290 ADENYLATE KINASE 3; AK3 ADENYLATE KINASE 3-LIKE 1, FORMERLY; AK3L1, FORMERLY
Asterisk 609291 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1; SPRED1
Asterisk 609292 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 2; SPRED2
Asterisk 609293 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 3; SPRED3
Asterisk 609294 SEMAPHORIN 6C; SEMA6C KIAA1869
Asterisk 609295 SEMAPHORIN 6D; SEMA6D KIAA1479
Percent 609296 B-CELL IMMUNODEFICIENCY, DISTAL LIMB ANOMALIES, AND UROGENITAL MALFORMATIONS BILU SYNDROME;; HOFFMAN SYNDROME
Asterisk 609297 SEMAPHORIN 5A; SEMA5A SEMAPHORIN F; SEMAF; SEMF
Asterisk 609298 SEMAPHORIN 5B; SEMA5B SEMAPHORIN G; SEMAG; SEMG;; KIAA1445
Percent 609299 PROSTATE CANCER, HEREDITARY, 5 HPC5
Asterisk 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1 STEROID 17-ALPHA-MONOOXYGENASE;; CYTOCHROME P450, SUBFAMILY XVII;; CYP17;; P450C17;; S17AH;; STEROID 17-HYDROXYLASE/17,20-LYASE
Asterisk 609301 p53 EFFECTOR RELATED TO PMP22; PERP THW
Asterisk 609302 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER 22; SLC25A22 GLUTAMATE CARRIER 1; GC1
Asterisk 609303 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER 18; SLC25A18 GLUTAMATE CARRIER 2; GC2
Number Sign 609304 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3
Asterisk 609305 LATEXIN; LXN ENDOGENOUS CARBOXYPEPTIDASE INHIBITOR; ECI;; TISSUE CARBOXYPEPTIDASE INHIBITOR; TCI
Number Sign 609306 SPINOCEREBELLAR ATAXIA 26; SCA26
Number Sign 609307 SPINOCEREBELLAR ATAXIA 27; SCA27 CEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, FGF14-RELATED
Number Sign 609308 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; LGMD2K
Asterisk 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2
Number Sign 609310 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; FCC2;; COCA2
Number Sign 609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H;; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4H
Asterisk 609312 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH DOPAMINE BETA-MONOOXYGENASE
Number Sign 609313 MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA; MEDNIK ERYTHROKERATODERMIA VARIABILIS 3; EKV3;; ERYTHROKERATODERMIA VARIABILIS, KAMOURASKA TYPE
Asterisk 609314 RADIAL SPOKE HEAD 1, CHLAMYDOMONAS, HOMOLOG OF; RSPH1 TSA2;; MALE MEIOTIC METAPHASE CHROMOSOME-ASSOCIATED ACIDIC PROTEIN; MEICHROACIDIN;; TESTIS-SPECIFIC PROTEIN 2; TSGA2
Asterisk 609315 TRIPARTITE MOTIF-CONTAINING PROTEIN 7; TRIM7 GLYCOGEN-INTERACTING PROTEIN; GNIP
Asterisk 609316 TRIPARTITE MOTIF-CONTAINING PROTEIN 31; TRIM31 HCGI
Asterisk 609317 TRIPARTITE MOTIF-CONTAINING PROTEIN 36; TRIM36 RBCC728
Asterisk 609318 TRIPARTITE MOTIF-CONTAINING PROTEIN 45; TRIM45
Percent 609319 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HCHGQ1 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6
Percent 609320 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HCHGQ2 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 9
Asterisk 609321 SAS6 CENTRIOLAR ASSEMBLY PROTEIN; SASS6 SAS6, C. ELEGANS, HOMOLOG OF; SAS6
Number Sign 609322 RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1 BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL MALIGNANT RHABDOID TUMOR, SOMATIC, INCLUDED;; RHABDOID TUMOR, INCLUDED; RDT, INCLUDED;; TERATOID TUMOR, ATYPICAL, INCLUDED;; AT/RT, INCLUDED
Asterisk 609323 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 3; OLIG3 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 7; BHLHB7
Percent 609324 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA
Percent 609325 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES
Asterisk 609326 MICRO RNA 1-1; MIR1-1 miRNA1-1;; MIRN1-1
Asterisk 609327 MICRO RNA 124-1; MIR124-1 miRNA124-1;; MIRN124-1;; miRNA124A1;; MIR124A1;; MIRN124A1
Asterisk 609328 URIDINE/CYTIDINE KINASE 1; UCK1
Asterisk 609329 URIDINE/CYTIDINE KINASE 2; UCK2 TSA903
Asterisk 609330 ONCOPROTEIN-INDUCED TRANSCRIPT 3, MOUSE, HOMOLOG OF; OIT3 LIVER-SPECIFIC ZONA PELLUCIDA DOMAIN-CONTAINING PROTEIN; LZP
Asterisk 609331 BASIC HELIX-LOOP-HELIX FAMILY, MEMBER E23; BHLHE23 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 4; BHLHB4
Asterisk 609332 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 7A; TTC7A TTC7;; KIAA1140
Asterisk 609333 TRACE AMINE-ASSOCIATED RECEPTOR 1; TAAR1 TAR1; TA1
Number Sign 609334 CHROMOSOME 18 PERICENTRIC INVERSION
Asterisk 609335 CHROMOSOME 1 OPEN READING FRAME 27; C1ORF27 ODORANT RESPONSE ABNORMAL 4, C. ELEGANS, HOMOLOG OF; ODR4
Asterisk 609336 ANGIOPOIETIN-LIKE 6; ANGPTL6 ANGIOPOIETIN-RELATED GROWTH FACTOR; AGF
Asterisk 609337 MICRO RNA 155; MIR155 miRNA155;; MIRN155 BIC TRANSCRIPT, INCLUDED; BIC, INCLUDED
Number Sign 609338 CAROTID INTIMAL MEDIAL THICKNESS 1 CIMT1;; INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY
Caret 609339 MOVED TO 265000
Number Sign 609340 SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28
Asterisk 609341 TRYPTASE, GAMMA-1; TPSG1 TRYPTASE, GAMMA;; TRANSMEMBRANE TRYPTASE; TMT
Asterisk 609342 GASTRIC INTRINSIC FACTOR; GIF IF
Asterisk 609343 PROTEASE, SERINE, 22; PRSS22 TRYPTASE, EPSILON
Asterisk 609344 KIELIN/CHORDIN-LIKE PROTEIN KCP;; KIELIN-LIKE PROTEIN
NULL 609345 CEREBRORENODIGITAL SYNDROME WITH LIMB MALFORMATIONS AND TRIRADIATE ACETABULA
Asterisk 609346 RECEPTOR EXPRESSION-ENHANCING PROTEIN 6; REEP6 DELETED IN POLYPOSIS 1-LIKE 1; DP1L1;; TB2-LIKE 1; TB2L1;; CHROMOSOME 19 OPEN READING FRAME 32; C19ORF32
Asterisk 609347 RECEPTOR EXPRESSION-ENHANCING PROTEIN 2; REEP2 SGC32445;; CHROMOSOME 5 OPEN READING FRAME 19; C5ORF19
Asterisk 609348 RECEPTOR EXPRESSION-ENHANCING PROTEIN 3; REEP3 CHROMOSOME 10 OPEN READING FRAME 74; C10ORF74
Asterisk 609349 RECEPTOR EXPRESSION-ENHANCING PROTEIN 4; REEP4 CHROMOSOME 8 OPEN READING FRAME 20; C8ORF20
Asterisk 609350 RECEPTOR-TRANSPORTING PROTEIN 4; RTP4
Asterisk 609351 ADP-RIBOSYLATION FACTOR-LIKE 11; ARL11 ADP-RIBOSYLATION FACTOR-LIKE TUMOR SUPPRESSOR 1; ARLTS1
Number Sign 609352 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA
Asterisk 609353 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 2; ESCO2 ECO1, S. CEREVISIAE, HOMOLOG OF, 2;; CTF7, S. CEREVISIAE, HOMOLOG OF, 2;; ESO1, S. POMBE, HOMOLOG OF, 2;; ESTABLISHMENT FACTOR ORTHOLOG 2; EFO2
Percent 609354 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 5; BMND5
Asterisk 609355 MICRO RNA 32; MIR32 miRNA32;; MIRN32
Asterisk 609356 NUCLEAR FMRP-INTERACTING PROTEIN 2; NUFIP2 FMRP-INTERACTING PROTEIN, 82-KD;; 82-FIP;; KIAA1321;; PROLIFERATION-INDUCING GENE 1; PIG1
Asterisk 609357 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 10; MCM10 MINICHROMOSOME MAINTENANCE 10, S. CEREVISIAE, HOMOLOG OF;; DNA43
Asterisk 609358 ETS VARIANT GENE 2; ETV2 ETS-RELATED PROTEIN 71, MOUSE, HOMOLOG OF; ER71; ETSRP71
Asterisk 609359 HS1-BINDING PROTEIN 3; HS1BP3 FLJ14249
Asterisk 609360 RENALASE; RNLS CHROMOSOME 10 OPEN READING FRAME 59; C10ORF59
Asterisk 609361 MOB FAMILY, MEMBER 4; MOB4 PHOCEIN;; MOB1-LIKE PROTEIN 3; MOBKL3;; MOB1;; MOB3;; PREIMPLANTATION PROTEIN 3, MOUSE, HOMOLOG OF; PREI3
Asterisk 609362 LYSOPHOSPHOLIPASE 3; LYPLA3 LCAT-LIKE LYSOPHOSPHOLIPASE; LLPL;; ACYLCERAMIDE SYNTHASE; ACS;; LYSOSOMAL PHOSPHOLIPASE A2; LPLA2
NULL 609363 COLLOID CYSTS OF THIRD VENTRICLE NEUROEPITHELIAL CYSTS OF THIRD VENTRICLE
Asterisk 609364 NLR FAMILY, PYRIN DOMAIN-CONTAINING 2; NLRP2 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 2; NALP2;; PYRIN DOMAIN- AND NACHT DOMAIN-CONTAINING PROTEIN 1; PAN1;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 2; PYPAF2
Asterisk 609365 GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 2; GNL2 NGP1
Asterisk 609366 SH2 DOMAIN-BINDING PROTEIN 1; SH2BP1 TETRATRICOPEPTIDE-CONTAINING SH2-BINDING PHOSPHOPROTEIN, 150-KD;; p150(TSP);; CTR9, S. CEREVISIAE, HOMOLOG OF;; KIAA0155
Asterisk 609367 KIAA1279 GENE; KIAA1279 KINESIN-BINDING PROTEIN; KBP
Asterisk 609368 ATLASTIN GTPase 2; ATL2 ADP-RIBOSYLATION-LIKE FACTOR 6-INTERACTING PROTEIN 2; ARL6IP2;; ARL6-INTERACTING PROTEIN 2
Asterisk 609369 ATLASTIN GTPase 3; ATL3
Asterisk 609370 SERINE/THREONINE KINASE 35; STK35 CLP36-INTERACTING KINASE; CLIK1
Asterisk 609371 CHROMOSOME 5 OPEN READING FRAME 5; C5ORF5
Asterisk 609372 FAMILY WITH SEQUENCE SIMILARITY 53, MEMBER C; FAM53C CHROMOSOME 5 OPEN READING FRAME 6; C5ORF6
Asterisk 609373 LYSINE-SPECIFIC DEMETHYLASE 3B; KDM3B K-SPECIFIC DEMETHYLASE 3B;; CHROMOSOME 5 OPEN READING FRAME 7; C5ORF7;; KIAA1082;; JUMONJI DOMAIN-CONTAINING PROTEIN 1B, FORMERLY; JMJD1B, FORMERLY
Asterisk 609374 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 5; CDCA5 SORORIN
Asterisk 609375 LIN9, C. ELEGANS, HOMOLOG OF; LIN9
Percent 609376 CATARACT 35; CTRCT35 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 1; CATCN1
Asterisk 609377 ACD, MOUSE, HOMOLOG OF; ACD POT1- AND TIN2-ORGANIZING PROTEIN; PTOP;; POT1-INTERACTING PROTEIN 1; PIP1;; TIN2-INTERACTING PROTEIN 1; TINT1;; TELOMERE PROTEIN TPP1
Percent 609378 AUTISM, SUSCEPTIBILITY TO, 6; AUTS6
Asterisk 609379 LIPOCALIN 6; LCN6
Asterisk 609380 LEISHMANOLYSIN-LIKE; LMLN INVADOLYSIN, DROSOPHILA, HOMOLOG OF
Asterisk 609381 SYNTAXIN-BINDING PROTEIN 5-LIKE; STXBP5L LETHAL GIANT LARVAE, DROSOPHILA, HOMOLOG OF, 4; LLGL4
Asterisk 609382 IMMEDIATE-EARLY RESPONSE 3-INTERACTING PROTEIN 1; IER3IP1
Asterisk 609383 NIPA-LIKE DOMAIN-CONTAINING 4; NIPAL4 ICHTHYIN; ICHYN
Percent 609384 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C; CFEOM3C FEOM4 LOCUS
Asterisk 609385 DEAD END, ZEBRAFISH, HOMOLOG OF, 1; DND1
Asterisk 609386 STRUCTURAL MAINTENANCE OF CHROMOSOMES 5; SMC5 SMC5-LIKE 1; SMC5L1;; KIAA0594
Asterisk 609387 STRUCTURAL MAINTENANCE OF CHROMOSOMES 6; SMC6 SMC6-LIKE 1; SMC6L1
Asterisk 609388 METHYLTRANSFERASE-LIKE 9; METTL9 DORA REVERSE STRAND; DREV
Asterisk 609389 INOSITOL POLYPHOSPHATE 5-PHOSPHATASE F; INPP5F SAC DOMAIN-CONTAINING INOSITOL PHOSPHATASE 2; SAC2;; KIAA0966
Asterisk 609390 FIG4, S. CEREVISIAE, HOMOLOG OF; FIG4 SAC DOMAIN-CONTAINING INOSITOL PHOSPHATASE 3; SAC3;; KIAA0274
Asterisk 609391 TRANSCRIPTION FACTOR Sp5; SP5 SPECIFICITY PROTEIN 5
Asterisk 609392 KRUPPEL-LIKE FACTOR 3; KLF3 BASIC KRUPPEL-LIKE FACTOR; BKLF
Asterisk 609393 KRUPPEL-LIKE FACTOR 14; KLF14 BASIC TRANSCRIPTION ELEMENT-BINDING PROTEIN 5; BTEB5
Asterisk 609394 SPC24, NDC80 KINETOCHORE COMPLEX COMPONENT; SPC24 SPINDLE POLE BODY COMPONENT 24, S. CEREVISIAE, HOMOLOG OF; SPBC24 SPC24, S. CEREVISIAE, HOMOLOG OF
Asterisk 609395 SPC25, NDC80 KINETOCHORE COMPLEX COMPONENT; SPC25 SPINDLE POLE BODY COMPONENT 25, S. CEREVISIAE, HOMOLOG OF; SPBC25;; SPC25, S. CEREVISIAE, HOMOLOG OF
Asterisk 609396 PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE 1; PHLPP1 PHLPP;; SUPRACHIASMATIC NUCLEUS CIRCADIAN OSCILLATORY PROTEIN; SCOP;; KIAA0606
Asterisk 609397 STORKHEAD BOX 1; STOX1
Asterisk 609398 ATPase, H+ TRANSPORTING, LYSOSOMAL, 34-KD, V1 SUBUNIT D; ATP6V1D ATP6M
Asterisk 609399 SPERM EQUATORIAL SEGMENT PROTEIN 1; SPESP1
Percent 609400 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4; AIS4 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 5; VAMAS5;; AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 4-RELATED
Asterisk 609401 HEPARAN SULFATE 6-O-SULFOTRANSFERASE 3; HS6ST3
Percent 609402 PREECLAMPSIA/ECLAMPSIA 2; PEE2
Percent 609403 PREECLAMPSIA/ECLAMPSIA 3; PEE3
Number Sign 609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4
Asterisk 609405 RHO GTPase-ACTIVATING PROTEIN 8; ARHGAP8 GTPase-ACTIVATING PROTEIN, RHO, 8;; BCH DOMAIN-CONTAINING, PROLINE-RICH, AND CDC42GAP-LIKE PROTEIN 1; BPGAP1
Asterisk 609406 PROLINE-RICH PROTEIN 5; PRR5 PP610;; PROTEIN OBSERVED WITH RICTOR 1; PROTOR1
Asterisk 609407 HEPARAN SULFATE (GLUCOSAMINE) 3-O-SULFOTRANSFERASE 5; HS3ST5 3OST5
Percent 609408 HOLOPROSENCEPHALY 8; HPE8
Asterisk 609409 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A0; HNRNPA0 HNRPA0
Asterisk 609410 SYNAPTOJANIN 2; SYNJ2 KIAA0348
Asterisk 609411 SYNAPTOJANIN 2-BINDING PROTEIN; SYNJ2BP SYNJ2-BINDING PROTEIN;; OUTER MEMBRANE PROTEIN, 25-KD; OMP25;; ACTIVIN RECEPTOR-INTERACTING PROTEIN 2; ARIP2
Asterisk 609412 EXCISION REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8 CSA GENE;; CKN1 GENE
Asterisk 609413 EXCISION REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6 RAD26, S. CEREVISIAE, HOMOLOG OF;; CSB GENE PIGGYBAC TRANSPOSABLE ELEMENT-DERIVED 3, INCLUDED; PGBD3, INCLUDED;; CSB/PGBD3 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED;; CSB/PGBD3 PROTEIN, INCLUDED;; ERCC6/PGBD3 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED;; ERCC6/PGBD3 PROTEIN, INCLUDED
Asterisk 609414 PHOSPHOINOSITIDE KINASE, FYVE FINGER-CONTAINING; PIKFYVE PHOSPHATIDYLINOSITOL 3-PHOSPHATE 5-KINASE, TYPE III; PIP5K3;; FAB1, S. CEREVISIAE, HOMOLOG OF; FAB1;; KIAA0981
Asterisk 609415 MICRO RNA 17 HOST GENE; MIR17HG MIR17 HOST GENE;; MIR17-92 CLUSTER HOST GENE;; MICRO RNA HOST GENE 1; MIRHG1; MIHG1; MIRH1;; ONCOMIR1 HOST GENE;; CHROMOSOME 13 OPEN READING FRAME 25; C13ORF25 MIR17-92 CLUSTER, INCLUDED;; ONCOMIR1, INCLUDED
Asterisk 609416 MICRO RNA 17; MIR17 miRNA17;; MIRN17;; MIR17-5p;; MICRO RNA 91; MIR91;; miRNA91;; MIRN91 MICRO RNA 17*, INCLUDED; MIR17*, INCLUDED;; MIR17-3p, INCLUDED
Asterisk 609417 MICRO RNA 18A; MIR18A miRNA18A;; MIRN18A
Asterisk 609418 MICRO RNA 19A; MIR19A miRNA19A;; MIRN19A
Asterisk 609419 MICRO RNA 19B1; MIR19B1 miRNA19B1;; MIRN19B1
Asterisk 609420 MICRO RNA 20A; MIR20A miRNA20A;; MIRN20A
Caret 609421 MOVED TO 609416
Asterisk 609422 MICRO RNA 92A1; MIR92A1 miRNA92A1;; MIRN92A1;; MIR92-1;; MIRN92-1;; miRNA92-1
Number Sign 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO HIV-1, SUSCEPTIBILITY TO HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO, INCLUDED;; HIV-1, RESISTANCE TO, INCLUDED;; ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO, INCLUDED;; AIDS, PROGRESSION TO, INCLUDED
Asterisk 609424 RING FINGER AND CCCH-TYPE ZINC FINGER DOMAINS-CONTAINING 1; RC3H1 ROQUIN;; KIAA2025
Number Sign 609425 CHROMOSOME 3q29 DELETION SYNDROME MICRODELETION 3q29 SYNDROME
Asterisk 609426 MISSHAPEN/NIK-RELATED KINASE 1; MINK1 MINK
Asterisk 609427 LHFP-LIKE PROTEIN 5; LHFPL5 TETRASPAN MEMBRANE PROTEIN OF HAIR CELL STEREOCILIA; TMHS
Percent 609428 TUKEL SYNDROME FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH ULNAR HAND ANOMALIES;; CFEOM-U;; FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 4; CFEOM4
Asterisk 609429 FORKHEAD BOX N4; FOXN4
Asterisk 609430 NEURONAL PAS DOMAIN PROTEIN 3; NPAS3 MEMBER OF PAS SUPERFAMILY 6; MOP6
Asterisk 609431 MAP3K12-BINDING INHIBITORY PROTEIN; MBIP MUK-BINDING INHIBITORY PROTEIN
Number Sign 609432 SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD SYNDACTYLY, MALIK-PERCIN TYPE;; SYNDACTYLY, TYPE IX
Asterisk 609433 UBIQUITIN INTERACTION MOTIF-CONTAINING PROTEIN 1; UIMC1 RECEPTOR-ASSOCIATED PROTEIN, 80-KD; RAP80
Asterisk 609434 LUC7, S. CEREVISIAE, HOMOLOG OF, 3; LUC7L3 LUC7-LIKE 3;; CISPLATIN RESISTANCE-ASSOCIATED OVEREXPRESSED PROTEIN; CROP;; LUC7A
Asterisk 609435 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 13; NDUFA13 GENE ASSOCIATED WITH RETINOID- AND INTERFERON-INDUCED MORTALITY 19; GRIM19
Asterisk 609436 FIBROBLAST GROWTH FACTOR 21; FGF21
Asterisk 609437 SERINE/THREONINE PROTEIN KINASE 40; STK40 SINK-HOMOLOGOUS INHIBITORY KINASE; SHIK
NULL 609438 MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIAL BLOCK
Number Sign 609439 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
Asterisk 609440 UTP11-LIKE PROTEIN; UTP11L CGI94
Number Sign 609441 ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES
NULL 609442 VALPROATE EMBRYOPATHY, SUSCEPTIBILITY TO FETAL VALPROATE SYNDROME; FVS
Asterisk 609443 CHYMOTRYPSIN-LIKE ELASTASE FAMILY, MEMBER 2A; CELA2A ELASTASE 2A; ELA2A;; PANCREATIC ELASTASE 2A
Asterisk 609444 CHYMOTRYPSIN-LIKE ELASTASE FAMILY, MEMBER 2B; CELA2B ELASTASE 2B; ELA2B;; PANCREATIC ELASTASE 2B
Asterisk 609445 RELAXIN/INSULIN-LIKE FAMILY PEPTIDE RECEPTOR 3; RXFP3 RELAXIN 3 RECEPTOR 1; RLN3R1;; RLN3 RECEPTOR 1;; SOMATOSTATIN- AND ANGIOTENSIN-LIKE PEPTIDE RECEPTOR; SALPR;; G PROTEIN-COUPLED RECEPTOR 135; GPCR135
Number Sign 609446 PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY; PNKD3 GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD
Asterisk 609447 MARGINAL ZONE B AND B1 CELL-SPECIFIC PROTEIN; MZB1 PROAPOPTOTIC CASPASE ADAPTOR PROTEIN; PACAP;; MGC29506
Asterisk 609448 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 12; TXNDC12 THIOREDOXIN-LIKE PROTEIN p19; TLP19;; ENDOPLASMIC RETICULUM PROTEIN, 18-KD; ERP18;; ANTERIOR GRADIENT 1, XENOPUS, HOMOLOG OF; AGR1
Asterisk 609449 NUDE NEURODEVELOPMENT PROTEIN 1; NDE1 NUDE, A. NIDULANS, HOMOLOG OF, 1;; NUDE;; HOM-TES-87
Asterisk 609450 MAX DIMERIZATION PROTEIN 3; MXD3 MAD3
Asterisk 609451 ZINC FINGER PROTEIN 90, MOUSE, HOMOLOG OF; ZFP90 NK10;; KIAA1954 FOXP3-INTERACTING KRAB DOMAIN-CONTAINING PROTEIN, INCLUDED; FIK, INCLUDED
Number Sign 609452 MYOPATHY, MYOFIBRILLAR, 4; MFM4
Asterisk 609453 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 7; GOLGA7 GOLGI COMPLEX-ASSOCIATED PROTEIN, 16-KD; GCP16
Percent 609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2; PSNP2
Asterisk 609455 PROLINE-, GLUTAMIC ACID-, AND LEUCINE-RICH PROTEIN 1; PELP1 MNAR
Percent 609456 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE
Asterisk 609457 HISTIDINE AMMONIA-LYASE; HAL HISTIDASE
Asterisk 609458 MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1 MANNOSIDASE, ALPHA B, LYSOSOMAL; MANB;; LAMAN
Asterisk 609459 DIGEORGE SYNDROME CRITICAL REGION GENE 6-LIKE; DGCR6L
Number Sign 609460 GOLDBERG-SHPRINTZEN SYNDROME; GOSHS GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
Asterisk 609461 TRIBBLES, DROSOPHILA, HOMOLOG OF, 1; TRIB1 TRB1;; SKIP1;; C8FW
Asterisk 609462 TRIBBLES, DROSOPHILA, HOMOLOG OF, 2; TRIB2 TRB2;; C5FW;; GS3955
Asterisk 609463 MKL/MYOCARDIN-LIKE 2; MKL2 MYOCARDIN-RELATED TRANSCRIPTION FACTOR B, MOUSE, HOMOLOG OF; MRTFB MKL2/C11ORF95 FUSION GENE, INCLUDED
Caret 609464 MOVED TO 186580
NULL 609465 AL-GAZALI SYNDROME
NULL 609466 CLEFT PALATE, MIDFACIAL HYPOPLASIA, TRIANGULAR FACIES, AND SENSORINEURAL HEARING LOSS
Asterisk 609467 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 2; CCL3L2 LD78-GAMMA;; G0S19-3;; G0S19-GAMMA
Asterisk 609468 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 3; CCL3L3
Percent 609469 NEPHROPATHY, PROGRESSIVE, WITH DEAFNESS NEDE;; ALPORT/FOCAL SEGMENTAL GLOMERULOSCLEROSIS-LIKE SYNDROME
Percent 609470 LEFT VENTRICULAR NONCOMPACTION 2; LVNC2
Asterisk 609471 GLUCOSIDASE, BETA, ACID 2; GBA2 BETA-GLUCOSIDASE, BILE ACID;; BILE ACID BETA-GLUCOSIDASE;; KIAA1605;; GLUCOSYLCERAMIDASE, NONLYSOSOMAL
Asterisk 609472 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-4; CNGA4
Asterisk 609473 CINGULIN, XENOPUS, HOMOLOG OF; CGN KIAA1319
Asterisk 609474 NEURONAL PENTRAXIN RECEPTOR; NPTXR NPR
Asterisk 609475 A-KINASE ANCHOR PROTEIN 8-LIKE PROTEIN; AKAP8L AKAP8-LIKE PROTEIN;; HOMOLOGOUS TO AKAP95; HA95;; NEIGHBOR OF AKAP95; NAKAP95; NAKAP;; HELICASE A-BINDING PROTEIN, 95-KD; HAP95
Asterisk 609476 NEMO-LIKE KINASE; NLK
Asterisk 609477 SINGLE-PASS MEMBRANE PROTEIN WITH COILED-COIL DOMAINS 4; SMCO4 CHROMOSOME 11 OPEN READING FRAME 75; C11ORF75;; FN5, PUFFERFISH, HOMOLOG OF; FN5
Asterisk 609478 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 3; ST8SIA3 ALPHA-2,8-SIALYLTRANSFERASE III;; ST8SIA III
Asterisk 609479 LEUCINE ZIPPER- AND STERILE ALPHA MOTIF-CONTAINING KINASE; ZAK MLK-LIKE MITOGEN-ACTIVATED PROTEIN TRIPLE KINASE; MLTK;; MLK-RELATED KINASE; MRK
Caret 609480 MOVED TO 194521
Asterisk 609481 ISL2 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL2 ISLET 2
Asterisk 609482 ANTERIOR GRADIENT 3, XENOPUS, HOMOLOG OF; AGR3 BREAST CANCER MEMBRANE PROTEIN 11; BCMP11
Asterisk 609483 FAMILY WITH SEQUENCE SIMILARITY 84, MEMBER B; FAM84B BREAST CANCER MEMBRANE PROTEIN 101; BCMP101
Asterisk 609484 LY6/PLAUR DOMAIN-CONTAINING PROTEIN 3; LYPD3 GPI-ANCHORED METASTASIS-ASSOCIATED PROTEIN C4.4A;; C4.4A
Asterisk 609485 MODULATOR OF APOPTOSIS 1; MOAP1 MAP1;; PARANEOPLASTIC MA ANTIGEN FAMILY, MEMBER 4; PNMA4;; PARANEOPLASTIC ANTIGEN-LIKE PROTEIN 4
Asterisk 609486 E2F-ASSOCIATED PHOSPHOPROTEIN; EAPP CHROMOSOME 14 OPEN READING FRAME 11; C14ORF11
Asterisk 609487 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 2; MAP3K2 MAP/ERK KINASE KINASE 2; MEKK2
Asterisk 609488 CANCER/TESTIS ANTIGEN KM-HN-1 MGC33607
Asterisk 609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA MANB1;; MANNANASE;; MANNASE
Asterisk 609490 INHIBITORY CASPASE RECRUITMENT DOMAIN PROTEIN INCA
Asterisk 609491 G PROTEIN SIGNALING MODULATOR 1; GPSM1 ACTIVATOR OF G PROTEIN SIGNALING 3; AGS3
Asterisk 609492 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 2; RASSF2 RASFADIN;; KIAA0168
Asterisk 609493 SLC2A4 REGULATOR; SLC2A4RG GLUT4 ENHANCER FACTOR; GEF;; HD GENE REGULATORY REGION-BINDING PROTEIN 1; HDBP1
Asterisk 609494 ZINC FINGER PROTEIN 395; ZNF395 PAPILLOMAVIRUS-BINDING FACTOR; PBF;; HD GENE REGULATORY REGION-BINDING PROTEIN 2; HDBP2
Asterisk 609495 GAMETOGENETIN-BINDING PROTEIN 1; GGNBP1
Caret 609496 MOVED TO 609814
Asterisk 609497 ENDOPLASMIC RETICULUM AMINOPEPTIDASE 2; ERAP2 LEUKOCYTE-DERIVED ARGININE AMINOPEPTIDASE; LRAP
Asterisk 609498 F-BOX ONLY PROTEIN 47 FBXO47
Asterisk 609499 MCF2-LIKE PROTEIN; MCF2L OST;; KIAA0362
Percent 609500 MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET
Asterisk 609501 TUDOR AND KH DOMAINS-CONTAINING PROTEIN; TDRKH
Asterisk 609502 CADHERIN-RELATED FAMILY, MEMBER 1; CDHR1 PROTOCADHERIN 21; PCDH21;; PHOTORECEPTOR CADHERIN; PRCAD
Asterisk 609503 TESTICULAR HAPLOID EXPRESSED GENE, MOUSE, HOMOLOG OF; THEG
Asterisk 609504 MICROSPHERULE PROTEIN 1; MCRS1 p78 MICROSPHERULE PROTEIN, 58-KD, INCLUDED; MSP58, INCLUDED;; MICROSPHERULE PROTEIN 2, INCLUDED; MCRS2, INCLUDED
Asterisk 609505 TRIPARTITE MOTIF-CONTAINING PROTEIN 16; TRIM16 ESTROGEN-RESPONSIVE B-BOX PROTEIN; EBBP
Asterisk 609506 CYTOCHROME P450, SUBFAMILY XXVIIB, POLYPEPTIDE 1; CYP27B1 25-HYDROXYVITAMIN D3-1-ALPHA-HYDROXYLASE;; 1-ALPHA-HYDROXYLASE;; P450C1-ALPHA
Asterisk 609507 TOPOISOMERASE I-BINDING ARGININE/SERINE-RICH PROTEIN; TOPORS p53-BINDING PROTEIN 3; P53BP3;; LUN
Number Sign 609508 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR;; STICKLER SYNDROME, ATYPICAL RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED; DRRD, INCLUDED
Asterisk 609509 INTERLEUKIN 31; IL31
Asterisk 609510 INTERLEUKIN 31 RECEPTOR A; IL31RA GP130-LIKE MONOCYTE RECEPTOR; GLMR;; GP130-LIKE RECEPTOR; GPL
Asterisk 609511 RABENOSYN, RAB EFFECTOR; RBSN ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 20; ZFYVE20;; RABENOSYN 5
Asterisk 609512 CHMP FAMILY, MEMBER 2B; CHMP2B CHROMATIN-MODIFYING PROTEIN 2B;; CHARGED MULTIVESICULAR BODY PROTEIN 2B;; VACUOLAR PROTEIN SORTING 2, YEAST, HOMOLOG OF, B; VPS2B
Asterisk 609513 NEUROPEPTIDE S NPS
Asterisk 609514 TAUBE NUSS, MOUSE, HOMOLOG OF; TBN TBP-ASSOCIATED FACTOR 8; TAF8;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 43-KD; TAFII43
NULL 609515 IRIDOGONIODYSGENESIS AND SKELETAL ANOMALIES
Asterisk 609516 ZINC FINGER PROTEIN 382; ZNF382 KRAB/ZINC FINGER SUPPRESSOR PROTEIN 1, RAT, HOMOLOG OF; KS1
Asterisk 609517 TGFB1-INDUCED ANTIAPOPTOTIC FACTOR 1; TIAF1 MYOSIN CONTAINING PDZ DOMAIN; MYSPDZ;; MOLECULE ASSOCIATED WITH JAK3 N TERMINUS; MAJN;; KIAA0216
Asterisk 609518 THAP DOMAIN-CONTAINING PROTEIN 7; THAP7
Asterisk 609519 TCF3 FUSION PARTNER; TFPT FB1;; AMIDA, RAT, HOMOLOG OF TFPT/E2A FUSION GENE, INCLUDED
Asterisk 609520 THAP DOMAIN-CONTAINING PROTEIN 1; THAP1
Asterisk 609521 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 1; SLC30A1 ZINC TRANSPORTER 1; ZNT1
Asterisk 609522 ELONGIN A2; ELOA2 TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 3B; TCEB3B
Asterisk 609523 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2 FATTY ALDEHYDE DEHYDROGENASE; FALDH;; ALDEHYDE DEHYDROGENASE 10; ALDH10
Number Sign 609524 MYOPATHY, MYOFIBRILLAR, 5; MFM5 MYOPATHY, MYOFIBRILLAR, FILAMIN C-RELATED;; FILAMINOPATHY, AUTOSOMAL DOMINANT
Asterisk 609525 TENSION-INDUCED/INHIBITED PROTEIN TIP;; FLJ13984
Asterisk 609526 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4; PLEKHG4 PURATROPHIN 1;; PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1
Asterisk 609527 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 5; RAPGEF5 GUANINE NUCLEOTIDE EXCHANGE FACTOR FOR RAP1; GFR;; MRAS-REGULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR; MRGEF;; KIAA0277
Number Sign 609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME CEDNIK SYNDROME
Number Sign 609529 IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2 IMMUNOGLOBULIN A, SELECTIVE DEFICIENCY OF, TACI-RELATED;; IgA, SELECTIVE DEFICIENCY OF, TACI-RELATED
Asterisk 609530 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; RAPGEF2 NEURAL RAP GUANINE NUCLEOTIDE EXCHANGE PROTEIN; NRAPGEP;; RAS-ASSOCIATING GUANINE NUCLEOTIDE EXCHANGE FACTOR; RAGEF;; PDZ DOMAIN-CONTAINING GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; PDZGEF1;; KIAA0313
Asterisk 609531 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 3; RASGRP3 GRP3;; KIAA0846
Number Sign 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO HCV, SUSCEPTIBILITY TO HEPATITIS C VIRUS, RESISTANCE TO, INCLUDED;; HCV, RESISTANCE TO, INCLUDED;; HEPATITIS C VIRUS INFECTION, RESPONSE TO THERAPY OF, INCLUDED
Number Sign 609533 DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23
Asterisk 609534 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 5; ATAD5 CHROMOSOME 17 OPEN READING FRAME 41; C17ORF41;; FRAG1;; ENHANCED LEVEL OF GENOMIC INSTABILITY 1; ELG1;; FLJ12735
Number Sign 609535 DRUG METABOLISM, POOR, CYP2C19-RELATED MEPHENYTOIN, POOR METABOLISM OF, INCLUDED;; OMEPRAZOLE, POOR METABOLISM OF, INCLUDED;; PROGUANIL, POOR METABOLISM OF, INCLUDED;; CLOPIDOGREL, POOR METABOLISM OF, INCLUDED
Number Sign 609536 COMPLEMENT COMPONENT 5 DEFICIENCY; C5D C5 DEFICIENCY
NULL 609537 LIPOMYELOMENINGOCELE
Asterisk 609538 PROTEIN-TYROSINE PHOSPHATASE, MITOCHONDRIAL, 1; PTPMT1 PTEN-LIKE PHOSPHATASE; PLIP;; PHOSPHOINOSITIDE LIPID PHOSPHATASE
Asterisk 609539 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 2; ARID2 ARID-CONTAINING PROTEIN 2;; BRG1-ASSOCIATED FACTOR, 200-KD; BAF200;; KIAA1557
Asterisk 609540 WD REPEAT-CONTAINING PROTEIN 61; WDR61 SKI8, YEAST, HOMOLOG OF; SKI8
Number Sign 609541 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN
Asterisk 609542 ATPase, CLASS I, TYPE 8A, MEMBER 1; ATP8A1 ATPase II
Asterisk 609543 BEYLA GENE BEYLA;; LOC497634
Asterisk 609544 CENTRIOLAR COILED-COIL PROTEIN, 110-KD; CCP110 CENTROSOMAL PROTEIN, 110-KD; CP110;; KIAA0419
NULL 609545 OMPHALOCELE, DIAPHRAGMATIC HERNIA, AND RADIAL RAY DEFECTS GERSHONI-BARUCH SYNDROME
Asterisk 609546 UBIQUITIN-SPECIFIC PROTEASE 29; USP29 HOM-TES-84/86
Caret 609547 MOVED TO 131200
Asterisk 609548 LMAN1-LIKE PROTEIN; LMAN1L ERGIC53-LIKE PROTEIN; ERGL
Number Sign 609549 NANOPHTHALMOS 2; NNO2 NANOPHTHALMIA 2;; NANOPHTHALMOS, AUTOSOMAL RECESSIVE
Asterisk 609550 ZINC FINGER PROTEIN 330; ZNF330 NUCLEOLAR CYSTEINE-RICH PROTEIN;; NUCLEOLAR AUTOANTIGEN, 36-KD; NOA36
Asterisk 609551 LECTIN, MANNOSE-BINDING, 2; LMAN2 VIP36;; GP36B
Asterisk 609552 LMAN2-LIKE PROTEIN; LMAN2L VIP36-LIKE PROTEIN; VIPL
Asterisk 609553 RETBINDIN RTBDN
Asterisk 609554 INTEGRAL MEMBRANE PROTEIN 2C; ITM2C BRI3
Asterisk 609555 CARBOXYPEPTIDASE X, M14 FAMILY, MEMBER 1; CPXM1 CPXM;; CPX1
Asterisk 609556 ATPase, TYPE 13A4; ATP13A4
Asterisk 609557 PROLYL ENDOPEPTIDASE-LIKE; PREPL KIAA0436
Percent 609558 PROSTATE CANCER, HEREDITARY, 6 HPC6
Asterisk 609559 CALMODULIN LYSINE N-METHYLTRANSFERASE; CAMKMT CHROMOSOME 2 OPEN READING FRAME 34; C2ORF34
Number Sign 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2 MITOCHONDRIAL DNA DEPLETION MYOPATHY, TK2-RELATED
Asterisk 609561 CARBOXYPEPTIDASE A5; CPA5
Asterisk 609562 CARBOXYPEPTIDASE A6; CPA6 CPAH
Asterisk 609563 CARBOXYPEPTIDASE O; CPO
Asterisk 609564 POLY(ADP-RIBOSE) POLYMERASE 10; PARP10
Asterisk 609565 MAST CELL-EXPRESSED MEMBRANE PROTEIN 1 MCEMP1
Percent 609566 PARIETAL FORAMINA 3; PFM3
Asterisk 609567 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 3; PNPLA3 ADIPONUTRIN; ADPN;; PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, EPSILON;; IPLA2-EPSILON
Asterisk 609568 RHO GTPase-ACTIVATING PROTEIN 20; ARHGAP20 GTPase-ACTIVATING PROTEIN, RHO, 20;; RA AND RHOGAP DOMAINS-CONTAINING PROTEIN; RARHOGAP;; KIAA1391
Caret 609569 MOVED TO 132100
Percent 609570 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 8 MGR8
Asterisk 609571 ZINC FINGER PROTEIN 699; ZNF699 HANGOVER, DROSOPHILA, HOMOLOG OF; HANG;; FLJ38144
Percent 609572 PHOTOPAROXYSMAL RESPONSE 2; PPR2 PHOTOPAROXYSMAL RESPONSE WITH OR WITHOUT IDIOPATHIC GENERALIZED EPILEPSY
Percent 609573 PHOTOPAROXYSMAL RESPONSE 3; PPR3 PHOTOPAROXYSMAL RESPONSE WITH OR WITHOUT MYOCLONIC EPILEPSY
Asterisk 609574 17-BETA-HYDROXYSTEROID DEHYDROGENASE XII; HSD17B12 17-BETA-HSD XII;; 3-KETOACYL-CoA REDUCTASE; KAR
Asterisk 609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL VLCAD
Asterisk 609576 ACYL-CoA DEHYDROGENASE, LONG-CHAIN; ACADL LCAD
Asterisk 609577 CULLIN 7; CUL7 KIAA0076
Percent 609578 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 2; RCM2
Number Sign 609579 SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
Asterisk 609580 NINEIN-LIKE PROTEIN; NINL NLP;; KIAA0980
Caret 609581 MOVED TO 130720
Asterisk 609582 MICRO RNA 122A; MIR122A miRNA122A;; miRNA122;; MIRN122A;; MIR122
Number Sign 609583 JOUBERT SYNDROME 4; JBTS4
Asterisk 609584 L-2-HYDROXYGLUTARATE DEHYDROGENASE; L2HGDH DURANIN;; C14ORF160
Asterisk 609585 COMPLEXIN 3; CPLX3 CPX III
Asterisk 609586 COMPLEXIN 4; CPLX4 CPX IV
Asterisk 609587 REGULATOR OF CHROMOSOME CONDENSATION 2; RCC2 TD60;; KIAA1470
Asterisk 609588 GLUTAREDOXIN 5; GLRX5 GRX5;; C14ORF87;; PRO1238;; FLB4739
Asterisk 609589 MITOCHONDRIAL TUMOR SUPPRESSOR GENE 1; MTUS1 MTSG1;; ANGIOTENSIN II RECEPTOR 2-INTERACTING PROTEIN; ATIP;; AGTR2-INTERACTING PROTEIN;; KIAA1288
Asterisk 609590 QUAKING, MOUSE, HOMOLOG OF; QKI QK1;; QK
Asterisk 609591 RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 1; RIT1 RAS-LIKE PROTEIN EXPRESSED IN MANY TISSUES; RIT;; ROC1
Asterisk 609592 RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 2; RIT2 RAS-LIKE PROTEIN EXPRESSED IN NEURONS; RIN;; ROC2
Asterisk 609593 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 16A; LRRC16A LRRC16;; CARMIL, DICTYOSTELIUM, HOMOLOG OF; CARMIL
Asterisk 609594 VENTRICULAR ZONE-EXPRESSED PH DOMAIN-CONTAINING PROTEIN, ZEBRAFISH, HOMOLOG OF, 1; VEPH1 MELTED, DROSOPHILA, HOMOLOG OF; MELT;; KIAA1692
Asterisk 609595 R-SPONDIN FAMILY, MEMBER 1; RSPO1 ROOF PLATE-SPECIFIC SPONDIN, MOUSE, HOMOLOG OF;; R-SPONDIN; RSPO;; CRISTIN3;; FLJ40906
Asterisk 609596 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT K; EIF3K EIF3-p28;; PLAC24;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 12, FORMERLY; EIF3S12, FORMERLY
Number Sign 609597 PARIETAL FORAMINA 2; PFM2
Asterisk 609598 ZINC FINGER AND HOMEODOMAIN PROTEIN 3; ZHX3 KIAA0395
Asterisk 609599 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 1; ANKRD1 CARDIAC ANKYRIN REPEAT PROTEIN; CARP;; C193
Asterisk 609600 ZINC FINGER PROTEIN 396; ZNF396
Asterisk 609601 ZINC FINGER PROTEIN 397; ZNF397
Asterisk 609602 ZINC FINGER PROTEIN 393; ZNF393 KRUPPEL-LIKE FACTOR 17; KLF17
Asterisk 609603 CRYSTALLIN, GAMMA-N; CRYGN
Asterisk 609604 MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, BETA; MAP1LC3B LC3B
Asterisk 609605 MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, GAMMA; MAP1LC3C LC3C
Asterisk 609606 AUTOPHAGY 3, S. CEREVISIAE, HOMOLOG OF; ATG3 APG3, S. CEREVISIAE, HOMOLOG OF; APG3;; APG3-LIKE; APG3L
Asterisk 609607 NECTIN 4; NECTIN4 POLIOVIRUS RECEPTOR-LIKE 4; PVRL4;; POLIOVIRUS RECEPTOR-RELATED 4; PRR4
Asterisk 609608 AUTOPHAGY 12, S. CEREVISIAE, HOMOLOG OF; ATG12 APG12, S. CEREVISIAE, HOMOLOG OF; APG12;; AGP12-LIKE; APG12L;; FBR93
Caret 609609 MOVED TO 231530
Asterisk 609610 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 4; TUBGCP4 GAMMA-TUBULIN COMPLEX COMPONENT 4; GCP4
Asterisk 609611 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER E; ANP32E LEUCINE-RICH ACIDIC NUCLEAR PROTEIN-LIKE; LANPL
NULL 609612 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE CONGENITAL FIBROSIS SYNDROME WITH SYNERGISTIC DIVERGENCE;; EXTERNAL OPHTHALMOPLEGIA WITH SYNERGISTIC DIVERGENCE EXTERNAL OPHTHALMOPLEGIA, SYNERGISTIC DIVERGENCE, JAW WINKING, AND OCULOCUTANEOUS HYPOPIGMENTATION, INCLUDED
Asterisk 609613 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 2; PLEKHM2 SIFA- AND KINESIN-INTERACTING PROTEIN; SKIP;; KIAA0842
Asterisk 609614 RNA EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; REXO1 REX1, S. CEREVISIAE, HOMOLOG OF; REX1;; ELONGIN A-BINDING PROTEIN 1; ELOABP1;; TRANSCRIPTION ELONGATION FACTOR B POLYPEPTIDE 3-BINDING PROTEIN 1; TCEB3BP1;; KIAA1138
Asterisk 609615 QUEUINE tRNA-RIBOSYLTRANSFERASE 1; QTRT1 tRNA-GUANINE TRANSGLYCOSYLASE; TGT;; TGT, 43-KD SUBUNIT;; TGT, CATALYTIC SUBUNIT
NULL 609616 SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE CALCIFICATIONS, AND DEAFNESS
Asterisk 609617 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 2; SLC30A2 ZINC TRANSPORTER 2; ZNT2
Asterisk 609618 NONCODING REPRESSOR OF NFAT; NRON
Asterisk 609619 GOLGIN A8 FAMILY, MEMBER B; GOLGA8B GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 8B
Number Sign 609620 SHORT QT SYNDROME 1; SQT1
Number Sign 609621 SHORT QT SYNDROME 2; SQT2
Number Sign 609622 SHORT QT SYNDROME 3; SQT3
Asterisk 609623 RAS-INTERACTING PROTEIN 1; RASIP1 RAIN
Asterisk 609624 MITOCHONDRIAL COILED-COIL DOMAIN 1; MCCD1
Number Sign 609625 CHROMOSOME 10q26 DELETION SYNDROME TERMINAL CHROMOSOME 10q26 DELETION SYNDROME
Asterisk 609626 MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 1; MDGA1 MAM DOMAIN-CONTAINING PROTEIN 3; MAMDC3;; GLYCOSYLPHOSPHATIDYLINOSITOL-MAM; GPIM
Asterisk 609627 TASTE RECEPTOR, TYPE 2, MEMBER 50; TAS2R50 T2R50;; TAS2R51; T2R51
Number Sign 609628 MAJEED SYNDROME; MJDS CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS, CONGENITAL DYSERYTHROPOIETIC ANEMIA, AND NEUTROPHILIC DERMATOSIS
Percent 609629 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL DOMINANT ENTERIC NEUROPATHY, FAMILIAL;; PSEUDOOBSTRUCTION, CHRONIC INTESTINAL, NEUROPATHIC;; PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL
Percent 609630 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1 CLLS1
Asterisk 609631 DEAD BOX POLYPEPTIDE 58; DDX58 DEAD/H BOX 58;; RETINOIC ACID-INDUCIBLE GENE I; RIGI
Asterisk 609632 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE DOMAIN-CONTAINING PROTEIN 5; GDPD5 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 2; GDE2;; PP1665
Percent 609633 MAJOR AFFECTIVE DISORDER 3; MAFD3 BIPOLAR AFFECTIVE DISORDER, EARLY-ONSET; BPEO
Number Sign 609634 MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3
Asterisk 609635 TRANSCRIPTION FACTOR 23; TCF23 OUT
Percent 609636 ALZHEIMER DISEASE 10 ALZHEIMER DISEASE, FAMILIAL, 10;; AD10
Number Sign 609637 HOLOPROSENCEPHALY 5; HPE5
Number Sign 609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA; LAEB
Asterisk 609639 HEMOGLOBIN MU HBM
Number Sign 609640 FRIAS SYNDROME CHROMOSOME 14q22 DELETION SYNDROME;; GROWTH DEFICIENCY, FACIAL ANOMALIES, AND BRACHYDACTYLY
Asterisk 609641 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT M; EIF3M PCI DOMAIN-CONTAINING PROTEIN 1; PCID1;; HUMAN FETAL LUNG PROTEIN B5; HFLB5; B5;; DENDRITIC CELL PROTEIN GA17; GA17
Asterisk 609642 T-CELL ANTIGEN RECEPTOR, GAMMA SUBUNIT, ALTERNATE READING FRAME PROTEIN TCRG ALTERNATE READING FRAME PROTEIN; TARP
Percent 609643 NGUYEN SYNDROME MCA/MR WITH HYPOCHOLESTEROLEMIA DUE TO FAMILIAL HYPOBETALIPOPROTEINEMIA
Asterisk 609644 FANCM GENE; FANCM FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 250-KD; FAAP250;; KIAA1596
Asterisk 609645 NLR FAMILY, PYRIN DOMAIN-CONTAINING 4; NLRP4 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 4; NALP4;; PYRIN DOMAIN- AND NACHT DOMAIN-CONTAINING PROTEIN 2; PAN2;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 4; PYPAF4
Number Sign 609646 DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42
Percent 609647 DEAFNESS, AUTOSOMAL RECESSIVE 46; DFNB46
Asterisk 609648 NLR FAMILY, PYRIN DOMAIN-CONTAINING 12; NLRP12 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 12; NALP12;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 7; PYPAF7;; REGULATED BY NITRIC OXIDE; RNO;; MONARCH 1
Percent 609649 TRICHILEMMAL CYST 1; TRICY1 TRICHOLEMMAL CYST;; PILAR CYST
Asterisk 609650 NLR FAMILY, PYRIN DOMAIN-CONTAINING 6; NLRP6 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 6; NALP6;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 5; PYPAF5
Asterisk 609651 GLYCOPROTEIN HORMONE, ALPHA-2; GPHA2 GPA2; A2
Asterisk 609652 GLYCOPROTEIN HORMONE, BETA-5; GPHB5 GPB5; B5
Asterisk 609653 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 2; NDUFAF2 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 2;; NDUFA12-LIKE; NDUFA12L;; MYC-INDUCED MITOCHONDRIAL PROTEIN;; MIMITIN; MMTN;; B17.2-LIKE;; B17.2L
NULL 609654 SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS
NULL 609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS
Percent 609656 BONE SIZE QUANTITATIVE TRAIT LOCUS 1 BSZQTL1
Percent 609657 BONE SIZE QUANTITATIVE TRAIT LOCUS 2 BSZQTL2
Asterisk 609658 NLR FAMILY, PYRIN DOMAIN-CONTAINING 5; NLRP5 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 5; NALP5;; MATER, MOUSE, HOMOLOG OF; MATER
Asterisk 609659 NLR FAMILY, PYRIN DOMAIN-CONTAINING 8; NLRP8 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 8; NALP8;; PYRIN DOMAIN- AND NACHT DOMAIN-CONTAINING PROTEIN 4; PAN4;; NOD16
Asterisk 609660 NLR FAMILY, PYRIN DOMAIN-CONTAINING 13; NLRP13 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 13; NALP13;; NOD14
Asterisk 609661 NLR FAMILY, PYRIN DOMAIN-CONTAINING 7; NLRP7 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 7; NALP7;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 3; PYPAF3;; NOD12
Asterisk 609662 NLR FAMILY, PYRIN DOMAIN-CONTAINING 10; NLRP10 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 10; NALP10;; PYNOD;; NOD8
Asterisk 609663 NLR FAMILY, PYRIN DOMAIN-CONTAINING 9; NLRP9 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 9; NALP9;; NOD6
Asterisk 609664 NLR FAMILY, PYRIN DOMAIN-CONTAINING 11; NLRP11 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 11; NALP11;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 7; PYPAF7;; NOD17
Asterisk 609665 NLR FAMILY, PYRIN DOMAIN-CONTAINING 14; NLRP14 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 14; NALP14;; NOD5
Asterisk 609666 TWO-PORE SEGMENT CHANNEL 1; TPCN1 TWO-PORE CHANNEL 1; TPC1;; KIAA1169
Asterisk 609667 T-CELL ACTIVATION GTPase-ACTIVATING PROTEIN; TAGAP
Asterisk 609668 PTC7 PROTEIN PHOSPHATASE, S. CEREVISIAE, HOMOLOG OF; PPTC7 T-CELL ACTIVATION PROTEIN PHOSPHATASE 2C; TAPP2C
Asterisk 609669 WD REPEAT-CONTAINING PROTEIN 36; WDR36 T-CELL ACTIVATION WD REPEAT-CONTAINING PROTEIN; TAWDRP;; UTP21, S. CEREVISIAE, HOMOLOG OF; UTP21
Percent 609670 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 9 MGR9
Asterisk 609671 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 3; STEAP3 TUMOR SUPPRESSOR-ACTIVATED PATHWAY 6; TSAP6
Asterisk 609672 EXOCYST COMPLEX COMPONENT 6; EXOC6 SEC15-LIKE 1; SEC15L1;; SEC15L;; SEC15, S. CEREVISIAE, HOMOLOG OF; SEC15
Asterisk 609673 PLATELET-DERIVED GROWTH FACTOR D; PDGFD SPINAL CORD-DERIVED GROWTH FACTOR B; SCDGFB;; IRIS-EXPRESSED GROWTH FACTOR; IEGF
Asterisk 609674 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 1; ESCO1 ECO1, S. CEREVISIAE, HOMOLOG OF, 1;; CTF7, S. CEREVISIAE, HOMOLOG OF, 1;; ESO1, S. POMBE, HOMOLOG OF, 1;; ESTABLISHMENT FACTOR ORTHOLOG 1; EFO1;; KIAA1911
Asterisk 609675 SCLEROSTIN DOMAIN-CONTAINING PROTEIN 1; SOSTDC1 ECTODERMAL BMP INHIBITOR;; ECTODIN;; UTERINE SENSITIZATION-ASSOCIATED GENE 1; USAG1;; WISE
Asterisk 609676 MITOCHONDRIAL ANTIVIRAL SIGNALING PROTEIN; MAVS VIRUS-INDUCED SIGNALING ADAPTOR; VISA;; IFNB PROMOTER STIMULATOR 1; IPS1;; CARD ADAPTOR INDUCING IFNB; CARDIF;; KIAA1271
Asterisk 609677 OSTEOSARCOMA-AMPLIFIED GENE 9; OS9 AMPLIFIED IN OSTEOSARCOMA 9;; ENDOPLASMIC RETICULUM LECTIN OS9
Asterisk 609678 SLIT- AND NTRK-LIKE FAMILY, MEMBER 1; SLITRK1 KIAA1910
Asterisk 609679 SLIT- AND NTRK-LIKE FAMILY, MEMBER 3; SLITRK3 KIAA0848
Asterisk 609680 SLIT- AND NTRK-LIKE FAMILY, MEMBER 5; SLITRK5 KIAA0918
Asterisk 609681 SLIT- AND NTRK-LIKE FAMILY, MEMBER 6; SLITRK6
Asterisk 609682 DNA CROSS-LINK REPAIR PROTEIN 1A; DCLRE1A SNM1, S. CEREVISIAE, HOMOLOG OF; SNM1;; SNM1, S. CEREVISIAE, HOMOLOG OF, A; SNM1A;; KIAA0086
Asterisk 609683 DNA CROSS-LINK REPAIR PROTEIN 1B; DCLRE1B SNM1, S. CEREVISIAE, HOMOLOG OF, B; SNM1B;; APOLLO
Asterisk 609684 MAL PROTEOLIPID PROTEIN 2; MAL2
Asterisk 609685 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 7-LIKE; CDCA7L CDCA7-LIKE;; R1;; JPO2
Asterisk 609686 CITRATE LYASE BETA-LIKE; CLYBL CITRATE LYASE, BETA SUBUNIT; CLB
Asterisk 609687 MICRO RNA 196A2; MIR196A2 miRNA196A2;; MIRN196A2
Asterisk 609688 MICRO RNA 196B; MIR196B miRNA196B;; MIRN196B
Asterisk 609689 CENTROSOMAL PROTEIN 2; CEP2 CENTROSOMAL PROTEIN, 250-KD; CEP250;; CENTROSOMAL NEK2-ASSOCIATED PROTEIN 1; CNAP1
Asterisk 609690 PHENYLALANINE-tRNA SYNTHETASE, BETA SUBUNIT; FARSB PHENYLALANINE-tRNA SYNTHETASE, CYTOPLASMIC, BETA SUBUNIT; FRSB;; PHENYLALANINE-tRNA SYNTHETASE-LIKE, BETA SUBUNIT; FARSLB;; PHERSB
Asterisk 609691 FORMIN HOMOLOGY-2 DOMAIN-CONTAINING PROTEIN 3; FHOD3 FH1/FH2 DOMAIN-CONTAINING PROTEIN 2; FHOS2;; KIAA1695
Asterisk 609692 WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 2; WIPF2 WASP-INTERACTING PROTEIN-RELATED PROTEIN; WIRE;; WIP-RELATED PROTEIN;; WIP- AND CR16-HOMOLOGOUS PROTEIN; WICH
Asterisk 609693 VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 7; VWA7 CHROMOSOME 6 OPEN READING FRAME 27; C6ORF27;; G7C
Asterisk 609694 GEM-INTERACTING PROTEIN; GMIP
Asterisk 609695 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE; HPD 4-HYDROXYPHENYLPYRUVIC ACID OXIDASE
Asterisk 609696 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 4B; ARID4B ARID-CONTAINING PROTEIN 4B;; SIN3A-ASSOCIATED PROTEIN, 180-KD; SAP180;; RETINOBLASTOMA-BINDING PROTEIN 1-LIKE PROTEIN 1; RBP1L1;; RBBP1-LIKE PROTEIN 1; RBBP1L1;; BREAST CANCER-ASSOCIATED ANTIGEN 1; BRCAA1
Asterisk 609697 SIN3A-ASSOCIATED PROTEIN, 130-KD; SAP130
Number Sign 609698 THYROID HORMONE METABOLISM, ABNORMAL
Asterisk 609699 MONOGLYCERIDE LIPASE; MGLL MGL;; MONOACYLGLYCEROL LIPASE; MAGL;; HUK5
Asterisk 609700 RAB GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; RABGEF1 RABAPTIN 5-ASSOCIATED EXCHANGE FACTOR FOR RAB5; RABEX5
Asterisk 609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU N-ACETYL-ALPHA-D-GLUCOSAMINIDASE;; N-ACETYL-ALPHA-GLUCOSAMINIDASE
Asterisk 609702 PROTEASOME ASSEMBLY CHAPERONE 2; PSMG2 PAC2;; TNFSF5-INDUCED PROTEIN 1; TNFSF5IP1;; HEPATOCELLULAR CARCINOMA-ASSOCIATED PROTEIN 3; HCCA3;; CD40 LIGAND-ACTIVATED SPECIFIC TRANSCRIPT 3; CLAST3
Asterisk 609703 MICRO RNA 15A; MIR15A miRNA15A;; MIRN15A
Asterisk 609704 MICRO RNA 16-1; MIR16-1 miRNA16-1;; MIRN16-1
Asterisk 609705 MICRO RNA 24-1; MIR24-1 miRNA24-1;; MIRN24-1 MICRO RNA 189, INCLUDED; miRNA189, INCLUDED; MIR189, INCLUDED
Number Sign 609706 DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53
Asterisk 609707 DIHYDROURIDINE SYNTHASE 2-LIKE; DUS2L DIHYDROURIDINE SYNTHASE 2, S. CEREVISIAE, HOMOLOG OF; DUS2
Plus 609708 LIPOPROTEIN LIPASE; LPL HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11, INCLUDED; HDLCQ11, INCLUDED
Asterisk 609709 GLYCOSYLTRANSFERASE-LIKE 1B; GYLTL1B LIKE-GLYCOSYLTRANSFERASE 2;; LARGE2
Asterisk 609710 DENDRITIC CELL-ASSOCIATED NUCLEAR PROTEIN 1; DCANP1 DCNP1;; CHROMOSOME 5 OPEN READING FRAME 20; C5ORF20
Asterisk 609711 UBIQUINOL-CYTOCHROME c REDUCTASE, 6.4-KD SUBUNIT; UQCR
Asterisk 609712 PYRUVATE KINASE, LIVER AND RED BLOOD CELL; PKLR PKRL;; PYRUVATE KINASE, LIVER TYPE; PKL;; PYRUVATE KINASE, RED CELL TYPE; PKR;; PYRUVATE KINASE 1; PK1
Asterisk 609713 HYDROXYUREA-SENSITIVE 1, S. POMBE, HOMOLOG OF, B; HUS1B
Asterisk 609714 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 1; TREML1 TREM-LIKE PROTEIN 1;; TREM-LIKE TRANSCRIPT 1; TLT1
Asterisk 609715 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 2; TREML2 TREM-LIKE PROTEIN 2;; TREM-LIKE TRANSCRIPT 2; TLT2
Asterisk 609716 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 3; TREML3 TREM-LIKE PROTEIN 3;; TREM-LIKE TRANSCRIPT 3; TLT3
Asterisk 609717 PROSTATE CANCER-ASSOCIATED TRANSCRIPT 4; PCAT4 GENE DIFFERENTIALLY EXPRESSED IN PROSTATE; GDEP
Asterisk 609718 LHFP-LIKE PROTEIN 2; LHFPL2 KIAA0206
Asterisk 609719 LHFP-LIKE PROTEIN 3; LHFPL3 LHFPL TETRASPAN SUBFAMILY, MEMBER 3
Asterisk 609720 CRUMBS, DROSOPHILA, HOMOLOG OF, 2; CRB2
Asterisk 609721 POLYCYSTIN 1-LIKE 1; PKD1L1
Asterisk 609722 PDZ AND LIM DOMAIN PROTEIN 2; PDLIM2 MYSTIQUE;; STAT-INTERACTING LIM PROTEIN; SLIM
Asterisk 609723 YIPPEE-LIKE 2; YPEL2
Asterisk 609724 YIPPEE-LIKE 3; YPEL3
Asterisk 609725 YIPPEE-LIKE 4; YPEL4
Asterisk 609726 YIPPEE-LIKE 5; YPEL5
Percent 609727 SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29
Asterisk 609728 METHIONYL-tRNA SYNTHETASE 2; MARS2 METHIONINE tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL METRS
Asterisk 609729 PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 3; PDZRN3 KIAA1095
Asterisk 609730 PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 4; PDZRN4
Asterisk 609731 CYSTATIN 11; CST11 CST8L
Asterisk 609732 LIGAND OF NUMB PROTEIN X1; LNX1 LIGAND OF NUMB PROTEIN X; LNX;; PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 2; PDZRN2
Asterisk 609733 LIGAND OF NUMB PROTEIN X2; LNX2 PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 1; PDZRN1
Number Sign 609734 OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR; OBAIRH PROOPIOMELANOCORTIN DEFICIENCY
Asterisk 609735 RING FINGER AND FYVE-LIKE DOMAIN CONTAINING 1; RFFL RIFIFYLIN
Asterisk 609736 COILED-COIL DOMAIN-CONTAINING PROTEIN 88A; CCDC88A HOOK RELATED PROTEIN 1; HKRP1;; GIRDERS OF ACTIN FILAMENT; GIRDIN;; AKT PHOSPHORYLATION ENHANCER; APE;; G-ALPHA-INTERACTING VESICLE-ASSOCIATED PROTEIN; GIV;; KIAA1212
Asterisk 609737 CRUMBS, DROSOPHILA, HOMOLOG OF, 3; CRB3
Asterisk 609738 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 9; IGSF9 KIAA1355
Asterisk 609739 IMMUNOGLOBULIN-LIKE DOMAIN-CONTAINING RECEPTOR 1; ILDR1
Asterisk 609740 PHD FINGER PROTEIN 19; PHF19
Number Sign 609741 CATARACT 22, MULTIPLE TYPES; CTRCT22 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2; CATCN2
Asterisk 609742 INTERLEUKIN 4-INDUCED GENE 1; IL4I1 IL4-INDUCED GENE 1;; FIG1
Asterisk 609743 CELL ADHESION MOLECULE 3; CADM3 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4B; IGSF4B;; TSLC1-LIKE GENE 1; TSLL1;; NECTIN-LIKE PROTEIN 1; NECL1;; SYNAPTIC CELL ADHESION MOLECULE 3; SYNCAM3
Asterisk 609744 CELL ADHESION MOLECULE 4; CADM4 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4C; IGSF4C;; TSLC1-LIKE GENE 2; TSLL2;; NECTIN-LIKE PROTEIN 4; NECL4;; SYNAPTIC CELL ADHESION MOLECULE 4; SYNCAM4
Percent 609745 GLAUCOMA 1, OPEN ANGLE, I; GLC1I
Asterisk 609746 RHO GTPase-ACTIVATING PROTEIN 10; ARHGAP10 GTPase-ACTIVATING PROTEIN, RHO, 10;; PSGAP;; GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE 2; GRAF2
Asterisk 609747 ACTIN-BINDING RHO-ACTIVATING PROTEIN; ABRA STRIATED MUSCLE ACTIVATOR OF RHO SIGNALING; STARS
Asterisk 609748 UBIQUITIN-LIKE 7; UBL7
Asterisk 609749 UDP-GLUCURONATE DECARBOXYLASE 1; UXS1 UGD
Percent 609750 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 4; EIG4 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 10
Asterisk 609751 ACYL-CoA OXIDASE 1, PALMITOYL; ACOX1 ACYL-CoA OXIDASE, PALMITOYL, PEROXISOMAL;; ACYL-CoA OXIDASE; ACOX;; PALMITOYL-CoA OXIDASE;; ACYL-CoA OXIDASE, STRAIGHT-CHAIN; SCOX
Asterisk 609752 NUCLEAR RECEPTOR COACTIVATOR 7; NCOA7 ERAP140
Number Sign 609753 CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 4
Percent 609754 CELIAC DISEASE, SUSCEPTIBILITY TO, 2; CELIAC2 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 2
Number Sign 609755 CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3
Asterisk 609756 CHRNA7/FAM7A FUSION GENE; CHRFAM7A
Number Sign 609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME WBS DUPLICATION SYNDROME;; CHROMOSOME 7q11.23 DUPLICATION SYNDROME;; SOMERVILLE-VAN DER AA SYNDROME WBS TRIPLICATION SYNDROME, INCLUDED;; CHROMOSOME 7q11.23 TRIPLICATION SYNDROME, INCLUDED
Asterisk 609758 Na+/K+ TRANSPORTING ATPase-INTERACTING 2; NKAIN2 Na+/K+ TRANSPORTING ATPase-INTERACTING PROTEIN 2; NKAIP2;; SODIUM/POTASSIUM TRANSPORTING ATPase-INTERACTING PROTEIN 2;; T-CELL LYMPHOMA BREAKPOINT-ASSOCIATED TARGET 1; TCBA1 TCBA1/SUSP1 FUSION GENE, INCLUDED;; ENCEPHALOPATHY, SPASTIC TETRAPARESIS, AND HYPOGONADISM, INCLUDED;; DEVELOPMENTAL DELAY AND RECURRENT INFECTIONS, INCLUDED
Asterisk 609759 PR DOMAIN-CONTAINING PROTEIN 7; PRDM7
Asterisk 609760 PR DOMAIN-CONTAINING PROTEIN 9; PRDM9 MEISETZ, MOUSE, HOMOLOG OF; MEISETZ
Asterisk 609761 TRIO- AND F-ACTIN-BINDING PROTEIN; TRIOBP TRIO- AND FILAMENTOUS-ACTIN-BINDING PROTEIN;; TRIO-ASSOCIATED REPEAT ON ACTIN; TARA;; KIAA1662
Asterisk 609762 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 3; BLOC1S3 BLOC1, SUBUNIT 3; BLOS3;; REDUCED PIGMENTATION, MOUSE, HOMOLOG OF; RP;; HPS8 GENE; HPS8
Asterisk 609763 PHOSPHATIDYLINOSITOL 4-KINASE, TYPE 2, ALPHA; PI4K2A PHOSPHATIDYLINOSITOL 4-KINASE, TYPE II;; PI4KII;; PI4KII-ALPHA
Asterisk 609764 LYSINE-SPECIFIC DEMETHYLASE 4A; KDM4A JUMONJI DOMAIN-CONTAINING PROTEIN 2A; JMJD2A;; JHDM3A;; KIAA0677
Asterisk 609765 LYSINE-SPECIFIC DEMETHYLASE 4B; KDM4B JUMONJI DOMAIN-CONTAINING PROTEIN 2B; JMJD2B;; KIAA0876
Asterisk 609766 JUMONJI DOMAIN-CONTAINING PROTEIN 2D; JMJD2D
Asterisk 609767 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 28; SLC25A28 MITOFERRIN 2; MFRN2;; MRS3/4;; NPD016;; MRS4L
Asterisk 609768 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 2; BLOC1S2 BLOC1, SUBUNIT 2; BLOS2
Asterisk 609769 SHORT CHAIN DEHYDROGENASE/REDUCTASE FAMILY 9C, MEMBER 7; SDR9C7 ORPHAN SHORT-CHAIN DEHYDROGENASE/REDUCTASE; SDRO
Asterisk 609770 ADHESION MOLECULE, INTERACTS WITH CXADR ANTIGEN 1; AMICA1 JUNCTIONAL ADHESION MOLECULE-LIKE; JAML
Asterisk 609771 UBINUCLEIN 1; UBN1
Asterisk 609772 CORTACTIN-BINDING PROTEIN 2; CTTNBP2 CORTBP2;; KIAA1758
Asterisk 609773 EP300-INTERACTING INHIBITOR OF DIFFERENTIATION 2; EID2 E1A-LIKE INHIBITOR OF DIFFERENTIATION 2;; CREBBP/EP300 INHIBITORY PROTEIN 2; CRI2
Asterisk 609774 APOPTOSIS INHIBITOR 5; API5 ANTIAPOPTOSIS CLONE 11; AAC11
Asterisk 609775 YIP1 DOMAIN FAMILY, MEMBER 3; YIPF3 KILLER LINEAGE PROTEIN 1; KLIP1
Asterisk 609776 PROLINE-RICH ACIDIC PROTEIN 1; PRAP1
Asterisk 609777 CARDIOMYOPATHY-ASSOCIATED PROTEIN 1; CMYA1 XIN
Asterisk 609778 CARDIOMYOPATHY-ASSOCIATED PROTEIN 3; CMYA3 XIN REPEAT PROTEIN 2; XIRP2;; MYOMAXIN
Asterisk 609779 NEVER IN MITOSIS GENE A-RELATED KINASE 11; NEK11 NIMA-RELATED KINASE 11
Asterisk 609780 CARBOXYPEPTIDASE, VITELLOGENIC-LIKE; CPVL HVLP
Caret 609781 MOVED TO 100070
Percent 609782 AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 2; AAA2
Asterisk 609783 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 5; ITIH5
Asterisk 609784 UPSTREAM BINDING PROTEIN 1; UBP1 LBP1A, INCLUDED;; LBP1B, INCLUDED
Asterisk 609785 TRANSCRIPTION FACTOR CP2-LIKE 1; TFCP2L1 CP2-RELATED TRANSCRIPTIONAL REPRESSOR 1; CRTR1;; LBP9
Asterisk 609786 GRAINYHEAD-LIKE 1; GRHL1 GRAINYHEAD, DROSOPHILA, HOMOLOG OF, 1;; MAMMALIAN GRAINYHEAD; MGR;; LBP32
Asterisk 609787 UBIQUITIN-ASSOCIATED PROTEIN 1; UBAP1 UBAP
Asterisk 609788 X-RAY RADIATION RESISTANCE-ASSOCIATED 1; XRRA1
Asterisk 609789 AQUAPORIN 12A; AQP12A AQP12;; AQPX2
Percent 609790 ALZHEIMER DISEASE 11 ALZHEIMER DISEASE, FAMILIAL, 11;; AD11
Asterisk 609791 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6A; LRRN6A LEUCINE-RICH REPEAT NEURONAL PROTEIN 1; LERN1;; LEUCINE-RICH REPEAT- AND Ig DOMAIN-CONTAINING NOGO RECEPTOR-INTERACTING PROTEIN 1; LINGO1
Asterisk 609792 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6B; LRRN6B LEUCINE-RICH REPEAT NEURONAL PROTEIN 2; LERN2;; LEUCINE-RICH REPEAT- AND Ig DOMAIN-CONTAINING NOGO RECEPTOR-INTERACTING PROTEIN 3; LINGO3
Asterisk 609793 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6C; LRRN6C LEUCINE-RICH REPEAT NEURONAL PROTEIN 3; LERN3;; LEUCINE-RICH REPEAT- AND Ig DOMAIN-CONTAINING NOGO RECEPTOR-INTERACTING PROTEIN 2; LINGO2
Asterisk 609794 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6D; LRRN6D LEUCINE-RICH REPEAT- AND Ig DOMAIN-CONTAINING NOGO RECEPTOR-INTERACTING PROTEIN 4; LINGO4
Asterisk 609795 PYROGLUTAMYLATED RF-AMIDE PEPTIDE PRECURSOR PROTEIN; QRFP QRFP PRECURSOR PROTEIN;; NEUROPEPTIDE RF-AMIDE PEPTIDE PRECURSOR;; P518 PRECURSOR PROTEIN NEUROPEPTIDE RF-AMIDE PEPTIDE, INCLUDED;; P518, INCLUDED;; RF-AMIDE PEPTIDE, 26-AMINO ACID, INCLUDED; 26RFA, INCLUDED;; PYROGLUTAMYLATED RF-AMIDE PEPTIDE, INCLUDED; QRFP, INCLUDED
Number Sign 609796 PEELING SKIN SYNDROME 2; PSS2 ACRAL PEELING SKIN SYNDROME; APSS;; PEELING SKIN SYNDROME, ACRAL TYPE
Asterisk 609797 BICAUDAL D, DROSOPHILA, HOMOLOG OF, 2; BICD2 KIAA0699
Asterisk 609798 NEVER IN MITOSIS GENE A-RELATED KINASE 9; NEK9 NIMA-RELATED KINASE 9;; NERCC1
Asterisk 609799 NEVER IN MITOSIS GENE A-RELATED KINASE 8; NEK8 NIMA-RELATED KINASE 8;; JCK, MOUSE, HOMOLOG OF;; NEPHROCYSTIN 9; NPHP9
Percent 609800 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4; GEFSP4 GEFS+, TYPE 4; GEFS+4
Asterisk 609801 CD300E ANTIGEN; CD300E CD300 ANTIGEN-LIKE FAMILY, MEMBER E; CD300LE;; IMMUNE RECEPTOR EXPRESSED BY MYELOID CELLS 2; IREM2;; CLM2
Asterisk 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 5; SLC24A5 SODIUM/CALCIUM/POTASSIUM EXCHANGER 5; NCKX5;; JSX
Asterisk 609803 ANKYRIN AND ARMADILLO REPEATS-CONTAINING PROTEIN; ANKAR FLJ25415
Asterisk 609804 WD REPEAT-CONTAINING PROTEIN 16; WDR16 WD40 REPEAT-CONTAINING PROTEIN UPREGULATED IN HEPATOCELLULAR CARCINOMA; WDRPUH
Asterisk 609805 SPERMATOGENESIS-ASSOCIATED PROTEIN 19; SPATA19 SPERGEN 1
Asterisk 609806 HYDROXYMETHYLBILANE SYNTHASE; HMBS PORPHOBILINOGEN DEAMINASE; PBGD;; PRE-UROPORPHYRINOGEN SYNTHASE;; UROPORPHYRINOGEN I SYNTHASE;; UROPORPHYRINOGEN I SYNTHETASE
Asterisk 609807 CD300 ANTIGEN-LIKE FAMILY, MEMBER F; CD300LF CD300F;; IMMUNOGLOBULIN SUPERFAMILY, MEMBER 13; IGSF13;; IMMUNE RECEPTOR EXPRESSED ON MYELOID CELLS 1; IREM1;; CLM1
NULL 609808 HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS PCFH
Asterisk 609809 LCK-INTERACTING TRANSMEMBRANE ADAPTOR 1; LIME1 LIME
Asterisk 609810 PATERNALLY EXPRESSED GENE 10; PEG10 KIAA1051;; EMBRYONAL CARCINOMA DIFFERENTIATION-REGULATED GENE; EDR
Asterisk 609811 CYTOCHROME C OXIDASE, SUBUNIT 7B2; COX7B2 CYTOCHROME C OXIDASE, SUBUNIT VIIb2
Number Sign 609812 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION; MODY8 DIABETES AND PANCREATIC EXOCRINE DYSFUNCTION; DPED;; DIABETES-PANCREATIC EXOCRINE DYSFUNCTION SYNDROME
Number Sign 609813 SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3
Number Sign 609814 COMPLEMENT FACTOR H DEFICIENCY; CFHD FACTOR H DEFICIENCY;; CFH DEFICIENCY
Percent 609815 ZYGODACTYLY 1 ZD1
Asterisk 609816 NEUROBEACHIN-LIKE 1; NBEAL1 ALS2 CHROMOSOME REGION GENE 17; ALS2CR17
Percent 609817 VASCULITIS, LYMPHOCYTIC, CUTANEOUS SMALL VESSEL
Asterisk 609818 UBIQUITIN-SPECIFIC PROTEIN 10; USP10 KIAA0190
Asterisk 609819 PROSTATE, RECTUM, AND COLON GENE 1; PRAC1 SMALL NUCLEAR PROTEIN PRAC
Number Sign 609820 ERYTHROCYTOSIS, FAMILIAL, 3; ECYT3
Number Sign 609821 BLEEDING DISORDER, PLATELET-TYPE, 8; BDPLT8 BLEEDING DISORDER DUE TO P2RY12 DEFECT
Percent 609822 STATURE QUANTITATIVE TRAIT LOCUS 7; STQTL7
Number Sign 609823 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28
Asterisk 609824 HORMA DOMAIN-CONTAINING 1; HORMAD1 NOHMA
Asterisk 609825 COQ2, S. CEREVISIAE, HOMOLOG OF; COQ2 PARAHYDROXYBENZOATE-POLYPRENYLTRANSFERASE, MITOCHONDRIAL
Asterisk 609826 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 3; SLC34A3 SODIUM/INORGANIC PHOSPHATE COTRANSPORTER, TYPE IIC; NPTIIC
Asterisk 609827 PELLINO, DROSOPHILA, HOMOLOG OF, 3; PELI3
Asterisk 609828 FIBRONECTIN TYPE III AND SPRY DOMAINS-CONTAINING PROTEIN 1; FSD1 GLFND
Asterisk 609829 FSD1 N-TERMINUS-LIKE PROTEIN; FSD1NL FSD1-LIKE PROTEIN; FSD1L;; MID1-RELATED PROTEIN 1; MIR1;; COILED-COIL DOMAIN-CONTAINING PROTEIN 10; CCDC10
Caret 609830 REMOVED FROM DATABASE
Asterisk 609831 MMACHC GENE; MMACHC
Asterisk 609832 SOLUTE CARRIER FAMILY 47, MEMBER 1; SLC47A1 MULTIDRUG AND TOXIN EXTRUSION PROTEIN 1; MATE1
Asterisk 609833 SOLUTE CARRIER FAMILY 47, MEMBER 2; SLC47A2 MULTIDRUG AND TOXIN EXTRUSION PROTEIN 2; MATE2;; MATE2K
Asterisk 609834 SET AND MARINER TRANSPOSASE DOMAINS-CONTAINING PROTEIN; SETMAR METNASE
Asterisk 609835 MYCBP-ASSOCIATED PROTEIN; MYCBPAP AMY1-ASSOCIATING PROTEIN 1; AMAP1
Asterisk 609836 PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE 2; PCBD2 DIMERIZATION COFACTOR OF HEPATOCYTE NUCLEAR FACTOR 1-ALPHA 2; DCOH2;; DIMERIZATION COFACTOR OF HEPATOCYTE NUCLEAR FACTOR 1 FROM MUSCLE; DCOHM
Asterisk 609837 SMALL NUCLEOLAR RNA, C/D BOX, 115-1; SNORD115-1 RNA, HBII-52 SMALL NUCLEOLAR;; snoRNA, HBII-52;; MBII-52, MOUSE, HOMOLOG OF
Asterisk 609838 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 2; SLC24A2 SODIUM/POTASSIUM/CALCIUM EXCHANGER 2; NCKX2;; RETINAL CONE SODIUM/POTASSIUM/CALCIUM EXCHANGER
Asterisk 609839 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 3; SLC24A3 SODIUM/POTASSIUM/CALCIUM EXCHANGER 3; NCKX3
Asterisk 609840 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 4; SLC24A4 SODIUM/POTASSIUM/CALCIUM EXCHANGER 4; NCKX4
Asterisk 609841 SOLUTE CARRIER FAMILY 8 (SODIUM/LITHIUM/CALCIUM EXCHANGER), MEMBER B1; SLC8B1 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 6; SLC24A6;; SODIUM/POTASSIUM/CALCIUM EXCHANGER 6; NCKX6;; NCLX
Asterisk 609842 ENHANCER OF mRNA DECAPPING 3, S. CEREVISIAE, HOMOLOG OF; EDC3 YJEF DOMAIN-CONTAINING PROTEIN; YJDC
Asterisk 609843 DECAPPING ENZYME 1, S. CEREVISIAE, HOMOLOG OF, B; DCP1B DCP1, S. CEREVISIAE, HOMOLOG OF, B
Asterisk 609844 DECAPPING ENZYME 2, S. CEREVISIAE, HOMOLOG OF; DCP2 DCP2, S. CEREVISIAE, HOMOLOG OF;; NUDIX HYDROLASE 20; NUDT20
Asterisk 609845 SUCRASE-ISOMALTASE; SI
Asterisk 609846 REGENERATING ISLET-DERIVED FAMILY, MEMBER 4; REG4 REG IV
Asterisk 609847 NOTUM, DROSOPHILA, HOMOLOG OF; NOTUM
Asterisk 609848 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 11; KCTD11 GENE INDUCED BY RETINOIC ACID, EGF, AND NGF; REN
Asterisk 609849 CORONIN 1B; CORO1B CORONIN 2
Asterisk 609850 TBC1 DOMAIN FAMILY, MEMBER 1; TBC1D1 KIAA1108
Asterisk 609851 INOSITOL POLYPHOSPHATE MULTIKINASE; IPMK INOSITOL 1,3,4,5-TETRAKISPHOSPHATE 5-KINASE
Asterisk 609852 MIX1 HOMEOBOX-LIKE PROTEIN 1; MIXL1 MIXL;; MIX
Asterisk 609853 PHOSPHOPANTOTHENOYLCYSTEINE SYNTHETASE; PPCS
Asterisk 609854 PHOSPHOPANTOTHENOYLCYSTEINE DECARBOXYLASE; PPCDC
Asterisk 609855 COENZYME A SYNTHASE; COASY PHOSPHOPANTETHEINE ADENYLYLTRANSFERASE/DEPHOSPHOCOENZYME A KINASE;; PPAT/DPCK
Asterisk 609856 SPERMATOGENESIS-ASSOCIATED PROTEIN 16; SPATA16 NYD-SP12
Asterisk 609857 DYSTROPHIA MYOTONICA WD REPEAT-CONTAINING PROTEIN; DMWD DMRN9, MOUSE, HOMOLOG OF; DMRN9
Asterisk 609858 ETHANOLAMINE KINASE 1; ETNK1 EKI1
Asterisk 609859 ETHANOLAMINE KINASE 2; ETNK2 EKI2
Asterisk 609860 DAD1-RELATED GENE DADR
Asterisk 609861 I-KAPPA-B KINASE-INTERACTING PROTEIN; IKBIP IKIP;; IKK-INTERACTING PROTEIN
Asterisk 609862 TRANSMEMBRANE PROTEASE, SERINE 6; TMPRSS6 MATRIPTASE 2
Asterisk 609863 TECTONIC FAMILY, MEMBER 1; TCTN1 TECTONIC 1; TECT1;; TECTONIC
Asterisk 609864 TRANSMEMBRANE PROTEIN 55A; TMEM55A PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 4-PHOSPHATASE, TYPE II
Asterisk 609865 TRANSMEMBRANE PROTEIN 55B; TMEM55B PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 4-PHOSPHATASE, TYPE I
Asterisk 609866 START DOMAIN-CONTAINING PROTEIN 13; STARD13 DELETED IN LIVER CANCER 2; DLC2
Asterisk 609867 UBIQUITIN-LIKE DOMAIN-CONTAINING CTD PHOSPHATASE 1; UBLCP1
Asterisk 609868 SPERMATOGENESIS-ASSOCIATED PROTEIN 7; SPATA7 HSD3
Asterisk 609869 SPERMATOGENESIS-ASSOCIATED PROTEIN 12; SPATA12 SRG5
Asterisk 609870 RHO GTPase-ACTIVATING PROTEIN 21; ARHGAP21 GTPase-ACTIVATING PROTEIN, RHO, 21;; KIAA1424;; RHO GTPase-ACTIVATING PROTEIN 10, FORMERLY; ARHGAP10, FORMERLY
Asterisk 609871 TBC1 DOMAIN FAMILY, MEMBER 2; TBC1D2 PARIS1
Asterisk 609872 WAP 4-DISULFIDE CORE DOMAIN 12; WFDC12 WHEY ACIDIC PROTEIN 2; WAP2;; SINGLE WAP MOTIF PROTEIN 2; SWAM2
Asterisk 609873 INTELECTIN 1; ITLN1 INTL;; LACTOFERRIN RECEPTOR; LFR;; HL1
Asterisk 609874 INTELECTIN 2; ITLN2 HL2
Asterisk 609875 ATONAL, DROSOPHILA, HOMOLOG OF, 7; ATOH7 REGULATORY ELEMENT, CIS-ACTING, ENHANCER, 21.7 KB UPSTREAM OF ATOH7, INCLUDED; RECE-ATOH7, INCLUDED
Percent 609876 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 6; BMND6
Asterisk 609877 CRYSTALLIN, LAMBDA-1; CRYL1
Asterisk 609878 MEDIATOR COMPLEX SUBUNIT 9; MED9 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 9, S. CEREVISIAE, HOMOLOG OF;; MED25;; FLJ10193
Asterisk 609879 SPERMATOGENESIS-ASSOCIATED PROTEIN 4; SPATA4 TESTIS- AND SPERMATOGENESIS CELL-RELATED PROTEIN 2; TSARG2
Asterisk 609880 LYSINE ACETYLTRANSFERASE 7; KAT7 HISTONE ACETYLTRANSFERASE MYST2; MYST2;; HISTONE ACETYLTRANSFERASE BINDING TO ORC1; HBO1
Asterisk 609881 RNA POLYMERASE II POLYPEPTIDE J-RELATED GENE POLR2J2;; RPB11, S. CEREVISIAE, HOMOLOG OF, B
Asterisk 609882 METAL-REGULATORY TRANSCRIPTION FACTOR 2; MTF2 METAL RESPONSE ELEMENT-BINDING TRANSCRIPTION FACTOR 2;; PCL2;; M96
Asterisk 609883 MKS1 GENE; MKS1 BBS13 GENE; BBS13;; FLJ20345
Asterisk 609884 TRANSMEMBRANE PROTEIN 67; TMEM67 MKS3 GENE;; MECKELIN
Asterisk 609885 ELONGATION FACTOR, RNA POLYMERASE II, 3; ELL3
Number Sign 609886 GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA
Number Sign 609887 GLAUCOMA 1, OPEN ANGLE, G; GLC1G
Percent 609888 LEPROSY, SUSCEPTIBILITY TO, 1; LPRS1 LEPROSY, PAUCIBACILLARY TYPE, SUSCEPTIBILITY TO, 1
Number Sign 609889 ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
Asterisk 609890 UBIQUITIN PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 4; UBR4 RETINOBLASTOMA-ASSOCIATED FACTOR 600; RBAF600;; KIAA1307;; p600
Asterisk 609891 RIPPLY TRANSCRIPTIONAL REPRESSOR 2; RIPPLY2 CHROMOSOME 6 OPEN READING FRAME 59; C6ORF59
Asterisk 609892 DOWN SYNDROME CRITICAL REGION GENE 6; DSCR6 RIPPLY3
Percent 609893 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3; CHNG3 RESISTANCE TO THYROTROPIN; RTSH;; THYROTROPIN RESISTANCE
Asterisk 609894 UNC13, C. ELEGANS, HOMOLOG OF, A; UNC13A MUNC13-1;; KIAA1032
Asterisk 609895 CASTOR ZINC FINGER PROTEIN 1; CASZ1 SURVIVAL-RELATED GENE; SRG
Asterisk 609896 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E FAMILY, MEMBER 3; EIF4E3 EIF4E FAMILY, MEMBER 3
Asterisk 609897 EPIDERMAL GROWTH FACTOR-LIKE 8; EGFL8
Asterisk 609898 KRINGLE DOMAIN-CONTAINING TRANSMEMBRANE PROTEIN 1; KREMEN1 KRM1;; KREMEN
Asterisk 609899 KRINGLE DOMAIN-CONTAINING TRANSMEMBRANE PROTEIN 2; KREMEN2 KRM2
Asterisk 609900 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3D; APOBEC3D
Asterisk 609901 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 4B; ANKS4B HARMONIN-INTERACTING, ANKYRIN REPEAT-CONTAINING PROTEIN; HARP;; FLJ38819
Caret 609902 MOVED TO 603317
Percent 609903 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5; SLEB5
Asterisk 609904 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER A; HIST1H2BA HISTONE GENE CLUSTER 1, H2BA;; HIST1 CLUSTER, H2BA;; H2B HISTONE FAMILY, MEMBER U; H2BFU;; TESTIS-SPECIFIC HISTONE H2B; TSH2B
Asterisk 609905 MYOSIN LIGHT CHAIN 9, REGULATORY; MYL9 MLC2
Asterisk 609906 EMBRYONAL FYN-ASSOCIATED SUBSTRATE; EFS SRC-INTERACTING PROTEIN; SIN
Asterisk 609907 SEMAPHORIN 3D; SEMA3D
Asterisk 609908 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 4; APOBEC4
Number Sign 609909 CARDIOMYOPATHY, DILATED, 1P; CMD1P
Asterisk 609910 MYCBP-ASSOCIATED TESTIS-EXPRESSED PROTEIN 1; MAATS1 AMY1-ASSOCIATED PROTEIN EXPRESSED IN TESTIS 1; AAT1;; CHROMOSOME 3 OPEN READING FRAME 15; C3ORF15
Asterisk 609911 HEPATOCELLULAR CARCINOMA-DOWNREGULATED MITOCHONDRIAL CARRIER PROTEIN HDMCP;; CHROMOSOME 14 OPEN READING FRAME 68; C14ORF68
Asterisk 609912 LYSINE ACETYLTRANSFERASE 8; KAT8 HISTONE ACETYLTRANSFERASE MYST1; MYST1;; MOF, DROSOPHILA, HOMOLOG OF; MOF
Percent 609913 RETINITIS PIGMENTOSA 32; RP32
Asterisk 609914 AQUAPORIN 11; AQP11 AQPX1
Percent 609915 CARDIOMYOPATHY, DILATED, 1Q; CMD1Q
Asterisk 609916 5-AZACYTIDINE-INDUCED GENE 2, MOUSE, HOMOLOG OF; AZI2 AZI2, MOUSE, HOMOLOG OF; AZ2;; NAK-ASSOCIATED PROTEIN 1; NAP1;; TILP
Asterisk 609917 PRION PROTEIN-INTERACTING PROTEIN; PRNPIP PRION INTERACTOR 1; PINT1
Percent 609918 GALLBLADDER DISEASE 2; GBD2
Percent 609919 GALLBLADDER DISEASE 3; GBD3
Asterisk 609920 CADHERIN 22; CDH22 CADHERIN, PITUITARY AND BRAIN;; PB-CADHERIN
Asterisk 609921 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 10; LRP10 LRP9
Asterisk 609922 EH DOMAIN-BINDING PROTEIN 1; EHBP1 KIAA0903
Number Sign 609923 RETINITIS PIGMENTOSA 31; RP31
Number Sign 609924 AMINOACYLASE 1 DEFICIENCY; ACY1D
Asterisk 609925 DIPEPTIDASE 2; DPEP2 MEMBRANE-BOUND DIPEPTIDASE 2; MBD2
Asterisk 609926 DIPEPTIDASE 3; DPEP3 MEMBRANE-BOUND DIPEPTIDASE 3; MBD3
Asterisk 609927 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, A; VPS37A HEPATOCELLULAR CARCINOMA-RELATED PROTEIN 1; HCRP1
Asterisk 609928 MYOSIN, HEAVY CHAIN 7B, CARDIAC MUSCLE, BETA; MYH7B MYOSIN HEAVY CHAIN 14; MYH14;; KIAA1512
Asterisk 609929 MYOSIN, HEAVY CHAIN 15; MYH15
Asterisk 609930 MYOSIN, LIGHT CHAIN 6B, ALKALI, SMOOTH MUSCLE AND NONMUSCLE, SLOW; MYL6B MYOSIN, LIGHT CHAIN 1, SLOW, A; MLC1SA
Asterisk 609931 MYOSIN LIGHT CHAIN 6, ALKALI, SMOOTH MUSCLE AND NONMUSCLE; MYL6
Asterisk 609932 SPERM ACROSOME-ASSOCIATED PROTEIN 4; SPACA4 SPERM ACROSOMAL MEMBRANE PROTEIN 14; SAMP14
Asterisk 609933 REGENERATING ISLET-DERIVED 3-GAMMA; REG3G REG III;; PAP IB
Asterisk 609934 EARLY B-CELL FACTOR 2; EBF2
Asterisk 609935 EARLY B-CELL FACTOR 4; EBF4 KIAA1442
Asterisk 609936 SPINDLIN 1; SPIN1 SPINDLIN; SPIN
Asterisk 609937 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 7; CDCA7 JPO1
Asterisk 609938 CELL ADHESION MOLECULE 2; CADM2 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4D; IGSF4D;; SYNAPTIC CELL ADHESION MOLECULE 2; SYNCAM2;; NECTIN-LIKE PROTEIN 3; NECL3
Percent 609939 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6
Caret 609940 MOVED TO 112250
Percent 609941 DEAFNESS, AUTOSOMAL RECESSIVE 51; DFNB51
Number Sign 609942 NOONAN SYNDROME 3; NS3
NULL 609943 HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
NULL 609944 ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES
NULL 609945 BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
Percent 609946 DEAFNESS, AUTOSOMAL RECESSIVE 47; DFNB47
Asterisk 609947 KIAA0391 GENE; KIAA0391 MITOCHONDRIAL RIBONUCLEASE P PROTEIN 3; MRPP3
Asterisk 609948 RING FINGER PROTEIN 216; RNF216 TRIAD DOMAIN-CONTAINING PROTEIN 3; TRIAD3;; ZINC FINGER PROTEIN INHIBITING NFKB; ZIN
Asterisk 609949 COMPLEMENT COMPONENT 5a RECEPTOR 2; C5AR2 G PROTEIN-COUPLED RECEPTOR 77; GPR77;; C5L2
Asterisk 609950 RAVER1, MOUSE, HOMOLOG OF RAVER1;; KIAA1978
Asterisk 609951 ZINC FINGER PROTEIN 384; ZNF384 CAS-INTERACTING ZINC FINGER PROTEIN; CIZ;; CAGH1;; NUCLEAR MATRIX PROTEIN 4; NMP4
Percent 609952 DEAFNESS, AUTOSOMAL RECESSIVE 55; DFNB55
Asterisk 609953 RAVER2, MOUSE, HOMOLOG OF RAVER2;; KIAA1579
Percent 609954 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 4; ASPG4
Percent 609955 FIBROMATOSIS, GINGIVAL, 3; GINGF3 GGF3;; FIBROMATOSIS, GINGIVAL, HEREDITARY, 3; HGF3
Asterisk 609956 RAS-ASSOCIATED PROTEIN RAB37; RAB37
Asterisk 609957 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1J; PPM1J PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1J;; PROTEIN PHOSPHATASE 2C, ZETA ISOFORM; PP2CZ;; PPP2CZ
Percent 609958 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3 ASRT3
Asterisk 609959 MYELOID-ASSOCIATED DIFFERENTIATION MARKER; MYADM
Asterisk 609960 KIAA0020 GENE; KIAA0020 MINOR HISTOCOMPATIBILITY ANTIGEN HA-8;; HLA-HA8
Asterisk 609961 MINOR HISTOCOMPATIBILITY ANTIGEN HB-1 HLA-HB1
Asterisk 609962 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER E; CLEC4E MACROPHAGE-INDUCIBLE C-TYPE LECTIN; MINCLE
Asterisk 609963 CHONDROITIN SULFATE SYNTHASE 3; CHSY3 CSS3;; CARBOHYDRATE SYNTHASE 2
Asterisk 609964 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER D; CLEC4D LECTIN, C-TYPE, SUPERFAMILY MEMBER 8; CLECSF8;; CLEC6;; MACROPHAGE C-TYPE LECTIN; MCL;; DECTIN 3
Percent 609965 DEAFNESS, AUTOSOMAL DOMINANT 53; DFNA53
Asterisk 609966 GAMETOGENETIN, MOUSE, HOMOLOG OF; GGN
Asterisk 609967 B-CELL NOVEL PROTEIN 1 BCNP1
Number Sign 609968 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5
Asterisk 609969 SUPRABASIN SBSN
Asterisk 609970 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 2; HES2
Asterisk 609971 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 3; HES3
Asterisk 609972 ACYL-CoA THIOESTERASE 2; ACOT2 PEROXISOMAL LONG-CHAIN ACYL-CoA THIOESTERASE; PTE2;; MTE1;; PTE1A, MOUSE, HOMOLOG OF
Asterisk 609973 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 3; HCN3 KIAA1535
Asterisk 609974 CADHERIN 9; CDH9 T1-CADHERIN
Number Sign 609975 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4
Asterisk 609976 HYPOXIA-INDUCIBLE FACTOR 3, ALPHA SUBUNIT; HIF3A HIF3-ALPHA;; INHIBITORY PAS DOMAIN PROTEIN; IPAS
Asterisk 609977 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 8; CDCA8 DASRA B;; BOREALIN
Asterisk 609978 CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION 2; CADPS2 KIAA1591
Asterisk 609979 VESTIGIAL-LIKE 2; VGLL2 VGL2;; VESTIGIAL- AND TONDU-RELATED PROTEIN 1; VITO1
Asterisk 609980 VESTIGIAL-LIKE 3; VGLL3 VGL3
Number Sign 609981 IMMUNODEFICIENCY 54; IMD54 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT; NKGCD;; NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD
Asterisk 609982 VACUOLAR PROTEIN SORTING 4, YEAST, HOMOLOG OF, A; VPS4A VPS4
Asterisk 609983 VACUOLAR PROTEIN SORTING 4, S. CEREVISIAE, HOMOLOG OF, B; VPS4B SKD1, MOUSE, HOMOLOG OF; SKD1
Asterisk 609984 ZWILCH, DROSOPHILA, HOMOLOG OF; ZWILCH
Percent 609985 PANIC DISORDER 3 PAND3;; PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 4q-RELATED
Asterisk 609986 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 6; CARD6 CARD-CONTAINING INHIBITOR OF NOD1- AND CARDIAK-INDUCED NFKB ACTIVATION 1, INCLUDED; CINCIN1, INCLUDED
Asterisk 609987 STIMULATED BY RETINOIC ACID 8; STRA8
Asterisk 609988 PYROPHOSPHATASE, INORGANIC, 2; PPA2
Percent 609989 METAPHYSEAL CHONDRODYSPLASIA WITH CONE-SHAPED EPIPHYSES, NORMAL HAIR, AND NORMAL HANDS CUPPED METAPHYSES AND CONE-SHAPED EPIPHYSES WITHOUT ALOPECIA OR BRACHYDACTYLY
Percent 609990 TRICHOSCYPHODYSPLASIA METAPHYSEAL CHONDRODYSPLASIA WITH CONE-SHAPED EPIPHYSES AND ALOPECIA;; METAPHYSEAL CHONDRODYSPLASIA WITH ECTODERMAL DYSPLASIA;; CUPPED METAPHYSES AND CONE-SHAPED EPIPHYSES WITH ALOPECIA
Asterisk 609991 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 1; FNDC1 ACTIVATOR OF G PROTEIN SIGNALING 8; AGS8;; KIAA1866
Asterisk 609992 PROCESSING OF PRECURSOR 5, S. CEREVISIAE, HOMOLOG OF; POP5 HSPC004
Percent 609993 OSTEOSCLEROSIS WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE SCLEROSING DYSPLASIA OF BONE WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE
Percent 609994 MYOPIA 11, AUTOSOMAL DOMINANT; MYP11
Percent 609995 MYOPIA 12, AUTOSOMAL DOMINANT; MYP12
Asterisk 609996 COLLAGEN, TYPE XXVIII, ALPHA-1; COL28A1
Asterisk 609997 HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 2; HINT2
Asterisk 609998 HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 3; HINT3
Asterisk 609999 SYNAPSE DIFFERENTIATION-INDUCED GENE 1-LIKE; SYNDIG1L TRANSMEMBRANE PROTEIN 90A; TMEM90A;; CAUDATE- AND PUTAMEN-ENRICHED GENE; CAPUCIN
Asterisk 610000 CENTROSOMAL PROTEIN, 55-KD; CEP55
NULL 610001 ARTHROGRYPOSIS MULTIPLEX WITH DEAFNESS, INGUINAL HERNIAS, AND EARLY DEATH
Asterisk 610002 COLLAGEN, TYPE XXI, ALPHA-1; COL21A1
Number Sign 610003 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT NORTHERN EPILEPSY;; EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION; EPMR
Asterisk 610004 COLLAGEN, TYPE XXV, ALPHA-1; COL25A1 COLLAGEN-LIKE ALZHEIMER AMYLOID PLAQUE COMPONENT PRECURSOR;; CLAC PRECURSOR; CLACP COLLAGEN-LIKE ALZHEIMER AMYLOID PLAQUE COMPONENT, INCLUDED; CLAC, INCLUDED
Asterisk 610005 TRAF2- AND NCK-INTERACTING KINASE; TNIK KIAA0551
Number Sign 610006 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY 2-METHYLBUTYRYL GLYCINURIA;; SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; SBCADD
Asterisk 610007 LIMB REGION 1 HOMOLOG-LIKE; LMBR1L LIPOCALIN-INTERACTING MEMBRANE RECEPTOR; LIMR;; KIAA1174
Asterisk 610008 ARYLSULFATASE G; ARSG KIAA1001
Asterisk 610009 ARYLSULFATASE I; ARSI
Asterisk 610010 ARYLSULFATASE J; ARSJ
Asterisk 610011 ARYLSULFATASE K; ARSK
Asterisk 610012 SULFATASE 1; SULF1 KIAA1077
Asterisk 610013 SULFATASE 2; SULF2 KIAA1247
Asterisk 610014 TM2 DOMAIN-CONTAINING PROTEIN 3; TM2D3 BBP-LIKE PROTEIN 2; BLP2
Number Sign 610015 GLUTAMINE DEFICIENCY, CONGENITAL GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC
Asterisk 610016 MICRO RNA 132; MIR132 miRNA132;; MIRN132;; MIR132-3p MICRO RNA 132*, INCLUDED; MIR132*, INCLUDED;; MICRO RNA 132-5p, INCLUDED; MIR132-5p, INCLUDED
Number Sign 610017 MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2
Asterisk 610018 SOLO GENE SOLO;; FLJ10357
Number Sign 610019 CATARACT 18; CTRCT18 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2; CATC2
Asterisk 610020 TBC1 DOMAIN FAMILY, MEMBER 10A; TBC1D10A EPI64
Number Sign 610021 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 HYPERINSULINEMIC HYPOGLYCEMIA, EXERCISE-INDUCED
Asterisk 610022 MYOSIN VC; MYO5C
NULL 610023 BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS
Number Sign 610024 RETINAL CONE DYSTROPHY 3A; RCD3A CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, PDE6H-RELATED ACHROMATOPSIA 6, INCLUDED; ACHM6, INCLUDED
Asterisk 610025 COLLAGEN, TYPE XXIV, ALPHA-1; COL24A1
Asterisk 610026 COLLAGEN, TYPE XXII, ALPHA-1; COL22A1
Asterisk 610027 VACUOLAR PROTEIN SORTING 26, YEAST, HOMOLOG OF, B; VPS26B
Asterisk 610028 POLY(ADP-RIBOSE) POLYMERASE 14; PARP14 KIAA1268;; B-AGGRESSIVE LYMPHOMA 2; BAL2
Asterisk 610029 VOLTAGE-DEPENDENT ANION CHANNEL 3; VDAC3
Asterisk 610030 VOLTAGE-DEPENDENT ANION CHANNEL 4; VDAC4
Number Sign 610031 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7 POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC; PMGYSA
Asterisk 610032 TRANSPORTIN 3; TNPO3 TRANSPORTIN-SR; TRNSR
Asterisk 610033 PENTA-EF-HAND DOMAIN-CONTAINING PROTEIN 1; PEF1 PEFLIN
Asterisk 610034 VACUOLAR PROTEIN SORTING 33, YEAST, HOMOLOG OF, A; VPS33A
Asterisk 610035 VACUOLAR PROTEIN SORTING 45, YEAST, HOMOLOG OF; VPS45 VACUOLAR PROTEIN SORTING 45, YEAST, HOMOLOG OF, A; VPS45A
Asterisk 610036 CLAUDIN 19; CLDN19
Asterisk 610037 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, B; VPS37B
Asterisk 610038 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, C; VPS37C
Asterisk 610039 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, D; VPS37D WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 24; WBSCR24
Asterisk 610040 MYOSIN IIIB; MYO3B
Asterisk 610041 NEDD4 FAMILY-INTERACTING PROTEIN 2; NDFIP2 NEDD4 WW DOMAIN-BINDING PROTEIN 5A; N4WBP5A;; KIAA1165
Number Sign 610042 PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1 CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME; CDFES
Asterisk 610043 COLLAGEN, TYPE XXIII, ALPHA-1; COL23A1
Asterisk 610044 POTASSIUM CHANNEL, SUBFAMILY T, MEMBER 2; KCNT2 SLICK
Asterisk 610045 ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1 SUCCINIC SEMIALDEHYDE DEHYDROGENASE, NAD(+)-DEPENDENT; SSADH
Asterisk 610046 LAEVERIN LVRN;; FLJ90650;; CHL2 ANTIGEN;; AMINOPEPTIDASE Q; APQ;; TRANSMEMBRANE AMINOPEPTIDASE Q; TAQPEP
Asterisk 610047 CANOPY FGF SIGNALING REGULATOR 4; CNPY4 CANOPY 4, ZEBRAFISH, HOMOLOG OF;; PROTEIN ASSOCIATED WITH TLR4; PRAT4B;; MGC40499
Number Sign 610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD CONGENITAL STROMAL CORNEAL DYSTROPHY
Asterisk 610049 SAP DOMAIN-CONTAINING RIBONUCLEOPROTEIN; SARNP CYTOKINE-INDUCED PROTEIN, 29-KD; CIP29;; HEPATOCELLULAR CARCINOMA 1; HCC1;; HSPC316 CIP29/MLL FUSION GENE, INCLUDED
Asterisk 610050 TRANSMEMBRANE PROTEIN, SERINE 13; TMPRSS13 MOSAIC SERINE PROTEASE LONG; MSPL MOSAIC SERINE PROTEASE SHORT, INCLUDED; MSPS, INCLUDED
Asterisk 610051 CHMP FAMILY, MEMBER 4A; CHMP4A CHROMATIN-MODIFYING PROTEIN 4A;; CHARGED MULTIVESICULAR BODY PROTEIN 4A;; CHMP4;; SNF7, YEAST, HOMOLOG OF, 1;; SNF7-1;; HSPC134
Asterisk 610052 VACUOLAR PROTEIN SORTING 24, YEAST, HOMOLOG OF; VPS24 CHMP FAMILY, MEMBER 3; CHMP3;; CHARGED MULTIVESICULAR BODY PROTEIN 3;; CHROMATIN-MODIFYING PROTEIN 3;; NEUROENDOCRINE DIFFERENTIATION FACTOR; NEDF
Asterisk 610053 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 6; TUBGCP6 GCP6;; KIAA1669
Asterisk 610054 H2A HISTONE FAMILY, MEMBER Y; H2AFY MACRO H2A;; MACRO H2A1;; MH2A1
Asterisk 610055 COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 1A; CC2D1A
Asterisk 610056 SPERM-ASSOCIATED ANTIGEN 7; SPAG7
Asterisk 610057 TRANS-2,3-ENOYL-CoA REDUCTASE; TECR GLYCOPROTEIN, SYNAPTIC, 2; GPSN2;; TER;; SC2
Asterisk 610058 TUBULIN-SPECIFIC CHAPERONE A; TBCA CHAPERONIN COFACTOR A
Asterisk 610059 MITOCHONDRIAL RIBOSOMAL PROTEIN L33; MRPL33
Asterisk 610060 POLYMERASE I, RNA, SUBUNIT C; POLR1C RPA39;; RPA40;; RPAC1;; RPA5
Asterisk 610061 DYNEIN, AXONEMAL, HEAVY CHAIN 7; DNAH7 KIAA0944
Asterisk 610062 DYNEIN, AXONEMAL, LIGHT CHAIN 1; DNAL1 CHROMOSOME 14 OPEN READING FRAME 168; C14ORF168
Asterisk 610063 DYNEIN, AXONEMAL, HEAVY CHAIN 17; DNAH17 DNEL2
Percent 610064 OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1 ODS1
Percent 610065 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 7; SLEB7
Percent 610066 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 8; SLEB8
Asterisk 610067 MYOSIN XVIIIA; MYO18A SURFACTANT PROTEIN A RECEPTOR, 210-KD; SPR210 MYO18A/PDGFRB FUSION GENE, INCLUDED
Asterisk 610068 SOLUTE CARRIER FAMILY 26 (ANION TRANSPORTER), MEMBER 6: SLC26A6
Number Sign 610069 POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2
Asterisk 610070 ASTER-ASSOCIATED PROTEIN ASAP
Percent 610071 HYPERPARATHYROIDISM 3; HRPT3 HYPERPARATHYROIDISM, FAMILIAL ISOLATED
Asterisk 610072 ERMIN; ERMN JUXTANODIN; JN;; KIAA1189
Asterisk 610073 ORM1-LIKE PROTEIN 1; ORMDL1
Asterisk 610074 ORM1-LIKE PROTEIN 2; ORMDL2
Asterisk 610075 ORM1-LIKE PROTEIN 3; ORMDL3
Asterisk 610076 CYCLIN-DEPENDENT KINASE 20; CDK20 CELL CYCLE-RELATED KINASE; CCRK;; CYCLIN-DEPENDENT PROTEIN KINASE H; CDCH;; p42
Asterisk 610077 RESPONSE GENE TO COMPLEMENT 32 RGC32;; CHROMOSOME 13 OPEN READING FRAME 15; C13ORF15
Asterisk 610078 MORC FAMILY CW-TYPE ZINC FINGER PROTEIN 3; MORC3 NUCLEAR MATRIX PROTEIN 2; NXP2
Asterisk 610079 SIALIC ACID ACETYLESTERASE; SIAE SIALIC ACID ACETYLESTERASE, LYSOSOMAL, INCLUDED; LSE, INCLUDED;; SIALIC ACID ACETYLESTERASE, CYTOSOLIC, INCLUDED; CSE, INCLUDED
Asterisk 610080 TM2 DOMAIN-CONTAINING PROTEIN 1; TM2D1 BETA-AMYLOID PEPTIDE-BINDING PROTEIN; BBP
Asterisk 610081 TM2 DOMAIN-CONTAINING PROTEIN 2; TM2D2 BBP-LIKE PROTEIN 1; BLP1
Asterisk 610082 MYOSIN REGULATORY LIGHT CHAIN-INTERACTING PROTEIN; MYLIP MIR;; INDUCIBLE DEGRADER OF THE LOW DENSITY LIPOPROTEIN RECEPTOR; IDOL
Asterisk 610083 TENEURIN TRANSMEMBRANE PROTEIN 3; TENM3 ODZ, DROSOPHILA, HOMOLOG OF, 3; ODZ3;; TENASCIN M3; TNM3;; KIAA1455
Asterisk 610084 TENEURIN TRANSMEMBRANE PROTEIN 4; TENM4 ODZ, DROSOPHILA, HOMOLOG OF, 4; ODZ4;; TENASCIN M4; TNM4;; DOC4;; KIAA1302
Asterisk 610085 FAMILY WITH SEQUENCE SIMILARITY 167, MEMBER A; FAM167A CHROMOSOME 8 OPEN READING FRAME 13; C8ORF13
Asterisk 610086 PROTEIN ARGININE METHYLTRANSFERASE 8; PRMT8 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 3; HRMT1L3;; HRMT1L4
Asterisk 610087 PROTEIN ARGININE N-METHYLTRANSFERASE 7; PRMT7 KIAA1933
Asterisk 610088 OLFACTOMEDIN-LIKE 3; OLFML3 OLFACTOMEDIN, 44-KD; OLF44
Asterisk 610089 RAD50-INTERACTING PROTEIN 1; RINT1
Number Sign 610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD PNPO DEFICIENCY;; SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE;; EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED
Asterisk 610091 WD REPEAT- AND SOCS BOX-CONTAINING PROTEIN 1; WSB1 SOCS BOX AND WB REPEATS IN PROTEIN 1; SWIP1
Number Sign 610092 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 3 MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES, INCLUDED
Number Sign 610093 MICROPHTHALMIA, ISOLATED 2; MCOP2 ANOPHTHALMIA, CLINICAL, ISOLATED
Asterisk 610094 DEF6, MOUSE, HOMOLOG OF; DEF6 IRF4-BINDING PROTEIN; IBP;; SWAP70-LIKE ADAPTOR OF T CELLS; SLAT
Asterisk 610095 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC TAIL, 3; KIR3DL3 KIRC1;; KIR3DL7;; KIR44;; CD158Z
Asterisk 610096 T-CELL IMMUNOGLOBULIN AND MUCIN DOMAINS-CONTAINING PROTEIN 4; TIMD4 TIM4;; SMUCKLER
Asterisk 610097 OUTER DENSE FIBER OF SPERM TAILS 4; ODF4 OPPO1
Asterisk 610098 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 9; MCM9 MINICHROMOSOME MAINTENANCE DEFICIENT DOMAIN CONTAINING 1; MCMDC1
Percent 610099 MYOPATHY, DISTAL, 3; MPD3
Number Sign 610100 GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT; GAN2
Asterisk 610101 CUTC COPPER TRANSPORTER, E. COLI, HOMOLOG OF; CUTC COPPER TRANSPORTER PROTEIN CUTC
Number Sign 610102 COMPLEMENT COMPONENT 7 DEFICIENCY; C7D C7 DEFICIENCY
Asterisk 610103 S100 CALCIUM-BINDING PROTEIN, ZETA; S100Z
Asterisk 610104 MICRO RNA 125B1; MIR125B1 miRNA125B1;; MIRN125B1
Asterisk 610105 MICRO RNA 125B2; MIR125B2 MIRN125B2;; miRNA125B2
Asterisk 610106 DREBRIN-LIKE; DBNL HPK1-INTERACTING PROTEIN, 55-KD; HIP55
Asterisk 610107 O-SIALOGLYCOPROTEIN ENDOPEPTIDASE; OSGEP KAE1;; TSC3;; FLJ20411
Asterisk 610108 ANOCTAMIN 1, CALCIUM-ACTIVATED CHLORIDE CHANNEL; ANO1 TRANSMEMBRANE PROTEIN 16A; TMEM16A
Asterisk 610109 ANOCTAMIN 2; ANO2 TRANSMEMBRANE PROTEIN 16B; TMEM16B;; C12ORF3
Asterisk 610110 ANOCTAMIN 3; ANO3 TRANSMEMBRANE PROTEIN 16C; TMEM16C;; CHROMOSOME 11 OPEN READING FRAME 25; C11ORF25
Asterisk 610111 ANOCTAMIN 4; ANO4 TRANSMEMBRANE PROTEIN 16D; TMEM16D;; FLJ34272
Asterisk 610112 C-MAF-INDUCING PROTEIN CMIP;; KIAA1694 C-MAF-INDUCING PROTEIN, TRUNCATED, INCLUDED; TCMIP, INCLUDED
Asterisk 610113 ADAMTS-LIKE 4; ADAMTSL4 THROMBOSPONDIN REPEAT-CONTAINING 1; TSRC1
Percent 610114 STATURE QUANTITATIVE TRAIT LOCUS 8; STQTL8
Asterisk 610115 TRANSMEMBRANE PROTEIN 48; TMEM48 NDC1, S. CEREVISIAE, HOMOLOG OF; NDC1
Asterisk 610116 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 14; P2RY14 G PROTEIN-COUPLED RECEPTOR 105; GPR105;; KIAA0001
Asterisk 610117 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 11; SLC26A11
Asterisk 610118 G PROTEIN-COUPLED RECEPTOR 33; GPR33
Asterisk 610119 TENEURIN TRANSMEMBRANE PROTEIN 2; TENM2 ODZ, DROSOPHILA, HOMOLOG OF, 2; ODZ2;; TENASCIN M2; TNM2;; KIAA1127
Asterisk 610120 TETRASPANIN 33; TSPAN33 PENUMBRA; PEN
Asterisk 610121 5-HYDROXYTRYPTAMINE RECEPTOR 3C; HTR3C SEROTONIN 5-HT-3C RECEPTOR
Asterisk 610122 5-HYDROXYTRYPTAMINE RECEPTOR 3D; HTR3D SEROTONIN 5-HT-3D RECEPTOR
Asterisk 610123 5-HYDROXYTRYPTAMINE RECEPTOR 3E; HTR3E SEROTONIN 5-HT-3E RECEPTOR
Asterisk 610124 CARBOHYDRATE SULFOTRANSFERASE 13; CHST13 CHONDROITIN 4-SULFOTRANSFERASE 3; C4ST3
Number Sign 610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5 RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, INCLUDED
Caret 610126 MOVED TO 607932
Number Sign 610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 CEROID LIPOFUSCINOSIS, NEURONAL, CATHEPSIN D-DEFICIENT;; NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL, INCLUDED
Asterisk 610128 CARBOHYDRATE SULFOTRANSFERASE 11; CHST11 CHONDROITIN 4-SULFOTRANSFERASE 1; C4ST1;; C4ST
Asterisk 610129 CARBOHYDRATE SULFOTRANSFERASE 12; CHST12 CHONDROITIN 4-SULFOTRANSFERASE 2; C4ST2
Asterisk 610130 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 1; SLC26A1 SULFATE ANION TRANSPORTER 1; SAT1
Number Sign 610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 4
Asterisk 610132 VANG-LIKE 1; VANGL1 VAN GOGH, DROSOPHILA, HOMOLOG OF, 1;; STRABISMUS, DROSOPHILA, HOMOLOG OF, 2; STB2; STBM2
Asterisk 610133 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 3; ST6GALNAC3 ST6GALNAC III;; SIALYLTRANSFERASE 7C; SIAT7C
Asterisk 610134 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 5; ST6GALNAC5 ST6GalNAc V;; SIALYLTRANSFERASE 7E; SIAT7E
Asterisk 610135 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 6; ST6GALNAC6 ST6GalNAc VI;; SIALYLTRANSFERASE 7F; SIAT7F
NULL 610136 DEVRIENDT SYNDROME
Asterisk 610137 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 2; ST6GALNAC2 ST6GalNAc II;; SIALYLTRANSFERASE 7B; SIAT7B;; SIALYLTRANSFERASE-LIKE 1; SAITL1
Asterisk 610138 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 1; ST6GALNAC1 ST6GalNAc I;; STYI;; SIALYLTRANSFERASE 7A; SIAT7A
Asterisk 610139 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 6; ST8SIA6 ALPHA-2,8-SIALYLTRANSFERASE VI;; ST8SIA VI;; SIALYLTRANSFERASE 8F; SIAT8F
Number Sign 610140 HEART-HAND SYNDROME, SLOVENIAN TYPE
Percent 610141 QT INTERVAL, VARIATION IN
Asterisk 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290 ANTIGEN IDENTIFIED BY MONOCLONAL ANTIBODY 3H11; 3H11AG;; KIAA0373;; NEPHROCYSTIN 6; NPHP6;; BBS14 GENE; BBS14
Percent 610143 DEAFNESS, AUTOSOMAL RECESSIVE 62; DFNB62
Asterisk 610144 TBC1 DOMAIN FAMILY, MEMBER 3B; TBC1D3B PROSTATE CANCER GENE 17; PRC17
Asterisk 610145 ENDOTHELIN-CONVERTING ENZYME 2; ECE2 KIAA0604
Asterisk 610146 INSULIN-LIKE GROWTH FACTOR II, ANTISENSE; IGF2AS IGF2, ANTISENSE;; PEG8
Asterisk 610147 G PROTEIN-COUPLED BILE ACID RECEPTOR 1; GPBAR1 BG37;; TGR5
Asterisk 610148 BBS10 GENE; BBS10 CHROMOSOME 12 OPEN READING FRAME 58; C12ORF58;; FLJ23560
Number Sign 610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7 MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO, INCLUDED;; MACULAR DEGENERATION, AGE-RELATED, WET TYPE, SUSCEPTIBILITY TO, INCLUDED
Asterisk 610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5; CCT5 CHAPERONIN CONTAINING TCP1, SUBUNIT 5;; CCT-EPSILON; CCTE;; KIAA0098
Asterisk 610151 METHIONYL AMINOPEPTIDASE 1; METAP1 KIAA0094
Asterisk 610152 CENTROMERIC PROTEIN M; CENPM PROLIFERATION-ASSOCIATED NUCLEAR ELEMENT 1; PANE1
Number Sign 610153 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
Number Sign 610154 DEAFNESS, AUTOSOMAL RECESSIVE 44; DFNB44
Percent 610155 DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19
Number Sign 610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS MORM SYNDROME
NULL 610157 HEAT-SHOCK RNA 1 HSR1
Percent 610158 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2; FECD2 FCD1 LOCUS;; CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET
Asterisk 610159 ZINC FINGER PROTEIN 366; ZNF366 DENDRITIC CELL-SPECIFIC TRANSCRIPT; DCSCRIPT
Asterisk 610160 ZINC FINGER PROTEIN 367; ZNF367 ZINC FINGER PROTEIN OF FETAL LIVER ERYTHROID CELLS 29; ZFF29
Asterisk 610161 TRANSCRIPTION FACTOR AP2-DELTA; TFAP2D TFAP2BL1
Asterisk 610162 COILED-COIL DOMAIN-CONTAINING PROTEIN 28B; CCDC28B MGC1203
Number Sign 610163 IMMUNODEFICIENCY 25; IMD25 IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA
Asterisk 610164 MICRO RNA 134; MIRN134
Asterisk 610165 GLYCOSYLTRANSFERASE-LIKE DOMAIN-CONTAINING PROTEIN 1; GTDC1
Asterisk 610166 IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 1; IQSEC1 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE PROTEIN, 100-KD; ARFGEP100;; LONER, DROSOPHILA, HOMOLOG OF;; KIAA0763
Asterisk 610167 PHOSPHOHISTIDINE PHOSPHATASE 1; PHPT1 SEX-REGULATED PROTEIN JANUS-A
Number Sign 610168 LOEYS-DIETZ SYNDROME 2; LDS2 AORTIC ANEURYSM, FAMILIAL THORACIC 3; AAT3;; MARFAN SYNDROME, TYPE II, FORMERLY
Asterisk 610169 INO80 COMPLEX SUBUNIT; INO80 INO80 COMPLEX, CATALYTIC SUBUNIT;; INO80 COMPLEX, SUBUNIT A; INO80A;; INO80 COMPLEX HOMOLOG 1; INOC1;; INO80, S. CEREVISIAE, HOMOLOG OF
Percent 610170 KYPHOSCOLIOSIS 1; KYPSC1
Asterisk 610171 CALMODULIN-LIKE 6; CALML6 CALGLANDULIN-LIKE PROTEIN; CAGLP
Asterisk 610172 KPL2 GENE KPL2;; KIAA1770;; FLJ23577
Asterisk 610173 MICRO RNA 10A; MIR10A miRNA10A;; MIRN10A
Asterisk 610174 UBIQUITIN DOMAIN-CONTAINING PROTEIN 2; UBTD2 DENDRITIC CELL UBIQUITIN-LIKE PROTEIN; DCUBP;; MGC30022
Asterisk 610175 MICRO RNA 130A; MIR130A miRNA130A;; MIRN130A
Asterisk 610176 SECRETOGLOBIN, FAMILY 1C, MEMBER 1; SCGB1C1 RYD5, RAT, HOMOLOG OF; RYD5
Asterisk 610177 APOPTOSIS-ENHANCING NUCLEASE; AEN INTERFERON-STIMULATED EXONUCLEASE GENE 20-KD-LIKE 1; ISG20L1
Asterisk 610178 KIAA0586 GENE; KIAA0586 TALPID 3, CHICKEN, HOMOLOG OF; TALPID3
Asterisk 610179 PHOSPHOLIPASE B1; PLB1 PLB;; FLJ30866
Asterisk 610180 OSTEOCLAST-STIMULATING FACTOR 1; OSTF1 OSF;; SH3P2
Number Sign 610181 AICARDI-GOUTIERES SYNDROME 2; AGS2
Asterisk 610182 PALMDELPHIN; PALMD PARALEMMIN-LIKE; PALML
Asterisk 610183 ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 6; ZFAND6 AN1-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 6;; PROTEIN ASSOCIATED WITH PRK1; AWP1;; ZINC FINGER A20 DOMAIN-CONTAINING PROTEIN 3; ZA20D3;; A20-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 3
Asterisk 610184 MONOACYLGLYCEROL O-ACYLTRANSFERASE 3; MOGAT3 ACYL-CoA:MONOACYLGLYCEROL ACYLTRANSFERASE 3;; MGAT3
Number Sign 610185 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2
Asterisk 610186 UBIQUITIN-SPECIFIC PEPTIDASE 17-LIKE FAMILY MEMBER 2; USP17L2 DEUBIQUITINATING ENZYME 3; DUB3
Number Sign 610187 DIAPHRAGMATIC HERNIA 3; DIH3
Number Sign 610188 JOUBERT SYNDROME 5; JBTS5
Number Sign 610189 SENIOR-LOKEN SYNDROME 6; SLSN6
Asterisk 610190 CARBOHYDRATE SULFOTRANSFERASE 8; CHST8 N-ACETYLGALACTOSAMINE-4-O-SULFOTRANSFERASE 1;; GalNAc4 SULFOTRANSFERASE 1; GalNAc4ST1;; GalNAc4ST
Asterisk 610191 CARBOHYDRATE SULFOTRANSFERASE 9; CHST9 N-ACETYLGALACTOSAMINE-4-O-SULFOTRANSFERASE 2;; GalNAc4 SULFOTRANSFERASE 2; GalNAc4ST2
Asterisk 610192 GLIS FAMILY ZINC FINGER PROTEIN 3; GLIS3 GLI-SIMILAR PROTEIN 3;; ZINC FINGER PROTEIN 515; ZNF515
Number Sign 610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 10; ARVC10
Asterisk 610194 BETA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE 2; B3GALNT2 UDP-GalNAc:BETA-GLcNAc-BETA-1,3-GALACTOSAMINYLTRANSFERASE, POLYPEPTIDE 2;; B3GalNAc-T2;; MGC39558
Asterisk 610195 PROSTATE TUMOR OVEREXPRESSED GENE 1; PTOV1 ACTIVATOR INTERACTION DOMAIN-CONTAINING PROTEIN 2; ACID2
Asterisk 610196 ELMO/CED12 DOMAIN-CONTAINING PROTEIN 2; ELMOD2
Asterisk 610197 MEDIATOR COMPLEX SUBUNIT 25; MED25 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 25, S. CEREVISIAE, HOMOLOG OF;; PROSTATE TUMOR OVEREXPRESSED GENE 2; PTOV2;; p78;; ACTIVATOR-RECRUITED COFACTOR, 92-KD; ARC92;; ACTIVATOR INTERACTION DOMAIN-CONTAINING PROTEIN 1; ACID1
Number Sign 610198 3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5 CARDIOMYOPATHY, DILATED, WITH ATAXIA; DCMA;; MGA, TYPE V; MGA5
Number Sign 610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; NDH NDH SYNDROME
Asterisk 610200 MITOCHONDRIAL RIBOSOMAL PROTEIN L13; MRPL13 RIBOSOMAL PROTEIN, MITOCHONDRIAL, L13; RPML13;; L13A
Asterisk 610201 CENTROSOMAL PROTEIN, 162-KD; CEP162 KIAA1009;; QN1
Number Sign 610202 CATARACT 21, MULTIPLE TYPES; CTRCT21 CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, CONGENITAL, CERULEAN TYPE, 4; CCA4;; CATARACT, PULVERULENT, JUVENILE-ONSET
Asterisk 610203 CYSTEINE-RICH INHIBITOR OF PAK1; CRIPAK FLJ34443
Number Sign 610204 PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5 OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET
Number Sign 610205 ALAGILLE SYNDROME 2; ALGS2
Asterisk 610206 SOLUTE CARRIER FAMILY 4 (SODIUM BORATE COTRANSPORTER), MEMBER 11; SLC4A11 BICARBONATE TRANSPORTER-RELATED PROTEIN 1; BTR1;; SODIUM-COUPLED BORATE COTRANSPORTER 1; NABC1
Asterisk 610207 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 9; SLC4A9 ANION EXCHANGE PROTEIN 4; AE4
Percent 610208 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10 MGR10;; MIGRAINE WITH PULSATION
Percent 610209 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11 MGR11
Asterisk 610210 MAF1, S. CEREVISIAE, HOMOLOG OF; MAF1
Asterisk 610211 SRA STEM LOOP-INTERACTING RNA-BINDING PROTEIN; SLIRP CHROMOSOME 14 OPEN READING FRAME 156; C14ORF156
Number Sign 610212 DEAFNESS, AUTOSOMAL RECESSIVE 66; DFNB66
Percent 610213 ANEURYSM, INTRACRANIAL BERRY, 4; ANIB4
Asterisk 610214 ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE PROTEIN 3; EDEM3 CHROMOSOME 1 OPEN READING FRAME 22; C1ORF22
Asterisk 610215 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 25; ARHGEF25 RAC- AND CDC42-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR;; GUANINE NUCLEOTIDE EXCHANGE FACTOR GEFT; GEFT;; p63RHOGEF
Asterisk 610216 ANOCTAMIN 8; ANO8 TRANSMEMBRANE PROTEIN 16H; TMEM16H;; KIAA1623
Number Sign 610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED;; NEUROAXONAL DYSTROPHY, ATYPICAL KARAK SYNDROME, INCLUDED
Asterisk 610218 SAP30-BINDING PROTEIN; SAP30BP HUMAN TRANSCRIPTION REGULATOR PROTEIN; HTRP;; HCNGP;; HTRG
Asterisk 610219 DFNB59 GENE PEJVAKIN; PJVK
Number Sign 610220 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59
Asterisk 610221 AKT1 SUBSTRATE 1, PROLINE-RICH; AKT1S1 PROLINE-RICH AKT SUBSTRATE, 40-KD; PRAS40;; MGC2865
Asterisk 610222 RAS AND RAB INTERACTOR 2; RIN2 RAB5-INTERACTING PROTEIN 2;; RAS INHIBITOR JC265
Asterisk 610223 RAS AND RAB INTERACTOR 3; RIN3 RAB5-INTERACTING PROTEIN 3;; FLJ22439
Asterisk 610224 SPERMATOGENESIS- AND OOGENESIS-SPECIFIC BASIC HELIX-LOOP-HELIX PROTEIN 1; SOHLH1 NEWBORN OVARY HELIX-LOOP-HELIX PROTEIN; NOHLH;; TEB2
Asterisk 610225 RIBOSOMAL PROTEIN S19 BINDING PROTEIN 1; RPS19BP1 S19BP;; ACTIVE REGULATOR OF SIRT1; AROS;; MGC52010
Asterisk 610226 ZINC FINGER PROTEIN 750; ZNF750 FLJ13841
Number Sign 610227 SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS
Asterisk 610228 CALPAIN 13; CAPN13 FLJ23523
Asterisk 610229 CALPAIN 14; CAPN14
Asterisk 610230 tRNA 5-METHYLAMINOMETHYL-2-THIOURIDYLATE METHYLTRANSFERASE; TRMU TRNT1;; MTO2, S. CEREVISIAE, HOMOLOG OF; MTO2
Asterisk 610231 POLYCOMB GROUP RING FINGER PROTEIN 1; PCGF1 MGC10882;; NERVOUS SYSTEM POLYCOMB 1; NSPC1;; LETHAL(3)73AH, DROSOPHILA, HOMOLOG OF
Asterisk 610232 ATPase, TYPE 13A3; ATP13A3 ATPase FAMILY HOMOLOG UPREGULATED IN SENESCENCE CELLS; AFURS1
Caret 610233 MOVED TO 211900
Percent 610234 SYNPOLYDACTYLY 3; SPD3
Asterisk 610235 MITOCHONDRIAL PROTEIN, 18-KD MTP18;; HSPC242
Asterisk 610236 LUNAPARK LNP;; KIAA1715
Asterisk 610237 MEDIATOR COMPLEX SUBUNIT 30; MED30 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 25-KD; TRAP25;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 6; THRAP6
Asterisk 610238 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 11; SLC5A11 KST1, RABBIT, HOMOLOG OF; KST1;; SODIUM/GLUCOSE TRANSPORTER 6; SGLT6;; SODIUM MYOINOSITOL COTRANSPORTER 2; SMIT2
Percent 610239 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4 HDLCQ4
Asterisk 610240 LHFP-LIKE PROTEIN 4; LHFPL4
Asterisk 610241 RING FINGER PROTEIN 32; RNF32
Asterisk 610242 CHROMOSOME 7 OPEN READING FRAME 13; C7ORF13
Asterisk 610243 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 27; ZFYVE27 PROTRUDIN
Number Sign 610244 SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33
Number Sign 610245 SPINOCEREBELLAR ATAXIA 23; SCA23
Number Sign 610246 SPINOCEREBELLAR ATAXIA 28; SCA28
Percent 610247 ESOPHAGITIS, EOSINOPHILIC, 1; EOE1 ESOPHAGITIS, EOSINOPHILIC; EE
Percent 610248 DEAFNESS, AUTOSOMAL RECESSIVE 65; DFNB65
Asterisk 610249 PROTEIN O-FUCOSYLTRANSFERASE 2; POFUT2 CHROMOSOME 21 OPEN READING FRAME 80; C21ORF80;; KIAA0958
Number Sign 610250 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31
Number Sign 610251 ALCOHOL SENSITIVITY, ACUTE HANGOVER, SUSCEPTIBILITY TO, INCLUDED
Asterisk 610252 MICRO RNA 1-2; MIR1-2 miRNA1-2;; MIRN1-2
Number Sign 610253 KLEEFSTRA SYNDROME 1; KLEFS1 CHROMOSOME 9q34.3 DELETION SYNDROME;; 9q- SYNDROME;; 9q SUBTELOMERIC DELETION SYNDROME
Asterisk 610254 MICRO RNA 133A1; MIR133A1 miRNA133A1;; MIRN133A1
Asterisk 610255 MICRO RNA 133A2; MIR133A2 miRNA133A2;; MIRN133A2
Number Sign 610256 ANTERIOR SEGMENT DYSGENESIS 2; ASGD2 APHAKIA, CONGENITAL PRIMARY; CPAK;; CPA
Asterisk 610257 SEC31, YEAST, HOMOLOG OF, A; SEC31A SEC31-LIKE 1; SEC31L1;; KIAA0905
Asterisk 610258 SEC31, YEAST, HOMOLOG OF, B; SEC31B SEC31-LIKE 2; SEC31L2
Asterisk 610259 LONG INTERGENIC NONCODING RNA 163; LINC00163 NONCODING RNA 163; NCRNA00163;; NARCOLEPSY CANDIDATE REGION GENE 1A; NLC1A
Percent 610260 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 2; IHPS2
Percent 610261 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 5 HYT5;; HYPERTENSION, ESSENTIAL, BODY MASS-RELATED
Percent 610262 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 6 HYT6;; HYPERTENSION, ESSENTIAL, KIDNEY FUNCTION-RELATED
Asterisk 610263 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 13; DNAJB13 TESTIS SPERMATOGENESIS APOPTOSIS-RELATED PROTEIN 6; TSARG6
Asterisk 610264 TESTIS-PROSTATE-PLACENTA-EXPRESSED PROTEIN; TEPP
Number Sign 610265 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67
Asterisk 610266 TAO KINASE 1; TAOK1 TAO1;; MARK KINASE; MARKK;; PROSTATE-DERIVED STERILE 20-LIKE KINASE 2; PSK2;; KIAA1361
Asterisk 610267 METHIONINE AMINOPEPTIDASE 1D; METAP1D METHIONYL AMINOPEPTIDASE 1D; MAP1D
Asterisk 610268 MONOACYLGLYCEROL O-ACYLTRANSFERASE 1; MOGAT1 ACYL-CoA:MONOACYLGLYCEROL ACYLTRANSFERASE 1;; MGAT1;; DIACYLGLYCEROL O-ACYLTRANSFERASE 2 LIKE-1; DGAT2L1
Number Sign 610269 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2; BULN2 ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2, INCLUDED; ANON2, INCLUDED
Asterisk 610270 MONOACYLGLYCEROL O-ACYLTRANSFERASE 2; MOGAT2 ACYL-CoA:MONOACYLGLYCEROL ACYLTRANSFERASE 2;; MGAT2
Asterisk 610271 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS S PROTEIN; PIGS
Asterisk 610272 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS T PROTEIN; PIGT NEURONAL DEVELOPMENT-ASSOCIATED PROTEIN; NDAP
Asterisk 610273 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS M PROTEIN; PIGM PIGM MANNOSYLTRANSFERASE
Asterisk 610274 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS V PROTEIN; PIGV
Asterisk 610275 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS W PROTEIN; PIGW
Asterisk 610276 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS X PROTEIN; PIGX
Asterisk 610277 ORAI CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 1; ORAI1 CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 1; CRACM1;; TRANSMEMBRANE PROTEIN 142A; TMEM142A
Asterisk 610278 PLATELET ENDOTHELIAL AGGREGATION RECEPTOR 1 PEAR1
Percent 610279 PACHYGYRIA, FRONTOTEMPORAL
Asterisk 610280 OSTEOCRIN; OSTN MUSCLIN
Asterisk 610281 ZINC FINGER PROTEIN 62; ZFP62
Number Sign 610282 RETINITIS PIGMENTOSA 35; RP35
Number Sign 610283 CONE-ROD DYSTROPHY 10; CORD10
Asterisk 610284 LIPOYLTRANSFERASE 1; LIPT1
Asterisk 610285 DOWNSTREAM OF TYROSINE KINASE 7; DOK7 CHROMOSOME 4 OPEN READING FRAME 25; C4ORF25
Asterisk 610286 LEUCINE CARBOXYL METHYLTRANSFERASE 1; LCMT1
Asterisk 610287 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 15; FBXL15 JETLAG, DROSOPHILA, HOMOLOG OF; JET;; F-BOX ONLY PROTEIN 37
Asterisk 610288 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 6; GOLGA6 GOLGIN LINKED TO PML; GLP
Asterisk 610289 3-OXOACID CoA TRANSFERASE 2; OXCT2 SCOT-T;; FLJ00030
Asterisk 610290 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 12; GALNT12 GalNAc TRANSFERASE 12; GalNAcT12
Asterisk 610291 SYNAPTIC VESICLE GLYCOPROTEIN 2C; SV2C
Asterisk 610292 B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1 FLJ20706;; BANK
Number Sign 610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY; GPID GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1; GPIBD1
Percent 610294 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2 INTLQ2
Percent 610295 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 3 INTLQ3
Asterisk 610296 NUDC DOMAIN-CONTAINING PROTEIN 3; NUDCD3 KIAA1068;; NUDC-LIKE PROTEIN; NUDCL
Number Sign 610297 PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13
Asterisk 610298 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY B, MEMBER 2; PHLDB2 LL5-BETA
Asterisk 610299 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 17; SLC6A17 NTT4
Asterisk 610300 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 18; SLC6A18 XTRP2
Asterisk 610301 TRANSMEMBRANE PROTEIN 57; TMEM57 MACOILIN;; FLJ10747
Asterisk 610302 ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE PROTEIN 2; EDEM2
Asterisk 610303 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG A; MAFA RIPE3B1
Asterisk 610304 DER1-LIKE DOMAIN FAMILY, MEMBER 2; DERL2 F-LANa;; DERLIN 2
Asterisk 610305 DER1-LIKE DOMAIN FAMILY, MEMBER 3; DERL3 DERLIN 3
Asterisk 610306 NEPHRONECTIN; NPNT PREOSTEOBLAST EGF-LIKE REPEAT PROTEIN WITH MAM DOMAIN; POEM
Asterisk 610307 CERAMIDE KINASE; CERK KIAA1646
Asterisk 610308 BETA-3-GLUCOSYLTRANSFERASE; B3GLCT UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE; B3GALTL;; BETA-3-GLYCOSYLTRANSFERASE-LIKE; B3GTL;; BETA-1,3-GLUCOSYLTRANSFERASE
Asterisk 610309 UBIQUITIN-CONJUGATING ENZYME E2S; UBE2S EPF5;; E2EPF
Asterisk 610310 LOC152586 GENE LOC152586
Asterisk 610311 MEDIATOR COMPLEX SUBUNIT 28; MED28 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 28, S. CEREVISIAE, HOMOLOG OF;; ENDOTHELIAL-DERIVED GENE 1; EG1;; MERLIN- AND GRB2-INTERACTING CYTOSKELETAL PROTEIN;; MAGICIN
Asterisk 610312 PIWI-LIKE 2: PIWIL2 MILI, MOUSE, HOMOLOG OF; MILI
Number Sign 610313 COLD-INDUCED SWEATING SYNDROME 2; CISS2
Asterisk 610314 PIWI-LIKE 3: PIWIL3
Asterisk 610315 PIWI-LIKE 4; PIWIL4 HIWI2;; MIWI2, MOUSE, HOMOLOG OF; MIWI2
Asterisk 610316 POLYRIBONUCLEOTIDE NUCLEOTIDYLTRANSFERASE 1; PNPT1 OLD35;; PNPase
Asterisk 610317 CORDON-BLEU, MOUSE, HOMOLOG OF; COBL KIAA0633
Asterisk 610318 COBL-LIKE PROTEIN 1: COBLL1 COBL-RELATED PROTEIN 1; COBLR1;; KIAA0977
