Human disease genes list

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Genes Associated with Diseases

Genetic diseases are caused by abnormalities in genes or chromosomes. Many genetic diseases are conditions present from before birth. Most genetic disorders are quite rare. A genetic disease may or may not be a heritable disorder. Some genetic diseases are passed down from the parents' genes, but others are frequently or always caused by new mutations or changes to the DNA. In other instances, the same disease, for example, some forms of cancer, may stem from an inherited genetic condition in some people, from new mutations in other people, and from non-genetic causes in still other people. There are more than 6,000 known single-gene (or monogenic) disorders, which occur in about 1 out of every 200 births. As their name suggests, these diseases are caused by a mutation in one gene. By contrast, polygenic disorders are caused by several genes, frequently in combination with environmental factors. Examples of genetic phenotypes include Alzheimer's disease, breast cancer, leukemia, Down syndrome, heart disease, and deafness.

6548 "disease genes" are currently present in the GeneCards database

The genes listed here cause, predispose or protect from diseases
(according to OMIM, SWISS-PROT, Genatlas, GeneTests, GAD, GDPInfo, bioalma, Leiden, Atlas, BCGD, TGDB and/or HGMD ).

GeneCard	Gene Name	Locus	Disorders
A2M	alpha-2-macroglobulin	12p13.3-p12.3	Emphysema due to alpha-2-macroglobulin deficiency Alzheimer disease, susceptibility to [MIM:104300]
A4GALT	alpha 1,4-galactosyltransferase	22q13.2	Blood group, P system [MIM:111400]
A4GNT	alpha-1,4-N-acetylglucosaminyltransferase	?	mutations
AA1	Alopecia areata 1	18p11.3-p11.2	Alopecia areata 1
AA2	Alopecia areata 2	16q11-q22	Alopecia areata 2
AAA1	aortic aneurysm, familial abdominal 1	19q13	Aortic aneurysm, familial abdominal 1
AAA2	Aortic aneurysm, familial abdominal 2	4q31	Aortic aneurysm, familial abdominal 2
AAA3	Aneurysm, familial abdominal 3	9p21	Aneurysm, familial abdominal 3
AAAS	achalasia, adrenocortical insufficiency, alacrimia	12q13	Achalasia-addisonianism-alacrimia syndrome [MIM:231550]
AADACL2	arylacetamide deacetylase-like 2	?	mutations
AADAC	arylacetamide deacetylase	3q21.3-q25.2	mutations
AAGAB	alpha- and gamma-adaptin binding protein	?	mutations
AANAT	aralkylamine N-acetyltransferase	17q25	Delayed sleep phase syndrome, susceptibility to
AARS2	alanyl-tRNA synthetase 2, mitochondrial	6p21.1	mutations
AARS	alanyl-tRNA synthetase	16q22	Charcot-Marie-Tooth disease, axonal, type 2N [MIM:613287]
AASS	aminoadipate-semialdehyde synthase	7q31.3	Hyperlysinemia [MIM:238700] Saccharopinuria [MIM:268700]
AAT1	Aortic aneurysm, familial thoracic 1	11q23.3-q24	Aortic aneurysm, familial thoracic 1
AAT2	Aortic aneurysm, familial thoracic 2	5q13-q14	Aortic aneurysm, familial thoracic 2
ABAT	4-aminobutyrate aminotransferase	16p13.3	GABA-transaminase deficiency [MIM:613163]
ABCA10	ATP-binding cassette, sub-family A (ABC1), member 10	17q24.2	mutations
ABCA12	ATP-binding cassette, sub-family A (ABC1), member 12	2q34	Ichthyosis, lamellar 2 [MIM:601277] Ichthyosis, harlequin [MIM:242500]
ABCA13	ATP-binding cassette, sub-family A (ABC1), member 13	7p12.3	mutations
ABCA1	ATP-binding cassette, sub-family A (ABC1), member 1	9q22-q31	Tangier disease [MIM:205400] HDL deficiency, type 2 [MIM:604091] Coronary artery disease in familial hypercholesterolemia, protection against [MIM:143890]
ABCA2	ATP-binding cassette, sub-family A (ABC1), member 2	9q34	mutations
ABCA3	ATP-binding cassette, sub-family A (ABC1), member 3	16p13.3	Surfactant metabolism dysfunction, pulmonary, 3 [MIM:610921]
ABCA4	ATP-binding cassette, sub-family A (ABC1), member 4	1p22.1	Stargardt disease-1 [MIM:248200] Retinitis pigmentosa-19 [MIM:601718] Cone-rod dystrophy 3 [MIM:604116] Macular degeneration, age-related, 2 [MIM:153800] Fundus flavimaculatus [MIM:248200] Retinal dystrophy, early-onset severe [MIM:248200]
ABCA7	ATP-binding cassette, sub-family A (ABC1), member 7	19p13.3	mutations
ABCB11	ATP-binding cassette, sub-family B (MDR/TAP), member 11	2q24	Cholestasis, progressive familial intrahepatic 2 [MIM:601847] Cholestasis, benign recurrent intrahepatic, 2 [MIM:605479]
ABCB1	ATP-binding cassette, sub-family B (MDR/TAP), member 1	7q21.1	Colchicine resistance Inflammatory bowel disease 13 [MIM:612244]
ABCB4	ATP-binding cassette, sub-family B (MDR/TAP), member 4	7q21.1	Cholestasis, progressive familial intrahepatic 3 [MIM:602347] Cholestasis, familial intrahepatic, of pregnancy [MIM:147480] Gallbladder disease 1 [MIM:600803]
ABCB6	ATP-binding cassette, sub-family B (MDR/TAP), member 6	2q36	mutations
ABCB7	ATP-binding cassette, sub-family B (MDR/TAP), member 7	Xq13.1-q13.3	Anemia, sideroblastic, with ataxia [MIM:301310]
ABCC11	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	16q12.1	Earwax, wet/dry [MIM:117800] Axillary odor, variation in [MIM:117800] Colostrum secretion, variation in [MIM:117800]
ABCC1	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	16p13.1	mutations
ABCC2	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	10q24	Dubin-Johnson syndrome [MIM:237500]
ABCC3	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	17q22	mutations
ABCC4	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	13q32	mutations
ABCC6	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	16p13.1	Pseudoxanthoma elasticum [MIM:264800] Pseudoxanthoma elasticum, forme fruste [MIM:177850]
ABCC8	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	11p15.1	Hyperinsulinemic hypoglycemia, familial, 1 [MIM:256450] Hypoglycemia of infancy, leucine-sensitive [MIM:240800] Diabetes mellitus, transient neonatal 2 [MIM:610374] Diabetes mellitus, noninsulin-dependent [MIM:125853] Diabetes mellitus, permanent neonatal [MIM:606176]
ABCC9	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	12p12.1	Cardiomyopathy, dilated, 1O [MIM:608569]
ABCD1	ATP-binding cassette, sub-family D (ALD), member 1	Xq28	Adrenoleukodystrophy [MIM:300100] Adrenomyeloneuropathy [MIM:300100]
ABCD3	ATP-binding cassette, sub-family D (ALD), member 3	1p22-p21	Zellweger syndrome-2
ABCD4	ATP-binding cassette, sub-family D (ALD), member 4	14q24.3	mutations
ABCG1	ATP-binding cassette, sub-family G (WHITE), member 1	21q22.3	mutations
ABCG2	ATP-binding cassette, sub-family G (WHITE), member 2	4q22	mutations
ABCG5	ATP-binding cassette, sub-family G (WHITE), member 5	2p21	Sitosterolemia [MIM:210250]
ABCG8	ATP-binding cassette, sub-family G (WHITE), member 8	2p21	Sitosterolemia [MIM:210250] Gallbladder disease 4 [MIM:611465]
ABHD12	abhydrolase domain containing 12	20p11.21	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [MIM:612674]
ABHD5	abhydrolase domain containing 5	3p21	Chanarin-Dorfman syndrome [MIM:275630]
ABI3BP	ABI family, member 3 (NESH) binding protein	3q12	mutations
ABL1	c-abl oncogene 1, non-receptor tyrosine kinase	9q34.1	Leukemia, Philadelphia chromosome-positive, resistant to imatinib
ABL2	v-abl Abelson murine leukemia viral oncogene homolog 2	1q24-q25	Leukemia, acute myeloid, with eosinophilia
ABO	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	9q34	Blood group, ABO system
ABP1	amiloride binding protein 1 (amine oxidase (copper-containing))	7q31-q32	mutations
ACAA1	acetyl-CoA acyltransferase 1	3p23-p22	pseudo Zellweger syndrome with abundant peroxisomes and normal plasmalogen biosynthesis (ACAA deficiency)
ACACA	acetyl-CoA carboxylase alpha	17q21	Acetyl-CoA carboxylase deficiency
ACACB	acetyl-CoA carboxylase beta	12q24.1	mutations
ACAD8	acyl-CoA dehydrogenase family, member 8	11q25	Isobutyryl-CoA dehydrogenase deficiency [MIM:611283]
ACAD9	acyl-CoA dehydrogenase family, member 9	3q26	ACAD9 deficiency [MIM:611126]
ACADL	acyl-CoA dehydrogenase, long chain	2q34-q35	Acyl-CoA dehydrogenase, long chain, deficiency of [MIM:201460]
ACADM	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	1p31	Acyl-CoA dehydrogenase, medium chain, deficiency of [MIM:201450]
ACADSB	acyl-CoA dehydrogenase, short/branched chain	10q25-q26	2-methylbutyrylglycinuria [MIM:610006]
ACADS	acyl-CoA dehydrogenase, C-2 to C-3 short chain	12q22-qter	Acyl-CoA dehydrogenase, short-chain, deficiency of [MIM:201470]
ACADVL	acyl-CoA dehydrogenase, very long chain	17p13	VLCAD deficiency [MIM:201475]
ACAN	aggrecan	15q26.1	Spondyloepiphyseal dysplasia, Kimberley type [MIM:608361] Spondyloepimetaphyseal dysplasia, aggrecan type [MIM:612813] Osteochondritis dissecans, short stature, and early-onset osteoarthritis [MIM:165800]
ACAT1	acetyl-CoA acetyltransferase 1	11q22.3-q23.1	Alpha-methylacetoacetic aciduria [MIM:203750]
ACAT2	acetyl-CoA acetyltransferase 2	6q25.3-q26	ACAT2 deficiency
ACBD5	acyl-CoA binding domain containing 5	?	mutations
ACBD6	acyl-CoA binding domain containing 6	?	mutations
ACCS	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	11p11	mutations
ACE	angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	17q23	Myocardial infarction, susceptibility to Alzheimer disease, susceptibility to [MIM:104300] Microvascular complications of diabetes 3 [MIM:612624] Angiotensin I-converting enzyme, benign serum increase SARS, progression of Renal tubular dysgenesis [MIM:267430]
ACF	Asymmetric crying facies (Cayler cardiofacial syndrome)	22q11	Cayler cardiofacial syndrome
ACHE	acetylcholinesterase	7q22	Blood group, Yt system [MIM:112100]
ACLS	acrocallosal syndrome	7p13	Greig cephalopolysyndactyly syndrome [MIM:175700] Pallister-Hall syndrome [MIM:146510] Polydactyly, preaxial, type IV [MIM:174700] Polydactyly, postaxial, types A1 and B [MIM:174200] Acrocallosal syndrome [MIM:200990] Hypothalamic hamartomas, somatic [MIM:241800]
ACLY	ATP citrate lyase	17q21.1	mutations
ACO2	aconitase 2, mitochondrial	22q11.21-q13.31	mutations
ACOX1	acyl-CoA oxidase 1, palmitoyl	17q25	Peroxisomal acyl-CoA oxidase deficiency [MIM:264470]
ACP2	acid phosphatase 2, lysosomal	11p12-p11	Lysosomal acid phosphatase deficiency [MIM:200950]
ACP5	acid phosphatase 5, tartrate resistant	19p13.3-p13.1	mutations
ACRPS	Acropectoral syndrome	7q36	Acropectoral syndrome
ACRPV	Acropectorovertebral dysplasia (F syndrome)	2q36	Acropectorovertebral dysplasia
ACR	acrosin	22q13.3	Male infertility due to acrosin deficiency
ACSF3	acyl-CoA synthetase family member 3	?	mutations
ACSL4	acyl-CoA synthetase long-chain family member 4	Xq22.3	Mental retardation, X-linked nonspecific, 63 [MIM:300387]
ACSL5	acyl-CoA synthetase long-chain family member 5	10q25.1-q25.2	mutations
ACSL6	acyl-CoA synthetase long-chain family member 6	5q31	Myelodysplastic syndrome Myelogenous leukemia, acute
ACSM2B	acyl-CoA synthetase medium-chain family member 2B	?	mutations
ACSM3	acyl-CoA synthetase medium-chain family member 3	16p13.11	Hypertension, essential
ACTA1	actin, alpha 1, skeletal muscle	1q42.1	Myopathy, nemaline, 3 [MIM:161800] Myopathy, actin, congenital, with excess of thin myofilaments [MIM:161800] Myopathy, actin, congenital, with cores Myopathy, congenital, with fiber-type disproportion 1 [MIM:255310]
ACTA2	actin, alpha 2, smooth muscle, aorta	10q22-q24	Aortic aneurysm, familial thoracic 6 [MIM:611788]
ACTB	actin, beta	7p22-p12	Dystonia, juvenile-onset [MIM:607371]
ACTC1	actin, alpha, cardiac muscle 1	15q14	Cardiomyopathy, dilated, 1R [MIM:613424] Cardiomyopathy, familial hypertrophic, 11 [MIM:612098] Atrial septal defect 5 [MIM:612794] Left ventricular noncompaction 4 [MIM:613424]
ACTD	Acetabular dysplasia	13q22	Acetabular dysplasia
ACTG1	actin, gamma 1	17q25.3	Deafness, autosomal dominant 20/26 [MIM:604717]
ACTN2	actinin, alpha 2	1q42-q43	Cardiomyopathy, dilated, 1AA [MIM:612158]
ACTN3	actinin, alpha 3 (gene/pseudogene)	11q13-q14	Alpha-actinin-3 deficiency Sprinting performance
ACTN4	actinin, alpha 4	19q13	Glomerulosclerosis, focal segmental, 1 [MIM:603278]
ACT	actin-like protein (ACT) gene	17p13-p12	mutations
ACVR1B	activin A receptor, type IB	12q13	Pancreatic cancer, somatic
ACVR1C	activin A receptor, type IC	2q24.1	mutations
ACVR1	activin A receptor, type I	2q23-q24	Fibrodysplasia ossificans progressiva [MIM:135100]
ACVR2B	activin A receptor, type IIB	3p22-p21.3	Heterotaxy, visceral, 4, autosomal
ACVRL1	activin A receptor type II-like 1	12q11-q14	Telangiectasia, hereditary hemorrhagic, type 2 [MIM:600376]
ACY1	aminoacylase 1	3p21.1	Aminoacylase 1 deficiency [MIM:609924]
AD10	Alzheimer disease-10	7q36	Alzheimer disease-10 [MIM:104300]
AD11	Alzheimer disease-11	9p22.1	Alzheimer disease-11
AD12	Alzheimer disease 12	8p12-q22	Alzheimer disease 12
AD13	Alzheimer disease-13	1q21	Alzheimer disease-13
AD14	Alzheimer disease 14	1q25	Alzheimer disease-14
AD15	Alzheimer disease-15	3q22-q24	Alzheimer disease-15
AD16	Alzheimer disease 16	Xq21.3	Alzheimer disease 16
AD5	Alzheimer disease 5	12p11.23-q13.12	Alzheimer disease-5 [MIM:104300]
AD6	Alzheimer disease 6	10q24	Alzheimer disease 6 [MIM:104300]
AD7	Alzheimer disease 7	10p13	Alzheimer disease-7
AD8	Alzheimer disease 8	20p	Alzheimer disease 8 [MIM:104300]
AD9	Alzheimer disease 9	19p13.2	Alzheimer disease 9, late onset, susceptibility to [MIM:104300]
ADAM10	ADAM metallopeptidase domain 10	15q21.3-q23	mutations
ADAM12	ADAM metallopeptidase domain 12	10q26.3	mutations
ADAM17	ADAM metallopeptidase domain 17	2p25	mutations
ADAM19	ADAM metallopeptidase domain 19	5q32-q33	mutations
ADAM22	ADAM metallopeptidase domain 22	7q21	mutations
ADAM33	ADAM metallopeptidase domain 33	20p13	mutations
ADAM7	ADAM metallopeptidase domain 7	8p12	mutations
ADAM9	ADAM metallopeptidase domain 9	8p11.23	Cone-rod dystrophy 9 [MIM:612775]
ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif, 10	19p13.3-p13.2	Weill-Marchesani syndrome, recessive [MIM:277600]
ADAMTS13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	9q34	Thrombotic thrombocytopenic purpura, familial [MIM:274150]
ADAMTS16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	5p15	mutations
ADAMTS17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	15q24	Weill-Marchesani-like syndrome [MIM:613195]
ADAMTS18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	16q23	mutations
ADAMTS2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	5q23	Ehlers-Danlos syndrome, type VIIC [MIM:225410]
ADAMTSL2	ADAMTS-like 2	9q34.2	Geleophysic dysplasia [MIM:231050]
ADAMTSL3	ADAMTS-like 3	15q25.2	mutations
ADAMTSL4	ADAMTS-like 4	1q21	Ectopia lentis, isolated, autosomal recessive [MIM:225100]
ADARB1	adenosine deaminase, RNA-specific, B1	21q22.3	mutations
ADAR	adenosine deaminase, RNA-specific	1q21.3	Dyschromatosis symmetrica hereditaria [MIM:127400]
ADA	adenosine deaminase	20q13.11	Severe combined immunodeficiency due to ADA deficiency [MIM:102700] Adenosine deaminase deficiency, partial [MIM:102700]
ADCK3	aarF domain containing kinase 3	1q42.2	Coenzyme Q10 deficiency [MIM:607426] Spinocerebellar ataxia, autosomal recessive 9 [MIM:612016]
ADCY10	adenylate cyclase 10 (soluble)	1q24	Hypercalciuria, absorptive, susceptibility to [MIM:143870]
ADCY3	adenylate cyclase 3	2p24-p22	mutations
ADCY5	adenylate cyclase 5	3q13.2-q21	mutations
ADCY6	adenylate cyclase 6	12q12-q13	mutations
ADCY8	adenylate cyclase 8 (brain)	8q24.2	mutations
ADCY9	adenylate cyclase 9	16p13.3	mutations
ADCYAP1	adenylate cyclase activating polypeptide 1 (pituitary)	18p11	mutations
ADC	arginine decarboxylase	?	mutations
ADD1	adducin 1 (alpha)	4p16.3	Hypertension, essential, salt-sensitive [MIM:145500]
ADFN	albinism-deafness syndrome	Xq26.3-q27.1	Albinism-deafness syndrome
ADH1B	alcohol dehydrogenase 1B (class I), beta polypeptide	4q22	Alcoholism, susceptibility to [MIM:103780]
ADH1C	alcohol dehydrogenase 1C (class I), gamma polypeptide	4q22	Alcohol dependence, protection against [MIM:103780] Parkinson disease, susceptibility to [MIM:168600]
ADH4	alcohol dehydrogenase 4 (class II), pi polypeptide	4q22	mutations
ADH5	alcohol dehydrogenase 5 (class III), chi polypeptide	4q21-q25	mutations
ADH7	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	4q23-q24	mutations
ADHD1	Attention deficit-hyperactivity disorder, susceptibility to, 1	16p13	Attention deficit-hyperactivity disorder [MIM:143465]
ADHD2	Attention deficit-hyperactivity disorder, susceptibility to, 2	17p11	Attention deficit-hyperactivity disorder [MIM:143465]
ADHD3	Attention deficit-hyperactivity disorder, susceptibility to, 2	6q12	Attention deficit-hyperactivity disorder [MIM:143465]
ADHD4	Attention deficit-hyperactivity disorder, susceptibility to, 4	5p13	Attention deficit-hyperactivity disorder [MIM:143465]
ADHD5	Attention deficit-hyperactivity disorder, susceptibility to, 5	2q21.1	Attention deficit-hyperactivity disorder, susceptibility to, 5
ADHD6	Attention deficit-hyperactivity disorder, susceptibility to, 6	13q12.11	Attention deficit-hyperactivity disorder, susceptibility to, 6
ADIPOQ	adiponectin, C1Q and collagen domain containing	3q27	Adiponectin deficiency [MIM:612556]
ADIPOR1	adiponectin receptor 1	1p36.13-q41	mutations
ADIPQTL4	Adiponectin, serum level of, QTL4	11q23-q24	Adiponectin, serum level of, QTL4
ADK	adenosine kinase	10q11-q24	mutations
ADM	adrenomedullin	11p15.4	mutations
ADNP	activity-dependent neuroprotector homeobox	?	mutations
ADORA1	adenosine A1 receptor	1q32.1	mutations
ADORA2A	adenosine A2a receptor	22q11.2	mutations
ADORA3	adenosine A3 receptor	1p21-p13	mutations
ADRA1A	adrenoceptor alpha 1A	8p21	mutations
ADRA2A	adrenoceptor alpha 2A	10q24-q26	mutations
ADRA2B	adrenoceptor alpha 2B	2q11.2	mutations
ADRA2C	adrenoceptor alpha 2C	4p16.1	Congestive heart failure and beta-blocker response, modifier of
ADRB1	adrenoceptor beta 1	10q24-q26	Resting heart rate [MIM:607276] Congestive heart failure and beta-blocker response, modifier of (3) 19
ADRB2	adrenoceptor beta 2, surface	5q32-q34	Asthma, nocturnal, susceptibility to [MIM:600807] Obesity, susceptibility to [MIM:601665] Beta-2-adrenoreceptor agonist, reduced response to (3) 18
ADRB3	adrenoceptor beta 3	8p12-p11.2	Obesity, susceptibility to [MIM:601665]
ADRBK2	adrenergic, beta, receptor kinase 2	22q11	mutations
ADSL	adenylosuccinate lyase	22q13.1	Adenylosuccinase deficiency [MIM:103050]
AFA1	Alopecia, androgenetic	3q26	Alopecia, androgenetic
AFD1	acrofacial dysostosis 1, Nager type	9q32	Acrofacial dysostosis, Nager type
AFF2	AF4/FMR2 family, member 2	Xq28	Mental retardation, X-linked, FRAXE type [MIM:309548]
AFF3	AF4/FMR2 family, member 3	2q11.2-q12	mutations
AFG3L2	AFG3 ATPase family member 3-like 2 (S. cerevisiae)	18p11	Spinocerebellar ataxia 28 [MIM:610246]
AFP	alpha-fetoprotein	4q11-q13	AFP deficiency, congenital Hereditary persistence of alpha-fetoprotein
AGA2	Alopecia, androgenetic, 2	Xq11-q12	Alopecia, androgenetic, 2
AGA3	Alopecia, androgenetic, 3	20p11.22	Alopecia, androgenetic, 3
AGA	aspartylglucosaminidase	4q32-q33	Aspartylglucosaminuria [MIM:208400]
AGBL4	ATP/GTP binding protein-like 4	?	mutations
AGER	advanced glycosylation end product-specific receptor	6p21.3	mutations
AGGF1	angiogenic factor with G patch and FHA domains 1	5q13.3	mutations
AGK	acylglycerol kinase	7q34	mutations
AGL	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1p21	Glycogen storage disease IIIa [MIM:232400] Glycogen storage disease IIIb [MIM:232400]
AGMX2	agammaglobulinemia, X-linked 2 (with growth hormone deficiency)	Xp22	Agammaglobulinemia, X-linked 2
AGPAT2	1-acylglycerol-3-phosphate O-acyltransferase 2	9q34.3	Lipodystrophy, congenital generalized, type 1 [MIM:608594]
AGPS	alkylglycerone phosphate synthase	2q31	Rhizomelic chondrodysplasia punctata, type 3 [MIM:600121]
AGRN	agrin	1pter-p32	Myasthenia, limb-girdle, familial [MIM:254300]
AGRP	agouti related protein homolog (mouse)	16q22	Obesity, late-onset [MIM:601665] Leanness, inherited
AGSPX	Angio serpiginosum	Xp11.3-q12	Angio serpiginosum
AGTR1	angiotensin II receptor, type 1	3q21-q25	Hypertension, essential [MIM:145500] Renal tubular dysgenesis [MIM:267430]
AGTR2	angiotensin II receptor, type 2	Xq22-q23	Mental retardation, X-linked-88
AGT	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	1q42-q43	Hypertension, essential, susceptibility to [MIM:145500] Preeclampsia, susceptibility to Renal tubular dysgenesis [MIM:267430]
AGXT2L1	alanine-glyoxylate aminotransferase 2-like 1	?	mutations
AGXT2	alanine--glyoxylate aminotransferase 2	5p13	mutations
AGXT	alanine-glyoxylate aminotransferase	2q36-q37	Hyperoxaluria, primary, type 1 [MIM:259900]
AHCY	adenosylhomocysteinase	20cen-q13.1	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
AHI1	Abelson helper integration site 1	6q23.3	Joubert syndrome-3 [MIM:608629]
AHNAK2	AHNAK nucleoprotein 2	?	mutations
AHRR	aryl-hydrocarbon receptor repressor	5p15.3	mutations
AHR	aryl hydrocarbon receptor	7p15	mutations
AHSG	alpha-2-HS-glycoprotein	3q27	mutations
AHSP	alpha hemoglobin stabilizing protein	16p11.2	mutations
AICDA	activation-induced cytidine deaminase	12p13	Immunodeficiency with hyper-IgM, type 2 [MIM:605258]
AIC	Aicardi syndrome	Xp22	Aicardi syndrome
AIF1	allograft inflammatory factor 1	6p21.3	mutations
AIFM1	apoptosis-inducing factor, mitochondrion-associated, 1	Xq25-q26	Combined oxidative phosphorylation deficiency 6 [MIM:300816]
AIH3	amelogenesis imperfecta 3, hypomaturation or hypoplastic type	Xq22-q28	Amelogenesis imperfecta-3, hypoplastic type
AIMP1	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	4q24	mutations
AIPL1	aryl hydrocarbon receptor interacting protein-like 1	17p13.1	Leber congenital amaurosis 4 [MIM:604393] Retinitis pigmentosa, juvenile Cone-rod dystrophy
AIP	aryl hydrocarbon receptor interacting protein	11q13.3	Pituitary adenoma, growth hormone-secreting [MIM:102200] Pituitary adenoma, prolactin-secreting [MIM:600634] Pituitary adenoma, ACTH-secreting [MIM:219090]
AIRE	autoimmune regulator	21q22.3	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia [MIM:240300]
AIR	Acute insulin response (2)	1p31	Acute insulin response
AIS2	autoimmune susceptibility 2	7	Autoimmune disease, susceptibility to, 2
AIS3	autoimmune susceptibility 3 (vitiligo specific)	8	Autoimmune disease, susceptibility to, 3
AIS4	autoimmune disease, susceptibility to, 4	4q13-q21	Autoimmune disease, susceptibility to, 4
AIS	Adolescent idiopathic scoliosis	19p13.3	Scoliosis, idiopathic 1
AITD1	Autoimmune thyroid disease, susceptibility to, 1	6p11	Autoimmune thyroid disease, susceptibility to, 1
AITD2	Autoimmune thyroid disease, susceptibility to, 2	5q31-q33	Autoimmune thyroid disease, susceptibility to, 2
AITD4	Autoimmune thyroid disease, susceptibility to, 4	10q	Autoimmune thyroid disease, susceptibility to, 4
AK1	adenylate kinase 1	9q34.1	Hemolytic anemia due to adenylate kinase deficiency [MIM:612631]
AK2	adenylate kinase 2	1p34	Reticular dysgenesis [MIM:267500]
AKAP10	A kinase (PRKA) anchor protein 10	17p11.1	Cardiac conduction defect, susceptibility to [MIM:115080]
AKAP13	A kinase (PRKA) anchor protein 13	15q24-q25	mutations
AKAP2	A kinase (PRKA) anchor protein 2	9q31-q33	mutations
AKAP5	A kinase (PRKA) anchor protein 5	?	mutations
AKAP9	A kinase (PRKA) anchor protein (yotiao) 9	7q21-q22	Long QT syndrome-11 [MIM:611820]
AKR1B1	aldo-keto reductase family 1, member B1 (aldose reductase)	7q35	mutations
AKR1C2	aldo-keto reductase family 1, member C2	10p15-p14	Obesity, hyperphagia, and developmental delay
AKR1C3	aldo-keto reductase family 1, member C3	10p15-p14	mutations
AKR1C4	aldo-keto reductase family 1, member C4	10p15-p14	mutations
AKR1D1	aldo-keto reductase family 1, member D1	7q32-q33	Bile acid synthesis defect, congenital, 2 [MIM:235555]
AKR7A2	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	?	mutations
AKR7A3	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	?	mutations
AKT1	v-akt murine thymoma viral oncogene homolog 1	14q32.3	Breast cancer, somatic [MIM:114480] Colorectal cancer, somatic [MIM:114500] Ovarian cancer, somatic [MIM:604370] Schizophrenia, susceptibility to [MIM:181500]
AKT2	v-akt murine thymoma viral oncogene homolog 2	19q13.1-q13.2	Diabetes mellitus, type II [MIM:125853]
AKT3	v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma)	1q44	mutations
ALAD	aminolevulinate dehydratase	9q34	Porphyria, acute hepatic [MIM:612740] Lead poisoning, susceptibility to [MIM:612740]
ALAS2	aminolevulinate, delta-, synthase 2	Xp11.21	Anemia, sideroblastic, X-linked [MIM:300751] Protoporphyria, erythropoietic, X-linked dominant [MIM:300752]
ALB	albumin	4q11-q13	Analbuminemia Dysalbuminemic hyperthyroxinemia Dysalbuminemic hyperzincemia [MIM:194470]
ALCAM	activated leukocyte cell adhesion molecule	3q13.1-q13.2	mutations
ALDH16A1	aldehyde dehydrogenase 16 family, member A1	19q13.33	mutations
ALDH18A1	aldehyde dehydrogenase 18 family, member A1	10q24.3	Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities [MIM:612652]
ALDH1A1	aldehyde dehydrogenase 1 family, member A1	9q21	mutations
ALDH1A2	aldehyde dehydrogenase 1 family, member A2	15	mutations
ALDH2	aldehyde dehydrogenase 2 family (mitochondrial)	12q24.2	Alcohol sensitivity, acute [MIM:610251] Hangover, susceptibility to [MIM:610251] Sublingual nitroglycerin, susceptibility to poor response to Esophageal cancer, alcohol-related, susceptibility to (3) 4
ALDH3A2	aldehyde dehydrogenase 3 family, member A2	17p11.2	Sjogren-Larsson syndrome [MIM:270200]
ALDH4A1	aldehyde dehydrogenase 4 family, member A1	1p36	Hyperprolinemia, type II [MIM:239510]
ALDH5A1	aldehyde dehydrogenase 5 family, member A1	6p22	Succinic semialdehyde dehydrogenase deficiency [MIM:271980]
ALDH6A1	aldehyde dehydrogenase 6 family, member A1	14q24.3	Methylmalonate semialdehyde dehydrogenase deficiency
ALDH7A1	aldehyde dehydrogenase 7 family, member A1	5q31	Epilepsy, pyridoxine-dependent [MIM:266100]
ALDOA	aldolase A, fructose-bisphosphate	16p11.2	Glycogen storage disease XII [MIM:611881]
ALDOB	aldolase B, fructose-bisphosphate	9q22.3	Fructose intolerance [MIM:229600]
ALG10B	asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)	?	mutations
ALG10	asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)	12p11.1	Acquired long QT syndrome, reduced susceptibility to [MIM:152427]
ALG11	ALG11, alpha-1,2-mannosyltransferase	13q14.3	Congenital disorder of glycosylation, type Ip [MIM:613661]