NULL 610319 RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA
Percent 610320 MYOPIA 14; MYP14
Percent 610321 PROSTATE CANCER, HEREDITARY, 7; HPC7 PROSTATE CANCER AGGRESSIVENESS
Asterisk 610322 TRANSCRIPTIONAL REGULATING FACTOR 1; TRERF1 TRANSCRIPTIONAL REGULATING PROTEIN, 132-KD; TREP132
Asterisk 610323 METADHERIN; MTDH METASTASIS ADHESION PROTEIN;; LYRIC;; ASTROCYTE ELEVATED GENE 1; AEG1
Asterisk 610324 3-OXOACYL-ACP SYNTHASE, MITOCHONDRIAL; OXSM BETA-KETOACYL SYNTHASE, MITOCHONDRIAL; KS
Asterisk 610325 NUCLEAR DISTRIBUTION GENE C, A. NIDULANS, HOMOLOG OF; NUDC
Asterisk 610326 RIBONUCLEASE H2, SUBUNIT B; RNASEH2B DLEU8;; FLJ11712
Asterisk 610327 RUN AND FYVE DOMAINS-CONTAINING PROTEIN 1; RUFY1
Asterisk 610328 RUN AND FYVE DOMAINS-CONTAINING PROTEIN 2; RUFY2 KIAA1537
Number Sign 610329 AICARDI-GOUTIERES SYNDROME 3; AGS3
Asterisk 610330 RIBONUCLEASE H2, SUBUNIT C; RNASEH2C AYP1;; FLJ20974
Asterisk 610331 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 6; HES6
Caret 610332 MOVED TO 608572
Number Sign 610333 AICARDI-GOUTIERES SYNDROME 4; AGS4
Asterisk 610334 HEPATOCELLULAR CARCINOMA-ASSOCIATED ANTIGEN 112 HCA112;; GS188
Asterisk 610335 PHD FINGER PROTEIN 20; PHF20 GLIOMA-EXPRESSED ANTIGEN 2; GLEA2;; HEPATOCELLULAR CARCINOMA-ASSOCIATED ANTIGEN 58; HCA58
Asterisk 610336 C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 4C; C2CD4C NUCLEAR-LOCALIZED FACTOR 3; NLF3;; KIAA1957
Asterisk 610337 UPREGULATOR OF CELL PROLIFERATION; URGCP HEPATITIS B VIRUS-ENCODED X ANTIGEN-UPREGULATED GENE 4;; HBX ANTIGEN-UPREGULATED GENE 4;; URG4
NULL 610338 RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, WITH VENTRICULAR SEPTAL DEFECT, PATENT FORAMEN OVALE, AND PATENT DUCTUS ARTERIOSUS;; ARPA, FAMILIAL
Asterisk 610339 PROLYL 3-HYDROXYLASE 1; P3H1 LEUCINE- AND PROLINE-ENRICHED PROTEOGLYCAN 1; LEPRE1;; LEPRECAN;; GROWTH SUPPRESSOR 1; GROS1
Asterisk 610340 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 4B; EPB41L4B EXPRESSED IN HIGHLY METASTATIC CELLS 2; EHM2
Asterisk 610341 PROLYL 3-HYDROXYLASE 2; P3H2 LEPRECAN-LIKE 1; LEPREL1
Asterisk 610342 PROLYL 3-HYDROXYLASE 3; P3H3 LEPRECAN-LIKE 2; LEPREL2
Asterisk 610343 C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 4A; C2CD4A NUCLEAR-LOCALIZED FACTOR 1; NLF1
Asterisk 610344 C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 4B; C2CD4B NUCLEAR-LOCALIZED FACTOR 2; NLF2
Asterisk 610345 ACYLGLYCEROL KINASE; AGK MULTISUBSTRATE LIPID KINASE; MULK
Asterisk 610346 CDC37-LIKE 1; CDC37L1 CELL DIVISION CYCLE 37, S. CEREVISIAE, HOMOLOG-LIKE 1; CDC37L1;; HSP90-ASSOCIATING RELATIVE OF CDC37; HARC;; FLJ20639
Asterisk 610347 REGULATION OF NUCLEAR PRE-mRNA DOMAIN-CONTAINING PROTEIN 1A; RPRD1A CYCLIN-DEPENDENT KINASE INHIBITOR 2B-RELATED PROTEIN;; CDKN2B-RELATED PROTEIN;; P15(INK4B)-RELATED PROTEIN;; P15RS;; FLJ10656
Asterisk 610348 FAMILY WITH SEQUENCE SIMILARITY 178, MEMBER A; FAM178A CHROMOSOME 10 OPEN READING FRAME 6; C10ORF6
Asterisk 610349 MEF2-ACTIVATING SAP TRANSCRIPTIONAL REGULATOR; MAMSTR MASTR
Asterisk 610350 LINES, DROSOPHILA, HOMOLOG OF; LINS LINES, DROSOPHILA, HOMOLOG OF, 1; LINS1;; WINS1;; FLJ10583
Asterisk 610351 PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 3, ALPHA; PPP4R3A PP4R3-ALPHA; PP4R3A;; SUPPRESSOR OF MEK1, DICTYOSTELIUM, HOMOLOG OF, 1; SMEK1;; MEK1 SUPPRESSOR 1;; KIAA2010
Asterisk 610352 PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 3, BETA; PPP4R3B PP4R3-BETA; PP4R3B;; SUPPRESSOR OF MEK1, DICTYOSTELIUM, HOMOLOG OF, 2; SMEK2;; MEK1 SUPPRESSOR 2;; KIAA1387
Number Sign 610353 EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4 EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR
Asterisk 610354 CONNEXIN 43-INTERACTING PROTEIN, 150-KD CIP150;; RIC1, S. CEREVISIAE, HOMOLOG OF; RIC1;; KIAA1432
Asterisk 610355 PARTNER AND LOCALIZER OF BRCA2; PALB2 FANCN GENE; FANCN
Number Sign 610356 RETINAL CONE DYSTROPHY 3B; RCD3B CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES; CDSRR;; CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, KCNV2-RELATED
Number Sign 610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30
Asterisk 610358 SIGNAL PEPTIDASE COMPLEX, SUBUNIT 1, S. CEREVISIAE, HOMOLOG OF; SPCS1 SIGNAL PEPTIDASE, 12-KD SUBUNIT; SPC12
Number Sign 610359 RETINITIS PIGMENTOSA 33; RP33
Asterisk 610360 MUCIN 20, CELL SURFACE-ASSOCIATED; MUC20
Percent 610361 OROFACIAL CLEFT 9; OFC9 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 9
Asterisk 610362 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX 2; RAX2 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX-LIKE 1; RAXL1;; Q50-TYPE RETINAL HOMEOBOX; QRX
Asterisk 610363 PEPTIDYLARGININE DEIMINASE, TYPE VI; PADI6
Asterisk 610364 TRANSMEMBRANE BAX INHIBITOR MOTIF-CONTAINING PROTEIN 1; TMBIM1 RESPONSIVE TO CENTRIFUGAL FORCE AND SHEAR STRESS 1; RECS1
Asterisk 610365 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 1; C1QTNF1 G PROTEIN-COUPLED RECEPTOR-INTERACTING PROTEIN; GIP
Asterisk 610366 ADAPTOR-RELATED PROTEIN COMPLEX 3, MU-1 SUBUNIT; AP3M1 CLATHRIN ADAPTOR COMPLEX AP3, MU-3A SUBUNIT
Asterisk 610367 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 11; SLC2A11 GLUCOSE TRANSPORTER 11; GLUT11
Asterisk 610368 LEUCINE-RICH REPEATS AND CALPONIN HOMOLOGY DOMAIN-CONTAINING 1; LRCH1 KIAA1016
Asterisk 610369 HEAT-SHOCK 70-KD PROTEIN 14; HSPA14 HSP70-LIKE 1; HSP70L1
Number Sign 610370 DIARRHEA 4, MALABSORPTIVE, CONGENITAL; DIAR4 ENTERIC ANENDOCRINOSIS
Asterisk 610371 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 7; SLC2A7 GLUCOSE TRANSPORTER 7; GLUT7
Asterisk 610372 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 12; SLC2A12 GLUCOSE TRANSPORTER 12; GLUT12
Asterisk 610373 DEAD/H BOX 50; DDX50 RH-II/GU-BETA; GUB
Number Sign 610374 DIABETES MELLITUS, TRANSIENT NEONATAL, 2 TNDM2
Asterisk 610375 CAPRIN FAMILY, MEMBER 2; CAPRIN2 CYTOPLASMIC ACTIVATION- AND PROLIFERATION-ASSOCIATED PROTEIN 2;; CAPRIN 2;; EEG1;; RNA GRANULE PROTEIN 140; RNG140;; C1q DOMAIN-CONTAINING PROTEIN 1; C1QDC1;; KIAA1873
Asterisk 610376 ATYPICAL CHEMOKINE RECEPTOR 3; ACKR3 CHEMOKINE, CXC MOTIF, RECEPTOR 7; CXCR7;; CHEMOKINE ORPHAN RECEPTOR 1; CMKOR1;; G PROTEIN-COUPLED RECEPTOR 159; GPR159;; RDC1
Number Sign 610377 MEVALONIC ACIDURIA; MEVA
Asterisk 610378 GLIS FAMILY ZINC FINGER PROTEIN 1; GLIS1 GLI-SIMILAR PROTEIN 1
Number Sign 610379 WEST NILE VIRUS, SUSCEPTIBILITY TO WNV, SUSCEPTIBILITY TO
Caret 610380 MOVED TO 610168
Number Sign 610381 CONE-ROD DYSTROPHY 11; CORD11
Percent 610382 PROSOPAGNOSIA, HEREDITARY FACE BLINDNESS;; PROSOPAGNOSIA, DEVELOPMENTAL;; PROSOPAGNOSIA, CONGENITAL
Asterisk 610383 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 9; RASSF9 PEPTIDYLGLYCINE ALPHA-AMIDATING MONOOXYGENASE C-TERMINAL INTERACTOR;; PAMCI;; PAM C-TERMINAL INTERACTOR PROTEIN 1; PCIP1
Asterisk 610384 HECT, C2, AND WW DOMAINS-CONTAINING E3 UBIQUITIN-PROTEIN LIGASE 1; HECW1 NEDD4-LIKE UBIQUITIN-PROTEIN LIGASE 1; NEDL1;; KIAA0322
Asterisk 610385 LR8 PROTEIN; LR8
Asterisk 610386 BTB/POZ DOMAIN-CONTAINING PROTEIN 7; BTBD7 FUP1
Asterisk 610387 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL IRON CARRIER), MEMBER 37; SLC25A37 MITOFERRIN; MFRN;; MFRN1
Asterisk 610388 RRAD- AND GEM-LIKE GTPase 1; REM1 RAS (RAD AND GEM)-LIKE GTP-BINDING PROTEIN 1;; GTPase-REGULATING ENDOTHELIAL CELL-SPROUTING PROTEIN; GES
Asterisk 610389 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MAPK AND MTOR ACTIVATOR 2; LAMTOR2 MAPBP-INTERACTING PROTEIN; MAPBPIP;; p14
Asterisk 610390 MACROPHAGE EXPRESSED GENE 1 MPEG1;; MPG1
Asterisk 610391 PHOSPHOLIPID PHOSPHATASE-RELATED PROTEIN 3; PLPPR3 PLASTICITY-RELATED GENE 2;; LIPID PHOSPHATE PHOSPHATASE-RELATED 3; LPPR3;; LPR3;; PRG2
Asterisk 610392 MYC-BINDING PROTEIN 2; MYCBP2 PROTEIN ASSOCIATED WITH MYC; PAM;; KIAA0916
Asterisk 610393 GON4-LIKE PROTEIN; GON4L KIAA1606
Asterisk 610394 GLIPR1-LIKE PROTEIN 2; GLIPR1L2
Asterisk 610395 GLIPR1-LIKE PROTEIN 1; GLIPR1L1
Asterisk 610396 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 6A; TRAPPC6A TRAPP COMPLEX, SUBUNIT 6A
Asterisk 610397 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 6B; TRAPPC6B TRAPP COMPLEX, SUBUNIT 6B;; TPC6
Asterisk 610398 SAP30-LIKE PROTEIN; SAP30L
Asterisk 610399 TRANSMEMBRANE PROTEASE, SERINE 11E; TMPRSS11E DESC1
Asterisk 610400 MACRO DOMAIN-CONTAINING 1; MACROD1 LRP16 PROTEIN; LRP16
Asterisk 610401 NETRIN 4; NTN4 BETA-NETRIN
Caret 610402 MOVED TO 609122 AND 300870
Asterisk 610403 CULLIN-ASSOCIATED NEDDYLATION-DISSOCIATED 2; CAND2 TBP-INTERACTING PROTEIN B; TIP120B;; KIAA0667
Asterisk 610404 RECQ-MEDIATED GENOME INSTABILITY 1, S. CEREVISIAE, HOMOLOG OF; RMI1 BLM-ASSOCIATED PROTEIN, 75-KD; BLAP75;; CHROMOSOME 9 OPEN READING FRAME 76; C9ORF76
Asterisk 610405 CHONDROITIN POLYMERIZING FACTOR; CHPF CHONDROITIN SULFATE SYNTHASE 2; CSS2
Asterisk 610406 TRANSFER RNA ARGININE 1; TRNAR1 tRNA ARGININE 1; TRR1
Asterisk 610407 TRANSFER RNA GLYCINE 2; TRNAG2 tRNA GLYCINE 2; TRG2
Asterisk 610408 SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 3; SLC15A3 PEPTIDE/HISTIDINE TRANSPORTER 2; PHT2
Asterisk 610409 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 8; SLC16A8 MONOCARBOXYLATE TRANSPORTER 3; MCT3
Asterisk 610410 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 1; DHRS1 SDR FAMILY, MEMBER 1
Asterisk 610411 IMPORTIN 13; IPO13 IMP13;; KIAA0724;; RAN-BINDING PROTEIN 13; RANBP13;; KARYOPHERIN 13 KAP13
Asterisk 610412 SERINE PALMITOYLTRANSFERASE, SMALL SUBUNIT, B; SPTSSB SMALL SUBUNIT OF SERINE PALMITOYLTRANSFERASE B; SSSPTB;; ADMP, MOUSE, HOMOLOG OF; ADMP;; CHROMOSOME 3 OPEN READING FRAME 57; C3ORF57
Asterisk 610413 INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN-LIKE 1; IGFBPL1 IGFBP-RELATED PROTEIN 4; IGFBPRP4
Asterisk 610414 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 15; NBPF15 MGC8902
Asterisk 610415 SYNTAXIN-BINDING PROTEIN 4; STXBP4 STX4-INTERACTING PROTEIN; SYNIP
Asterisk 610416 SCAN DOMAIN-CONTAINING 1; SCAND1 RAZ1;; SDP1
Asterisk 610417 SCAN DOMAIN-CONTAINING 2; SCAND2
Asterisk 610418 WD REPEAT- AND FYVE DOMAIN-CONTAINING PROTEIN 2; WDFY2
Number Sign 610419 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68
Percent 610420 PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1
Asterisk 610421 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED PROTEIN 3; KHDRBS3 TSTAR;; ETOILE;; SALP;; SLM2
Percent 610422 ALOPECIA-MENTAL RETARDATION SYNDROME 2; APMR2
Asterisk 610423 PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 2; PACS2 KIAA0602
Number Sign 610424 HEPATITIS B VIRUS, SUSCEPTIBILITY TO HBV, SUSCEPTIBILITY TO HEPATITIS B VIRUS, RESISTANCE TO, INCLUDED;; HBV, RESISTANCE TO, INCLUDED
Number Sign 610425 CATARACT 23, MULTIPLE TYPES; CTRCT23 CATARACT 23, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
Caret 610426 MOVED TO 610425
Number Sign 610427 CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B, FORMERLY; CSNB2B, FORMERLY;; NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE, FORMERLY
Asterisk 610428 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX18; COX18 COX18, S. CEREVISIAE, HOMOLOG OF;; MITOCHONDRIAL COX18
Asterisk 610429 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX19; COX19 COX19, S. CEREVISIAE, HOMOLOG OF
Percent 610430 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 2; WM2
Asterisk 610431 RING FINGER PROTEIN 167; RNF167 RING105
Asterisk 610432 RING FINGER PROTEIN 125; RNF125 T-CELL RING PROTEIN IDENTIFIED IN ACTIVATION SCREEN; TRAC1
Asterisk 610433 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G5B; LY6G5B G5B
Asterisk 610434 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G5C; LY6G5C G5C
Asterisk 610435 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G6C; LY6G6C G6C
Asterisk 610436 ROTATIN; RTTN
Asterisk 610437 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G6E; LY6G6E G6E
Percent 610438 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3; RLS3
Percent 610439 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 4; RLS4
Asterisk 610440 SMALL G PROTEIN SIGNALING MODULATOR 3; SGSM3 RUN AND TBC1 DOMAINS-CONTAINING PROTEIN 3; RUTBC3;; MERLIN-ASSOCIATED PROTEIN; MAP;; MERLIN-BINDING PROTEIN;; RUSC3
Percent 610441 TESTICULAR MICROLITHIASIS
Number Sign 610442 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE; SEMDG SEMD, GENEVIEVE TYPE;; NANS DEFICIENCY
Number Sign 610443 KOOLEN-DE VRIES SYNDROME; KDVS CHROMOSOME 17q21.31 DELETION SYNDROME;; MICRODELETION 17q21.31 SYNDROME
Number Sign 610444 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3 NIGHT BLINDNESS, CONGENITAL STATIONARY, NOUGARET TYPE
Number Sign 610445 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1 NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED
Number Sign 610446 BURULI ULCER, SUSCEPTIBILITY TO MYCOBACTERIUM ULCERANS, SUSCEPTIBILITY TO
Asterisk 610447 SHADOW OF PRION PROTEIN; SPRN SHADOO;; SHO
Number Sign 610448 CHILBLAIN LUPUS 1; CHBL1
Asterisk 610449 MITOCHONDRIAL CARRIER HOMOLOG 1; MTCH1 PRESENILIN-ASSOCIATED PROTEIN; PSAP
Asterisk 610450 LY6/PLAUR DOMAIN-CONTAINING PROTEIN 1; LYPD1 PUTATIVE HELA TUMOR SUPPRESSOR; PHTS
Asterisk 610451 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 35; LRRC35 E-LIKE PROTEIN; EL
Percent 610452 MUTAGEN SENSITIVITY
Asterisk 610453 HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; HGSNAT TRANSMEMBRANE PROTEIN 76; TMEM76
Asterisk 610454 LEUCINE ZIPPER, PUTATIVE TUMOR SUPPRESSOR 2; LZTS2 KIAA1813;; LAPSER1
Number Sign 610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA
Asterisk 610456 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9; SAMD9
Asterisk 610457 SPHINGOMYELIN PHOSPHODIESTERASE 4, NEUTRAL MEMBRANE; SMPD4 SPHINGOMYELINASE, NEUTRAL, 3; NSMASE3;; KIAA1418
Asterisk 610458 LEUCINE ZIPPER AND CTNNBIP1 DOMAINS-CONTAINING PROTEIN; LZIC
Asterisk 610459 PROLINE-RICH PROTEIN 13; PRR13 TAXOL RESISTANCE GENE 1; TXR1
Number Sign 610460 THIOPURINES, POOR METABOLISM OF, 1; THPM1 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY; TPMTD;; TPMT DEFICIENCY
Asterisk 610461 RETICULON 4 RECEPTOR-LIKE 1; RTN4RL1 NOGO-66 RECEPTOR HOMOLOG 2; NGRH2;; NOGO-66 RECEPTOR-RELATED PROTEIN 3; NGR3
Asterisk 610462 RETICULON 4 RECEPTOR-LIKE 2; RTN4RL2 NOGO-66 RECEPTOR HOMOLOG 1; NGRH1;; NOGO-66 RECEPTOR-RELATED PROTEIN 2; NGR2
Asterisk 610463 NUCLEAR UNDECAPRENYL PYROPHOSPHATE SYNTHASE 1, S. CEREVISIAE, HOMOLOG OF; NUS1 NOGOB RECEPTOR; NGBR;; CHROMOSOME 6 OPEN READING FRAME 68; C6ORF68
Asterisk 610464 G PROTEIN-COUPLED RECEPTOR 156; GPR156 GABABL
Asterisk 610465 ACYL-CoA SYNTHETASE FAMILY, MEMBER 2; ACSF2 FLJ20920
Asterisk 610466 LIMB EXPRESSION 1, MOUSE, HOMOLOG OF; LIX1
Asterisk 610467 3-HYDROXYACYL-CoA DEHYDRATASE 1; HACD1 PROTEIN TYROSINE PHOSPHATASE-LIKE (PROLINE INSTEAD OF CATALYTIC ARGININE), MEMBER A; PTPLA
Asterisk 610468 INTERFERON-INDUCED PROTEIN 44; IFI44 INTERFERON-INDUCED, HEPATITIS C-ASSOCIATED MICROTUBULE AGGREGATE PROTEIN, 44 kD;; p44
Asterisk 610469 ADAPTOR-RELATED PROTEIN COMPLEX 3, MU-2 SUBUNIT; AP3M2 CLATHRIN ADAPTOR COMPLEX AP3, MU-3B SUBUNIT;; CLA20
Asterisk 610470 TRANSFER RNA PHOSPHOTRANSFERASE 1; TRPT1 tRNA PHOSPHOTRANSFERASE 1
Asterisk 610471 VASOHIBIN 2; VASH2
Asterisk 610472 ACYLTRANSFERASE-LIKE 2; AYTL2 LYSOPHOSPHATIDYLCHOLINE ACYLTRANSFERASE; LPCAT;; LPC ACYLTRANSFERASE 1; LPCAT1
Asterisk 610473 LYSOPHOSPHATIDYLGLYCEROL ACYLTRANSFERASE 1; LPGAT1
Number Sign 610474 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME; CATSHLS CATSHL SYNDROME
Number Sign 610475 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2;; CUSHING SYNDROME, ADRENAL, DUE TO PPNAD2
Number Sign 610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11; ARVC11 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR, INCLUDED
Asterisk 610477 TRANSMEMBRANE PROTEASE, SERINE 9; TMPRSS9 POLYSERASE 1
Number Sign 610478 RETINAL CONE DYSTROPHY 4; RCD4
Asterisk 610479 SERUM RESPONSE FACTOR BINDING PROTEIN 1; SRFBP1 SRF-DEPENDENT TRANSCRIPTION REGULATION-ASSOCIATED PROTEIN;; p49/STRAP;; p49
Asterisk 610480 LEM DOMAIN-CONTAINING PROTEIN 1; LEMD1
Asterisk 610481 SH2 DOMAIN-CONTAINING PROTEIN D; SHD
Asterisk 610482 SH2 DOMAIN-CONTAINING PROTEIN E; SHE
Percent 610483 AGAMMAGLOBULINEMIA, MICROCEPHALY, AND SEVERE DERMATITIS
Asterisk 610484 PROLINE-RICH SYNAPSE-ASSOCIATED PROTEIN-INTERACTING PROTEIN 1 PROSAP-INTERACTING PROTEIN 1; PROSAPIP1;; KIAA0552
Asterisk 610485 LOSS OF HETEROZYGOSITY, CHROMOSOME 3, REGION 2, GENE A; LOH3CR2A ESTROGEN RECEPTOR REPRESSOR, 10-KD; ERR10;; NAG7
Asterisk 610486 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 4; LRRC4
Asterisk 610487 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED PROTEIN 2; KHDRBS2 SLM1
Asterisk 610488 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 9; TTC9 KIAA0227
Number Sign 610489 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1;; CUSHING SYNDROME, ADRENAL, DUE TO PPNAD1;; ADRENOCORTICAL NODULAR DYSPLASIA, PRIMARY
Asterisk 610490 PURPLE ACID PHOSPHATASE, LONG FORM PAPL;; FLJ16165
Asterisk 610491 SLAIN MOTIF FAMILY, MEMBER 1; SLAIN1
Asterisk 610492 SLAIN MOTIF FAMILY, MEMBER 2; SLAIN2 KIAA1458
Asterisk 610493 DIX DOMAIN-CONTAINING PROTEIN 1; DIXDC1 COILED-COIL DIX1; CCD1;; KIAA1735
Asterisk 610494 DDB1- AND CUL4-ASSOCIATED FACTOR 6; DCAF6 IQ MOTIF- AND WD REPEATS-CONTAINING 1; IQWD1;; NUCLEAR RECEPTOR INTERACTION PROTEIN; NRIP;; HOM-TES-88/94/95
Asterisk 610495 HOM-TES-103 GENE
Asterisk 610496 RHO GTPase-ACTIVATING PROTEIN 29; ARHGAP29 PTPL1-ASSOCIATED RHOGAP1; PARG1
Asterisk 610497 BRAIN AND REPRODUCTIVE ORGAN-EXPRESSED PROTEIN; BRE BRCC4;; BRCC45
Number Sign 610498 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2 CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS
Asterisk 610499 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; RAPGEF6 RAS-ASSOCIATING GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; RAGEF2;; PDZ DOMAIN-CONTAINING GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; PDZGEF2
Asterisk 610500 ANKYRIN REPEAT AND KH DOMAIN-CONTAINING PROTEIN 1; ANKHD1 MULTIPLE ANKYRIN REPEATS, SINGLE KH-DOMAIN, DROSOPHILA, HOMOLOG OF; MASK;; KIAA1085 MASK-BP3, INCLUDED;; VPR-BINDING ANKYRIN REPEAT PROTEIN, INCLUDED; VBARP, INCLUDED
Asterisk 610501 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 1; NBPF1 KIAA1693
Asterisk 610502 RETICULON 4-INTERACTING PROTEIN 1; RTN4IP1 NOGO-INTERACTING MITOCHONDRIAL PROTEIN; NIMP
Asterisk 610503 CHROMOSOME 16 OPEN READING FRAME 5; C16ORF5
Number Sign 610504 PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM
Number Sign 610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3 ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;; CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS
Asterisk 610506 PAF1 RNA POLYMERASE II-ASSOCIATED FACTOR, S. CEREVISIAE, HOMOLOG OF; PAF1 PANCREATIC DIFFERENTIATION PROTEIN 2; PD2
Asterisk 610507 LEO1 RNA POLYMERASE II ASSOCIATED FACTOR, S. CEREVISIAE, HOMOLOG OF; LEO1 REPLICATIVE SENESCENCE DOWNREGULATED LEO1-LIKE; RDL
Number Sign 610508 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7
Asterisk 610509 RESISTANCE TO INHIBITORS OF CHOLINESTERASE 3, C. ELEGANS, HOMOLOG OF; RIC3
Asterisk 610510 AURORA BOREALIS; BORA CHROMOSOME 13 OPEN READING FRAME 34; C13ORF34
Asterisk 610511 SEC23, S. CEREVISIAE, HOMOLOG OF, A; SEC23A
Asterisk 610512 SEC23, S. CEREVISIAE, HOMOLOG OF, B; SEC23B
Asterisk 610513 ATPase, TYPE 13A2; ATP13A2
Asterisk 610514 PHD FINGER PROTEIN 17; PHF17 GENE FOR APOPTOSIS AND DIFFERENTIATION IN EPITHELIA; JADE1;; KIAA1807
Asterisk 610515 PHD FINGER PROTEIN 15; PHF15 JADE2;; KIAA0239
Asterisk 610516 GLYCERATE KINASE; GLYCTK GLYCTK1 GLYCTK2, INCLUDED
Asterisk 610517 CONTACTIN-ASSOCIATED PROTEIN-LIKE 3; CNTNAP3 CONTACTIN-ASSOCIATED PROTEIN 3; CASPR3;; KIAA1714
Asterisk 610518 CONTACTIN-ASSOCIATED PROTEIN-LIKE 4; CNTNAP4 CONTACTIN-ASSOCIATED PROTEIN 4; CASPR4;; KIAA1763
Asterisk 610519 CONTACTIN-ASSOCIATED PROTEIN-LIKE 5; CNTNAP5 CONTACTIN-ASSOCIATED PROTEIN 5; CASPR5
Asterisk 610520 CD300 ANTIGEN-LIKE FAMILY, MEMBER G; CD300LG TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 4; TREM4;; CLM9;; NEPMUCIN
Asterisk 610521 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 12; KCTD12 PREDOMINANTLY FETAL-EXPRESSED T1 DOMAIN; PFET1;; PFETIN;; KIAA1778;; CHROMOSOME 13 OPEN READING FRAME 2; C13ORF2
Asterisk 610522 COORDINATED EXPRESSION TO IRXA2 CEI
Asterisk 610523 CENTROSOMAL PROTEIN, 41-KD; CEP41 TESTIS-SPECIFIC PROTEIN A14 TESTIS-SPECIFIC PROTEIN 14, FORMERLY; TSGA14, FORMERLY
Asterisk 610524 ENDOGENOUS RETROVIRUS GROUP FRD, MEMBER 1; ERVFRD1 HUMAN ENDOGENOUS RETROVIRUS FRD ENVELOPE PROTEIN;; HERV-FRD ENV PROTEIN;; SYNCYTIN 2;; SYNCYTIN B, MOUSE, HOMOLOG OF
Asterisk 610525 5-PRIME-NUCLEOTIDASE, CYTOSOLIC, IA; NT5C1A NUCLEOTIDASE, 5-PRIME, CYTOSOLIC, IA;; CYTOSOLIC 5-PRIME NUCLEOTIDASE IA; CNIA; CN1A;; CYTOSOLIC 5-PRIME NUCLEOTIDASE I; CNI; CN1
Asterisk 610526 5-PRIME-NUCLEOTIDASE, CYTOSOLIC, IB; NT5C1B NUCLEOTIDASE, 5-PRIME, CYTOSOLIC, IB;; CYTOSOLIC 5-PRIME NUCLEOTIDASE IB; CNIB; CN1B;; AUTOIMMUNE INFERTILITY-RELATED PROTEIN; AIRP
Asterisk 610527 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 1; TXNDC1 TRANSMEMBRANE TRX-RELATED PROTEIN; TMX
Asterisk 610528 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 8; CHD8 AXIS DUPLICATION INHIBITOR; DUPLIN;; KIAA1564
Asterisk 610529 TUMOR SUPPRESSOR CANDIDATE 1; TUSC1 TSG9
Asterisk 610530 TRIPARTITE MOTIF-CONTAINING PROTEIN 41; TRIM41
Asterisk 610531 FAMILY WITH SEQUENCE SIMILARITY 126, MEMBER A; FAM126A DOWNREGULATED BY CTNNB1, PROTEIN A; DRCTNNB1A;; HYCCIN
Number Sign 610532 LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5 HYPOMYELINATION AND CONGENITAL CATARACT: HCC
Asterisk 610533 WW, C2, AND COILED-COIL DOMAIN-CONTAINING 1; WWC1 KIDNEY AND BRAIN EXPRESSED PROTEIN; KIBRA;; KIAA0869
Asterisk 610534 DECAPPING ENZYME, SCAVENGER; DCPS HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 5; HINT5;; DCS1, C. ELEGANS, HOMOLOG OF; DCS1
Percent 610535 GLAUCOMA 1, OPEN ANGLE, M; GLC1M
Number Sign 610536 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY; MFDM;; GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY, AND CLEFT PALATE
Asterisk 610537 DIPEPTIDYL PEPTIDASE VII; DPP7 QUIESCENT CELL PROLINE DIPEPTIDASE; QPP
Asterisk 610538 UBIQUITIN-CONJUGATING ENZYME E2T; UBE2T HSPC150
Number Sign 610539 GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
Asterisk 610540 GNAS COMPLEX LOCUS, ANTISENSE TRANSCRIPT 1; GNASAS1 GNASAS;; SANG;; GNAS1, ANTISENSE; GNAS1AS;; NESP, ANTISENSE; NESPAS
Asterisk 610541 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3B; PPP1R3B PROTEIN PHOSPHATASE 1, GLYCOGEN-TARGETING SUBUNIT, LIVER; GL;; PP1G, HEPATIC
Number Sign 610542 MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1; CMSTA1
Number Sign 610543 CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL RUBINSTEIN-TAYBI DELETION SYNDROME;; RSTS DELETION SYNDROME
Asterisk 610544 IGF-LIKE FAMILY MEMBER 1; IGFL1
Asterisk 610545 IGF-LIKE FAMILY MEMBER 2; IGFL2
Asterisk 610546 IGF-LIKE FAMILY MEMBER 3; IGFL3
Asterisk 610547 IGF-LIKE FAMILY MEMBER 4; IGFL4
Asterisk 610548 AQUARIUS, MOUSE, HOMOLOG OF; AQR INTRON-BINDING PROTEIN, 160-KD; IBP160;; KIAA0560
Number Sign 610549 DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS;; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A;; IRAN, TYPE A
Asterisk 610550 METHIONINE ADENOSYLTRANSFERASE I, ALPHA; MAT1A MATA1;; S-ADENOSYLMETHIONINE SYNTHETASE 1; SAMS1;; SAMS, LIVER-SPECIFIC
Number Sign 610551 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1; IIAE1 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1
Asterisk 610552 UBIQUITIN-LIKE MODIFIER ACTIVATING ENZYME 5; UBA5 UBIQUITIN-ACTIVATING ENZYME E1 DOMAIN-CONTAINING 1; UBE1DC1
Asterisk 610553 UBIQUITIN-FOLD MODIFIER 1; UFM1
Asterisk 610554 UBIQUITIN-FOLD MODIFIER-CONJUGATING ENZYME 1; UFC1 UFM1-CONJUGATING ENZYME 1
Asterisk 610555 CORE 1 SYNTHASE, GLYCOPROTEIN-N-ACETYLGALACTOSAMINE 3-BETA-GALACTOSYLTRANSFERASE, 1; C1GALT1 CORE 1 BETA-3-GAL-T;; T SYNTHASE
Asterisk 610556 HIGHLY ACCELERATED REGION GENE 1A; HAR1A HAR1F
Asterisk 610557 HIGHLY ACCELERATED REGION GENE 1B; HAR1B HAR1R
Asterisk 610558 MITOGEN-ACTIVATED PROTEIN KINASE-ASSOCIATED PROTEIN 1; MAPKAP1 SAPK-INTERACTING PROTEIN 1; SIN1;; MEKK2-INTERACTING PROTEIN 1; MIP1;; JC310
Asterisk 610559 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 4; RASSF4 AD037
Asterisk 610560 PROTEASE, SERINE, 36; PRSS36 POLYSERASE 2;; POLYSERINE PROTEASE 2
Asterisk 610561 POLYSERASE 3 POL3S
Asterisk 610562 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12A; ZC3H12A MCP1-INDUCED PROTEIN; MCPIP;; MCPIP1;; REGNASE 1
Asterisk 610563 KARYOPHERIN ALPHA-6; KPNA6 IMPORTIN ALPHA-7
Asterisk 610564 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2; PDSS2 DECAPRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2;; D-LESS POLYPRENYL PYROPHOSPHATE SYNTHASE 1; DLP1;; CHROMOSOME 6 OPEN READING FRAME 210; C6ORF210
Asterisk 610565 DYNEIN, AXONEMAL, LIGHT CHAIN 4; DNAL4 DNALC4, MOUSE, HOMOLOG OF
Asterisk 610566 MICRO RNA 146A; MIR146A miRNA146A;; MIRN146A
Asterisk 610567 MICRO RNA 146B; MIR146B miRNA146B;; MIRN146B
Asterisk 610568 ZINC FINGER PROTEIN 687; ZNF687 KIAA1441 ZNF687/RUNX1 FUSION GENE, INCLUDED
Asterisk 610569 UBIQUITIN-SPECIFIC PROTEASE 24; USP24 KIAA1057
Asterisk 610570 UBIQUITIN-SPECIFIC PROTEASE 40; USP40
Asterisk 610571 FK506-BINDING PROTEIN 11; FKBP11 FK506-BINDING PROTEIN, 19-KD; FKBP19
Asterisk 610572 MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2 MARVD2;; TRICELLULIN; TRIC
Asterisk 610573 R-SPONDIN FAMILY, MEMBER 4; RSPO4 CRISTIN4
Asterisk 610574 R-SPONDIN FAMILY, MEMBER 3; RSPO3 PWTSR;; CRISTIN1
Asterisk 610575 R-SPONDIN FAMILY, MEMBER 2; RSPO2 CRISTIN2
Asterisk 610576 RHO GTPase-ACTIVATING PROTEIN 9; ARHGAP9
Asterisk 610577 RHO GTPase-ACTIVATING PROTEIN 12; ARHGAP12
Asterisk 610578 RHO GTPase-ACTIVATING PROTEIN 15; ARHGAP15 BM046
Asterisk 610579 RCSD DOMAIN-CONTAINING PROTEIN 1; RCSD1 CAPZ-INTERACTING PROTEIN; CAPZIP
Asterisk 610580 ONCOGENE PIM3; PIM3 SERINE/THREONINE PROTEIN KINASE PIM3
Asterisk 610581 COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-2, INTRONIC TRANSCRIPT 1; COPG2IT1 COPG2 INTRONIC TRANSCRIPT 1; CIT1
Number Sign 610582 DIABETES MELLITUS, TRANSIENT NEONATAL, 3 TNDM3 DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT, INCLUDED
Asterisk 610583 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 6; ANKRD6 KIAA0957;; DIVERSIN
Asterisk 610584 TRIPARTITE MOTIF-CONTAINING PROTEIN 67; TRIM67 TRIM9-LIKE; TNL
Asterisk 610585 RHO GTPase-ACTIVATING PROTEIN 22; ARHGAP22
Asterisk 610586 RHO GTPase-ACTIVATING PROTEIN 24; ARHGAP24 RAC1- AND CDC42-SPECIFIC GTPase-ACTIVATING PROTEIN, 72-KD; RCGAP72;; p73RHOGAP;; FILAMIN A-ASSOCIATED RHOGAP; FILGAP
Asterisk 610587 RHO GTPase-ACTIVATING PROTEIN 25; ARHGAP25 KIAA0053
Asterisk 610588 DENDRIN; DDN KIAA0749
Asterisk 610589 RHO GTPase-ACTIVATING PROTEIN 11A; ARHGAP11A KIAA0013
Asterisk 610590 RHO GTPase-ACTIVATING PROTEIN 23; ARHGAP23 KIAA1501
Asterisk 610591 RHO GTPase-ACTIVATING PROTEIN 27; ARHGAP27 CIN85-ASSOCIATED MULTIDOMAIN-CONTAINING RhoGAP1; CAMGAP1
Asterisk 610592 RHO GTPase-ACTIVATING PROTEIN 28; ARHGAP28 KIAA1314
Asterisk 610593 MAP6 DOMAIN-CONTAINING PROTEIN 1; MAP6D1 STOP-LIKE PROTEIN, 21-KD; SL21
Asterisk 610594 FOLLICULIN-INTERACTING PROTEIN 1; FNIP1 KIAA1961
Asterisk 610595 FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE, S. CEREVISIAE, HOMOLOG OF; FLAD1 FAD1, S. CEREVISIAE, HOMOLOG OF;; FAD SYNTHETASE; FADS;; FMN ADENYLYLTRANSFERASE
Asterisk 610596 BLOCK OF PROLIFERATION 1; BOP1 KIAA0124
Asterisk 610597 GLUTAMATE-RICH WD REPEAT-CONTAINING PROTEIN 1; GRWD1 GRWD;; KIAA1942
Asterisk 610598 PRCD, DOG, HOMOLOG OF; PRCD
Number Sign 610599 RETINITIS PIGMENTOSA 36; RP36
Number Sign 610600 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY CMO II DEFICIENCY;; ALDOSTERONE DEFICIENCY II;; HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1; FHHA1B;; ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE;; STEROID 18-OXIDASE DEFICIENCY;; 18-OXIDASE DEFICIENCY
Asterisk 610601 KALLIKREIN-RELATED PEPTIDASE 15; KLK15 KALLIKREIN 15;; ACO PROTEASE;; PROSTINOGEN PROSTIN, INCLUDED
Asterisk 610602 AlkB, E. COLI, HOMOLOG OF, 2; ALKBH2 ABH2
Asterisk 610603 AlkB, E. COLI, HOMOLOG OF, 3; ALKBH3 PROSTATE CANCER ANTIGEN 1; PCA1;; DEPC1;; ABH3
Asterisk 610604 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, PSEUDOGENE 1; KIR3DP1 CD158C;; KIRX;; KIR48;; KIR2DS6
Asterisk 610605 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 2; CPEB2
Asterisk 610606 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 3; CPEB3 KIAA0940 CPEB3 RIBOZYME, INCLUDED
Asterisk 610607 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 4; CPEB4 CPE-BINDING PROTEIN 4;; KIAA1673
Asterisk 610608 GINS COMPLEX SUBUNIT 1; GINS1 PSF1, S. CEREVISIAE, HOMOLOG OF; PSF1;; KIAA0186 GINS COMPLEX, INCLUDED
Asterisk 610609 GINS COMPLEX SUBUNIT 2; GINS2 PSF2, S. CEREVISIAE, HOMOLOG OF; PSF2
Asterisk 610610 GINS COMPLEX SUBUNIT 3; GINS3 PSF3, S. CEREVISIAE, HOMOLOG OF; PSF3
Asterisk 610611 GINS COMPLEX SUBUNIT 4; GINS4 SLD5, S. CEREVISIAE, HOMOLOG OF; SLD5
Number Sign 610612 LEBER CONGENITAL AMAUROSIS 12; LCA12
Asterisk 610613 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1; CYP11B1 STEROID 11-BETA-HYDROXYLASE;; P450C11
Asterisk 610614 TRANSFORMING GROWTH FACTOR-BETA REGULATOR 1; TBRG1 TGFB REGULATOR 1;; NUCLEAR INTERACTOR OF ARF AND MDM2; NIAM
Asterisk 610615 RAB-LIKE PROTEIN 6; RABL6 PARTNER OF ARF; PARF;; CHROMOSOME 9 OPEN READING FRAME 86; C9ORF86
Asterisk 610616 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 12; ANKRD12 ANKYRIN REPEAT-CONTAINING COFACTOR 2; ANCO2;; KIAA0874
Asterisk 610617 DENTICLELESS, DROSOPHILA, HOMOLOG OF; DTL RETINOIC ACID-REGULATED NUCLEAR MATRIX-ASSOCIATED PROTEIN; RAMP;; DDB1- AND CUL4-ASSOCIATED FACTOR 2; DCAF2;; CDT2, S. POMBE, HOMOLOG OF; CDT2;; L2DTL
Number Sign 610618 ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 HAE III;; ESTROGEN-RELATED HAE;; ESTROGEN-SENSITIVE HAE;; ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION;; HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION;; HEREDITARY ANGIOEDEMA WITH NORMAL C1 INHIBITOR ACTIVITY
Asterisk 610619 COAGULATION FACTOR XII; F12 HAGEMAN FACTOR
Asterisk 610620 ADP-RIBOSYLHYDROLASE-LIKE 1; ADPRHL1 ADP-RIBOSYLHYDROLASE 2; ARH2
Asterisk 610621 INTURNED, DROSOPHILA, HOMOLOG OF; INTU KIAA1284;; PDZ DOMAIN-CONTAINING 6; PDZK6
Asterisk 610622 FUZZY, DROSOPHILA, HOMOLOG OF; FUZ
Number Sign 610623 CATARACT 11, MULTIPLE TYPES; CTRCT11 CATARACT, POSTERIOR POLAR, 4; CTPP4;; CPP4 CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES, INCLUDED
Asterisk 610624 ADP-RIBOSYLHYDROLASE-LIKE 2; ADPRHL2 ADP-RIBOSYLHYDROLASE 3; ARH3
Asterisk 610625 ADP-RIBOSYLTRANSFERASE 5; ART5
Asterisk 610626 PHOSPHOLIPID PHOSPHATASE 5; PLPP5 PPAP2 DOMAIN-CONTAINING PROTEIN 1B; PPAPDC1B;; HTPAP
Asterisk 610627 ALPHA-2-MACROGLOBULIN-LIKE 1; A2ML1
Number Sign 610628 HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4
Number Sign 610629 DIAMOND-BLACKFAN ANEMIA 3; DBA3
Asterisk 610630 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 20A; PTPN20A PTPN20, CENTROMERIC COPY
Asterisk 610631 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 20B; PTPN20B PTPN20, TELOMERIC COPY
Asterisk 610632 MITOCHONDRIAL CALCIUM UPTAKE PROTEIN 2; MICU2 EF-HAND DOMAIN FAMILY, MEMBER A1; EFHA1
Asterisk 610633 MITOCHONDRIAL CALCIUM UPTAKE PROTEIN 3; MICU3 EF-HAND DOMAIN FAMILY, MEMBER A2; EFHA2
Caret 610634 MOVED TO 115650
Asterisk 610635 COLLAGEN TRIPLE-HELIX REPEAT-CONTAINING PROTEIN 1; CTHRC1
Asterisk 610636 MICRO RNA 27B; MIR27B miRNA27B;; MIRN27B
Asterisk 610637 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 5; MARCH5 MARCH V
Asterisk 610638 JUNCTIONAL ADHESION MOLECULE 4 JAM4
Asterisk 610639 GRID2-INTERACTING PROTEIN 1; GRID2IP1 DELPHILIN
Asterisk 610640 YTH N6-METHYLADENOSINE RNA-BINDING PROTEIN 2; YTHDF2 YTH DOMAIN FAMILY, MEMBER 2 YTHDF2/RUNX1 FUSION GENE, INCLUDED
Asterisk 610641 TERMINAL URIDYLYL TRANSFERASE 1, U6 snRNA-SPECIFIC; TUT1 U6-TUTase;; POLY(A) POLYMERASE-ASSOCIATED DOMAIN-CONTAINING PROTEIN 2; PAPD2;; PAP-ASSOCIATED DOMAIN-CONTAINING PROTEIN 2;; NUCLEAR SPECKLE-TARGETED PIPK1A-REGULATED POLY(A) POLYMERASE; STAR-PAP
Asterisk 610642 ENDOPLASMIC RETICULUM PROTEIN, 27-KD; ERP27 ERp27;; CHROMOSOME 12 OPEN READING FRAME 46; C12ORF46
Asterisk 610643 KIAA1524 GENE; KIAA1524 AUTOANTIGEN, 90-KD;; p90;; CANCEROUS INHIBITOR OF PP2A; CIP2A KIAA1524/MLL FUSION GENE, INCLUDED
Number Sign 610644 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, INCLUDED
Asterisk 610645 CALCIUM- AND INTEGRIN-BINDING PROTEIN 3; CIB3 KINASE-INTERACTING PROTEIN 3; KIP3
Asterisk 610646 CALCIUM- AND INTEGRIN-BINDING PROTEIN 4 CIB4;; KINASE-INTERACTING PROTEIN 4; KIP4
Asterisk 610647 N-ACETYLTRANSFERASE 8-LIKE; NAT8L NAT8-LIKE;; ASPARTATE N-ACETYLTRANSFERASE;; CAMELL0, XENOPUS, HOMOLOG OF, 3; CML3
Asterisk 610648 CUT-LIKE 2; CUTL2 CUT, DROSOPHILA, HOMOLOG OF, 2;; CDP2;; CUX2;; KIAA0293
Percent 610649 BONE SIZE QUANTITATIVE TRAIT LOCUS 3 BSZQTL3
Asterisk 610650 ADHESION-REGULATING MOLECULE 1; ADRM1 ARM1;; RPN13, S. CEREVISIAE, HOMOLOG OF; RPN13
Number Sign 610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB XP, GROUP B; XPBC XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME, INCLUDED;; XPB/CS, INCLUDED
Asterisk 610652 PHOSPHODIESTERASE 10A; PDE10A
Asterisk 610653 RIBOSOMAL RNA-PROCESSING 1, S. CEREVISIAE, HOMOLOG OF; RRP1 NUCLEOLAR PROTEIN, 52-KD; NOP52;; NOVEL NUCLEAR PROTEIN 1; NNP1
Asterisk 610654 RIBOSOMAL RNA-PROCESSING PROTEIN 1, S. CEREVISIAE, HOMOLOG OF, B; RRP1B KIAA0179 GENE; KIAA0179;; NNP1-LIKE; NNP1L
Percent 610655 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4
Asterisk 610656 CYSTEINE CONJUGATE BETA-LYASE 2; CCBL2 KYNURENINE AMINOTRANSFERASE III; KAT3
Asterisk 610657 WASH COMPLEX, SUBUNIT 5; WASHC5 KIAA0196 GENE; KIAA0196;; STRUMPELLIN
Asterisk 610658 TRIPARTITE MOTIF-CONTAINING PROTEIN 29; TRIM29 ATAXIA-TELANGIECTASIA GROUP D-ASSOCIATED PROTEIN; ATDC
Asterisk 610659 GLUTAMATE RECEPTOR, IONOTROPIC, DELTA 1; GRID1 KIAA1220
Asterisk 610660 GLYOXYLATE REDUCTASE 1 HOMOLOG; GLYR1 NUCLEAR PROTEIN, 60-KD; NP60;; CYTOKINE-LIKE NUCLEAR FACTOR N-PAC
Asterisk 610661 N-GLYCANASE 1; NGLY1 PEPTIDE-N-GLYCANASE 1, S. CEREVISIAE, HOMOLOG OF; PNG1
Asterisk 610662 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Y PROTEIN; PIGY PIGY UPSTREAM READING FRAME, INCLUDED; PYURF, INCLUDED;; PreY, INCLUDED
Asterisk 610663 SET AND MYND DOMAIN-CONTAINING PROTEIN 2; SMYD2
Asterisk 610664 BREAST CANCER-OVEREXPRESSED GENE 1 BCOX1;; KIAA0100
Asterisk 610665 Fc FRAGMENT OF IgG, LOW AFFINITY IIIb, RECEPTOR FOR; FCGR3B IMMUNOGLOBULIN G Fc RECEPTOR III-1;; FCRIII-1;; CD16B NEUTROPHIL ANTIGEN NA, INCLUDED;; NEUTROPHIL-SPECIFIC ANTIGEN NA1, INCLUDED;; NEUTROPHIL-SPECIFIC ANTIGEN NA2, INCLUDED;; NEUTROPHIL-SPECIFIC ANTIGEN NC1, INCLUDED
Asterisk 610666 NEURENSIN 2; NRSN2
Asterisk 610667 UBIQUITIN CARBOXYL-TERMINAL HYDROLASE L5; UCHL5 UCH37
Asterisk 610668 INSCUTEABLE, DROSOPHILA, HOMOLOG OF; INSC
Asterisk 610669 TNFAIP3-INTERACTING PROTEIN 2; TNIP2 A20-BINDING INHIBITOR OF NFKB 2; ABIN2;; FLIP1
Asterisk 610670 CYTOCHROME P450, FAMILY 2, SUBFAMILY U, POLYPEPTIDE 1; CYP2U1
Asterisk 610671 ZINC FINGER PROTEIN 628; ZNF628 ZEC
Asterisk 610672 NUCLEUS ACCUMBENS-ASSOCIATED PROTEIN 1, BEN AND BTB/POZ DOMAINS-CONTAINING; NACC1 NAC1;; BTB/POZ DOMAIN-CONTAINING PROTEIN 14B; BTBD14B
Asterisk 610673 CHROMOSOME 9 OPEN READING FRAME 90; C9ORF90 NUCLEAR APOPTOSIS-INDUCING FACTOR 1; NAIF1
Asterisk 610674 SPERM FLAGELLAR PROTEIN 1; SPEF1 CHROMOSOME 20 OPEN READING FRAME 28; C20ORF28;; CALPONIN-HOMOLOGY AND MICROTUBULE-ASSOCIATED PROTEIN; CLAMP
Asterisk 610675 UNCONVENTIONAL SNARE IN THE ER 1, S. CEREVISIAE, HOMOLOG OF; USE1 HEMATOPOIETIC STEM/PROGENITOR CELL PROTEIN MDS032; MDS032;; p31
Percent 610676 AUTISM, SUSCEPTIBILITY TO, 7; AUTS7
Asterisk 610677 LSM14A PROTEIN; LSM14A RNA-ASSOCIATED PROTEIN 55; RAP55
Number Sign 610678 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4
Asterisk 610679 CYCLIN-DEPENDENT KINASE 14; CDK14 PFTAIRE PROTEIN KINASE 1; PFTK1;; PFTAIRE1;; KIAA0834
NULL 610680 HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS
Asterisk 610681 PHOSPHOFRUCTOKINASE, MUSCLE TYPE; PFKM PFK1;; PFK, MUSCLE TYPE
Number Sign 610682 OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 OI, TYPE VII;; OSTEOGENESIS IMPERFECTA, TYPE IIB, FORMERLY; OI2B, FORMERLY
Asterisk 610683 BBS12 GENE; BBS12 FLJ35630;; C4ORF24
Asterisk 610684 C-TERMINAL DOMAIN NUCLEAR ENVELOPE PHOSPHATASE 1; CTDNEP1 CTD NUCLEAR ENVELOPE PHOSPHATASE 1;; DULLARD, XENOPUS, HOMOLOG OF; DULLARD;; NEM1, S. CEREVISIAE, HOMOLOG OF
Percent 610685 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2; SHFLD2
Asterisk 610686 UBX DOMAIN PROTEIN 2B; UBXN2B LOC137886 GENE;; p37
Number Sign 610687 NEMALINE MYOPATHY 7; NEM7
Number Sign 610688 JOUBERT SYNDROME 6; JBTS6
Asterisk 610689 DIPLA1, ANTISENSE DIPAS
Asterisk 610690 3-HYDROXYISOBUTYRYL-CoA HYDROLASE; HIBCH BETA-HYDROXYISOBUTYRYL-COENZYME A HYDROLASE;; HIBYL-CoA-H
Asterisk 610691 PRUNE, DROSOPHILA, HOMOLOG OF, 2; PRUNE2 BCH MOTIF-CONTAINING MOLECULE AT THE C-TERMINAL REGION 1; BMCC1;; KIAA0367
Asterisk 610692 HEAT-SHOCK 27-KD PROTEIN 7; HSPB7 CARDIOVASCULAR HEAT-SHOCK PROTEIN; CVHSP
Asterisk 610693 HYLS1 GENE; HYLS1 FLJ32915
Asterisk 610694 PYROGLUTAMYL PEPTIDASE I; PGPEP1 PGP; PGP I;; PYRROLIDONE-CARBOXYLATE PEPTIDASE; PCP;; 5-OXOPROLYL PEPTIDASE
Asterisk 610695 HEAT-SHOCK 27-KD PROTEIN 6; HSPB6 HEAT-SHOCK PROTEIN, 20-KD; HSP20
Asterisk 610696 PCNA-ASSOCIATED FACTOR, 15-KD PAF;; p15(PAF);; OVEREXPRESSED IN ANAPLASTIC THYROID CARCINOMA 1; OEATC1;; KIAA0101
Asterisk 610697 PDZ DOMAIN-CONTAINING 2; PDZD2 PLAKOPHILIN-RELATED ARMADILLO REPEAT PROTEIN-INTERACTING PDZ PROTEIN; PAPIN;; PIN1;; ACTIVATED IN PROSTATE CANCER; AIPC;; KIAA0300
Number Sign 610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4
Asterisk 610699 ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 2A; ZFAND2A AN1-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 2A;; ARSENITE-INDUCIBLE RNA-ASSOCIATED PROTEIN; AIRAP
Asterisk 610700 HTRA SERINE PEPTIDASE 4; HTRA4
Asterisk 610701 HEAT-SHOCK 70-KD PROTEIN 12A; HSPA12A KIAA0417
Asterisk 610702 HEAT-SHOCK 70-KD PROTEIN 12B; HSPA12B
Asterisk 610703 HEAT-SHOCK 105/110-KD PROTEIN 1; HSPH1 HEAT-SHOCK PROTEIN, 105-KD; HSP105;; HEAT-SHOCK PROTEIN, 110-KD; HSP110;; KIAA0201
Asterisk 610704 PROHIBITIN 2; PHB2 REPRESSOR OF ESTROGEN RECEPTOR ACTIVITY; REA
Asterisk 610705 CD300 ANTIGEN-LIKE FAMILY, MEMBER B; CD300LB CD300B;; CLM7;; TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 5; TREM5;; IMMUNE RECEPTOR EXPRESSED BY MYELOID CELLS 3; IREM3;; LEUKOCYTE MONOIMMUNOGLOBULIN-LIKE RECEPTOR 5; LMIR5
Number Sign 610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA DEAFNESS, CONGENITAL, WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA;; DEAFNESS WITH LAMM
Percent 610707 PSORIASIS 8, SUSCEPTIBILITY TO; PSORS8
Number Sign 610708 OPTIC ATROPHY 5; OPA5
Asterisk 610709 TESTIS-SPECIFIC SERINE/THREONINE KINASE 1; TSSK1 STK22A, MOUSE, HOMOLOG OF;; SERINE/THREONINE PROTEIN KINASE 22D; STK22D
Asterisk 610710 TESTIS-SPECIFIC SERINE/THREONINE KINASE 2; TSSK2 SERINE/THREONINE PROTEIN KINASE 22B; STK22B
Asterisk 610711 TESTIS-SPECIFIC SERINE/THREONINE KINASE 4; TSSK4 TSSK5
Asterisk 610712 TESTIS-SPECIFIC SERINE/THREONINE KINASE 6; TSSK6 SMALL SERINE/THREONINE PROTEIN KINASE; SSTK;; TSSK4
Number Sign 610713 BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME, INCLUDED; BDSDO, INCLUDED
Asterisk 610714 PROTEIN KINASE N3; PKN3 PKN-BETA
Asterisk 610715 HEMOGEN; HEMGN ERYTHROID DIFFERENTIATION-ASSOCIATED GENE; EDAG
Asterisk 610716 TIMELESS-INTERACTING PROTEIN; TIPIN
Number Sign 610717 NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM NEUTRAL LIPID STORAGE DISEASE WITHOUT ICHTHYOSIS
Asterisk 610718 MICRO RNA 195; MIR195 miRNA195;; MIRN195
Asterisk 610719 MICRO RNA 199A1; MIR199A1 miRNA199A1;; MIRN199A1
Asterisk 610720 MICRO RNA 199A2; MIR199A2 miRNA199A2;; MIRN199A2
Asterisk 610721 MICRO RNA 214; MIR214 miRNA214;; MIRN214
Caret 610722 MOVED TO 607962
Asterisk 610723 MICRO RNA 23B; MIR23B miRNA23B;; MIRN23B
Asterisk 610724 MICRO RNA 24-2; MIR24-2 miRNA24-2;; MIRN24-2
Number Sign 610725 NEPHROTIC SYNDROME, TYPE 3; NPHS3 NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3
Asterisk 610726 TRUB PSEUDOURIDINE SYNTHASE, E. COLI, HOMOLOG OF, 1; TRUB1 PUS4
Asterisk 610727 TRUB PSEUDOURIDINE SYNTHASE, E. COLI, HOMOLOG OF, 2; TRUB2
Asterisk 610728 SPHINGOMYELIN PHOSPHODIESTERASE, ACID-LIKE, 3A; SMPDL3A ACID SPHINGOMYELINASE-LIKE PHOSPHODIESTERASE 3A; ASML3A
Asterisk 610729 WD REPEAT-CONTAINING PROTEIN 92; WDR92 LOC116143;; MONAD PROTEIN
Asterisk 610730 CHAPERONIN-CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 6B; CCT6B CHAPERONIN-CONTAINING TCP1, SUBUNIT 6B;; CCT-ZETA 2; CCTZ2
Asterisk 610731 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 7; ANKRD7
Asterisk 610732 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 12; TTC12 TPARM
Number Sign 610733 NOONAN SYNDROME 4; NS4
Asterisk 610734 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 2; ANKRD2 ANKYRIN REPEAT PROTEIN WITH PEST MOTIF AND PROLINE-RICH REGION; ARPP
Asterisk 610735 MYOZENIN 3; MYOZ3 CALSARCIN 3;; FATZ-RELATED PROTEIN 3; FRP3
Asterisk 610736 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 23; ANKRD23 DIABETES-RELATED ANKYRIN REPEAT PROTEIN; DARP
Asterisk 610737 KINASE SUPPRESSOR OF RAS 2; KSR2
Number Sign 610738 NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 KOSTMANN DISEASE;; AGRANULOCYTOSIS, INFANTILE
Asterisk 610739 TRINUCLEOTIDE REPEAT-CONTAINING GENE 6A; TNRC6A GLYCINE/TRYPTOPHAN REPEAT PROTEIN, 182-KD; GW182;; KIAA1460
Asterisk 610740 TRINUCLEOTIDE REPEAT-CONTAINING GENE 6B; TNRC6B KIAA1093
Asterisk 610741 TRINUCLEOTIDE REPEAT-CONTAINING GENE 6C; TNRC6C KIAA1582
Asterisk 610742 MOLONEY LEUKEMIA VIRUS 10, MOUSE, HOMOLOG OF; MOV10 KIAA1631
Number Sign 610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8 ATAXIA, RECESSIVE, OF BEAUCE;; CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, TYPE 1; ARCA1
Percent 610744 IRIS PATTERN
Asterisk 610745 STIMULATED BY RETINOIC ACID 6; STRA6
Asterisk 610746 DOLICHOL KINASE; DOLK DOLICHOL KINASE 1; DK1;; SEC59, YEAST, HOMOLOG OF; SEC59;; KIAA1094;; TRANSMEMBRANE PROTEIN 15, FORMERLY; TMEM15, FORMERLY
Asterisk 610747 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 4A; SAMD4A SMAUG, DROSOPHILA, HOMOLOG OF, 1; SMAUG1;; KIAA1053
Asterisk 610748 UBIQUITIN-SPECIFIC PROTEASE 28; USP28 KIAA1515
Asterisk 610749 KELCH-LIKE 31; KLHL31 KLHL
Asterisk 610750 ZINC FINGER CCHC DOMAIN- AND RNA-BINDING MOTIF-CONTAINING PROTEIN 1; ZCRB1 MADP1;; U11/U12 snRNP, 31-KD SUBUNIT
Asterisk 610751 PHOSPHORIBOSYL TRANSFERASE DOMAIN-CONTAINING PROTEIN 1; PRTFDC1
Asterisk 610752 URONYL 2-SULFOTRANSFERASE; UST URONOSYL 2-O-SULFOTRANSFERASE; 2OST
Percent 610753 ALOPECIA AREATA 2; AA2
Asterisk 610754 WINGS APART-LIKE PROTEIN, DROSOPHILA, HOMOLOG OF; WAPL KIAA0261;; WAPAL;; FRIEND OF EBNA2; FOE
Number Sign 610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4
Number Sign 610756 CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2
Asterisk 610757 CHEMOKINE, CC MOTIF, LIGAND 4-LIKE 2; CCL4L2
Number Sign 610758 CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4
Number Sign 610759 CORNELIA DE LANGE SYNDROME 3; CDLS3
Percent 610760 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2 CLQTL2
Percent 610761 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5 HDLCQ5
Number Sign 610762 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6; HDLCQ6
Asterisk 610763 N-ACETYLNEURAMINIC ACID PHOSPHATASE; NANP Neu5Ac-9-PHOSPHATE PHOSPHATASE HALOACID DEHALOGENASE-LIKE HYDROLASE DOMAIN-CONTAINING PROTEIN-4; HDHD4
Asterisk 610764 BENZODIAZAPINE RECEPTOR (PERIPHERAL)-ASSOCIATED PROTEIN 1; BZRAP1 PERIPHERAL BENZODIAZAPINE RECEPTOR-ASSOCIATED PROTEIN 1; PRAX1;; RIMS-BINDING PROTEIN 1; RIMBP1;; KIAA0612
Caret 610765 MOVED TO 602400
Asterisk 610766 MEIOSIS-SPECIFIC NUCLEAR STRUCTURAL PROTEIN 1; MNS1 FLJ11222
Asterisk 610767 AUTOPHAGY 16-LIKE 1; ATG16L1 APG16-LIKE; APG16L
Number Sign 610768 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M CDG Im; CDGIm;; DOLICHOL KINASE DEFICIENCY;; DK1 DEFICIENCY
Asterisk 610769 NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 3, S. CEREVISIAE, HOMOLOG OF; NOC3L FACTOR FOR ADIPOCYTE DIFFERENTIATION 24; FAD24
Asterisk 610770 NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 2, S. CEREVISIAE, HOMOLOG OF; NOC2L NOVEL INHAT REPRESSOR; NIR
Asterisk 610771 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 5; CHD5
Asterisk 610772 NK6 HOMEOBOX 3; NKX6-3 NK6, DROSOPHILA, HOMOLOG OF, 3;; NKX6.3
Number Sign 610773 MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY MPCD
Asterisk 610774 CANOPY FGF SIGNALING REGULATOR 3; CNPY3 CANOPY 3, ZEBRAFISH, HOMOLOG OF;; TRINUCLEOTIDE REPEAT-CONTAINING GENE 5; TNRC5;; PROTEIN ASSOCIATED WITH TOLL-LIKE RECEPTOR 4, A; PRAT4A;; PROTEIN ASSOCIATED WITH TLR4, A;; EXPANDED REPEAT DOMAIN, CAG/CTG, 5; ERDA5
Asterisk 610775 TP53-INDUCED GLYCOLYSIS AND APOPTOSIS REGULATOR TIGAR;; CHROMOSOME 12 OPEN READING FRAME 5; C12ORF5
Asterisk 610776 DAMAGE-REGULATED AUTOPHAGY MODULATOR 1; DRAM1 DRAM
Asterisk 610777 NEUROGUIDIN; NGDN NGD
Asterisk 610778 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-1-LIKE; GNB1L WD REPEAT-CONTAINING PROTEIN 14; WDR14
Asterisk 610779 NUCLEOTIDE-BINDING PROTEIN 2; NUBP2 CYTOSOLIC Fe-S CLUSTER DEFICIENT 1, S. CEREVISIAE, HOMOLOG OF; CFD1
Asterisk 610780 LARGE SUBUNIT GTPase 1, S. CEREVISIAE, HOMOLOG OF; LSG1
Asterisk 610781 GUANOSINE MONOPHOSPHATE REDUCTASE 2; GMPR2 GMP REDUCTASE 2
Asterisk 610782 MICRO RNA 29A; MIR29A miRNA29A;; MIRN29A
Asterisk 610783 MICRO RNA 29B1; MIR29B1 miRNA29B1;; MIRN29B1
Asterisk 610784 MICRO RNA 29C; MIR29C miRNA29C;; MIRN29C
Asterisk 610785 PDLIM1-INTERACTING KINASE 1-LIKE; PDIK1L
Asterisk 610786 SRC KINASE SIGNALING INHIBITOR 1; SRCIN1 SNAP25-INTERACTING PROTEIN; SNIP;; KIAA1684
Asterisk 610787 HOXB CLUSTER ANTISENSE RNA 5; HOXBAS5 PROSTATE, RECTUM, AND COLON GENE 2; PRAC2
Asterisk 610788 SOLUTE CARRIER FAMILY 35 (3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE TRANSPORTER), MEMBER B2; SLC35B2 3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE TRANSPORTER 1; PAPST1;; PAPS TRANSPORTER 1;; SLALOM, DROSOPHILA, HOMOLOG OF; SLL
Asterisk 610789 p53 AND DNA DAMAGE-REGULATED 1; PDRG1 PDRG;; C20ORF126
Asterisk 610790 SOLUTE CARRIER FAMILY 35, MEMBER B1; SLC35B1 UDP-GALACTOSE TRANSPORTER-RELATED 1; UGTREL1
Asterisk 610791 SOLUTE CARRIER FAMILY 43 (L-TYPE AMINO ACID TRANSPORTER), MEMBER 2; SLC43A2 L-TYPE AMINO ACID TRANSPORTER 4; LAT4
Asterisk 610792 SOLUTE CARRIER FAMILY 22, MEMBER 25; SLC22A25 ORGANIC ANION TRANSPORTER UST6; UST6
Asterisk 610793 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, KIDNEY), MEMBER 30; SLC25A30 KIDNEY MITOCHONDRIAL CARRIER PROTEIN 1; KMCP1
Asterisk 610794 ZINC FINGER PROTEIN 323; ZNF323
Asterisk 610795 SORBIN AND SH3 DOMAINS-CONTAINING PROTEIN 3; SORBS3 SH3 DOMAIN-CONTAINING ADAPTOR MOLECULE 1; SCAM1;; SH3D4 VINEXIN-ALPHA, INCLUDED;; VINEXIN-BETA, INCLUDED
Asterisk 610796 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 31; SLC25A31 ADENINE NUCLEOTIDE TRANSLOCATOR 4; ANT4;; ADP/ATP CARRIER 4; AAC4
NULL 610797 EPIPHYSEAL DYSPLASIA, BAUMANN TYPE
Number Sign 610798 IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN
Number Sign 610799 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1 INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST, INCLUDED
Asterisk 610800 AUTOPHAGY 10, S. CEREVISIAE, HOMOLOG OF; ATG10 APG10, S. CEREVISIAE, HOMOLOG OF; APG10
Asterisk 610801 SOLUTE CARRIER FAMILY 41, MEMBER 1; SLC41A1
Asterisk 610802 SOLUTE CARRIER FAMILY 41, MEMBER 2; SLC41A2
Asterisk 610803 SOLUTE CARRIER FAMILY 41, MEMBER 3; SLC41A3
Asterisk 610804 SOLUTE CARRIER FAMILY 35 (UDP-GLUCURONIC ACID/UDP-N-ACETYLGALACTOSAMINE DUAL TRANSPORTER), MEMBER D1; SLC35D1 UDP-GALACTOSE TRANSPORTER-RELATED 7; UGTREL7;; KIAA0260
Number Sign 610805 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1 RENAL HYPODYSPLASIA, NONSYNDROMIC, 1; RHDNS1
Asterisk 610806 TBC1 DOMAIN FAMILY, MEMBER 3C; TBC1D3C
Asterisk 610807 TBC1 DOMAIN FAMILY, MEMBER 3D; TBC1D3D
Asterisk 610808 TBC1 DOMAIN FAMILY, MEMBER 3E; TBC1D3E
Asterisk 610809 TBC1 DOMAIN FAMILY, MEMBER 3F; TBC1D3F
Asterisk 610810 TBC1 DOMAIN FAMILY, MEMBER 3G; TBC1D3G
Asterisk 610811 TBC1 DOMAIN FAMILY, MEMBER 3H; TBC1D3H
Asterisk 610812 HYDROCEPHALUS-INDUCING, MOUSE, HOMOLOG OF; HYDIN HYDIN1
Asterisk 610813 HYDROCEPHALUS-INDUCING, MOUSE, HOMOLOG OF, 2; HYDIN2 HYDIN, MOUSE, HOMOLOG OF, 2;; KIAA1864
Caret 610814 MOVED TO 601186
Asterisk 610815 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, FOLATE), MEMBER 32; SLC25A32 MITOCHONDRIAL FOLATE TRANSPORTER; MFT
Asterisk 610816 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PYRIMIDINE NUCLEOTIDE TRANSPORTER), MEMBER 33; SLC25A33 BONE MARROW STROMAL CELL MITOCHONDRIAL CARRIER PROTEIN; BMSCMCP;; PYRIMIDINE NUCLEOTIDE CARRIER 1; PNC1
Asterisk 610817 SOLUTE CARRIER FAMILY 25, MEMBER 34; SLC25A34
Asterisk 610818 SOLUTE CARRIER FAMILY 25, MEMBER 35; SLC25A35
Asterisk 610819 SOLUTE CARRIER FAMILY 25, MEMBER 38; SLC25A38
Asterisk 610820 SOLUTE CARRIER FAMILY 25, MEMBER 39; SLC25A39 CGI69
Asterisk 610821 SOLUTE CARRIER FAMILY 25, MEMBER 40; SLC25A40
Asterisk 610822 SOLUTE CARRIER FAMILY 25, MEMBER 41; SLC25A41
Asterisk 610823 SOLUTE CARRIER FAMILY 25, MEMBER 42; SLC25A42
Asterisk 610824 SOLUTE CARRIER FAMILY 25, MEMBER 44; SLC25A44
Asterisk 610825 SOLUTE CARRIER FAMILY 25, MEMBER 45; SLC25A45
Asterisk 610826 SOLUTE CARRIER FAMILY 25, MEMBER 46; SLC25A46
Asterisk 610827 ZINC FINGER PROTEIN 335; ZNF335 NRC-INTERACTING FACTOR; NIF1 NIF2, INCLUDED
Number Sign 610828 HOLOPROSENCEPHALY 7; HPE7
Number Sign 610829 HOLOPROSENCEPHALY 9; HPE9 PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES;; HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES
NULL 610830 POLYOSTEOLYSIS-HYPEROSTOSIS SYNDROME
Asterisk 610831 TBC1 DOMAIN FAMILY, MEMBER 10C; TBC1D10C CARABIN
Number Sign 610832 FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN
Asterisk 610833 N-ACETYLTRANSFERASE 5; NAT5 NAT3, S. CEREVISIAE, HOMOLOG OF
Asterisk 610834 N-ACETYLTRANSFERASE 13; NAT13 NAT5, S. CEREVISIAE, HOMOLOG OF;; SAN, DROSOPHILA, HOMOLOG OF
Asterisk 610835 NMDA RECEPTOR-REGULATED 2; NARG2
Percent 610836 AUTISM, SUSCEPTIBILITY TO, 11; AUTS11
Asterisk 610837 BCL2-LIKE 12; BCL2L12
Percent 610838 AUTISM, SUSCEPTIBILITY TO, 12; AUTS12
Percent 610839 OSTEOARTHRITIS SUSCEPTIBILITY 4; OS4 OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA; GOA1
Percent 610840 MITRAL VALVE PROLAPSE 3; MVP3 MITRAL VALVE PROLAPSE, MYXOMATOUS 3; MMVP3;; MYXOMATOUS MITRAL VALVE PROLAPSE 3
Asterisk 610841 STROMAL INTERACTION MOLECULE 2; STIM2 KIAA1482
Number Sign 610842 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
Asterisk 610843 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX, 7.2-KD SUBUNIT UCRC;; CYTOCHROME C1-ASSOCIATED PROTEIN
Asterisk 610844 SPG11 GENE; SPG11 SPATACSIN;; KIAA1840;; FLJ21439
Asterisk 610845 SOLUTE CARRIER FAMILY 35 (3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE TRANSPORTER), MEMBER B3; SLC35B3 3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE TRANSPORTER; PAPST2;; PAPS TRANSPORTER 2
Asterisk 610846 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 10; LRRC10 HEART-RESTRICTED LEUCINE-RICH REPEAT PROTEIN; HRLRRP
Asterisk 610847 ZINC FINGER PROTEIN 322A; ZNF322A ZINC FINGER PROTEIN 489; ZNF489;; ZNF322
Asterisk 610848 RAB15 EFFECTOR PROTEIN; REP15
Asterisk 610849 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 6; TTLL6
Asterisk 610850 XPA-BINDING PROTEIN 2; XAB2
Asterisk 610851 CHROMOSOME 4 OPEN READING FRAME 16; C4ORF16 GAMMA-1 ADAPTIN BREFELDIN-A RESISTANCE PROTEIN; GBAR;; 2C18
Number Sign 610852 CILIARY DYSKINESIA, PRIMARY, 6; CILD6
Asterisk 610853 AT HOOK-CONTAINING TRANSCRIPTION FACTOR 1; AHCTF1 EMBRYONIC LARGE MOLECULE DERIVED FROM YOLK SAC; ELYS
Caret 610854 MOVED TO 610682
Asterisk 610855 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 26; ANKRD26 KIAA1074
Asterisk 610856 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 30A; ANKRD30A BREAST CANCER ANTIGEN NY-BR-1
Asterisk 610857 SMALL BREAST EPITHELIAL MUCIN SBEM
Asterisk 610858 RNA TRANSCRIPTION, TRANSLATION, AND TRANSPORT FACTOR; RTRAF CHROMOSOME 14 OPEN READING FRAME 166; C14ORF166;; CGI99;; CLE
Asterisk 610859 RGD-, LEUCINE-RICH REPEAT-, TROPOMODULIN DOMAIN-, AND PROLINE-RICH DOMAIN-CONTAINING PROTEIN RLTPR
Asterisk 610860 AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE; AGL GLYCOGEN DEBRANCHER ENZYME; GDE
Asterisk 610861 SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 3; SYNE3 NUCLEAR ENVELOPE SPECTRIN REPEAT PROTEIN 3; NESP3;; NESPRIN 3;; CHROMOSOME 14 OPEN READING FRAME 49; C14ORF49
Asterisk 610862 DELTA(4)-DESATURASE, SPHINGOLIPID, 2; DEGS2 DEGENERATIVE SPERMATOCYTE, DROSOPHILA, HOMOLOG OF, 2;; DES2, MOUSE, HOMOLOG OF;; SPHINGOLIPID DELTA-4-DESATURASE/C4-HYDROXYLASE
Asterisk 610863 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-4; GNB4 G PROTEIN, BETA-4 SUBUNIT; G BETA-4
Asterisk 610864 LQK1 PROTEIN LQK1
Asterisk 610865 FELINE LEUKEMIA VIRUS SUBGROUP C RECEPTOR 2; FLVCR2 FLVCR-LIKE ON CHROMOSOME 14q; FLVCRL14q;; CALCIUM CHELATE TRANSPORTER; CCT;; CHROMOSOME 14 OPEN READING FRAME 58; C14ORF58
Asterisk 610866 URIDINE/CYTIDINE KINASE-LIKE 1; UCKL1 URKL1;; UCK1-LIKE; UCK1L
Asterisk 610867 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 1: LRRTM1
Asterisk 610868 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 2; LRRTM2 KIAA0416
Asterisk 610869 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 3; LRRTM3
Asterisk 610870 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 4; LRRTM4
NULL 610871 SAKODA COMPLEX SPHENOETHMOIDAL ENCEPHALOMENINGOCELE, AGENESIS OF THE CORPUS CALLOSUM, AND CLEFT LIP/PALATE SAKODA SPECTRUM, INCLUDED
Asterisk 610872 IBR DOMAIN-CONTAINING PROTEIN 3; IBRDC3 NATURAL KILLER LYTIC-ASSOCIATED MOLECULE; NKLAM
Percent 610873 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENAQ1
Asterisk 610874 SPERMATOGENESIS AND CENTRIOLE-ASSOCIATED 1; SPATC1 SPERIOLIN
Asterisk 610875 SAPS DOMAIN FAMILY, MEMBER 1; SAPS1 PROTEIN PHOSPHATASE 6, REGULATORY SUBUNIT 1; PP6R1;; KIAA1115
Asterisk 610876 HECT DOMAIN- AND ANKYRIN REPEAT-CONTAINING E3 UBIQUITIN PROTEIN LIGASE 1; HACE1 KIAA1320
Asterisk 610877 SAPS DOMAIN FAMILY, MEMBER 2; SAPS2 PROTEIN PHOSPHATASE 6, REGULATORY SUBUNIT 2; PP6R2;; KIAA0685
Number Sign 610878 VESICOURETERAL REFLUX 2; VUR2
Asterisk 610879 SAPS DOMAIN FAMILY, MEMBER 3; SAPS3 PROTEIN PHOSPHATASE 6, REGULATORY SUBUNIT 3; PP6R3;; CHROMOSOME 11 OPEN READING FRAME 23; C11ORF23;; KIAA1558
Asterisk 610880 CHROMOSOME 11 OPEN READING FRAME 24; C11ORF24
Asterisk 610881 LYSINE-SPECIFIC METHYLTRANSFERASE 5B; KMT5B SUPPRESSOR OF VARIEGATION 4-20, DROSOPHILA, HOMOLOG OF, 1; SUV420H1;; SU(VAR)4-20, DROSOPHILA, HOMOLOG OF, 1;; CGI85
Asterisk 610882 SJOGREN SYNDROME NUCLEAR AUTOANTIGEN 1; SSNA1 NUCLEAR AUTOANTIGEN, 14-KD; NA14
Number Sign 610883 POTOCKI-LUPSKI SYNDROME; PTLS CHROMOSOME 17p11.2 DUPLICATION SYNDROME
Asterisk 610884 CHROMOSOME 19 OPEN READING FRAME 40; C19ORF40 FANCONI ANEMIA-ASSOCIATED PROTEIN, 24-KD; FAAP24
Asterisk 610885 ESSENTIAL MEIOTIC ENDONUCLEASE 1, S. POMBE, HOMOLOG OF, 1; EME1 EME1, S. POMBE, HOMOLOG OF, 1
Asterisk 610886 ESSENTIAL MEIOTIC ENDONUCLEASE 1, S. POMBE, HOMOLOG OF, 2; EME2 EME1, S. POMBE, HOMOLOG OF, 2
Asterisk 610887 POLYMERASE, DNA, NU; POLN DNA POLYMERASE N;; POL4P
Asterisk 610888 GASTRIC CANCER-RELATED GENE 224 GCRG224
Asterisk 610889 IMPORTIN 11; IPO11 RAN-BINDING PROTEIN 11; RANBP11 SYNLEURIN, INCLUDED; SLRN, INCLUDED
Asterisk 610890 REGULATOR OF G PROTEIN SIGNALING 7-BINDING PROTEIN; RGS7BP R7-BINDING PROTEIN; R7BP
Asterisk 610891 FAMILY WITH SEQUENCE SIMILARITY 102, MEMBER A; FAM102A EARLY ESTROGEN-INDUCED GENE 1; EEIG1
Asterisk 610892 SYNAPTOTAGMIN 14-LIKE PROTEIN; SYT14L SYTDEP;; CHR415SYT
Asterisk 610893 CHMP FAMILY, MEMBER 2A; CHMP2A CHROMATIN-MODIFYING PROTEIN 2A;; CHARGED MULTIVESICULAR BODY PROTEIN 2A;; VACUOLAR PROTEIN SORTING 2, YEAST, HOMOLOG OF, A; VPS2A;; VPS2;; BC2
Asterisk 610894 NEUREGULIN 4; NRG4 HEREGULIN 4; HRG4
Asterisk 610895 WAP, FOLLISTATIN, IMMUNOGLOBULIN, KUNITZ, AND NTR DOMAINS-CONTAINING PROTEIN 2; WFIKKN2 WFIKKN RELATED-PROTEIN; WFIKKNRP;; GDF-ASSOCIATED SERUM PROTEIN 1; GASP1
Number Sign 610896 BRANCHIOOTORENAL SYNDROME 2; BOR2
Asterisk 610897 CHMP FAMILY, MEMBER 4B; CHMP4B CHROMATIN-MODIFYING PROTEIN 4B;; CHARGED MULTIVESICULAR BODY PROTEIN 4B;; SNF7, YEAST, HOMOLOG OF, 2;; SNF7-2
Percent 610898 SUPRANUCLEAR PALSY, PROGRESSIVE, 3; PSNP3
Asterisk 610899 CHMP FAMILY, MEMBER 4C; CHMP4C CHROMATIN-MODIFYING PROTEIN 4C;; CHARGED MULTIVESICULAR BODY PROTEIN 4C;; SNF7, YEAST, HOMOLOG OF, 3;; SNF7-3
Asterisk 610900 CHMP FAMILY, MEMBER 5; CHMP5 CHROMATIN-MODIFYING PROTEIN 5;; CHARGED MULTIVESICULAR BODY PROTEIN 5;; HSPC177
Asterisk 610901 CHMP FAMILY, MEMBER 6; CHMP6 CHROMATIN-MODIFYING PROTEIN 6;; CHARGED MULTIVESICULAR BODY PROTEIN 6;; VPS20, YEAST, HOMOLOG OF; VPS20
Asterisk 610902 CHROMOSOME 6 OPEN READING FRAME 55; C6ORF55 SKD1-BINDING PROTEIN 1; SBP1;; LYST-INTERACTING PROTEIN 5; LIP5;; VTA1, YEAST, HOMOLOG OF; VTA1;; DOPAMINE-RESPONSIVE GENE 1; DRG1
Asterisk 610903 VACUOLAR PROTEIN SORTING 36, S. CEREVISIAE, HOMOLOG OF; VPS36 ELL-ASSOCIATED PROTEIN, 45-KD; EAP45
Asterisk 610904 SNF8, S. CEREVISIAE, HOMOLOG OF; SNF8 VACUOLAR PROTEIN SORTING 22, S. CEREVISIAE, HOMOLOG OF; VPS22;; ELL-ASSOCIATED PROTEIN, 30-KD; EAP30
Caret 610905 MOVED TO 225750
Percent 610906 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4 ASRT4;; ASTHMA AND ALLERGIC RHINITIS, SUSCEPTIBILITY TO
Asterisk 610907 VACUOLAR PROTEIN SORTING 25, S. CEREVISIAE, HOMOLOG OF; VPS25 ELL-ASSOCIATED PROTEIN, 20-KD; EAP20
Percent 610908 AUTISM, SUSCEPTIBILITY TO, 13; AUTS13
Asterisk 610909 MINICHROMOSOME MAINTENANCE COMPLEX-BINDING PROTEIN; MCMBP CHROMOSOME 10 OPEN READING FRAME 119; C10ORF119
Percent 610910 PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED PAP, ACQUIRED;; PULMONARY ALVEOLAR LIPOPROTEINOSIS, ACQUIRED;; PULMONARY ALVEOLAR PROTEINOSIS, AUTOIMMUNE
Asterisk 610911 RHO GTPase-ACTIVATING PROTEIN 31; ARHGAP31 CDC42 GTPase-ACTIVATING PROTEIN; CDGAP;; KIAA1204
Asterisk 610912 AMELOTIN; AMTN
Number Sign 610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2 INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN C DEFICIENCY;; DESQUAMATIVE INTERSTITIAL PNEUMONITIS DUE TO SURFACTANT PROTEIN C DEFICIENCY;; PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 2
Asterisk 610914 ECTO-NOX DISULFIDE-THIOL EXCHANGER 1; ENOX1 CNOX
Number Sign 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8 OI, TYPE VIII
Asterisk 610916 NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 2; NSUN2 NOL1/NOP2/SUN DOMAIN FAMILY, MEMBER 2;; TRM4, S. CEREVISIAE, HOMOLOG OF; TRM4;; SUBSTRATE OF AIM1/AURORA KINASE B; SAKI;; MYC-INDUCED SUN DOMAIN-CONTAINING PROTEIN; MISU
Asterisk 610917 RAS-ASSOCIATED PROTEIN 34; RAB34 RAH, MOUSE, HOMOLOG OF; RAH
Asterisk 610918 SELENOPROTEIN M; SELENOM SELM;; SEPM
Asterisk 610919 GTP-BINDING PROTEIN 5; GTPBP5 OBGH1
Asterisk 610920 GTP-BINDING PROTEIN 10; GTPBP10 OBGH2
Number Sign 610921 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3 PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 3;; INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY
Asterisk 610922 NUCLEAR PORE ASSOCIATED PROTEIN 1; NPAP1 CHROMOSOME 15 OPEN READING FRAME 2; C15ORF2
Asterisk 610923 SOLUTE CARRIER FAMILY 35 (UDP-XYLOSE/UDP-N-ACETYLGLUCOSAMINE TRANSPORTER), MEMBER B4; SLC35B4
Asterisk 610924 RANBP-TYPE AND C3HC4-TYPE ZINC FINGER-CONTAINING 1; RBCK1 RBCC PROTEIN INTERACTING WITH PKC 1;; HEME-OXIDIZED IRP2 UBIQUITIN LIGASE 1; HOIL1;; HOIL1L;; HEPATITIS B VIRUS X-ASSOCIATED PROTEIN 3; XAP3
Asterisk 610925 INTERLEUKIN 17 RECEPTOR C; IL17RC INTERLEUKIN 17 RECEPTOR-LIKE PROTEIN; IL17RL
Percent 610926 TOOTH AGENESIS, SELECTIVE, 5; STHAG5 HYPODONTIA/OLIGODONTIA 5;; HE-ZHAO DEFICIENCY
Number Sign 610927 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9; SLEB9
Asterisk 610928 SRY-BOX 17; SOX17 SRY-RELATED HMG-BOX GENE 17
Asterisk 610929 ORAI CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 2; ORAI2 TRANSMEMBRANE PROTEIN 142B; TMEM142B;; CHROMOSOME 7 OPEN READING FRAME 19; C7ORF19
Asterisk 610930 ORAI CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 3; ORAI3 TRANSMEMBRANE PROTEIN 142C; TMEM142C
Asterisk 610931 ZINC FINGER GENE IN AUTOIMMUNE THYROID DISEASE 1; ZFAT1 ZINC FINGER PROTEIN 406; ZNF406
Asterisk 610932 TWINFILIN, DROSOPHILA, HOMOLOG OF, 1; TWF1 PROTEIN TYROSINE KINASE 9; PTK9;; A6 PROTEIN TYROSINE KINASE
Asterisk 610933 LEUCINE-RICH REPEAT- AND STERILE ALPHA MOTIF-CONTAINING 1; LRSAM1 TSG101-ASSOCIATED LIGASE; TAL;; RING ZINC FINGER AND LEUCINE-RICH REPEAT-CONTAINING PROTEIN; RIFLE
Asterisk 610934 NEWBORN OVARY HOMEOBOX, MOUSE, HOMOLOG OF; NOBOX
Asterisk 610935 LIGAND-GATED ION CHANNEL, ZINC-ACTIVATED, 1; LGICZ1 Zn(2+)-ACTIVATED CHANNEL; ZAC;; L2
Asterisk 610936 PHOSPHOSERINE AMINOTRANSFERASE 1; PSAT1 PSAT;; ENDOMETRIAL PROGESTERONE-INDUCED PROTEIN; EPIP
Asterisk 610937 RPGRIP1-LIKE; RPGRIP1L NEPHROCYSTIN 8; NPHP8;; KIAA1005
Number Sign 610938 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7; CHDS7
Asterisk 610939 MICRO RNA 192; MIR192 miRNA192;; MIRN192
Asterisk 610940 MICRO RNA 194-1; MIR194-1 miRNA194-1;; MIRN194-1
Asterisk 610941 MICRO RNA 194-2; MIR194-2 miRNA194-2;; MIRN194-2
Asterisk 610942 MICRO RNA 204; MIR204 miRNA204;; MIRN204
Asterisk 610943 MICRO RNA 215; MIR215 miRNA215;; MIRN215
Asterisk 610944 MICRO RNA 216; MIR216 miRNA216;; MIRN216
Asterisk 610945 MICRO RNA 296; MIR296 miRNA296;; MIRN296
Asterisk 610946 MICRO RNA 133B; MIR133B miRNA133B;; MIRN133B
Number Sign 610947 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2
Percent 610948 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 7 HYT7
Asterisk 610949 SYNAPTOTAGMIN 14; SYT14
Asterisk 610950 SYNAPTOTAGMIN 16; SYT16 SYNAPTOTAGMIN 14-RELATED PROTEIN; STREP14
Number Sign 610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
Asterisk 610952 CROOKED NECK PRE-mRNA SPLICING FACTOR-LIKE 1; CRNKL1 CROOKED NECK, DROSOPHILA, HOMOLOG OF; CRN
Asterisk 610953 PIF1, S. CEREVISIAE, HOMOLOG OF; PIF1 PIF
Number Sign 610954 PITT-HOPKINS SYNDROME; PTHS ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION;; MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION
Asterisk 610955 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 3; TRAPPC3 BET3, YEAST, HOMOLOG OF; BET3
Asterisk 610956 ASPARTYL-tRNA SYNTHETASE 2; DARS2 ASPARTYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MT-ASPRS
Asterisk 610957 TYROSYL-tRNA SYNTHETASE 2; YARS2 TYROSYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MT-TYRRS
Asterisk 610958 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 9; AGPAT9 GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE 3; GPAT3;; GPAT, ENDOPLASMIC RETICULUM-ASSOCIATED;; LUNG CANCER METASTASIS-ASSOCIATED GENE 1; MAG1;; LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE, THETA;; LPAAT-THETA
Asterisk 610959 MICRO RNA 376A1; MIR376A1 miRNA376A1;; MIRN376A1
Asterisk 610960 MICRO RNA 376A2; MIR376A2 miRNA376A2;; MIRN376A2
Asterisk 610961 MICRO RNA 376B; MIR376B miRNA376B;; MIRN376B; MIR376B
Asterisk 610962 SMG5, C. ELEGANS, HOMOLOG OF; SMG5 EVER SHORTER TELOMERES 1, S. CEREVISIAE, HOMOLOG OF, B; EST1B;; KIAA1089
Asterisk 610963 SMG6, C. ELEGANS, HOMOLOG OF; SMG6 EVER SHORTER TELOMERES 1, S. CEREVISIAE, HOMOLOG OF, A; EST1A;; KIAA0732
Asterisk 610964 SMG7, C. ELEGANS, HOMOLOG OF; SMG7 EVER SHORTER TELOMERES 1, S. CEREVISIAE, HOMOLOG OF, C; EST1C;; KIAA0250
Number Sign 610965 XFE PROGEROID SYNDROME; XFEPS XPF-ERCC1 PROGEROID SYNDROME
Asterisk 610966 FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO FATSO, MOUSE, HOMOLOG OF
Number Sign 610967 OSTEOGENESIS IMPERFECTA, TYPE V; OI5 OI, TYPE V
Number Sign 610968 OSTEOGENESIS IMPERFECTA, TYPE XI; OI11 OI, TYPE XI
Asterisk 610969 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 1; TRAPPC1 BET5, S. CEREVISIAE, HOMOLOG OF;; MELANOMA UBIQUITOUS MUTATED 2; MUM2
Asterisk 610970 TRAFFICKING PROTEIN PARTICLE COMPLEX 2-LIKE; TRAPPC2L
Asterisk 610971 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 4; TRAPPC4 SYNBINDIN
Asterisk 610972 ADHERENS JUNCTION-ASSOCIATED PROTEIN 1; AJAP1 SHREW1
Asterisk 610973 MEMBRANE PROTEIN, PALMITOYLATED 7; MPP7
Asterisk 610974 ZINC FINGER PROTEIN 521; ZNF521 EARLY HEMATOPOIETIC ZINC FINGER; EHZF;; EVI3, MOUSE, HOMOLOG OF
Asterisk 610975 SKIN-, EMBRYO-, BRAIN-, AND OOCYTE-SPECIFIC HOMEOBOX SEBOX;; OG9
Asterisk 610976 APOLIPOPROTEIN B mRNA EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3H; APOBEC3H APOBEC-RELATED PROTEIN 10; ARP10
Asterisk 610977 TETRACYCLINE TRANSPORTER-LIKE PROTEIN TETRAN;; TPO1, S. CEREVISIAE, HOMOLOG OF; TPO1
Number Sign 610978 CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION; CAHTP BRAIN-LUNG-THYROID SYNDROME
Asterisk 610979 DIPHOSPHOINOSITOL PENTAKISPHOSPHATE KINASE 1; PPIP5K1 HISTIDINE ACID PHOSPHATASE DOMAIN-CONTAINING PROTEIN 2A; HISPPD2A;; INOSITOL PYROPHOSPHATE SYNTHASE 1; IPS1;; IP6 KINASE: IP6K;; VIP1;; KIAA0377
Asterisk 610980 KCNQ1 DOWNSTREAM NEIGHBOR; KCNQ1DN
Asterisk 610981 WWBP2 N-TERMINAL-LIKE PROTEIN; WBP2NL POSTACROSOMAL SHEATH WW DOMAIN-BINDING PROTEIN; PAWP
Asterisk 610982 INVERTED FORMIN 2; INF2 FORMIN, INVERTED, 2;; CHROMOSOME 14 OPEN READING FRAME 173; C14ORF173
Asterisk 610983 MICRO RNA 376C; MIR376C miRNA376C;; MIRN376C;; MICRO RNA 368; MIR368; MIRN368;; miRNA368
Number Sign 610984 COMPLEMENT FACTOR I DEFICIENCY; CFID COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY;; C3 INACTIVATOR DEFICIENCY
Asterisk 610985 UBIQUITIN E2 VARIANT AND LACTATE/MALATE DEHYDROGENASE DOMAINS-CONTAINING PROTEIN; UEVLD UEV2 AND LDH DOMAINS-CONTAINING PROTEIN;; UBIQUITIN-CONJUGATING ENZYME E2 VARIANT 3; UEV3;; ATTP
Asterisk 610986 LEUCINE-RICH REPEAT KINASE 1; LRRK1
Asterisk 610987 N-ACYLSPHINGOSINE AMIDOHYDROLASE 2C; ASAH2C NONLYSOSOMAL CERAMIDASE C;; CERAMIDASE, NONLYSOSOMAL, C;; ASAH2-LIKE; ASAH2L
Number Sign 610988 LEPROSY, SUSCEPTIBILITY TO, 4; LPRS4 LEPROSY, EARLY-ONSET, SUSCEPTIBILITY TO, INCLUDED
Asterisk 610989 LEMUR TYROSINE KINASE 2; LMTK2 KINASE/PHOSPHATASE INHIBITOR 2; KPI2;; BRAIN-ENRICHED KINASE; BREK;; KIAA1079
Asterisk 610990 PROTEIN PHOSPHATASE 1 REGULATORY SUBUNIT 18; PPP1R18 KIAA1949 GENE; KIAA1949;; PROTEIN PHOSPHATASE 1 F-ACTIN CYTOSKELETON-TARGETING SUBUNIT;; PHOSTENSIN
Asterisk 610991 OBSCURIN-LIKE 1; OBSL1 KIAA0657
Number Sign 610992 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; PSATD PSAT DEFICIENCY
Asterisk 610993 UBIQUITIN-SPECIFIC PROTEASE 44; USP44
Asterisk 610994 TRANSMEMBRANE PROTEIN 189; TMEM189 KUA KUA/UEV1 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED
Asterisk 610995 PRENYLCYSTEINE OXIDASE 1; PCYOX1 PRENYLCYSTEINE LYASE; PCL1;; KIAA0908
Asterisk 610996 D-TYROSYL-tRNA DEACYLASE 1, S. CEREVISIAE, HOMOLOG OF; DTD1 CHROMOSOME 20 OPEN READING FRAME 88; C20ORF88
Percent 610997 PROSTATE CANCER, HEREDITARY, 9 HPC9
Asterisk 610998 METEORIN; METRN
Asterisk 610999 ENHANCER OF POLYCOMB, DROSOPHILA, HOMOLOG OF, 1; EPC1
Asterisk 611000 ENHANCER OF POLYCOMB, DROSOPHILA, HOMOLOG OF, 2; EPC2 EPC-LIKE
Asterisk 611001 MYST/ESA1-ASSOCIATED FACTOR 6; MEAF6 EAF6, S. CEREVISIAE, HOMOLOG OF; EAF6;; CHROMOSOME 1 OPEN READING FRAME 149; C1ORF149
Asterisk 611002 TRANSMEMBRANE PROTEIN 204; TMEM204 CLAUDIN-LIKE PROTEIN, 24-KD; CLP24;; CHROMOSOME 16 OPEN READING FRAME 30; C16ORF30
Percent 611003 SMOKING AS A QUANTITATIVE TRAIT LOCUS 1; SQTL1
Percent 611004 SMOKING AS A QUANTITATIVE TRAIT LOCUS 2; SQTL2
Asterisk 611005 MEX3, C. ELEGANS, HOMOLOG OF, C; MEX3C RING FINGER- AND KH DOMAIN-CONTAINING PROTEIN 2; RKHD2
Asterisk 611006 IRON-SULFUR CLUSTER ASSEMBLY 1, S. CEREVISIAE, HOMOLOG OF; ISCA1 HESB-LIKE DOMAIN-CONTAINING 2; HBLD2;; HISCA
Asterisk 611007 MEX3, C. ELEGANS, HOMOLOG OF, A; MEX3A
Asterisk 611008 MEX3, C. ELEGANS, HOMOLOG OF, B; MEX3B RING FINGER- AND KH DOMAIN-CONTAINING PROTEIN 3; RKHD3
Asterisk 611009 MEX3, C. ELEGANS, HOMOLOG OF, D; MEX3D RING FINGER- AND KH DOMAIN-CONTAINING PROTEIN 1; RKHD1;; TINO;; KIAA2031
Percent 611010 FIBROMATOSIS, GINGIVAL, 4; GINGF4 GGF4;; FIBROMATOSIS, GINGIVAL, HEREDITARY, 4; HGF4
Asterisk 611011 TRANSMEMBRANE PROTEIN 259; TMEM259 CHROMOSOME 19 OPEN READING FRAME 6; C19ORF6;; MEMBRALIN
Asterisk 611012 REGULATOR OF G PROTEIN SIGNALING-LIKE 1; RGSL1
Asterisk 611013 REGULATOR OF G PROTEIN SIGNALING-LIKE 2; RGSL2
Percent 611014 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8; HYT8
Percent 611015 AUTISM, SUSCEPTIBILITY TO, 9; AUTS9
Percent 611016 AUTISM, SUSCEPTIBILITY TO, 10; AUTS10
Asterisk 611017 TRYPSIN DOMAIN-CONTAINING PROTEIN 1; TYSND1
Asterisk 611018 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 2B; PAIP2B POLY(A)-BINDING PROTEIN-INTERACTING PROTEIN 2B;; PABP-INTERACTING PROTEIN 2B
Asterisk 611019 ATPase, H+ TRANSPORTING, LYSOSOMAL, 9-KD, V0 SUBUNIT E2; ATP6V0E2
Asterisk 611020 MICRO RNA 21; MIR21 miRNA21;; MIRN21
Asterisk 611021 NMD3, S. CEREVISIAE, HOMOLOG OF; NMD3
Number Sign 611022 DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24
Asterisk 611023 tRNA METHYLTRANSFERASE 5, S. CEREVISIAE, HOMOLOG OF; TRMT5 TRM5;; KIAA1393
Asterisk 611024 ZINC FINGER PROTEIN 667; ZNF667 MIPU1, RAT, HOMOLOG OF; MIPU1
Asterisk 611025 ENKURIN, TRPC CHANNEL-INTERACTING PROTEIN; ENKUR ENKURIN, MOUSE, HOMOLOG OF;; CHROMOSOME 10 OPEN READING FRAME 63; C10ORF63
Asterisk 611026 FATTY ACID 2-HYDROXYLASE; FA2H FATTY ACID ALPHA-HYDROXYLASE; FAAH;; FATTY ACID HYDROXYLASE DOMAIN-CONTAINING PROTEIN 1; FAXDC1;; FAH1, S. CEREVISIAE, HOMOLOG OF; FAH1;; SCS7, S. CEREVISIAE, HOMOLOG OF; SCS7
Asterisk 611027 SHC SH2 DOMAIN-BINDING PROTEIN 1; SHCBP1 PROTEIN EXPRESSED IN ACTIVATED LYMPHOCYTES; PAL
Asterisk 611028 TRANSMEMBRANE PROTEIN 30A; TMEM30A CDC50, S. CEREVISIAE, HOMOLOG OF, A; CDC50A
Asterisk 611029 TRANSMEMBRANE PROTEIN 30B; TMEM30B CDC50, S. CEREVISIAE, HOMOLOG OF, B; CDC50B
Asterisk 611030 TRANSMEMBRANE PROTEIN 30C; TMEM30C CDC50, S. CEREVISIAE, HOMOLOG OF, C; CDC50C
Percent 611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2 DYSTONIA 19; DYT19
Asterisk 611032 SPERMATOGENESIS-ASSOCIATED PROTEIN 17; SPATA17 MSRG11
Asterisk 611033 CHROMOSOME 11 OPEN READING FRAME 21; C11ORF21
Asterisk 611034 SOLUTE CARRIER FAMILY 17 (ORGANIC ANION TRANSPORTER), MEMBER 3; SLC17A3 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 3;; NPT4
Asterisk 611035 APRATAXIN- AND PNKP-LIKE FACTOR; APLF APRATAXIN- AND PNK-LIKE FACTOR;; CHROMOSOME 2 OPEN READING FRAME 13; C2ORF13
Asterisk 611036 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 13; SLC2A13 PROTON (H+) MYOINOSITOL SYMPORTER; HMIT
Asterisk 611037 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 26; SLC25A26 S-ADENOSYLMETHIONINE CARRIER PROTEIN; SAMC
Number Sign 611038 MICROPHTHALMIA, ISOLATED 3; MCOP3
Asterisk 611039 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 14; SLC2A14 GLUCOSE TRANSPORTER 14; GLUT14
Number Sign 611040 MICROPHTHALMIA, ISOLATED 5; MCOP5 MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN
Asterisk 611041 TRIPARTITE MOTIF-CONTAINING PROTEIN 47; TRIM47 GENE OVEREXPRESSED IN ASTROCYTOMA; GOA
Asterisk 611042 LATE CORNIFIED ENVELOPE-LIKE PROLINE-RICH 1; LELP1
Asterisk 611043 LIN28, C. ELEGANS, HOMOLOG OF, A; LIN28A LIN28;; ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 1; ZCCHC1
Asterisk 611044 LIN28, C. ELEGANS, HOMOLOG OF, B; LIN28B
Asterisk 611045 GLUCOSE-6-PHOSPHATASE, CATALYTIC, 3; G6PC3 UBIQUITOUS GLUCOSE-6-PHOSPHATASE CATALYTIC SUBUNIT-RELATED PROTEIN; UGRP;; GLUCOSE-6-PHOSPHATASE, BETA;; G6Pase-BETA
Percent 611046 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 MTBS2
Asterisk 611047 RETINOIC ACID EARLY TRANSCRIPT 1L; RAET1L
Asterisk 611048 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 15A; PPP1R15A GROWTH ARREST AND DNA-DAMAGE-INDUCIBLE GENE 34; GADD34
Asterisk 611049 SOLUTE CARRIER FAMILY 17, MEMBER 2; SLC17A2 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 2;; NPT3
Asterisk 611050 LEUCINE ZIPPER PROTEIN 6; LUZP6 MYELOPROLIFERATIVE DISEASE-ASSOCIATED ANTIGEN, 6-KD; MPD6
Asterisk 611051 COILED-COIL DOMAIN-CONTAINING PROTEIN 50; CCDC50 YMER;; CHROMOSOME 3 OPEN READING FRAME 6; C3ORF6
Asterisk 611052 SET DOMAIN-CONTAINING PROTEIN 1A; SETD1A SET1A;; SET1;; LYSINE-SPECIFIC METHYLTRANSFERASE 2F; KMT2F;; KIAA0339
Asterisk 611053 RUN DOMAIN AND SH3 DOMAIN-CONTAINING PROTEIN 2; RUSC2 KIAA0375;; IPORIN
Asterisk 611054 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING PROTEIN ALPHA-1; PPFIA1 LAR-INTERACTING PROTEIN 1; LIP1;; LIPRIN-ALPHA-1
Asterisk 611055 SET DOMAIN-CONTAINING PROTEIN 1B; SETD1B SET1B;; LYSINE-SPECIFIC METHYLTRANSFERASE 2G; KMT2G;; KIAA1076
Asterisk 611056 SELENOCYSTEINE LYASE; SCLY SCL
Caret 611057 MOVED TO 603989
Asterisk 611058 PEROXISOME BIOGENESIS FACTOR 5-LIKE; PEX5L PEX5-RELATED PROTEIN; PEX5R;; PXR2B;; TRIP8B
Asterisk 611059 WD REPEAT-CONTAINING PROTEIN 82; WDR82 TRANSMEMBRANE PROTEIN 113; TMEM113
Asterisk 611060 SET-BINDING PROTEIN 1; SETBP1 SEB;; KIAA0437 SETBP1/NUP98 FUSION GENE, INCLUDED
Asterisk 611061 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER C; FAM20C DENTIN MATRIX PROTEIN 4; DMP4
Asterisk 611062 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER A; FAM20A
Asterisk 611063 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER B; FAM20B KIAA0475
Number Sign 611064 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 ASRT5
Asterisk 611065 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1K; PPM1K PROTEIN PHOSPHATASE, PP2C DOMAIN-CONTAINING, 1K;; PROTEIN PHOSPHATASE 2C, MITOCHONDRIAL; PP2CM;; PP2C-TYPE MITOCHONDRIAL PHOSPHATASE; PTMP;; BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE PHOSPHATASE; BDP
Asterisk 611066 PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE-LIKE; PHLPPL PHLPP-LIKE;; PHLPP2
Number Sign 611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4
Asterisk 611068 SMALL NUCLEOLAR RNA, C/D BOX, 43; SNORD43 RNA, U43 SMALL NUCLEOLAR; RNU43;; snoRNA, U43
Asterisk 611069 RNA, U86 SMALL NUCLEOLAR RNU86;; snoRNA, U86
Asterisk 611070 SMALL NUCLEOLAR RNA, C/D BOX, 83A; SNORD83A RNA, U83A SMALL NUCLEOLAR; RNU83A;; snoRNA, U83A
Asterisk 611071 SMALL NUCLEOLAR RNA, C/D BOX, 83B; SNORD83B RNA, U83B SMALL NUCLEOLAR; RNU83B;; snoRNA, U83B
Asterisk 611072 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 24; DNAJC24 DPH4, S. CEREVISIAE, HOMOLOG OF; DPH4
Percent 611073 ALZHEIMER DISEASE 12 AD12;; ALZHEIMER DISEASE, FAMILIAL, 12
Asterisk 611074 BRAIN-SPECIFIC HOMEOBOX, MOUSE, HOMOLOG OF; BSX BSX1
Asterisk 611075 DPH5, S. CEREVISIAE, HOMOLOG OF; DPH5 HSPC143
Asterisk 611076 5-PRIME-NUCLEOTIDASE DOMAIN-CONTAINING PROTEIN 3; NT5DC3 TU12B1TY;; GRP94-NEIGHBORING NUCLEOTIDASE; GNN
Asterisk 611077 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 4; CHCHD4 MIA40, S. CEREVISIAE, HOMOLOG OF; MIA40
Asterisk 611078 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 1; CBWD1 COBW DOMAIN-CONTAINING PROTEIN 1
Asterisk 611079 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 2; CBWD2 COBW DOMAIN-CONTAINING PROTEIN 2
Asterisk 611080 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 3; CBWD3 COBW DOMAIN-CONTAINING PROTEIN 3
Number Sign 611081 INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 10; IBD10
Asterisk 611082 MIAT GENE; MIAT C22ORF35
Asterisk 611083 ALCOHOL DEHYDROGENASE, IRON-CONTAINING, 1; ADHFE1 HYDROXYACID-OXOACID TRANSHYDROGENASE; HOT;; ALCOHOL DEHYDROGENASE 8; ADH8
Asterisk 611084 FORKHEAD BOX D4-LIKE 1; FOXD4L1 FOXD4-LIKE 1
Asterisk 611085 FORKHEAD BOX D4-LIKE 4; FOXD4L4 FOXD4B;; FORKHEAD BOX D4-LIKE 2; FOXD4L2;; FOXD4-LIKE 2
Asterisk 611086 FORKHEAD BOX D4-LIKE 3; FOXD4L3 FOXD4-LIKE 3
Number Sign 611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE PMSE SYNDROME
Asterisk 611088 COILED-COIL DOMAIN-CONTAINING PROTEIN 65; CCDC65 NYD-SP28
Asterisk 611089 MYOTUBULARIN-RELATED PROTEIN 14; MTMR14 C3ORF29;; EGG-DERIVED TYROSINE PHOSPHATASE, DROSOPHILA, HOMOLOG OF;; HJUMPY
Number Sign 611090 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12
Number Sign 611091 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5
Number Sign 611092 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6
Number Sign 611093 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22; MRT22
Caret 611094 MOVED TO 614300
Percent 611095 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9; MRT9 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 26; MRT26
Percent 611096 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10; MRT10 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 20; MRT20
Percent 611097 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11; MRT11
Asterisk 611098 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 4; STEAP4 SIX-TRANSMEMBRANE PROTEIN OF PROSTATE 2; STAMP2;; TUMOR NECROSIS-ALPHA-INDUCED ADIPOSE-RELATED PROTEIN; TIARP
Asterisk 611099 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 6; PDIA6 P5;; ENDOPLASMIC RETICULUM PROTEIN 5; ERP5
Percent 611100 PROSTATE CANCER, HEREDITARY, 10; HPC10
Asterisk 611101 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 5; PLEKHG5 KIAA0720
Number Sign 611102 DEAFNESS-INFERTILITY SYNDROME; DIS DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY;; CHROMOSOME 15q15.3 DELETION SYNDROME
Asterisk 611103 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9
Asterisk 611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4 FGD1-RELATED F-ACTIN-BINDING PROTEIN; FRABIN
Number Sign 611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY
Asterisk 611106 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12D; ZC3H12D p34;; C6ORF95;; MCPIP4
Percent 611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4; MRT4
Asterisk 611108 VON WILLEBRAND FACTOR C DOMAIN-CONTAINING PROTEIN 2; VWC2 BRAIN-SPECIFIC CHORDIN-LIKE PROTEIN; BRORIN
Percent 611109 CINNAMON ODOR, PLEASANTNESS OF CINN
Asterisk 611110 MAP3K7 C-TERMINAL-LIKE PROTEIN; MAP3K7CL TAK1-LIKE; TAK1L;; CHROMOSOME 21 OPEN READING FRAME 7; C21ORF7
Asterisk 611111 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 5; DPPA5 EMBRYONAL STEM CELL-SPECIFIC GENE 1; ESG1
Asterisk 611112 DAPPER, ANTAGONIST OF BETA-CATENIN, 3; DACT3 DAPPER, XENOPUS, HOMOLOG OF, 3
Asterisk 611113 CEMENTUM PROTEIN 1; CEMP1 CEMENTUM PROTEIN 23; CP23
Asterisk 611114 MICRO RNA 150; MIR150 miRNA150;; MIRN150
Asterisk 611115 VON WILLEBRAND FACTOR C AND EGF DOMAIN-CONTAINING PROTEIN; VWCE VWC1;; URG11
Asterisk 611116 MICRO RNA 208A; MIR208A miRNA208A;; MIRN208A;; MIR208;; miRNA208;; MIRN208
Asterisk 611117 PROTEIN PHOSPHATASE METHYLESTERASE 1; PPME1 PME1
Asterisk 611118 NUCLEAR PRELAMIN A RECOGNITION FACTOR-LIKE; NARFL IRON-ONLY HYDROGENASE-LIKE PROTEIN 1; IOP1
Asterisk 611119 KELCH-LIKE 7; KLHL7
Asterisk 611120 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 3; SPTLC3 SPTLC2L;; LCB2B
Asterisk 611121 CALMIN; CLMN CALPONIN-LINE TRANSMEMBRANE DOMAIN PROTEIN;; KIAA1188
Asterisk 611122 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 28; ANKRD28 PHOSPHATASE INTERACTOR TARGETING K PROTEIN; PITK;; KIAA0379
Asterisk 611123 EPHRIN RECEPTOR EphA10; EPHA10
Asterisk 611124 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 8; MFSD8 MGC33302
Asterisk 611125 DERMATAN SULFATE EPIMERASE-LIKE; DSEL C18ORF4;; NCAG1
Number Sign 611126 MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY ACYL-CoA DEHYDROGENASE 9 DEFICIENCY;; ACAD9 DEFICIENCY
Asterisk 611127 UBIQUITIN-LIKE 4B; UBL4B
Asterisk 611128 MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 2; MDGA2 MAM DOMAIN-CONTAINING PROTEIN 1; MAMDC1
Asterisk 611129 CHROMOSOME 10 OPEN READING FRAME 26; C10ORF26 OPAL1
Asterisk 611130 CHMP FAMILY, MEMBER 7; CHMP7 CHARGED MULTIVESICULAR BODY PROTEIN 7;; CHROMATIN-MODIFYING PROTEIN 7
Number Sign 611131 RETINITIS PIGMENTOSA 37; RP37
Asterisk 611132 RIBOKINASE; RBKS
Asterisk 611133 SMALL NUCLEOLAR RNA, C/D BOX, 82; SNORD82 RNA, U82 SMALL NUCLEOLAR; RNU82;; snoRNA, U82
Number Sign 611134 MECKEL SYNDROME, TYPE 4; MKS4 MECKEL-GRUBER SYNDROME, TYPE 4 MECKEL-LIKE CEREBRORENODIGITAL SYNDROME, INCLUDED
Asterisk 611135 KLOTHO, BETA; KLB BETA-KLOTHO; BKL
Number Sign 611136 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5, INCLUDED; EJM5, INCLUDED;; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4, INCLUDED; ECA4, INCLUDED
Asterisk 611137 PROTEASOME SUBUNIT, BETA-TYPE, 11; PSMB11 PROTEASOME SUBUNIT, BETA-5 FAMILY, THYMUS-SPECIFIC;; PROTEASOME SUBUNIT BETA-5T
Asterisk 611138 SPERMATID PERINUCLEAR RNA-BINDING PROTEIN; STRBP SPNR;; p74, RAT, HOMOLOG OF
Percent 611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8
Asterisk 611140 TELOMERE MAINTENANCE 2, S. CEREVISIAE, HOMOLOG OF; TELO2 TEL2, S. CEREVISIAE, HOMOLOG OF; TEL2;; CLK2, C. ELEGANS, HOMOLOG OF; CLK2;; KIAA0683;; HCLK2
Asterisk 611141 MINDBOMB, DROSOPHILA, HOMOLOG OF, 2; MIB2 SKELETROPHIN
Asterisk 611142 CYTOSKELETON-ASSOCIATED PROTEIN 5; CKAP5 COLONIC AND HEPATIC TUMOR OVEREXPRESSED GENE; CHTOG;; MINI SPINDLES, DROSOPHILA, HOMOLOG OF; MSPS;; KIAA0097
Asterisk 611143 FAMILY WITH SEQUENCE SIMILARITY 175, MEMBER A; FAM175A COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98;; ABRAXAS; ABRA1
Asterisk 611144 FAMILY WITH SEQUENCE SIMILARITY 175, MEMBER B; FAM175B ABRAXAS BROTHER 1; ABRO1;; KIAA0157
Asterisk 611145 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8 ZINC TRANSPORTER 8; ZNT8
Asterisk 611146 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 10; SLC30A10 ZINC TRANSPORTER 10; ZNT10
Percent 611147 PAROXYSMAL NONKINESIGENIC DYSKINESIA 2; PNKD2 DYSTONIA 20; DYT20
Asterisk 611148 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 6; SLC30A6 ZINC TRANSPORTER 6; ZNT6
Asterisk 611149 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 7; SLC30A7 ZINC TRANSPORTER 7; ZNT7
Asterisk 611150 ATAXIN 10; ATXN10 E46-LIKE; E46L
Asterisk 611151 tRNA METHYLTRANSFERASE 2, S. CEREVISIAE, HOMOLOG OF, A; TRMT2A HPAII TINY FRAGMENTS LOCUS 9C; HTF9C
Percent 611152 ALZHEIMER DISEASE 13; AD13
Asterisk 611153 XPA GENE; XPA XPA COMPLEMENTING GENE; XPAC
Percent 611154 ALZHEIMER DISEASE 14; AD14
Percent 611155 ALZHEIMER DISEASE 15; AD15
Asterisk 611156 ENDOPLASMIC RETICULUM METALLOPEPTIDASE 1; ERMP1 FXNA, RAT, HOMOLOG OF;; KIAA1815
Asterisk 611157 MRG/MORF4L-BINDING PROTEIN; MRGBP CHROMOSOME 20 OPEN READING FRAME 20; C20ORF20
Asterisk 611158 KERATIN 77, TYPE II; KRT77 K77;; KB39;; KERATIN 1B; K1B
Asterisk 611159 KERATIN 78, TYPE II; KRT78 K78;; KB40;; KERATIN 5B; K5B
Asterisk 611160 KERATIN 79, TYPE II; KRT79 K79;; KB38;; KERATIN 6-LIKE; K6L; KRT6L
Asterisk 611161 KERATIN 80, TYPE II; KRT80 K80;; KERATIN B20; KB20
Number Sign 611162 MALARIA, SUSCEPTIBILITY TO MALARIA, RESISTANCE TO, INCLUDED;; MALARIA, SEVERE, SUSCEPTIBILITY TO, INCLUDED;; MALARIA, SEVERE, RESISTANCE TO, INCLUDED;; MALARIA, CEREBRAL, SUSCEPTIBILITY TO, INCLUDED;; MALARIA, CEREBRAL, RESISTANCE TO, INCLUDED
Asterisk 611163 TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 2; TOX2 GRANULOSA CELL HMG-BOX PROTEIN 1; GCX1;; C20ORF100
Asterisk 611164 ARGININE-FIFTY HOMEOBOX; ARGFX
Asterisk 611165 DIVERGENT-PAIRED RELATED HOMEOBOX; DPRX
Asterisk 611166 TETRAPEPTIDE REPEAT HOMEOBOX 1; TPRX1
Asterisk 611167 TETRAPEPTIDE REPEAT HOMEOBOX-LIKE; TPRXL
Asterisk 611168 DOUBLE HOMEOBOX A; DUXA
Asterisk 611169 CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT BETA; CATSPERB CATSPER-BETA;; CHROMOSOME 14 OPEN READING FRAME 161; C14ORF161
Asterisk 611170 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9-LIKE; SAMD9L
Asterisk 611171 KIAA1598 GENE; KIAA1598 SHOOTIN1
Asterisk 611172 MICRO RNA 34A; MIR34A miRNA34A;; MIRN34A
Asterisk 611173 MICRO RNA 375; MIR375 miRNA375;; MIRN375
Number Sign 611174 HAMAMY SYNDROME; HMMS HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY
Asterisk 611175 OBG-LIKE ATPase 1; OLA1 GTP-BINDING PROTEIN 9; GTPBP9
Asterisk 611176 JNK/MAPK8-ASSOCIATED MEMBRANE PROTEIN; JKAMP JNK1-ASSOCIATED MEMBRANE PROTEIN; JAMP;; CHROMOSOME 14 OPEN READING FRAME 100; C14ORF100
Asterisk 611177 INTRAFLAGELLAR TRANSPORT 80, CHLAMYDOMONAS, HOMOLOG OF; IFT80 KIAA1374;; WD REPEAT-CONTAINING PROTEIN 56; WDR56
Asterisk 611178 GALANIN-LIKE PEPTIDE; GALP GALANIN-LIKE PEPTIDE PRECURSOR PROTEIN, INCLUDED;; GALP PRECURSOR PROTEIN, INCLUDED;; ALARIN, INCLUDED
Asterisk 611179 SHROOM FAMILY MEMBER 1; SHROOM1 APXL2;; KIAA1960
Asterisk 611180 COFACTOR OF BRCA1; COBRA1 NEGATIVE ELONGATION FACTOR POLYPEPTIDE B; NELFB;; KIAA1182
Asterisk 611181 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 10; ACAD10
Number Sign 611182 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H CDG IIh; CDGIIh
Asterisk 611183 BRICK1, SCAR/WAVE ACTIN-NUCLEATING COMPLEX SUBUNIT; BRK1 BRICK1;; C3ORF10 GENE; C3ORF10;; HSPC300
Asterisk 611184 PIEZO-TYPE MECHANOSENSITIVE ION CHANNEL COMPONENT 1; PIEZO1 FAMILY WITH SEQUENCE SIMILARITY 38, MEMBER A; FAM38A;; MEMBRANE PROTEIN INDUCED BY BETA-AMYLOID TREATMENT; MIB
Percent 611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; RLS6 PERIODIC LIMB MOVEMENTS IN SLEEP
Asterisk 611186 MICRO RNA 9-1; MIR9-1 MIRN9-1;; miRNA9-1
Asterisk 611187 MICRO RNA 9-2; MIR9-2 MIRN9-2;; miRNA9-2
Asterisk 611188 MICRO RNA 9-3; MIR9-3 MIRN9-3;; miRNA9-3
Asterisk 611189 MICRO RNA 197; MIR197 miRNA197;; MIRN197
Asterisk 611190 MICRO RNA 346; MIR346 miRNA346;; MIRN346
Asterisk 611191 MICRO RNA 125A; MIR125A MIRN125A;; miRNA125A
Asterisk 611192 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 11; ANKRD11 ANKYRIN REPEAT-CONTAINING COFACTOR 1; ANCO1;; NASOPHARYNGEAL CARCINOMA SUSCEPTIBILITY PROTEIN;; T13;; LZ16
Asterisk 611193 RIBOSOMAL RNA-PROCESSING 15, S. CEREVISIAE, HOMOLOG OF; RRP15
Asterisk 611194 RUN AND FYVE DOMAINS-CONTAINING PROTEIN 3; RUFY3 SINGLE AXON-RELATED 1; SINGAR1;; RAP2-INTERACTING PROTEIN X; RIPX
Asterisk 611195 JANUS KINASE AND MICROTUBULE-INTERACTING PROTEIN 1; JAKMIP1 JAMIP1;; MULTIPLE ALPHA HELICES AND RNA-LINKER PROTEIN; MARLIN1
Asterisk 611196 ZINC FINGER MIZ-DOMAIN CONTAINING 2; ZMIZ2 KIAA1886;; ZIMP7
Asterisk 611197 JANUS KINASE AND MICROTUBULE-INTERACTING PROTEIN 2; JAKMIP2 JAMIP2;; NEUROENDOCRINE LONG COILED-COIL PROTEIN 1; NECC1;; KIAA0555
Asterisk 611198 JANUS KINASE AND MICROTUBULE-INTERACTING PROTEIN 3; JAKMIP3 NEUROENDOCRINE LONG COILED-COIL PROTEIN 2; NECC2;; CHROMOSOME 10 OPEN READING FRAME 39; C10ORF39;; JAMIP3
Asterisk 611199 DNTT-INTERACTING PROTEIN 2; DNTTIP2 ESTROGEN RECEPTOR-BINDING PROTEIN; ERBP;; FCF2, S. CEREVISIAE, HOMOLOG OF; FCF2
Asterisk 611200 TUDOR DOMAIN-CONTAINING PROTEIN 6; TDRD6
Asterisk 611201 KELCH-LIKE 9; KLHL9 KIAA1354
Asterisk 611202 N-ACYLSPHINGOSINE AMIDOHYDROLASE 2; ASAH2 CERAMIDASE, NONLYSOSOMAL;; NONLYSOSOMAL CERAMIDASE
Asterisk 611203 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 5; DNAJC5 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 5, ALPHA; DNAJC5A;; CYSTEINE STRING PROTEIN; CSP;; CSP-ALPHA
Asterisk 611204 COILED-COIL DOMAIN-CONTAINING PROTEIN 88C; CCDC88C HOOK-RELATED PROTEIN 2; HKRP2;; DAPLE;; KIAA1509
Asterisk 611205 COILED-COIL DOMAIN-CONTAINING PROTEIN 88B; CCDC88B HOOK-RELATED PROTEIN 3; HKRP3;; GPR78-INTERACTING PROTEIN INDUCED BY ENDOPLASMIC RETICULUM STRESS; GIPIE
Asterisk 611206 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 9; DNAJC9 J DOMAIN OF DNAJ-LIKE PROTEIN 1; JDD1;; KIAA0974
Asterisk 611207 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 1; DNAJC1 HTJ1
Asterisk 611208 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN L-LIKE; HNRNPLL HNRPLL;; STROMAL RNA-REGULATING FACTOR; SRRF
Number Sign 611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G CDG IIg; CDGIIg;; CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME
Asterisk 611210 PDZ-BINDING KINASE; PBK LYMPHOKINE-ACTIVATED KILLER T CELL-ORIGINATED PROTEIN KINASE; TOPK
Asterisk 611211 RECEPTOR EXPRESSED IN LYMPHOID TISSUES; RELT TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 19-LIKE; TNFRSF19L
Asterisk 611212 RELT-LIKE 1; RELL1
Asterisk 611213 RELT-LIKE 2; RELL2
Asterisk 611214 TSR1, 20S rRNA ACCUMULATION, S. CEREVISIAE, HOMOLOG OF; TSR1 KIAA1401
Asterisk 611215 PRADER-WILLI REGION NONCODING RNA 1; PWRN1
Asterisk 611216 UBX DOMAIN PROTEIN 4; UBXN4 UBX DOMAIN-CONTAINING PROTEIN 2; UBXD2;; KIAA2042;; ERASIN
Asterisk 611217 PRADER-WILLI REGION NONCODING RNA 2; PWRN2
Asterisk 611218 GASDERMIN A; GSDMA GASDERMIN 1; GSDM1;; GSDM
Asterisk 611219 UNC45, C. ELEGANS, HOMOLOG OF, A; UNC45A SMOOTH MUSCLE CELL-ASSOCIATED PROTEIN 1; SMAP1;; GCUNC45
Asterisk 611220 UNC45, C. ELEGANS, HOMOLOG OF, B; UNC45B SMUNC45
Asterisk 611221 GASDERMIN B; GSDMB GASDERMIN-LIKE; GSDML
Percent 611222 MICROPHTHALMIA, SYNDROMIC 10; MCOPS10 MICROPHTHALMIA AND BRAIN ATROPHY; MOBA
Asterisk 611223 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 3; AKT3 PROTEIN KINASE B, GAMMA; PKBG;; PKB-GAMMA MAGI3/AKT3 FUSION GENE, INCLUDED
Asterisk 611224 SUCCINATE-CoA LIGASE, ALPHA SUBUNIT; SUCLG1 SUCCINATE-CoA LIGASE, GDP-FORMING, ALPHA SUBUNIT;; SUCCINATE-CoA LIGASE, ADP-FORMING, ALPHA SUBUNIT; SUCLA1;; G-ALPHA
Number Sign 611225 SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18 INTELLECTUAL DISABILITY, MOTOR DYSFUNCTION, AND JOINT CONTRACTURES; IDMDC
Asterisk 611226 ARMADILLO REPEAT-CONTAINING PROTEIN 3; ARMC3 KU-CT-1
Asterisk 611227 HYDROGEN VOLTAGE-GATED CHANNEL 1; HVCN1 HV1;; VOLTAGE SENSOR DOMAIN-ONLY PROTEIN; VSOP
Number Sign 611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J
Asterisk 611229 ENDOPLASMIC RETICULUM LECTIN 1; ERLEC1 ERLECTIN;; CHROMOSOME 2 OPEN READING FRAME 30; C2ORF30
Asterisk 611230 NON-SMC CONDENSIN II COMPLEX SUBUNIT H2; NCAPH2 CONDENSIN II COMPLEX, NON-SMC SUBUNIT H2;; CHROMOSOME-ASSOCIATED PROTEIN H2; CAPH2;; KLEISIN, BETA
Asterisk 611231 CLAUDIN 8; CLDN8
Asterisk 611232 CLAUDIN 12; CLDN12
Asterisk 611233 ARGININE-RICH PROTEIN MUTATED IN EARLY STAGE TUMORS-LIKE 1; ARMETL1 CONSERVED DOPAMINE NEUROTROPHIC FACTOR; CDNF
Asterisk 611234 FAMILY WITH SEQUENCE SIMILARITY 84, MEMBER A; FAM84A NEUROLOGIC/SENSORY 1; NSE1
Asterisk 611235 TRANSMEMBRANE PROTEIN 38A; TMEM38A TRIMERIC INTRACELLULAR CATION CHANNEL TYPE A; TRICA;; MITSUGUMIN 33
Asterisk 611236 TRANSMEMBRANE PROTEIN 38B; TMEM38B TRIMERIC INTRACELLULAR CATION CHANNEL TYPE B; TRICB
Asterisk 611237 BTB/POZ DOMAIN-CONTAINING PROTEIN 9; BTBD9 KIAA1880
Asterisk 611238 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 7; CHCHD7 CHCHD7/PLAG1 FUSION GENE, INCLUDED
Asterisk 611239 G PROTEIN-REGULATED INDUCER OF NEURITE OUTGROWTH 1; GPRIN1 GRIN1;; KIAA1893
Asterisk 611240 G PROTEIN-REGULATED INDUCER OF NEURITE OUTGROWTH 2; GPRIN2 GRIN2;; KIAA0514
Asterisk 611241 G PROTEIN-REGULATED INDUCER OF NEURITE OUTGROWTH 3; GPRIN3 GRIN3
Percent 611242 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 5; RLS5
Asterisk 611243 tRNA-WYBUTOSINE-SYNTHESIZING PROTEIN 1, S. CEREVISIAE, HOMOLOG OF; TYW1 tRNA-YW-SYNTHESIZING PROTEIN 1, S. CEREVISIAE, HOMOLOG OF
Asterisk 611244 tRNA METHYLTRANSFERASE 12, S. CEREVISIAE, HOMOLOG OF; TRMT12 TRM12;; tRNA-WYBUTOSINE-SYNTHESIZING PROTEIN 2, S. CEREVISIAE, HOMOLOG OF; TYW2;; tRNA-YW-SYNTHESIZING PROTEIN 2, S. CEREVISIAE, HOMOLOG OF
Asterisk 611245 tRNA-WYBUTOSINE-SYNTHESIZING PROTEIN 3, S. CEREVISIAE, HOMOLOG OF; TYW3 tRNA-YW-SYNTHESIZING PROTEIN 3, S. CEREVISIAE, HOMOLOG OF
Asterisk 611246 LEUCINE CARBOXYL METHYLTRANSFERASE 2; LCMT2 tRNA-WYBUTOSINE-SYNTHESIZING PROTEIN 4, S. CEREVISIAE, HOMOLOG OF; TYW4;; tRNA-YW-SYNTHESIZING PROTEIN 4, S. CEREVISIAE, HOMOLOG OF;; KIAA0547
Percent 611247 MAJOR AFFECTIVE DISORDER 4; MAFD4 BIPOLAR AFFECTIVE DISORDER; BPAD
Asterisk 611248 KELCH DOMAIN-CONTAINING PROTEIN 3; KLHDC3 PEAS
Asterisk 611249 MICRO RNA LET7B; MIRLET7B LET7, C. ELEGANS, HOMOLOG OF, B; LET7B;; miRNA LET7B;; MIRNLET7B
Asterisk 611250 MICRO RNA LET7E; MIRLET7E LET7, C. ELEGANS, HOMOLOG OF, E; LET7E;; miRNA LET7E;; MIRNLET7E
Asterisk 611251 PATCHED DOMAIN-CONTAINING PROTEIN 2; PTCHD2 DISPATCHED, DROSOPHILA, HOMOLOG OF, 3; DISP3;; KIAA1337
Percent 611252 SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE; SPG32
Asterisk 611253 KINESIN FAMILY MEMBER 27; KIF27
Asterisk 611254 KINESIN FAMILY MEMBER 7; KIF7
Asterisk 611255 NADPH OXIDASE ACTIVATOR 1; NOXA1 NOX ACTIVATOR 1;; p51-NOX
Asterisk 611256 NADPH OXIDASE ORGANIZER 1; NOXO1 p41-NOX
Asterisk 611257 TRANSMEMBRANE PROTEIN 132D; TMEM132D KIAA1944;; MATURE OLIGODENDROCYTE TRANSMEMBRANE PROTEIN; MOLT
Asterisk 611258 TUDOR DOMAIN-CONTAINING PROTEIN 7; TDRD7 KIAA1529;; PCTAIRE2-BINDING PROTEIN;; TUDOR REPEAT ASSOCIATOR WITH PCTAIRE2; TRAP
Asterisk 611259 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1-LIKE 1; CDKAL1
Asterisk 611260 THREONINE SYNTHASE-LIKE 1; THNSL1 TSH1
Asterisk 611261 THREONINE SYNTHASE-LIKE 2; THNSL2 THS2
Asterisk 611262 DEOXYHYPUSINE HYDROXYLASE; DOHH DEOXYHYPUSINE MONOOXYGENASE;; DEOXYHYPUSINE DIOXYGENASE;; HEAT-LIKE REPEAT-CONTAINING PROTEIN 1; HLRC1
Number Sign 611263 SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2 ASPHYXIATING THORACIC DYSTROPHY 2; ATD2
Asterisk 611264 CENTROMERIC PROTEIN W; CENPW CHROMOSOME 6 OPEN READING FRAME 173; C6ORF173;; CANCER-UPREGULATED GENE 2; CUG2
Asterisk 611265 PEROXISOMAL PROLIFERATOR-ACTIVATED RECEPTOR ALPHA-INTERACTING COFACTOR COMPLEX, 285-KD SUBUNIT KIAA1769;; PRIC COMPLEX, 285-KD SUBUNIT; PRIC285;; PPAR-GAMMA DNA-BINDING DOMAIN-INTERACTING PROTEIN 1; PDIP1;; PDIP1-ALPHA;; PDIP1-BETA
Asterisk 611266 POTE ANKYRIN DOMAIN FAMILY, MEMBER K, PSEUDOGENE; POTEKP ACTIN, KAPPA ACTIN-LIKE PROTEIN;; FKSG30
Asterisk 611267 OLFACTORY RECEPTOR, FAMILY 51, SUBFAMILY E, MEMBER 1; OR51E1 DGPCR;; PROSTATE-SPECIFIC G PROTEIN-COUPLED RECEPTOR 2; PSGR2
Asterisk 611268 OLFACTORY RECEPTOR, FAMILY 51, SUBFAMILY E, MEMBER 2; OR51E2 PROSTATE-SPECIFIC G PROTEIN-COUPLED RECEPTOR; PSGR
Asterisk 611269 NUCLEOLAR PROTEIN WITH MIF4G DOMAIN 1; NOM1 CHROMOSOME 7 OPEN READING FRAME 3; C7ORF3
Asterisk 611270 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, BETA; NAPB SOLUBLE NSF-ATTACHMENT PROTEIN, BETA; SNAPB;; SNAP, BETA
Asterisk 611271 KINESIN FAMILY MEMBER 18A; KIF18A MARROW STROMAL KIF18A; MS-KIF18A
Asterisk 611272 ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 5; ZKSCAN5 ZINC FINGER PROTEIN 95; ZFP95;; KIAA1015
Asterisk 611273 LBX1 COREPRESSOR 1, MOUSE, HOMOLOG OF; LBXCOR1 CORL1
Percent 611274 GLAUCOMA 1, OPEN ANGLE, N; GLC1N
Asterisk 611275 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 2-LIKE; BNIPL BNIP2-SIMILAR; BNIPS;; BNIPL1;; BNIPL2
Percent 611276 GLAUCOMA 1, OPEN ANGLE, H; GLC1H
Number Sign 611277 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3 GEFS+, TYPE 3; GEFS+3 FEBRILE SEIZURES, FAMILIAL, 8, INCLUDED; FEB8, INCLUDED
Asterisk 611278 KINESIN FAMILY MEMBER 12; KIF12
Asterisk 611279 KINESIN FAMILY MEMBER 14; KIF14 KIAA0042
Asterisk 611280 KELCH DOMAIN-CONTAINING PROTEIN 2; KLHDC2 HOST CELL FACTOR-LIKE PROTEIN 1; HCLP1
Asterisk 611281 KELCH DOMAIN-CONTAINING PROTEIN 1; KLHDC1
Asterisk 611282 DYNAMIN-BINDING PROTEIN; DNMBP TUBA;; KIAA1010
Number Sign 611283 ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY IBD DEFICIENCY;; ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8, DEFICIENCY OF;; ACAD8 DEFICIENCY
Percent 611284 DYSTONIA, FOCAL, TASK-SPECIFIC; FTSD MUSICIAN'S DYSTONIA, INCLUDED
Asterisk 611285 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 5; KCTD5
Asterisk 611286 RNA TERMINAL PHOSPHATE CYCLASE DOMAIN-CONTAINING PROTEIN 1; RTCD1 RTC DOMAIN-CONTAINING PROTEIN 1;; RNA 3-PRIME-TERMINAL PHOSPHATE CYCLASE: RPC
Asterisk 611287 CORNICHON, DROSOPHILA, HOMOLOG OF; CNIH CNIH1;; T-CELL GROWTH-ASSOCIATED MOLECULE 77; TGAM77
Asterisk 611288 CORNICHON, DROSOPHILA, HOMOLOG OF, 2; CNIH2 CNI-LIKE; CNIL
Asterisk 611289 LEUCINE-RICH ALPHA-2-GLYCOPROTEIN 1; LRG1 LRG
Asterisk 611290 NONHOMOLOGOUS END-JOINING FACTOR 1; NHEJ1 XRCC4-LIKE FACTOR; XLF;; CERNUNNOS;; NEJ1, S. CEREVISIAE, HOMOLOG OF
Number Sign 611291 SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION;; NHEJ1 SYNDROME SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED;; SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED
Asterisk 611292 CLAVESIN 1; CLVS1 CLATHRIN VESICLE-ASSOCIATED SEC14 PROTEIN 1;; RETINALDEHYDE-BINDING PROTEIN 1-LIKE 1; RLBP1L1;; CELLULAR RETINALDEHYDE-BINDING PROTEIN-LIKE; CRALBPL
Asterisk 611293 COILED-COIL DOMAIN-CONTAINING PROTEIN 86; CCDC86 CYTOKINE-INDUCED PROTEIN WITH COILED-COIL DOMAIN; CYCLON
Asterisk 611294 ONE CUT HOMEOBOX 3; ONECUT3 ONE CUT DOMAIN, FAMILY MEMBER 3; OC3
Asterisk 611295 KELCH-LIKE 24; KLHL24 KAINATE RECEPTOR-INTERACTING PROTEIN FOR GLUR6; KRIP6
Asterisk 611296 ANNEXIN A2 RECEPTOR; ANXA2R CHROMOSOME 5 OPEN READING FRAME 39; C5ORF39;; ANNEXIN II RECEPTOR;; AXIIR
Asterisk 611297 ODD-SKIPPED-RELATED 2; OSR2
Asterisk 611298 KIAA1324 ESTROGEN-INDUCED GENE 121; EIG121
Asterisk 611299 G2/M PHASE-SPECIFIC E3 UBIQUITIN LIGASE; G2E3 KIAA1333
Asterisk 611300 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 6; LARP6 ACHERON; ACHN
Asterisk 611301 CHROMOSOME 17 OPEN READING FRAME 70; C17ORF70 FANCONI ANEMIA-ASSOCIATED PROTEIN, 100-KD SUBUNIT; FAAP100
Number Sign 611302 SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2
Asterisk 611303 C-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A KIAA0350
Asterisk 611304 TRANSMEMBRANE PROTEIN 159; TMEM159 PROMETHIN
Asterisk 611305 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 3; ABLIM3 KIAA0843
Asterisk 611306 SCAVENGER RECEPTOR CLASS A, MEMBER 5; SCARA5
Number Sign 611307 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L; LGMD2L
Percent 611308 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL DOMINANT; PHPVAD
Asterisk 611309 CHROMOSOME 10 OPEN READING FRAME 10; C10ORF10 DECIDUAL PROTEIN INDUCED BY PROGESTERONE; DEPP;; FASTING-INDUCED GENE; FIG
Asterisk 611310 PHOSPHOSERYL-tRNA KINASE; PSTK CHROMOSOME 10 OPEN READING FRAME; C10ORF89
Caret 611311 MOVED TO 221900
Asterisk 611312 CORNULIN; CRNN CHROMOSOME 1 OPEN READING FRAME 10; C1ORF10;; PDRC1
Asterisk 611313 ARMS2 GENE; ARMS2 LOC387715
Asterisk 611314 HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 2 PSEUDOGENE 46; HMGN2P46 HMGN2 PSEUDOGENE 46;; CHROMOSOME 15 OPEN READING FRAME 21; C15ORF21;; DPCA2
Asterisk 611315 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 20; ZSCAN20 ZINC FINGER PROTEIN 31; ZNF31;; KOX29
Asterisk 611316 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 8; SLC12A8
Asterisk 611317 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 5; PIK3R5 p101
Asterisk 611318 MEDIATOR COMPLEX SUBUNIT 12-LIKE; MED12L NO OPPOSITE-PAIRED REPEAT; NOPAR;; KIAA1635
Asterisk 611319 INTERFERON-ALPHA-INDUCIBLE PROTEIN 27-LIKE 2; IFI27L2 INTERFERON-STIMULATED GENE 12B; ISG12B;; FAMILY WITH SEQUENCE SIMILARITY 14, MEMBER A; FAM14A
Asterisk 611320 FAMILY WITH SEQUENCE SIMILARITY 14, MEMBER B; FAM14B INTERFERON-STIMULATED GENE 12C; ISG12C
Asterisk 611321 CALSYNTENIN 1; CLSTN1 ALCADEIN, ALPHA;; ALC-ALPHA;; KIAA0911
Asterisk 611322 DNAJ/HSP40 HOMOLOG, SUBFAMILY A, MEMBER 2; DNAJA2 DJ3;; CELL CYCLE PROGRESSION RESTORATION 3; CPR3
Asterisk 611323 CALSYNTENIN 2; CLSTN2 ALCADEIN, GAMMA;; ALC-GAMMA
Asterisk 611324 CALSYNTENIN 3; CLSTN3 ALCADEIN, BETA;; ALC-BETA;; KIAA0726
Asterisk 611325 TRANSFORMING GROWTH FACTOR-BETA REGULATOR 4; TBRG4 FAST KINASE DOMAIN-CONTAINING PROTEIN 4; FASTKD4;; KIAA0948;; CELL CYCLE PROGRESSION RESTORATION 2; CPR2
Asterisk 611326 CELL CYCLE PROGRESSION 1; CCPG1 KIAA1254;; CELL CYCLE PROGRESSION RESTORATION 8; CPR8
Asterisk 611327 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 4; DNAJB4 HUMAN LIVER DNAJ-LIKE; HLJ1
Asterisk 611328 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 5; DNAJB5 KIAA1045;; HEAT SHOCK COGNATE 40; HSC40
Asterisk 611329 SMALL CAJAL BODY-SPECIFIC RNA 18; SCARNA18 snoRNA, U109
Asterisk 611330 SMALL NUCLEOLAR RNA, H/ACA BOX, 12; SNORA12 snoRNA, U108
Asterisk 611331 SMALL NUCLEOLAR RNA, H/ACA BOX, 74B; SNORA74B snoRNA, U19-2
Asterisk 611332 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 6; DNAJB6 MRJ;; DJ4
Asterisk 611333 SMALL NUCLEOLAR RNA, H/ACA BOX, 3B; SNORA3B SMALL NUCLEOLAR RNA, H/ACA BOX, 45; SNORA45;; snoRNA, ACA3-2
Asterisk 611334 SMALL NUCLEOLAR RNA, H/ACA BOX, 81; SNORA81 snoRNA, HBI-61
Asterisk 611335 SMALL NUCLEOLAR RNA, H/ACA BOX, 5C; SNORA5C snoRNA, HBI-80
Asterisk 611336 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 7; DNAJB7 DJ5;; HSC3
Asterisk 611337 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 8; DNAJB8 DJ6
Asterisk 611338 AUTOPHAGY 4, S. CEREVISIAE, HOMOLOG OF, B; ATG4B APG4, S. CEREVISIAE, HOMOLOG OF, B; APG4B;; AUTOPHAGIN 1;; AUTL1;; KIAA0943
Asterisk 611339 AUTOPHAGY 4, S. CEREVISIAE, HOMOLOG OF, C; ATG4C APG4, S. CEREVISIAE, HOMOLOG OF, C; APG4C;; AUTOPHAGIN 3;; AUTL3
Asterisk 611340 AUTOPHAGY 4, S. CEREVISIAE, HOMOLOG OF, D; ATG4D APG4, S. CEREVISIAE, HOMOLOG OF, D; APG4D;; AUTOPHAGIN 4;; AUTL4
Asterisk 611341 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 11; DNAJB11 HUMAN ENDOPLASMIC RETICULUM-ASSOCIATED DNAJ; HEDJ;; DJ9;; APOBEC1-BINDING PROTEIN 2; ABBP2
Asterisk 611342 CHROMOSOME 9 OPEN READING FRAME 64; C9ORF64
Asterisk 611343 CHROMOSOME 9 OPEN READING FRAME 103; C9ORF103
Asterisk 611344 RAS AND EF-HAND DOMAINS-CONTAINING PROTEIN; RASEF
Asterisk 611345 INTEGRATOR COMPLEX SUBUNIT 1; INTS1 INT1;; KIAA1440
Asterisk 611346 INTEGRATOR COMPLEX SUBUNIT 2; INTS2 INT2;; KIAA1287
Asterisk 611347 INTEGRATOR COMPLEX SUBUNIT 3; INTS3 INT3;; SENSOR OF SINGLE-STRANDED DNA COMPLEX, SUBUNIT A; SOSSA;; SOSS COMPLEX, SUBUNIT A
Asterisk 611348 INTEGRATOR COMPLEX SUBUNIT 4; INTS4 INT4