ALG12	ALG12, alpha-1,6-mannosyltransferase	22q13.33	Congenital disorder of glycosylation, type Ig [MIM:607143]
ALG13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	Xq23	mutations
ALG1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	16p13.3	Congenital disorder of glycosylation, type Ik [MIM:608540]
ALG2	ALG2, alpha-1,3/1,6-mannosyltransferase	9q22	Congenital disorder of glycosylation, type Ii [MIM:607906]
ALG3	ALG3, alpha-1,3- mannosyltransferase	3q27	Congenital disorder of glycosylation, type Id [MIM:601110]
ALG6	asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)	1p22.3	Congenital disorder of glycosylation, type Ic [MIM:603147]
ALG8	asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)	11pter-p15.5	Congenital disorder of glycosylation, type Ih [MIM:608104]
ALG9	ALG9, alpha-1,2-mannosyltransferase	11q23	Congenital disorder of glycosylation, type Il [MIM:608776]
ALK	anaplastic lymphoma receptor tyrosine kinase	2p23	Neuroblastoma, susceptibility to, 3 [MIM:613014]
ALL1	Leukemia, acute lymphocytic, susceptibility to, 1	10q21	Leukemia, acute lymphocytic, susceptibility to, 1
ALL2	Leukemia, acute lymphoblastic, susceptibility to, 2	7p12.2	Leukemia, acute lymphoblastic, susceptibility to, 2
ALMS1	Alstrom syndrome 1	2p13	Alstrom syndrome [MIM:203800]
ALOX12B	arachidonate 12-lipoxygenase, 12R type	17p13.1	Ichthyosiform erythroderma, congenital, nonbullous, 1 [MIM:242100]
ALOX12	arachidonate 12-lipoxygenase	17p13.1	mutations
ALOX15	arachidonate 15-lipoxygenase	17p13.3	mutations
ALOX5AP	arachidonate 5-lipoxygenase-activating protein	13q12	Stroke, susceptibility to [MIM:601367]
ALOX5	arachidonate 5-lipoxygenase	10q11.2	Atherosclerosis, susceptibility to Asthma, diminished response to antileukotriene treatment in [MIM:600807]
ALOXE3	arachidonate lipoxygenase 3	17p13.1	Ichthyosiform erythroderma, congenital, nonbullous, 1 [MIM:242100]
ALPL	alkaline phosphatase, liver/bone/kidney	1p36.1-p34	Hypophosphatasia, infantile [MIM:241500] Hypophosphatasia, childhood [MIM:241510] Odontohypophosphatasia [MIM:146300] Hypophosphatasia, adult [MIM:146300]
ALPQTL1	Alkaline phosphatase, plasma level of, QTL1	9q34.13	Alkaline phosphatase, plasma level of, QTL1
ALPQTL2	Alkaline phosphatase, plasma level of, QTL 2	1p36	Alkaline phosphatase, plasma level of, QTL 2
ALPQTL3	Alkaline phosphatase, plasma level of, QTL3	6p22	Alkaline phosphatase, plasma level of, QTL3
ALPQTL4	Alkaline phosphatase, plasma level of, QTL4	10q21	Alkaline phosphatase, plasma level of, QTL4
ALS2CL	ALS2 C-terminal like	3p21.31	mutations
ALS2	amyotrophic lateral sclerosis 2 (juvenile)	2q33	Amyotrophic lateral sclerosis, juvenile [MIM:205100] Primary lateral sclerosis, juvenile [MIM:606353] Spastic paralysis, infantile onset ascending [MIM:607225]
ALS3	amyotrophic lateral sclerosis 3 (autosomal dominant)	18q21	Amyotrophic lateral sclerosis 3
ALS5	amyotrophic lateral sclerosis 5	15q15.1-q21.1	Amyotrophic lateral sclerosis-5, juvenile recessive
ALS7	amyotrophic lateral sclerosis 7	20p13	Amyotrophic lateral sclerosis 7
ALX1	ALX homeobox 1	12q21.3-q22	Frontonasal dysplasia 3 [MIM:613456]
ALX3	ALX homeobox 3	1p21-p13	Frontorhiny [MIM:136760]
ALX4	ALX homeobox 4	11p11.2	Parietal foramina 2 [MIM:609597] Frontonasal dysplasia 2 [MIM:613451]
AMACR	alpha-methylacyl-CoA racemase	5p13.2-q11.1	Alpha-methylacyl-CoA racemase deficiency Bile acid synthesis defect, congenital, 4 [MIM:214950]
AMCD2B	arthrogryposis multiplex congenita, distal, type 2B	11p15.5	Arthyrgryposis, distal, type 2B [MIM:601680]
AMCN	arthrogryposis multiplex congenita, neurogenic	5q35	Arthrogryposis multiplex congenita, neurogenic
AMELX	amelogenin, X-linked	Xp22.3-p22.1	Amelogenesis imperfecta, hypoplastic/hypomaturation type [MIM:301200]
AMELY	amelogenin, Y-linked	Yp11	mutations
AMER1	APC membrane recruitment protein 1	Xq11.1	Osteopathia striata with cranial sclerosis [MIM:300373]
AMHR2	anti-Mullerian hormone receptor, type II	12q13	Persistent Mullerian duct syndrome, type II [MIM:261550]
AMH	anti-Mullerian hormone	19p13.3-p13.2	Persistent Mullerian duct syndrome, type I [MIM:261550]
AMLCR2	acute myeloid leukemia chromosome region 2	16q22	Leukemia, acute myelogenous [MIM:601626]
AMMEC	Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis	Xq22.3	Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
AMN	amnion associated transmembrane protein	14q32	Megaloblastic anemia-1, Norwegian type [MIM:261100]
AMPD1	adenosine monophosphate deaminase 1	1p21-p13	Myoadenylate deaminase deficiency
AMPD3	adenosine monophosphate deaminase 3	11pter-p13	AMP deaminase deficiency, erythrocytic [MIM:612874]
AMRS	Alopecia-mental retardation syndrome	3q26.3-q27.3	Alopecia with mental retardation syndrome 1
AMT	aminomethyltransferase	3p21.2-p21.1	Glycine encephalopathy [MIM:605899]
ANAPC1	anaphase promoting complex subunit 1	?	mutations
ANBC	Aneurysmal bone cysts	16q22	Aneurysmal bone cysts
ANCR	Angelman syndrome chromosome region	15q11-q13	Angelman syndrome [MIM:105830]
ANC	Anal canal carcinoma	11q22-qter	Anal canal carcinoma
ANGPT1	angiopoietin 1	8q22	mutations
ANGPT2	angiopoietin 2	8p23	mutations
ANGPTL3	angiopoietin-like 3	1p31	Hypobetalipoproteinemia, familial, 2 [MIM:605019]
ANGPTL4	angiopoietin-like 4	19p13.3	Reduced triglycerides, susceptibility to
ANGPTL5	angiopoietin-like 5	11q22	mutations
ANG	angiogenin, ribonuclease, RNase A family, 5	14q11.2	Amyotrophic lateral sclerosis 9 [MIM:611895]
ANIB10	Aneurysm, intracranial berry, 10	8q12.1	Aneurysm, intracranial berry, 10
ANIB1	aneurysm, intracranial berry 1	7q11.2	Aneurysm, intracranial berry, 1
ANIB2	aneurysm, intracranial berry 2	19q13	Aneurysm, intracranial berry, 2
ANIB3	aneurysm, intracranial berry 3	1p36.13-p34.3	Aneurysm, intracranial berry, 3
ANIB4	aneurysm, intracranial berry 4	5p15.2-p14.3	Aneurysm, intracranial berry, 4
ANIB5	Aneurysm, intracranial berry, 5	2p15-q14	Aneurysm, intracranial berry, 5
ANIB6	Aneurysm, intracranial berry, 6	9p21	Aneurysm, intracranial berry, 6
ANIB7	Aneurysm, intracranial berry, 7	11q24-q25	Aneurysm, intracranial berry, 7
ANIB8	Aneurysm, intracranial berry, 8	14q23	Aneurysm, intracranial berry, 8
ANIB9	Aneurysm, intracranial berry, 9	2q33.1	Aneurysm, intracranial berry, 9
ANIC	Anosmia, isolated congenital	18p11.23-q12.2	Anosmia, isolated congenital
ANK1	ankyrin 1, erythrocytic	8p11.2	Spherocytosis, type 1 [MIM:182900]
ANK2	ankyrin 2, neuronal	4q25-q27	Long QT syndrome-4 [MIM:600919] Cardiac arrhythmia, ankyrin-B-related [MIM:600919]
ANK3	ankyrin 3, node of Ranvier (ankyrin G)	10q21	mutations
ANKH	ankylosis, progressive homolog (mouse)	5p15.2-p14.1	Craniometaphyseal dysplasia [MIM:123000] Chondrocalcinosis 2 [MIM:118600]
ANKK1	ankyrin repeat and kinase domain containing 1	11q23.2	Dopamine receptor D2, reduced brain density of
ANKLE1	ankyrin repeat and LEM domain containing 1	?	mutations
ANKRD11	ankyrin repeat domain 11	16q24.3	mutations
ANKRD1	ankyrin repeat domain 1 (cardiac muscle)	?	mutations
ANKRD26	ankyrin repeat domain 26	10p12.1	mutations
ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	6p21.3	mutations
ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	12q23.1	mutations
ANMA	Anisomastia	16q13-q21	Anisomastia
ANO10	anoctamin 10	3p22.1	mutations
ANO5	anoctamin 5	11p14.3	Gnathodiaphyseal dysplasia [MIM:166260] Muscular dystrophy, limb-girdle, type 2L [MIM:611307] Miyoshi muscular dystrophy 3 [MIM:613319]
ANO6	anoctamin 6	12q12	Scott syndrome [MIM:262890]
ANO7	anoctamin 7	2q37.3	mutations
ANON1	Anorexia nervosa, susceptibility to, 1	1p	Anorexia nervosa, susceptibility to
ANOP1	anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities)	Xq27-q28	Microphthalmia, syndromic 4
ANTXR1	anthrax toxin receptor 1	2p13.1	Hemangioma, capillary infantile, susceptibility to [MIM:602089]
ANTXR2	anthrax toxin receptor 2	4q21	Fibromatosis, juvenile hyaline [MIM:228600] Hyalinosis, infantile systemic [MIM:236490]
ANXA11	annexin A11	10q22.3-q23.1	mutations
ANXA5	annexin A5	4q26-q28	mutations
AN	blood group Ahonen	?	mutations
AOAH	acyloxyacyl hydrolase (neutrophil)	7p14-p12	mutations
AOCH	Acromegaloid features, overgrowth, cleft palate, and hernia	11	Acromegaloid features, overgrowth, cleft palate, and hernia
AOMS1	Abdominal obesity-metabolic syndrome QTL1	3q27	Abdominal obesity-metabolic syndrome
AOMS2	abdominal obesity-metabolic syndrome QTL2	17p12	Abdominal obesity-metabolic syndrome
AOX1	aldehyde oxidase 1	2q33	mutations
AP1S1	adaptor-related protein complex 1, sigma 1 subunit	7q22.1	mutations
AP1S2	adaptor-related protein complex 1, sigma 2 subunit	Xp22	Mental retardation, X-linked 59 [MIM:300630]
AP3B1	adaptor-related protein complex 3, beta 1 subunit	5q14.1	Hermansky-Pudlak syndrome 2 [MIM:608233]
AP3B2	adaptor-related protein complex 3, beta 2 subunit	15q	mutations
AP4B1	adaptor-related protein complex 4, beta 1 subunit	1p13.2	mutations
AP4E1	adaptor-related protein complex 4, epsilon 1 subunit	15q21.2	mutations
AP4M1	adaptor-related protein complex 4, mu 1 subunit	7q22.1	Cerebral palsy, spastic quadriplegic, 3 [MIM:612936]
AP4S1	adaptor-related protein complex 4, sigma 1 subunit	14q12	mutations
AP5Z1	adaptor-related protein complex 5, zeta 1 subunit	7p22.1	Spastic paraplegia 48, autosomal recessive [MIM:613647]
APAF1	apoptotic peptidase activating factor 1	12q23	mutations
APBA2	amyloid beta (A4) precursor protein-binding, family A, member 2	15q	mutations
APBB1	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	11p15	mutations
APBB2	amyloid beta (A4) precursor protein-binding, family B, member 2	4p14	Alzheimer disease, late-onset [MIM:104300]
APBB3	amyloid beta (A4) precursor protein-binding, family B, member 3	5q31	mutations
APCDD1	adenomatosis polyposis coli down-regulated 1	18p11	mutations
APCS	amyloid P component, serum	1q21-q23	Amyloidosis, secondary, susceptibility to
APC	adenomatous polyposis coli	5q21-q22	Adenomatous polyposis coli [MIM:175100] Gastric cancer, somatic [MIM:613659] Adenoma, periampullary, somatic Hepatoblastoma, somatic [MIM:114550] Desmoid disease, hereditary [MIM:135290] Gardner syndrome Colorectal cancer, somatic [MIM:114500] Brain tumor-polyposis syndrome 2
APEX1	APEX nuclease (multifunctional DNA repair enzyme) 1	14q12	mutations
APH1A	anterior pharynx defective 1 homolog A (C. elegans)	1p36.13-q31.3	mutations
APH1B	anterior pharynx defective 1 homolog B (C. elegans)	15q22.2	mutations
APLNR	apelin receptor	11q12	mutations
APMR2	Alopecia with mental retardation syndrome 2	3q26.2-q26.31	Alopecia with mental retardation syndrome 2
APOA1	apolipoprotein A-I	11q23	ApoA-I and apoC-III deficiency, combined Hypoalphalipoproteinemia [MIM:604091] Corneal clouding, autosomal recessive Amyloidosis, 3 or more types [MIM:105200]
APOA2	apolipoprotein A-II	1q21-q23	Apolipoprotein A-II deficiency Hypercholesterolemia, familial, modification of [MIM:143890]
APOA4	apolipoprotein A-IV	11q23	mutations
APOA5	apolipoprotein A-V	11q23	Hypertriglyceridemia, susceptibility to [MIM:145750] Hyperchylomicronemia, late-onset [MIM:144650]
APOBEC3B	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	22q13	mutations
APOBEC3G	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	22q12-q13.2	mutations
APOBEC3H	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	22q13.1	mutations
APOB	apolipoprotein B (including Ag(x) antigen)	2p24	Hypobetalipoproteinemia Hypobetalipoproteinemia, normotriglyceridemic Hypercholesterolemia, due to ligand-defective apo B [MIM:144010]
APOC1	apolipoprotein C-I	19q13.2	mutations
APOC2	apolipoprotein C-II	19q13.2	Hyperlipoproteinemia, type Ib [MIM:207750]
APOC3	apolipoprotein C-III	11q23	Apolipoprotein C3 deficiency
APOC4	apolipoprotein C-IV	19q13.2	mutations
APOD	apolipoprotein D	3q26.2-qter	mutations
APOE	apolipoprotein E	19q13.2	Hyperlipoproteinemia, type III Myocardial infarction susceptibility Sea-blue histiocyte disease [MIM:269600] Alzheimer disease-2 [MIM:104310] Macular degeneration, age-related [MIM:603075] Lipoprotein glomerulopathy [MIM:611771]
APOH	apolipoprotein H (beta-2-glycoprotein I)	17q23-qter	deficiency of production of apo-H dependent antiphospholipid autoantibody
APOL1	apolipoprotein L, 1	22q12.3	Glomerulosclerosis, focal segmental, 4, susceptibility to [MIM:612551] End-stage renal disease, nondiabetic, susceptibility to [MIM:612551]
APOL2	apolipoprotein L, 2	22q12.3	Schizophrenia [MIM:181500]
APOL3	apolipoprotein L, 3	22q12.3	mutations
APOL4	apolipoprotein L, 4	22q12.3	Schizophrenia [MIM:181500]
APOM	apolipoprotein M	?	mutations
APP	amyloid beta (A4) precursor protein	21q21	Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants [MIM:605714] Alzheimer disease 1, familial [MIM:104300] Dementia, early-onset progressive, autosomal recessive
APRT	adenine phosphoribosyltransferase	16q24.3	Urolithiasis, 2,8-dihydroxyadenine
APTX	aprataxin	9p13.3	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [MIM:208920] Coenzyme Q10 deficiency [MIM:607426]
AQP1	aquaporin 1 (Colton blood group)	7p14	Blood group, Colton [MIM:110450] Aquaporin-1 deficiency
AQP2	aquaporin 2 (collecting duct)	12q13	Diabetes insipidus, nephrogenic [MIM:125800]
AQP3	aquaporin 3 (Gill blood group)	9p13	Blood group GIL [MIM:607457]
AQP4	aquaporin 4	18q11.2-q12.1	mutations
AQP5	aquaporin 5	12q13	mutations
AQP7	aquaporin 7	9p13	mutations
AQP9	aquaporin 9	15q22	Glycerol release during exercise, defective
ARCC1	Age-related cortical cataract 1	6p12-q12	Cataract, age-related cortical, susceptibility to
ARCODS	Ariculocondylar syndrome	1p21.1-q23.3	Ariculocondylar syndrome
ARC	activity-regulated cytoskeleton-associated protein	8q24	mutations
ARF4	ADP-ribosylation factor 4	3p14.1	mutations
ARFGEF2	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	20q13.13	Periventricular heterotopia with microcephaly [MIM:608097]
ARG1	arginase, liver	6q23	Argininemia [MIM:207800]
ARHGAP24	Rho GTPase activating protein 24	4q21	mutations
ARHGAP26	Rho GTPase activating protein 26	5q31	Leukemia, juvenile myelomonocytic [MIM:607785]
ARHGAP29	Rho GTPase activating protein 29	1p22.1	mutations
ARHGAP31	Rho GTPase activating protein 31	3q13.3	mutations
ARHGAP6	Rho GTPase activating protein 6	Xp22.3	mutations
ARHGAP9	Rho GTPase activating protein 9	12q14	Coronary artery spasm 3, susceptibility to
ARHGEF10	Rho guanine nucleotide exchange factor (GEF) 10	8p23	Slowed nerve conduction velocity, AD [MIM:608236]
ARHGEF11	Rho guanine nucleotide exchange factor (GEF) 11	?	mutations
ARHGEF12	Rho guanine nucleotide exchange factor (GEF) 12	11q23.3	Leukemia, acute myeloid [MIM:601626]
ARHGEF4	Rho guanine nucleotide exchange factor (GEF) 4	2q22	mutations
ARHGEF6	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	Xq26	Mental retardation, X-linked nonspecific, type 46 [MIM:300436]
ARHGEF7	Rho guanine nucleotide exchange factor (GEF) 7	13q34	mutations
ARHGEF9	Cdc42 guanine nucleotide exchange factor (GEF) 9	Xq22.1	Epileptic encephalopathy, early infantile, 8 [MIM:300607]
ARHI1	Age-related hearing impairment 1	8q24.13-q24.22	Age-related hearing impairment 1
ARHI2	Age-related hearing impairment 2	3p26.1-p25.1	Age-related hearing impairment 2
ARID1A	AT rich interactive domain 1A (SWI-like)	1p36.1-p35	mutations
ARID1B	AT rich interactive domain 1B (SWI1-like)	?	mutations
ARIH1	ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)	15q24	mutations
ARL11	ADP-ribosylation factor-like 11	13q14.3	mutations
ARL13B	ADP-ribosylation factor-like 13B	3q11.2	Joubert syndrome 8 [MIM:612291]
ARL6IP5	ADP-ribosylation-like factor 6 interacting protein 5	3p14	mutations
ARL6	ADP-ribosylation factor-like 6	3p12-q13	Bardet-Biedl syndrome 3 [MIM:209900] Bardet-Biedl syndrome 1, modifier of [MIM:209900] Retinitis pigmentosa 55 [MIM:613575]
ARMS2	age-related maculopathy susceptibility 2	10q26.13	Macular degeneration, age-related, 8
ARNT	aryl hydrocarbon receptor nuclear translocator	1q21	Leukemia, acute myeloblastic
ARPC3	actin related protein 2/3 complex, subunit 3, 21kDa	?	mutations
ARSA	arylsulfatase A	22q13.31-qter	Metachromatic leukodystrophy [MIM:250100]
ARSB	arylsulfatase B	5q11-q13	Mucopolysaccharidosis type VI (Maroteaux-Lamy) [MIM:253200]
ARSE	arylsulfatase E (chondrodysplasia punctata 1)	Xp22.3	Chondrodysplasia punctata, X-linked recessive [MIM:302950]
ARSF	arylsulfatase F	Xp22.3	mutations
ART4	ADP-ribosyltransferase 4 (Dombrock blood group)	12p13-p12	Blood group, Dombrock
ARVCF	armadillo repeat gene deleted in velocardiofacial syndrome	22q11	mutations
ARVD1	arrhythmogenic right ventricular dysplasia 1	14q12-q22	Arrhythmogenic right ventricular dysplasia-3
ARVD3	arrhythmogenic right ventricular dysplasia 3	14q12-q22	Arrhythmogenic right ventricular dysplasia-3
ARVD4	arrhythmogenic right ventricular dysplasia 4	2q32.1-q32.3	Arrhythmogenic right ventricular dysplasia-4
ARVD5	arrhythmogenic right ventricular dysplasia 5	3p25	Arrhythmogenic right ventricular dysplasia, familial, 5 [MIM:604400]
ARVD6	arrhythmogenic right ventricular dysplasia 6	10p14-p12	Arrhythmogenic right ventricular dysplasia-6
ARX	aristaless related homeobox	Xp22.13	Epileptic encephalopathy, early infantile, 1 [MIM:308350] Lissencephaly, X-linked 2 [MIM:300215] Mental retardation, X-linked 36/43/54 [MIM:300419] Proud syndrome [MIM:300004] Partington syndrome [MIM:309510] Hydranencephaly with abnormal genitalia [MIM:300215]
AR	androgen receptor	Xq11-q12	Androgen insensitivity [MIM:300068] Spinal and bulbar muscular atrophy of Kennedy [MIM:313200] Androgen insensitivity, partial, with or without breast cancer [MIM:312300] Prostate cancer, susceptibility to [MIM:176807] Hypospadias 1, X-linked [MIM:300633]
AS3MT	arsenic (+3 oxidation state) methyltransferase	10q24	mutations
ASAH1	N-acylsphingosine amidohydrolase (acid ceramidase) 1	8p22-p21.3	Farber lipogranulomatosis [MIM:228000]
ASAH2	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	?	mutations
ASB10	ankyrin repeat and SOCS box containing 10	?	mutations
ASB1	ankyrin repeat and SOCS box containing 1	2q37	mutations
ASCC1	activating signal cointegrator 1 complex subunit 1	?	mutations
ASCC3	activating signal cointegrator 1 complex subunit 3	?	mutations
ASCL1	achaete-scute complex homolog 1 (Drosophila)	12q22-q23	Central hypoventilation syndrome, congenital [MIM:209880] Haddad syndrome [MIM:209880]
ASD1	atrial septal defect 1	5p	Atrial septal defect, secundum type
ASIP	agouti signaling protein	20q11.2	Skin/hair/eye pigmentation 9, dark/light hair [MIM:611742]
ASL	argininosuccinate lyase	7cen-q11.2	Argininosuccinic aciduria [MIM:207900]
ASMTL	acetylserotonin O-methyltransferase-like	Xpter-p22.32	mutations
ASMT	acetylserotonin O-methyltransferase	Xpter-p22.32	mutations
ASNS	asparagine synthetase (glutamine-hydrolyzing)	7q21-q31	mutations
ASPA	aspartoacylase	17pter-p13	Canavan disease [MIM:271900]
ASPG1	Asperger syndrome, susceptibility to, 1	3q25-q27	Asperger syndrome susceptibility 1
ASPG2	Asperger syndrome, susceptibility to, 2	17p13	Asperger syndrome susceptibility 2
ASPG3	Asperger syndrome, susceptibility to, 3	1q21-q22	Asperger syndrome susceptibility 3
ASPG4	Asperger syndrome, susceptibility to, 4	3p24-p21	Asperger syndrome susceptibility 4
ASPM	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1q31	Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern [MIM:608716]
ASPN	asporin	9q21.3-q22	Osteoarthritis susceptibility 3 [MIM:607850] Lumbar disc degeneration [MIM:603932]
ASPRV1	aspartic peptidase, retroviral-like 1	2p13.1	mutations
ASPSCR1	alveolar soft part sarcoma chromosome region, candidate 1	17q25	Alveolar soft-part sarcoma [MIM:606243]
ASRT3	Asthma-related traits, susceptibility to, 3	2p16	Asthma-related traits, susceptibility to, 3
ASRT4	Asthma-related traits, susceptibility to, 4	1p31	Asthma-related traits, susceptibility to, 4
ASRT6	Asthma-related traits, susceptibility to, 6	17q21	Asthma-related traits, susceptibility to, 6
ASRT8	Asthma-related traits, susceptibility to, 8	9q33	Asthma-related traits, susceptibility to, 8
ASS1	argininosuccinate synthase 1	9q34.1	Citrullinemia [MIM:215700]
ASTN2	astrotactin 2	9q33.1	mutations
ASXL1	additional sex combs like 1 (Drosophila)	20q11.21	mutations
ATCAY	ataxia, cerebellar, Cayman type	19p13.3	Ataxia, cerebellar, Cayman type [MIM:601238]
ATD	asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)	15q13	Asphyxiating thoracic dystrophy 1
ATF1	activating transcription factor 1	12q13	mutations
ATF3	activating transcription factor 3	1q32.3	mutations
ATF5	activating transcription factor 5	19q13.3	mutations
ATF6	activating transcription factor 6	1q22-q23	mutations
ATFB1	Atrial fibrillation, familial 1	10q22-q24	Atrial fibrillation, familial, 1
ATFB2	familial atrial fibrillation 2	6q14-q16	Atrial fibrillation, familial, 2
ATFB5	Atrial fibrillation, familial, 5	4q25	Atrial fibrillation, familial, 5
ATFB8	Atrial fibrillation, familial, 8	16q22	Atrial fibrillation, familial, 8
ATG16L1	autophagy related 16-like 1 (S. cerevisiae)	2q37.1	Inflammatory bowel disease 10 [MIM:611081]
ATG5	autophagy related 5	6q21	mutations
ATG7	autophagy related 7	?	mutations
ATHS	atherosclerosis susceptibility (lipoprotein associated)	19p13.3-p13.2	Atherosclerosis, susceptibility to
ATIC	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	2q35	AICA-ribosiduria due to ATIC deficiency [MIM:608688]
ATL1	atlastin GTPase 1	14q11-q21	Spastic paraplegia-3A [MIM:182600]
ATM	ataxia telangiectasia mutated	11q22.3	Ataxia-telangiectasia [MIM:208900] Lymphoma, B-cell non-Hodgkin, somatic Breast cancer, susceptibility to [MIM:114480] Lymphoma, mantle cell T-cell prolymphocytic leukemia, sporadic
ATN1	atrophin 1	12p13.31	Dentatorubro-pallidoluysian atrophy [MIM:125370]
ATOD3	Dermatitis, atopic, 3	20p	Dermatitis, atopic, susceptibility to, 3
ATOD5	Dermatitis, atopic, 5	13q12-q14	Dermatitis, atopic, susceptibility to, 5
ATOD6	Dermatitis, atopic, 6	5q31-q33	Dermatitis, atopic, susceptibility to, 6
ATOD7	Dermatitis, atopic, susceptibility to, 7	11q13.5	Dermatitis, atopic, susceptibility to, 7
ATOD	Dermatitis, atopic	3q21	Dermatitis, atopic, susceptibility to, 1
ATOH7	atonal homolog 7 (Drosophila)	10q21.3-q22.1	mutations
ATP10A	ATPase, class V, type 10A	15q11-q13	mutations
ATP10D	ATPase, class V, type 10D	?	mutations
ATP13A2	ATPase type 13A2	1p36	Parkinson disease 9 [MIM:606693]
ATP13A4	ATPase type 13A4	?	mutations
ATP1A2	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1q21-q23	Migraine, familial hemiplegic, 2 [MIM:602481] Alternating hemiplegia of childhood [MIM:104290] Migraine, familial basilar [MIM:602481]
ATP1A3	ATPase, Na+/K+ transporting, alpha 3 polypeptide	19q12-q13.2	Dystonia-12 [MIM:128235]
ATP1B1	ATPase, Na+/K+ transporting, beta 1 polypeptide	1q22-q25	Blood pressure regulation QTL [MIM:145500]
ATP2A1	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	16p12	Brody myopathy [MIM:601003]
ATP2A2	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	12q23-q24.1	Darier disease [MIM:124200] Acrokeratosis verruciformis [MIM:101900]
ATP2A3	ATPase, Ca++ transporting, ubiquitous	17p13.3	mutations
ATP2B2	ATPase, Ca++ transporting, plasma membrane 2	3p26-p25	Deafness, autosomal recessive 12, modifier of [MIM:601386]
ATP2B3	ATPase, Ca++ transporting, plasma membrane 3	Xq28	mutations
ATP2B4	ATPase, Ca++ transporting, plasma membrane 4	1q25-q32	mutations
ATP2C1	ATPase, Ca++ transporting, type 2C, member 1	3q21-q24	Hailey-Hailey disease [MIM:169600]
ATP5E	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit	20q13.3	mutations
ATP5SL	ATP5S-like	?	mutations
ATP6AP2	ATPase, H+ transporting, lysosomal accessory protein 2	Xp11.4	Mental retardation, X-linked, with epilepsy [MIM:300423]
ATP6V0A1	ATPase, H+ transporting, lysosomal V0 subunit a1	17q21	mutations
ATP6V0A2	ATPase, H+ transporting, lysosomal V0 subunit a2	12q24.3	Cutis laxa, autosomal recessive, type II [MIM:219200] Wrinkly skin syndrome [MIM:278250]
ATP6V0A4	ATPase, H+ transporting, lysosomal V0 subunit a4	7q33-q34	Renal tubular acidosis, distal, autosomal recessive [MIM:602722]
ATP6V1B1	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	2cen-q13	Renal tubular acidosis with deafness [MIM:267300]
ATP7A	ATPase, Cu++ transporting, alpha polypeptide	Xq12-q13	Menkes disease [MIM:309400] Occipital horn syndrome [MIM:304150] Spinal muscular atrophy, distal, X-linked 3 [MIM:300489]
ATP7B	ATPase, Cu++ transporting, beta polypeptide	13q14.3-q21.1	Wilson disease [MIM:277900]
ATP8A2	ATPase, aminophospholipid transporter, class I, type 8A, member 2	13q12	mutations
ATP8B1	ATPase, aminophospholipid transporter, class I, type 8B, member 1	18q21	Cholestasis, progressive familial intrahepatic 1 [MIM:211600] Cholestasis, benign recurrent intrahepatic [MIM:243300]
ATPAF2	ATP synthase mitochondrial F1 complex assembly factor 2	17p11.2	ATP synthase deficiency, nuclear-encoded [MIM:604273]
ATPLS	antiphospholipid syndrome, familial	6p21.3	Antiphospholipid syndrome, familial
ATRNL1	attractin-like 1	10q26	mutations
ATRX	alpha thalassemia/mental retardation syndrome X-linked	Xq13	Alpha-thalassemia/mental retardation syndrome [MIM:301040] Alpha-thalassemia myelodysplasia syndrome, somatic [MIM:300448] Mental retardation-hypotonic facies syndrome, X-linked [MIM:309580]
ATR	ataxia telangiectasia and Rad3 related	3q22-q24	Seckel syndrome 1 [MIM:210600]
ATXN10	ataxin 10	22q13	Spinocerebellar ataxia-10 [MIM:603516]
ATXN1	ataxin 1	6p23	Spinocerebellar ataxia-1 [MIM:164400]
ATXN2	ataxin 2	12q24	Spinocerebellar ataxia-2 [MIM:183090]
ATXN3L	ataxin 3-like	?	mutations
ATXN3	ataxin 3	14q24.3-q31	Machado-Joseph disease [MIM:109150]
ATXN7	ataxin 7	3p21.1-p12	Spinocerebellar ataxia-7 [MIM:164500]
ATXN8OS	ATXN8 opposite strand (non-protein coding)	13q21	Spinocerebellar ataxia 8 [MIM:608768]
ATXN8	ataxin 8	13q21	Spinocerebellar ataxia 8 [MIM:608768]
AUH	AU RNA binding protein/enoyl-CoA hydratase	9	3-methylglutaconic aciduria, type I [MIM:250950]
AUNX1	auditory neuropathy, X-linked recessive 1	Xq23-q27.3	Deafness, X-linked 5
AURKA	aurora kinase A	20q13.2-q13.3	Colon cancer, susceptibility to [MIM:114500]
AURKB	aurora kinase B	17p13.1	mutations
AURKC	aurora kinase C	19q13.43	Male infertility with large-headed, multiflagellar, polyploid spermatozoa [MIM:243060]
AUTS11	Autism, susceptibility to, 11	1q41-q42	Autism susceptibility 11
AUTS12	autism, susceptibility to, 12	21p13-q11	Autism susceptibility 12
AUTS13	autism, susceptibility to, 13	12q14.2	Autism susceptibility 13
AUTS14	autism, susceptibility to, 14	16p11.2	Autism susceptibility 14
AUTS1	autism susceptibility 1	7q22	Autism susceptibility 1
AUTS2	autism susceptibility candidate 2	7q11.2	mutations
AUTS3	Autism, susceptibility to, 3	13q14.2-q14.1	Autism susceptibility 3
AUTS5	Autism, susceptibility to, 5	2q	Autism susceptibility 5
AUTS6	Autism, susceptibility to, 6	17q11	Autism susceptibility 6
AUTS7	Autism, susceptibility to, 7	17q21	Autism susceptibility 7
AUTS8	Autism, susceptibility to, 8	3q25-q27	Autism susceptibility 8
AUTSX4	Autism, X-linked, susceptibility to, 4	Xp22.11	Autism susceptibility, X-linked 4
AVPR1A	arginine vasopressin receptor 1A	12q14-q15	mutations
AVPR1B	arginine vasopressin receptor 1B	1q32	mutations
AVPR2	arginine vasopressin receptor 2	Xq28	Diabetes insipidus, nephrogenic [MIM:304800] Nephrogenic syndrome of inappropriate antidiuresis [MIM:300539]
AVP	arginine vasopressin	20p13	Diabetes insipidus, neurohypophyseal [MIM:125700]
AVSD1	atrioventricular septal defect 1	1p31-p21	Atrioventricular canal defect [MIM:600309]
AXIN1	axin 1	16p13.3	Hepatocellular carcinoma, somatic [MIM:114550] Caudal duplication anomaly [MIM:607864]
AXIN2	axin 2	17q24	Colorectal cancer [MIM:114500] Oligodontia-colorectal cancer syndrome [MIM:608615]
AXL	AXL receptor tyrosine kinase	19q13.1-q13.2	mutations
AZF1	azoospermia factor 1	?	mutations
AZON	Azoospremia, nonobstructive	6p21.3	Azoospremia, nonobstructive
B2M	beta-2-microglobulin	15q21-q22	Hypoproteinemia, hypercatabolic [MIM:241600]
B3GALNT1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	3q25	Blood group, P system [MIM:111400] Urinary tract infection, susceptibility to
B3GALT6	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	?	mutations
B3GALTL	beta 1,3-galactosyltransferase-like	13q12.3	Peters-plus syndrome [MIM:261540]
B3GAT3	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	11q12-q13	mutations
B3GNT1	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	11	mutations
B3GNT3	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	19p	mutations
B4GALNT2	beta-1,4-N-acetyl-galactosaminyl transferase 2	17q21.2	Blood group, Sd system Blood group, Cad system
B4GALT1	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	9p13	Congenital disorder of glycosylation, type IId [MIM:607091]
B4GALT7	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	5q35.2-q35.3	Ehlers-Danlos syndrome, progeroid form [MIM:130070]
B6QTL1	Vitamin B6 plasma level QTL 1	1p36.12	Vitamin B6 plasma level QTL 1
B9D1	B9 protein domain 1	?	mutations
B9D2	B9 protein domain 2	19q13.2	mutations
BAALC	brain and acute leukemia, cytoplasmic	8q22.3	mutations
BAAT	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	9q22.3	Hypercholanemia, familial [MIM:607748]
BABAM1	BRISC and BRCA1 A complex member 1	19p13.11	mutations
BACE1	beta-site APP-cleaving enzyme 1	11q23.3	mutations
BAG3	BCL2-associated athanogene 3	10q25.2-q26.2	Myopathy, myofibrillar, BAG3-related [MIM:612954]
BAG6	BCL2-associated athanogene 6	6p21.3	mutations
BANF1	barrier to autointegration factor 1	11	mutations
BANK1	B-cell scaffold protein with ankyrin repeats 1	4q22-q24	Systemic lupus erythematosus, association with [MIM:152700]
BAP1	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	3p21.3	mutations
BARD1	BRCA1 associated RING domain 1	2q34-q35	Breast cancer, susceptibility to [MIM:114480]
BAS	Beta-adrenergic stimulation, response to	21	mutations
BAX	BCL2-associated X protein	19q13.3-q13.4	Colorectal cancer T-cell acute lymphoblastic leukemia
BBS10	Bardet-Biedl syndrome 10	12q21.2	Bardet-Biedl syndrome 10 [MIM:209900]
BBS12	Bardet-Biedl syndrome 12	4q27	Bardet-Biedl syndrome 12 [MIM:209900]
BBS1	Bardet-Biedl syndrome 1	11q13	Bardet-Biedl syndrome 1 [MIM:209900]
BBS2	Bardet-Biedl syndrome 2	16q21	Bardet-Biedl syndrome 2 [MIM:209900]
BBS4	Bardet-Biedl syndrome 4	15q22.3-q23	Bardet-Biedl syndrome 4 [MIM:209900]
BBS5	Bardet-Biedl syndrome 5	2q31	Bardet-Biedl syndrome 5 [MIM:209900]
BBS7	Bardet-Biedl syndrome 7	4q27	Bardet-Biedl syndrome 7 [MIM:209900]
BBS9	Bardet-Biedl syndrome 9	7p14	Bardet-Biedl syndrome 9 [MIM:209900]
BCAM	basal cell adhesion molecule (Lutheran blood group)	19q13.2	Blood group, Lutheran system [MIM:111200] Blood group, Auberger system [MIM:111200] Blood group, Lutheran null [MIM:247420]
BCAP31	B-cell receptor-associated protein 31	Xq28	mutations
BCAT1	branched chain amino-acid transaminase 1, cytosolic	12p12	Hyperleucinemia-isoleucinemia or hypervalinemia
BCAT2	branched chain amino-acid transaminase 2, mitochondrial	19q13	Hypervalinemia or hyperleucine-isoleucinemia
BCC1	Basal cell carcinoma, susceptibility to, 1	1p36	Basal cell carcinoma, susceptibility to, 1
BCC2	Basal cell carcinoma, susceptibility to, 2	1q42	Basal cell carcinoma, susceptibility to, 2
BCC3	Basal cell carcinoma, susceptibility to, 3	5p15.33	Basal cell carcinoma, susceptibility to, 3
BCC4	Basal cell carcinoma, susceptibility to, 4	12q13	Basal cell carcinoma, susceptibility to, 4
BCC5	Basal cell carcinoma, susceptibility to, 5	9p21	Basal cell carcinoma, susceptibility to, 5
BCC6	Basal cell carcinoma, susceptibility to, 6	7q32	Basal cell carcinoma, susceptibility to, 6
BCHE	butyrylcholinesterase	3q26.1-q26.2	Apnea, postanesthetic
BCKDHA	branched chain keto acid dehydrogenase E1, alpha polypeptide	19q13.1-q13.2	Maple syrup urine disease, type Ia [MIM:248600]
BCKDHB	branched chain keto acid dehydrogenase E1, beta polypeptide	6q14	Maple syrup urine disease, type Ib [MIM:248600]
BCKDK	branched chain ketoacid dehydrogenase kinase	?	mutations
BCL10	B-cell CLL/lymphoma 10	1p22	Lymphoma, MALT Lymphoma, follicular Mesothelioma Germ cell tumor Sezary syndrome Colon cancer
BCL11A	B-cell CLL/lymphoma 11A (zinc finger protein)	2p16.1	mutations
BCL2A1	BCL2-related protein A1	15q24.3	mutations
BCL2L11	BCL2-like 11 (apoptosis facilitator)	2q12-q13	mutations
BCL2L2	BCL2-like 2	14q11.2-q12	mutations
BCL2	B-cell CLL/lymphoma 2	18q21.3	Leukemia/lymphoma, B-cell, 2
BCL3	B-cell CLL/lymphoma 3	19q13	Leukemia/lymphoma, B-cell, 3
BCL5	B-cell CLL/lymphoma 5	17q22	B cell prolymphocytic acute agressive leukemia with translocation t(8;17)(q24;q22),see MYC
BCL6	B-cell CLL/lymphoma 6	3q27	Lymphoma, B-cell
BCL7A	B-cell CLL/lymphoma 7A	12q24.1	B-cell non-Hodgkin lymphoma, high-grade
BCL9L	B-cell CLL/lymphoma 9-like	11q23.3	mutations
BCL9	B-cell CLL/lymphoma 9	1q21	B-cell CLL ,chronic lymphocytic leukemia with translocation t(1;14)(q21;q32),t(1;22)(q21;q11)
BCMO1	beta-carotene 15,15'-monooxygenase 1	16q21-q23	Hypercarotenemia and vitamin A deficiency, autosomal dominant [MIM:115300]
BCORL1	BCL6 corepressor-like 1	Xq25-q26.1	mutations
BCOR	BCL6 corepressor	Xp11.4	Microphthalmia, syndromic 2 [MIM:300166]
BCPR	Breast cancer-related regulator of TP53	17p13.3	Breast cancer
BCR	breakpoint cluster region	22q11.21	Leukemia, chronic myeloid [MIM:608232] Leukemia, acute lymphocytic [MIM:613065]
BCS1L	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	2q33	Mitochondrial complex III deficiency [MIM:124000] GRACILE syndrome [MIM:603358] Leigh syndrome [MIM:256000] Bjornstad syndrome [MIM:262000]
BDA1B	Brachydactyly, type A1, locus B	5p13.3-p13.2	Brachydactyly, type A1 [MIM:112500]
BDET	Bleeding disorder, east Texas type	1q23	Bleeding disorder, east Texas type
BDKRB2	bradykinin receptor B2	14q32.1-q32.2	mutations
BDNF	brain-derived neurotrophic factor	11p13	Memory impairment, susceptibility to Central hypoventilation syndrome, congenital [MIM:209880] Obsessive-compulsive disorder, protection against [MIM:164230] Bulimia nervosa, age of onset of weight loss in [MIM:607499] Anorexia nervosa, susceptibility to [MIM:606788]
BEAN1	brain expressed, associated with NEDD4, 1	16q21	Spinocerebellar ataxia 31 [MIM:117210]
BEST1	bestrophin 1	11q13	Best macular dystrophy [MIM:153700] Maculopathy, bull's-eye Vitelliform macular dystrophy, adult-onset [MIM:608161] Bestrophinopathy [MIM:611809] Vitreoretinochoroidopathy [MIM:193220] Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma [MIM:193220] Retinitis pigmentosa-50 [MIM:613194] Retinitis pigmentosa, concentric [MIM:613194]
BEX4	brain expressed, X-linked 4	Xq22.2	mutations
BFHD	Beukes familial hip dysplasia	4q35	Hip dysplasia, Beukes type
BFIC2	Benign familial infantile convulsions-2	16p12-q12	Convulsions, benign familial infantile, 2
BFIC4	Convulsions, benign familial infantile, 4	1p36.12-p35.1	Convulsions, benign familial infantile, 4
BFIC	benign familial infantile convulsions	19q	Convulsions, benign familial infantile
BFSP1	beaded filament structural protein 1, filensin	20p12.1-p11.23	Cataract, cortical, juvenile-onset [MIM:611391]
BFSP2	beaded filament structural protein 2, phakinin	3q21-q25	Cataract, juvenile-onset [MIM:604219] Cataract, congenital [MIM:604219] Cataract, autosomal dominant, multiple types 1 [MIM:611597]
BHLHA9	basic helix-loop-helix family, member a9	?	mutations
BHLHE41	basic helix-loop-helix family, member e41	12p12.1-p11.23	Short sleeper [MIM:612975]
BHMT	betaine--homocysteine S-methyltransferase	5q13.1-q13.2	mutations
BICC1	bicaudal C homolog 1 (Drosophila)	?	mutations
BICD1	bicaudal D homolog 1 (Drosophila)	12p11.2-p11.1	mutations
BIN1	bridging integrator 1	2q14	Myopathy, centronuclear, autosomal recessive [MIM:255200]
BIRC5	baculoviral IAP repeat containing 5	17q25	mutations
BLK	B lymphoid tyrosine kinase	8p23-p22	Maturity-onset diabetes of the young, type 11 [MIM:613375]
BLMH	bleomycin hydrolase	17q11.2	Alzheimer disease, susceptibility to [MIM:104300]
BLM	Bloom syndrome, RecQ helicase-like	15q26.1	Bloom syndrome [MIM:210900]
BLNK	B-cell linker	10q23.2	Agammaglobulinemia 4 [MIM:613502]
BLOC1S3	biogenesis of lysosomal organelles complex-1, subunit 3	19q13	Hermansky-Pudlak syndrome 8 [MIM:203300]
BLOC1S6	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	15q15	mutations
BLVRA	biliverdin reductase A	7p14-cen	mutations
BMI1	BMI1 polycomb ring finger oncogene	10p13	mutations
BMIQ13	Body mass index QTL13	2q14.1	Body mass index QTL13
BMIQ14	Body mass index QTL14	16q12.2	Body mass index QTL14
BMIQ15	Body mass index QTL 15	17q23.2-q25.1	Body mass index QTL 15
BMIQ1	body mass index QTL 1	7q32.3	Body mass index QTL1
BMIQ2	body mass index QTL 2	13q14	Body mass index QTL2
BMIQ3	body mass index QTL 3	6q23-q25	Body mass index QTL3
BMIQ5	body mass index QTL 5	16p13	Body mass index QTL5
BMIQ6	body mass index QTL 6	20pter-p11.2	Body mass index QTL6
BMIQ8	body mass index quantitative trait locus 8	10p	Obesity, susceptibility to, BMIQ8
BMND10	Bone mineral density QTL 10	8q24	Bone mineral density QTL 10
BMND11	Bone mineral density QTL 11	6q25	Bone mineral density QTL 11
BMND13	Bone mineral density QTL 13	16q23	Bone mineral density QTL 13
BMND14	Bone mineral density QTL 14	1p33-p32	Bone mineral density QTL 14
BMND2	Bone mineral density variation 2	1q21-q23	Bone mineral density QTL 2
BMND3	Bone mineral density variability 3	1p36	Bone mineral density QTL 3
BMND4	Bone mineral density variation QTL 4	Xq27	Bone mineral density QTL 4
BMND5	Bone mineral density variation QTL 5	11q23	Bone mineral density QTL 5
BMND6	Bone mineral density QTL 6	21q22.13-qter	Bone mineral density QTL 6
BMND7	Osteoporosis	20p12.3	Osteoporosis [MIM:166710]
BMND8	Osteoporosis	11p12	Osteoporosis [MIM:166710]
BMND9	Bone mineral density QTL 9	13q14	Bone mineral density QTL 9
BMP10	bone morphogenetic protein 10	?	mutations
BMP15	bone morphogenetic protein 15	Xp11.2	Ovarian dysgenesis 2 [MIM:300510] Premature ovarian failure 4 [MIM:300510]
BMP1	bone morphogenetic protein 1	8p21	mutations
BMP2K	BMP2 inducible kinase	?	mutations
BMP2	bone morphogenetic protein 2	20p12	HFE hemochromatosis, modifier of [MIM:235200]
BMP3	bone morphogenetic protein 3	4p14-q21	mutations
BMP4	bone morphogenetic protein 4	14q22-q23	Microphthalmia, syndromic 6 [MIM:607932] Orofacial cleft 11 [MIM:600625]
BMP5	bone morphogenetic protein 5	6p12.1	mutations
BMP7	bone morphogenetic protein 7	20q13.1-q13.3	mutations
BMPER	BMP binding endothelial regulator	?	mutations
BMPR1A	bone morphogenetic protein receptor, type IA	10q22.3	Polyposis, juvenile intestinal [MIM:174900] Polyposis syndrome, hereditary mixed, 2 [MIM:610069] Juvenile polyposis syndrome, infantile form [MIM:174900]
BMPR1B	bone morphogenetic protein receptor, type IB	4q23-q24	Brachydactyly, type A2 [MIM:112600] Chrondrodysplasia, acromesomelic, with genital anomalies [MIM:609441]
BMPR2	bone morphogenetic protein receptor, type II (serine/threonine kinase)	2q33	Pulmonary hypertension, familial primary [MIM:178600] Pulmonary venoocclusive disease [MIM:265450] Pulmonary hypertension, primary, fenfluramine-associated [MIM:178600]
BNC2	basonuclin 2	9p22.1	mutations
BOLA3	bolA homolog 3 (E. coli)	2p13.1	mutations
BOP	Polymicrogyria, bilateral occipital	6q16.3-q22.1	Polymicrogyria, bilateral occipital
BOS2	Branchiootic syndrome 2	1q31	Branchiootic syndrome 2
BP10	Blood pressure QTL 10	17q21.2	Osteogenesis imperfecta, type VI [MIM:610698]
BP28	Blood pressure QTL 28	3q27	Adiponectin deficiency [MIM:612556]
BP4	Blood pressure QTL 4	19q13.1-q13.2	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities [MIM:613177]
BP50	Blood pressure QTL 50	17q25.1	Nephrolithiasis/osteoporosis, hypophosphatemic, 2 [MIM:612287]
BP51	Blood pressure QTL 51	6p21.3-p21.2	Major depressive disorder and accelerated response to antidepressant drug treatment [MIM:608516]
BPGM	2,3-bisphosphoglycerate mutase	?	erythrocytosis
BPIFA1	BPI fold containing family A, member 1	20q11	mutations
BPI	bactericidal/permeability-increasing protein	20q11.23-q12	mutations
BPPV	vestibulopathy, familial	6q	Vestibulopathy, familial
BRAF	v-raf murine sarcoma viral oncogene homolog B1	7q34	Melanoma, malignant, somatic Colorectal cancer, somatic Adenocarcinoma of lung, somatic [MIM:211980] Nonsmall cell lung cancer, somatic Cardiofaciocutaneous syndrome [MIM:115150] Noonan syndrome 7 [MIM:613706] LEOPARD syndrome 3 [MIM:613707]
BRAP	BRCA1 associated protein	12q24	mutations
BRAT1	BRCA1-associated ATM activator 1	?	mutations
BRCA1	breast cancer 1, early onset	17q21	Breast-ovarian cancer, familial, 1 [MIM:604370] Pancreatic cancer, susceptibility to, 4 (3) 11
BRCA2	breast cancer 2, early onset	13q12.3	Breast-ovarian cancer, familial, 2 [MIM:612555] Fanconi anemia, complementation group D1 [MIM:605724] Prostate cancer [MIM:176807] Breast cancer, male, susceptibility to [MIM:114480] Wilms tumor [MIM:194070] Medulloblastoma [MIM:155255] Glioblastoma 3 [MIM:613029] Pre-B-cell acute lymphoblastic leukemia Pancreatic cancer [MIM:613347]
BRCA3	breast cancer 3	13q21	Breast cancer, type 3
BRCATA	Breast cancer, 11;22 translocation associated	11q23	Breast cancer, 11:22 translocation associated
BRCC3	BRCA1/BRCA2-containing complex, subunit 3	?	mutations
BRD1	bromodomain containing 1	22q13	mutations
BRIP1	BRCA1 interacting protein C-terminal helicase 1	17q22	Breast cancer, early-onset [MIM:114480] Fanconi anemia, complementation group J [MIM:609054]
BRKS	Telopeptide lysyl hydroxylase, bone-specific	17p12	Bruck syndrome 1
BRSK2	BR serine/threonine kinase 2	?	mutations
BRV2	Vertigo, benign recurrent, 2	22q12	Vertigo, benign recurrent, 2
BRWD1	bromodomain and WD repeat domain containing 1	?	mutations
BRWD3	bromodomain and WD repeat domain containing 3	Xq13	Mental retardation, X-linked 93 [MIM:300659]
BSCL2	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	11q13	Lipodystrophy, congenital generalized, type 2 [MIM:269700] Silver spastic paraplegia syndrome [MIM:270685] Neuropathy, distal hereditary motor, type V [MIM:600794]
BSG	basigin (Ok blood group)	19p13.3	Blood group, OK [MIM:111380]
BSND	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	1p31	Bartter syndrome, type 4a [MIM:602522] Sensorineural deafness with mild renal dysfunction [MIM:602522]
BST1	bone marrow stromal cell antigen 1	4p15.32	mutations
BSZQTL2	Bone size QTL	5q	Bone size QTL
BSZQTL3	Bone size quantitative trait locus 3	8q24	Bone size quantitative trait locus 3
BSZQTL	Bone size QTL	17q23	Bone size QTL
BTAF1	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)	10q22-q23	mutations
BTBD9	BTB (POZ) domain containing 9	6p21	mutations
BTC	betacellulin	4q13-q21	mutations
BTD	biotinidase	3p25	Biotinidase deficiency [MIM:253260]
BTK	Bruton agammaglobulinemia tyrosine kinase	Xq21.3-q22	Agammaglobulinemia, X-linked 1 [MIM:300755] Agammaglobulinemia and isolated hormone deficiency [MIM:307200]
BTLA	B and T lymphocyte associated	?	mutations
BTN1A1	butyrophilin, subfamily 1, member A1	6p22.1	mutations
BTN2A1	butyrophilin, subfamily 2, member A1	6p22.1	mutations
BTNL2	butyrophilin-like 2 (MHC class II associated)	6p21.3	Sarcoidosis, susceptibility to, 2 [MIM:612387]
BTRC	beta-transducin repeat containing E3 ubiquitin protein ligase	10q24-q25	mutations
BTS1	bladder tumor susceptibility 1	9q34.3	Joubert syndrome-1
BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	15q15	Colorectal cancer [MIM:114500] Mosaic variegated aneuploidy syndrome [MIM:257300] Premature chromatid separation trait [MIM:176430]
BUB1	BUB1 mitotic checkpoint serine/threonine kinase	2q14	Colorectal cancer with chromosomal instability
BULN	Bulimia nervosa, susceptibility to	10p	Bulimia nervosa, susceptibility to
BWQTL2	Birth weight QTL 2	3q25.3	Birth weight QTL 2
BZX	Bazex syndrome	Xq24-q27	Bazex syndrome
C10orf11	chromosome 10 open reading frame 11	?	mutations
C10orf137	chromosome 10 open reading frame 137	?	mutations
C10orf2	chromosome 10 open reading frame 2	10q24	Progressive external ophthalmoplegia, autosomal dominant, 3 [MIM:609286] Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) [MIM:271245]
C11orf65	chromosome 11 open reading frame 65	?	mutations
C11orf93	chromosome 11 open reading frame 93	?	mutations
C12orf10	chromosome 12 open reading frame 10	?	mutations
C12orf57	chromosome 12 open reading frame 57	?	mutations
C12orf65	chromosome 12 open reading frame 65	12q24.31	Combined oxidative phosphorylation deficiency 7 [MIM:613559]
C12orf66	chromosome 12 open reading frame 66	?	mutations
C15orf62	chromosome 15 open reading frame 62	?	mutations
C17orf53	chromosome 17 open reading frame 53	?	mutations
C19orf12	chromosome 19 open reading frame 12	?	mutations
C19orf48	chromosome 19 open reading frame 48	?	mutations
C1GALT1C1	C1GALT1-specific chaperone 1	Xq23	Tn syndrome [MIM:300622]
C1GALT1	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	7p14-p13	mutations
C1QA	complement component 1, q subcomponent, A chain	1p36.3-p34.1	C1q deficiency, type A
C1QB	complement component 1, q subcomponent, B chain	1p36.3-p34.1	C1q deficiency, type B
C1QC	complement component 1, q subcomponent, C chain	1p36.3-p34.1	C1q deficiency, type C
C1QTNF5	C1q and tumor necrosis factor related protein 5	11q23.3	Retinal degeneration, late-onset, autosomal dominant [MIM:605670]
C1R	complement component 1, r subcomponent	?	lupus systemic-like syndrome
C1S	complement component 1, s subcomponent	12p13	C1r/C1s deficiency, combined C1s deficiency, isolated
C1orf227	chromosome 1 open reading frame 227	?	mutations
C1orf54	chromosome 1 open reading frame 54	?	mutations
C20orf111	chromosome 20 open reading frame 111	?	mutations
C21orf91	chromosome 21 open reading frame 91	?	mutations
C22DDELS	Chromosome 22q11.2 deletion syndrome, distal	22q11.2	Chromosome 22q11.2 deletion syndrome, distal
C2CD3	C2 calcium-dependent domain containing 3	?	mutations
C2orf42	chromosome 2 open reading frame 42	?	mutations
C2orf71	chromosome 2 open reading frame 71	2p24.1-p23.1	Retinitis pigmentosa 54 [MIM:613428]
C2	complement component 2	?	Henoch-Schonlein purpura susceptibility,lupus systemic discoid syndrome,polymyositis susceptibility (C2 deficiency,type I)
C3AR1	complement component 3a receptor 1	?	mutations
C3	complement component 3	19p13.3-p13.2	C3 deficiency Macular degeneration, age-related, 9 [MIM:611378] Hemolytic uremic syndrome, atypical, susceptibility to, 5 [MIM:612925]
C4A	complement component 4A (Rodgers blood group)	6p21.3	C4 deficiency Blood group, Rodgers Systemic lupus erythematosus, susceptibility to or protection against [MIM:152700]
C4BPA	complement component 4 binding protein, alpha	1q32	mutations
C4B	complement component 4B (Chido blood group)	6p21.3	C4 deficiency
C4orf26	chromosome 4 open reading frame 26	?	mutations
C5orf42	chromosome 5 open reading frame 42	?	mutations
C5	complement component 5	9q34.1	C5 deficiency [MIM:609536] Liver fibrosis, susceptibility to
C6orf15	chromosome 6 open reading frame 15	?	mutations
C6	complement component 6	5p13	C6 deficiency [MIM:612446] Combined C6/C7 deficiency
C7orf10	chromosome 7 open reading frame 10	7p14	mutations
C7orf43	chromosome 7 open reading frame 43	?	mutations
C7	complement component 7	5p13	C7 deficiency [MIM:610102]
C8A	complement component 8, alpha polypeptide	1p32	C8 deficiency, type I
C8B	complement component 8, beta polypeptide	1p32	C8 deficiency, type II
C8orf37	chromosome 8 open reading frame 37	?	mutations
C9orf72	chromosome 9 open reading frame 72	?	mutations
C9	complement component 9	5p13	C9 deficiency C9 deficiency with dermatomyositis
CA12	carbonic anhydrase XII	15q22	Hyperchlorhidrosis, isolated [MIM:143860]
CA1	carbonic anhydrase I	8q22	mutations
CA2	carbonic anhydrase II	8q22	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis [MIM:259730]
CA4	carbonic anhydrase IV	17q23	Retinitis pigmentosa-17 [MIM:600852]
CA6	carbonic anhydrase VI	1p36.33-p36.22	mutations
CA8	carbonic anhydrase VIII	8q11-q12	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 [MIM:613227]
CABIN1	calcineurin binding protein 1	22q11.2	mutations
CABP2	calcium binding protein 2	11q13.1	mutations
CABP4	calcium binding protein 4	11q13.1	Night blindness, congenital stationary, type 2B [MIM:610427]
CACD	central areolar choroidal dystrophy	17p	Choroidal dystrophy, central areolar
CACHD1	cache domain containing 1	?	mutations
CACNA1A	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	19p13	Hemiplegic migraine, familial [MIM:141500] Episodic ataxia, type 2 [MIM:108500] Spinocerebellar ataxia-6 [MIM:183086] Cerebellar ataxia, pure
CACNA1C	calcium channel, voltage-dependent, L type, alpha 1C subunit	12p13.3	Timothy syndrome [MIM:601005] Brugada syndrome 3 [MIM:611875]
CACNA1D	calcium channel, voltage-dependent, L type, alpha 1D subunit	3p14.3	mutations
CACNA1E	calcium channel, voltage-dependent, R type, alpha 1E subunit	1q25-q31	mutations
CACNA1F	calcium channel, voltage-dependent, L type, alpha 1F subunit	Xp11.23	Night blindness, congenital stationary, X-linked, type 2A [MIM:300071] Cone-rod dystrophy, X-linked, 3 [MIM:300476] Aland Island eye disease [MIM:300600]
CACNA1G	calcium channel, voltage-dependent, T type, alpha 1G subunit	17q22	mutations
CACNA1H	calcium channel, voltage-dependent, T type, alpha 1H subunit	16p13.3	Epilepsy, idiopathic generalized, susceptibility to, 6 [MIM:611942] Epilepsy, childhood absence, susceptibility to, 6 [MIM:611942]
CACNA1S	calcium channel, voltage-dependent, L type, alpha 1S subunit	1q32	Hypokalemic periodic paralysis, type 1 [MIM:170400] Malignant hyperthermia susceptibility 5 [MIM:601887] Thyrotoxic periodic paralysis, susceptibility to, 1 [MIM:188580]
CACNA2D1	calcium channel, voltage-dependent, alpha 2/delta subunit 1	7q21-q22	mutations
CACNA2D3	calcium channel, voltage-dependent, alpha 2/delta subunit 3	3p21.1	mutations
CACNA2D4	calcium channel, voltage-dependent, alpha 2/delta subunit 4	12p13.3	Retinal cone dystrophy 4 [MIM:610478]
CACNB2	calcium channel, voltage-dependent, beta 2 subunit	10p12	Brugada syndrome 4 [MIM:611876]
CACNB4	calcium channel, voltage-dependent, beta 4 subunit	2q22-q23	Epilepsy, juvenile myoclonic, susceptibility to, 6 [MIM:607682] Epilepsy, idiopathic generalized, susceptibility to, 9 [MIM:607682] Episodic ataxia, type 5 (3) 2
CACNG2	calcium channel, voltage-dependent, gamma subunit 2	22q13.1	mutations
CADM1	cell adhesion molecule 1	11q23.2	mutations
CALCA	calcitonin-related polypeptide alpha	11p15.2-p15.1	mutations
CALCR	calcitonin receptor	7q21.3	Osteoporosis, postmenopausal, susceptibility [MIM:166710]
CALHM1	calcium homeostasis modulator 1	10q24.33	mutations
CALM1	calmodulin 1 (phosphorylase kinase, delta)	14q24-q31	mutations
CALM3	calmodulin 3 (phosphorylase kinase, delta)	19q13.2-q13.3	mutations
CALR3	calreticulin 3	19p13.12	mutations
CALR	calreticulin	19p13.2	mutations
CAMK4	calcium/calmodulin-dependent protein kinase IV	5q21-q23	mutations
CAMKK1	calcium/calmodulin-dependent protein kinase kinase 1, alpha	?	mutations
CAMKK2	calcium/calmodulin-dependent protein kinase kinase 2, beta	?	mutations
CAMPD1	Camptodactyly 1	3q11.2-q13.12	Camptodactyly 1
CAMP	cathelicidin antimicrobial peptide	3p21.3	mutations
CAMTA1	calmodulin binding transcription activator 1	1p36	mutations
CANDF1	candidiasis, familial 1	2p22.3-p21	Candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease
CANDN1	candidiasis, nail 1 (with ICAM1 deficiency)	11p13-q12	Candidiasis, familial chronic nail, with ICAM1 deficiency
CANT1	calcium activated nucleotidase 1	17q25.3	Desbuquois dysplasia [MIM:251450]
CAPN10	calpain 10	2q37.3	Diabetes mellitus, noninsulin-dependent 1 [MIM:601283]
CAPN13	calpain 13	?	mutations
CAPN3	calpain 3, (p94)	15q15.1-q21.1	Muscular dystrophy, limb-girdle, type 2A [MIM:253600]
CAPN5	calpain 5	11q14	mutations
CAQ14	Circulating adiponectin QTL on chromosome 14	14p11.2-q13	Adiponectin, serum level of, QTL3
CAQ5	Circulating adiponectin QTL on chromosome 5	5p15.2-p14	Adiponectin, serum level of, QTL2
CARD14	caspase recruitment domain family, member 14	?	mutations
CARD8	caspase recruitment domain family, member 8	19q13.3	mutations
CARD9	caspase recruitment domain family, member 9	9q34.3	Candidiasis, familial chronic mucocutaneous, autosomal recessive [MIM:212050]
CARTPT	CART prepropeptide	5q13.2	Obesity, susceptibility to [MIM:601665]
CASK	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	Xp11.4	Mental retardation and microcephaly with pontine and cerebellar hypoplasia [MIM:300749] FG syndrome 4 [MIM:300422]