Asterisk 611349 INTEGRATOR COMPLEX SUBUNIT 5; INTS5 INT5;; KIAA1698
Asterisk 611350 INTEGRATOR COMPLEX SUBUNIT 7; INTS7 INT7
Asterisk 611351 INTEGRATOR COMPLEX SUBUNIT 8; INTS8 INT8
Asterisk 611352 INTEGRATOR COMPLEX SUBUNIT 9; INTS9 INT9;; RELATED TO CPSF SUBUNITS, 74-KD PROTEIN; RC74
Asterisk 611353 INTEGRATOR COMPLEX SUBUNIT 10; INTS10 INT10
Asterisk 611354 CLEAVAGE AND POLYADENYLATION-SPECIFIC FACTOR 3-LIKE; CPSF3L INTEGRATOR COMPLEX SUBUNIT 11; INTS11;; RELATED TO CPSF SUBUNITS, 68-KD PROTEIN; RC68
Asterisk 611355 INTEGRATOR COMPLEX SUBUNIT 12; INTS12 INT12
Asterisk 611356 G KINASE-ANCHORING PROTEIN 1; GKAP1 cGMP-DEPENDENT PROTEIN KINASE-ANCHORING PROTEIN, 42-KD; GKAP42
Asterisk 611357 FAMILY WITH SEQUENCE SIMILARITY 46, MEMBER A; FAM46A CHROMOSOME 6 OPEN READING FRAME 37; C6ORF37
Asterisk 611358 RING FINGER PROTEIN 135; RNF135 RIPLET
Asterisk 611359 ACTIVATING MOLECULE IN BECLIN 1-REGULATED AUTOPHAGY; AMBRA1 DDB1- AND CUL4-ASSOCIATED FACTOR 3; DCAF3;; KIAA1736
Asterisk 611360 FANCI GENE; FANCI KIAA1794
Asterisk 611361 UBIQUITIN-ACTIVATING ENZYME E1-LIKE 2; UBE1L2 UBIQUITIN-ACTIVATING ENZYME 6; UBA6
Asterisk 611362 UBIQUITIN-CONJUGATING ENZYME E2Z; UBE2Z UBA6-SPECIFIC E2; USE1
Number Sign 611363 ATRIAL SEPTAL DEFECT 4; ASD4
Percent 611364 MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4; EJM4
Asterisk 611365 TRANSMEMBRANE PROTEIN 183B; TMEM183B C1ORF37DUP
Asterisk 611366 CHROMOSOME 12 OPEN READING FRAME 10; C12ORF10 MELANOCYTE PROLIFERATING GENE 1, MOUSE, HOMOLOG OF; MYG1
Asterisk 611367 ASPARTYL AMINOPEPTIDASE; DNPEP ASPEP; DAP
Asterisk 611368 MAELSTROM, DROSOPHILA, HOMOLOG OF; MAEL
Number Sign 611369 LETHAL CONGENITAL CONTRACTURE SYNDROME 3; LCCS3 MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE B
Asterisk 611370 FGGY CARBOHYDRATE KINASE DOMAIN-CONTAINING PROTEIN; FGGY FLJ10986
Asterisk 611371 ZINC FINGER PROTEIN 653; ZNF653 ZIP67
Asterisk 611372 SMALL ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 1; SMAP1 SMALL ARFGAP 1;; STROMAL MEMBRANE-ASSOCIATED PROTEIN 1
Asterisk 611373 LIVER-EXPRESSED ANTIMICROBIAL PEPTIDE 2; LEAP2
Asterisk 611374 MICRO RNA 34B; MIR34B miRNA34B;; MIRN34B
Asterisk 611375 MICRO RNA 34C; MIR34C miRNA34C;; MIRN34C
Percent 611376 MUNGAN SYNDROME; MGS VISCERAL NEUROMYOPATHY, FAMILIAL, WITH PSEUDOOBSTRUCTION, MEGADUODENUM, BARRETT ESOPHAGUS, AND CARDIAC ABNORMALITIES;; PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, WITH BARRETT ESOPHAGUS AND CARDIAC ABNORMALITIES
Number Sign 611377 BRACHYDACTYLY, TYPE B2; BDB2
Number Sign 611378 MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9
Asterisk 611379 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, B; DIP2B KIAA1463
Asterisk 611380 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, C; DIP2C KIAA0934
Percent 611381 KALA-AZAR, SUSCEPTIBILITY TO, 2; KAZA2 LEISHMANIASIS, VISCERAL, SUSCEPTIBILITY TO, 2
Percent 611382 KALA-AZAR, SUSCEPTIBILITY TO, 3; KAZA3 LEISHMANIASIS, VISCERAL, SUSCEPTIBILITY TO, 3
Number Sign 611383 USHER SYNDROME, TYPE IID; USH2D
Percent 611384 PLASMODIUM FALCIPARUM FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1 PFFE1;; MALARIA FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1
Caret 611385 MOVED TO 176846
Asterisk 611386 ACTIVITY-DEPENDENT NEUROPROTECTOR HOMEOBOX; ADNP ADNP1;; KIAA0784
Asterisk 611387 CXC CHEMOKINE LIGAND 17; CXCL17 VEGF COREGULATED CHEMOKINE 1; VCC1;; DENDRITIC CELL AND MONOCYTE CHEMOKINE-LIKE PROTEIN; DMC
Asterisk 611388 DEOXYNUCLEOTIDYLTRANSFERASE, TERMINAL, INTERACTING PROTEIN 1; DNTTIP1 TDT-INTERACTING FACTOR; TDIF1;; CHROMOSOME 20 OPEN READING FRAME 167; C20ORF167
Asterisk 611389 PRICKLE, DROSOPHILA, HOMOLOG OF, 4; PRICKLE4 PRICKLE-LIKE 4;; CHROMOSOME 6, OPEN READING FRAME 49; C6ORF49;; OVEREXPRESSED BREAST TUMOR PROTEIN; OEBT; OBTP
Number Sign 611390 SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3 AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY; ARSAL
Number Sign 611391 CATARACT 33, MULTIPLE TYPES; CTRCT33
Asterisk 611392 2-AMINOETHANETHIOL DIOXYGENASE; ADO CHROMOSOME 10 OPEN READING FRAME 22; C10ORF22;; CYSTEAMINE DIOXYGENASE
Asterisk 611393 FAMILY WITH SEQUENCE SIMILARITY 110, MEMBER A; FAM110A CHROMOSOME 20 OPEN READING FRAME 55; C20ORF55
Asterisk 611394 FAMILY WITH SEQUENCE SIMILARITY 110, MEMBER B; FAM110B CHROMOSOME 8 OPEN READING FRAME 72; C8ORF72
Asterisk 611395 FAMILY WITH SEQUENCE SIMILARITY 110, MEMBER C; FAM110C
Asterisk 611396 ADIPOGENIN; ADIG SMALL ADIPOCYTE FACTOR 1; SMAF1
Asterisk 611397 TETRATRICOPEPTIDE REPEAT-, ANKYRIN REPEAT-, AND COILED-COIL-CONTAINING PROTEIN 1; TANC1 TPR DOMAIN-, ANKYRIN REPEAT-, AND COILED-COIL-CONTAINING PROTEIN; TANC;; KIAA1728
Asterisk 611398 GROWTH ARREST-SPECIFIC 2-LIKE 2; GAS2L2 GAS2-RELATED PROTEIN;; GAS2-RELATED ON CHROMOSOME 17; GAR17
Asterisk 611399 SODIUM CHANNEL AND CLATHRIN LINKER 1; SCLT1 CLATHRIN-ASSOCIATED PROTEIN 1A; CAP1A
Asterisk 611400 HOX TRANSCRIPT ANTISENSE RNA, NONCODING; HOTAIR HOX ANTISENSE INTERGENIC RNA;; LONG INTERGENIC NONCODING RNA HOTAIR;; lincRNA HOTAIR
Asterisk 611401 CHROMOSOME 6 OPEN READING FRAME 15; C6ORF15 SIMIAN TASTE BUD-SPECIFIC GENE; STG
Asterisk 611402 DOCKING PROTEIN 6; DOK6
Percent 611403 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6 ASRT6
Asterisk 611404 CHROMOSOME 6 OPEN READING FRAME 21; C6ORF21 G6F PROTEIN
Asterisk 611405 RNA TERMINAL PHOSPHATE CYCLASE-LIKE 1; RCL1 RPCL1;; RNAC
Asterisk 611406 DYNEIN, CYTOPLASMIC 1, LIGHT INTERMEDIATE CHAIN 2; DYNC1LI2 LIC2
Number Sign 611407 CARDIOMYOPATHY, DILATED, 1W; CMD1W
Asterisk 611408 LCA5 GENE; LCA5 LEBERCILIN;; CHROMOSOME 6 OPEN READING FRAME 152; C6ORF152
Asterisk 611409 OCA2 MELANOSOMAL TRANSMEMBRANE PROTEIN; OCA2 OCA2 GENE;; PINK-EYED DILUTION; PED;; P GENE
Asterisk 611410 FAMILY WITH SEQUENCE SIMILARITY 65, MEMBER B; FAM65B CHROMOSOME 6 OPEN READING FRAME 32; C6ORF32;; KIAA0386;; PL48
Asterisk 611411 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE KINASE 1, ALPHA; CAMKK1 CAMKK-ALPHA; CAMKKA
Asterisk 611412 N-ACETYLNEURAMINATE PYRUVATE LYASE; NPL CHROMOSOME 1 OPEN READING FRAME 13; C1ORF13;; DIHYDRODIPICOLINATE SYNTHASE;; C112
Asterisk 611413 DISCS LARGE-ASSOCIATED PROTEIN 3; DLGAP3 SAP90/PSD95-ASSOCIATED PROTEIN 3; SAPAP3
Asterisk 611414 CALRETICULIN 3; CALR3 CALRETICULIN 2; CRT2
Asterisk 611415 POLYMERASE (DNA-DIRECTED), DELTA 3, ACCESSORY SUBUNIT; POLD3 KIAA0039;; P66
Asterisk 611416 TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 3; TOX3 TRINUCLEOTIDE REPEAT-CONTAINING 9; TNRC9;; CAGF9
Asterisk 611417 SMALL G PROTEIN SIGNALING MODULATOR 1; SGSM1 KIAA1941
Asterisk 611418 SMALL G PROTEIN SIGNALING MODULATOR 2; SGSM2 KIAA0397
Asterisk 611419 CHROMOSOME 6 OPEN READING FRAME 1; C6ORF1 LBH
Asterisk 611420 CDKN1A-INTERACTING ZINC FINGER PROTEIN 1; CIZ1 CIP1-INTERACTING ZINC FINGER PROTEIN;; ZINC FINGER PROTEIN 356; ZNF356;; LSFR1;; NP94
Asterisk 611421 SNF2-RELATED CBP ACTIVATOR PROTEIN; SRCAP SWR1, S. CEREVISIAE, HOMOLOG OF; SWR1;; KIAA0309
Asterisk 611422 MEIOTIC NUCLEAR DIVISION 1, S. CEREVISIAE, HOMOLOG OF; MND1
Asterisk 611423 CENTROSOMAL PROTEIN, 135-KD; CEP135 KIAA0635
Asterisk 611424 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 19; ZMYND19 MCHR1-INTERACTING ZINC FINGER PROTEIN; MIZIP
Asterisk 611425 CENTROSOMAL BRCA2-INTERACTING PROTEIN; CNTROB CENTROBIN;; LYST-INTERACTING PROTEIN LIP8; LIP8
NULL 611426 TENTED EYEBROWS
Asterisk 611427 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1-LIKE, NADP(+)-DEPENDENT; MTHFD1L MITOCHONDRIAL C1-TETRAHYDROFOLATE SYNTHASE; MTC1THFS
Asterisk 611428 DOWNSTREAM NEIGHBOR OF SON; DONSON CHROMOSOME 21 OPEN READING FRAME 60; C21ORF60;; B17
Asterisk 611429 CHROMOSOME 3 OPEN READING FRAME 35; C3ORF35 AP20 REGION PROTEIN 1; APRG1
Asterisk 611430 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 21A; TTC21A STRESS-INDUCIBLE PROTEIN 2; STI2
Number Sign 611431 LEGIUS SYNDROME NEUROFIBROMATOSIS TYPE 1-LIKE SYNDROME; NFLS
Asterisk 611432 DEDICATOR OF CYTOKINESIS 8; DOCK8
Asterisk 611433 SERINE/THREONINE/TYROSINE KINASE 1; STYK1 NOVEL ONCOGENE WITH KINASE DOMAIN; NOK
Asterisk 611434 CYTOKINE-DEPENDENT HEMATOPOIETIC CELL LINKER; CLNK MAST CELL IMMUNORECEPTOR SIGNAL TRANSDUCER; MIST
Asterisk 611435 DOCKING PROTEIN 3; DOK3 DOK-LIKE PROTEIN; DOKL
Asterisk 611436 CARBONIC ANHYDRASE XIII; CA13
Asterisk 611437 DUAL-SPECIFICITY PHOSPHATASE 19; DUSP19 SAPK PATHWAY-REGULATING PHOSPHATASE 1; SKRP1;; DUSP17;; LMWDSP3
Asterisk 611438 TAXILIN, BETA; TXLNB
Asterisk 611439 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 22; ZBTB22 BING1
Asterisk 611440 WD REPEAT-CONTAINING PROTEIN 46; WDR46 BING4
Asterisk 611441 DOUBLE HOMEOBOX PROTEIN 1; DUX1
Asterisk 611442 DOUBLE HOMEOBOX PROTEIN 2; DUX2
Asterisk 611443 DOUBLE HOMEOBOX PROTEIN 3; DUX3
Asterisk 611444 DOUBLE HOMEOBOX PROTEIN 5; DUX5
Asterisk 611445 DYNAMIN 3; DNM3 KIAA0820
Asterisk 611446 DUAL-SPECIFICITY PHOSPHATASE 18; DUSP18 LMWDSP20
Asterisk 611447 Y BOX-BINDING PROTEIN 2; YBX2 MSY2;; CSDA3;; CONTRIN;; DNA-BINDING PROTEIN C; DBPC
Asterisk 611448 BMS1, RIBOSOME ASSEMBLY PROTEIN, S. CEREVISIAE, HOMOLOG OF; BMS1 RIBOSOME BIOGENESIS PROTEIN BMS1;; BMS1-LIKE; BMS1L;; KIAA0187
Asterisk 611449 EXPORTIN 4; XPO4 EXP4;; KIAA1721
Asterisk 611450 PXK DOMAIN-CONTAINING SERINE/THREONINE KINASE; PXK MODULATOR OF Na,K-ATPase; MONAKA
Number Sign 611451 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
Caret 611452 MOVED TO 278150
Asterisk 611453 DYSBINDIN DOMAIN-CONTAINING 2; DBNDD2 SCF APOPTOSIS RESPONSE PROTEIN 1;; HSMNP1
Caret 611454 MOVED TO 105550
Asterisk 611455 KINOCILIN; KNCN KINO;; L5
Percent 611456 TREMOR, HEREDITARY ESSENTIAL, 3; ETM3
Asterisk 611457 FORKHEAD BOX O6 FOXO6
Asterisk 611458 GALACTOSIDASE, BETA-1; GLB1 BETA-GALACTOSIDASE-1 ELASTIN-BINDING PROTEIN, INCLUDED; EBP, INCLUDED;; S-GAL, INCLUDED;; ELASTIN RECEPTOR 1, INCLUDED
Asterisk 611459 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 7; SLC10A7
Asterisk 611460 TUMOR PROTEIN p63-REGULATED PROTEIN 1-LIKE; TPRG1L TPRG1-LIKE;; FAMILY WITH SEQUENCE SIMILARITY 79, MEMBER A; FAM79A;; MOVER
Asterisk 611461 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 17; SLC22A17 NEUTROPHIL GELATINASE-ASSOCIATED LIPOCALCIN RECEPTOR; NGALR;; BRAIN-TYPE ORGANIC ION TRANSPORTER; BOCT; BOIT NGALR2, INCLUDED;; NGALR3, INCLUDED
Asterisk 611462 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 6; PIK3R6 CHROMOSOME 17 OPEN READING FRAME 38; C17ORF38;; PHOSPHOINOSITIDE 3-KINASE-GAMMA ADAPTOR PROTEIN, 87-KD;; p87-PIKAP
Asterisk 611463 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 2; SAT2 SSAT2;; THIALYSINE N-EPSILON-ACETYLTRANSFERASE
Asterisk 611464 MON1, S. CEREVISIAE, HOMOLOG OF, A; MON1A SAND1
Number Sign 611465 GALLBLADDER DISEASE 4; GBD4
Asterisk 611466 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 1; PLEKHM1 ADAPTOR PROTEIN, 162-KD; AP162;; KIAA0356
Asterisk 611467 GUANYLATE-BINDING PROTEIN 5: GBP5 GUANYLATE-BINDING PROTEIN 5, MOUSE, HOMOLOG OF
Asterisk 611468 BDNF ANTISENSE RNA; BDNFAS BRAIN-DERIVED NEUROTROPHIC FACTOR, OPPOSITE STRAND; BDNFOS;; ANTI-BDNF
Percent 611469 COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 8q24
Asterisk 611470 GLUTAMATE-AMMONIA LIGASE (GLUTAMINE SYNTHETASE) DOMAIN-CONTAINING 1; GLULD1 LENGSIN; LGS
Asterisk 611471 ACID PHOSPHATASE 6, LYSOPHOSPHATIDE; ACP6 LYSOPHOSPHATIDIC ACID-SPECIFIC PHOSPHATASE; LPAP;; ACID PHOSPHATASE-LIKE 1; ACPL1
Asterisk 611472 METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5 KIAA1461
Asterisk 611473 EMBRYONIC STEM CELL-RELATED PROTEIN HESRG
Asterisk 611474 HRAS-LIKE SUPPRESSOR FAMILY, MEMBER 5; HRASLS5 LECITHIN-RETINOL ACYLTRANSFERASE-LIKE PROTEIN 1; RLP1;; H-REV107-LIKE PROTEIN 5; HRLP5
Asterisk 611475 RNA POLYMERASE II-ASSOCIATED PROTEIN 1; RPAP1 KIAA1403
Asterisk 611476 RNA POLYMERASE II-ASSOCIATED PROTEIN 2; RPAP2 CHROMOSOME 1 OPEN READING FRAME 82; C1ORF82
Asterisk 611477 RNA POLYMERASE II-ASSOCIATED PROTEIN 3; RPAP3
Asterisk 611478 METHYLPHOSPHATE CAPPING ENZYME; MEPCE BICOID-INTERACTING 3, DROSOPHILA, HOMOLOG OF; BCDIN3
Asterisk 611479 XPA-BINDING PROTEIN 1; XAB1 MBD2-INTERACTING PROTEIN; MBDIN
Asterisk 611480 PIH1 DOMAIN-CONTAINING PROTEIN 1; PIH1D1 NOP17, S. CEREVISIAE, HOMOLOG OF; NOP17
Asterisk 611481 UFM1-SPECIFIC PEPTIDASE 1; UFSP1 UFM1-SPECIFIC PROTEASE 1
Asterisk 611482 UFM1-SPECIFIC PEPTIDASE 2; UFSP2 UFM1-SPECIFIC PROTEASE 2;; CHROMOSOME 4 OPEN READING FRAME 20; C4ORF20
Asterisk 611483 YIP1 DOMAIN FAMILY, MEMBER 5; YIPF5 SMOOTH MUSCLE CELL-ASSOCIATED PROTEIN 5; SMAP5;; YIP1A
Asterisk 611484 YIP1-INTERACTING FACTOR, S. CEREVISIAE, HOMOLOG OF, A; YIF1A YIF1
Asterisk 611485 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 12; CYP4F12 CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 12
Asterisk 611486 SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 1; SYCE1
Asterisk 611487 SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 2; SYCE2 CENTRAL ELEMENT SYNAPTONEMAL COMPLEX 1; CESC1
Percent 611488 MACULAR DEGENERATION, AGE-RELATED, 10; ARMD10
Number Sign 611489 CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY CBG DEFICIENCY;; TRANSCORTIN DEFICIENCY CORTICOSTEROID-BINDING GLOBULIN, ELEVATED, INCLUDED
Number Sign 611490 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4 OSTEOPETROSIS, INFANTILE MALIGNANT 2
Asterisk 611491 RAS ASSOCIATION AND DILUTE DOMAINS PROTEIN; RADIL RAP GTPase INTERACTOR;; KIAA1849
Asterisk 611492 CARBONIC ANHYDRASE II; CA2 CA II;; CARBONIC ANHYDRASE B;; CARBONIC ANHYDRASE C, FORMERLY
Number Sign 611493 ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4
Percent 611494 ATRIAL FIBRILLATION, FAMILIAL, 5; ATFB5
Asterisk 611495 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 22; CYP4F22 CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 22
Asterisk 611496 GATA-BINDING PROTEIN 5; GATA5
Number Sign 611497 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6 OSTEOPETROSIS, AUTOSOMAL RECESSIVE, INTERMEDIATE FORM
Number Sign 611498 NEPHRONOPHTHISIS 7; NPHP7
Asterisk 611499 BETA-GLUCURONIDASE; GUSB
Asterisk 611500 MICRO RNA 219-1; MIR219-1 miRNA219-1;; MIRN219-1
Asterisk 611501 CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 1; CAMTA1 KIAA0833
Asterisk 611502 CENTROMERIC PROTEIN K; CENPK SOLT
Asterisk 611503 CENTROMERIC PROTEIN L; CENPL
Asterisk 611504 CENTROMERIC PROTEIN O; CENPO
Asterisk 611505 CENTROMERIC PROTEIN P; CENPP
Asterisk 611506 CENTROMERIC PROTEIN Q; CENPQ
Asterisk 611507 CDGSH IRON SULFUR DOMAIN PROTEIN 2; CISD2 MITONEET-RELATED 1; MINER1;; ZINC FINGER PROTEIN ZCD2; ZCD2;; ENDOPLASMIC RETICULUM INTERMEMBRANE SMALL PROTEIN; ERIS;; NUTRIENT DEPRIVATION AUTOPHAGY FACTOR 1; NAF1
Asterisk 611508 CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 2; CAMTA2 KIAA0909
Asterisk 611509 CENTROMERIC PROTEIN N; CENPN
Asterisk 611510 CENTROMERIC PROTEIN T; CENPT
Asterisk 611511 MLF1-INTERACTING PROTEIN; MLF1IP CENTROMERIC PROTEIN U; CENPU;; CENP50
Asterisk 611512 LYSINE-SPECIFIC DEMETHYLASE 3A; KDM3A K-SPECIFIC DEMETHYLASE 3A;; JMJC DOMAIN-CONTAINING HISTONE DEMETHYLASE 2A; JHDM2A;; TESTIS-SPECIFIC GENE A; TSGA;; KIAA0742;; JUMONJI DOMAIN-CONTAINING PROTEIN 1A, FORMERLY; JMJD1A, FORMERLY
Asterisk 611513 NEUROGENIC DIFFERENTIATION 6; NEUROD6 ATOH2;; MATH2
Asterisk 611514 WNTLESS, DROSOPHILA, HOMOLOG OF; WLS G PROTEIN-COUPLED RECEPTOR 177; GPR177;; EVENNESS INTERRUPTED, DROSOPHILA, HOMOLOG OF; EVI
Percent 611515 FEBRILE SEIZURES, FAMILIAL, 7; FEB7 FEBRILE CONVULSIONS, FAMILIAL, 7; FEB7
Asterisk 611516 NICOLIN 1; NICN1
Asterisk 611517 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 11; CYP4F11 CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 11
Asterisk 611518 DEDICATOR OF CYTOKINESIS 10; DOCK10 KIAA0694;; ZIZIMIN 3; ZIZ3
Asterisk 611519 POLYMERASE DELTA-INTERACTING PROTEIN 2; POLDIP2 PDIP38
Asterisk 611520 POLYMERASE DELTA-INTERACTING PROTEIN 3; POLDIP3 S6K1 ALY/REF-LIKE TARGET; SKAR;; PDIP46
Number Sign 611521 IMMUNODEFICIENCY 35; IMD35 TYROSINE KINASE 2 DEFICIENCY;; TYK2 DEFICIENCY;; HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;; HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE
Percent 611522 INTRAOCULAR PRESSURE QUANTITATIVE TRAIT LOCUS; IOPQTL GLAUCOMA, SUSCEPTIBILITY TO
Number Sign 611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAIN DEFECTS
Asterisk 611524 ARGINYL-tRNA SYNTHETASE 2; RARS2 ARGINYL-tRNA SYNTHETASE, MITOCHONDRIAL;; RARSL
Asterisk 611525 POLYMERASE (DNA-DIRECTED), DELTA 4; POLD4 CDM1, S. POMBE, HOMOLOG OF;; DNA POLYMERASE, DELTA 4, SMALLEST SUBUNIT; POLDS;; P12
Asterisk 611526 NOP14, S. CEREVISIAE, HOMOLOG OF; NOP14 NUCLEOLAR PROTEIN 14; NOL14;; RES4-25
Asterisk 611527 Na+/H+ EXCHANGER DOMAIN-CONTAINING PROTEIN 1; NHEDC1 SODIUM/HYDROGEN EXCHANGER DOMAIN-CONTAINING PROTEIN 1;; Na+/H+ EXCHANGER PROTEIN
Number Sign 611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 12; ARVC12
Asterisk 611529 CYTOCHROME P450, FAMILY 2, SUBFAMILY S, POLYPEPTIDE 1; CYP2S1 CYTOCHROME P450, SUBFAMILY IIS, POLYPEPTIDE 1
Asterisk 611530 NEUROLYSIN; NLN KIAA1226;; NEUROTENSIN ENDOPEPTIDASE;; ANGIOTENSIN-BINDING PROTEIN; AGTBP
Asterisk 611531 ESSENTIAL FOR MITOTIC GROWTH 1, S. CEREVISIAE, HOMOLOG OF; EMG1 NUCLEOLAR ESSENTIAL PROTEIN 1; NEP1;; C2F
Asterisk 611532 NUCLEOLAR PROTEIN 6; NOL6 NUCLEOLAR RNA-ASSOCIATED PROTEIN; NRAP;; UTP22, S. CEREVISIAE, HOMOLOG OF; UTP22
Asterisk 611533 NUCLEOLAR PROTEIN 7; NOL7 NUCLEOLAR PROTEIN, 27-KD;; RETINOIC ACID REPRESSIBLE PROTEIN
Asterisk 611534 NUCLEOLAR PROTEIN 8; NOL8 NOP132
Percent 611535 MAJOR AFFECTIVE DISORDER 5; MAFD5 BIPOLAR AFFECTIVE DISORDER; BPAD
Percent 611536 MAJOR AFFECTIVE DISORDER 6; MAFD6 BIPOLAR AFFECTIVE DISORDER; BPAD
Asterisk 611537 CATENIN, BETA-LIKE, 1; CTNNBL1 NUCLEAR-ASSOCIATED PROTEIN; NAP NYD-SP19, INCLUDED
Asterisk 611538 OLFACTORY RECEPTOR, FAMILY 7, SUBFAMILY D, MEMBER 4; OR7D4 OLFACTORY RECEPTOR OR19-7;; ODORANT RECEPTOR FAMILY SUBFAMILY D, MEMBER 4RT;; OR19-B
Asterisk 611539 FORKHEAD BOX D3; FOXD3 HFH2;; GENESIS, MOUSE, HOMOLOG OF
Asterisk 611540 SH3-DOMAIN GRB2-LIKE (ENDOPHILIN)-INTERACTING PROTEIN 1; SGIP1
Asterisk 611541 SORTING NEXIN 27; SNX27 METHAMPHETAMINE-RESPONSIVE TRANSCRIPT 1; MRT1
Asterisk 611542 ARYLSULFATASE B; ARSB
Number Sign 611543 CAVITARY OPTIC DISC ANOMALIES; CODA
Number Sign 611544 CATARACT 17, MULTIPLE TYPES; CTRCT17 CATARACT 17, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3
Asterisk 611545 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 8; CYP4F8 CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 8
Asterisk 611546 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 6; ELOVL6 LONG-CHAIN FATTY-ACYL ELONGASE; LCE;; FATTY ACYL-CoA ELONGASE; FACE
Percent 611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9
Number Sign 611548 PREMATURE OVARIAN FAILURE 5; POF5
Asterisk 611549 SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN
Asterisk 611550 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 3; NCR3 1C7;; ACTIVATING NATURAL KILLER RECEPTOR p30; NKp30;; CD337 ANTIGEN; CD337
Asterisk 611551 FIBULIN 7; FBLN7 TM14, MOUSE, HOMOLOG OF
Asterisk 611552 NICOTINATE PHOSPHORIBOSYLTRANSFERASE DOMAIN-CONTAINING 1; NAPRT1 NICOTINIC ACID PHOSPHORIBOSYLTRANSFERASE
Number Sign 611553 NOONAN SYNDROME 5; NS5
Number Sign 611554 LEOPARD SYNDROME 2; LPRD2
NULL 611555 RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE, MENTAL RETARDATION, AND DISTINCTIVE FACIES
Number Sign 611556 GLYCOGEN STORAGE DISEASE 0, MUSCLE; GSD0B GSD 0b;; MUSCLE GLYCOGEN STORAGE DISEASE 0;; MUSCLE GLYCOGEN SYNTHASE DEFICIENCY
Asterisk 611557 UROPLAKIN 1A; UPK1A UPIA
Asterisk 611558 UROPLAKIN 2; UPK2 UP2;; UPII
Asterisk 611559 UROPLAKIN 3A; UPK3A UROPLAKIN 3; UPK3;; UPIII;; UPIIIA
Number Sign 611560 JOUBERT SYNDROME 7; JBTS7
Number Sign 611561 MECKEL SYNDROME, TYPE 5; MKS5
Asterisk 611562 SEPTIN 12; SEPT12
Asterisk 611563 SEPTIN 13; SEPT13
Asterisk 611564 BTG3-ASSOCIATED NUCLEAR PROTEIN; BANP SCAFFOLD/MATRIX-ASSOCIATED REGION 1; SMAR1
Asterisk 611565 KIAA1109 GENE; KIAA1109 TWEEK, DROSOPHILA, HOMOLOG OF; TWEEK
Asterisk 611566 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE 1-LIKE 1; PRPS1L1 PRPS1-LIKE 1;; PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE 3; PRPS3
Asterisk 611567 MACRO DOMAIN-CONTAINING 2; MACROD2 C20ORF133
Asterisk 611568 SYNTABULIN; SYBU GOLGI-LOCALIZED SYNTAPHILIN-RELATED PROTEIN; GOLSYN;; KIAA1472 GOLSYN A, INCLUDED;; GOLSYN B, INCLUDED;; GOLSYN C, INCLUDED
Asterisk 611569 CYTOSKELETON-ASSOCIATED PROTEIN 2; CKAP2 TUMOR- AND MICROTUBULE-ASSOCIATED PROTEIN; TMAP;; LB1
Asterisk 611570 FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1 FRUCTOSE-1,6-BISPHOSPHATASE, LIVER;; FRUCTOSE-1,6-DIPHOSPHATASE
Percent 611571 OTOSCLEROSIS 4; OTSC4
Percent 611572 OTOSCLEROSIS 7; OTSC7
Asterisk 611573 SPHINGOMYELIN SYNTHASE 1; SGMS1 SMS1;; TRANSMEMBRANE PROTEIN 23; TMEM23;; MEDULLA OBLONGATA-DERIVED PROTEIN; MOB
Asterisk 611574 SPHINGOMYELIN SYNTHASE 2; SGMS2 SMS2
Asterisk 611575 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 8; SAMD8 SPHINGOMYELIN SYNTHASE-RELATED; SMSR
Asterisk 611576 MICRO RNA 10B; MIR10B miRNA10B;; MIRN10B
Asterisk 611577 LYSINE-SPECIFIC DEMETHYLASE 6B; KDM6B JUMONJI DOMAIN-CONTAINING PROTEIN 3; JMJD3;; KIAA0346
Asterisk 611578 FERRIC CHELATE REDUCTASE 1; FRRS1 STROMAL CELL-DERIVED RECEPTOR 2, MOUSE, HOMOLOG OF; SDR2
Asterisk 611579 TRANSMEMBRANE PROTEIN 114; TMEM114
Asterisk 611580 EPIDIDYMAL PROTEIN 3A; EDDM3A HUMAN EPIDIDYMIS-SPECIFIC PROTEIN 3, ALPHA; HE3A;; FAMILY WITH SEQUENCE SIMILARITY 12, MEMBER A; FAM12A
Caret 611581 MOVED TO 601067
Asterisk 611582 FAMILY WITH SEQUENCE SIMILARITY 12, MEMBER B; FAM12B HUMAN EPIDIDYMIS-SPECIFIC 3, BETA; HE3B
Asterisk 611583 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 5A; ARID5A ARID-CONTAINING PROTEIN 5A;; MODULATOR RECOGNITION FACTOR 1; MRF1
Number Sign 611584 WAARDENBURG SYNDROME, TYPE 2E; WS2E HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION;; WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT;; WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT;; WAARDENBURG SYNDROME, TYPE IIE
Asterisk 611585 TESCALCIN, MOUSE, HOMOLOG OF; TESC TSC
Asterisk 611586 COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 1; C1QL1 C1q-RELATED FACTOR; CRF;; C1QRF
Asterisk 611587 RHO GTPase-ACTIVATING PROTEIN 19; ARHGAP19 GTPase-ACTIVATING PROTEIN, RHO, 19
Number Sign 611588 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MDDGC4 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; LGMD2M
Asterisk 611589 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 5; PNPLA5 GS2-LIKE PROTEIN; GS2L
Number Sign 611590 RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA RTA, DISTAL, AUTOSOMAL RECESSIVE, WITH HEMOLYTIC ANEMIA RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY, INCLUDED
Asterisk 611591 PRO-PLATELET BASIC PROTEIN PSEUDOGENE 2; PPBPP2 PRO-PLATELET BASIC PROTEIN-LIKE 2; PPBPL2;; DNA-BINDING PROTEIN AMPLIFYING EXPRESSION OF SURFACTANT PROTEIN B
Asterisk 611592 PHENYLALANYL-tRNA SYNTHETASE 2, MITOCHONDRIAL; FARS2 FARS1;; MITOCHONDRIAL PHERS
Asterisk 611593 SUBMAXILLARY GLAND ANDROGEN-REGULATED PROTEIN 3, MOUSE, HOMOLOG OF, B; SMR3B SUBMAXILLARY GLAND ANDROGEN-REGULATED PROTEIN 1, MOUSE, HOMOLOG OF, B; SMR1B;; PROLINE-RICH PROTEIN 3; PRL3;; PBII P-B PEPTIDE, INCLUDED
Asterisk 611594 UBIQUITIN-SPECIFIC PROTEASE 39; USP39 snRNP ASSEMBLY DEFECTIVE 1, S. CEREVISIAE, HOMOLOG OF; SAD1
Asterisk 611595 THIOREDOXIN-LIKE 4A; TXNL4A DIM1, S. POMBE, HOMOLOG OF; DIM1;; U5 snRNP-SPECIFIC PROTEIN, 15-KD;; U5-15KD
Asterisk 611596 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 4; DHRS4 SDR FAMILY, MEMBER 4;; NADPH-DEPENDENT RETINOL DEHYDROGENASE/REDUCTASE; NRDR
Number Sign 611597 CATARACT 12, MULTIPLE TYPES; CTRCT12
Percent 611598 CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 6 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 5, INCLUDED; AIS5, INCLUDED
Asterisk 611599 MICRO RNA 206; MIR206 miRNA206;; MIRN206
Asterisk 611600 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 3; RIMS3 RIM3-GAMMA;; NIM3;; KIAA0237
Asterisk 611601 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 4; RIMS4 RIM4-GAMMA
Asterisk 611602 RIMS-BINDING PROTEIN 2; RIMBP2 KIAA0318
Number Sign 611603 LISSENCEPHALY 3; LIS3
Asterisk 611604 ENDOPLASMIC RETICULUM LIPID RAFT-ASSOCIATED PROTEIN 1; ERLIN1 KEO4
Asterisk 611605 ENDOPLASMIC RETICULUM LIPID RAFT-ASSOCIATED PROTEIN 2; ERLIN2 SPFH DOMAIN-CONTAINING PROTEIN 2; SPFH2;; CHROMOSOME 8 OPEN READING FRAME 2; C8ORF2
Asterisk 611606 MICRO RNA 96; MIR96 miRNA96;; MIRN96
Asterisk 611607 MICRO RNA 182; MIR182 miRNA182;; MIRN182
Asterisk 611608 MICRO RNA 183; MIR183 miRNA183;; MIRN183
Asterisk 611609 SIPA1-LIKE PROTEIN 2; SIPA1L2 KIAA1389
Asterisk 611610 PHOSPHOGLUCOMUTASE 2-LIKE 1; PGM2L1
Asterisk 611611 S-PHASE CYCLIN A-ASSOCIATED PROTEIN IN THE ENDOPLASMIC RETICULUM; SCAPER KIAA1454;; ZINC FINGER PROTEIN 291; ZNF291
Asterisk 611612 THIAMINE TRIPHOSPHATASE; THTPA THTPase
Asterisk 611613 KDEL MOTIF-CONTAINING 1; KDELC1 ENDOPLASMIC RETICULUM RESIDENT PROTEIN 58; EP58
Asterisk 611614 UTP3, S. CEREVISIAE, HOMOLOG OF; UTP3 CHARGED AMINO ACID-RICH LEUCINE ZIPPER 1; CRL1; CRLZ1
Number Sign 611615 CARDIOMYOPATHY, DILATED, 1X; CMD1X CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS
Asterisk 611616 NAD KINASE; NADK
Asterisk 611617 EF-HAND DOMAIN FAMILY, MEMBER D1; EFHD1
Caret 611618 MOVED TO 248370
Asterisk 611619 MICRO RNA 877; MIR877 miRNA877;; MIRN877
Asterisk 611620 MICRO RNA 1224; MIR1224 miRNA1224;; MIRN1224
Asterisk 611621 MICRO RNA 1225; MIR1225 miRNA1225;; MIRN1225
Asterisk 611622 IQ MOTIF-CONTAINING PROTEIN J; IQCJ IQCJ/SCHIP1 FUSION GENE, INCLUDED
Asterisk 611623 NECAP ENDOCYTOSIS-ASSOCIATED PROTEIN 1; NECAP1 ADAPTIN EAR-BINDING COAT-ASSOCIATED PROTEIN 1
Asterisk 611624 NECAP ENDOCYTOSIS-ASSOCIATED PROTEIN 2; NECAP2 ADAPTIN EAR-BINDING COAT-ASSOCIATED PROTEIN 2
Asterisk 611625 GID COMPLEX, SUBUNIT 8; GID8 GLUCOSE-INDUCED DEGRADATION-DEFICIENT PROTEIN 8, S. CEREVISIAE, HOMOLOG OF;; CHROMOSOME 20 OPEN READING FRAME 11; C20ORF11;; TWO-HYBRID-ASSOCIATED PROTEIN WITH RANBPM 1; TWA1
Asterisk 611626 M-PHASE PHOSPHOPROTEIN 8; MPHOSPH8 MPP8;; TWO-HYBRID-ASSOCIATED PROTEIN WITH RANBPM 3; TWA3
Asterisk 611627 FAMILY WITH SEQUENCE SIMILARITY 57, MEMBER A; FAM57A CT120
Asterisk 611628 NEURON NAVIGATOR 1; NAV1 PORE MEMBRANE- AND/OR FILAMENT-INTERACTING-LIKE PROTEIN 3; POMFIL3;; KIAA1151
Asterisk 611629 NEURON NAVIGATOR 3; NAV3 PORE MEMBRANE- AND/OR FILAMENT-INTERACTING-LIKE PROTEIN 1; POMFIL1;; KIAA0938
Percent 611630 EPILEPSY, FAMILIAL TEMPORAL LOBE, 3; ETL3 EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE; FMTLE
Percent 611631 EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4 EPILEPSY, OCCIPITOTEMPORAL LOBE, AND MIGRAINE WITH AURA; EPOLM
Asterisk 611632 UbiA PRENYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; UBIAD1 TRANSITIONAL EPITHELIAL RESPONSE PROTEIN 1; TERE1
Asterisk 611633 RTF1, S. CEREVISIAE, HOMOLOG OF; RTF1 KIAA0252
Percent 611634 FEBRILE SEIZURES, FAMILIAL, 9; FEB9 FEBRILE CONVULSIONS, FAMILIAL, 9; FEB9
Asterisk 611635 NEUROGENIC DIFFERENTIATION 4; NEUROD4 MATH3
Asterisk 611636 N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE 2; NAALAD2 NAALADase II
Percent 611637 PRIMARY LATERAL SCLEROSIS, ADULT, 1; PLSA1 PLS, ADULT; PLSA
Number Sign 611638 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5
Asterisk 611639 ZINC FINGER GATA-LIKE PROTEIN 1; ZGLP1 GATA-LIKE PROTEIN 1; GLP1
Asterisk 611640 FIBRONECTIN TYPE III AND ANKYRIN REPEAT DOMAINS 1; FANK1
Asterisk 611641 CANCER SUSCEPTIBILITY GENE HEPN1; HEPN1
Asterisk 611642 HEPATOCYTE CELL ADHESION MOLECULE; HEPACAM GLIAL CELL ADHESION MOLECULE; GLIALCAM;; HEPATOCYTE AND GLIAL CELL ADHESION MOLECULE
Asterisk 611643 ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 4; ZKSCAN4 ZINC FINGER PROTEIN 307; ZNF307
Percent 611644 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 9; HSCR9
Asterisk 611645 CXXC FINGER PROTEIN 4; CXXC4 DVL1-BINDING PROTEIN;; INHIBITOR OF DVL/AXIN COMPLEX; IDAX
Asterisk 611646 SPHK1-INTERACTING PROTEIN; SPHKAP SPHK1 INTERACTOR, AKAP DOMAIN-CONTAINING;; SKIP;; KIAA1678
Asterisk 611647 ARV1, S. CEREVISIAE, HOMOLOG OF; ARV1
Asterisk 611648 HISTIDINE ACID PHOSPHATASE DOMAIN-CONTAINING PROTEIN 1; HISPPD1 DIPHOSPHOINOSITOL PENTAKISPHOSPHATE KINASE 2; PPIP5K2;; VIP2;; KIAA0433
Asterisk 611649 MINDY LYSINE-48 DEUBIQUITINASE 3; MINDY3 CARD-CONTAINING PROTEIN; CARP;; CHROMOSOME 10 OPEN READING FRAME 97; C10ORF97;; FAMILY WITH SEQUENCE SIMILARITY 188, MEMBER A; FAM188A
NULL 611650 PERIPAPILLARY ATROPHY, BETA TYPE; PPAB BETA-PPA;; PERIPAPILLARY CHORIORETINAL ATROPHY, BETA TYPE
Asterisk 611651 PHOSPHOLIPASE A2, GROUP III; PLA2G3 PHOSPHOLIPASE A2, SECRETED, GROUP III;; GIII-SPLA2;; SPLA2-III
Asterisk 611652 PHOSPHOLIPASE A2, GROUP XIIA; PLA2G12A PHOSPHOLIPASE A2, SECRETED, GROUP XII;; SPLA2-GXII;; GXII;; ROSSY
Asterisk 611653 PHOSPHOLIPASE A2, GROUP XIIB; PLA2G12B PHOSPHOLIPASE A2, SECRETED, GROUP XIIB;; SPLA2-GXIIB;; GXIIB
Asterisk 611654 CENTROSOME SPINDLE POLE-ASSOCIATED PROTEIN 1; CSPP1 CSPP CSPP1-S, INCLUDED;; CSPP1-L, INCLUDED
Asterisk 611655 POST-GPI ATTACHMENT TO PROTEINS 1; PGAP1 GPI DEACYLASE
Asterisk 611656 SUPPRESSOR OF IKBKE 1; SIKE1 SUPPRESSOR OF IKK-EPSILON; SIKE
Asterisk 611657 SPRY DOMAIN- AND SOCS BOX-CONTAINING 1; SPSB1 SPRY DOMAIN-CONTAINING SOCS BOX PROTEIN 1; SSB1
Asterisk 611658 SPRY DOMAIN- AND SOCS BOX-CONTAINING 2; SPSB2 SPRY DOMAIN-CONTAINING SOCS BOX PROTEIN 2; SSB2
Asterisk 611659 SPRY DOMAIN- AND SOCS BOX-CONTAINING 3; SPSB3 SPRY DOMAIN-CONTAINING SOCS BOX PROTEIN 3; SSB3
Asterisk 611660 SPRY DOMAIN- AND SOCS BOX-CONTAINING 4; SPSB4 SPRY DOMAIN-CONTAINING SOCS BOX PROTEIN 4; SSB4
Asterisk 611661 DBF4, S. CEREVISIAE, HOMOLOG OF, B; DBF4B DBF4-RELATED FACTOR 1; DRF1;; ASK-LIKE 1; ASKL1
Asterisk 611662 EOSINOPHIL GRANULE ONTOGENY EGO
Asterisk 611663 TBC1 DOMAIN FAMILY, MEMBER 20; TBC1D20 C20ORF140
Number Sign 611664 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7 SKIN/HAIR/EYE PIGMENTATION 7, BLOND/BROWN HAIR;; SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN
Asterisk 611665 DEAD/H BOX 54; DDX54 DEAD BOX RNA HELICASE, 97-KD; DP97
Asterisk 611666 PHOSPHOLIPID PHOSPHATASE 6; PLPP6 PPAP2 DOMAIN-CONTAINING PROTEIN 2; PPAPDC2
Asterisk 611667 SPERMATOGENESIS-ASSOCIATED SERINE-RICH PROTEIN 2; SPATS2 SPATA10;; SERINE-RICH SPERMATOCYTES AND ROUND SPERMATID PROTEIN, 59-KD; P59SCR;; SCR59
Asterisk 611668 CORONIN 7; CORO7 POLARITY-OSMOTIC DEFECTIVE 1, DROSOPHILA, HOMOLOG OF; POD1;; CRN7
Asterisk 611669 tRNA METHYLTRANSFERASE 1, S. CEREVISIAE, HOMOLOG OF; TRMT1 TRM1;; N2,N2-DIMETHYLGUANOSINE-26 tRNA METHYLTRANSFERASE;; tRNA(m(2,2)G26)DIMETHYLTRANSFERASE
Asterisk 611670 INOSITOL-3-PHOSPHATE SYNTHASE 1; ISYNA1 MYOINOSITOL 1-PHOSPHATE SYNTHASE A1;; IPS
Asterisk 611671 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Z PROTEIN; PIGZ SMP3, S. CEREVISIAE, HOMOLOG OF; SMP3
Asterisk 611672 SOLUTE CARRIER FAMILY 46 (FOLATE TRANSPORTER), MEMBER 1; SLC46A1 HEME CARRIER PROTEIN 1; HCP1;; PROTON-COUPLED FOLATE TRANSPORTER; PCFT
Asterisk 611673 tRNA METHYLTRANSFERASE 1-LIKE; TRMT1L TRM1-LIKE; TRM1L;; CHROMOSOME 1 OPEN READING FRAME 25; C1ORF25
Asterisk 611674 X KELL BLOOD GROUP PRECURSOR-RELATED FAMILY, MEMBER 3; XKR3 XTES;; XRG3
Asterisk 611675 KIAA0513 GENE; KIAA0513
Asterisk 611676 PHOSDUCIN-LIKE 2; PDCL2
Asterisk 611677 OLFACTORY RECEPTOR, FAMILY 13, SUBFAMILY G, MEMBER 1; OR13G1 OR1-37
Asterisk 611678 PHOSDUCIN-LIKE 3; PDCL3 VIRAL IAP-ASSOCIATED FACTOR; VIAF;; PHLP2A
Asterisk 611679 F-BOX AND WD40 DOMAIN PROTEIN 10; FBXW10
Asterisk 611680 SPECIFICALLY ANDROGEN-REGULATED GENE SARG;; CHROMOSOME 1 OPEN READING FRAME 116; C1ORF116
Asterisk 611681 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 20; ADAMTS20
Asterisk 611682 LIPOPROTEIN(a)-LIKE 2; LPAL2 LP(a)-LIKE 2;; LPA-LIKE 2;; APOLIPOPROTEIN(a)-RELATED GENE C; APOARGC
Asterisk 611683 FRUCTOSAMINE 3-KINASE-RELATED PROTEIN FN3K-RELATED PROTEIN; FN3KRP
Asterisk 611684 SQUAMOUS CELL CARCINOMA ANTIGEN RECOGNIZED BY T CELLS 3; SART3 TAT-INTERACTING PROTEIN, 110-KD: TIP110;; p110;; KIAA0156
Asterisk 611685 RING FINGER PROTEIN 8; RNF8 KIAA0646
Asterisk 611686 CAS1 DOMAIN-CONTAINING PROTEIN 1; CASD1 CHROMOSOME 7 OPEN READING FRAME 12; C7ORF12
Asterisk 611687 KHDC3-LIKE PROTEIN, SUBCORTICAL MATERNAL COMPLEX MEMBER; KHDC3L CHROMOSOME 6 OPEN READING FRAME 221; C6ORF221;; EMBRYONIC STEM CELL-ASSOCIATED TRANSCRIPT 1; ECAT1
Asterisk 611688 KH HOMOLOGY DOMAIN-CONTAINING PROTEIN 1; KHDC1
Asterisk 611689 OOCYTE-EXPRESSED PROTEIN, DOG, HOMOLOG OF; OOEP KH HOMOLOGY DOMAIN-CONTAINING PROTEIN 2; KHDC2;; FLOPED, MOUSE, HOMOLOG OF; FLOPED
Asterisk 611690 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 4; PRRG4 PROLINE-RICH GLA PROTEIN 4; PRGP4;; TRANSMEMBRANE GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 4; TMG4
Asterisk 611691 SUSHI, VON WILLEBRAND FACTOR TYPE A, EGF, AND PENTRAXIN DOMAINS-CONTAINING 1; SVEP1 POLYDOM;; SELECTIN-LIKE OSTEOBLAST-DERIVED PROTEIN; SELOB
Asterisk 611692 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 34; ZBTB34 KIAA1993
Asterisk 611693 COXSACKIEVIRUS- AND ADENOVIRUS RECEPTOR-LIKE MEMBRANE PROTEIN; CLMP CXADR-LIKE MEMBRANE PROTEIN;; ADIPOCYTE-SPECIFIC ADHESION MOLECULE; ASAM;; ADIPOCYTE ADHESION MOLECULE; ACAM
Percent 611694 DYSTONIA WITH CEREBELLAR ATROPHY; DYTCA
Asterisk 611695 TAU TUBULIN KINASE 2; TTBK2
Asterisk 611696 SOLUTE CARRIER FAMILY 22, MEMBER 20; SLC22A20 ORGANIC ANION TRANSPORTER 6; OAT6
Asterisk 611697 CHROMOSOME 6 OPEN READING FRAME 85; C6ORF85 SOLUTE CARRIER FAMILY 22, MEMBER 23; SLC22A23
Asterisk 611698 SOLUTE CARRIER FAMILY 22, MEMBER 24; SLC22A24
Asterisk 611699 SV2-RELATED PROTEIN; SVOP
Asterisk 611700 SV2-RELATED PROTEIN-LIKE; SVOPL
Asterisk 611701 SPINSTER, DROSOPHILA, HOMOLOG OF, 3; SPNS3
NULL 611702 SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE
Asterisk 611703 ZINC FINGER PROTEIN 436; ZNF436 KIAA1710
Asterisk 611704 TRANSMEMBRANE PROTEASE, SERINE 11A; TMPRSS11A ESOPHAGEAL CANCER-RELATED GENE 1; ECRG1
Number Sign 611705 SALIH MYOPATHY; SALMY MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY; EOMFC
Percent 611706 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12; MGR12
Asterisk 611707 MYELIN PROTEIN ZERO-LIKE 3; MPZL3
Asterisk 611708 MICRO RNA 431; MIR431 miRNA431;; MIRN431
Asterisk 611709 MICRO RNA 127; MIR127 miRNA127;; MIRN127
Asterisk 611710 MICRO RNA 136; MIR136 miRNA136;; MIRN136
Asterisk 611711 MICRO RNA 433; MIR433 miRNA433;; MIRN433
Asterisk 611712 HOMEODOMAIN-INTERACTING PROTEIN KINASE 4; HIPK4
Asterisk 611713 TCTEX1 DOMAIN-CONTAINING PROTEIN 4; TCTEX1D4 TCTEX2-BETA
Asterisk 611714 GTPase-ACTIVATING PROTEIN AND VPS9 DOMAINS 1; GAPVD1 RAB5-ACTIVATING PROTEIN 6; RAP6;; RAB5 EXCHANGE FACTOR; GAPEX5;; KIAA1521
Asterisk 611715 STEROID 5-ALPHA-REDUCTASE 3; SRD5A3 STEROID 5-ALPHA-REDUCTASE 2-LIKE 1; SRD5A2L1;; SRD5A2L;; POLYPRENOL REDUCTASE
Asterisk 611716 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2 A2V-ATPase
Percent 611717 SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH SED-BDS;; FANTASY ISLAND SYNDROME;; TATOO DYSPLASIA
Number Sign 611718 HYPOMAGNESEMIA 4, RENAL; HOMG4 HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC
Number Sign 611719 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5
Asterisk 611720 INTERFERON REGULATORY FACTOR 2-BINDING PROTEIN LIKE; IRF2BPL CHROMOSOME 14 OPEN READING FRAME 4; C14ORF4;; ENHANCED AT PUBERTY 1; EAP1
Number Sign 611721 COMBINED SAPOSIN DEFICIENCY PROSAPOSIN DEFICIENCY; PSAPD;; COMBINED SAP DEFICIENCY
Number Sign 611722 KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY SAPOSIN A DEFICIENCY
Asterisk 611723 CHROMOSOME 21 OPEN READING FRAME 24; C21ORF24
Number Sign 611724 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 8; SHEP8 SKIN/HAIR/EYE PIGMENTATION 8, BROWN HAIR;; SKIN/HAIR/EYE PIGMENTATION 8, FAIR SKIN;; SKIN/HAIR/EYE PIGMENTATION 8, BLUE/LIGHT EYE COLOR;; SKIN/HAIR/EYE PIGMENTATION 8, FRECKLING/SUNBURN
Asterisk 611725 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 7; KCTD7
Number Sign 611726 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3 CEROID LIPOFUSCINOSIS, NEURONAL, 14; CLN14
Asterisk 611727 CHROMOSOME 1 OPEN READING FRAME 76; C1ORF76 NEUROBLASTOMA-DERIVED SECRETORY PROTEIN; NDSP
Asterisk 611728 PROLINE-RICH PROTEIN 5-LIKE; PRR5L PROTEIN OBSERVED WITH RICTOR 2; PROTOR2;; FLJ14213
Asterisk 611729 KINESIN LIGHT CHAIN 2; KLC2
Asterisk 611730 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 5; EPB41L5 KIAA1548
Asterisk 611731 APC GENE; APC DELETED IN POLYPOSIS 2.5; DP2.5
Asterisk 611732 MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; MBOAT1 MEMBRANE-BOUND O-ACETYLTRANSFERASE 1;; LYSOPHOSPHATIDYLETHANOLAMINE ACYLTRANSFERASE 1; LPEAT1
NULL 611733 DAUWERSE-PETERS SYNDROME SHORT STATURE, FACIAL DYSMORPHISM, SEVERE BRACHYDACTYLY, AND SYNDACTYLY
Asterisk 611734 WD REPEAT-CONTAINING PROTEIN 77; WDR77 METHYLOSOME PROTEIN, 50-KD; MEP50;; ANDROGEN RECEPTOR-ASSOCIATED PROTEIN, 44-KD; p44
Asterisk 611735 CUB DOMAIN-CONTAINING PROTEIN 1; CDCP1 SIMA135;; CD318 ANTIGEN; CD318
Asterisk 611736 GREB1 PROTEIN GREB1;; KIAA0575
Asterisk 611737 SEPTIN 10; SEPT10 SEPT1-LIKE
Percent 611738 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 7; BMND7
Percent 611739 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 8; BMND8 OSTEOPOROSIS, SUSCEPTIBILITY TO
Asterisk 611740 BETA-CAROTENE OXYGENASE 2; BCO2 BETA-CAROTENE DIOXYGENASE 2; BCDO2;; BETA-DIOX-II;; BETA-CAROTENE 9-PRIME,10-PRIME MONOOXYGENASE;; BETA-CAROTENE 9-PRIME,10-PRIME OXYGENASE
Asterisk 611741 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL 3; ACCN3 ACID-SENSING ION CHANNEL 3; ASIC3;; TESTIS SODIUM CHANNEL 1; TNAC1;; DORSAL ROOT ACID-SENSING ION CHANNEL; DRASIC
Number Sign 611742 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9 SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR;; SKIN/HAIR/EYE PIGMENTATION 9, BROWN/NONBROWN EYES;; SKIN/HAIR/EYE PIGMENTATION 9, RED/NONRED HAIR;; SKIN/HAIR/EYE PIGMENTATION 9, FRECKLING/SUNBURN
Asterisk 611743 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 6; PLEKHG6 MYOSIN-INTERACTING GUANINE NUCLEOTIDE EXCHANGE FACTOR; MYOGEF
Asterisk 611744 OTU DOMAIN-CONTAINING PROTEIN 4; OTUD4 HIV-1 INTEGRATION 1; HIN1;; KIAA1046
Asterisk 611745 VCP/p47 COMPLEX-INTERACTING PROTEIN 1; VCPIP1 VCP/p47 COMPLEX-INTERACTING PROTEIN, 135-KD; VCIP135;; KIAA1850
Asterisk 611746 SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN 1; SCUBE1
Asterisk 611747 SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN 2; SCUBE2
Asterisk 611748 OTU DOMAIN-CONTAINING PROTEIN 7B; OTUD7B CELLULAR ZINC FINGER ANTI-NFKB;; CEZANNE
Asterisk 611749 ZINC FINGER RANBP2-TYPE DOMAIN-CONTAINING PROTEIN 1; ZRANB1 ZINC FINGER RAN-BINDING DOMAIN-CONTAINING PROTEIN 1;; TRAF-BINDING DOMAIN-CONTAINING PROTEIN; TRABID
Asterisk 611750 SYNCOILIN 1; SYNC1 SYNCOILIN
Asterisk 611751 THUMP DOMAIN-CONTAINING PROTEIN 2; THUMPD2 CHROMOSOME 2 OPEN READING FRAME 8; C2ORF8;; SAM-DEPENDENT METHYLTRANSFERASE
Asterisk 611752 CHROMOSOME 2 OPEN READING FRAME 40; C2ORF40 ESOPHAGEAL CANCER-RELATED GENE 4; ECRG4
Asterisk 611753 VACUOLE MEMBRANE PROTEIN 1; VMP1 TRANSMEMBRANE PROTEIN 49; TMEM49
Asterisk 611754 ALPHA-AMINOADIPATE AMINOTRANSFERASE; AADAT KYNURENINE AMINOTRANSFERASE II; KAT2
Number Sign 611755 LEBER CONGENITAL AMAUROSIS 10; LCA10
Asterisk 611756 RHOPHILIN ASSOCIATED TAIL PROTEIN 1-LIKE; ROPN1L ROPN1-LIKE PROTEIN;; AKAP-ASSOCIATED SPERM PROTEIN; ASP;; RADIAL SPOKE HEAD 11, CHLAMYDOMONAS, HOMOLOG OF; RSPH11
Asterisk 611757 RHOPHILIN-ASSOCIATED TAIL PROTEIN 1; ROPN1 ROPPORIN;; OUTER DENSE FIBER OF SPERM TAILS 6; ODF6
Asterisk 611758 OTU DOMAIN-CONTAINING PROTEIN 3; OTUD3 KIAA0459
Asterisk 611759 STARD3 N-TERMINAL-LIKE; STARD3NL MLN64 N-TERMINAL DOMAIN HOMOLOG; MENTHO
Asterisk 611760 PROTOCADHERIN 17; PCDH17 PROTOCADHERIN 68; PCDH68
Asterisk 611761 LIPASE MATURATION FACTOR 1; LMF1 TRANSMEMBRANE PROTEIN 112; TMEM112
Number Sign 611762 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2
Asterisk 611763 LIMB BUD AND HEART DEVELOPMENT, MOUSE, HOMOLOG OF; LBH
Asterisk 611764 CORNIFELIN; CNFN
Asterisk 611765 ASPARTIC PEPTIDASE, RETROVIRAL-LIKE 1; ASPRV1 SKIN ASPARTIC PROTEASE; SASP;; SASPase;; TPA-INDUCIBLE ASPARTIC PROTEINASE; TAPS;; MUNO
Asterisk 611766 MITOCHONDRIAL METHIONYL-tRNA FORMYLTRANSFERASE; MTFMT
Asterisk 611767 MICRO RNA 126; MIR126 miRNA126;; MIRN126 MICRO RNA 126*, INCLUDED; MIR126*, INCLUDED;; MICRO RNA 123, INCLUDED; MIR123, INCLUDED
Asterisk 611768 MICRO RNA 335; MIR335 miRNA335;; MIRN335
Asterisk 611769 MICRO RNA 128-2; MIR128-2 miRNA128-2;; MIRN128-2;; MIR128B
Asterisk 611770 NK2, DROSOPHILA, HOMOLOG OF, 6; NKX2-6 CARDIAC-SPECIFIC HOMEOBOX 2; CSX2
Number Sign 611771 LIPOPROTEIN GLOMERULOPATHY; LPG
Asterisk 611772 NUF2, S. CEREVISIAE, HOMOLOG OF; NUF2 NUF2R;; CELL DIVISION CYCLE-ASSOCIATED PROTEIN 1; CDCA1
Number Sign 611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS; HANAC
Asterisk 611774 MICRO RNA 128-1; MIR128-1 miRNA128-1;; MIRN128-1;; MIR128A
Number Sign 611775 KAWASAKI DISEASE KD;; MUCOCUTANEOUS LYMPH NODE SYNDROME;; INFANTILE POLYARTERITIS
Asterisk 611776 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 4; NDUFAF4 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 4;; HORMONE-REGULATED PROLIFERATION-ASSOCIATED PROTEIN, 20-KD; HRPAP20;; CHROMOSOME 6 OPEN READING FRAME 66; C6ORF66
Number Sign 611777 BRUGADA SYNDROME 2; BRGDA2
Asterisk 611778 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1-LIKE; GPD1L KIAA0089
Asterisk 611779 FIBROUS SHEATH CABYR-BINDING PROTEIN; FSCB C14ORF155
Asterisk 611780 PHD AND RING FINGER DOMAIN-CONTAINING PROTEIN 1; PHRF1 KIAA1542
Asterisk 611781 PR DOMAIN-CONTAINING PROTEIN 14; PRDM14 PFM11
Asterisk 611782 DOWN SYNDROME CELL ADHESION MOLECULE-LIKE 1; DSCAML1 DSCAM-LIKE 1;; KIAA1132
Number Sign 611783 ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4
Asterisk 611784 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 6; GTF3C6 TRANSCRIPTION FACTOR IIIC, 35-KD SUBUNIT; TFIIIC35;; C6ORF51
Asterisk 611785 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 5; ABCB5
Asterisk 611786 MEDIATOR OF CELL MOTILITY 1; MEMO1 MEMO;; C2ORF4
Asterisk 611787 CYTIDINE MONOPHOSPHATE (UMP-CMP) KINASE 2, MITOCHONDRIAL; CMPK2 CYTIDYLATE KINASE 2;; URIDINE MONOPHOSPHATE/CYTIDINE MONOPHOSPHATE 2;; UMP/CMP KINASE 2;; UMP/CMPK2
Number Sign 611788 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
Asterisk 611789 NA+/H+ EXCHANGER DOMAIN-CONTAINING PROTEIN 2; NHEDC2 SODIUM/HYDROGEN EXCHANGER DOMAIN-CONTAINING PROTEIN 2;; SODIUM HYDROGEN ANTIPORTER 2; NHA2
Asterisk 611790 MYOSIN VIIA- AND RAB-INTERACTING PROTEIN; MYRIP SYNAPTOTAGMIN-LIKE PROTEIN LACKING C2 DOMAINS C; SLAC2C
Asterisk 611791 PATCHED DOMAIN-CONTAINING PROTEIN 3; PTCHD3
Asterisk 611792 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 4; ZCCHC4
Asterisk 611793 LSM12, S. CEREVISIAE, HOMOLOG OF; LSM12
Asterisk 611794 MICRO RNA 369; MIR369 miRNA369;; MIRN369;; MIR369-3p; MIR369-3 MICRO RNA 369-5p, INCLUDED; MIR369-5p, INCLUDED
Asterisk 611795 MICRO RNA 145; MIR145 miRNA145;; MIRN145
Asterisk 611796 SECRETOGRANIN III; SCG3
Asterisk 611797 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX CHAPERONE 1; UQCC1 UQCC;; CBP3, S. CEREVISIAE, HOMOLOG OF; CBP3;; BASIC FIBROBLAST GROWTH FACTOR-REPRESSED ZIC-BINDING PROTEIN; BFZB;; BFGF-REPRESSED ZIC-BINDING PROTEIN;; CHROMOSOME 20 OPEN READING FRAME 44; C20ORF44
Asterisk 611798 EFR3, S. CEREVISIAE, HOMOLOG OF, A; EFR3A KIAA0143
Asterisk 611799 LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR-LIKE PROTEIN; LCORL LCOR-LIKE PROTEIN;; MBLK1-RELATED PROTEIN 1; MLR1 PRC2-ASSOCIATED LCOR ISOFORM 2, INCLUDED; PALI2, INCLUDED
Asterisk 611800 THYROID ADENOMA-ASSOCIATED GENE; THADA KIAA1767
Asterisk 611801 POST-GPI ATTACHMENT TO PROTEINS 3; PGAP3 PER1-LIKE DOMAIN-CONTAINING PROTEIN 1; PERLD1;; GENE COAMPLIFIED WITH ERBB2; CAB2;; MGC9753
Asterisk 611802 MIGRATION AND INVASION ENHANCER 1; MIEN1 CHROMOSOME 17 OPEN READING FRAME 37; C17ORF37;; REDOX PROTEIN, 12-KD; RDX12;; C35
Asterisk 611803 INTEGRIN-ALPHA FG-GAP REPEAT-CONTAINING PROTEIN 1; ITFG1 T-CELL IMMUNOMODULATORY PROTEIN; TIP
Number Sign 611804 ELLIPTOCYTOSIS 1; EL1 ELLIPTOCYTOSIS, RHESUS-LINKED TYPE;; PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF;; 4.1-MINUS TRAIT;; 4.1- TRAIT
Asterisk 611805 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 5; ELOVL5 HELO1
Asterisk 611806 ARSENIC (+3 OXIDATION STATE) METHYLTRANSFERASE; AS3MT S-ADENOSYL-L-METHIONINE:ARSENIC(III) METHYLTRANSFERASE;; CYT19
Asterisk 611807 TIP41-LIKE PROTEIN; TIPRL TIP41, S. CEREVISIAE, HOMOLOG OF; TIP41;; PROTEIN PHOSPHATASE 2A-INTERACTING PROTEIN; TIP
NULL 611808 TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS; ETINPH
Number Sign 611809 BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB
Asterisk 611810 USH1C-BINDING PROTEIN 1; USHBP1 MUTATED IN COLON CANCER 2; MCC2
Asterisk 611811 ZINC FINGER PROTEIN 333; ZNF333 KIAA1806
Number Sign 611812 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; SERKAL SERKAL SYNDROME
Asterisk 611813 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 1; ELOVL1 SSC1, MOUSE, HOMOLOG OF
Asterisk 611814 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 2; ELOVL2 SSC2, MOUSE, HOMOLOG OF
Asterisk 611815 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 3; ELOVL3 CIG30, MOUSE, HOMOLOG OF
Number Sign 611816 TEMPLE-BARAITSER SYNDROME; TMBTS MENTAL RETARDATION, SEVERE, AND ABSENT NAILS OF HALLUX AND POLLEX
Asterisk 611817 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY K, MEMBER 1; KLRK1 NKG2D
Number Sign 611818 LONG QT SYNDROME 9; LQT9 LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;; LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED
Number Sign 611819 LONG QT SYNDROME 10; LQT10 ATRIAL FIBRILLATION, FAMILIAL, 17, INCLUDED; ATFB17, INCLUDED
Number Sign 611820 LONG QT SYNDROME 11; LQT11
Asterisk 611821 MITOCHONDRIAL RIBOSOMAL PROTEIN L1; MRPL1
Asterisk 611822 MITOCHONDRIAL RIBOSOMAL PROTEIN L2; MRPL2
Asterisk 611823 MITOCHONDRIAL RIBOSOMAL PROTEIN L4; MRPL4
Asterisk 611824 MITOCHONDRIAL RIBOSOMAL PROTEIN L9; MRPL9
Asterisk 611825 MITOCHONDRIAL RIBOSOMAL PROTEIN L10; MRPL10 MRPL8
Asterisk 611826 MITOCHONDRIAL RIBOSOMAL PROTEIN L11; MRPL11
Asterisk 611827 MITOCHONDRIAL RIBOSOMAL PROTEIN L14; MRPL14 MRPL32
Asterisk 611828 MITOCHONDRIAL RIBOSOMAL PROTEIN L15; MRPL15
Asterisk 611829 MITOCHONDRIAL RIBOSOMAL PROTEIN L16; MRPL16
Asterisk 611830 MITOCHONDRIAL RIBOSOMAL PROTEIN L17; MRPL17
Asterisk 611831 MITOCHONDRIAL RIBOSOMAL PROTEIN L18; MRPL18
Asterisk 611832 MITOCHONDRIAL RIBOSOMAL PROTEIN L19; MRPL19 MRPL15;; KIAA0104
Asterisk 611833 MITOCHONDRIAL RIBOSOMAL PROTEIN L20; MRPL20
Asterisk 611834 MITOCHONDRIAL RIBOSOMAL PROTEIN L21; MRPL21
Asterisk 611835 MITOCHONDRIAL RIBOSOMAL PROTEIN L22; MRPL22 MRPL25
Asterisk 611836 MITOCHONDRIAL RIBOSOMAL PROTEIN L24; MRPL24
Asterisk 611837 MITOCHONDRIAL RIBOSOMAL PROTEIN L27; MRPL27
Asterisk 611838 MITOCHONDRIAL RIBOSOMAL PROTEIN L30; MRPL30 MRPL28
Asterisk 611839 MITOCHONDRIAL RIBOSOMAL PROTEIN L32; MRPL32
Asterisk 611840 MITOCHONDRIAL RIBOSOMAL PROTEIN L34; MRPL34
Asterisk 611841 MITOCHONDRIAL RIBOSOMAL PROTEIN L35; MRPL35
Asterisk 611842 MITOCHONDRIAL RIBOSOMAL PROTEIN L36; MRPL36
Asterisk 611843 MITOCHONDRIAL RIBOSOMAL PROTEIN L37; MRPL37
Asterisk 611844 MITOCHONDRIAL RIBOSOMAL PROTEIN L38; MRPL38
Asterisk 611845 MITOCHONDRIAL RIBOSOMAL PROTEIN L39; MRPL39 MRPL5
Asterisk 611846 MITOCHONDRIAL RIBOSOMAL PROTEIN L41; MRPL41 MRPL27
Asterisk 611847 MITOCHONDRIAL RIBOSOMAL PROTEIN L42; MRPL42 MRPL31;; MRPS32
Asterisk 611848 MITOCHONDRIAL RIBOSOMAL PROTEIN L43; MRPL43
Asterisk 611849 MITOCHONDRIAL RIBOSOMAL PROTEIN L44; MRPL44
Asterisk 611850 MITOCHONDRIAL RIBOSOMAL PROTEIN L45; MRPL45
Asterisk 611851 MITOCHONDRIAL RIBOSOMAL PROTEIN L46; MRPL46
Asterisk 611852 MITOCHONDRIAL RIBOSOMAL PROTEIN L47; MRPL47
Asterisk 611853 MITOCHONDRIAL RIBOSOMAL PROTEIN L48; MRPL48
Asterisk 611854 MITOCHONDRIAL RIBOSOMAL PROTEIN L50; MRPL50
Asterisk 611855 MITOCHONDRIAL RIBOSOMAL PROTEIN L51; MRPL51 MRP64
Asterisk 611856 MITOCHONDRIAL RIBOSOMAL PROTEIN L52; MRPL52
Asterisk 611857 MITOCHONDRIAL RIBOSOMAL PROTEIN L53; MRPL53
Asterisk 611858 MITOCHONDRIAL RIBOSOMAL PROTEIN L54; MRPL54
Asterisk 611859 MITOCHONDRIAL RIBOSOMAL PROTEIN L55; MRPL55
Caret 611860 MOVED TO 210720
Asterisk 611861 ADP-DEPENDENT GLUCOKINASE; ADPGK ADP-GK
Number Sign 611862 WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1
Percent 611863 MICROTIA WITH NASOLACRIMAL DUCT IMPERFORATION AND EYE COLOBOMA
Asterisk 611864 ARMADILLO REPEAT-CONTAINING 10; ARMC10 SPLICING VARIANT INVOLVED IN HEPATOCARCINOGENESIS; SVH
Asterisk 611865 L3MBT-LIKE 2; L3MBTL2 L3MBT, DROSOPHILA, HOMOLOG OF, 2
Asterisk 611866 RETINOL-BINDING PROTEIN 5; RBP5 CELLULAR RETINOL-BINDING PROTEIN 3; CRBP3;; CRBPIII
Number Sign 611867 CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL DISTAL CHROMOSOME 22q11.2 DELETION SYNDROME
Number Sign 611868 PROSTATE CANCER, HEREDITARY, 12; HPC12
Asterisk 611869 RABAPTIN, RAB GTPase-BINDING EFFECTOR PROTEIN 2; RABEP2 RABAPTIN 5-BETA
Asterisk 611870 CENTLEIN; CNTLN C9ORF39;; C9ORF101
Asterisk 611871 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER B; FAM82B REGULATOR OF MICROTUBULE DYNAMICS 1; RMD1
Asterisk 611872 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER A1; FAM82A1 REGULATOR OF MICROTUBULE DYNAMICS 2; RMD2;; FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER A, FORMERLY; FAM82A, FORMERLY
Asterisk 611873 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER A2; FAM82A2 REGULATOR OF MICROTUBULE DYNAMICS 3; RMD3;; PROTEIN TYROSINE PHOSPHATASE-INTERACTING PROTEIN 51: PTPIP51 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER C, FORMERLY; FAM82C, FORMERLY
Asterisk 611874 NEURON-DERIVED NEUROTROPHIC FACTOR; NENF NEUDESIN;; CELL IMMORTALIZATION-RELATED PROTEIN 2; CIR2
Number Sign 611875 BRUGADA SYNDROME 3; BRGDA3
Number Sign 611876 BRUGADA SYNDROME 4; BRGDA4
Asterisk 611877 BAI1-ASSOCIATED PROTEIN 2-LIKE 1; BAIAP2L1 INSULIN RECEPTOR TYROSINE KINASE SUBSTRATE; IRTKS
Number Sign 611878 CARDIOMYOPATHY, DILATED, 1Y; CMD1Y LEFT VENTRICULAR NONCOMPACTION 9, INCLUDED; LVNC9, INCLUDED
Number Sign 611879 CARDIOMYOPATHY, DILATED, 1Z; CMD1Z
Number Sign 611880 CARDIOMYOPATHY, DILATED, 2A; CMD2A CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE;; CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE
Number Sign 611881 GLYCOGEN STORAGE DISEASE XII; GSD12 GSD XII;; ALDOLASE A DEFICIENCY;; ALDOA DEFICIENCY;; ALDOLASE DEFICIENCY, RED CELL;; RED CELL ALDOLASE DEFICIENCY
Asterisk 611882 PROLINE-RICH NUCLEAR RECEPTOR COACTIVATOR 2; PNRC2
Asterisk 611883 BRCA2- AND CDKN1A-INTERACTING PROTEIN; BCCIP p21- AND CDK-ASSOCIATED PROTEIN 1; TOK1
Number Sign 611884 CILIARY DYSKINESIA, PRIMARY, 7; CILD7 CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS
Asterisk 611885 SHANK-ASSOCIATED RH DOMAIN INTERACTOR; SHARPIN SHANK-INTERACTING PROTEIN-LIKE 1; SIPL1
NULL 611886 MESOMELIC DYSPLASIA, CAMERA TYPE
Asterisk 611887 UROPLAKIN 3B; UPK3B UPIIIB;; P35
Asterisk 611888 ETS2 REPRESSOR FACTOR; ERF PE2
Asterisk 611889 S100P-BINDING PROTEIN; S100PBP S100PBPR
Number Sign 611890 LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; LAAHD
Percent 611891 AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 3; AAA3
Percent 611892 ANEURYSM, INTRACRANIAL BERRY, 6; ANIB6
Asterisk 611893 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 2; PLEKHG2 CLG
Asterisk 611894 MICRO RNA 140; MIR140 miRNA140;; MIRN140
Number Sign 611895 AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9
Asterisk 611896 RETROTRANSPOSON-LIKE GENE 1; RTL1 PATERNALLY EXPRESSED GENE 11; PEG11
Percent 611897 NANOPHTHALMOS 3; NNO3 NANOPHTHALMIA 3
Asterisk 611898 ENDO-BETA-N-ACETYLGLUCOSAMINIDASE; ENGASE FLJ21865
Asterisk 611899 MICRO RNA 203; MIR203 miRNA203;; MIRN203
Asterisk 611900 METALLOPHOSPHOESTERASE 1; MPPE1 PGAP5
Asterisk 611901 VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 1; VWA1 VA DOMAIN-CONTAINING PROTEIN 1;; VON WILLEBRAND FACTOR A DOMAIN-RELATED PROTEIN; WARP
Asterisk 611902 COILED-COIL DOMAIN-CONTAINING PROTEIN 136; CCDC136 NAG6;; KIAA1793
Asterisk 611903 ZINC FINGER PROTEIN 649; ZNF649
Asterisk 611904 PLACENTA-EXPRESSED TRANSCRIPT 1, MOUSE, HOMOLOG OF; PLET1 CHROMOSOME 11 OPEN READING FRAME 34; C11ORF34
Asterisk 611905 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 4; FNDC4 FRCP1
Asterisk 611906 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 5; FNDC5 FRCP2 IRISIN, INCLUDED
Percent 611907 EPISODIC ATAXIA, TYPE 7; EA7
Asterisk 611908 RFT1, S. CEREVISIAE, HOMOLOG OF; RFT1
Asterisk 611909 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 3B; FNDC3B FACTOR FOR ADIPOCYTE DIFFERENTIATION 104; FAD104
Asterisk 611910 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 12; SLC16A12 MONOCARBOXYLATE TRANSPORTER 12; MCT12
Asterisk 611911 IRON-SULFUR CLUSTER SCAFFOLD, E. COLI, HOMOLOG OF; ISCU
Asterisk 611912 NUCLEAR CASEIN KINASE AND CYCLIN-DEPENDENT KINASE SUBSTRATE 1; NUCKS1 NUCKS
Number Sign 611913 CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB AUTISM, SUSCEPTIBILITY TO, 14A, INCLUDED; AUTS14A, INCLUDED
Asterisk 611914 TSC22 DOMAIN FAMILY, MEMBER 4; TSC22D4 TSC22 HOMOLOGOUS GENE 1; THG1;; TSC22-LIKE
Asterisk 611915 VESICULAR, OVEREXPRESSED IN CANCER, PROSURVIVAL PROTEIN 1; VOPP1 EGFR-COAMPLIFIED AND OVEREXPRESSED PROTEIN; ECOP;; GLIOBLASTOMA-AMPLIFIED SECRETED PROTEIN; GASP
Asterisk 611916 COLLAGEN, TYPE VI, ALPHA-5; COL6A5 COLLAGEN, TYPE XXIX, ALPHA-1; COL29A1
Asterisk 611917 JUMONJI DOMAIN-CONTAINING PROTEIN 5; JMJD5
Caret 611918 MOVED TO 601869
Asterisk 611919 RIBOSOMAL OXYGENASE 1; RIOX1 MYC-ASSOCIATED PROTEIN WITH JMJC DOMAIN; MAPJD;; NUCLEOLAR PROTEIN, 66-KD; NO66;; CHROMOSOME 14 OPEN READING FRAME 169; C14ORF169
Percent 611920 C-REACTIVE PROTEIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; CRPQTL1
Asterisk 611921 GAP JUNCTION PROTEIN, BETA-7; GJB7 CONNEXIN 25; CX25
Asterisk 611922 GAP JUNCTION PROTEIN, DELTA-4; GJD4 CONNEXIN 40.1; CX40.1
Asterisk 611923 GAP JUNCTION PROTEIN, ALPHA-9; GJA9 CONNEXIN 59; CX59
Asterisk 611924 GAP JUNCTION PROTEIN, ALPHA-10; GJA10 CONNEXIN 62; CX62
Asterisk 611925 GAP JUNCTION PROTEIN, GAMMA-3; GJC3 CONNEXIN 30.2; CX30.2;; CONNEXIN 31.3; CX31.3;; CONNEXIN 29; CX29;; GAP JUNCTION PROTEIN, EPSILON-1, FORMERLY; GJE1, FORMERLY
Percent 611926 IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS
Asterisk 611927 FAMILY WITH SEQUENCE SIMILARITY 83, MEMBER H; FAM83H
Number Sign 611928 PROSTATE CANCER, HEREDITARY, 13; HPC13
Percent 611929 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III
Asterisk 611930 INTERFERON-STIMULATED EXONUCLEASE GENE 20-KD-LIKE 2; ISG20L2
Asterisk 611931 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1L; PPM1L PROTEIN PHOSPHATASE 1-LIKE;; PPM1-LIKE;; PROTEIN PHOSPHATASE 2C, EPSILON ISOFORM; PP2CE;; PP2C-EPSILON
Asterisk 611932 CDGSH IRON SULFUR DOMAIN PROTEIN 1; CISD1 MITOCHONDRIAL ASN-GLU-GLU-THR (NEET); MITONEET
Asterisk 611933 CDGSH IRON SULFUR DOMAIN PROTEIN 3; CISD3 MITONEET-RELATED 2; MINER2
Percent 611934 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 5; EIG5 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 10
Asterisk 611935 MMADHC GENE; MMADHC CHROMOSOME 2 OPEN READING FRAME 25; C2ORF25
Number Sign 611936 CHROMOSOME 3q29 DUPLICATION SYNDROME MICRODUPLICATION 3q29 SYNDROME
Asterisk 611937 IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY GENE 3-3; IGHD3-3 IGHD33;; DXP4
Number Sign 611938 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2 VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC; VTSIP
Asterisk 611939 IMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENE 3-23; IGHV3-23 IGHV323;; V3-23;; VH26;; DP47
Asterisk 611940 MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 4; MBOAT4 GHRELIN O-ACETYLTRANSFERASE; GOAT
Asterisk 611941 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 2; ATAD2 AAA NUCLEAR COREGULATOR, CANCER-ASSOCIATED; ANCCA
Number Sign 611942 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6, INCLUDED; EIG6, INCLUDED
Number Sign 611943 RIDDLE SYNDROME RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FEATURES, AND LEARNING DIFFICULTIES
Percent 611944 LYMPHEDEMA, HEREDITARY, IB; LMPH1B
Percent 611945 SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT; SPG37
Asterisk 611946 UBX DOMAIN PROTEIN 6; UBXN6 UBX DOMAIN-CONTAINING GENE 1; UBXD1
Asterisk 611947 NLR FAMILY MEMBER X1; NLRX1 NOD9;; CLR11.3
Caret 611948 MOVED TO 267750
Asterisk 611949 MEMBRANE-BOUND O-ACYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 2; MBOAT2 MEMBRANE-BOUND O-ACYLTRANSFERASE 2;; LYSOPHOSPHATIDYLCHOLINE ACYLTRANSFERASE 4; LPCAT4
Asterisk 611950 LYSOPHOSPHATIDYLCHOLINE ACYLTRANSFERASE 3; LPCAT3 MEMBRANE-BOUND O-ACYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 5; MBOAT5;; MEMBRANE-BOUND O-ACYLTRANSFERASE 5;; NESSY, DROSOPHILA, HOMOLOG OF
Asterisk 611951 B9 DOMAIN-CONTAINING PROTEIN 2; B9D2 STUMPY, MOUSE, HOMOLOG OF;; MKS1-RELATED PROTEIN 2; MKSR2
Asterisk 611952 VACUOLAR PROTEIN SORTING 28, YEAST, HOMOLOG OF; VPS28
Number Sign 611953 MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11
Asterisk 611954 MICRO RNA 373; MIR373 miRNA373;; MIRN373
Percent 611955 PROSTATE CANCER, HEREDITARY, 11; HPC11
Asterisk 611956 CHROMOSOME 3 OPEN READING FRAME 52; C3ORF52 TPA-INDUCED TRANSMEMBRANE PROTEIN; TTMP
Asterisk 611957 MICRO RNA 378; MIRN378 miRNA378;; MIR378
Percent 611958 PROSTATE CANCER, HEREDITARY, 14; HPC14
Percent 611959 PROSTATE CANCER, HEREDITARY, 15; HPC15
Number Sign 611960 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7
NULL 611961 STEVENSON-CAREY SYNDROME
Percent 611962 HUNTER-MACDONALD SYNDROME
Asterisk 611963 ACYL-CoA THIOESTERASE 7-LIKE LOC344967
Asterisk 611964 CYTOCHROME b5, TYPE B (OUTER MITOCHONDRIAL MEMBRANE); CYB5B OUTER MITOCHONDRIAL MEMBRANE CYTOCHROME b5; OMB5;; CYPB5M;; CYTB5, TYPE 2
Asterisk 611965 THO COMPLEX, SUBUNIT 7; THOC7 NIF3L1-BINDING PROTEIN 1; NIF3L1BP1;; FSAP24
Asterisk 611966 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 9; TRAPPC9 NIK- AND IKBKB-BINDING PROTEIN; NIBP;; KIAA1882
Asterisk 611967 KELCH-LIKE 8; KLHL8 KIAA1378
Asterisk 611968 CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 2, 64-KD, TAU VARIANT; CSTF2T CSTF2, TAU VARIANT;; CSTF64, TAU VARIANT;; TAU-CSTF64;; KIAA0689
Asterisk 611969 HCCA2 GENE; HCCA2
Asterisk 611970 NUCLEOLAR PROTEIN INTERACTING WITH THE FHA DOMAIN OF MKI67; NIFK MKI67-INTERACTING NUCLEOLAR PHOSPHOPROTEIN; MKI67IP;; NOPP34
Asterisk 611971 MITOCHONDRIAL RIBOSOMAL PROTEIN S2; MRPS2
Asterisk 611972 MITOCHONDRIAL RIBOSOMAL PROTEIN S5; MRPS5
Asterisk 611973 MITOCHONDRIAL RIBOSOMAL PROTEIN S6; MRPS6
Asterisk 611974 MITOCHONDRIAL RIBOSOMAL PROTEIN S7; MRPS7
Asterisk 611975 MITOCHONDRIAL RIBOSOMAL PROTEIN S9; MRPS9
Asterisk 611976 MITOCHONDRIAL RIBOSOMAL PROTEIN S10; MRPS10
Asterisk 611977 MITOCHONDRIAL RIBOSOMAL PROTEIN S11; MRPS11
Asterisk 611978 MITOCHONDRIAL RIBOSOMAL PROTEIN S14; MRPS14
Asterisk 611979 MITOCHONDRIAL RIBOSOMAL PROTEIN S15; MRPS15
Asterisk 611980 MITOCHONDRIAL RIBOSOMAL PROTEIN S17; MRPS17
Asterisk 611981 MITOCHONDRIAL RIBOSOMAL PROTEIN S18A; MRPS18A MRPS18-3
Asterisk 611982 MITOCHONDRIAL RIBOSOMAL PROTEIN S18B; MRPS18B MRPS18-2
Asterisk 611983 MITOCHONDRIAL RIBOSOMAL PROTEIN S18C; MRPS18C MRPS18-1
Asterisk 611984 MITOCHONDRIAL RIBOSOMAL PROTEIN S21; MRPS21
Asterisk 611985 MITOCHONDRIAL RIBOSOMAL PROTEIN S23; MRPS23
Asterisk 611986 MITOCHONDRIAL RIBOSOMAL PROTEIN S24; MRPS24
Asterisk 611987 MITOCHONDRIAL RIBOSOMAL PROTEIN S25; MRPS25
Asterisk 611988 MITOCHONDRIAL RIBOSOMAL PROTEIN S26; MRPS26 MRPS13
Asterisk 611989 MITOCHONDRIAL RIBOSOMAL PROTEIN S27; MRPS27 KIAA0264
Asterisk 611990 MITOCHONDRIAL RIBOSOMAL PROTEIN S28; MRPS28 MRPS35
Asterisk 611991 MITOCHONDRIAL RIBOSOMAL PROTEIN S30; MRPS30
Asterisk 611992 MITOCHONDRIAL RIBOSOMAL PROTEIN S31; MRPS31 IMOGEN 38
Asterisk 611993 MITOCHONDRIAL RIBOSOMAL PROTEIN S33; MRPS33
Asterisk 611994 MITOCHONDRIAL RIBOSOMAL PROTEIN S34; MRPS34 MRPS12
Asterisk 611995 MITOCHONDRIAL RIBOSOMAL PROTEIN S35; MRPS35 MRPS28
Asterisk 611996 MITOCHONDRIAL RIBOSOMAL PROTEIN S36; MRPS36
Asterisk 611997 MITOCHONDRIAL RIBOSOMAL PROTEIN 63; MRP63
Asterisk 611998 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 3; CREB3L3 CREBH
Asterisk 611999 RAB11 FAMILY-INTERACTING PROTEIN 4; RAB11FIP4 KIAA1821
Asterisk 612000 TRIPARTITE MOTIF-CONTAINING PROTEIN 66; TRIM66 TRANSCRIPTIONAL INTERMEDIARY FACTOR 1-DELTA; TIF1D;; TIF1-DELTA;; KIAA0298
Number Sign 612001 CHROMOSOME 15q13.3 DELETION SYNDROME CHROMOSOME 15q13.3 MICRODELETION SYNDROME
Asterisk 612002 DEP DOMAIN-CONTAINING PROTEIN 1; DEPDC1 FLJ20354
Asterisk 612003 GRB10-INTERACTING GYF PROTEIN 2; GIGYF2 KIAA0642
Number Sign 612004 THROMBOCYTOPENIA 4; THC4 THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 4
Percent 612005 CELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 7
Percent 612006 CELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 8
Percent 612007 CELIAC DISEASE, SUSCEPTIBILITY TO, 9; CELIAC9 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 9
Percent 612008 CELIAC DISEASE, SUSCEPTIBILITY TO, 10; CELIAC10 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 10
Percent 612009 CELIAC DISEASE, SUSCEPTIBILITY TO, 11; CELIAC11 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 11
Percent 612010 CELIAC DISEASE, SUSCEPTIBILITY TO, 12; CELIAC12 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 12
Percent 612011 CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 13
Asterisk 612012 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 26; ZFYVE26 KIAA0321;; SPASTIZIN;; SPG15 GENE; SPG15
Asterisk 612013 COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A; CC2D2A KIAA1345
Asterisk 612014 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 21B; TTC21B TETRATRICOPEPTIDE REPEAT-CONTAINING HEDGEHOG MODULATOR 1; THM1
Number Sign 612015 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N CDG In; CDGIn
Number Sign 612016 COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9; SCAR9
Percent 612017 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 3; IHPS3
Number Sign 612018 CATARACT 47; CTRCT47 CATARACT, JUVENILE, WITH MICROCORNEA;; CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA, FORMERLY; CJMG, FORMERLY
Asterisk 612019 INTESTINE-SPECIFIC HOMEOBOX; ISX RAX-LIKE HOMEOBOX; RAXLX
Number Sign 612020 SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39 NTE-RELATED MOTOR NEURON DISORDER; NTEMND
Asterisk 612021 OTU DOMAIN-CONTAINING PROTEIN 6B; OTUD6B DUBA5
Asterisk 612022 OTU DOMAIN-CONTAINING PROTEIN 1; OTUD1 DUBA7
Asterisk 612023 YOD1 OTU DEUBIQUITINATING ENZYME 1, S. CEREVISIAE, HOMOLOG OF; YOD1 OTU DOMAIN-CONTAINING PROTEIN 2; OTUD2;; DUBA8
Asterisk 612024 OTU DOMAIN-CONTAINING PROTEIN 7A; OTUD7A OTUD7;; C16ORF15;; CEZANNE2
Asterisk 612025 IODOTYROSINE DEIODINASE; IYD IODOTYROSINE DEHALOGENASE 1; DEHAL1
Asterisk 612026 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 7; LARP7 PTEFB INTERACTION PROTEIN FOR 7SK STABILITY; PIP7S
Asterisk 612027 GRP1-ASSOCIATED SCAFFOLD PROTEIN; GRASP TAMALIN
Asterisk 612028 FAT STORAGE-INDUCING TRANSMEMBRANE PROTEIN 1; FITM1 FAT-INDUCING TRANSCRIPT 1; FIT1
Asterisk 612029 FAT STORAGE-INDUCING TRANSMEMBRANE PROTEIN 2; FITM2 FAT-INDUCING TRANSCRIPT 2; FIT2;; CHROMOSOME 20 OPEN READING FRAME 142; C20ORF142
Percent 612030 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9; CHDS9
Asterisk 612031 INHIBIN, BETA E; INHBE ACTIVIN BETA-E, INCLUDED
Asterisk 612032 DPY30, C. ELEGANS, HOMOLOG OF: DPY30
Asterisk 612033 PAXIP1-ASSOCIATED GLUTAMATE-RICH PROTEIN 1; PAGR1 PTIP-ASSOCIATED 1 PROTEIN; PA1;; CHROMOSOME 16 OPEN READING FRAME 53; C16ORF53
Asterisk 612034 APC2 GENE; APC2 APC-LIKE; APCL
Asterisk 612035 ALANYL-tRNA SYNTHETASE 2; AARS2 ALANYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MT-ALARS;; KIAA1270
Asterisk 612036 PROLYL-tRNA SYNTHETASE 2; PARS2 PROLYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MT-PRORS
Asterisk 612037 MITOCHONDRIAL UBIQUITIN LIGASE ACTIVATOR OF NFKB 1; MUL1 MULAN;; CHROMOSOME 1 OPEN READING FRAME 166; C1ORF166
Asterisk 612038 TRANSMEMBRANE p24 TRAFFICKING PROTEIN 4; TMED4 TRANSMEMBRANE EMP24 PROTEIN TRANSPORT DOMAIN-CONTAINING PROTEIN 4
Asterisk 612039 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 7; AGPAT7 ACYLTRANSFERASE-LIKE 3; AYTL3
Asterisk 612040 LYSOPHOSPHATIDYLCHOLINE ACYLTRANSFERASE 2; LPCAT2 ACYLTRANSFERASE-LIKE 1; AYTL1
Asterisk 612041 RING FINGER PROTEIN 212; RNF212 ZHP3, C. ELEGANS, HOMOLOG OF; ZHP3;; ZIP3-RELATED PROTEIN
Number Sign 612042 RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1; RRQTL1
Asterisk 612043 MICRO RNA 371A; MIR371A miRNA371A;; miRNA371;; MIRN371
Asterisk 612044 MICRO RNA 372; MIRN372 miRNA372;; MIR372
Asterisk 612045 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 3; C1QTNF3 CTRP3;; COLLAGENOUS REPEAT-CONTAINING SEQUENCE, 26-KD PROTEIN; CORS26
Asterisk 612046 E2F TRANSCRIPTION FACTOR 7; E2F7
Asterisk 612047 E2F TRANSCRIPTION FACTOR 8; E2F8
Asterisk 612048 TRANSMEMBRANE PROTEIN 43; TMEM43 LUMA
Asterisk 612049 MYC-INDUCED NUCLEAR ANTIGEN; MINA MYC-INDUCED NUCLEAR ANTIGEN, 53-KD; MINA53;; MINERAL DUST-INDUCED GENE; MDIG
Asterisk 612050 NEDD4 FAMILY-INTERACTING PROTEIN 1; NDFIP1 NEDD4 WW DOMAIN-BINDING PROTEIN 5; N4WBP5
Asterisk 612051 BRAIN-EXPRESSED, ASSOCIATED WITH NEDD4; BEAN
Number Sign 612052 SMOKING AS A QUANTITATIVE TRAIT LOCUS 3; SQTL3 NICOTINE DEPENDENCE, SUSCEPTIBILITY TO LUNG CANCER SUSCEPTIBILITY 2, INCLUDED; LNCR2, INCLUDED
Asterisk 612053 ZINC FINGER PROTEIN 36-LIKE 2; ZFP36L2 ZFP36-LIKE 2;; EGF RESPONSE FACTOR 2; ERF2;; TIS11D, MOUSE, HOMOLOG OF; TIS11D
Asterisk 612054 REQUIRED FOR CELL DIFFERENTIATION 1, S. POMBE, HOMOLOG OF; RQCD1 RCD1;; CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 9; CNOT9
Asterisk 612055 RIBOSOMAL PROTEIN S27-LIKE; RPS27L RPS27-LIKE
Asterisk 612056 GOLGI TO ER TRAFFIC PROTEIN 4, S. CEREVISIAE, HOMOLOG OF; GET4 CHROMOSOME 7 OPEN READING FRAME 20; C7ORF20;; CONSERVED EDGE-EXPRESSED PROTEIN; CEE;; TRANSMEMBRANE DOMAIN RECOGNITION COMPLEX, 35-KD;; TRC35
Asterisk 612057 CHROMOSOME 9 OPEN READING FRAME 140; C9ORF140 p42.3
Asterisk 612058 SORTING AND ASSEMBLY MACHINERY COMPONENT 50, S. CEREVISIAE, HOMOLOG OF; SAMM50 SAM50
Asterisk 612059 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 1; LARP1 La-RELATED PROTEIN; LARP;; KIAA0731
Asterisk 612060 ZINC FINGER AND RING FINGER PROTEIN 1; ZNRF1 NERVE INJURY GENE 283; NIN283
Asterisk 612061 ZINC FINGER AND RING FINGER PROTEIN 2; ZNRF2
Asterisk 612062 ZINC FINGER AND RING FINGER PROTEIN 3; ZNRF3 KIAA1133
Asterisk 612063 ZINC FINGER AND RING FINGER PROTEIN 4; ZNRF4 SPERMATID-SPECIFIC RING ZINC FINGER PROTEIN; SPERIZIN
Asterisk 612064 GRB10-INTERACTING GYF PROTEIN 1; GIGYF1
Asterisk 612065 POLY(ADP-RIBOSE) POLYMERASE 9; PARP9 B-AGGRESSIVE LYMPHOMA 1; BAL1;; BAL
Asterisk 612066 POLY(ADP-RIBOSE) POLYMERASE 15; PARP15 B-AGGRESSIVE LYMPHOMA 3; BAL3
Number Sign 612067 DYSTONIA 16; DYT16
Asterisk 612068 PHOSPHOINOSITIDE-INTERACTING REGULATOR OF TRANSIENT RECEPTOR POTENTIAL CHANNELS; PIRT PHOSPHOINOSITIDE-INTERACTING REGULATOR OF TRP
Number Sign 612069 AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED, INCLUDED;; FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED, INCLUDED;; FTLD-TDP, TARDBP-RELATED, INCLUDED
Asterisk 612070 MICRO RNA 144; MIRN144 miRNA144;; MIR144
Asterisk 612071 MICRO RNA 451; MIRN451 miRNA451;; MIR451
Asterisk 612072 MIF4G DOMAIN-CONTAINING PROTEIN; MIF4GD SLBP-INTERACTING PROTEIN 1; SLIP1
Number Sign 612073 MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA); MTDPS5 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED
Asterisk 612074 RNA-BINDING MOTIF PROTEIN 28; RBM28
Number Sign 612075 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), INCLUDED; MTDPS8B, INCLUDED;; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED, INCLUDED;; MNGIE, RRM2B-RELATED, INCLUDED
Number Sign 612076 HYPOURICEMIA, RENAL, 2; RHUC2 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2, INCLUDED; UAQTL2, INCLUDED;; GOUT SUSCEPTIBILITY 2, INCLUDED; GOUT2, INCLUDED
Asterisk 612077 MICRO RNA 22; MIR22 miRNA22;; MIRN22
Asterisk 612078 ZINC FINGER PROTEIN 469; ZNF469 KIAA1858
Number Sign 612079 ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME; ANES ANE SYNDROME
Asterisk 612080 UBIQUINOL-CYTOCHROME c REDUCTASE, COMPLEX III SUBUNIT VII, 9.5-KD; UQCRQ QPC
Asterisk 612081 INTERLEUKIN 34; IL34 CHROMOSOME 16 OPEN READING FRAME 77; C16ORF77
Asterisk 612082 CAPICUA, DROSOPHILA, HOMOLOG OF; CIC KIAA0306
Percent 612083 MUSCLE STRENGTH QUANTITATIVE TRAIT LOCUS 1 MUSTQTL1
Asterisk 612084 ORGANIC SOLUTE TRANSPORTER, ALPHA OST-ALPHA; OSTA
Asterisk 612085 ORGANIC SOLUTE TRANSPORTER, BETA OST-BETA; OSTB
Asterisk 612086 MINOR HISTOCOMPATIBILITY ANTIGEN, SERPIN DOMAIN-CONTAINING; HMSD
Asterisk 612087 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER A; CLEC2A PROLIFERATION-INDUCED LYMPHOCYTE-ASSOCIATED RECEPTOR; PILAR
Asterisk 612088 C-TYPE LECTIN DOMAIN FAMILY 12, MEMBER A; CLEC12A MYELOID INHIBITORY C-TYPE LECTIN-LIKE RECEPTOR; MICL
Percent 612089 HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM
Asterisk 612090 MICRO RNA 200A; MIR200A miRNA200A;; MIRN200A
Asterisk 612091 MICRO RNA 200B; MIRN200B miRNA200B;; MIR200B
Asterisk 612092 MICRO RNA 200C; MIR200C miRNA200C;; MIRN200C
Asterisk 612093 MICRO RNA 141; MIR141 miRNA141;; MIRN141
Asterisk 612094 MICRO RNA 429; MIRN429 miRNA429;; MIR429
Number Sign 612095 RETINITIS PIGMENTOSA 41; RP41 RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, PROMININ-RELATED
Percent 612096 OTOSCLEROSIS 8; OTSC8
Percent 612097 DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS
Number Sign 612098 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11
Percent 612099 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 2 MFT2
Number Sign 612100 AUTISM, SUSCEPTIBILITY TO, 15; AUTS15
Asterisk 612101 PHOSPHATIDYLINOSITOL 4-KINASE, TYPE 2, BETA; PI4K2B PHOSPHATIDYLINOSITOL 4-KINASE, TYPE II, BETA;; PI4KII-BETA
Asterisk 612102 MICRO RNA LET7G; MIRNLET7G LET7, C. ELEGANS, HOMOLOG OF, G; LET7G;; miRNA LET7G;; MIRLET7G
Asterisk 612103 OLIGONUCLEOTIDE/OLIGOSACCHARIDE-BINDING FOLD-CONTAINING PROTEIN 2A; OBFC2A SINGLE-STRANDED DNA-BINDING PROTEIN 2; SSB2
Asterisk 612104 OLIGONUCLEOTIDE/OLIGOSACCHARIDE-BINDING FOLD-CONTAINING PROTEIN 2B; OBFC2B SINGLE-STRANDED DNA-BINDING PROTEIN 1; SSB1
Asterisk 612105 KILLIN; KLLN
Asterisk 612106 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 40; ZBTB40 KIAA0478
Asterisk 612107 SOLUTE CARRIER FAMILY 17 (VESICULAR NUCLEOTIDE TRANSPORTER), MEMBER 9; SLC17A9 CHROMOSOME 20 OPEN READING FRAME 59; C20ORF59
Percent 612108 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1; FGQTL1
Number Sign 612109 OCULOAURICULAR SYNDROME; OCACS MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT, OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONE DYSTROPHY, AND ANOMALIES OF THE EXTERNAL EAR;; SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME
Percent 612110 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 9; BMND9
Asterisk 612111 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8; TNFAIP8 SCC-S2;; OXI-ALPHA
Asterisk 612112 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8-LIKE 2; TNFAIP8L2 TNFAIP8-LIKE 2; TIPE2
Percent 612113 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 10; BMND10
Percent 612114 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 11; BMND11
Asterisk 612115 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; ARHGEF3 XPLN
Asterisk 612116 UBIQUITIN-SPECIFIC PROTEASE 22; USP22 KIAA1063
Asterisk 612117 MICRO RNA 143; MIR143 miRNA143;; MIRN143
Asterisk 612118 IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 3; IQSEC3 KIAA1110
Number Sign 612119 TREHALASE DEFICIENCY TREHALOSE INTOLERANCE
Asterisk 612120 CELL DEATH-INDUCING DFFA-LIKE EFFECTOR C; CIDEC CELL DEATH ACTIVATOR CIDE3;; FAT-SPECIFIC PROTEIN 27; FSP27
Asterisk 612121 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 1; PNPLA1
Asterisk 612122 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 7; PNPLA7 NTE-LIKE 1; NTEL1
Asterisk 612123 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 8; PNPLA8 PNPLA-GAMMA;; PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, INTRACELLULAR MEMBRANE-ASSOCIATED, GAMMA; IPLA2-GAMMA;; IPLA2-2
Number Sign 612124 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12
Asterisk 612125 SERTA DOMAIN-CONTAINING PROTEIN 3; SERTAD3 RPA-BINDING TRANSACTIVATOR 1; RBT1
Number Sign 612126 GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;; PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;; PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;; DYSTONIA 18; DYT18
Asterisk 612127 17-BETA-HYDROXYSTEROID DEHYDROGENASE XIII; HSD17B13 SHORT-CHAIN DEHYDROGENASE/REDUCTASE 9; SCDR9
Asterisk 612128 RAS-LIKE, FAMILY 10, MEMBER B; RASL10B RAS-RELATED PROTEIN 17; RRP17
Asterisk 612129 INDOLEAMINE 2,3-DIOXYGENASE 2; IDO2 INDOLEAMINE 2,3-DIOXYGENASE-LIKE 1; INDOL1;; INDOLEAMINE-PYRROLE 2,3-DIOXYGENASE-LIKE 1
Asterisk 612130 GENE AMPLIFIED IN ESOPHAGEAL CANCER 1; GAEC1
Asterisk 612131 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 9; DHRS9 SDR FAMILY, MEMBER 9;; RETINOL DEHYDROGENASE, TRACHEOBRONCHIAL EPITHELIAL CELL-SPECIFIC; RDHTBE;; 3-ALPHA-HYDROXYSTEROID DEHYDROGENASE;; 3-ALPHA-HSD;; RDHL
Number Sign 612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT
Asterisk 612133 TRANSCRIPTION FACTOR NFE4; NFE4 ERYTHROID-SPECIFIC FACTOR p22-NFE4;; GAMMA-GLOBIN GENE ACTIVATOR;; FETAL GLOBIN ACTIVATOR NFE4 p14-NFE4, INCLUDED
Asterisk 612134 GLUCURONIC ACID EPIMERASE; GLCE D-GLUCURONYL C5-EPIMERASE;; C5-EPIMERASE;; HEPARIN/HEPARAN SULFATE GLUCURONIC ACID C5-EPIMERASE;; HEPARAN SULFATE D-GLUCURONYL C5-EPIMERASE; HSEPI;; KIAA0836
Asterisk 612135 CALCIUM-BINDING TYROSINE PHOSPHORYLATION-REGULATED PROTEIN; CABYR FIBROUSHEATHIN 2; FSP2
Asterisk 612136 ENOYL COENZYME A HYDRATASE DOMAIN-CONTAINING PROTEIN 1; ECHDC1
Asterisk 612137 RING FINGER PROTEIN 146; RNF146 DACTYLIDIN;; IDUNA
Number Sign 612138 EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA; EBSPA EBS WITH PYLORIC ATRESIA
Asterisk 612139 PHOSPHATIDYLINOSITOL 3,4,5-TRISPHOSPHATE-DEPENDENT RAC EXCHANGER 2; PREX2 DEP DOMAIN-CONTAINING PROTEIN 2; DEPDC2
Asterisk 612140 SEPTIN 14; SEPT14 SEPT14/EGFR FUSION GENE, INCLUDED
Asterisk 612141 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 4A; EPB41L4A EPB41L4;; NBL4
Asterisk 612142 MICRO RNA LET7A2; MIRLET7A2 LET7, C. ELEGANS, HOMOLOG OF, A2; LET7A2;; miRNA LET7A2;; MIRNLET7A2
Asterisk 612143 MICRO RNA LET7A3; MIRNLET7A3 LET7, C. ELEGANS, HOMOLOG OF, A3; LET7A3;; miRNA LET7A3;; MIRLET7A3
Asterisk 612144 MICRO RNA LET7C; MIRLET7C LET7, C. ELEGANS, HOMOLOG OF, C; LET7C;; miRNA LET7C;; MIRNLET7C
Asterisk 612145 MICRO RNA LET7D; MIRNLET7D LET7, C. ELEGANS, HOMOLOG OF, D; LET7D;; miRNA LET7D;; MIRLET7D
Asterisk 612146 MICRO RNA LET7F1; MIRLET7F1 LET7, C. ELEGANS, HOMOLOG OF, F1; LET7F1;; miRNA LET7F1;; MIRNLET7F1
Asterisk 612147 MYOSIN LIGHT CHAIN KINASE 3; MYLK3 MLCK, CARDIAC
Asterisk 612148 MICRO RNA LET7I; MIRNLET7I LET7, C. ELEGANS, HOMOLOG OF, I; LET7I;; miRNA LET7I;; MIRLET7I
Asterisk 612149 RNA-BINDING PROTEIN FOX1, C. ELEGANS, HOMOLOG OF, 2; RBFOX2 FOX1, C. ELEGANS, HOMOLOG OF, 2; FOX2;; RNA-BINDING MOTIF PROTEIN 9; RBM9;; REPRESSOR OF TAMOXIFEN TRANSCRIPTIONAL ACTIVITY; RTA
Asterisk 612150 MICRO RNA 25; MIR25 miRNA25;; MIRN25
Asterisk 612151 MICRO RNA 26A1; MIR26A1 miRNA26A1;; MIRN26A1;; MIR26A
Asterisk 612152 MICRO RNA 26B; MIR26B miRNA26B;; MIRN26B
Asterisk 612153 MICRO RNA 27A; MIR27A miRNA27A;; MIRN27A;; MIR27
Asterisk 612154 MICRO RNA 28; MIR28 miRNA28;; MIRN28
Asterisk 612155 MICRO RNA 31; MIR31 miRNA31;; MIRN31
Asterisk 612156 MICRO RNA 33A; MIR33A MIRN33A;; miRNA33A;; MIR33
Asterisk 612157 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 1; SENP1 SENP1/MESDC2 FUSION GENE, INCLUDED
Number Sign 612158 CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION, INCLUDED; CMH23, INCLUDED
Asterisk 612159 RABPHILIN 3A; RPH3A KIAA0985
Number Sign 612160 HISTIOCYTOMA, ANGIOMATOID FIBROUS
Percent 612161 ANEURYSM, INTRACRANIAL BERRY, 7; ANIB7
Percent 612162 ANEURYSM, INTRACRANIAL BERRY, 8; ANIB8
Asterisk 612163 TWO-PORE SEGMENT CHANNEL 2; TPCN2 TWO-PORE CHANNEL 2; TPC2
Number Sign 612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4
Percent 612165 RETINITIS PIGMENTOSA 29; RP29
Asterisk 612166 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 2; SLC39A2 ZRT- AND IRT-LIKE PROTEIN 2; ZIP2
Asterisk 612167 WD REPEAT-CONTAINING PROTEIN 48; WDR48 p80;; KIAA1449;; USP1-ASSOCIATED FACTOR 1; UAF1
Asterisk 612168 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 3; SLC39A3 ZRT- AND IRT-LIKE PROTEIN 3; ZIP3
Asterisk 612169 Fc FRAGMENT OF IgG, LOW AFFINITY IIc, RECEPTOR FOR; FCGR2C Fc-GAMMA-RIIC;; FcRIIC;; CD32C
Asterisk 612170 MUCIN 19, OLIGOMERIC; MUC19
Asterisk 612171 REPRIMO; RPRM
Asterisk 612172 DEAD BOX POLYPEPTIDE 23; DDX23 PRP28, S. CEREVISIAE, HOMOLOG OF; PRP28;; U5 snRNP-SPECIFIC PROTEIN, 100-KD;; U5-100KD
Asterisk 612173 SPERM-ASSOCIATED ANTIGEN 16; SPAG16 PF20
Asterisk 612174 CALCIUM-BINDING PROTEIN 39; CAB39 MO25-ALPHA
Asterisk 612175 CALCIUM-BINDING PROTEIN 39-LIKE PROTEIN; CAB39L CAB39-LIKE PROTEIN;; MO25-BETA
Asterisk 612176 MYB-LIKE, SWIRM, AND MPN DOMAINS-CONTAINING PROTEIN 1; MYSM1 HISTONE H2A DEUBIQUITINASE; 2ADUB;; KIAA1915
Asterisk 612177 RNA, 7SL, CYTOPLASMIC 1; RN7SL1 7SL;; 7L1A
Asterisk 612178 HEN1 METHYLTRANSFERASE, ARABIDOPSIS, HOMOLOG OF; HENMT1 HEN1;; CHROMOSOME 1 OPEN READING FRAME 59; C1ORF59
Asterisk 612179 RNA, 7SL, CYTOPLASMIC 2; RN7SL2 7L1C;; 7L30.1
Asterisk 612180 RNA, 7SL, CYTOPLASMIC 3; RN7SL3 7L30.2
Asterisk 612181 MUCIN 13, CELL SURFACE-ASSOCIATED; MUC13
Asterisk 612182 N-ACETYLTRANSFERASE 2; NAT2 ARYLAMIDE ACETYLASE 2; AAC2
Asterisk 612183 G PROTEIN-COUPLED RECEPTOR 176; GPR176
Asterisk 612184 CASK-INTERACTING PROTEIN 1; CASKIN1 KIAA1306
Asterisk 612185 CASK-INTERACTING PROTEIN 2; CASKIN2 KIAA1139
Asterisk 612186 DMX-LIKE 2; DMXL2 RABCONNECTIN 3; RC3;; KIAA0856
Asterisk 612187 HEME-RESPONSIVE GENE 1 HRG1
Asterisk 612188 VACUOLAR PROTEIN SORTING 39, YEAST, HOMOLOG OF; VPS39 VAM6, YEAST, HOMOLOG OF; VAM6;; TRAP1-LIKE PROTEIN; TLP;; KIAA0770
Asterisk 612189 PHENAZINE BIOSYNTHESIS-LIKE PROTEIN DOMAIN-CONTAINING PROTEIN; PBLD MAWD-BINDING PROTEIN; MAWBP;; MAWDBP
Asterisk 612190 MTOR-ASSOCIATED PROTEIN LST8; MLST8 G-BETA-LIKE PROTEIN; GBL;; G PROTEIN BETA SUBUNIT-LIKE PROTEIN;; LST8, S. CEREVISIAE, HOMOLOG OF; LST8;; WAT1, S. POMBE, HOMOLOG OF; WAT1;; POP3, S. POMBE, HOMOLOG OF; POP3
Asterisk 612191 MICROSEMINOPROTEIN, PROSTATE-ASSOCIATED; MSMP PC3 PROSTATE CANCER CELL-SECRETED MICROPROTEIN; PSMP
Asterisk 612192 ZINC FINGER PROTEIN 57, MOUSE, HOMOLOG OF; ZFP57
Asterisk 612193 CARDIOMYOPATHY-ASSOCIATED PROTEIN 5; CMYA5 MYOSPRYN;; TRIPARTITE MOTIF-CONTAINING PROTEIN 76; TRIM76
Asterisk 612194 RAS-RELATED GTP-BINDING PROTEIN A; RRAGA RAGA;; FIP1
Asterisk 612195 ABHYDROLASE DOMAIN-CONTAINING 1; ABHD1 LUNG ALPHA/BETA HYDROLASE 1; LABH1
Asterisk 612196 ABHYDROLASE DOMAIN-CONTAINING 2; ABHD2 LUNG ALPHA/BETA HYDROLASE 2; LABH2
Asterisk 612197 ABHYDROLASE DOMAIN-CONTAINING 3; ABHD3 LUNG ALPHA/BETA HYDROLASE 3; LABH3
Percent 612198 DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA
Number Sign 612199 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1; CRMCC1 CRMCC;; COATS PLUS SYNDROME
Asterisk 612200 CHROMOSOME 3 OPEN READING FRAME 58; C3ORF58 DELETED IN AUTISM 1; DIA1
Number Sign 612201 ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6
Asterisk 612202 SRY-BOX 7; SOX7
Asterisk 612203 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 5; NAP1L5 DOWNREGULATED IN LIVER MALIGNANCY; DRLM
Asterisk 612204 AUTOPHAGY 9, S. CEREVISIAE, HOMOLOG OF, A; ATG9A APG9-LIKE 1; APG9L1
Asterisk 612205 AUTOPHAGY 9, S. CEREVISIAE, HOMOLOG OF, B; ATG9B ENDOTHELIAL NITRIC OXIDE SYNTHASE 3 ANTISENSE; NOS3AS;; APG9-LIKE 2; APG9L2 SONE, INCLUDED
Asterisk 612206 FOUR-JOINTED BOX, DROSOPHILA, HOMOLOG OF, 1; FJX1
Asterisk 612207 GOLGI PHOSPHOPROTEIN 3; GOLPH3 GOLGI-ASSOCIATED PROTEIN, 34-KD; GPP34;; MITOCHONDRIAL DNA ABSENCE-SENSITIVE FACTOR; MIDAS
Asterisk 612208 GOLGI PHOSPHOPROTEIN 3-LIKE; GOLPH3L GPP34-RELATED; GPP34R
Asterisk 612209 MESOGENIN 1; MSGN1
Asterisk 612210 HIGHLY UPREGULATED IN LIVER CANCER; HULC
Asterisk 612211 TUMOR SUPPRESSOR CANDIDATE 5; TUSC5 LOST1
Asterisk 612212 PLASMINOGEN-LIKE A; PLGLA PLASMINOGEN-RELATED GENE A; PRGA
Asterisk 612213 SEMINAL PLASMA PROTEIN, BOVINE, HOMOLOG OF, 1; BSPH1 BSP, BOVINE, HOMOLOG OF, 1;; BINDER OF SPERM PROTEIN, BOVINE, HOMOLOG OF, 1;; BOVINE SEMINAL PLASMA PROTEIN-LIKE 1
Asterisk 612214 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 4; RGL4 RALGDS-RELATED, RABBIT, HOMOLOG OF; RGR
Asterisk 612215 SMALL NUCLEOLAR RNA HOST GENE 6; SNHG6 U87 HOST GENE; U87HG
Asterisk 612216 SMALL NUCLEOLAR RNA, C/D BOX, 87; SNORD87 U87
Asterisk 612217 CHROMOSOME 6 OPEN READING FRAME 106; C6ORF106
Asterisk 612218 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 38; ZBTB38
Number Sign 612219 EWING SARCOMA; ES NEUROEPITHELIOMA, PERIPHERAL, INCLUDED; PNE, INCLUDED;; ASKIN TUMOR, INCLUDED
Asterisk 612220 BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE 3; B4GALNT3 B4GalNAcT3
Percent 612221 STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10
Asterisk 612222 GALACTOSAMINE-6-SULFATE SULFATASE; GALNS N-ACETYLGALACTOSAMINE-SULFATE SULFATASE
Percent 612223 STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11
Percent 612224 STATURE QUANTITATIVE TRAIT LOCUS 12; STQTL12
Number Sign 612225 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9
Percent 612226 STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13
Number Sign 612227 DIABETES MELLITUS, KETOSIS-PRONE; KPD
Percent 612228 STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14
Number Sign 612229 COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 18
Percent 612230 COLORECTAL CANCER, SUSCEPTIBILITY TO, 5; CRCS5 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 10
Percent 612231 COLORECTAL CANCER, SUSCEPTIBILITY TO, 6; CRCS6 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 8q23
Percent 612232 COLORECTAL CANCER, SUSCEPTIBILITY TO, 7; CRCS7 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 11
Number Sign 612233 LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4 MITOCHONDRIAL HSP60 CHAPERONOPATHY;; MITCHAP60 DISEASE
Asterisk 612234 CALCIUM HOMEOSTASIS MODULATOR 1; CALHM1 FAMILY WITH SEQUENCE SIMILARITY 26, MEMBER C; FAM26C
Asterisk 612235 CALCIUM HOMEOSTASIS MODULATOR 2; CALHM2 FAMILY WITH SEQUENCE SIMILARITY 26, MEMBER B; FAM26B
Asterisk 612236 ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT PROTEIN 2; ERGIC2 CDA14;; PTX1
Number Sign 612237 CHONDROSARCOMA, EXTRASKELETAL MYXOID EMC
Percent 612238 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 4; IS4
Percent 612239 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 5; IS5
Number Sign 612240 ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7
Percent 612241 INFLAMMATORY BOWEL DISEASE 12; IBD12
Number Sign 612242 CHROMOSOME 10q22.3-q23.2 DELETION SYNDROME JUVENILE POLYPOSIS OF INFANCY, INCLUDED;; JUVENILE POLYPOSIS, INFANTILE, INCLUDED
Asterisk 612243 ADHESION G PROTEIN-COUPLED RECEPTOR G6; ADGRG6 G PROTEIN-COUPLED RECEPTOR 126; GPR126;; VASCULAR-INDUCIBLE G PROTEIN-COUPLED RECEPTOR; VIGR
Number Sign 612244 INFLAMMATORY BOWEL DISEASE 13; IBD13
Number Sign 612245 INFLAMMATORY BOWEL DISEASE 14; IBD14
Asterisk 612246 CD302 ANTIGEN; CD302 DEC205-ASSOCIATED C-TYPE LECTIN 1; DCL1;; KIAA0022
Number Sign 612247 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN CROUZONODERMOSKELETAL SYNDROME
Asterisk 612248 ZINC FINGER PROTEIN 627; ZNF627
Asterisk 612249 THROMBOSPONDIN TYPE-1 DOMAIN-CONTAINING PROTEIN 7A; THSD7A KIAA0960
Asterisk 612250 G PROTEIN-COUPLED RECEPTOR 161: GPR161
Number Sign 612251 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10
Asterisk 612252 C-TYPE LECTIN DOMAIN FAMILY 9, MEMBER A; CLEC9A DENDRITIC CELL NATURAL KILLER LECTIN GROUP RECEPTOR 1; DNGR1
Number Sign 612253 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11; SLEB11
Percent 612254 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 12; SLEB12
Percent 612255 INFLAMMATORY BOWEL DISEASE 15; IBD15
Asterisk 612256 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 1; MAST1 SYNTROPHIN-ASSOCIATED SERINE/THREONINE KINASE; SAST;; KIAA0973
Asterisk 612257 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 2; MAST2 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE, 205-KD; MAST205;; KIAA0807
Asterisk 612258 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 3; MAST3 KIAA0561
Percent 612259 INFLAMMATORY BOWEL DISEASE 16; IBD16
Number Sign 612260 MYD88 DEFICIENCY; MYD88D PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY;; RECURRENT PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY
Number Sign 612261 INFLAMMATORY BOWEL DISEASE 17; IBD17
Percent 612262 INFLAMMATORY BOWEL DISEASE 18; IBD18
Percent 612263 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7; CMM7
Asterisk 612264 MANNOSE RECEPTOR, C-TYPE, 2; MRC2 ENDO180;; UROKINASE-TYPE PLASMINOGEN ACTIVATOR RECEPTOR-ASSOCIATED PROTEIN; UPARAP;; UPAR-ASSOCIATED PROTEIN;; CD280;; KIAA0709
Asterisk 612265 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER A; FAM120A OXIDATIVE STRESS-ASSOCIATED SRC ACTIVATOR; OSSA;; CHROMOSOME 9 OPEN READING FRAME 10; C9ORF10;; KIAA0183
Asterisk 612266 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER B; FAM120B PPARG CONSTITUTIVE COACTIVATOR 1; PGCC1;; CONSTITUTIVE COACTIVATOR OF PPARG; CCPG;; KIAA1838
Number Sign 612267 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10 SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR
Asterisk 612268 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 5; TTLL5 SRC1- AND TIF2-ASSOCIATED BINDING PROTEIN; STAMP;; KIAA0998
Number Sign 612269 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5
Asterisk 612270 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 4; CDCA4 HEMATOPOIETIC PROGENITOR PROTEIN; HEPP
Number Sign 612271 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11 MELANESIAN BLOND HAIR;; SKIN/HAIR/EYE PIGMENTATION 11, BLUE/NONBLUE EYES
Caret 612272 MOVED TO 608644
Caret 612273 MOVED TO 611884
Percent 612274 CILIARY DYSKINESIA, PRIMARY, 8; CILD8 CILIARY DYSKINESIA, PRIMARY, 8, WITH OR WITHOUT SITUS INVERSUS
Asterisk 612275 GAMETOGENETIN-BINDING PROTEIN 2; GGNBP2 DIOXIN-INDUCIBLE FACTOR 3; DIF3;; LARYNGEAL CARCINOMA RELATED-GENE 1; LCRG1;; LZK1
Asterisk 612276 YRDC DOMAIN-CONTAINING PROTEIN; YRDC YRDC, E. COLI, HOMOLOG OF;; ISCHEMIA/REPERFUSION-INDUCIBLE PROTEIN; IRIP
Asterisk 612277 ADAMTS-LIKE PROTEIN 2; ADAMTSL2 KIAA0605
Number Sign 612278 INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 19; IBD19
Percent 612279 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 6; GEFSP6 GEFS+, TYPE 6; GEFS+6
Asterisk 612280 FUCOSIDASE, ALPHA-L, 1; FUCA1 ALPHA-L-FUCOSIDASE 1;; FUCOSIDASE, ALPHA-L, TISSUE; FUCA
Number Sign 612281 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6; ARCI6 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, NIPAL4-RELATED
Asterisk 612282 ZINC FINGER PROTEIN 804A; ZNF804A CHROMOSOME 2 OPEN READING FRAME 10; C2ORF10
Asterisk 612283 PROTEIN C; PROC PC
Number Sign 612284 MECKEL SYNDROME, TYPE 6; MKS6
Number Sign 612285 JOUBERT SYNDROME 9; JBTS9 JOUBERT SYNDROME 9/15, DIGENIC, INCLUDED
Number Sign 612286 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1; NPHLOP1
Number Sign 612287 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; NPHLOP2
Percent 612288 INFLAMMATORY BOWEL DISEASE 20; IBD20
Number Sign 612289 FONTAINE PROGEROID SYNDROME; FPS GORLIN-CHAUDHRY-MOSS SYNDROME; GCMS;; PROGEROID SYNDROME, CONGENITAL, PETTY TYPE;; CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA, DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL INTELLIGENCE
Number Sign 612290 MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT, INCLUDED
Number Sign 612291 JOUBERT SYNDROME 8; JBTS8
Number Sign 612292 BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME BIRK-BAREL SYNDROME;; MENTAL RETARDATION WITH HYPOTONIA AND FACIAL DYSMORPHISM
Percent 612293 POROKERATOSIS 5, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK5 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 3; DSAP3
Asterisk 612294 DEP DOMAIN-CONTAINING PROTEIN 7; DEPDC7 TR2
Asterisk 612295 CHROMOSOME 11 OPEN READING FRAME 46; C11ORF46 ADP-RIBOSYLATION FACTOR 7 EFFECTOR PROTEIN; ARF7EP
Asterisk 612296 LOC283267 GENE LOC283267
Asterisk 612297 CHROMOSOME 11 OPEN READING FRAME 41; C11ORF41 G2
Asterisk 612298 TRIPARTITE MOTIF-CONTAINING PROTEIN 44; TRIM44 MC7
Asterisk 612299 COMM DOMAIN-CONTAINING PROTEIN 9; COMMD9 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 9
Number Sign 612300 HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY; HACD59 CD59 DEFICIENCY
Number Sign 612301 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 OSTEOPETROSIS, OSTEOCLAST-POOR, WITH HYPOGAMMAGLOBULINEMIA
Asterisk 612302 ADHESION G PROTEIN-COUPLED RECEPTOR A1; ADGRA1 G PROTEIN-COUPLED RECEPTOR 123; GPR123;; KIAA1828
Asterisk 612303 ADHESION G PROTEIN-COUPLED RECEPTOR A3; ADGRA3 G PROTEIN-COUPLED RECEPTOR 125; GPR125
Number Sign 612304 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4 PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE;; PROC DEFICIENCY, AUTOSOMAL RECESSIVE
Asterisk 612305 ADHESION G PROTEIN-COUPLED RECEPTOR E4, PSEUDOGENE; ADGRE4P EMR4, MOUSE, HOMOLOG OF; EMR4;; G PROTEIN-COUPLED RECEPTOR 127; GPR127;; FIRE
Percent 612306 THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1; TSHQTL1 THYROTROPIN QUANTITATIVE TRAIT LOCUS 1
Asterisk 612307 ADHESION G PROTEIN-COUPLED RECEPTOR G7; ADGRG7 G PROTEIN-COUPLED RECEPTOR 128; GPR128
Asterisk 612308 ZINC FINGER AND BTB DOMAIN-CONTAINING 4; ZBTB4 KIAA1538
Asterisk 612309 COAGULATION FACTOR V; F5 PROTEIN C COFACTOR; PCCF;; ACTIVATED PROTEIN C COFACTOR;; APC COFACTOR;; LABILE FACTOR FACTOR V LEIDEN, INCLUDED
Number Sign 612310 PREMATURE OVARIAN FAILURE 6; POF6
Percent 612311 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 5 ADHD5;; MOTOR TIMING QUANTITATIVE TRAIT LOCUS
Percent 612312 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 6 ADHD6;; DIGIT SPAN QUANTITATIVE TRAIT LOCUS
Number Sign 612313 GLASS SYNDROME; GLASS CHROMOSOME 2q32-q33 DELETION SYNDROME
Asterisk 612314 GLUTATHIONE S-TRANSFERASE, OMEGA-2; GSTO2
Asterisk 612315 KERATIN 6C, TYPE II; KRT6C K6C;; KB12;; KERATIN 6E; KRT6E; K6E;; KERATIN 6H; K6H
Asterisk 612316 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3A; ATAD3A
Asterisk 612317 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3B; ATAD3B TOB3;; AAA-TOB3;; KIAA1273
Number Sign 612318 PSEUDOFOLLICULITIS BARBAE PFB;; PILI INCARNATI;; INGROWN HAIRS
Number Sign 612319 SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE; SPG35 FATTY ACID HYDROXYLASE-ASSOCIATED NEURODEGENERATION; FAHN;; LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT DYSTONIA
Asterisk 612320 CUB DOMAIN-CONTAINING PROTEIN 2; CDCP2
Asterisk 612321 DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 5; DCDC5 KIAA1493
Asterisk 612322 FAST KINASE DOMAINS 2; FASTKD2 FAST KINASE DOMAIN-CONTAINING PROTEIN 2;; KIAA0971
Asterisk 612323 INNER MITOCHONDRIAL MEMBRANE PEPTIDASE, SUBUNIT 1, S. CEREVISIAE, HOMOLOG OF; IMMP1L IMP1, S. CEREVISIAE, HOMOLOG OF; IMP1;; IMP1-LIKE
Asterisk 612324 COILED-COIL DOMAIN-CONTAINING PROTEIN 34; CCDC34 NY-REN-41
Asterisk 612325 INTESTINAL CELL KINASE; ICK MAK-RELATED KINASE; MRK;; KIAA0936
Asterisk 612326 TRANSCRIPTION FACTOR 25; TCF25 NUCLEAR LOCALIZED PROTEIN 1; NULP1;; KIAA1049
Asterisk 612327 MANNOSIDASE, ENDO-ALPHA; MANEA ENDO-ALPHA-1,2-MANNOSIDASE;; ENDOMANNOSIDASE;; ENDO
Asterisk 612328 COILED-COIL DOMAIN-CONTAINING PROTEIN 73: CCDC73 NY-SAR-79
Asterisk 612329 MICRO RNA 30A; MIR30A miRNA30A;; MIRN30A
Asterisk 612330 MICRO RNA 610; MIRN610 miRNA610;; MIR610
Asterisk 612331 LIN7, C. ELEGANS, HOMOLOG OF, B; LIN7B VERTEBRATE LIN7 HOMOLOG 2; VELI2;; MAMMALIAN LIN7 HOMOLOG 2; MALS2
Asterisk 612332 LIN7, C. ELEGANS, HOMOLOG OF, C; LIN7C VERTEBRATE LIN7 HOMOLOG 3; VELI3;; MAMMALIAN LIN7 HOMOLOG 3; MALS3
Asterisk 612333 PROGRAMMED CELL DEATH 11; PDCD11 APOPTOSIS-LINKED GENE 4; ALG4;; NF-KAPPA-B-BINDING PROTEIN; NFBP;; KIAA0185
Asterisk 612334 N-ACYL PHOSPHATIDYLETHANOLAMINE-HYDROLYZING PHOSPHOLIPASE D; NAPEPLD N-ACYL PHOSPHATIDYLETHANOLAMINE PHOSPHOLIPASE D
Percent 612335 SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT; SPG38
Number Sign 612336 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT; THPH5
Number Sign 612337 MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22 CHROMOSOME 1q43-q44 DELETION SYNDROME, INCLUDED;; CHROMOSOME 1qter DELETION SYNDROME, INCLUDED
Asterisk 612338 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 1; GGTLC1 GGT, TYPE II-M;; GGTL6;; GGTLA4
Asterisk 612339 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 2; GGTLC2 GGT, TYPE III;; GGTL4
Asterisk 612340 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 3; GGTLC3
Asterisk 612341 GAMMA-GLUTAMYLTRANSFERASE 6; GGT6
Asterisk 612342 GAMMA-GLUTAMYLTRANSFERASE 7; GGT7 GGTL3;; GGTL5;; GGT4
Percent 612343 MUSICAL APTITUDE QUANTITATIVE TRAIT LOCUS
Asterisk 612344 ZINC FINGER PROTEIN 385B; ZNF385B ZINC FINGER PROTEIN 533; ZNF533
Number Sign 612345 CHROMOSOME 2q31.2 DELETION SYNDROME
Asterisk 612346 GAMMA-GLUTAMYLTRANSFERASE 1; GGT1 GGT
Number Sign 612347 JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2
Percent 612348 THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR; THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR, INCLUDED
Asterisk 612349 PHENYLALANINE HYDROXYLASE; PAH
Number Sign 612350 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3; EDSSPD3 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE; SCD-EDS
Asterisk 612351 FORKHEAD BOX I3; FOXI3
Asterisk 612352 STAM-BINDING PROTEIN-LIKE 1; STAMBPL1 AMSH-LIKE PROTEIN; AMSHLP;; AMSH-FAMILY PROTEIN; AMSHFP;; KIAA1373
Percent 612353 POROKERATOSIS 6, MULTIPLE TYPES; POROK6 POROKERATOSIS 6, DISSEMINATED SUPERFICIAL;; POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 4; DSAP4
Percent 612354 INFLAMMATORY BOWEL DISEASE 21; IBD21
Asterisk 612355 MICAL C TERMINUS-LIKE PROTEIN; MICALCL ERK2-BINDING TESTICULAR PROTEIN 1; EBITEIN1
Number Sign 612356 HEPARIN COFACTOR II DEFICIENCY THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY; THPH10;; HCF II DEFICIENCY;; HCF2 DEFICIENCY
Percent 612357 MAJOR AFFECTIVE DISORDER 8; MAFD8 BIPOLAR AFFECTIVE DISORDER
Asterisk 612358 KININOGEN 1; KNG1 KININOGEN; KNG HIGH MOLECULAR WEIGHT KININOGEN, INCLUDED; HMWK, INCLUDED; HK, INCLUDED;; LOW MOLECULAR WEIGHT KININOGEN, INCLUDED; LMWK, INCLUDED; LK, INCLUDED;; BRADYKININ, INCLUDED; BK, INCLUDED;; FITZGERALD FACTOR, INCLUDED;; FLAUJEAC FACTOR, INCLUDED;; WILLIAMS FACTOR, INCLUDED
Number Sign 612359 COWDEN SYNDROME 2; CWS2
Asterisk 612360 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 5; NDUFAF5 CHROMOSOME 20 OPEN READING FRAME 7; C20ORF7
Percent 612361 SCHIZOPHRENIA 14 SCZD14;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 2q32-RELATED
Number Sign 612362 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12 OBESITY, SUSCEPTIBILITY TO
Percent 612363 ALANINE AMINOTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 ALTQTL1
Percent 612364 ALANINE AMINOTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 ALTQTL2
Percent 612365 GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 GGTQTL1
Percent 612366 GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 GGTQTL2
Percent 612367 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 ALPQTL2
Percent 612368 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 ALPQTL3
Percent 612369 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 4 ALPQTL4
Number Sign 612370 HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5
Number Sign 612371 MAJOR AFFECTIVE DISORDER 7; MAFD7 BIPOLAR AFFECTIVE DISORDER
Percent 612372 MAJOR AFFECTIVE DISORDER 9; MAFD9 BIPOLAR AFFECTIVE DISORDER
Asterisk 612373 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 3: SLC29A3 EQUILIBRATIVE NUCLEOSIDE TRANSPORTER 3; ENT3
Asterisk 612374 TRANSMEMBRANE PROTEIN 173; TMEM173 STIMULATOR OF INTERFERON GENES; STING;; MPYS;; MEDIATOR OF IRF3 ACTIVATION; MITA;; ENDOPLASMIC RETICULUM INTERFERON STIMULATOR; ERIS
Asterisk 612375 AXIN INTERACTOR, DORSALIZATION-ASSOCIATED; AIDA AXIN-INTERACTING PROTEIN AND DORSALIZATION ANTAGONIST
Number Sign 612376 ACUTE PROMYELOCYTIC LEUKEMIA; APL LEUKEMIA, ACUTE PROMYELOCYTIC
Asterisk 612377 COMM DOMAIN-CONTAINING PROTEIN 6; COMMD6 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 6
Percent 612378 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 13; SLEB13
Number Sign 612379 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES;; CDG Iq; CDGIq
Percent 612380 INFLAMMATORY BOWEL DISEASE 22; IBD22
Percent 612381 INFLAMMATORY BOWEL DISEASE 23; IBD23
Asterisk 612382 MEDIATOR COMPLEX SUBUNIT 10; MED10 NUT2, S. CEREVISIAE, HOMOLOG OF
Asterisk 612383 MEDIATOR COMPLEX SUBUNIT 11; MED11 HSPC296
Asterisk 612384 MEDIATOR COMPLEX SUBUNIT 18; MED18 TRAP/MEDIATOR COMPLEX SUBUNIT p28b; P28B
Asterisk 612385 MEDIATOR COMPLEX SUBUNIT 19; MED19 LUNG CANCER METASTASIS-RELATED PROTEIN 1; LCMR1;; DT2P1G7
Asterisk 612386 FERROCHELATASE; FECH HEME SYNTHASE;; HEME SYNTHETASE;; IRON CHELATASE
Number Sign 612387 SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2
Percent 612388 SARCOIDOSIS, SUSCEPTIBILITY TO, 3; SS3
Number Sign 612389 PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B
Number Sign 612390 PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C
Caret 612391 MOVED TO 602782
Asterisk 612392 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 6; NDUFAF6 CHROMOSOME 8 OPEN READING FRAME 38; C8ORF38
Asterisk 612393 WAS PROTEIN HOMOLOG ASSOCIATED WITH ACTIN, GOLGI MEMBRANES, AND MICROTUBULES; WHAMM WASP HOMOLOG-ASSOCIATED PROTEIN WITH ACTIN, MEMBRANES, AND MICROTUBULES;; WAS PROTEIN HOMOLOGY REGION 2 DOMAIN-CONTAINING PROTEIN 1; WHDC1;; WH2 DOMAIN-CONTAINING PROTEIN 1;; KIAA1971
Number Sign 612394 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS LYSYL HYDROXYLASE 3 DEFICIENCY;; LH3 DEFICIENCY
Asterisk 612395 CHOLINE KINASE, BETA; CHKB CKB;; CHOLINE KINASE-LIKE PROTEIN; CHKL;; CHOLINE/ETHANOLAMINE KINASE, BETA; CKEKB;; ETHANOLAMINE KINASE, BETA; EKB
NULL 612396 ALLANTOICASE; ALLC
Asterisk 612397 COLLAGEN, TYPE VI, ALPHA-4, PSEUDOGENE 1; COL6A4P1 DUAL INTRACELLULAR VON WILLEBRAND FACTOR DOMAIN A-CONTAINING PROTEIN; DVWA;; DIVA;; LOC344875
Asterisk 612398 RAB-ASSOCIATED PROTEIN RAB21; RAB21 KIAA0118
Asterisk 612399 TRANSDUCIN-LIKE ENHANCER OF SPLIT 6; TLE6 GROUCHO-RELATED GENE 6; GRG6
Number Sign 612400 OSTEOARTHRITIS SUSCEPTIBILITY 5; OS5 OSTEOARTHRITIS OF HIP
Percent 612401 OSTEOARTHRITIS SUSCEPTIBILITY 6; OS6 OSTEOARTHRITIS OF KNEE
Asterisk 612402 ALS2 C-TERMINAL-LIKE PROTEIN; ALS2CL
Asterisk 612403 RAS-LIKE, FAMILY 11, MEMBER A; RASL11A
Asterisk 612404 RAS-LIKE, FAMILY 11, MEMBER B; RASL11B
Asterisk 612405 ADP-RIBOSYLATION FACTOR-LIKE 9; ARL9
Percent 612406 DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE; DYT17
Asterisk 612407 REGULATOR OF G PROTEIN SIGNALING 21; RGS21
Asterisk 612408 PARASPECKLE COMPONENT 1; PSPC1 PARASPECKLE PROTEIN 1; PSP1
Asterisk 612409 RNA-BINDING MOTIF PROTEIN 14; RBM14 PARASPECKLE PROTEIN 2; PSP2;; COACTIVATOR ACTIVATOR; COAA;; SYT-INTERACTING PROTEIN; SIP
Percent 612410 PSORIASIS 10, SUSCEPTIBILITY TO; PSORS10
Asterisk 612411 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 4; FAT4 FATJ
Asterisk 612412 SPERMATOGENESIS AND CENTRIOLE-ASSOCIATED PROTEIN 1-LIKE; SPATC1L CHROMOSOME 21 OPEN READING FRAME 56; C21ORF56
Asterisk 612413 RNA-BINDING MOTIF PROTEIN 7; RBM7
Asterisk 612414 LEUCINE-RICH TRANSMEMBRANE O-METHYLTRANSFERASE; LRTOMT LEUCINE-RICH REPEAT-CONTAINING PROTEIN 51; LRRC51;; CATECHOL-O-METHYL-TRANSFERASE-2; COMT2 LEUCINE-RICH TRANSMEMBRANE O-METHYLTRANSFERASE 1, INCLUDED; LRTOMT1, INCLUDED;; LEUCINE-RICH TRANSMEMBRANE O-METHYLTRANSFERASE 2, INCLUDED; LRTOMT2, INCLUDED
Asterisk 612415 RAS-ASSOCIATED PROTEIN 24; RAB24
Number Sign 612416 FACTOR XI DEFICIENCY F11 DEFICIENCY;; PLASMA THROMBOPLASTIN ANTECEDENT DEFICIENCY;; PTA DEFICIENCY;; ROSENTHAL SYNDROME
Percent 612417 NARCOLEPSY 4, SUSCEPTIBILITY TO; NRCLP4
Asterisk 612418 TRANSMEMBRANE PROTEIN 70; TMEM70
Asterisk 612419 CARTILAGE INTERMEDIATE LAYER PROTEIN 2; CILP2
Asterisk 612420 ACTIN FILAMENT-ASSOCIATED PROTEIN 1-LIKE PROTEIN 2; AFAP1L2 AFAP1-LIKE PROTEIN 2;; XB130;; KIAA1914
Percent 612421 ALOPECIA, ANDROGENETIC, 3; AGA3
Number Sign 612422 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3
Number Sign 612423 PREKALLIKREIN DEFICIENCY PKK DEFICIENCY;; FLETCHER FACTOR DEFICIENCY
Asterisk 612424 EYES SHUT, DROSOPHILA, HOMOLOG OF; EYS SPACEMAKER; SPAM
Asterisk 612425 SHUGOSHIN-LIKE 2; SGOL2 SHUGOSHIN 2; SGO2;; TRIPIN
Asterisk 612426 CHROMOSOME 16 OPEN READING FRAME 75; C16ORF75 RMI2;; BLM-ASSOCIATED PROTEIN, 18-KD; BLAP18
Asterisk 612427 RNA-BINDING MOTIF PROTEIN 25; RBM25 ARG/GLU/ASP-RICH PROTEIN, 120-KD; RED120
Asterisk 612428 RNA-BINDING MOTIF PROTEIN 38; RBM38 RNPC1
Asterisk 612429 ZINC FINGER PROTEIN 300; ZNF300
Asterisk 612430 RNA-BINDING MOTIF PROTEIN 22; RBM22
Percent 612431 DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27
Asterisk 612432 WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 3; WIPF3 CR16
Percent 612433 DEAFNESS, AUTOSOMAL RECESSIVE 45; DFNB45