CASP10	caspase 10, apoptosis-related cysteine peptidase	2q33-q34	Autoimmune lymphoproliferative syndrome, type II [MIM:603909] Non-Hodgkin lymphoma, somatic [MIM:605027] Gastric cancer, somatic [MIM:137215]
CASP12	caspase 12 (gene/pseudogene)	11q22.3	Sepsis, susceptibility to
CASP1	caspase 1, apoptosis-related cysteine peptidase	11q22.2-q22.3	mutations
CASP2	caspase 2, apoptosis-related cysteine peptidase	7q35	mutations
CASP3	caspase 3, apoptosis-related cysteine peptidase	4q35	mutations
CASP5	caspase 5, apoptosis-related cysteine peptidase	11q22.2-q22.3	mutations
CASP8	caspase 8, apoptosis-related cysteine peptidase	2q33	Autoimmune lymphoproliferative syndrome, type IIB [MIM:607271] Hepatocellular carcinoma, somatic [MIM:114550] Breast cancer, protection against [MIM:114480] Lung cancer, protection against [MIM:211980]
CASP9	caspase 9, apoptosis-related cysteine peptidase	1p36.3-p36.1	mutations
CASQ2	calsequestrin 2 (cardiac muscle)	1p13.3-p11	Ventricular tachycardia, catecholaminergic polymorphic, 2 [MIM:611938]
CASR	calcium-sensing receptor	3q13.3-q21	Hypocalciuric hypercalcemia, type I [MIM:145980] Hyperparathyroidism, neonatal [MIM:239200] Hypocalcemia, autosomal dominant [MIM:146200] Hypocalcemia, autosomal dominant, with Bartter syndrome Epilepsy, idiopathic generalized, susceptibility to, 8 [MIM:612899]
CAST	calpastatin	5q15-q21	mutations
CATC3	Cataract, autosomal recessive congenital 3	1p34.3-p32.2	Cataract, autosomal recessive congenital 3
CATCN1	cataract, congenital nuclear, autosomal recessive	19q13	Cataract, congenital nuclear, 1
CATM	cataract, congenital, with microphthalmia	16p13.3	Microphthalmia with cataract 1
CATSPER1	cation channel, sperm associated 1	11q13.1	Male infertility, nonsyndromic, autosomal recessive [MIM:612997]
CATSPER2	cation channel, sperm associated 2	?	mutations
CATSPER3	cation channel, sperm associated 3	?	mutations
CATSPER4	cation channel, sperm associated 4	?	mutations
CAT	catalase	11p13	Acatalasemia
CAV1	caveolin 1, caveolae protein, 22kDa	7q31.1	Lipodystrophy, congenital generalized, type 3 [MIM:612526]
CAV3	caveolin 3	3p25	Muscular dystrophy, limb-girdle, type IC [MIM:607801] Rippling muscle disease [MIM:606072] Creatine phosphokinase, elevated serum [MIM:123320] Myopathy, distal, with decreased caveolin 3 Cardiomyopathy, familial hypertrophic [MIM:192600] Long QT syndrome-9 [MIM:611818]
CBFB	core-binding factor, beta subunit	16q22	Myeloid leukemia, acute, M4Eo subtype
CBLB	Cbl proto-oncogene, E3 ubiquitin protein ligase B	3q	mutations
CBL	Cbl proto-oncogene, E3 ubiquitin protein ligase	11q23.3	Noonan syndrome-like disorder [MIM:613563]
CBR1	carbonyl reductase 1	21q22.12	mutations
CBR3	carbonyl reductase 3	21q22.2	mutations
CBS	cystathionine-beta-synthase	21q22.3	Homocystinuria, B6-responsive and nonresponsive types [MIM:236200] Thrombosis, hyperhomocysteinemic [MIM:236200]
CBX2	chromobox homolog 2	17q25	46XY gonadal dysgenesis, complete, CBS2-related [MIM:613080]
CBX4	chromobox homolog 4	?	mutations
CC2D1A	coiled-coil and C2 domain containing 1A	19p13.12	Mental retardation, autosomal recessive 3 [MIM:608443]
CC2D2A	coiled-coil and C2 domain containing 2A	4p15.3	Joubert syndrome 9 [MIM:612285] Meckel syndrome, type 6 [MIM:612284] COACH syndrome [MIM:216360]
CCA1	cataract, congenital, cerulean type, 1	17q24	Cataract, cerulean, type 1
CCAL1	chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis)	8q	Chondrocalcinosis with early-onset osteoarthritis
CCBE1	collagen and calcium binding EGF domains 1	18q21.32	Hennekam lymphangiectasia-lymphedema syndrome [MIM:235510]
CCDC103	coiled-coil domain containing 103	?	mutations
CCDC11	coiled-coil domain containing 11	?	mutations
CCDC148	coiled-coil domain containing 148	?	mutations
CCDC14	coiled-coil domain containing 14	?	mutations
CCDC159	coiled-coil domain containing 159	?	mutations
CCDC18	coiled-coil domain containing 18	?	mutations
CCDC22	coiled-coil domain containing 22	?	mutations
CCDC28B	coiled-coil domain containing 28B	?	mutations
CCDC39	coiled-coil domain containing 39	?	mutations
CCDC40	coiled-coil domain containing 40	?	mutations
CCDC50	coiled-coil domain containing 50	3q28	Deafness, autosomal dominant 44 [MIM:607453]
CCDC6	coiled-coil domain containing 6	10q21	Thyroid papillary carcinoma [MIM:188550]
CCDC78	coiled-coil domain containing 78	?	mutations
CCDC88C	coiled-coil domain containing 88C	?	mutations
CCDC8	coiled-coil domain containing 8	?	mutations
CCDC90B	coiled-coil domain containing 90B	?	mutations
CCHCR1	coiled-coil alpha-helical rod protein 1	6p21.3	mutations
CCKAR	cholecystokinin A receptor	4p15.2-p15.1	mutations
CCKBR	cholecystokinin B receptor	11p15.5-p15.4	mutations
CCK	cholecystokinin	3pter-p21	mutations
CCL11	chemokine (C-C motif) ligand 11	17q21.1-q21.2	HIV1, resistance to [MIM:609423] Asthma, susceptibility to [MIM:600807]
CCL13	chemokine (C-C motif) ligand 13	17q11.2	mutations
CCL17	chemokine (C-C motif) ligand 17	16q13	mutations
CCL22	chemokine (C-C motif) ligand 22	16q13	mutations
CCL26	chemokine (C-C motif) ligand 26	7q11.2	mutations
CCL2	chemokine (C-C motif) ligand 2	17q11.2-q12	HIV-1, resistance to [MIM:609423] Spina bifida, susceptibility to [MIM:182940] Coronary artery disease, modifier of Mycobacterium tuberculosis, susceptibility to [MIM:607948]
CCL3L1	chemokine (C-C motif) ligand 3-like 1	17q11.2	HIV/AIDS, susceptibility to [MIM:609423]
CCL3	chemokine (C-C motif) ligand 3	17q12	HIV infection, resistance to [MIM:609423]
CCL4L1	chemokine (C-C motif) ligand 4-like 1	17q12	mutations
CCL5	chemokine (C-C motif) ligand 5	17q11.2-q12	HIV-1 disease, delayed progression of HIV-1 disease, rapid progression of
CCL7	chemokine (C-C motif) ligand 7	17q11.2-q12	mutations
CCM2	cerebral cavernous malformation 2	7p13	Cerebral cavernous malformations-2 [MIM:603284]
CCNA2	cyclin A2	4q27	mutations
CCND1	cyclin D1	11q13	Colorectal cancer, susceptibility to [MIM:114500] von Hippel-Lindau disease, modification of [MIM:193300]
CCNP	Cataract, congenital, nuclear progressive	2p12	Cataract, nuclear progressive
CCPSO	Cataract, central pouch-like, with sutural opacities	15q21-q22	Cataract, central saccular, with sutural opacities
CCR1	chemokine (C-C motif) receptor 1	3p21	mutations
CCR2	chemokine (C-C motif) receptor 2	3p21	HIV infection, susceptibility/resistance to
CCR3	chemokine (C-C motif) receptor 3	3p21.3	mutations
CCR5	chemokine (C-C motif) receptor 5 (gene/pseudogene)	3p21	HIV infection, susceptibility/resistance to West nile virus, susceptibility to [MIM:610379] Hepatitis C virus, resistance to [MIM:609532] Diabetes mellitus, insulin-dependent, 22 [MIM:612522]
CCR6	chemokine (C-C motif) receptor 6	6q27	mutations
CCR7	chemokine (C-C motif) receptor 7	17q12-q21.2	mutations
CCRL2	chemokine (C-C motif) receptor-like 2	3p21	mutations
CCS	copper chaperone for superoxide dismutase	11q13	mutations
CCT5	chaperonin containing TCP1, subunit 5 (epsilon)	5p15.2	Neuropathy, hereditary sensory, with spastic paraplegia [MIM:256840]
CCT	cataract, congenital, total	Xp22.13	Nance-Horan syndrome [MIM:302350] Cataract, congenital, X-linked [MIM:302200]
CCV	cataract, congenital, Volkmann type	1pter-p36.13	Cataract, congenital, Volkmann type
CD109	CD109 molecule	6q13	mutations
CD14	CD14 molecule	5q31.1	mutations
CD151	CD151 molecule (Raph blood group)	11p15.5	Nephropathy with pretibial epidermolysis bullosa and deafness [MIM:609057] Blood group, Raph [MIM:179620]
CD177	CD177 molecule	19q13.2	mutations
CD19	CD19 molecule	16p11.2	Immunodeficiency, common variable, 3 [MIM:613493]
CD1A	CD1a molecule	1q21-q23	mutations
CD1E	CD1e molecule	1q21-q23	mutations
CD207	CD207 molecule, langerin	2p13	Birbeck granule deficiency [MIM:613393]
CD209	CD209 molecule	19p13.3	Dengue fever, protection against HIV type 1, susceptibility to [MIM:609423] Mycobacterium tuberculosis, susceptibility to [MIM:607948]
CD226	CD226 molecule	18q22.3	mutations
CD22	CD22 molecule	19q13.1	mutations
CD244	CD244 molecule, natural killer cell receptor 2B4	1q22	Rheumatoid arthritis, susceptibility to [MIM:180300]
CD247	CD247 molecule	1q22-q23	Immunodeficiency due to defect in CD3-zeta [MIM:610163]
CD24	CD24 molecule	6q21	Multiple sclerosis, susceptibility to [MIM:126200]
CD27	CD27 molecule	12p13	mutations
CD2AP	CD2-associated protein	6p12	Glomerulosclerosis, focal segmental, 3 [MIM:607832]
CD320	CD320 molecule	19p13.2	Methylmalonic aciduria due to transcobalamin receptor defect [MIM:613646]
CD33	CD33 molecule	19q13.3-q13.4	mutations
CD36	CD36 molecule (thrombospondin receptor)	7q11.2	Macrothrombocytopenia Platelet glycoprotein IV deficiency [MIM:608404] Malaria, cerebral, susceptibility to [MIM:611162] Malaria, cerebral, reduced risk of [MIM:611162] Coronary heart disease, susceptibility to, 7 [MIM:610938]
CD38	CD38 molecule	4p15	mutations
CD3D	CD3d molecule, delta (CD3-TCR complex)	11q23	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive [MIM:608971]
CD3EAP	CD3e molecule, epsilon associated protein	19q13.2-q13.3	mutations
CD3E	CD3e molecule, epsilon (CD3-TCR complex)	11q23	Immunodeficiency due to defect in CD3-epsilon Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive [MIM:608971]
CD3G	CD3g molecule, gamma (CD3-TCR complex)	11q23	Immunodeficiency due to defect in CD3-gamma
CD40LG	CD40 ligand	Xq26	Immunodeficiency, X-linked, with hyper-IgM [MIM:308230]
CD40	CD40 molecule, TNF receptor superfamily member 5	20q12-q13.2	Immunodeficiency with hyper-IgM, type 3 [MIM:606843]
CD44	CD44 molecule (Indian blood group)	11pter-p13	Blood group, Indian system
CD46	CD46 molecule, complement regulatory protein	1q32	Hemolytic uremic syndrome, atypical, susceptibility to, 2 [MIM:612922]
CD4	CD4 molecule	12pter-p12	CD4+ lymphocyte deficiency Lupus erythematosus, susceptibility to (2) 6
CD55	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	1q32	Blood group Cromer
CD58	CD58 molecule	1p13	mutations
CD59	CD59 molecule, complement regulatory protein	11p13	CD59 deficiency [MIM:612300]
CD5	CD5 molecule	11q13	mutations
CD72	CD72 molecule	9p	mutations
CD79A	CD79a molecule, immunoglobulin-associated alpha	19q13.2	Agammaglobulinemia 3 [MIM:613501]
CD79B	CD79b molecule, immunoglobulin-associated beta	17q23	Agammaglobulinemia 6 [MIM:612692]
CD81	CD81 molecule	11p	Immunodeficiency, common variable, 6 [MIM:613496]
CD82	CD82 molecule	11p11.2	Prostate cancer, susceptibility to [MIM:176807]
CD86	CD86 molecule	3q21	mutations
CD8A	CD8a molecule	2p12	CD8 deficiency, familial [MIM:608957]
CD96	CD96 molecule	3q13.13	C syndrome [MIM:211750] C-like syndrome [MIM:605039]
CDAGS	Craniosynostosis, anal anomalies, and porokeratosis syndrome	22q12-q13	CDAGS syndrome
CDAN1	codanin 1	15q15	Anemia, congenital dyserythropoietic, type I [MIM:224120]
CDAN3	congenital dyserythropoietic anemia, type III	15q21	Dyserythropoietic anemia, congenital, type III
CDA	cytidine deaminase	1p36.2-p35	mutations
CDB2	corneal dystrophy of Bowman layer type II (Thiel-Behnke)	10q24	Corneal dystrophy, Thiel-Behnke type
CDC42BPB	CDC42 binding protein kinase beta (DMPK-like)	?	mutations
CDC6	cell division cycle 6	17q21.3	mutations
CDC73	cell division cycle 73	1q25-q31	Hyperparathyroidism-jaw tumor syndrome [MIM:145001] Hyperparathyroidism, familial primary [MIM:145000] Parathyroid adenoma with cystic changes [MIM:145001] Parathyroid carcinoma [MIM:608266]
CDCA7L	cell division cycle associated 7-like	7p15	mutations
CDH12	cadherin 12, type 2 (N-cadherin 2)	5p14-p13	mutations
CDH13	cadherin 13, H-cadherin (heart)	16q24.2-q24.3	mutations
CDH15	cadherin 15, type 1, M-cadherin (myotubule)	16q24.3	Mental retardation, autosomal dominant 3 [MIM:612580]
CDH19	cadherin 19, type 2	18q22-q23	mutations
CDH1	cadherin 1, type 1, E-cadherin (epithelial)	16q22.1	Endometrial carcinoma, somatic [MIM:608089] Ovarian carcinoma, somatic [MIM:167000] Breast cancer, lobular [MIM:114480] Gastric cancer, familial diffuse, with or without cleft lip and/or palate [MIM:137215] Prostate cancer, susceptibility to [MIM:176807]
CDH23	cadherin-related 23	10q21-q22	Usher syndrome, type 1D [MIM:601067] Deafness, autosomal recessive 12 [MIM:601386] Usher syndrome, type 1D/F digenic [MIM:601067]
CDH3	cadherin 3, type 1, P-cadherin (placental)	16q22.1	Hypotrichosis, congenital, with juvenile macular dystrophy [MIM:601553] Ectodermal dysplasia, ectrodactyly, and macular dystrophy [MIM:225280]
CDH4	cadherin 4, type 1, R-cadherin (retinal)	20q13.3	mutations
CDH5	cadherin 5, type 2 (vascular endothelium)	16q22.1	mutations
CDH8	cadherin 8, type 2	16q21-q22.1	mutations
CDHR1	cadherin-related family member 1	10q23.1	Cone-rod dystrophy 15 [MIM:613660]
CDK11A	cyclin-dependent kinase 11A	1p36.3	mutations
CDK4	cyclin-dependent kinase 4	12q14	Melanoma [MIM:609048]
CDK5R1	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	?	mutations
CDK5RAP2	CDK5 regulatory subunit associated protein 2	9q33.3	Microcephaly, primary autosomal recessive, 3 [MIM:604804]
CDK5RAP3	CDK5 regulatory subunit associated protein 3	17q21.31	mutations
CDK7	cyclin-dependent kinase 7	5q13.2	mutations
CDKAL1	CDK5 regulatory subunit associated protein 1-like 1	6p22.3	Diabetes mellitus, noninsulin-dependent, susceptibility to [MIM:125853]
CDKL3	cyclin-dependent kinase-like 3	5q31	mutations
CDKL5	cyclin-dependent kinase-like 5	Xp22	Epileptic encephalopathy, early infantile, 2 [MIM:300672] Angelman syndrome-like [MIM:105830]
CDKN1A	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	6p21.2	mutations
CDKN1B	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	12p13	Multiple endocrine neoplasia, type IV [MIM:610755]
CDKN1C	cyclin-dependent kinase inhibitor 1C (p57, Kip2)	11p15.5	Beckwith-Wiedemann syndrome [MIM:130650]
CDKN2A	cyclin-dependent kinase inhibitor 2A	9p21	Melanoma, cutaneous malignant, 2 [MIM:155601] Li-Fraumeni syndrome [MIM:151623] Melanoma and neural system tumor syndrome [MIM:155755] Pancreatic cancer/melanoma syndrome [MIM:606719] Orolaryngeal cancer, multiple
CDKN2B-AS1	CDKN2B antisense RNA 1	9p21	mutations
CDKN2B	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	9p21	mutations
CDKN2C	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	1p32	mutations
CDON	cell adhesion associated, oncogene regulated	?	mutations
CDSN	corneodesmosin	6p21.3	Hypotrichosis simplex of scalp [MIM:146520]
CDT1	chromatin licensing and DNA replication factor 1	?	mutations
CDX2	caudal type homeobox 2	13q12.3	mutations
CEACAM16	carcinoembryonic antigen-related cell adhesion molecule 16	?	mutations
CEBPA	CCAAT/enhancer binding protein (C/EBP), alpha	19q13.1	Leukemia, acute myeloid [MIM:601626]
CEBPE	CCAAT/enhancer binding protein (C/EBP), epsilon	14q11.2	Specific granule deficiency [MIM:245480]
CECR1	cat eye syndrome chromosome region, candidate 1	22q11.2	mutations
CECR5	cat eye syndrome chromosome region, candidate 5	?	mutations
CECR	cat eye syndrome chromosome region	22q11	Cat eye syndrome
CELIAC10	Celiac disease, susceptibility to, 10	3q25-q26	Celiac disease, susceptibility to, 10
CELIAC11	Celiac disease, susceptibility to, 11	3q28	Celiac disease, susceptibility to, 11
CELIAC12	Celiac disease, susceptibility to, 12	6q25.3	Celiac disease, susceptibility to, 12
CELIAC13	Celiac disease, susceptibility to, 13	12q24	Celiac disease, susceptibility to, 13
CELIAC2	celiac disease 2	5q31-q33	Celiac disease, susceptibility to, 2
CELIAC5	Celiac disease, susceptibility to, 5	15q11-q13	Celiac disease, susceptibility to, 5
CELIAC6	Celiac disease, susceptibility to, 6	4q27	Celiac disease, susceptibility to, 6 Autoimmune disease, susceptibility to, 5
CELIAC7	Celiac disease, susceptibility to, 7	1q31	Celiac disease, susceptibility to, 7
CELIAC8	Celiac disease, susceptibility to, 8	2q11-q12	Celiac disease, susceptibility to, 8
CELIAC9	Celiac disease, susceptibility to, 9	3p21	Celiac disease, susceptibility to, 9
CELSR1	cadherin, EGF LAG seven-pass G-type receptor 1	22q13.3	mutations
CEL	carboxyl ester lipase (bile salt-stimulated lipase)	9q34.3	Maturity-onset diabetes of the young, type VIII [MIM:609812]
CENPJ	centromere protein J	13q12.2	Microcephaly, primary autosomal recessive, 6 [MIM:608393] Seckel syndrome 4 [MIM:613676]
CEP135	centrosomal protein 135kDa	?	mutations
CEP152	centrosomal protein 152kDa	15q21.1	Microcephaly, primary autosomal recessive, 4 [MIM:604321]
CEP164	centrosomal protein 164kDa	?	mutations
CEP290	centrosomal protein 290kDa	12q21.3	Joubert syndrome 5 [MIM:610188] Senior-Loken syndrome 6 [MIM:610189] Leber congenital amaurosis 10 [MIM:611755] Meckel syndrome type 4 [MIM:611134] Bardet-Biedl syndrome 14 [MIM:209900]
CEP41	centrosomal protein 41kDa	?	mutations
CEP57	centrosomal protein 57kDa	?	mutations
CEP63	centrosomal protein 63kDa	?	mutations
CEP68	centrosomal protein 68kDa	?	mutations
CER1	cerberus 1, DAN family BMP antagonist	9p22	mutations
CERKL	ceramide kinase-like	2q31.2-q32.3	Retinitis pigmentosa-26 [MIM:608380]
CES1	carboxylesterase 1	16q13-q22.1	Carboxylesterase 1 deficiency
CES2	carboxylesterase 2	?	mutations
CETP	cholesteryl ester transfer protein, plasma	16q21	CETP deficiency [MIM:607322] Hyperalphalipoproteinemia [MIM:143470] High density lipoprotein cholesterol level QTL 10
CFB	complement factor B	6p21.3	Macular degeneration, age-related, reduced risk of [MIM:603075] Hemolytic uremic syndrome, atypical, susceptibility to, 4 [MIM:612924]
CFC1	cripto, FRL-1, cryptic family 1	2q21.1	Heterotaxy, visceral, 2, autosomal [MIM:605376] Double-outlet right ventricle [MIM:217095] Transposition of the great arteries, dextro-looped 2
CFD	complement factor D (adipsin)	19p13.3	Complement factor D deficiency
CFHR1	complement factor H-related 1	1q31-q32.1	Macular degeneration, age-related, reduced risk of [MIM:603075] Hemolytic uremic syndrome, atypical, susceptibility to [MIM:235400]
CFHR2	complement factor H-related 2	1q31-q32.1	mutations
CFHR3	complement factor H-related 3	1q31-q32.1	Macular degeneration, age-related, reduced risk of [MIM:603075] Hemolytic uremic syndrome, atypical, susceptibility to [MIM:235400]
CFHR5	complement factor H-related 5	1q32	mutations
CFH	complement factor H	1q32	Hemolytic uremic syndrome, atypical, susceptibility to, 1 [MIM:235400] Membranoproliferative glomerulonephritis with CFH deficiency [MIM:609814] Macular degeneration, age-related, 4 [MIM:610698] Complement factor H deficiency [MIM:609814] Basal laminar drusen [MIM:126700]
CFI	complement factor I	4q25	Complement factor I deficiency [MIM:610984] Hemolytic uremic syndrome, atypical, susceptibility to, 3 [MIM:612923]
CFL2	cofilin 2 (muscle)	14q12	Nemaline myopathy 7 [MIM:610687]
CFLAR	CASP8 and FADD-like apoptosis regulator	2q33	mutations
CFM1	cystic fibrosis modifier 1	19q13.2-q13.4	Meconium ileus in cystic fibrosis, susceptibility to
CFP	complement factor properdin	Xp11.4-p11.23	Properdin deficiency, X-linked [MIM:312060]
CFSS	craniofacioskeletal syndrome	Xq26-q27	Craniofacioskeletal syndrome
CFTDX	Myopathy, congenital, with fiber-type disproportion, X-linked	Xq13.1-q22.1	Myopathy, congenital, with fiber-type disproportion, X-linked
CFTR	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	7q31.2	Cystic fibrosis [MIM:219700] Congenital bilateral absence of vas deferens [MIM:277180] Sweat chloride elevation without CF Pancreatitis, idiopathic [MIM:167800] Hypertrypsinemia, neonatal Bronchiectasis with or without elevated sweat chloride 1, modifier of [MIM:211400]
CGA	glycoprotein hormones, alpha polypeptide	6q12-q21	mutations
CGB	chorionic gonadotropin, beta polypeptide	19q13.32	mutations
CGF1	cognitive function 1, social	Xq	Social cognition
CHAMP1	chromosome alignment maintaining phosphoprotein 1	?	mutations
CHAT	choline O-acetyltransferase	10q11.2	Myasthenic syndrome, congenital, associated with episodic apnea [MIM:254210]
CHD1L	chromodomain helicase DNA binding protein 1-like	1q21	mutations
CHD1	chromodomain helicase DNA binding protein 1	5q15-q21	mutations
CHD2	chromodomain helicase DNA binding protein 2	15q26	mutations
CHD3	chromodomain helicase DNA binding protein 3	17p13	mutations
CHD6	chromodomain helicase DNA binding protein 6	?	mutations
CHD7	chromodomain helicase DNA binding protein 7	8q12.1	CHARGE syndrome [MIM:214800] Scoliosis, idiopathic 3 [MIM:608765] Kallmann syndrome 5 [MIM:612370] Hypogonadotropic hypogonadism [MIM:146110]
CHD8	chromodomain helicase DNA binding protein 8	14q11.2	mutations
CHDH	choline dehydrogenase	?	mutations
CHDM	Chordoma	7q33	Chordoma
CHDS1	Coronary heart disease, susceptibility to, 1	16pter-p13	Coronary heart disease, susceptibility to
CHDS2	Coronary heart disease, susceptibility to, 2	2q21.1-q22	Coronary heart disease, susceptibility to, 2
CHDS3	Coronary heart disease, susceptibility to, 3	Xq23-q26	Coronary heart disease, susceptibility to, 3
CHDS4	Coronary heart disease, susceptibility to, 4	14q32	Coronary heart disease, susceptibility to, 4
CHDS8	Coronary heart disease, susceptibility to, 8	9p21	Coronary heart disease, susceptibility to, 8
CHDS9	Coronary heart disease, suscpetibility to, 9	8p22	Coronary heart disease, susceptibility to, 9
CHED1	corneal endothelial dystrophy 1 (autosomal dominant)	20p11.2-q11.2	Congenital hereditary endothelial dystrophy of cornea, autosomal dominant
CHEK2	checkpoint kinase 2	22q12.1	Li-Fraumeni syndrome [MIM:609265] Osteosarcoma, somatic [MIM:259500] Breast cancer, susceptibility to [MIM:114480] Prostate cancer, familial, susceptibility to [MIM:176807] Breast and colorectal cancer, susceptibility to
CHFR	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	12q24.33	mutations
CHGA	chromogranin A (parathyroid secretory protein 1)	14q32	mutations
CHGB	chromogranin B (secretogranin 1)	20pter-p12	mutations
CHI3L1	chitinase 3-like 1 (cartilage glycoprotein-39)	1q32.1	Schizophrenia, susceptibility to [MIM:181500] Asthma-related traits, susceptibility to, 7 [MIM:611960]
CHI3L2	chitinase 3-like 2	?	mutations
CHIA	chitinase, acidic	1p21.3-p13.1	mutations
CHIC2	cysteine-rich hydrophobic domain 2	4q11-q12	Leukemia, acute myeloid [MIM:601626]
CHIT1	chitinase 1 (chitotriosidase)	1q31-q32	Chitotriosidase deficiency
CHKB	choline kinase beta	22q13	mutations
CHL1	cell adhesion molecule with homology to L1CAM (close homolog of L1)	3p26.1	mutations
CHMP1A	charged multivesicular body protein 1A	16q24.3	mutations
CHMP2B	charged multivesicular body protein 2B	3p11.2	Dementia, familial, nonspecific [MIM:600795] Amyotrophic lateral sclerosis, CHMP2B-related
CHMP4B	charged multivesicular body protein 4B	20q11.21	Cataract, posterior polar, 3 [MIM:605387]
CHMRQ	Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion	17p	Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion 2
CHM	choroideremia (Rab escort protein 1)	Xq21.2	Choroideremia [MIM:303100]
CHN1	chimerin 1	2q31-q32.1	Duane retraction syndrome 2 [MIM:604356]
CHNG3	Hypothyroidism, congenital, nongoitrous, 3	15q25.3-q26.1	Hypothyroidism, congenital, nongoitrous, 3
CHRDL1	chordin-like 1	Xq22.1-q23	mutations
CHRFAM7A	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	?	mutations
CHRM1	cholinergic receptor, muscarinic 1	11q13	mutations
CHRM2	cholinergic receptor, muscarinic 2	7q35-q36	mutations
CHRM3	cholinergic receptor, muscarinic 3	1q41-q44	mutations
CHRNA1	cholinergic receptor, nicotinic, alpha 1 (muscle)	2q24-q32	Myasthenic syndrome, slow-channel congenital [MIM:601462] Myasthenic syndrome, fast-channel congenital [MIM:608930] Multiple pterygium syndrome, lethal type [MIM:253290]
CHRNA2	cholinergic receptor, nicotinic, alpha 2 (neuronal)	8p21	Epilepsy, nocturnal frontal lobe, type 4 [MIM:610353]
CHRNA3	cholinergic receptor, nicotinic, alpha 3 (neuronal)	15q25.1	Lung cancer susceptibility 2 [MIM:612052]
CHRNA4	cholinergic receptor, nicotinic, alpha 4 (neuronal)	20q13.2-q13.3	Epilepsy, nocturnal frontal lobe, 1 [MIM:600513] Nicotine addiction, susceptibility to [MIM:188890]
CHRNA5	cholinergic receptor, nicotinic, alpha 5 (neuronal)	15q25.1	Lung cancer susceptibility 2 [MIM:612052]
CHRNA7	cholinergic receptor, nicotinic, alpha 7 (neuronal)	15q14	Schizophrenia, neurophysiologic defect in
CHRNA9	cholinergic receptor, nicotinic, alpha 9 (neuronal)	4p15.1-p14	mutations
CHRNB1	cholinergic receptor, nicotinic, beta 1 (muscle)	17p12-p11	Myasthenic syndrome, slow-channel congenital [MIM:601462] Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency [MIM:608931]
CHRNB2	cholinergic receptor, nicotinic, beta 2 (neuronal)	1q21	Epilepsy, nocturnal frontal lobe, 3 [MIM:605375]
CHRNB3	cholinergic receptor, nicotinic, beta 3 (neuronal)	8p11.2	mutations
CHRNB4	cholinergic receptor, nicotinic, beta 4 (neuronal)	15q24	mutations
CHRND	cholinergic receptor, nicotinic, delta (muscle)	2q33-q34	Myasthenic syndrome, slow-channel congenital [MIM:601462] Myasthenic syndrome, fast-channel congenital [MIM:608930] Multiple pterygium syndrome, lethal type [MIM:253290]
CHRNE	cholinergic receptor, nicotinic, epsilon (muscle)	17p13-p12	Myasthenic syndrome, slow-channel congenital [MIM:601462] Myasthenic syndrome, fast-channel congenital [MIM:608930] Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency [MIM:608931]
CHRNG	cholinergic receptor, nicotinic, gamma (muscle)	2q33-q34	Myasthenia gravis, neonatal transient Escobar syndrome [MIM:265000] Multiple pterygium syndrome, lethal type [MIM:253290]
CHST14	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	15q14	Ehlers-Danlos syndrome, musculocontractural type [MIM:601776]
CHST3	carbohydrate (chondroitin 6) sulfotransferase 3	10q22.1	Spondyloepiphyseal dysplasia with congenital joint dislocations [MIM:143095]
CHST6	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	16q22	Macular corneal dystrophy [MIM:217800]
CHST8	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	19q13.1	mutations
CHSY1	chondroitin sulfate synthase 1	15q26.3	mutations
CHUK	conserved helix-loop-helix ubiquitous kinase	10q24	Cocoon syndrome [MIM:613630]
CIAO1	cytosolic iron-sulfur protein assembly 1	2q11.2	mutations
CIB2	calcium and integrin binding family member 2	15q24	mutations
CIC	capicua homolog (Drosophila)	19q13.2	mutations
CIDEA	cell death-inducing DFFA-like effector a	?	mutations
CIDEC	cell death-inducing DFFA-like effector c	3p25	mutations
CIHL	hearing loss, cisplatin-induced, susceptibility to	6p22.3	Hearing loss, cisplatin-induced, susceptibility to
CIITA	class II, major histocompatibility complex, transactivator	16p13	Bare lymphocyte syndrome, type II, complementation group A [MIM:209920] Rheumatoid arthritis, susceptibility to [MIM:180300]
CILD2	ciliary dyskinesia, primary 2	19q13.3-qter	Ciliary dyskinesia, primary, 2
CILD4	Ciliary dyskinesia, primary, 4	15q13.1-q15.1	Ciliary dyskinesia, primary, 4
CILD8	Ciliary dyskinesia, primary, 8	15q24-q25	Ciliary dyskinesia, primary, 8
CILP	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	15q22	Lumbar disc disease, susceptibility to [MIM:603932]
CIMT	Carotid intimal medial thickness	12q24	Carotid intimal medial thickness
CINN	Cinnamon odor, pleasantness of	4q32.3	Cinnamon odor, pleasantness of
CIRH1A	cirrhosis, autosomal recessive 1A (cirhin)	16q22	Cirrhosis, North American Indian childhood type [MIM:604901]
CISD2	CDGSH iron sulfur domain 2	4q22-q24	Wolfram syndrome 2 [MIM:604928]
CISH	cytokine inducible SH2-containing protein	3p21.3	Tuberculosis, susceptibility to [MIM:607948] Malaria, susceptibility to [MIM:611162] Bacteremia, susceptibility to (3) 9
CITED2	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	6q23.3	mutations
CIZ1	CDKN1A interacting zinc finger protein 1	?	mutations
CKBE	creatine kinase, ectopic expression	14q32	Creatine kinase, brain type, ectopic expression of
CKB	creatine kinase, brain	14q32	mutations
CKM	creatine kinase, muscle	19q13	mutations
CLA3	cerebellar ataxia 3 (cerebellar parenchyma disorder 1)	20q11-q13	Spinocerebellar ataxia, autosomal recessive 6
CLAM	cerebellar atrophy with progressive microcephaly	7q11-q21	Cerebellar atrophy with progressive microcephaly
CLCA1	chloride channel accessory 1	1p31-p22	mutations
CLCA2	chloride channel accessory 2	1p31-p22	mutations
CLCF1	cardiotrophin-like cytokine factor 1	11q13.3	Cold-induced sweating syndrome 1 [MIM:610313]
CLCN1	chloride channel, voltage-sensitive 1	7q35	Myotonia congenita, recessive [MIM:255700] Myotonia congenita, dominant [MIM:160800] Myotonia levior, recessive
CLCN2	chloride channel, voltage-sensitive 2	3q26	Epilepsy, juvenile myoclonic, susceptibility to, 8 [MIM:607628] Epilepsy, juvenile absence, susceptibility to, 2 [MIM:607628] Epilepsy, idiopathic generalized, susceptibility to, 11 [MIM:607628]
CLCN5	chloride channel, voltage-sensitive 5	Xp11.22	Dent disease [MIM:300009] Nephrolithiasis, type I [MIM:310468] Hypophosphatemic rickets [MIM:300554] Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis [MIM:308990]
CLCN7	chloride channel, voltage-sensitive 7	16p13	Osteopetrosis, autosomal recessive 4 [MIM:611490] Osteopetrosis, autosomal dominant 2 [MIM:166600]
CLCNKA	chloride channel, voltage-sensitive Ka	1p36	Bartter syndrome, type 4b, digenic [MIM:613090]
CLCNKB	chloride channel, voltage-sensitive Kb	1p36	Bartter syndrome, type 3 [MIM:607364] Bartter syndrome, type 4, digenic [MIM:602522]
CLDN14	claudin 14	21q22.3	Deafness, autosomal recessive 29
CLDN16	claudin 16	3q27	Hypomagnesemia, primary [MIM:248250]
CLDN19	claudin 19	1p34.2	Hypomagnesemia, renal, with ocular involvement [MIM:248190]
CLDN1	claudin 1	3q28-q29	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis [MIM:607626]
CLEC11A	C-type lectin domain family 11, member A	?	mutations
CLEC2D	C-type lectin domain family 2, member D	12p13	mutations
CLEC4M	C-type lectin domain family 4, member M	19p13.3	SARS infection, protection against
CLEC7A	C-type lectin domain family 7, member A	12p13.2-p12.3	Candidiasis, familial chronic mucocutaneous, autosomal dominant [MIM:613108]
CLF	cholesterol-lowering factor	13q	Cholesterol level QTL 1
CLIC2	chloride intracellular channel 2	?	mutations
CLK2	CDC-like kinase 2	1p31	mutations
CLLS1	Leukemia, chronic lymphocytic, susceptibility to, 1	11q13.3	Leukemia, chronic lymphocytic, susceptibility to, 1
CLLS3	Leukemia, chronic lymphocytic, susceptibility to, 3	9q34.1	Leukemia, chronic lymphocytic, susceptibility to, 3
CLLS4	Leukemia, chronic lymphocytic susceptibility to, 4	6p25	Leukemia, chronic lymphocytic susceptibility to, 4
CLLS5	Leukemia, chronic lymphocytic susceptiblity to, 5	11q24.1	Leukemia, chronic lymphocytic susceptibility to, 5
CLMP	CXADR-like membrane protein	11q24.1	mutations
CLN3	ceroid-lipofuscinosis, neuronal 3	16p12.1	Ceroid-lipofuscinosis, neuronal-3, juvenile [MIM:204200]
CLN5	ceroid-lipofuscinosis, neuronal 5	13q21.1-q32	Ceroid-lipofuscinosis, neuronal-5, variant late infantile [MIM:256731]
CLN6	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	15q21-q23	Ceroid-lipofuscinosis, neuronal-6, variant late infantile [MIM:601780]
CLN8	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	8p23	Ceroid lipofuscinosis, neuronal 8 [MIM:600143] Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant [MIM:610003]
CLNK	cytokine-dependent hematopoietic cell linker	?	mutations
CLOCK	clock circadian regulator	4q12	mutations
CLPS	colipase, pancreatic	6pter-p21.1	mutations
CLPTM1	cleft lip and palate associated transmembrane protein 1	?	mutations
CLQTL2	Cholesterol level QTL 2	2p24-p22	Cholesterol level QTL 2
CLRN1	clarin 1	3q21-q25	Usher syndrome, type 3 [MIM:276902]
CLSTN2	calsyntenin 2	?	mutations
CLTCL1	clathrin, heavy chain-like 1	22q11.2	mutations
CLUL1	clusterin-like 1 (retinal)	?	mutations
CLU	clusterin	8p21-p12	mutations
CLYBL	citrate lyase beta like	13q32	mutations
CMA1	chymase 1, mast cell	14q11.2	mutations
CMAL	Capillary malformations, hereditary	5q13-q22	Capillary malformations, hereditary
CMD1B	cardiomyopathy, dilated 1B (autosomal dominant)	9q13	Cardiomyopathy, dilated 1B
CMD1D	cardiomyopathy, dilated 1D (autosomal dominant)	1q32	Cardiomyopathy, familial hypertrophic, 2 [MIM:115195] Cardiomyopathy, dilated, 1D [MIM:601494] Cardiomyopathy, familial restrictive, 3 [MIM:612422] Left ventricular noncompaction 6 [MIM:601494]
CMD1F	cardiomyopathy, dilated 1F (autosomal dominant)	6q23	Cardiomyopathy, dilated, 1F
CMD1H	cardiomyopathy, dilated 1H (autosomal dominant)	2q14-q22	Cardiomyopathy, dilated, 1H
CMD1K	cardiomyopathy, dilated 1K (autosomal dominant)	6q12-q16	Cardiomyopathy, dilated, 1K
CMD1Q	cardiomyopathy, dilated 1Q (autosomal dominant)	7q22.3-q31.1	Cardiomyopathy, dilated, 1Q
CMD2A	cardiomyopathy, dilated 2A (autosomal recessive)	19q13.4	Cardiomyopathy, familial hypertrophic, 7 [MIM:613690] Cardiomyopathy, familial restrictive [MIM:115210] Cardiomyopathy, dilated, 2A [MIM:611880] Cardiomyopathy, dilated, 1FF [MIM:613286]
CMDR	Craniometaphyseal dysplasia, autosomal recessive	6q21-q22	Craniometaphyseal dysplasia, autosomal recessive
CMIP	c-Maf inducing protein	16q24	mutations
CMM4	Melanoma, cutaneous malignant, 4	1p22	Melanoma, cutaneous malignant, 4
CMM7	Melanoma, cutaneous malignant, susceptibility to, 7	20q11.2	Melanoma, cutaneous malignant, susceptibility to, 7
CMM	cutaneous malignant melanoma/dysplastic nevus	1p36	Malignant melanoma, cutaneous
CMPK1	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	1p32	mutations
CMT1A	Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)	17p11.2	Charcot-Marie-Tooth disease, type 1A [MIM:118220] Dejerine-Sottas disease [MIM:145900] Neuropathy, recurrent, with pressure palsies [MIM:162500] Charcot-Marie-Tooth disease, type 1E [MIM:118300] Roussy-Levy syndrome [MIM:180800]
CMT2B	Charcot-Marie-Tooth neuropathy 2B	3q21	Charcot-Marie-Tooth disease, type 2B [MIM:600882]
CMT2G	Charcot-Marie-Tooth disease, axonal, type 2G	12q12-q13.3	Charcot-Marie-Tooth disease, axonal, type 2G
CMTDI2	Charcot-Marie-Tooth disease, dominant intermediate 2	10q24.1-q25.1	Charcot-Marie-Tooth disease, dominant intermediate 2
CMTX2	Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive)	Xp22.2	Charcot-Marie-Tooth neuropathy, X-linked recessive, 2
CMTX3	Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant)	Xq26	Charcot-Marie-Tooth neuropathy, X-linked recessive, 3
CNBP	CCHC-type zinc finger, nucleic acid binding protein	3q13.3-q24	Myotonic dystrophy, type 2 [MIM:602668]
CNC	Carney complex, multiple neoplasia and lentiginosis	2p16	Carney complex, type II
CNDP1	carnosine dipeptidase 1 (metallopeptidase M20 family)	18q22.3	mutations
CNDP2	CNDP dipeptidase 2 (metallopeptidase M20 family)	18q23	mutations
CND	Corneal dermoids	Xq24-qter	Dermoids of cornea
CNGA1	cyclic nucleotide gated channel alpha 1	4p12-cen	Retinitis pigmentosa-49
CNGA3	cyclic nucleotide gated channel alpha 3	2q11	Achromatopsia-2 [MIM:216900]
CNGB1	cyclic nucleotide gated channel beta 1	16q13	Retinitis pigmentosa-45 [MIM:268000]
CNGB3	cyclic nucleotide gated channel beta 3	8q21-q22	Achromatopsia-3 [MIM:262300] Macular degeneration, juvenile [MIM:248200]
CNKSR1	connector enhancer of kinase suppressor of Ras 1	?	mutations
CNKSR2	connector enhancer of kinase suppressor of Ras 2	Xp22.12	mutations
CNN2	calponin 2	19p13.3	mutations
CNNM2	cyclin M2	10q24.33	mutations
CNNM4	cyclin M4	2q11.2	Jalili syndrome [MIM:217080]
CNOT3	CCR4-NOT transcription complex, subunit 3	19q13.4	mutations
CNOT4	CCR4-NOT transcription complex, subunit 4	7q22-qter	mutations
CNPY3	canopy 3 homolog (zebrafish)	6pter-p12	mutations
CNR1	cannabinoid receptor 1 (brain)	6q14-q15	mutations
CNR2	cannabinoid receptor 2 (macrophage)	1p36	mutations
CNSN	Carnosinemia (carnosinase)	18q21.3	Carnosinemia
CNTF	ciliary neurotrophic factor	11q12.2	mutations
CNTN1	contactin 1	12q11-q12	Myopathy, congenital, Compton-North [MIM:612540]
CNTN4	contactin 4	3p26-p25	mutations
CNTNAP2	contactin associated protein-like 2	7q35-q36	Cortical dysplasia-focal epilepsy syndrome [MIM:610042] Autism susceptibility 15 [MIM:612100] Pitt-Hopkins like syndrome 1 [MIM:610042]
CNTNAP4	contactin associated protein-like 4	?	mutations
COBLL1	cordon-bleu WH2 repeat protein-like 1	?	mutations
COCH	coagulation factor C homolog, cochlin (Limulus polyphemus)	14q12-q13	Deafness, autosomal dominant 9 [MIM:601369]
COD2	cone dystrophy 2 (X-linked)	Xq27	Cone dystrophy, progressive X-linked, 2
CODA	Cavitary optic disc anomalies	12q	Cavitary optic disc anomalies
COG1	component of oligomeric golgi complex 1	17q25.1	Congenital disorder of glycosylation, type IIg [MIM:611209]
COG4	component of oligomeric golgi complex 4	16q22.1	Congenital disorder of glycosylation, type IIj [MIM:613489]
COG5	component of oligomeric golgi complex 5	7q31	Congenital disorder of glycosylation, type IIi [MIM:613612]
COG6	component of oligomeric golgi complex 6	13q13.3	mutations
COG7	component of oligomeric golgi complex 7	16p	Congenital disorder of glycosylation, type IIe [MIM:608779]
COG8	component of oligomeric golgi complex 8	16q22.1	Congenital disorder of glycosylation, type IIh [MIM:611182]
COL10A1	collagen, type X, alpha 1	6q21-q22.3	Metaphyseal chondrodysplasia, Schmid type Spondylometaphyseal dysplasia, Japanese type
COL11A1	collagen, type XI, alpha 1	1p21	Stickler syndrome, type II [MIM:604841] Marshall syndrome [MIM:154780] Lumbar disc herniation, susceptibility to [MIM:603932]
COL11A2	collagen, type XI, alpha 2	6p21.3	Stickler syndrome, type III [MIM:184840] Otospondylomegaepiphyseal dysplasia [MIM:215150] Weissenbacher-Zweymuller syndrome [MIM:277610] Deafness, autosomal dominant 13 [MIM:601868] Deafness, autosomal recessive 53 [MIM:609706]
COL12A1	collagen, type XII, alpha 1	?	mutations
COL14A1	collagen, type XIV, alpha 1	8q23	mutations
COL17A1	collagen, type XVII, alpha 1	10q24.3	Epidermolysis bullosa, junctional, non-Herlitz type [MIM:226650]
COL18A1	collagen, type XVIII, alpha 1	21q22.3	Knobloch syndrome, type 1 [MIM:267750]
COL1A1	collagen, type I, alpha 1	17q21.31-q22	Osteogenesis imperfecta, type I [MIM:166200] OI type II [MIM:166210] OI type III [MIM:259420] OI type IV [MIM:166220] Ehlers-Danlos syndrome, type I [MIM:130000] Ehlers-Danlos syndrome, type VIIA [MIM:130060] Osteoporosis [MIM:166710] Caffey disease [MIM:114000] Bone mineral density variation QTL
COL1A2	collagen, type I, alpha 2	7q22.1	Ehlers-Danlos syndrome, type VIIB [MIM:130060] Osteogenesis imperfecta, type IV [MIM:166220] Osteogenesis imperfecta, type III [MIM:259420] Osteogenesis imperfecta, type II [MIM:166210] Osteoporosis, postmenopausal [MIM:166710] Ehlers-Danlos syndrome, cardiac valvular form [MIM:225320]
COL25A1	collagen, type XXV, alpha 1	4q25	mutations
COL2A1	collagen, type II, alpha 1	12q13.11-q13.2	Stickler syndrome, type I [MIM:108300] Kniest dysplasia [MIM:156550] Achondrogenesis-hypochondrogenesis, type II [MIM:200610] SED congenita [MIM:183900] SMED Strudwick type [MIM:184250] Epiphyseal dysplasia, multiple, with myopia and deafness [MIM:132450] Spondyloperipheral dysplasia [MIM:271700] SED, Namaqualand type Osteoarthritis with mild chondrodysplasia [MIM:604864] Vitreoretinopathy with phalangeal epiphyseal dysplasia Platyspondylic skeletal dysplasia, Torrance type [MIM:151210] Otospondylomegaepiphyseal dysplasia [MIM:215150] Avascular necrosis of the femoral head [MIM:608805] Legg-Calve-Perthes disease [MIM:150600] Stickler sydrome, type I, nonsyndromic ocular [MIM:609508]
COL3A1	collagen, type III, alpha 1	2q31	Ehlers-Danlos syndrome, type IV [MIM:130050] Ehlers-Danlos syndrome, type III [MIM:130020]
COL4A1	collagen, type IV, alpha 1	13q34	Porencephaly [MIM:175780] Brain small vessel disease with hemorrhage [MIM:607595] Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [MIM:611773] Brain small vessel disease with Axenfeld-Rieger anomaly [MIM:607595]
COL4A2	collagen, type IV, alpha 2	13q34	mutations
COL4A3	collagen, type IV, alpha 3 (Goodpasture antigen)	2q36-q37	Alport syndrome, autosomal recessive [MIM:203780] Hematuria, benign familial [MIM:141200]
COL4A4	collagen, type IV, alpha 4	2q36-q37	Alport syndrome, autosomal recessive [MIM:203780] Hematuria, familial benign
COL4A5	collagen, type IV, alpha 5	Xq22.3	Alport syndrome [MIM:301050]
COL4A6	collagen, type IV, alpha 6	Xq22.3	Leiomyomatosis, diffuse, with Alport syndrome [MIM:308940]
COL5A1	collagen, type V, alpha 1	9q34.2-q34.3	Ehlers-Danlos syndrome, type II [MIM:130010] Ehlers-Danlos syndrome, type I [MIM:130000]
COL5A2	collagen, type V, alpha 2	2q31	Ehlers-Danlos syndrome, type I [MIM:130000]
COL6A1	collagen, type VI, alpha 1	21q22.3	Bethlem myopathy [MIM:158810] Ullrich congenital muscular dystrophy [MIM:254090] Ossification of the posterior longitudinal spinal ligaments [MIM:602475]
COL6A2	collagen, type VI, alpha 2	21q22.3	Bethlem myopathy [MIM:158810] Ullrich congenital muscular dystrophy [MIM:254090] Myosclerosis, congenital [MIM:255600]
COL6A3	collagen, type VI, alpha 3	2q37	Bethlem myopathy [MIM:158810] Ullrich congenital muscular dystrophy [MIM:254090]
COL6A5	collagen, type VI, alpha 5	3q21	mutations
COL7A1	collagen, type VII, alpha 1	3p21.3	Epidermolysis bullosa dystrophica, AD [MIM:131750] Epidermolysis bullosa dystrophica, AR [MIM:226600] Epidermolysis bullosa, pretibial [MIM:131850] EBD, Bart type [MIM:132000] EBD, localisata variant Transient bullous of the newborn [MIM:131705] Epidermolysis bullosa pruriginosa [MIM:604129] Toenail dystrophy, isolated [MIM:607523] EBD inversa [MIM:226600]
COL8A2	collagen, type VIII, alpha 2	1p34.3-p32.3	Corneal dystrophy, Fuchs endothelial, 1 [MIM:136800] Corneal dystrophy polymorphous posterior, 2 [MIM:609140]
COL9A1	collagen, type IX, alpha 1	6q13	Epiphyseal dysplasia, multiple, 6
COL9A2	collagen, type IX, alpha 2	1p33-p32.2	Epiphyseal dysplasia, multiple, 2 [MIM:600204] Intervertebral disc disease, susceptibility to [MIM:603932]
COL9A3	collagen, type IX, alpha 3	20q13.3	Epiphyseal dysplasia, multiple, 3 [MIM:600969] Epiphyseal dysplasia, multiple, with myopathy Intervertebral disc disease, susceptibility to [MIM:603932]
COLEC11	collectin sub-family member 11	2p25.3	mutations
COLQ	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	3p25	Endplate acetylcholinesterase deficiency [MIM:603034]
COMA	Cogan-type congential oculomotor apraxia	2q13	Oculomotor apraxia, congenital, Cogan-type
COMMD1	copper metabolism (Murr1) domain containing 1	2p16-p13	mutations
COMP	cartilage oligomeric matrix protein	19p13.1	Pseudoachondroplasia [MIM:177170] Epiphyseal dysplasia, multiple 1 [MIM:132400]
COMT	catechol-O-methyltransferase	22q11.2	Schizophrenia, susceptibility to [MIM:181500] Panic disorder, susceptibility to [MIM:167870]
COPD	Pulmonary disease, chronic obstructive, severe early-onset	2q	Pulmonary disease, chronic obstructive, severe early-onset
COPS4	COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)	Xq27-q28	Microphthalmia, syndromic 4
COPS8	COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)	6q21	Microphthalmia, syndromic 8
COP	clathrin-ordered protein	7p11.2	mutations
COQ2	coenzyme Q2 homolog, prenyltransferase (yeast)	4q21-q22	Coenzyme Q10 deficiency [MIM:607426]
COQ4	coenzyme Q4 homolog (S. cerevisiae)	9q34.13	mutations
COQ5	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	?	mutations
COQ6	coenzyme Q6 homolog, monooxygenase (S. cerevisiae)	?	mutations
COQ9	coenzyme Q9 homolog (S. cerevisiae)	16q13	Coenzyme Q10 deficiency [MIM:607426]
CORD1	cone rod dystrophy 1 (autosomal dominant)	18q21.1-q21.3	Cone-rod retinal dystrophy-1
CORD8	cone rod dystrophy 8	1q12-q24	Cone-rod dystrophy 8
CORIN	corin, serine peptidase	4p13-p12	mutations
CORO1A	coronin, actin binding protein, 1A	16p11.2	mutations
COX10	cytochrome c oxidase assembly homolog 10 (yeast)	17p12-p11.2	Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency
COX15	cytochrome c oxidase assembly homolog 15 (yeast)	10q24	Cardiomyopathy, hypertrophic, early-onset fatal Leigh syndrome due to cytochrome c oxidase deficiency [MIM:256000]
COX4I1	cytochrome c oxidase subunit IV isoform 1	16q22-qter	mutations
COX4I2	cytochrome c oxidase subunit IV isoform 2 (lung)	20q11.21	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [MIM:612714]
COX6B1	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	19q13.1	Cytochrome c oxidase deficiency [MIM:220110]
COX7A1	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	19q13.12	mutations
COX7A2	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	6q12	mutations
COX7B	cytochrome c oxidase subunit VIIb	?	mutations
CPA4	carboxypeptidase A4	7q32	mutations
CPA6	carboxypeptidase A6	?	mutations
CPAT1	cerebral palsy, ataxic 1	9p12-q12	Cerebral palsy, ataxic, autosomal recessive
CPB2	carboxypeptidase B2 (plasma)	13q14.11	mutations
CPE	carboxypeptidase E	4q32.3	mutations
CPLX2	complexin 2	5q35.2	mutations
CPN1	carboxypeptidase N, polypeptide 1	10q24.2	Carboxypeptidase N deficiency [MIM:212070]
CPOX	coproporphyrinogen oxidase	3q12	Coproporphyria [MIM:121300] Harderoporphyria [MIM:121300]
CPO	carboxypeptidase O	?	coproporphyria,hereditary acute hepatic porphyria characterized by cutaneous photosensibility and neurological disturbances with an overproduction of coproporphyrin,including harderoporphyria
CPROTQ	C-reactive protein QTL	10q23-q24	C-reactive protein QTL
CPS1	carbamoyl-phosphate synthase 1, mitochondrial	2q35	Carbamoylphosphate synthetase I deficiency [MIM:237300] Pulmonary hypertension, familial persistent, of the newborn [MIM:265380] Venoocclusive disease after bone marrow transplantation (3) 1
CPT1A	carnitine palmitoyltransferase 1A (liver)	11q13	CPT deficiency, hepatic, type IA [MIM:255120]
CPT1B	carnitine palmitoyltransferase 1B (muscle)	22q13	mutations
CPT2	carnitine palmitoyltransferase 2	1p32	Myopathy due to CPT II deficiency [MIM:255110] CPT deficiency, hepatic, type II [MIM:600649] CPT II deficiency, lethal neonatal [MIM:608836]
CPXM2	carboxypeptidase X (M14 family), member 2	?	mutations
CPZ	carboxypeptidase Z	?	mutations
CP	ceruloplasmin (ferroxidase)	3q23-q24	Hypoceruloplasminemia, hereditary [MIM:604290] Cerebellar ataxia [MIM:604290] Hemosiderosis, systemic, due to aceruloplasminemia [MIM:604290]
CR1	complement component (3b/4b) receptor 1 (Knops blood group)	1q32	CR1 deficiency ?SLE susceptibility Blood group, Knops system [MIM:607486] Malaria, severe, resistance to [MIM:611162]
CR2	complement component (3d/Epstein Barr virus) receptor 2	1q32	Systemic lupus erythematosus, susceptibility to, 9 [MIM:610927]
CRAC1	colorectal adenoma and carcinoma 1	15q15.3-q22.1	Polyposis syndrome, mixed hereditary 1 Colorectal cancer, susceptibility to, 4
CRADD	CASP2 and RIPK1 domain containing adaptor with death domain	12q21.33-q23.1	mutations
CRAT	carnitine O-acetyltransferase	9q34.1	Carnitine acetyltransferase deficiency
CRB1	crumbs homolog 1 (Drosophila)	1q31-q32.1	Retinitis pigmentosa-12, autosomal recessive [MIM:600105] Leber congenital amaurosis 8 Pigmented paravenous chorioretinal atrophy [MIM:172870]
CRBN	cereblon	3p26.2	Mental retardation, autosomal recessive 2A [MIM:607417]
CRCL	Creatinine clearance QTL	3p	Creatinine clearance QTL
CRCS10	Colorectal cancer, susceptibility to, 10	19q13.1	Colorectal cancer, susceptibility to, 10
CRCS11	Colorectal cancer, susceptibility to, 11	20p12.3	Colorectal cancer, susceptibility to, 11
CRCS2	Colorectal cancer, susceptibility to, 2	8q24	Colorectal cancer, susceptibility to, 2
CRCS5	Colorectal cancer, susceptibility to, 5	10p14	Colorectal cancer, susceptibility to, 5
CRCS6	colorectal cancer, susceptibility to, 6	8q23	Colorectal cancer, susceptibility to, 6
CRCS7	colorectal cancer, susceptibility to, 7	11q23	Colorectal cancer, susceptibility to, 7
CRCS8	Colorectal cancer, susceptibility to, 8	14q22.2	Colorectal cancer, susceptibility to, 8
CRCS9	colorectal cancer, susceptibility to, 9	16q22.1	Colorectal cancer, susceptibility to, 9
CREB1	cAMP responsive element binding protein 1	2q32.3-q34	Histiocytoma, angiomatoid fibrous, somatic [MIM:612160]
CREB3L3	cAMP responsive element binding protein 3-like 3	19p13.3	mutations
CREB3L4	cAMP responsive element binding protein 3-like 4	1q21.3	mutations
CREBBP	CREB binding protein	16p13.3	Rubinstein-Taybi syndrome [MIM:180849]
CRELD1	cysteine-rich with EGF-like domains 1	3p25.3	Atrioventricular septal defect, susceptibility to, 2 [MIM:606217] Atrioventricular septal defect, partial, with heterotaxy syndrome [MIM:606217]
CRHR1	corticotropin releasing hormone receptor 1	17q12-q22	mutations
CRH	corticotropin releasing hormone	8q13	congenital isolated adrenocorticotropic hormone (ACTH) deficiency (?CRH or ? SGKL defect)
CRIPT	cysteine-rich PDZ-binding protein	?	mutations
CRISP2	cysteine-rich secretory protein 2	6p12	mutations
CRKL	v-crk sarcoma virus CT10 oncogene homolog (avian)-like	22q11	mutations
CRK	v-crk sarcoma virus CT10 oncogene homolog (avian)	17p13.3	mutations
CRLF1	cytokine receptor-like factor 1	19p12	Cold-induced sweating syndrome [MIM:272430] Crisponi syndrome [MIM:601378]
CRP	C-reactive protein, pentraxin-related	1q21-q23	mutations
CRSA	Craniosynostosis, Adelaide type	4p16	Craniosynostosis, Adelaide type
CRTAP	cartilage associated protein	3p22	Osteogenesis imperfecta, type IIB [MIM:610854] Osteogenesis imperfecta, type VII [MIM:610682]
CRTC1	CREB regulated transcription coactivator 1	19p13	Mucoepidermoid salivary gland carcinoma
CRX	cone-rod homeobox	19q13.3	Cone-rod retinal dystrophy-2 [MIM:120970] Leber congenital amaurosis 7 Retinitis pigmentosa, late-onset dominant [MIM:268000]
CRYAA	crystallin, alpha A	21q22.3	Cataract, zonular central nuclear, autosomal dominant Cataract, congenital, autosomal recessive Cataract, autosomal dominant nuclear
CRYAB	crystallin, alpha B	11q22.3-q23.1	Myopathy, cardioskeletal, desmin-related, with cataract [MIM:608810] Cataract, posterior polar 2
CRYBA1	crystallin, beta A1	17q11.1-q12	Cataract, congenital zonular, with sutural opacities [MIM:600881]
CRYBA4	crystallin, beta A4	22q11.2-q13.1	Cataract, lamellar 2 [MIM:610425] Microphthalmia with cataract 4 [MIM:610426]
CRYBB1	crystallin, beta B1	22q11.2-q12.1	Cataract, pulverulent Cataract, congenital nuclear, autosomal recessive 3 [MIM:611544]
CRYBB2	crystallin, beta B2	22q11.2-q12.2	Cataract, cerulean, type 2 [MIM:601547] Cataract, sutural, with punctate and cerulean opacities [MIM:607133] Cataract, Coppock-like [MIM:604307]
CRYBB3	crystallin, beta B3	22q11.2-q12.2	Cataract, congenital nuclear, 2 [MIM:609741]
CRYGB	crystallin, gamma B	2q33-q35	mutations
CRYGC	crystallin, gamma C	2q33-q35	Cataract, Coppock-like [MIM:604307] Cataract, variable zonular pulverulent
CRYGD	crystallin, gamma D	2q33-q35	Cataracts, punctate, progressive juvenile-onset Cataract, crystalline aculeiform [MIM:115700] Cataract, congenital, cerulean type, 3 [MIM:608983] Cataract, nonnuclear polymorphic congenital [MIM:601286]
CRYGEP	crystallin, gamma E, pseudogene	?	mutations
CRYGS	crystallin, gamma S	3q27	Cataract, progressive polymorphic cortical
CRYM	crystallin, mu	16p13.11-p12.3	Deafness, autosomal dominant 40
CSAG1	chondrosarcoma associated gene 1	?	mutations
CSDE1	cold shock domain containing E1, RNA-binding	1p22	mutations
CSE	choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)	1p	Choreoathetosis/spasticity, episodic
CSF1R	colony stimulating factor 1 receptor	5q33.2-q33.3	Myeloid malignancy, predisposition to
CSF1	colony stimulating factor 1 (macrophage)	1p21-p13	mutations
CSF2RA	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Xp22.32	Pulmonary alveolar proteinosis [MIM:300770]
CSF2RB	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	22q12.2-q13.1	mutations
CSF2	colony stimulating factor 2 (granulocyte-macrophage)	5q31.1	mutations
CSF3R	colony stimulating factor 3 receptor (granulocyte)	1p35-p34.3	Neutrophilia, hereditary [MIM:162830]
CSGALNACT1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	?	mutations
CSH1	chorionic somatomammotropin hormone 1 (placental lactogen)	17q22-q24	Placental lactogen deficiency
CSK	c-src tyrosine kinase	15q23-q25	mutations
CSMD1	CUB and Sushi multiple domains 1	8p23	mutations
CSMD3	CUB and Sushi multiple domains 3	8q23.3	mutations
CSNK1A1L	casein kinase 1, alpha 1-like	?	mutations
CSNK1D	casein kinase 1, delta	17q25	mutations
CSNK1E	casein kinase 1, epsilon	22q12-q13	mutations
CSNK2A2	casein kinase 2, alpha prime polypeptide	16p13.3-p13.2	mutations
CSRP3	cysteine and glycine-rich protein 3 (cardiac LIM protein)	11p15.1	Cardiomyopathy, dilated, 1M [MIM:607482] Cardiomyopathy, familial hypertrophic, 12 [MIM:612124]