Asterisk 612434 CYSTEINE-RICH SECRETORY PROTEIN, LCCL DOMAIN-CONTAINING, 2; CRISPLD2
Asterisk 612435 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 3A1; SLCO3A1 ORGANIC ANION TRANSPORTER D; OATPD;; ORGANIC ANION TRANSPORTER 3A1; OATP3A1
Asterisk 612436 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 4A1; SLCO4A1 ORGANIC ANION TRANSPORTER E; OATPE;; ORGANIC ANION TRANSPORTER 4A1; OATP4A1
Number Sign 612437 EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B
Number Sign 612438 LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6 LEUKODYSTROPHY, HYPOMYELINATING, WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM; HABC
Asterisk 612439 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 3; ARFGAP3
Caret 612440 MOVED TO 607694
Asterisk 612441 ALPHA-1,6-MANNOSYL-GLYCOPROTEIN BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME B; MGAT5B UDP-N-ACETYLGLUCOSAMINE:ALPHA-1,6-D-MANNOSIDE BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE;; GNT-VB;; GNT-IX
Asterisk 612442 SECRETION DEFICIENT 22, S. CEREVISIAE, HOMOLOG OF, A; SEC22A SEC22L2
Caret 612443 MOVED TO 612319
Number Sign 612444 CILIARY DYSKINESIA, PRIMARY, 9; CILD9 CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS
NULL 612445 SCOLIOSIS, ARACHNODACTYLY, AND BLINDNESS
Number Sign 612446 COMPLEMENT COMPONENT 6 DEFICIENCY; C6D C6 DEFICIENCY COMPLEMENT COMPONENT 6 DEFICIENCY, SUBTOTAL, INCLUDED;; C6 DEFICIENCY, SUBTOTAL, INCLUDED
Number Sign 612447 SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
Percent 612448 AGE-RELATED HEARING IMPAIRMENT 1; ARHI1 PRESBYCUSIS 1
Asterisk 612449 GEN1, DROSOPHILA, HOMOLOG OF; GEN1
Asterisk 612450 HBS1-LIKE PROTEIN; HBS1L HBS1, S. CEREVISIAE, HOMOLOG OF;; ERF3-SIMILAR PROTEIN; ERFS;; KIAA1038
Asterisk 612451 RING FINGER PROTEIN 114; RNF114 ZINC FINGER PROTEIN 313; ZNF313
Asterisk 612452 KAT8 REGULATORY NSL COMPLEX, SUBUNIT 1; KANSL1 MSL1V1;; KIAA1267
Asterisk 612453 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 10; MEGF10 KIAA1780
Asterisk 612454 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 11; MEGF11 KIAA1781
Asterisk 612455 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 12; SLC5A12 SODIUM-COUPLED MONOCARBOXYLATE TRANSPORTER 2; SMCT2
Asterisk 612456 APOLIPOPROTEIN L DOMAIN-CONTAINING 1; APOLD1 VASCULAR EARLY RESPONSE GENE; VERGE
Asterisk 612457 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 3B; ARID3B ARID-CONTAINING PROTEIN 3B;; DEAD RINGER, DROSOPHILA, HOMOLOG-LIKE 2; DRIL2;; BDP;; DEAD RINGER, DROSOPHILA, HOMOLOG OF, 2
Asterisk 612458 ACTIN-LIKE 6B; ACTL6B ACTIN-RELATED PROTEIN, ALPHA;; ARPN-ALPHA;; BAF53B
Percent 612459 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13; BMIQ13
Number Sign 612460 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14 OBESITY, SUSCEPTIBILITY TO
Asterisk 612461 ACTIVITY-REGULATED CYTOSKELETON-ASSOCIATED PROTEIN; ARC KIAA0278
Number Sign 612462 PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C PHP IC
Number Sign 612463 PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP ALBRIGHT HEREDITARY OSTEODYSTROPHY WITHOUT MULTIPLE HORMONE RESISTANCE
Asterisk 612464 ARRESTIN DOMAIN-CONTAINING 3; ARRDC3 THIOREDOXIN-BINDING PROTEIN-2-LIKE INDUCIBLE MEMBRANE; TLIMP;; KIAA1376
Asterisk 612465 TBC1 DOMAIN FAMILY, MEMBER 4; TBC1D4 AKT SUBSTRATE, 160-KD; AS160;; KIAA0603
Asterisk 612466 GUANYLATE-BINDING PROTEIN 4; GBP4 GUANYLATE-BINDING PROTEIN 3, MOUSE, HOMOLOG OF
Asterisk 612467 GUANYLATE-BINDING PROTEIN 6; GBP6 GUANYLATE-BINDING PROTEIN 4, MOUSE, HOMOLOG OF; GBP4
Asterisk 612468 GUANYLATE-BINDING PROTEIN 7; GBP7 GUANYLATE-BINDING PROTEIN 7, MOUSE, HOMOLOG OF
Number Sign 612469 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, MENTAL RETARDATION, AND OBESITY SYNDROME; WAGRO WAGRO SYNDROME;; WAGR SYNDROME WITH OBESITY;; CHROMOSOME 11p13-p12 DELETION SYNDROME
Asterisk 612470 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR, ATF-LIKE 3; BATF3 SMALL NUCLEAR FACTOR ISOLATED FROM T CELLS, 21-KD;; p21(SNFT)
Asterisk 612471 ALANINE-GLYOXYLATE AMINOTRANSFERASE 2; AGXT2 AGT2;; BETA-ALANINE PYRUVATE AMINOTRANSFERASE;; BETA-ALAAT II
Asterisk 612472 METHYLTRANSFERASE-LIKE 3; METTL3 MT-A70;; IME4, S. CEREVISIAE, HOMOLOG OF
Asterisk 612473 PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 4 PEBP4;; COUSIN OF RKIP 1; CORK1
Number Sign 612474 CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
Number Sign 612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME
Asterisk 612476 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR, ATF-LIKE; BATF B-CELL ACTIVATING TRANSCRIPTION FACTOR;; BATF1;; SFA2
Asterisk 612477 IQ MOTIF-CONTAINING PROTEIN G; IQCG IQCG/NUP98 FUSION GENE, INCLUDED
Asterisk 612478 N-TERMINAL EF-HAND CALCIUM-BINDING PROTEIN 3; NECAB3 EFCBP3;; NEK2-INTERACTING PROTEIN 1; NIP1;; AMYLOID BETA PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 2; APBA2BP;; X11L-BINDING PROTEIN 51; XB51;; SYNAPTOTAGMIN-INTERACTING PROTEIN 3; STIP3;; SYNAPTOTAGMIN-INTERACTING PROTEIN 2; SYTIP2
Caret 612479 MOVED TO 603075 AND 603029
Asterisk 612480 TCDD-INDUCIBLE POLY(ADP-RIBOSE) POLYMERASE; TIPARP
Asterisk 612481 POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 12; PARP12 ZC3HDC1;; FLJ22693
Asterisk 612482 RING FINGER PROTEIN 43; RNF43 RNF124
Asterisk 612483 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 3; FAT3
Asterisk 612484 RIBONUCLEASE, RNase A FAMILY, 7; RNASE7
Asterisk 612485 RIBONUCLEASE, RNase A FAMILY, 8; RNASE8 RNASE8, PLACENTAL
Asterisk 612486 DACHSOUS, DROSOPHILA, HOMOLOG OF, 2; DCHS2 CADHERIN J, INCLUDED; CDHJ, INCLUDED;; PROTOCADHERIN J, INCLUDED; PCDHJ, INCLUDED
Asterisk 612487 RING FINGER PROTEIN 31; RNF31 ZINC, IN-BETWEEN-RING FINGER, AND UBIQUITIN-ASSOCIATED DOMAINS; ZIBRA;; HOIL1-INTERACTING PROTEIN; HOIP
Asterisk 612488 RING FINGER PROTEIN 38; RNF38
Asterisk 612489 RING FINGER PROTEIN 24; RNF24 GOLIATH-LIKE PROTEIN (C3CH4 TYPE); G1L
Asterisk 612490 RING FINGER PROTEIN 181; RNF181
Asterisk 612491 APAF1-INTERACTING PROTEIN; APIP CGI29;; MMRP19
Asterisk 612492 UBIQUITIN-SPECIFIC PROTEASE 30; USP30
Asterisk 612493 CANOPY FGF SIGNALING REGULATOR 1; CNPY1 CANOPY 1, ZEBRAFISH, HOMOLOG OF
Asterisk 612494 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 10-LIKE PROTEIN; ARHGEF10L GRINCHGEF;; KIAA1626
Asterisk 612495 UBIQUITIN-CONJUGATING ENZYME E2C-BINDING PROTEIN; UBE2CBP H10BH
Asterisk 612496 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 19; ARHGEF19 WEAKLY SIMILAR TO RHOGEF5; WGEF
Asterisk 612497 TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE NUCLEAR PROTEIN 1 TGFB-INDUCIBLE NUCLEAR PROTEIN 1; TINP1;; NSA2, S. CEREVISIAE, HOMOLOG OF; NSA2;; HUMAN SEQUENCE SIMILAR TO YEAST 29; HUSSY29
Asterisk 612498 ADENYLOSUCCINATE SYNTHASE-LIKE 1; ADSSL1
Asterisk 612499 DIMETHYLADENOSINE TRANSFERASE 1-LIKE; DIMT1L DIM1, S. CEREVISIAE, HOMOLOG OF; DIM1;; HUMAN SEQUENCE SIMILAR TO YEAST 5; HUSSY5
Asterisk 612500 DEAD BOX POLYPEPTIDE 52; DDX52 ROK1, S. CEREVISIAE, HOMOLOG OF; ROK1;; HUMAN SEQUENCE SIMILAR TO YEAST 19; HUSSY19
Asterisk 612501 UBIQUITIN-CONJUGATING ENZYME E2Q 2; UBE2Q2 LOC92912
Asterisk 612502 COLLECTIN 11; COLEC11 COLLECTIN, KIDNEY, 1; CLK1
Asterisk 612503 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 5; ABCA5 KIAA1888
Asterisk 612504 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 6; ABCA6
Asterisk 612505 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 8; ABCA8 KIAA0822
Asterisk 612506 UBIQUITIN-CONJUGATING ENZYME E2R 2; UBE2R2 UBIQUITIN-CONJUGATING ENZYME UBC3B; UBC3B
Asterisk 612507 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 9; ABCA9
Asterisk 612508 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 10; ABCA10
Asterisk 612509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 10; ABCC10 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 7; MRP7
Asterisk 612510 ATP-BINDING CASSETTE, SUBFAMILY F, MEMBER 2; ABCF2 HUMAN SEQUENCE SIMILAR TO YEAST 18; HUSSY18
Asterisk 612511 MICRO RNA 101-1; MIRN101-1 miRNA101-1;; MIR101-1
Asterisk 612512 MICRO RNA 101-2; MIRN101-2 miRNA101-2;; MIR101-2
Number Sign 612513 CHROMOSOME 2p16.1-p15 DELETION SYNDROME
Percent 612514 SPECIFIC LANGUAGE IMPAIRMENT 4; SLI4
Asterisk 612515 DDB1- AND CUL4-ASSOCIATED FACTOR 17; DCAF17 CHROMOSOME 2 OPEN READING FRAME 37; C2ORF37
Asterisk 612516 UVEAL AUTOANTIGEN WITH COILED-COIL DOMAINS AND ANKYRIN REPEATS; UACA NUCLING
Asterisk 612517 DYNEIN, AXONEMAL, ASSEMBLY FACTOR 2; DNAAF2 KINTOUN, MEDAKA, HOMOLOG OF; KTU;; CHROMOSOME 14 OPEN READING FRAME 104; C14ORF104
Number Sign 612518 CILIARY DYSKINESIA, PRIMARY, 10; CILD10 CILIARY DYSKINESIA, PRIMARY, 10, WITH OR WITHOUT SITUS INVERSUS
Asterisk 612519 SOLUTE CARRIER FAMILY 35, MEMBER D3; SLC35D3
Number Sign 612520 DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20
Percent 612521 DIABETES MELLITUS, INSULIN-DEPENDENT, 21; IDDM21
Number Sign 612522 DIABETES MELLITUS, INSULIN-DEPENDENT, 22; IDDM22
Asterisk 612523 IQ MOTIF-CONTAINING PROTEIN H: IQCH NYD-SP5
Asterisk 612524 RIBONUCLEASE P/MRP, 21-KD SUBUNIT; RPP21
Percent 612525 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 5; IHPS5
Number Sign 612526 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 3; BSCL3;; LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 3
Number Sign 612527 DIAMOND-BLACKFAN ANEMIA 4; DBA4
Number Sign 612528 DIAMOND-BLACKFAN ANEMIA 5; DBA5
Number Sign 612529 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2 AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2
Number Sign 612530 CHROMOSOME 1q41-q42 DELETION SYNDROME HOLOPROSENCEPHALY 10, INCLUDED; HPE10, INCLUDED
Asterisk 612531 THAP DOMAIN-CONTAINING PROTEIN 2; THAP2
Asterisk 612532 THAP DOMAIN-CONTAINING PROTEIN 3; THAP3
Asterisk 612533 THAP DOMAIN-CONTAINING PROTEIN 4; THAP4
Asterisk 612534 THAP DOMAIN-CONTAINING PROTEIN 5; THAP5
Asterisk 612535 THAP DOMAIN-CONTAINING PROTEIN 6; THAP6
Asterisk 612536 THAP DOMAIN-CONTAINING PROTEIN 8; THAP8
Asterisk 612537 THAP DOMAIN-CONTAINING PROTEIN 9; THAP9
Asterisk 612538 THAP DOMAIN-CONTAINING PROTEIN 10; THAP10
Number Sign 612539 SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42
Number Sign 612540 MYOPATHY, CONGENITAL, COMPTON-NORTH; MYPCN
Number Sign 612541 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4 DURSUN SYNDROME, INCLUDED;; PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT, INCLUDED
Number Sign 612542 VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1
Asterisk 612543 UBIQUITIN-SPECIFIC PROTEASE 36; USP36 KIAA1453
Asterisk 612544 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 2; ABLIM2 KIAA1808
Asterisk 612545 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 26; WBSCR26
Asterisk 612546 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 27; WBSCR27
Asterisk 612547 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 28; WBSCR28
Asterisk 612548 TRIPARTITE MOTIF-CONTAINING PROTEIN 50; TRIM50 TRIM50A
Asterisk 612549 TRIPARTITE MOTIF-CONTAINING PROTEIN 73; TRIM73 TRIM50B
Asterisk 612550 TRIPARTITE MOTIF-CONTAINING PROTEIN 74; TRIM74 TRIM50C
Number Sign 612551 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4 END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO, INCLUDED
Asterisk 612552 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 4; ZBED4 BED-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 4;; KIAA0637
Asterisk 612553 MICRO RNA 370; MIR370 miRNA370;; MIRN370
Percent 612554 MYOPIA 16, AUTOSOMAL DOMINANT; MYP16
Number Sign 612555 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, INCLUDED;; OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, INCLUDED
Number Sign 612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1 ADIPONECTIN DEFICIENCY, INCLUDED;; HYPOADIPONECTINEMIA, INCLUDED
Percent 612557 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 3 CLLS3
Percent 612558 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 4 CLLS4
Percent 612559 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 5 CLLS5
Number Sign 612560 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12; BMND12
Number Sign 612561 DIAMOND-BLACKFAN ANEMIA 6; DBA6 AASE-SMITH SYNDROME II
Number Sign 612562 DIAMOND-BLACKFAN ANEMIA 7; DBA7
Number Sign 612563 DIAMOND-BLACKFAN ANEMIA 8; DBA8
Asterisk 612564 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 9; TXNDC9 PHOSDUCIN-LIKE PROTEIN 3; PHLP3
Asterisk 612565 RAS-ASSOCIATED PROTEIN RAB1B; RAB1B
Percent 612566 INFLAMMATORY BOWEL DISEASE 24; IBD24
Number Sign 612567 INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25 INFLAMMATORY BOWEL DISEASE, EARLY-ONSET, AUTOSOMAL RECESSIVE
Asterisk 612568 SPIC TRANSCRIPTION FACTOR; SPIC
Asterisk 612569 CELL DIVISION CYCLE AND APOPTOSIS REGULATOR 1; CCAR1 CELL CYCLE AND APOPTOSIS REGULATORY PROTEIN 1; CARP1
Asterisk 612570 FIBRILLIN 2; FBN2
Percent 612571 LUNG CANCER SUSCEPTIBILITY 3; LNCR3 ADENOCARCINOMA OF LUNG, SUSCEPTIBILITY TO
Number Sign 612572 RETINITIS PIGMENTOSA 46; RP46 RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE, IDH3B-RELATED
Percent 612573 MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 1; MPVQTL1
Percent 612574 MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 2; MPVQTL2 PLATELET COUNT QUANTITATIVE TRAIT LOCUS 1
Percent 612575 MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 3; MPVQTL3
Number Sign 612576 CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3
Number Sign 612577 AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11
Percent 612578 STATURE QUANTITATIVE TRAIT LOCUS 15; STQTL15
Percent 612579 STATURE QUANTITATIVE TRAIT LOCUS 16; STQTL16
Number Sign 612580 MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3
Number Sign 612581 MENTAL RETARDATION, AUTOSOMAL DOMINANT 4; MRD4
Number Sign 612582 CHROMOSOME 6pter-p24 DELETION SYNDROME
Asterisk 612583 SPINSTER, DROSOPHILA, HOMOLOG OF, 1; SPNS1 SPIN1
Asterisk 612584 SPINSTER, DROSOPHILA, HOMOLOG OF, 2; SPNS2
Asterisk 612585 CLPTM1-LIKE PROTEIN; CLPTM1L CISPLATIN RESISTANCE-RELATED PROTEIN 9; CRR9
Percent 612586 ANEURYSM, INTRACRANIAL BERRY, 9; ANIB9
Percent 612587 ANEURYSM, INTRACRANIAL BERRY, 10; ANIB10
Asterisk 612588 BCL2-ASSOCIATED TRANSCRIPTION FACTOR 1; BCLAF1 BTF;; KIAA0164
Percent 612589 COLORECTAL CANCER, SUSCEPTIBILITY TO, 8; CRCS8 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 14q
Percent 612590 COLORECTAL CANCER, SUSCEPTIBILITY TO, 9; CRCS9 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 16q
Number Sign 612591 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q
Percent 612592 COLORECTAL CANCER, SUSCEPTIBILITY TO, 11; CRCS11 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 20p
Percent 612593 LUNG CANCER SUSCEPTIBILITY 4; LNCR4
Percent 612594 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2; MS2
Percent 612595 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3; MS3
Percent 612596 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 4; MS4
Asterisk 612597 CYTOTOXIC AND REGULATORY T-CELL MOLECULE; CRTAM CLASS I MAJOR HISTOCOMPATIBILITY COMPLEX-RESTRICTED T-CELL-ASSOCIATED MOLECULE
Asterisk 612598 RING FINGER PROTEIN 11; RNF11
Percent 612599 PSORIASIS 11, SUSCEPTIBILITY TO; PSORS11
Asterisk 612600 RNA METHYLTRANSFERASE-LIKE 1; RNMTL1 HC90
Asterisk 612601 RET FINGER PROTEIN-LIKE 4A; RFPL4A RNF210
Asterisk 612602 RNA-BINDING MOTIF PROTEIN 15B; RBM15B ONE TWENTY TWO PROTEIN 3; OTT3;; HUMAGCGB
Asterisk 612603 LATE CORNIFIED ENVELOPE PROTEIN 1A; LCE1A LATE ENVELOPE PROTEIN 1; LEP1 LATE CORNIFIED ENVELOPE GENE CLUSTER, INCLUDED;; LCE GENE CLUSTER, INCLUDED
Asterisk 612604 LATE CORNIFIED ENVELOPE PROTEIN 1B; LCE1B LATE ENVELOPE PROTEIN 2; LEP2
Asterisk 612605 LATE CORNIFIED ENVELOPE 1C; LCE1C LATE ENVELOPE PROTEIN 3; LEP3
Asterisk 612606 LATE CORNIFIED ENVELOPE PROTEIN 1D; LCE1D LATE ENVELOPE PROTEIN 4; LEP4
Asterisk 612607 LATE CORNIFIED ENVELOPE PROTEIN 1E; LCE1E LATE ENVELOPE PROTEIN 5; LEP5
Asterisk 612608 LATE CORNIFIED ENVELOPE PROTEIN 1F; LCE1F LATE ENVELOPE PROTEIN 6; LEP6
Asterisk 612609 LATE CORNIFIED ENVELOPE PROTEIN 2A; LCE2A LATE ENVELOPE PROTEIN 9; LEP9
Asterisk 612610 LATE CORNIFIED ENVELOPE PROTEIN 2B; LCE2B LATE ENVELOPE PROTEIN 10; LEP10;; XP5
Asterisk 612611 LATE CORNIFIED ENVELOPE PROTEIN 2C; LCE2C LATE ENVELOPE PROTEIN 11; LEP11
Asterisk 612612 LATE CORNIFIED ENVELOPE PROTEIN 2D; LCE2D LATE ENVELOPE PROTEIN 12; LEP12
Asterisk 612613 LATE CORNIFIED ENVELOPE PROTEIN 3A; LCE3A LATE ENVELOPE PROTEIN 13; LEP13
Asterisk 612614 LATE CORNIFIED ENVELOPE PROTEIN 3B; LCE3B LATE ENVELOPE PROTEIN 14; LEP14
Asterisk 612615 LATE CORNIFIED ENVELOPE PROTEIN 3C; LCE3C LATE ENVELOPE PROTEIN 15; LEP15
Asterisk 612616 LATE CORNIFIED ENVELOPE PROTEIN 3D; LCE3D LATE ENVELOPE PROTEIN 16; LEP16
Asterisk 612617 LATE CORNIFIED ENVELOPE PROTEIN 3E; LCE3E LATE ENVELOPE PROTEIN 17; LEP17
Asterisk 612618 LATE CORNIFIED ENVELOPE PROTEIN 4A; LCE4A LATE ENVELOPE PROTEIN 8; LEP8
Asterisk 612619 LATE CORNIFIED ENVELOPE PROTEIN 5A; LCE5A LATE ENVELOPE PROTEIN 18; LEP18
Asterisk 612620 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 6; RASSF6
Number Sign 612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5
Percent 612622 DIABETES MELLITUS, INSULIN-DEPENDENT, 23; IDDM23
Number Sign 612623 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2 PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO;; END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO
Number Sign 612624 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3 NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO;; END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO
Asterisk 612625 LMBR1 DOMAIN-CONTAINING PROTEIN 1: LMBRD1 LMBD1;; NES-INTERACTING PROTEIN; NESI
Number Sign 612626 CHROMOSOME 15q26-qter DELETION SYNDROME DRAYER SYNDROME
Percent 612627 SEIZURES, BENIGN FAMILIAL INFANTILE, 4; BFIS4 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 4; BFIC4
Number Sign 612628 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4; MVCD4 NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO
Percent 612629 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 4; ADIPQTL4
Number Sign 612630 HAIR MORPHOLOGY 1; HRM1 HAIR THICKNESS, VARIATION IN
Number Sign 612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
Percent 612632 USHER SYNDROME, TYPE IH; USH1H
Number Sign 612633 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5; MVCD5 RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO
Number Sign 612634 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6; MVCD6 NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO
Number Sign 612635 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7 PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO;; NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO;; NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO
Asterisk 612636 UNC80, C. ELEGANS, HOMOLOG OF; UNC80 CHROMOSOME 2 OPEN READING FRAME 21; C2ORF21;; KIAA1843
Percent 612637 FEBRILE SEIZURES, FAMILIAL, 10; FEB10 CONVULSIONS, FAMILIAL FEBRILE, 10
Asterisk 612638 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, 11; NDUFA11
Percent 612639 INFLAMMATORY BOWEL DISEASE 26; IBD26
Asterisk 612640 CHROMOSOME 10 OPEN READING FRAME 27; C10ORF27
Asterisk 612641 ANKYRIN 1; ANK1 ANKYRIN, ERYTHROID ANKYRIN-R, INCLUDED; ANK, INCLUDED;; ANKYRIN 1 MUSCLE-SPECIFIC ISOFORM, INCLUDED
Percent 612642 DEAFNESS, AUTOSOMAL DOMINANT 59; DFNA59
Number Sign 612643 DEAFNESS, AUTOSOMAL DOMINANT 3B; DFNA3B
Number Sign 612644 DEAFNESS, AUTOSOMAL DOMINANT 2B; DFNA2B
Number Sign 612645 DEAFNESS, AUTOSOMAL RECESSIVE 1B; DFNB1B
Asterisk 612646 METASTASIS-ASSOCIATED GENE IN COLON CANCER 1; MACC1
Asterisk 612647 RADIAL SPOKE HEAD 4, CHLAMYDOMONAS, HOMOLOG OF, A; RSPH4A
Asterisk 612648 RADIAL SPOKE HEAD 9, CHLAMYDOMONAS, HOMOLOG OF; RSPH9
Number Sign 612649 CILIARY DYSKINESIA, PRIMARY, 11; CILD11 CILIARY DYSKINESIA, PRIMARY, 11, WITHOUT SITUS INVERSUS
Number Sign 612650 CILIARY DYSKINESIA, PRIMARY, 12; CILD12 CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS
Number Sign 612651 ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO
Caret 612652 MOVED TO 219150
Number Sign 612653 SPHEROCYTOSIS, TYPE 4; SPH4 SPHEROCYTOSIS, HEREDITARY, 4; HS4
Asterisk 612654 TRICHOPLEIN; TCHP TRICHOPLEIN, KERATIN FILAMENT-BINDING;; MITOSTATIN
Asterisk 612655 TBC1 DOMAIN FAMILY, MEMBER 7; TBC1D7 CELL MIGRATION-INDUCING PROTEIN 23;; PIG51;; TBC7
Number Sign 612656 EPISODIC ATAXIA, TYPE 6; EA6
Number Sign 612657 CONE-ROD DYSTROPHY 12; CORD12
Asterisk 612658 TIGHT JUNCTION-ASSOCIATED PROTEIN 1; TJAP1 PROTEIN INCORPORATED LATER INTO TIGHT JUNCTIONS; PILT;; TIGHT JUNCTION PROTEIN 4; TJP4
Asterisk 612659 REGULATORY FACTOR X, 6; RFX6 RFXDC1
Asterisk 612660 REGULATORY FACTOR X, 7; RFX7 RFXDC2
Asterisk 612661 WD REPEAT-CONTAINING PROTEIN ANTISENSE TO TP53; WRAP53 TELOMERASE CAJAL BODY PROTEIN 1; TCAB1;; WD REPEAT-CONTAINING PROTEIN 79; WDR79
Asterisk 612662 TBC1 DOMAIN FAMILY, MEMBER 15; TBC1D15
Asterisk 612663 TRAF-INTERACTING PROTEIN WITH FORKHEAD-ASSOCIATED DOMAIN, FAMILY MEMBER B; TIFAB TIFA-RELATED PROTEIN
Asterisk 612664 RAS-LIKE AND ESTROGEN-REGULATED GROWTH INHIBITOR; RERG
Asterisk 612665 TESTIS-EXPRESSED GENE 101; TEX101 SPERMATOGENESIS-RELATED GENE; SGRG;; SCLERODERMA-ASSOCIATED AUTOANTIGEN;; TESTIS-SPECIFIC 101 REACTIVE PROTEIN; TES101RP
Asterisk 612666 DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE; DSTYK RECEPTOR-INTERACTING SERINE/THREONINE KINASE 5; RIPK5;; KIAA0472;; RECEPTOR-INTERACTING PROTEIN 5; RIP5;; DUSTY PROTEIN KINASE; DUSTYPK
Asterisk 612667 HOLLIDAY JUNCTION RECOGNITION PROTEIN; HJURP
Asterisk 612668 TASTE RECEPTOR, TYPE 2, MEMBER 43; TAS2R43 T2R52
Asterisk 612669 TASTE RECEPTOR, TYPE 2, MEMBER 31; TAS2R31 T2R53;; TASTE RECEPTOR, TYPE 2, MEMBER 44, FORMERLY; TAS2R44, FORMERLY
Caret 612670 MOVED TO 138900
Number Sign 612671 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 GOUT SUSCEPTIBILITY 4; GOUT4
Asterisk 612672 RAS-ASSOCIATED PROTEIN RAB10; RAB10
Asterisk 612673 RAS-ASSOCIATED PROTEIN RAB14; RAB14
Number Sign 612674 POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; PHARC
Asterisk 612675 SMALL CAJAL BODY-SPECIFIC RNA 15; SCARNA15 ACA45
Asterisk 612676 QUINOID DIHYDROPTERIDINE REDUCTASE; QDPR DIHYDROPTERIDINE REDUCTASE; DHPR
Asterisk 612677 PYRIN AND HIN DOMAIN FAMILY, MEMBER 1; PYHIN1 INTERFERON-INDUCIBLE PROTEIN X; IFIX
Asterisk 612678 CUGBP- AND ELAV-LIKE FAMILY, MEMBER 3; CELF3 TRINUCLEOTIDE REPEAT-CONTAINING GENE 4; TNRC4;; BRUNO-LIKE 1; BRUNOL1;; CUGBP- AND ETR3-LIKE FACTOR 3
Asterisk 612679 CUGBP- AND ELAV-LIKE FAMILY, MEMBER 4; CELF4 CUGBP- AND ETR3-LIKE FACTOR 4;; BRUNO-LIKE 4; BRUNOL4
Asterisk 612680 CUGBP- AND ELAV-LIKE FAMILY, MEMBER 5; CELF5 BRUNO-LIKE 5; BRUNOL5;; CUGBP- AND ETR3-LIKE FACTOR 5
Asterisk 612681 CUGBP- AND ELAV-LIKE FAMILY, MEMBER 6; CELF6 BRUNO-LIKE 6; BRUNOL6;; CUGBP- AND ETR3-LIKE FACTOR 6
Asterisk 612682 DORSAL REPULSIVE AXON GUIDANCE PROTEIN DRAXIN;; CHROMOSOME 1 OPEN READING FRAME 187; C1ORF187;; NEUCRIN
Asterisk 612683 TEKTIN 3; TEKT3 TESTICULAR MICROTUBULES-RELATED PROTEIN
Asterisk 612684 ISTHMIN 2, ZEBRAFISH, HOMOLOG OF; ISM2 THROMBOSPONDIN TYPE 1 DOMAIN-CONTAINING PROTEIN 3; THSD3;; THROMBOSPONDIN- AND AMOP-CONTAINING ISTHMIN-LIKE 1; TAIL1
Asterisk 612685 CALMODULIN-REGULATED SPECTRIN-ASSOCIATED PROTEIN 3; CAMSAP3 KIAA1543 GENE; KIAA1543;; NEZHA
Asterisk 612686 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 7; PLEKHA7
Asterisk 612687 RGM DOMAIN FAMILY, MEMBER B; RGMB DRAGON;; REPULSIVE GUIDANCE MOLECULE B
Asterisk 612688 RING FINGER PROTEIN 168; RNF168
Asterisk 612689 TIGHT JUNCTION PROTEIN 3; TJP3 ZONA OCCLUDENS 3; ZO3
Number Sign 612690 SPHEROCYTOSIS, TYPE 5; SPH5 SPHEROCYTOSIS, HEREDITARY, 5; HS5
Number Sign 612691 POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL; BTOP
Number Sign 612692 AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE; AGM6 AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT
Asterisk 612693 UBIQUITIN-RELATED MODIFIER 1, S. CEREVISIAE, HOMOLOG OF; URM1
Asterisk 612694 CYTOSOLIC THIOURIDYLASE, SUBUNIT 1; CTU1 ATP-BINDING DOMAIN PROTEIN 3; ATPBD3
Asterisk 612695 VAULT RNA 1-1; VTRNA1-1 HVG1;; VAULT RNA COMPONENT 1; VAULTRC1
Asterisk 612696 VAULT RNA 1-2; VTRNA1-2 HVG2;; VAULT RNA COMPONENT 2; VAULTRC2
Asterisk 612697 VAULT RNA 1-3; VTRNA1-3 HVG3;; VAULT RNA COMPONENT 3; VAULTRC3
Asterisk 612698 MICRO RNA 187; MIR187 MIRN187;; miRNA187
Asterisk 612699 RIMS-BINDING PROTEIN 3; RIMBP3 RIMBP3A;; RIMBP3.1;; KIAA1666
Asterisk 612700 RIMS-BINDING PROTEIN 3B; RIMBP3B RIMBP3.2
Asterisk 612701 RIMS-BINDING PROTEIN 3C; RIMBP3C RIMBP3.3
Number Sign 612702 HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6
Number Sign 612703 MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7
Asterisk 612704 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 1; RGPD1 RGP1
Asterisk 612705 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 2; RGPD2 RGP2
Asterisk 612706 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 3; RGPD3 RGP3
Asterisk 612707 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 4; RGPD4 RGP4
Asterisk 612708 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 5; RGPD5 RGP5;; BS63
Asterisk 612709 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 6; RGPD6 RGP6
Asterisk 612710 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 7; RGPD7 RGP7
Asterisk 612711 GRIP AND COILED-COIL DOMAIN-CONTAINING PROTEIN 2; GCC2 GCC PROTEIN, 185-KD; GCC185;; KIAA0336
Number Sign 612712 LEBER CONGENITAL AMAUROSIS 13; LCA13 RETINITIS PIGMENTOSA 53, INCLUDED; RP53, INCLUDED
Number Sign 612713 KAHRIZI SYNDROME; KHRZ MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE
Number Sign 612714 EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS
Percent 612715 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 2; DUH2
Number Sign 612716 DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY SEPIAPTERIN REDUCTASE DEFICIENCY; SRD;; SPR DEFICIENCY
Percent 612717 MYOPIA 15, AUTOSOMAL DOMINANT; MYP15
Number Sign 612718 CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY;; AGAT DEFICIENCY;; GATM DEFICIENCY;; CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY
Asterisk 612719 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE; PTS PTPS
Asterisk 612720 DEAH BOX POLYPEPTIDE 29; DHX29
Asterisk 612721 REGULATED ENDOCRINE-SPECIFIC PROTEIN 18 RESP18
Asterisk 612722 ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 3; ELP3 ELONGATION PROTEIN 3, S. CEREVISIAE, HOMOLOG OF;; KAT9
Asterisk 612723 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY H, MEMBER 2; PLEKHH2
Asterisk 612724 ALDOLASE B, FRUCTOSE-BISPHOSPHATE; ALDOB FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B;; ALDOLASE B; ALDB;; ALDOLASE 2; ALDO2
Asterisk 612725 PROTEIN PHOSPHATASE 6, CATALYTIC SUBUNIT; PPP6C
Percent 612726 HARDIKAR SYNDROME
Percent 612727 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 13; BMND13
Percent 612728 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 14; BMND14
Percent 612729 LEAN BODY MASS QUANTITATIVE TRAIT LOCUS 1; LBMQTL1
Asterisk 612730 SOLUTE CARRIER FAMILY 9 (SODIUM/HYDROGEN EXCHANGER), MEMBER 8; SLC9A8 SODIUM/HYDROGEN EXCHANGER 8; NHE8;; KIAA0939
Percent 612731 FACIOCARDIOMELIC SYNDROME
Asterisk 612732 COPROPORPHYRINOGEN OXIDASE; CPOX CPO;; CPX
Asterisk 612733 THO COMPLEX, SUBUNIT 5; THOC5 FMS-INTERACTING PROTEIN; FMIP;; PK1.3;; FSAP79
Asterisk 612734 TLX1 DIVERGENT GENE TD1
Asterisk 612735 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-3; HLA-DRB3 HLA-DR52
Number Sign 612736 CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY;; GAMT DEFICIENCY;; CREATINE DEFICIENCY SYNDROME DUE TO GAMT DEFICIENCY
Percent 612737 STATURE QUANTITATIVE TRAIT LOCUS 17; STQTL17
Asterisk 612738 SOLUTE CARRIER FAMILY 9, MEMBER 10; SLC9A10 SPERM-SPECIFIC SODIUM PROTON EXCHANGER
Asterisk 612739 SPERM ACROSOME-ASSOCIATED PROTEIN 1; SPACA1 SPERM ACROSOME MEMBRANE-ASSOCIATED PROTEIN 32; SAMP32
Number Sign 612740 PORPHYRIA, ACUTE HEPATIC DELTA-AMINOLEVULINATE DEHYDRATASE DEFICIENCY;; ALAD DEFICIENCY;; PORPHYRIA, ALAD;; PORPHOBILINOGEN SYNTHASE DEFICIENCY;; DOSS PORPHYRIA LEAD POISONING, SUSCEPTIBILITY TO, INCLUDED
Asterisk 612741 SNAIL, DROSOPHILA, HOMOLOG OF, 3; SNAI3 SNAIL3;; SMUC;; ZFP293
Asterisk 612742 MICRO RNA 181A1; MIR181A1 miRNA181A1;; MIRN181A1;; MIR213
Asterisk 612743 MICRO RNA 181A2; MIR181A2 miRNA181A2;; MIRN181A2
Asterisk 612744 MICRO RNA 181B1; MIR181B1 miRNA181B1;; MIRN181B1
Asterisk 612745 MICRO RNA 181B2; MIR181B2 miRNA181B2;; MIRN181B2
Asterisk 612746 MICRO RNA 181C; MIR181C miRNA181C;; MIRN181C
Asterisk 612747 TUFTELIN-INTERACTING PROTEIN 11; TFIP11 TUFTELIN-INTERACTING PROTEIN, 39-KD; TIP39;; NTR1, S. CEREVISIAE, HOMOLOG OF
Asterisk 612748 LYSOZYME-LIKE 2; LYZL2 LYSOZYME 2
Asterisk 612749 SPERM ACROSOME-ASSOCIATED PROTEIN 3; SPACA3 LYSOZYME-LIKE 3; LYZL3;; SPERM LYSOZYME-LIKE PROTEIN 1; SLLP1;; LYC3;; ALLP17
Asterisk 612750 LYSOZYME-LIKE 4; LYZL4
Asterisk 612751 LYSOZYME-LIKE 6; LYZL6
Asterisk 612752 CXXC FINGER PROTEIN 5; CXXC5 RETINOID-INDUCIBLE NUCLEAR FACTOR; RINF
Asterisk 612753 COLLAGEN AND CALCIUM-BINDING EGF DOMAIN-CONTAINING PROTEIN 1; CCBE1 KIAA1983
Asterisk 612754 GLUTAREDOXIN 3; GLRX3 GRX3;; PROTEIN KINASE C-INTERACTING COUSIN OF THIOREDOXIN; PICOT
Asterisk 612755 MITOCHONDRIAL DISTRIBUTION AND MORPHOLOGY 20, YEAST, HOMOLOG OF MDM20;; CHROMOSOME 12 OPEN READING FRAME 30; C12ORF30
Asterisk 612756 TESTICULAR CELL ADHESION MOLECULE 1; TCAM1
Asterisk 612757 GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED HIGH DENSITY LIPOPROTEIN-BINDING PROTEIN 1; GPIHBP1
Asterisk 612758 TRANSMEMBRANE ANTERIOR POSTERIOR TRANSFORMATION 1; TAPT1 CYTOMEGALOVIRUS gH FUSION RECEPTOR; CMVFR
Percent 612759 SYNESTHESIA SYNSTH
Asterisk 612760 SNF-RELATED KINASE; SNRK SNF1-RELATED KINASE;; KIAA0096
Asterisk 612761 SWI/SNF-RELATED, MATRIX-ASSOCIATED ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, DEAD/H BOX-CONTAINING, 1; SMARCAD1 KIAA1122;; ENHANCER TRAP LOCUS 1, MOUSE, HOMOLOG OF; ETL1;; HUMAN HELICASE 1; HEL1
Asterisk 612762 SUPPRESSOR OF TY 7-LIKE; SUPT7L SUPPRESSOR OF TY 7, S. CEREVISIAE, HOMOLOG OF, 7; SUPT7H;; SPTF-ASSOCIATED FACTOR 65-GAMMA; STAF65-GAMMA;; STAGA COMPLEX, 65-KD, GAMMA SUBUNIT;; SPT7L;; KIAA0764
Asterisk 612763 TRANSCRIPTIONAL ADAPTOR 1-LIKE; TADA1L HFI1/ADA1, YEAST, HOMOLOG OF;; SPT3-ASSOCIATED FACTOR 42; STAF42
Asterisk 612764 ISY1 SPLICING FACTOR, S. CEREVISIAE, HOMOLOG OF; ISY1 KIAA1160
Asterisk 612765 SFI1, YEAST, HOMOLOG OF; SFI1 SPINDLE ASSEMBLY-ASSOCIATED PROTEIN SFI1;; KIAA0542
Asterisk 612766 BRISC AND BRCA1 A COMPLEX, MEMBER 1; BABAM1 CHROMOSOME 19 OPEN READING FRAME 62; C19ORF62;; MEDIATOR OF RAP80 INTERACTIONS AND TARGETING, 40-KD; MERIT40;; NEW COMPONENT OF BRCA1 A COMPLEX 1; NBA1
Asterisk 612767 DEAH BOX POLYPEPTIDE 36; DHX36 G4 RESOLVASE 1; G4R1;; RNA HELICASE ASSOCIATED WITH AU-RICH ELEMENTS; RHAU;; KIAA1488
Asterisk 612768 FOLLICULIN-INTERACTING PROTEIN 2; FNIP2 FNIP1-LIKE PROTEIN; FNIPL;; METHYLGUANINE-INDUCED APOPTOSIS 1; MAPO1;; KIAA1450
Asterisk 612769 NONCODING NUCLEAR-ENRICHED ABUNDANT TRANSCRIPT 1; NEAT1 NONCODING RNA 84; NCRNA00084 TROPHOBLAST-DERIVED NONCODING RNA, INCLUDED; TNCRNA, INCLUDED
Asterisk 612770 PHOSPHATIDYLSERINE DECARBOXYLASE; PISD PSD;; PSSC
Asterisk 612771 DUAL OXIDASE MATURATION FACTOR 1; DUOXA1
Asterisk 612772 DUAL OXIDASE MATURATION FACTOR 2; DUOXA2
Asterisk 612773 BASAL CELL ADHESION MOLECULE; BCAM B-CELL ADHESION MOLECULE;; CD239;; MSK19
Asterisk 612774 TASTE RECEPTOR, TYPE 2, MEMBER 46; TAS2R46 T2R46;; T2R54
Number Sign 612775 CONE-ROD DYSTROPHY 9; CORD9
Percent 612776 HYPOGLOSSIA WITH SITUS INVERSUS HYPOGLOSSIA, ISOLATED, INCLUDED
NULL 612777 HYPOTONIA, SEIZURES, AND PRECOCIOUS PUBERTY
Asterisk 612778 SET DOMAIN-CONTAINING PROTEIN 2; SETD2 SET2;; HUNTINGTIN-INTERACTING PROTEIN B; HYPB;; HUNTINGTIN-BINDING PROTEIN, 231-KD; HBP231;; KIAA1732
Asterisk 612779 DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD DPD
Number Sign 612780 SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES SESAME SYNDROME;; EPILEPSY, ATAXIA, SENSORINEURAL DEAFNESS, AND TUBULOPATHY;; EAST SYNDROME
Number Sign 612781 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B IGHD IB;; DWARFISM OF SINDH
Number Sign 612782 IMMUNODEFICIENCY 9; IMD9 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1
Number Sign 612783 IMMUNODEFICIENCY 10; IMD10 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2;; STIM1 DEFICIENCY
Asterisk 612784 HUNTINGTIN-INTERACTING PROTEIN K HUNTINGTIN YEAST 2-HYBRID PROTEIN K; HYPK
NULL 612785 MEGARBANE-JALKH SYNDROME DEVELOPMENTAL DELAY, DYSMORPHIC FEATURES, NEONATAL SPONTANEOUS FRACTURES, WRINKLED SKIN, AND HEPATIC FAILURE
Asterisk 612786 CYCLIN Y; CCNY CYCLIN-FOLD PROTEIN 1; CFP1;; CYCLIN X; CCNX;; CHROMOSOME 10 OPEN READING FRAME 9; C10ORF9
Asterisk 612787 PSEUDOURIDYLATE SYNTHASE 10; PUS10 PSEUDOURIDINE SYNTHASE 10;; DOWNSTREAM OF BID; DOBI
Asterisk 612788 FORKHEAD BOX Q1; FOXQ1 HFH1
Percent 612789 DEAFNESS, AUTOSOMAL RECESSIVE 71; DFNB71
Asterisk 612790 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 28; ARHGEF28 RGNEF, MOUSE, HOMOLOG OF;; GUANINE NUCLEOTIDE EXCHANGE FACTOR, 190-KD;; p190RHOGEF;; KIAA1998;; RHO-INTERACTING PROTEIN 2; RIP2;; RhoGEF
Asterisk 612791 ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 3; ZKSCAN3 ZINC FINGER PROTEIN 306; ZNF306
Asterisk 612792 PHOSPHATIDYLSERINE SYNTHASE 1; PTDSS1 PSS1;; KIAA0024
Asterisk 612793 PHOSPHATIDYLSERINE SYNTHASE 2; PTDSS2 PSS2
Number Sign 612794 ATRIAL SEPTAL DEFECT 5; ASD5
Percent 612795 POLYUNSATURATED FATTY ACIDS PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; PUFAQTL1
Percent 612796 INFLAMMATORY BOWEL DISEASE 27; IBD27
Number Sign 612797 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12; HDLCQ12
Number Sign 612798 QUESTION MARK EARS, ISOLATED; QME EARS, PROMINENT AND CONSTRICTED;; COSMAN DEFORMITY OF THE AURICLE;; AURICULAR CLEFT, CONGENITAL
Asterisk 612799 GLUTAMYL-tRNA SYNTHETASE 2; EARS2 GLUTAMYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL GLURS;; KIAA1970
Asterisk 612800 CYSTEINYL-tRNA SYNTHETASE 2; CARS2 CYSTEINYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL CYSRS
Asterisk 612801 ISOLEUCYL-tRNA SYNTHETASE 2; IARS2 ISOLEUCYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL ILERS
Asterisk 612802 VALYL-tRNA SYNTHETASE 2; VARS2 VALYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL VALRS;; KIAA1885
Asterisk 612803 ASPARAGINYL-tRNA SYNTHETASE 2; NARS2 ASPARAGINYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL ASNRS
Asterisk 612804 SERYL-tRNA SYNTHETASE 2; SARS2 SERYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL SERRS
Asterisk 612805 THREONYL-tRNA SYNTHETASE 2; TARS2 THREONYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL THRRS
Asterisk 612806 G PROTEIN-COUPLED RECEPTOR 89B; GPR89B GOLGI pH REGULATOR; GPHR;; GPR89, TELOMERIC COPY
Asterisk 612807 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 1; LRFN1 SYNAPTIC ADHESION-LIKE MOLECULE 2; SALM2;; KIAA1484
Asterisk 612808 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 2; LRFN2 SYNAPTIC ADHESION-LIKE MOLECULE 1; SALM1;; KIAA1246
Asterisk 612809 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 3; LRFN3 SYNAPTIC ADHESION-LIKE MOLECULE 4; SALM4
Asterisk 612810 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 4; LRFN4 SYNAPTIC ADHESION-LIKE MOLECULE 3; SALM3
Asterisk 612811 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 5; LRFN5 SYNAPTIC ADHESION-LIKE MOLECULE 5; SALM5
Asterisk 612812 PROFILIN 3; PFN3
Number Sign 612813 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE; SEMDAG SEMD, AGGRECAN TYPE
Asterisk 612814 SPERMATOGENESIS-ASSOCIATED PROTEIN 18; SPATA18 SPERMATID-EXPRESSED GENE 1; SPETEX1
Asterisk 612815 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 13; ZDHHC13 HIP14-LIKE; HIP14L
Asterisk 612816 UTP18, S. CEREVISIAE, HOMOLOG OF; UTP18
Asterisk 612817 KRR1, YEAST, HOMOLOG OF; KRR1
Asterisk 612818 NUCLEOLAR AND SPINDLE-ASSOCIATED PROTEIN 1; NUSAP1 NUCLEOLAR PROTEIN ANKT; ANKT;; NUSAP
Asterisk 612819 NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 4, S. CEREVISIAE, HOMOLOG OF; NOC4L NOC4
Asterisk 612820 NEUROPLASTIN; NPTN STROMAL CELL-DERIVED FACTOR RECEPTOR 1; SDFR1 GLYCOPROTEIN, 55-KD, INCLUDED; GP55, INCLUDED;; NEUROPLASTIN 55, INCLUDED; NP55, INCLUDED;; GLYCOPROTEIN, 65-KD, INCLUDED; GP65, INCLUDED;; NEUROPLASTIN 65, INCLUDED; NP65, INCLUDED
Asterisk 612821 G PROTEIN-COUPLED RECEPTOR 89A; GPR89A GPR89, CENTROMERIC COPY
Asterisk 612822 UTP20, S. CEREVISIAE, HOMOLOG OF; UTP20 DOWNREGULATED IN METASTASIS; DRIM
Asterisk 612823 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1D; TAF1D TBP-ASSOCIATED FACTOR, RNA POLYMERASE I, 41-kD; TAFI41;; JOSEPHIN DOMAIN-CONTAINING 3; JOSD3
Asterisk 612824 SEC14-LIKE 3; SEC14L3 SEC14, S. CEREVISIAE, HOMOLOG OF, 3;; TOCOPHEROL-ASSOCIATED PROTEIN 2; TAP2
Asterisk 612825 SEC14-LIKE 4; SEC14L4 SEC14, S. CEREVISIAE, HOMOLOG OF, 4;; TOCOPHEROL-ASSOCIATED PROTEIN 3; TAP3
Asterisk 612826 SPHINGOSINE-1-PHOSPHATE PHOSPHATASE 1; SGPP1 SPP1;; SPPASE1
Asterisk 612827 SPHINGOSINE-1-PHOSPHATE PHOSPHATASE 2; SGPP2 SPHINGOSINE-1-PHOSPHATE PHOSPHOHYDROLASE 2; SPP2
Asterisk 612828 CCAAT/ENHANCER-BINDING PROTEIN, ZETA; CEBPZ CBF;; NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 1, S. CEREVISIAE, HOMOLOG OF; NOC1
Asterisk 612829 RAS-ASSOCIATED PROTEIN RAB3C; RAB3C
Asterisk 612830 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 3; DHRS3 SDR FAMILY, MEMBER 3;; RETSDR1
Asterisk 612831 17-BETA-HYDROXYSTEROID DEHYDROGENASE XI; HSD17B11 17-BETA-HSDXI;; RETSDR2;; PAN1B
Asterisk 612832 17-BETA-HYDROXYSTEROID DEHYDROGENASE XIV; HSD17B14 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 10; DHRS10;; SDR FAMILY, MEMBER 10;; RETSDR3
Asterisk 612833 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 7; DHRS7 SDR FAMILY, MEMBER 7;; RETSDR4
Asterisk 612834 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY B, MEMBER 1; PHLDB1 LL5A;; KIAA0638
Asterisk 612835 PHOSPHOLIPASE C, ETA-1; PLCH1 PHOSPHOLIPASE C LIKE-3; PLCL3;; KIAA1069
Asterisk 612836 PHOSPHOLIPASE C, ETA-2; PLCH2 PHOSPHOLIPASE C LIKE-4; PLCL4
Asterisk 612837 COQ9, S. CEREVISIAE, HOMOLOG OF; COQ9 CHROMOSOME 16 OPEN READING FRAME 49; C16ORF49
Number Sign 612838 BRUGADA SYNDROME 5; BRGDA5 CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED
Asterisk 612839 TET ONCOGENE FAMILY, MEMBER 2; TET2 KIAA1546
Number Sign 612840 LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3 LEUKOCYTE ADHESION DEFICIENCY 3;; LEUKOCYTE ADHESION DEFICIENCY 1 VARIANT; LAD1V;; INTEGRIN ACTIVATION DEFICIENCY DISEASE; IADD
Percent 612841 HYPOTRICHOSIS 5; HYPT5 MARIE UNNA HEREDITARY HYPOTRICHOSIS 2; MUHH2
Asterisk 612842 RASD FAMILY, MEMBER 2; RASD2 RAS HOMOLOG ENRICHED IN STRIATUM; RHES;; TUMOR ENDOTHELIAL MARKER 2; TEM2
Percent 612843 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT; KFSD
Asterisk 612844 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 3; SENP3 SUMO-SPECIFIC PROTEASE 3
Asterisk 612845 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 5; SENP5 SUMO-SPECIFIC PROTEASE 5
Asterisk 612846 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 7; SENP7 SUMO-SPECIFIC PROTEASE 7;; KIAA1707
Number Sign 612847 BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE;; SEMD, PAKISTANI TYPE;; SPONDYLODYSPLASIA AND PREMATURE PUBARCHE
Asterisk 612848 SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 1; SDHAF1
Asterisk 612849 UBIQUITIN-SPECIFIC PEPTIDASE 46; USP46
Asterisk 612850 TUBULIN, BETA-2B; TUBB2B TUBULIN, BETA, CLASS IIB
Percent 612851 NARCOLEPSY 5, SUSCEPTIBILITY TO; NRCLP5
Number Sign 612852 OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY; DIRA
Percent 612853 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 7; RLS7
Asterisk 612854 SEC16, S. CEREVISIAE, HOMOLOG OF, A; SEC16A SEC16L;; p250;; KIAA0310
Asterisk 612855 SEC16, S. CEREVISIAE, HOMOLOG OF, B; SEC16B LEUCINE ZIPPER TRANSCRIPTION REGULATOR 2; LZTR2;; REGUCALCIN GENE PROMOTER REGION-RELATED PROTEIN; RGPR;; SEC16S
Asterisk 612856 ASTROTACTIN 2; ASTN2 KIAA0634
Asterisk 612857 PLACENTA-SPECIFIC GENE 9; PLAC9
Percent 612858 OROFACIAL CLEFT 12; OFC12 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 12
Asterisk 612859 T-CELL IMMUNORECEPTOR WITH IMMUNOGLOBULIN AND ITIM DOMAINS; TIGIT
Asterisk 612860 QUIESCIN Q6 SULFHYDRYL OXIDASE 2; QSOX2 SULFHYDRYL OXIDASE, NEUROBLASTOMA-DERIVED; SOXN
Asterisk 612861 NOP16, S. CEREVISIAE, HOMOLOG OF; NOP16 HSPC111;; HBV PRE-S2 TRANSREGULATED PROTEIN 3
Percent 612862 PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO CTEPH, DVT-NEGATIVE, SUSCEPTIBILITY TO
Number Sign 612863 CHROMOSOME 6q24-q25 DELETION SYNDROME
Asterisk 612864 PHOSPHOLIPASE A2, GROUP IVD; PLA2G4D PHOSPHOLIPASE A2 DELTA, CYTOSOLIC;; CPLA2-DELTA
Asterisk 612865 PHOSPHATIDYLINOSITOL 4-PHOSPHATE-5-KINASE-LIKE 1; PIP5KL1 PHOSPHATIDYLINOSITOL PHOSPHATE KINASE HOMOLOG; PIPKH
Asterisk 612866 ALG14, S. CEREVISIAE, HOMOLOG OF; ALG14 ASPARAGINE-LINKED GLYCOSYLATION 14, S. CEREVISIAE, HOMOLOG OF
NULL 612867 CORNEAL DYSTROPHY, SUBEPITHELIAL MUCINOUS; SMCD SUBEPITHELIAL MUCINOUS CORNEAL DYSTROPHY
Number Sign 612868 CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS; PACD CHROMOSOME 12q21.33 DELETION SYNDROME;; POSTERIOR AMORPHOUS CORNEAL DYSTROPHY
Asterisk 612869 ATTRACTIN-LIKE 1; ATRNL1 KIAA0534;; ALP
Asterisk 612870 PLECKSTRIN HOMOLOGY DOMAIN-INTERACTING PROTEIN; PHIP DDB1- AND CUL4-ASSOCIATED FACTOR 14; DCAF14
Asterisk 612871 Na+/K+ TRANSPORTING ATPase-INTERACTING 1; NKAIN1
Asterisk 612872 Na+/K+ TRANSPORTING ATPase-INTERACTING 3; NKAIN3
Asterisk 612873 Na+/K+ TRANSPORTING ATPase-INTERACTING 4; NKAIN4
Number Sign 612874 ERYTHROCYTE AMP DEAMINASE DEFICIENCY
NULL 612875 GONADOTROPIN-RELEASING HORMONE RECEPTOR 2; GNRHR2
Percent 612876 SPINOCEREBELLAR ATAXIA 9; SCA9
Number Sign 612877 CARDIOMYOPATHY, DILATED, 1BB; CMD1BB
Asterisk 612878 EXOPHILIN 5; EXPH5 SYNAPTOTAGMIN-LIKE PROTEIN LACKING C2 DOMAINS B; SLAC2B;; KIAA0624
Asterisk 612879 MAM DOMAIN-CONTAINING PROTEIN 2; MAMDC2
Asterisk 612880 SYNAPTOTAGMIN-LIKE 2; SYTL2 SYNAPTOTAGMIN-LIKE PROTEIN 2; SLP2;; SLP2A;; EXOPHILIN 4; EXO4;; KIAA1597
Number Sign 612881 CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5q DELETION;; PERIVENTRICULAR NODULAR HETEROTOPIA 5; PVNH5
Percent 612882 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 2; MENAQ2
Percent 612883 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 3; MENAQ3
Percent 612884 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 2; MENOQ2
Number Sign 612885 PREMATURE OVARIAN FAILURE 10; POF10 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 3, INCLUDED; MENOQ3, INCLUDED
Percent 612886 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 4; MENOQ4
Asterisk 612887 SEPTIN 11; SEPT11
Asterisk 612888 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8B; LRRC8B T-CELL ACTIVATION LEUCINE REPEAT-RICH PROTEIN; TALRRP;; KIAA0231
Asterisk 612889 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8C; LRRC8C FACTOR FOR ADIPOCYTE DIFFERENTIATION 158; FAD158;; AD158
Asterisk 612890 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8D; LRRC8D LEUCINE-RICH REPEAT-CONTAINING PROTEIN 5; LRRC5
Asterisk 612891 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8E; LRRC8E
Percent 612892 STATURE QUANTITATIVE TRAIT LOCUS 18; STQTL18
Percent 612893 STATURE QUANTITATIVE TRAIT LOCUS 19; STQTL19
Percent 612894 STATURE QUANTITATIVE TRAIT LOCUS 20; STQTL20
Asterisk 612895 NUCLEOREDOXIN; NXN
Asterisk 612896 RAD52 MOTIF-CONTAINING PROTEIN 1; RDM1
Asterisk 612897 SEPTIN 1; SEPT1 DIFF6
Asterisk 612898 COENZYME Q4, S. CEREVISIAE, HOMOLOG OF; COQ4
Number Sign 612899 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8; EIG8
Number Sign 612900 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2
Asterisk 612901 TUBULIN, BETA-1; TUBB1 TUBULIN, BETA, CLASS VI
Asterisk 612902 LIPOCALIN 8; LCN8
Asterisk 612903 LIPOCALIN 9; LCN9
Asterisk 612904 LIPOCALIN 10; LCN10
Asterisk 612905 LIPOCALIN 12; LCN12
Asterisk 612906 RAS-ASSOCIATED PROTEIN RAB32; RAB32
Asterisk 612907 tRNA NUCLEOTIDYLTRANSFERASE, CCA-ADDING, 1; TRNT1 MITOCHONDRIAL CCA-ADDING tRNA NUCLEOTIDYLTRANSFERASE;; CCA-ADDING tRNA NUCLEOTIDYLTRANSFERASE, MITOCHONDRIAL
Number Sign 612908 KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2 KERATODERMA, PALMOPLANTAR, STRIATE FORM II; KPPS2;; STRIATE PALMOPLANTAR KERATODERMA II; SPPK2
Asterisk 612909 RAS-ASSOCIATED PROTEIN RAB6C; RAB6C WTH3
Asterisk 612910 PHD FINGER PROTEIN 23; PHF23 PHF23/NUP98 FUSION GENE, INCLUDED
Asterisk 612911 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 3; NDUFAF3 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 3
Asterisk 612912 TRANSMEMBRANE PROTEIN 97; TMEM97 MAC30
Percent 612913 OROFACIODIGITAL SYNDROME XI; OFD11 OFDS XI;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XI;; ORAL-FACIAL-DIGITAL SYNDROME WITH SKELETAL ANOMALIES;; GABRIELLI SYNDROME
Asterisk 612914 MEDIATOR COMPLEX SUBUNIT 29; MED29 INTERSEX, DROSOPHILA, HOMOLOG OF;; INTERSEX-LIKE; IXL
Asterisk 612915 MEDIATOR COMPLEX SUBUNIT 20; MED20 TRF-PROXIMAL, DROSOPHILA, HOMOLOG OF; TRFP
NULL 612916 ZECHI-CEIDE SYNDROME OCCIPITAL ATRETIC CEPHALOCELE, UNUSUAL FACIES, AND LARGE FEET
NULL 612917 GIACHETI SYNDROME MARFANOID HABITUS AND SPECIFIC LANGUAGE AND LEARNING DISABILITIES
Number Sign 612918 CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI CLOVE SYNDROME;; CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES;; CLOVES SYNDROME
Asterisk 612919 LanC-LIKE 2; LANCL2 TESTIS-SPECIFIC ADRIAMYCIN SENSITIVITY PROTEIN; TASP
Asterisk 612920 THROMBOSPONDIN-TYPE LAMININ G DOMAIN AND EAR REPEATS; TSPEAR CHROMOSOME 21 OPEN READING FRAME 29; C21ORF29
Number Sign 612921 THREE M SYNDROME 2; 3M2 3M SYNDROME 2
Number Sign 612922 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2 AHUS, SUSCEPTIBILITY TO, 2
Number Sign 612923 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3 AHUS, SUSCEPTIBILITY TO, 3
Number Sign 612924 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4 AHUS, SUSCEPTIBILITY TO, 4
Number Sign 612925 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5 AHUS, SUSCEPTIBILITY TO, 5
Number Sign 612926 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6; AHUS6 AHUS, SUSCEPTIBILITY TO, 6
Asterisk 612927 AVL9, S. CEREVISIAE, HOMOLOG OF; AVL9 KIAA0241
Asterisk 612928 ISOCHORISMATASE DOMAIN-CONTAINING 2; ISOC2
Percent 612929 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 MTBS3
Asterisk 612930 PHOSPHOTYROSINE INTERACTION DOMAIN-CONTAINING 1; PID1 NYGGF4
Asterisk 612931 PHOSPHOGLYCERATE MUTASE 2; PGAM2 PHOSPHOGLYCERATE MUTASE, MUSCLE; PGAMM
Number Sign 612932 GLYCOGEN STORAGE DISEASE XIII; GSD13 GSD XIII;; ENOLASE 3 DEFICIENCY;; ENOLASE-BETA DEFICIENCY
Number Sign 612933 GLYCOGEN STORAGE DISEASE XI; GSD11 GSD XI;; LACTATE DEHYDROGENASE A DEFICIENCY
Caret 612934 MOVED TO 614921
Asterisk 612935 MYOSIN PHOSPHATASE RHO-INTERACTING PROTEIN; MPRIP MRIP;; KIAA0864;; p116 RHO-INTERACTING PROTEIN; p116RIP;; RIP3
Number Sign 612936 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY; CPSQ3, FORMERLY
Number Sign 612937 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O CDG Io; CDGIo;; CDG1(DPM3)
Number Sign 612938 GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD
Asterisk 612939 HEAT-SHOCK 70-KD PROTEIN-BINDING PROTEIN 1; HSPBP1 HSPA-BINDING PROTEIN 1;; HSP70-BINDING PROTEIN 1
Number Sign 612940 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B CUTIS LAXA WITH PROGEROID FEATURES
Asterisk 612941 PRECURSOR mRNA-PROCESSING FACTOR 40, S. CEREVISIAE, HOMOLOG OF, A; PRPF40A PRPF40, S. CEREVISIAE, HOMOLOG OF, A;; HUNTINGTIN-INTERACTING PROTEIN A; HYPA;; FORMIN-BINDING PROTEIN 3; FNBP3;; FBP11, MOUSE, HOMOLOG OF; FBP11
Asterisk 612942 RAS-ASSOCIATED PROTEIN RAB25; RAB25 RAB11C
Number Sign 612943 RETINITIS PIGMENTOSA 42; RP42
Asterisk 612944 RIBONUCLEASE T2; RNASET2 RNASE6PL
Asterisk 612945 RAS-ASSOCIATED PROTEIN RAB4B; RAB4B
Percent 612946 HADZISELIMOVIC SYNDROME MICROCEPHALY-FACIOCARDIOSKELETAL SYNDROME
NULL 612947 MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUAL APPEARANCE
NULL 612948 STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, MENTAL RETARDATION, AND DYSMORPHIC FEATURES
Number Sign 612949 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39 HYPOMYELINATION, GLOBAL CEREBRAL;; ASPARTATE-GLUTAMATE CARRIER 1 DEFICIENCY;; AGC1 DEFICIENCY
Percent 612950 PSORIASIS 12, SUSCEPTIBILITY TO; PSORS12
Number Sign 612951 LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
Number Sign 612952 AICARDI-GOUTIERES SYNDROME 5; AGS5
Number Sign 612953 PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14 DYSTONIA-PARKINSONISM, ADULT-ONSET
Number Sign 612954 MYOPATHY, MYOFIBRILLAR, 6; MFM6
Number Sign 612955 LONG QT SYNDROME 12; LQT12
Number Sign 612956 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2
Percent 612957 VITAMIN B6 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B6QTL1
Asterisk 612958 TRANSLATIONAL ACTIVATOR OF MITOCHONDRIALLY ENCODED CYTOCHROME c OXIDASE SUBUNIT I; TACO1 TRANSLATIONAL ACTIVATOR OF COX I;; TRANSLATIONAL ACTIVATOR OF MTCO1;; COILED-COIL DOMAIN-CONTAINING PROTEIN 44; CCDC44
Asterisk 612959 EPITHELIAL SPLICING REGULATORY PROTEIN 1; ESRP1 RNA-BINDING MOTIF PROTEIN 35A; RBM35A
Asterisk 612960 EPITHELIAL SPLICING REGULATORY PROTEIN 2; ESRP2 RNA-BINDING MOTIF PROTEIN 35B; RBM35B
Number Sign 612961 MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3
Asterisk 612962 DYNACTIN 5; DCTN5 p25
Asterisk 612963 DYNACTIN 6; DCTN6 WS3;; p27
Number Sign 612964 PREMATURE OVARIAN FAILURE 7; POF7 ADRENAL INSUFFICIENCY, NR5A1-RELATED, INCLUDED
Number Sign 612965 46,XY SEX REVERSAL 3; SRXY3 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED;; 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH OR WITHOUT ADRENAL FAILURE;; SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE;; DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
Asterisk 612966 RAS-ASSOCIATED PROTEIN RAB22A; RAB22A
Percent 612967 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 15; BMIQ15
Number Sign 612968 CATARACT 34, MULTIPLE TYPES; CTRCT34 CATARACT 34, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 3; CATC3
Asterisk 612969 TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 7; TIGD7 SANCHO
NULL 612970 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 17, PSEUDOGENE; NBPF17P NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 23, PSEUDOGENE; NBPF23P; NBPF23
Asterisk 612971 PDZ DOMAIN-CONTAINING 7; PDZD7
Asterisk 612972 TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 1; TIGD1
Asterisk 612973 TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 2; TIGD2
Asterisk 612974 DEP DOMAIN-CONTAINING PROTEIN 6; DEPDC6 DEP DOMAIN-CONTAINING MTOR-INTERACTING PROTEIN; DEPTOR
Number Sign 612975 SHORT SLEEPER SHORT SLEEP PHENOTYPE
Percent 612976 AGE-RELATED HEARING IMPAIRMENT 2; ARHI2 PRESBYCUSIS 2
Asterisk 612977 DCN1 DOMAIN-CONTAINING PROTEIN 4; DCUN1D4 KIAA0276
Asterisk 612978 PRECEREBELLIN 3; CBLN3
Asterisk 612979 SYS1 GOLGI-LOCALIZED INTEGRAL MEMBRANE PROTEIN, S. CEREVISIAE, HOMOLOG OF; SYS1
Asterisk 612980 IMP3, S. CEREVISIAE, HOMOLOG OF; IMP3 MITOCHONDRIAL RIBOSOMAL SUBUNIT COMPONENT; MRPS4;; BRMS2
Asterisk 612981 IMP4, S. CEREVISIAE, HOMOLOG OF; IMP4 BXDC4
Asterisk 612982 MICRO RNA 210; MIR210 miRNA210;; MIRN210
Asterisk 612983 MICRO RNA 106B; MIR106B miRNA106B;; MIRN106B
Asterisk 612984 MICRO RNA 93; MIR93 miRNA93;; MIRN93
Asterisk 612985 IROQUOIS HOMEOBOX PROTEIN 3; IRX3 IRXB1
Asterisk 612986 EP300-INTERACTING INHIBITOR OF DIFFERENTIATION 3; EID3 E1A-LIKE INHIBITOR OF DIFFERENTIATION 3;; NON-SMC ELEMENT 4, S. CEREVISIAE, HOMOLOG OF, B; NSMCE4B;; NSE4B
Asterisk 612987 NON-SMC ELEMENT 4, S. CEREVISIAE, HOMOLOG OF, A; NSMCE4A NONSTRUCTURAL MAINTENANCE OF CHROMOSOMES ELEMENT 4 HOMOLOG A;; NSE4 HOMOLOG A, SMC5-SMC6 COMPLEX COMPONENT; NSE4A;; C10ORF86
Asterisk 612988 TRANSMEMBRANE PROTEIN 126A; TMEM126A
Number Sign 612989 OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7
Asterisk 612990 ADDITIONAL SEX COMBS-LIKE 1; ASXL1 KIAA0978
Asterisk 612991 ADDITIONAL SEX COMBS-LIKE 2; ASXL2 KIAA1685
Asterisk 612992 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 3; NBPF3
Asterisk 612993 FILAMIN A-INTERACTING PROTEIN 1-LIKE; FILIP1L
Asterisk 612994 RAS-ASSOCIATED PROTEIN 28; RAB28
Asterisk 612995 TRANSFER RNA VALINE (CAC) 1-2; TRV-CAC1-2 TRANSFER RNA VALINE 2; TRNAV2;; tRNA VALINE 2; TRV2
Asterisk 612996 TRANSFER RNA LYSINE (CTT) 2-4; TRK-CTT2-4 TRANSFER RNA LYSINE 2; TRNAK2;; tRNA LYSINE 2; TRK2
Number Sign 612997 SPERMATOGENIC FAILURE 7; SPGF7 MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE; MIAR
Number Sign 612998 EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4 EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
Number Sign 612999 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5
Number Sign 613000 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1; FNEPPK1 PPKFNE;; FOCAL NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA;; KERATODERMA, FOCAL NONEPIDERMOLYTIC PALMOPLANTAR
Number Sign 613001 ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL
Number Sign 613002 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2
Number Sign 613003 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 ADHD7
Asterisk 613004 HUNTINGTIN; HTT IT15;; HD GENE
NULL 613005 SANTOS SYNDROME FIBULAR AGENESIS/HYPOPLASIA, OLIGODACTYLOUS CLUBFEET, AND ANONYCHIA/NAIL HYPOPLASIA SYNDROME
Percent 613006 DIABETES MELLITUS, INSULIN-DEPENDENT, 24; IDDM24
Percent 613007 BILIARY CIRRHOSIS, PRIMARY, 2; PBC2
Percent 613008 BILIARY CIRRHOSIS, PRIMARY, 3; PBC3
Asterisk 613009 O-PHOSPHOSERINE tRNA-SELENOCYSTEINE tRNA SYNTHASE; SEPSECS SOLUBLE LIVER ANTIGEN; SLA;; LIVER PANCREAS ANTIGEN; LP
Asterisk 613010 RIBOFLAVIN KINASE; RFK FLAVOKINASE
Number Sign 613011 LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1
Asterisk 613012 UROCANASE DOMAIN-CONTAINING PROTEIN 1; UROC1 UROCANASE
Number Sign 613013 NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2 NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE, INCLUDED
Number Sign 613014 NEUROBLASTOMA, SUSCEPTIBILITY TO, 3; NBLST3
Percent 613015 NEUROBLASTOMA, SUSCEPTIBILITY TO, 4; NBLST4
Percent 613016 NEUROBLASTOMA, SUSCEPTIBILITY TO, 5; NBLST5
Percent 613017 NEUROBLASTOMA, SUSCEPTIBILITY TO, 6; NBLST6
Asterisk 613018 TYROSINE AMINOTRANSFERASE; TAT TAT, SOLUBLE
Asterisk 613019 SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 2; SDHAF2 SUCCINATE DEHYDROGENASE 5; SDH5
Caret 613020 MOVED TO 116600
Number Sign 613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2 CYSTIC FIBROSIS-LIKE SYNDROME
Asterisk 613022 OXOGLUTARATE DEHYDROGENASE; OGDH ALPHA-KETOGLUTARATE DEHYDROGENASE; AKGDH;; E1K
Asterisk 613023 CENTROSOMAL PROTEIN, 170-KD; CEP170 KIAA0470
Percent 613024 FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1; FL1
Percent 613025 SCHIZOPHRENIA 13; SCZD13 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q13-q14-RELATED
Number Sign 613026 CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL
Number Sign 613027 GLYCOGEN STORAGE DISEASE IXc; GSD9C GSD IXc
Number Sign 613028 GLIOMA SUSCEPTIBILITY 2; GLM2
Number Sign 613029 GLIOMA SUSCEPTIBILITY 3; GLM3
Percent 613030 GLIOMA SUSCEPTIBILITY 5; GLM5
Percent 613031 GLIOMA SUSCEPTIBILITY 6; GLM6
Percent 613032 GLIOMA SUSCEPTIBILITY 7; GLM7
Percent 613033 GLIOMA SUSCEPTIBILITY 8; GLM8
Caret 613034 MOVED TO 612541
Percent 613035 HEARING LOSS, NOISE-INDUCED, SUSCEPTIBILITY TO; NIHL
Asterisk 613036 PEPTIDASE, MITOCHONDRIAL PROCESSING, ALPHA; PMPCA MITOCHONDRIAL PROCESSING PEPTIDASE-ALPHA;; KIAA0123
Asterisk 613037 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 72-KD; INPP5E
Number Sign 613038 PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1
Asterisk 613039 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 1-LIKE; CHD1L AMPLIFIED IN LIVER CANCER 1; ALC1
Asterisk 613040 COILED-COIL DOMAIN-CONTAINING PROTEIN 26; CCDC26 RETINOIC ACID MODULATOR; RAM
Asterisk 613041 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A1; FAM90A1
Asterisk 613042 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A3; FAM90A3 FAM90A COPY 2
Asterisk 613043 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A5; FAM90A5 FAM90A COPY 5
Asterisk 613044 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A7; FAM90A7 FAM90A COPY 8
Asterisk 613045 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A8; FAM90A8 FAM90A COPY 15
Asterisk 613046 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A9; FAM90A9 FAM90A COPY 18
Asterisk 613047 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A10; FAM90A10 FAM90A COPY 19
Asterisk 613048 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A12; FAM90A12 FAM90A COPY 22
Asterisk 613049 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A13; FAM90A13 FAM90A COPY 4
Asterisk 613050 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A14; FAM90A14 FAM90A COPY 12
Asterisk 613051 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A15; FAM90A15 FAM90A COPY 1
Asterisk 613052 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A18; FAM90A18 FAM90A COPY 13
Asterisk 613053 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A19; FAM90A19 FAM90A COPY 17
Asterisk 613054 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A20; FAM90A20 FAM90A COPY 6
Percent 613055 ATRIAL FIBRILLATION, FAMILIAL, 8; ATFB8
Asterisk 613056 LUC7, S. CEREVISIAE, HOMOLOG OF, 2; LUC7L2 LUC7-LIKE 2
Asterisk 613057 MICRO RNA 26A2; MIR26A2 miRNA26A2;; MIRN26A2
Percent 613058 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 2; BCC2
Percent 613059 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 3; BCC3
Number Sign 613060 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO, INCLUDED; GEFS5, INCLUDED;; GEFS+, TYPE 5, SUSCEPTIBILITY TO, INCLUDED;; GEFS+5, SUSCEPTIBILITY TO, INCLUDED;; GEFSP5, SUSCEPTIBILITY TO, INCLUDED;; EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7, INCLUDED; EJM7, INCLUDED
Percent 613061 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 4; BCC4
Percent 613062 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 5; BCC5
Percent 613063 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 6; BCC6
Percent 613064 DERMATITIS, ATOPIC, 7; ATOD7
Percent 613065 LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 1, INCLUDED;; ALL1, INCLUDED;; LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 1, INCLUDED;; LEUKEMIA, B-CELL ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, INCLUDED;; LEUKEMIA, T-CELL ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, INCLUDED;; LEUKEMIA, ACUTE LYMPHOBLASTIC, B-HYPERDIPLOID, SUSCEPTIBILITY TO, INCLUDED
Asterisk 613066 PBX/KNOTTED 1 HOMEOBOX 2; PKNOX2 PBX-REGULATING PROTEIN 2; PREP2
Percent 613067 LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2; ALL2 LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 2
Number Sign 613068 NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
Asterisk 613069 PHD FINGER PROTEIN 10; PHF10 BRG1-ASSOCIATED FACTOR, 45-KD, A; BAF45A
Number Sign 613070 LIVER FAILURE, INFANTILE, TRANSIENT; LFIT
Number Sign 613071 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3 CYSTIC FIBROSIS-LIKE SYNDROME
Asterisk 613072 LIPOXYGENASE HOMOLOGY DOMAIN-CONTAINING 1; LOXHD1
Number Sign 613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2
Number Sign 613074 DEAFNESS, AUTOSOMAL DOMINANT 50; DFNA50
Number Sign 613075 MACS SYNDROME MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS;; TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
Number Sign 613076 MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY MYOPATHY WITH CATARACT AND COMBINED RESPIRATORY CHAIN DEFICIENCY;; MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED
Number Sign 613077 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
Number Sign 613078 NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD NBS-LIKE DISORDER;; RAD50 DEFICIENCY;; MICROCEPHALY AND SPONTANEOUS CHROMOSOME INSTABILITY WITHOUT IMMUNODEFICIENCY
Number Sign 613079 DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77
Number Sign 613080 46,XY SEX REVERSAL 5; SRXY5 46,XY SEX REVERSAL, CBX2-RELATED;; 46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED;; SEX REVERSAL, XY, CBX2-RELATED;; DISORDER OF SEX DEVELOPMENT, 46,XY, CBX2-RELATED
Asterisk 613081 LYSINE-SPECIFIC DEMETHYLASE 1B; KDM1B LYSINE-SPECIFIC DEMETHYLASE 2; LSD2;; AMINE OXIDASE, FLAVIN-CONTAINING, 1; AOF1
Asterisk 613082 ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 2; ATP2C2 SECRETORY PATHWAY Ca(2+) ATPase 2; SPCA2;; KIAA0703
Asterisk 613083 LISTERIN E3 UBIQUITIN PROTEIN LIGASE 1; LTN1 LISTERIN, MOUSE, HOMOLOG OF;; RING FINGER PROTEIN 160; RNF160;; KIAA0714
Asterisk 613084 MYELIN TRANSCRIPTION FACTOR 1-LIKE; MYT1L KIAA1106
Percent 613085 GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C
Number Sign 613086 GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D
Number Sign 613087 ATRIAL SEPTAL DEFECT 6; ASD6
Percent 613088 PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 2 PVOP2
NULL 613089 CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH CLAPO;; LOPEZ-GUTIERREZ SYNDROME
Number Sign 613090 BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B
Number Sign 613091 SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 ASPHYXIATING THORACIC DYSTROPHY 3; ATD3;; SHORT RIB-POLYDACTYLY SYNDROME, TYPE I; SRPS1;; SALDINO-NOONAN SYNDROME;; POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I;; SHORT RIB-POLYDACTYLY SYNDROME, TYPE III; SRPS3;; VERMA-NAUMOFF SYNDROME;; POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE III;; SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB; SRPS2B
Number Sign 613092 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2; HNFJ2 EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE
Number Sign 613093 CONE DYSTROPHY 4; COD4 ACHROMATOPSIA 5, INCLUDED; ACHM5, INCLUDED
Number Sign 613094 MICROPHTHALMIA, ISOLATED 4; MCOP4
Number Sign 613095 POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2 POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE II; APKD2
Percent 613096 SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36
Caret 613097 MOVED TO 601216
Number Sign 613098 INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC
Number Sign 613099 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5
Number Sign 613100 GLAUCOMA 1, OPEN ANGLE, O; GLC1O
Number Sign 613101 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5
Number Sign 613102 HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
Asterisk 613103 SERINE/ARGININE REPETITIVE MATRIX PROTEIN 4; SRRM4 NEURAL-SPECIFIC SR-RELATED PROTEIN, 100-KD; NSR100;; KIAA1853
Asterisk 613104 CHROMOSOME 9 OPEN READING FRAME 7; C9ORF7 FLOWER, DROSOPHILA, HOMOLOG OF; FLOWER
Number Sign 613105 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2 MACULAR DYSTROPHY, PROGRESSIVE
Percent 613106 VERTIGO, BENIGN RECURRENT, 2; BRV2
Number Sign 613107 NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2
Number Sign 613108 CANDIDIASIS, FAMILIAL, 4; CANDF4 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS
Asterisk 613109 GM2 ACTIVATOR; GM2A
Asterisk 613110 BLADDER CANCER-ASSOCIATED PROTEIN; BLCAP BLADDER CANCER-ASSOCIATED, 10-KD; BC10
Asterisk 613111 CATHEPSIN A; CTSA CATHA;; BETA-GALACTOSIDASE PROTECTIVE PROTEIN; PPGB;; PROTECTIVE PROTEIN/CATHEPSIN A; PPCA;; CARBOXYPEPTIDASE L;; BETA-GALACTOSIDASE 2; GLB2
Number Sign 613112 MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
Asterisk 613113 NEUROFIBROMIN 1; NF1 NEUROFIBROMIN
Asterisk 613114 FAMILY WITH SEQUENCE SIMILARITY 134, MEMBER B; FAM134B JK1
Number Sign 613115 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B
Number Sign 613116 THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; THPH11 THROMBOPHILIA DUE TO ELEVATED HISTIDINE-RICH GLYCOPROTEIN, INCLUDED
Asterisk 613117 SMALL NUCLEOLAR RNA, C/D BOX, 50A; SNORD50A RNA, U50 SMALL NUCLEOLAR; RNU50;; snoRNA, U50
Number Sign 613118 ANTITHROMBIN III DEFICIENCY; AT3D THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY; THPH7
Number Sign 613119 BRUGADA SYNDROME 6; BRGDA6
Number Sign 613120 BRUGADA SYNDROME 7; BRGDA7 ATRIAL FIBRILLATION, FAMILIAL, 16, INCLUDED; ATFB16, INCLUDED
Asterisk 613121 NEXILIN F-ACTIN-BINDING PROTEIN; NEXN NEXILIN, RAT, HOMOLOG OF;; NEXILIN-LIKE PROTEIN; NELIN
Number Sign 613122 CARDIOMYOPATHY, DILATED, 1CC; CMD1CC
Number Sign 613123 BRUGADA SYNDROME 8; BRGDA8
NULL 613124 HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHIC FEATURES
Asterisk 613125 NUCLEAR RECEPTOR-INTERACTING PROTEIN 3; NRIP3
Asterisk 613126 PROLINE/SERINE-RICH COILED-COIL PROTEIN 1; PSRC1 DDA3, MOUSE, HOMOLOG OF; DDA3
Asterisk 613127 CHORDIN-LIKE 2; CHRDL2 CHL2;; BREAST TUMOR NOVEL FACTOR 1; BNF1
Asterisk 613128 STN1, CST COMPLEX SUBUNIT; STN1 STN1, S. POMBE, HOMOLOG OF; STN1 ALPHA ACCESSORY FACTOR, 44-KD SUBUNIT; AAF44;; OLIGONUCLEOTIDE/OLIGOSACCHARIDE-BINDING FOLD-CONTAINING PROTEIN 1; OBFC1
Asterisk 613129 CONSERVED TELOMERE MAINTENANCE COMPONENT 1; CTC1 ALPHA ACCESSORY FACTOR, 132-KD SUBUNIT; AAF132;; CHROMOSOME 17 OPEN READING FRAME 68; C17ORF68
Asterisk 613130 TEN1, CST COMPLEX SUBUNIT; TEN1 TEN1, S. POMBE, HOMOLOG OF;; CHROMOSOME 17 OPEN READING FRAME 106; C17ORF106
Asterisk 613131 MICRO RNA 449A; MIR449A miRNA449A;; MIRN449A
Asterisk 613132 MICRO RNA 449B; MIR449B miRNA449B;; MIRN449B
Asterisk 613133 TETRASPANIN 2; TSPAN2 NEW EST TETRASPAN 3; NET3
Asterisk 613134 TETRASPANIN 3; TSPAN3
Number Sign 613135 PARKINSONISM-DYSTONIA, INFANTILE; PKDYS DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; DTDS
Asterisk 613136 TETRASPANIN 5; TSPAN5 NEW EST TETRASPAN 4; NET4
Asterisk 613137 TETRASPANIN 9; TSPAN9 NEW EST TETRASPAN 5; NET5
Asterisk 613138 TETRASPANIN 12; TSPAN12 NEW EST TETRASPAN 2; NET2
Asterisk 613139 TETRASPANIN 13; TSPAN13 NEW EST TETRASPAN 6; NET6
Asterisk 613140 TETRASPANIN 15; TSPAN15 NEW EST TETRASPAN 7; NET7
Asterisk 613141 DELTEX, DROSOPHILA, HOMOLOG OF, 2; DTX2 KIAA1528
Asterisk 613142 DELTEX, DROSOPHILA, HOMOLOG OF, 3; DTX3
Asterisk 613143 DTX3-LIKE; DTX3L B LYMPHOMA- AND BAL-ASSOCIATED PROTEIN; BBAP
Percent 613144 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 3; CACD3 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, WITH OR WITHOUT DRUSEN
Percent 613145 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 14; SLEB14
Asterisk 613146 MICRO RNA 184; MIR184 miRNA184;; MIRN184 MICRO RNA 184*, INCLUDED; MIR184*, INCLUDED
Asterisk 613147 MICRO RNA 205; MIR205 miRNA205;; MIRN205
Number Sign 613148 INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 INFLAMMATORY BOWEL DISEASE, EARLY-ONSET, AUTOSOMAL RECESSIVE
Asterisk 613149 CDKN2B ANTISENSE RNA; CDKN2BAS ANTISENSE NONCODING RNA IN THE INK4 LOCUS; ANRIL
Number Sign 613150 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
Number Sign 613151 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3; MDDGB3 MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED
Number Sign 613152 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4 MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED
Number Sign 613153 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
Number Sign 613154 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
Number Sign 613155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED
Number Sign 613156 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED
Number Sign 613157 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2O; LGMD2O;; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
Number Sign 613158 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2N; LGMD2N;; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED
Number Sign 613159 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1
Asterisk 613160 VON WILLEBRAND FACTOR; VWF FACTOR VIII-VON WILLEBRAND FACTOR; F8VWF
Number Sign 613161 BETA-UREIDOPROPIONASE DEFICIENCY; UPB1D
Number Sign 613162 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45
Number Sign 613163 GABA-TRANSAMINASE DEFICIENCY
Percent 613164 PARKINSON DISEASE 16; PARK16
Asterisk 613165 CALCIUM-ACTIVATED NUCLEOTIDASE 1; CANT1 SOLUBLE CALCIUM-ACTIVATED NUCLEOTIDASE 1; SCAN1
Asterisk 613166 DOUBLECORTIN-LIKE KINASE 2; DCLK2 DCK2;; CAMK-LIKE CREB REGULATORY KINASE 2; CLICK2; CL2
Asterisk 613167 DOUBLECORTIN-LIKE KINASE 3; DCLK3 DCK3;; CLICK-RELATED PROTEIN; CLR
Asterisk 613168 SERPIN PEPTIDASE INHIBITOR, CLADE F, MEMBER 2; SERPINF2 ALPHA-2-PLASMIN INHIBITOR; PLI;; ALPHA-2-ANTIPLASMIN; AAP
Asterisk 613169 KELCH DOMAIN-CONTAINING PROTEIN 8B; KLHDC8B
Asterisk 613170 TETRASPANIN 1; TSPAN1 NEW EST TETRASPAN 1; NET1
Asterisk 613171 RNA-BINDING MOTIF PROTEIN 20; RBM20
Number Sign 613172 CARDIOMYOPATHY, DILATED, 1DD; CMD1DD
Asterisk 613173 NEURONAL GROWTH REGULATOR 1; NEGR1 KINDRED OF IgLON: KILON
Number Sign 613174 CHROMOSOME 5p13 DUPLICATION SYNDROME
Asterisk 613175 SMG8 NONSENSE MEDIATED mRNA DECAY FACTOR; SMG8 CHROMOSOME 17 OPEN READING FRAME 71; C17ORF71
Asterisk 613176 SMG9 NONSENSE-MEDIATED mRNA DECAY FACTOR; SMG9 CHROMOSOME 19 OPEN READING FRAME 61; C19ORF61
Number Sign 613177 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC; ARCL1C CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES;; URBAN-RIFKIN-DAVIS SYNDROME; URDS
Asterisk 613178 KIAA0427 GENE; KIAA0427 CBP80/CBP20-DEPENDENT TRANSLATION INITIATION FACTOR; CTIF
Number Sign 613179 PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
Number Sign 613180 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 8; CDCBM8 POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA
Asterisk 613181 BolA, E. COLI, HOMOLOG OF, 1; BOLA1
Asterisk 613182 BolA, E. COLI, HOMOLOG OF, 2; BOLA2
Asterisk 613183 BolA, E. COLI, HOMOLOG OF, 3; BOLA3
Asterisk 613184 TRIPARTITE MOTIF-CONTAINING PROTEIN 68; TRIM68 SS56;; GC109
Asterisk 613185 MICRO RNA 95; MIR95 miRNA95;; MIRN95
Asterisk 613186 MICRO RNA 100; MIR100 miRNA100;; MIRN100
Asterisk 613187 MICRO RNA 103-1; MIR103-1 miRNA103-1;; MIRN103-1
Asterisk 613188 MICRO RNA 103-2; MIR103-2 miRNA103-2;; MIRN103-2
Asterisk 613189 MICRO RNA 107; MIR107 miRNA107;; MIRN107
Asterisk 613190 DYNEIN, AXONEMAL, ASSEMBLY FACTOR 1; DNAAF1 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 50; LRRC50;; ODA7, CHLAMYDOMONAS, HOMOLOG OF; ODA7
Asterisk 613191 DUAL-SPECIFICITY PHOSPHATASE 13; DUSP13 TESTIS- AND SKELETAL MUSCLE-SPECIFIC DUAL-SPECIFICITY PHOSPHATASE, INCLUDED; TMDP, INCLUDED;; MUSCLE-RESTRICTED DUAL-SPECIFICITY PHOSPHATASE, INCLUDED; MDSP, INCLUDED
Number Sign 613192 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13
Number Sign 613193 CILIARY DYSKINESIA, PRIMARY, 13; CILD13 CILIARY DYSKINESIA, PRIMARY, 13, WITH OR WITHOUT SITUS INVERSUS
Number Sign 613194 RETINITIS PIGMENTOSA 50; RP50 RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED
Number Sign 613195 WEILL-MARCHESANI SYNDROME 4; WMS4 WEILL-MARCHESANI-LIKE SYNDROME; WMSL
Asterisk 613196 EWING TUMOR-ASSOCIATED ANTIGEN 1; ETAA1 ETAA16
Asterisk 613197 TRAF-TYPE ZINC FINGER DOMAIN-CONTAINING 1; TRAFD1 FLN29
Asterisk 613198 SUPPRESSOR OF VARIEGATION 4-20, DROSOPHILA, HOMOLOG OF, 2; SUV420H2
Asterisk 613199 TAO KINASE 2; TAOK2 TAO2;; KIAA0881;; PROSTATE-DERIVED STE20-LIKE KINASE; PSK;; PSK1;; PSK1-ALPHA;; PSK1-BETA
Asterisk 613200 PDS5, REGULATOR OF COHESION MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, A; PDS5A KIAA0648;; SCC112
Asterisk 613201 CHROMOSOME TRANSMISSION FIDELITY FACTOR 18, S. CEREVISIAE, HOMOLOG OF; CHTF18 CHL12, YEAST, HOMOLOG OF; CHL12;; CTF18
Asterisk 613202 CHROMOSOME TRANSMISSION FIDELITY FACTOR 8, S. CEREVISIAE, HOMOLOG OF; CHTF8 CTF8
Asterisk 613203 DEFECTIVE IN SISTER CHROMATID COHESION 1, S. CEREVISIAE, HOMOLOG OF; DSCC1 DCC1
Number Sign 613204 MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY
Number Sign 613205 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED MDCL
Number Sign 613206 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44
Percent 613207 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8; ASRT8 RHINOCONJUNCTIVITIS, SUSCEPTIBILITY TO, INCLUDED
Asterisk 613208 XPC GENE; XPC XPCC GENE;; RAD4, YEAST, HOMOLOG OF; RAD4
Asterisk 613209 TRANSMEMBRANE PROTEIN 181; TMEM181 G PROTEIN-COUPLED RECEPTOR 178; GPR178;; KIAA1423
Asterisk 613210 WD REPEAT-CONTAINING PROTEIN 85; WDR85
Number Sign 613211 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3; AI2A3
Asterisk 613212 ALANYL-tRNA SYNTHETASE DOMAIN-CONTAINING 1; AARSD1
Asterisk 613213 CYTOCHROME b5 REDUCTASE 3; CYB5R3 B5R;; NADH-DIAPHORASE 1; DIA1
Asterisk 613214 WD REPEAT-CONTAINING PROTEIN 72; WDR72
Number Sign 613215 CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME
Number Sign 613216 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C CSNB, COMPLETE, AUTOSOMAL RECESSIVE
Number Sign 613217 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5 ENTEROPATHY, CONGENITAL TUFTING; CTE;; INTESTINAL EPITHELIAL CELL DYSPLASIA
Asterisk 613218 CYTOCHROME b5, TYPE A (MICROSOMAL); CYB5A CYTOCHROME b5; CYB5;; MICROSOMAL CYTOCHROME b5; MCB5
Percent 613219 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 2; FGQTL2 BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 1, INCLUDED; BWQTL1, INCLUDED
Asterisk 613220 TRANSMEMBRANE PROTEIN 18; TMEM18
Asterisk 613221 MITOCHONDRIAL CARRIER HOMOLOG 2; MTCH2 MET-INDUCED MITOCHONDRIAL PROTEIN; MIMP
Asterisk 613222 GLUCOSAMINE-6-PHOSPHATE DEAMINASE 2; GNPDA2 GNP2
Number Sign 613223 LEPROSY, SUSCEPTIBILITY TO, 5; LPRS5 LEPROSY, PROTECTION AGAINST, INCLUDED
Number Sign 613224 NOONAN SYNDROME 6; NS6
Number Sign 613225 FACTOR XIII, A SUBUNIT, DEFICIENCY OF
Asterisk 613226 ZINC FINGER PROTEIN 296; ZNF296 ZFP296;; ZNF342
Number Sign 613227 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3
Asterisk 613228 ASPARTYLGLUCOSAMINIDASE; AGA GLYCOSYLASPARAGINASE
Number Sign 613229 TRICHOTILLOMANIA; TTM
Asterisk 613230 PEPTIDASE D; PEPD PROLIDASE;; IMIDODIPEPTIDASE
Asterisk 613231 KINESIN FAMILY MEMBER 26A; KIF26A KIAA1236
Asterisk 613232 RNA-BINDING MOTIF PROTEIN 42; RBM42
Percent 613233 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 3; FGQTL3
Asterisk 613234 NEUTRAL CHOLESTEROL ESTER HYDROLASE 1; NCEH1 NCEH;; KIAA1363
Number Sign 613235 FACTOR XIII, B SUBUNIT, DEFICIENCY OF
Asterisk 613236 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 18; KCNJ18 KIR2.6
Number Sign 613237 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 5
Percent 613238 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 3; SPDA3
Number Sign 613239 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2; TTPP2
Asterisk 613240 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 1C; PPP1R1C PROTEIN PHOSPHATASE 1 INHIBITOR 5; IPP5
NULL 613241 PSEUDOPILI ANNULATI
Asterisk 613242 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14C; PPP1R14C KINASE-ENHANCED PROTEIN PHOSPHATASE 1 INHIBITOR; KEPI
Number Sign 613243 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13; CMH13
Number Sign 613244 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8; HNPCC8
Asterisk 613245 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12C; PPP1R12C MYOSIN-BINDING SUBUNIT, 85-KD; MBS85
Asterisk 613246 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 1A; PPP1R1A PROTEIN PHOSPHATASE 1 INHIBITOR 1; IPP1;; INHIBITOR 1; I1
Asterisk 613247 PERILIPIN 4; PLIN4 S3-12;; KIAA1881
Asterisk 613248 PERILIPIN 5; PLIN5 LIPID STORAGE DROPLET PROTEIN 5; LSDP5
Asterisk 613249 ENDOGENOUS BORNA-LIKE N ELEMENT-CONTAINING PROTEIN 1; EBLN1
Asterisk 613250 ENDOGENOUS BORNA-LIKE N ELEMENT-CONTAINING PROTEIN 2; EBLN2
Number Sign 613251 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14; CMH14
Number Sign 613252 CARDIOMYOPATHY, DILATED, 1EE; CMD1EE
Caret 613253 MOVED TO 603046
Number Sign 613254 TUBEROUS SCLEROSIS 2; TSC2 TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED
Number Sign 613255 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15; CMH15
Asterisk 613256 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14D; PPP1R14D GUT AND BRAIN PHOSPHATASE INHIBITOR 1; GBPI1
Asterisk 613257 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 15B; PPP1R15B CREP
Asterisk 613258 CHROMOSOME 18 OPEN READING FRAME 54; C18ORF54 LAS2, MOUSE, HOMOLOG OF; LAS2
Asterisk 613259 REPETIN; RPTN
Asterisk 613260 KERATINOCYTE PROLINE-RICH PROTEIN; KPRP
Asterisk 613261 PROTOGENIN, CHICKEN, HOMOLOG OF; PRTG
Asterisk 613262 RIBOSOMAL PROTEIN L24 DOMAIN-CONTAINING PROTEIN 1; RSL24D1 RPL24 DOMAIN-CONTAINING PROTEIN 1;; RLP24, YEAST, HOMOLOG OF; RLP24
Asterisk 613263 SMALL NUCLEOLAR RNA HOST GENE 5; SNHG5 U50 HOST GENE; U50HG
Asterisk 613264 SMALL NUCLEOLAR RNA, C/D BOX; SNORD50B snoRNA, U50-PRIME
Number Sign 613265 WAARDENBURG SYNDROME, TYPE 4B; WS4B WAARDENBURG SYNDROME, TYPE 4B, WITH HIRSCHSPRUNG DISEASE;; WAARDENBURG SYNDROME, TYPE IVB
Number Sign 613266 WAARDENBURG SYNDROME, TYPE 4C; WS4C WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C;; WAARDENBURG SYNDROME, TYPE IVC
Number Sign 613267 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3 FCD2 LOCUS;; CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET
Number Sign 613268 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET
Percent 613269 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 5; FECD5 FCD3 LOCUS;; CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET
Number Sign 613270 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET
Percent 613271 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 7; FECD7 FCD4 LOCUS;; CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET
Asterisk 613272 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 3; KCTD3 NY-REN-45
Asterisk 613273 INST3- AND NABP-INTERACTING PROTEIN; INIP CHROMOSOME 9 OPEN READING FRAME 80; C9ORF80;; SENSOR OF SINGLE-STRANDED DNA COMPLEX, SUBUNIT C; SOSSC;; SOSS COMPLEX, SUBUNIT C
Asterisk 613274 MOLYBDENUM COFACTOR SULFURASE; MOCOS MCS;; HMCS
Asterisk 613275 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 16B; PPP1R16B TRANSFORMING GROWTH FACTOR-BETA-INHIBITED MEMBRANE-ASSOCIATED PROTEIN; TIMAP;; TGFB-INHIBITED MEMBRANE-ASSOCIATED PROTEIN;; KIAA0823
Asterisk 613276 U6 SMALL NUCLEAR RNA BIOGENESIS PHOSPHODIESTERASE 1; USB1 U6 snRNA BIOGENESIS PHOSPHODIESTERASE 1;; CHROMOSOME 16 OPEN READING FRAME 57; C16ORF57
Asterisk 613277 TRANSMEMBRANE PROTEIN 216; TMEM216
Asterisk 613278 SLX4, S. CEREVISIAE, HOMOLOG OF; SLX4 STRUCTURE-SPECIFIC ENDONUCLEASE SUBUNIT SLX4;; BTB/POZ DOMAIN-CONTAINING PROTEIN 12; BTBD12;; MUS312, DROSOPHILA, HOMOLOG OF; MUS312;; KIAA1784;; KIAA1987
Asterisk 613279 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 14: ZC3H14 SUPPRESSOR OF TAU 2, C. ELEGANS, HOMOLOG OF; SUT2;; NY-REN-37
Number Sign 613280 HYPERMANGANESEMIA WITH DYSTONIA 1; HMNDYT1 HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS; HMDPC
Asterisk 613281 SORTING NEXIN 20; SNX20 SELECTIN LIGAND INTERACTOR CYTOPLASMIC 1; SLIC1
Percent 613282 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1; NAFLD1 LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1, INCLUDED
Asterisk 613283 GLUTAREDOXIN, CYSTEINE-RICH, 1; GRXCR1
Percent 613284 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HCHGQ3 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 22
Number Sign 613285 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25
Number Sign 613286 CARDIOMYOPATHY, DILATED, 1FF; CMD1FF
Number Sign 613287 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2N
Asterisk 613288 TRIPARTITE MOTIF-CONTAINING PROTEIN 72; TRIM72 MITSUGUMIN, 53-KD; MG53
Asterisk 613289 ATAXIN 8; ATXN8
Percent 613290 HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO; CIHL
Number Sign 613291 BILE ACID MALABSORPTION, PRIMARY; PBAM
Asterisk 613292 DENN/MADD DOMAIN-CONTAINING PROTEIN 1B; DENND1B CONNECDENN 2;; FAM31B;; C1ORF18
Asterisk 613293 SH3 AND PX DOMAINS-CONTAINING PROTEIN 2B; SH3PXD2B TYROSINE KINASE SUBSTRATE WITH 4 SH3 DOMAINS; TKS4;; KIAA1295
Asterisk 613294 SUMO1-ACTIVATING ENZYME, SUBUNIT 1; SAE1 SUA1;; ACTIVATOR OF SUMO1, S. CEREVISIAE, HOMOLOG OF; AOS1
Asterisk 613295 UBIQUITIN-LIKE MODIFIER-ACTIVATING ENZYME 2; UBA2 UBA2, S. CEREVISIAE, HOMOLOG OF;; SUMO1-ACTIVATING ENZYME, SUBUNIT 2; SAE2
Asterisk 613296 LYSOSOME-ASSOCIATED PROTEIN, TRANSMEMBRANE 4, BETA; LAPTM4B LYSOSOME-ASSOCIATED TRANSMEMBRANE PROTEIN 4, BETA
Asterisk 613297 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 6; MARCH6 MARCH VI;; TEB4;; DOA10, S. CEREVISIAE, HOMOLOG OF; DOA10;; KIAA0597
Asterisk 613298 CHROMOSOME 15 OPEN READING FRAME 42; C15ORF42 TRESLIN;; SLD3, YEAST, HOMOLOG OF;; TOPBP1-INTERACTING CHECKPOINT AND REPLICATION REGULATOR; TICRR
Asterisk 613299 FAMILY WITH SEQUENCE SIMILARITY 13, MEMBER A; FAM13A FAM13A1;; KIAA0914
Asterisk 613300 FAM13A OPPOSITE STRAND; FAM13AOS FAM13A1OS
Asterisk 613301 FEZ FAMILY ZINC FINGER PROTEIN 1; FEZF1 FOREBRAIN EMBRYONIC ZINC FINGER; FEZ;; ZINC FINGER PROTEIN 312B; ZNF312B
Asterisk 613302 AlkB, E. COLI, HOMOLOG OF, 4; ALKBH4 ABH4
Asterisk 613303 AlkB, E. COLI, HOMOLOG OF, 5; ALKBH5 ABH5
Asterisk 613304 AlkB, E. COLI, HOMOLOG OF, 6; ALKBH6 ABH6
Asterisk 613305 AlkB, E. COLI, HOMOLOG OF, 7; ALKBH7 ABH7
Asterisk 613306 AlkB, E. COLI, HOMOLOG OF, 8; ALKBH8 ABH8
Number Sign 613307 DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79
Number Sign 613308 DIAMOND-BLACKFAN ANEMIA 9; DBA9
Number Sign 613309 DIAMOND-BLACKFAN ANEMIA 10; DBA10
Number Sign 613310 EXUDATIVE VITREORETINOPATHY 5; EVR5
Asterisk 613311 LYR MOTIF-CONTAINING PROTEIN 4; LYRM4 ISD11, S. CEREVISIAE, HOMOLOG OF; ISD11;; CHROMOSOME 6 OPEN READING FRAME 149; C6ORF149
Number Sign 613312 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2
Number Sign 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B
Asterisk 613314 RIBOSOMAL PROTEIN L37A; RPL37A
Asterisk 613315 RIBOSOMAL PROTEIN L41; RPL41 HG12
Asterisk 613316 WD REPEAT- AND FYVE DOMAIN-CONTAINING PROTEIN 4; WDFY4 KIAA1607
Asterisk 613317 DDB1- AND CUL4-ASSOCIATED FACTOR 11; DCAF11 WD REPEAT-CONTAINING PROTEIN 23; WDR23
Percent 613318 MIYOSHI MUSCULAR DYSTROPHY 2; MMD2 MIYOSHI MYOPATHY 2
Number Sign 613319 MIYOSHI MUSCULAR DYSTROPHY 3; MMD3 MIYOSHI MYOPATHY 3
Number Sign 613320 SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM CHONDRODYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
Asterisk 613321 GLUCOSIDE XYLOSYLTRANSFERASE 1; GXYLT1 GLYCOSYLTRANSFERASE 8 DOMAIN-CONTAINING PROTEIN 3; GLT8D3
Asterisk 613322 GLUCOSIDE XYLOSYLTRANSFERASE 2; GXYLT2 GLYCOSYLTRANSFERASE 8 DOMAIN-CONTAINING PROTEIN 4; GLT8D4
Asterisk 613323 FERM AND PDZ DOMAINS-CONTAINING PROTEIN 2; FRMPD2
Asterisk 613324 SPERMATOGENESIS-ASSOCIATED PROTEIN 13; SPATA13 APC-STIMULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ASEF2
Number Sign 613325 RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
Asterisk 613326 DIHYDROPYRIMIDINASE; DPYS 5,6-DIHYDROPYRIMIDINE AMIDOHYDROLASE; DHP
Number Sign 613327 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 4, WITH MUSCULAR DYSTROPHY;; LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 4, WITH MUSCULAR DYSTROPHY
NULL 613328 ROIFMAN-CHITAYAT SYNDROME COMBINED IMMUNODEFICIENCY, FACIAL DYSMORPHISM, OPTIC NERVE ATROPHY, SKELETAL ANOMALIES, AND DEVELOPMENTAL DELAY
Number Sign 613329 PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY
Number Sign 613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD
Asterisk 613331 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 1; MARCH1 MARCH I
Asterisk 613332 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 2; MARCH2 MARCH II
Asterisk 613333 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 3; MARCH3 MARCH III
Asterisk 613334 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 7; MARCH7 MARCH VII
Asterisk 613335 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 8; MARCH8 MARCH VIII;; MIR
Asterisk 613336 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 9; MARCH9 MARCH IX
Asterisk 613337 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 10; MARCH10 MARCH X
Asterisk 613338 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 11; MARCH11 MARCH XI
Percent 613339 EPILEPSY, HOT WATER, 1; HWE1 BATHING EPILEPSY;; WATER IMMERSION EPILEPSY
Percent 613340 EPILEPSY, HOT WATER, 2; HWE2
Number Sign 613341 LEBER CONGENITAL AMAUROSIS 14; LCA14 RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED, INCLUDED;; RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED, INCLUDED
NULL 613342 MSELENI JOINT DISEASE
Percent 613343 HANDIGODU JOINT DISEASE HJD;; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, HANDIGODU TYPE
Asterisk 613344 KIAA1549 GENE; KIAA1549 KIAA1549/BRAF FUSION GENE, INCLUDED
Number Sign 613345 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2
Asterisk 613346 SHISA FAMILY, MEMBER 9; SHISA9 CYSTINE-KNOT AMPA RECEPTOR-MODULATING PROTEIN, 44-KD; CKAMP44
Number Sign 613347 PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 PNCA2
Number Sign 613348 PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 PNCA3
Asterisk 613349 ORNITHINE AMINOTRANSFERASE; OAT ORNITHINE KETO ACID AMINOTRANSFERASE; OKT;; ORNITHINE DELTA-AMINOTRANSFERASE
Asterisk 613350 SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 3; SLC52A3 RIBOFLAVIN TRANSPORTER 2; RFT2;; RFVT3;; CHROMOSOME 20 OPEN READING FRAME 54; C20ORF54
Asterisk 613351 RHO GTPase-ACTIVATING PROTEIN 18; ARHGAP18
Asterisk 613352 ARGININE/SERINE-RICH COILED-COIL PROTEIN 1; RSRC1 SR-RELATED PROTEIN, 53-KD; SRRP53
Number Sign 613353 MONONEUROPATHY OF THE MEDIAN NERVE, MILD; MNMN CARPAL TUNNEL SYNDROME, SUSCEPTIBILITY TO
Asterisk 613354 TAPERIN; TPRN CHROMOSOME 9 OPEN READING FRAME 75; C9ORF75
Number Sign 613355 CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME
Asterisk 613356 TLR4 INTERACTOR WITH LEUCINE-RICH REPEATS; TRIL KIAA0644
Asterisk 613357 FIBRINOGEN C DOMAIN-CONTAINING PROTEIN 1; FIBCD1
Asterisk 613358 ALDEHYDE DEHYDROGENASE 16 FAMILY, MEMBER A1; ALDH16A1
Asterisk 613359 LY6/PLAUR DOMAIN-CONTAINING PROTEIN 6; LYPD6
Asterisk 613360 DAMAGE-REGULATED AUTOPHAGY MODULATOR 2; DRAM2 TRANSMEMBRANE PROTEIN 77; TMEM77
Asterisk 613361 SOLUTE CARRIER FAMILY 18, MEMBER B1; SLC18B1 CHROMOSOME 6 OPEN READING FRAME 192; C6ORF192
Asterisk 613362 CDK2-INTERACTING PROTEIN; CINP
Asterisk 613363 WD REPEAT-CONTAINING PROTEIN 34; WDR34
Percent 613364 SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT; SPG41
Asterisk 613365 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 6A1; SLCO6A1 GONAD-SPECIFIC TRANSPORTER; GST
Asterisk 613366 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 6; SLC10A6 SODIUM-DEPENDENT ORGANIC ANION TRANSPORTER; SOAT
Asterisk 613367 LIN54, C. ELEGANS, HOMOLOG OF; LIN54
Asterisk 613368 CARNOSINE SYNTHASE 1; CARNS1 ATP-GRASP DOMAIN-CONTAINING PROTEIN 1; ATPGD1;; KIAA1394
Asterisk 613369 DEAD BOX HELICASE 42; DDX42 DEAD BOX POLYPEPTIDE 42;; RNA HELICASE-LIKE PROTEIN; RHELP;; SPLICING FACTOR 3B, 125-KD SUBUNIT; SF3B125
Number Sign 613370 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10
Percent 613371 SPINOCEREBELLAR ATAXIA 30; SCA30
Asterisk 613372 UFM1-SPECIFIC LIGASE 1; UFL1 NOVEL LZAP-BINDING PROTEIN; NLBP;; KIAA0776;; RCAD
Asterisk 613373 YEATS DOMAIN-CONTAINING PROTEIN 2; YEATS2 KIAA1197
Asterisk 613374 COILED-COIL DOMAIN-CONTAINING PROTEIN 101; CCDC101 STAF36
Number Sign 613375 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11
Number Sign 613376 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC; HMN2C HMN IIC;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC; DHMN2C
Asterisk 613377 SH3 DOMAIN-CONTAINING RING FINGER PROTEIN 2; SH3RF2 HEART PROTEIN PHOSPHATASE 1-BINDING PROTEIN; HEPP1
Asterisk 613378 AIG2-LIKE DOMAIN-CONTAINING PROTEIN 1; A2LD1 GAMMA-GLUTAMYLAMINE CYCLOTRANSFERASE; GGACT
Asterisk 613379 CARBOXYMETHYLENEBUTENOLIDASE-LIKE PROTEIN; CMBL CARBOXYMETHYLENEBUTENOLIDASE, PSEUDOMONAS, HOMOLOG OF
Asterisk 613380 H6 FAMILY HOMEOBOX 3; HMX3 NKX5.1
Asterisk 613381 CYSTATHIONINE BETA-SYNTHASE; CBS
Number Sign 613382 BRACHYDACTYLY, TYPE E2; BDE2
Asterisk 613383 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 54; ANKRD54 LYN-INTERACTING ANKYRIN REPEAT PROTEIN; LIAR
Asterisk 613384 CYCLIN L1; CCNL1 ACTIVITY- AND NEUROTRANSMITTER-INDUCED GENE 6A; ANIA6A
Number Sign 613385 AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD
Asterisk 613386 PROTEASOME MATURATION PROTEIN; POMP UMP1, YEAST, HOMOLOG OF; UMP1;; PROTEASSEMBLIN
Percent 613387 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2; NAFLD2
Number Sign 613388 FANCONI RENOTUBULAR SYNDROME 2; FRTS2
Asterisk 613389 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1C1; SLCO1C1 ORGANIC ANION TRANSPORTER F; OATPF;; ORGANIC ANION TRANSPORTER POLYPEPTIDE 14; OATP14;; SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 14; SLC21A14
Number Sign 613390 FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO
Number Sign 613391 DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A DEAFNESS, AUTOSOMAL RECESSIVE 84; DFNB84;; DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION
Percent 613392 DEAFNESS, AUTOSOMAL RECESSIVE 85; DFNB85
Number Sign 613393 BIRBECK GRANULE DEFICIENCY BIRBECK GRANULES, ABSENCE OF
Asterisk 613394 MICRO RNA 138-1; MIR138-1 miRNA138-1;; MIRN138-1
Asterisk 613395 MICRO RNA 138-2; MIR138-2 miRNA138-2;; MIRN138-2
Asterisk 613396 DOWN SYNDROME CRITICAL REGION GENE 8; DSCR8 MALIGNANT MELANOMA-ASSOCIATED PROTEIN 1; MMA1
Asterisk 613397 ADVILLIN; AVIL
Number Sign 613398 WARSAW BREAKAGE SYNDROME; WABS
Number Sign 613399 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3, INCLUDED;; OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3, INCLUDED
Asterisk 613400 ACIREDUCTONE DIOXYGENASE 1; ADI1 SUBMERGENCE-INDUCED PROTEIN-LIKE; SIPL;; MT1-MMP CYTOPLASMIC TAIL-BINDING PROTEIN 1; MTCBP1
Asterisk 613401 VPS33B-INTERACTING PROTEIN, APICAL-BASOLATERAL POLARITY REGULATOR, SPE39 HOMOLOG; VIPAS39 VPS33B-INTERACTING PROTEIN, APICAL-BASOLATERAL POLARITY REGULATOR; VIPAR;; SPE39, C. ELEGANS, HOMOLOG OF; SPE39;; CHROMOSOME 14 OPEN READING FRAME 133; C14ORF133
Number Sign 613402 MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10; EIEE10
Asterisk 613403 TRANSMEMBRANE PROTEIN 127; TMEM127
Number Sign 613404 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2
Asterisk 613405 MICRO RNA 2861; MIR2861 miRNA 2861;; MIRN2861
Number Sign 613406 WITTEVEEN-KOLK SYNDROME; WITKOS CHROMOSOME 15q24 DELETION SYNDROME, INCLUDED;; CHROMOSOME 15q24 DUPLICATION SYNDROME, INCLUDED
Percent 613407 LEPROSY, SUSCEPTIBILITY TO, 6; LPRS6
Asterisk 613408 COILED-COIL DOMAIN-CONTAINING PROTEIN 122; CCDC122
Asterisk 613409 LACCASE (MULTICOPPER REDUCTASE) DOMAIN-CONTAINING PROTEIN 1; LACC1 CHROMOSOME 13 OPEN READING FRAME 31; C13ORF31
Number Sign 613410 AUTISM, SUSCEPTIBILITY TO, 16; AUTS16 AUTISM WITH OR WITHOUT SEIZURES
Number Sign 613411 OGUCHI DISEASE 2 NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 2; CSNBO2
Percent 613412 ESOPHAGITIS, EOSINOPHILIC, 2; EOE2
Asterisk 613413 TRANSMEMBRANE PROTEIN 106B; TMEM106B
Asterisk 613414 INTERLEUKIN 17 RECEPTOR E-LIKE; IL17REL
Asterisk 613415 CREATINE KINASE, MITOCHONDRIAL 1A; CKMT1A CREATINE KINASE, MITOCHONDRIAL 1, TELOMERIC COPY;; CKMT1, TELOMERIC COPY
Asterisk 613416 SCINDERIN; SCIN ADSEVERIN;; KIAA1905
Asterisk 613417 FAMILY WITH SEQUENCE SIMILARITY 48, MEMBER A; FAM48A p38-INTERACTING PROTEIN; P38IP;; CHROMOSOME 13 OPEN READING FRAME 19; C13ORF19
Number Sign 613418 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15; BMND15 OSTEOPOROSIS, SUSCEPTIBILITY TO;; METAPHYSEAL FRACTURE, SUSCEPTIBILITY TO;; COMPRESSION FRACTURE, SUSCEPTIBILITY TO
Asterisk 613419 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 4; ZSCAN4 ZINC FINGER PROTEIN 494; ZNF494
Asterisk 613420 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 1; KCTD1
Asterisk 613421 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 10; KCTD10
Asterisk 613422 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 2; KCTD2 KIAA0176
Asterisk 613423 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 16; KCTD16 KIAA1317
Number Sign 613424 CARDIOMYOPATHY, DILATED, 1R; CMD1R LEFT VENTRICULAR NONCOMPACTION 4, INCLUDED; LVNC4, INCLUDED
Asterisk 613425 CHROMOSOME 2 OPEN READING FRAME 71; C2ORF71
Number Sign 613426 CARDIOMYOPATHY, DILATED, 1S; CMD1S LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED; LVNC5, INCLUDED
Asterisk 613427 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 16; ANAPC16 METABOLIC SYNDROME-ASSOCIATED GENE; MSAG;; CHROMOSOME 10 OPEN READING FRAME 104; C10ORF104
Number Sign 613428 RETINITIS PIGMENTOSA 54; RP54
Asterisk 613429 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 2; HAUS2 CENTROSOMAL PROTEIN, 27-KD: CEP27
Asterisk 613430 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 3; HAUS3 DIM GAMMA-TUBULIN 3, DROSOPHILA, HOMOLOG OF; DGT3;; CHROMOSOME 4 OPEN READING FRAME 15; C4ORF15
Asterisk 613431 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 4; HAUS4 CHROMOSOME 14 OPEN READING FRAME 94; C14ORF94
Asterisk 613432 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 5; HAUS5 DIM GAMMA-TUBULIN 5, DROSOPHILA, HOMOLOG OF; DGT5;; KIAA0841
Asterisk 613433 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 6; HAUS6 DIM GAMMA-TUBULIN 6, DROSOPHILA, HOMOLOG OF; DGT6;; FAMILY WITH SEQUENCE SIMILARITY 29, MEMBER A; FAM29A
Asterisk 613434 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 8; HAUS8 DIM GAMMA-TUBULIN 4, DROSOPHILA, HOMOLOG OF; DGT4;; HEC1-INTERACTING AND CENTROSOME-ASSOCIATED PROTEIN 1; HICE1
Number Sign 613435 AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12
Number Sign 613436 AUTISM, SUSCEPTIBILITY TO, 17; AUTS17
Asterisk 613437 FCH DOMAIN ONLY PROTEIN 1; FCHO1
Asterisk 613438 FCH DOMAIN ONLY PROTEIN 2; FCHO2
Asterisk 613439 CONSORTIN; CNST
Percent 613440 STATURE QUANTITATIVE TRAIT LOCUS 21; STQTL21
Asterisk 613441 TRANSCOBALAMIN II; TCN2 TC II;; VITAMIN B12-BINDING PROTEIN 2
Asterisk 613442 PENTRAXIN 4, LONG; PTX4
Number Sign 613443 MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL, INCLUDED
Number Sign 613444 CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16, INCLUDED; BMIQ16, INCLUDED;; OBESITY, SUSCEPTIBILITY TO, INCLUDED
Caret 613445 MOVED TO 600642
Asterisk 613446 CENTROSOMAL PROTEIN, 120-KD; CEP120 COILED-COIL DOMAIN-CONTAINING PROTEIN 100; CCDC100
Asterisk 613447 SPINDLE- AND CENTRIOLE-ASSOCIATED PROTEIN 1; SPICE1 SPINDLE AND CENTRIOLE PROTEIN; SPICE;; COILED-COIL DOMAIN-CONTAINING PROTEIN 52, FORMERLY; CCDC52, FORMERLY
Asterisk 613448 CHROMOSOME 13 OPEN READING FRAME 37; C13ORF37 MITOTIC SPINDLE-ORGANIZING PROTEIN ASSOCIATED WITH A RING OF GAMMA-TUBULIN 1; MOZART1
Asterisk 613449 FAMILY WITH SEQUENCE SIMILARITY 128, MEMBER A; FAM128A MITOTIC SPINDLE-ORGANIZING PROTEIN ASSOCIATED WITH A RING OF GAMMA-TUBULIN 2A; MOZART2A
Asterisk 613450 FAMILY WITH SEQUENCE SIMILARITY 128, MEMBER B; FAM128B MITOTIC SPINDLE-ORGANIZING PROTEIN ASSOCIATED WITH A RING OF GAMMA-TUBULIN 2B; MOZART2B
Number Sign 613451 FRONTONASAL DYSPLASIA 2; FND2
Asterisk 613452 CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT GAMMA; CATSPERG
Number Sign 613453 DEAFNESS, AUTOSOMAL RECESSIVE 91; DFNB91
Number Sign 613454 RETT SYNDROME, CONGENITAL VARIANT
Asterisk 613455 MELANOMA INHIBITORY ACTIVITY FAMILY, MEMBER 3; MIA3 TRANSPORT AND GOLGI ORGANIZATION GENE 1; TANGO1;; TANGO;; KIAA0268
Number Sign 613456 FRONTONASAL DYSPLASIA 3; FND3
Number Sign 613457 CHROMOSOME 14q11-q22 DELETION SYNDROME
Number Sign 613458 CHROMOSOME 16p13.3 DUPLICATION SYNDROME
Percent 613459 BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 2; BWQTL2
Percent 613460 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 6; FGQTL6 BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 3, INCLUDED; BWQTL3, INCLUDED;; PLASMA GLUCOSE, 2-HOUR, QUANTITATIVE TRAIT LOCUS 1, INCLUDED; PGQTL1, INCLUDED
Asterisk 613461 LEPTIN RECEPTOR OVERLAPPING TRANSCRIPT; LEPROT LEPTIN RECEPTOR GENE-RELATED PROTEIN; OBRGRP
Percent 613462 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 4; FGQTL4
Number Sign 613463 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5; FGQTL5
Number Sign 613464 RETINITIS PIGMENTOSA 51; RP51
Asterisk 613465 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 7; NME7 NONMETASTATIC CELLS 7, PROTEIN EXPRESSED IN;; NM23H7;; NUCLEOSIDE DIPHOSPHATE KINASE 7
Asterisk 613466 PREFOLDIN 2; PFDN2
Asterisk 613467 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 6; ZCCHC6 TERMINAL URIDYLTRANSFERASE 7; TUT7;; KIAA1711
Asterisk 613468 N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1 ASAH;; N-ACYLSPHINGOSINE DEACYLASE;; ACID CERAMIDASE; AC;; ACID CDase;; ACDase
Asterisk 613469 HEPARANASE 2; HPSE2 HPA2
Number Sign 613470 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
Number Sign 613471 REYNOLDS SYNDROME PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA
Asterisk 613472 UNC51-LIKE KINASE 3; ULK3
Asterisk 613473 WD REPEAT-CONTAINING PROTEIN 7; WDR7 TGF-BETA RESISTANCE-ASSOCIATED GENE; TRAG;; RABCONNECTIN 3, BETA;; KIAA0541
Asterisk 613474 ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 2B; ZFAND2B AN1-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 2B;; ARSENITE-INDUCIBLE RNA-ASSOCIATED PROTEIN-LIKE PROTEIN; AIRAPL;; AIRAP-LIKE PROTEIN
Asterisk 613475 RIBOSOMAL RNA-PROCESSING FACTOR, 36-KD, S. CEREVISIAE, HOMOLOG OF; RRP36 CHROMOSOME 6 OPEN READING FRAME 153; C6ORF153
Asterisk 613476 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 6; MFSD6 MACROPHAGE MHC RECEPTOR 2; MMR2
Number Sign 613477 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5
Asterisk 613478 COILED-COIL DOMAIN-CONTAINING PROTEIN 106; CCDC106
Asterisk 613479 5-AZACYTIDINE-INDUCED GENE 1, MOUSE, HOMOLOG OF; AZI1 AZ1, MOUSE, HOMOLOG OF; AZ1;; KIAA1118
Number Sign 613480 LYMPHEDEMA, HEREDITARY, IC; LMPH1C
Asterisk 613481 COILED-COIL DOMAIN-CONTAINING PROTEIN 62: CCDC62 ESTROGEN RECEPTOR-ASSOCIATED PROTEIN, 75-KD; ERAP75
Asterisk 613482 CYCLIN L2; CCNL2
Asterisk 613483 BASIC HELIX-LOOP-HELIX FAMILY, MEMBER E22; BHLHE22 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 5; BHLHB5;; BETA3
Asterisk 613484 SPEN, DROSOPHILA, HOMOLOG OF; SPEN MSX2-INTERACTING NUCLEAR TARGET; MINT;; SMART/HDAC1-ASSOCIATED REPRESSOR PROTEIN; SHARP;; KIAA0929
Number Sign 613485 LONG QT SYNDROME 13; LQT13
Asterisk 613486 MICRO RNA 33B; MIR33B miRNA33B;; MIRN33B
Asterisk 613487 MICRO RNA 212; MIR212 miRNA212;; MIRN212;; MIR212-3p MICRO RNA 212*, INCLUDED; MIR212*, INCLUDED;; MICRO RNA 212-5p, INCLUDED; MIR212-5p, INCLUDED
Number Sign 613488 MYXOID LIPOSARCOMA
Number Sign 613489 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J CDG IIj; CDGIIj
Number Sign 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD
Asterisk 613491 ALKALINE CERAMIDASE 1; ACER1 ALKALINE CDase 1;; ALKCDase1
Asterisk 613492 ALKALINE CERAMIDASE 2; ACER2 ALKALINE CDase 2;; ALKCDase2
Number Sign 613493 IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 ANTIBODY DEFICIENCY DUE TO CD19 DEFECT
Number Sign 613494 IMMUNODEFICIENCY, COMMON VARIABLE, 4; CVID4 ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT
Number Sign 613495 IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 ANTIBODY DEFICIENCY DUE TO CD20 DEFECT
Number Sign 613496 IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6 ANTIBODY DEFICIENCY DUE TO CD81 DEFECT
Asterisk 613497 LIPASE A, LYSOSOMAL ACID; LIPA LYSOSOMAL ACID LIPASE; LAL;; CHOLESTEROL ESTER HYDROLASE
Percent 613498 SEX HORMONE-BINDING GLOBULIN CIRCULATING LEVEL QUANTITATIVE TRAIT LOCUS; SXGQTL1 TESTOSTERONE CIRCULATING LEVEL QUANTITATIVE TRAIT LOCUS, DUE TO SEX HORMONE-BINDING GLOBULIN
Asterisk 613499 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER A; HIST1H2AA HISTONE GENE CLUSTER 1, H2AA;; HIST1 CLUSTER, H2AA;; H2A HISTONE FAMILY, MEMBER R; H2AFR;; H2A/R
Number Sign 613500 AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2 AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT
Number Sign 613501 AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3 AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT
Number Sign 613502 AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4 AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT
Asterisk 613503 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-2; HLA-DQA2 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DX ALPHA; HLA-DXA;; DX-ALPHA
Asterisk 613504 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 21; ZFYVE21 ZINC FINGER PROTEIN 21; ZF21
Asterisk 613505 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 26; LRRC26 CYTOKERATIN-ASSOCIATED PROTEIN IN CANCER; CAPC
Number Sign 613506 AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5 AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT
Number Sign 613507 GLYCOGEN STORAGE DISEASE XV; GSD15 GSD XV;; GLYCOGENIN DEFICIENCY;; GYG1 DEFICIENCY
Number Sign 613508 SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1; SSQTL1 HYPONATREMIA, INCLUDED
Number Sign 613509 CHROMOSOME 4q21 DELETION SYNDROME
Asterisk 613510 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MITOGEN-ACTIVATED PROTEIN KINASE AND MAMMALIAN TARGET OF RAPAMYCIN ACTIVATOR 1; LAMTOR1 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MAPK AND MTOR ACTIVATOR 1;; p27(Kip1)-RELEASING FACTOR FROM RHOA; p27RF-Rho;; PROTEIN ASSOCIATED WITH DETERGENT-RESISTANT MEMBRANES AND ENDOSOMES; PDRO;; CHROMOSOME 11 OPEN READING FRAME 59; C11ORF59
Asterisk 613511 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 9; SPINK9 LYMPHOEPITHELIAL KAZAL-TYPE-RELATED INHIBITOR 2; LEKTI2
Asterisk 613512 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 6; ZBED6 BED-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 6
Asterisk 613513 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 11A; ZC3H11A KIAA0663