CST3	cystatin C	20p11.2	Cerebral amyloid angiopathy [MIM:105150] Macular degeneration, age-related, 11 [MIM:611953]
CST9	cystatin 9 (testatin)	?	mutations
CSTA	cystatin A (stefin A)	3q21	mutations
CSTB	cystatin B (stefin B)	21q22.3	Epilepsy, progressive myoclonic 1 [MIM:254800]
CSTF2T	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	10q22-q23	mutations
CS	citrate synthase	12q13.2-q13.3	mutations
CTAA1	cataract, anterior polar 1	14q24-qter	Cataract, anterior polar-1
CTAA2	cataract, anterior polar 2	17p13	Cataract, anterior polar-2
CTC1	CTS telomere maintenance complex component 1	17p13.1	mutations
CTDP1	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	18q23	Congenital cataracts, facial dysmorphism, and neuropathy [MIM:604168]
CTEPH1	Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to	6p21.3	Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to
CTF1	cardiotrophin 1	16p11.2-p11.1	mutations
CTGF	connective tissue growth factor	6q23.1	mutations
CTHM	cono-truncal heart malformation	22q11.2	Conotruncal anomaly face syndrome [MIM:217095] DiGeorge syndrome [MIM:188400] Velocardiofacial syndrome [MIM:192430]
CTHRC1	collagen triple helix repeat containing 1	8q22.3	mutations
CTH	cystathionase (cystathionine gamma-lyase)	1p31.1	Cystathioninuria [MIM:219500] Homocysteine, total plasma, elevated
CTLA4	cytotoxic T-lymphocyte-associated protein 4	2q33	Graves disease, susceptibility to, 4 Hypothyroidism, autoimmune [MIM:140300] Diabetes mellitus, insulin-dependent, susceptibility to [MIM:601388] Celiac disease, susceptibility to, 3 [MIM:609755]
CTNNA3	catenin (cadherin-associated protein), alpha 3	10q21	mutations
CTNNB1	catenin (cadherin-associated protein), beta 1, 88kDa	3p22-p21.3	Colorectal cancer Hepatoblastoma Pilomatricoma [MIM:132600] Ovarian cancer [MIM:167000] Hepatocellular carcinoma [MIM:114550]
CTNND1	catenin (cadherin-associated protein), delta 1	11q11	mutations
CTNND2	catenin (cadherin-associated protein), delta 2	5p15.2	Mental retardation in cri-du-chat syndrome [MIM:123450]
CTNS	cystinosin, lysosomal cystine transporter	17p13	Cystinosis, nephropathic [MIM:219800] Cystinosis, ocular nonnephropathic [MIM:219750] Cystinosis, late-onset juvenile or adolescent nephropathic [MIM:219900] Cystinosis, atypical nephropathic
CTPL1	cataract, pulverulent (autosomal recessive, early-onset)	9q13-q22	Cataract, autosomal recessive, early-onset, pulverulent
CTPP5	Cataract, posterior polar, 5	14q22-q23	Cataract, posterior polar, 5
CTPP	Cataract, posterior polar	1pter-p36.1	Cataract, posterior polar
CTRC	chymotrypsin C (caldecrin)	1p36.21	Pancreatitis, chronic, susceptibility to [MIM:167800]
CTSA	cathepsin A	20q13.1	Galactosialidosis [MIM:256540]
CTSB	cathepsin B	8p22	mutations
CTSC	cathepsin C	11q14.1-q14.3	Papillon-Lefevre syndrome [MIM:245000] Haim-Munk syndrome [MIM:245010] Periodontitis, juvenile [MIM:170650]
CTSD	cathepsin D	11p15.5	Ceroid lipofuscinosis, neuronal, 10 [MIM:610127]
CTSG	cathepsin G	14q11.2	mutations
CTSK	cathepsin K	1q21	Pycnodysostosis [MIM:265800]
CTSL1	cathepsin L1	9q21-q22	mutations
CTSZ	cathepsin Z	20q13	mutations
CTTNBP2	cortactin binding protein 2	7q31	mutations
CUBN	cubilin (intrinsic factor-cobalamin receptor)	10p12.1	Megaloblastic anemia-1, Finnish type [MIM:261100]
CUL3	cullin 3	2q36	mutations
CUL4B	cullin 4B	Xq23	Mental retardation, X-linked, syndromic 15 (Cabezas type) [MIM:300354]
CUL5	cullin 5	11q22-q23	mutations
CUL7	cullin 7	6p21.1	3-M syndrome [MIM:273750]
CUTA	cutA divalent cation tolerance homolog (E. coli)	?	mutations
CUX2	cut-like homeobox 2	?	mutations
CVMRF	cubitus valgus with mental retardation and unusual facies	X	Cubitus valgus with mental retardation and unusual facies
CX3CR1	chemokine (C-X3-C motif) receptor 1	3pter-p21	Rapid progression to AIDS from HIV1 infection [MIM:609423] Coronary artery disease, resistance to [MIM:607339] Macular degeneration, age-related, susceptibility to [MIM:603075]
CXCL10	chemokine (C-X-C motif) ligand 10	4q21	mutations
CXCL11	chemokine (C-X-C motif) ligand 11	4q21.2	mutations
CXCL12	chemokine (C-X-C motif) ligand 12	10q11.1	AIDS, resistance to [MIM:609423]
CXCL16	chemokine (C-X-C motif) ligand 16	17p13	mutations
CXCL5	chemokine (C-X-C motif) ligand 5	4q12-q13	mutations
CXCR1	chemokine (C-X-C motif) receptor 1	2q35	AIDS, slow progression to [MIM:609423]
CXCR3	chemokine (C-X-C motif) receptor 3	Xq13	mutations
CXCR4	chemokine (C-X-C motif) receptor 4	2q21	WHIM syndrome [MIM:193670] Myelokathexis, isolated
CYB5A	cytochrome b5 type A (microsomal)	18q23	Methemoglobinemia, type IV [MIM:250790]
CYB5R3	cytochrome b5 reductase 3	22q13.31-qter	Methemoglobinemia, type I [MIM:250800] Methemoglobinemia, type II [MIM:250800]
CYBA	cytochrome b-245, alpha polypeptide	16q24	Chronic granulomatous disease, autosomal, due to deficiency of CYBA [MIM:233690]
CYBB	cytochrome b-245, beta polypeptide	Xp21.1	Chronic granulomatous disease, X-linked [MIM:306400]
CYBRD1	cytochrome b reductase 1	?	mutations
CYCS	cytochrome c, somatic	7p15.2	Thrombocytopenia 4 [MIM:612004]
CYLD	cylindromatosis (turban tumor syndrome)	16q12-q13	Cylindromatosis, familial [MIM:132700] Brooke-Spiegler syndrome [MIM:605041] Trichoepithelioma, multiple familial, 1 [MIM:601606]
CYMD	cystoid macular dystrophy	7p21-p15	Macular dystrophy, dominant cystoid
CYP11A1	cytochrome P450, family 11, subfamily A, polypeptide 1	15q23-q24	Lipoid congenital adrenal hyperplasia [MIM:201710] Adrenal insufficiency, congenital with or without 46, XY sex reversal
CYP11B1	cytochrome P450, family 11, subfamily B, polypeptide 1	8q21	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency [MIM:202010] Aldosteronism, glucocorticoid-remediable [MIM:103900]
CYP11B2	cytochrome P450, family 11, subfamily B, polypeptide 2	8q21	Hypoaldosteronism, congenital, due to CMO II deficiency [MIM:610600] Hypoaldosteronism, congenital, due to CMO I deficiency [MIM:203400] Low renin hypertension, susceptibility to Aldosterone to renin ratio raised
CYP17A1	cytochrome P450, family 17, subfamily A, polypeptide 1	10q24.3	17-alpha-hydroxylase/17,20-lyase deficiency [MIM:202110] 17,20-lyase deficiency, isolated [MIM:202110]
CYP19A1	cytochrome P450, family 19, subfamily A, polypeptide 1	15q21.1	Aromatase deficiency [MIM:613546] Aromatase excess syndrome [MIM:139300]
CYP1A1	cytochrome P450, family 1, subfamily A, polypeptide 1	15q24.1	mutations
CYP1A2	cytochrome P450, family 1, subfamily A, polypeptide 2	15q24.1	mutations
CYP1B1	cytochrome P450, family 1, subfamily B, polypeptide 1	2p22-p21	Glaucoma 3A, primary congenital [MIM:231300] Peters anomaly [MIM:604229] Glaucoma, early-onset, digenic Glaucoma, primary open angle, adult-onset [MIM:137760] Glaucoma, primary open angle, juvenile-onset [MIM:137750]
CYP21A2	cytochrome P450, family 21, subfamily A, polypeptide 2	?	adrenal hyperplasia III,female pseudohermaphroditism,with/without salt losing;cryptic non classic and latent forms,hirsutism hyperandrogenic women,virilization with advanced somatic growth,skeletal age and false precocious puberty in male (21-OH deficiency),sometimes with uniparental disomy
CYP24A1	cytochrome P450, family 24, subfamily A, polypeptide 1	20q13.2-q13.3	mutations
CYP26A1	cytochrome P450, family 26, subfamily A, polypeptide 1	10q23-q24	mutations
CYP26B1	cytochrome P450, family 26, subfamily B, polypeptide 1	?	mutations
CYP27A1	cytochrome P450, family 27, subfamily A, polypeptide 1	2q33-qter	Cerebrotendinous xanthomatosis [MIM:213700]
CYP27B1	cytochrome P450, family 27, subfamily B, polypeptide 1	12q13.1-q13.3	Vitamin D-dependent rickets, type I [MIM:264700]
CYP2A13	cytochrome P450, family 2, subfamily A, polypeptide 13	19q13.2	mutations
CYP2A6	cytochrome P450, family 2, subfamily A, polypeptide 6	19q13.2	Coumarin resistance [MIM:122700] Nicotine addiction, protection from [MIM:188890] Lung cancer, resistance to [MIM:211980]
CYP2B6	cytochrome P450, family 2, subfamily B, polypeptide 6	19q13.2	mutations
CYP2C18	cytochrome P450, family 2, subfamily C, polypeptide 18	?	mutations
CYP2C19	cytochrome P450, family 2, subfamily C, polypeptide 19	10q24.1-q24.3	Mephenytoin poor metabolizer [MIM:609535] Opremazole poor metabolizer [MIM:609535] Proguanil poor metabolizer [MIM:609535] Clopidogrel, impaired responsiveness to [MIM:609535]
CYP2C8	cytochrome P450, family 2, subfamily C, polypeptide 8	10q23.3	Rhabdomyolysis, cerivastatin-induced
CYP2C9	cytochrome P450, family 2, subfamily C, polypeptide 9	10q24	Tolbutamide poor metabolizer Warfarin sensitivity [MIM:122700]
CYP2D6	cytochrome P450, family 2, subfamily D, polypeptide 6	22q13.1	Debrisoquine sensitivity [MIM:608902] Codeine sensitivity [MIM:608902]
CYP2D7P1	cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	?	mutations
CYP2E1	cytochrome P450, family 2, subfamily E, polypeptide 1	10q24.3-qter	mutations
CYP2F1	cytochrome P450, family 2, subfamily F, polypeptide 1	19q13.2	mutations
CYP2G1P	cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene	?	mutations
CYP2G2P	cytochrome P450, family 2, subfamily G, polypeptide 2 pseudogene	?	mutations
CYP2J2	cytochrome P450, family 2, subfamily J, polypeptide 2	1p31.3-p31.2	mutations
CYP2R1	cytochrome P450, family 2, subfamily R, polypeptide 1	11p15.2	Rickets due to defect in vitamin D 25-hydroxylation [MIM:600081]
CYP2W1	cytochrome P450, family 2, subfamily W, polypeptide 1	?	mutations
CYP3A43	cytochrome P450, family 3, subfamily A, polypeptide 43	7q22.1	mutations
CYP3A4	cytochrome P450, family 3, subfamily A, polypeptide 4	7q22.1	mutations
CYP3A5	cytochrome P450, family 3, subfamily A, polypeptide 5	7q22.1	Hypertension, salt-sensitive essential, susceptibility to [MIM:145500]
CYP3A7	cytochrome P450, family 3, subfamily A, polypeptide 7	7q22.1	mutations
CYP46A1	cytochrome P450, family 46, subfamily A, polypeptide 1	14q32.1	mutations
CYP4A11	cytochrome P450, family 4, subfamily A, polypeptide 11	1p33	mutations
CYP4A22	cytochrome P450, family 4, subfamily A, polypeptide 22	?	mutations
CYP4B1	cytochrome P450, family 4, subfamily B, polypeptide 1	1p34-p12	mutations
CYP4F12	cytochrome P450, family 4, subfamily F, polypeptide 12	19p13.1	mutations
CYP4F22	cytochrome P450, family 4, subfamily F, polypeptide 22	19p13.12	Ichthyosis, lamellar, 3 [MIM:604777]
CYP4F2	cytochrome P450, family 4, subfamily F, polypeptide 2	?	mutations
CYP4F3	cytochrome P450, family 4, subfamily F, polypeptide 3	19p13.2	mutations
CYP4V2	cytochrome P450, family 4, subfamily V, polypeptide 2	4q35.1	Bietti crystalline corneoretinal dystrophy [MIM:210370]
CYP7A1	cytochrome P450, family 7, subfamily A, polypeptide 1	8q11-q12	mutations
CYP7B1	cytochrome P450, family 7, subfamily B, polypeptide 1	8q21.3	Bile acid synthesis defect, congenital, 3 Spastic paraplegia-5A [MIM:270800]
CYSLTR1	cysteinyl leukotriene receptor 1	Xq13-q21	mutations
CYSLTR2	cysteinyl leukotriene receptor 2	13q14	mutations
D13S25	Disrupted in B-cell neoplasia	13q14	Leukemia, chronic lymphocytic, susceptibility to, 2
D2HGDH	D-2-hydroxyglutarate dehydrogenase	2q37.3	D-2-hydroxyglutaric aciduria [MIM:600721]
DAAM1	dishevelled associated activator of morphogenesis 1	14	mutations
DAB2IP	DAB2 interacting protein	9q33	mutations
DAB2	disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)	5p13	mutations
DACT1	dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)	14q22.3	mutations
DAG1	dystroglycan 1 (dystrophin-associated glycoprotein 1)	3p21	mutations
DAOA	D-amino acid oxidase activator	13q34	Schizophrenia [MIM:181500]
DAO	D-amino-acid oxidase	12q24	Schizophrenia [MIM:181500]
DAPK1	death-associated protein kinase 1	9q34.1	mutations
DARC	Duffy blood group, chemokine receptor	1q23.2	Blood group, Duffy system [MIM:110700] Malaria, vivax, protection against [MIM:611162] White blood cell count QTL [MIM:611862]
DARS2	aspartyl-tRNA synthetase 2, mitochondrial	1q25.1	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation [MIM:611105]
DAZ1	deleted in azoospermia 1	Yq11	Sertoli-cell-only syndrome
DAZ2	deleted in azoospermia 2	Yq11.2	mutations
DAZL	deleted in azoospermia-like	3p24	Spermatogenic failure, susceptibility to
DBA2	Diamond-Blackfan anemia 2	8p23.3-p22	Diamond-Blackfan anemia 2
DBH	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	9q34	Dopamine-beta-hydroxylase activity levels, plasma Dopamine beta-hydroxylase deficiency [MIM:223360]
DBI	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	2q12-q21	mutations
DBT	dihydrolipoamide branched chain transacylase E2	1p31	Maple syrup urine disease, type II [MIM:248600]
DCAF13	DDB1 and CUL4 associated factor 13	?	mutations
DCAF17	DDB1 and CUL4 associated factor 17	2q22.3-q35	Woodhouse-Sakati syndrome [MIM:241080]
DCAF4	DDB1 and CUL4 associated factor 4	?	mutations
DCC	deleted in colorectal carcinoma	18q21.3	Colorectal cancer Mirror movements, congenital [MIM:157600]
DCDC2	doublecortin domain containing 2	6p22.1	mutations
DCK	deoxycytidine kinase	4q13.3-q21.1	mutations
DCLK1	doublecortin-like kinase 1	13q13	mutations
DCLRE1C	DNA cross-link repair 1C	10p	Severe combined immunodeficiency, Athabascan type [MIM:602450] Omenn syndrome [MIM:603554]
DCN	decorin	12q21.3	Corneal dystrophy, congenital stromal [MIM:610048]
DCP1B	DCP1 decapping enzyme homolog B (S. cerevisiae)	12p13.33	mutations
DCR	Down syndrome chromosome region	21q22.3	Down syndrome
DCTD	dCMP deaminase	4q35	mutations
DCTN1	dynactin 1	2p13	Neuropathy, distal hereditary motor, type VIIB [MIM:607641] Amyotrophic lateral sclerosis, susceptibility to [MIM:105400] Perry syndrome [MIM:168605]
DCTN4	dynactin 4 (p62)	?	mutations
DCXR	dicarbonyl/L-xylulose reductase	17q25.3	Pentosuria [MIM:260800]
DCX	doublecortin	Xq22.3-q23	Lissencephaly, X-linked [MIM:300067] Subcortical laminal heteropia, X-linked [MIM:300067]
DDAH1	dimethylarginine dimethylaminohydrolase 1	1p22	mutations
DDAH2	dimethylarginine dimethylaminohydrolase 2	6p21.3	mutations
DDB1	damage-specific DNA binding protein 1, 127kDa	11q12-q13	Xeroderma pigmentosum, group E, subtype 2
DDB2	damage-specific DNA binding protein 2, 48kDa	11p12-p11	Xeroderma pigmentosum, group E, DDB-negative subtype [MIM:278740]
DDC	dopa decarboxylase (aromatic L-amino acid decarboxylase)	7p11	Aromatic L-amino acid decarboxylase deficiency [MIM:608643]
DDIT3	DNA-damage-inducible transcript 3	12q13.1-q13.2	Myxoid liposarcoma [MIM:613488]
DDOST	dolichyl-diphosphooligosaccharide--protein glycosyltransferase	1p36.1	mutations
DDR1	discoidin domain receptor tyrosine kinase 1	6p21.3	mutations
DDR2	discoidin domain receptor tyrosine kinase 2	1q12-qter	Spondylometaepiphyseal dysplasia, short limb-hand type [MIM:271665]
DDRGK1	DDRGK domain containing 1	?	mutations
DDX11	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	12p11	Warsaw breakage syndrome [MIM:613398]
DDX20	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	1p21.1-p13.2	mutations
DDX25	DEAD (Asp-Glu-Ala-Asp) box helicase 25	11q24	mutations
DDX39B	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	6p21.3	mutations
DDX3X	DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked	Xp11.3-p11.23	mutations
DDX3Y	DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked	Yq11	mutations
DDX53	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	?	mutations
DDX58	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	?	mutations
DDX5	DEAD (Asp-Glu-Ala-Asp) box helicase 5	17q23-q25	mutations
DEAF1	DEAF1 transcription factor	?	mutations
DEC1	deleted in esophageal cancer 1	9q32	Esophageal squamous cell carcinoma [MIM:133239]
DECR1	2,4-dienoyl CoA reductase 1, mitochondrial	8q21.3	DECR deficiency
DEFB126	defensin, beta 126	?	mutations
DEFB1	defensin, beta 1	8p23.1	mutations
DEFB4A	defensin, beta 4A	8p23.1	mutations
DEK	DEK oncogene	6p23	Leukemia, acute nonlymphocytic
DEL11P13	Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome	11p13	Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
DEL11P15P14	Chromosome 11p15-p14 deletion syndrome	11p15-p14	Chromosome 11p15-p14 deletion syndrome
DEL14Q11Q22	Chromosome 14q11-q22 deletion syndrome	14q11-q22	Chromosome 14q11-q22 deletion syndrome
DEL15Q15.3	Deafness and male infertility	15q15.3	Deafness and male infertility
DEL15Q24	Chromosome 15q24 deletion syndrome	15q24	Chromosome 15q24 deletion syndrome
DEL15Q26QTER	Chromosome 15q26-qter deletion syndrome	15q26-qter	Chromosome 15q26-qter deletion syndrome
DEL16P12.1P11.2	Chromosome 16p12.2-p11.2 deletion syndrome	16q12.2-p11.2	Chromosome 16p12.2-p11.2 deletion syndrome
DEL17Q11.2	chromosome 17q11.2 deletion syndrome	17q11.2	Chromosome 17q11.2 deletion syndrome, 1.4Mb
DEL17Q21.31	Microdeletion 17q21.31 syndrome	17q21.31	Chromosome 17q21.31 microdeletion syndrome
DEL17Q23.1Q23.2	Chromosome 17q23.1-q23.2 deletion syndrome	17q23.1-q23.2	Chromosome 17q23.1-q23.2 deletion syndrome
DEL18P	Chromosome 18p deletion syndrome	18p	Chromosome 18p deletion syndrome
DEL18Q	Chromosome 18q deletion syndrome	18q	Chromosome 18q deletion syndrome
DEL19P13.13	Chromosome 19p13.13 deletion syndrome	19p13.13	Chromosome 19p13.13 deletion syndrome Chromosome 19p13.13 duplication syndrome
DEL19Q13.11	Chromosome 19q13.11 deletion syndrome	19q13.11	Chromosome 19q13.11 deletion syndrome
DEL1P32P31	Chromosome 1p32-p31 deletion syndrome	1p32-p31	Chromosome 1p32-p31 deletion syndrome
DEL1P36	Chromosome 1p36 deletion syndrome	1p36	Chromosome 1p36 deletion syndrome
DEL1Q21	Chromosome 1q21.1 deletion syndrome	1q21.1	Chromosome 1q21.1 deletion syndrome
DEL1Q41Q42	Chromosome 1q41-q42 deletion syndrome	1q41-q42	Chromosome 1q41-q42 deletion syndrome
DEL1Q42Q44	Chromosome 1q42-q44 deletion syndrome	1q42-q44	Chromosome 1q42-q44 deletion syndrome
DEL2P12P11.2	Chromosome 2p12-p11.2 deletion syndrome	2p12-p11.2	Chromosome 2p12-p11.2 deletion syndrome
DEL2P16.1-P15	Chromosome 2p16.1-p15 deletion syndrome	2p16.1-p15	Chromosome 2p16.1-p15 deletion syndrome
DEL2P21	Hypotonia-cystinuria syndrome	2p21	Hypotonia-cystinuria syndrome
DEL2Q31	Chromosome 2q31.2 deletion syndrome	2q31.2	Chromosome 2q31.2 deletion syndrome
DEL2Q32Q33	Chromosome 2q32-q33 deletion syndrome	2q32-q33	Chromosome 2q32-q33 deletion syndrome
DEL4Q21	Chromosome 4q21 deletion syndrome	4q21	Chromosome 4q21 deletion syndrome
DEL6PTER	Chromosome 6pter deletion syndrome	6pter-p24	Chromosome 6pter-p24 deletion syndrome
DEL6Q11Q14	Chromosome 6q11-q14 deletion syndrome	6q11-q14	Chromosome 6q11-q14 deletion syndrome
DEL6Q24Q25	Chromosome 6q25-q25 deletion syndrome	6q24-q25	Chromosome 6q25-q25 deletion syndrome
DEL8Q13	Mesomelia-synostoses syndrome	8q13	Mesomelia-synostoses syndrome
DEL9P	Chromosome 9p deletion syndrome	9p	Chromosome 9p deletion syndrome
DELXP11.3	Chromosome Xp11.3 deletion syndrome	Xp11.3	Chromosome Xp11.3 deletion syndrome
DELXP21	Chromosome Xp21 deletion syndrome	Xp21	Chromosome Xp21 deletion syndrome
DELXQ28	Chromosome Xq28 microdeletion syndrome	Xq28	Chromosome Xq28 microdeletion syndrome
DENND5A	DENN/MADD domain containing 5A	?	mutations
DENR	density-regulated protein	?	mutations
DER22T11-22	Emanuel syndrome	22q11.2	Emanuel syndrome
DER22T8-22	Supernumerary der(22)t(8-22) syndrome	22q11.2	Supernumerary der(22)t(8-22) syndrome
DES	desmin	2q35	Myopathy, desmin-related, cardioskeletal [MIM:601419] Cardiomyopathy, dilated, 1I [MIM:604765] Scapuloperoneal syndrome, neurogenic, Kaeser type [MIM:181400]
DEXI	Dexi homolog (mouse)	?	mutations
DFCTRPS	Deafness, cataract, retinitis pigmentosa, and sperm abnormalities	X	Deafness, cataract, retinitis pigmentosa, and sperm abnormalities
DFN4	deafness, X-linked 4, congenital sensorineural	Xp21.2	Deafness, X-linked 3
DFN6	deafness, X-linked 6, sensorineural	Xp22	Deafness, X-linked 4
DFNA16	deafness, autosomal dominant 16	2q23-q24.3	Deafness, autosomal dominant 16
DFNA18	deafness, autosomal dominant 18	3q22	Deafness, autosomal dominant 18
DFNA21	deafness, autosomal dominant 21	6p21.3	Deafness, autosomal dominant 21
DFNA24	deafness, autosomal dominant 24	4q35-qter	Deafness, autosomal dominant 24
DFNA27	deafness, autosomal dominant 27	4q12-q13.1	Deafness, autosomal dominant 27
DFNA30	deafness, autosomal dominant 30	15q25-q26	Deafness, autosomal dominant 30
DFNA31	deafness, autosomal dominant 31	6p21.3	Deafness, autosomal dominant 31
DFNA40	deafness, autosomal dominant 40	16p13.11-p12.3	Deafness, autosomal dominant 40
DFNA41	deafness, autosomal dominant 41	12q24.32-qter	Deafness, autosomal dominant 41
DFNA43	deafness, autosomal dominant 43	2p12	Deafness, autosomal dominant 43
DFNA47	deafness, autosomal dominant 47	9p22-p21	Deafness, autosomal dominant 47
DFNA49	deafness, autosomal dominant 49	1q21-q23	Deafness, autosomal dominant 49
DFNA52	deafness, autosomal dominant 52	4q28	Deafness, autosomal dominant 52
DFNA53	deafness, autosomal dominant 53	14q11.2-q12	Deafness, autosomal dominant 53
DFNA59	deafness, autosomal dominant 59	11p14.2-q12.3	Deafness, autosomal dominant 59
DFNA5	deafness, autosomal dominant 5	7p15	Deafness, autosomal dominant 5 [MIM:600994]
DFNA7	deafness, autosomal dominant 7	1q21-q23	Deafness, autosomal dominant 7
DFNB13	deafness, autosomal recessive 13	7q34-q36	Deafness, autosomal recessive 13
DFNB14	deafness, autosomal recessive 14	7q31	Deafness, autosomal recessive 14
DFNB17	deafness, autosomal recessive 17	7q31	Deafness, autosomal recessive 17
DFNB20	deafness, autosomal recessive 20	11q25-qter	Deafness, autosomal recessive 20
DFNB26	deafness, autosomal recessive 26	4q31	Deafness, autosomal recessive 26
DFNB27	deafness, autosomal recessive 27	2q23-q31	Deafness, autosomal recessive 27
DFNB31	deafness, autosomal recessive 31	9q32-q34	Deafness, autosomal recessive 31 [MIM:607084] Usher syndrome, type IID [MIM:611383]
DFNB33	deafness, autosomal recessive 33	10p11.23-q21.1	Deafness, autosomal recessive 33
DFNB38	deafness, autosomal recessive 38	6q26-q27	Deafness, autosomal recessive 38
DFNB40	deafness, autosomal recessive 40	22q11.21-q12.1	Deafness, autosomal recessive 40
DFNB44	deafness, autosomal recessive 44	7p14.1-q11.22	Deafness, autosomal recessive 44
DFNB45	deafness, autosomal recessive 45	1q43-q44	Deafness, autosomal recessive 45
DFNB46	deafness, autosomal recessive 46	18p11.32-p11.31	Deafness, neurosensory, autosomal recessive 46
DFNB47	deafness, autosomal recessive 47	2p25.1-p24.3	Deafness, neurosensory, autosomal recessive 47
DFNB51	deafness, autosomal recessive 51	11p13-p12	Deafness, autosomal recessive 51
DFNB55	deafness, autosomal recessive 55	4q12-q13.2	Deafness, autosomal recessive 55
DFNB59	deafness, autosomal recessive 59	2q31.1-q31.3	Deafness, autosomal recessive 59 [MIM:610220]
DFNB5	deafness, autosomal recessive 5	14q12	Deafness, autosomal recessive 5
DFNB62	deafness, autosomal recessive 62	12p13.2-p11.23	Deafness, autosomal recessive 62
DFNB65	deafness, autosomal recessive 65	20q13.2-q13.3	Deafness, autosomal recessive 65
DFNB66	deafness, autosomal recessive 66	6p22.3-p21.2	Deafness, autosomal recessive 66
DFNB71	deafness, autosomal recessive 71	8p22-p21.3	Deafness, autosomal recessive 71
DFNB74	deafness, autosomal recessive 74	12q14.3	Deafness, autosomal recessive 74 [MIM:613718]
DFNB83	deafness, autosomal recessive 83	9p23-p21.2	Deafness, autosomal recessive 83
DFNB85	deafness, autosomal recessive 85	17p12-q11.2	Deafness, autosomal recessive 85
DFNM1	deafness (recessive, nonsyndromic) modifier 1	1q24	Deafness, nonsyndromic, modifier 1
DFNY1	deafness, Y-linked 1	Y	Deafness, Y-linked 1
DGAT1	diacylglycerol O-acyltransferase 1	8qter	mutations
DGCR14	DiGeorge syndrome critical region gene 14	22q11.2	mutations
DGCR2	DiGeorge syndrome critical region gene 2	22q11.2	mutations
DGCR5	DiGeorge syndrome critical region gene 5 (non-protein coding)	?	mutations
DGCR	DiGeorge syndrome chromosome region	22q11.2	Conotruncal anomaly face syndrome [MIM:217095] DiGeorge syndrome [MIM:188400] Velocardiofacial syndrome [MIM:192430]
DGKD	diacylglycerol kinase, delta 130kDa	2q37.1	mutations
DGS2	DiGeorge syndrome/velocardiofacial syndrome complex 2	10p14-p13	DiGeorge syndrome/velocardiofacial syndrome complex-2
DGUOK	deoxyguanosine kinase	2p13	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [MIM:251880]
DHCR24	24-dehydrocholesterol reductase	1p33-p31.1	Desmosterolosis [MIM:602398]
DHCR7	7-dehydrocholesterol reductase	11q12-q13	Smith-Lemli-Opitz syndrome [MIM:270400]
DHDDS	dehydrodolichyl diphosphate synthase	1p35	mutations
DHFRP1	dihydrofolate reductase pseudogene 1	5q11.2-q13.2	Anemia, megaloblastic, due to DHFR deficiency
DHFR	dihydrofolate reductase	5q11.2-q13.2	Anemia, megaloblastic, due to DHFR deficiency
DHH	desert hedgehog	12q13.1	46XY partial gonadal dysgenesis, with minifascicular neuropathy [MIM:607080] 46XY complete gonadal dysgenesis [MIM:233420]
DHODH	dihydroorotate dehydrogenase (quinone)	16q22	Miller syndrome [MIM:264750]
DHOF	dermal hypoplasia, focal	Xp11.23	Focal dermal hypoplasia [MIM:305600]
DHRS4L1	dehydrogenase/reductase (SDR family) member 4 like 1	?	mutations
DHS	dehydrated hereditary stomatocytosis	16q23-q24	Dehydrated hereditary stomatocytosis Pseudohyperkalemia, familial [MIM:177720] Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema [MIM:603528]
DHX16	DEAH (Asp-Glu-Ala-His) box polypeptide 16	6p21.3	mutations
DHX36	DEAH (Asp-Glu-Ala-His) box polypeptide 36	3q25.2	mutations
DHX37	DEAH (Asp-Glu-Ala-His) box polypeptide 37	?	mutations
DIABLO	diablo, IAP-binding mitochondrial protein	12	mutations
DIAPH1	diaphanous homolog 1 (Drosophila)	5q31	Deafness, autosomal dominant 1 [MIM:124900]
DIAPH2	diaphanous homolog 2 (Drosophila)	Xq22	Premature ovarian failure [MIM:300511]
DIAPH3	diaphanous homolog 3 (Drosophila)	?	mutations
DICER1	dicer 1, ribonuclease type III	14q31	Pleuropulmonary blastoma [MIM:601200]
DIH1	diaphragmatic hernia 1	15q26.1	Hernia, congenital diaphragmatic 1
DIH2	Hernia, congenital diaphragmatic 2	8p23.1	Hernia, congenital diaphragmatic 2
DIO1	deiodinase, iodothyronine, type I	1p33-p32	mutations
DIO2	deiodinase, iodothyronine, type II	14q24.3	mutations
DIP2A	DIP2 disco-interacting protein 2 homolog A (Drosophila)	21q22.3	mutations
DIP2B	DIP2 disco-interacting protein 2 homolog B (Drosophila)	12q13.12	Mental retardation, FRA12A type [MIM:136630]
DIP2C	DIP2 disco-interacting protein 2 homolog C (Drosophila)	10p15.3	mutations
DIRAS3	DIRAS family, GTP-binding RAS-like 3	1p31	Ovarian cancer
DIRC2	disrupted in renal carcinoma 2	3q21	Renal cell carcinoma [MIM:144700]
DIRC3	disrupted in renal carcinoma 3	?	mutations
DIS3L2	DIS3 mitotic control homolog (S. cerevisiae)-like 2	?	mutations
DISC1	disrupted in schizophrenia 1	1q42.1	Schizophrenia, susceptibility to [MIM:604906] Schizoaffective disorder, susceptibility to [MIM:181500]
DISC2	disrupted in schizophrenia 2 (non-protein coding)	1q42.1	Schizophrenia [MIM:181500]
DISP1	dispatched homolog 1 (Drosophila)	1q42	mutations
DKBI	Dyskeratosis, hereditary benign intraepithelial	4q35	Dyskeratosis, hereditary benign intraepithelial
DKC1	dyskeratosis congenita 1, dyskerin	Xq28	Dyskeratosis congenita-1 [MIM:305000] Hoyeraal-Hreidarsson syndrome [MIM:300240]
DKK2	dickkopf 2 homolog (Xenopus laevis)	?	mutations
DKK3	dickkopf 3 homolog (Xenopus laevis)	?	mutations
DLAT	dihydrolipoamide S-acetyltransferase	11q23.1	Pyruvate dehydrogenase E2 deficiency [MIM:245348]
DLC1	deleted in liver cancer 1	8p22-p21.3	Colorectal cancer, somatic
DLD	dihydrolipoamide dehydrogenase	7q31-q32	Maple syrup urine disease, type III [MIM:248600] Leigh syndrome [MIM:256000]
DLEC1	deleted in lung and esophageal cancer 1	3p22-p21.3	Lung cancer [MIM:211980] Esophageal cancer [MIM:133239]
DLEU7	deleted in lymphocytic leukemia, 7	?	mutations
DLG2	discs, large homolog 2 (Drosophila)	11q21	mutations
DLG3	discs, large homolog 3 (Drosophila)	Xq13.1	Mental retardation, X-linked-90
DLG5	discs, large homolog 5 (Drosophila)	10q23	mutations
DLGAP2	discs, large (Drosophila) homolog-associated protein 2	8p	mutations
DLGAP3	discs, large (Drosophila) homolog-associated protein 3	?	mutations
DLL1	delta-like 1 (Drosophila)	?	mutations
DLL3	delta-like 3 (Drosophila)	19q13	Spondylocostal dysostosis, autosomal recessive, 1 [MIM:277300]
DLX3	distal-less homeobox 3	17q21.3-q22	Trichodontoosseous syndrome [MIM:190320] Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism [MIM:104510]
DLX5	distal-less homeobox 5	7q22	mutations
DLX6	distal-less homeobox 6	7q22	mutations
DM1	dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)	19p13.1	Pseudoachondroplasia [MIM:177170] Epiphyseal dysplasia, multiple 1 [MIM:132400]
DMBT1	deleted in malignant brain tumors 1	10q25.3-q26.1	mutations
DMC1	DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)	?	mutations
DMD	dystrophin	Xp21.2	Duchenne muscular dystrophy [MIM:310200] Becker muscular dystrophy [MIM:300376] Cardiomyopathy, dilated, 3B [MIM:302045]
DMGDH	dimethylglycine dehydrogenase	5q12.2-q12.3	Dimethylglycine dehydrogenase deficiency [MIM:605850]
DMP1	dentin matrix acidic phosphoprotein 1	4q21	Hypophosphatemic rickets, AR [MIM:241520]
DMPK	dystrophia myotonica-protein kinase	19q13.2-q13.3	Myotonic dystrophy [MIM:160900]
DMRT1	doublesex and mab-3 related transcription factor 1	9p24.3	mutations
DMXL1	Dmx-like 1	5q21-q22	mutations
DNAAF1	dynein, axonemal, assembly factor 1	16q24.1	Ciliary dyskinesia, primary, 13 [MIM:613193]
DNAAF2	dynein, axonemal, assembly factor 2	14q21.3	Ciliary dyskinesia, primary, 10 [MIM:612518]
DNAAF3	dynein, axonemal, assembly factor 3	?	mutations
DNAH11	dynein, axonemal, heavy chain 11	7p21	Ciliary dyskinesia, primary, 7, with out without situs inversus [MIM:611884]
DNAH5	dynein, axonemal, heavy chain 5	5p15-p14	Ciliary dyskinesia, primary, 3, with or without situs inversus [MIM:608644]
DNAH9	dynein, axonemal, heavy chain 9	17p12	mutations
DNAI1	dynein, axonemal, intermediate chain 1	9p21-p13	Ciliary dyskinesia, primary, 1, with our without situs inversus [MIM:244400]
DNAI2	dynein, axonemal, intermediate chain 2	17q25	Ciliary dyskinesia, primary, 9, with our without situs inversus [MIM:612444]
DNAJA4	DnaJ (Hsp40) homolog, subfamily A, member 4	?	mutations
DNAJB2	DnaJ (Hsp40) homolog, subfamily B, member 2	2q32-34	mutations
DNAJB6	DnaJ (Hsp40) homolog, subfamily B, member 6	?	mutations
DNAJC19	DnaJ (Hsp40) homolog, subfamily C, member 19	3q26.3	3-methylglutaconic aciduria, type V [MIM:610198]
DNAJC5	DnaJ (Hsp40) homolog, subfamily C, member 5	?	mutations
DNAJC6	DnaJ (Hsp40) homolog, subfamily C, member 6	1p32.1-p31.3	mutations
DNAL1	dynein, axonemal, light chain 1	14q24.3	mutations
DNASE1L3	deoxyribonuclease I-like 3	3p21.1-p14.3	mutations
DNASE1	deoxyribonuclease I	16p13.3	Systemic lupus erythematosus, susceptibility to [MIM:152700]
DNASE2	deoxyribonuclease II, lysosomal	19p13.2-q13.4	mutations
DND1	dead end homolog 1 (zebrafish)	5q31.3	mutations
DNM1L	dynamin 1-like	12p11.21	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission
DNM1	dynamin 1	9q34	mutations
DNM2	dynamin 2	19p13.2	Charcot-Marie-Tooth disease, dominant intermediate B [MIM:606482] Myopathy, centronuclear [MIM:160150] Charcot-Marie-Tooth disease, axonal, type 2M [MIM:606482]
DNMBP	dynamin binding protein	?	mutations
DNMT1	DNA (cytosine-5-)-methyltransferase 1	19p13.3-p13.2	mutations
DNMT3A	DNA (cytosine-5-)-methyltransferase 3 alpha	2p23	mutations
DNMT3B	DNA (cytosine-5-)-methyltransferase 3 beta	20q11.2	Immunodeficiency-centromeric instability-facial anomalies syndrome [MIM:242860]
DNMT3L	DNA (cytosine-5-)-methyltransferase 3-like	21q22.3	mutations
DOC2A	double C2-like domains, alpha	16p11.2	mutations
DOCK3	dedicator of cytokinesis 3	3p14	mutations
DOCK5	dedicator of cytokinesis 5	?	mutations
DOCK6	dedicator of cytokinesis 6	?	mutations
DOCK8	dedicator of cytokinesis 8	9p24	Mental retardation, autosomal dominant 2 Hyper-IgE recurrent infection syndrome, autosomal recessive [MIM:243700]
DOCK9	dedicator of cytokinesis 9	13q32.3	mutations
DOK7	docking protein 7	4p16.2	Myasthenia, limb-girdle, familial [MIM:254300] Fetal akinesia deformation sequence [MIM:208150]
DOLK	dolichol kinase	9q34.11	Congenital disorder of glycosylation, type Im [MIM:610768]
DOM3Z	dom-3 homolog Z (C. elegans)	6p21.3	mutations
DPAGT1	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	11q23.3	Congenital disorder of glycosylation, type Ij [MIM:608093]
DPM1	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	20q13.13	Congenital disorder of glycosylation, type Ie [MIM:608799]
DPM2	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	?	mutations
DPM3	dolichyl-phosphate mannosyltransferase polypeptide 3	1q12-q21	Congenital disorder of glycosylation, type Io [MIM:612937]
DPP3	dipeptidyl-peptidase 3	11q12-q13.1	mutations
DPP6	dipeptidyl-peptidase 6	7q36.2	Ventricular fibrillation, paroxysmal familial, 2 [MIM:612956]
DPY19L2	dpy-19-like 2 (C. elegans)	?	mutations
DPYD	dihydropyrimidine dehydrogenase	1p22	Dihydropyrimidine dehydrogenase deficiency [MIM:274270] 5-fluorouracil toxicity [MIM:274270]
DPYSL2	dihydropyrimidinase-like 2	8p21	mutations
DPYS	dihydropyrimidinase	8q22	Dihydropyrimidinuria [MIM:222748]
DRD1	dopamine receptor D1	5q35.1	mutations
DRD2	dopamine receptor D2	11q23.1	Dystonia, myoclonic [MIM:159900]
DRD3	dopamine receptor D3	3q13.3	Schizophrenia, susceptibility to [MIM:181500] Essential tremor, susceptibility to [MIM:190300]
DRD4	dopamine receptor D4	11p15.5	Autonomic nervous system dysfunction Novelty seeking personality [MIM:601696] Attention deficit-hyperactivity disorder [MIM:143465]
DRD5	dopamine receptor D5	4p16.1-p15.3	Blepharospasm, primary benign [MIM:606798] Dystonia, primary cervical Attention deficit-hyperactivity disorder, susceptibility to [MIM:143465]
DROSHA	drosha, ribonuclease type III	5p14-p13	mutations
DRP2	dystrophin related protein 2	Xq22	mutations
DSAP2	disseminated superficial actinic porokeratosis 2	15q25.1-q26.1	Porokeratosis, disseminated superficial actinic, 2
DSAP3	Porokeratosis, disseminated superficial actinic, 3	1p31.3-p31.1	Porokeratosis, disseminated superficial actinic, 3
DSAP4	Porokeratosis, disseminated superficial actinic, 4	18p11.3	Porokeratosis, disseminated superficial actinic, 4
DSC2	desmocollin 2	18q12.1	Arrhythmogenic right ventricular dysplasia, familial, 11 [MIM:610476]
DSC3	desmocollin 3	18q12.1	Hypotrichosis and recurrent skin vesicles [MIM:613102]
DSCAM	Down syndrome cell adhesion molecule	21q22.2-q22.3	mutations
DSCR8	Down syndrome critical region gene 8	21q22.2	mutations
DSG1	desmoglein 1	18q12.1-q12.2	Keratosis palmoplantaris striata I [MIM:148700]
DSG2	desmoglein 2	18q12.1-q12.2	Arrhythmogenic right ventricular dysplasia, familial, 10 [MIM:610193] Cardiomyopathy, dilated, 1BB [MIM:612877]
DSG4	desmoglein 4	18q12	Hypotrichosis, localized, autosomal recessive [MIM:607903]
DSPP	dentin sialophosphoprotein	4q21.3	Dentinogenesis imperfecta, Shields type II [MIM:125490] Deafness, autosomal dominant 36, with dentinogenesis [MIM:605594] Dentinogenesis imperfecta, Shields type III [MIM:125500] Dentin dysplasia, type II [MIM:125420]
DSP	desmoplakin	6p24	Keratosis palmoplantaris striata II [MIM:612908] Dilated cardiomyopathy with woolly hair and keratoderma [MIM:605676] Arrhythmogenic right ventricular dysplasia 8 [MIM:607450] Skin fragility-woolly hair syndrome [MIM:607655] Epidermolysis bullosa, lethal acantholytic [MIM:609638]
DST	dystonin	6p12-p11	mutations
DTNA	dystrobrevin, alpha	18q12.1-q12.2	Left ventricular noncompaction 1, with or without congenital heart defects [MIM:604169]
DTNBP1	dystrobrevin binding protein 1	6p22.3	Schizophrenia [MIM:181500] Hermansky-Pudlak syndrome 7 [MIM:203300]
DUH2	Dyschromatosis universalis hereditaria 2	12q21-q23	Dyschromatosis universalis hereditaria 2
DUH	Dyschromatosis universalis hereditaria	6q24.2-q25.2	Dyschromatosis universalis hereditaria 1
DUOX2	dual oxidase 2	15q15.3	Thryoid dyshormonogenesis 6 [MIM:607200]
DUOXA2	dual oxidase maturation factor 2	15q15	Thyroid dyshormonogenesis 5 [MIM:274900]
DUP16P13.3	Chromosome 16p13.3 duplication syndrome	16p13.3	Chromosome 16p13.3 duplication syndrome
DUP17P13.3	Chromosome 17p13.3 duplication syndrome	17p13.3	Chromosome 17p13.3 duplication syndrome
DUP17Q21.31	Chromosome 17q21.31 duplication syndrome	17q21.31	Chromosome 17q21.31 duplication syndrome
DUP17Q23.1Q23.2	Chromosome 17q23.1-q23.2 duplication syndrome	17q23.1-q23.2	Chromosome 17q23.1-q23.2 duplication syndrome
DUP18PDEL18Q	Chromosome 18 pericentric inversion	18q22	Chromosome 18 pericentric inversion
DUP1Q21	Chromosome 1q21.1 duplication syndrome	1q21.1	Chromosome 1q21.1 duplication syndrome
DUP22Q11.2	Chromosome 22q11.2 microduplication syndrome	22q11.2	Chromosome 22q11.2 microduplication syndrome
DUP2Q31.1	Chromosome 2q31.1 duplication syndrome	2q31.1	Chromosome 2q31.1 duplication syndrome
DUP3Q29	chromosome 3q29 microduplication syndrome	3q29	Chromosome 3q29 microduplication syndrome
DUP5P13	Chromosome 5p13 duplication syndrome	5p13	Chromosome 5p13 duplication syndrome
DUP7Q11.23	Chromosome 7q11.23 duplication syndrome	7q11.23	Chromosome 7q11.23 duplication syndrome
DUPC1	Dupuytren contracture 1	16q11.1-q22	Dupuytren contracture 1
DUPXP11.23P11.22	Chromosome Xp11.23-p11.22 duplication syndrome	Xp11.23-p11.22	Chromosome Xp11.23-p11.22 duplication syndrome
DUPXQ28	Chromosome Xq28 duplication syndrome	Xq28	Chromosome Xq28 duplication syndrome
DURS1	Duane retraction syndrome 1	8q13	Duane syndrome
DUSP15	dual specificity phosphatase 15	?	mutations
DUSP23	dual specificity phosphatase 23	?	mutations
DUSP3	dual specificity phosphatase 3	17q21	mutations
DUX4	double homeobox 4	4q35	mutations
DVL2	dishevelled, dsh homolog 2 (Drosophila)	?	mutations
DVL3	dishevelled, dsh homolog 3 (Drosophila)	3q27	mutations
DYM	dymeclin	18q12-q21.1	Dyggve-Melchior-Clausen disease [MIM:223800] Smith-McCort dysplasia [MIM:607326]
DYNC1H1	dynein, cytoplasmic 1, heavy chain 1	14q32	mutations
DYNC2H1	dynein, cytoplasmic 2, heavy chain 1	11q13.5	Asphyxiating thoracic dystrophy 3 [MIM:613091] Short rib-polydactyly syndrome, type III [MIM:263510] Short rib-polydactyly syndrome, type II, digenic [MIM:263520]
DYNLRB2	dynein, light chain, roadblock-type 2	16q23.3	mutations
DYRK1A	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	21q22.1	mutations
DYSF	dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)	2p13.3-p13.1	Muscular dystrophy, limb-girdle, type 2B [MIM:253601] Miyoshi myopathy [MIM:254130] Myopathy, distal, with anterior tibial onset [MIM:606768]
DYT10	dystonia 10	16p11.2-q12.1	Paroxysmal kinesigenic choreoathetosis
DYT13	dystonia 13, torsion	1p36.32-p36.13	Dystonia 13, torsion
DYT15	dystonia 15, myoclonic	18p11	Dystonia-15, myoclonic
DYT17	dystonia 17	20p11.2-q13.12	Dystonia-17, primary torsion
DYT7	dystonia 7, torsion (autosomal dominant)	18p	Dystonia-7, torsion
DYX1C1	dyslexia susceptibility 1 candidate 1	15q21	Dyslexia, susceptibility to, 1 [MIM:127700]
DYX1	dyslexia susceptibility 1	?	mutations
DYX2	dyslexia susceptibility 2	6p22.2	Dyslexia, susceptibility to, 2 [MIM:600202]
DYX3	dyslexia susceptibility 3	2p16-p15	Dyslexia, susceptibility to, 3
DYX5	dyslexia susceptibility 5	3p12-q13	Dyslexia, susceptibility to, 5
DYX6	dyslexia susceptibility 6	18p11.2	Dyslexia, susceptibility to, 6
DYX8	dyslexia susceptibility 8	1p36-p34	Dyslexia, susceptibility to, 8
DYX9	dyslexia susceptibility 9	Xq27.3	Dyslexia, susceptibility to, 9
EA3	Episodic ataxia, type 3	1q42	Episodic ataxia, type 3
EA7	Episodic ataxia, type 7	19q13	Episodic ataxia, type 7
EARS2	glutamyl-tRNA synthetase 2, mitochondrial	16p13.1-p11.2	mutations
EBAG9	estrogen receptor binding site associated, antigen, 9	8q23	mutations
EBP	emopamil binding protein (sterol isomerase)	Xp11.23-p11.22	Chondrodysplasia punctata, X-linked dominant [MIM:302960]
ECA1	epilepsy, childhood absence 1	8q24	Epilepsy, childhood absence, 1
ECD	ecdysoneless homolog (Drosophila)	Xq25	Corneal dystrophy, endothelial, X-linked
ECE1	endothelin converting enzyme 1	1p36.1	Hirschsprung disease, cardiac defects, and autonomic dysfunction Hypertension, essential, susceptibility to [MIM:145500]
ECI1	enoyl-CoA delta isomerase 1	16p13.3	mutations
ECM1	extracellular matrix protein 1	1q21	Lipoid proteinosis [MIM:247100]
ECM2	extracellular matrix protein 2, female organ and adipocyte specific	9q22.3	mutations
ECSIT	ECSIT homolog (Drosophila)	19p13.2	mutations
ECT	centralopathic epilepsy	11p13	Centrotemporal epilepsy
EDA2R	ectodysplasin A2 receptor	Xq12	mutations
EDARADD	EDAR-associated death domain	1q42.2-q43	Ectodermal dysplasia, anhidrotic, autosomal recessive [MIM:224900] Ectodermal dysplasia, anhidrotic, autosomal dominant [MIM:129490]
EDAR	ectodysplasin A receptor	2q11-q13	Ectodermal dysplasia, hypohidrotic, autosomal dominant [MIM:129490] Ectodermal dysplasia, hypohidrotic, autosomal recessive [MIM:224900] Hair morphology 1, hair thickness [MIM:612630]
EDA	ectodysplasin A	Xq12-q13.1	Ectodermal dysplasia, anhidrotic, X-linked [MIM:305100] Tooth agenesis, selective, X-linked 1 [MIM:313500]
EDN1	endothelin 1	6p24-p23	High density lipoprotein cholesterol level QTL 7
EDN2	endothelin 2	1p34	mutations
EDN3	endothelin 3	20q13.2-q13.3	Waardenburg syndrome, type 4B [MIM:613265] Central hypoventilation syndrome, congenital [MIM:209880] Hirschsprung disease, susceptibility to, 4 [MIM:613712]
EDNRA	endothelin receptor type A	4q31.2	Migraine, resistance to [MIM:157300]
EDNRB	endothelin receptor type B	13q22	Hirschsprung disease, susceptibility to, 2 [MIM:600155] ABCD syndrome [MIM:600501] Waardenburg syndrome, type 4A [MIM:277580]
EDS8	Ehlers-Danlos syndrome, type VIII	12p13	Ehlers-Danlos syndrome, type VIII
EDSS2	Ectodermal dysplasia-syndactyly syndrome 2	7p21.2-p14.3	Ectodermal dysplasia-syndactyly syndrome 2
EEC1	ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1	7q11.2-q21.3	EEC syndrome-1
EED	embryonic ectoderm development	11q14.2-q22.3	mutations
EEF1B2	eukaryotic translation elongation factor 1 beta 2	2q33-q34	mutations
EEF2K	eukaryotic elongation factor-2 kinase	16	mutations
EE	Esophagitis, eosinophilic	17q11.2	Esophagitis, eosinophilic, 1
EFCAB5	EF-hand calcium binding domain 5	?	mutations
EFEMP1	EGF containing fibulin-like extracellular matrix protein 1	2p16	Doyne honeycomb degeneration of retina [MIM:126600]
EFEMP2	EGF containing fibulin-like extracellular matrix protein 2	11q13	Cutis laxa, autosomal recessive, type I [MIM:219100]
EFHC1	EF-hand domain (C-terminal) containing 1	6p12-p11	Myoclonic epilepsy, juvenile, susceptibility to, 1 [MIM:254770] Epilepsy, juvenile absence, susceptibility to, 1 [MIM:607631]
EFHC2	EF-hand domain (C-terminal) containing 2	Xp11.3	mutations
EFNB1	ephrin-B1	Xq12	Craniofrontonasal dysplasia [MIM:304110]
EFR3A	EFR3 homolog A (S. cerevisiae)	8q24.2	mutations
EFTUD2	elongation factor Tu GTP binding domain containing 2	17q21.31	mutations
EGFR	epidermal growth factor receptor	7p12.3-p12.1	Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in [MIM:211980] Adenocarcinoma of lung, response to tyrosine kinase inhibitor in [MIM:211980] Nonsmall cell lung cancer, susceptibility to [MIM:211980]
EGF	epidermal growth factor	4q25	Hypomagnesemia 4, renal [MIM:611718]
EGID-100124696	transient erythroblastopenia of childhood	19q13.2	Transient erythroblastopenia of childhood
EGID-100505381	Miyoshi muscular dystrophy 2	8q22.3	Miyoshi muscular dystrophy 2
EGI	epilepsy, generalized, idiopathic	8q24	Epilepsy, idiopathic generalized, susceptibility to, 1
EGLN1	egl nine homolog 1 (C. elegans)	1q42-q43	Erythrocytosis, familial, 3 [MIM:609820]
EGR2	early growth response 2	10q21.1-q22.1	Neuropathy, congenital hypomyelinating, 1 [MIM:605253] Charcot-Marie-Tooth disease, type 1D [MIM:607678] Dejerine-Sottas neuropathy [MIM:145900]
EGR3	early growth response 3	8p23-p21	mutations
EHBP1	EH domain binding protein 1	2p15	Prostate cancer, hereditary, 12 [MIM:611868]
EHD2	EH-domain containing 2	19q13.3	mutations
EHMT1	euchromatic histone-lysine N-methyltransferase 1	9q34.3	Kleefstra syndrome [MIM:610253]
EHMT2	euchromatic histone-lysine N-methyltransferase 2	?	mutations
EIF2AK3	eukaryotic translation initiation factor 2-alpha kinase 3	2p12	Wolcott-Rallison syndrome [MIM:226980]
EIF2B1	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	12	Leukoencephalopathy with vanishing white matter [MIM:603896]
EIF2B2	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	14q24	Leukoencephalopathy with vanishing white matter [MIM:603896] Ovarioleukodystrophy [MIM:603896]
EIF2B3	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	1p34.1	Leukoencephalopathy with vanishing white matter [MIM:603896]
EIF2B4	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	2p23.3	Leukoencephaly with vanishing white matter [MIM:603896] Ovarioleukodystrophy [MIM:603896]
EIF2B5	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	3q27	Leukoencephalopathy with vanishing white matter [MIM:603896] Ovarioleukodystrophy [MIM:603896]
EIF2S3	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	Xp22.2-p22.1	mutations
EIF3H	eukaryotic translation initiation factor 3, subunit H	8q24.11	mutations
EIF4E	eukaryotic translation initiation factor 4E	4q21-q25	mutations
EIF4G1	eukaryotic translation initiation factor 4 gamma, 1	3q27	mutations
EIG2	Epilepsy, idiopathic generalized, susceptibility to 2	14q23	Epilepsy, idiopathic generalized, susceptibility to, 2
EIG3	Epilepsy, idiopathic generalized, susceptibility to 3	9q32-q33	Epilepsy, idiopathic generalized, susceptibility to, 3
EIG4	Epilepsy, idiopathic generalized, susceptibility to 4	10q25-q26	Epilepsy, idiopathic generalized, susceptibility to 4
EIG5	Epilepsy, idiopathic generalized, susceptibility to, 5	10p11.22	Epilepsy, idiopathic generalized, susceptibility to, 5
EJM1	epilepsy, juvenile myoclonic 1	6p12-p11	Myoclonic epilepsy, juvenile, susceptibility to, 1 [MIM:254770] Epilepsy, juvenile absence, susceptibility to, 1 [MIM:607631]
EJM2	epilepsy, juvenile myoclonic 2	15q14	Epilepsy, idiopathic generalized, susceptibility to, 7 Epilepsy, juvenile myoclonic
EJM3	Epilepsy, juvenile myoclonic 3	6p21	Epilepsy, juvenile myoclonic 3
EJM4	Myoclonic epilepsy, juvenile, 4	5q12-q14	Myoclonic epilepsy, juvenile, 4
EKD2	Episodic kinesigenic dyskinesia 2	16q13-q22.1	Episodic kinesigenic dyskinesia 2
EKV3	erythrokeratodermia variabilis 3 (Kamouraska type)	7q22	Erythrokeratodermia variabilis 3
ELAC2	elaC homolog 2 (E. coli)	17p11	Prostate cancer, susceptibility to [MIM:176807]
ELANE	elastase, neutrophil expressed	19p13.3	Hematopoiesis, cyclic [MIM:162800] Neutropenia, severe congenital, autosomal dominant 1 [MIM:202700]
ELAVL2	ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)	9p21	mutations
ELAVL4	ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4	1p34	Neuropathy, paraneoplastic sensory
ELF4	E74-like factor 4 (ets domain transcription factor)	Xq26	mutations
ELK1	ELK1, member of ETS oncogene family	Xp11.2	mutations
ELL	elongation factor RNA polymerase II	19p13.1	mutations
ELN	elastin	7q11.2	Supravalvar aortic stenosis [MIM:185500] Cutis laxa, AD [MIM:123700]
ELOVL4	ELOVL fatty acid elongase 4	6q14	Stargardt disease 3 [MIM:600110] Macular dystrophy, autosomal dominant, chromosome 6-linked [MIM:600110]
ELP2	elongator acetyltransferase complex subunit 2	?	mutations
ELP4	elongator acetyltransferase complex subunit 4	11p13	mutations
EMB	embigin	Xq27.1-q27.2	Hemophilia B [MIM:306900] Warfarin sensitivity [MIM:122700] Thrombophilia, X-linked, due to factor IX defect [MIM:300807]
EMD	emerin	Xq28	Emery-Dreifuss muscular dystrophy [MIM:310300]
EME1	essential meiotic endonuclease 1 homolog 1 (S. pombe)	17q21.3	mutations
EMG1	EMG1 nucleolar protein homolog (S. cerevisiae)	12p13	Bowen-Conradi syndrome [MIM:211180]
EMWX	episodic muscle weakness, X-linked	Xp22.3	Episodic muscle weakness, X-linked
EMX2	empty spiracles homeobox 2	10q26.1	Schizencephaly [MIM:269160]
EN2	engrailed homeobox 2	7q36	Autism susceptibility 10 [MIM:611016]
ENAM	enamelin	4q21	Amelogenesis imperfecta, type IB [MIM:104500] Amelogenesis imperfecta, type IC [MIM:204650]
ENDO1	Endometriosis, susceptibility to, 1	10q26	Endometriosis, susceptibility to, 1
ENFL2	Epilepsy, nocturnal frontal lobe, type 2	15q24	Epilepsy, nocturnal frontal lobe, type 2
ENG	endoglin	9q34.1	Telangiectasia, hereditary hemorrhagic, type 1 [MIM:187300]
ENO1	enolase 1, (alpha)	1pter-p36.13	Enolase deficiency
ENO3	enolase 3 (beta, muscle)	17pter-p12	Glycogen storage disease XIII [MIM:612932]
ENOX1	ecto-NOX disulfide-thiol exchanger 1	13q14.11	mutations
ENPP1	ectonucleotide pyrophosphatase/phosphodiesterase 1	6q22-q23	Ossification of posterior longitudinal ligament of spine [MIM:602475] Diabetes mellitus, non-insulin-dependent, susceptibility to [MIM:125853] Obesity, susceptibility to [MIM:601665] Arterial calcification, generalized, of infancy [MIM:208000] Hypophosphatemic rickets, autosomal recessive, 2 [MIM:613312]
ENSA	endosulfine alpha	1q21.2	mutations
ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	10q24	mutations
ENUR1	enuresis, nocturnal 1	13q13-q14.3	Enuresis, nocturnal, 1
ENUR2	enuresis, nocturnal 2	12q13-q21	Enuresis, nocturnal, 2
EOE2	Esophagitis, eosinophilic, 2	5q22	Esophagitis, eosinophilic, 2
EOMES	eomesodermin	3p21.3-p21.2	mutations
EOS	eosinophilia, familial	5q31-q33	Eosinophilia, familial
EP300	E1A binding protein p300	22q13	Colorectal cancer [MIM:114500] Rubinstein-Taybi syndrome 2 [MIM:613684]
EPAS1	endothelial PAS domain protein 1	2p21-p16	Erythrocytosis, familial, 4 [MIM:611783]
EPB41L1	erythrocyte membrane protein band 4.1-like 1	?	mutations
EPB41	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	1p36.2-p34	Elliptocytosis-1 [MIM:611804]
EPB42	erythrocyte membrane protein band 4.2	15q15	Spherocytosis, hereditary, type 5 [MIM:612690]
EPC2	enhancer of polycomb homolog 2 (Drosophila)	2q23.1	mutations
EPCAM	epithelial cell adhesion molecule	2p21	Diarrhea 5, with tufting enteropathy, congenital [MIM:613217] Colorectal cancer, hereditary nonpolyposis, type I [MIM:613244]
EPHA2	EPH receptor A2	1p36.1	Cataract, posterior polar, 1 [MIM:613020]
EPHA3	EPH receptor A3	3p11.2	mutations
EPHA4	EPH receptor A4	?	mutations
EPHA5	EPH receptor A5	4q13	mutations
EPHA7	EPH receptor A7	?	mutations
EPHB2	EPH receptor B2	1p36.1-p35	Prostate cancer, progression and metastasis of [MIM:603688]
EPHB6	EPH receptor B6	7q33-q35	mutations
EPHX1	epoxide hydrolase 1, microsomal (xenobiotic)	1q42.1	Fetal hydantoin syndrome Diphenylhydantoin toxicity Hypercholanemia, familial [MIM:607748] Preeclampsia, susceptibility to [MIM:189800]
EPHX2	epoxide hydrolase 2, cytoplasmic	8p21-p12	Hypercholesterolemia, familial, due to LDLR defect, modifier of [MIM:143890]
EPM2A	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	6q24	Epilepsy, progressive myoclonic 2A (Lafora) [MIM:254780]
EPOLM	epilepsy, occipitotemporal lobe, and migraine with aura	9q21-q22	Epilepsy, occipitotemporal lobe, and migraine with aura
EPOR	erythropoietin receptor	19p13.3-p13.2	Erythrocytosis, familial [MIM:133100]
EPO	erythropoietin	7q21	Microvascular complications of diabetes 2 [MIM:612623]
EPPK1	epiplakin 1	?	mutations
EPPS	Epilepsy, partial, with pericentral spikes	4p15	Epilepsy, partial, with pericentral spikes
EPRPDC	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	16p12-p11.2	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp
EPX	eosinophil peroxidase	17q23.1	Eosinophil peroxidase deficiency [MIM:261500]
ERAP1	endoplasmic reticulum aminopeptidase 1	5q15	mutations
ERAP2	endoplasmic reticulum aminopeptidase 2	5q15	mutations
ERBB2	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	17q21.1	Adenocarcinoma of lung, somatic [MIM:211980] Glioblastoma, somatic [MIM:137800] Gastric cancer, somatic [MIM:137215] Ovarian cancer, somatic
ERBB3	v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)	12q13	Lethal congenital contractural syndrome 2 [MIM:607598]
ERBB4	v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)	2q33.3-q34	mutations
ERC2	ELKS/RAB6-interacting/CAST family member 2	15q13.1	Skin/hair/eye pigmentation 1, blue/nonblue eyes [MIM:227220] Skin/hair/eye pigmentation 1, blond/brown hair [MIM:227220]
ERCC1	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	19q13.2-q13.3	Cerebrooculofacioskeletal syndrome 4 [MIM:610758]
ERCC2	excision repair cross-complementing rodent repair deficiency, complementation group 2	19q13.2-q13.3	Xeroderma pigmentosum, group D [MIM:278730] Trichothiodystrophy [MIM:601675] Cerebrooculofacioskeletal syndrome 2 [MIM:610756]