Asterisk 613514 ZONA PELLUCIDA GLYCOPROTEIN 4; ZP4 ZONA PELLUCIDA B PROTEIN; ZPB
Asterisk 613515 AUTOPHAGY 14, S. CEREVISIAE, HOMOLOG OF; ATG14 YEAST ATG14-LIKE; ATG14L;; KIAA0831;; BECN1-INTERACTING PROTEIN;; BECN1-ASSOCIATED AUTOPHAGY-RELATED KEY REGULATOR; BARKOR
Asterisk 613516 RUN DOMAIN- AND CYSTEINE-RICH DOMAIN-CONTAINING BECLIN-1-INTERACTING PROTEIN; RUBCN KIAA0226 GENE; KIAA0226;; RUBICON;; RUNDATAXIN; RDTX
Number Sign 613517 MICROPHTHALMIA, ISOLATED 6; MCOP6 MICROPHTHALMIA, POSTERIOR NONSYNDROMIC
Percent 613518 DERMATITIS, ATOPIC, 8; ATOD8 DERMATITIS, ATOPIC, SEVERITY OF
Percent 613519 DERMATITIS, ATOPIC, 9; ATOD9
Asterisk 613520 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 6; FGD6 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 24; ZFYVE24
Asterisk 613521 UROPORPHYRINOGEN DECARBOXYLASE; UROD
Asterisk 613522 OPSIN 1, SHORT-WAVE-SENSITIVE; OPN1SW BLUE CONE PIGMENT; BCP
Number Sign 613523 CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME STEM CELL LEUKEMIA/LYMPHOMA; SCLL
Asterisk 613524 SEROLOGICALLY DEFINED COLON CANCER ANTIGEN 8; SDCCAG8 CENTROSOMAL COLON CANCER AUTOANTIGEN PROTEIN; CCCAP;; NY-CO-8;; SLSN7 GENE;; NPHP10 GENE;; BBS16 GENE
Asterisk 613525 SEEK1 GENE SEEK1;; PSORIASIS SUSCEPTIBILITY 1 CANDIDATE GENE 1; PSORS1C1;; PSORS1 CANDIDATE GENE 1;; CHROMOSOME 6 OPEN READING FRAME 16; C6ORF16
Asterisk 613526 SPR1 GENE SPR1;; PSORIASIS SUSCEPTIBILITY 1 CANDIDATE GENE 2; PSORS1C2;; PSORS1 CANDIDATE GENE 2;; CHROMOSOME 6 OPEN READING FRAME 17; C6ORF17
Asterisk 613527 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 27; DNAJC27 RAB AND DNAJ DOMAIN-CONTAINING PROTEIN; RBJ
Asterisk 613528 SYNAPTOTAGMIN 9; SYT9
Asterisk 613529 CENTROSOMAL PROTEIN, 152-KD; CEP152 KIAA0912
Percent 613530 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H; LGMD1H
Asterisk 613531 PHOSPHATASE AND TENSIN HOMOLOG PSEUDOGENE; PTENP1
Asterisk 613532 RAS-ASSOCIATED PROTEIN RAB8B; RAB8B
Number Sign 613533 CHROMOSOME 17q21.31 DUPLICATION SYNDROME
Asterisk 613534 FANCD2/FANCI-ASSOCIATED NUCLEASE 1; FAN1 MYOTUBULARIN-RELATED PROTEIN 15; MTMR15;; KIAA1018
Asterisk 613535 KIAA0319-LIKE; KIAA0319L KIAA1837;; ADENO-ASSOCIATED VIRUS RECEPTOR; AAVR
Asterisk 613536 LEUCINE-, GLUTAMATE-, AND LYSINE-RICH PROTEIN 1; LEKR1
Asterisk 613537 NLR FAMILY, CASPASE RECRUITMENT DOMAIN-CONTAINING 5; NLRC5 NLR FAMILY, CARD-CONTAINING 5
Asterisk 613538 FEM1, C. ELEGANS, HOMOLOG OF, A; FEM1A
Asterisk 613539 FEM1, C. ELEGANS, HOMOLOG OF, B; FEM1B FEM1-LIKE PROTEIN IN APOPTOTIC PATHWAY, ALPHA;; F1A-ALPHA;; KIAA0396
Asterisk 613540 SERINE PALMITOYLTRANSFERASE, SMALL SUBUNIT, A; SPTSSA SMALL SUBUNIT OF SERINE PALMITOYLTRANSFERASE A; SSSPTA;; CHROMOSOME 14 OPEN READING FRAME 147; C14ORF147
Asterisk 613541 CHROMOSOME 12 OPEN READING FRAME 65; C12ORF65
Asterisk 613542 MITOCHONDRIAL TRANSLATIONAL RELEASE FACTOR 1-LIKE; MTRF1L MTRF1A;; HUMAN MITOCHONDRIAL RELEASE FACTOR 1-LIKE; HMRF1L
Asterisk 613543 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 5A1; SLCO5A1 ORGANIC ANION TRANSPORTER POLYPEPTIDE-RELATED PROTEIN 4; OATPRP4;; SOLUTE CARRIER FAMILY 21, MEMBER 15; SLC21A15;; ORGANIC ANION TRANSPORTER POLYPEPTIDE J; OATPJ;; OATP5A1
Number Sign 613544 CHROMOSOME 6q11-q14 DELETION SYNDROME CHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED
Percent 613545 MACROSTOMIA, ISOLATED LATERAL CLEFT, ISOLATED;; COMMISSURAL CLEFT, ISOLATED;; TRANSVERSE CLEFT, ISOLATED
Number Sign 613546 AROMATASE DEFICIENCY PSEUDOHERMAPHRODITISM, FEMALE, DUE TO PLACENTAL AROMATASE DEFICIENCY
Percent 613547 STATURE QUANTITATIVE TRAIT LOCUS 22; STQTL22
Percent 613548 STATURE QUANTITATIVE TRAIT LOCUS 23; STQTL23
Percent 613549 STATURE QUANTITATIVE TRAIT LOCUS 24; STQTL24
Number Sign 613550 NEPHRONOPHTHISIS 11; NPHP11
Number Sign 613551 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6
Asterisk 613552 GAMMA-SECRETASE-ACTIVATING PROTEIN; GSAP PIGEON, DROSOPHILA, HOMOLOG OF; PION
Asterisk 613553 X-PROLYL AMINOPEPTIDASE 3; XPNPEP3 AMINOPEPTIDASE P3; APP3
Number Sign 613554 VON WILLEBRAND DISEASE, TYPE 2; VWD2 VON WILLEBRAND DISEASE, TYPE II;; VWD, TYPE 2 VON WILLEBRAND DISEASE, TYPE 2A, INCLUDED; VWD2A, INCLUDED;; VON WILLEBRAND DISEASE, TYPE 2B, INCLUDED; VWD2B, INCLUDED;; VON WILLEBRAND DISEASE, TYPE 2M, INCLUDED; VWD2M, INCLUDED;; VON WILLEBRAND DISEASE, TYPE 2N, INCLUDED; VWD2N, INCLUDED
Asterisk 613555 TET ONCOGENE FAMILY, MEMBER 3; TET3 KIAA0401
Asterisk 613556 MICRO RNA 659; MIR659 miRNA659;; MIRN659
Caret 613557 MOVED TO 604213
Number Sign 613558 DEAFNESS, AUTOSOMAL DOMINANT 51; DFNA51 CHROMOSOME 9q21.11 DUPLICATION SYNDROME
Number Sign 613559 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7
Asterisk 613560 N-TERMINAL X-PRO-LYS N-METHYLTRANSFERASE 1; NTMT1 METHYLTRANSFERASE-LIKE 11A; METTL11A;; N-TERMINAL RCC1 METHYLTRANSFERASE; NRMT;; RCC1 METHYLTRANSFERASE, N-TERMINAL;; C9ORF32
Number Sign 613561 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2
Asterisk 613562 Fc RECEPTOR-LIKE PROTEIN 6; FCRL6 FCRH6
Number Sign 613563 NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL CBL SYNDROME;; CBL MUTATION-ASSOCIATED SYNDROME
Number Sign 613564 CHROMOSOME 2p12-p11.2 DELETION SYNDROME
Asterisk 613565 UBIQUITINATION FACTOR E4B; UBE4B UFD2, S. CEREVISIAE, HOMOLOG OF, A; UFD2A;; KIAA0684
Number Sign 613566 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6; HBFQTL6 HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED
Asterisk 613567 ZINC FINGER, MYM-TYPE 6; ZMYM6 ZINC FINGER PROTEIN 258; ZNF258;; ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 7; ZBED7;; BUSTER2;; KIAA1353
Asterisk 613568 ZINC FINGER, MYM-TYPE 4; ZMYM4 ZINC FINGER PROTEIN 262; ZNF262;; KIAA0425 CELL DEATH-INHIBITING RNA, INCLUDED; CDIR, INCLUDED
Asterisk 613569 SAD1 AND UNC84 DOMAIN-CONTAINING PROTEIN 2; SUN2 SUN DOMAIN-CONTAINING PROTEIN 2;; UNC84, C. ELEGANS, HOMOLOG OF, B; UNC84B;; KIAA0668
Asterisk 613570 LIPID DROPLET ASSOCIATED HYDROLASE; LDAH CHROMOSOME 2 OPEN READING FRAME 43; C2ORF43
Number Sign 613571 DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY ADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY;; DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY
Asterisk 613572 G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 6, MEMBER A; GPRC6A
Number Sign 613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1; EDSS1
Asterisk 613574 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 39B; TTC39B
Number Sign 613575 RETINITIS PIGMENTOSA 55; RP55
Percent 613576 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2; EDSS2
Asterisk 613577 TBC1 DOMAIN FAMILY, MEMBER 24; TBC1D24 KIAA1171
Asterisk 613578 PROTEASE, SERINE, 3; PRSS3 TRYPSINOGEN 3; TRY3;; MESOTRYPSINOGEN;; T9 TRYPSIN 3, INCLUDED;; MESOTRYPSIN, INCLUDED;; TRYPSINOGEN 4, INCLUDED; TRY4, INCLUDED;; TRYPSIN 4, INCLUDED
Asterisk 613579 C-TYPE LECTIN DOMAIN FAMILY 6, MEMBER A; CLEC6A DECTIN 2;; CLEC4N, MOUSE, HOMOLOG OF
Asterisk 613580 WD REPEAT-CONTAINING PLANAR CELL POLARITY EFFECTOR; WDPCP CHROMOSOME 2 OPEN READING FRAME 86; C2ORF86;; FRITZ, DROSOPHILA, HOMOLOG OF;; BBS15 GENE; BBS15
Number Sign 613581 RETINITIS PIGMENTOSA 56; RP56
Number Sign 613582 RETINITIS PIGMENTOSA 57; RP57
Asterisk 613583 WD REPEAT-CONTAINING PROTEIN 62; WDR62 C19ORF14
Asterisk 613584 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER L2; ALDH1L2 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE, MITOCHONDRIAL;; MITOCHONDRIAL 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE
Asterisk 613585 TRANSMEMBRANE PROTEIN 147; TMEM147
Asterisk 613586 NIN1/RPN12-BINDING PROTEIN 1, S. CEREVISIAE, HOMOLOG OF; NOB1
Number Sign 613587 OCCULT MACULAR DYSTROPHY; OCMD OMD
Asterisk 613588 C-TYPE LECTIN DOMAIN FAMILY 3, MEMBER A; CLEC3A LECTIN, C-TYPE, SUPERFAMILY MEMBER 1; CLECSF1
Number Sign 613589 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6; LDLCQ6
Asterisk 613590 BUTYROPHILIN, SUBFAMILY 2, MEMBER A1; BTN2A1 BT2.1;; BTF1
Asterisk 613591 BUTYROPHILIN, SUBFAMILY 2, MEMBER A2; BTN2A2 BTF2;; BT2.2
Asterisk 613592 BUTYROPHILIN, SUBFAMILY 2, MEMBER A3; BTN2A3
Asterisk 613593 BUTYROPHILIN, SUBFAMILY 3, MEMBER A1; BTN3A1 BT3.1;; BTF5;; CD277
Asterisk 613594 BUTYROPHILIN, SUBFAMILY 3, MEMBER A2; BTN3A2 BT3.2;; BTF4
Asterisk 613595 BUTYROPHILIN, SUBFAMILY 3, MEMBER A3; BTN3A3 BTF3
Asterisk 613596 FAMILY WITH SEQUENCE SIMILARITY 161, MEMBER A; FAM161A
Asterisk 613597 4-HYDROXY-2-OXOGLUTARATE ALDOLASE 1; HOGA1 DIHYDRODIPICOLINATE SYNTHASE-LIKE, MITOCHONDRIAL; DHDPSL
Asterisk 613598 ZINC FINGER PROTEIN 513; ZNF513
Asterisk 613599 ABHYDROLASE DOMAIN-CONTAINING PROTEIN 12; ABHD12
NULL 613600 TORSADE DE POINTES, SHORT-COUPLED VARIANT
NULL 613601 EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION EARLY REPOLARIZATION SYNDROME
Asterisk 613602 WD REPEAT-CONTAINING PROTEIN 35; WDR35 NAOFEN;; INTRAFLAGELLAR TRANSPORT 121, CHLAMYDOMONAS, HOMOLOG OF; IFT121;; KIAA1336
Number Sign 613603 CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME
Number Sign 613604 CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB
Asterisk 613605 BBS PROTEIN COMPLEX-INTERACTING PROTEIN 1; BBIP1 BBSOME-INTERACTING PROTEIN 1;; BBS PROTEIN COMPLEX-INTERACTING PROTEIN, 10-KD; BBIP10;; BBS18 GENE;; NONCODING RNA 81, FORMERLY; NCRNA00081, FORMERLY
Percent 613606 FORSYTHE-WAKELING SYNDROME; FWS MICROCEPHALY AND GROWTH RETARDATION WITH CHILDHOOD-ONSET NEPHROTIC SYNDROME AND THROMBOCYTOPENIA
Asterisk 613607 THYMOCYTE SELECTION-ASSOCIATED PROTEIN; THEMIS THYMOCYTE-EXPRESSED MOLECULE INVOLVED IN SELECTION;; THYMOCYTE SELECTION-ASSOCIATED PROTEIN FAMILY, MEMBER 1; THEMIS1;; GRB2-ASSOCIATED PROTEIN; GASP;; SIGNALING PHOSPHOPROTEIN SPECIFIC FOR T CELLS; SPOT;; CHROMOSOME 6 OPEN READING FRAME 190; C6ORF190
Percent 613608 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3; FAME3 CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3; FCMTE3
Asterisk 613609 HFE GENE; HFE HLAH
Number Sign 613610 CRANIOECTODERMAL DYSPLASIA 2; CED2
Number Sign 613611 CHOANAL ATRESIA AND LYMPHEDEMA; CATLPH
Number Sign 613612 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I CDG IIi; CDGIIi
Asterisk 613613 MICRO RNA 208B; MIR208B miRNA208B;; MIRN208B
Asterisk 613614 MICRO RNA 499; MIR499 miRNA499;; MIRN499
Number Sign 613615 SENIOR-LOKEN SYNDROME 7; SLSN7
Number Sign 613616 HYPEROXALURIA, PRIMARY, TYPE III; HP3
Number Sign 613617 RETINITIS PIGMENTOSA 58; RP58
Number Sign 613618 CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME
Asterisk 613619 SCAVENGER RECEPTOR CLASS F, MEMBER 2; SCARF2 SCAVENGER RECEPTOR EXPRESSED BY ENDOTHELIAL CELLS 2; SREC2;; SREC II
Asterisk 613620 TBC1 DOMAIN FAMILY, MEMBER 10B; TBC1D10B RAB27AGAP-BETA
Asterisk 613621 NUCLEOTIDE-BINDING PROTEIN-LIKE PROTEIN; NUBPL IRON-SULFUR PROTEIN REQUIRED FOR NADH DEHYDROGENASE; IND1
Asterisk 613622 FAD-DEPENDENT OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 1; FOXRED1
NULL 613623 AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA
Asterisk 613624 ZINC FINGER PROTEIN 592; ZNF592 KIAA0211
Number Sign 613625 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2; F5F8D2
Caret 613626 MOVED TO 255500
NULL 613627 BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY, PTOSIS, HEARING LOSS, AND MENTAL RETARDATION TSUKAHARA SYNDROME
Percent 613628 ODONTOID HYPOPLASIA
Asterisk 613629 PIEZO-TYPE MECHANOSENSITIVE ION CHANNEL COMPONENT 2; PIEZO2 FAMILY WITH SEQUENCE SIMILARITY 38, MEMBER B; FAM38B
Number Sign 613630 COCOON SYNDROME FETAL ENCASEMENT SYNDROME
Asterisk 613631 WASH COMPLEX, SUBUNIT 2C; WASHC2C FAMILY WITH SEQUENCE SIMILARITY 21, MEMBER C; FAM21C;; VACCINIA VIRUS PENETRATION FACTOR; VPEF;; KIAA0592
Asterisk 613632 WASH COMPLEX, SUBUNIT 1; WASHC1 WAS PROTEIN FAMILY HOMOLOG 1; WASH1;; WASH
Asterisk 613633 DENN/MADD DOMAIN-CONTAINING PROTEIN 1A; DENND1A CONNECDENN;; CONNECDENN 1;; KIAA1608
Asterisk 613634 DENN/MADD DOMAIN-CONTAINING PROTEIN 1C; DENND1C CONNECDENN 3
Asterisk 613635 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 1; EIF2AK1 HEME-REGULATED INHIBITOR; HRI
Percent 613636 TUBERCULIN SKIN TEST REACTIVITY, ABSENCE OF TST REACTIVITY, ABSENCE OF;; TST1
Percent 613637 TUBERCULIN SKIN TEST REACTIVITY QUANTITATIVE TRAIT LOCUS TST REACTIVITY QUANTITATIVE TRAIT LOCUS;; TST2
Number Sign 613638 CHROMOSOME 19p13.13 DELETION SYNDROME CHROMOSOME 19p13.13 DUPLICATION SYNDROME, INCLUDED
Asterisk 613639 ADHESION G PROTEIN-COUPLED RECEPTOR D1; ADGRD1 G PROTEIN-COUPLED RECEPTOR 133; GPR133;; PGR25
Number Sign 613640 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C HSAN IC;; NEUROPATHY, HEREDITARY SENSORY, TYPE IC; HSN1C;; HSN IC
Number Sign 613641 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B; RI-CMTB
Number Sign 613642 CARDIOMYOPATHY, DILATED, 1GG; CMD1GG
Number Sign 613643 PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5
Asterisk 613644 ACTIVATING TRANSCRIPTION FACTOR 7-INTERACTING PROTEIN; ATF7IP ATF7-INTERACTING PROTEIN;; ATFA MODULATOR, MOUSE, HOMOLOG OF; AM;; MBD1-CONTAINING CHROMATIN-ASSOCIATED FACTOR; MCAF;; MCAF1
Asterisk 613645 ACTIVATING TRANSCRIPTION FACTOR 7-INTERACTING PROTEIN 2; ATF7IP2 ATF7-INTERACTING PROTEIN 2;; MBD1-CONTAINING CHROMATIN-ASSOCIATED FACTOR 2; MCAF2
Number Sign 613646 METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT METHYLMALONIC ACIDEMIA, TCblR TYPE
Number Sign 613647 SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48
Asterisk 613648 MATERNALLY EXPRESSED GENE 8; MEG8
Asterisk 613649 SMALL NUCLEOLAR RNA, C/D BOX, 112; SNORD112 snoRNA 14q(0)
Asterisk 613650 SMALL NUCLEOLAR RNA, C/D BOX, 113-1; SNORD113-1 snoRNA 14q(I-1)
Asterisk 613651 SMALL NUCLEOLAR RNA, C/D BOX, 114-1; SNORD114-1 snoRNA 14q(II-1)
Number Sign 613652 C1q DEFICIENCY; C1QD
Asterisk 613653 ADAPTOR-RELATED PROTEIN COMPLEX 5, ZETA-1 SUBUNIT; AP5Z1 KIAA0415;; SPG48 GENE
Asterisk 613654 MICRO RNA 380; MIR380 miRNA380;; MIRN380;; MIR380-3p MICRO RNA 380*, INCLUDED; MIR380*, INCLUDED;; MIR380-5p, INCLUDED
Asterisk 613655 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 18; KCNK18 TWIK-RELATED SPINAL CORD K+ CHANNEL; TRESK;; TWIK-RELATED INDIVIDUAL K+ CHANNEL; TRIK
Number Sign 613656 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13
Number Sign 613657 D-2-HYDROXYGLUTARIC ACIDURIA 2; D2HGA2
Percent 613658 RAJAB SYNDROME DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS
Number Sign 613659 GASTRIC CANCER GASTRIC CANCER, INTESTINAL, INCLUDED
Number Sign 613660 CONE-ROD DYSTROPHY 15; CORD15 RETINITIS PIGMENTOSA 65, INCLUDED; RP65, INCLUDED
Number Sign 613661 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P
Number Sign 613662 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, POLG-RELATED;; MNGIE, POLG-RELATED
Asterisk 613663 SHQ1, S. CEREVISIAE, HOMOLOG OF; SHQ1
Asterisk 613664 SMOOTHELIN-LIKE 1; SMTNL1 CALPONIN HOMOLOGY-ASSOCIATED SMOOTH MUSCLE PROTEIN; CHASM
Asterisk 613665 ATYPICAL CHEMOKINE RECEPTOR 1; ACKR1 DUFFY ANTIGEN RECEPTOR FOR CHEMOKINES; DARC;; DUFFY CHEMOKINE RECEPTOR;; FY GLYCOPROTEIN;; GLYCOPROTEIN D; GPD
Asterisk 613666 ALG11, S. CEREVISIAE, HOMOLOG OF; ALG11 ASPARAGINE-LINKED GLYCOSYLATION 11, S. CEREVISIAE, HOMOLOG OF;; KIAA0266
Asterisk 613667 SINE OCULIS-BINDING PROTEIN, DROSOPHILA, HOMOLOG OF; SOBP JACKSON CIRCLER PROTEIN 1, MOUSE, HOMOLOG OF; JXC1
Number Sign 613668 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
Asterisk 613669 MITOCHONDRIAL POLY(A) POLYMERASE; MTPAP POLY(A) POLYMERASE, MITOCHONDRIAL;; POLY(A) POLYMERASE-ASSOCIATED DOMAIN-CONTAINING PROTEIN 1; PAPD1;; PAP-ASSOCIATED DOMAIN-CONTAINING PROTEIN 1
Number Sign 613670 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
Number Sign 613671 MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS
Number Sign 613672 SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4
Number Sign 613673 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV; CDAN4 CDA, TYPE IV
Number Sign 613674 VESICOURETERAL REFLUX 3; VUR3
Number Sign 613675 CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;; NF1 MICRODELETION SYNDROME;; VAN ASPEREN SYNDROME NF1 MICRODUPLICATION SYNDROME, INCLUDED
Number Sign 613676 SECKEL SYNDROME 4; SCKL4
Number Sign 613677 HYPERALDOSTERONISM, FAMILIAL, TYPE III; HALD3 FH III
Percent 613678 BRACHYOLMIA TYPE 2; BCYM2 BRACHYOLMIA, MAROTEAUX TYPE
Number Sign 613679 PROTHROMBIN DEFICIENCY, CONGENITAL HYPOPROTHROMBINEMIA DYSPROTHROMBINEMIA, INCLUDED
Number Sign 613680 BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS
Number Sign 613681 CHROMOSOME 2q31.1 DUPLICATION SYNDROME MESOMELIC DYSPLASIA, 2q31.1 DUPLICATION-RELATED
Asterisk 613682 MICRO RNA 130B; MIR130B miRNA130B;; MIRN130B
Asterisk 613683 SOLUTE CARRIER FAMILY 50 (SUGAR TRANSPORTER), MEMBER 1; SLC50A1 RAG1-ACTIVATING PROTEIN 1; RAG1AP1;; SUGAR EFFLUX TRANSPORTER 1; SWEET1
Number Sign 613684 RUBINSTEIN-TAYBI SYNDROME 2; RSTS2
Percent 613685 DEAFNESS, AUTOSOMAL RECESSIVE 83; DFNB83
Number Sign 613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4
Asterisk 613687 PARP1-BINDING PROTEIN; PARPBP ANTISENSE RNA OVERLAPPING MCH; AROM;; CHROMOSOME 12 OPEN READING FRAME 48; C12ORF48
Number Sign 613688 LONG QT SYNDROME 2; LQT2 LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;; LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;; LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;; LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;; LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED
Percent 613689 MAMMARY-DIGITAL-NAIL SYNDROME; MDNS
Number Sign 613690 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7
Asterisk 613691 GRAM DOMAIN-CONTAINING PROTEIN 4; GRAMD4 DEATH-INDUCING PROTEIN; DIP;; KIAA0767
Asterisk 613692 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 11; ZCCHC11 KIAA0191;; TERMINAL URIDYLTRANSFERASE 4; TUT4
Number Sign 613693 LONG QT SYNDROME 6; LQT6 LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;; LONG QT SYNDROME 3/6, DIGENIC, INCLUDED; LQT3/6, DIGENIC, INCLUDED
Number Sign 613694 CARDIOMYOPATHY, DILATED, 1U; CMD1U
Number Sign 613695 LONG QT SYNDROME 5; LQT5 LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;; LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED
Asterisk 613696 UPSTREAM BINDING TRANSCRIPTION FACTOR (RNA POLYMERASE I)-LIKE 1; UBTFL1 HMG-BOX PROTEIN, PREIMPLANTATION STAGE-SPECIFIC; HMGPI;; UBTF-LIKE 1
Number Sign 613697 CARDIOMYOPATHY, DILATED, 1V; CMD1V
Asterisk 613698 SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER 20; SLC25A20 CARNITINE-ACYLCARNITINE TRANSLOCASE; CACT;; CARNITINE-ACYLCARNITINE CARRIER; CAC
Asterisk 613699 GLYCOSYLTRANSFERASE 6 DOMAIN-CONTAINING 1; GLT6D1 GT6M7;; GLTDC1
Number Sign 613700 SUPERNUMERARY DER(22)t(8;22) SYNDROME
Asterisk 613701 MICRO RNA 328; MIR328 miRNA328;; MIRN328
Number Sign 613702 KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT; KFS3
Number Sign 613703 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6
Number Sign 613704 MICROPHTHALMIA, ISOLATED 7; MCOP7
Number Sign 613705 OROFACIAL CLEFT 10; OFC10 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 10
Number Sign 613706 NOONAN SYNDROME 7; NS7
Number Sign 613707 LEOPARD SYNDROME 3; LPRD3
Number Sign 613708 NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D
Asterisk 613709 EUKARYOTIC TRANSLATION INITIATION FACTOR 2D; EIF2D HEPATOCELLULAR CARCINOMA-ASSOCIATED ANTIGEN 56; HCA56;; LIGATIN, FORMERLY; LGTN, FORMERLY
Number Sign 613710 THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE); THMD4 BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY;; STRIATAL NECROSIS, BILATERAL, AND PROGRESSIVE POLYNEUROPATHY
Number Sign 613711 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3; HSCR3
Number Sign 613712 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4; HSCR4
Asterisk 613713 PCI DOMAIN-CONTAINING PROTEIN 2; PCID2
Asterisk 613714 B7 HOMOLOG 6 B7H6
Asterisk 613715 POLYMERASE I, RNA, SUBUNIT D; POLR1D RNA POLYMERASE A, 16-KD, MOUSE, HOMOLOG OF; RPA16;; RPAC2
Asterisk 613716 MICRO RNA 661; MIR661 miRNA661;; MIRN661
Number Sign 613717 TREACHER COLLINS SYNDROME 2; TCS2
Number Sign 613718 DEAFNESS, AUTOSOMAL RECESSIVE 74; DFNB74
Asterisk 613719 METHIONINE SULFOXIDE REDUCTASE B3; MSRB3
Number Sign 613720 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7; EIEE7
Number Sign 613721 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11
Number Sign 613722 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12
Number Sign 613723 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q; LGMD2Q
Number Sign 613724 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY; LKDMN STEROL CARRIER PROTEIN 2 DEFICIENCY
Asterisk 613725 SOLUTE CARRIER FAMILY 25, MEMBER 17; SLC25A27 UNCOUPLING PROTEIN 4; UCP4
Asterisk 613726 ANOCTAMIN 10; ANO10 TRANSMEMBRANE PROTEIN 16K; TMEM16K
Asterisk 613727 KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 13; KBTBD13
Number Sign 613728 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10
Number Sign 613729 CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
Number Sign 613730 HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS; HDBSCC
Number Sign 613731 RETINITIS PIGMENTOSA 4; RP4 RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
Caret 613732 MOVED TO 256040
Asterisk 613733 MEN1 GENE; MEN1 MENIN
Asterisk 613734 COILED-COIL DOMAIN-CONTAINING PROTEIN 115; CCDC115 COILED-COIL PROTEIN 1; CCP1
Number Sign 613735 BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD CHROMOSOME 1p32-p31 DELETION SYNDROME, INCLUDED
Number Sign 613736 ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2
Number Sign 613737 ACNE INVERSA, FAMILIAL, 3; ACNINV3
Asterisk 613738 ALKYLGLYCEROL MONOOXYGENASE; AGMO GLYCERYL-ETHER MONOOXYGENASE;; TRANSMEMBRANE PROTEIN 195: TMEM195
Asterisk 613739 THYMOCYTE NUCLEAR PROTEIN 1; THYN1 HEMATOPOIETIC STEM/PROGENITOR CELL-EXPRESSED GENE 144; HSPC144;; THY28, CHICKEN, HOMOLOG OF; THY28
Caret 613740 MOVED TO 115200
Asterisk 613741 GLYCOGEN PHOSPHORYLASE, LIVER; PYGL LGP
Asterisk 613742 GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC GLUCOSE-6-PHOSPHATASE, CATALYTIC, 1; G6PC1;; G6PT, FORMERLY
Number Sign 613743 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE P450scc DEFICIENCY
Number Sign 613744 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 4, FORMERLY; CPSQ4, FORMERLY
Asterisk 613745 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 10; ANAPC10 APC10;; DOC1, S. CEREVISIAE, HOMOLOG OF; DOC1
Asterisk 613746 BREAST CANCER ANTIESTROGEN RESISTANCE 4; BCAR4
Asterisk 613747 KINESIN FAMILY MEMBER 24; KIF24
Asterisk 613748 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 3; CHCHD3 MITOCHONDRIAL INNER MEMBRANE ORGANIZING SYSTEM PROTEIN 3; MINOS3 MICOS PROTEIN 3;; MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 19-KD SUBUNIT; MIC19;; MICOS COMPLEX, 19-KD SUBUNIT
Asterisk 613749 ZINC FINGER PROTEIN 260; ZNF260 ZFP260;; PHENYLEPHRINE RESPONSE ELEMENT COMPLEX 1, RAT, HOMOLOG OF; PEX1
Number Sign 613750 RETINITIS PIGMENTOSA 27; RP27 RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, CLUMPED PIGMENT TYPE, INCLUDED
Number Sign 613751 HETEROTAXY, VISCERAL, 4, AUTOSOMAL; HTX4
Number Sign 613752 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
Asterisk 613753 MICRO RNA 211; MIR211 miRNA211;; MIRN211
Asterisk 613754 RING FINGER PROTEIN 187; RNF187 RING DOMAIN AP1 COACTIVATOR 1; RACO1
Asterisk 613755 MICRO RNA 326; MIR326 miRNA326;; MIRN326
Number Sign 613756 RETINITIS PIGMENTOSA 49; RP49
Number Sign 613757 MACULAR DEGENERATION, AGE-RELATED, 6; ARMD6
Number Sign 613758 RETINITIS PIGMENTOSA 47; RP47
Number Sign 613759 INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS FADD DEFICIENCY
Asterisk 613760 SOLUTE CARRIER FAMILY 36, MEMBER 4; SLC36A4 PROTON/AMINO ACID TRANSPORTER 4; PAT4
Number Sign 613761 MACULAR DEGENERATION, AGE-RELATED, 5; ARMD5
Number Sign 613762 46,XY SEX REVERSAL 6; SRXY6 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED;; 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED
Number Sign 613763 CATARACT 16, MULTIPLE TYPES; CTRCT16 CATARACT, POSTERIOR POLAR, 2; CTPP2;; CATARACT, CONGENITAL LAMELLAR
Asterisk 613764 SECRETORY CARRIER MEMBRANE PROTEIN 4; SCAMP4
Number Sign 613765 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9
Asterisk 613766 SECRETORY CARRIER MEMBRANE PROTEIN 5; SCAMP5
Number Sign 613767 RETINITIS PIGMENTOSA 45; RP45
Asterisk 613768 RING FINGER PROTEIN 213; RNF213 ALK LYMPHOMA OLIGOMERIZATION PARTNER ON CHROMOSOME 17; ALO17;; KIAA1618 RNF213/ALK FUSION GENE, INCLUDED
Number Sign 613769 RETINITIS PIGMENTOSA 44; RP44
Asterisk 613770 PLACENTA-SPECIFIC GENE 4; PLAC4
Asterisk 613771 TRANSMEMBRANE PROTEIN 205; TMEM205
Asterisk 613772 KELCH-LIKE 14; KLHL14 PROTEIN INTERACTOR OF TORSIN A; PRINTOR;; KIAA1384
Asterisk 613773 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 9B; IGSF9B KIAA1030
Asterisk 613774 CALMODULIN-REGULATED SPECTRIN-ASSOCIATED PROTEIN 1; CAMSAP1
Asterisk 613775 CALMODULIN-REGULATED SPECTRIN-ASSOCIATED PROTEIN 2; CAMSAP2 CALMODULIN-REGULATED SPECTRIN-ASSOCIATED PROTEIN 1-LIKE 1; CAMSAP1L1;; CAMSAP1-LIKE 1;; KIAA1078
Number Sign 613776 CHROMOSOME 17p13.1 DELETION SYNDROME
Asterisk 613777 FAD-DEPENDENT OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 2; FOXRED2 ENDOPLASMIC RETICULUM FLAVOPROTEIN ASSOCIATED WITH DEGRADATION; ERFAD
Number Sign 613778 MACULAR DEGENERATION, AGE-RELATED, 8; ARMD8
Number Sign 613779 COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D C3 DEFICIENCY, AUTOSOMAL RECESSIVE
Number Sign 613780 AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7 AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
Asterisk 613781 COILED-COIL DOMAIN-CONTAINING PROTEIN 125; CCDC125 KENAE
Asterisk 613782 METHIONINE SULFOXIDE REDUCTASE B2; MSRB2 CBS1
Number Sign 613783 COMPLEMENT COMPONENT C1s DEFICIENCY; C1SD C1s DEFICIENCY
Number Sign 613784 MACULAR DEGENERATION, AGE-RELATED, 12; ARMD12
Asterisk 613785 COMPLEMENT COMPONENT 1, r SUBCOMPONENT; C1R COMPLEMENT COMPONENT C1r
Asterisk 613786 MICRO RNA 148A; MIR148A miRNA148A;; MIRN148A
Asterisk 613787 MICRO RNA 148B; MIR148B miRNA148B;; MIRN148B
Asterisk 613788 MICRO RNA 152; MIR152 miRNA152;; MIRN152
Number Sign 613789 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2 C8 DEFICIENCY, TYPE II;; COMPLEMENT COMPONENT 8B DEFICIENCY;; C8 BETA DEFICIENCY;; C8B DEFICIENCY
Number Sign 613790 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1 C8 DEFICIENCY, TYPE I;; C8 ALPHA-GAMMA DEFICIENCY;; C8AG DEFICIENCY
Number Sign 613791 MASP2 DEFICIENCY LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2; LCAPD2
Number Sign 613792 CHROMOSOME 3pter-p25 DELETION SYNDROME 3p- SYNDROME
Number Sign 613793 BLOOD GROUP, CROMER SYSTEM; CROM CROMER BLOOD GROUP SYSTEM
Number Sign 613794 RETINITIS PIGMENTOSA 20; RP20
Number Sign 613795 LOEYS-DIETZ SYNDROME 3; LDS3 ANEURYSMS-OSTEOARTHRITIS SYNDROME;; LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS;; LOEYS-DIETZ SYNDROME, TYPE 1C, FORMERLY; LDS1C, FORMERLY
Number Sign 613796 IMMUNODEFICIENCY 31B; IMD31B IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE;; STAT1 DEFICIENCY, AUTOSOMAL RECESSIVE
Asterisk 613797 PROTEASE, SERINE, 33; PRSS33 EOS
Asterisk 613798 COILED-COIL DOMAIN-CONTAINING PROTEIN 39; CCDC39
Asterisk 613799 COILED-COIL DOMAIN-CONTAINING PROTEIN 40; CCDC40 KIAA1640
Number Sign 613800 MEIER-GORLIN SYNDROME 2; MGORS2
Number Sign 613801 RETINITIS PIGMENTOSA 40; RP40
Asterisk 613802 MALECTIN; MLEC KIAA0152
Number Sign 613803 MEIER-GORLIN SYNDROME 3; MGORS3
Number Sign 613804 MEIER-GORLIN SYNDROME 4; MGORS4
Number Sign 613805 MEIER-GORLIN SYNDROME 5; MGORS5
Percent 613806 CHOLANGITIS, PRIMARY SCLEROSING; PSC
Number Sign 613807 CILIARY DYSKINESIA, PRIMARY, 14; CILD14 CILIARY DYSKINESIA, PRIMARY, 14, WITH OR WITHOUT SITUS INVERSUS
Number Sign 613808 CILIARY DYSKINESIA, PRIMARY, 15; CILD15 CILIARY DYSKINESIA, PRIMARY, 15, WITH OR WITHOUT SITUS INVERSUS
Number Sign 613809 RETINITIS PIGMENTOSA 39; RP39
Number Sign 613810 RETINITIS PIGMENTOSA 43; RP43
Number Sign 613811 PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE; PCCA
Number Sign 613812 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3
Asterisk 613813 MOUSE DOUBLE MINUTE 1 HOMOLOG; MDM1
Asterisk 613814 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 19; TTC19
Asterisk 613815 CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2 CYTOCHROME P450, SUBFAMILY XXIA, POLYPEPTIDE 2;; CYTOCHROME P450, SUBFAMILY XXI; CYP21;; STEROID CYTOCHROME P450 21-HYDROXYLASE; P450C21;; 21-HYDROXYLASE B; CYP21B;; CA21H CYTOCHROME P450, SUBFAMILY XXIA, POLYPEPTIDE 1 PSEUDOGENE, INCLUDED; CYP21A1P, INCLUDED;; CYP21P, INCLUDED; CYP21A, INCLUDED
Asterisk 613816 UBIQUITIN PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 7; UBR7
Asterisk 613817 SPERMATOGENESIS-ASSOCIATED SERINE-RICH PROTEIN 2-LIKE; SPATS2L SPATS2-LIKE;; STRESS GRANULE AND NUCLEOLAR PROTEIN; SGNP
Number Sign 613818 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P; LGMD2P;; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED
Number Sign 613819 SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4 ASPHYXIATING THORACIC DYSTROPHY 4; ATD4
Number Sign 613820 NEPHRONOPHTHISIS 12; NPHP12 JOUBERT SYNDROME 11, INCLUDED; JBTS11, INCLUDED
Asterisk 613821 PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, BETA; PPP3R2 PROTEIN PHOSPHATASE 2B, REGULATORY SUBUNIT BETA-2;; PPP3R1-LIKE: PPP3RL;; CALCINEURIN B-LIKE PROTEIN; CBLP
Asterisk 613822 PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 2; PPP4R2 PP4R2
Number Sign 613823 SECKEL SYNDROME 5; SCKL5
Number Sign 613824 NEPHRONOPHTHISIS 9; NPHP9
Number Sign 613825 COMPLEMENT COMPONENT 9 DEFICIENCY; C9D C9 DEFICIENCY
Number Sign 613826 LEBER CONGENITAL AMAUROSIS 6; LCA6
Number Sign 613827 RETINITIS PIGMENTOSA 48; RP48
Percent 613828 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8; GEFSP8 GEFS+, TYPE 8; GEFS+8
Number Sign 613829 LEBER CONGENITAL AMAUROSIS 7; LCA7
Number Sign 613830 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D CSNB, COMPLETE, AUTOSOMAL RECESSIVE
Asterisk 613831 UBIQUITIN PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 3; UBR3
Caret 613832 MOVED TO {607459}
Asterisk 613833 KAT8 REGULATORY NSL COMPLEX SUBUNIT 1-LIKE PROTEIN; KANSL1L KANSL1-LIKE PROTEIN;; CHROMOSOME 2 OPEN READING FRAME 67; C2ORF67;; MSL1V2
Number Sign 613834 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY
Number Sign 613835 LEBER CONGENITAL AMAUROSIS 8; LCA8
Percent 613836 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 5; ADIPQTL5
Number Sign 613837 LEBER CONGENITAL AMAUROSIS 11; LCA11
Number Sign 613838 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16; CMH16
Number Sign 613839 MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY DHFR DEFICIENCY
Asterisk 613840 ZINC FINGER PROTEIN 304; ZNF304
Asterisk 613841 UBINUCLEIN 2; UBN2
Asterisk 613842 GDNF-INDUCIBLE ZINC FINGER PROTEIN 1; GZF1 ZINC FINGER PROTEIN 336; ZNF336
Number Sign 613843 LEBER CONGENITAL AMAUROSIS 15; LCA15 RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED, INCLUDED
Asterisk 613844 UBIQUINOL-CYTOCHROME C REDUCTASE HINGE PROTEIN; UQCRH HINGE PROTEIN, MITOCHONDRIAL UQCRH/EWS FUSION GENE, INCLUDED;; UQCRH/ZSG FUSION GENE, INCLUDED
Number Sign 613845 HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS HUPRA SYNDROME
Asterisk 613846 TECTONIC FAMILY, MEMBER 2; TCTN2 TECTONIC 2; TECT2
Asterisk 613847 TECTONIC FAMILY, MEMBER 3; TCTN3 TECTONIC 3; TECT3;; CHROMOSOME 10 OPEN READING FRAME 61; C10ORF61
Number Sign 613848 OSTEOGENESIS IMPERFECTA, TYPE X; OI10 OI, TYPE X
Number Sign 613849 OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 OI, TYPE XII
Number Sign 613850 INOSINE TRIPHOSPHATASE DEFICIENCY INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY
Asterisk 613851 PROLINE-RICH MEMBRANE ANCHOR 1; PRIMA1 PRIMA
Number Sign 613852 FUCOSYLTRANSFERASE 6 DEFICIENCY
Caret 613853 MOVED TO 605376
Number Sign 613854 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3; DTGA3
Number Sign 613855 EPISODIC ATAXIA, TYPE 5; EA5
Number Sign 613856 ACHROMATOPSIA 4; ACHM4
Percent 613857 OROFACIAL CLEFT 13; OFC13
Asterisk 613858 PROTEASE, SERINE, 56; PRSS56
Asterisk 613859 UROMODULIN-LIKE 1; UMODL1
Number Sign 613860 FICOLIN 3 DEFICIENCY FCN3 DEFICIENCY;; LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3; LCAPD3
Number Sign 613861 RETINITIS PIGMENTOSA 59; RP59 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ibb, INCLUDED; CDG1BB, INCLUDED
Number Sign 613862 RETINITIS PIGMENTOSA 38; RP38 ROD-CONE DYSTROPHY, CHILDHOOD-ONSET
Number Sign 613863 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7 GEFS+, TYPE 7; GEFS+7 FEBRILE SEIZURES, FAMILIAL, 3B, INCLUDED; FEB3B, INCLUDED
Asterisk 613864 ZINC FINGER PROTEIN 317; ZNF317 KIAA1588
Number Sign 613865 DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61
Asterisk 613866 HRAS-LIKE SUPPRESSOR 2; HRASLS2
Asterisk 613867 PHOSPHOLIPASE A2, GROUP XVI; PLA2G16 HRAS-LIKE SUPPRESSOR 3; HRASLS3; HRSL3;; HREV107;; HREV107-1
Asterisk 613868 SOLUTE CARRIER FAMILY 14 (UREA TRANSPORTER), MEMBER 1; SLC14A1 UREA TRANSPORTER, ERYTHROCYTE; UTE;; UT11;; UTB, MOUSE, HOMOLOG OF; UTB
Number Sign 613869 MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
Number Sign 613870 HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD
Asterisk 613871 FUMARYLACETOACETATE HYDROLASE; FAH FUMARYLACETOACETASE
Asterisk 613872 COAGULATION FACTOR X; F10
Number Sign 613873 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17
Number Sign 613874 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18
Number Sign 613875 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19; CMH19
Number Sign 613876 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20; CMH20
Number Sign 613877 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4; FPLD4 LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS
Asterisk 613878 COAGULATION FACTOR VII; F7 FACTOR VII
Asterisk 613879 THYROTROPIN-RELEASING HORMONE; TRH
Asterisk 613880 BROMO-ADJACENT HOMOLOGY DOMAIN-CONTAINING PROTEIN 1; BAHD1 BAH DOMAIN-CONTAINING PROTEIN 1;; KIAA0945
Number Sign 613881 CARDIOMYOPATHY, DILATED, 1HH; CMD1HH
Number Sign 613882 HYPOMAGNESEMIA 6, RENAL; HOMG6
Asterisk 613883 KELL BLOOD GROUP METALLOENDOPEPTIDASE; KEL KELL BLOOD GROUP GLYCOPROTEIN;; KELL BLOOD GROUP ANTIGEN
Number Sign 613884 CHROMOSOME 13q14 DELETION SYNDROME CHROMOSOME 13q DELETION SYNDROME
Number Sign 613885 MECKEL SYNDROME, TYPE 8; MKS8
Number Sign 613886 OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD
Number Sign 613887 CATARACT 36; CTRCT36 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 4; CATC4
Asterisk 613888 RAS HOMOLOG GENE FAMILY, MEMBER T1; RHOT1 MITOCHONDRIAL RHO 1; MIRO1;; ARHT1
Asterisk 613889 RAS HOMOLOG GENE FAMILY, MEMBER T2; RHOT2 MITOCHONDRIAL RHO 2; MIRO2;; ARHT2
Asterisk 613890 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2; HSD3B2 3-BETA-HYDROXYSTEROID DEHYDROGENASE/DELTA-ISOMERASE, TYPE II;; 3-BETA-HSD, ADRENAL AND GONADAL TYPE
Asterisk 613891 URIDINE MONOPHOSPHATE SYNTHETASE; UMPS OROTATE PHOSPHORIBOSYLTRANSFERASE; OPRT;; OROTIDYLIC DECARBOXYLASE; ODC
Asterisk 613892 DPY19-LIKE 1; DPY19L1 KIAA0877
Asterisk 613893 DPY19-LIKE 2; DPY19L2
Asterisk 613894 DPY19-LIKE 3; DPY19L3
Asterisk 613895 DPY19-LIKE 4; DPY19L4
Asterisk 613896 BISPHOSPHOGLYCERATE MUTASE; BPGM 2,3-BISPHOSPHOGLYCERATE PHOSPHATASE;; 2,3-BPG PHOSPHATASE;; 2,3-DIPHOSPHOGLYCERATE MUTASE; DPGM
Asterisk 613897 FANCF GENE; FANCF
Asterisk 613898 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE; HMGCL HMG-CoA LYASE;; HL
Asterisk 613899 FANCC GENE; FANCC FAC; FACC
Asterisk 613900 TRANSGLUTAMINASE 6; TGM6 TG6;; TRANSGLUTAMINASE Y; TGY
Asterisk 613901 RNA 2-PRIME,3-PRIME CYCLIC PHOSPHATE AND 5-PRIME-OH LIGASE; RTCB CHROMOSOME 22 OPEN READING FRAME 28; C22ORF28;; HEMATOPOIETIC STEM/PROGENITOR CELL-EXPRESSED GENE 117; HSPC117
Asterisk 613902 ZINC FINGER PROTEIN 503; ZNF503 NOCA-LIKE ZINC FINGER PROTEIN 1; NOLZ1;; NLZ2;; ZINC FINGER ELBOW-RELATED PROLINE DOMAIN PROTEIN 2; ZEPPO2; ZPO2
Asterisk 613903 ZINC FINGER PROTEIN 540; ZNF540
Asterisk 613904 ZINC FINGER PROTEIN 569; ZNF569
Asterisk 613905 ZINC FINGER PROTEIN 606; ZNF606 ZNF328;; KIAA1852
Asterisk 613906 ZINC FINGER PROTEIN 641; ZNF641
Asterisk 613907 ZINC FINGER PROTEIN 652; ZNF652 KIAA0924
Number Sign 613908 SPINOCEREBELLAR ATAXIA 35; SCA35
Percent 613909 SPINOCEREBELLAR ATAXIA 32; SCA32
Asterisk 613910 ZINC FINGER PROTEIN 480; ZNF480
Asterisk 613911 ZINC FINGER PROTEIN 496; ZNF496 NSD1-INTERACTING ZINC FINGER PROTEIN 1; NIZP1;; ZFP496
Number Sign 613912 COMPLEMENT FACTOR D DEFICIENCY; CFDD FACTOR D DEFICIENCY
Percent 613913 LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3, WITH OR WITHOUT GLOMERULONEPHRITIS; APLDC3 LIPODYSTROPHY, PARTIAL, ACQUIRED, ASSOCIATED WITH C3 NEPHRITIC FACTOR
Asterisk 613914 ZINC FINGER PROTEIN 746; ZNF746 PARKIN-INTERACTING SUBSTRATE; PARIS
Asterisk 613915 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 42: ZBTB42 ZNF925
Number Sign 613916 DEAFNESS, AUTOSOMAL RECESSIVE 89; DFNB89
Asterisk 613917 MUCIN 22; MUC22 PANBRONCHIOLITIS-RELATED MUCIN-LIKE 1; PBMUCL1
Asterisk 613918 HLA COMPLEX GROUP 22; HCG22 PANBRONCHIOLITIS-RELATED MUCIN-LIKE 2; PBMUCL2
Asterisk 613919 KINESIN FAMILY MEMBER 6; KIF6
Asterisk 613920 CYTOCHROME C OXIDASE ASSEMBLY FACTOR 5; COA5 CHROMOSOME 2 OPEN READING FRAME 64; C2ORF64;; PET191, S. CEREVISIAE, HOMOLOG OF; PET191
Asterisk 613921 LIPASE FAMILY, MEMBER J; LIPJ LIPASE-LIKE ABHYDROLASE DOMAIN-CONTAINING PROTEIN 1; LIPL1
Asterisk 613922 LIPASE FAMILY, MEMBER K; LIPK LIPASE-LIKE ABHYDROLASE DOMAIN-CONTAINING PROTEIN 2; LIPL2
Asterisk 613923 LIPASE FAMILY, MEMBER M; LIPM LIPASE-LIKE ABHYDROLASE DOMAIN-CONTAINING PROTEIN 3; LIPL3
Asterisk 613924 LIPASE FAMILY, MEMBER N; LIPN LIPASE-LIKE ABHYDROLASE DOMAIN-CONTAINING PROTEIN 4; LIPL4
Number Sign 613925 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A
Number Sign 613926 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B
Asterisk 613927 COMPLEMENT COMPONENT 2; C2
Asterisk 613928 DIFFUSE PANBRONCHIOLITIS CRITICAL REGION GENE 1; DPCR1 CHROMOSOME 6 OPEN READING FRAME 37; C6ORF37
Asterisk 613929 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 4; SPINK4 PEC60
Percent 613930 ALOPECIA-MENTAL RETARDATION SYNDROME 3; APMR3
Asterisk 613931 TARGET OF EGR1; TOE1
Asterisk 613932 TNNI3-INTERACTING KINASE; TNNI3K CARDIAC TROPONIN I-INTERACTING KINASE
Percent 613933 ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD ACACA DEFICIENCY;; ACC1 DEFICIENCY
Asterisk 613934 TRANSMEMBRANE PROTEIN 25; TMEM25
Asterisk 613935 TRANSMEMBRANE PROTEIN 74; TMEM74
Asterisk 613936 TRANSMEMBRANE PROTEIN 102; TMEM102 COMMON BETA CHAIN-ASSOCIATED PROTEIN; CBAP
Asterisk 613937 TRANSMEMBRANE PROTEIN 184C; TMEM184C TRANSMEMBRANE PROTEIN 34; TMEM34
Percent 613938 PARASOMNIA, SLEEPWALKING TYPE; PSMNSW PARASOMNIA, SLEEP TERRORS TYPE, INCLUDED; PSMNST, INCLUDED
Asterisk 613939 SPERMATOGENESIS-ASSOCIATED PROTEIN 20; SPATA20 SPERM-SPECIFIC PROTEIN 411; SSP411
Asterisk 613940 SPERMATOGENESIS-ASSOCIATED PROTEIN 5; SPATA5 SPERMATOGENESIS-ASSOCIATED FACTOR; SPAF
Asterisk 613941 SERINE PROTEASE INHIBITOR, KUNITZ-TYPE, 3; SPINT3
Asterisk 613942 SAD1 AND UNC84 DOMAIN-CONTAINING PROTEIN 5; SUN5 SUN DOMAIN-CONTAINING PROTEIN 5;; TESTIS- AND SPERMATOGENESIS-RELATED GENE 4; TSARG4;; SPERM-ASSOCIATED ANTIGEN 4-LIKE PROTEIN; SPAG4L;; SPAG4-LIKE PROTEIN
Number Sign 613943 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8; ARCI8 LAMELLAR ICHTHYOSIS, LATE-ONSET;; ICHTHYOSIS, LAMELLAR, 4, FORMERLY; LI4, FORMERLY
Percent 613944 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2; IGAN2
Asterisk 613945 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 5, BETA; DNAJC5B CYSTEINE STRING PROTEIN, BETA;; CSP-BETA
Asterisk 613946 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 5, GAMMA; DNAJC5G CYSTEINE STRING PROTEIN, GAMMA;; CSP-GAMMA
Asterisk 613947 SPERMATOGENESIS-ASSOCIATED PROTEIN 6; SPATA6 SPERMATOGENESIS-RELATED FACTOR 1, RAT, HOMOLOG OF; SRF1;; HASH, RAT, HOMOLOG OF; HASH
Asterisk 613948 SPERMATOGENESIS-ASSOCIATED PROTEIN 8; SPATA8 SPERMATOGENESIS-RELATED GENE 8; SRG8
Number Sign 613949 OKT4 EPITOPE DEFICIENCY T4 EPITOPE DEFICIENCY
Number Sign 613950 SCHIZOPHRENIA 15; SCZD15 SCHIZOPHRENIA 15 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED
Number Sign 613951 FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP
Asterisk 613952 FAMILY WITH SEQUENCE SIMILARITY 46, MEMBER C; FAM46C
Number Sign 613953 IMMUNODEFICIENCY 51; IMD51 CANDIDIASIS, FAMILIAL, 5, FORMERLY; CANDF5, FORMERLY
Number Sign 613954 AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS14
Number Sign 613955 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2; PLCA2
Number Sign 613956 CANDIDIASIS, FAMILIAL, 6; CANDF6 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT
Number Sign 613957 SPERMATOGENIC FAILURE 8; SPGF8
Number Sign 613958 SPERMATOGENIC FAILURE 9; SPGF9 GLOBOZOOSPERMIA, COMPLETE;; GLOBOZOOSPERMIA, TOTAL
Number Sign 613959 SCHIZOPHRENIA 16; SCZD16 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 7q36.3-RELATED;; CHROMOSOME 7q36.3 DUPLICATION SYNDROME, 362-KB
Number Sign 613960 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III; CDG3 CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III;; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF4 DEFICIENCY
Asterisk 613961 TASTE RECEPTOR, TYPE 2, MEMBER 19; TAS2R19 T2R19;; T2R48
Asterisk 613962 TASTE RECEPTOR, TYPE 2, MEMBER 20; TAS2R20 T2R56
Asterisk 613963 TASTE RECEPTOR, TYPE 2, MEMBER 30; TAS2R30 T2R30;; T2R47
Asterisk 613964 TASTE RECEPTOR, TYPE 2, MEMBER 40; TAS2R40 T2R40
Asterisk 613965 TASTE RECEPTOR, TYPE 2, MEMBER 41; TAS2R41 T2R59
Asterisk 613966 TASTE RECEPTOR, TYPE 2, MEMBER 42; TAS2R42 T2R42;; T2R55
Asterisk 613967 TASTE RECEPTOR, TYPE 2, MEMBER 45; TAS2R45 T2R45
Asterisk 613968 TASTE RECEPTOR, TYPE 2, MEMBER 60; TAS2R60 T2R60
Percent 613969 MYOPIA 19, AUTOSOMAL DOMINANT; MYP19
Number Sign 613970 MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6
Caret 613971 MOVED TO 245570
Number Sign 613972 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6
Asterisk 613973 CYCLIC GMP-AMP SYNTHASE; CGAS MAB21 DOMAIN-CONTAINING PROTEIN 1; MB21D1;; CHROMOSOME 6 OPEN READING FRAME 150; C6ORF150
Asterisk 613974 DEAD BOX POLYPEPTIDE 60; DDX60
Asterisk 613975 INTERFERON-INDUCED PROTEIN 44-LIKE; IFI44L IFI44-LIKE
Asterisk 613976 FANCE GENE; FANCE
Number Sign 613977 CYANOSIS, TRANSIENT NEONATAL; TNCY
Number Sign 613978 HEMOGLOBIN H DISEASE; HBH ALPHA-THALASSEMIA, HEMOGLOBIN H TYPE;; HEMOGLOBIN H DISEASE, DELETIONAL HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
Asterisk 613979 PRECURSOR mRNA-PROCESSING FACTOR 6, S. CEREVISIAE, HOMOLOG OF; PRPF6 PRP6;; ANDROGEN RECEPTOR N-TERMINAL DOMAIN-TRANSACTIVATING PROTEIN 1; ANT1;; TOM;; CHROMOSOME 20 OPEN READING FRAME 14; C20ORF14
Number Sign 613980 ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9
Number Sign 613981 HYPOTRICHOSIS 3; HYPT3 HYPOTRICHOSIS SIMPLEX OF THE SCALP 2; HTSS2
Number Sign 613982 OSTEOGENESIS IMPERFECTA, TYPE VI; OI6
Number Sign 613983 RETINITIS PIGMENTOSA 60; RP60
Asterisk 613984 FANCD2 GENE; FANCD2
Number Sign 613985 BETA-THALASSEMIA
Number Sign 613986 PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6
Number Sign 613987 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2
Number Sign 613988 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3
Number Sign 613989 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; DKCB4, INCLUDED
Number Sign 613990 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3
Asterisk 613991 CDC42-BINDING PROTEIN KINASE, GAMMA; CDC42BPG MYOTONIC DYSTROPHY KINASE-RELATED CDC42-BINDING KINASE, GAMMA; MRCKG;; MRCK-GAMMA
Asterisk 613992 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, DELTA; PPP2R2D B55-DELTA;; B-DELTA
Asterisk 613993 MYOSIN, LIGHT CHAIN 7, REGULATORY; MYL7 MYOSIN LIGHT CHAIN 2, ATRIAL; MYL2A;; MLC2A;; MYLC2A
Asterisk 613994 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 4; NBPF4
Asterisk 613995 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 5; NBPF5
Asterisk 613996 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 6; NBPF6
Asterisk 613997 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 7; NBPF7
Asterisk 613998 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 8; NBPF8
Asterisk 613999 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 9; NBPF9
Asterisk 614000 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 10; NBPF10
Asterisk 614001 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 11; NBPF11
Caret 614002 MOVED TO 608607
Asterisk 614003 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 14; NBPF14
Caret 614004 MOVED TO 610414
Asterisk 614005 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 16; NBPF16
Asterisk 614006 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 19; NBPF19
Asterisk 614007 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 20; NBPF20
Number Sign 614008 NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS; PSCOO
Number Sign 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13 BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR
Asterisk 614010 INOSITOL MONOPHOSPHATASE DOMAIN-CONTAINING PROTEIN 1; IMPAD1 MYOINOSITOL MONOPHOSPHATASE A3; IMPA3;; GOLGI 3-PRIME PHOSPHOADENOSINE 5-PRIME PHOSPHATE 3-PRIME PHOSPHATASE; GPAPP;; LITHIUM-INHIBITED PHOSPHOMONOESTERASE
Asterisk 614011 ENDOGENOUS RETROVIRUS GROUP K, MEMBER 4; ERVK-4 HUMAN ENDOGENOUS RETROVIRUS K I;; HERV-KI
Asterisk 614012 ENDOGENOUS RETROVIRUS GROUP K, MEMBER 5; ERVK-5 HUMAN ENDOGENOUS RETROVIRUS K II;; HERV-KII
Asterisk 614013 ENDOGENOUS RETROVIRUS GROUP K, MEMBER 7; ERVK-7 HUMAN ENDOGENOUS RETROVIRUS K III;; HERV-KIII;; HERV-K102
Asterisk 614014 RIBONUCLEASE, RNase A FAMILY, 9; RNASE9
Asterisk 614015 DIACYLGLYCEROL LIPASE, ALPHA; DAGLA DAGL-ALPHA;; DGL-ALPHA;; DGLA;; KIAA0659
Asterisk 614016 DIACYLGLYCEROL LIPASE, BETA; DAGLB DAGL-BETA;; DGL-BETA;; DGLB
Number Sign 614017 CILIARY DYSKINESIA, PRIMARY, 16; CILD16 CILIARY DYSKINESIA, PRIMARY, 16, WITH OR WITHOUT SITUS INVERSUS
Number Sign 614018 EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6
Number Sign 614019 LISSENCEPHALY 4; LIS4 LISSENCEPHALY 4 WITH MICROCEPHALY
Number Sign 614020 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14; MRT14
Number Sign 614021 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3
Number Sign 614022 ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10
Number Sign 614023 PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD
Number Sign 614024 PROTEIN Z DEFICIENCY
Number Sign 614025 HEPATIC LIPASE DEFICIENCY LIPC DEFICIENCY;; HL DEFICIENCY
Asterisk 614026 KINESIN FAMILY MEMBER 26B; KIF26B
Asterisk 614027 INSULINOMA-ASSOCIATED 2; INSM2 INSULINOMA-ASSOCIATED GENE 6; IA6
Number Sign 614028 APOLIPOPROTEIN C-III DEFICIENCY HYPERALPHALIPOPROTEINEMIA 2; HALP2
Asterisk 614029 SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER A; SPDYA SPEEDY, XENOPUS, HOMOLOG OF, A; SPDYA;; SPY1;; RAPID INDUCER OF G2/M PROGRESSION IN OOCYTES, XENOPUS, HOMOLOG OF, A;; RINGO A
Asterisk 614030 SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER C; SPDYC SPEEDY, XENOPUS, HOMOLOG OF, C;; RAPID INDUCER OF G2/M PROGRESSION IN OOCYTES, XENOPUS, HOMOLOG OF, C;; RINGO C;; SPEEDY B4
Asterisk 614031 RAN-BINDING PROTEIN 10; RANBP10 KIAA1464
Asterisk 614032 TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 4; TOX4 LANGERHANS CELL PROTEIN 1; LCP1;; KIAA0737
NULL 614033 HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY GLYOXALASE II DEFICIENCY
Number Sign 614034 HEME OXYGENASE 1 DEFICIENCY; HMOX1D
Number Sign 614035 DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29
NULL 614036 ALPHA-2-MACROGLOBULIN DEFICIENCY; A2MD
NULL 614037 LEUKOTRIENE C4 SYNTHASE DEFICIENCY LTC4 SYNTHASE DEFICIENCY
Number Sign 614038 LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA EMBERGER SYNDROME
Number Sign 614039 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CDCBM1
Asterisk 614040 ZINC FINGER PROTEIN 467; ZNF467 EZI, MOUSE, HOMOLOG OF; EZI;; ZFP467
Asterisk 614041 RB1 GENE; RB1 p105-Rb
Number Sign 614042 MOYAMOYA DISEASE 5; MYMY5
Asterisk 614043 LEUCINE-RICH REPEAT IN FLII-INTERACTING PROTEIN 2; LRRFIP2
NULL 614044 TRYPSINOGEN DEFICIENCY
Asterisk 614045 FAMILY WITH SEQUENCE SIMILARITY 129, MEMBER B; FAM129B MELANOMA INVASION BY ERK; MINERVA
Asterisk 614046 ARGININE- AND GLUTAMATE-RICH PROTEIN 1; ARGLU1
Asterisk 614047 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 2-LIKE, NADP(+)-DEPENDENT; MTHFD2L MTHFD2-LIKE
Asterisk 614048 KIAA1324-LIKE; KIAA1324L EIG121-LIKE; EIG121L
Number Sign 614049 ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11
Number Sign 614050 ATRIAL FIBRILLATION, FAMILIAL, 12; ATFB12
Caret 614051 MOVED TO 212066
Number Sign 614052 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE;; ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY
Number Sign 614053 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5E TYPE
Asterisk 614054 RIBOSOMAL MODIFICATION PROTEIN RimK-LIKE FAMILY, MEMBER B; RIMKLB N-ACETYLASPARTYL-GLUTAMATE SYNTHETASE; NAAGS;; NAAG SYNTHETASE;; KIAA1238
NULL 614055 ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D ACAT2 DEFICIENCY
Asterisk 614056 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 26; PPP1R26 KIAA0649 GENE; KIAA0649;; DRIM-INTERACTING PROTEIN
Asterisk 614057 MICRO RNA 409; MIR409 miRNA409;; MIRN409;; MIR409-5p MICRO RNA 409-3p, INCLUDED; MIR409-3p, INCLUDED
Asterisk 614058 KETOHEXOKINASE; KHK FRUCTOKINASE, HEPATIC
Asterisk 614059 MICRO RNA 338; MIR338 miRNA338;; MIRN338
Asterisk 614060 HOXA DISTAL TRANSCRIPT ANTISENSE RNA; HOTTIP HOXA TRANSCRIPT AT THE DISTAL TIP;; NONCODING RNA 213; NCRNA00213
Asterisk 614061 OLFACTOMEDIN 4; OLFM4 GCSF-STIMULATED CLONE 1; GC1;; GW112
Asterisk 614062 CDC42-BINDING PROTEIN KINASE, BETA; CDC42BPB CDC42BP-BETA;; MYOTONIC DYSTROPHY KINASE-RELATED CDC42-BINDING KINASE, BETA; MRCKB;; MRCK-BETA
Number Sign 614063 N-ACETYLASPARTATE DEFICIENCY; NACED NAA DEFICIENCY;; HYPOACETYLASPARTIA
Asterisk 614064 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 24; ZBTB24 POZ-, AT HOOK-, AND ZINC FINGER-CONTAINING PROTEIN 2; PATZ2;; ZINC FINGER PROTEIN 450; ZNF450;; KIAA0441
Number Sign 614065 MYOPATHY, DISTAL, 4; MPD4 WILLIAMS DISTAL MYOPATHY
Number Sign 614066 SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 5, FORMERLY; CPSQ5, FORMERLY
Number Sign 614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 6, FORMERLY; CPSQ6, FORMERLY
Asterisk 614068 INTRAFLAGELLAR TRANSPORT 43, CHLAMYDOMONAS, HOMOLOG OF; IFT43 CHROMOSOME 14 OPEN READING FRAME 179; C14ORF179
Number Sign 614069 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2
Number Sign 614070 PSORIASIS 13, SUSCEPTIBILITY TO; PSORS13
Asterisk 614071 MYOCARDIAL ZONULA ADHERENS PROTEIN; MYZAP MYOCARDIUM-ENRICHED ZO1-ASSOCIATED PROTEIN; MYOZAP;; GRINL1A COMPLEX LOCUS UPSTREAM GENE; GUP;; GUP1 GRINL1A COMPLEX LOCUS, INCLUDED; GCOM1, INCLUDED;; GRINL1A COMPLEX TRANSCRIPTION UNIT, INCLUDED;; MYZAP-POLR2M LOCUS, INCLUDED;; GRINL1A COMPLEX LOCUS COMBINED TRANSCRIPT 1, INCLUDED; GCOM1, INCLUDED
Number Sign 614072 HERMANSKY-PUDLAK SYNDROME 3; HPS3
Number Sign 614073 HERMANSKY-PUDLAK SYNDROME 4; HPS4
Number Sign 614074 HERMANSKY-PUDLAK SYNDROME 5; HPS5
Number Sign 614075 HERMANSKY-PUDLAK SYNDROME 6; HPS6
Number Sign 614076 HERMANSKY-PUDLAK SYNDROME 7; HPS7
Number Sign 614077 HERMANSKY-PUDLAK SYNDROME 8; HPS8
Number Sign 614078 CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE GPAPP DEFICIENCY
Number Sign 614079 ASPERGILLOSIS, SUSCEPTIBILITY TO
Number Sign 614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3; GPIBD3
Number Sign 614081 ANHAPTOGLOBINEMIA; AHP AHAPTOGLOBINEMIA HYPOHAPTOGLOBINEMIA, INCLUDED
Number Sign 614082 FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG
Number Sign 614083 FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL
Asterisk 614084 WEE1, S. POMBE, HOMOLOG OF, 2; WEE2 WEE1B
Asterisk 614085 RAD9-, RAD1-, AND HUS1-INTERACTING NUCLEAR ORPHAN 1; RHNO1 RHINO;; CHROMOSOME 12 OPEN READING FRAME 32; C12ORF32
Asterisk 614086 MULTICILIATE DIFFERENTIATION AND DNA SYNTHESIS-ASSOCIATED CELL CYCLE PROTEIN; MCIDAS IDAS;; MULTICILIN; MCI
Caret 614087 MOVED TO 227650 AND 609644
Asterisk 614088 INTRACELLULAR ADHESION MOLECULE 4; ICAM4 CD242 ANTIGEN; CD242;; LW GENE; LW
Number Sign 614089 ATRIAL SEPTAL DEFECT 3; ASD3
Number Sign 614090 SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO; SSS3
Number Sign 614091 SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 SHORT RIB-POLYDACTYLY SYNDROME, TYPE V; SRPS5
Asterisk 614092 RAB-INTERACTING LYSOSOMAL PROTEIN-LIKE 1; RILPL1 RILP-LIKE PROTEIN 1; RLP1;; GAPDH COMPETITOR OF SIAH PROTEIN ENHANCES LIFE; GOSPEL
Asterisk 614093 RAB-INTERACTING LYSOSOMAL PROTEIN-LIKE 2; RILPL2 RILP-LIKE PROTEIN 2; RLP2
Asterisk 614094 MARVEL DOMAIN-CONTAINING PROTEIN 3; MARVELD3
Asterisk 614095 PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2 PEPCK2
Number Sign 614096 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8 CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE
Number Sign 614097 ACATALASEMIA ACATALASIA;; CATALASE DEFICIENCY
Number Sign 614098 KEPPEN-LUBINSKY SYNDROME; KPLBS
Number Sign 614099 CRANIOECTODERMAL DYSPLASIA 3; CED3
Percent 614100 CUTIS LAXA, NEONATAL, WITH MARFANOID PHENOTYPE CUTIS LAXA-MARFANOID SYNDROME
Percent 614101 PLASMA FIBRONECTIN DEFICIENCY
Number Sign 614102 IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY; IGKCD KAPPA CHAIN DEFICIENCY
Percent 614103 LIPEDEMA
Number Sign 614104 MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7
Number Sign 614105 METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; MMSDHD MMSDH DEFICIENCY
Asterisk 614106 MUSCULAR LMNA-INTERACTING PROTEIN; MLIP CHROMOSOME 6 OPEN READING FRAME 142; C6ORF142
Asterisk 614107 KARYOPHERIN ALPHA-7; KPNA7 IMPORTIN ALPHA-8
Asterisk 614108 BPI FOLD-CONTAINING PROTEIN, FAMILY B, MEMBER 2; BPIFB2 BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 1; BPIL1;; BPI-LIKE 1;; RYSR
Asterisk 614109 BPI FOLD-CONTAINING PROTEIN, FAMILY C; BPIFC BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 2; BPIL2;; BPI-LIKE 2
Asterisk 614110 BPI FOLD-CONTAINING PROTEIN, FAMILY B, MEMBER 6; BPIFB6 BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3; BPIL3
Number Sign 614111 PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD
Asterisk 614112 MICRO RNA 320A; MIR320A miRNA320A;; MIRN320A
Number Sign 614113 MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2
Number Sign 614114 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2
Number Sign 614115 CORTICAL MALFORMATIONS, OCCIPITAL; OCCM
Number Sign 614116 NEUROPATHY, HEREDITARY SENSORY, TYPE IE; HSN1E HSN IE;; NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA
Asterisk 614117 EXOCYST COMPLEX COMPONENT 3-LIKE 1; EXOC3L1 EXOC3L
Asterisk 614118 TEASHIRT ZINC FINGER HOMEOBOX 2; TSHZ2
Asterisk 614119 TEASHIRT ZINC FINGER HOMEOBOX 3; TSHZ3 KIAA1474
Number Sign 614120 HYDROLETHALUS SYNDROME 2; HLS2
Asterisk 614121 POLY(A) POLYMERASE-ASSOCIATED DOMAIN-CONTAINING PROTEIN 4; PAPD4 GLD2;; TERMINAL URIDYLTRANSFERASE 2; TUT2
Number Sign 614122 CHITOTRIOSIDASE DEFICIENCY; CHITD
Asterisk 614123 TRANSMEMBRANE AND COILED-COIL DOMAINS PROTEIN 1; TMCO1
Asterisk 614124 GLYCEROPHOSPHOCHOLINE PHOSPHODIESTERASE GDE1, S. CEREVISIAE, HOMOLOG OF; GPCPD1 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 5; GDE5;; KIAA1434;; ENDOMETRIAL DIFFERENTIATION 3; ED13
Asterisk 614125 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 4; DPPA4 EMBRYONIC STEM CELL-ASSOCIATED TRANSCRIPT 15-1;; ECAT15-1
Asterisk 614126 MOLYBDENUM COFACTOR SULFURASE C-TERMINAL DOMAIN-CONTAINING PROTEIN 1; MOSC1 MOCO SULFURASE C-TERMINAL DOMAIN-CONTAINING PROTEIN 1;; MOSC DOMAIN-CONTAINING PROTEIN 1;; MITOCHONDRIAL AMIDOXIME-REDUCING COMPONENT 1; MARC1
Asterisk 614127 MOLYBDENUM COFACTOR SULFURASE C-TERMINAL DOMAIN-CONTAINING PROTEIN 2; MOSC2 MOCO SULFURASE C-TERMINAL DOMAIN-CONTAINING PROTEIN 2;; MOSC DOMAIN-CONTAINING PROTEIN 2;; MITOCHONDRIAL AMIDOXIME-REDUCING COMPONENT 2; MARC2
Number Sign 614128 LACTATE DEHYDROGENASE B DEFICIENCY; LDHBD
Number Sign 614129 PERRAULT SYNDROME 3; PRLTS3 DEAFNESS, AUTOSOMAL RECESSIVE 81, FORMERLY; DFNB81, FORMERLY
Asterisk 614130 ADENOSINE DEAMINASE DOMAIN-CONTAINING PROTEIN 1, TESTIS-SPECIFIC; ADAD1 TESTIS NUCLEAR RNA-BINDING PROTEIN; TENR
Number Sign 614131 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6
Caret 614132 MOVED TO 213980
Asterisk 614133 HEPACAM FAMILY MEMBER 2; HEPACAM2 MITOTIC KINETICS REGULATOR; MIKI
Number Sign 614134 STICKLER SYNDROME, TYPE IV; STL4
Number Sign 614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6
Asterisk 614136 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 8; TRAPPC8 KIAA1012
Asterisk 614137 BET3, S. CEREVISIAE, HOMOLOG-LIKE; BET3L TRAFFICKING PROTEIN PARTICLE COMPLEX 3-LIKE; TRAPPC3L
Asterisk 614138 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 11; TRAPPC11 CHROMOSOME 4 OPEN READING FRAME 41; C4ORF41
Asterisk 614139 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 12; TRAPPC12 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 15; TTC15
Asterisk 614140 SPERM ANTIGEN WITH CALPONIN HOMOLOGY AND COILED-COIL DOMAINS 1-LIKE; SPECC1L SPECC1-LIKE;; NY-REN-22;; KIAA0376
Asterisk 614141 TRIPARTITE MOTIF-CONTAINING PROTEIN 2; TRIM2 KIAA0517
Asterisk 614142 CUE DOMAIN-CONTAINING PROTEIN 2; CUEDC2
Asterisk 614143 IGF-LIKE FAMILY RECEPTOR 1; IGFLR1 TRANSMEMBRANE PROTEIN 149; TMEM149
Asterisk 614144 B9 DOMAIN-CONTAINING PROTEIN 1; B9D1 MKS1-RELATED PROTEIN 1; MKSR1
Asterisk 614145 COILED-COIL DOMAIN-CONTAINING PROTEIN 8; CCDC8
Asterisk 614146 CHROMOSOME 20 OPEN READING FRAME 194; C20ORF194
Asterisk 614147 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 8; C1QTNF8 CTRP8
Asterisk 614148 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 9B; C1QTNF9B CTRP9B
Percent 614149 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9; NDNC9 ANONYCHIA-ONYCHOLYSIS, ISOLATED;; ONYCHODYSTROPHY;; NAIL DYSPLASIA
Asterisk 614150 PROTEIN KINASE DOMAIN-CONTAINING PROTEIN, CYTOPLASMIC, MOUSE, HOMOLOG OF; PKDCC VERTEBRATE LONESOME KINASE; VLK;; SGK493
Asterisk 614151 RING FINGER AND WD REPEAT DOMAINS-CONTAINING PROTEIN 3; RFWD3
Number Sign 614152 DEAFNESS, AUTOSOMAL DOMINANT 64; DFNA64
Number Sign 614153 SPINOCEREBELLAR ATAXIA 36; SCA36
Asterisk 614154 NOP56, S. CEREVISIAE, HOMOLOG OF; NOP56
Asterisk 614155 MICRO RNA 1292; MIR1292 miRNA1292;; MIRN1292
Number Sign 614156 HYPERBILIVERDINEMIA; HBLVD GREEN JAUNDICE
Number Sign 614157 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10; NDNC10 CLAW-SHAPED NAILS;; ONYCHAUXIS, HYPONYCHIA, AND ONYCHOLYSIS
NULL 614158 BLEEDING DISORDER, PLATELET-TYPE, 14; BDPLT14 THROMBOXANE SYNTHETASE DEFICIENCY
Asterisk 614159 ZINC FINGER PROTEIN 644; ZNF644
Number Sign 614160 MUSCLE HYPERTROPHY; MSLHP
Asterisk 614161 PR DOMAIN-CONTAINING PROTEIN 5; PRDM5 PFM2
Number Sign 614162 IMMUNODEFICIENCY 31C; IMD31C CANDIDIASIS, FAMILIAL, 7; CANDF7;; CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT
Number Sign 614163 DELAYED SLEEP PHASE DISORDER, SUSCEPTIBILITY TO; DSPD
Percent 614164 GLUTATHIONE PEROXIDASE DEFICIENCY; GPXD
Number Sign 614165 PARAGANGLIOMAS 5; PGL5
Percent 614166 MYOPIA 20, AUTOSOMAL DOMINANT; MYP20
Number Sign 614167 MYOPIA 21, AUTOSOMAL DOMINANT; MYP21
Asterisk 614168 PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1 PEPCK1;; PEPCK, CYTOSOLIC; PEPCKC
Asterisk 614169 NEUROBEACHIN-LIKE 2; NBEAL2 KIAA0540
Number Sign 614170 BRITTLE CORNEA SYNDROME 2; BCS2
Number Sign 614171 HERMANSKY-PUDLAK SYNDROME 9; HPS9
Number Sign 614172 IMMUNODEFICIENCY 21; IMD21 DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY; DCML;; MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME; MONOMAC;; MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA;; COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS;; GATA2 DEFICIENCY
Number Sign 614173 JOUBERT SYNDROME 13; JBTS13
Asterisk 614174 MEIOSIS-EXPRESSED GENE 1, MOUSE, HOMOLOG OF; MEIG1
Number Sign 614175 MECKEL SYNDROME, TYPE 10; MKS10 JOUBERT SYNDROME 34, INCLUDED; JBTS34, INCLUDED
Asterisk 614176 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 28; ZFYVE28 LST2, C. ELEGANS, ORTHOLOG OF; LST2;; KIAA1643
Asterisk 614177 EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 4A; EFCAB4A CALCIUM RELEASE-ACTIVATED CALCIUM CHANNEL REGULATOR 2B; CRACR2B
Asterisk 614178 EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 4B; EFCAB4B CALCIUM RELEASE-ACTIVATED CALCIUM CHANNEL REGULATOR 2A; CRACR2A
Asterisk 614179 IMMUNOGLOBULIN SUPERFAMILY CONTAINING LEUCINE-RICH REPEAT 2; ISLR2 LEUCINE-RICH REPEAT DOMAIN- AND IMMUNOGLOBULIN DOMAIN-CONTAINING AXON EXTENSION PROTEIN; LINX;; KIAA1465
Number Sign 614180 RETINITIS PIGMENTOSA 61; RP61
Number Sign 614181 RETINITIS PIGMENTOSA 62; RP62
Asterisk 614182 HEART OF GLASS, ZEBRAFISH, HOMOLOG OF, 1; HEG1 KIAA1237
Asterisk 614183 DIS3 MITOTIC CONTROL, S. CEREVISIAE, HOMOLOG-LIKE; DIS3L DIS3-LIKE EXONUCLEASE 1; DIS3L1;; KIAA1955
Asterisk 614184 DIS3 MITOTIC CONTROL, S. CEREVISIAE, HOMOLOG-LIKE 2; DIS3L2
Number Sign 614185 GELEOPHYSIC DYSPLASIA 2; GPHYSD2
Number Sign 614186 LEBER CONGENITAL AMAUROSIS 16; LCA16
Percent 614187 HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS; HPPD
Number Sign 614188 CRANIOSYNOSTOSIS AND DENTAL ANOMALIES; CRSDA KREIBORG-PAKISTANI SYNDROME
Asterisk 614189 GOLGIN A7 FAMILY, MEMBER B; GOLGA7B CHROMOSOME 10 OPEN READING FRAME 132; C10ORF132
Number Sign 614190 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3; PPNAD3 CUSHING SYNDROME, ADRENAL, DUE TO PPNAD3
Asterisk 614191 DEP DOMAIN-CONTAINING PROTEIN 5; DEPDC5 KIAA0645
Number Sign 614192 MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME; MMFD
Number Sign 614193 TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; TFQTL2
Asterisk 614194 DEDICATOR OF CYTOKINESIS 6; DOCK6 KIAA1395
Number Sign 614195 CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS
Number Sign 614196 NEPHROTIC SYNDROME, TYPE 6; NPHS6
Asterisk 614197 MITOCHONDRIAL CALCIUM UNIPORTER; MCU COILED-COIL DOMAIN-CONTAINING PROTEIN 109A; CCDC109A
Number Sign 614198 MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16 MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE
Number Sign 614199 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5
Percent 614200 BLEEDING DISORDER, PLATELET-TYPE, 9; BDPLT9 GLYCOPROTEIN Ia DEFICIENCY;; GP Ia DEFICIENCY;; COLLAGEN PLATELET RECEPTOR DEFICIENCY
Number Sign 614201 BLEEDING DISORDER, PLATELET-TYPE, 11; BDPLT11 GLYCOPROTEIN VI DEFICIENCY;; GP VI DEFICIENCY
Number Sign 614202 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15
Number Sign 614203 PARKINSON DISEASE 17; PARK17
Number Sign 614204 PSORIASIS 14, PUSTULAR; PSORS14 INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY; DITRA;; GENERALIZED PUSTULAR PSORIASIS; GPP;; PSORP;; ACRODERMATITIS CONTINUA OF HALLOPEAU;; PALMOPLANTAR PUSTULOSIS
Number Sign 614205 THREE M SYNDROME 3; 3M3 3M SYNDROME 3
Asterisk 614206 CHROMATIN TARGET OF PRMT1; CHTOP CHROMOSOME 1 OPEN READING FRAME 77; C1OORF77;; SMALL PROTEIN RICH IN ARGININE AND GLYCINE; SRAG;; FRIEND OF PRMT1; FOP
Number Sign 614207 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17; MRT17;; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21; MRT21;; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8; GPIBD8
Percent 614208 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16; MRT16
Number Sign 614209 MECKEL SYNDROME, TYPE 9; MKS9
Percent 614210 LUNG CANCER SUSCEPTIBILITY 5; LNCR5
Percent 614211 DEAFNESS, AUTOSOMAL DOMINANT 33; DFNA33
Number Sign 614212 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4
Number Sign 614213 NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C
Asterisk 614214 KELCH-LIKE 6; KLHL6 FLJ00029
Asterisk 614215 ACTIVATING SIGNAL COINTEGRATOR 1 COMPLEX, SUBUNIT 1; ASCC1 ASC1 COMPLEX, 50-KD SUBUNIT;; p50
Asterisk 614216 ACTIVATING SIGNAL COINTEGRATOR 1 COMPLEX, SUBUNIT 2; ASCC2 ASC1 COMPLEX, 100-KD SUBUNIT;; p100
Asterisk 614217 ACTIVATING SIGNAL COINTEGRATOR 1 COMPLEX, SUBUNIT 3; ASCC3 ASC1 COMPLEX SUBUNIT, 200-KD SUBUNIT;; p200
Asterisk 614218 WD REPEAT-CONTAINING PROTEIN 81; WDR81 SORF2, C. ELEGANS, HOMOLOG OF; SORF2
Number Sign 614219 ADAMS-OLIVER SYNDROME 2; AOS2
Percent 614220 BILIARY CIRRHOSIS, PRIMARY, 4; PBC4
Percent 614221 BILIARY CIRRHOSIS, PRIMARY, 5; PBC5
Number Sign 614222 WARBURG MICRO SYNDROME 3; WARBM3 MICRO SYNDROME 3
Percent 614223 NARCOLEPSY 6, SUSCEPTIBILITY TO; NRCLP6
Number Sign 614224 RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS; RAMSVPS
Number Sign 614225 WARBURG MICRO SYNDROME 2; WARBM2 MICRO SYNDROME 2
Number Sign 614226 HOLOPROSENCEPHALY 11; HPE11
Percent 614227 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3; HNFJ3
Number Sign 614228 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O
Number Sign 614229 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11; SCAR11
Number Sign 614230 CHROMOSOME 8q21.11 DELETION SYNDROME
Number Sign 614231 MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS
Asterisk 614232 11-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II; HSD11B2 11-BETA-HSD;; HSD11, KIDNEY AND PLACENTAL TYPE; HSD11K;; HSD11, TYPE II
Percent 614233 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 1; FPH1 FPH
Asterisk 614234 PITCHFORK, MOUSE, HOMOLOG OF; PIFO CHROMOSOME 1 OPEN READING FRAME 88; C1ORF88
Asterisk 614235 PDZ DOMAIN-CONTAINING PROTEIN 8; PDZD8
Asterisk 614236 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 7; SLC38A7 SODIUM-COUPLED NEUTRAL AMINO ACID TRANSPORTER 7; SNAT7
Percent 614237 HYPOTRICHOSIS 9; HYPT9
Percent 614238 HYPOTRICHOSIS 10; HYPT10
Asterisk 614239 FAMILY WITH SEQUENCE SIMILARITY 109, MEMBER A; FAM109A SESQUIPEDALIAN, DROSOPHILA, HOMOLOG OF, 1; SES1;; INOSITOL POLYPHOSPHATE PHOSPHATASE-INTERACTING PROTEIN, 27-KD, A; IPIP27A
Asterisk 614240 FAMILY WITH SEQUENCE SIMILARITY 109, MEMBER B; FAM109B SESQUIPEDALIAN, DROSOPHILA, HOMOLOG OF, 2; SES2;; INOSITOL POLYPHOSPHATE PHOSPHATASE-INTERACTING PROTEIN, 27-KD, B; IPIP27B
Asterisk 614241 LYSOCARDIOLIPIN ACYLTRANSFERASE 1; LCLAT1 ACYL-CoA:LYSOCARDIOLIPIN ACYLTRANSFERASE 1; ALCAT1;; 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 8; AGPAT8
Asterisk 614242 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 9; SLC16A9 MONOCARBOXYLATE TRANSPORTER 9; MCT9
Asterisk 614243 5-OXOPROLINASE (ATP-HYDROLYZING); OPLAH 5-OXO-L-PROLINASE
Asterisk 614244 PYRIDOXAL-DEPENDENT DECARBOXYLASE DOMAIN-CONTAINING PROTEIN 1; PDXDC1 KIAA0251
Asterisk 614245 ACYL-CoA SYNTHETASE FAMILY, MEMBER 3; ACSF3
Asterisk 614246 N-ALPHA-ACETYLTRANSFERASE 60, NatF CATALYTIC SUBUNIT; NAA60 NAT15
Asterisk 614247 MICRO RNA 519D; MIR519D miRNA519D;; MIRN519D
Asterisk 614248 PSEUDOPODIUM-ENRICHED ATYPICAL KINASE 1 PEAK1;; SGK269;; NKF3 KINASE FAMILY MEMBER;; KIAA2002
Number Sign 614249 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18; MRT18
Number Sign 614250 NARCOLEPSY 7; NRCLP7
Number Sign 614251 PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18
Percent 614252 ANEURYSM, INTRACRANIAL BERRY, 11; ANIB11
Caret 614253 MOVED TO 204690
Number Sign 614254 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD MENTAL RETARDATION, AUTOSOMAL DOMINANT 8, FORMERLY; MRD8, FORMERLY
Number Sign 614255 MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9
Number Sign 614256 MENTAL RETARDATION, AUTOSOMAL DOMINANT 10; MRD10
Number Sign 614257 MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11
Asterisk 614258 POLYMERASE III, RNA, SUBUNIT A; POLR3A RNA POLYMERASE III, SUBUNIT C1; RPC1;; RNA POLYMERASE III, 155-KD SUBUNIT;; RPC155
Asterisk 614259 WD REPEAT-CONTAINING PROTEIN 65; WDR65
Asterisk 614260 CHROMOSOME 9 OPEN READING FRAME 72; C9ORF72
Number Sign 614261 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP
Number Sign 614262 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG
Asterisk 614263 BACE1 ANTISENSE RNA: BACE1AS
Asterisk 614264 RHO GTPase-ACTIVATING PROTEIN 30; ARHGAP30
Number Sign 614265 COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA
Number Sign 614266 BARRETT ESOPHAGUS BARRETT METAPLASIA ADENOCARCINOMA OF ESOPHAGUS, INCLUDED
Asterisk 614267 ACYL-CoA THIOESTERASE 6; ACOT6
Asterisk 614268 ADHESION G PROTEIN-COUPLED RECEPTOR F4; ADGRF4 G PROTEIN-COUPLED RECEPTOR 115; GPR115
Asterisk 614269 G PROTEIN-COUPLED RECEPTOR 153; GPR153
Asterisk 614270 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 65; CFAP65 COILED-COIL DOMAIN-CONTAINING PROTEIN 108; CCDC108
Asterisk 614271 COILED-COIL DOMAIN-CONTAINING PROTEIN 137; CCDC137
Asterisk 614272 FAST KINASE DOMAINS 5; FASTKD5 FAST KINASE DOMAIN-CONTAINING PROTEIN 5
Asterisk 614273 OLFACTORY RECEPTOR, FAMILY 4, SUBFAMILY C, MEMBER 46; OR4C46
Asterisk 614274 STRAWBERRY NOTCH, DROSOPHILA, HOMOLOG OF, 1; SBNO1
Asterisk 614275 ZINC FINGER PROTEIN 565; ZNF565
Asterisk 614276 PHOSPHOLIPASE C-LIKE 2; PLCL2 PHOSPHOLIPASE C-RELATED CATALYTICALLY INACTIVE PROTEIN 2; PRIP2;; KIAA1092
Asterisk 614277 UBIQUITIN-CONJUGATING ENZYME 2W; UBE2W UBC16, ARABIDOPSIS, HOMOLOG OF; UBC16
Number Sign 614278 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY; PAFAD
Number Sign 614279 46,XY SEX REVERSAL 8; SRXY8 MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE; TDD
Percent 614280 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 9; EJM9
Asterisk 614281 ENDOTHELIAL CELL ADHESION MOLECULE; ESAM ENDOTHELIAL CELL-SELECTIVE ADHESION MOLECULE
Asterisk 614282 STROMAL CELL-DERIVED FACTOR 4; SDF4 CALCIUM-BINDING PROTEIN, 45-KD; CAB45
Asterisk 614283 GLUCOCORTICOID-INDUCED TRANSCRIPT 1; GLCCI1 THYMOCYTE/SPERMATOCYTE SELECTION 1; TSSN1
Number Sign 614284 STICKLER SYNDROME, TYPE V; STL5
Asterisk 614285 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 9; C1QTNF9 CTRP9;; C1QTNF9A
Number Sign 614286 MYELODYSPLASTIC SYNDROME; MDS MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO, INCLUDED
Asterisk 614287 OFC1 CANDIDATE GENE 1; OFCC1 MRDS1
Asterisk 614288 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 11; ACAD11
Asterisk 614289 SUPPRESSOR OF LIN12-LIKE 2; SEL1L2 SEL1L-LIKE
Number Sign 614290 TETRASOMY 18p ISOCHROMOSOME 18p SYNDROME
Number Sign 614291 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4; BROVCA4
Number Sign 614292 MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION; MCVD
Number Sign 614293 HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2 HYDATIDIFORM MOLE, COMPLETE
Number Sign 614294 CHROMOSOME 15q25 DELETION SYNDROME
Asterisk 614295 BICAUDAL C, DROSOPHILA, HOMOLOG OF, 1; BICC1 BICC
Number Sign 614296 WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
Asterisk 614297 CHROMOSOME 19 OPEN READING FRAME 12; C19ORF12
Number Sign 614298 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4 MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION; MPAN
Number Sign 614299 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2
Number Sign 614300 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8, FORMERLY; MRT8, FORMERLY
Asterisk 614301 ATAXIN 1-LIKE; ATXN1L BROTHER OF ATAXIN 1; BOAT; BOAT1;; BROTHER OF ATXN1
Number Sign 614302 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7
Number Sign 614303 EDICT SYNDROME; EDICT ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME;; KERATOCONUS WITH CATARACT; KTCNCT;; KERATOCONUS, FAMILIAL, WITH EARLY-ONSET ANTERIOR POLAR CATARACT
Asterisk 614304 MICRO RNA 137; MIR137 miRNA137;; MIRN137
Number Sign 614305 SCLEROSTEOSIS 2; SOST2
Number Sign 614306 COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT
Number Sign 614307 ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD AMACR DEFICIENCY
Asterisk 614308 FORMIMINOTRANSFERASE CYCLODEAMINASE N-TERMINAL-LIKE PROTEIN 1; FTCDNL1 FORMIMINOTRANSFERASE N-TERMINAL SUBDOMAIN-CONTAINING GENE; FONG
Asterisk 614309 METHYLTRANSFERASE-LIKE 19; METTL19
Asterisk 614310 CENTROSOMAL PROTEIN, 70-KD; CEP70
Asterisk 614311 SYNAPSE DIFFERENTIATION-INDUCED GENE 1; SYNDIG1 TRANSMEMBRANE PROTEIN 90B; TMEM90B
Asterisk 614312 ZINC FINGER MYND-CONTAINING PROTEIN 15; ZMYND15
Asterisk 614313 ACYL-CoA THIOESTERASE 1; ACOT1
Asterisk 614314 ACYL-CoA THIOESTERASE 4; ACOT4
Asterisk 614315 ACYL-CoA THIOESTERASE 12; ACOT12 CYTOSOLIC ACETYL-CoA HYDROLASE; CACH
Asterisk 614316 VTI1, S. CEREVISIAE, HOMOLOG OF, A; VTI1A VTI1RP2 VTI1A/TCF7L2 FUSION GENE, INCLUDED
Percent 614317 VESICOURETERAL REFLUX 4; VUR4
Percent 614318 VESICOURETERAL REFLUX 5; VUR5
Percent 614319 VESICOURETERAL REFLUX 6; VUR6
Number Sign 614320 PANCREATIC CANCER, SUSCEPTIBILITY TO, 4; PNCA4
Number Sign 614321 MYOPATHY, DISTAL, TATEYAMA TYPE; MPDT
Number Sign 614322 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12 SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
Percent 614323 NEVOID HYPERMELANOSIS, LINEAR AND WHORLED; LWNH HYPERPIGMENTATION, PROGRESSIVE CRIBRIFORM AND ZOSTERIFORM, INCLUDED; PCZH, INCLUDED
Number Sign 614324 OVARIAN DYSGENESIS 3; ODG3
Number Sign 614325 PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2
Number Sign 614326 FEINGOLD SYNDROME 2; FGLDS2 BRACHYDACTYLY WITH SHORT STATURE AND MICROCEPHALY
Number Sign 614327 TUMOR PREDISPOSITION SYNDROME; TPDS
Number Sign 614328 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1
Percent 614329 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31; MRT31
Asterisk 614330 COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 2; C1QL2 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 10; C1QTNF10;; CTRP10
Number Sign 614331 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6 COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
Number Sign 614332 CHROMOSOME 2p16.3 DELETION SYNDROME SCHIZOPHRENIA 17, INCLUDED; SCZD17, INCLUDED
Percent 614333 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 29; MRT29
Asterisk 614334 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 13; DNAJC13 RECEPTOR-MEDIATED ENDOCYTOSIS 8, C. ELEGANS, HOMOLOG OF; RME8;; KIAA0678
Number Sign 614335 ARTHROGRYPOSIS, DISTAL, TYPE 1B; DA1B
Asterisk 614336 PRESEQUENCE TRANSLOCASE-ASSOCIATED MOTOR 16, S. CEREVISIAE, HOMOLOG OF; PAM16 MITOCHONDRIA-ASSOCIATED GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR SIGNALING MOLECULE; MAGMAS
Number Sign 614337 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4
Number Sign 614338 PANCREATIC LIPASE DEFICIENCY; PNLIPD LIPASE, CONGENITAL ABSENCE OF PANCREATIC;; PL DEFICIENCY PANCREATIC COLIPASE DEFICIENCY, INCLUDED;; COLIPASE, CONGENITAL ABSENCE OF PANCREATIC, INCLUDED;; LIPASE AND COLIPASE, DEFICIENCY OF, INCLUDED;; LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC, INCLUDED
Caret 614339 MOVED TO 607596
Number Sign 614340 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27; MRT27
Percent 614341 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 33; MRT33
Percent 614342 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30; MRT30
Percent 614343 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 19; MRT19
Percent 614344 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23; MRT23
Percent 614345 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24; MRT24
Percent 614346 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 25; MRT25
Percent 614347 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 28; MRT28
Asterisk 614348 CHROMOSOME 6 OPEN READING FRAME 105; C6ORF105 ANDROGEN-DEPENDENT TFPI-REGULATING PROTEIN; ADTRP
Asterisk 614349 ZINC FINGER PROTEIN 638; ZNF638 NUCLEAR PROTEIN, 220-KD; NP220
Number Sign 614350 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5
Asterisk 614351 NUCLEOPORIN, 93-KD; NUP93 NIC96, S. CEREVISIAE, HOMOLOG OF; NIC96;; KIAA0095
Asterisk 614352 NUCLEOPORIN, 205-KD; NUP205 CHROMOSOME 7 OPEN READING FRAMER 14; C7ORF14;; KIAA0225
Asterisk 614353 HAS2 ANTISENSE RNA 1; HAS2AS1 HYALURONAN SYNTHASE 2, ANTISENSE; HASNT
Asterisk 614354 PRO2268 GENE
Asterisk 614355 ACYL-CoA SYNTHETASE SHORT CHAIN FAMILY, MEMBER 1; ACSS1 ACYL-CoA SYNTHETASE 1; ACECS1
Asterisk 614356 ACYL-CoA SYNTHETASE SHORT CHAIN FAMILY, MEMBER 3; ACSS3
Asterisk 614357 ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 1; ACSM1 MEDIUM CHAIN ACYL-CoA SYNTHETASE 1; MACS1
Asterisk 614358 ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 2A; ACSM2A
Asterisk 614359 ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 2B; ACSM2B XENOBIOTIC/MEDIUM CHAIN FATTY ACID-CoA LIGASE A; HXMA
Asterisk 614360 ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 4; ACSM4
Asterisk 614361 ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 5; ACSM5
Asterisk 614362 ACYL-CoA SYNTHETASE, BUBBLEGUM FAMILY, MEMBER 1; ACSBG1 BUBBLEGUM, DROSOPHILA, HOMOLOG OF; BG;; BG1;; LIPIDOSIN;; KIAA0631
Asterisk 614363 ACYL-CoA SYNTHETASE, BUBBLEGUM FAMILY, MEMBER 2; ACSBG2 BUBBLEGUM-RELATED PROTEIN; BGR
Asterisk 614364 ACETOACETYL-CoA SYNTHETASE; AACS ACYL-CoA SYNTHETASE FAMILY, MEMBER 1; ACSF1
Asterisk 614365 AMINOADIPATE-SEMIALDEHYDE DEHYDROGENASE; AASDH ACYL-CoA SYNTHETASE FAMILY, MEMBER 4; ACSF4
Asterisk 614366 POLYMERASE III, RNA, SUBUNIT B; POLR3B RPC2;; C128, S. CEREVISIAE, HOMOLOG OF; C128
Asterisk 614367 ADAPTOR-RELATED PROTEIN COMPLEX 5, BETA-1 SUBUNIT; AP5B1 ADAPTOR-RELATED PROTEIN COMPLEX 5, BETA SUBUNIT;; BETA-5;; DKFZp761E198
Asterisk 614368 ADAPTOR-RELATED PROTEIN COMPLEX 5, MU-1 SUBUNIT; AP5M1 MU-2/AP1M2 DOMAIN-CONTAINING DEATH-INDUCING PROTEIN; MUDENG;; MUD;; CHROMOSOME 14 OPEN READING FRAME 108; C14ORF108;; ADAPTOR-RELATED PROTEIN COMPLEX 5, MU SUBUNIT;; MU-5
Number Sign 614369 PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH
Number Sign 614370 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5 PULMONARY ALVEOLAR PROTEINOSIS 5;; PAP DUE TO CSF2RB DEFICIENCY;; CSF2RB DEFICIENCY
Number Sign 614371 DENGUE VIRUS, SUSCEPTIBILITY TO DENGUE FEVER, SUSCEPTIBILITY TO, INCLUDED;; DENGUE FEVER, PROTECTION AGAINST, INCLUDED;; DENGUE HEMORRHAGIC FEVER, SUSCEPTIBILITY TO, INCLUDED;; DENGUE SHOCK SYNDROME, SUSCEPTIBILITY TO, INCLUDED
Number Sign 614372 MANNOSE-BINDING LECTIN DEFICIENCY; MBLD LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 1; LCAPD1;; MBL DEFICIENCY;; MANNOSE-BINDING PROTEIN DEFICIENCY;; MBP DEFICIENCY;; MBL2 DEFICIENCY
Number Sign 614373 AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16
Number Sign 614374 BLOOD GROUP, CHIDO/RODGERS SYSTEM CHIDO/RODGERS BLOOD GROUP SYSTEM
Percent 614375 AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 4; AAA4
Number Sign 614376 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 ASPHYXIATING THORACIC DYSTROPHY 5; ATD5
Number Sign 614377 NEPHRONOPHTHISIS 13; NPHP13
Number Sign 614378 CRANIOECTODERMAL DYSPLASIA 4; CED4
Number Sign 614379 COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD C4B DEFICIENCY
Number Sign 614380 COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD C4A DEFICIENCY
Number Sign 614381 LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8
Number Sign 614382 BACTEREMIA, SUSCEPTIBILITY TO, 1; BACTS1 BACTEREMIA, RESISTANCE TO, INCLUDED
Number Sign 614383 BACTEREMIA, SUSCEPTIBILITY TO, 2; BACTS2
Asterisk 614384 MICRO RNA 492; MIR492 miRNA492
Number Sign 614385 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7; HNPCC7
Asterisk 614386 PROLINE-RICH TRANSMEMBRANE PROTEIN 2; PRRT2
Asterisk 614387 ZINC FINGER PROTEIN 526; ZNF526 KIAA1951
Number Sign 614388 ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1; EMPF1 EMPF
Number Sign 614389 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1 RPRGL;; RPL;; ABORTION, SPONTANEOUS, RECURRENT;; FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO;; MISCARRIAGE, RECURRENT;; EMBRYONIC LOSS, RECURRENT;; STILLBIRTH, RECURRENT
Number Sign 614390 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2
Number Sign 614391 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3; RPRGL3
Asterisk 614392 TUDOR DOMAIN-CONTAINING PROTEIN 3; TDRD3
Asterisk 614393 O-ACYL-ADP-RIBOSE DEACYLASE 1; OARD1 CHROMOSOME 6 OPEN READING FRAME 130; C6ORF130
Asterisk 614394 INTRAFLAGELLAR TRANSPORT 20, CHLAMYDOMONAS, HOMOLOG OF: IFT20
Number Sign 614395 GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO; GVHDS GRAFT-VERSUS-HOST DISEASE, RESISTANCE TO, INCLUDED
Asterisk 614396 G-PATCH DOMAIN-CONTAINING PROTEIN 8; GPATCH8 KIAA0553
Asterisk 614397 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 2A; MFSD2A
Asterisk 614398 KIAA1462 GENE; KIAA1462 JUNCTIONAL PROTEIN ASSOCIATED WITH CORONARY ARTERY DISEASE; JCAD
Number Sign 614399 MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET; EMARDD MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, INCLUDED
Number Sign 614400 GLUCOCORTICOID THERAPY, RESPONSE TO; GCTR
Number Sign 614401 ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS
Number Sign 614402 MICROPHTHALMIA, SYNDROMIC 11; MCOPS11
Asterisk 614403 RHOMBOID 5, DROSOPHILA, HOMOLOG OF, 1; RHBDF1 INACTIVE RHOMBOID PROTEIN 1; IRHOM1;; DIST1
Asterisk 614404 RHOMBOID 5, DROSOPHILA, HOMOLOG OF, 2; RHBDF2 INACTIVE RHOMBOID PROTEIN 2; IRHOM2
Asterisk 614405 DEAH BOX POLYPEPTIDE 33; DHX33
Asterisk 614406 SLP ADAPTOR- AND CSK-INTERACTING MEMBRANE PROTEIN; SCIMP SLP65/SLP76- AND CSK-INTERACTING MEMBRANE PROTEIN;; CHROMOSOME 17 OPEN READING FRAME 87; C17ORF87
Percent 614407 MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECT SYNDROME; MCHCCD ZAKI-GLEESON SYNDROME
Number Sign 614408 MYOPATHY, CENTRONUCLEAR, 3; CNM3
Number Sign 614409 SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE; SPG46
Asterisk 614410 ACTIN FILAMENT-ASSOCIATED PROTEIN 1-LIKE 1; AFAP1L1
Number Sign 614411 GLYCEROL QUANTITATIVE TRAIT LOCUS; GLYCQTL GLYCEROL RELEASE DURING EXERCISE, DEFECTIVE BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 17, INCLUDED; BMIQ17, INCLUDED
Asterisk 614412 TESTIS- AND OVARY-SPECIFIC PAZ DOMAIN-CONTAINING PROTEIN 1; TOPAZ1 CHROMOSOME 3 OPEN READING FRAME 77; C3ORF77
Asterisk 614413 AMINOACYLASE 3; ACY3 ASPARTOACYLASE 3;; HEPATITIS C VIRUS CORE-BINDING PROTEIN 1; HCBP1;; HCV CORE-BINDING PROTEIN 1
Percent 614414 DEAFNESS, AUTOSOMAL RECESSIVE 96; DFNB96
Number Sign 614415 CHILBLAIN LUPUS 2; CHBL2
Number Sign 614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA
Number Sign 614417 EPILEPSY, FAMILIAL TEMPORAL LOBE, 5; ETL5
Number Sign 614418 FEBRILE SEIZURES, FAMILIAL, 11; FEB11 CONVULSIONS, FAMILIAL FEBRILE, 11
Number Sign 614419 ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 ASTQTL1
Number Sign 614420 SYSTEMIC LUPUS ERYTHEMATOSUS 16; SLEB16
Caret 614421 MOVED TO 277590
Percent 614422 CATARACT 37; CTRCT37 CATARACT, CONGENITAL, CERULEAN TYPE, 5; CCA5
Asterisk 614423 TRANSMEMBRANE PROTEIN 237; TMEM237 ALS2 CHROMOSOME REGION GENE 4; ALS2CR4
Number Sign 614424 JOUBERT SYNDROME 14; JBTS14
Asterisk 614425 TELO2-INTERACTING PROTEIN 1; TTI1 KIAA0406
Asterisk 614426 TELO2-INTERACTING PROTEIN 2; TTI2 CHROMOSOME 8 OPEN READING FRAME 41; C8ORF41
Asterisk 614427 TEASHIRT ZINC FINGER HOMEOBOX 1; TSHZ1 TSH1;; NY-CO-33
Asterisk 614428 TRANSCRIPTION FACTOR AP2-EPSILON; TFAP2E AP2-EPSILON
Number Sign 614429 VENTRICULAR SEPTAL DEFECT 1; VSD1
Number Sign 614430 ATRIOVENTRICULAR SEPTAL DEFECT 4; AVSD4
Number Sign 614431 VENTRICULAR SEPTAL DEFECT 2; VSD2
Number Sign 614432 VENTRICULAR SEPTAL DEFECT 3; VSD3
Number Sign 614433 ATRIAL SEPTAL DEFECT 8; ASD8
Number Sign 614434 CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2
Number Sign 614435 HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2
Number Sign 614436 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P; CMT2P CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G, FORMERLY; CMT2G, FORMERLY
Number Sign 614437 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B
Number Sign 614438 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B DE BARSY SYNDROME B
Asterisk 614439 ADP-RIBOSYLATION FACTOR-LIKE 14; ARL14 ADP-RIBOSYLATION FACTOR 7; ARF7
Asterisk 614440 PLECKSTRIN AND SEC7 DOMAINS-CONTAINING PROTEIN 3; PSD3 HCA67;; EFA6R
Number Sign 614441 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2 PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE;; PDP, AUTOSOMAL RECESSIVE
Asterisk 614442 PLECKSTRIN AND SEC7 DOMAINS-CONTAINING PROTEIN 4; PSD4 EXCHANGE FACTOR FOR ARF6, B; EFA6B;; TELOMERIC OF INTERLEUKIN 1 CLUSTER; TIC
Asterisk 614443 EBNA1-BINDING PROTEIN 2; EBNA1BP2 EBP2
Asterisk 614444 RAL GUANINE NUCLEOTIDE EXCHANGE FACTOR WITH PH DOMAIN AND SH3 DOMAIN-BINDING MOTIF 1; RALGPS1 RAL GEF WITH PH DOMAIN AND SH3 DOMAIN-BINDING MOTIF;; RAL GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; RALGEF2;; KIAA0351
Asterisk 614445 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 2; DPPA2 PLURIPOTENT EMBRYONIC STEM CELL-RELATED GENE 1; PESCRG1;; EMBRYONIC STEM CELL-ASSOCIATED TRANSCRIPT 15-2;; ECAT15-2
Asterisk 614446 ATPase, CLASS II, TYPE 9B; ATP9B
Asterisk 614447 G0/G1 SWITCH GENE 2; G0S2
Asterisk 614448 GEMININ COILED-COIL DOMAIN-CONTAINING PROTEIN; GMNC GEMC1
Asterisk 614449 PROTOCADHERIN 20; PCDH20 PROTOCADHERIN 13; PCDH13
Number Sign 614450 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6
Asterisk 614451 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 7; ELOVL7 ELOVL FATTY ACID ELONGASE 7
Asterisk 614452 ATPASE FAMILY, AAA DOMAIN-CONTAINING, MEMBER 1; ATAD1 THORASE
Asterisk 614453 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 7; LRRC7 DENSIN;; DENSIN 180;; KIAA1365
Asterisk 614454 UBIQUITIN PROTEIN LIGASE E3C; UBE3C HECTH2;; KIAA0010;; KIAA10
Number Sign 614455 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS
Number Sign 614456 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8 MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
Number Sign 614457 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR
Number Sign 614458 THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5 ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY
Asterisk 614459 TRANSMEMBRANE PROTEIN 138; TMEM138
Asterisk 614460 UBIQUITIN-SPECIFIC PROTEASE 47; USP47
Asterisk 614461 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ASSEMBLY FACTOR 2; UQCC2 CHROMOSOME 6 OPEN READING FRAME 125; C6ORF125;; M19
Number Sign 614462 HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES; HGCLAS PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD
Asterisk 614463 NMYC DOWNSTREAM-REGULATED GENE 4; NDRG4 SMOOTH MUSCLE-ASSOCIATED PROTEIN 8; SMAP8;; KIAA1180
Number Sign 614464 JOUBERT SYNDROME 15; JBTS15 JOUBERT SYNDROME 9/15, DIGENIC, INCLUDED;; JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED
Number Sign 614465 JOUBERT SYNDROME 16; JBTS16
Number Sign 614466 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6; CHDS6
Caret 614467 MOVED TO 212350
Number Sign 614468 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; PLAID;; FAMILIAL ATYPICAL COLD URTICARIA; FACU
Asterisk 614469 SERRATE RNA EFFECTOR MOLECULE, ARABIDOPSIS, HOMOLOG OF; SRRT ARSENITE RESISTANCE PROTEIN 2; ARS2
Number Sign 614470 RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER; RALD AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV; ALPS4
Asterisk 614471 UBIQUITIN-SPECIFIC PROTEASE 19; USP19 KIAA0891
Asterisk 614472 RING FINGER PROTEIN 123; RNF123 KIP1 UBIQUITINATION-PROMOTING COMPLEX 1; KPC1
Number Sign 614473 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2
Number Sign 614474 ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5
Number Sign 614475 ATRIAL SEPTAL DEFECT 9; ASD9
Asterisk 614476 THROMBOSPONDIN TYPE-1 DOMAIN-CONTAINING PROTEIN 4; THSD4 ADAMTS-LIKE PROTEIN 6; ADAMTSL6
Asterisk 614477 CHROMOSOME 8 OPEN READING FRAME 37; C8ORF37
Asterisk 614478 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX14; COX14 COX14, S. CEREVISIAE, HOMOLOG OF;; CHROMOSOME 12 OPEN READING FRAME 62; C12ORF62
Asterisk 614479 MALONYL CoA:ACP ACYLTRANSFERASE, MITOCHONDRIAL; MCAT MITOCHONDRIAL MALONYLTRANSFERASE;; MT, MITOCHONDRIAL
Number Sign 614480 HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE; HTGTI
Asterisk 614481 ATXN7 ANTISENSE RNA 1; ATXN7AS1 SCA7 ANTISENSE NONCODING TRANSCRIPT 1; SCAANT1
Number Sign 614482 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND
Number Sign 614483 PORENCEPHALY 2; POREN2
Asterisk 614484 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 13; ANAPC13 APC13;; SWM1, S. CEREVISIAE, HOMOLOG OF; SWM1
Number Sign 614485 TRIGONOCEPHALY 2; TRIGNO2 CRANIOSYNOSTOSIS, METOPIC
Number Sign 614486 THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT; THPH12
Number Sign 614487 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5
Asterisk 614488 MICRO RNA 1258; MIR1258 miRNA1258
Asterisk 614489 MICRO RNA 616; MIR616 miRNA616
Number Sign 614490 BLOOD GROUP, JUNIOR SYSTEM; JR
Number Sign 614491 PSEUDOHYPOALDOSTERONISM, TYPE IIB; PHA2B
Number Sign 614492 PSEUDOHYPOALDOSTERONISM, TYPE IIC; PHA2C
Number Sign 614493 WISKOTT-ALDRICH SYNDROME 2; WAS2 WIPF1 DEFICIENCY
Percent 614494 RETINITIS PIGMENTOSA 63; RP63
Number Sign 614495 PSEUDOHYPOALDOSTERONISM, TYPE IID; PHA2D FAMILIAL HYPERKALEMIC HYPERTENSION; FHHT
Number Sign 614496 PSEUDOHYPOALDOSTERONISM, TYPE IIE; PHA2E
Number Sign 614497 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7; MCOPCB7
Number Sign 614498 RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL; RMFSL
Number Sign 614499 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY; MRT34
Number Sign 614500 CONE-ROD DYSTROPHY 16; CORD16 RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT RETINITIS PIGMENTOSA 64, INCLUDED; RP64, INCLUDED
Number Sign 614501 PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED
Asterisk 614502 CHROMOSOME 9 OPEN READING FRAME 116; C9ORF116 p53-INDUCED EXPRESSION IN RB-NULL CELLS 1; PIERCE1
Asterisk 614503 KELCH DOMAIN-CONTAINING PROTEIN 8A; KLHDC8A SUBSTITUTE FOR DELTA-EGFR EXPRESSION 1;; S-DELTA-E1
Number Sign 614504 USHER SYNDROME, TYPE IIIB; USH3B
Asterisk 614505 FK506-BINDING PROTEIN 14; FKBP14
Asterisk 614506 BRCA1-ASSOCIATED ATM ACTIVATOR 1; BRAT1 BAAT1;; CHROMOSOME 7 OPEN READING FRAME 27; C7ORF27
Number Sign 614507 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir; CDG1R
Number Sign 614508 MIRROR MOVEMENTS 2; MRMV2
Asterisk 614509 MICRO RNA 99A; MIR99A miRNA99A
Asterisk 614510 MICRO RNA 99B; MIR99B miRNA99B
Asterisk 614511 MYOD FAMILY INHIBITOR DOMAIN-CONTAINING PROTEIN; MDFIC IMFA DOMAIN-CONTAINING PROTEIN; HIC
Asterisk 614512 TORSIN A-INTERACTING PROTEIN 1; TOR1AIP1 LAMIN-ASSOCIATED PROTEIN 1; LAP1;; LAP1B
Asterisk 614513 TORSIN A-INTERACTING PROTEIN 2; TOR1AIP2 LUMINAL DOMAIN LIKE LAP1; LULL1
Number Sign 614514 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6
Asterisk 614515 G PROTEIN-COUPLED RECEPTOR 179; GPR179 GPR158-LIKE; GPR158L;; GPR158L1
Asterisk 614516 DOLICHYL PYROPHOSPHATE PHOSPHATASE 1; DOLPP1 LSFR2, PUFFERFISH, HOMOLOG OF; LSFR2
Asterisk 614517 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE PROTEIN 2; ARNTL2 BRAIN AND MUSCLE ARNT-LIKE PROTEIN 2; BMAL2;; CYCLE-LIKE FACTOR; CLIF
Asterisk 614518 GATA ZINC FINGER DOMAIN-CONTAINING PROTEIN 1; GATAD1 OCULAR DEVELOPMENT-ASSOCIATED GENE; ODAG
Number Sign 614519 HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO
NULL 614520 ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNEL DEFICIENCY
Number Sign 614521 THROMBOCYTHEMIA 3; THCYT3 THROMBOCYTOSIS 3
Asterisk 614522 KELCH-LIKE 12; KLHL12 DKIR
Asterisk 614523 MICRO RNA 489; MIR489 miRNA489
Number Sign 614524 FIBROCHONDROGENESIS 2; FBCG2
Asterisk 614525 NFATC2-INTERACTING PROTEIN; NFATC2IP NFAT-INTERACTING PROTEIN, 45-KD; NIP45
Number Sign 614526 CHROMOSOME 17q12 DUPLICATION SYNDROME
Number Sign 614527 CHROMOSOME 17q12 DELETION SYNDROME
Asterisk 614528 HIF1A ANTISENSE RNA 1; HIF1AAS1 ANTISENSE HIF1-ALPHA, 5-PRIME;; AHIF1A, 5-PRIME
Asterisk 614529 HIF1A ANTISENSE RNA 2; HIF1AAS2 ANTISENSE HIF1-ALPHA; AHIF;; ANTISENSE HIF1-ALPHA, 3-PRIME;; AHIFIA, 3-PRIME
Asterisk 614530 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 12; NDUFA12 B17.2
Asterisk 614531 RASGEF DOMAIN FAMILY, MEMBER 1A; RASGEF1A
Asterisk 614532 RASGEF DOMAIN FAMILY, MEMBER 1B; RASGEF1B GPI-GAMMA-4; GPIG4
Asterisk 614533 CELL DIVISION CYCLE 26, S. CEREVISIAE, HOMOLOG OF; CDC26 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 12; ANAPC12; APC12
Asterisk 614534 ANAPHASE-PROMOTING COMPLEX SUBUNIT 11; ANAPC11 APC11
Asterisk 614535 ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 7; ZSWIM7 SWIM-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 7;; SWIM DOMAIN-CONTAINING SRS2-INTERACTING PROTEIN 1; SWS1
Asterisk 614536 SWIM-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 7-ASSOCIATED PROTEIN 1; SWSAP1 SWS1-ASSOCIATED PROTEIN 1;; ZSWIM7-ASSOCIATED PROTEIN 1; ZSWIM7AP1;; CHROMOSOME 19 OPEN READING FRAME 39; C19ORF39
Asterisk 614537 LEUCINE-RICH MELANOCYTE DIFFERENTIATION-ASSOCIATED PROTEIN; LRMDA CHROMOSOME 10 OPEN READING FRAME 11; C10ORF11
Asterisk 614538 MICRO RNA 570; MIR570 miRNA570
Asterisk 614539 HELICASE, DNA, B; HELB DNA HELICASE B;; HDHB
Caret 614540 MOVED TO 213600
Number Sign 614541 CHROMOSOME 16q22 DELETION SYNDROME
Asterisk 614542 FAMILY WITH SEQUENCE SIMILARITY 69, MEMBER A; FAM69A
Asterisk 614543 FAMILY WITH SEQUENCE SIMILARITY 69, MEMBER B; FAM69B
Asterisk 614544 FAMILY WITH SEQUENCE SIMILARITY 69, MEMBER C; FAM69C
Asterisk 614545 ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 10; EMC10 ER MEMBRANE PROTEIN COMPLEX, SUBUNIT 10;; CHROMOSOME 19 OPEN READING FRAME 63; C19ORF63 HEMATOPOIETIC SIGNAL PEPTIDE-CONTAINING SECRETED PROTEIN 1, INCLUDED; HSS1, INCLUDED;; HEMATOPOIETIC SIGNAL PEPTIDE- AND MEMBRANE DOMAIN-CONTAINING PROTEIN 1, INCLUDED; HSM1, INCLUDED
Number Sign 614546 EFAVIRENZ, POOR METABOLISM OF EFAVIRENZ CENTRAL NERVOUS SYSTEM TOXICITY, SUSCEPTIBILITY TO, INCLUDED
Asterisk 614547 FAMILY WITH SEQUENCE SIMILARITY 103, MEMBER A1; FAM103A1 RNMT-ACTIVATING MINIPROTEIN; RAM
Asterisk 614548 SERINE INCORPORATOR 1; SERINC1 TMS2;; KIAA1253
Asterisk 614549 SERINE INCORPORATOR 2; SERINC2 TUMOR DIFFERENTIALLY EXPRESSED GENE 2; TDE2
Asterisk 614550 SERINE INCORPORATOR 4; SERINC4
Asterisk 614551 SERINE INCORPORATOR 5; SERINC5 CHROMOSOME 5 OPEN READING FRAME 12; C5ORF12;; TPO1
Asterisk 614552 XYLOSIDE XYLOSYLTRANSFERASE 1; XXYLT1 CHROMOSOME 3 OPEN READING FRAME 21; C3ORF21
Asterisk 614553 N6 ADENINE-SPECIFIC DNA METHYLTRANSFERASE 1, PUTATIVE; N6AMT1
Asterisk 614554 FAMILY WITH SEQUENCE SIMILARITY 32, MEMBER A; FAM32A OVARIAN TUMOR-ASSOCIATED GENE 12; OTAG12
Asterisk 614555 FERM DOMAIN-CONTAINING PROTEIN 6; FRMD6 WILLIN;; CHROMOSOME 14 OPEN READING FRAME 31; C14ORF31
Asterisk 614556 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 1B; ARID1B ARID-CONTAINING PROTEIN 1B;; BAF-ASSOCIATED FACTOR, 250-KD, B; BAF250B;; ELD/OSA1;; KIAA1235
Number Sign 614557 EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2 EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS; EDSKMH
Number Sign 614558 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13
Number Sign 614559 INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD
Asterisk 614560 MAU2 CHROMATID COHESION FACTOR, C. ELEGANS, HOMOLOG OF; MAU2 SISTER CHROMATID COHESION 4, S. CEREVISIAE, HOMOLOG OF; SCC4;; KIAA0892
Number Sign 614561 LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC LABRUNE SYNDROME
Caret 614562 MOVED TO 135900
Number Sign 614563 MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, WITH NEURONAL MIGRATION DEFECTS
Number Sign 614564 CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL; FCTCS TELANGIECTASIA, CUTANEOUS, AND CANCER SYNDROME, FAMILIAL
Number Sign 614565 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E; CSNB1E CSNB, COMPLETE, AUTOSOMAL RECESSIVE
Asterisk 614566 DYNEIN, AXONEMAL, ASSEMBLY FACTOR 3; DNAAF3 PF22, CHLAMYDOMONAS, HOMOLOG OF; PF22;; DYNEIN ASSEMBLY BLOCKED 1, CHLAMYDOMONAS, HOMOLOG OF; DAB1
Asterisk 614567 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 3; DIAPH3 DIA2;; DIAPHANOUS-RELATED FORMIN 3; DRF3
Asterisk 614568 UNC13, C. ELEGANS, HOMOLOG OF, C; UNC13C MUNC13-3
Percent 614569 MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE MAFFUCCI SYNDROME
Asterisk 614570 KINESIN FAMILY MEMBER 18B; KIF18B
Asterisk 614571 CHROMOSOME 5 OPEN READING FRAME 42; C5ORF42
Asterisk 614572 ZINC FINGER PROTEIN 42; ZFP42 REDUCED EXPRESSION GENE 1; REX1
Asterisk 614573 G PROTEIN-COUPLED RECEPTOR 158; GPR158 KIAA1136
Asterisk 614574 ROGDI, DROSOPHILA, HOMOLOG OF; ROGDI
Percent 614575 CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME; CANVAS
Number Sign 614576 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L CDG IIl; CDGIIl
Asterisk 614577 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 3; PAQR3 RAF KINASE TRAPPING TO GOLGI; RKTG
Asterisk 614578 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 4; PAQR4
Asterisk 614579 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 6; PAQR6
Asterisk 614580 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 9; PAQR9
Asterisk 614581 MONOCYTE-TO-MACROPHAGE DIFFERENTIATION-ASSOCIATED PROTEIN 2; MMD2 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 10; PAQR10
Number Sign 614582 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9
Number Sign 614583 BARAITSER-WINTER SYNDROME 2; BRWS2
Asterisk 614584 PROLYL 4-HYDROXYLASE, TRANSMEMBRANE; P4HTM PROLINE HYDROXYLASE 4; PH4
Asterisk 614585 FERREDOXIN 1-LIKE PROTEIN; FDX1L FDX1-LIKE PROTEIN;; FERREDOXIN 2; FDX2
Asterisk 614586 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 5; ZDHHC5 DHHC5;; ZINC FINGER PROTEIN 375; ZNF375;; KIAA1748
Asterisk 614587 ChaC, E. COLI, HOMOLOG OF, 1; CHAC1 CATION TRANSPORT REGULATOR-LIKE PROTEIN 1
Percent 614588 DYSTONIA 21; DYT21
Asterisk 614589 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 37; TTC37 KIAA0372
Percent 614590 PODOCONIOSIS, SUSCEPTIBILITY TO; PDCOS NONFILARIAL ELEPHANTIASIS OF LOWER LEGS, SUSCEPTIBILITY TO;; ENDEMIC NONFILARIAL ELEPHANTIASIS, SUSCEPTIBILITY TO;; LYMPHOSTATIC VERRUCOSIS, SUSCEPTIBILITY TO
Asterisk 614591 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 16; CEACAM16 CEA-LIKE 2; CEAL2
Number Sign 614592 BENT BONE DYSPLASIA SYNDROME; BBDS
Asterisk 614593 MEIOSIS REGULATOR AND mRNA STABILITY FACTOR 1; MARF1 KIAA0430;; LIMKAIN B1; LKAP;; MEIOSIS ARREST FEMALE 1
Number Sign 614594 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES OLMSTED SYNDROME; OLMS
Number Sign 614595 PREECLAMPSIA/ECLAMPSIA 5; PEE5
Asterisk 614596 MICRO RNA 302A; MIR302A miRNA302A
Asterisk 614597 MICRO RNA 302B; MIR302B miRNA302B
Asterisk 614598 MICRO RNA 302C; MIR302C miRNA302C
Asterisk 614599 MICRO RNA 302D; MIR302D miRNA302D
Asterisk 614600 MICRO RNA 367; MIR367 miRNA367
Asterisk 614601 ZINC FINGER PROTEIN 326; ZNF326 ZINC FINGER PROTEIN INTERACTING WITH NUCLEAR MESSENGER RIBONUCLEOPROTEINS AND DBC1; ZIRD
Number Sign 614602 TRICHOHEPATOENTERIC SYNDROME 2; THES2
Asterisk 614603 DDHD DOMAIN-CONTAINING PROTEIN 1; DDHD1 PHOSPHATIDIC ACID-PREFERRING PHOSPHOLIPASE A1; PAPLA1;; KIAA1705
Asterisk 614604 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 7; ZDHHC7 DHHC7
Asterisk 614605 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 21; ZDHHC21 DHHC21
Asterisk 614606 FOCADHESIN; FOCAD KIAA1797
Number Sign 614607 COFFIN-SIRIS SYNDROME 2; CSS2 MENTAL RETARDATION, AUTOSOMAL DOMINANT 14; MRD14
Number Sign 614608 COFFIN-SIRIS SYNDROME 3; CSS3 MENTAL RETARDATION, AUTOSOMAL DOMINANT 15; MRD15
Number Sign 614609 COFFIN-SIRIS SYNDROME 4; CSS4 MENTAL RETARDATION, AUTOSOMAL DOMINANT 16; MRD16
Asterisk 614610 KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 2; KANK2 SRC-INTERACTING PROTEIN; SIP;; ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 25; ANKRD25;; KIAA1518
Asterisk 614611 KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 3; KANK3
Asterisk 614612 KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 4; KANK4
Number Sign 614613 ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2
Number Sign 614614 DEAFNESS, AUTOSOMAL DOMINANT 4B; DFNA4B
Number Sign 614615 JOUBERT SYNDROME 17; JBTS17
Number Sign 614616 DIARRHEA 6; DIAR6
Number Sign 614617 DEAFNESS, AUTOSOMAL RECESSIVE 86; DFNB86
Number Sign 614618 HYPEREKPLEXIA 3; HKPX3
Number Sign 614619 HYPEREKPLEXIA 2; HKPX2
Asterisk 614620 INTRAFLAGELLAR TRANSPORT 140, CHLAMYDOMONAS, HOMOLOG OF; IFT140 KIAA0590
Number Sign 614621 UV-SENSITIVE SYNDROME 2; UVSS2
Percent 614622 KERATOCONUS 5; KTCN5
Percent 614623 KERATOCONUS 6; KTCN6
Asterisk 614624 MITOCHONDRIAL ASSEMBLY OF RIBOSOMAL LARGE SUBUNIT 1; MALSU1 CHROMOSOME 7 OPEN READING FRAME 30; C7ORF30
Asterisk 614625 DIFFERENTIATION-ANTAGONIZING NONCODING RNA; DANCR ANTI-DIFFERENTIATION NONCODING RNA; ANCR;; KIAA0114
Asterisk 614626 SMALL NUCLEOLAR RNA, H/ACA BOX, 26; SNORA26 snoRNA, HBI-6;; MBI-6, MOUSE, HOMOLOG OF
Asterisk 614627 MICRO RNA 4449; MIR4449 miRNA4449
Percent 614628 KERATOCONUS 8; KTCN8
Percent 614629 KERATOCONUS 7; KTCN7
Asterisk 614630 ANDROGLOBIN; ADGB
Asterisk 614631 ISOPRENOID SYNTHASE DOMAIN-CONTAINING PROTEIN; ISPD
Asterisk 614632 UV-STIMULATED SCAFFOLD PROTEIN A; UVSSA KIAA1530
Asterisk 614633 VACUOLAR PROTEIN SORTING 54, S. CEREVISIAE, HOMOLOG OF; VPS54 VPS54-LIKE; VPS54L;; WOBBLER, MOUSE, HOMOLOG OF; WR;; SLP8
Asterisk 614634 CENTROSOMAL PROTEIN 126; CEP126 KIAA1377
Asterisk 614635 LONG INTERGENIC NONCODING RNA 538; LINC00538 YIYA
Asterisk 614636 MYOSIN IH; MYO1H
Asterisk 614637 DESUMOYLATING ISOPEPTIDASE 1; DESI1 PPPDE PEPTIDASE DOMAIN-CONTAINING PROTEIN 2; PPPDE2
Asterisk 614638 DESUMOYLATING ISOPEPTIDASE 2; DESI2 PPPDE PEPTIDASE DOMAIN-CONTAINING PROTEIN 1; PPPDE1
Asterisk 614639 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 46; ZBTB46 BTB-ZINC FINGER PROTEIN EXPRESSED IN EFFECTOR LYMPHOCYTES; BZEL
Number Sign 614640 UV-SENSITIVE SYNDROME 3; UVSS3
Asterisk 614641 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 5; LAMP5 BRAIN- AND DENDRITIC CELL-ASSOCIATED LAMP; BADLAMP
Asterisk 614642 START DOMAIN-CONTAINING PROTEIN 9; STARD9 KIAA1300
Number Sign 614643 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
Percent 614644 MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 4; MPVQTL4
Percent 614645 MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 5; MPVQTL5
Percent 614646 MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 6; MPVQTL6
Asterisk 614647 COQ6, S. CEREVISIAE, HOMOLOG OF; COQ6 COENZYME Q10 MONOOXYGENASE 6;; CGI10
Asterisk 614648 RALY-LIKE PROTEIN; RALYL
Asterisk 614649 RING FINGER PROTEIN 170; RNF170
Number Sign 614650 COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6
Number Sign 614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2
Number Sign 614652 COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3
Number Sign 614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6 HSAN VI
Number Sign 614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5
Percent 614655 STUTTERING, FAMILIAL PERSISTENT, 3; STUT3
Asterisk 614656 PALADIN1; PALD1 PALADIN, MOUSE, HOMOLOG OF; PALD;; KIAA1274
Asterisk 614657 ANGIOMOTIN-LIKE 1; AMOTL1 JUNCTION-ENRICHED AND -ASSOCIATED PROTEIN; JEAP
Asterisk 614658 ANGIOMOTIN-LIKE 2; AMOTL2 KIAA0989
Asterisk 614659 FAMILY WITH SEQUENCE SIMILARITY 123, MEMBER A; FAM123A APC MEMBRANE RECRUITMENT PROTEIN 2; AMER2
Asterisk 614660 PROTEIN ASSOCIATED WITH TOPOISOMERASE II, S. CEREVISIAE, HOMOLOG OF, 1; PATL1 PAT1-LIKE 1;; PAT1B
Asterisk 614661 PROTEIN ASSOCIATED WITH TOPOISOMERASE II, S. CEREVISIAE, HOMOLOG OF, 2; PATL2 PAT1-LIKE 2;; PAT1A
Number Sign 614662 CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2
Asterisk 614663 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN ASSOCIATED WITH LETHAL YELLOW, MOUSE, HOMOLOG OF; RALY RALY, MOUSE, HOMOLOG OF;; RNA-BINDING PROTEIN RALY, AUTOANTIGENIC;; p542
Asterisk 614664 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 4; TREML4 TREM-LIKE TRANSCRIPT 4; TLT4
Number Sign 614665 MECONIUM ILEUS
Asterisk 614666 COILED-COIL DOMAIN-CONTAINING PROTEIN 78; CCDC78 CHROMOSOME 16 OPEN READING FRAME 25; C16ORF25
Asterisk 614667 MITOCHONDRIAL TRANSLATION OPTIMIZATION 1, S. CEREVISIAE, HOMOLOG OF; MTO1
Percent 614668 STUTTERING, FAMILIAL PERSISTENT, 4; STUT4
Number Sign 614669 AURICULOCONDYLAR SYNDROME 2; ARCND2
Percent 614670 PERIPARTUM CARDIOMYOPATHY, SUSCEPTIBILITY TO PPCM, SUSCEPTIBILITY TO
Number Sign 614671 CHROMOSOME 16p11.2 DUPLICATION SYNDROME AUTISM, SUSCEPTIBILITY TO, 14B, INCLUDED; AUTS14B, INCLUDED
Number Sign 614672 CARDIOMYOPATHY, DILATED, 2B; CMD2B
Number Sign 614673 MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE; MCPH8
Number Sign 614674 PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT
Number Sign 614675 BONE MARROW FAILURE SYNDROME 1; BMFS1
Percent 614676 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 21; CMH21
Asterisk 614677 COILED-COIL DOMAIN-CONTAINING PROTEIN 103; CCDC103 SCHMALHANS, ZEBRAFISH, HOMOLOG OF; SMH;; PR46B, CHLAMYDOMONAS, HOMOLOG OF; PR46B
Number Sign 614678 PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B
Number Sign 614679 CILIARY DYSKINESIA, PRIMARY, 17; CILD17 CILIARY DYSKINESIA, PRIMARY, 17, WITH OR WITHOUT SITUS INVERSUS
Number Sign 614680 INFLUENZA, SEVERE, SUSCEPTIBILITY TO
Asterisk 614681 AMINOGLYCOSIDE PHOSPHOTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; AGPHD1
Asterisk 614682 ALANINE-GLYOXYLATE AMINOTRANSFERASE 2-LIKE 1; AGXT2L1
Asterisk 614683 5-PHOSPHOHYDROXY-L-LYSINE PHOSPHO-LYASE; PHYKPL ALANINE-GLYOXYLATE AMINOTRANSFERASE 2-LIKE 2; AGXT2L2
Percent 614684 HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITAL ABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES
Asterisk 614685 ZINC FINGER PROTEIN 597; ZNF597
Asterisk 614686 FAMILY WITH SEQUENCE SIMILARITY 50, MEMBER B; FAM50B XAP5-LIKE PROTEIN; X5L FAMILY WITH SEQUENCE SIMILARITY 50, MEMBER B, ANTISENSE TRANSCRIPT, INCLUDED; FAM50BAS, INCLUDED
NULL 614687 ALAR CLEFT, ISOLATED
NULL 614688 PONTINE TEGMENTAL CAP DYSPLASIA; PTCD
Number Sign 614689 SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS SOLUBLE IL6R, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS
Asterisk 614690 CHROMOSOME 4 OPEN READING FRAME 48; C4ORF48
Number Sign 614691 CATARACT 38; CTRCT38 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5; CATC5
Percent 614692 MEMBRANOUS NEPHROPATHY, SUSCEPTIBILITY TO; MBNP
Asterisk 614693 ATM INTERACTOR; ATMIN ATM SUBSTRATE CHK2-INTERACTING ZINC FINGER PROTEIN; ASCIZ;; KIAA0431
Asterisk 614694 REGULATION OF NUCLEAR PRE-mRNA DOMAIN-CONTAINING PROTEIN 1B; RPRD1B CELL CYCLE-RELATED AND EXPRESSION-ELEVATED PROTEIN IN TUMOR; CREPT
Asterisk 614695 REGULATION OF NUCLEAR PRE-mRNA DOMAIN-CONTAINING 2; RPRD2
Number Sign 614696 AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17 AMYOTROPHIC LATERAL SCLEROSIS, CHMP2B-RELATED
Asterisk 614697 KATANIN, p60 SUBUNIT, A-LIKE PROTEIN 2; KATNAL2 KATNA-LIKE 2
Asterisk 614698 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX20; COX20 COX20, S. CEREVISIAE, HOMOLOG OF;; COX2 CHAPERONE COX20;; FAMILY WITH SEQUENCE SIMILARITY 36, MEMBER A; FAM36A
Number Sign 614699 IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7
Number Sign 614700 IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8
Number Sign 614701 CORNELIA DE LANGE SYNDROME 4; CDLS4
Number Sign 614702 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS
Asterisk 614703 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2B; SRGAP2B
Asterisk 614704 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2C; SRGAP2C
Asterisk 614705 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2D; SRGAP2D
Number Sign 614706 CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11
Number Sign 614707 BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2
Asterisk 614708 SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN 3; SCUBE3
Asterisk 614709 LYR MOTIF-CONTAINING PROTEIN 1; LYRM1
Asterisk 614710 FAMILY WITH SEQUENCE SIMILARITY 72, MEMBER A; FAM72A LATENT MEMBRANE PROTEIN 1-INDUCED PROTEIN; LMPIP;; LMP1-INDUCED PROTEIN;; UGENE
Asterisk 614711 FAMILY WITH SEQUENCE SIMILARITY 72, MEMBER B; FAM72B
Asterisk 614712 FAMILY WITH SEQUENCE SIMILARITY 72, MEMBER D; FAM72D
Asterisk 614713 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 10; RASSF10
Number Sign 614714 POROKERATOSIS 7, MULTIPLE TYPES; POROK7
Asterisk 614715 TRANSMEMBRANE AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 2; TMIGD2 IMMUNOGLOBULIN AND PROLINE-RICH RECEPTOR 1; IGPR1;; CD28 HOMOLOG; CD28H
Asterisk 614716 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 16B; LRRC16B
Asterisk 614717 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 15; ANAPC15 APC15
Asterisk 614718 KINETOCHORE-LOCALIZED ASTRIN/SPAG5-BINDING PROTEIN; KNSTRN SMALL KINETOCHORE-ASSOCIATED PROTEIN; SKAP;; CHROMOSOME 15 OPEN READING FRAME 23; C15ORF23
Asterisk 614719 POTASSIUM CHANNEL MODULATORY FACTOR 1; KCMF1 DIFFERENTIALLY EXPRESSED IN BRANCHING TUBULOGENESIS 91; DEBT91;; BASIC FIBROBLAST GROWTH FACTOR-INDUCED GENE IN GASTRIC CANCER; FIGC
Asterisk 614720 CYCLIN-DEPENDENT KINASE 19; CDK19 KIAA1028
Asterisk 614721 TSPY-LIKE 5; TSPYL5 KIAA1750
Asterisk 614722 MICRO RNA 3120; MIR3120 miRNA3120;; MIR3120-5p MICRO RNA 3120-3p, INCLUDED; MIR3120-3p, INCLUDED
Number Sign 614723 ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD APRT DEFICIENCY;; UROLITHIASIS, 2,8-DIHYDROXYADENINE;; UROLITHIASIS, DHA;; NEPHROLITHIASIS, DHA
Asterisk 614724 CENTROSOMAL PROTEIN, 63-KD; CEP63
Asterisk 614725 SERINE ACTIVE SITE-CONTAINING PROTEIN 1; SERAC1
Asterisk 614726 TRANSMEMBRANE PROTEIN 165; TMEM165 FT27
Number Sign 614727 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K CDG IIk; CDGIIk
Number Sign 614728 SECKEL SYNDROME 6; SCKL6
Asterisk 614729 COP9 SIGNALOSOME, SUBUNIT 6; COPS6 CSN6;; MOV34 FAMILY, 34-KD MEMBER
Asterisk 614730 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS O PROTEIN; PIGO
Number Sign 614731 PROSTATE CANCER, HEREDITARY, 2; HPC2
Number Sign 614732 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES IMAGE SYNDROME
Asterisk 614733 MICRO RNA 193A; MIR193A miRNA193A
Asterisk 614734 MICRO RNA 193B; MIR193B miRNA193B
Asterisk 614735 MICRO RNA 365A; MIR365A MIR365-1;; MIR365;; miRNA365A
Number Sign 614736 GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4
Asterisk 614737 BRAIN PROTEIN 44; BRP44 MITOCHONDRIAL PYRUVATE CARRIER 2; MPC2;; PYRUVATE CARRIER, MITOCHONDRIAL, 2
Asterisk 614738 BRAIN PROTEIN 44-LIKE; BRP44L MITOCHONDRIAL PYRUVATE CARRIER 1; MPC1;; PYRUVATE CARRIER, MITOCHONDRIAL, 1
Number Sign 614739 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL 3-METHYLGLUTACONIC ACIDURIA WITH DYSTONIA-DEAFNESS, HEPATOPATHY, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDHEL;; 3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MGCA6
Number Sign 614740 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7
Number Sign 614741 MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY; MPYCD
Number Sign 614742 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1
Number Sign 614743 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2; PFBMFT2
Number Sign 614744 FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3
Number Sign 614745 BLOOD GROUP, JOHN MILTON HAGEN SYSTEM; JMH JOHN MILTON HAGEN BLOOD GROUP SYSTEM;; JMH BLOOD GROUP SYSTEM
Percent 614746 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 5; UAQTL5
Percent 614747 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 6; UAQTL6
Number Sign 614748 INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL; ILNEB
Number Sign 614749 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6; GPIBD6
Number Sign 614750 MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; CMSTA2
Number Sign 614751 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B HMN VB;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; DHMN5B;; DHMN VB;; SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VB; DSMAVB
Number Sign 614752 INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS IL6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS
Number Sign 614753 SOTOS SYNDROME 2; SOTOS2 MALAN SYNDROME
Asterisk 614754 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 3; DMRT3 DMRTA3
Asterisk 614755 MICRO RNA 520H; MIR520H miRNA520H
Number Sign 614756 CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR
Asterisk 614757 INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 5; IFITM5 BONE-RESTRICTED IFITM-LIKE PROTEIN 5; BRIL;; FRAGILIS 4, MOUSE, HOMOLOG OF
Asterisk 614758 DYNACTIN 4; DCTN4 DYN4;; DYNACTIN, 62-KD SUBUNIT;; p62
Asterisk 614759 COILED-COIL DOMAIN-CONTAINING PROTEIN 11; CCDC11
Asterisk 614760 PQ LOOP REPEAT-CONTAINING PROTEIN 2; PQLC2
Asterisk 614761 GLYCINE N-ACYLTRANSFERASE-LIKE 1; GLYATL1
Asterisk 614762 GLYCINE N-ACYLTRANSFERASE-LIKE 2; GLYATL2
Asterisk 614763 GLYCINE N-ACYLTRANSFERASE-LIKE 3; GLYATL3
Asterisk 614764 KATANIN, p60 SUBUNIT, A-LIKE 1; KATNAL1
Asterisk 614765 STRIATIN, CALMODULIN-BINDING PROTEIN; STRN
Asterisk 614766 STRIATIN, CALMODULIN-BINDING PROTEIN 3; STRN3 S/G2 NUCLEAR ANTIGEN; SG2NA
Asterisk 614767 STRIATIN, CALMODULIN-BINDING PROTEIN 4; STRN4 ZINEDIN; ZIN
Asterisk 614768 TRANSMEMBRANE PROTEIN 66; TMEM66 SOCE-ASSOCIATED REGULATORY FACTOR; SARAF
Asterisk 614769 CYTOCHROME C OXIDASE ASSEMBLY FACTOR 1, S. CEREVISIAE, HOMOLOG OF; COA1 CHROMOSOME 7 OPEN READING FRAME 44; C7ORF44;; MITOCHONDRIAL TRANSLATION REGULATION ASSEMBLY INTERMEDIATE OF CYTOCHROME c OXIDASE 15; MITRAC15
Asterisk 614770 PET100, S. CEREVISIAE, HOMOLOG OF; PET100 CHROMOSOME 19 OPEN READING FRAME 79; C19ORF79
Asterisk 614771 PET117, S. CEREVISIAE, HOMOLOG OF; PET117
Asterisk 614772 CYTOCHROME c OXIDASE ASSEMBLY FACTOR 6; COA6 CHROMOSOME 1 OPEN READING FRAME 31; C1ORF31
Asterisk 614773 MSS51 MITOCHONDRIAL TRANSLATIONAL ACTIVATOR, S. CEREVISIAE, HOMOLOG OF; MSS51 ZINC FINGER MYND DOMAIN-CONTAINING 17; ZMYND17
Asterisk 614774 PENTATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 1; PTCD1 KIAA0632
Asterisk 614775 CYTOCHROME C OXIDASE ASSEMBLY FACTOR 3; COA3 COILED-COIL DOMAIN-CONTAINING PROTEIN 56; CCDC56;; MITOCHONDRIAL TRANSLATION REGULATION ASSEMBLY INTERMEDIATE OF CYTOCHROME c OXIDASE 12; MITRAC12
Asterisk 614776 SIK FAMILY KINASE 3; SIK3 SALT-INDUCIBLE KINASE 3;; KIAA0999
Asterisk 614777 MMS19 NUCLEOTIDE EXCISION REPAIR, S. CEREVISIAE, HOMOLOG OF; MMS19 MMS19-LIKE PROTEIN; MMS19L
Asterisk 614778 FAMILY WITH SEQUENCE SIMILARITY 96, MEMBER B; FAM96B MSS19-INTERACTING PROTEIN OF 18 KD; MIP18
Number Sign 614779 HETEROTAXY, VISCERAL, 6, AUTOSOMAL; HTX6
Asterisk 614780 SORTING NEXIN 10; SNX10
Asterisk 614781 TECTONIN BETA-PROPELLER REPEAT-CONTAINING 1; TECPR1 KIAA1358
Number Sign 614782 TREMOR, HEREDITARY ESSENTIAL, 4; ETM4
Asterisk 614783 POC1 CENTRIOLAR PROTEIN, CHLAMYDOMONAS, HOMOLOG OF, A; POC1A PIX2;; PROTEOME OF CENTRIOLE 1A
Asterisk 614784 POC1 CENTRIOLAR PROTEIN, CHLAMYDOMONAS, HOMOLOG OF, B; POC1B PIX1;; PROTEOME OF THE CENTRIOLE 1B
Asterisk 614785 MITOCHONDRIAL FISSION FACTOR; MFF CHROMOSOME 2 OPEN READING FRAME 33; C2ORF33
Asterisk 614786 TRANSMEMBRANE PROTEIN 207; TMEM207
Asterisk 614787 POGO TRANSPOSABLE ELEMENT WITH ZNF DOMAIN; POGZ KIAA0461
Asterisk 614788 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 5; FGD5
Asterisk 614789 EGF DOMAIN-SPECIFIC O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; EOGT EOGT1;; CHROMOSOME 3 OPEN READING FRAME 64; C3ORF64
Asterisk 614790 WT1-INTERACTING PROTEIN; WTIP
Asterisk 614791 MICRO RNA 199B; MIR199B miRNA199B;; MIRN199B
Asterisk 614792 TRANSMEMBRANE AND UBIQUITIN-LIKE DOMAIN-CONTAINING PROTEIN 1; TMUB1 DENDRITIC CELL-DERIVED UBIQUITIN-LIKE PROTEIN; DULP;; SB144;; C7ORF21
Asterisk 614793 MIXED-LINEAGE KINASE 4 MLK4;; KIAA1804
Asterisk 614794 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 3; AGPAT3 1-ACYL-sn-GLYCEROL 3-PHOSPHATE ACYLTRANSFERASE 3;; LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE, GAMMA;; LPAAT-GAMMA;; LPAAT3
Asterisk 614795 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 4; AGPAT4 1-ACYL-sn-GLYCEROL 3-PHOSPHATE ACYLTRANSFERASE 4;; LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE, DELTA;; LPAAT-DELTA
Asterisk 614796 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 5; AGPAT5 1-ACYL-sn-GLYCEROL 3-PHOSPHATE ACYLTRANSFERASE 5;; LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE, EPSILON;; LPAAT-EPSILON
Asterisk 614797 PELLINO, DROSOPHILA, HOMOLOG OF, 1; PELI1
Asterisk 614798 PELLINO, DROSOPHILA, HOMOLOG OF, 2; PELI2
Asterisk 614799 CHROMOSOME 1 OPEN READING FRAME 109; C1ORF109
Number Sign 614800 SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY; SOPH
Asterisk 614801 MALE-SPECIFIC LETHAL 1, DROSOPHILA, HOMOLOG OF; MSL1
Asterisk 614802 MALE-SPECIFIC LETHAL 2, DROSOPHILA, HOMOLOG OF; MSL2 KIAA1585
Asterisk 614803 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR A1; DMRTA1 DMRT4
Asterisk 614804 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR A2; DMRTA2
Asterisk 614805 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR B1; DMRTB1
Asterisk 614806 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR C2; DMRTC2
Number Sign 614807 MYOPATHY, CENTRONUCLEAR, 4; CNM4
Number Sign 614808 AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18
Number Sign 614809 CFHR5 DEFICIENCY
Number Sign 614810 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 5; MS5
Asterisk 614811 L-3-HYDROXYPROLINE DEHYDRATASE, TRANS; L3HYPDH TRANS-3-HYDROXYL-L-PROLINE DEHYDRATASE;; CHROMOSOME 14 OPEN READING FRAME 149; C14ORF149
Asterisk 614812 NUCLEAR PROTEIN, TRANSCRIPTIONAL REGULATOR, 1; NUPR1 CANDIDATE OF METASTASIS 1; COM1;; p8
Number Sign 614813 SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS; SOFT SOFT SYNDROME
Number Sign 614814 ADAMS-OLIVER SYNDROME 3; AOS3
Number Sign 614815 JOUBERT SYNDROME 18; JBTS18
Number Sign 614816 LOEYS-DIETZ SYNDROME 4; LDS4 ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
Number Sign 614817 INTERSTITIAL NEPHRITIS, KARYOMEGALIC; KMIN
Asterisk 614818 FURRY, DROSOPHILA, HOMOLOG OF; FRY CHROMOSOME 13 OPEN READING FRAME 14; C13ORF14
Number Sign 614819 WEILL-MARCHESANI SYNDROME 3; WMS3
Number Sign 614820 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2
Asterisk 614821 PTCSC3 GENE; PTCSC3
Number Sign 614822 SPERMATOGENIC FAILURE 10; SPGF10 SPERMATOGENIC FAILURE WITH DEFECTIVE SPERM ANNULUS
Number Sign 614823 AORTIC VALVE DISEASE 2; AOVD2 BICUSPID AORTIC VALVE;; AORTIC VALVE STENOSIS
Asterisk 614824 ADAPTOR-RELATED PROTEIN COMPLEX 5, SIGMA-1 SUBUNIT; AP5S1 CHROMOSOME 20 OPEN READING FRAME 29; C20ORF29;; SIGMA 5
Asterisk 614825 RALBP1-ASSOCIATED EPS DOMAIN-CONTAINING PROTEIN 1; REPS1
Percent 614826 NYSTAGMUS 7, CONGENITAL, AUTOSOMAL DOMINANT; NYS7
Asterisk 614827 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 11; DNAJC11
Asterisk 614828 PROTEIN O-MANNOSE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE 2; POMGNT2 GLYCOSYLTRANSFERASE-LIKE DOMAIN-CONTAINING PROTEIN 2; GTDC2;; CHROMOSOME 3 OPEN READING FRAME 39; C3ORF39;; AGO61
Asterisk 614829 ODONTOGENESIS-ASSOCIATED PHOSPHOPROTEIN; ODAPH CHROMOSOME 4 OPEN READING FRAME 26; C4ORF26
Number Sign 614830 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED
Number Sign 614831 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13
Number Sign 614832 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4; AI2A4
Number Sign 614833 MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP POLYMICROGYRIA WITH SEIZURES; PMGYS
Percent 614834 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 3; TTPP3
Asterisk 614835 ACTIN, BETA-LIKE, 2; ACTBL2
Percent 614836 HUMAN HERPESVIRUS 8, SUSCEPTIBILITY TO; HHV8S HHV-8, SUSCEPTIBILITY TO
Number Sign 614837 HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8
Number Sign 614838 HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA; HH9
Number Sign 614839 HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA; HH10
Number Sign 614840 HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11
Number Sign 614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12 EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC;; GONADOTROPIN DEFICIENCY, FAMILIAL IDIOPATHIC; FIGD
Number Sign 614842 HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA; HH13
Asterisk 614843 ODONTOGENIC AMELOBLAST-ASSOCIATED PROTEIN; ODAM APIN
Number Sign 614844 NEPHRONOPHTHISIS 14; NPHP14 JOUBERT SYNDROME 19, INCLUDED; JBTS19, INCLUDED
Number Sign 614845 NEPHRONOPHTHISIS 15; NPHP15
Number Sign 614846 TETRASOMY 15q26 LEVY-SHANSKE SYNDROME
Number Sign 614847 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12
Asterisk 614848 CENTROSOMAL PROTEIN, 164-KD; CEP164 KIAA1052
Number Sign 614849 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5; IIAE5 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 3
Number Sign 614850 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6; IIAE6 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4
Number Sign 614851 SECKEL SYNDROME 7; SCKL7
Number Sign 614852 MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE; MCPH9
Asterisk 614853 CYTOKINE RECEPTOR-LIKE FACTOR 3; CRLF3 CYTOKINE RECEPTOR-RELATED PROTEIN 4; CYTOR4;; CYTOKINE RECEPTOR-LIKE MOLECULE 9; CRLM9;; CREME9
Asterisk 614854 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 59; LRRC59 p34
Asterisk 614855 TBC1 DOMAIN FAMILY, MEMBER 14; TBC1D14 KIAA1322
Number Sign 614856 OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13 OI, TYPE XIII
Number Sign 614857 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE; MAHCJ
Number Sign 614858 HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA; HH14
Number Sign 614859 PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3, INCLUDED; CG3, INCLUDED
Number Sign 614860 DYSTONIA 23; DYT23
Number Sign 614861 DEAFNESS, AUTOSOMAL RECESSIVE 98; DFNB98
Number Sign 614862 PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 4, INCLUDED; CG4, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 6, INCLUDED; CG6, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP C, INCLUDED; CGC, INCLUDED
Number Sign 614863 PEROXISOME BIOGENESIS DISORDER 4B; PBD4B
Asterisk 614864 DYNEIN AXONEMAL ASSEMBLY FACTOR 5; DNAAF5 HEAT REPEAT-CONTAINING PROTEIN 2; HEATR2
Asterisk 614865 D4Z4 BINDING ELEMENT TRANSCRIPT, NONCODING; DBET DBE TRANSCRIPT, NONCODING
Number Sign 614866 PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5, INCLUDED; CG5, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10, INCLUDED; CG10, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F, INCLUDED; CGF, INCLUDED
Number Sign 614867 PEROXISOME BIOGENESIS DISORDER 5B; PBD5B
Number Sign 614868 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS; TIIAC STK4 DEFICIENCY;; MST1 DEFICIENCY
Number Sign 614869 USHER SYNDROME, TYPE IJ; USH1J
Number Sign 614870 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 7, INCLUDED; CG7, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP B, INCLUDED; CGB, INCLUDED
Number Sign 614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B
Number Sign 614872 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8, INCLUDED; CG8, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A, INCLUDED; CGA, INCLUDED
Number Sign 614873 PEROXISOME BIOGENESIS DISORDER 7B; PBD7B
Number Sign 614874 CILIARY DYSKINESIA, PRIMARY, 18; CILD18 CILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS
Percent 614875 METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA SPONDYLOENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA;; METAPHYSEAL ENCHONDRODYSPLASIA WITH 2-HYDROXYGLUTARIC ACIDURIA;; METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
Number Sign 614876 PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 9, INCLUDED; CG9, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP D, INCLUDED; CGD, INCLUDED
Number Sign 614877 PEROXISOME BIOGENESIS DISORDER 8B; PBD8B
Number Sign 614878 AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; APLAID
Number Sign 614879 PEROXISOME BIOGENESIS DISORDER 9B; PBD9B REFSUM DISEASE, ADULT, 2;; PEROXISOME BIOGENESIS DISORDER, PEX7-RELATED, ATYPICAL PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 11, INCLUDED; CG11, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP R, INCLUDED; CGR, INCLUDED
Number Sign 614880 HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA; HH15
Number Sign 614881 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5; DSMA5
Number Sign 614882 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 12, INCLUDED; CG12, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP G, INCLUDED; CGG, INCLUDED
Number Sign 614883 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 13, INCLUDED; CG13, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP H, INCLUDED; CGH, INCLUDED
Asterisk 614884 VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 3B; VWA3B VWA DOMAIN-CONTAINING PROTEIN 3B
Number Sign 614885 PEROXISOME BIOGENESIS DISORDER 11B; PBD11B
Number Sign 614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 14, INCLUDED;; CG14, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP J, INCLUDED;; CGJ, INCLUDED
Number Sign 614887 PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP K, INCLUDED; CGK, INCLUDED
Asterisk 614888 ALPHA- AND GAMMA-ADAPTIN-BINDING PROTEIN; AAGAB p34
Number Sign 614889 IMMUNODEFICIENCY 28; IMD28 IMMUNODEFICIENCY 28, MYCOBACTERIOSIS;; IFNGR2 DEFICIENCY
Number Sign 614890 IMMUNODEFICIENCY 29; IMD29 IL12B DEFICIENCY
Number Sign 614891 IMMUNODEFICIENCY 30; IMD30 IL12RB1 DEFICIENCY
Number Sign 614892 IMMUNODEFICIENCY 31A; IMD31A IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT;; STAT1 DEFICIENCY, AUTOSOMAL DOMINANT
Number Sign 614893 IMMUNODEFICIENCY 32A; IMD32A IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT;; IRF8 DEFICIENCY, AUTOSOMAL DOMINANT;; CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL DOMINANT
Number Sign 614894 IMMUNODEFICIENCY 32B; IMD32B IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE;; IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE;; MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE
Number Sign 614895 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F
Number Sign 614896 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD
Number Sign 614897 HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16
Number Sign 614898 SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53
Number Sign 614899 DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93
Number Sign 614900 DIAMOND-BLACKFAN ANEMIA 11; DBA11
Asterisk 614901 BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE KINASE; BCKDK BCKDH KINASE; BDK;; BCKD KINASE
Asterisk 614902 RHO GTPase-ACTIVATING PROTEIN 33; ARHGAP33 TC10/CDC42 GTPase-ACTIVATING PROTEIN; TCGAP
Asterisk 614903 SORTING NEXIN 16; SNX16
Asterisk 614904 SORTING NEXIN 7; SNX7
Asterisk 614905 SORTING NEXIN 8; SNX8
Asterisk 614906 SORTING NEXIN 11; SNX11
Asterisk 614907 PRECURSOR mRNA-PROCESSING FACTOR 39, S. CEREVISIAE, HOMOLOG OF; PRPF39
Asterisk 614908 HEAT SHOCK PROTEIN NUCLEAR IMPORT FACTOR HIKESHI; HIKESHI CHROMOSOME 11 OPEN READING FRAME 73; C11ORF73
Asterisk 614909 TRANSMEMBRANE PROTEIN 174; TMEM174
Asterisk 614910 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 6; C1QTNF6 CTRP6
Asterisk 614911 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 4; C1QTNF4 CTRP4
Asterisk 614912 TRAB DOMAIN-CONTAINING PROTEIN 2A; TRABD2A TIKI1
Asterisk 614913 TRAB DOMAIN-CONTAINING PROTEIN 2B; TRABD2B TIKI2
Asterisk 614914 MICRO RNA 298; MIR298 miRNA298
Number Sign 614915 LETHAL CONGENITAL CONTRACTURE SYNDROME 4; LCCS4
Number Sign 614916 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4
Asterisk 614917 REQUIRED FOR MEIOTIC NUCLEAR DIVISION 1, S. CEREVISIAE, HOMOLOG OF; RMND1
Asterisk 614918 PENTATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 3; PTCD3
Asterisk 614919 NITRIC OXIDE-ASSOCIATED PROTEIN 1; NOA1 CHROMOSOME 4 OPEN READING FRAME 14; C4ORF14
Number Sign 614920 PEROXISOME BIOGENESIS DISORDER 14B; PEX14B
Number Sign 614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T CDG It; CDGIt;; PHOSPHOGLUCOMUTASE 1 DEFICIENCY;; PGM1 DEFICIENCY;; GLYCOGEN STORAGE DISEASE XIV; GSD14;; GSD XIV
Number Sign 614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11 ENCEPHALONEUROMYOPATHY, INFANTILE, DUE TO MITOCHONDRIAL TRANSLATION DEFECT
Number Sign 614923 BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD BCKDK DEFICIENCY
Number Sign 614924 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12 LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE; LTBL
Asterisk 614925 OTOGELIN-LIKE PROTEIN; OTOGL CHROMOSOME 12 OPEN READING FRAME 64; C12ORF64
Number Sign 614926 PERRAULT SYNDROME 2; PRLTS2
Percent 614927 ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE; ECTD5
Percent 614928 ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE; ECTD6
Number Sign 614929 ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7
Asterisk 614930 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 6; LRRC6 LEUCINE-RICH TESTIS PROTEIN; LRTP
Number Sign 614931 ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9
Number Sign 614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13
Asterisk 614933 LONG INTERGENIC NONCODING RNA, MUSCLE DIFFERENTIATION 1; LINCMD1
Number Sign 614934 DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70
Number Sign 614935 CILIARY DYSKINESIA, PRIMARY, 19; CILD19 CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS
Percent 614936 PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IB; PPKP1B
Number Sign 614937 MYOCLONUS, FAMILIAL CORTICAL; FCM
Asterisk 614938 VAULT RNA 2-1; VTRNA2-1 VTRNA2;; NONCODING RNA 886; NC886;; PRECURSOR MICRO RNA 886;; PRE-MIR886;; CORD BLOOD LYMPHOCYTE-DERIVED NONCODING RNA 3; CBL3
Asterisk 614939 PHOSPHOGLYCERATE MUTASE FAMILY, MEMBER 5; PGAM5
Number Sign 614940 ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT; ECTD11A ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED
Number Sign 614941 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B ECTODERMAL DYSPLASIA, HYPOHIDROTIC; HED;; ECTODERMAL DYSPLASIA, ANHIDROTIC; EDA
Asterisk 614942 PHOSPHATIDYLGLYCEROPHOSPHATE SYNTHASE 1; PGS1 PGP SYNTHASE
Asterisk 614943 TP53-REGULATED INHIBITOR OF APOPTOSIS 1; TRIAP1 p53-INDUCIBLE CELL SURVIVAL FACTOR; P53CSV;; HSPC132
Number Sign 614944 DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B
Number Sign 614945 DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B
Number Sign 614946 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14
Number Sign 614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15
Asterisk 614948 TRANSLOCATOR ASSEMBLY AND MAINTENANCE, MITOCHONDRIAL, S. CEREVISIAE, HOMOLOG OF; TAMM41 TAM41;; CHROMOSOME 3 OPEN READING FRAME 31; C3ORF31
Asterisk 614949 TRANSMEMBRANE PROTEIN 231; TMEM231
Asterisk 614950 TRANSMEMBRANE PROTEIN 17; TMEM17
Asterisk 614951 HEAT REPEAT-CONTAINING PROTEIN 3; HEATR3 SYNCHRONIZED IMPORT PROTEIN 1; SYO1;; SYMPORTIN
Asterisk 614952 SCHLAFEN FAMILY, MEMBER 5; SLFN5
Asterisk 614953 SCHLAFEN FAMILY, MEMBER 11; SLFN11
Percent 614954 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 3; CHTD3 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, WITH CARDIAC RHYTHM AND CONDUCTION DISTURBANCES
Asterisk 614955 SCHLAFEN FAMILY, MEMBER 12; SLFN12
Asterisk 614956 SCHLAFEN FAMILY, MEMBER 12-LIKE; SLFN12L SLFN12-LIKE
Asterisk 614957 SCHLAFEN FAMILY, MEMBER 13; SLFN13
Asterisk 614958 SCHLAFEN FAMILY, MEMBER 14; SLFN14
Number Sign 614959 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14
Asterisk 614960 PHOSPHOLIPASE D FAMILY, MEMBER 6; PLD6 MITOCHONDRIAL PHOSPHOLIPASE; MITOPLD;; ZUCCHINI, DROSOPHILA, HOMOLOG OF; ZUC
Number Sign 614961 PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8
Number Sign 614962 LEPTIN DEFICIENCY OR DYSFUNCTION; LEPD OBESITY, MORBID, NONSYNDROMIC 1
Number Sign 614963 LEPTIN RECEPTOR DEFICIENCY OBESITY, MORBID, NONSYNDROMIC 2
Asterisk 614964 EXTRACELLULAR LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 1; ELFN1 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 28; PPP1R28
Asterisk 614965 SECERNIN 1; SCRN1 SES1;; KIAA0193
Asterisk 614966 SECERNIN 2; SCRN2 SES2
Asterisk 614967 SECERNIN 3; SCRN3 SES3
Asterisk 614968 SH2 DOMAIN-CONTAINING PROTEIN 4A; SH2D4A SH2A;; PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 38; PPP1R38
Number Sign 614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7
Number Sign 614970 JOUBERT SYNDROME 20; JBTS20
Asterisk 614971 TAURINE-UPREGULATED GENE 1, NONCODING; TUG1
Number Sign 614972 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3; ICP3
Percent 614973 FOCAL FACIAL DERMAL DYSPLASIA 2, BRAUER-SETLEIS TYPE; FFDD2 BRAUER-SETLEIS SYNDROME
Number Sign 614974 FOCAL FACIAL DERMAL DYSPLASIA 4; FFDD4
Asterisk 614975 FOXF1 ADJACENT NONCODING DEVELOPMENTAL REGULATORY RNA; FENDRR FOXF1 ANTISENSE RNA 1, NONCODING; FOXF1AS1;; FOXF1 LONG INTERGENIC NONCODING RNA;; lincFOXF1;; lncFOXF1;; TCONS_00024240
Number Sign 614976 CARPENTER SYNDROME 2; CRPT2
Asterisk 614977 LONG INTERGENIC NONCODING RNA 1081; LINC01081 LONG NONCODING RNA TCONS_00024764;; lncRNA TCONS_00024764;; TCONS_00024764
Asterisk 614978 LONG INTERGENIC NONCODING RNA 1082; LINC01082 LONG NONCODING RNA TCONS_00024492;; lncRNA TCONS_00024492;; TCONS_00024492
Percent 614979 SPLENOMEGALY, CYTOPENIA, AND VISION LOSS
Number Sign 614980 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2
Asterisk 614981 ATPase INHIBITORY FACTOR 1; ATPIF1 IF1
Asterisk 614982 STRUCTURAL MAINTENANCE OF CHROMOSOMES FLEXIBLE HINGE DOMAIN-CONTAINING PROTEIN 1; SMCHD1 SMC HINGE DOMAIN-CONTAINING PROTEIN 1;; KIAA0650
Asterisk 614983 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR, ATF-LIKE 2; BATF2 SUPPRESSOR OF ACTIVATOR PROTEIN 1, REGULATED BY INTERFERON; SARI;; SUPPRESSOR OF AP1, REGULATED BY IFN
Asterisk 614984 DEHYDROGENASE E1 AND TRANSKETOLASE DOMAINS-CONTAINING PROTEIN 1; DHTKD1 KIAA1630
Asterisk 614985 HELLP SYNDROME-ASSOCIATED LONG NONCODING RNA; HELLPAR lncRNA HELLP; lncHELLP;; HELLP SYNDROME-ASSOCIATED LONG INTERGENIC NONCODING RNA;; lincRNA HELLP; lincHELLP
Asterisk 614986 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II INHIBITOR 1; CAMK2N1 CAMKII INHIBITORY PROTEIN, ALPHA;; CAMKIIN-ALPHA
Asterisk 614987 EPS8-LIKE PROTEIN 1; EPS8L1 EPS8-RELATED PROTEIN 1; EPS8R1
Asterisk 614988 EPS8-LIKE PROTEIN 2; EPS8L2 EPS8-RELATED PROTEIN 2; EPS8R2
Asterisk 614989 EPS8-LIKE PROTEIN 3; EPS8L3 EPS8-RELATED PROTEIN 3; EPS8R3
Percent 614990 USHER SYNDROME, TYPE IK; USH1K
Asterisk 614991 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1, ANTISENSE; UCH1LAS UCH1L, ANTISENSE
Asterisk 614992 LONG INTERGENIC NONCODING RNA 237; LINC00237 lincRNA 237
Asterisk 614993 CAM KINASE-LIKE VESICLE-ASSOCIATED; CAMKV 1G5
Asterisk 614994 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IG; CAMK1G CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I-GAMMA;; CAMKI-GAMMA;; CAMK-LIKE CREB KINASE III; CLICK3
Asterisk 614995 INTERLEUKIN 17 RECEPTOR E; IL17RE
Asterisk 614996 MYELINATING SCHWANN CELL ELEMENT; MSE
Asterisk 614997 GATA ZINC FINGER DOMAIN-CONTAINING PROTEIN 2A; GATAD2A p66-ALPHA
Asterisk 614998 GATA ZINC FINGER DOMAIN-CONTAINING PROTEIN 2B; GATAD2B p66;; p68;; p66-BETA;; KIAA1150
Asterisk 614999 CYTOCHROME P450, FAMILY 4, SUBFAMILY X, POLYPEPTIDE 1; CYP4X1 CYPIVX1
Asterisk 615000 TECTONIN BETA-PROPELLER REPEAT-CONTAINING PROTEIN 2; TECPR2 KIAA0329
Asterisk 615001 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12C; ZC3H12C MCP1-INDUCED PROTEIN 3; MCPIP3
Asterisk 615002 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE KINASE 2, BETA; CAMKK2 CAMKK-BETA; CAMKKB;; KIAA0787
Asterisk 615003 DDHD DOMAIN-CONTAINING PROTEIN 2; DDHD2 KIAA0725
Asterisk 615004 LEUCINE-RICH REPEAT, IMMUNOGLOBULIN-LIKE, AND TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 3; LRIT3 FIGLER4
Number Sign 615005 EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5
Number Sign 615006 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15
Number Sign 615007 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4
Number Sign 615008 NEPHROTIC SYNDROME, TYPE 7; NPHS7 NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7, INCLUDED; AHUS7, INCLUDED;; AHUS, SUSCEPTIBILITY TO, 7, INCLUDED
Number Sign 615009 SCHUURS-HOEIJMAKERS SYNDROME; SHMS MENTAL RETARDATION, AUTOSOMAL DOMINANT 17; MRD17
Number Sign 615010 AICARDI-GOUTIERES SYNDROME 6; AGS6
Number Sign 615011 PHOSPHOHYDROXYLYSINURIA; PHLU
Asterisk 615012 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER G; HIST1H2AG HISTONE GENE CLUSTER 1, H2AG;; HIST1 CLUSTER, H2AG;; H2A HISTONE FAMILY, MEMBER P; H2AFP;; H2A/P
Asterisk 615013 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER H; HIST1H2AH HISTONE GENE CLUSTER 1, H2AH;; HIST1 CLUSTER, H2AH;; H2A/S
Asterisk 615014 HISTONE GENE CLUSTER 2, H2A HISTONE FAMILY, MEMBER B; HIST2H2AB HISTONE GENE CLUSTER 2, H2AB;; HIST2 CLUSTER, H2AB
Asterisk 615015 HISTONE GENE CLUSTER 3, H2A HISTONE; HIST3H2A HISTONE GENE CLUSTER 3, H2A;; HIST3 CLUSTER, H2A
Asterisk 615016 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY J, MEMBER 3; OR2J3
Asterisk 615017 MICRO RNA 139; MIR139 miRNA139;; MIR139-5p MICRO RNA 139-3p, INCLUDED; MIR139-3p, INCLUDED
Asterisk 615019 ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 5; ELP5 DERMAL PAPILLA-DERIVED PROTEIN 6; DERP6;; CHROMOSOME 17 OPEN READING FRAME 81; C17ORF81
Asterisk 615020 ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 6; ELP6 TRANSMEMBRANE PROTEIN 103; TMEM103;; CHROMOSOME 3 OPEN READING FRAME 75; C3ORF75
Number Sign 615021 BLOOD GROUP, GLOBOSIDE SYSTEM; GLOB
Percent 615022 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 7; ARCI7
Number Sign 615023 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9; ARCI9
Number Sign 615024 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10; ARCI10
Number Sign 615025 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q; CMT2Q CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Q
Number Sign 615026 RIBOFLAVIN DEFICIENCY; RBFVD
Asterisk 615027 SIN3-HDAC COMPLEX ASSOCIATED FACTOR; SINHCAF FAMILY WITH SEQUENCE SIMILARITY 60, MEMBER A; FAM60A
Number Sign 615028 EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE; EBNS
Asterisk 615029 PRECEREBELLIN 4; CBLN4
Number Sign 615030 SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56
Number Sign 615031 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49
Number Sign 615032 AUTISM, SUSCEPTIBILITY TO, 18; AUTS18
Number Sign 615033 SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54
Number Sign 615034 DYSTONIA 24; DYT24
Number Sign 615035 SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55
Asterisk 615036 MICRO RNA 410; MIR410 miRNA410
Asterisk 615037 MICRO RNA 487B; MIR487B miRNA487B
Asterisk 615038 COILED-COIL DOMAIN-CONTAINING PROTEIN 114: CCDC114
Asterisk 615039 N-DEACETYLASE/N-SULFOTRANSFERASE 4; NDST4 HEPARAN GLUCOSAMINYL N-DEACETYLASE/N-SULFOTRANSFERASE 4;; HEPARAN SULFATE N-DEACETYLASE/N-SULFOTRANSFERASE 4
Number Sign 615040 EPISODIC PAIN SYNDROME, FAMILIAL, 1; FEPS1
Number Sign 615041 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED
Number Sign 615042 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U CDG Iu; CDGIu
Number Sign 615043 SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE; SPG43
Asterisk 615044 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER J; HIST1H2BJ HISTONE GENE CLUSTER 1, H2BJ;; HIST1 CLUSTER, H2BJ
Asterisk 615045 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER K; HIST1H2BK HISTONE GENE CLUSTER 1, H2BK;; HIST1 CLUSTER, H2BK
Asterisk 615046 HISTONE GENE CLUSTER 3, H2B HISTONE FAMILY, MEMBER B; HIST3H2BB HISTONE GENE CLUSTER 3, H2BB;; HIST3 CLUSTER, H2BB
Asterisk 615047 TETRATRICOPEPTIDE REPEAT-, ANKYRIN REPEAT-, AND COILED-COIL-CONTAINING PROTEIN 2; TANC2 KIAA1636
Number Sign 615048 SPINAL MUSCULAR ATROPHY, JOKELA TYPE; SMAJ
Asterisk 615049 WW DOMAIN-CONTAINING ADAPTOR WITH COILED-COIL REGION; WAC KIAA1844
Asterisk 615050 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 5; ASB5
Asterisk 615051 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 6; ASB6
Asterisk 615052 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 7; ASB7
Asterisk 615053 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 8; ASB8
Asterisk 615054 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 10; ASB10
Asterisk 615055 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 13; ASB13
Asterisk 615056 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 16; ASB16
Caret 615057 MOVED TO 244450
Number Sign 615058 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F; CSNB1F
Number Sign 615059 HYPOTRICHOSIS 11; HYPT11
Asterisk 615060 SECRETOGLOBIN, FAMILY 1D, MEMBER 1; SCGB1D1 LIPOPHILIN A; LPNA
Asterisk 615061 SECRETOGLOBIN, FAMILY 1D, MEMBER 2; SCGB1D2 LIPOPHILIN B; LPNB
Asterisk 615062 SECRETOGLOBIN, FAMILY 1D, MEMBER 4; SCGB1D4 INTERFERON-GAMMA-INDUCIBLE SECRETOGLOBIN; IIS
Asterisk 615063 SECRETOGLOBIN, FAMILY 2B, MEMBER 2; SCGB2B2
Asterisk 615064 SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER 29; SLC25A29 CARNITINE-ACYLCARNITINE TRANSLOCASE-LIKE; CACL;; MITOCHONDRIAL ORNITHINE TRANSPORTER 3; ORNT3
Number Sign 615065 ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D
Number Sign 615066 OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 OI, TYPE XIV
Number Sign 615067 CILIARY DYSKINESIA, PRIMARY, 20; CILD20 CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS
Asterisk 615068 ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5, C. ELEGANS, HOMOLOG OF; EPG5 KIAA1632;; HEEW1
Asterisk 615069 HISTONE GENE CLUSTER 4, H4 HISTONE; HIST4H4 HISTONE GENE CLUSTER 4, H4;; HIST4 CLUSTER, H4;; H4/P
Asterisk 615070 MICRO RNA 590; MIR590 miRNA590;; MIRN590
Number Sign 615071 ALAZAMI SYNDROME; ALAZS FACIAL DYSMORPHISM, INTELLECTUAL DISABILITY, AND PRIMORDIAL DWARFISM
Number Sign 615072 BRACHYDACTYLY, TYPE A1, C; BDA1C
Number Sign 615073 DYSTONIA 25; DYT25
Number Sign 615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18
Number Sign 615075 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19
Asterisk 615076 MITOCHONDRIAL GENOME MAINTENANCE EXONUCLEASE 1; MGME1 CHROMOSOME 20 OPEN READING FRAME 72; C20ORF72
Asterisk 615077 TBC1 DOMAIN FAMILY, MEMBER 30; TBC1D30 KIAA0984
Asterisk 615078 GOLGI TRANSPORT 1B; GOLT1B GOT1B;; GERM CELL TUMOR 2; GCT2
Asterisk 615079 ASUNDER, SPERMATOGENESIS REGULATOR; ASUN ASUNDER, DROSOPHILA, HOMOLOG OF;; MAT89BB, DROSOPHILA, HOMOLOG OF; MAT89BB;; GERM CELL TUMOR 1; GCT1
Percent 615080 ALZHEIMER DISEASE 17; AD17 ALZHEIMER DISEASE 17, LATE-ONSET
Number Sign 615081 SPERMATOGENIC FAILURE 11; SPGF11
Number Sign 615082 C3HEX, ABILITY TO SMELL
Number Sign 615083 COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24
Number Sign 615084 MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11
Number Sign 615085 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8
Asterisk 615086 HARBINGER TRANSPOSASE-DERIVED GENE 1; HARBI1
Caret 615087 MOVED TO 613091
Asterisk 615088 AUTOPHAGY 13, S. CEREVISIAE, HOMOLOG OF; ATG13 KIAA0652;; PARAPROTEIN TARGET 8; PARATARG8;; PARATARG 8
Asterisk 615089 AUTOPHAGY-RELATED PROTEIN 101; ATG101 CHROMOSOME 12 OPEN READING FRAME 44; C12ORF44
Asterisk 615090 INTERFERON, LAMBDA-4; IFNL4
Number Sign 615091 AUTISM, SUSCEPTIBILITY TO, 19; AUTS19
Number Sign 615092 LEFT VENTRICULAR NONCOMPACTION 7; LVNC7
Asterisk 615093 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS K; LY6K
Asterisk 615094 PROSPERO-RELATED HOMEOBOX 2; PROX2
Number Sign 615095 MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10
Asterisk 615096 MICRO RNA 217; MIR217 miRNA217
Asterisk 615097 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER 13; SLC6A13 GABA TRANSPORTER 2; GAT2;; GABA TRANSPORTER 3, MOUSE, HOMOLOG OF; GAT3
Asterisk 615098 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 28; TTC28 TPRBK;; KIAA1043
Asterisk 615099 ERYTHROFERRONE; ERFE FAMILY WITH SEQUENCE SIMILARITY 132, MEMBER B; FAM132B;; C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 15; CIQTNF15; CTRP15;; MYONECTIN
Asterisk 615100 CTTNBP2 N TERMINUS-LIKE PROTEIN; CTTNBP2NL
Asterisk 615101 TUBULIN, BETA-2A; TUBB2A TUBULIN, BETA, CLASS IIA
Percent 615102 TYSHCHENKO SYNDROME
Asterisk 615103 TUBULIN, BETA-6; TUBB6 TUBULIN, BETA, CLASS V
Asterisk 615104 NCK-ASSOCIATED PROTEIN 5-LIKE; NCKAP5L NCKAP5-LIKE;; KIAA1602
Asterisk 615105 METHYLTHIORIBOSE-1-PHOSPHATE ISOMERASE, S. CEREVISIAE, HOMOLOG OF; MRI1 MEDIATOR OF RHOA-DEPENDENT INVASION; MRDI
Number Sign 615106 COWDEN SYNDROME 3; CWS3
Number Sign 615107 COWDEN SYNDROME 4; CWS4
Number Sign 615108 COWDEN SYNDROME 5; CWS5
Number Sign 615109 COWDEN SYNDROME 6; CWS6
Asterisk 615110 WD REPEAT-CONTAINING PROTEIN 53; WDR53
Asterisk 615111 DENN/MADD DOMAIN-CONTAINING PROTEIN 2D; DENND2D
Number Sign 615112 UROFACIAL SYNDROME 2; UFS2
Number Sign 615113 MICROPHTHALMIA, ISOLATED 8; MCOP8
Asterisk 615114 ZINC FINGER PROTEIN 516; ZNF516 KIAA0222
Asterisk 615115 ADDITIONAL SEX COMBS-LIKE 3; ASXL3 KIAA1713
Asterisk 615116 SPERMATID MATURATION PROTEIN 1; SPEM1 CHROMOSOME 17 OPEN READING FRAME 83; C17ORF83
Asterisk 615117 CHROMOSOME 2 OPEN READING FRAME 88; C2ORF88 SMALL MEMBRANE PROTEIN KINASE A-ANCHORING PROTEIN; SMAKAP
Caret 615118 MOVED TO 269300
Number Sign 615119 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2; CEMCOX2
Number Sign 615120 MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8 MYASTHENIC SYNDROME, CONGENITAL, WITH PRE- AND POSTSYNAPTIC DEFECTS; CMSPPD;; MYASTHENIC SYNDROME, CONGENITAL, DUE TO AGRIN DEFICIENCY
Percent 615121 STOMATIN-LIKE PROTEIN-2, HYPERPHOSPHORYLATION OF HYPERPHOSPHORYLATED PARATARG-7
Number Sign 615122 LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 CD27 DEFICIENCY
Asterisk 615123 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 13A; ANKRD13A
Asterisk 615124 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 13B; ANKRD13B
Asterisk 615125 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 13C; ANKRD13C
Asterisk 615126 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 13D; ANKRD13D
Percent 615127 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4; FAME4 CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 4; FCMTE4
Asterisk 615128 STIMULATED BY RETINOIC ACID 13; STRA13 CENTROMERIC PROTEIN X; CENPX;; FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 10-KD; FAAP10;; FANCM-INTERACTING HISTONE-FOLD PROTEIN 2; MHF2;; RETINOIC ACID-INDUCIBLE GENE D9; D9
Asterisk 615129 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 5; GALNT5 GalNAc TRANSFERASE 5; GalNAcT5
Asterisk 615130 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 11; GALNT11 GalNAc TRANSFERASE 11; GalNAcT11
Asterisk 615131 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 15; GALNT15 GalNAc TRANSFERASE 15; GalNAcT15
Asterisk 615132 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 16; GALNT16 GalNAc TRANSFERASE 16; GalNAcT16;; GalNAc TRANSFERASE-LIKE 1; GALNTL1;; KIAA1130
Asterisk 615133 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE 5; GALNTL5 GalNAc TRANSFERASE 19; GalNAcT19
Number Sign 615134 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9
Number Sign 615135 MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV
Asterisk 615136 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 18; GALNT18 GalNAc TRANSFERASE 18; GalNAcT18;; GalNAc TRANSFERASE-LIKE 4; GALNTL4
Asterisk 615137 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 17; WBSCR17 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE 3; GALNTL3;; GalNAc TRANSFERASE 17; GalNAcT17
Asterisk 615138 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE 6; GALNTL6 GalNAc TRANSFERASE 20; GalNAcT20
Number Sign 615139 FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE; FILS
Asterisk 615140 CHROMOSOME 12 OPEN READING FRAME 57; C12ORF57 C10
Caret 615141 MOVED TO 177700
Asterisk 615142 KINESIN FAMILY MEMBER 2B; KIF2B
Asterisk 615143 UBIQUITIN-SPECIFIC PROTEASE 20; USP20 VHL-INTERACTING DEUBIQUITINATING ENZYME 2; VDU2;; KIAA1003
Asterisk 615144 PROTEASE, SERINE, 55; PRSS55 TESTIS SERINE PROTEASE 1; TSP1
Number Sign 615145 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9
Asterisk 615146 UBIQUITIN-SPECIFIC PROTEASE 33; USP33 VHL-INTERACTING DEUBIQUITINATING ENZYME 1; VDU1;; KIAA1097
Number Sign 615147 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS
Asterisk 615148 MICRO RNA 551A; MIR551A miRNA155A
Asterisk 615149 MICRO RNA 495; MIR495 miRNA495
Asterisk 615150 MICRO RNA 191; MIR191 miRNA191
Asterisk 615151 MICRO RNA 30C-1; MIR30C1 miNA30C1
Asterisk 615152 KELCH DOMAIN-CONTAINING PROTEIN 10; KLHDC10 SCRUIN-LIKE AT THE MIDLINE, DROSOPHILA, HOMOLOG OF;; SLIM, DROSOPHILA, HOMOLOG OF
Asterisk 615153 MIXED LINEAGE KINASE DOMAIN-LIKE PROTEIN; MLKL
Asterisk 615154 DPY30 DOMAIN-CONTAINING PROTEIN 1; DYDC1
Number Sign 615155 STEEL SYNDROME; STLS DISLOCATED HIPS AND RADIAL HEADS, CARPAL COALITION, SCOLIOSIS, AND SHORT STATURE
Number Sign 615156 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6; PEOA6 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 6
Number Sign 615157 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2
Number Sign 615158 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3
Number Sign 615159 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4
Number Sign 615160 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5
Asterisk 615161 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-2; HLA-DQB2 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DX BETA; HLA-DXB;; DX-BETA
Percent 615162 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35; MRT35
Percent 615163 CONE-ROD DYSTROPHY 17; CORD17
Asterisk 615164 AKIRIN 1; AKIRIN1
Asterisk 615165 AKIRIN 2; AKIRIN2
Asterisk 615166 COX ASSEMBLY MITOCHONDRIAL PROTEIN 1, S. CEREVISIAE, HOMOLOG OF; CMC1 MITOCHONDRIAL METALLOCHAPERONE-LIKE PROTEIN;; C3ORF68
Asterisk 615167 LEUCINE-RICH REPEATS- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 1; LRWD1 ORIGIN RECOGNITION COMPLEX-ASSOCIATED PROTEIN; ORCA;; ORC-ASSOCIATED PROTEIN;; CENTROMERE PROTEIN 33
Asterisk 615168 ARCHAELYSIN FAMILY METALLOPEPTIDASE 1; AMZ1 ARCHAEMETZINCIN 1;; KIAA1950
Asterisk 615169 ARCHAELYSIN FAMILY METALLOPEPTIDASE 2; AMZ2 ARCHAEMETZINCIN 2
Percent 615170 WAHAB SYNDROME CAMPTODACTYLY, CLINODACTYLY, SYNDACTYLY, AND BIFID TOE SYNDROME
Asterisk 615171 LOC100134040 GENE LOC100134040
Asterisk 615172 RING FINGER PROTEIN, TRANSMEMBRANE 1; RNFT1
Asterisk 615173 LONG INTERGENIC NONCODING RNA, REGULATOR OF REPROGRAMMING; LINC-ROR lincRNA ROR; lincROR
NULL 615174 L-THREONINE DEHYDROGENASE, PSEUDOGENE; TDH
Asterisk 615175 FAMILY WITH SEQUENCE SIMILARITY 57, MEMBER B; FAM57B
Asterisk 615176 NPTN INTRONIC TRANSCRIPT 1, NONCODING; NPTNIT1 LONG NONCODING RNA, LOW EXPRESSION IN TUMOR;; lncRNA LET
Asterisk 615177 RING FINGER PROTEIN 126; RNF126
Asterisk 615178 KXDL MOTIF-CONTAINING PROTEIN 1; KXD1 CHROMOSOME 19 OPEN READING FRAME 50; C19ORF50
Number Sign 615179 ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7
Asterisk 615180 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 21, YEAST, HOMOLOG OF; TIMM21 TIM21
Number Sign 615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GALNT2-RELATED
Number Sign 615182 COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD
Asterisk 615183 CHROMOSOME 1 OPEN READING FRAME 86; C1ORF86 FANCONI ANEMIA-ASSOCIATED PROTEIN, 20-KD; FAAP20
Number Sign 615184 CARDIOMYOPATHY, DILATED, 1II; CMD1II
Number Sign 615185 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F; CMTDIF
Asterisk 615186 CWC22 SPLICEOSOME-ASSOCIATED PROTEIN, S. CEREVISIAE, HOMOLOG OF; CWC22 KIAA1604;; NUCAMPHOLIN, DROSOPHILA, HOMOLOG OF; NCM
Asterisk 615187 POST-GPI ATTACHMENT TO PROTEINS 2; PGAP2 FGF RECEPTOR-ACTIVATING PROTEIN 1; FRAG1
Number Sign 615188 CATARACT 39, MULTIPLE TYPES; CTRCT39
Asterisk 615189 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 55; ANKRD55
Number Sign 615190 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, INCLUDED; DKCA4, INCLUDED
Number Sign 615191 LISSENCEPHALY 5; LIS5
Percent 615192 BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 4; BWQTL4
Number Sign 615193 BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15 MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED
Asterisk 615194 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 2; DHRS2 SDR FAMILY, MEMBER 2;; HEP27
Asterisk 615195 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 4-LIKE 1; DHRS4L1 DHRS4-LIKE 1
Asterisk 615196 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 4-LIKE 2; DHRS4L2 DHRS4-LIKE 2;; DHRS4P1
Percent 615197 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 8; RLS8
Percent 615198 OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA; OSMD
Asterisk 615199 SOLUTE CARRIER FAMILY 35, MEMBER G5; SLC35G5 ACYL-MALONYL-CONDENSING ENZYME; AMAC;; ACYL-MALONYL-CONDENSING ENZYME 1-LIKE 2; AMAC1L2
Asterisk 615200 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY F, MEMBER 1; PLEKHF1 LYSOSOME-ASSOCIATED APOPTOSIS-INDUCING PROTEIN CONTAINING PH AND FYVE DOMAINS; LAPF;; PH AND FYVE DOMAINS-CONTAINING PROTEIN 1; PHAFIN1;; PHAFIN 1
Asterisk 615201 MICRO RNA 1909; MIR1909 miRNA1909
Asterisk 615202 MICRO RNA 1915; MIR1915 miRNA1915
Asterisk 615203 RHOMBOID DOMAIN-CONTAINING PROTEIN 2; RHBDD2
Asterisk 615204 UPREGULATED DURING SKELETAL MUSCLE GROWTH 5, MOUSE, HOMOLOG OF; USMG5 DIABETES-ASSOCIATED PROTEIN IN INSULIN-SENSITIVE TISSUES; DAPIT
Asterisk 615205 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 13; SPINK13
Number Sign 615206 IMMUNODEFICIENCY 11; IMD11A IMMUNODEFICIENCY 11; IMD11;; CARD11 IMMUNODEFICIENCY
Number Sign 615207 IMMUNODEFICIENCY 56; IMD56 IL21R IMMUNODEFICIENCY
Asterisk 615208 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY F, MEMBER 2; PLEKHF2 ENDOPLASMIC RETICULUM-ASSOCIATED APOPTOSIS-INVOLVED PROTEIN CONTAINING PH AND FYVE DOMAINS; EAPF;; PH AND FYVE DOMAINS-CONTAINING PROTEIN 2; PHAFIN2;; PHAFIN 2
Asterisk 615209 MICRO RNA 149; MIR149 miRNA149;; MIR149-5p MICRO RNA 149*, INCLUDED; MIR149*, INCLUDED;; MICRO RNA 149-3p, INCLUDED; MIR149-3p, INCLUDED
Asterisk 615210 PEST-CONTAINING NUCLEAR PROTEIN; PCNP
Asterisk 615211 UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 2, E3 UBIQUITIN PROTEIN LIGASE; UHRF2 NP95/ICBP90-LIKE RING FINGER PROTEIN; NIRF
Asterisk 615212 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 38; LRRC38 BK CHANNEL, AUXILIARY GAMMA SUBUNIT 4
Asterisk 615213 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 55; LRRC55 BK CHANNEL, AUXILIARY GAMMA SUBUNIT 3
Number Sign 615214 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7 AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT
Asterisk 615215 POTASSIUM CHANNEL, SUBFAMILY U, MEMBER 1; KCNU1 SLOWPOKE, DROSOPHILA, HOMOLOG OF, 3; SLO3
Asterisk 615216 KINESIN FAMILY MEMBER C2; KIFC2
Number Sign 615217 ATAXIA-OCULOMOTOR APRAXIA 3; AOA3
Asterisk 615218 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 52; LRRC52 BK CHANNEL, AUXILIARY GAMMA SUBUNIT 2
Number Sign 615219 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2
Number Sign 615220 OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 OI, TYPE XV
Number Sign 615221 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16; BMND16 OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO
Number Sign 615222 SMITH-MCCORT DYSPLASIA 2; SMC2
Asterisk 615223 INTERFERON, EPSILON; IFNE IFNE1;; INTERFERON, TAU-1; IFNT1
Number Sign 615224 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2; FASPS2
Number Sign 615225 PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, FORMERLY; CIDED, FORMERLY
Number Sign 615226 POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6
Asterisk 615227 COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 3; C1QL3 C1q/TNF-RELATED PROTEIN 13; CTRP13;; K100
Number Sign 615228 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4; MC5DN4 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5A1 TYPE
Asterisk 615229 COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 4; C1QL4 C1q/TNF-RELATED PROTEIN 11; CTRP11
Asterisk 615230 LONG INTERGENIC NONCODING RNA 1080; LINC01080 lncRNA TCONS_00021856;; LONG INTERGENIC NONCODING RNA TCONS_00021856;; lincRNA TCONS_00021856;; TCONS_00021856
Asterisk 615231 RING FINGER AND CCCH-TYPE ZINC FINGER DOMAINS-CONTAINING PROTEIN 2; RC3H2 ROQUIN 2;; MEMBRANE-ASSOCIATED NUCLEIC ACID-BINDING PROTEIN; MNAB
Number Sign 615232 SCHIZOPHRENIA 18; SCZD18 SCHIZOPHRENIA 18 WITH OR WITHOUT AN AFFECTIVE DISORDER
Number Sign 615233 RETINITIS PIGMENTOSA 66; RP66
Number Sign 615234 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2; AHMIO2
Number Sign 615235 CARDIOMYOPATHY, DILATED, 1JJ; CMD1JJ
NULL 615236 WOODS SYNDROME
Number Sign 615237 CONGENITAL SHORT BOWEL SYNDROME; CSBS
Number Sign 615238 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5; FPLD5 LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS
Asterisk 615239 MICRO RNA 7-1; MIR7-1 miRNA7-1;; MIR7
Asterisk 615240 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 15; KCTD15
Asterisk 615241 TERMINAL DIFFERENTIATION-INDUCED NONCODING RNA; TINCR TISSUE DIFFERENTIATION-INDUCING NONCODING RNA
Asterisk 615242 SMALL INTEGRAL MEMBRANE PROTEIN 1; SMIM1
Asterisk 615243 DEFENSIN, BETA, 114; DEFB114 DEFENSIN, BETA, 14; DEFB14
Number Sign 615244 NEPHROTIC SYNDROME, TYPE 8; NPHS8
Asterisk 615245 MICRO RNA 671; MIR671 miRNA671
Asterisk 615246 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 2; ZBED2
Asterisk 615247 PROTEIN-O-MANNOSE KINASE; POMK PROTEIN KINASE-LIKE PROTEIN SGK196;; SUGEN KINASE 196; SGK196
Number Sign 615248 CARDIOMYOPATHY, DILATED, 1KK; CMD1KK CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED; CMH22, INCLUDED;; CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, INCLUDED; RCM4, INCLUDED
Number Sign 615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED
Asterisk 615250 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 3; ZBED3
Asterisk 615251 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 5; ZBED5 BUSTER1
Asterisk 615252 ZBED6 C TERMINUS-LIKE PROTEIN; ZBED6CL CHROMOSOME 7 OPEN READING FRAME 29; C7ORF29
Asterisk 615253 CHROMOSOME 5 OPEN READING FRAME 54; C5ORF54 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 8; ZBED8;; BUSTER3
Asterisk 615254 SCAN DOMAIN-CONTAINING PROTEIN 3; SCAND3 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 9; ZBED9;; BUSTER4;; KIAA1925
Asterisk 615255 METHYLTRANSFERASE-LIKE 18; METTL18 CHROMOSOME 1 OPEN READING FRAME 156; C1ORF156
Asterisk 615256 ELECTRON TRANSFER FLAVOPROTEIN BETA-SUBUNIT LYSINE METHYLTRANSFERASE; ETFBKMT METHYLTRANSFERASE-LIKE 20; METTL20;; ETF-BETA LYSINE METHYLTRANSFERASE;; CHROMOSOME 12 OPEN READING FRAME 72; C12ORF72
Asterisk 615257 METHYLTRANSFERASE-LIKE 21A; METTL21A FAMILY WITH SEQUENCE SIMILARITY 119, MEMBER A; FAM119A
Asterisk 615258 EEF1A LYSINE METHYLTRANSFERASE 3; EEF1AKMT3 METHYLTRANSFERASE-LIKE 21B; METTL21B;; FAMILY WITH SEQUENCE SIMILARITY 119, MEMBER B; FAM119B
Asterisk 615259 METHYLTRANSFERASE-LIKE 21C; METTL21C CHROMOSOME 13 OPEN READING FRAME 39; C13ORF39
Asterisk 615260 VALOSIN-CONTAINING PROTEIN LYSINE METHYLTRANSFERASE; VCPKMT METHYLTRANSFERASE-LIKE 21D; METTL21D;; CHROMOSOME 14 OPEN READING FRAME 138; C14ORF138
Asterisk 615261 METHYLTRANSFERASE-LIKE 22; METTL22 CHROMOSOME 16 OPEN READING FRAME 68; C16ORF68
Asterisk 615262 METHYLTRANSFERASE-LIKE 23; METTL23 CHROMOSOME 17 OPEN READING FRAME 95; C17ORF95
Asterisk 615263 EUKARYOTIC ELONGATION FACTOR 2 LYSINE METHYLTRANSFERASE; EEF2KMT EEF2 LYSINE METHYLTRANSFERASE;; FAMILY WITH SEQUENCE SIMILARITY 86, MEMBER A; FAM86A
Number Sign 615264 BLOOD GROUP, VEL SYSTEM; VEL VEL-NULL PHENOTYPE, INCLUDED
Asterisk 615265 FORMIN-BINDING PROTEIN 4; FNBP4 FBP30;; KIAA1014
Number Sign 615266 HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17
Number Sign 615267 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18
Number Sign 615268 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4 CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4
Number Sign 615269 HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA; HH19
Number Sign 615270 HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20
Number Sign 615271 HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA; HH21
Number Sign 615272 FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ
Number Sign 615273 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv, FORMERLY; CDG1V, FORMERLY
Number Sign 615274 CATARACT 15, MULTIPLE TYPES; CTRCT15
Asterisk 615275 ACONITATE DECARBOXYLASE 1; ACOD1 IMMUNORESPONSIVE GENE 1, MOUSE, HOMOLOG OF; IRG1
Asterisk 615276 CERAMIDE SYNTHASE 3; CERS3 LAG1, S. CEREVISIAE, HOMOLOG OF, 3; LASS3
Number Sign 615277 CATARACT 19, MULTIPLE TYPES; CTRCT19
Number Sign 615278 CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2
Number Sign 615279 CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3
Number Sign 615280 CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4
Number Sign 615281 HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL ASPARTYL-tRNA SYNTHETASE DEFICIENCY
Number Sign 615282 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2
Asterisk 615283 EXOCYST COMPLEX COMPONENT 8; EXOC8 EXOCYST COMPLEX, 84-KD SUBUNIT; EXO84;; SEC84, S. CEREVISIAE, HOMOLOG OF; SEC84
Number Sign 615284 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3; CMT4B3
Number Sign 615285 NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5
Number Sign 615286 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36
Number Sign 615287 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
Asterisk 615288 DYNEIN REGULATORY COMPLEX, SUBUNIT 1, CHLAMYDOMONAS, HOMOLOG OF; DRC1 COILED-COIL DOMAIN-CONTAINING PROTEIN 164; CCDC164;; CHROMOSOME 2 OPEN READING FRAME 39; C2ORF39
Asterisk 615289 MITOTIC SPINDLE-POSITIONING PROTEIN; MISP MITOTIC INTERACTOR AND SUBSTRATE OF PLK1;; CHROMOSOME 19 OPEN READING FRAME 21; C19ORF21
Number Sign 615290 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL DOMINANT; SMALED2
Asterisk 615291 BETA-1,3-GALACTOSYLTRANSFERASE 6; B3GALT6 UDP-GAL:BETA-GAL BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 6;; GALACTOSYLTRANSFERASE II; GALTII;; BETA-3-GALT6
Asterisk 615292 FAMILY WITH SEQUENCE SIMILARITY 111, MEMBER A; FAM111A KIAA1895
Number Sign 615293 MYOFIBROMATOSIS, INFANTILE, 2; IMF2
Number Sign 615294 CILIARY DYSKINESIA, PRIMARY, 21; CILD21 CILIARY DYSKINESIA, PRIMARY, 21, WITHOUT SITUS INVERSUS
Asterisk 615295 UBIQUITIN-SPECIFIC PROTEASE 34; USP34 KIAA0570
Asterisk 615296 INTERLEUKIN 1 FAMILY, MEMBER 10; IL1F10 INTERLEUKIN 38; IL38;; INTERLEUKIN 1 RECEPTOR ANTAGONIST HOMOLOG 2; IL1HY2;; FAMILY OF INTERLEUKIN 1-THETA;; FIL1-THETA
Number Sign 615297 ADAMS-OLIVER SYNDROME 4; AOS4
Number Sign 615298 SYMPHALANGISM, PROXIMAL, 1B; SYM1B
Asterisk 615299 NUCLEOREDOXIN-LIKE PROTEIN 2; NXNL2 ROD-DERIVED CONE VIABILITY FACTOR 2; RDCVF2
Number Sign 615300 PERRAULT SYNDROME 4; PRLTS4
Asterisk 615301 TRANSMEMBRANE PROTEIN 214; TMEM214
Asterisk 615302 ADENOSINE DEAMINASE, tRNA-SPECIFIC, 3; ADAT3 TAD3, S. CEREVISIAE, HOMOLOG OF; TAD3
Asterisk 615303 TRANSFER RNA GLYCINE 3; TRNAG3
Asterisk 615304 TRANSFER RNA VALINE 32; TRNAV32
Asterisk 615305 TRANSFER RNA ARGININE 2; TRNAR2
Asterisk 615306 TRANSFER RNA VALINE 21; TRNAV21
Asterisk 615307 TRANSFER RNA VALINE 12; TRNAV12
Asterisk 615308 TRANSFER RNA VALINE 17; TRNAV17
Asterisk 615309 TRANSFER RNA THREONINE 15; TRNAT15
Asterisk 615310 TRANSFER RNA VALINE (AAC) 1-1; TRV-AAC1-1 TRANSFER RNA VALINE 24; TRNAV24
Number Sign 615311 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17; BMND17 BONE MINERAL DENSITY, LOW, SUSCEPTIBILITY TO
Percent 615312 ALBINISM, OCULOCUTANEOUS, TYPE V; OCA5
Asterisk 615313 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 7; B3GNT7
Number Sign 615314 CRANIOSYNOSTOSIS 3; CRS3
Asterisk 615315 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 6; B3GNT6
Asterisk 615316 IBA57, S. CEREVISIAE, HOMOLOG OF; IBA57 CHROMOSOME 1 OPEN READING FRAME 69; C1ORF69
Asterisk 615317 IRON-SULFUR CLUSTER ASSEMBLY 2, S. CEREVISIAE, HOMOLOG OF; ISCA2
Asterisk 615318 TRANSMEMBRANE PROTEIN 14C; TMEM14C
Asterisk 615319 IMPACT RWD DOMAIN PROTEIN; IMPACT IMPRINTED AND ANCIENT GENE, MOUSE, HOMOLOG OF;; RWD DOMAIN-CONTAINING PROTEIN 5; RWDD5
Asterisk 615320 GDP-MANNOSE PYROPHOSPHORYLASE B; GMPPB GDP-MANNOSE PYROPHOSPHORYLASE, BETA SUBUNIT;; GMPP-BETA
Asterisk 615321 CHLORIDE INTRACELLULAR CHANNEL 6; CLIC6 CLIC1-LIKE; CLIC1L;; PARCHORIN, RABBIT, HOMOLOG OF
Asterisk 615322 NEGATIVE REGULATOR OF REACTIVE OXYGEN SPECIES; NRROS LEUCINE-RICH REPEAT-CONTAINING PROTEIN 33; LRRC33
Asterisk 615323 JOSEPHIN DOMAIN-CONTAINING PROTEIN 1; JOSD1 KIAA0063
Asterisk 615324 JOSEPHIN DOMAIN-CONTAINING PROTEIN 2; JOSD2
Number Sign 615325 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R; LGMD2R
Asterisk 615326 INTERFERON, KAPPA; IFNK
Number Sign 615327 DOWLING-DEGOS DISEASE 2; DDD2
Number Sign 615328 SHAHEEN SYNDROME; SHNS
Asterisk 615329 EXOCYST COMPLEX COMPONENT 2; EXOC2 SEC5-LIKE 1; SEC5L1;; SEC5
Number Sign 615330 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3
Asterisk 615331 INTERFERON REGULATORY FACTOR 2-BINDING PROTEIN 1; IRF2BP1 IRF2-BINDING PROTEIN 1
Asterisk 615332 INTERFERON REGULATORY FACTOR 2-BINDING PROTEIN 2; IRF2BP2 IRF2-BINDING PROTEIN 2
Asterisk 615333 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 5; B3GNT5 LACTOTRIAOSYLCERAMIDE SYNTHASE;; LC3 SYNTHASE
Asterisk 615334 CERAMIDE SYNTHASE 4; CERS4 LAG1, S. CEREVISIAE, HOMOLOG OF, 4; LASS4;; TRAM HOMOLOG 1; TRH1
Asterisk 615335 CERAMIDE SYNTHASE 5; CERS5 LAG1, S. CEREVISIAE, HOMOLOG OF, 5; LASS5;; TRAM HOMOLOG 4; TRH4
Asterisk 615336 CERAMIDE SYNTHASE 6; CERS6 LAG1, S. CEREVISIAE, HOMOLOG OF, 6; LASS6
Asterisk 615337 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE-LIKE 1; B3GNTL1
Number Sign 615338 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16; EIEE16
Asterisk 615339 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 15; DNAJC15 METHYLATION-CONTROLLED J PROTEIN; MCJ
Asterisk 615340 KELCH-LIKE 40: KLHL40 SARCOSYNAPSIN; SYRP;; KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 5; KBTBD5
Asterisk 615341 CYTOCHROME P450, FAMILY 4, SUBFAMILY A, POLYPEPTIDE 22; CYP4A22
Number Sign 615342 PULMONARY HYPERTENSION, PRIMARY, 2; PPH2
Number Sign 615343 PULMONARY HYPERTENSION, PRIMARY, 3; PPH3
Number Sign 615344 PULMONARY HYPERTENSION, PRIMARY, 4; PPH4
Asterisk 615345 MYOMAKER; MYMK TRANSMEMBRANE PROTEIN 8C; TMEM8C
Number Sign 615346 PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2
Asterisk 615347 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 2B; ATAD2B KIAA1240
Number Sign 615348 NEMALINE MYOPATHY 8; NEM8
Number Sign 615349 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, FORMERLY; EDSP2, FORMERLY
Number Sign 615350 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GMPPB-RELATED
Number Sign 615351 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14 MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
Number Sign 615352 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, GMPPB-RELATED;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2T; LGMD2T
Asterisk 615353 COILED-COIL DOMAIN-CONTAINING PROTEIN 28A; CCDC28A CHROMOSOME 6 OPEN READING FRAME 80; C6ORF80 CCDC28A/NUP98 FUSION GENE, INCLUDED
Asterisk 615354 LIGAND-DEPENDENT NUCLEAR RECEPTOR-INTERACTING FACTOR 1; LRIF1 RECEPTOR-INTERACTING FACTOR 1; RIF1
Number Sign 615355 NOONAN SYNDROME 8; NS8
Number Sign 615356 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S
Asterisk 615357 BETA-1,3-GALACTOSYLTRANSFERASE 8; B3GNT8 BGALT15;; BETA-1,3-GALACTOSYLTRANSFERASE 7, FORMERLY; B3GALT7, FORMERLY
Asterisk 615358 ADENYLATE KINASE 9; AK9
Asterisk 615359 MISSING OOCYTE/MEIOSIS REGULATOR, DROSOPHILA, HOMOLOG OF; MIOS
Number Sign 615360 LEBER CONGENITAL AMAUROSIS 17; LCA17
Number Sign 615361 HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2
Number Sign 615362 CEROID LIPOFUSCINOSIS, NEURONAL, 13; CLN13 CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE
Number Sign 615363 ESTROGEN RESISTANCE; ESTRR ESTROGEN INSENSITIVITY
Asterisk 615364 ADENYLATE KINASE 7; AK7
Asterisk 615365 ADENYLATE KINASE 8; AK8
Asterisk 615366 NUCLEOLAR PROTEIN 11; NOL11
Asterisk 615367 N-TERMINAL ASPARAGINE AMIDASE; NTAN1 N-TERMINAL ASPARAGINE AMIDOHYDROLASE
Number Sign 615368 LETHAL CONGENITAL CONTRACTURE SYNDROME 5; LCCS5 MYOPATHY, CENTRONUCLEAR, LETHAL, AUTOSOMAL RECESSIVE
Number Sign 615369 EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC
Asterisk 615370 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 6; ANKS6 PKDR1;; SAMCYSTIN
Number Sign 615371 PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO; PHN
Asterisk 615372 MICRO RNA 1260B; MIR1260B miRNA1260B;; MIRN1260B
Number Sign 615373 LEFT VENTRICULAR NONCOMPACTION 8; LVNC8 CARDIOMYOPATHY, DILATED, 1LL, INCLUDED; CMD1LL, INCLUDED
Number Sign 615374 CONE-ROD DYSTROPHY 18; CORD18
Asterisk 615375 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1-BINDING PROTEIN 1; IRAK1BP1 IRAK1-BINDING PROTEIN 1;; SIGNALING MOLECULE THAT ASSOCIATES WITH PELLE-LIKE KINASE; SIMPL
Number Sign 615376 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C; CMTRIC CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C; RI-CMTC
Number Sign 615377 ATRIAL FIBRILLATION, FAMILIAL, 13; ATFB13
Number Sign 615378 ATRIAL FIBRILLATION, FAMILIAL, 14; ATFB14
Asterisk 615379 MICRO RNA 650; MIR650 miRNA650
Asterisk 615380 APOPTOSIS-RESISTANT E3 UBIQUITIN PROTEIN LIGASE 1; AREL1 KIAA0317
Number Sign 615381 MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME; MDPL
Number Sign 615382 NEPHRONOPHTHISIS 16; NPHP16
Asterisk 615383 FIDGETIN-LIKE PROTEIN 1; FIGNL1
Asterisk 615384 SCAFFOLDING PROTEIN INVOLVED IN DNA REPAIR; SPIDR KIAA0146
Asterisk 615385 MICRO RNA 485; MIR485 miRNA485
Number Sign 615386 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14 CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, SPECTRIN-ASSOCIATED, 1; SPARCA1
Number Sign 615387 T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY TCR-ALPHA/BETA DEFICIENCY;; IMMUNODEFICIENCY 7; IMD7
Asterisk 615388 ADENOSINE DEAMINASE, tRNA-SPECIFIC, 2; ADAT2 TAD2, S. CEREVISIAE, HOMOLOG OF; TAD2
Asterisk 615389 ISOPENTENYL-DIPHOSPHATE DELTA ISOMERASE 2; IDI2 IPPI2
Percent 615390 VESICOURETERAL REFLUX 7; VUR7
Asterisk 615391 IDI2 ANTISENSE RNA 1, NONCODING; IDI2AS1
Asterisk 615392 SCM-LIKE PROTEIN WITH 4 MBT DOMAINS 2; SFMBT2 KIAA1617
Asterisk 615393 MITOCHONDRIAL TRANSCRIPTION TERMINATION FACTOR 4; MTERF4 MTERF DOMAIN-CONTAINING PROTEIN 2; MTERFD2
Asterisk 615394 NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 4; NSUN4 NOP2/SUN DOMAIN FAMILY, MEMBER 4
Number Sign 615395 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16; COXPD16
Number Sign 615396 LEFT VENTRICULAR NONCOMPACTION 10; LVNC10 CARDIOMYOPATHY, DILATED, 1MM, INCLUDED; CMD1MM, INCLUDED
Number Sign 615397 MECKEL SYNDROME, TYPE 11; MKS11
Number Sign 615398 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7; GPIBD7
Number Sign 615399 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2; PNH2
Number Sign 615400 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5 CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 5; FCMTE5
Number Sign 615401 IMMUNODEFICIENCY 8; IMD8
Number Sign 615402 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3
Asterisk 615403 THO COMPLEX, SUBUNIT 6; THOC6 FUNCTIONAL SPLICEOSOME-ASSOCIATED PROTEIN, 35-KD; FSAP35
Asterisk 615404 TRANSMEMBRANE 4 L6 FAMILY, MEMBER 20; TM4SF20 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 20
Asterisk 615405 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-12; GNG12
Asterisk 615406 GNG12 ANTISENSE RNA 1, NONCODING; GNG12AS1 LONG NONCODING RNA GNG12AS1;; lncRNA GNG12AS1
Asterisk 615407 ADP RIBOSYLATION FACTOR-LIKE 2-BINDING PROTEIN; ARL2BP ARL2-BINDING PROTEIN;; BINDER OF ARL2; BART
Asterisk 615408 ARMADILLO REPEAT-CONTAINING PROTEIN 4; ARMC4
Asterisk 615409 SPERMATOGENESIS-ASSOCIATED PROTEIN 33; SPATA33 CHROMOSOME 16 OPEN READING FRAME 55; C16ORF55
Asterisk 615410 MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN 2; MRAP2 MC2R ACCESSORY PROTEIN 2;; CHROMOSOME 6 OPEN READING FRAME 117; C6ORF117
Number Sign 615411 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3
Number Sign 615412 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4
Number Sign 615413 SPERMATOGENIC FAILURE 12; SPGF12
Number Sign 615414 MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE; MCPH11
Number Sign 615415 RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2
Asterisk 615416 BASIC HELIX-LOOP-HELIX FAMILY, MEMBER A9; BHLHA9 BASIC HELIX-LOOP-HELIX FACTOR, CLASS F, 42; BHLHF42;; FINGERIN
Asterisk 615417 BET1-LIKE PROTEIN; BET1L GOLGI SNARE, 15-KD; GS15
Number Sign 615418 MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B
Number Sign 615419 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 IHPRF
Number Sign 615420 MYOPIA 22, AUTOSOMAL DOMINANT; MYP22
Asterisk 615421 COILED-COIL DOMAIN CONTAINING 111; CCDC111
Number Sign 615422 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2 MULTISYSTEM PROTEINOPATHY 2; MSP2
Asterisk 615423 tRNA METHYLTRANSFERASE 10, S. CEREVISIAE, HOMOLOG OF, C; TRMT10C RNA (GUANINE-9-)METHYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; RG9MTD1;; MITOCHONDRIAL RIBONUCLEASE P PROTEIN 1; MRPP1
Number Sign 615424 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3 MULTISYSTEM PROTEINOPATHY 3; MSP3
Number Sign 615425 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2; EBSB2
Number Sign 615426 AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20
Asterisk 615427 ELMO/CED12 DOMAIN-CONTAINING PROTEIN 3; ELMOD3 RNA-BINDING MOTIF- AND ELMO DOMAIN-CONTAINING PROTEIN 1; RBED1
Asterisk 615428 DEAD BOX POLYPEPTIDE 47; DDX47
Number Sign 615429 DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88
Asterisk 615430 TRANSMEMBRANE PROTEIN 241; TMEM241 CHROMOSOME 18 OPEN READING FRAME 45; C18ORF45
Number Sign 615431 MYOPIA 23, AUTOSOMAL RECESSIVE; MYP23
Number Sign 615432 SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5
Number Sign 615433 CHROMOSOME 3q13.31 DELETION SYNDROME
Number Sign 615434 RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS
Asterisk 615435 ENDOPLASMIC RETICULUM OXIDOREDUCTIN 1-LIKE; ERO1L ERO1-LIKE, ALPHA; ERO1LA;; ERO1, S. CEREVISIAE, HOMOLOG OF, ALPHA;; ERO1-ALPHA
Number Sign 615436 AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8
Asterisk 615437 ENDOPLASMIC RETICULUM OXIDOREDUCTIN 1-LIKE, BETA; ERO1LB ERO1-LIKE, BETA;; ERO1, S. CEREVISIAE, HOMOLOG OF, BETA;; ERO1-BETA
Number Sign 615438 INFANTILE LIVER FAILURE SYNDROME 1; ILFS1
Number Sign 615439 MACULAR DEGENERATION, AGE-RELATED, 13; ARMD13
Number Sign 615440 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17
Number Sign 615441 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5
Asterisk 615442 T-CELL RECEPTOR ALPHA CHAIN VARIABLE GENE CLUSTER; TRAV@
Asterisk 615443 T-CELL RECEPTOR ALPHA CHAIN JOINING GENE CLUSTER; TRAJ@
Number Sign 615444 CILIARY DYSKINESIA, PRIMARY, 22; CILD22 CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS
Asterisk 615445 T-CELL RECEPTOR BETA CHAIN CONSTANT REGION 2; TRBC2
Asterisk 615446 T-CELL RECEPTOR BETA CHAIN VARIABLE GENE CLUSTER; TRBV@
Asterisk 615447 T-CELL RECEPTOR BETA CHAIN DIVERSITY GENE 1; TRBD1
Asterisk 615448 T-CELL RECEPTOR BETA CHAIN DIVERSITY GENE 2; TRBD2
Asterisk 615449 T-CELL RECEPTOR BETA CHAIN JOINING GENE CLUSTER; TRBJ@
Asterisk 615450 T-CELL RECEPTOR GAMMA CHAIN CONSTANT REGION 2; TRGC2
Number Sign 615451 CILIARY DYSKINESIA, PRIMARY, 23; CILD23 CILIARY DYSKINESIA, PRIMARY, 23, WITH OR WITHOUT SITUS INVERSUS
Asterisk 615452 PROSTATE CANCER-ASSOCIATED NONCODING RNA 1; PRNCR1 PROSTATE CANCER-ASSOCIATED TRANSCRIPT 8; PCAT8;; CANCER-ASSOCIATED REGION LONG NONCODING RNA 4; CARLO3;; lncRNA CARLO3
Number Sign 615453 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6
Asterisk 615454 T-CELL RECEPTOR GAMMA CHAIN VARIABLE GENE CLUSTER; TRGV@
Asterisk 615455 T-CELL RECEPTOR GAMMA CHAIN JOINING GENE CLUSTER; TRGJ@
Asterisk 615456 ELMO/CED12 DOMAIN-CONTAINING PROTEIN 1; ELMOD1
Number Sign 615457 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18 OBESITY, SUSCEPTIBILITY TO
Number Sign 615458 MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS; MMCAT
Asterisk 615459 T-CELL RECEPTOR DELTA CHAIN VARIABLE GENE CLUSTER; TRDV@
Asterisk 615460 T-CELL RECEPTOR DELTA CHAIN DIVERSITY GENE CLUSTER; TRDD@
Asterisk 615461 T-CELL RECEPTOR DELTA CHAIN JOINING GENE CLUSTER; TRDJ@
Asterisk 615462 WD REPEAT-CONTAINING PROTEIN 60; WDR60
Asterisk 615463 SEIZURE THRESHOLD 2, MOUSE, HOMOLOG OF; SZT2 KIAA0467
Asterisk 615464 DEAD BOX POLYPEPTIDE 59; DDX59
Number Sign 615465 HARTSFIELD SYNDROME; HRTFDS HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE
Asterisk 615466 MESODERM DEVELOPMENT CANDIDATE 1; MESDC1
Asterisk 615467 GLYCOLIPID TRANSFER PROTEIN DOMAIN-CONTAINING PROTEIN 1; GLTPD1 GLTP DOMAIN-CONTAINING PROTEIN 1;; CERAMIDE-1-PHOSPHATE TRANSFER PROTEIN; CPTP
Number Sign 615468 IMMUNODEFICIENCY 12; IMD12
Asterisk 615469 MICRO RNA 574; MIR574 miRNA574;; MIR574-5p MICRO RNA 574-3p, INCLUDED; MIR574-3p, INCLUDED
Asterisk 615470 CENTROSOMAL PROTEIN, 89-KD; CEP89 COILED-COIL DOMAIN-CONTAINING PROTEIN 123; CCDC123;; CENTROSOMAL PROTEIN 123; CEP123;; FLJ14640
Number Sign 615471 MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13
Asterisk 615472 COATOMER PROTEIN COMPLEX, SUBUNIT ZETA-1; COPZ1 COPZ
Number Sign 615473 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17
Number Sign 615474 PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA
Asterisk 615475 DEAH BOX POLYPEPTIDE 34; DHX34 KIAA0134
Number Sign 615476 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18
Asterisk 615477 NEURONAL TYROSINE-PHOSPHORYLATED PHOSPHOINOSITIDE 3-KINASE ADAPTOR 1; NYAP1
Asterisk 615478 NEURONAL TYROSINE-PHOSPHORYLATED PHOSPHOINOSITIDE 3-KINASE ADAPTOR 2; NYAP2 KIAA1486
Asterisk 615479 MYOSIN XVI; MYO16 NEURONAL TYROSINE-PHOSPHORYLATED PHOSPHOINOSITIDE 3-KINASE ADAPTOR 3; NYAP3;; KIAA0865;; MYR8
Asterisk 615480 BLADDER CANCER-ASSOCIATED TRANSCRIPT 1, NONCODING; BLACAT1 LONG INTERGENIC NONCODING RNA 912; LINCOO912;; UPREGULATED IN BLADDER CANCER 1, LONG INTERGENIC NONCODING RNA;; lincUBC1;; lincRNA UBC1
Number Sign 615481 CILIARY DYSKINESIA, PRIMARY, 24; CILD24 CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS
Number Sign 615482 CILIARY DYSKINESIA, PRIMARY, 25; CILD25 CILIARY DYSKINESIA, PRIMARY, 25, WITH OR WITHOUT SITUS INVERSUS
Number Sign 615483 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5
Asterisk 615484 PENTATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 2; PTCD2
Number Sign 615485 BAINBRIDGE-ROPERS SYNDROME; BRPS
Number Sign 615486 INTERSTITIAL LUNG AND LIVER DISEASE; ILLD PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND;; INFANTILE LIVER FAILURE SYNDROME 2, FORMERLY; ILFS2, FORMERLY
Asterisk 615487 SMALL NUCLEOLAR RNA, H/ACA BOX, 2C; SNORA2C SMALL NUCLEOLAR RNA, H/ACA BOX, 34; SNORA34;; ACA34 MICRO RNA 1291, INCLUDED; MIR1291, INCLUDED;; miRNA1291, INCLUDED
Asterisk 615488 KAT8 REGULATORY NSL COMPLEX, SUBUNIT 2; KANSL2 NONSPECIFIC LETHAL 2, DROSOPHILA, HOMOLOG OF; NSL2;; CHROMOSOME 12 OPEN READING FRAME 41; C12ORF41
Number Sign 615489 MACULAR DEGENERATION, AGE-RELATED, 14; ARMD14 MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF, INCLUDED
Number Sign 615490 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R; CMT2R CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R
Number Sign 615491 SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE; SPG79 NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET; NDGOA
Asterisk 615492 LONG INTERGENIC NONCODING RNA COX2 lincRNA COX2;; LONG NONCODING RNA COX2;; lncRNA COX2
Number Sign 615493 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37
Asterisk 615494 CHROMOSOME 21 OPEN READING FRAME 59; C21ORF59
Asterisk 615495 GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA GDP-MANNOSE PYROPHOSPHORYLASE, ALPHA SUBUNIT;; GMPP-ALPHA
Asterisk 615496 ATP/GTP-BINDING PROTEIN-LIKE 1; AGBL1 CYTOSOLIC CARBOXYPEPTIDASE 4; CCP4
Asterisk 615497 MITOCHONDRIAL ELONGATION FACTOR 1; MIEF1 SMCR7-LIKE PROTEIN; SMCR7L;; MITOCHONDRIAL DYNAMICS PROTEIN, 51-KD; MID51
Asterisk 615498 MITOCHONDRIAL ELONGATION FACTOR 2; MIEF2 SMITH-MAGENIS SYNDROME CHROMOSOME REGION, CANDIDATE GENE 7; SMCR7;; MITOCHONDRIAL DYNAMICS PROTEIN, 49-KD; MID49
Asterisk 615499 PYRUVATE DEHYDROGENASE PHOSPHATASE CATALYTIC SUBUNIT 2; PDP2 KIAA1348
Number Sign 615500 CILIARY DYSKINESIA, PRIMARY, 26; CILD26 CILIARY DYSKINESIA, PRIMARY, 26, WITH OR WITHOUT SITUS INVERSUS
Number Sign 615501 MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C; MOCODC
Number Sign 615502 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21
Number Sign 615503 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI; SRPS6
Number Sign 615504 CILIARY DYSKINESIA, PRIMARY, 27; CILD27 CILIARY DYSKINESIA, PRIMARY, 27, WITHOUT SITUS INVERSUS
Number Sign 615505 CILIARY DYSKINESIA, PRIMARY, 28; CILD28 CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS
Number Sign 615506 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5
Asterisk 615507 NISCHARIN; NISCH IMIDAZOLINE RECEPTOR ANTISERA-SELECTED; IRAS;; KIAA0975
Number Sign 615508 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE; EPKHE SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME;; SAM SYNDROME
Asterisk 615509 MICRO RNA 675; MIR675 miRNA675
Number Sign 615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR
Number Sign 615511 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD ADENOSINE MONOPHOSPHATE DEAMINASE-1 DEFICIENCY, MYOPATHY DUE TO;; AMPD1 DEFICIENCY;; MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO
Number Sign 615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID
Number Sign 615513 IMMUNODEFICIENCY 14; IMD14 ACTIVATED PI3K-DELTA SYNDROME; APDS;; p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY; PASLI
Asterisk 615514 CYCLIN-DEPENDENT KINASE 12; CDK12 CDC2-RELATED KINASE WITH AN ARGININE/SERINE-RICH DOMAIN; CRKRS;; CDC2-RELATED PROTEIN KINASE 7; CRK7;; KIAA0904
Number Sign 615515 AMYOTROPHIC LATERAL SCLEROSIS 19; ALS19
Number Sign 615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38
Number Sign 615517 HEMOCHROMATOSIS, TYPE 5; HFE5 IRON OVERLOAD, AUTOSOMAL DOMINANT
Number Sign 615518 IMMUNODEFICIENCY 13; IMD13 IDIOPATHIC CD4 LYMPHOPENIA; ICL
Asterisk 615519 TOM1-LIKE 2; TOM1L2
Asterisk 615520 MICRO RNA 297; MIR297 miRNA297
Asterisk 615521 SH3 AND CYSTEINE-RICH DOMAINS 3; STAC3
Number Sign 615522 COLE DISEASE; COLED GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION
Number Sign 615523 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8
Number Sign 615524 MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 MICROPHTHALMIA WITH OR WITHOUT PULMONARY HYPOPLASIA, DIAPHRAGMATIC HERNIA, AND/OR CARDIAC DEFECTS
Asterisk 615525 COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-1; COPG1 COP, GAMMA-1
Asterisk 615526 COATOMER PROTEIN COMPLEX, SUBUNIT ZETA-2; COPZ2 COP, ZETA-2
Number Sign 615527 CANDIDIASIS, FAMILIAL, 8; CANDF8 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE
Number Sign 615528 PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A PARK19, FORMERLY PARKINSON DISEASE 19B, EARLY-ONSET, INCLUDED; PARK19B, INCLUDED
Number Sign 615529 CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO; CRS5
Number Sign 615530 PARKINSON DISEASE 20, EARLY-ONSET; PARK20
Asterisk 615531 TRANSMEMBRANE PROTEIN 79; TMEM79 MATTRIN, MOUSE, HOMOLOG OF; MATT
Asterisk 615532 ENDOPLASMIC RETICULUM MEMBRANE-ASSOCIATED RNA DEGRADATION PROTEIN; ERMARD CHROMOSOME 6 OPEN READING FRAME 70; C6ORF70
Asterisk 615533 TRANSMEMBRANE PROTEIN 126B; TMEM126B
Asterisk 615534 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE DOMAIN-CONTAINING PROTEIN 1; TIMMDC1 TIMM DOMAIN CONTAINING-PROTEIN 1;; CHROMOSOME 3 OPEN READING FRAME 1; C3ORF1
Asterisk 615535 SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 4; SYNE4 NUCLEAR ENVELOPE SPECTRIN REPEAT PROTEIN 4; NESP4;; NESPRIN 4;; CHROMOSOME 19 OPEN READING FRAME 46; C19ORF46
Asterisk 615536 CHROMOSOME 2 OPEN READING FRAME 80; C2ORF80 GONAD DEVELOPMENT-ASSOCIATED GENE 1; GONDA1
Number Sign 615537 RETICULATE ACROPIGMENTATION OF KITAMURA; RAK ACROPIGMENTATIO RETICULARIS;; RETICULATE PIGMENTATION OF KITAMURA; RPK;; KITAMURA RETICULATE ACROPIGMENTATION
Number Sign 615538 CHROMOSOME 22q13 DUPLICATION SYNDROME
Number Sign 615539 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2
Number Sign 615540 DEAFNESS, AUTOSOMAL RECESSIVE 76; DFNB76
Number Sign 615541 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39; MRT39
Number Sign 615542 TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD
Asterisk 615543 CHROMOSOME 15 OPEN READING FRAME 38; C15ORF38 ARPIN
Number Sign 615544 PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6
Number Sign 615545 LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3; ALL3
Number Sign 615546 VAN MALDERGEM SYNDROME 2; VMLDS2
Number Sign 615547 SCHAAF-YANG SYNDROME; SHFYNG PRADER-WILLI-LIKE SYNDROME; PWLS
Number Sign 615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7 HSAN VII;; INSENSITIVITY TO PAIN, CONGENITAL, WITH GASTROINTESTINAL DYSFUNCTION AND HYPERHIDROSIS
Asterisk 615549 ARMADILLO REPEAT-CONTAINING PROTEIN 5; ARMC5
Number Sign 615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12
Number Sign 615551 EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2
Number Sign 615552 EPISODIC PAIN SYNDROME, FAMILIAL, 3; FEPS3
Number Sign 615553 ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS
Number Sign 615554 MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB
Number Sign 615555 HYPERPROLACTINEMIA; HPRL
Asterisk 615556 ALPHA-TUBULIN ACETYLTRANSFERASE 1; ATAT1 TUBULIN, ALPHA, ACETYLTRANSFERASE 1;; ALPHA-TAT1;; MEC17, C. ELEGANS, HOMOLOG OF; MEC17;; CHROMOSOME 6 OPEN READING FRAME 134; C6ORF134
Number Sign 615557 MELIOIDOSIS, SUSCEPTIBILITY TO MELIOIDOSIS, RESISTANCE TO, INCLUDED
Number Sign 615558 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1; FHBL1 HYPOBETALIPOPROTEINEMIA, FAMILIAL; FHBL;; ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA;; HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC
Number Sign 615559 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 IMMUNODEFICIENCY, COMMON VARIABLE, 9, FORMERLY; CVID9, FORMERLY
Number Sign 615560 OTOFACIOCERVICAL SYNDROME 2; OTFCS2 OFC2
Number Sign 615561 COMPLEMENT FACTOR B DEFICIENCY; CFBD
Asterisk 615562 SPERM-ASSOCIATED ANTIGEN 5; SPAG5 MITOTIC SPINDLE-ASSOCIATED PROTEIN, 126-KD; MAP126;; ASTRIN
Asterisk 615563 NUCLEAR RECEPTOR-BINDING PROTEIN 2; NRBP2
Asterisk 615564 SIDEROFLEXIN 4; SFXN4
Number Sign 615565 RETINITIS PIGMENTOSA 67; RP67
Asterisk 615566 BTB/POZ DOMAIN-CONTAINING PROTEIN 3; BTBD3 KIAA0952
Asterisk 615567 COENZYME Q8B; COQ8B AARF DOMAIN-CONTAINING KINASE 4; ADCK4
Asterisk 615568 SWI/SNF COMPLEX ANTAGONIST ASSOCIATED WITH PROSTATE CANCER 1, NONCODING; SCHLAP1 SECOND CHROMOSOME LOCUS ASSOCIATED WITH PROSTATE 1;; PROSTATE CANCER-ASSOCIATED TRANSCRIPT 114; PCAT114;; LONG INTERGENIC NONCODING RNA 913; LINC00913;; lincRNA 913
Asterisk 615569 SIDEROFLEXIN 1; SFXN1
Asterisk 615570 SIDEROFLEXIN 2; SFXN2
Asterisk 615571 SIDEROFLEXIN 3; SFXN3
Asterisk 615572 SIDEROFLEXIN 5; SFXN5
Number Sign 615573 NEPHROTIC SYNDROME, TYPE 9; NPHS9
Number Sign 615574 ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD ASNS DEFICIENCY
Number Sign 615575 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D HMN IID;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; DHMN2D;; SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT
Asterisk 615576 MICRO RNA 185; MIR185 miRNA185;; MIR185-5p MICRO RNA 185*, INCLUDED; MIR185*, INCLUDED;; MIR185-3p, INCLUDED
Number Sign 615577 IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 IMMUNODEFICIENCY, COMMON VARIABLE, WITH CENTRAL ADRENAL INSUFFICIENCY;; DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY; DAVID
Number Sign 615578 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18
Asterisk 615579 ATAXIN 7-LIKE 3B; ATXN7L3B
Asterisk 615580 ZINC FINGER PROTEIN 528; ZNF528 KIAA1827
Asterisk 615581 DOUBLE HOMEOBOX 4-LIKE 9; DUX4L9 DUX4C
Number Sign 615582 LOEYS-DIETZ SYNDROME 5; LDS5 RIENHOFF SYNDROME; RNHF
Number Sign 615583 VERHEIJ SYNDROME; VRJS CHROMOSOME 8q24.3 DELETION SYNDROME
Asterisk 615584 FAMILY WITH SEQUENCE SIMILARITY 111, MEMBER B; FAM111B
Asterisk 615585 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 8; SLC38A8
Asterisk 615586 CENTROSOMAL PROTEIN, 19-KD; CEP19 CHROMOSOME 3 OPEN READING FRAME 34; C3ORF34
Asterisk 615587 NUCLEOPORIN, 188-KD; NUP188 KIAA1069
Asterisk 615588 SINGLE-PASS MEMBRANE PROTEIN WITH ASPARTATE-RICH TAIL 1; SMDT1 ESSENTIAL MCU REGULATOR; EMRE;; CHROMOSOME 22 OPEN READING FRAME 32; C22ORF32
Percent 615589 OTOSCLEROSIS 10; OTSC10
Number Sign 615590 ALZHEIMER DISEASE 18; AD18 ALZHEIMER DISEASE 18, LATE-ONSET
Number Sign 615591 MACULAR DEGENERATION, AGE-RELATED, 15; ARMD15
Number Sign 615592 IMMUNODEFICIENCY 15; IMD15
Number Sign 615593 IMMUNODEFICIENCY 16; IMD16 OX40 DEFICIENCY
Asterisk 615594 APELIN RECEPTOR EARLY ENDOGENOUS LIGAND; APELA ELABELA;; ELA;; TODDLER;; LOC100506013
Number Sign 615595 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19
Number Sign 615596 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw; CDG1W CDG Iw; CDGIw
Number Sign 615597 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix; CDG1X CDG Ix; CDGIx
Number Sign 615598 PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE; PPKN
Number Sign 615599 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40; MRT40
Asterisk 615600 ZINC FINGER PROTEIN 582; ZNF582
Asterisk 615601 GLUTAMATE DECARBOXYLASE-LIKE 1; GADL1
Number Sign 615602 MEMORY QUANTITATIVE TRAIT LOCUS; MEMRYQTL
Asterisk 615603 CALCINEURIN-LIKE PHOSPHOESTERASE DOMAIN-CONTAINING PROTEIN 1; CPPED1
Number Sign 615604 L-FERRITIN DEFICIENCY; LFTD
Number Sign 615605 FANCONI RENOTUBULAR SYNDROME 3; FRTS3
Asterisk 615606 BUTYROPHILIN-LIKE PROTEIN 8; BTNL8 BTN9.2
Number Sign 615607 IMMUNODEFICIENCY 17; IMD17 CD3-GAMMA DEFICIENCY;; SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE
Asterisk 615608 CHROMOSOME 10 OPEN READING FRAME 54; C10ORF54 DEATH DOMAIN 1-ALPHA; DD1-ALPHA
Asterisk 615609 SIAH E3 UBIQUITIN PROTEIN LIGASE FAMILY, MEMBER 3; SIAH3 SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 3
Asterisk 615610 CADHERIN-RELATED FAMILY, MEMBER 3; CDHR3
Asterisk 615611 CASEINOLYTIC MITOCHONDRIAL MATRIX PEPTIDASE CHAPERONE SUBUNIT; CLPX ClpX, E. COLI, HOMOLOG OF
Percent 615612 DEVELOPMENTAL DYSPLASIA OF THE HIP 2; DDH2
Asterisk 615613 HEPATOCELLULAR CARCINOMA-ASSOCIATED TRANSCRIPT 5; HCCAT5 HEPATOMA-ASSOCIATED GENE; HTA
Asterisk 615614 MMS22-LIKE PROTEIN; MMS22L CHROMOSOME 6 OPEN READING FRAME 167; C6ORF167
Number Sign 615615 IMMUNODEFICIENCY 18; IMD18 CD3-EPSILON DEFICIENCY IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED;; IMMUNODEFICIENCY 18, SCID VARIANT, INCLUDED
Number Sign 615616 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13; ARVD13 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13; ARVC13
Number Sign 615617 IMMUNODEFICIENCY 19; IMD19 CD3-DELTA DEFICIENCY;; SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE;; SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
Asterisk 615618 PROTEIN O-GLUCOSYLTRANSFERASE 1; POGLUT1 CAP10-LIKE PROTEIN, 46-KD; CLP46;; KTEL MOTIF-CONTAINING PROTEIN 1; KTELC1;; RUMI, DROSOPHILA, HOMOLOG OF; RUMI;; CHROMOSOME 3 OPEN READING FRAME 9; C3ORF9
NULL 615619 CHOLANGIOCARCINOMA, SUSCEPTIBILITY TO CHLC, SUSCEPTIBILITY TO
Asterisk 615620 KAPTIN; KPTN ACTIN-ASSOCIATED PROTEIN 2E4; 2E4
Asterisk 615622 TNF- AND HNRNPL-RELATED IMMUNOREGULATORY LONG NONCODING RNA; THRIL TNF- AND HNRNPL-RELATED IMMUNOREGULATORY lncRNA;; LONG INTERGENIC NONCODING RNA 1992; LINC1992;; lincRNA 1992;; BRI3BP ANTISENSE RNA 1; BRI3BPAS1;; TCONS_00020260
Asterisk 615623 CYTOCHROME C OXIDASE ASSEMBLY FACTOR 7; COA7 RESPIRATORY CHAIN ASSEMBLY PROTEIN 1; RESA1;; SEL1 REPEAT-CONTAINING PROTEIN 1; SELRC1;; CHROMOSOME 1 OPEN READING FRAME 163; C1ORF163
Asterisk 615624 COLORECTAL NEOPLASIA DIFFERENTIALLY EXPRESSED GENE, NONCODING; CRNDE
Number Sign 615625 SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE; SPG72 SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, INCLUDED
Asterisk 615626 CHROMOSOME 15 OPEN READING FRAME 41; C15ORF41
Asterisk 615627 BRI3-BINDING PROTEIN; BRI3BP
Asterisk 615628 BRAIN PROTEIN I3; BRI3
Number Sign 615629 DEAFNESS, AUTOSOMAL DOMINANT 56; DFNA56
Number Sign 615630 SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10
Number Sign 615631 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDAN1B CDA, TYPE Ib
Number Sign 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF; HSN1F HSN IF
Number Sign 615633 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11
Asterisk 615634 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 6; CHCHD6 COILED-COIL-HELIX CRISTAE MORPHOLOGY PROTEIN 1; CHCM1;; MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 25-KD SUBUNIT; MIC25;; MICOS COMPLEX, 25-KD SUBUNIT
Asterisk 615635 ZINC FINGER RNA-BINDING PROTEIN; ZFR
Number Sign 615636 JOUBERT SYNDROME 21; JBTS21
Number Sign 615637 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41; MRT41
Asterisk 615638 NON-SMC CONDENSIN I COMPLEX SUBUNIT D2; NCAPD2 CHROMOSOME CONDENSATION-RELATED SMC-ASSOCIATED PROTEIN 1; CNAP1;; KIAA0159
Asterisk 615639 SMALL CAJAL BODY-SPECIFIC RNA 10; SCARNA10 snoRNA, U85
Asterisk 615640 SMALL CAJAL BODY-SPECIFIC RNA 5; SCARNA5 snoRNA, U87
Asterisk 615641 SMALL CAJAL BODY-SPECIFIC RNA 6; SCARNA6 snoRNA, U88
Asterisk 615642 SMALL CAJAL BODY-SPECIFIC RNA 12; SCARNA12 snoRNA, U89
Number Sign 615643 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6; NBIA6
Asterisk 615644 SMALL CAJAL BODY-SPECIFIC RNA 7; SCARNA7 snoRNA, U90
Asterisk 615645 SMALL CAJAL BODY-SPECIFIC RNA 17; SCARNA17 snoRNA, U91
Asterisk 615646 SMALL CAJAL BODY-SPECIFIC RNA 8; SCARNA8 snoRNA, U92
Asterisk 615647 TESTIS-EXPRESSED GENE 19; TEX19
Asterisk 615648 NLR FAMILY, CASPASE RECRUITMENT DOMAIN-CONTAINING 3; NLRC3 NLR FAMILY, CARD-CONTAINING 3;; CATERPILLER 16.2;; CLR16.2
Percent 615649 DEAFNESS, AUTOSOMAL DOMINANT 54; DFNA54
Asterisk 615650 REGULATOR OF G PROTEIN SIGNALING 22; RGS22
Number Sign 615651 LEUKOENCEPHALOPATHY WITH ATAXIA; LKPAT
Asterisk 615652 ACYL-CoA THIOESTERASE 13; ACOT13 THIOESTERASE SUPERFAMILY MEMBER 2; THEM2
Asterisk 615653 THIOESTERASE SUPERFAMILY MEMBER 5; THEM5 ACYL-CoA THIOESTERASE 15; ACOT15
Percent 615654 DEAFNESS, AUTOSOMAL DOMINANT 58; DFNA58
Asterisk 615655 ZINC FINGER RANBP2-TYPE DOMAIN-CONTAINING PROTEIN 3; ZRANB3 ZINC FINGER RAN-BINDING DOMAIN-CONTAINING PROTEIN 3
Number Sign 615656 CHROMOSOME 15q11.2 DELETION SYNDROME
Asterisk 615657 MICRO RNA 142; MIR142 miRNA142;; MIR142-5p MICRO RNA 142-3p, INCLUDED; MIR142-3p, INCLUDED
Number Sign 615658 SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE; SPG57
Asterisk 615659 TRANSMEMBRANE PROTEIN 131; TMEM131 KIAA0257;; CC28
Asterisk 615660 RIBOSOMAL PROTEIN L10A; RPL10A CSA19
Asterisk 615661 PROGRAMMED CELL DEATH 2-LIKE PROTEIN; PDCD2L PDCD2-LIKE PROTEIN;; MGC13096
Asterisk 615662 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 12; SERPINB12
Number Sign 615663 WARBURG MICRO SYNDROME 4; WARBM4
Asterisk 615664 THYMOCYTE-EXPRESSED POSITIVE SELECTION-ASSOCIATED PROTEIN 1; TESPA1 KIAA0748
Number Sign 615665 JOUBERT SYNDROME 22; JBTS22
Asterisk 615666 KIAA1456 GENE; KIAA1456 tRNA METHYLTRANSFERASE 9-LIKE; TRM9L
Asterisk 615667 ERCC6-LIKE 2; ERCC6L2 RAD26-LIKE; RAD26L HELICASE MUTATED IN BONE MARROW FAILURE, INCLUDED; HEBO, INCLUDED
Number Sign 615668 CHROMOSOME 5q12 DELETION SYNDROME
Asterisk 615669 EMBIGIN; EMB GP70
Number Sign 615670 SCHWANNOMATOSIS 2; SWNTS2
Asterisk 615671 SET DOMAIN-CONTAINING PROTEIN 3; SETD3
Asterisk 615672 MICRO RNA 497; MIR497 miRNA497;; MIRN497
Number Sign 615673 MYOPATHY WITH EXTRAPYRAMIDAL SIGNS; MPXPS
Percent 615674 DOWLING-DEGOS DISEASE 3; DDD3
Asterisk 615675 MICRO RNA 301A; MIR301A miRNA301A;; MIR301
Asterisk 615676 TESTIS DEVELOPMENT-RELATED GENE 1, NONCODING; TDRG1 LONG INTERGENIC NONCODING RNA 532; LINC00532;; lincRNA 532
Asterisk 615677 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 9; SERPINA9 GERMINAL CENTER B-CELL-EXPRESSED TRANSCRIPT 1; GCET1;; CENTERIN
Asterisk 615678 SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN-LIKE PROTEIN 2; SH3BGRL2 SH3BGR-LIKE PROTEIN 2
Asterisk 615679 SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN-LIKE PROTEIN 3; SH3BGRL3 SH3BGR-LIKE PROTEIN 3;; TNF INHIBITORY PROTEIN B1; TIPB1
Asterisk 615680 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 16; CARD16 CASPASE RECRUITMENT DOMAIN-ONLY PROTEIN; COP; COP1;; CARD-ONLY PROTEIN;; PSEUDO-INTERLEUKIN 1-BETA-CONVERTING ENZYME;; PSEUDO-IL1B-CONVERTING ENZYME;; PSEUDO-ICE
Number Sign 615681 SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62
Asterisk 615682 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 11; SERPINB11
Number Sign 615683 SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE; SPG64
Asterisk 615684 HFM1, ATP-DEPENDENT DNA HELICASE, S. CEREVISIAE, HOMOLOG OF; HFM1 HELICASE FAMILY MEMBER 1;; MER3, S. CEREVISIAE, HOMOLOG OF; MER3
Number Sign 615685 SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE; SPG61
Number Sign 615686 SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE; SPG63
Asterisk 615687 BECLIN 2 BECN2;; BECLIN 1-LIKE PROTEIN 1; BECN1L1
Number Sign 615688 POLYARTERITIS NODOSA, CHILDHOOD-ONSET; PAN ADA2 DEFICIENCY
Asterisk 615689 ADHESION MOLECULE WITH Ig-LIKE DOMAIN 1; AMIGO1 AMPHOTERIN-INDUCED GENE AND OPEN READING FRAME; AMIGO;; ALIVIN 2; ALI2;; KIAA1163
Asterisk 615690 ADHESION MOLECULE WITH Ig-LIKE DOMAIN 2; AMIGO2 AMPHOTERIN-INDUCED GENE AND OPEN READING FRAME 2; AMIGO2;; ALIVIN 1; ALI1
Asterisk 615691 ADHESION MOLECULE WITH Ig-LIKE DOMAIN 3; AMIGO3 AMPHOTERIN-INDUCED GENE AND OPEN READING FRAME 3; AMIGO3;; ALIVIN 3; ALI3
Asterisk 615692 CHITINASE DOMAIN-CONTAINING PROTEIN 1; CHID1 STABILIN 1-INTERACTING CHITINASE-LIKE PROTEIN; SICLP
Asterisk 615693 COLCA1 GENE; COLCA1 COLORECTAL CANCER-ASSOCIATED GENE 1
Asterisk 615694 COLCA2 GENE; COLCA2 COLORECTAL CANCER-ASSOCIATED GENE 2
Asterisk 615695 HEXAMETHYLENE BIS ACETAMIDE-INDUCIBLE PROTEIN 2; HEXIM2
Number Sign 615696 DOWLING-DEGOS DISEASE 4; DDD4
Percent 615697 EPILEPSY, FAMILIAL TEMPORAL LOBE, 6; ETL6
Asterisk 615698 PHOSPHOLIPASE D FAMILY, MEMBER 3; PLD3 HUK4
Asterisk 615699 CHROMOSOME 11 OPEN READING FRAME 95; C11ORF95 C11ORF95/MKL2 FUSION GENE, INCLUDED;; C11ORF95/RELA FUSION GENE, INCLUDED
Asterisk 615700 PYRIN DOMAIN-CONTAINING PROTEIN 1; PYDC1 PAAD DOMAIN-ONLY PROTEIN 1; POP1;; PYRIN DOMAIN-ONLY PROTEIN 1;; PYC1;; ASC2
Asterisk 615701 PYRIN DOMAIN-CONTAINING PROTEIN 2; PYDC2 PYRIN DOMAIN-ONLY PROTEIN 2; POP2
Asterisk 615702 OLFACTORY RECEPTOR, FAMILY 5, SUBFAMILY AN, MEMBER 1; OR5AN1 OR11-244
Number Sign 615703 MORBID OBESITY AND SPERMATOGENIC FAILURE; MOSPGF
Number Sign 615704 POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP POIKILODERMA, HEREDITARY SCLEROSING, WITH TENDON AND PULMONARY INVOLVEMENT
Number Sign 615705 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 SALIH ATAXIA
Number Sign 615706 AURICULOCONDYLAR SYNDROME 3; ARCND3
Number Sign 615707 IMMUNODEFICIENCY 20; IMD20
Asterisk 615708 ZINC FINGER PROTEIN 451; ZNF451 COACTIVATOR FOR STEROID RECEPTORS; COASTER
Number Sign 615709 SACRAL AGENESIS WITH VERTEBRAL ANOMALIES; SAVA
Number Sign 615710 MITCHELL-RILEY SYNDROME; MTCHRS DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA
NULL 615711 ALZHEIMER DISEASE 19; AD19 ALZHEIMER DISEASE 19, LATE-ONSET
Asterisk 615712 OTU DEUBIQUITINASE WITH LINEAR LINKAGE SPECIFICITY; OTULIN FAMILY WITH SEQUENCE SIMILARITY 105, MEMBER B; FAM105B;; GUMBY, MOUSE, HOMOLOG OF; GUM
Asterisk 615713 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 8; ZMYND8 PROTEIN KINASE C-BINDING PROTEIN 1; PRKCBP1;; RACK7
Asterisk 615714 ZNRD1 ANTISENSE RNA 1; ZNRD1AS1 TCTEX4, MOUSE, HOMOLOG OF; TCTEX4;; TEX4; HTEX4
Number Sign 615715 BONE MARROW FAILURE SYNDROME 2; BMFS2
Number Sign 615716 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10; GPIBD10
Asterisk 615717 BPI FOLD-CONTAINING PROTEIN, FAMILY B, MEMBER 3; BPIFB3 RYA3
Asterisk 615718 BPI FOLD-CONTAINING PROTEIN, FAMILY B, MEMBER 4; BPIFB4 RY2G5
Asterisk 615719 TCL1 UPSTREAM NEURAL DIFFERENTIATION-ASSOCIATED RNA; TUNAR TCL1 UPSTREAM NEURON-ASSOCIATED RNA; TUNA;; LONG INTERGENIC NONCODING RNA 617; LINC00617;; lincRNA TUNAR
Asterisk 615720 SOLUTE CARRIER FAMILY 7, MEMBER 14; SLC7A14 KIAA1613
Number Sign 615721 RENAL HYPODYSPLASIA/APLASIA 2; RHDA2
Number Sign 615722 BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS
Number Sign 615723 PREMATURE OVARIAN FAILURE 8; POF8
Number Sign 615724 PREMATURE OVARIAN FAILURE 9; POF9
Number Sign 615725 RETINITIS PIGMENTOSA 68; RP68
Number Sign 615726 PACHYONYCHIA CONGENITA 3; PC3
Asterisk 615727 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 5B; KIR2DL5B
Number Sign 615728 PACHYONYCHIA CONGENITA 4; PC4
Asterisk 615729 STRAWBERRY NOTCH, DROSOPHILA, HOMOLOG OF, 2; SBNO2 KIAA0963
Asterisk 615730 DEDICATOR OF CYTOKINESIS 7; DOCK7 KIAA1771
Number Sign 615731 NEMALINE MYOPATHY 9; NEM9
Asterisk 615732 NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 5; NSUN5 NOP2/SUN DOMAIN FAMILY, MEMBER 5;; WILLIAMS-BEUREN SYNDROME CRITICAL REGION 20; WBSCR20;; WBSCR20A
Asterisk 615733 rRNA METHYLTRANSFERASE AND RIBOSOME MATURATION FACTOR BUD23; BUD23 METASTASIS-RELATED METHYLTRANSFERASE 1; MERM1;; WILLIAMS-BEUREN SYNDROME CRITICAL REGION 22; WBSCR22
Asterisk 615734 WD REPEAT-CONTAINING PROTEIN 47; WDR47 NEURONAL ENRICHED MAP-INTERACTING PROTEIN; NEMITIN;; KIAA0893
Number Sign 615735 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE; PPKNEFD
Asterisk 615736 ENDOTHELIAL CELL SURFACE-EXPRESSED CHEMOTAXIS AND APOPTOSIS REGULATOR; ECSCR ENDOTHELIAL CELL-SPECIFIC MOLECULE 2; ECSM2;; APOPTOSIS REGULATOR THROUGH MODULATING IAP EXPRESSION; ARIA
Asterisk 615737 FOLATE RECEPTOR 4; FOLR4 FOLATE RECEPTOR, DELTA;; FR-DELTA;; FOLBP3, MOUSE, HOMOLOG OF;; JUNO
Asterisk 615738 VACUOLAR PROTEIN SORTING 51, S. CEREVISIAE, HOMOLOG OF; VPS51 ANOTHER NEW GENE 2; ANG2
Asterisk 615739 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1B; POU5F1B POU CLASS 5 HOMEOBOX 1B;; POU5F1P1;; OCT4PG1
Asterisk 615740 TBC1 DOMAIN FAMILY, MEMBER 5; TBC1D5 KIAA0210
Asterisk 615741 KIAA0141 GENE; KIAA0141 DEATH LIGAND SIGNAL ENHANCER; DELE
Asterisk 615742 RGP1 RETROGRADE GOLGI TRANSPORT, S. CEREVISIAE, HOMOLOG OF; RGP1 KIAA0258
Asterisk 615743 SET DOMAIN-CONTAINING PROTEIN 5; SETD5 KIAA1757
Number Sign 615744 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19
Number Sign 615745 ATRIAL STANDSTILL 2; ATRST2 ATRIAL DILATION AND STANDSTILL;; CARDIOMYOPATHY, ATRIAL DILATED, WITH ATRIAL STANDSTILL
Asterisk 615746 ZXD FAMILY ZINC FINGER PROTEIN C; ZXDC
Asterisk 615747 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 8; CEACAM8 CD66B;; CGM6
Asterisk 615748 WASH COMPLEX, SUBUNIT 4; WASHC4 KIAA1033 GENE; KIAA1033;; WASH COMPLEX, SUBUNIT 7;; STRUMPELLIN AND WASH-INTERACTING PROTEIN; SWIP
Number Sign 615749 ECULIZUMAB, POOR RESPONSE TO
Number Sign 615750 MOYAMOYA DISEASE 6 WITH ACHALASIA; MYMY6
Number Sign 615751 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO; CA5AD