ERCC3	excision repair cross-complementing rodent repair deficiency, complementation group 3	2q21	Xeroderma pigmentosum, group B [MIM:610651] Trichothiodystrophy [MIM:601675]
ERCC4	excision repair cross-complementing rodent repair deficiency, complementation group 4	16p13.3-p13.13	Xeroderma pigmentosum, group F [MIM:278760] XFE progeroid syndrome [MIM:610965]
ERCC5	excision repair cross-complementing rodent repair deficiency, complementation group 5	13q33	Xeroderma pigmentosum, group G [MIM:278780] Cerebrooculofacioskeletal syndrome 3
ERCC6	excision repair cross-complementing rodent repair deficiency, complementation group 6	10q11	Cockayne syndrome, type B [MIM:133540] Cerebrooculofacioskeletal syndrome 1 [MIM:214150] De Sanctis-Cacchione syndrome [MIM:278800] Macular degeneration, age-related, susceptibility to 5 Lung cancer [MIM:211980] UV-sensitive syndrome [MIM:600630]
ERCC8	excision repair cross-complementing rodent repair deficiency, complementation group 8	5q12	Cockayne syndrome, type A [MIM:216400]
ERF	Ets2 repressor factor	19q13.1	mutations
ERLIN2	ER lipid raft associated 2	8p11.2	mutations
ERMAP	erythroblast membrane-associated protein (Scianna blood group)	1p34	Blood group, Scianna system [MIM:111750] Blood group, Radin [MIM:111620]
ESAM	endothelial cell adhesion molecule	?	mutations
ESCO2	establishment of cohesion 1 homolog 2 (S. cerevisiae)	8p21.1	Roberts syndrome [MIM:268300] SC phocomelia syndrome [MIM:269000]
ESPN	espin	1p36.3-p36.1	Deafness, autosomal recessive 36 [MIM:609006] Deafness, neurosensory, without vestibular involvement, autosomal dominant
ESR1	estrogen receptor 1	6q25.1	Breast cancer Estrogen resistance HDL response to hormone replacement, augmented Migraine, susceptibility to [MIM:157300] Atherosclerosis, susceptibility to Myocardial infarction, susceptibility to [MIM:608446]
ESR2	estrogen receptor 2 (ER beta)	14q	mutations
ESRRB	estrogen-related receptor beta	14q24.3	Deafness, autosomal recessive 35 [MIM:608565]
ESRRG	estrogen-related receptor gamma	1q41	mutations
ETFA	electron-transfer-flavoprotein, alpha polypeptide	15q23-q25	Glutaricaciduria, type IIA [MIM:231680]
ETFB	electron-transfer-flavoprotein, beta polypeptide	19q13.3	Glutaricaciduria, type IIB [MIM:231680]
ETFDH	electron-transferring-flavoprotein dehydrogenase	4q32-qter	Glutaricaciduria, type IIC [MIM:231680]
ETHE1	ethylmalonic encephalopathy 1	19q13.32	Ethylmalonic encephalopathy [MIM:602473]
ETL2	epilepsy, familial temporal lobe	12q22-q23.3	Epilepsy, familial temporal lobe
ETM2	essential tremor 2	2p25-p22	Tremor, hereditary essential, 2
ETS1	v-ets erythroblastosis virus E26 oncogene homolog 1 (avian)	11q23.3	mutations
ETV6	ets variant 6	12p13	Leukemia, acute myeloid, somatic [MIM:601626]
EVC2	Ellis van Creveld syndrome 2	4p16	Ellis-van Creveld syndrome [MIM:225500]
EVC	Ellis van Creveld syndrome	4p16	Ellis-van Creveld syndrome [MIM:225500] Weyers acrodental dysostosis [MIM:193530]
EVI5	ecotropic viral integration site 5	1p22	mutations
EVR3	exudative vitreoretinopathy 3	11p13-p12	Exudative vitreoretinopathy-3
EWSR1	Ewing sarcoma breakpoint region 1	22q12	Ewing sarcoma [MIM:612219] Neuroepithelioma [MIM:612219]
EXO1	exonuclease 1	1q42-q43	mutations
EXOC4	exocyst complex component 4	7q31	mutations
EXOC8	exocyst complex component 8	?	mutations
EXOSC3	exosome component 3	?	mutations
EXT1	exostosin 1	8q24.11-q24.13	Exostoses, multiple, type 1 [MIM:133700] Chondrosarcoma [MIM:215300]
EXT2	exostosin 2	11p12-p11	Exostoses, multiple, type 2 [MIM:133701]
EXT3	exostoses (multiple) 3	19p	Exostoses, multiple, type 3
EXTL3	exostoses (multiple)-like 3	8p21	mutations
EYA1	eyes absent homolog 1 (Drosophila)	8q13.3	Branchiootorenal syndrome [MIM:113650] Branchiootic syndrome Anterior segment anomalies and cataract Branchiootorenal syndrome with cataract [MIM:113650] Otofaciocervical syndrome [MIM:166780]
EYA4	eyes absent homolog 4 (Drosophila)	6q23	Deafness, autosomal dominant 10 [MIM:601316] Cardiomyopathy, dilated, 1J [MIM:605362]
EYS	eyes shut homolog (Drosophila)	6q12	Retinitis pigmentosa-25 [MIM:602772]
EZH2	enhancer of zeste homolog 2 (Drosophila)	7q35	mutations
F10	coagulation factor X	?	bleeding diathesis (FX deficiency)
F11	coagulation factor XI	4q35	Factor XI deficiency, autosomal recessive [MIM:612416] Factor XI deficiency, autosomal dominant [MIM:612416]
F12	coagulation factor XII (Hageman factor)	5q33-qter	Factor XII deficiency [MIM:234000] Angioedema, hereditary, type III [MIM:610618]
F13A1	coagulation factor XIII, A1 polypeptide	6p25-p24	Factor XIIIA deficiency [MIM:613225]
F13B	coagulation factor XIII, B polypeptide	1q31-q32.1	Factor XIIIB deficiency [MIM:613235]
F2RL1	coagulation factor II (thrombin) receptor-like 1	5q13	mutations
F2R	coagulation factor II (thrombin) receptor	5q13	mutations
F2	coagulation factor II (thrombin)	11p11-q12	Hypoprothrombinemia [MIM:613679] Dysprothrombinemia [MIM:613679] Thrombosis, susceptibility to [MIM:188050] Stroke, ischemic, susceptibility to [MIM:601367]
F3	coagulation factor III (thromboplastin, tissue factor)	1p22-p21	mutations
F5	coagulation factor V (proaccelerin, labile factor)	1q23	Factor V deficiency [MIM:227400] Thrombophilia, susceptibility to, due to factor V Leiden [MIM:188055] Stroke, ischemic, susceptibility to [MIM:601367] Budd-Chiari syndrome [MIM:600880] Thrombophilia, susceptibility to, due to activated protein C resistance [MIM:188055]
F7	coagulation factor VII (serum prothrombin conversion accelerator)	?	hypoproconvertinemia
F8	coagulation factor VIII, procoagulant component	?	mutations
F9	coagulation factor IX	Xq27.1-q27.2	Hemophilia B [MIM:306900] Warfarin sensitivity [MIM:122700] Thrombophilia, X-linked, due to factor IX defect [MIM:300807]
FA2H	fatty acid 2-hydroxylase	16q23	Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia [MIM:612443]
FAAH2	fatty acid amide hydrolase 2	Xp11	mutations
FAAH	fatty acid amide hydrolase	1p35-p34	Drug addiction, susceptibility to
FABP1	fatty acid binding protein 1, liver	2p11	mutations
FABP2	fatty acid binding protein 2, intestinal	4q28-q31	insulin resistance,increased fatty oxidation in Pima Indian population (FABP2 polymorphism,A94T)
FABP3	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	1p33-p31	mutations
FABP4	fatty acid binding protein 4, adipocyte	8q21	mutations
FABP6	fatty acid binding protein 6, ileal	5q23-q35	mutations
FABP7	fatty acid binding protein 7, brain	6q22-q23	mutations
FADD	Fas (TNFRSF6)-associated via death domain	11q13.3	mutations
FADS2	fatty acid desaturase 2	11q12-q13.1	mutations
FAF2	Fas associated factor family member 2	5q12.1	Mitochondrial complex I deficiency [MIM:252010] Leigh syndrome [MIM:256000]
FAH	fumarylacetoacetate hydrolase (fumarylacetoacetase)	?	tyrosinemia I,hepatorenal
FAM120A	family with sequence similarity 120A	9q22.31	mutations
FAM126A	family with sequence similarity 126, member A	7p15.3	Leukodystrophy, hypomyelinating, 5 [MIM:610532]
FAM134B	family with sequence similarity 134, member B	5p15.1	Neuropathy, hereditary sensory and autonomic, type IIB [MIM:613115]
FAM154A	family with sequence similarity 154, member A	?	mutations
FAM161A	family with sequence similarity 161, member A	2p15	Retinitis pigmentosa 28 [MIM:606068]
FAM175A	family with sequence similarity 175, member A	4q21.2	mutations
FAM188A	family with sequence similarity 188, member A	10p13	mutations
FAM20A	family with sequence similarity 20, member A	17q24.2	mutations
FAM20C	family with sequence similarity 20, member C	7p22	Raine syndrome [MIM:259775]
FAM27L	family with sequence similarity 27-like	?	mutations
FAM47B	family with sequence similarity 47, member B	?	mutations
FAM58A	family with sequence similarity 58, member A	Xq28	STAR syndrome [MIM:300707]
FAM63B	family with sequence similarity 63, member B	?	mutations
FAM64A	family with sequence similarity 64, member A	?	mutations
FAM83H	family with sequence similarity 83, member H	8q24.3	Amelogenesis imperfecta, type 3 [MIM:130900]
FAM8A1	family with sequence similarity 8, member A1	?	mutations
FAM91A1	family with sequence similarity 91, member A1	?	mutations
FAME3	Epilepsy, familial adult myoclonic, 3	5p15.31-p15.1	Epilepsy, familial adult myoclonic, 3
FAN1	FANCD2/FANCI-associated nuclease 1	?	mutations
FANCA	Fanconi anemia, complementation group A	16q24.3	Fanconi anemia, complementation group A [MIM:227650]
FANCB	Fanconi anemia, complementation group B	Xp22.31	Fanconi anemia, complementation group B [MIM:300514]
FANCC	Fanconi anemia, complementation group C	?	Fanconi anemia,autosomal recessive,complementation group C,characterized by progressive bone marrow failure (pancytopenia),often associated with skeletal abnormalities,radial hypoplasia and vertebral defect and an increased cancer risk with spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents
FANCD2	Fanconi anemia, complementation group D2	?	mutations
FANCE	Fanconi anemia, complementation group E	?	mutations
FANCF	Fanconi anemia, complementation group F	?	mutations
FANCG	Fanconi anemia, complementation group G	9p13	Fanconi anemia, complementation group G
FANCI	Fanconi anemia, complementation group I	15q25-q26	Fanconi anemia, complementation group I [MIM:609053]
FANCL	Fanconi anemia, complementation group L	2p16.1	Fanconi anemia, complementation group L
FANCM	Fanconi anemia, complementation group M	14q21.3	Fanconi anemia, complementation group M
FAR1	fatty acyl CoA reductase 1	?	familial amyloidosis,renal,Ostertag type (FGA deposit)
FAR2	fatty acyl CoA reductase 2	?	familial amyloidosis,renal,Ostertag type (lysozyme deposit)
FARP2	FERM, RhoGEF and pleckstrin domain protein 2	?	mutations
FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	6p25.1	mutations
FASLG	Fas ligand (TNF superfamily, member 6)	1q23	Systemic lupus erythematosus, susceptibility [MIM:152700]
FASN	fatty acid synthase	17q25	mutations
FASTKD2	FAST kinase domains 2	2q33.3	Mitochondrial complex IV deficiency [MIM:220110]
FAS	Fas (TNF receptor superfamily, member 6)	10q24.1	Autoimmune lymphoproliferative syndrome [MIM:601859] Squamous cell carcinoma, burn scar-related, somatic Autoimmune lymphoproliferative syndrome, type IA [MIM:601859]
FAT1	FAT tumor suppressor homolog 1 (Drosophila)	4q34-q35	mutations
FBLIM1	filamin binding LIM protein 1	1p36.13	mutations
FBLN1	fibulin 1	22q13.3	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses [MIM:608180]
FBLN2	fibulin 2	3p25-p24	mutations
FBLN5	fibulin 5	14q32.1	Cutis laxa, autosomal recessive [MIM:219100] Cutis laxa, autosomal dominant [MIM:123700] Macular degeneration, age-related, 3 [MIM:608895]
FBN1	fibrillin 1	15q21.1	Marfan syndrome [MIM:154700] Shprintzen-Goldberg syndrome [MIM:182212] Ectopia lentis, familial [MIM:129600] MASS syndrome [MIM:604308] Weill-Marchesani syndrome, dominant [MIM:608328] Aortic aneurysm, ascending, and dissection Stiff skin syndrome [MIM:184900]
FBN2	fibrillin 2	5q23-q31	Contractural arachnodactyly, congenital [MIM:121050]
FBN3	fibrillin 3	?	mutations
FBP1	fructose-1,6-bisphosphatase 1	9q22.2-q22.3	Fructose-1,6-bidphosphatase deficiency [MIM:229700]
FBXL6	F-box and leucine-rich repeat protein 6	?	mutations
FBXO10	F-box protein 10	9p13.1	mutations
FBXO18	F-box protein, helicase, 18	10p15.1	mutations
FBXO33	F-box protein 33	14q13.3	Bone mineral density QTL 12 [MIM:612560]
FBXO7	F-box protein 7	22q12-q13	Parkinson disease 15, autosomal recessive [MIM:260300]
FBXW11	F-box and WD repeat domain containing 11	5q35.1	mutations
FBXW4	F-box and WD repeat domain containing 4	10q24	mutations
FBXW7	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	4q31.3	mutations
FCAR	Fc fragment of IgA, receptor for	19q13.4	mutations
FCER1A	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	1q23	mutations
FCER2	Fc fragment of IgE, low affinity II, receptor for (CD23)	19p13.3	mutations
FCGR1A	Fc fragment of IgG, high affinity Ia, receptor (CD64)	1q21.2-q21.3	IgG receptor I, phagocytic, familial deficiency of
FCGR2A	Fc fragment of IgG, low affinity IIa, receptor (CD32)	1q21-q23	Lupus nephritis, susceptibility to
FCGR2B	Fc fragment of IgG, low affinity IIb, receptor (CD32)	1q22	Systemic lupus erythematosus, susceptibility to [MIM:152700] Malaria, resistance to [MIM:611162]
FCGR2C	Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)	1q23	Thrombocytopenic purpura, autoimmune [MIM:188030]
FCGR3A	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	1q23	Lupus erythematosus, systemic, susceptibility [MIM:152700] Neutropenia, alloimmune neonatal Viral infections, recurrent
FCGR3B	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	1q23	autoimmune thyroiditis,recurrent bacterial infections in some FCGR3B deficient people
FCGRT	Fc fragment of IgG, receptor, transporter, alpha	19q13.3	mutations
FCMTE1	familial cortical myoclonic tremor with epilepsy 1	8q24	Epilepsy, myoclonic, benign adult familial
FCMTE2	familial cortical myoclonic tremor with epilepsy 2	2p11.1-q12.2	Epilepsy, myoclonic, benign adult familial, type 2
FCMTE3	familial cortical myoclonic tremor with epilepsy 3	5p15.31-p15.1	Epilepsy, familial adult myoclonic, 3
FCN2	ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin)	9q34	mutations
FCN3	ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen)	1p36.11	mutations
FCP1	F-cell production 1	Xp22.2	Fetal hemoglobin quantitative trait locus 3
FCRL3	Fc receptor-like 3	1q21.2-q22	mutations
FCRL6	Fc receptor-like 6	?	mutations
FDFT1	farnesyl-diphosphate farnesyltransferase 1	8p23.1-p22	mutations
FEB10	Febrile convulsions, familial, 10	3q26.2-q26.33	Febrile convulsions, familial, 10
FEB1	febrile convulsions 1	8q13-q21	Convulsions, familial febrile, 1
FEB2	febrile convulsions 2	19p13.3	Convulsions, familial febrile, 2
FEB4	febrile convulsions 4	5q14.3	Convulsions, familial febrile, 4 [MIM:604352] Usher syndrome, type IIC [MIM:605472]
FEB5	febrile convulsions 5	6q22-q24	Febrile convulsions, familial, 5
FEB6	febrile convulsions 6	18p11.2	Febrile convulsions, familial, 6
FEB7	febrile convulsions 7	21q22	Febrile convulsions, familial, 7
FEB9	Febrile convulsions, familial, 9	3p24.2-p23	Febrile convulsions, familial, 9
FECD2	corneal dystrophy, Fuchs endothelial 2	13pter-q12.13	Corneal dystrophy, Fuchs endothelial, late onset 1
FECD3	Corneal dystrophy, Fuchs endothelial, 3	18q21.2-q21.3	Corneal dystrophy, Fuchs endothelial, 3
FECD5	Corneal dystrophy, Fuchs endothelial, 5	5q33.1-q35.2	Corneal dystrophy, Fuchs endothelial, 5
FECD7	Corneal dystrophy, Fuchs endothelial, 7	9p24.1-p22.1	Corneal dystrophy, Fuchs endothelial, 7
FECH	ferrochelatase	18q21.3	Protoporphyria, erythropoietic, autosomal dominant [MIM:177000] Protoporphyria, erythropoietic, autosomal recessive [MIM:177000]
FEM1A	fem-1 homolog a (C. elegans)	?	mutations
FEN1	flap structure-specific endonuclease 1	11q12	mutations
FEOM3	fibrosis of extraocular muscles, congenital, 3	16q24.2-q24.3	Fibrosis of extraocular muscles, congenital, 3 Fibrosis, congenital, of vertically acting extraocular muscles
FERMT1	fermitin family member 1	20p13	Kindler syndrome [MIM:173650]
FERMT3	fermitin family member 3	11q12	Leukocyte adhesion deficiency, type III [MIM:612840]
FES	feline sarcoma oncogene	15q26.1	mutations
FEV	FEV (ETS oncogene family)	2q36	mutations
FEZF2	FEZ family zinc finger 2	3p14.2	mutations
FFAR1	free fatty acid receptor 1	19q13.1	mutations
FGA	fibrinogen alpha chain	4q28	Dysfibrinogenemia, alpha type, causing bleeding diathesis Dysfibrinogenemia, alpha type, causing recurrent thrombosis Amyloidosis, hereditary renal [MIM:105200] Afibrinogenemia, congenital [MIM:202400]
FGB	fibrinogen beta chain	4q28	Dysfibrinogenemia, beta type Afibrinogenemia, congenital [MIM:202400] Thrombophilia, dysfibrinogenemic
FGD1	FYVE, RhoGEF and PH domain containing 1	Xp11.21	Aarskog-Scott syndrome [MIM:305400] Mental retardation, X-linked syndromic 16
FGD3	FYVE, RhoGEF and PH domain containing 3	8q11.2-q13.2	Glucocorticoid deficiency 3
FGD4	FYVE, RhoGEF and PH domain containing 4	12p11.2	Charcot-Marie-Tooth disease, type 4H [MIM:609311]
FGF10	fibroblast growth factor 10	5p13-p12	Aplasia of lacrimal and salivary glands [MIM:180920] LADD syndrome [MIM:149730]
FGF14	fibroblast growth factor 14	13q34	Spinocerebellar ataxia-27 [MIM:609307]
FGF1	fibroblast growth factor 1 (acidic)	5q31	mutations
FGF20	fibroblast growth factor 20	8p22-p21.3	mutations
FGF22	fibroblast growth factor 22	19p13.3	mutations
FGF23	fibroblast growth factor 23	12p13.3	Hypophosphatemic rickets, autosomal dominant [MIM:193100] Osteomalacia, tumor-induced Tumoral calcinosis, hyperphosphatemic, familial [MIM:211900]
FGF2	fibroblast growth factor 2 (basic)	4q25-q27	mutations
FGF3	fibroblast growth factor 3	11q13	Deafness, congenital with inner ear agenesis, microtia, and microdontia [MIM:610706]
FGF8	fibroblast growth factor 8 (androgen-induced)	10q24	Kallmann syndrome 6 [MIM:612702]
FGF9	fibroblast growth factor 9 (glia-activating factor)	13q11-q12	Multiple synostoses syndrome 3 [MIM:612961]
FGFBP1	fibroblast growth factor binding protein 1	4p15.3	mutations
FGFR1OP	FGFR1 oncogene partner	6q27	Myeloproliferative disorder
FGFR1	fibroblast growth factor receptor 1	8p11.2-p11.1	Pfeiffer syndrome [MIM:101600] Jackson-Weiss syndrome [MIM:123150] Kallmann syndrome 2 [MIM:147950] Hypogonadotropic hypogonadism [MIM:146110] Osteoglophonic dysplasia [MIM:166250] Trigonocephaly [MIM:190440]
FGFR2	fibroblast growth factor receptor 2	10q26	Crouzon syndrome [MIM:123500] Jackson-Weiss syndrome [MIM:123150] Beare-Stevenson cutis gyrata syndrome [MIM:123790] Pfeiffer syndrome [MIM:101600] Apert syndrome [MIM:101200] Saethre-Chotzen syndrome [MIM:101400] Craniosynostosis, nonspecific Gastric cancer, somatic [MIM:137215] Craniofacial-skeletal-dermatologic dysplasia Antley-Bixler syndrome [MIM:207410] Scaphocephaly and Axenfeld-Rieger anomaly LADD syndrome [MIM:149730] Scaphocephaly, maxillary retrusion, and mental retardation [MIM:609579]
FGFR3	fibroblast growth factor receptor 3	4p16.3	Achondroplasia [MIM:100800] Hypochondroplasia [MIM:146000] Thanatophoric dysplasia, type I [MIM:187600] Crouzon syndrome with acanthosis nigricans [MIM:612247] Muenke syndrome [MIM:602849] Bladder cancer, somatic [MIM:109800] Colorectal cancer, somatic [MIM:109800] Cervical cancer, somatic [MIM:603956] LADD syndrome [MIM:149730] CATSHL syndrome [MIM:610474] Nevus, keratinocytic, nonepidermolytic [MIM:162900] Thanatophoric dysplasia, type II [MIM:187601]
FGFR4	fibroblast growth factor receptor 4	5q35.1-qter	Cancer progression/metastasis
FGFRL1	fibroblast growth factor receptor-like 1	4p16	mutations
FGG	fibrinogen gamma chain	4q28	Dysfibrinogenemia, gamma type Hypofibrinogenemia, gamma type Thrombophilia, dysfibrinogenemic
FGQTL1	Fasting plasma glucose level QTL 1	2q24-q32	Fasting plasma glucose level QTL 1
FGQTL2	Fasting plasma glucose level QTL2	7p15-p13	Fasting plasma glucose level QTL 2 Birth weight QTL 1
FGQTL3	Fasting plasma glucose level QTL3	11q21-q22	Fasting plasma glucose level QTL 3
FGQTL4	Fasting plasma glucose level QTL 4	7p21.2	Fasting plasma glucose level QTL 4
FGQTL6	Fasting plasma glucose level QTL 6	3q21	Fasting plasma glucose level QTL 6 Birth weight QTL 3 Plasma glucose, 2-hour, QTL 1
FGS2	FG syndrome 2	Xq28	FG syndrome 2
FGS3	FG syndrome 3	Xp22.3	FG syndrome 3
FGS5	FG syndrome 5	Xq22.3	FG syndrome 5
FHA2	Hyperaldosteronism, familial, type II	7p22	Hyperaldosteronism, familial, type II
FHASD	Foveal hypoplasia and anterior segment dysgenesis	16q23.2-q24.2	Foveal hypoplasia and anterior segment dysgenesis
FHL1	four and a half LIM domains 1	Xq27.2	Scapuloperoneal myopathy, X-linked dominant [MIM:300695] Myopathy, X-linked, with postural muscle atrophy [MIM:300696] Myopathy, reducing body, X-linked, severe early-onset [MIM:300717] Myopathy, reducing body, X-linked, childhood-onset [MIM:300718] Emery-Dreifuss muscular dystrophy 6 [MIM:300696]
FHL2	four and a half LIM domains 2	2q12-q14	mutations
FHQTL	Fetal hemoglobin QTL on chromosome 8	8q	Fetal hemoglobin quantitative trait locus 4
FH	fumarate hydratase	1q42.1	Fumarase deficiency [MIM:606812] Multiple cutaneous and uterine leiomyomata [MIM:150800] Leiomyomatosis and renal cell cancer [MIM:605839]
FIG4	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	6q21	Charcot-Marie-Tooth disease, type 4J [MIM:611228] Amyotrophic lateral sclerosis 11 [MIM:612577]
FIGLA	folliculogenesis specific basic helix-loop-helix	2p12	Premature ovarian failure 6 [MIM:612310]
FIMG1	myasthenia gravis, familial infantile, 1	17p13	Myasthenia, familial infantile, 1
FIP1L1	FIP1 like 1 (S. cerevisiae)	4q12	mutations
FKBP10	FK506 binding protein 10, 65 kDa	17q21.2	Osteogenesis imperfecta, type VI [MIM:610698]
FKBP14	FK506 binding protein 14, 22 kDa	?	mutations
FKBP5	FK506 binding protein 5	6p21.3-p21.2	Major depressive disorder and accelerated response to antidepressant drug treatment [MIM:608516]
FKBP6	FK506 binding protein 6, 36kDa	7q11.23	mutations
FKBPL	FK506 binding protein like	?	mutations
FKRP	fukutin related protein	19q13.3	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 [MIM:613153] Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 [MIM:606612] Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 [MIM:607155]
FKTN	fukutin	9q31	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [MIM:253800] Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 [MIM:613152] Cardiomyopathy, dilated, 1X [MIM:611615] Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 [MIM:611588]
FL1	Follicular lymphoma, susceptibility to, 1	6p21.33	Follicular lymphoma, susceptibility to, 1
FLCN	folliculin	17p11.2	Birt-Hogg-Dube syndrome [MIM:135150] Pneumothorax, primary spontaneous [MIM:173600] Renal carcinoma, chromophobe, somatic [MIM:144700] Colorectal cancer, somatic [MIM:114500]
FLD1	Fatty liver disease 1, susceptiblity to	22q13	Fatty liver disease, nonalcoholic, susceptibility to, 1
FLG	filaggrin	1q21	Ichthyosis vulgaris [MIM:146700] Dermatitis, atopic, susceptibility to, 2 [MIM:605803]
FLNA	filamin A, alpha	Xq28	Heterotopia, periventricular [MIM:300049] Otopalatodigital syndrome, type I [MIM:311300] Otopalatodigital syndrome, type II [MIM:304120] Intestinal pseudoobstruction, neuronal [MIM:300048] Melnick-Needles syndrome [MIM:309350] Frontometaphyseal dysplasia [MIM:305620] Heterotopia, periventricular, ED variant [MIM:300537] FG syndrome 2 [MIM:300321] Cardiac valvular dysplasia, X-linked [MIM:314400] Terminal osseous dysplasia [MIM:300244]
FLNB	filamin B, beta	3p14.3	Spondylocarpotarsal synostosis syndrome [MIM:272460] Larsen syndrome [MIM:150250] Atelostogenesis, type I [MIM:108720] Atelosteogenesis, type III [MIM:108721] Boomerang dysplasia [MIM:112310]
FLNC	filamin C, gamma	7q32	Myopathy, myofibrillar, filamin C-related [MIM:609524]
FLT1	fms-related tyrosine kinase 1	13q12	mutations
FLT3	fms-related tyrosine kinase 3	13q12	Leukemia, acute myeloid, reduced survival in Leukemia, acute myeloid [MIM:601626] Leukemia, acute lymphoblastic
FLT4	fms-related tyrosine kinase 4	5q35.3	Lymphedema, hereditary I [MIM:153100] Hemangioma, capillary infantile, somatic [MIM:602089]
FLVCR1	feline leukemia virus subgroup C cellular receptor 1	1q31.3	Ataxia, posterior column, with retinitis pigmentosa [MIM:609033]
FLVCR2	feline leukemia virus subgroup C cellular receptor family, member 2	14q24.3	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome [MIM:225790]
FMN1	formin 1	15q13-q14	mutations
FMN2	formin 2	1q23-q32	mutations
FMO1	flavin containing monooxygenase 1	1q23-q25	mutations
FMO2	flavin containing monooxygenase 2 (non-functional)	1q23-q25	mutations
FMO3	flavin containing monooxygenase 3	1q23-q25	Trimethylaminuria [MIM:602079]
FMO4	flavin containing monooxygenase 4	1q23-q25	mutations
FMO5	flavin containing monooxygenase 5	1q21.1	mutations
FMO6P	flavin containing monooxygenase 6 pseudogene	?	mutations
FMR1	fragile X mental retardation 1	Xq27.3	Fragile X syndrome [MIM:300624] Fragile X tremor/ataxia syndrome [MIM:300623]
FMTLE	Epilepsy, familial mesial temporal lobe	4q13.2-q21.3	Epilepsy, familial mesial temporal lobe
FN1	fibronectin 1	2q34	Glomerulopathy with fibronectin deposits 2 [MIM:601894]
FN3K	fructosamine 3 kinase	?	mutations
FND	frontonasal dysplasia	Xq12	Craniofrontonasal dysplasia [MIM:304110]
FOLH1	folate hydrolase (prostate-specific membrane antigen) 1	11p11.2	mutations
FOLR1	folate receptor 1 (adult)	11q13.3-q13.5	Neurodegeneration due to cerebral folate transport deficiency [MIM:613068]
FOXA1	forkhead box A1	14q13	mutations
FOXA2	forkhead box A2	20p11	mutations
FOXA3	forkhead box A3	19q13.2-q13.4	mutations
FOXC1	forkhead box C1	6p25	Iridogoniodysgenesis, type 1 [MIM:601631] Rieger or Axenfeld anomalies [MIM:602482] Axenfeld-Rieger syndrome, type 3 [MIM:602482] Iris hypoplasia and glaucoma [MIM:601631]
FOXC2	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	16q24.3	Lymphedema-distichiasis syndrome [MIM:153400] Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus [MIM:153400]
FOXD3	forkhead box D3	1p31	Autoimmune disease, susceptibility to, 1 [MIM:607836]
FOXD4	forkhead box D4	9p1-q1	mutations
FOXE1	forkhead box E1 (thyroid transcription factor 2)	9q22	Bamforth-Lazarus syndrome [MIM:241850]
FOXE3	forkhead box E3	1p32	Anterior segment mesenchymal dysgenesis [MIM:107250] Aphakia, congenital primary [MIM:610256]
FOXF1	forkhead box F1	16q24	Alveolar capillary dysplasia with misalignment of pulmonary veins [MIM:265380]
FOXF2	forkhead box F2	6p25.3	mutations
FOXG1	forkhead box G1	14q13	Rett syndrome, congenital variant [MIM:613454]
FOXH1	forkhead box H1	8q24.3	mutations
FOXI1	forkhead box I1	5q34	Enlarged vestibular aqueduct [MIM:600791]
FOXL1	forkhead box L1	16q24.1	mutations
FOXL2	forkhead box L2	3q23	Blepharophimosis, epicanthus inversus, and ptosis, type 1 [MIM:110100] Blepharophimosis, epicanthus inversus, and ptosis, type 2 [MIM:110100] Premature ovarian failure 3 [MIM:608996]
FOXN1	forkhead box N1	17q11-q12	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [MIM:601705]
FOXO1	forkhead box O1	13q14.1	Rhabdomyosarcoma, alveolar [MIM:268220]
FOXP1	forkhead box P1

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