Number Sign 615752 POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR PMGR
Asterisk 615753 POM121 TRANSMEMBRANE NUCLEOPORIN; POM121 POM121A;; KIAA0618
Asterisk 615754 POM121 TRANSMEMBRANE NUCLEOPORIN C; POM121C POM121-2
Asterisk 615755 FORKHEAD BOX R1; FOXR1 FORKHEAD BOX N5; FOXN5
Asterisk 615756 SELENOCYSTEINE INSERTION SEQUENCE-BINDING PROTEIN 2-LIKE; SECISBP2L SECIS-BINDING PROTEIN 2-LIKE; SBP2L;; KIAA0256
Asterisk 615757 KIZUNA CENTROSOMAL PROTEIN; KIZ KIZUNA;; CHROMOSOME 20 OPEN READING FRAME 19; C20ORF19
Number Sign 615758 IMMUNODEFICIENCY 22; IMD22
Asterisk 615759 KINASE D-INTERACTING SUBSTRATE, 220-KD; KIDINS220 ANKYRIN REPEAT-RICH MEMBRANE-SPANNING PROTEIN; ARMS
Number Sign 615760 MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA
Number Sign 615761 MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23
Asterisk 615762 GLUTAREDOXIN, CYSTEINE-RICH, 2; GRXCR2
Number Sign 615763 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5
Asterisk 615764 LONG STRESS-INDUCED NONCODING TRANSCRIPT 5; LSINCT5
Asterisk 615765 SOLUTE CARRIER FAMILY 16, MEMBER 11; SLC16A11 MONOCARBOXYLATE TRANSPORTER 11; MCT11
Asterisk 615766 MICROTUBULE CROSSLINKING FACTOR 1; MTCL1 KIAA0802
Number Sign 615767 IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 IL21 DEFICIENCY
Number Sign 615768 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16; SCAR16
Asterisk 615769 FAMILY WITH SEQUENCE SIMILARITY 169, MEMBER A; FAM169A SOLUBLE LAMINA-ASSOCIATED PROTEIN, 75-KD; SLAP75;; KIAA0888
Number Sign 615770 ATRIAL FIBRILLATION, FAMILIAL, 15; ATFB15
Number Sign 615771 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6
Asterisk 615772 LONG NONCODING RNA, DENDRITIC CELL lncRNA DC;; lncDC;; LOC615638
Asterisk 615773 ACN9, S. CEREVISIAE, HOMOLOG OF; ACN9
Number Sign 615774 OOCYTE MATURATION DEFECT 1; OOMD1 OOMD
Asterisk 615775 SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 3; SYCE3
Asterisk 615776 CILIARY ROOTLET COILED-COIL PROTEIN; CROCC ROOTLETIN;; KIAA0445
Number Sign 615777 DESBUQUOIS DYSPLASIA 2; DBQD2
Asterisk 615778 CLAUDIN 15; CLDN15
Number Sign 615779 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4
Number Sign 615780 RETINITIS PIGMENTOSA 69; RP69
Asterisk 615781 ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-3 SUBUNIT; AP1S3 ADAPTOR PROTEIN COMPLEX 1, SIGMA-1C SUBUNIT
Asterisk 615782 CIRCADIAN-ASSOCIATED REPRESSOR OF TRANSCRIPTION; CIART COMPUTATIONALLY HIGHLIGHTED REPRESSOR OF NETWORK OSCILLATOR; CHRONO;; GENE MODEL 129; GM129
Asterisk 615783 N-ACETYLTRANSFERASE 16; NAT16
Asterisk 615784 GLUTATHIONE PEROXIDASE 7; GPX7 NONSELENOCYSTEINE-CONTAINING PHOSPHOLIPID HYDROPEROXIDE GLUTATHIONE PEROXIDASE; NPGPX
Number Sign 615785 WHITE SPONGE NEVUS 2; WSN2
Asterisk 615786 NACC FAMILY, MEMBER 2, BEN AND BTB/POZ DOMAINS-CONTAINING; NACC2 REPRESSOR WITH BTB DOMAIN AND BEN DOMAIN; RBB
Asterisk 615787 NAD KINASE 2, MITOCHONDRIAL; NADK2 CHROMOSOME 5 OPEN READING FRAME 33; C5ORF33
Asterisk 615788 NEDD4-BINDING PROTEIN 2-LIKE 2; N4BP2L2 PHOSPHONOFORMATE IMMUNO-ASSOCIATED PROTEIN 5; PFAAP5
Number Sign 615789 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Asterisk 615790 AT-HOOK DNA-BINDING MOTIF-CONTAINING PROTEIN 1; AHDC1
Asterisk 615791 NUDIX HYDROLASE 18; NUDT18 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 18;; NUDIX MOTIF 18;; MutT HOMOLOG 3; MTH3
Asterisk 615792 NUDIX HYDROLASE 15; NUDT15 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 15;; NUDIX MOTIF 15;; MutT HOMOLOG 2; MTH2
Asterisk 615793 ISTHMIN 1, ANGIOGENESIS INHIBITOR; ISM1 ISTHMIN; ISM
Asterisk 615794 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 3A;; FNDC3A KIAA0970;; HUMAN GENE EXPRESSED IN ODONTOBLASTS; HUGO
Asterisk 615795 FIBROUS SHEATH-INTERACTING PROTEIN 1; FSIP1 HSD10
Asterisk 615796 FIBROUS SHEATH-INTERACTING PROTEIN 2; FSIP2
Asterisk 615797 HLA COMPLEX GROUP 9, NONCODING; HCG9 HCGIX;; HCGIX4
Asterisk 615798 CLAUDIN 6; CLDN6
Asterisk 615799 CLAUDIN 9; CLDN9
Asterisk 615800 FASCIN ACTIN-BUNDLING PROTEIN 3, TESTICULAR; FSCN3 FASCIN, TESTIS
Asterisk 615801 HLA COMPLEX GROUP 8; HCG8 HCGVIII
Number Sign 615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9; GPIBD9
Number Sign 615803 PONTOCEREBELLAR HYPOPLASIA, TYPE 10; PCH10
Asterisk 615804 UREIDOIMIDAZOLINE (2-OXO-4-HYDROXY-4-CARBOXY-5-) DECARBOXYLASE; URAD OHCU DECARBOXYLASE
Asterisk 615805 URATE (HYDROXYISO-) HYDROLASE, PSEUDOGENE; URAHP HYDROXYISOURATE HYDROLASE; URAH
Asterisk 615806 SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 4; SLC15A4 PEPTIDE/HISTIDINE TRANSPORTER 1; PHT1;; PEPTIDE TRANSPORTER 4; PTR4
Number Sign 615807 SECKEL SYNDROME 8; SCKL8
Asterisk 615808 TRANSLATION MACHINERY-ASSOCIATED 7, S. CEREVISIAE, HOMOLOG OF; TMA7 HSPC016
Number Sign 615809 PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9
Asterisk 615810 CHROMOSOME 11 OPEN READING FRAME 54; C11ORF54 PTD012
Asterisk 615811 PEPTIDYL-PROLYL ISOMERASE-LIKE 3; PPIL3
Number Sign 615812 ABDOMINAL OBESITY-METABOLIC SYNDROME 3; AOMS3 CENTRAL OBESITY, TYPE 2 DIABETES, HYPERTENSION, AND EARLY-ONSET CORONARY ARTERY DISEASE
Asterisk 615813 FAMILY WITH SEQUENCE SIMILARITY 193, MEMBER B; FAM193B IRIZIO;; KIAA1931
Asterisk 615814 SERINE/THREONINE/TYROSINE-INTERACTING PROTEIN; STYX
Asterisk 615815 SMOOTH MUSCLE- AND ENDOTHELIAL CELL-ENRICHED MIGRATION/DIFFERENTIATION-ASSOCIATED LONG NONCODING RNA; SENCR LONG NONCODING RNA 9; lncRNA9
Number Sign 615816 IMMUNODEFICIENCY 23; IMD23 IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;; IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS
Number Sign 615817 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43; MRT43
Asterisk 615818 RIBOSOMAL RNA PROCESSING PROTEIN 8, METHYLTRANSFERASE, S. CEREVISIAE, HOMOLOG OF; RRP8 NUCLEOMETHYLIN; NML;; KIAA0409
Asterisk 615819 SULFOTRANSFERASE FAMILY 1A, CYTOSOLIC, PHENOL-PREFERRING, MEMBER 4; SULT1A4
Asterisk 615820 DDB1- AND CUL4-ASSOCIATED FACTOR 8; DCAF8 WD REPEAT-CONTAINING PROTEIN 42A; WDR42A
Number Sign 615821 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA
Asterisk 615822 SLX1 STRUCTURE-SPECIFIC ENDONUCLEASE SUBUNIT, S. CEREVISIAE, HOMOLOG OF, A; SLX1A GIY-YIG DOMAIN CONTAINING PROTEIN 1; GIYD1
Asterisk 615823 SLX1 STRUCTURE-SPECIFIC ENDONUCLEASE SUBUNIT, S. CEREVISIAE, HOMOLOG OF, B; SLX1B GIY-YIG DOMAIN CONTAINING PROTEIN 2; GIYD2
Number Sign 615824 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7
Asterisk 615825 SUSHI DOMAIN-CONTAINING PROTEIN 2; SUSD2
Asterisk 615826 SPERM-TAIL PG-RICH REPEAT-CONTAINING PROTEIN 1; STPG1 O(6)-METHYLGUANINE-INDUCED APOPTOSIS 2; MAPO2;; CHROMOSOME 1 OPEN READING FRAME 201; C1ORF201
Asterisk 615827 SUSHI DOMAIN-CONTAINING PROTEIN 4; SUSD4
Number Sign 615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24
Number Sign 615829 XIA-GIBBS SYNDROME MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25
Number Sign 615830 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4 CUSHING SYNDROME, ADRENAL, DUE TO PPNAD4;; CHROMOSOME 19p13 DUPLICATION SYNDROME ACTH-INDEPENDENT ADRENAL CUSHING SYNDROME, SOMATIC, INCLUDED
Asterisk 615831 LYR MOTIF-CONTAINING PROTEIN 7; LYRM7 MZM1-LIKE; MZM1L
Asterisk 615832 UBIQUITIN-CONJUGATING ENZYME E2Q FAMILY-LIKE PROTEIN 1; UBE2QL1
Number Sign 615833 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21
Number Sign 615834 MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26
Number Sign 615835 CHROMOSOME 16 INVERSION, 0.45-MB
Asterisk 615836 SERINE/THREONINE PROTEIN KINASE 38-LIKE PROTEIN; STK38L STK38-LIKE PROTEIN;; NUCLEAR DBF2-RELATED PROTEIN 2; NDR2;; KIAA0965
Number Sign 615837 DEAFNESS, AUTOSOMAL RECESSIVE 101; DFNB101
Number Sign 615838 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8
Asterisk 615839 2,4-DIENOYL-CoA REDUCTASE 2, PEROXISOMAL; DECR2 PDCR
Asterisk 615840 dCTP PYROPHOSPHATASE 1; DCTPP1 DEOXYCYTIDINE TRIPHOSPHATASE 1
Number Sign 615841 SPERMATOGENIC FAILURE 13; SPGF13
Number Sign 615842 SPERMATOGENIC FAILURE 14; SPGF14
Asterisk 615843 DELTA(4)-DESATURASE, SPHINGOLIPID, 1; DEGS1 DIHYDROCERAMIDE DESATURASE 1; DES1;; MEMBRANE LIPID DESATURASE; MLD
Asterisk 615844 DIHYDROXYACETONE KINASE 2, S. CEREVISIAE, HOMOLOG OF; DAK DHA KINASE/FMN CYCLASE
Asterisk 615845 MICRO RNA 190A; MIR190A
Number Sign 615846 AICARDI-GOUTIERES SYNDROME 7; AGS7
Asterisk 615847 CENTROSOMAL PROTEIN, 83-KD; CEP83 COILED-COIL DOMAIN-CONTAINING PROTEIN 41; CCDC41;; RENAL CARCINOMA ANTIGEN NY-REN-58
Number Sign 615848 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10; CMM10
Number Sign 615849 CULLER-JONES SYNDROME; CJS PALLISTER-HALL SYNDROME 2, FORMERLY; PHS2, FORMERLY
Asterisk 615850 VACUOLAR PROTEIN SORTING 53, S. CEREVISIAE, HOMOLOG OF; VPS53 HCCS1
Number Sign 615851 PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E
Asterisk 615852 RAS-ASSOCIATED PROTEIN RAB6B; RAB6B
Asterisk 615853 POLYAMINE OXIDASE; PAOX PAO
Asterisk 615854 SPERMINE OXIDASE; SMOX SMO;; CHROMOSOME 20 OPEN READING FRAME 16; C20ORF16;; POLYAMINE OXIDASE 1; PAO1;; PAOH
Asterisk 615855 TRANSMEMBRANE AND TETRATRICOPEPTIDE REPEAT DOMAINS-CONTAINING PROTEIN 1; TMTC1
Asterisk 615856 TRANSMEMBRANE AND TETRATRICOPEPTIDE REPEAT DOMAINS-CONTAINING PROTEIN 2; TMTC2
Asterisk 615857 2-OXOGLUTARATE- AND IRON-DEPENDENT OXYGENASE DOMAIN-CONTAINING PROTEIN 1; OGFOD1
Asterisk 615858 ROUND SPERMATID BASIC PROTEIN 1; RSBN1 ROSBIN
Number Sign 615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23
Number Sign 615860 CONE-ROD DYSTROPHY 19; CORD19
Number Sign 615861 NEPHROTIC SYNDROME, TYPE 10; NPHS10
Number Sign 615862 NEPHRONOPHTHISIS 18; NPHP18
Number Sign 615863 DIARRHEA 7; DIAR7
Asterisk 615864 CENTROSOMAL PROTEIN, 97-KD; CEP97
Asterisk 615865 NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 4; NEURL4 KIAA1787
Number Sign 615866 MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27
Asterisk 615867 TBC1 DOMAIN FAMILY, MEMBER 32; TBC1D32 BROAD-MINDED, MOUSE, HOMOLOG OF; BROMI
Asterisk 615868 SERINE PEPTIDASE INHIBITOR, KAZAL-TYPE, 6; SPINK6
Asterisk 615869 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8-LIKE 1; TNFAIP8L1 TNFAIP8-LIKE 1; TIPE1;; OXI-BETA
Asterisk 615870 INTRAFLAGELLAR TRANSPORT 27, CHLAMYDOMONAS, HOMOLOG OF; IFT27 RAB-LIKE PROTEIN 4; RABL4;; BBS19 GENE
Number Sign 615871 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24; EIEE24
Number Sign 615872 CILIARY DYSKINESIA, PRIMARY, 29; CILD29 CILIARY DYSKINESIA, PRIMARY, 29, WITHOUT SITUS INVERSUS
Number Sign 615873 HELSMOORTEL-VAN DER AA SYNDROME; HVDAS MENTAL RETARDATION, AUTOSOMAL DOMINANT 28; MRD28
Asterisk 615874 RIBOSOMAL L1 DOMAIN-CONTAINING PROTEIN 1; RSL1D1 CELLULAR SENESCENCE-INHIBITED GENE; CSIG;; PBK1
Asterisk 615875 RWD DOMAIN-CONTAINING PROTEIN 3; RWDD3 RWD-CONTAINING SUMOYLATION ENHANCER; RSUME
Asterisk 615876 RADIAL SPOKE HEAD 3, CHLAMYDOMONAS, HOMOLOG OF; RSPH3 RADIAL SPOKEHEAD-LIKE 2; RSHL2;; RADIAL SPOKE PROTEIN 3; RSP3
Number Sign 615877 MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME; MCSKS MICROPHTHALMIA OR COLOBOMA WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA;; MICROPHTHALMIA, SYNDROMIC 14; MCOPS14
Number Sign 615878 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4
Number Sign 615879 TATTON-BROWN-RAHMAN SYNDROME; TBRS
Asterisk 615880 RHO GTPase-ACTIVATING PROTEIN 39; ARHGAP39 VILSE;; KIAA1688
Number Sign 615881 PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS; TGQTL
Asterisk 615882 RAB GTPase-ACTIVATING PROTEIN 1; RABGAP1 GTPase-ACTIVATING PROTEIN, CENTROSOME-ASSOCIATED; GAPCENA;; TBC1 DOMAIN FAMILY, MEMBER 11; TBC1D11
Number Sign 615883 MYOPATHY, TUBULAR AGGREGATE, 2; TAM2
Asterisk 615884 ADIPOCYTE PLASMA MEMBRANE-ASSOCIATED PROTEIN; APMAP CHROMOSOME 20 OPEN READING FRAME 3; C20ORF3;; BSCV
Number Sign 615885 HYPOTRICHOSIS 12; HYPT12
Asterisk 615886 FAMILY WITH SEQUENCE SIMILARITY 83, MEMBER G; FAM83G PROTEIN ASSOCIATED WITH SMAD1; PAWS1
Number Sign 615887 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5; AI2A5
Number Sign 615888 BLEEDING DISORDER, PLATELET-TYPE, 18; BDPLT18
Number Sign 615889 LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP
Asterisk 615890 DYNEIN, CYTOPLASMIC 1, LIGHT INTERMEDIATE CHAIN 1; DYNC1LI1 LIGHT INTERMEDIATE CHAIN 1; LIC1;; DYNEIN LIGHT CHAIN A
Asterisk 615891 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 8, OPPOSITE STRAND; ZBTB8OS ARCHEASE; ARCH
Percent 615892 OROFACIAL CLEFT 14; OFC14
Asterisk 615893 NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 1B; NEURL1B NEURALIZED 2; NEUR2
Asterisk 615894 ZINC FINGER PROTEIN 407; ZNF407
Number Sign 615895 POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH OR WITHOUT IMMUNODEFICIENCY; PBMEI
Number Sign 615896 HYPOTRICHOSIS 13; HYPT13 HYPOTRICHOSIS WITH WOOLLY HAIR
Number Sign 615897 IMMUNODEFICIENCY 24; IMD24
Asterisk 615898 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 7; NDUFAF7 MITOCHONDRIAL DYSFUNCTION PROTEIN A, DICTYOSTELIUM, HOMOLOG OF; MIDA
Asterisk 615899 OLFACTOMEDIN-LIKE 2A; OLFML2A
Asterisk 615900 AATP/GTP-BINDING PROTEIN-LIKE 5; AGBL5 CYTOSOLIC CARBOXYPEPTIDASE 5; CCP5
Asterisk 615901 NONSPECIFIC CYTOTOXIC CELL RECEPTOR PROTEIN 1, ZEBRAFISH, HOMOLOG OF; NCCRP1 F-BOX ONLY PROTEIN 50; FBXO50
Asterisk 615902 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-DOUBLE PRIME, GAMMA; PPP2R3C G5PR
Asterisk 615903 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 10; CHCHD10
Asterisk 615904 PEROXIDASIN, DROSOPHILA, HOMOLOG-LIKE; PXDNL POLYSOMAL RIBONUCLEASE 1, XENOPUS, HOMOLOG OF; PMR1;; VASCULAR PEROXIDASE 2; VPO2
Number Sign 615905 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25
Asterisk 615906 RING FINGER PROTEIN 219; RNF219 CHROMOSOME 13 OPEN READING FRAME 7; C13ORF7
Number Sign 615907 LYMPHEDEMA, HEREDITARY, ID; LMPH1D
Asterisk 615908 MICRO RNA 520C; MIR520C miRNA520C
Number Sign 615909 DIAMOND-BLACKFAN ANEMIA 13; DBA13
Asterisk 615910 NAD(P)HX DEHYDRATASE; NAXD CARBOHYDRATE KINASE DOMAIN-CONTAINING PROTEIN; CARKD;; (S)-NADPH-HYDRATE DEHYDRATASE, ATP-DEPENDENT
Number Sign 615911 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2
Asterisk 615912 GLUTATHIONE S-TRANSFERASE C-TERMINAL DOMAIN-CONTAINING PROTEIN; GSTCD
Asterisk 615913 PEPTIDASE M20 DOMAIN-CONTAINING PROTEIN 2; PM20D2 AMINOACYLASE 1-LIKE 2; ACY1L2
Asterisk 615914 CYCLIN-DEPENDENT KINASE INHIBITOR 2A-INTERACTING PROTEIN; CDKN2AIP CDKN2A-INTERACTING PROTEIN;; COLLABORATOR OF ARF; CARF
Asterisk 615915 ZONA PELLUCIDA-LIKE DOMAIN-CONTAINING PROTEIN 1; ZPLD1
Number Sign 615916 CARDIOMYOPATHY, DILATED, 1NN; CMD1NN
Number Sign 615917 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20; COXPD20
Number Sign 615918 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21
Number Sign 615919 ATAXIA-TELANGIECTASIA-LIKE DISORDER 2; ATLD2
Asterisk 615920 PROLINE-RICH PROTEIN 11; PRR11
Asterisk 615921 PPARGC1- AND ESRR-INDUCED REGULATOR, MUSCLE, 1; PERM1 PGC1- AND ERR-INDUCED REGULATOR IN MUSCLE 1;; CHROMOSOME 1 OPEN READING FRAME 170; C1ORF170
Number Sign 615922 RETINITIS PIGMENTOSA 70; RP70
Number Sign 615923 EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE; ECDM
Number Sign 615924 ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD
Number Sign 615925 GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL; GHDP
Number Sign 615926 WEBB-DATTANI SYNDROME; WEDAS HYPOTHALAMO-PITUITARY-FRONTOTEMPORAL HYPOPLASIA WITH VISUAL AND RENAL ANOMALIES
Asterisk 615927 FAMILY WITH SEQUENCE SIMILARITY 101, MEMBER A; FAM101A CFM2
Asterisk 615928 FAMILY WITH SEQUENCE SIMILARITY 101, MEMBER B; FAM101B CFM1
Asterisk 615929 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 17; ANKRD17 GTAR
Asterisk 615930 COLORECTAL ADENOCARCINOMA HYPERMETHYLATED GENE, NONCODING; CAHM LONG INTERGENIC NONCODING RNA 468; LINC00468
Asterisk 615931 PROLINE-RICH PROTEIN 16; PRR16 LARGEN
Asterisk 615932 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 20; KCTD20
Asterisk 615933 BTB/POZ DOMAIN-CONTAINING PROTEIN 10; BTBD10
Number Sign 615934 STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI
Number Sign 615935 PANCREATIC AGENESIS 2; PAGEN2 PANCREATIC HYPOPLASIA, CONGENITAL 2
Asterisk 615936 RHO GTPase-ACTIVATING PROTEIN 42; ARHGAP42 GRAF3
Number Sign 615937 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2
Number Sign 615938 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3
Asterisk 615939 PROTEIN TYROSINE PHOSPHATASE-LIKE (PROLINE INSTEAD OF CATALYTIC ARGININE), MEMBER B; PTPLB 3-HYDROXYACYL-CoA DEHYDRATASE 2; HACD2;; VERY LONG CHAIN-3-HYDROXYACYL-CoA DEHYDRATASE 2
Asterisk 615940 PROTEIN TYROSINE PHOSPHATASE-LIKE A DOMAIN-CONTAINING PROTEIN 1; PTPLAD1 BUTYRATE-INDUCED PROTEIN 1; BIND1;; 3-HYDROXYACYL-CoA DEHYDRATASE 3; HACD3;; VERY LONG CHAIN-3-HYDROXYACYL-CoA DEHYDRATASE 3
Asterisk 615941 PROTEIN TYROSINE PHOSPHATASE-LIKE A DOMAIN-CONTAINING PROTEIN 2; PTPLAD2 3-HYDROXYACYL-CoA DEHYDRATASE 4; HACD4;; VERY LONG CHAIN-3-HYDROXYACYL-CoA DEHYDRATASE 4
Number Sign 615942 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44
Asterisk 615943 MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING, 3; MAGI3 MEMBRANE-ASSOCIATED GUANYLATE KINASE WITH INVERTED STRUCTURE 3; MAGI3;; KIAA1634
Asterisk 615944 C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 3; C2CD3
Number Sign 615945 SPINOCEREBELLAR ATAXIA 37; SCA37
Number Sign 615946 MYOPIA 24, AUTOSOMAL DOMINANT; MYP24
Number Sign 615947 HYPERLIPOPROTEINEMIA, TYPE ID
Number Sign 615948 OROFACIODIGITAL SYNDROME XIV; OFD14
Asterisk 615949 TRANSMEMBRANE PROTEIN 98; TMEM98
Asterisk 615950 SPEG COMPLEX LOCUS; SPEG AORTIC PREFERENTIALLY EXPRESSED PROTEIN 1, INCLUDED; APEG1, INCLUDED;; STRIATED MUSCLE PREFERENTIALLY EXPRESSED PROTEIN, ALPHA, INCLUDED;; SPEG-ALPHA, INCLUDED;; STRIATED MUSCLE PREFERENTIALLY EXPRESSED PROTEIN, BETA, INCLUDED;; SPEG-BETA, INCLUDED;; BRAIN PREFERENTIALLY EXPRESSED PROTEIN, INCLUDED; BPEG, INCLUDED
Asterisk 615951 ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 6; ZSWIM6 KIAA1577
Number Sign 615952 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1
Number Sign 615953 KALLIKREIN, DECREASED URINARY ACTIVITY OF
Number Sign 615954 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2 PRIMARY MACRONODULAR ADRENAL HYPERPLASIA
Asterisk 615955 COILED-COIL DOMAIN-CONTAINING PROTEIN 183; CCDC183 KIAA1984
Asterisk 615956 COILED-COIL DOMAIN-CONTAINING PROTEIN 151; CCDC151
Number Sign 615957 SPINOCEREBELLAR ATAXIA 38; SCA38
Asterisk 615958 SLX4-INTERACTING PROTEIN; SLX4IP CHROMOSOME 20 OPEN READING FRAME 94; C20ORF94
Number Sign 615959 MYOPATHY, CENTRONUCLEAR, 5; CNM5
Number Sign 615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS
Number Sign 615961 ACID-LABILE SUBUNIT DEFICIENCY; ACLSD
Number Sign 615962 GLUCOCORTICOID RESISTANCE, GENERALIZED; GCCR GLUCOCORTICOID RECEPTOR DEFICIENCY;; GCCR DEFICIENCY;; GCR DEFICIENCY;; GRL DEFICIENCY;; CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT
Number Sign 615963 VESICOURETERAL REFLUX 8; VUR8
Asterisk 615964 MIR99A-LET7C CLUSTER HOST GENE, NONCODING; MIR99AHG MEGAKARYOCYTIC ONCOGENIC NONCODING RNA; MONC;; LONG INTERGENIC NONCODING RNA 478; LINC00478;; lincRNA 478
Asterisk 615965 MIR100-LET7A2 CLUSTER HOST GENE, NONCODING; MIR100HG ADIPOGENESIS-DOWNREGULATED TRANSCRIPT 1; AGD1;; LONG NONCODING RNA, NEURONAL, 2;; lncRNA-N2
Number Sign 615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26
Asterisk 615967 CYTOCHROME P450, FAMILY 2, SUBFAMILY W, POLYPEPTIDE 1; CYP2W1
Asterisk 615968 MYCN UPSTREAM TRANSCRIPT, NONCODING; MYCNUT LONG NONCODING RNA UPSTREAM OF MYCN;; lncUSMYCN
Number Sign 615969 ALPHA-FETOPROTEIN DEFICIENCY; AFPD
Number Sign 615970 ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF; HPAFP
Caret 615971 REMOVED FROM DATABASE
Number Sign 615972 NANOPHTHALMOS 4; NNO4 NANOPHTHALMIA 4
Number Sign 615973 CONE-ROD DYSTROPHY 20; CORD20
Number Sign 615974 DEAFNESS, AUTOSOMAL RECESSIVE 102; DFNB102
Asterisk 615975 TRANSMEMBRANE PROTEIN 129; TMEM129
Asterisk 615976 FOXC1 UPSTREAM TRANSCRIPT, NONCODING; FOXCUT LONG INTERGENIC NONCODING RNA 1379; LINC01379;; TCONS_00011636
Asterisk 615977 MICRO RNA 339; MIR339 miRNA339;; MIR339-5p
Number Sign 615978 IMMUNODEFICIENCY 27B; IMD27B IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT;; IFNGR1 DEFICIENCY, AUTOSOMAL DOMINANT
Number Sign 615979 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45
Number Sign 615980 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6; FPLD6 LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS
Number Sign 615981 BARDET-BIEDL SYNDROME 2; BBS2
Number Sign 615982 BARDET-BIEDL SYNDROME 4; BBS4
Number Sign 615983 BARDET-BIEDL SYNDROME 5; BBS5
Number Sign 615984 BARDET-BIEDL SYNDROME 7; BBS7
Number Sign 615985 BARDET-BIEDL SYNDROME 8; BBS8
Number Sign 615986 BARDET-BIEDL SYNDROME 9; BBS9
Number Sign 615987 BARDET-BIEDL SYNDROME 10; BBS10
Number Sign 615988 BARDET-BIEDL SYNDROME 11; BBS11
Number Sign 615989 BARDET-BIEDL SYNDROME 12; BBS12
Number Sign 615990 BARDET-BIEDL SYNDROME 13; BBS13
Number Sign 615991 BARDET-BIEDL SYNDROME 14; BBS14
Number Sign 615992 BARDET-BIEDL SYNDROME 15; BBS15
Number Sign 615993 BARDET-BIEDL SYNDROME 16; BBS16
Number Sign 615994 BARDET-BIEDL SYNDROME 17; BBS17
Number Sign 615995 BARDET-BIEDL SYNDROME 18; BBS18
Number Sign 615996 BARDET-BIEDL SYNDROME 19; BBS19
Asterisk 615997 DEFENSIN, BETA, 119; DEFB119 DEFENSIN, BETA, 19; DEFB19 DEFENSIN, BETA, 120, INCLUDED; DEFB120, INCLUDED;; DEFENSIN, BETA, 20, INCLUDED; DEFB20, INCLUDED
Asterisk 615998 RING FINGER PROTEIN 10; RNF10 KIAA0262
Number Sign 615999 HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH FDH;; EUTHYROID HYPERTHYROXINEMIA 1
Number Sign 616000 ANALBUMINEMIA; ANALBA
Number Sign 616001 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2
Number Sign 616002 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7; FSGS7 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7
Asterisk 616003 APOPTOGENIC PROTEIN 1, MITOCHONDRIAL; APOPT1 APOPTOGENIC PROTEIN; APOP
Number Sign 616004 DYSFIBRINOGENEMIA, CONGENITAL HYPODYSFIBRINOGENEMIA, CONGENITAL, INCLUDED
Number Sign 616005 IMMUNODEFICIENCY 36; IMD36
Number Sign 616006 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2
Number Sign 616007 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS
Asterisk 616008 COP9 SIGNALOSOME, SUBUNIT 4; COPS4 CSN4
Asterisk 616009 COP9 SIGNALOSOME, SUBUNIT 7A; COPS7A CSN7
Asterisk 616010 COP9 SIGNALOSOME, SUBUNIT 7B; COPS7B
Asterisk 616011 COP9 SIGNALOSOME, SUBUNIT 8; COPS8 CSN8
Asterisk 616012 JAGUNAL, DROSOPHILA, HOMOLOG OF, 1; JAGN1
Asterisk 616013 tRNA METHYLTRANSFERASE 10, S. CEREVISIAE, HOMOLOG OF, A; TRMT10A RNA (GUANINE-9-)METHYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 2; RG9MTD2
Asterisk 616014 RING FINGER PROTEIN 25; RNF25 RING FINGER PROTEIN AO7; AO7
Asterisk 616015 RING FINGER PROTEIN 180; RNF180 RING FINGER PROTEIN IN NEURAL STEM CELLS; RINES
Asterisk 616016 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1H; PPM1H KIAA1157
Asterisk 616017 TRIPARTITE MOTIF-CONTAINING PROTEIN 69; TRIM69 TESTIS-SPECIFIC RING FINGER PROTEIN; TRIF;; RING FINGER PROTEIN 36; RNF36
Caret 616018 REMOVED FROM DATABASE
Asterisk 616019 REST COREPRESSOR 2; RCOR2
Asterisk 616020 CYSTEINE/TYROSINE-RICH PROTEIN 1; CYYR1
Asterisk 616021 CYYR1 ANTISENSE RNA 1; CYYR1AS1
Number Sign 616022 NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6
Asterisk 616023 SR-RELATED C-TERMINAL DOMAIN-ASSOCIATED FACTOR 4; SCAF4 SR-RELATED CTD-ASSOCIATED FACTOR 4;; PRE-mRNA SPLICING SR PROTEIN RA4;; KIAA1172
Asterisk 616024 SR-RELATED C-TERMINAL DOMAIN-ASSOCIATED FACTOR 8; SCAF8 SR-RELATED CTD-ASSOCIATED FACTOR 8;; PRE-mRNA-SPLICING SR PROTEIN RA8;; KIAA1116
Number Sign 616025 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5; HPMRS5
Number Sign 616026 FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4 FRTS4 WITH MODY
Asterisk 616027 ACTIN-BINDING PROTEIN ANILLIN; ANLN
Number Sign 616028 ADAMS-OLIVER SYNDROME 5; AOS5
Number Sign 616029 ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME; ECTDS
Number Sign 616030 HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA; HH22
Asterisk 616031 COILED-COIL DOMAIN-CONTAINING PROTEIN 141; CCDC141 COILED-COIL PROTEIN ASSOCIATED WITH MYOSIN II AND DISC1; CAMDI
Number Sign 616032 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8; FSGS8 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 8
Number Sign 616033 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 MSSGM
Number Sign 616034 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY; DECRD
Asterisk 616035 FORKHEAD BOX J3; FOXJ3 KIAA1041
Asterisk 616036 MICRO RNA 494; MIR494 miRNA494
Number Sign 616037 CILIARY DYSKINESIA, PRIMARY, 30; CILD30 CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS
Number Sign 616038 NEU-LAXOVA SYNDROME 2; NLS2
Number Sign 616039 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID
Number Sign 616040 MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC; CMS7 MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, WITH OR WITHOUT MOTOR NEUROPATHY; MYSPC
Asterisk 616041 THIOSULFATE SULFURTRANSFERASE (RHODANESE)-LIKE DOMAIN-CONTAINING PROTEIN 1; TSTD1 KAT
Number Sign 616042 DEAFNESS, AUTOSOMAL RECESSIVE 103; DFNB103
Asterisk 616043 PROSTATE CANCER-ASSOCIATED TRANSCRIPT 1, NONCODING; PCAT1
Number Sign 616044 DEAFNESS, AUTOSOMAL DOMINANT 65; DFNA65
Number Sign 616045 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22
Asterisk 616046 PROLINE/SERINE/THREONINE PHOSPHATASE-INTERACTING PROTEIN 2; PSTPIP2 MACROPHAGE ACTIN-ASSOCIATED TYROSINE-PHOSPHORYLATED PROTEIN; MAYP
Asterisk 616047 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 97; CFAP97 HEMINGWAY, DROSOPHILA, HOMOLOG OF; HMW;; KIAA1430
Asterisk 616048 ALU-MEDIATED CDKN1A/p21 TRANSCRIPTIONAL REGULATOR, NONCODING; APTR LONG NONCODING RNA APTR;; lncRNA APTR
Asterisk 616049 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 34, YEAST, HOMOLOG OF; TOMM34 TOM34
Number Sign 616050 AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC
Number Sign 616051 MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13
Number Sign 616052 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7; MDDGC7 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U; LGMD2U
Number Sign 616053 SPINOCEREBELLAR ATAXIA 40; SCA40
Asterisk 616054 ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 2; ELP2 STAT-INTERACTING PROTEIN 1; STATIP1
Percent 616055 EPISODIC ATAXIA, TYPE 8; EA8
Number Sign 616056 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26
Asterisk 616057 TUMOR SUPPRESSOR CANDIDATE 7, NONCODING; TUSC7 LONG NONCODING RNA LOC285194;; lncRNA LOC285194;; LSAMP ANTISENSE RNA 3; LSAMPAS3
Asterisk 616058 TCF21 ANTISENSE RNA INDUCING PROMOTER DEMETHYLATION; TARID
Number Sign 616059 MIRROR MOVEMENTS 3; MRMV3
Number Sign 616060 BLOOD GROUP, DOMBROCK SYSTEM; DO DOMBROCK BLOOD GROUP SYSTEM
Asterisk 616061 MAX DIMERIZATION PROTEIN MGA; MGA KIAA0518
Asterisk 616062 ANKYRIN REPEAT- AND LEM DOMAIN-CONTAINING PROTEIN 2; ANKLE2 LEM DOMAIN-CONTAINING PROTEIN 4; LEM4;; KIAA0692
Number Sign 616063 POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8
Asterisk 616064 TUBULOINTERSTITIAL NEPHRITIS ANTIGEN-LIKE PROTEIN 1; TINAGL1 TINAG-LIKE PROTEIN 1;; TINAG-RELATED PROTEIN; TINAGRP
Asterisk 616065 PILR-ALPHA-ASSOCIATED NEURAL PROTEIN; PIANP PILRA-ASSOCIATED NEURAL PROTEIN; PANP;; LIVER ENDOTHELIAL DIFFERENTIATION-ASSOCIATED PROTEIN, 1; LEDA1
Asterisk 616066 SPERMATOGENESIS- AND OOGENESIS-SPECIFIC BASIC HELIX-LOOP-HELIX PROTEIN 2; SOHLH2
Number Sign 616067 46,XY SEX REVERSAL 9; SRXY9 46,XY SEX REVERSAL, ZFPM2-RELATED
Asterisk 616068 HOXA CLUSTER ANTISENSE RNA 2; HOXAAS2 LONG INTERGENIC NONCODING RNA HOXAAS2;; lincRNA HOXAAS2
Number Sign 616069 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; NISBD2
Asterisk 616070 COILED-COIL DOMAIN-CONTAINING PROTEIN 113; CCDC113
Asterisk 616071 CHROMOSOME 7 OPEN READING FRAME 31; C7ORF31
Asterisk 616072 HETEROCHROMATIN PROTEIN 1-BINDING PROTEIN 3; HP1BP3 HP1-BINDING PROTEIN 74; HP1BP74
Asterisk 616073 DEP DOMAIN-CONTAINING PROTEIN 1B; DEPDC1B
Asterisk 616074 CHEMOKINE-LIKE FACTOR; CKLF HSPC224
Asterisk 616075 DEFENSIN, BETA, 121; DEFB121 DEFENSIN, BETA, 21; DEFB21
Asterisk 616076 DEFENSIN, BETA, 123; DEFB123 DEFENSIN, BETA, 23; DEFB23
Asterisk 616077 DEFENSIN, BETA, 122, PSEUDOGENE; DEFB122 DEFB122P;; DEFENSIN, BETA, 22; DEFB22;; DEFB22P
Number Sign 616078 MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29
Number Sign 616079 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES; RDGCA
Number Sign 616080 MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE; MCPH12
Number Sign 616081 PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA
Asterisk 616082 CHROMOSOME 12 OPEN READING FRAME 4; C12ORF4
Number Sign 616083 MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30
Number Sign 616084 SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD
Asterisk 616085 ZINC FINGER PROTEIN 37A; ZNF37A KOX21;; ZNF37
Asterisk 616086 SprT-LIKE N-TERMINAL DOMAIN PROTEIN; SPRTN SprT-LIKE DOMAIN AT N TERMINUS;; SPARTAN;; DNA DAMAGE-TARGETING VCP ADAPTOR C1ORF124; DVC1;; CHROMOSOME 1 OPEN READING FRAME 124; C1ORF124
Number Sign 616087 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5; NIDDM5
Asterisk 616088 CHROMOSOME 1 OPEN READING FRAME 186; C1ORF186 REGULATOR OF HUMAN ERYTHROID CELL EXPANSION; RHEX
Number Sign 616089 BLOOD GROUP, GERBICH SYSTEM; GE GERBICH BLOOD GROUP SYSTEM
Asterisk 616090 MICRO RNA 802; MIR802 miRNA802
Asterisk 616091 METHYLTRANSFERASE-LIKE 17; METTL17 METHYLTRANSFERASE 11 DOMAIN-CONTAINING PROTEIN 1; METT11D1
Asterisk 616092 FOCALLY AMPLIFIED LONG NONCODING RNA IN EPITHELIAL CANCER; FALEC FOCALLY AMPLIFIED lncRNA ON CHROMOSOME 1; FAL1
Number Sign 616093 BLOOD GROUP, ABO SYSTEM ABO BLOOD GROUP SYSTEM
Number Sign 616094 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED
Number Sign 616095 MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY; MCT1D
Asterisk 616096 MYOSIN HEAVY CHAIN-ASSOCIATED RNA TRANSCRIPT, NONCODING; MHRT LONG NONCODING RNA MHRT;; lncRNA MHRT;; MYHEART
Asterisk 616097 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ASSEMBLY FACTOR 3; UQCC3 CHROMOSOME 11 OPEN READING FRAME 83; C11ORF83
Number Sign 616098 IMMUNODEFICIENCY 37; IMD37
Number Sign 616099 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR; PPKWH
Number Sign 616100 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION; CHAI
Asterisk 616101 TRANSMEMBRANE PROTEIN 240; TMEM240 CHROMOSOME 1 OPEN READING FRAME 70; C1ORF70
Asterisk 616102 THIOREDOXIN-RELATED TRANSMEMBRANE PROTEIN 3; TMX3 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 10; TXNDC10;; KIAA1830
Asterisk 616103 LEUCINE-RICH REPEAT, IMMUNOGLOBULIN-LIKE, AND TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 1; LRIT1 PAL
Asterisk 616104 RBPJ-LIKE PROTEIN; RBPJL RBPL;; SUHL
Asterisk 616105 SORTING NEXIN 14; SNX14
Number Sign 616106 PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO; PSORS15
Asterisk 616107 FATTY ACYL CoA REDUCTASE 1; FAR1 MALE STERILITY DOMAIN-CONTAINING PROTEIN 2; MLSTD2
Number Sign 616108 RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME; RDJCSS
Asterisk 616109 CHROMOSOME 11 OPEN READING FRAME 80; C11ORF80 TOPOISOMERASE VI-B LIKE; TOPOVIBL;; TOPOVIB;; TOP6BL FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(11)(q13.3), INCLUDED; FRA11A, INCLUDED
Asterisk 616110 DELTEX, DROSOPHILA, HOMOLOG OF, 4; DTX4 RING FINGER PROTEIN 155; RNF155;; KIAA0937
Number Sign 616111 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9; MC3DN9
Asterisk 616112 LEIOMODIN 3; LMOD3
Number Sign 616113 POLYENDOCRINE-POLYNEUROPATHY SYNDROME; PEPNS
Asterisk 616114 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 6; CHD6 CHD5;; RIGB
Number Sign 616115 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4
Number Sign 616116 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46; MRT46
Number Sign 616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; CCDD
Number Sign 616118 MACULAR DEGENERATION, EARLY-ONSET; EOMD
Asterisk 616119 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 126; CFAP126 FLATTOP; FLTP
Asterisk 616120 CWF19-LIKE PROTEIN 1; CWF19L1 C19L1
NULL 616121 GTPase, VERY LARGE INTERFERON-INDUCIBLE, PSEUDOGENE 1; GVINP1 VERY LARGE INDUCIBLE GTPase 1; VLIG1
Asterisk 616122 FAMILY WITH SEQUENCE SIMILARITY 86, MEMBER B1; FAM86B1
Asterisk 616123 FAMILY WITH SEQUENCE SIMILARITY 86, MEMBER B2; FAM86B2
Asterisk 616124 FAMILY WITH SEQUENCE SIMILARITY 86, MEMBER C1; FAM86C1 FAM86C
Asterisk 616125 PROTEIN ARGININE METHYLTRANSFERASE 9; PRMT9 PRMT10
Number Sign 616126 IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION; IMD38 IMMUNODEFICIENCY 38, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;; ISG15 DEFICIENCY, AUTOSOMAL RECESSIVE
Number Sign 616127 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17
Asterisk 616128 FAMILY WITH SEQUENCE SIMILARITY 89, MEMBER B; FAM89B MAMMARY TUMOR VIRUS RECEPTOR, MOUSE, HOMOLOG OF; MTVR;; LEUCINE REPEAT ADAPTOR PROTEIN, 25-KD; LRAP25
Asterisk 616129 LEUCINE-RICH ADAPTOR PROTEIN 1; LURAP1 LEUCINE REPEAT ADAPTOR PROTEIN, 35-KD, A; LRAP35A
Asterisk 616130 LEUCINE-RICH ADAPTOR PROTEIN 1-LIKE; LURAP1L LURAP1-LIKE;; LEUCINE REPEAT ADAPTOR PROTEIN, 35-KD, B; LRAP35B
Asterisk 616131 GASTRIC CANCER-ASSOCIATED TRANSCRIPT 2, NONCODING; GACAT2 MTCL1 ANTISENSE RNA 1; MTCL1AS1;; LONG INTERGENIC NONCODING RNA 717;; lincRNA717
Asterisk 616132 GASTRIC CANCER-ASSOCIATED TRANSCRIPT 3, NONCODING; GACAT3 LONG NONCODING RNA AC130170;; lncRNA AC130710;; LINC01458
Asterisk 616133 MPV17-LIKE PROTEIN 2; MPV17L2
Asterisk 616134 H3 HISTONE, FAMILY 3C; H3F3C H3.5
Asterisk 616135 INTERFERON-INDUCED PROTEIN WITH TETRATRICOPEPTIDE REPEATS 5; IFIT5 RETINOIC ACID- AND INTERFERON-INDUCED PROTEIN, 58-KD; RI58;; INTERFERON-STIMULATED PROTEIN, 58-KD; ISG58
Asterisk 616136 RING FINGER PROTEIN 220; RNF220
Asterisk 616137 MICRO RNA 873; MIR873 miRNA873
Number Sign 616138 PERRAULT SYNDROME 5; PRLTS5
Number Sign 616139 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27; EIEE27
Number Sign 616140 LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9
Asterisk 616141 H2A HISTONE FAMILY, MEMBER Y2; H2AFY2 MACRO H2A2
Asterisk 616142 FAMILY WITH SEQUENCE SIMILARITY 98, MEMBER B; FAM98B
Asterisk 616143 LYSOPHOSPHOLIPASE II; LYPLA2 ACYL PROTEIN THIOESTERASE 2; APT2
Asterisk 616144 WD REPEAT-CONTAINING PROTEIN 73; WDR73 HSPC264
Number Sign 616145 CATEL-MANZKE SYNDROME; CATMANS HYPERPHALANGY-CLINODACTYLY OF INDEX FINGER WITH PIERRE ROBIN SYNDROME;; PIERRE ROBIN SYNDROME WITH HYPERPHALANGY AND CLINODACTYLY;; INDEX FINGER ANOMALY WITH PIERRE ROBIN SYNDROME;; PALATODIGITAL SYNDROME, CATEL-MANZKE TYPE;; MICROGNATHIA DIGITAL SYNDROME
Asterisk 616146 TDP-GLUCOSE 4,6-DEHYDRATASE; TGDS SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 2E, MEMBER 1; SDR2E1;; GROWTH-INHIBITING PROTEIN 21
Asterisk 616147 CYCLIN-DEPENDENT KINASE 15; CDK15 PFTAIRE PROTEIN KINASE 2; PFTAIRE2;; ALS2 CHROMOSOME REGION GENE 7; ALS2CR7
Asterisk 616148 TRIPARTITE MOTIF-CONTAINING PROTEIN 59; TRIM59 RING FINGER PROTEIN 104; RNF104;; MOUSE RING FINGER 1, HOMOLOG OF; MRF1 IFT80-LONG, INCLUDED; IFT80L, INCLUDED
Asterisk 616149 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PYRIMIDINE NUCLEOTIDE TRANSPORTER), MEMBER 36; SLC25A36 PYRIMIDINE NUCLEOTIDE CARRIER 2; PNC2
Asterisk 616150 SOLUTE CARRIER FAMILY 25, MEMBER 48; SLC25A48
Number Sign 616151 MACULAR DYSTROPHY, VITELLIFORM, 4; VMD4
Number Sign 616152 MACULAR DYSTROPHY, VITELLIFORM, 5; VMD5
Asterisk 616153 SOLUTE CARRIER FAMILY 25, MEMBER 52; SLC25A52 MITOCHONDRIAL CARRIER TRIPLE REPEAT 2; MCART2
Number Sign 616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD
Number Sign 616155 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S
Asterisk 616156 FATTY ACYL CoA REDUCTASE 2; FAR2 MALE STERILITY DOMAIN-CONTAINING PROTEIN 1; MLSTD1
Asterisk 616157 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 13; DHRS13 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 7C, MEMBER 5; SDR7C5
Number Sign 616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31
Asterisk 616159 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 11; DHRS11 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 24C, MEMBER 1; SDR24C1
Asterisk 616160 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 7B; DHRS7B SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 32C, MEMBER 1; SDR32C1
Asterisk 616161 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 7C; DHRS7C SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 32C, MEMBER 2; SDR32C2
Asterisk 616162 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 39U, MEMBER 1; SDR39U1
Asterisk 616163 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 12; DHRS12 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 40C, MEMBER 1; SDR40C1
Asterisk 616164 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 42E, MEMBER 1; SDR42E1
Number Sign 616165 NEMALINE MYOPATHY 10; NEM10
Number Sign 616166 AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 AORTIC ANEURYSM, THORACIC, WITH OR WITHOUT AORTIC DISSECTION
Asterisk 616167 DCN1 DOMAIN-CONTAINING PROTEIN 3; DCUN1D3 SQUAMOUS CELL CARCINOMA-RELATED ONCOGENE 3; SCCRO3
Asterisk 616168 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 6, YEAST, HOMOLOG OF; TOMM6 TOM6
Asterisk 616169 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 5, YEAST, HOMOLOG OF; TOMM5 TOM5
Number Sign 616170 MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT; CCMD
Number Sign 616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2
Number Sign 616172 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9 GEFS+, TYPE 9; GEFS+9
Asterisk 616173 NUCLEAR SPECKLE SPLICING REGULATORY PROTEIN 1; NSRP1 NUCLEAR SPECKLE-RELATED PROTEIN, 70-KD; NSRP70;; COILED-COIL DOMAIN-CONTAINING PROTEIN 55; CCDC55
Asterisk 616174 CYTOSKELETON-ASSOCIATED PROTEIN 2-LIKE; CKAP2L RADIAL FIBER AND MITOTIC SPINDLE PROTEIN; RADMIS
Asterisk 616175 UBIQUITIN-CONJUGATING ENZYME E2J 1; UBE2J1 UBC6E
Number Sign 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19
Asterisk 616177 DDRGK DOMAIN-CONTAINING PROTEIN 1; DDRGK1 DASHURIN;; UFM1-BINDING PROTEIN CONTAINING A PCI DOMAIN 1; UFBP1;; CHROMOSOME 20 OPEN READING FRAME 116; C20ORF116
Asterisk 616178 TRANSMEMBRANE PROTEIN 132E; TMEM132E
Asterisk 616179 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 16; TXNDC16 KIAA1344;; ERp90
Asterisk 616180 GOLGIN A8 FAMILY, MEMBER A; GOLGA8A KIAA0855
Asterisk 616181 ZINC FINGER PROTEIN 713; ZNF713 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(7)(p11.2), INCLUDED; FRA7A, INCLUDED
Percent 616182 CHRONIC MOUNTAIN SICKNESS, SUSCEPTIBILITY TO MONGE DISEASE
Asterisk 616183 TRANSMEMBRANE PROTEIN 107; TMEM107 SCHLEI, MOUSE, HOMOLOG OF
Asterisk 616184 CLUSTERED MITOCHONDRIA, D. DISCOIDEUM, HOMOLOG OF; CLUH cluA, D. DISCOIDEUM, HOMOLOG OF;; CLU1, S. CEREVISIAE, HOMOLOG OF; CLU1;; KIAA0664
Number Sign 616185 OVARIAN DYSGENESIS 4; ODG4
Asterisk 616186 H19/IGF2-IMPRINTING CONTROL REGION ICR1;; H19 ICR
Number Sign 616187 EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7
Number Sign 616188 RETINAL DYSTROPHY AND OBESITY; RDOB
Asterisk 616189 CAP METHYLTRANSFERASE 1; CMTR1 METHYLTRANSFERASE 1; MTR1;; INTERFERON-STIMULATED GENE 95; ISG95;; FtsJ METHYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 2; FTSJD2;; KIAA0082
Asterisk 616190 CAP METHYLTRANSFERASE 2; CMTR2 METHYLTRANSFERASE 2; MTR2;; FtsJ METHYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; FTSJD1
Asterisk 616191 DISCS LARGE-ASSOCIATED PROTEIN 4; DLGAP4 SAP90/PSD95-ASSOCIATED PROTEIN 4; SAPAP4;; KIAA0964 DLGAP4 NONCODING RNAS, INCLUDED;; DLGAP ncRNAS, INCLUDED
Number Sign 616192 ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS; ACPHD
Number Sign 616193 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47
Asterisk 616194 UTP15, U3 SMALL NUCLEOLAR RIBONUCLEOPROTEIN, S. CEREVISIAE, HOMOLOG OF; UTP15 U3 SMALL NUCLEOLAR RNA-ASSOCIATED PROTEIN 15
Asterisk 616195 WD REPEAT-CONTAINING PROTEIN 43; WDR43 UTP5;; KIAA0007
Asterisk 616196 DDB1- AND CUL4-ASSOCIATED FACTOR 13; DCAF13 WD REPEAT- AND SOF1 DOMAIN-CONTAINING PROTEIN 1; WDSOF1
Asterisk 616197 NUCLEOLAR PROTEIN 10; NOL10 POLYGLUTAMINE-BINDING PROTEIN 5; PQBP5
Number Sign 616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23
Number Sign 616199 POLYGLUCOSAN BODY MYOPATHY 2; PGBM2
Number Sign 616200 RUIJS-AALFS SYNDROME; RJALS
Number Sign 616201 CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID
Number Sign 616202 CEREBELLOFACIODENTAL SYNDROME; CFDS CEREBELLAR-FACIAL-DENTAL SYNDROME
Asterisk 616203 SOLUTE CARRIER FAMILY 38, MEMBER 9; SLC38A9 UPREGULATED IN LUNG CANCER 11; URLC11
Number Sign 616204 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18
Asterisk 616205 MICRO RNA 648; MIR648 miRNA648
Asterisk 616206 NEUROBLASTOMA-ASSOCIATED TRANSCRIPT 1, NONCODING; NBAT1 LONG NONCODING RNA NBAT1;; lncRNA NBAT1;; CANCER SUSCEPTIBILITY CANDIDATE 14; CASC14
Asterisk 616207 NEGATIVE REGULATOR OF ANTIVIRAL RESPONSE, NONCODING; NRAV LONG NONCODING RNA NRAV;; lncRNA NRAV;; DYNLL1 ANTISENSE RNA 1; DYNLL1AS1
Number Sign 616208 AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS22
Number Sign 616209 MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT; IMMD
Asterisk 616210 CHROMOSOME 4 OPEN READING FRAME 46; C4ORF46 RENAL CANCER DIFFERENTIATION GENE 1; RCDG1
Number Sign 616211 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28
Number Sign 616212 LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6
Asterisk 616213 ZINC FINGER PROTEIN 292; ZNF292 ZFP292;; ZN16;; KIAA0530
Number Sign 616214 HYPERPROINSULINEMIA
Asterisk 616215 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 1; CREB3L1 OLD ASTROCYTE SPECIFICALLY INDUCED SUBSTANCE; OASIS
Number Sign 616216 THROMBOCYTOPENIA 5; THC5 THROMBOCYTOPENIA 5 WITH INCREASED SUSCEPTIBILITY TO MALIGNANCY;; THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 5
Number Sign 616217 NEPHRONOPHTHISIS 19; NPHP19
Asterisk 616218 TBC1 DOMAIN FAMILY, MEMBER 13; TBC1D13
Number Sign 616219 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; CFEOM5
Number Sign 616220 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9; FSGS9 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 9
Number Sign 616221 AMELOGENESIS IMPERFECTA, TYPE IH; AI1H
Number Sign 616222 TEMPLE SYNDROME UNIPARENTAL DISOMY, MATERNAL, CHROMOSOME 14
Asterisk 616223 CHROMOSOME 19 OPEN READING FRAME 80; C19ORF80 ANGIOPOIETIN-LIKE PROTEIN 8; ANGPTL8;; LIPASE INHIBITION PROTEIN; LIPASIN
Number Sign 616224 MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22 PREPL DEFICIENCY
Asterisk 616225 AUTOPHAGY 2, S. CEREVISIAE, HOMOLOG OF, A; ATG2A KIAA0404
Asterisk 616226 AUTOPHAGY 2, S. CEREVISIAE, HOMOLOG OF, B; ATG2B
Number Sign 616227 MYASTHENIC SYNDROME, CONGENITAL, 15; CMS15 MYASTHENIC SYNDROME, CONGENITAL, WITHOUT TUBULAR AGGREGATES; CMSWTA
Number Sign 616228 MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 3; CMSTA3
Number Sign 616229 OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 OI, TYPE XVI;; CHROMOSOME 11p11.2 DELETION SYNDROME, 91.3-KB
Number Sign 616230 EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8
Number Sign 616231 MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES; VMCQA
Asterisk 616232 MEIOTIC KINETOCHORE FACTOR; MEIKIN MEIOSIS-SPECIFIC KINETOCHORE PROTEIN
Caret 616233 MOVED TO 614881
Asterisk 616234 WD REPEAT- AND COILED-COIL-CONTAINING PROTEIN; WDCP CHROMOSOME 2 OPEN READING FRAME 44; C2ORF44
Asterisk 616235 KATANIN, p80 SUBUNIT, B-LIKE 1; KATNBL1 KATNB1-LIKE PROTEIN 1;; CHROMOSOME 15 OPEN READING FRAME 29; C15ORF29
Asterisk 616236 CHONDROADHERIN-LIKE; CHADL
Asterisk 616237 KINASE NONCATALYTIC C-LOBE DOMAIN-CONTAINING PROTEIN 1; KNDC1 KIND-CONTAINING PROTEIN 1;; VERY KIND PROTEIN; VKIND;; RASGEF DOMAIN-CONTAINING FAMILY, MEMBER 2; RASGEF2;; KIAA1768
Asterisk 616238 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 49; ZBTB49 ZINC FINGER PROTEIN 509; ZNF509
Number Sign 616239 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24
Asterisk 616240 OLIGODENDROCYTE MATURATION-ASSOCIATED LONG INTERGENIC NONCODING RNA; OLMALINC LONG INTERGENIC NONCODING RNA 263; LINC00263;; lincRNA OLMALINC OLMALINC ANTISENSE RNA, INCLUDED; OLMALINCAS, INCLUDED
Asterisk 616241 METEORIN-LIKE PROTEIN; METRNL SUBFATIN
Asterisk 616242 TRANSMEMBRANE AND COILED-COIL DOMAIN FAMILY, MEMBER 1; TMCC1 KIAA0779
Asterisk 616243 KIAA0922 GENE; KIAA0922 TRANSMEMBRANE PROTEIN 131-LIKE; TMEM131L
Asterisk 616244 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 2; CHCHD2
Asterisk 616245 ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 4; EMC4 ER MEMBRANE PROTEIN COMPLEX, SUBUNIT 4;; TRANSMEMBRANE PROTEIN 85; TMEM85;; PROLIFERATION-INDUCING GENE 17; PIG17
Asterisk 616246 MYOREGULIN; MRLN MLN;; LINC00948
Number Sign 616247 LONG QT SYNDROME 14; LQT14
Number Sign 616248 LETHAL CONGENITAL CONTRACTURE SYNDROME 6; LCCS6
Number Sign 616249 LONG QT SYNDROME 15; LQT15
Asterisk 616250 NACHT DOMAIN- AND WD REPEAT-CONTAINING PROTEIN 1; NWD1
Asterisk 616251 TRPM8 CHANNEL-ASSOCIATED FACTOR 1; TCAF1 FAMILY WITH SEQUENCE SIMILARITY 115, MEMBER A; FAM115A;; KIAA0738
Asterisk 616252 TRPM8 CHANNEL-ASSOCIATED FACTOR 2; TCAF2 FAMILY WITH SEQUENCE SIMILARITY 115, MEMBER C; FAM115C;; FAMILY WITH SEQUENCE SIMILARITY 139, MEMBER A; FAM139A
Asterisk 616253 GS HOMEOBOX 2; GSX2 GENETIC-SCREENED HOMEOBOX 2; GSH2
Asterisk 616254 CASEINOLYTIC PEPTIDASE B; CLPB ClpB, E. COLI, HOMOLOG OF;; SUPPRESSOR OF POTASSIUM TRANSPORT DEFECT 3; SKD3
Number Sign 616255 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES; SNSK
Asterisk 616256 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER G; CLEC4G LIVER AND LYMPH NODE SINUSOIDAL ENDOTHELIAL CELL C-TYPE LECTIN; LSECTIN
Asterisk 616257 FK506-BINDING PROTEIN 9; FKBP9 FK506-BINDING PROTEIN, 60-KD; FKBP60;; FK506-BINDING PROTEIN, 63-KD; FKBP63
Number Sign 616258 MECKEL SYNDROME 12; MKS12
Asterisk 616259 SMALL NUCLEOLAR RNA HOST GENE 14; SNHG14 LARGE NONCODING ANTISENSE TRANSCRIPT, MOUSE, HOMOLOG OF; LNCAT;; UBE3A ANTISENSE TRANSCRIPT; UBE3AAS; UBE3AATS
Number Sign 616260 TENORIO SYNDROME; TNORS OVERGROWTH, MACROCEPHALY, AND INTELLECTUAL DISABILITY SYNDROME
Asterisk 616261 PSEUDOURIDYLATE SYNTHASE 7, PUTATIVE; PUS7 KIAA1897
Asterisk 616262 KELCH-LIKE 21; KLHL21 KIAA0469
Number Sign 616263 NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD
Asterisk 616264 MAF TRANSCRIPTIONAL REGULATOR RNA, NONCODING; MAFTRR LONG INTERGENIC NONCODING RNA MAF4;; lincRNA MAF4;; lincMAF4
Number Sign 616265 PEELING SKIN SYNDROME 3; PSS3
Number Sign 616266 CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD
Number Sign 616267 ATAXIA-OCULOMOTOR APRAXIA 4; AOA4
Number Sign 616268 MENTAL RETARDATION, AUTOSOMAL DOMINANT 32; MRD32
Number Sign 616269 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48; MRT48
Number Sign 616270 AMELOGENESIS IMPERFECTA, TYPE IF; AI1F AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IF; AI1F
Number Sign 616271 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN 3-METHYLGLUTACONIC ACIDURIA, TYPE VII; MGCA7
Asterisk 616272 MICRO RNA 520G; MIR520G miRNA520G
Asterisk 616273 PROSTATE CANCER-ASSOCIATED TRANSCRIPT 29, NONCODING; PCAT29 LONG NONCODING RNA PCAT29;; lncRNA PCAT29
Asterisk 616274 MICRO RNA 4276; MIR4276 miRNA4276
Asterisk 616275 FAMILY WITH SEQUENCE SIMILARITY 136, MEMBER A; FAM136A
Number Sign 616276 COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7
Number Sign 616277 MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D
Number Sign 616278 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5
Number Sign 616279 CATARACT 43; CTRCT43
Number Sign 616280 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U; CMT2U CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2U;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U
Number Sign 616281 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49
Number Sign 616282 SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT; SPG73
Asterisk 616283 PSEUDOURIDYLATE SYNTHASE 3; PUS3
Asterisk 616284 FILAGGRIN FAMILY MEMBER 2; FLG2 FILAGGRIN 2;; IFAPSORIASIN; IFPS
Asterisk 616285 FORMIN-LIKE 2; FMNL2 KIAA1902
Number Sign 616286 LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7
Number Sign 616287 LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8
Asterisk 616288 FORMIN-LIKE 3; FMNL3 FRL2
Number Sign 616289 OPTIC ATROPHY 9; OPA9
Asterisk 616290 ZINC FINGER PROTEIN 658; ZNF658
Number Sign 616291 LICHTENSTEIN-KNORR SYNDROME; LIKNS SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 19; SCAR19
Asterisk 616292 STABILIZER OF AXONEMAL MICROTUBULES 1; SAXO1 FAMILY WITH SEQUENCE SIMILARITY 154, MEMBER A; FAM154A
Asterisk 616293 HORNERIN; HRNR
Number Sign 616294 COLE-CARPENTER SYNDROME 2; CLCRP2
Number Sign 616295 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS; PLACK
Asterisk 616296 MULTIPLE C2 DOMAINS-CONTAINING TRANSMEMBRANE PROTEIN 1; MCTP1
Asterisk 616297 MULTIPLE C2 DOMAINS-CONTAINING TRANSMEMBRANE PROTEIN 2; MCTP2
Number Sign 616298 SINGLETON-MERTEN SYNDROME 2; SGMRT2
Number Sign 616299 LIPOYLTRANSFERASE 1 DEFICIENCY; LIPT1D
Number Sign 616300 SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13
Asterisk 616301 CD300 ANTIGEN-LIKE FAMILY, MEMBER D; CD300LD CD300D
Asterisk 616302 FORKHEAD BOX K1; FOXK1 MYOCYTE NUCLEAR FACTOR; MNF
Asterisk 616303 WD REPEAT-CONTAINING PROTEIN 91; WDR91 SORF1, C. ELEGANS, HOMOLOG OF; SORF1
Number Sign 616304 MYASTHENIC SYNDROME, CONGENITAL, 17; CMS17
Asterisk 616305 FERM DOMAIN-CONTAINING PROTEIN 4A; FRMD4A KIAA1294
Asterisk 616306 FIBRINOGEN SILENCER-BINDING PROTEIN; FSBP
Number Sign 616307 SENIOR-LOKEN SYNDROME 8; SLSN8
Asterisk 616308 BETA-GLOBIN LOCUS TRANSCRIPT 3, NONCODING; BGLT3 LONG NONCODING RNA BGL3;; lncRNA BGL3;; LINC01083
Asterisk 616309 FERM DOMAIN-CONTAINING PROTEIN 5; FRMD5
Asterisk 616310 RHO GTPase-ACTIVATING PROTEIN 11B; ARHGAP11B FAMILY WITH SEQUENCE SIMILARITY 7, MEMBER B1; FAM7B1
Number Sign 616311 MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33
Asterisk 616312 LEM DOMAIN-CONTAINING PROTEIN 2; LEMD2 NUCLEAR ENVELOPE TRANSMEMBRANE PROTEIN 25; NET25;; LEM2
Number Sign 616313 MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A
Number Sign 616314 MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C
Asterisk 616315 PARALOG OF XRCC4 AND XLF; PAXX CHROMOSOME 9 OPEN READING FRAME 142; C9ORF142;; XRCC4-LIKE SMALL PROTEIN; XLS
Asterisk 616316 FAMILY WITH SEQUENCE SIMILARITY 168, MEMBER A; FAM168A TONGUE CANCER CHEMOTHERAPY RESISTANCE-ASSOCIATED PROTEIN 1; TCRP1;; KIAA0280
Asterisk 616317 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE DOMAIN-CONTAINING PROTEIN 1; GDPD1 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 4; GDE4
Asterisk 616318 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE DOMAIN-CONTAINING PROTEIN 3; GDPD3 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 7; GDE7
Asterisk 616319 RING FINGER PROTEIN 138; RNF138 NEMO-LIKE KINASE-ASSOCIATED RING FINGER PROTEIN; NARF;; NLK-ASSOCIATED RING FINGER PROTEIN
Asterisk 616320 FUMARYLACETOACETATE HYDROLASE DOMAIN-CONTAINING PROTEIN 1; FAHD1 FAH DOMAIN-CONTAINING PROTEIN 1;; FLJ36880
Number Sign 616321 MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A
Number Sign 616322 MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL; CMS3B
Number Sign 616323 MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C
Number Sign 616324 MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B
Number Sign 616325 MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS9
Number Sign 616326 MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 MYASTHENIC SYNDROME, CONGENITAL, Ie, FORMERLY; CMS1E, FORMERLY;; CMS Ie, FORMERLY
Asterisk 616327 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1 CAMP; CHAMP;; ZINC FINGER PROTEIN 828; ZNF828;; CHROMOSOME 13 OPEN READING FRAME 8; C13ORF8;; KIAA1802
Asterisk 616328 LONG INTERGENIC NONCODING RNA PINKY lincRNA PINKY; PNKY
Number Sign 616329 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13 MODY, TYPE 13
Number Sign 616330 MYASTHENIC SYNDROME, CONGENITAL, 18; CMS18 MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA
Number Sign 616331 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2
Asterisk 616332 ACIDIC RESIDUE METHYLTRANSFERASE 1; ARMT1 CHROMOSOME 6 OPEN READING FRAME 211; C6ORF211
Asterisk 616333 WNT SIGNALING PATHWAY ACTIVATING NONCODING RNA; WSPAR LONG NONCODING RNA WSPAR;; lncRNA WSPAR;; lncTCF7
Asterisk 616334 TRANSMEMBRANE PROTEIN 100; TMEM100
Number Sign 616335 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3
Asterisk 616336 ALDO-KETO REDUCTASE FAMILY 1, MEMBER B15; AKR1B15 AKR1B10-LIKE; AKR1B10L;; AKR1R1B7
Asterisk 616337 SUPPRESSOR OF CYTOKINE SIGNALING 4; SOCS4 SUPPRESSOR OF CYTOKINE SIGNALING 7; SOCS7
Asterisk 616338 SOX2 OVERLAPPING TRANSCRIPT, NONCODING; SOX2OT NONCODING RNA 43; NCRNA00043
Number Sign 616339 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29; EIEE29
Number Sign 616340 DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67
Number Sign 616341 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30
Number Sign 616342 LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7
Asterisk 616343 TUMOR PROTEIN p53 PATHWAY COREPRESSOR 1, NONCODING; TP53COR1 LONG INTERGENIC NONCODING RNA TP53COR1;; lincRNA TP53COR1;; lincRNA-p21
Asterisk 616344 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 23-LIKE; TTC23L TTC23-LIKE
Number Sign 616345 IMMUNODEFICIENCY 39; IMD39
Number Sign 616346 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31
Asterisk 616347 PR DOMAIN-CONTAINING PROTEIN 11; PRDM11 PFM8
Asterisk 616348 ZINC FINGER PROTEIN 695; ZNF695 SBZF3
Asterisk 616349 SORBIN AND SH3 DOMAINS-CONTAINING PROTEIN 2; SORBS2 ARG-BINDING PROTEIN 2; ARGBP2;; KIAA0777
Asterisk 616350 PROMOTER OF MAT2A ANTISENSE RADIATION-INDUCED CIRCULATING LONG NONCODING RNA; PARTICL LONG NONCODING RNA PARTICL;; lncRNA PARTICL;; PARTICLE
Number Sign 616351 MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34
Asterisk 616352 ACYL-CoA-BINDING DOMAIN-CONTAINING PROTEIN 6; ACBD6
Number Sign 616353 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6
Number Sign 616354 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20
Number Sign 616355 MENTAL RETARDATION, AUTOSOMAL DOMINANT 35; MRD35
Asterisk 616356 MICRO RNA 31 HOST GENE, NONCODING; MIR31HG MIR31 HOST GENE;; LONG NONCODING RNA MIR31HG;; lncRNA MIR31HG;; LOC554202
Number Sign 616357 DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40
Asterisk 616358 MICRO RNA 379; MIR379 miRNA379
Asterisk 616359 COQ5, S. CEREVISIAE, HOMOLOG OF; COQ5
Asterisk 616360 TRANSMEMBRANE PROTEIN 135; TMEM135 PEROXISOMAL MEMBRANE PROTEIN 52; PMP52
Percent 616361 PARKINSON DISEASE 21; PARK21
Number Sign 616362 MENTAL RETARDATION, AUTOSOMAL DOMINANT 36; MRD36
Asterisk 616363 SMALL PROLINE-RICH PROTEIN 4; SPRR4
Number Sign 616364 WHITE-SUTTON SYNDROME; WHSUS MENTAL RETARDATION, AUTOSOMAL DOMINANT 37; MRD37
Asterisk 616365 SCY1-LIKE PROTEIN 2; SCYL2 SCY1, S. CEREVISIAE, HOMOLOG OF, 2;; COATED VESICLE-ASSOCIATED KINASE, 104-KD; CVAK104;; KIAA1360
Number Sign 616366 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32
Number Sign 616367 MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA
Number Sign 616368 CHOPS SYNDROME; CHOPS COGNITIVE IMPAIRMENT, COARSE FACIES, HEART DEFECTS, OBESITY, PULMONARY INVOLVEMENT, SHORT STATURE, AND SKELETAL DYSPLASIA
Caret 616369 MOVED TO 243605
Number Sign 616370 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4
Number Sign 616371 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4
Asterisk 616372 DDB1- AND CUL4-ASSOCIATED FACTOR 4; DCAF4 WD REPEAT-CONTAINING PROTEIN 21; WDR21;; WDR21A
Number Sign 616373 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3
Asterisk 616374 BEN DOMAIN-CONTAINING PROTEIN 3; BEND3 KIAA1553
Asterisk 616375 UNKEMPT FAMILY ZINC FINGER PROTEIN; UNK UNKEMPT;; ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 5; ZC3HDC5; ZC3H5;; KIAA1753
Asterisk 616376 MICRO RNA 656; MIR656 miRNA656
Asterisk 616377 PROLINE DEHYDROGENASE (OXIDASE) 2; PRODH2 HYDROXYPROLINE OXIDASE;; HYDROXYPROLINE DEHYDROGENASE; HYPDH
Asterisk 616378 UBX DOMAIN PROTEIN 1; UBXN1 SAPK SUBSTRATE PROTEIN 1; SAKS1
Asterisk 616379 UBX DOMAIN PROTEIN 7; UBXN7 KIAA0794
Asterisk 616380 LAMININ, BETA-4; LAMB4
Asterisk 616381 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 8; ZCCHC8
Asterisk 616382 URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER A3; UGT2A3 UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER A3
Asterisk 616383 URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 3 FAMILY, MEMBER A1; UGT3A1 UDP GLUCURONOSYLTRANSFERASE 3 FAMILY, MEMBER A1
Asterisk 616384 URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 3 FAMILY, MEMBER A2; UGT3A2 UDP GLUCURONOSYLTRANSFERASE 3 FAMILY, MEMBER A2
Asterisk 616385 LONG INTERGENIC NONCODING RNA 1018; LINC01018 lincRNA 1018;; SRHC
Asterisk 616386 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 17; KCTD17
Asterisk 616387 DOWNREGULATED RNA IN ANDROGEN-INDEPENDENT CELLS, NONCODING; DRAIC LONG NONCODING RNA DRAIC;; lncRNA DRAIC
Asterisk 616388 UBIQUITIN DOMAIN-CONTAINING PROTEIN 1; UBTD1
Number Sign 616389 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G; CSNB1G
Number Sign 616390 TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2
Asterisk 616391 RAN-BINDING PROTEIN 3-LIKE; RANBP3L RANBP3-LIKE
NULL 616392 SKINT1-LIKE PSEUDOGENE; SKINTL SKINT1L;; SKINTP
Number Sign 616393 MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 PSYCHOMOTOR RETARDATION, EPILEPSY, AND LANGUAGE DISABILITY SYNDROME; PRELDS
Number Sign 616394 RETINITIS PIGMENTOSA 71; RP71
Number Sign 616395 TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 TRICHOTHIODYSTROPHY, COMPLEMENTATION GROUP A; TTDA
Asterisk 616396 SEX COMB ON MIDLEG, DROSOPHILA, HOMOLOG OF, 1; SCMH1
Asterisk 616397 PEROXISOMAL MEMBRANE PROTEIN 4; PXMP4 PEROXISOMAL MEMBRANE PROTEIN, 24-KD; PMP24
Number Sign 616398 DYSTONIA 26, MYOCLONIC; DYT26
Number Sign 616399 BRUGADA SYNDROME 9; BRGDA9
Number Sign 616400 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2; FNEPPK2
Asterisk 616401 SPINDLE APPARATUS COILED-COIL PROTEIN 1; SPDL1 COILED-COIL DOMAIN-CONTAINING PROTEIN 99; CCDC99;; SPINDLY, DROSOPHILA, HOMOLOG OF
Number Sign 616402 MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE; MCPH14
Asterisk 616403 TP53 TARGET GENE 1; TP53TG1
Asterisk 616404 POLYMERASE I, RNA, SUBUNIT A; POLR1A RNA POLYMERASE I, 194-KD SUBUNIT; RPA194
Asterisk 616405 ADAPTOR PROTEIN 2-ASSOCIATED KINASE 1; AAK1 AP2-ASSOCIATED KINASE 1;; KIAA1048
Asterisk 616406 PYRROLINE-5-CARBOXYLATE REDUCTASE 2; PYCR2
Percent 616407 BROWN SYNDROME; BRWNS
Asterisk 616408 PYRROLINE-5-CARBOXYLATE REDUCTASE-LIKE; PYCRL PYRROLINE-5-CARBOXYLATE REDUCTASE 3; PYCR3
Number Sign 616409 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33
Number Sign 616410 SPINOCEREBELLAR ATAXIA 41; SCA41
Number Sign 616411 DYSTONIA 27; DYT27
Asterisk 616412 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 5; TXNDC5 ENDOPLASMIC RETICULUM PROTEIN, 46-KD; ERP46;; ENDOTHELIAL PROTEIN DISULFIDE ISOMERASE; ENDOPDI;; HEPATOCELLULAR CARCINOMA 2; HCC2
Number Sign 616413 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6
Number Sign 616414 AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK
Number Sign 616415 FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3
Asterisk 616416 ADHESION G PROTEIN-COUPLED RECEPTOR L1; ADGRL1 LATROPHILIN 1; LPHN1;; CALCIUM-INDEPENDENT ALPHA-LATROTOXIN RECEPTOR 1; CIRL1; CL1;; LECTOMEDIN 2; LEC2;; KIAA0821
Asterisk 616417 ADHESION G PROTEIN-COUPLED RECEPTOR L3; ADGRL3 LATROPHILIN 3; LPHN3;; CALCIUM-INDEPENDENT ALPHA-LATROTOXIN RECEPTOR 3; CIRL3; CL3;; LECTOMEDIN 3; LEC3;; KIAA0768
Number Sign 616418 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR
Asterisk 616419 ADHESION G PROTEIN-COUPLED RECEPTOR L4; ADGRL4 EGF-, TM7-, AND LATROPHILIN-RELATED PROTEIN; ETL;; EGF, LATROPHILIN, AND 7 TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 1; ELTD1
Number Sign 616420 LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10
Number Sign 616421 MYOCLONIC-ATONIC EPILEPSY; MAE
Asterisk 616422 TRANSCRIPTION ELONGATION FACTOR, MITOCHONDRIAL; TEFM CHROMOSOME 17 OPEN READING FRAME 42; C17ORF42
Asterisk 616423 DEAH BOX POLYPEPTIDE 30; DHX30 DDX30;; RETINA COREPRESSOR; RETCOR;; KIAA0890
Asterisk 616424 SET DOMAIN-CONTAINING PROTEIN 6; SETD6
Number Sign 616425 46,XY SEX REVERSAL 10; SRXY10 CHROMOSOME 17q24 DELETION SYNDROME
Asterisk 616426 CENTROSOMAL PROTEIN, 192-KD; CEP192 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 62; PPP1R62;; KIAA1569
Asterisk 616427 A-KINASE ANCHOR INHIBITOR 1; AKAIN1 CHROMOSOME 18 OPEN READING FRAME 42; C18ORF42
Number Sign 616428 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10; MCOPCB10
Asterisk 616429 SUSHI DOMAIN-CONTAINING PROTEIN 3; SUSD3
Number Sign 616430 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25; COXPD25
Asterisk 616431 GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE 2, MITOCHONDRIAL; GPAT2
Asterisk 616432 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 18; ARHGEF18 RHO-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR, 114-KD; p114RHOGEF;; KIAA0521
Number Sign 616433 IMMUNODEFICIENCY 40; IMD40
Asterisk 616434 INCREASED SODIUM TOLERANCE 1, YEAST, HOMOLOG OF; IST1 KIAA0174
Number Sign 616435 FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT
Number Sign 616436 EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7
Number Sign 616437 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3; FTDALS3
Asterisk 616438 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8-LIKE 3; TNFAIP8L3 TNFAIP8-LIKE 3; TIPE3
Number Sign 616439 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4; FTDALS4
Asterisk 616440 SOLUTE CARRIER FAMILY 32 (GABA VESICULAR TRANSPORTER), MEMBER 1; SLC32A1 VESICULAR GABA TRANSPORTER; VGAT;; VESICULAR INHIBITORY AMINO ACID TRANSPORTER; VIAAT
Asterisk 616441 OVO-LIKE 2; OVOL2 OVO, DROSOPHILA, HOMOLOG OF, 2;; ZINC FINGER PROTEIN 339; ZNF339
Asterisk 616442 OVO-LIKE 3; OVOL3 OVO, DROSOPHILA, HOMOLOG OF, 3
Asterisk 616443 ZINC FINGER, MYM-TYPE 5; ZMYM5 ZINC FINGER PROTEIN 237; ZNF237;; ZINC FINGER PROTEIN 198-LIKE 1; ZNF198L1
Asterisk 616444 RNA-BINDING MOTIF PROTEIN 19; RBM19 KIAA0682
Number Sign 616445 CANDIDIASIS, FAMILIAL, 9; CANDF9
Asterisk 616446 LYMPHOCYTE EXPANSION MOLECULE; LEXM LEM;; CHROMOSOME 1 OPEN READING FRAME 177; C1ORF177
Asterisk 616447 KIAA1429 GENE; KIAA1429 VIRILIZER
Asterisk 616448 RAS-ASSOCIATED PROTEIN RAB12; RAB12
Number Sign 616449 BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME; BVSYS
Asterisk 616450 EF-HAND DOMAIN FAMILY, MEMBER D2; EFHD2 SWIPROSIN 1; SWS1
Number Sign 616451 SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE; SPG74
Number Sign 616452 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA
Asterisk 616453 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 13; ZC3H13 KIAA0853
Asterisk 616454 ZINC FINGER PROTEIN 408; ZNF408
Number Sign 616455 ZIMMERMANN-LABAND SYNDROME 2; ZLS2
Asterisk 616456 INO80 COMPLEX, SUBUNIT B; INO80B PAP1-ASSOCIATED PROTEIN 1; PAPA1;; HMGA1-LIKE PROTEIN 4; HMGA1L4
Number Sign 616457 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50; EIEE50 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iz, FORMERLY; CDG1Z, FORMERLY
Asterisk 616458 PR DOMAIN-CONTAINING PROTEIN 12; PRDM12 POSITIVE REGULATORY DOMAIN ZINC FINGER PROTEIN 12
Number Sign 616459 AL-RAQAD SYNDROME; ARS
Number Sign 616460 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50; MRT50
Number Sign 616461 EPILEPSY, FAMILIAL TEMPORAL LOBE, 8; ETL8
Number Sign 616462 ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN
Asterisk 616463 ZINC FINGER PROTEIN 232; ZNF232 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 11; ZSCAN11
Asterisk 616464 ECDYSONELESS, DROSOPHILA, HOMOLOG OF; ECD SUPPRESSOR OF GCR2; SGT1
Asterisk 616465 VPS50, EARP/GARPII COMPLEX SUBUNIT; VPS50 COILED-COIL DOMAIN-CONTAINING PROTEIN 132; CCDC132;; SYNDETIN;; KIAA1861
Asterisk 616466 UNC5, C. ELEGANS, HOMOLOG OF, D; UNC5D UNC5H4
Asterisk 616467 DELETED IN PRIMARY CILIARY DYSKINESIA, MOUSE, HOMOLOG OF; DPCD
Number Sign 616468 EXUDATIVE VITREORETINOPATHY 6; EVR6
Number Sign 616469 RETINITIS PIGMENTOSA 72; RP72
Number Sign 616470 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2
Number Sign 616471 BETHLEM MYOPATHY 2; BTHLM2 EHLERS-DANLOS SYNDROME, MYOPATHIC TYPE; EDSMYP;; EDS, MYOPATHIC TYPE
Asterisk 616472 UBIQUITIN-ASSOCIATED PROTEIN 2-LIKE; UBAP2L NICE4;; KIAA0144
Asterisk 616473 MICRO RNA 558; MIR558 miRNA558
Asterisk 616474 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 26; ZSCAN26 SREZBP
Asterisk 616475 CENTROSOMAL PROTEIN, 72-KD; CEP72 KIAA1519
Asterisk 616476 ATP/GTP-BINDING PROTEIN-LIKE 4; AGBL4 CYTOSOLIC CARBOXYPEPTIDASE 6; CCP6
Asterisk 616477 NUCLEAR RECEPTOR-BINDING FACTOR 2; NRBF2 COMODULATOR OF PPAR AND RXR; COPR
Asterisk 616478 LEUCINE-RICH REPEATS- AND GUANYLATE KINASE DOMAIN-CONTAINING PROTEIN; LRGUK
Number Sign 616479 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 2
Asterisk 616480 KIAA1328 GENE; KIAA1328 HINDERIN
Number Sign 616481 CILIARY DYSKINESIA, PRIMARY, 32; CILD32 CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS
Number Sign 616482 ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN SADDAN DYSPLASIA
Number Sign 616483 INFANTILE LIVER FAILURE SYNDROME 2; ILFS2
Asterisk 616484 TAX1-BINDING PROTEIN 3; TAX1BP3 TAX INTERACTION PROTEIN 1; TIP1
Asterisk 616485 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 21; ZBTB21 ZINC FINGER PROTEIN 295; ZNF295;; KIAA1227
Number Sign 616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15
Number Sign 616487 EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND
Number Sign 616488 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8 HSAN VIII
Number Sign 616489 GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF
Number Sign 616490 JOUBERT SYNDROME 23; JBTS23
Number Sign 616491 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V; CMT2V CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V
Asterisk 616492 EWING SARCOMA-ASSOCIATED TRANSCRIPT 1, NONCODING; EWSAT1 LONG INTERGENIC NONCODING RNA 277; LINC00277
Asterisk 616493 FAMILY WITH SEQUENCE SIMILARITY 208, MEMBER A; FAM208A RB1-ASSOCIATED PROTEIN, 140-KD; RAP140;; TRANSGENE ACTIVATION SUPPRESSOR PROTEIN; TASOR;; CHROMOSOME 3 OPEN READING FRAME 63; C3ORF63;; KIAA1105
Number Sign 616494 LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11
Asterisk 616495 ADP-RIBOSYLATION FACTOR-LIKE 6-INTERACTING PROTEIN 6; ARL6IP6 ARL6-INTERACTING PROTEIN 6; AIP6
Asterisk 616496 NUCLEAR ENVELOPE INTEGRAL MEMBRANE PROTEIN 1; NEMP1 TRANSMEMBRANE PROTEIN 194A; TMEM194A
Asterisk 616497 NUCLEAR ENVELOPE INTEGRAL MEMBRANE PROTEIN 2; NEMP2 TRANSMEMBRANE PROTEIN 194B; TMEM194B
Asterisk 616498 FAMILY WITH SEQUENCE SIMILARITY 134, MEMBER C; FAM134C
Asterisk 616499 TRANSMEMBRANE PROTEIN 203; TMEM203
Number Sign 616500 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3; CEMCOX3
Number Sign 616501 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4
Number Sign 616502 CONE-ROD DYSTROPHY 21; CORD21 RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT
Number Sign 616503 LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9
Asterisk 616504 METHYLTRANSFERASE-LIKE 14; METTL14 KIAA1627
Number Sign 616505 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B HMSN VIB;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B; CMT6B
Asterisk 616506 NEURON-DERIVED NEUROTROPHIC FACTOR; NDNF CHROMOSOME 4 OPEN READING FRAME 31; C4ORF31;; EPIDERMACAN;; NORD, DROSOPHILA, HOMOLOG OF; NORD
Number Sign 616507 OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17
Asterisk 616508 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 11; SLC39A11 ZRT- AND IRT-LIKE PROTEIN 11; ZIP11;; CHROMOSOME 17 OPEN READING FRAME 26; C17ORF26
Number Sign 616509 CATARACT 44; CTRCT44
Asterisk 616510 GLUCOSAMINE-PHOSPHATE N-ACETYLTRANSFERASE 1; GNPNAT1 GLUCOSAMINE-6-PHOSPHATE N-ACETYLTRANSFERASE 1; GNA1
Number Sign 616511 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14; MODY14
Asterisk 616512 RING FINGER PROTEIN 152; RNF152
Asterisk 616513 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 4B; LARP4B La-RELATED PROTEIN 4B;; La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 5; LARP5;; La-RELATED PROTEIN 5;; KIAA0217
Asterisk 616514 FAMILY WITH SEQUENCE SIMILARITY 195, MEMBER B; FAM195B MAPK-REGULATED COREPRESSOR-INTERACTING PROTEIN 1; MCRIP1
Number Sign 616515 DEAFNESS, AUTOSOMAL RECESSIVE 104; DFNB104
Number Sign 616516 EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE; EDMD3
Number Sign 616517 ACHROMATOPSIA 7; ACHM7
Asterisk 616518 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 6; SLC38A6 SODIUM-COUPLED AMINO ACID TRANSPORTER 6; SNAT6
Asterisk 616519 PHOSPHODIESTERASE 12; PDE12 PDE, 2-PRIME
Asterisk 616520 ADENOSYLHOMOCYSTEINASE-LIKE 2; AHCYL2 S-ADENOSYL-L-HOMOCYSTEINE HYDROLASE 3;; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR 1-BINDING PROTEIN RELEASED WITH INOSITOL 1,4,5-TRISPHOSPHATE 2; IRBIT2;; ITPR1-BINDING PROTEIN RELEASED WITH IP3 2;; IRBIT, LONG;; KIAA0828
Number Sign 616521 MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39 CHROMOSOME 2p25.3 DELETION SYNDROME, INCLUDED;; CHROMOSOME 2p25.3 DUPLICATION SYNDROME, INCLUDED
Asterisk 616522 DCN1 DOMAIN-CONTAINING PROTEIN 5; DCUN1D5 SQUAMOUS CELL CARCINOMA-RELATED ONCOGENE 5; SCCRO5
Asterisk 616523 MICROFIBRILLAR-ASSOCIATED PROTEIN 3-LIKE; MFAP3L KIAA0626
Asterisk 616524 TRANSMEMBRANE PROTEIN 139; TMEM139
Asterisk 616525 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 10; SLC38A10
Asterisk 616526 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 11; SLC38A11
Asterisk 616527 SWI5-DEPENDENT HOMOLOGOUS RECOMBINATION REPAIR PROTEIN 1; SFR1 SFR1, S. POMBE, HOMOLOG OF;; MEIOSIS PROTEIN 5, S. CEREVISIAE, HOMOLOG OF; MEI5;; CHROMOSOME 10 OPEN READING FRAME 78; C10ORF78
Asterisk 616528 SWI5 HOMOLOGOUS RECOMBINATION REPAIR PROTEIN; SWI5 SWI5, S. POMBE, HOMOLOG OF;; SAE3, S. CEREVISIAE, HOMOLOG OF; SAE3;; CHROMOSOME 9 OPEN READING FRAME 119; C9ORF119
Asterisk 616529 YTH N6-METHYLADENOSINE RNA-BINDING PROTEIN 1; YTHDF1 YTH DOMAIN FAMILY, MEMBER 1
Asterisk 616530 YTH DOMAIN-CONTAINING PROTEIN 2; YTHDC2 CYCLOSPORIN A-ASSOCIATED HELICASE-LIKE PROTEIN; CAHL
Number Sign 616531 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA
Number Sign 616532 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7; IIAE7 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 5
Asterisk 616533 DEAD BOX POLYPEPTIDE 31; DDX31 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 25; PPP1R25
Number Sign 616534 THYROID CANCER, NONMEDULLARY, 4; NMTC4
Number Sign 616535 THYROID CANCER, NONMEDULLARY, 5; NMTC5
Asterisk 616536 CYSTATIN 9-LIKE; CST9L TESTATIN
Asterisk 616537 V-SET AND TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 2-LIKE; VSTM2L VSTM2-LIKE;; CHROMOSOME 20 OPEN READING FRAME 102; C20ORF102
Number Sign 616538 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED
Number Sign 616539 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26
Number Sign 616540 EPILEPSY, PROGRESSIVE MYOCLONIC, 9; EPM9
Number Sign 616541 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED
Asterisk 616542 GS HOMEOBOX 1; GSX1 GENOMIC-SCREENED HOMEOBOX 1; GSH1
Asterisk 616543 CYSTATIN 9; CST9 CYSTATIN-LIKE MOLECULE; CLM
Number Sign 616544 RETINITIS PIGMENTOSA 73; RP73
Asterisk 616545 PRELI DOMAIN-CONTAINING PROTEIN 3A; PRELID3A PRELI;; SLOWMO, DROSOPHILA, HOMOLOG OF, 1; SLMO1;; CHROMOSOME 18 OPEN READING FRAME 43; C18ORF43
Number Sign 616546 SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14
Asterisk 616547 LYSOZYME G-LIKE 2; LYG2 LYSG2
Asterisk 616548 LYSOPHOSPHOLIPASE-LIKE 1; LYPLAL1
Number Sign 616549 KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM; KFS4
Asterisk 616550 TRANSMEMBRANE PROTEIN 120A; TMEM120A TRANSMEMBRANE PROTEIN INDUCED BY TUMOR NECROSIS FACTOR-ALPHA; TMPIT;; NUCLEAR ENVELOPE TRANSMEMBRANE PROTEIN 29; NET29
Asterisk 616551 TRANSMEMBRANE PROTEIN 120B; TMEM120B
Asterisk 616552 CARNOSINE N-METHYLTRANSFERASE 1; CARNMT1 CHROMOSOME 9 OPEN READING FRAME 41; C9ORF41;; UPF0586
Number Sign 616553 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, INCLUDED; DKCB7, INCLUDED
Asterisk 616554 SPERM-ASSOCIATED ANTIGEN 17; SPAG17 PF6, CHLAMYDOMONAS, HOMOLOG OF; PF6
Asterisk 616555 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 37A; LRRC37A
Asterisk 616556 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 37A2; LRRC37A2
Asterisk 616557 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 37A3; LRRC37A3
Asterisk 616558 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 37B; LRRC37B
Number Sign 616559 NOONAN SYNDROME 9; NS9
Asterisk 616560 CD300H ANTIGEN CD300H;; CD300C-LIKE MOLECULE
Asterisk 616561 RAS PROTEIN ACTIVATOR-LIKE 3; RASAL3
Number Sign 616562 RETINITIS PIGMENTOSA 74; RP74
Asterisk 616563 STE20-LIKE PROTEIN KINASE; SLK LONG STE20-LIKE PROTEIN KINASE; LOSK;; KIAA0204
Number Sign 616564 NOONAN SYNDROME 10; NS10
Asterisk 616565 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 30B; ANKRD30B BREAST CANCER ANTIGEN NY-BR-1.1
Number Sign 616566 SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE; SCDO6
Asterisk 616567 DEATH-ASSOCIATED PROTEIN KINASE 2; DAPK2 DAP KINASE-RELATED PROTEIN 1; DRP1
Number Sign 616568 GLIOMA SUSCEPTIBILITY 9; GLM9
Asterisk 616569 CYSTEINE SULFINIC ACID DECARBOXYLASE; CSAD CSD;; P-SELECTIN CYTOPLASMIC TAIL-ASSOCIATED PROTEIN; PCAP
Number Sign 616570 CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3
Asterisk 616571 C-TYPE LECTIN DOMAIN FAMILY 18, MEMBER A; CLEC18A
Asterisk 616572 C-TYPE LECTIN DOMAIN FAMILY 18, MEMBER B; CLEC18B
Asterisk 616573 C-TYPE LECTIN DOMAIN FAMILY 18, MEMBER C; CLEC18C
Asterisk 616574 MITOCHONDRIAL INNER MEMBRANE ORGANIZING SYSTEM PROTEIN 1; MINOS1 MICOS PROTEIN 1;; MIO10, YEAST, HOMOLOG OF; MIO10;; MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 10-KD SUBUNIT; MIC10;; MICOS COMPLEX, 10-KD SUBUNIT;; CHROMOSOME 1 OPEN READING FRAME 51; C1ORF51
Asterisk 616575 LEUKOCYTE RECEPTOR CLUSTER GENE 8; LENG8 KIAA1932
Number Sign 616576 IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 NFKB1 DEFICIENCY
Number Sign 616577 EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS
Asterisk 616578 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 1; ZBTB1
Number Sign 616579 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
Number Sign 616580 AU-KLINE SYNDROME; AUKS
Asterisk 616581 LYSINE-SPECIFIC DEMETHYLASE 4E; KDM4E JUMONJI DOMAIN-CONTAINING PROTEIN 2E; JMJD2E
Asterisk 616582 LIPOLYSIS-STIMULATED LIPOPROTEIN RECEPTOR; LSR
Number Sign 616583 SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE; SEDSTN SED, STANESCU TYPE
Asterisk 616584 SPERMATOGENESIS-ASSOCIATED PROTEIN 31, SUBFAMILY A, MEMBER 7; SPATA31A7 ACROSOME-EXPRESSED PROTEIN 1; AEP1;; FAMILY WITH SEQUENCE SIMILARITY 75, MEMBER A7; FAM75A7;; CHROMOSOME 9 OPEN READING FRAME 36; C9ORF36;; VAD1.3
Asterisk 616585 RING FINGER- AND SPRY DOMAIN-CONTAINING PROTEIN 1; RSPRY1 KIAA1972
Number Sign 616586 SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B
Asterisk 616587 FAMILY WITH SEQUENCE SIMILARITY 118, MEMBER B; FAM118B
Asterisk 616588 DIHYDROFOLATE REDUCTASE-LIKE 1; DHFRL1 DIHYDROFOLATE REDUCTASE PSEUDOGENE 4, FORMERLY; DHFRP4, FORMERLY
Number Sign 616589 ADAMS-OLIVER SYNDROME 6; AOS6
Asterisk 616590 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 5; ZBTB5 KIAA0354
Asterisk 616591 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7C; ZBTB7C AFFECTED BY PAPILLOMAVIRUS DNA INTEGRATION IN ME180 CELLS; APM1
Number Sign 616592 KOSAKI OVERGROWTH SYNDROME; KOGS SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION
Asterisk 616593 FAMILY WITH SEQUENCE SIMILARITY 132, MEMBER A; FAM132A C1q DOMAIN-CONTAINING PROTEIN 2; C1QDC2;; C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 12; CTRP12; C1QTNF12;; ADIPOSE-DERIVED INSULIN-SENSITIZING FACTOR;; ADIPOLIN
Asterisk 616594 ARF GTPase-ACTIVATING PROTEIN WITH SH3 DOMAIN, ANKYRIN REPEAT, AND PH DOMAIN 3; ASAP3 UPREGULATED IN LIVER CANCER 1; UPLC1;; CENTAURIN, BETA-6; CENTB6;; DEVELOPMENT- AND DIFFERENTIATION-ENHANCING FACTOR-LIKE 1; DDEFL1;; ARF GTPase-ACTIVATING PROTEIN WITH COILED-COIL, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS 4; ACAP4
Asterisk 616595 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 2; ZBTB2 ZINC FINGER PROTEIN 437; ZNF437;; KIAA1483
Asterisk 616596 ADP-RIBOSYLATION FACTOR-LIKE 8B; ARL8B SMALL G PROTEIN INDISPENSABLE FOR EQUAL CHROMOSOME SEGREGATION 1; GIE1
Asterisk 616597 ADP-RIBOSYLATION FACTOR-LIKE 8A; ARL8A SMALL G PROTEIN INDISPENSABLE FOR EQUAL CHROMOSOME SEGREGATION 2; GIE2
Asterisk 616598 BLOC1-RELATED COMPLEX, SUBUNIT 5; BORCS5 BORC, SUBUNIT 5;; LOSS OF HETEROZYGOSITY, CHROMOSOME 12, REGION 1; LOH12CR1;; MYRISTOYLATED LYSOSOMAL PROTEIN; MYRLYSIN
Asterisk 616599 BLOC1-RELATED COMPLEX, SUBUNIT 6; BORCS6 BORC, SUBUNIT 6;; CHROMOSOME 17 OPEN READING FRAME 59; C17ORF59;; LYSOSOME-DISPERSING PROTEIN; LYSPERSIN
Asterisk 616600 BLOC1-RELATED COMPLEX, SUBUNIT 7; BORCS7 BORC, SUBUNIT 7;; CHROMOSOME 10 OPEN READING FRAME 32; C10ORF32;; DIASKEDIN
Asterisk 616601 BLOC1-RELATED COMPLEX, SUBUNIT 8; BORCS8 BORC, SUBUNIT 8;; MEF2B NEIGHBOR GENE; MEF2BNB
Number Sign 616602 CRANIOSYNOSTOSIS 6; CRS6
Number Sign 616603 CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3
Number Sign 616604 CHROMOSOME 14q32 DUPLICATION SYNDROME, 700-KB MYELOPROLIFERATIVE NEOPLASMS, FAMILIAL, SUSCEPTIBILITY TO
Asterisk 616605 GSK3B-INTERACTING PROTEIN; GSKIP CHROMOSOME 14 OPEN READING FRAME 129; C14ORF129
Number Sign 616606 RING CHROMOSOME 14 SYNDROME
Asterisk 616607 KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 8; KBTBD8 T-CELL ACTIVATION KELCH REPEAT PROTEIN; TAKRP;; KIAA1842
Asterisk 616608 CHROMOSOME 5 OPEN READING FRAME 30; C5ORF30
Asterisk 616609 TRANSMEMBRANE PROTEIN 65; TMEM65
Asterisk 616610 CANCER SUSCEPTIBILITY CANDIDATE 15, NONCODING; CASC15 LONG INTERGENIC NONCODING RNA 340: LINC00340;; lincRNA 340
Asterisk 616611 LONG INTERGENIC NONCODING RNA 461; LINC00461 lincRNA 461;; VISUAL CORTEX-EXPRESSED GENE; VISC
Asterisk 616612 COLLAGEN, TYPE VI, ALPHA-4, PSEUDOGENE 2; COL6A4P2
Asterisk 616613 COLLAGEN, TYPE VI, ALPHA-6; COL6A6
Asterisk 616614 HISTONE PARYLATION FACTOR 1; HPF1 CHROMOSOME 4 OPEN READING FRAME 27; C4ORF27
Asterisk 616615 CHONDROITIN SULFATE N-ACETYLGALACTOSAMINYLTRANSFERASE 1; CSGALNACT1
Asterisk 616616 CHONDROITIN SULFATE N-ACETYLGALACTOSAMINYLTRANSFERASE 2; CSGALNACT2
Number Sign 616617 HEIMLER SYNDROME 2; HMLR2 PEROXISOME BIOGENESIS DISORDER 4C; PBD4C
Asterisk 616618 ACYL-CoA-BINDING DOMAIN-CONTAINING PROTEIN 5; ACBD5 KIAA1996
Asterisk 616619 DPPA2 UPSTREAM-BINDING RNA, NONCODING; DUBR DPPA2 UPSTREAM-BINDING MUSCLE LONG NONCODING RNA; DUM;; LONG INTERGENIC NONCODING RNA 883; LINC0883;; lincRNA 883
Asterisk 616620 WD REPEAT-CONTAINING PROTEIN 12; WDR12
Asterisk 616621 DEAD BOX POLYPEPTIDE 27; DDX27 DEAD/H BOX POLYPEPTIDE 27;; RNA HELICASE-LIKE PROTEIN; RHLP
Number Sign 616622 IMMUNODEFICIENCY 42; IMD42
Asterisk 616623 FAMILY WITH SEQUENCE SIMILARITY 30, MEMBER A; FAM30A KIAA0125;; CHROMOSOME 14 OPEN READING FRAME 110; C14ORF110
Asterisk 616624 NUCLEAR CAP-BINDING PROTEIN 3; NCBP3 CHROMOSOME 17 OPEN READING FRAME 85; C17ORF85
Number Sign 616625 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W; CMT2W CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2W
Asterisk 616626 CEREBRAL ENDOTHELIAL CELL ADHESION MOLECULE; CERCAM CEECAM;; GLYCOSYLTRANSFERASE 25 FAMILY, MEMBER 3
Asterisk 616627 PODOCALYXIN-LIKE 2; PODXL2 ENDOGLYCAN; EG
Asterisk 616628 FAMILY WITH SEQUENCE SIMILARITY 220, MEMBER A; FAM220A STAT3-INTERACTING PROTEIN AS A REPRESSOR; SIPAR;; ACROSOMAL PROTEIN 1; ACPIN1;; CHROMOSOME 7 OPEN READING FRAME 70; C7ORF70 SALIVARY GLAND-SPECIFIC PROTEIN 1, INCLUDED; SAGSIN1, INCLUDED
Number Sign 616629 SENIOR-LOKEN SYNDROME 9; SLSN9
Asterisk 616630 NEURENSIN 1; NRSN1 VESICULAR MEMBRANE PROTEIN; VMP
Number Sign 616631 POROKERATOSIS 9, MULTIPLE TYPES; POROK9
Number Sign 616632 SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS
Asterisk 616633 PROLINE-RICH PROTEIN 12; PRR12 KIAA1205
Asterisk 616634 SUSHI, NIDOGEN, AND EGF-LIKE DOMAINS PROTEIN 1; SNED1 STROMAL NIDOGEN EXTRACELLULAR MATRIX PROTEIN; SNEP
Asterisk 616635 CYSTEINE- AND HISTIDINE-RICH PROTEIN 1; CYHR1 CHRP;; KIAA0496
Number Sign 616636 IMMUNODEFICIENCY 44; IMD44
Asterisk 616637 TBC1 DOMAIN FAMILY, MEMBER 16; TBC1D16
Number Sign 616638 SMITH-KINGSMORE SYNDROME; SKS MACROCEPHALY, SEIZURES, MENTAL RETARDATION, UMBILICAL HERNIA, AND FACIAL DYSMORPHISM
Asterisk 616639 PR DOMAIN-CONTAINING PROTEIN 8; PRDM8
Number Sign 616640 EPILEPSY, PROGRESSIVE MYOCLONIC, 10; EPM10
Asterisk 616641 RING FINGER PROTEIN 141; RNF141 ZINC FINGER PROTEIN 230; ZNF230;; ZFP2
Asterisk 616642 C6ORF89 GENE; C6ORF89 BOMBESIN RECEPTOR-ACTIVATED PROTEIN; BRAP;; AMFION
Asterisk 616643 HEPATOMA-DERIVED GROWTH FACTOR-RELATED PROTEIN 3 HRP3;; HDGFRP3
Asterisk 616644 CUB AND ZONA PELLUCIDA-LIKE DOMAINS 1; CUZD1 ESTROGEN-REGULATED GENE; ERG1;; INTEGRAL MEMBRANE-ASSOCIATED PROTEIN 1; ITMAP1
Number Sign 616645 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34; EIEE34
Asterisk 616646 KERATIN 25, TYPE I; KRT25 K25; KRT25A; K25A;; KERATIN 25, INNER ROOT SHEATH, 1; KRT25IRS1; K25IRS1;; KA38;; K10C;; IRSA1
Number Sign 616647 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35; EIEE35
Percent 616648 OPTIC ATROPHY 8; OPA8
Number Sign 616649 SPHEROCYTOSIS, TYPE 2; SPH2 SPHEROCYTOSIS, HEREDITARY, 2; HS2
Asterisk 616650 KIAA0556 GENE; KIAA0556 KATANIN-INTERACTING PROTEIN; KATNIP
Number Sign 616651 ROIFMAN SYNDROME; RFMN SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY
Number Sign 616652 YUAN-HAREL-LUPSKI SYNDROME; YUHAL
Asterisk 616653 PNN-INTERACTING SERINE/ARGININE-RICH PROTEIN; PNISR SERINE/ARGININE-RICH SPLICING REGULATORY PROTEIN, 130-KD; SRRP130;; SPLICING FACTOR, ARGININE/SERINE-RICH, 18; SFRS18
Number Sign 616654 JOUBERT SYNDROME 24; JBTS24
Asterisk 616655 SIPA1-LIKE PROTEIN 3; SIPA1L3 SPAL3;; SPAR3;; KIAA0545
Asterisk 616656 COMM DOMAIN-CONTAINING PROTEIN 8; COMMD8 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 8
Number Sign 616657 SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM
Asterisk 616658 CHROMOSOME 19 OPEN READING FRAME 70; C19ORF70 MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 13-KD SUBUNIT; MIC13;; MICOS COMPLEX, 13-KD SUBUNIT;; QIL1
Asterisk 616659 TBC1 DOMAIN FAMILY, MEMBER 17; TBC1D17
Asterisk 616660 TRANSMEMBRANE PROTEIN 175: TMEM175
Asterisk 616661 MORC FAMILY CW-TYPE ZINC FINGER PROTEIN 2; MORC2 ZINC FINGER CW DOMAIN PROTEIN 3: ZCW3;; ZINC FINGER CW DOMAIN- AND COILED-COIL DOMAIN-CONTAINING PROTEIN 1; ZCWCC1;; MICRORCHIDIA, MOUSE, HOMOLOG OF, 2;; KIAA0852
Asterisk 616662 THUMP DOMAIN-CONTAINING PROTEIN 1; THUMPD1 TAN1, YEAST, HOMOLOG OF
Asterisk 616663 SMALL NUCLEOLAR RNA, C/D BOX, 118; SNORD118 snoRNA, U8
Asterisk 616664 SMALL NUCLEOLAR RNA, C/D BOX, 13; SNORD13 snoRNA, U13
Asterisk 616665 SYNAPTOPHYSIN-LIKE 1; SYPL1 SYPL;; PANTOPHYSIN
Asterisk 616666 SEIZURE-RELATED 6, MOUSE, HOMOLOG OF; SEZ6 BRAIN-SPECIFIC RECEPTOR-LIKE PROTEIN C; BSRPC
Asterisk 616667 SEZ6-LIKE PROTEIN 2; SEZ6L2 BRAIN-SPECIFIC RECEPTOR-LIKE PROTEIN A; BSRPA
Number Sign 616668 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X
Number Sign 616669 IMMUNODEFICIENCY 45; IMD45
Asterisk 616670 EXTENDED SYNAPTOTAGMIN-LIKE PROTEIN 1; ESYT1 EXTENDED SYNAPTOTAGMIN 1;; MEMBRANE-BOUND C2 DOMAIN-CONTAINING PROTEIN; MBC2;; FAMILY WITH SEQUENCE SIMILARITY 62, MEMBER A; FAM62A
Asterisk 616671 KERATIN 76, TYPE II; KRT76 K76;; K2P; KRT2P;; CYTOKERATIN 2P; CK2P;; KB9
Number Sign 616672 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27; COXPD27
Asterisk 616673 SPINDLE- AND KINETOCHORE-ASSOCIATED COMPLEX, SUBUNIT 1; SKA1 SPINDLE- AND KINETOCHORE-ASSOCIATED PROTEIN 1;; CHROMOSOME 18 OPEN READING FAME 24; C18ORF24
Asterisk 616674 SPINDLE- AND KINETOCHORE-ASSOCIATED COMPLEX, SUBUNIT 2; SKA2 SPINDLE- AND KINETOCHORE-ASSOCIATED PROTEIN 2;; FAMILY WITH SEQUENCE SIMILARITY 33, MEMBER A; FAM33A
Asterisk 616675 KERATIN 26, TYPE I; KRT26 K26;; KA39;; K10D;; KERATIN 25B; KRT25B; K25B;; KERATIN 25, INNER ROOT SHEATH, 2; KRT25IRS2; K25IRS2;; CYTOKERATIN 26; CK26
Asterisk 616676 KERATIN 27, TYPE I; KRT27 K27;; KRT25C; K25C;; KA40;; K10B;; KERATIN 25, INNER ROOT SHEATH, 3; KRT25IRS3; K25IRS3;; IRSA3.1;; CYTOKERATIN 27; CK27
Asterisk 616677 KERATIN 28, TYPE I; KRT28 K28;; KRT25D; K25D;; KA41;; KERATIN 25, INNER ROOT SHEATH, 4; KRT25IRS4; K25IRS4;; IRS1A2;; CYTOKERATIN 28; CK28
Asterisk 616678 KERATIN 39, TYPE I; KRT39 K39;; KA35;; CYTOKERATIN 39; CK39
Asterisk 616679 KERATIN 40, TYPE I; KRT40 K40;; KA36;; CYTOKERATIN 40; CK40
Number Sign 616680 SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE; SPG75
Number Sign 616681 MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16
Number Sign 616682 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME; SSMS
Number Sign 616683 LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12
Number Sign 616684 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K; CMT4K CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K;; CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K
Number Sign 616685 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14; EIG14
Asterisk 616686 SYNAPTOTAGMIN-BINDING CYTOPLASMIC RNA-INTERACTING PROTEIN; SYNCRIP NS1-ASSOCIATED PROTEIN 1; NSAP1;; GLYCINE-, ARGININE-, AND TYROSINE-RICH RNA-BINDING PROTEIN; GRYRBP;; HETEROGENOUS NUCLEAR RIBONUCLEOPROTEIN Q; HNRNPQ
Number Sign 616687 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y; CMT2Y CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Y;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Y
Number Sign 616688 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z; CMT2Z CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Z;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z
Number Sign 616689 DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2 XEROCYTOSIS GARDOS;; DESICCYTOSIS GARDOS
Asterisk 616690 CENTROSOMAL PROTEIN, 104-KD; CEP104 GLYCINE-, GLUTAMATE-, AND THIENYLCYCLOHEXYLPIPERIDINE-BINDING PROTEIN; GLYBP;; FAP256, CHLAMYDOMONAS, HOMOLOG OF;; KIAA0562
Asterisk 616691 EXTENDED SYNAPTOTAGMIN-LIKE PROTEIN 2; ESYT2 EXTENDED SYNAPTOTAGMIN 2;; FAMILY WITH SEQUENCE SIMILARITY 62, MEMBER B; FAM62B
Asterisk 616692 EXTENDED SYNAPTOTAGMIN-LIKE PROTEIN 3; ESYT3 EXTENDED SYNAPTOTAGMIN 3;; FAMILY WITH SEQUENCE SIMILARITY 62, MEMBER C; FAM62C
Asterisk 616693 ACID-SENSING ION CHANNEL FAMILY MEMBER 5; ASIC5 HUMAN INTESTINE SODIUM CHANNEL; HINAC
Asterisk 616694 KIAA0368 GENE; KIAA0368 ECM29, YEAST, HOMOLOG OF; ECM29
Asterisk 616695 SERINE/THREONINE/TYROSINE-INTERACTING PROTEIN-LIKE 1; STYXL1 STYX-LIKE 1;; MAP KINASE PHOSPHATASE-LIKE STYX DOMAIN PROTEIN; MKSTYX;; DUAL-SPECIFICITY PHOSPHATASE 24; DUSP24
Asterisk 616696 KIAA0040 GENE; KIAA0040
Number Sign 616697 DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69 DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC; DCUA
Asterisk 616698 ZINC FINGER PROTEIN 593; ZNF593 ZINC FINGER PROTEIN T86; ZT86
Asterisk 616699 COMM DOMAIN-CONTAINING PROTEIN 2; COMMD2
Asterisk 616700 COMM DOMAIN-CONTAINING PROTEIN 3; COMMD3
Asterisk 616701 COMM DOMAIN-CONTAINING PROTEIN 4; COMMD4
Asterisk 616702 ZINC FINGER PROTEIN 589; ZNF589 STEM CELL ZINC FINGER PROTEIN 1; SZF1
Asterisk 616703 COMM DOMAIN-CONTAINING PROTEIN 7; COMMD7
Asterisk 616704 COMM DOMAIN-CONTAINING PROTEIN 10; COMMD10
Number Sign 616705 DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97
Asterisk 616706 POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 11; PARP11 ARTD11
Number Sign 616707 DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68
Number Sign 616708 DESANTO-SHINAWI SYNDROME; DESSH DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES CHROMOSOME 10p12-p11 DELETION SYNDROME, INCLUDED
Asterisk 616709 ALPHA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE; A4GNT
Number Sign 616710 PARKINSON DISEASE 22, AUTOSOMAL DOMINANT; PARK22
Asterisk 616711 TAO KINASE 3; TAOK3 JNK/SAPK-INHIBITORY KINASE; JIK;; DENDRITIC CELL-DERIVED PROTEIN KINASE; DPK
Asterisk 616712 START DOMAIN-CONTAINING PROTEIN 7; STARD7 GESTATIONAL TROPHOBLASTIC TUMOR PROTEIN 1; GTT1
Asterisk 616713 PIPECOLIC ACID OXIDASE; PIPOX
Asterisk 616714 HMG-BOX TRANSCRIPTION FACTOR 1; HBP1
Asterisk 616715 THIOREDOXIN-RELATED TRANSMEMBRANE PROTEIN 2; TMX2
Number Sign 616716 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5
Asterisk 616717 TESTIS-EXPRESSED GENE 10; TEX10
Asterisk 616718 NEURITE OUTGROWTH-ASSOCIATED PROTEIN; NGRN NEUGRIN
Number Sign 616719 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, WITH HEPATOPATHY
Number Sign 616720 MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19
Number Sign 616721 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N CDG IIn; CDGIIn
Number Sign 616722 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT; RDICC
Number Sign 616723 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PROGRESSIVE, WITH SHORT STATURE, FACIAL DYSMORPHISM, SHORT FOURTH METATARSALS, AND MENTAL RETARDATION, WITH OR WITHOUT CRANIOSYNOSTOSIS
Number Sign 616724 TOOTH AGENESIS, SELECTIVE, 7; STHAG7
Asterisk 616725 DEAD BOX POLYPEPTIDE 60-LIKE; DDX60L
Number Sign 616726 CILIARY DYSKINESIA, PRIMARY, 33; CILD33 CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS
Asterisk 616727 PHD FINGER PROTEIN 21B; PHF21B PHF4;; BHC80L
Number Sign 616728 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES; CPRF
Asterisk 616729 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY W, MEMBER 3; OR2W3
Number Sign 616730 NEPHROTIC SYNDROME, TYPE 11; NPHS11
Asterisk 616731 NEVER IN MITOSIS GENE A-RELATED KINASE 5; NEK5 NIMA-RELATED KINASE 5
Number Sign 616732 OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10
Number Sign 616733 COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8
Number Sign 616734 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2
Asterisk 616735 COILED-COIL DOMAIN-CONTAINING PROTEIN 174: CCDC174 HEMATOPOIETIC STEM/PROGENITOR CELL-EXPRESSED GENE 212; HSPC212
Number Sign 616736 TREMOR, HEREDITARY ESSENTIAL, 5; ETM5
Number Sign 616737 TAKENOUCHI-KOSAKI SYNDROME; TKS MACROTHROMBOCYTOPENIA AND MENTAL RETARDATION SYNDROME
Number Sign 616738 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2
Number Sign 616739 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51; MRT51
Number Sign 616740 IMMUNODEFICIENCY 46; IMD46
Asterisk 616741 PR DOMAIN-CONTAINING PROTEIN 13; PRDM13 PR DOMAIN ZINC FINGER PROTEIN 13
Asterisk 616742 NOP58, S. CEREVISIAE, HOMOLOG OF; NOP58 NOP58 RIBONUCLEOPROTEIN;; NOP5, S. CEREVISIAE, HOMOLOG OF; NOP5
Asterisk 616743 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 3; RGL3
Number Sign 616744 AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL
Asterisk 616745 BIORIENTATION OF CHROMOSOMES IN CELL DIVISION 1; BOD1 BIORIENTATION DEFECTIVE 1;; FAMILY WITH SEQUENCE SIMILARITY 44, MEMBER B; FAM44B
Asterisk 616746 BOD1-LIKE PROTEIN 1; BOD1L1 BOD1L;; FAMILY WITH SEQUENCE SIMILARITY 4, MEMBER A; FAM44A
Asterisk 616747 CHOLINE PHOSPHOTRANSFERASE 1; CHPT1 CPT; CPT1
Asterisk 616748 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 8; ENTPD8 ENTPDase 8
Number Sign 616749 HETEROTAXY, VISCERAL, 7, AUTOSOMAL; HTX7
Asterisk 616750 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 16; ZDHHC16 ABL-PHILIN 2; APH2
Asterisk 616751 CHOLINE/ETHANOLAMINE PHOSPHOTRANSFERASE 1; CEPT1
Asterisk 616752 HYPOTHALAMUS GOLGI APPARATUS-EXPRESSED PROTEIN, 19-KD HMP19;; NEURON-SPECIFIC GENE 2; NSG2
Asterisk 616753 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 7; ENTPD7 LYSOSOMAL APYRASE-LIKE PROTEIN 1; LALP1
Number Sign 616754 BOMBAY PHENOTYPE PARA-BOMBAY PHENOTYPE, INCLUDED;; REUNION VARIANT, INCLUDED
Asterisk 616755 TRIPARTITE MOTIF-CONTAINING PROTEIN 62; TRIM62 DUCTAL EPITHELIUM-ASSOCIATED RING PROTEIN, CHROMOSOME 1; DEAR1
Number Sign 616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS
Asterisk 616757 TRANSMEMBRANE PROTEIN 150A; TMEM150A TRANSMEMBRANE PROTEIN 150; TMEM150;; TENTONIN 1; TTN1;; TM6P1
Asterisk 616758 KERATINOCYTE DIFFERENTIATION FACTOR 1; KDF1 CHROMOSOME 1 OPEN READING FRAME 172; C1ORF172
Asterisk 616759 NITRIC OXIDE SYNTHASE-INTERACTING PROTEIN; NOSIP
Number Sign 616760 WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3 WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS
Asterisk 616761 SUSHI DOMAIN-CONTAINING PROTEIN 6; SUSD6 DRUG-ACTIVATED GENE OVEREXPRESSED; DRAGO;; KIAA0247
Asterisk 616762 CENTRIOLE-, CILIA-, AND SPINDLE-ASSOCIATED PROTEIN; CCSAP CENTRIOLE- AND SPINDLE-ASSOCIATED PROTEIN; CSAP;; CHROMOSOME 10 OPEN READING FRAME 96; C1ORF96
Number Sign 616763 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA; LDAMD
Asterisk 616764 SOLUTE CARRIER FAMILY 46, MEMBER 3; SLC46A3
Asterisk 616765 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 11; SAMD11 MAJOR RETINAL SAM DOMAIN PROTEIN; MR-S
Asterisk 616766 THIOREDOXIN-RELATED TRANSMEMBRANE PROTEIN 4; TMX4
Asterisk 616767 CALPAIN, SMALL SUBUNIT 2; CAPNS2 CALCIUM-DEPENDENT PROTEASE SMALL SUBUNIT 2; CSS2
Asterisk 616768 TUBULIN, BETA-8; TUBB8 TUBULIN, BETA, CLASS VIII
Asterisk 616769 NITRILASE FAMILY MEMBER 2; NIT2
Asterisk 616770 MICRO RNA 218-1; MIR218-1 miRNA218-1
Asterisk 616771 MICRO RNA 218-2; MIR218-2 miRNA218-2
Asterisk 616772 MANNOSIDASE, ALPHA, CLASS 1C, MEMBER 1; MAN1C1
Asterisk 616773 FAMILY WITH SEQUENCE SIMILARITY 73, MEMBER A; FAM73A MIGA, DROSOPHILA, HOMOLOG OF, 1; MIGA1;; MITOGUARDIN 1
Asterisk 616774 FAMILY WITH SEQUENCE SIMILARITY 73, MEMBER B; FAM73B MIGA, DROSOPHILA, HOMOLOG OF, 2; MIGA2;; MITOGUARDIN 2
Asterisk 616775 ZINC FINGER PROTEIN 683; ZNF683 HOMOLOG OF BLIMP1 IN T CELLS; HOBIT
Asterisk 616776 DUAL-SPECIFICITY PHOSPHATASE 15; DUSP15 VH1-RELATED FAMILY, MEMBER Y; VHY
Number Sign 616777 SECKEL SYNDROME 9; SCKL9
Asterisk 616778 DUAL-SPECIFICITY PHOSPHATASE 22; DUSP22 LOW MOLECULAR WEIGHT DUAL-SPECIFICITY PHOSPHATASE 2; LMWDSP2;; MITOGEN-ACTIVATED PROTEIN KINASE PHOSPHATASE X; MKPX;; VHR-RELATED MKPX; VHX;; JNK PATHWAY-ASSOCIATED PHOSPHATASE; JKAP;; JNK STIMULATORY PHOSPHATASE 1; JSP1
Number Sign 616779 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2; CADASIL2
Number Sign 616780 OOCYTE MATURATION DEFECT 2; OOMD2
Number Sign 616781 JOUBERT SYNDROME 25; JBTS25
Asterisk 616782 GLUCOSAMINYL (N-ACETYL) TRANSFERASE 4, CORE 2; GCNT4 BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE 4, CORE 2
Asterisk 616783 UBX DOMAIN PROTEIN 10; UBXN10
Number Sign 616784 JOUBERT SYNDROME 26; JBTS26
Asterisk 616785 PUTATIVE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PHTF2
Asterisk 616786 MITOGEN-ACTIVATED PROTEIN KINASE-BINDING PROTEIN 1; MAPKBP1 JNK-BINDING PROTEIN 1; JNKBP1
Asterisk 616787 CLUSTERIN-ASSOCIATED PROTEIN 1; CLUAP1 FLAGELLAR-ASSOCIATED PROTEIN 22, CHLAMYDOMONAS, HOMOLOG OF; FAP22;; DYF3, C. ELEGANS, HOMOLOG OF;; QILIN;; KIAA0643
Number Sign 616788 OROFACIAL CLEFT 15; OFC15
Number Sign 616789 MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD
Asterisk 616790 PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 4; PPP4R4 PP4R4;; KIAA1622
Asterisk 616791 PIGGYBAC TRANSPOSABLE ELEMENT-DERIVED GENE 5; PGBD5 PIGGYBAC DOMAIN-RELATED PROTEIN 5
Percent 616792 NEUROBLASTOMA, SUSCEPTIBILITY TO, 7; NBLST7
Asterisk 616793 PHOSPHOLIPASE A2, GROUP IIF; PLA2G2F PHOSPHOLIPASE A2, SECRETED, GROUP IIF;; SPLA2 IIF
Number Sign 616794 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28; COXPD28
Number Sign 616795 SPINOCEREBELLAR ATAXIA 42; SCA42
Asterisk 616796 RETINOL DEHYDROGENASE 14; RDH14 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 7C, MEMBER 4; SDR7C4;; PANCREAS PROTEIN 2; PAN2
Asterisk 616797 EFR3, S. CEREVISIAE, HOMOLOG OF, B; EFR3B KIAA0953
Asterisk 616798 ZINC FINGER PROTEIN 28; ZFP28
Asterisk 616799 SYNAPTONEMAL COMPLEX PROTEIN 2-LIKE; SYCP2L SYCP2-LIKE;; CHROMOSOME 6 OPEN READING FRAME 177; C6ORF177
Asterisk 616800 LOXL1 ANTISENSE RNA 1, NONCODING; LOXL1AS1 LONG NONCODING RNA LOXL1AS1;; lncRNA LOXL1AS1
Number Sign 616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2
Asterisk 616802 T CELL-INTERACTING ACTIVATING RECEPTOR ON MYELOID CELLS 1; TARM1
Number Sign 616803 LAMB-SHAFFER SYNDROME; LAMSHF
Asterisk 616804 V-SET AND TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 1; VSTM1 SIGNAL INHIBITORY RECEPTOR ON LEUKOCYTES 1; SIRL1
Asterisk 616805 MYC TARGET IN MYELOID CELLS 1; MYCT1 MYC TARGET PROTEIN 1;; MYC TARGET FROM LARYNGEAL CANCER CELLS; MTLC
Number Sign 616806 WILMS TUMOR 6; WT6 WILMS TUMOR, SUSCEPTIBILITY TO
Asterisk 616807 FAS-BINDING FACTOR 1; FBF1 ALBATROSS; ALB
Asterisk 616808 CHROMOSOME 19 OPEN READING FRAME 66; C19ORF66 REPRESSOR FOR YIELD OF DENGUE VIRUS; RYDEN
Number Sign 616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12; GPIBD12
Asterisk 616810 IMMUNOGLOBULIN SUPERFAMILY, DCC SUBCLASS, MEMBER 4; IGDCC4 NEIGHBOR OF PUNC E11; NOPE;; KIAA1628
Number Sign 616811 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29; COXPD29
Number Sign 616812 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X; LGMD2X
Asterisk 616813 ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 3; AGAP3 CENTAURIN, GAMMA-3; CENTG3 CRAM-ASSOCIATED GTPase, INCLUDED; CRAG, INCLUDED
Number Sign 616814 PREIMPLANTATION EMBRYONIC LETHALITY 1; PREMBL1 PREMBL
Asterisk 616815 TRANSMEMBRANE PROTEIN 199; TMEM199 VMA12, S. CEREVISIAE, HOMOLOG OF; VMA12;; VPH2, S. CEREVISIAE, HOMOLOG OF; VPH2;; CHROMOSOME 17 OPEN READING FRAME 32; C17ORF32
Number Sign 616816 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR
Number Sign 616817 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2
Number Sign 616818 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3; IGAN3
Number Sign 616819 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA BIRK-FLUSSER SYNDROME
Asterisk 616820 METHENYLTETRAHYDROFOLATE SYNTHETASE DOMAIN-CONTAINING PROTEIN; MTHFSD MTHFS DOMAIN-CONTAINING PROTEIN
Asterisk 616821 THROMBOSPONDIN TYPE 1 DOMAIN-CONTAINING PROTEIN 1; THSD1 TRANSMEMBRANE MOLECULE WITH THROMBOSPONDIN MODULE; TMTSP
Asterisk 616822 MON2, S. CEREVISIAE, HOMOLOG OF; MON2 MON2, REGULATOR OF ENDOSOME-TO-GOLGI TRAFFICKING;; KIAA1040
Asterisk 616823 DOPEY FAMILY MEMBER 1; DOPEY1 DOP1;; KIAA1117
Asterisk 616824 TMF1-REGULATED NUCLEAR PROTEIN 1; TRNP1 TMF-REGULATED NUCLEAR PROTEIN; TRNP
Asterisk 616825 NUCLEAR RECEPTOR COACTIVATOR 5; NCOA5 COACTIVATOR INDEPENDENT OF AF2; CIA
Asterisk 616826 EPS15-LIKE PROTEIN 1; EPS15L1 EPS15-RELATED PROTEIN; EPS15R
Number Sign 616827 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W; LGMD2W
Number Sign 616828 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo; CDG2O CDG IIo; CDGIIo
Number Sign 616829 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp; CDG2P CDG IIp; CDGIIp
Asterisk 616830 TRANSPORT AND GOLGI ORGANIZATION 2, DROSOPHILA, HOMOLOG OF; TANGO2 CHROMOSOME 22 OPEN READING FRAME 25; C22ORF25
Number Sign 616831 LUSCAN-LUMISH SYNDROME; LLS
Asterisk 616832 MYOMESIN 3; MYOM3
Number Sign 616833 PAGET DISEASE OF BONE 6; PDB6
Number Sign 616834 MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS; MCCPD SC4MOL DEFICIENCY
Number Sign 616835 MEIER-GORLIN SYNDROME 6; MGORS6
Asterisk 616836 G-PATCH DOMAIN-CONTAINING PROTEIN 2; GPATCH2 GPATC2
Asterisk 616837 HUMAN PLURIPOTENCY-ASSOCIATED TRANSCRIPT 5, NONCODING HPAT5;; LONG INTERGENIC NONCODING RNA HPAT5;; lincRNA HPAT5
Asterisk 616838 C-TYPE LECTIN DOMAIN FAMILY 17, MEMBER A; CLEC17A PROLECTIN
Number Sign 616839 EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI
Number Sign 616840 PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23
Asterisk 616841 ZINC FINGER PROTEIN 468; ZNF468
Asterisk 616842 DNase1 HYPERSENSITIVITY, CHROMOSOME 6, SITE 1; DHS6S1
Number Sign 616843 LYMPHEDEMA, HEREDITARY, III; LMPH3 GENERALIZED LYMPHATIC DYSPLASIA OF FOTIOU
Asterisk 616844 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 17; DNAJC17
Asterisk 616845 C-TYPE LECTIN DOMAIN FAMILY 14, MEMBER A; CLEC14A
Asterisk 616846 ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 1; EMC1 ER MEMBRANE PROTEIN COMPLEX, SUBUNIT 1;; KIAA0090
Asterisk 616847 ZINC FINGER PROTEIN 543; ZNF543
Asterisk 616848 MESODERM INDUCTION-EARLY RESPONSE PROTEIN 1; MIER1 MIER1 TRANSCRIPTIONAL REGULATOR;; KIAA1610
Number Sign 616849 BRACHYDACTYLY, TYPE A1, D; BDA1D
Asterisk 616850 WD REPEAT-CONTAINING PROTEIN 83; WDR83 MITOGEN-ACTIVATED PROTEIN KINASE ORGANIZER 1; MORG1;; MAPK ORGANIZER 1
Number Sign 616851 CATARACT 45; CTRCT45
Number Sign 616852 MYOPATHY, SCAPULOHUMEROPERONEAL; SHPM
Asterisk 616853 FAMILY WITH SEQUENCE SIMILARITY 72, MEMBER C: FAM72C
Number Sign 616854 EVEN-PLUS SYNDROME; EVPLS EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS
Asterisk 616855 CYTOCHROME c OXIDASE, SUBUNIT 8C; COX8C CYTOCHROME c OXIDASE, SUBUNIT VIIIc;; COX VIII-3;; COX8-3
Asterisk 616856 BROMODOMAIN- AND PHD FINGER-CONTAINING PROTEIN 3; BRPF3 KIAA1286
Asterisk 616857 CHLORIDE CHANNEL ACCESSORY 4; CLCA4 CHLORIDE CHANNEL, CALCIUM-ACTIVATED, 4;; CALCIUM-ACTIVATED CHLORIDE CHANNEL 2; CACC2
Number Sign 616858 COWDEN SYNDROME 7; CWS7
Number Sign 616859 SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA; SPAHGC
Number Sign 616860 ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY; SIDBA3
Asterisk 616861 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 9; SLC12A9 CATION-CHLORIDE COTRANSPORTER-INTERACTING PROTEIN 1; CIP1;; CATION-CHLORIDE COTRANSPORTER 6; CCC6;; POTASSIUM-CHLORIDE TRANSPORTER 9
Asterisk 616862 RIBOSOMAL PROTEIN L34; RPL34 60S RIBOSOMAL PROTEIN 34
Number Sign 616863 CHROMOSOME 16p13.2 DELETION SYNDROME
Asterisk 616864 HEXOSAMINIDASE (GLYCOSYL HYDROLASE FAMILY 20, CATALYTIC DOMAIN)-CONTAINING PROTEIN; HEXDC HEXOSAMINIDASE D
Asterisk 616865 POLY(A) POLYMERASE, GAMMA; PAPOLG PAP-GAMMA;; SIGNAL RECOGNITION PARTICLE RNA-ADENYLATING ENZYME;; SRP RNA-ADENYLATING ENZYME;; NEO-PAP
Number Sign 616866 SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1
Number Sign 616867 SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2
Number Sign 616868 DIARRHEA 8, SECRETORY SODIUM, CONGENITAL; DIAR8 DIARRHEA, CONGENITAL SODIUM; CSD
Asterisk 616869 C-TERMINAL DOMAIN NUCLEAR ENVELOPE PHOSPHATASE 1 REGULATORY SUBUNIT 1; CNEP1R1 CTDNEP1 REGULATORY SUBUNIT 1;; NEP1R1;; TRANSMEMBRANE PROTEIN 188; TMEM188;; SPO7, S. CEREVISIAE, HOMOLOG OF;; CHROMOSOME 16 OPEN READING FRAME 69; C16ORF69 ENDOPLASMIC RETICULUM ADAPTOR PROTEIN, INCLUDED; ERADP, INCLUDED
Asterisk 616870 TRANSMEMBRANE PROTEIN 14A; TMEM14A
Number Sign 616871 MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO; MPLPF
Asterisk 616872 TRANSMEMBRANE 9 SUPERFAMILY, MEMBER 3; TM9SF3 SM11044-BINDING PROTEIN; SMBP
Number Sign 616873 IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13
Asterisk 616874 TRANSMEMBRANE BAX INHIBITOR MOTIF-CONTAINING PROTEIN 4; TMBIM4 GOLGI-ASSOCIATED ANTIAPOPTOTIC PROTEIN; GAAP
Number Sign 616875 CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR
Asterisk 616876 TRANSMEMBRANE p24 TRAFFICKING PROTEIN 5; TMED5 TRANSMEMBRANE EMP24 PROTEIN TRANSPORT DOMAIN-CONTAINING PROTEIN 5;; p24, GAMMA-2;; p28
Asterisk 616877 TRANSMEMBRANE PROTEIN 9; TMEM9 TMEM9A;; DERMAL PAPILLA-DERIVED PROTEIN 4; DERM4
Number Sign 616878 METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION; MECRCN
Asterisk 616879 TBC1 DOMAIN FAMILY, MEMBER 22A; TBC1D22A CHROMOSOME 22 OPEN READING FRAME 4; C22ORF4
Asterisk 616880 TBC1 DOMAIN FAMILY, MEMBER 22B; TBC1D22B CHROMOSOME 6 OPEN READING FRAME 197; C6ORF197
Number Sign 616881 LEUKODYSTROPHY, HYPOMYELINATING, 13; HLD13
Number Sign 616882 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3; FASPS3
Asterisk 616883 SIGNAL RECOGNITION PARTICLE RECEPTOR, BETA SUBUNIT; SRPRB SRP RECEPTOR, BETA SUBUNIT;; APMCF1
Asterisk 616884 UNC79, C. ELEGANS, HOMOLOG OF; UNC79
Asterisk 616885 CALCIUM-REGULATED HEAT-STABLE PROTEIN 1; CARHSP1 CALCIUM-REGULATED HEAT-STABLE PROTEIN, 24-KD; CRHSP24;; COLD-SHOCK DOMAIN-CONTAINING PROTEIN C1; CSDC1
Asterisk 616886 GSE1 COILED-COIL PROTEIN; GSE1 KIAA0182
Number Sign 616887 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52; MRT52
Asterisk 616888 TRANSMEMBRANE PROTEIN 8B; TMEM8B NASOPHARYNGEAL CANCER-RELATED GENE 6; NGX6;; NAG5
Asterisk 616889 CENTROSOMAL PROTEIN, 68-KD; CEP68 KIAA0582
Number Sign 616890 SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY; SFMMP
Asterisk 616891 DWARF OPEN READING FRAME DWORF;; LOC100507537
Number Sign 616892 NEPHROTIC SYNDROME, TYPE 12; NPHS12
Number Sign 616893 NEPHROTIC SYNDROME, TYPE 13; NPHS13
Number Sign 616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3
Asterisk 616895 SURVIVAL-ASSOCIATED MITOCHONDRIAL MELANOMA-SPECIFIC ONCOGENIC NONCODING RNA; SAMMSON LONG INTERGENIC NONCODING RNA 1212; LINC01212;; lincRNA 1212
Number Sign 616896 MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14
Number Sign 616897 OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE; OCLSBG
Number Sign 616898 CHROMOSOME 15q14 DELETION SYNDROME
Asterisk 616899 TBC1 DOMAIN-CONTAINING KINASE; TBCK
Number Sign 616900 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3
Number Sign 616901 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR; DEDSSH LOUCKS-INNES SYNDROME
Number Sign 616902 CHROMOSOME 11p13 DELETION SYNDROME, DISTAL
Number Sign 616903 THIOPURINES, POOR METABOLISM OF, 2; THPM2 NUDT15 DEFICIENCY
Asterisk 616904 DEDICATOR OF CYTOKINESIS 5; DOCK5
Asterisk 616905 MORF4 FAMILY-ASSOCIATED PROTEIN 1; MRFAP1 PROTEIN ASSOCIATED WITH MRG, 14-KD; PAM14;; PGR1
Asterisk 616906 CANCER SUSCEPTIBILITY CANDIDATE 1; CASC1 LUNG ADENOMA SUSCEPTIBILITY GENE 1; LAS1;; PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 54; PPP1R54
Number Sign 616907 SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76
Asterisk 616908 PATCHED DOMAIN-CONTAINING PROTEIN 4; PTCHD4 PATCHED PROTEIN, p53-REGULATED; PTCH53;; CHROMOSOME 6 OPEN READING FRAME 138; C6ORF138
Asterisk 616909 COILED-COIL DOMAIN-CONTAINING PROTEIN 68; CCDC68 SE57-1
Number Sign 616910 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3
Number Sign 616911 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4
Asterisk 616912 ENAH/VASP-LIKE PROTEIN; EVL
Number Sign 616913 BLEEDING DISORDER, PLATELET-TYPE, 20; BDPLT20
Number Sign 616914 MARFAN LIPODYSTROPHY SYNDROME; MFLS MARFANOID-PROGEROID SYNDROME;; MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME
Asterisk 616915 ZEB1 ANTISENSE RNA 1, NONCODING; ZEB1AS1 LONG NONCODING RNA ZEB1AS1;; lncRNA ZEB1AS1
Asterisk 616916 SMALL ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 2; SMAP2 SMALL ARFGAP 2;; SMAP1-LIKE; SMAP1L
Number Sign 616917 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13; GPIBD13
Asterisk 616918 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS G PROTEIN; PIGG GPI7, S. CEREVISIAE, HOMOLOG OF; GPI7
Asterisk 616919 FERM AND PDZ DOMAINS-CONTAINING PROTEIN 1; FRMPD1 FERM DOMAIN-CONTAINING PROTEIN 2; FRMD2;; KIAA0967
Number Sign 616920 HEART AND BRAIN MALFORMATION SYNDROME; HBMS
Number Sign 616921 DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET; IOLOD
Number Sign 616922 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2; ADSD2
Asterisk 616923 RING FINGER PROTEIN 207; RNF207 CHROMOSOME 1 OPEN READING FRAME 188; C1ORF188
Number Sign 616924 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2CC
Asterisk 616925 DDHRS4 ANTISENSE RNA 1, NONCODING; DHRS4AS1 LONG NONCODING RNA DHRS4AS1;; lncRNA DHRS4AS1;; AS1DHRS4;; CHROMOSOME 14 OPEN READING FRAME 167; C14ORF67
Asterisk 616926 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 4; FXYD4 CHANNEL-INDUCING FACTOR; CHIF
Asterisk 616927 EXOCYST COMPLEX COMPONENT 3-LIKE 2; EXOC3L2 EXOC3-LIKE 2;; HEPATITIS B VIRUS X ANTIGEN-TRANSACTIVATED GENE 7;; HBV X-TRANSACTIVATED PROTEIN 7; XTP7
Asterisk 616928 TRANSMEMBRANE PROTEIN 45A; TMEM45A DERMAL PAPILLA-DERIVED PROTEIN 7; DERP7;; DNA POLYMERASE-TRANSACTIVATED PROTEIN 4; DNAPTP4
Asterisk 616929 TRANSCRIPTION TERMINATION FACTOR 2, MITOCHONDRIAL; MTERF2 MTERF-LIKE; MTERFL;; MTERFD3
Asterisk 616930 TRANSCRIPTION TERMINATION FACTOR 3, MITOCHONDRIAL; MTERF3 MTERFD1
Asterisk 616931 FUCOSYLTRANSFERASE 10; FUT10 FUCTX
Asterisk 616932 FUCOSYLTRANSFERASE 11; FUT11 FUCTXI
Asterisk 616933 FORTY-TWO-THREE DOMAIN-CONTAINING PROTEIN 1; FYTTD1 UAP56-INTERACTING FACTOR; UIF
Asterisk 616934 MEIOSIS-SPECIFIC PROTEIN WITH COILED-COIL DOMAIN; MEIOC CHROMOSOME 17 OPEN READING FRAME 104; C17ORF104
Asterisk 616935 FAS-ASSOCIATED FACTOR FAMILY, MEMBER 2; FAF2 FAF FAMILY, MEMBER 2;; EXPRESSED IN T CELLS AND EOSINOPHILS IN ATOPIC DERMATITIS; ETEA;; UBX DOMAIN-CONTAINING PROTEIN 8; UBXD8;; KIAA0887
Asterisk 616936 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 9; CHD9 CHROMATIN-RELATED MESENCHYMAL MODULATOR; CREMM;; PPARA-INTERACTING COFACTOR COMPLEX COMPONENT, 320-KD; PRIC320;; PRIC COMPLEX, 320-KD COMPONENT;; KIAA0308
Number Sign 616937 THROMBOCYTOPENIA 6; THC6 THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 6
Number Sign 616938 COFFIN-SIRIS SYNDROME 5; CSS5
Number Sign 616939 CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION; COCPMR
Asterisk 616940 EXONUCLEASE 3-PRIME-TO-5-PRIME DOMAIN-CONTAINING PROTEIN 2; EXD2 EXDL2
Number Sign 616941 AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT; AGM8 AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO TCF3 DEFECT
Asterisk 616942 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 5; PDIA5 PROTEIN DISULFIDE ISOMERASE-RELATED PROTEIN; PDIR
Number Sign 616943 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6
Number Sign 616944 MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41
Asterisk 616945 CLAVESIN 2; CLVS2 CLATHRIN VESICLE-ASSOCIATED SEC14 PROTEIN 2
Number Sign 616946 PREMATURE OVARIAN FAILURE 11; POF11
Number Sign 616947 PREMATURE OVARIAN FAILURE 12; POF12
Number Sign 616948 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22; SCAR22
Number Sign 616949 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23; SCAR23
Number Sign 616950 SPERMATOGENIC FAILURE 15; SPGF15
Asterisk 616951 METASTASIS SUPPRESSOR 1-LIKE PROTEIN; MTSS1L ACTIN-BUNDLING PROTEIN WITH BAIAP2 HOMOLOGY 1; ABBA1;; ABBA
Asterisk 616952 MITOCHONDRIAL CALCIUM UNIPORTER REGULATOR 1; MCUR1 COILED-COIL DOMAIN-CONTAINING PROTEIN 90A; CCDC90A;; FMP32, S. CEREVISIAE, HOMOLOG OF; FMP32
Asterisk 616953 CutA, E. COLI, HOMOLOG OF; CUTA DIVALENT CATION TOLERANCE PROTEIN CUTA;; ACETYLCHOLINESTERASE-ASSOCIATED PROTEIN; ACHAP;; CHROMOSOME 6 OPEN READING FRAME 82; C6ORF82
Number Sign 616954 YOU-HOOVER-FONG SYNDROME; YHFS
Asterisk 616955 RRAD- AND GEM-LIKE GTPase 2; REM2 RAD- AND GEM-LIKE GTP-BINDING PROTEIN 2;; REM-, RAD-, AND GEM-RELATED PROTEIN 2
Asterisk 616956 TUBULIN POLYMERIZATION-PROMOTING PROTEIN FAMILY, MEMBER 2; TPPP2 TPPP FAMILY, MEMBER 2;; p18
Asterisk 616957 TUBULIN POLYMERIZATION-PROMOTING PROTEIN FAMILY, MEMBER 3; TPPP3 TPPP FAMILY, MEMBER 3;; p20
Number Sign 616958 DEAFNESS, AUTOSOMAL RECESSIVE 105; DFNB105
Number Sign 616959 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM
Asterisk 616960 GTPase, IMAP FAMILY, MEMBER 6; GIMAP6 GTPase, IMMUNITY-ASSOCIATED PROTEIN FAMILY, MEMBER 6
Asterisk 616961 GTPase, IMAP FAMILY, MEMBER 7; GIMAP7 GTPase, IMMUNITY-ASSOCIATED PROTEIN FAMILY, MEMBER 7
Asterisk 616962 GTPase, IMAP FAMILY, MEMBER 8; GIMAP8 GTPase, IMMUNITY-ASSOCIATED PROTEIN FAMILY, MEMBER 8
Number Sign 616963 HYPERCALCEMIA, INFANTILE, 2; HCINF2
Caret 616964 MOVED TO 615225
Asterisk 616965 ADHESION G PROTEIN-COUPLED RECEPTOR G5; ADGRG5 G PROTEIN-COUPLED RECEPTOR 114; GPR114
Asterisk 616966 ABHYDROLASE DOMAIN-CONTAINING PROTEIN 6; ABHD6 ALPHA/BETA-HYDROLASE DOMAIN-CONTAINING PROTEIN 6
Asterisk 616967 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 17; TXNDC17 THIOREDOXIN-RELATED PROTEIN, 14-KD; TRP14;; THIOREDOXIN-LIKE PROTEIN 5; TXNL5
Number Sign 616968 DEAFNESS, AUTOSOMAL DOMINANT 70; DFNA70
Number Sign 616969 DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66
Asterisk 616970 MARVEL DOMAIN-CONTAINING PROTEIN 1; MARVELD1 MRVLDC1; MARVD1
Asterisk 616971 ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT PROTEIN 3; ERGIC3 ERGIC AND GOLGI PROTEIN 3;; ENDOPLASMIC RETICULUM-ASSOCIATED PROTEIN, 43-KD; ERP43 BREAST CANCER ANTIGEN NY-BR-84;; CHROMOSOME 20 OPEN READING FRAME 47; C20ORF47
Asterisk 616972 MICRO RNA 490; MIR490 miRNA490
Number Sign 616973 MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42
Number Sign 616974 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30; COXPD30
Number Sign 616975 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH
Asterisk 616976 TRIPARTITE MOTIF-CONTAINING PROTEIN 40; TRIM40 RING FINGER PROTEIN 35; RNF35
Number Sign 616977 MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43
Asterisk 616978 COILED COIL-HELIX-COILED COIL-HELIX DOMAIN-CONTAINING PROTEIN 5; CHCHD5 MITOCHONDRIAL INTERMEMBRANE SPACE CYSTEINE MOTIF PROTEIN, 14-KD; MIC14
Asterisk 616979 DEATH DOMAIN-CONTAINING PROTEIN 1; DTHD1
Asterisk 616980 CHROMOSOME 7 OPEN READING FRAME 49; C7ORF49 CELL CYCLE REGULATOR OF NONHOMOLOGOUS END JOINING; CYREN;; MODULATOR OF RETROVIRUS INFECTION; MRI
Number Sign 616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37
Asterisk 616982 PR DOMAIN-CONTAINING PROTEIN 6; PRDM6 PR DOMAIN-CONTAINING PROTEIN IN SMOOTH MUSCLE; PRISM
Asterisk 616983 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 6; ENPP6 NPP6;; GLYCEROPHOSPHOCHOLINE CHOLINEPHOSPHODIESTERASE;; CHOLINE-SPECIFIC GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE
Asterisk 616984 NEUROPEPTIDE VF PRECURSOR; NPVF RF-AMIDE-RELATED PEPTIDE PRECURSOR; RFRP;; CHROMOSOME 7 OPEN READING FAME 9; C7ORF9
Asterisk 616985 MTRNR2-LIKE 1; MTRNR2L1 HUMANIN-LIKE 1; HN1
Asterisk 616986 LONG INTERGENIC NONCODING RNA AC011288.2 lincRNA AC011288.2;; LOC105375159
Asterisk 616987 CHROMOSOME 6 OPEN READING FRAME 120; C6ORF120
Asterisk 616988 CHRONIC LYMPHOCYTIC LEUKEMIA UPREGULATED GENE 1; CLLU1
Asterisk 616989 CHRONIC LYMPHOCYTIC LEUKEMIA UPREGULATED 1, OPPOSITE STRAND; CLLU1OS
Asterisk 616990 CLUSTERIN-LIKE PROTEIN 1; CLUL1
Asterisk 616991 MUCIN 21, CELL SURFACE-ASSOCIATED; MUC21 EPIGLYCANIN;; CHROMOSOME 6 OPEN READING FRAME 205; C6ORF205
Asterisk 616992 CHROMOSOME 8 OPEN READING FRAME 17; C8ORF17 MOLT-4 SEQUENCE TAG 1; MOST1
Asterisk 616993 TRANSMEMBRANE PROTEIN 243; TMEM243 CHROMOSOME 7 OPEN READING FRAME 23; C7ORF23;; MDR1- AND MITOCHONDRIAL TAXOL RESISTANCE-ASSOCIATED GENE; MMTRAG;; MGC4175
Asterisk 616995 CLOCK-INTERACTING PACEMAKER; CIPC KIAA1737
Asterisk 616996 TRIPARTITE MOTIF-CONTAINING PROTEIN 56; TRIM56
Asterisk 616997 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 7; ENPP7 ALKALINE SPHINGOMYELINASE; ALK-SMase
Asterisk 616998 LLP, APLYSIA, HOMOLOG OF; LLPH LONG-TERM SYNAPTIC FACILITATION PROTEIN LLPH
Asterisk 616999 RNA-BINDING PROTEIN FOX1, C. ELEGANS, HOMOLOG OF, 3; RBFOX3 FOX3;; NEURONAL NUCLEI ANTIGEN; NEUN;; HEXARIBONUCLEOTIDE-BINDING PROTEIN 3; HRNBP3
Asterisk 617000 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 4; ENPP4 NPP4;; KIAA0879
Asterisk 617001 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 5; ENPP5 NPP5
Asterisk 617002 BICD FAMILY-LIKE CARGO ADAPTOR 1; BICDL1 BICAUDAL D-RELATED PROTEIN 1; BICDR1;; COILED-COIL DOMAIN-CONTAINING PROTEIN 64; CCDC64;; CCDC64A
Asterisk 617003 BICD FAMILY-LIKE CARGO ADAPTOR 2; BICDL2 BICAUDAL D-RELATED PROTEIN 2; BICDR2;; COILED-COIL DOMAIN-CONTAINING PROTEIN 64B; CCDC64B
Number Sign 617004 POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS; PCLD2
Asterisk 617005 CLAUDIN 17; CLDN17
Number Sign 617006 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2
Asterisk 617007 TRIPARTITE MOTIF-CONTAINING PROTEIN 35; TRIM35 MACROPHAGE-DERIVED APOPTOSIS-INDUCING RBCC PROTEIN; MAIR;; HEMOPOIETIC LINEAGE SWITCH 5; HLS5;; KIAA1098
Number Sign 617008 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3
Asterisk 617009 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 53; ANKRD53
Asterisk 617010 UNC51-LIKE KINASE 4; ULK4 SERINE/THREONINE PROTEIN KINASE ULK4;; FAM7C1
Number Sign 617011 MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR
Asterisk 617012 POLIOVIRUS RECEPTOR-RELATED IMMUNOGLOBULIN DOMAIN-CONTAINING PROTEIN; PVRIG CD112 RECEPTOR; CD112R;; CHROMOSOME 7 OPEN READING FROME 15; C7ORF15
Number Sign 617013 HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2
Number Sign 617014 NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE; SCN7
Asterisk 617015 PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC, X DOMAIN-CONTAINING PROTEIN 2; PLCXD2 PIPLC X DOMAIN-CONTAINING PROTEIN 2
Asterisk 617016 PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC, X DOMAIN-CONTAINING PROTEIN 3; PLCXD3 PIPLC X DOMAIN-CONTAINING PROTEIN 3
Number Sign 617017 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T; CMT2T CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2T;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2T
Number Sign 617018 SPINOCEREBELLAR ATAXIA 43; SCA43
Asterisk 617019 TRANSMEMBRANE PROTEIN 230; TMEM230 CHROMOSOME 20 OPEN READING FRAME 30; C20ORF30
Number Sign 617020 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38
Number Sign 617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA
Number Sign 617022 LETHAL CONGENITAL CONTRACTURE SYNDROME 10; LCCS10
Number Sign 617023 RETINITIS PIGMENTOSA 75; RP75
Number Sign 617024 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H; CSNB1H
Number Sign 617025 NEVUS COMEDONICUS; NC
Number Sign 617026 PONTOCEREBELLAR HYPOPLASIA, TYPE 2F; PCH2F
Number Sign 617027 HYPERALDOSTERONISM, FAMILIAL, TYPE IV; HALD4 FH IV;; ALDOSTERONISM, PRIMARY, AND HYPERTENSION
Number Sign 617028 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54; MRT54
Asterisk 617029 SEMAPHORIN 4B; SEMA4B
Number Sign 617030 MYOPATHY, DISTAL, 5; MPD5
Asterisk 617031 PRECURSOR mRNA-PROCESSING FACTOR 38, S. CEREVISIAE, HOMOLOG OF, A; PRPF38A PRP38A;; PRP38
Asterisk 617032 PROTEIN-GLUCOSYLGALACTOSYLHYDROXYLYSINE GLUCOSIDASE; PGGHG ACID TREHALASE-LIKE PROTEIN 1; ATHL1
Asterisk 617033 GATS PROTEIN-LIKE 2; GATSL2 CELLULAR ARGININE SENSOR FOR MTORC1 PROTEIN 2; CASTOR2
Asterisk 617034 GATS PROTEIN-LIKE 3; GATSL3 CELLULAR ARGININE SENSOR FOR MTORC1 PROTEIN 1; CASTOR1
Number Sign 617035 PATENT DUCTUS ARTERIOSUS 2; PDA2
Asterisk 617036 ALKALINE CERAMIDASE 3; ACER3 ALKALINE PHYTOCERAMIDASE; APHC;; PHYTOCERAMIDASE, ALKALINE; PHCA
Asterisk 617037 NONCODING RNA ACTIVATED BY DNA DAMAGE; NORAD LONG NONCODING RNA NORAD;; lncRNA NORAD;; LONG INTERGENIC NONCODING RNA 657; LINC00657;; lincRNA 657
Asterisk 617038 LONG INTERGENIC NONCODING RNA 1370; LINC01370 lincRNA 1370;; HUMAN ISLET LONG NONCODING RNA 25; HILNC25
Number Sign 617039 PATENT DUCTUS ARTERIOSUS 3; PDA3
Asterisk 617040 MICRO RNA 1231; MIR1231 miRNA1231
Number Sign 617041 DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS; DURS3
Asterisk 617042 GASDERMIN D; GSDMD GASDERMIN DOMAIN-CONTAINING PROTEIN 1; GSDMDC1;; DFNA5-LIKE; DFNA5L
Asterisk 617043 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 17; ARHGEF17 RHOGEF17;; RHO-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR, 164-KD; p164RHOGEF;; TUMOR ENDOTHELIAL MARKER 4; TEM4;; KIAA0337
Number Sign 617044 SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD
Asterisk 617045 ZINC FINGER PROTEIN 703; ZNF703 ZFP703;; ZINC FINGER ELBOW-RELATED PROLINE DOMAIN PROTEIN 1; ZEPPO1; ZPO1;; NOCA-LIKE ZINC FINGER 1; NLZ1
Number Sign 617046 SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE; SPG77
Number Sign 617047 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5, INCLUDED; RCM5, INCLUDED
Asterisk 617048 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 21; DNAJC21 DNAJ HOMOLOGY SUBFAMILY A, MEMBER 5; DNAJA5
Number Sign 617049 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5
Number Sign 617050 HERMANSKY-PUDLAK SYNDROME 10; HPS10
Number Sign 617051 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55
Number Sign 617052 BONE MARROW FAILURE SYNDROME 3; BMFS3
Number Sign 617053 MIRAGE SYNDROME; MIRAGE MYELODYSPLASIA, INFECTION, RESTRICTION OF GROWTH, ADRENAL HYPOPLASIA, GENITAL PHENOTYPES, AND ENTEROPATHY
Number Sign 617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC LENK-PLOSKI SYNDROME
Number Sign 617055 COLD-INDUCED SWEATING SYNDROME 3; CISS3
Number Sign 617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4
Asterisk 617057 CYTOSOLIC THIOURIDYLASE, SUBUNIT 2; CTU2 CHROMOSOME 16 OPEN READING FRAME 84; C16ORF84;; UPF0432;; NCS2, S. CEREVISIAE, HOMOLOG OF
Asterisk 617058 TSR3, AMINOCARBOXYPROPYL TRANSFERASE RIBOSOME MATURATION FACTOR; TSR3 ACP TRANSFERASE TSR3
Asterisk 617059 ZINC FINGER DBF DOMAIN-CONTAINING PROTEIN 2; ZDBF2 DBF-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 2;; KIAA1571 LONG ISOFORM OF ZDBF2, INCLUDED; LIZ, INCLUDED
Asterisk 617060 LACTASE-LIKE PROTEIN; LCTL KLOTHO, GAMMA; KLG;; GAMMA-KLOTHO;; KLOTHO LACTASE-PHLORIZIN HYDROLASE-RELATED PROTEIN; KLPH
Number Sign 617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44
Number Sign 617062 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS
Number Sign 617063 MEIER-GORLIN SYNDROME 7; MGORS7
Asterisk 617064 GUF1 GTPase, S. CEREVISIAE, HOMOLOG OF; GUF1 ELONGATION FACTOR 4, E. COLI, HOMOLOG OF; EF4
Number Sign 617065 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40; EIEE40
Number Sign 617066 MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC
Asterisk 617067 LY6/PLAUR DOMAIN-CONTAINING PROTEIN 8; LYPD8
Number Sign 617068 PORTAL HYPERTENSION, NONCIRRHOTIC; NCPH
Number Sign 617069 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3
Number Sign 617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4; PEOB4 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 4
Asterisk 617071 LONG NONCODING RNA 13 lncRNA 13; LNC13
Number Sign 617072 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Y; LGMD2Y
Number Sign 617073 TOOTH AGENESIS, SELECTIVE, 8; STHAG8
Asterisk 617074 SMITH-MAGENIS SYNDROME CHROMOSOME REGION, CANDIDATE GENE 8; SMCR8
Number Sign 617075 NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3; NPCA3
Asterisk 617076 FK506-BINDING PROTEIN-LIKE; FKBPL DOWNREGULATED BY IONIZING RADIATION 1; DIR1;; WAF1/CIP1-STABILIZING PROTEIN, 39-KD; WISP39
Asterisk 617077 ZINC FINGER PROTEIN 618; ZNF618 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 10; NEDD10;; KIAA1952
Asterisk 617078 DEATH EFFECTOR DOMAIN-CONTAINING PROTEIN 2; DEDD2 FADD-LIKE ANTIAPOPTOTIC MOLECULE 3; FLAME3
Asterisk 617079 LONG INTERGENIC NONCODING RNA 673; LINC00673 lincRNA 673;; HUMAN ISLET LONG NONCODING RNA 75; HILNC75;; SRA-LIKE NONCODING RNA; SLNCR;; LUCAIR1
Number Sign 617080 SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5; BFIC5
Asterisk 617081 OMA1 ZINC METALLOPEPTIDASE; OMA1 OVERLAPPING ACTIVITY WITH M-AAA PROTEASE;; METALLOPROTEASE-RELATED PROTEIN 1; MPRP1
Number Sign 617082 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa; CDG1AA
Asterisk 617083 DYNEIN, CYTOPLASMIC 2, LIGHT INTERMEDIATE CHAIN 1; DYNC2LI1 DYNEIN 2, LIGHT INTERMEDIATE CHAIN; D2LIC;; LIGHT INTERMEDIATE CHAIN 3; LIC3
Asterisk 617084 TRANSMEMBRANE PROTEIN 59; TMEM59 LIVER MEMBRANE PROTEIN;; DENDRITIC CELL FACTOR 1; DCF1
Asterisk 617085 FIN BUD INITIATION FACTOR, ZEBRAFISH, HOMOLOG OF; FIBIN
Number Sign 617086 ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2; EMPF2
Number Sign 617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B
Number Sign 617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15
Asterisk 617089 NUCLEOLUS AND NEURAL PROGENITOR PROTEIN; NEPRO CHROMOSOME 3 OPEN READING FRAME 17; C3ORF17
Number Sign 617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17
Number Sign 617091 CILIARY DYSKINESIA, PRIMARY, 34; CILD34 CILIARY DYSKINESIA, PRIMARY, 34, WITHOUT SITUS INVERSUS
Number Sign 617092 CILIARY DYSKINESIA, PRIMARY, 35; CILD35 CILIARY DYSKINESIA, PRIMARY, 35, WITH OR WITHOUT SITUS INVERSUS
Number Sign 617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH
Asterisk 617094 INTRAFLAGELLAR TRANSPORT 52, CHLAMYDOMONAS, HOMOLOG OF; IFT52
Asterisk 617095 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 25; TTC25
Asterisk 617096 TRANSMEMBRANE PROTEIN 59-LIKE; TMEM59L BRAIN-SPECIFIC MEMBRANE-ANCHORED PROTEIN; BSMAP
Asterisk 617097 LONG INTERGENIC NONCODING RNA 1194; LINC01194 lincRNA 1194;; TUMOR ANTIGEN GENE; TAG
Asterisk 617098 RIBONUCLEASE K; RNASEK RNase KAPPA;; RNase K
Number Sign 617099 AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS OTULIN-RELATED AUTOINFLAMMATORY SYNDROME; ORAS;; OTULIPENIA
Number Sign 617100 FAMILIAL ADENOMATOUS POLYPOSIS 4; FAP4
Number Sign 617101 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN
Number Sign 617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16
Asterisk 617103 ZINC FINGER PROTEIN 668; ZNF668
Asterisk 617104 PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE, TYPE II, GAMMA; PIP4K2C PIP4K2-GAMMA;; PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE II, GAMMA; PIP5K2C
Number Sign 617105 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41
Number Sign 617106 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42
Number Sign 617107 THAUVIN-ROBINET-FAIVRE SYNDROME; TROFAS
Number Sign 617108 SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS
Asterisk 617109 CREB3 RECRUITMENT FACTOR; CREBRF LUMAN RECRUITMENT FACTOR; LRF;; CHROMOSOME 5 OPEN READING FRAME 41; C5ORF41
Asterisk 617110 CENTROSOMAL PROTEIN, 78-KD; CEP78
Number Sign 617111 MACULAR DYSTROPHY, PATTERNED, 3; MDPT3 MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY
Asterisk 617112 KIAA0753 GENE; KIAA0753 OFD1- AND FOPNL-INTERACTING PROTEIN; OFIP;; MOONRAKER
Number Sign 617113 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43
Number Sign 617114 MYOPATHY, MYOFIBRILLAR, 7; MFM7
Number Sign 617115 PEELING SKIN SYNDROME 5; PSS5
Number Sign 617116 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2; FFEVF2
Asterisk 617117 LONG INTERGENIC NONCODING RNA 663; LINC00663 lincRNA 663
Number Sign 617118 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3
Number Sign 617119 BARDET-BIEDL SYNDROME 20; BBS20
Number Sign 617120 JOUBERT SYNDROME 27; JBTS27
Number Sign 617121 JOUBERT SYNDROME 28; JBTS28
Asterisk 617122 C1QTNF9B ANTISENSE RNA 1; C1QTNF9BAS1 PROSTATE COLLAGEN TRIPLE-HELIX PROTEIN; PCOTH
Number Sign 617123 RETINITIS PIGMENTOSA 76; RP76
Asterisk 617124 PEPTIDASE M20 DOMAIN-CONTAINING PROTEIN 1; PM20D1
Number Sign 617125 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56; MRT56
Number Sign 617126 ALAZAMI-YUAN SYNDROME; ALYUS
Number Sign 617127 OROFACIODIGITAL SYNDROME XV; OFD15 OFDS XV;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XV
Asterisk 617128 CHROMOSOME 15 OPEN READING FRAME 59; C15ORF59 INHIBITORY SYNAPTIC PROTEIN 1; INSYN1
Asterisk 617129 FAMILY WITH SEQUENCE SIMILARITY 196, MEMBER A; FAM196A CHROMOSOME 10 OPEN READING FRAME 141; C10ORF141;; INHIBITORY SYNAPTIC PROTEIN 2; INSYN2
Asterisk 617130 MEMBRANE-ANCHORED JUNCTION PROTEIN; MAJIN CHROMOSOME 11 OPEN READING FRAME 85; C11ORF85
Asterisk 617131 TELOMERE REPEAT-BINDING BOUQUET FORMATION PROTEIN 2; TERB2 CHROMOSOME 15 OPEN READING FRAME 43; C15ORF43
Number Sign 617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44
Number Sign 617133 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24
Asterisk 617134 TRANSMEMBRANE AND COILED-COIL DOMAINS PROTEIN 3; TMCO3 CHROMOSOME 13 OPEN READING FRAME 11; C13ORF11
Asterisk 617135 L3MBT-LIKE 4; L3MBTL4
Asterisk 617136 LONG NONCODING RNA HIPSTR HETEROGENOUSLY EXPRESSED FROM THE INTRONIC PLUS STRAND OF THE TFAP2A LOCUS RNA; HIPSTR;; lncRNA HIPSTR
Number Sign 617137 FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2
Asterisk 617138 SKI FAMILY TRANSCRIPTIONAL COREPRESSOR 2; SKOR2 FUNCTIONAL SMAD-SUPPRESSING ELEMENT ON CHROMOSOME 18; FUSSEL18;; CORL2
Asterisk 617139 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 7B; LGALS7B
Number Sign 617140 ZTTK SYNDROME; ZTTKS ZHU-TOKITA-TAKENOUCHI-KIM SYNDROME;; ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
Number Sign 617141 ANIRIDIA 2; AN2
Number Sign 617142 ANIRIDIA 3; AN3
Number Sign 617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC; CMS20
Asterisk 617144 MICRO RNA 4435-2 HOST GENE, NONCODING; MIR4435-2HG MIR4435-2 HOST GENE;; miRNA4435-2 HOST GENE;; LONG NONCODING RNA MORRBID;; lncRNA MORRBID;; MYELOID RNA REGULATOR OF BIM-INDUCED DEATH
Number Sign 617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP
Number Sign 617146 ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT
Asterisk 617147 COILED-COIL DOMAIN-CONTAINING PROTEIN 14; CCDC14
Asterisk 617148 DEUTEROSOME ASSEMBLY PROTEIN 1; DEUP1 COILED-COIL DOMAIN-CONTAINING PROTEIN 67; CCDC67
Asterisk 617149 FGFR1OP N-TERMINAL DOMAIN-LIKE PROTEIN; FOPNL FOP-RELATED PROTEIN, 20-KD; FOR20;; CHROMOSOME 16 OPEN READING FRAME 63; C16ORF63
Asterisk 617150 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 3; ZDHHC3 DHHC3;; GOLGI-SPECIFIC DHHC ZINC FINGER PROTEIN; GODZ
Asterisk 617151 SULFOTRANSFERASE FAMILY 1C, MEMBER 3; SULT1C3
Asterisk 617152 SULFOTRANSFERASE FAMILY 6B, MEMBER 1; SULT6B1
Number Sign 617153 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45; EIEE45
Asterisk 617154 MRN COMPLEX-INTERACTING PROTEIN; MRNIP CHROMOSOME 5 OPEN READING FRAME 45; C5ORF45
Asterisk 617155 SUPPRESSION OF TUMORIGENICITY 18; ST18 ZINC FINGER PROTEIN 387; ZNF387;; KIAA0535
Number Sign 617156 MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15
Number Sign 617157 SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES; SBIDDS
Number Sign 617158 MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV
Number Sign 617159 SIFRIM-HITZ-WEISS SYNDROME; SIHIWES SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
Asterisk 617160 PROMININ 2; PROM2 PROMININ-LIKE PROTEIN 2; PROML2
Asterisk 617161 GSG1-LIKE PROTEIN; GSG1L
Number Sign 617162 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46
Asterisk 617163 RING FINGER PROTEIN 186; RNF186
Number Sign 617164 SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY; SRMMD
Asterisk 617165 FAMILY WITH SEQUENCE SIMILARITY 213, MEMBER A; FAM213A PEROXIREDOXIN ACTIVATED IN MCSF-STIMULATED MONOCYTES; PAMM;; CHROMOSOME 10 OPEN READING FRAME 58
Number Sign 617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47
Asterisk 617167 SOLUTE CARRIER FAMILY 35, MEMBER G1; SLC35G1 PARTNER OF STIM1; POST;; TRANSMEMBRANE PROTEIN 20; TMEM20;; CHROMOSOME 10 OPEN READING FRAME 60; C10ORF60
Number Sign 617168 AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10 AORTIC ANEURYSM, THORACIC, WITH OR WITHOUT AORTIC DISSECTION
Number Sign 617169 SOTOS SYNDROME 3; SOTOS3
Asterisk 617170 CWC27 SPLICEOSOME-ASSOCIATED PROTEIN, S. CEREVISIAE, HOMOLOG OF; CWC27 SEROLOGICALLY DEFINED COLON CANCER ANTIGEN 10: SDCCAG10;; NY-CO-10
Number Sign 617171 DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; DYSEIDD
Asterisk 617172 GLUTATHIONE PEROXIDASE 8; GPX8
Number Sign 617173 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA
Number Sign 617174 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2
Number Sign 617175 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA
Asterisk 617176 MICRO RNA 4271; MIR4271 miRNA4271
Asterisk 617177 MYOSIN LIGHT CHAIN 10; MYL10 PRECURSOR LYMPHOCYTE-SPECIFIC REGULATORY LIGHT CHAIN; PLRLC
Asterisk 617178 RING FINGER PROTEIN 166; RNF166
Asterisk 617179 PROMOTER OF CDKN1A ANTISENSE DNA DAMAGE-ACTIVATED RNA; PANDAR PANDA
Number Sign 617180 CHITAYAT SYNDROME; CHYTS
Asterisk 617181 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 4; TMC4
Number Sign 617182 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI
Number Sign 617183 HAREL-YOON SYNDROME; HAYOS
Number Sign 617184 MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A
Asterisk 617185 NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 7; NSUN7 NOL1/NOP2/SUN DOMAIN FAMILY, MEMBER 7
Number Sign 617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL
Number Sign 617187 SPERMATOGENIC FAILURE 16; SPGF16 ACEPHALIC SPERMATOZOA SYNDROME
Number Sign 617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57
Asterisk 617189 TRANSMEMBRANE PROTEIN 110; TMEM110 STIM-ACTIVATING ENHANCER; STIMATE
Number Sign 617190 SHASHI-PENA SYNDROME; SHAPNS
Asterisk 617191 p38-INHIBITED CUTANEOUS SQUAMOUS CELL CARCINOMA-ASSOCIATED LONG INTERGENIC NONCODING RNA; PICSAR lincRNA PICSAR;; LONG INTERGENIC NONCODING RNA 162; LINC00162;; NARCOLEPSY CANDIDATE REGION GENE 1C; NLC1C
Asterisk 617192 ENDONUCLEASE/EXONUCLEASE/PHOSPHATASE FAMILY DOMAIN-CONTAINING PROTEIN 1; EEPD1 KIAA1706
Number Sign 617193 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT
Number Sign 617194 LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11
Asterisk 617195 MUSCULOSKELETAL EMBRYONIC NUCLEAR PROTEIN 1; MUSTN1 MUSCULOSKELETAL TEMPORALLY ACTIVATED NOVEL GENE; MUSTANG
Asterisk 617196 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 3; TMC3
Asterisk 617197 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 5; TMC5
Asterisk 617198 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 7; TMC7
Asterisk 617199 NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 6; NSUN6 NOL1/NOP2/SUN DOMAIN FAMILY, MEMBER 6
Asterisk 617200 OLIGODENDROCYTIC MYELIN PARANODAL AND INNER LOOP PROTEIN; OPALIN TRANSMEMBRANE PROTEIN 10; TMEM10;; HTMP10; TMP10
Number Sign 617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7
Asterisk 617202 FORKHEAD BOX I2; FOXI2
Asterisk 617203 TRANSMEMBRANE PROTEIN 87B; TMEM87B
Asterisk 617204 VIMENTIN-TYPE INTERMEDIATE FILAMENT-ASSOCIATED COILED-COIL PROTEIN; VMAC
Number Sign 617205 HETEROTAXY, VISCERAL, 8, AUTOSOMAL; HTX8
Asterisk 617206 NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 3; NEURL3 LUNG-INDUCIBLE NEURALIZED-RELATED C3HC4 RING DOMAIN PROTEIN; LINCR
Number Sign 617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO
Asterisk 617208 MAM DOMAIN-CONTAINING PROTEIN 4; MAMDC4
Asterisk 617209 GLUTAMINYL-tRNA SYNTHASE (GLUTAMINE-HYDROLYZING)-LIKE PROTEIN 1; QRSL1 GLUTAMYL-tRNA AMIDOTRANSFERASE, SUBUNIT A; GATA;; GLUTAMYL-tRNA-GLN AMIDOTRANSFERASE, SUBUNIT A, MITOCHONDRIAL
Asterisk 617210 GLUTAMYL-tRNA AMIDOTRANSFERASE, SUBUNIT C; GATC GLUTAMYL-tRNA-GLN AMIDOTRANSFERASE, SUBUNIT C, MITOCHONDRIAL
Asterisk 617211 DERMOKINE; DMKN
Asterisk 617212 KERATINOCYTE DIFFERENTIATION-ASSOCIATED PROTEIN; KRTDAP KDAP
Number Sign 617213 SEDOHEPTULOKINASE DEFICIENCY; SHPKD
Number Sign 617214 SPERMATOGENIC FAILURE 17; SPGF17 MALE INFERTILITY DUE TO OOCYTE ACTIVATION FAILURE
Asterisk 617215 CHROMOSOME 17 OPEN READING FRAME 49; C17ORF49 BPTF-ASSOCIATED PROTEIN, 18-KD; BAP18
Asterisk 617216 ZINC FINGER PROTEIN 420; ZNF420 ATM- AND p53-ASSOCIATED KZNF PROTEIN; APAK
Number Sign 617217 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6
Asterisk 617218 TRANSMEMBRANE AND TETRATRICOPEPTIDE REPEAT DOMAINS-CONTAINING PROTEIN 3; TMTC3 SMILE
Number Sign 617219 CHROMOSOME 19q13.11 DELETION SYNDROME, PROXIMAL
Asterisk 617220 PYRIDINE NUCLEOTIDE-DISULFIDE OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 1; PYROXD1 PNDR DOMAIN-CONTAINING PROTEIN 1
Asterisk 617221 HEXOKINASE DOMAIN-CONTAINING PROTEIN 1; HKDC1
Number Sign 617222 SUDDEN CARDIAC FAILURE, INFANTILE; SCFI
Number Sign 617223 SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED; SCFAI
Asterisk 617224 GROWTH ARREST-SPECIFIC 2-LIKE 3; GAS2L3 GAS2-LIKE 3; G2L3
Number Sign 617225 SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78
Asterisk 617226 MITOGEN-ACTIVATED PROTEIN KINASE 1-INTERACTING PROTEIN 1-LIKE PROTEIN; MAPK1IP1L MAPK1IP1-LIKE PROTEIN;; MAPK1IP1, MOUSE, HOMOLOG OF;; MAPK-INTERACTING AND SPINDLE-STABILIZING PROTEIN, MOUSE, HOMOLOG OF; MISS;; MISS, MOUSE, HOMOLOG OF
Asterisk 617227 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3C; ATAD3C
Number Sign 617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31; COXPD31
Asterisk 617229 FAMILY WITH SEQUENCE SIMILARITY 53, MEMBER A; FAM53A DORSAL NEURAL TUBE NUCLEAR PROTEIN; DNTNP
Asterisk 617230 ZINC FINGER PROTEIN 1, MOUSE, HOMOLOG OF; ZFP1 ZINC FINGER PROTEIN 475; ZNF475
Asterisk 617231 PHOSPHOLYSINE PHOSPHOHISTIDINE INORGANIC PYROPHOSPHATE PHOSPHATASE; LHPP
Number Sign 617232 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z; LGMD2Z
Asterisk 617233 WD REPEAT-CONTAINING PROTEIN 70; WDR70
Number Sign 617234 PREIMPLANTATION EMBRYONIC LETHALITY 2; PREMBL2
Number Sign 617235 MYOCLONUS, INTRACTABLE, NEONATAL; NEIMY
Number Sign 617236 CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL
Number Sign 617237 IMMUNODEFICIENCY 49; IMD49 SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES;; SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES
Number Sign 617238 MYOPIA 25, AUTOSOMAL DOMINANT; MYP25
Number Sign 617239 MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC; CMS21
Asterisk 617240 HAND2 ANTISENSE RNA 1, NONCODING; HAND2AS1 UPPERHAND; UPH;; DIFFERENTIALLY EXPRESSED IN NEUROBLASTOMA; DEIN
Number Sign 617241 LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS
Asterisk 617242 TRANS-2,3-ENOYL-CoA REDUCTASE-LIKE PROTEIN; TECRL TECR-LIKE PROTEIN;; TER-LIKE PROTEIN; TERL;; STEROID 5-ALPHA-REDUCTASE 2-LIKE 2; SRD5A2L2;; GPSN2-LIKE; GPSN2L
Number Sign 617243 FANCONI ANEMIA, COMPLEMENTATION GROUP V; FANCV
Number Sign 617244 FANCONI ANEMIA, COMPLEMENTATION GROUP R; FANCR
Asterisk 617245 HECT, C2, AND WW DOMAINS-CONTAINING E3 UBIQUITIN-PROTEIN LIGASE 2; HECW2 NEDD4-LIKE E3 UBIQUITIN-PROTEIN LIGASE 2; NEDL2;; KIAA1301
Asterisk 617246 NON-SMC ELEMENT 2, S. CEREVISIAE, HOMOLOG OF; NSMCE2 NSE2;; MMS21, S. CEREVISIAE, HOMOLOG OF; MMS21;; SMC5/SMC6 COMPLEX SUMO LIGASE NSMCE2
Number Sign 617247 FANCONI ANEMIA, COMPLEMENTATION GROUP U; FANCU
Number Sign 617248 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8
Asterisk 617249 FAMILY WITH SEQUENCE SIMILARITY 122, MEMBER A; FAM122A CHROMOSOME 9 OPEN READING FRAME 42; C9ORF42
Asterisk 617250 ELKS/RAB6-INTERACTING/CAST FAMILY, MEMBER 2; ERC2 CYTOMATRIX PROTEIN, 110-KD;; CAZ-ASSOCIATED STRUCTURAL PROTEIN; CAST;; CAST1;; KIAA0378
Number Sign 617251 UNCOMBABLE HAIR SYNDROME 2; UHS2
Number Sign 617252 UNCOMBABLE HAIR SYNDROME 3; UHS3
Number Sign 617253 SECKEL SYNDROME 10; SCKL10
Asterisk 617254 LAMIN TAIL DOMAIN-CONTAINING PROTEIN 1; LMNTD1 INTERMEDIATE FILAMENT TAIL DOMAIN-CONTAINING PROTEIN 1; IFLTD1;; LAMIN A-RELATED SEQUENCE 1; LMNARS1;; PAS1 CANDIDATE 1, MOUSE, HOMOLOG OF; PAS1C1
Number Sign 617255 LISSENCEPHALY 8; LIS8
Asterisk 617256 SOLUTE CARRIER FAMILY 7, MEMBER 13; SLC7A13 SODIUM-INDEPENDENT ASPARTATE/GLUTAMATE TRANSPORTER 1; AGT1;; X AMINO ACID TRANSPORTER 2; XAT2
Asterisk 617257 SPERMATOGENESIS-ASSOCIATED PROTEIN 46; SPATA46
Number Sign 617258 MYOPATHY, MYOFIBRILLAR, 8; MFM8
Asterisk 617259 DDB1- AND CUL4-ASSOCIATED FACTOR 1; DCAF1 VPR-INTERACTING PROTEIN; RIP;; VPR-BINDING PROTEIN; VPRBP;; KIAA0800
Number Sign 617260 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF
Asterisk 617261 TRANSMEMBRANE PROTEIN 261; TMEM261 DISTAL MEMBRANE ARM ASSEMBLY COMPONENT 1; DMAC1;; CHROMOSOME 9 OPEN READING FRAME 123; C9ORF123
Asterisk 617262 ATP5S-LIKE PROTEIN; ATP5SL
Asterisk 617263 NON-SMC ELEMENT 1, S. CEREVISIAE, HOMOLOG OF; NSMCE1 NSE1;; SMC5-SMC6 COMPLEX COMPONENT NSE1
Asterisk 617264 SR-RELATED C-TERMINAL DOMAIN-ASSOCIATED FACTOR 1; SCAF1 SR-RELATED CTD-ASSOCIATED FACTOR 1;; SERINE- AND ARGININE-RICH PRE-mRNA SPLICING FACTOR SRA1
Asterisk 617265 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 9; KCTD9 BTB/POZ DOMAIN-CONTAINING PROTEIN 27; BTBD27
Asterisk 617266 KIAA0825 GENE; KIAA0825
Asterisk 617267 MATRIX AAA PEPTIDASE-INTERACTING PROTEIN 1; MAIP1 CHROMOSOME 2 OPEN READING FAME 47; C2ORF47
Number Sign 617268 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL
Asterisk 617269 SOCS2 ANTISENSE RNA 1, NONCODING; SOCS2AS1 LONG NONCODING RNA SOCS2AS1;; lncRNA SOCS2AS1
Number Sign 617270 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58
Number Sign 617271 NEPHRONOPHTHISIS 20; NPHP20
Number Sign 617272 GLAUCOMA 3, PRIMARY CONGENITAL, E; GLC3E
Asterisk 617273 FAMILY WITH SEQUENCE SIMILARITY 92, MEMBER A; FAM92A FAM92A1
Asterisk 617274 FAMILY WITH SEQUENCE SIMILARITY 92, MEMBER B; FAM92B
Number Sign 617275 TOOTH AGENESIS, SELECTIVE, 9; STHAG9
Number Sign 617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48
Asterisk 617277 DYNEIN HEAVY CHAIN DOMAIN 1; DNHD1 COILED-COIL DOMAIN-CONTAINING PROTEIN 35;; FLJ00251
Asterisk 617278 DENN DOMAIN-CONTAINING PROTEIN 5A; DENND5A RAB6-INTERACTING PROTEIN 1; RAB6IP1;; KIAA1091
Asterisk 617279 DENN DOMAIN-CONTAINING PROTEIN 5B; DENND5B RAB6IP-LIKE PROTEIN
Number Sign 617280 ATRIAL FIBRILLATION, FAMILIAL, 18; ATFB18
Number Sign 617281 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49
Number Sign 617282 DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES; DYTOABG DYSTONIA 29, CHILDHOOD-ONSET; DYT29
Asterisk 617283 YTH DOMAIN-CONTAINING PROTEIN 1; YTHDC1 YT521;; YT521B;; KIAA1966
Number Sign 617284 DYSTONIA 28, CHILDHOOD-ONSET; DYT28
Asterisk 617285 HIGH MOBILITY GROUP BOX 4; HMGB4 HIGH MOBILITY GROUP PROTEIN B4;; HMG2-LIKE
Asterisk 617286 PITX2 ADJACENT NONCODING RNA; PANCR LONG NONCODING RNA PANCR;; lncRNA PANCR
Asterisk 617287 PHOSPHOLIPID PHOSPHATASE-RELATED PROTEIN 5; PLPPR5 PLASTICITY-RELATED GENE 5; PRG5;; LIPID PHOSPHATE PHOSPHATASE-RELATED 5; LPPR5;; PHOSPHATIDIC ACID PHOSPHATASE 2D; PAP2D;; PHOSPHATIDIC ACID PHOSPHATASE TYPE 2; PAP2
Asterisk 617288 SERINE PEPTIDASE INHIBITOR, KAZAL-TYPE, 7; SPINK7 ESOPHAGUS CANCER-RELATED GENE 2; ECRG2
Asterisk 617289 FAMILY WITH SEQUENCE SIMILARITY 53, MEMBER B; FAM53B SIMPLET, MEDAKA, HOMOLOG OF;; KIAA0140
Number Sign 617290 EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D
Asterisk 617291 TRANSMEMBRANE PROTEIN 150B; TMEM150B DAMAGE-REGULATED AUTOPHAGY MODULATOR 3; DRAM3;; TENTONIN 2; TTN2;; TMEM224
Asterisk 617292 TRANSMEMBRANE PROTEIN 150C; TMEM150C TENTONIN 3; TTN3
Asterisk 617293 MATRIX REMODELING-ASSOCIATED PROTEIN 8; MXRA8 LIMITRIN;; ADIPOCYTE-SPECIFIC PROTEIN 3; ASP3
Number Sign 617294 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS; EBSSH
Asterisk 617295 RUN DOMAIN-CONTAINING PROTEIN 3B; RUNDC3B RAP2-INTERACTING PROTEIN 9; RPIP9
Number Sign 617296 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO
Number Sign 617297 AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J
Asterisk 617298 APOPTOSIS-INDUCING FACTOR, MITOCHONDRIA-ASSOCIATED, 3; AIFM3 APOPTOSIS-INDUCING FACTOR-LIKE; AIFL
Asterisk 617299 RPA-INTERACTING PROTEIN; RPAIN RAP-INTERACTING PROTEIN; RIP
Number Sign 617300 HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD
Number Sign 617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
Number Sign 617302 OPTIC ATROPHY 11; OPA11
Number Sign 617303 MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME; MPSPS
Number Sign 617304 RETINITIS PIGMENTOSA 77; RP77
Asterisk 617305 FAMILY WITH SEQUENCE SIMILARITY 26, MEMBER F; FAM26F IRF3-DEPENDENT NATURAL KILLER CELL-ACTIVATING MOLECULE; INAM
Number Sign 617306 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD
Asterisk 617307 CHROMOSOME 14 OPEN READING FRAME 39; C14ORF39 SIX6 OPPOSITE STRAND TRANSCRIPT 1; SIX6OS1
Number Sign 617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6
Asterisk 617309 IMMUNOGLOBULIN-LIKE AND FIBRONECTIN TYPE III DOMAINS-CONTAINING PROTEIN 1; IGFN1 EEF1A2-BINDING PROTEIN 1; EEF1A2BP1
Asterisk 617310 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 3; ANKS3
Asterisk 617311 ZYMOGEN GRANULE PROTEIN, 16-KD; ZG16 ZG16A;; JACALIN-LIKE LECTIN DOMAIN-CONTAINING PROTEIN 1; JCLN1
Asterisk 617312 FAMILY WITH SEQUENCE SIMILARITY 160, MEMBER B1; FAM160B1 KIAA1600
Asterisk 617313 SH2 DOMAIN-CONTAINING ADAPTOR PROTEIN F; SHF
Asterisk 617314 SH3 DOMAIN- AND SYLF DOMAIN-CONTAINING PROTEIN 1; SH3YL1 SH3 DOMAIN-CONTAINING YSC84-LIKE PROTEIN 1
Number Sign 617315 ANTERIOR SEGMENT DYSGENESIS 6; ASGD6
Asterisk 617316 TP53 TARGET GENE 5; TP53TG5
Asterisk 617317 ZINC FINGER PROTEIN 30, MOUSE, HOMOLOG OF; ZFP30 ZINC FINGER PROTEIN 745; ZNF745;; KIAA0961
Asterisk 617318 RUN DOMAIN- AND SH3 DOMAIN-CONTAINING PROTEIN 1; RUSC1 NEW MOLECULE CONTAINING SH3 DOMAIN AT THE C TERMINUS; NESCA
Number Sign 617319 ANTERIOR SEGMENT DYSGENESIS 8; ASGD8
Number Sign 617320 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12
Number Sign 617321 YAO SYNDROME; YAOS
Asterisk 617322 SH3KBP1-BINDING PROTEIN 1; SHKBP1 SETA-BINDING PROTEIN 1; SB1
Number Sign 617323 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59; MRT59
Asterisk 617324 SHISA FAMILY, MEMBER 2; SHISA2 CHROMOSOME 13 OPEN READING FRAME 13; C13ORF13;; TRANSMEMBRANE PROTEIN 46; TMEM46
Asterisk 617325 SHISA FAMILY, MEMBER 3; SHISA3
Asterisk 617326 SHISA FAMILY, MEMBER 4; SHISA4 CHROMOSOME 1 OPEN READING FRAME 40; C1ORF40;; TRANSMEMBRANE PROTEIN 58; TMEM58
Asterisk 617327 SHISA FAMILY, MEMBER 6; SHISA6
Asterisk 617328 SHISA FAMILY, MEMBER 7; SHISA7
Asterisk 617329 SHISA FAMILY, MEMBER 8; SHISA8
Number Sign 617330 HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS
Asterisk 617331 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 4B; MFSD4B SODIUM-DEPENDENT GLUCOSE TRANSPORTER 1; NAGLT1;; KIAA1919
Asterisk 617332 TELOMERE REPEAT-BINDING BOUQUET FORMATION PROTEIN 1; TERB1 COILED-COIL DOMAIN-CONTAINING PROTEIN 79; CCDC79
Number Sign 617333 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP
Asterisk 617334 ZINC FINGER DHHC-TYPE CONTAINING 23; ZDHHC23 NEURONAL NITRIC OXIDE SYNTHASE-INTERACTING DHHC DOMAIN-CONTAINING PROTEIN WITH DENDRITIC mRNA; NIDD
Asterisk 617335 EMOPAMIL-BINDING PROTEIN-LIKE; EBPL
Number Sign 617336 NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE; NEM11
Number Sign 617337 ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12
Asterisk 617338 NUDIX HYDROLASE 16-LIKE 1; NUDT16L1 SYNDESMOS; SDOS;; TUDOR-INTERACTING REPAIR REGULATOR; TIRR
Number Sign 617339 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51; EIEE51
Asterisk 617340 URIDINE PHOSPHORYLASE 2; UPP2 UPase2
Number Sign 617341 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2
Asterisk 617342 PEPTIDYL-tRNA HYDROLASE DOMAIN-CONTAINING 1; PTRHD1 CHROMOSOME 2 OPEN READING FRAME 79; C2ORF79
Number Sign 617343 HYPERPARATHYROIDISM 4; HRPT4
Asterisk 617344 PEAK1-RELATED KINASE-ACTIVATING PSEUDOKINASE 1; PRAG1 PRAGMA OF RND2; PRAGMIN;; NOTCH ACTIVATION COMPLEX KINASE; NACK
Asterisk 617345 ATP/GTP-BINDING PROTEIN-LIKE 2; AGBL2 CYTOSOLIC CARBOXYPEPTIDASE 2; CCP2
Asterisk 617346 ATP/GTP-BINDING PROTEIN-LIKE 3; AGBL3 CYTOSOLIC CARBOXYPEPTIDASE 3; CCP3
Number Sign 617347 HYPERLIPOPROTEINEMIA, TYPE III APOLIPOPROTEIN E, DEFICIENCY OR DEFECT OF;; DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E-d;; FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA;; FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA;; HYPERLIPEMIA WITH FAMILIAL HYPERCHOLESTEROLEMIC XANTHOMATOSIS;; BROAD-BETALIPOPROTEINEMIA;; FLOATING-BETALIPOPROTEINEMIA CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO, INCLUDED;; LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5, INCLUDED; LDLCQ5, INCLUDED
Asterisk 617348 CARBOXYPEPTIDASE X, M14 FAMILY, MEMBER 2; CPXM2 CPX2
Number Sign 617349 AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11
Number Sign 617350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52
Asterisk 617351 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 10; IGSF10
Number Sign 617352 MULCHANDANI-BHOJ-CONLIN SYNDROME; MBCS UNIPARENTAL DISOMY, MATERNAL, CHROMOSOME 20
Asterisk 617353 TCTEX1 DOMAIN-CONTAINING PROTEIN 2; TCTEX1D2
Asterisk 617354 CHROMOBOX HOMOLOG 8; CBX8 POLYCOMB 3; PC3
Asterisk 617355 EP300-INTERACTING INHIBITOR OF DIFFERENTIATION 2B; EID2B
Asterisk 617356 SUBCOMMISSURAL ORGAN SPONDIN; SSPO SCO-SPONDIN
Asterisk 617357 ZINC FINGER PROTEIN 222; ZNF222
Asterisk 617358 SYNDECAN-BINDING PROTEIN 2; SDCBP2 SIMILAR TO TACIP18; SITAC;; SYNTENIN-2; ST2;; SITAC18
Asterisk 617359 STORKHEAD BOX 2; STOX2 KIAA1392
Number Sign 617360 CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD
Asterisk 617361 TRANSMEMBRANE PROTEIN 108; TMEM108 RETROLINKIN; RTLN;; KIAA1690
Asterisk 617362 DEAH BOX POLYPEPTIDE 37; DHX37 DEAD/DEAH BOX 37;; KIAA1517
Asterisk 617363 TRANSMEMBRANE PROTEIN 132A; TMEM132A GRP78-BINDING PROTEIN; GBP;; KIAA1583
Number Sign 617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED
Asterisk 617365 AAR2 SPLICING FACTOR, S. CEREVISIAE, HOMOLOG OF; AAR2 CHROMOSOME 20 OPEN READING FRAME 4; C20ORF4
Asterisk 617366 COILED-COIL DOMAIN-CONTAINING PROTEIN 91; CCDC91 p56
Asterisk 617367 KIAA1217 GENE; KIAA1217 SICKLE TAIL, MOUSE, HOMOLOG OF; SKT
Asterisk 617368 SH3 DOMAIN-BINDING PROTEIN 1; SH3BP1 RHO GTPase-ACTIVATING PROTEIN 43; ARHGAP43;; 3BP1 BARGIN, INCLUDED; BGIN, INCLUDED;; SH3BP1/PDXP FUSION GENE, INCLUDED
Asterisk 617369 HYALURONAN-BINDING PROTEIN 4; HABP4 INTRACELLULAR HYALURONAN-BINDING PROTEIN 4; IHABP4;; KI1-INTERACTING 57-KD INTRACELLULAR ANTIGEN;; KI1/57
Number Sign 617370 PEROXISOME BIOGENESIS DISORDER 10B; PBD10B
Asterisk 617371 ZINC FINGER PROTEIN 462; ZNF462 KIAA1803
Asterisk 617372 SHC TRANSFORMING PROTEIN 4; SHC4 SHC ADAPTOR PROTEIN 4;; RAI-LIKE PROTEIN; RALP;; SHC PROTEIN D; SHCD;; SH2 DOMAIN PROTEIN C4
Asterisk 617373 PROLINE-RICH COILED-COIL PROTEIN 2C; PRRC2C KIAA1096
Asterisk 617374 INHIBITOR OF CDK, CYCLIN A1-INTERACTING PROTEIN 1; INCA1 HSD45
Asterisk 617375 KELCH DOMAIN-CONTAINING PROTEIN 9; KLHDC9 KELCH/ANKYRIN REPEAT-CONTAINING CYCLIN A1-INTERACTING PROTEIN; KARCA1
Asterisk 617376 PROLINE-RICH CYCLIN A1-INTERACTING PROTEIN; PROCA1
Asterisk 617377 SYNAPSE DEFECTIVE RHO GTPase, C. ELEGANS, HOMOLOG OF, 1; SYDE1 SYD1
Asterisk 617378 MYOSIN LIGHT CHAIN, PHOSPHORYLATABLE, FAST SKELETAL MUSCLE; MYLPF MYOSIN LIGHT CHAIN 2B; MLC2B;; MYOSIN REGULATORY LIGHT CHAIN 2, SKELETAL MUSCLE ISOFORM; MRLC2;; MYOSIN LIGHT CHAIN 11, REGULATORY; MYL11;; HSRLC
Asterisk 617379 MYOSIN XIX; MYO19 MYOSIN HEAD DOMAIN-CONTAINING PROTEIN 1; MYOHD1
Asterisk 617380 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 29; TIMM29 TIM29;; CHROMOSOME 19 OPEN READING FRAME 52; C19ORF52
Asterisk 617381 NUDIX HYDROLASE 16; NUDT16 NUDIX MOTIF 16
Asterisk 617382 START DOMAIN-CONTAINING PROTEIN 10; STARD10 NY-CO-28
Number Sign 617383 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2
Number Sign 617384 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4
Asterisk 617385 ATPase, H+ TRANSPORTING, LYSOSOMAL, 31-KD, V1 SUBUNIT E, ISOFORM 1; ATP6V1E2 VACUOLAR-TYPE PROTON-TRANSLOCATING ATPase SUBUNIT E1; ATP6E1; E1
NULL 617386 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 5, PSEUDOGENE; NR1H5P FARNESOID X-ACTIVATED RECEPTOR, BETA, PSEUDOGENE; FXRB
Asterisk 617387 GLUTAMINE-RICH PROTEIN 1; QRICH1
Number Sign 617388 AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK
Number Sign 617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53
Asterisk 617390 KIAA1958 GENE; KIAA1958
Number Sign 617391 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54
Number Sign 617392 ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13
Number Sign 617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM
Number Sign 617394 SCLEROSING CHOLANGITIS, NEONATAL; NSC
Number Sign 617395 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq; CDG2Q CDG IIq; CDGIIq
Number Sign 617396 ANAUXETIC DYSPLASIA 2; ANXD2
Number Sign 617397 PSEUDO-TORCH SYNDROME 2; PTORCH2
Asterisk 617398 FK506-BINDING PROTEIN 15; FKBP15 FK506-BINDING PROTEIN, 133-KD; FKBP133;; KIAA0674;; WASP- AND FKBP-LIKE PROTEIN; WAFL
Asterisk 617399 PEROXISOMAL MEMBRANE PROTEIN 2; PXMP2 PEROXISOMAL MEMBRANE PROTEIN, 22-KD; PMP22
Asterisk 617400 EPOXIDE HYDROLASE 3; EPHX3 ABHYDROLASE DOMAIN-CONTAINING PROTEIN 9; ABHD9;; EH3
Asterisk 617401 EPOXIDE HYDROLASE 4; EPHX4 ABHYDROLASE DOMAIN-CONTAINING PROTEIN 7; ABHD7;; EPOXIDE HYDROLASE-RELATED PROTEIN; EPHXRP;; EH4
Number Sign 617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C
Number Sign 617403 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D
Number Sign 617404 MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID
Number Sign 617405 SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY; SRTD17
Number Sign 617406 BARDET-BIEDL SYNDROME 21; BBS21
Asterisk 617407 POLYCOMB GROUP RING FINGER PROTEIN 5; PCGF5
Number Sign 617408 DIAMOND-BLACKFAN ANEMIA 16; DBA16
Number Sign 617409 DIAMOND-BLACKFAN ANEMIA 17; DBA17
Asterisk 617410 ZINC FINGER PROTEIN 419; ZNF419
Asterisk 617411 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; ARFGEF3 BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE EXCHANGE PROTEIN 3; BIG3;; KIAA1244
Number Sign 617412 BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD MACINNES SYNDROME; MCINS
Asterisk 617413 PRUNE EXOPOLYPHOSPHATASE 1; PRUNE1 PRUNE, DROSOPHILA, HOMOLOG OF; PRUNE;; DROSOPHILA-RELATED EXPRESSED SEQUENCE 17; DRES17
Asterisk 617414 RIBOSOMAL PROTEIN L14; RPL14 60S RIBOSOMAL PROTEIN 14
Asterisk 617415 RIBOSOMAL PROTEIN L31; RPL31 60S RIBOSOMAL PROTEIN 31
Asterisk 617416 RIBOSOMAL PROTEIN L3-LIKE; RPL3L 60S RIBOSOMAL PROTEIN L3-LIKE
Asterisk 617417 RIBOSOMAL PROTEIN L7-LIKE 1; RPL7L1 60S RIBOSOMAL PROTEIN L7-LIKE 1
Asterisk 617418 WD REPEAT-CONTAINING PROTEIN 59; WDR59 KIAA1923
Asterisk 617419 PROLYL 3-HYDROXYLASE 4; P3H4 SYNAPTONEMAL COMPLEX PROTEIN 65; SC65;; LEPRECAN-LIKE 4; LEPREL4
Asterisk 617420 CHROMOSOME 12 OPEN READING FRAME 66; C12ORF66
Asterisk 617421 INTEGRIN-ALPHA FG-GAP REPEAT-CONTAINING PROTEIN 2; ITFG2 FG-GAP REPEAT-CONTAINING PROTEIN 1; FGGAP1
Asterisk 617422 ACTIVITY-DEPENDENT NEUROPROTECTOR HOMEOBOX 2; ADNP2 ADNP HOMEOBOX 2;; KIAA0863
Asterisk 617423 PROLINE-RICH PROTEIN 14; PRR14
Asterisk 617424 WD REPEAT-CONTAINING PROTEIN 26; WDR26 GID COMPLEX, SUBUNIT 7; GID7;; GLUCOSE-INDUCED DEGRADATION-DEFICIENT PROTEIN 7, S. CEREVISIAE, HOMOLOG OF
Number Sign 617425 IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA
Asterisk 617426 CYSTEINE-RICH C-TERMINAL 1; CRCT1 NICE1;; CHROMOSOME 1 OPEN READING FRAME 42; C1ORF42
Asterisk 617427 S100 CALCIUM-BINDING PROTEIN A7A; S100A7A S100 CALCIUM-BINDING PROTEIN A15; S100A15;; S100 CALCIUM-BINDING PROTEIN A7-LIKE 1; S100A7L1;; NICE2
Asterisk 617428 CHROMOSOME 1 OPEN READING FRAME 43; C1ORF43 HEPATITIS C VIRUS NS5A-TRANSACTIVATED PROTEIN 4; NS5ATP4;; NICE3;; HSPC012
Asterisk 617429 UBIQUITIN-CONJUGATING ENZYME E2Q FAMILY MEMBER 1; UBE2Q1 GALACTOSYL TRANSFERASE-ASSOCIATED PROTEIN; GTAP;; NICE5
Asterisk 617430 ADHESION G PROTEIN-COUPLED RECEPTOR F1; ADGRF1 G PROTEIN-COUPLED RECEPTOR 110; GPR110
Asterisk 617431 UBIQUITIN-SPECIFIC PEPTIDASE 53; USP53 KIAA1350
Number Sign 617432 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60
Number Sign 617433 RETINITIS PIGMENTOSA 78; RP78
Asterisk 617434 LONG NONCODING RNA HOST2 HOST2
Number Sign 617435 LOPES-MACIEL-RODAN SYNDROME; LOMARS
Asterisk 617436 GON7, S. CEREVISIAE, HOMOLOG OF; GON7 CHROMOSOME 14 OPEN READING FRAME 142; C14ORF142
Asterisk 617437 S100 CALCIUM-BINDING PROTEIN A16; S100A16 AGING-ASSOCIATED GENE 13; AAG13
Asterisk 617438 CHROMOBOX HOMOLOG 6; CBX6
Number Sign 617439 CRANIOSYNOSTOSIS 7; CRS7 CRANIOSYNOSTOSIS 7, DIGENIC;; CRS7, DIGENIC
Asterisk 617440 PAPILLARY THYROID CARCINOMA SUSCEPTIBILITY CANDIDATE 1 GENE; PTCSC1 NONCODING RNA 197; NCRNA00197
Number Sign 617441 THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS; THAMY
Number Sign 617442 PREMATURE OVARIAN FAILURE 13; POF13
Number Sign 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21
Asterisk 617444 ZINC FINGER PROTEIN 479; ZNF479 KR19
Asterisk 617445 UBIQUITIN-SPECIFIC PEPTIDASE 48; USP48 UBIQUITIN-SPECIFIC PROTEASE 48;; UBIQUITIN-SPECIFIC PEPTIDASE 31, FORMERLY; USP31, FORMERLY;; UBIQUITIN-SPECIFIC PROTEASE 31, FORMERLY
Asterisk 617446 ChaC, E. COLI, HOMOLOG OF, 2; CHAC2 CATION TRANSPORT REGULATOR-LIKE PROTEIN 2
Asterisk 617447 PABP-DEPENDENT POLY(A) NUCLEASE 2; PAN2 PAN2 POLY(A)-SPECIFIC RIBONUCLEASE SUBUNIT;; UBIQUITIN-SPECIFIC PROTEASE 52: USP52;; KIAA0710
Asterisk 617448 PABP-DEPENDENT POLY(A) NUCLEASE 3; PAN3 PAN3 POLY(A)-SPECIFIC RIBONUCLEASE SUBUNIT
Asterisk 617449 TRANSMEMBRANE PROTEIN 260; TMEM260 CHROMOSOME 14 OPEN READING FRAME 101; C14ORF101
Number Sign 617450 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP
Asterisk 617451 ALDO-KETO REDUCTASE FAMILY 1, MEMBER E2; AKR1E2 HUMAN TESTIS-SPECIFIC PROTEIN; HTSP;; TESTIS ALDO-KETO REDUCTASE; TAKR
Number Sign 617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES; IDDFSDA
Asterisk 617453 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 26; TTC26 INTRAFLAGELLAR TRANSPORT 56, CHLAMYDOMONAS, HOMOLOG OF; IFT56
Asterisk 617454 POLYMERASE III, RNA, SUBUNIT C; POLR3C RNA POLYMERASE III, 62-KD SUBUNIT; RPC62;; RNA POLYMERASE III, SUBUNIT C3; RPC3;; DNA-DIRECTED RNA POLYMERASE III, SUBUNIT C
Asterisk 617455 POLYMERASE III, RNA, SUBUNIT F; POLR3F RNA POLYMERASE III, 39-KD SUBUNIT; RPC39;; RNA POLYMERASE III, SUBUNIT C6; RPC6;; DNA-DIRECTED RNA POLYMERASE III, SUBUNIT F
Asterisk 617456 POLYMERASE III, RNA, SUBUNIT G; POLR3G RNA POLYMERASE III, 32-KD SUBUNIT; RPC32;; RNA POLYMERASE III, 32-KD SUBUNIT, ALPHA;; RPC32-ALPHA;; RNA POLYMERASE III, SUBUNIT C7; RPC7;; DNA-DIRECTED RNA POLYMERASE III, SUBUNIT G
Asterisk 617457 POLYMERASE III, RNA, SUBUNIT G-LIKE; POLR3GL RNA POLYMERASE III, 32-KD SUBUNIT, BETA;; RPC32-BETA;; RNA POLYMERASE III, SUBUNIT C7-LIKE
Asterisk 617458 PRKR-INTERACTING PROTEIN 1, IL11-INDUCIBLE; PRKRIP1 C114
Asterisk 617459 TRANSMEMBRANE AND COILED-COIL DOMAIN FAMILY, MEMBER 3; TMCC3
Number Sign 617460 RETINITIS PIGMENTOSA 79; RP79
Asterisk 617461 YBEY METALLOPEPTIDASE; YBEY YbeY, E. COLI, HOMOLOG OF;; CHROMOSOME 21 OPEN READING FRAME 57; C21ORF57
Asterisk 617462 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR-RELATED PROTEIN 1; PPRC1 PGC1-RELATED COACTIVATOR; PRC;; KIAA0595
Asterisk 617463 UNKEMPT FAMILY-LIKE ZINC FINGER; UNKL ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 5-LIKE; ZC3HDC5L; ZC3H5L;; CHROMOSOME 16 OPEN READING FRAME 28; C16ORF28
Asterisk 617464 UNC5 FAMILY C-TERMINAL-LIKE PROTEIN; UNC5CL ZU5 AND DEATH DOMAINS-CONTAINING PROTEIN; ZUD
Asterisk 617465 SMALL INTEGRAL MEMBRANE PROTEIN 20; SMIM20 MITOCHONDRIAL TRANSLATION REGULATION ASSEMBLY INTERMEDIATE OF CYTOCHROME c OXIDASE 7; MITRAC7;; CHROMOSOME 4 OPEN READING FRAME 52; C4ORF52
Number Sign 617466 TOWNES-BROCKS SYNDROME 2; TBS2
Asterisk 617467 FERM DOMAIN-CONTAINING PROTEIN 4B; FRMD4B GRP1-SIGNALING PARTNER 1; GRSP1;; KIAA1013
Number Sign 617468 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY
Asterisk 617469 AFG1-LIKE ATPase; AFG1L ATPase FAMILY GENE 1, S. CEREVISIAE, HOMOLOG OF; AFG1;; LACTATION-ELEVATED GENE 1; LACE1
Asterisk 617470 UBIQUITIN-SPECIFIC PEPTIDASE-LIKE 1; USPL1 USP-LIKE 1
Asterisk 617471 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 12; SERPINA12 VISCERAL ADIPOSE-SPECIFIC SERPIN; VASPIN
Asterisk 617472 TENASCIN N; TNN
Asterisk 617473 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT G; ATP5L ATP5JG
Asterisk 617474 ZINC FINGER PROTEIN 609; ZNF609 KIAA0295
Number Sign 617475 SPECIFIC GRANULE DEFICIENCY 2; SGD2
Asterisk 617476 CNKSR FAMILY, MEMBER 3; CNKSR3 CONNECTOR ENHANCER OF KSR 3;; CNK, DROSOPHILA, HOMOLOG OF, 3; CNK3 INTERACTION PROTEIN FOR CYTOHESIN EXCHANGE FACTORS 1, INCLUDED; IPCEF1, INCLUDED; IPCEF, INCLUDED;; PIP3E, INCLUDED
Asterisk 617477 ZINC FINGER PROTEIN 324; ZNF324 ZF5128
Number Sign 617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME; SHDRA
Asterisk 617479 SSU2, C. ELEGANS, HOMOLOG OF; SSUH2 SSU2;; CHROMOSOME 3 OPEN READING FRAME 32; C3ORF32;; FLS485
Number Sign 617480 46,XX SEX REVERSAL 4; SRXX4 46,XX SEX REVERSAL, SRY-NEGATIVE
Number Sign 617481 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA
Asterisk 617482 TP53 TARGET GENE 3; TP53TG3
Asterisk 617483 CORNICHON FAMILY AMPA RECEPTOR AUXILIARY PROTEIN 4; CNIH4 CORNICHON, DROSOPHILA, HOMOLOG OF, 4; CNIH2
Asterisk 617484 GAMETOCYTE-SPECIFIC FACTOR 1; GTSF1 FAMILY WITH SEQUENCE SIMILARITY 112, MEMBER B; FAM112B
Asterisk 617485 WD REPEAT- AND FYVE DOMAIN-CONTAINING PROTEIN 3; WDFY3 AUTOPHAGY-LINKED FYVE PROTEIN; ALFY;; BLUE CHEESE, DROSOPHILA, HOMOLOG OF; BCHS
Asterisk 617486 G-PATCH DOMAIN-CONTAINING PROTEIN 3; GPATCH3
Asterisk 617487 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 14; DNAJB14
Asterisk 617488 RNA PSEUDOURIDYLATE SYNTHASE DOMAIN-CONTAINING PROTEIN 4; RPUSD4
Asterisk 617489 LONG INTERGENIC NONCODING RNA 305; LINC00305 lincRNA 305
Asterisk 617490 CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT DELTA; CATSPERD TRANSMEMBRANE PROTEIN 146; TMEM146
Asterisk 617491 NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 3; NSUN3 NOL1/NOP2/SUN DOMAIN FAMILY, MEMBER 3
Asterisk 617492 OLFACTOMEDIN 2; OLFM2 NOELIN 2; NOE2
Number Sign 617493 NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM
Asterisk 617494 ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 2; EML2 EMAP-LIKE 2;; EMAP-RELATED PROTEIN 2; EMAP2;; EMAP-LIKE PROTEIN, 70-KD; ELP70
Asterisk 617495 FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A1, CC MOTIF CHEMOKINE-LIKE; FAM19A1 TAFA1
Asterisk 617496 FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A2, CC MOTIF CHEMOKINE-LIKE; FAM19A2 TAFA2
Asterisk 617497 FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A3, CC MOTIF CHEMOKINE-LIKE; FAM19A3 TAFA3
Asterisk 617498 FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A4, CC MOTIF CHEMOKINE-LIKE; FAM19A4 TAFA4
Asterisk 617499 FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A5, CC MOTIF CHEMOKINE-LIKE; FAM19A5 TAFA5
Asterisk 617500 UROTHELIAL CANCER-ASSOCIATED GENE 1; UCA1 LONG INTERGENIC NONCODING RNA 178; LINC00178;; CUDR
Asterisk 617501 LYSINE ACETYLTRANSFERASE 14; KAT14 CRP2-BINDING PARTNER; CRP2BP; CSRP2BP;; ADA2A-CONTAINING COMPLEX SUBUNIT 2; ATAC2
Asterisk 617502 WD REPEAT-CONTAINING PROTEIN 41; WDR41
Asterisk 617503 DENN DOMAIN-CONTAINING PROTEIN 3; DENND3 DENN/MADD DOMAIN-CONTAINING PROTEIN 3;; KIAA0870
Asterisk 617504 SIPA1-LIKE PROTEIN 1; SIPA1L1 E6-TARGETED PROTEIN 1; E6TP1;; KIAA0440
Asterisk 617505 TRANSLOCATION-ASSOCIATED MEMBRANE PROTEIN 1-LIKE 1; TRAM1L1
Number Sign 617506 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2
Number Sign 617507 PEHO-LIKE SYNDROME; PEHOL PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY-LIKE SYNDROME
Asterisk 617508 ZINC FINGER PROTEIN 598; ZNF598
Asterisk 617509 VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 8; VWA8 KIAA0564
Asterisk 617510 CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT EPSILON; CATSPERE CHROMOSOME 1 OPEN READING FRAME 101; C1ORF101
Asterisk 617511 CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT ZETA; CATSPERZ TESTIS-EXPRESSED GENE 40; TEX40
Asterisk 617512 ZINC FINGER PROTEIN 318; ZNF318 TESTICULAR ZINC FINGER; TZF;; ZFP318
Asterisk 617513 OXOGLUTARATE DEHYDROGENASE-LIKE PROTEIN; OGDHL KIAA1290
Number Sign 617514 IMMUNODEFICIENCY 52; IMD52
Asterisk 617515 RHOMBOID DOMAIN-CONTAINING 1; RHBDD1 RHOMBOID-RELATED PROTEIN 4; RRP4;; RHOMBOID-LIKE PROTEIN 4; RHBDL4
Number Sign 617516 STANKIEWICZ-ISIDOR SYNDROME; STISS
Asterisk 617517 RIBOSOMAL PROTEIN S6 KINASE C1; RPS6KC1 RIBOSOMAL PROTEIN S6 KINASE-LIKE PROTEIN WITH 2 PSK DOMAINS, 118-KD; RPK118
Asterisk 617518 BSD DOMAIN-CONTAINING PROTEIN 1; BSDC1
Number Sign 617519 MYOPATHY, CONGENITAL, WITH NEUROPATHY AND DEAFNESS; CMND
Number Sign 617520 MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT; MCPH18
Asterisk 617521 YIP1 DOMAIN FAMILY, MEMBER 1; YIPF1
Asterisk 617522 YIP1 DOMAIN FAMILY, MEMBER 2; YIPF2
Number Sign 617523 NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS; NEDMHM
Number Sign 617524 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2; EKVP2
Number Sign 617525 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3
Number Sign 617526 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4; EKVP4
Number Sign 617527 NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES; NDMSBA
Asterisk 617528 PROTEASOME ASSEMBLY CHAPERONE 3; PSMG3 PAC3
Asterisk 617529 FAST KINASE DOMAINS 1; FASTKD1 FAST KINASE DOMAIN-CONTAINING PROTEIN 1;; KIAA1800
Asterisk 617530 FAST KINASE DOMAINS 3; FASTKD3 FAST KINASE DOMAIN-CONTAINING PROTEIN 3
Asterisk 617531 COLLAGEN BETA(1-O)GALACTOSYLTRANSFERASE 1; COLGALT1 GLYCOSYLTRANSFERASE 25 FAMILY, MEMBER 1; GLT25D1;; HYDROXYLYSINE GALACTOSYLTRANSFERASE 1
Number Sign 617532 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF
Asterisk 617533 COLLAGEN BETA(1-O)GALACTOSYLTRANSFERASE 2; COLGALT2 GLYCOSYLTRANSFERASE 25 FAMILY, MEMBER 2; GLT25D2;; HYDROXYLYSINE GALACTOSYLTRANSFERASE 2;; KIAA0584
Asterisk 617534 YIP1 DOMAIN FAMILY, MEMBER 4; YIPF4
Asterisk 617535 FAS APOPTOTIC INHIBITORY MOLECULE; FAIM FAIM1
Asterisk 617536 BAI1-ASSOCIATED PROTEIN 2-LIKE 2; BAIAP2L2 PLANAR INTESTINE- AND KIDNEY-SPECIFIC BAR DOMAIN PROTEIN; PINKBAR
Number Sign 617537 RAHMAN SYNDROME; RMNS
Asterisk 617538 ELONGATION FACTOR-LIKE GTPase 1; EFL1 RIBOSOME ASSEMBLY 1 HOMOLOG; RIA1;; ELONGATION FACTOR Tu GTP-BINDING DOMAIN-CONTAINING 1; EFTUD1;; FAM42A
Asterisk 617539 CHLORIDE CHANNEL CLIC-LIKE 1; CLCC1 MID1-RELATED CHLORIDE CHANNEL 1; MCLC
Number Sign 617540 PITUITARY ADENOMA 5, MULTIPLE TYPES; PITA5
Asterisk 617541 ANKYRIN REPEAT- AND ZINC FINGER DOMAIN-CONTAINING 1; ANKZF1 ZINC FINGER PROTEIN 744; ZNF744
Number Sign 617542 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2
Asterisk 617543 POLYCOMB GROUP RING FINGER PROTEIN 3; PCGF3 RING FINGER PROTEIN 3; RNF3;; RNF3A
Asterisk 617544 LONG INTERGENIC NONCODING RNA 672; LINC00672 lincRNA 672
Asterisk 617545 MINICHROMOSOME MAINTENANCE DOMAIN-CONTAINING PROTEIN 2; MCMDC2 MCM DOMAIN-CONTAINING PROTEIN 2;; CHROMOSOME 8 OPEN READING FRAME 45; C8ORF45
Asterisk 617546 HELT BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR; HELT HEY-LIKE TRANSCRIPTION FACTOR;; HES-LIKE TRANSCRIPTION FACTOR; HESLIKE; HESL;; MEGANE BASIC HELIX-LOOP-HELIX FACTOR; MGN
Number Sign 617547 RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS
Asterisk 617548 WAP 4-DISULFIDE CORE DOMAIN 2; WFDC2 HUMAN EPIDIDYMIS PROTEIN 4; HE4;; WAP5
Asterisk 617549 TUMOR PROTEIN p53-INDUCIBLE NUCLEAR PROTEIN 2; TP53INP2 TP53-INDUCIBLE PROTEIN U; PIGU;; DIABETES- AND OBESITY-REGULATED GENE; DOR;; CHROMOSOME 20 OPEN READING FRAME 110; C20ORF110
Asterisk 617550 PROTEASOME ASSEMBLY CHAPERONE 4; PSMG4 PAC4;; CHROMOSOME 6 OPEN READING FRAME 86; C6ORF86
Asterisk 617551 SID1 TRANSMEMBRANE FAMILY, MEMBER 2; SIDT2
Asterisk 617552 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 26; ARHGEF26 SH3 DOMAIN-CONTAINING GUANINE NUCLEOTIDE EXCHANGE FACTOR; SGEF
Asterisk 617553 Fc FRAGMENT OF IgG-BINDING PROTEIN; FCGBP FC-GAMMA-BP
Asterisk 617554 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 3; FGD3 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 5; ZFYVE5
Asterisk 617555 FCH AND DOUBLE SH3 DOMAINS PROTEIN 1; FCHSD1 NERVOUS WRECK, DROSOPHILA, HOMOLOG OF, 2; NWK2
Asterisk 617556 FCH AND DOUBLE SH3 DOMAINS PROTEIN 2; FCHSD2 NERVOUS WRECK, DROSOPHILA, HOMOLOG OF; NWK;; KIAA0769
Number Sign 617557 GABRIELE-DE VRIES SYNDROME; GADEVS
Asterisk 617558 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 43; CFAP43 WD REPEAT-CONTAINING PROTEIN 96; WDR96;; CHROMOSOME 10 OPEN READING FRAME 79; C10ORF79
Asterisk 617559 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 44; CFAP44 WD REPEAT-CONTAINING PROTEIN 52; WDR52
Number Sign 617560 SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8
Number Sign 617561 COHEN-GIBSON SYNDROME; COGIS
Number Sign 617562 MECKEL SYNDROME 13; MKS13 JOUBERT SYNDROME 29, INCLUDED; JBTS29, INCLUDED
Number Sign 617563 OROFACIODIGITAL SYNDROME XVI; OFD16 OFDS XVI;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI
Number Sign 617564 MEIER-GORLIN SYNDROME 8; MGORS8
Number Sign 617565 PERRAULT SYNDROME 6; PRLTS6
Asterisk 617566 ZINC FINGER PROTEIN 568; ZNF568 ZFP568
Asterisk 617567 TUMOR PROTEIN D52-LIKE 3; TPD52L3 D55
Asterisk 617568 UPSTREAM TRANSCRIPTION FACTOR FAMILY, MEMBER 3; USF3
Asterisk 617569 KINESIN FAMILY, MEMBER 15; KIF15 KINESIN-LIKE PROTEIN 2; KLP2;; KINESIN-LIKE 7; KNSL7;; NY-BR-62
Asterisk 617570 DAZ-INTERACTING ZINC FINGER PROTEIN 1-LIKE; DZIP1L DZIP1-LIKE;; DAZ-INTERACTING ZINC FINGER PROTEIN 2; DZIP2
Number Sign 617571 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14; ARCI14
Number Sign 617572 EXUDATIVE VITREORETINOPATHY 7; EVR7
Asterisk 617573 C-TYPE LECTIN DOMAIN FAMILY 12, MEMBER B; CLEC12B MACROPHAGE ANTIGEN H
Number Sign 617574 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13; ARCI13
Number Sign 617575 NEPHROTIC SYNDROME 14; NPHS14
Number Sign 617576 SPERMATOGENIC FAILURE 18; SPGF18
Number Sign 617577 CILIARY DYSKINESIA, PRIMARY, 37; CILD37 CILIARY DYSKINESIA, PRIMARY, 37, WITH OR WITHOUT SITUS INVERSUS
Asterisk 617578 FER3, DROSOPHILA, HOMOLOG OF; FERD3L NEURONAL TWIST; NTWIST;; NEPHEW OF ATONAL 3; NATO3;; BASIC HELIX-LOOP-HELIX FAMILY, MEMBER A31; BHLHA31;; PANCREAS-SPECIFIC TRANSCRIPTION FACTOR B; PTFB
Asterisk 617579 CLAUDIN 10; CLDN10 OLIGODENDROCYTE-SPECIFIC PROTEIN-LIKE; OSPL;; CLOSTRIDIUM PERFRINGENS ENTEROTOXIN RECEPTOR-LIKE 3; CPETRL3
Asterisk 617580 TETRASPANIN 16; TSPAN16 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 16; TM4SF16;; TM4B
Asterisk 617581 C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 2; C2CD2 TRANSMEMBRANE PROTEIN 24-LIKE; TMEM24L;; CHROMOSOME 21 OPEN READING FRAME 25; C21ORF25;; CHROMOSOME 21 OPEN READING FRAME 258; C21ORF258
Asterisk 617582 C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 2-LIKE; C2CD2L C2CD2-LIKE;; TRANSMEMBRANE PROTEIN 24; TMEM24
Asterisk 617583 SULFIREDOXIN 1; SRXN1 SRX;; SRX1
Number Sign 617584 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25
Number Sign 617585 IMMUNODEFICIENCY 53; IMD53
Asterisk 617586 FERM, ARHGEF, AND PLECKSTRIN DOMAINS-CONTAINING PROTEIN 2; FARP2 FGD1-RELATED CDC42 GUANINE NUCLEOTIDE EXCHANGE FACTOR; FRG;; PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY C, MEMBER 3; PLEKHC3;; FERM DOMAIN-INCLUDING RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR; FIR;; KIAA0793
Asterisk 617587 SMALL PROLINE-RICH PROTEIN 2D; SPRR2D
Asterisk 617588 SMALL PROLINE-RICH PROTEIN 2E; SPRR2E
Asterisk 617589 SMALL PROLINE-RICH PROTEIN 2F; SPRR2F
Asterisk 617590 SMALL PROLINE-RICH PROTEIN 2G; SPRR2G
Number Sign 617592 SPERMATOGENIC FAILURE 19; SPGF19
Number Sign 617593 SPERMATOGENIC FAILURE 20; SPGF20
Asterisk 617594 CHROMOSOME 11 OPEN READING FRAME 63; C11ORF63 JHY, MOUSE, HOMOLOG OF; JHY
Number Sign 617595 BIRK-LANDAU-PEREZ SYNDROME; BILAPES
Number Sign 617596 MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID MAAI DEFICIENCY;; HYPERSUCCINYLACETONEMIA, MILD; MHSA;; BENIGN HYPERSUCCINYLACETONEMIA; BHSA
Asterisk 617597 RETINOL SATURASE; RETSAT
Number Sign 617598 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3; MVA3
Number Sign 617599 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55; EIEE55 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 14; GPIBD14
Number Sign 617600 MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45
Number Sign 617601 MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46
Number Sign 617602 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM
Asterisk 617603 RNA-BINDING MOTIF PROTEIN 24; RBM24 RNA-BINDING REGION-CONTAINING PROTEIN 6; RNPC6
Number Sign 617604 MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA
Number Sign 617605 DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71
Number Sign 617606 DEAFNESS, AUTOSOMAL DOMINANT 72; DFNA72
Number Sign 617607 AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B
Asterisk 617608 ALPHA KINASE 3; ALPK3 MYOCYTE INDUCTION/DIFFERENTIATION ORIGINATOR; MIDORI;; MUSCLE ALPHA KINASE; MAK;; KIAA1330
Number Sign 617609 NEPHROTIC SYNDROME 15; NPHS15
Number Sign 617610 POLYCYSTIC KIDNEY DISEASE 5; PKD5
Asterisk 617611 PICALM-INTERACTING MITOTIC REGULATOR; PIMREG REGULATOR OF CHROMOSOME SEGREGATION 1; RCS1;; FAMILY WITH SEQUENCE SIMILARITY 64, MEMBER A; FAM64A
Asterisk 617612 ARMADILLO REPEAT-CONTAINING PROTEIN 9; ARMC9 KIAA1868
Number Sign 617613 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5
Asterisk 617614 SPOUT DOMAIN-CONTAINING METHYLTRANSFERASE 1; SPOUT1 CENTROMERE PROTEIN 32; CENP32;; CHROMOSOME 9 OPEN READING FRAME 114; C9ORF114
Asterisk 617615 TRANSMEMBRANE PROTEIN 258; TMEM258 CHROMOSOME 11 OPEN READING FRAME 10; C11ORF10
Number Sign 617616 SKRABAN-DEARDORFF SYNDROME; SKDEAS INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES
Asterisk 617617 SPRY4 INTRONIC TRANSCRIPT 1, NONCODING; SPRY4IT1 LONG NONCODING RNA SPRY4IT1;; lncRNA SPRY4IT1;; SPRIGHTLY
Asterisk 617618 TOG ARRAY REGULATOR OF AXONEMAL MICROTUBULES 1; TOGARAM1 FAMILY WITH SEQUENCE SIMILARITY 179, MEMBER B; FAM179B;; CRESCERIN 1;; KIAA0423
Asterisk 617619 MISATO 1, MITOCHONDRIAL DISTRIBUTION AND MORPHOLOGY REGULATOR; MSTO1 MISATO, DROSOPHILA, HOMOLOG OF
Asterisk 617620 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 3; LRRC3 CHROMOSOME 21 OPEN READING FRAME 102; C21ORF102;; CHROMOSOME 21 OPEN READING FRAME 30; C21ORF30
Asterisk 617621 PAX3- AND PAX7-BINDING PROTEIN 1; PAXBP1 PAX3/7BP;; GC-RICH SEQUENCE DNA-BINDING FACTOR 1; GCFC1;; GCFC;; CHROMOSOME 21 OPEN READING FRAME 66; C21ORF66
Number Sign 617622 JOUBERT SYNDROME 30; JBTS30
Asterisk 617623 SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER E1; SPDYE1 SPDYE;; SPEEDY B2-LIKE 2; SPDYB2L2;; RAPID INDUCER OF G2/M PROGRESSION IN OOCYTES 1; RINGO1;; WBSCR19
Asterisk 617624 SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER E2; SPDYE2 SPEEDY B2-LIKE 1; SPDYB2L1
Asterisk 617625 SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER E3; SPDYE3 SPEEDY B2; SPDYB2
Number Sign 617626 FIBROMATOSIS, GINGIVAL, 5; GINGF5 GGF5;; FIBROMATOSIS, GINGIVAL, HEREDITARY, 5; HGF5
Asterisk 617627 SMALL REGULATORY POLYPEPTIDE OF AMINO ACID RESPONSE; SPAAR SPAR;; LONG INTERGENIC NONCODING RNA 961; LINC00961;; lincRNA 961
Asterisk 617628 SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER E4; SPDYE4 SPEEDY B1
Number Sign 617629 SCHIZOPHRENIA 19; SCZD19 SCHIZOPHRENIA 19 WITH OR WITHOUT AN AFFECTIVE DISORDER
Asterisk 617630 G PROTEIN-COUPLED RECEPTOR 37-LIKE 1; GPR37L1 ENDOTHELIN TYPE B RECEPTOR-LIKE PROTEIN 2; ETBRLP2
Asterisk 617631 IQ DOMAIN-CONTAINING PROTEIN E; IQCE KIAA1023
Asterisk 617632 EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 7; EFCAB7 KIAA1799
Number Sign 617633 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26; SCAR26
Asterisk 617634 COILED-COIL GLUTAMATE-RICH PROTEIN 2; CCER2
Number Sign 617635 MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47
Asterisk 617636 GPR1 ANTISENSE RNA; GPR1AS G PROTEIN-COUPLED RECEPTOR 1, ANTISENSE RNA
Number Sign 617637 DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106
Number Sign 617638 IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B ATOPIC DERMATITIS, ELEVATED IgE, AND EOSINOPHILIA
Number Sign 617639 DEAFNESS, AUTOSOMAL RECESSIVE 107; DFNB107
Asterisk 617640 SUPPRESSOR OF TUMORIGENICITY 7-LIKE PROTEIN; ST7L ST7-RELATED PROTEIN; ST7R
Number Sign 617641 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED
Number Sign 617642 POLYDACTYLY, POSTAXIAL, TYPE A7; PAPA7
Number Sign 617643 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES; CADEDS
Number Sign 617644 SPERMATOGENIC FAILURE 21; SPGF21
Asterisk 617645 KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 4; KBTBD4 HEMATOPOIETIC STEM/PROGENITOR CELL-EXPRESSED GENE 252; HSPC252;; BKLHD4
Asterisk 617646 BAH DOMAIN- AND COILED-COIL DOMAIN-CONTAINING PROTEIN 1; BAHCC1 BROMO ADJACENT HOMOLOGY DOMAIN-CONTAINING PROTEIN 2; BAHD2;; KIAA1447
Asterisk 617647 PROSTATE CANCER-ASSOCIATED TRANSCRIPT 18, NONCODING; PCAT18 LONG INTERGENIC NONCODING RNA 1092; LINC01092;; lincRNA 1092
Asterisk 617648 BMP2-INDUCIBLE KINASE; BMP2K BIKE
Asterisk 617649 UBIQUITIN-CONJUGATING ENZYME E2O; UBE2O UBIQUITIN-CONJUGATING ENZYME E2, 230-KD; UBE2-230K;; KIAA1734
Asterisk 617650 PTGS2 ANTISENSE NFKB1 COMPLEX-MEDIATED EXPRESSION REGULATOR RNA, NONCODING; PACERR LONG NONCODING RNA PACERR;; lnRNA PACERR;; p50-ASSOCIATED COX2 EXTRAGENIC RNA; PACER;; PTGS2 ANTISENSE RNA 1; PTGS2AS1
Asterisk 617651 EQTN, MOB3B, IFNK, AND C9ORF72 ENHANCER RNA I, NONCODING EMICERI; EMICER1;; LONG NONCODING RNA EMICERI;; lncRNA EMICERI
Asterisk 617652 MOB KINASE ACTIVATOR 3B; MOB3B MOB1 DOMAIN-CONTAINING PROTEIN; MOB1D;; MOB KINASE ACTIVATOR-LIKE 2B; MOBKL2B;; CHROMOSOME 9 OPEN READING FRAME 35; C9ORF35
Asterisk 617653 EQUATORIN; EQTN ACROSOME FORMATION-ASSOCIATED FACTOR; AFAF;; SPERM ACROSOME-ASSOCIATED PROTEIN 8; SPACA8;; CHROMOSOME 9 OPEN READING FRAME 11; C9ORF11
Number Sign 617654 DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108
Asterisk 617655 PECANEX, DROSOPHILA, HOMOLOG OF, 1; PCNX1 KIAA0805;; KIAA0995
Asterisk 617656 PECANEX, DROSOPHILA, HOMOLOG OF, 2; PCNX2 KIAA0435
Asterisk 617657 PECANEX, DROSOPHILA, HOMOLOG OF, 3; PCNX3
Asterisk 617658 SULFIDE QUINONE OXIDOREDUCTASE; SQOR SULFIDE DEHYDROGENASE-LIKE; SQRDL;; SQR
Asterisk 617659 LIPOYL(OCTANOYL) TRANSFERASE 2; LIPT2
Number Sign 617660 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 CONGENITAL NAD DEFICIENCY DISORDER 1;; 3-HYDROXYANTHRANILIC ACIDEMIA
Number Sign 617661 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2 CONGENITAL NAD DEFICIENCY DISORDER 2;; KYNURENINASE DEFICIENCY, COMPLETE
Number Sign 617662 JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM
Number Sign 617663 DEAFNESS, AUTOSOMAL DOMINANT 73; DFNA73
Number Sign 617664 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32
Number Sign 617665 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56
Number Sign 617666 FRASER SYNDROME 2; FRASRS2
Number Sign 617667 FRASER SYNDROME 3; FRASRS3
Number Sign 617668 ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA LIPOYLTRANSFERASE 2 DEFICIENCY; LIPT2D
Number Sign 617669 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY; PEBAS
Asterisk 617670 MEIOSIS-SPECIFIC PROTEIN WITH OB DOMAINS; MEIOB
Number Sign 617671 HELIX SYNDROME; HELIX HYPOHIDROSIS, ELECTROLYTE IMBALANCE, LACRIMAL GLAND DYSFUNCTION, ICHTHYOSIS, AND XEROSTOMIA
Number Sign 617672 NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY; CONDBA
Asterisk 617673 SPERMATOGENESIS-ASSOCIATED PROTEIN 22; SPATA22
Asterisk 617674 STRESS-ASSOCIATED ENDOPLASMIC RETICULUM PROTEIN 1; SERP1 RIBOSOME-ASSOCIATED MEMBRANE PROTEIN 4; RAMP4
Number Sign 617675 MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT
Asterisk 617676 PROTEASOME 26S SUBUNIT, NON-ATPase, 3; PSMD3 PROTEASE 26S, SUBUNIT 3; S3;; p58;; RPN3
Asterisk 617677 ZO2-ASSOCIATED SPECKLE PROTEIN ZASP
Asterisk 617678 PROSTATE CANCER-ASSOCIATED TRANSCRIPT 2, NONCODING; PCAT2 PCA2;; CANCER-ASSOCIATED REGION LONG NONCODING RNA 4; CARLO4;; lncRNA CARLO4
Asterisk 617679 KELCH-LIKE 20; KLHL20 KELCH-LIKE ECT2-INTERACTING PROTEIN; KLEIP;; KELCH-LIKE PROTEIN X; KLHLX
Asterisk 617680 SSU72, S. CEREVISIAE, HOMOLOG OF; SSU72 RNA POLYMERASE II CTD PHOSPHATASE SSU72
Number Sign 617681 BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2
Number Sign 617682 PILAROWSKI-BJORNSSON SYNDROME; PILBOS DEVELOPMENTAL DELAY AND SPEECH APRAXIA WITH OR WITHOUT SEIZURES
Asterisk 617683 EGF-LIKE, FIBRONECTIN TYPE III, AND LAMININ G DOMAINS-CONTAINING PROTEIN; EGFLAM PIKACHURIN; PIKA;; AGRIN-LIKE PROTEIN; AGRNL; AGRINL
Asterisk 617684 Ly1 ANTIBODY-REACTIVE PROTEIN, MOUSE, HOMOLOG OF; LYAR
Asterisk 617685 CADHERIN 26; CDH26
Number Sign 617686 PITUITARY ADENOMA 3, MULTIPLE TYPES; PITA3
Asterisk 617687 TBC1 DOMAIN FAMILY, MEMBER 23; TBC1D23
Asterisk 617688 PROSTATE ANDROGEN-REGULATED MUCIN-LIKE PROTEIN 1; PARM1 PROSTATIC ANDROGEN-REPRESSED MESSAGE 1;; CASTRATION-INDUCED PROSTATIC APOPTOSIS-RELATED PROTEIN 1; CIPAR1
Asterisk 617689 COLD-SHOCK DOMAIN-CONTAINING PROTEIN C2; CSDC2 PIPPIN
Number Sign 617690 OVARIAN DYSGENESIS 5; ODG5
Number Sign 617691 SPINOCEREBELLAR ATAXIA 44; SCA44
Asterisk 617692 PR DOMAIN-CONTAINING PROTEIN 15; PRDM15 PR/SET DOMAIN PROTEIN 15;; ZINC FINGER PROTEIN 298; ZNF298
Asterisk 617693 VITRIN; VIT VIT1
Number Sign 617694 AL KAISSI SYNDROME; ALKAS GROWTH RETARDATION, SPINE MALFORMATION, DYSMORPHIC FACIES, AND DEVELOPMENTAL DELAY
Number Sign 617695 PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11
Asterisk 617696 LONG INTERGENIC NONCODING RNA 1488; LINC01488 lincRNA 1488;; CCND1 UPSTREAM INTERGENIC DNA REPAIR 1, NONCODING; CUPID1;; BREAST CANCER-ASSOCIATED TRANSCRIPT 8; BRCAT8
Asterisk 617697 CCND1 UPSTREAM INTERGENIC DNA REPAIR 2, NONCODING LONG INTERGENIC NONCODING RNA CUPID2; CUPID2;; lincRNA CUPID2
Number Sign 617698 3-METHYLGLUTACONIC ACIDURIA, TYPE IX; MGCA9
Asterisk 617699 GID COMPLEX, SUBUNIT 4; GID4 GLUCOSE-INDUCED DEGRADATION-DEFICIENT PROTEIN 4, S. CEREVISIAE, HOMOLOG OF;; VACUOLAR IMPORT AND DEGRADATION PROTEIN 24; VID24;; CHROMOSOME 17 OPEN READING FRAME 39; C17ORF39
Asterisk 617700 UBIQUITIN-CONJUGATING ENZYME E2F; UBE2F NEDD8-CONJUGATING ENZYME 2; NCE2
Asterisk 617701 CANCER SUSCEPTIBILITY CANDIDATE 8, NONCODING; CASC8 LONG INTERGENIC NONCODING RNA 860; LINC00860;; lincRNA 860;; CANCER-ASSOCIATED REGION LONG NONCODING RNA 1; CARLO1
Asterisk 617702 CANCER SUSCEPTIBILITY CANDIDATE 21, NONCODING; CASC21 LONG INTERGENIC NONCODING RNA 1244; LINC01244;; lincRNA 1244;; CANCER-ASSOCIATED REGION LONG NONCODING RNA 2; CARLO2
Asterisk 617703 CANCER SUSCEPTIBILITY CANDIDATE 19, NONCODING; CASC19 LONG INTERGENIC NONCODING RNA 1245; LINC01245;; lincRNA 1245;; CANCER-ASSOCIATED REGION LONG NONCODING RNA 6; CARLO6
Asterisk 617704 CANCER SUSCEPTIBILITY CANDIDATE 11, NONCODING; CASC11 LONG INTERGENIC NONCODING RNA 990; LINC00990;; lincRNA 990;; CANCER-ASSOCIATED REGION LONG NONCODING RNA 7; CARLO7
Asterisk 617705 COLON CANCER-ASSOCIATED TRANSCRIPT 1, NONCODING; CCAT1 CANCER-ASSOCIATED REGION LONG NONCODING RNA 5; CARLO5;; lncRNA CARLO5
Number Sign 617706 SPERMATOGENIC FAILURE 22; SPGF22
Number Sign 617707 SPERMATOGENIC FAILURE 23; SPGF23
Asterisk 617708 CELL DIVISION CYCLE 123; CDC123 D123
Number Sign 617709 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES; NEDMAS
Number Sign 617710 NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS
Number Sign 617711 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1
Number Sign 617712 OOCYTE MATURATION DEFECT 3; OOMD3
Number Sign 617713 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33
Asterisk 617714 CAVEOLAE-ASSOCIATED PROTEIN 4; CAVIN4 MUSCLE-RESTRICTED COILED-COIL PROTEIN; MURC
Asterisk 617715 MAM AND LDL RECEPTOR CLASS A DOMAIN-CONTAINING PROTEIN 1; MALRD1 CHROMOSOME 10 OPEN READING FRAME 112; C10ORF112;; DIET1
Asterisk 617716 RHO GTPase-ACTIVATING PROTEIN 44; ARHGAP44 RHOGAP INTERACTING WITH CIP4 HOMOLOGS 2; RICH2;; RHO-TYPE GTPase-ACTIVATING PROTEIN 2;; KIAA0672
Number Sign 617717 AUDITORY NEUROPATHY AND OPTIC ATROPHY; ANOA
Number Sign 617718 PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID
Number Sign 617719 EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7
Asterisk 617720 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 42; PPP1R42 TESTIS LEUCINE-RICH REPEAT PROTEIN; TLRR;; LEUCINE-RICH REPEAT-CONTAINING PROTEIN 67; LRRC67
Number Sign 617721 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX; HMN9 NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IX; DHMN9
Asterisk 617722 THIOREDOXIN-LIKE 4B; TXNL4B DIM1-LIKE PROTEIN; DLP;; DIM2
Asterisk 617723 RIBOSOMAL RNA-PROCESSING PROTEIN 12, S. CEREVISIAE, HOMOLOG OF; RRP12 KIAA0690
Asterisk 617724 TSC22 DOMAIN FAMILY, MEMBER 2; TSC22D2 KIAA0669
Asterisk 617725 FUCOSE MUTAROTASE; FUOM FUCM;; FucU, E. COLI, HOMOLOG OF; FUCU
Asterisk 617726 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 19; CARD19 BCL10-INTERACTING CARD PROTEIN; BINCARD;; CHROMOSOME 9 OPEN READING FRAME 89; C9ORF89
Asterisk 617727 TRANSMEMBRANE 9 SUPERFAMILY, MEMBER 4; TM9SF4 KIAA0255;; PHG1A, DICTYOSTELIUM, HOMOLOG OF
Asterisk 617728 CENTROSOMAL PROTEIN, 295-KD; CEP295 KIAA1731
Number Sign 617729 GALLOWAY-MOWAT SYNDROME 3; GAMOS3
Number Sign 617730 GALLOWAY-MOWAT SYNDROME 4; GAMOS4
Number Sign 617731 GALLOWAY-MOWAT SYNDROME 5; GAMOS5
Number Sign 617732 FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION; FPVEPD
Asterisk 617733 ZINC FINGER PROTEIN 518A; ZNF518A KIAA0335
Asterisk 617734 ZINC FINGER PROTEIN 518B; ZNF518B KIAA1729
Asterisk 617735 CHROMOSOME 10 OPEN READING FRAME 90; C10ORF90 FRAGILE SITE-ASSOCIATED TUMOR SUPPRESSOR; FATS
Asterisk 617736 MORN REPEAT-CONTAINING PROTEIN 4; MORN4 MEMBRANE OCCUPATION AND RECOGNITION NEXUS PROTEIN 4;; RETINOPHILIN, DROSOPHILA, HOMOLOG OF; RTP;; UNDERTAKER, DROSOPHILA, HOMOLOG OF; UTA
Asterisk 617737 SPHINGOMYELIN PHOSPHODIESTERASE, ACID-LIKE, 3B; SMPDL3B ACID SPHINGOMYELINASE-LIKE PHOSPHODIESTERASE 3B; ASML3B;; ASMLPD
Asterisk 617738 KELCH REPEAT- AND BTB DOMAIN-CONTAINING PROTEIN 6; KBTBD6
Asterisk 617739 KELCH REPEAT- AND BTB DOMAIN-CONTAINING PROTEIN 7; KBTBD7
Asterisk 617740 V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 10-LIKE; VSIG10L VSIG10-LIKE PROTEIN
Asterisk 617741 WD REPEAT-CONTAINING PROTEIN 20; WDR20
Asterisk 617742 KAT8 REGULATORY NSL COMPLEX, SUBUNIT 3; KANSL3 NONSPECIFIC LETHAL 3 HOMOLOG; NSL3;; KIAA1310
Number Sign 617743 OOCYTE MATURATION DEFECT 4; OOMD4
Number Sign 617744 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH
Asterisk 617745 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 12; MFSD12 PP3501
Number Sign 617746 SWEENEY-COX SYNDROME; SWCOS
Asterisk 617747 NUCLEAR BODY PROTEIN SP140-LIKE; SP140L
Asterisk 617748 TUDOR DOMAIN-CONTAINING PROTEIN 5; TDRD5 TUDOR3
Number Sign 617749 ACTN3 DEFICIENCY ALPHA-ACTININ-3 DEFICIENCY SPRINTING PERFORMANCE, INCLUDED
Asterisk 617750 LIM AND CALPONIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 1; LIMCH1 LIMCH1A;; LMO7B
Number Sign 617751 MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48
Number Sign 617752 MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49
Asterisk 617753 RIO KINASE 1; RIOK1 RIO1
Asterisk 617754 RIO KINASE 2; RIOK2 RIO2
Number Sign 617755 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL
Number Sign 617756 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5; EKVP5
Number Sign 617757 JOUBERT SYNDROME 32; JBTS32
Asterisk 617758 ZINC FINGER PROTEIN 692; ZNF692 ZFP692;; AICAR-RESPONSIVE ELEMENT-BINDING PROTEIN; AREBP
Asterisk 617759 RNA PSEUDOURIDYLATE SYNTHASE DOMAIN-CONTAINING PROTEIN 3; RPUSD3
Number Sign 617760 MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6
Number Sign 617761 JOUBERT SYNDROME 31; JBTS31
Number Sign 617762 LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET; PLDECO
Number Sign 617763 SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF
Asterisk 617764 ZYG11-RELATED CELL CYCLE REGULATOR; ZER1 ZER1, C. ELEGANS, HOMOLOG OF;; ZYG11B-LIKE PROTEIN; ZYG11BL;; ZYG;; CHROMOSOME 9 OPEN READING FRAME 60; C9ORF60
Number Sign 617765 IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14
Asterisk 617766 FAMILY WITH SEQUENCE SIMILARITY 192, MEMBER A; FAM192A NEFA-INTERACTING NUCLEAR PROTEIN 30; NIP30;; CHROMOSOME 16 OPEN READING FRAME 94; C16ORF94
Number Sign 617767 JOUBERT SYNDROME 33; JBTS33
Number Sign 617768 KLEEFSTRA SYNDROME 2; KLEFS2
Number Sign 617769 SPINOCEREBELLAR ATAXIA 45; SCA45
Number Sign 617770 SPINOCEREBELLAR ATAXIA 46; SCA46 SPINOCEREBELLAR ATAXIA, 46, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHY
Number Sign 617771 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57; EIEE57
Number Sign 617772 DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION; DFNA34
Number Sign 617773 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 ALWADEI SYNDROME
Asterisk 617774 LON PEPTIDASE 2, PEROXISOMAL; LONP2 PEROXISOMAL LON PROTEASE; PLON;; LON PROTEASE 2;; PSLON
Asterisk 617775 CHROMOSOME 10 OPEN READING FRAME 99; C10ORF99 COLON-DERIVED SUSD2-BINDING FACTOR; CSBF;; ANTIMICROBIAL PEPTIDE OF 57 AMINO ACIDS; AP57
Asterisk 617776 BAGE FAMILY, MEMBER 2; BAGE2 B MELANOMA ANTIGEN 2
Asterisk 617777 BAGE FAMILY, MEMBER 3; BAGE3 B MELANOMA ANTIGEN 3
Asterisk 617778 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 15; TXNDC15 CHROMOSOME 5 OPEN READING FAME 14; C5ORF14;; BUNKER GEAR, DROSOPHILA, HOMOLOG OF; BUG
Asterisk 617779 TRANSMEMBRANE PROTEIN 256; TMEM256 CHROMOSOME 17 OPEN READING FRAME 61; C17ORF61
Number Sign 617780 COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1 DEFICIENCY
Number Sign 617781 RETINITIS PIGMENTOSA 80; RP80
Asterisk 617782 GREB1-LIKE PROTEIN; GREB1L CHROMOSOME 18 OPEN READING FRAME 6; C18ORF6;; KIAA1772
Number Sign 617783 NEPHROTIC SYNDROME 16; NPHS16
Number Sign 617784 FANCONI ANEMIA, COMPLEMENTATION GROUP W; FANCW
Asterisk 617785 PAPILIN, PROTEOGLYCAN-LIKE SULFATED GLYCOPROTEIN; PAPLN PAPILIN, DROSOPHILA, HOMOLOG OF; PPN
Asterisk 617786 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 8; CCT8 CHAPERONIN CONTAINING TCP1, SUBUNIT 8;; CCT-THETA; CCTQ;; KIAA0002
Number Sign 617787 MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50
Number Sign 617788 MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51
Asterisk 617789 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 8; TXNDC8 SPERM-SPECIFIC THIOREDOXIN 3; SPTRX3
Asterisk 617790 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 2; TXNDC2 SPERM-SPECIFIC THIOREDOXIN 1; SPTRX; SPTRX1
Asterisk 617791 LEUCINE-RICH REPEAT- AND COILED-COIL DOMAIN-CONTAINING CENTROSOMAL PROTEIN 1; LRRCC1 CENTROSOMAL LEUCINE-RICH REPEAT- AND COILED-COIL DOMAIN-CONTAINING PROTEIN; CLERK;; KIAA1764
Asterisk 617792 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 11; TXNDC11 EF-HAND-BINDING PROTEIN 1; EFP1
Asterisk 617793 EEF1A LYSINE METHYLTRANSFERASE 1; EEF1AKMT1 N6 ADENINE-SPECIFIC DNA METHYLTRANSFERASE 2; N6AMT2
Asterisk 617794 EEF1A LYSINE METHYLTRANSFERASE 2; EEF1AKMT2 METHYLTRANSFERASE-LIKE 10; METTL10
Asterisk 617795 ELONGIN BC- AND POLYCOMB REPRESSIVE COMPLEX 2-ASSOCIATED PROTEIN; EPOP CHROMOSOME 17 OPEN READING FRAME 96; C17ORF96
Number Sign 617796 MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52
Asterisk 617797 SRC-RELATED KINASE LACKING C-TERMINAL REGULATORY TYROSINE AND N-TERMINAL MYRISTYLATION SITES; SRMS SRM;; CHROMOSOME 20 OPEN READING FRAME 148; C20ORF148
Number Sign 617798 MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53
Number Sign 617799 MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54
Number Sign 617800 MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE; MCPH19
Asterisk 617801 CYCLASE-ASSOCIATED ACTIN CYTOSKELETON REGULATORY PROTEIN 1; CAP1 ADENYLYL CYCLASE-ASSOCIATED PROTEIN 1;; CAP
Number Sign 617802 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA
Asterisk 617803 TRANSMEMBRANE PROTEIN 26; TMEM26
Number Sign 617804 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL
Number Sign 617805 RENAL HYPODYSPLASIA/APLASIA 3; RHDA3
Asterisk 617806 TRANSMEMBRANE PROTEIN 86B; TMEM86B LYSOPLASMALOGENASE
Number Sign 617807 NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW
Number Sign 617808 COFFIN-SIRIS SYNDROME 6; CSS6
Number Sign 617809 GELEOPHYSIC DYSPLASIA 3; GPHYSD3
Number Sign 617810 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 DEVELOPMENTAL DELAY, EPILEPSY, CEREBELLAR ATROPHY, AND OSTEOPENIA
Asterisk 617811 DNA REPLICATION REGULATOR AND SPLICEOSOMAL FACTOR SMU1; SMU1 BRAIN-ENRICHED WD-REPEAT PROTEIN; BWD
Asterisk 617812 SOLUTE CARRIER FAMILY 35, MEMBER G2; SLC35G2 TRANSMEMBRANE PROTEIN 22; TMEM22
Asterisk 617813 TRANSMEMBRANE PROTEIN 88; TMEM88
Asterisk 617814 TRANSMEMBRANE PROTEIN 95; TMEM95
Asterisk 617815 POLYMERASE III, RNA, SUBUNIT E; POLR3E SXL INTERACTOR; SIN;; KIAA1452
Number Sign 617816 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16; GPIBD16 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62; MRT62
Asterisk 617817 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 2; TUBGCP2 GAMMA-TUBULIN COMPLEX PROTEIN 2; GCP2;; GAMMA RING COMPLEX PROTEIN, 103-KD; GRIP103;; SPC97, S. POMBE, HOMOLOG OF; SPC97;; ALP4, S. CEREVISIAE, HOMOLOG OF; ALP4
Asterisk 617818 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 3; TUBGCP3 GAMMA-TUBULIN COMPLEX PROTEIN 3; GCP3;; GAMMA RING COMPLEX PROTEIN, 104-KD; GRIP104;; SPC98, S. POMBE, HOMOLOG OF; SPC98;; ALP6, S. CEREVISIAE, HOMOLOG OF; ALP6
Asterisk 617819 RAL GUANINE NUCLEOTIDE EXCHANGE FACTOR WITH PH DOMAIN AND SH3 DOMAIN-BINDING MOTIF 2; RALGPS2 RAL GEF WITH PH DOMAIN AND SH3-BINDING MOTIF 2;; FLJ10244
Number Sign 617820 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR
Number Sign 617821 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2; EDSARTH2 EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT; EDS7B;; EDS VIIB
Number Sign 617822 ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS
Asterisk 617823 PWWP DOMAIN-CONTAINING PROTEIN 2A; PWWP2A
Asterisk 617824 BROMODOMAIN AND WD REPEAT DOMAIN-CONTAINING PROTEIN 1; BRWD1 WD REPEAT-CONTAINING PROTEIN 9; WRD9;; CHROMOSOME 21 OPEN READING FRAME 107; C21ORF107
Number Sign 617825 GLUCOCORTICOID DEFICIENCY 5; GCCD5
Asterisk 617826 UNC50, INNER NUCLEAR MEMBRANE RNA-BINDING PROTEIN; UNC50 UNC50, C. ELEGANS, HOMOLOG OF;; UNCL;; GEA1-6 MEMBRANE-ASSOCIATED HIGH-COPY SUPPRESSOR 1, S. CEREVISIAE, HOMOLOG OF; GMH1
Number Sign 617827 IMMUNODEFICIENCY 55; IMD55
Asterisk 617828 ZINC FINGER HOMEOBOX 2; ZFHX2 ZFH2;; ZINC FINGER HOMEOBOX 5; ZFH5;; ZINC FINGER PROTEIN 409; ZNF409;; KIAA1056;; KIAA1762
Number Sign 617829 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2
Number Sign 617830 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58
Number Sign 617831 MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55
Asterisk 617832 SENTAN, CILIA APICAL STRUCTURAL PROTEIN; SNTN S100A-LIKE PROTEIN; S100AL;; S100A1L
Asterisk 617833 ZFHX2 ANTISENSE RNA 1, NONCODING; ZFHX2AS1 ZFH5 ANTISENSE RNA
Asterisk 617834 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY J, MEMBER 1; PLEKHJ1 GUANINE NUCLEOTIDE-RELEASING PROTEIN X; GNRPX
Asterisk 617835 PYRUVATE DEHYDROGENASE PHOSPHATASE REGULATORY SUBUNIT; PDPR KIAA1990
Number Sign 617836 DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM
Asterisk 617837 GDNF FAMILY RECEPTOR ALPHA-LIKE PROTEIN; GFRAL GRAL
Asterisk 617838 FAMILY WITH SEQUENCE SIMILARITY 234, MEMBER B; FAM234B KIAA1467
Number Sign 617839 AMYOTROPHIC LATERAL SCLEROSIS 23; ALS23
Asterisk 617840 tRNA ISOPENTENYLTRANSFERASE 1; TRIT1 ISOPENTENYLTRANSFERASE; IPT
Asterisk 617841 PROTEASOME SUBUNIT, ALPHA-TYPE, 8; PSMA8 PSMA7-LIKE; PSMA7L
Asterisk 617842 PROTEASOME 26S SUBUNIT, NON-ATPase, 1; PSMD1 p112
Asterisk 617843 RWD DOMAIN-CONTAINING PROTEIN 2B; RWDD2B CHROMOSOME 21 OPEN READING FRAME 6; C21ORF6
Asterisk 617844 PROTEASOME 26S SUBUNIT, NON-ATPase, 8; PSMD8 p31
Asterisk 617845 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 2B; MFSD2B
Asterisk 617846 PHD FINGER PROTEIN 5A; PHF5A SPLICING FACTOR 3B, SUBUNIT 7; SF3B7;; SF3B, 14-KD SUBUNIT, B; SF3B14B
Asterisk 617847 SPLICING FACTOR 3B, SUBUNIT 5; SF3B5 SF3B, 10-KD SUBUNIT; SF3B10
Asterisk 617848 DEAD BOX HELICASE 46; DDX46 DEAD BOX PROTEIN 46;; PRP5, S. CEREVISIAE, HOMOLOG OF; PRP5;; KIAA0801
Asterisk 617849 U2 SMALL NUCLEAR RIBONUCLEOPROTEIN-ASSOCIATED SURP DOMAIN-CONTAINING PROTEIN; U2SURP U2 snRNP-ASSOCIATED SURP DOMAIN-CONTAINING PROTEIN;; SER/ARG-RICH DOMAIN PROTEIN, 140-KD; SR140;; KIAA0332
Asterisk 617850 SERTA DOMAIN-CONTAINING PROTEIN 1; SERTAD1 TRANSCRIPTIONAL REGULATOR INTERACTING WITH PHD-BROMODOMAIN 1; TRIPBR1;; SEI1;; p34(SEI1)
Asterisk 617851 SERTA DOMAIN-CONTAINING PROTEIN 2; SERTAD2 TRANSCRIPTIONAL REGULATOR INTERACTING WITH PHD-BROMODOMAIN 2; TRIPBR2;; KIAA0127
Asterisk 617852 SEC23-INTERACTING PROTEIN; SEC23IP p125
Asterisk 617853 SMALL VASOHIBIN-BINDING PROTEIN; SVBP COILED-COIL DOMAIN-CONTAINING PROTEIN 23; CCDC23
Number Sign 617854 MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56
Asterisk 617855 BASE METHYLTRANSFERASE OF 25S rRNA 2, S. CEREVISIAE, HOMOLOG OF; BMT2 S-ADENOSYLMETHIONINE SENSOR UPSTREAM OF MTORC1; SAMTOR;; CHROMOSOME 7 OPEN READING FRAME 60; C7ORF60
Asterisk 617856 THYMOCYTE SELECTION-ASSOCIATED PROTEIN FAMILY, MEMBER 2; THEMIS2 CHROMOSOME 1 OPEN READING FRAME 38; C1ORF38;; INDUCED BY CONTACT WITH BASEMENT MEMBRANE 1; ICB1
Asterisk 617857 PROTEASOME 26S SUBUNIT, NON-ATPase, 6; PSMD6 PROTEASOME 26S, SUBUNIT 10, 44-KD;; p44S10;; KIAA0107
Asterisk 617858 PROTEASOME INHIBITOR SUBUNIT 1; PSMF1 PROTEASOME INHIBITOR, 31-KD; PI31
Asterisk 617859 DISCS LARGE-ASSOCIATED PROTEIN 5; DLGAP5 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 7; DLG7;; HEPATOMA-UPREGULATED PROTEIN; HURP;; KIAA0008
Asterisk 617860 SURFACTANT-ASSOCIATED PROTEIN 3; SFTA3 SURFACTANT PROTEIN H; SPH
Asterisk 617861 MYB-RELATED TRANSCRIPTION FACTOR, PARTNER OF PROFILIN; MYPOP PARTNER OF PROFILIN, 42-KD;; p42(POP)
Number Sign 617862 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY; NEDMEBA
Number Sign 617864 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES; NEDSGA
Number Sign 617865 NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA
Number Sign 617866 SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18
Asterisk 617867 TUMOR PROTEIN p53-INDUCIBLE PROTEIN 11; TP53I11 p53-INDUCIBLE GENE 11; PIG11
Asterisk 617868 NUCLEAR ASSEMBLY FACTOR 1 RIBONUCLEOPROTEIN; NAF1 NAF1, S. CEREVISIAE, HOMOLOG OF
Asterisk 617869 NK1 HOMEOBOX 1; NKX1-1 SAX2
Asterisk 617870 CENTROSOMAL PROTEIN 350; CEP350 CENTROSOME-ASSOCIATED PROTEIN, 350-KD; CAP350;; KIAA0480
Number Sign 617871 RETINITIS PIGMENTOSA 81; RP81
Number Sign 617872 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34; COXPD34
Number Sign 617873 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35
Number Sign 617874 POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3
Number Sign 617875 POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS; PCLD4
Asterisk 617876 RNA, U7 SMALL NUCLEAR, 1; RNU7-1 RNU7;; U7.1
Number Sign 617877 SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC
Asterisk 617878 TUBULIN, ALPHA-3D; TUBA3D H2-ALPHA
Number Sign 617879 LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS; LCAEOD
Asterisk 617880 POC5 CENTRIOLAR PROTEIN; POC5 PROTEOME OF CENTRIOLE 5, CHLAMYDOMONAS, HOMOLOG OF;; CHROMOSOME 5 OPEN READING FRAME 37; C5ORF37
Asterisk 617881 CHROMOSOME 4 OPEN READING FRAME 54; C4ORF54 LOC285556;; FOPV GENE
Number Sign 617882 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG
Number Sign 617883 FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS
Asterisk 617884 HEPATOMA-DERIVED GROWTH FACTOR-LIKE PROTEIN 2; HDGFL2 HDGF-LIKE PROTEIN 2;; HDGF-RELATED PROTEIN 2; HRP2; HDGFRP2
Number Sign 617885 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19; BMIQ19 OBESITY, SUSCEPTIBILITY TO
Asterisk 617886 ZINC FINGER PROTEIN 512B; ZNF512B GAM;; KIAA1196
Asterisk 617887 AGMATINASE; AGMAT AGMATINE UREOHYDROLASE; AUH
Asterisk 617888 ZINC FINGER PROTEIN 580; ZNF580
Asterisk 617889 PYRIDINE NUCLEOTIDE-DISULPHIDE OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 2; PYROXD2 CHROMOSOME 10 OPEN READING FRAME 33; C10ORF33;; YUEF
Asterisk 617890 ZINC FINGER PROTEIN 664; ZNF664 ZINC FINGER, ORGAN OF CORTI, 1; ZFOC1
Asterisk 617891 ZINC FINGER PROTEIN 655; ZNF655 VAV1-INTERACTING KRUPPEL-LIKE PROTEIN; VIK
Number Sign 617892 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24; ALS24
Asterisk 617893 RIBOSOMAL PROTEIN L36; RPL36
Asterisk 617894 TRANSMEMBRANE PROTEIN 50B; TMEM50B CHROMOSOME 21 OPEN READING FRAME 4; C21ORF4
Number Sign 617895 SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19
Asterisk 617896 ZIC FAMILY, MEMBER 5; ZIC5 ZINC FINGER PROTEIN OF CEREBELLUM 5;; ODD PAIRED-RELATED PROTEIN; OPR;; OPA-RELATED PROTEIN
Asterisk 617897 CITRATE SYNTHASE LYSINE METHYLTRANSFERASE; CSKMT METHYLTRANSFERASE-LIKE 12; METTL12
Number Sign 617898 MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4
Number Sign 617899 LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14
Number Sign 617900 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 6
Asterisk 617901 DEXAMETHASONE-INDUCED GENE; DEXI MYLE
Asterisk 617902 GALECTIN-LIKE PROTEIN; LGALSL GALECTIN-RELATED PROTEIN; GRP;; HSPC159
Number Sign 617903 NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS
Number Sign 617904 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59; EIEE59
Asterisk 617905 HYPOXIA-INDUCIBLE LIPID DROPLET-ASSOCIATED PROTEIN; HILPDA HYPOXIA-INDUCIBLE PROTEIN 2; HIG2
Asterisk 617906 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 20; CFAP20 BASAL BODY UPREGULATED GENE 22; BUG22;; CHROMOSOME 16 OPEN READING FRAME 80; C16ORF80;; FUNCTIONAL SPLICEOSOME-ASSOCIATED PROTEIN 23; FSAP23
Number Sign 617907 ERYTHROCYTOSIS, FAMILIAL, 5; ECYT5
Asterisk 617908 ZINC FINGER PROTEIN 473; ZNF473 ZINC FINGER PROTEIN, 100-KD; ZFP100;; KIAA1141
Asterisk 617909 LSM10, U7 SMALL NUCLEAR RNA-ASSOCIATED PROTEIN; LSM10
Asterisk 617910 LSM11, U7 SMALL NUCLEAR RNA-ASSOCIATED PROTEIN; LSM11
Number Sign 617911 DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL
Number Sign 617912 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5; CHTD5
Number Sign 617913 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES; NEDMCR
Number Sign 617914 MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20
Number Sign 617915 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS
Number Sign 617916 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7; NBIA7
Number Sign 617917 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8
Asterisk 617918 STRIATIN-INTERACTING PROTEIN 1; STRIP1 FAR11, S. CEREVISIAE, HOMOLOG OF, A; FAR11A;; FAMILY WITH SEQUENCE SIMILARITY 40, MEMBER A; FAM40A
Asterisk 617919 STRIATIN-INTERACTING PROTEIN 2; STRIP2 FAR11, S. CEREVISIAE, HOMOLOG OF, B; FAR11B;; FAMILY WITH SEQUENCE SIMILARITY 40, MEMBER B; FAM40B
Number Sign 617920 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3; PLCA3 AMYLOIDOSIS CUTIS DYSCHROMICA; ACD
Number Sign 617921 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25; ALS25
Asterisk 617922 GLYCOPHORIN A; GYPA GPA;; GLYCOPHORIN, ALPHA
Asterisk 617923 GLYCOPHORIN B; GYPB GPB;; GLYCOPHORIN, DELTA
Number Sign 617924 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10; EJM10
Number Sign 617925 SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20
Number Sign 617926 OROFACIODIGITAL SYNDROME XVII; OFD17 OFDS XVII;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII
Number Sign 617927 OROFACIODIGITAL SYNDROME XVIII; OFD18 OFDS XVIII;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVIII
Number Sign 617928 KERATOCONUS 9; KTCN9
Number Sign 617929 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60
Asterisk 617932 RHOPHILIN 2; RHPN2 RHO GTPase-BINDING PROTEIN 2
Number Sign 617933 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61; EIEE61
Asterisk 617934 AE-BINDING PROTEIN 2; AEBP2 ADIPOCYTE ENHANCER-BINDING PROTEIN 2;; ZINC FINGER PROTEIN AEBP2
Asterisk 617937 RNA-BINDING MOTIF PROTEIN 11; RBM11
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# MIM number prefix:
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# Asterisk (*) Gene
# Plus (+) Gene and phenotype, combined
# Number Sign (#) Phenotype, molecular basis known
# Percent (%) Phenotype or locus, molecular basis unknown
# NULL (<null>) Other, mainly phenotypes with suspected mendelian basis
# Caret (^) Entry has been removed from the database or moved to another entry
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