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Genes Associated with Diseases

Expression patterns in normal tissues for genes affiliated with Gaucher's Disease
Expression patterns for genes affiliated with a disease
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 defects, and deafness.
For comprehensive information about human diseases, visit MalaCards, our integrated database of human maladies and their annotations.

10,464 "disease genes" are currently present in the GeneCards database
This is a partial list of 5,000 genes. The complete list contains 10,464 genes.

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The genes listed here cause, predispose or protect from diseases

GeneCards Gene Gene Name Locus MalaCards Disorders (sorted by relevance)
3.8-1.2 HLA complex group 26 (non-protein coding) pseudogene 6p21.3 neuropathy,  anterior ischemic optic neuropathy,  arteritic anterior ischemic optic neuropathy non-arteritic anterior ischemic optic neuropathy
A1BG alpha-1-B glycoprotein 19q13.43 pancreatic ductal adenocarcinoma
A1CF APOBEC1 complementation factor 10q11.23 amblyopia anisometropia
A2M alpha-2-macroglobulin 12p13.31 alzheimers disease,  argyrophilic grain disease,  alpha-2-macroglobulin deficiency senile systemic amyloidosis
A2ML1 alpha-2-macroglobulin-like 1 12p13.31 paraneoplastic pemphigus
A4GALT alpha 1,4-galactosyltransferase 22q13.2 nor polyagglutination syndrome
AA1 Alopecia areata 1 18p11.3-p11.2 alopecia alopecia areata 1
AA2 Alopecia areata 2 16q11-q22 alopecia alopecia areata 2
AAA1 aortic aneurysm, familial abdominal 1 19q13 abdominal aortic aneurysm aneurysm
AAA2 Aortic aneurysm, familial abdominal 2 4q31 aneurysm,  aortic aneurysm "aortic aneurysm, familial abdominal 2"
AAA3 Aneurysm, familial abdominal 3 9p21 aneurysm "aneurysm, familial abdominal 3"
AAA4 Aortic aneurysm, familial abdominal, 4 12q13.3 aneurysm,  aortic aneurysm "aortic aneurysm, familial abdominal, 4"
AAAS achalasia, adrenocortical insufficiency, alacrimia 12q13.13 abdominal aortic aneurysm,  adrenocortical insufficiency,  idiopathic achalasia,  achalasia,  dysphagia,  triple-a syndrome,  achalasia-addisonianism-alacrima syndrome "alacrima, achalasia, and mental retardation syndrome" Show all 8
AADAC arylacetamide deacetylase 3q25.1 neutral lipid storage disease,  lipid storage disease ectropion
AADAT aminoadipate aminotransferase 4q33 huntingtons disease
AAGAB alpha- and gamma-adaptin binding protein 15q23 palmoplantar keratosis,  keratoderma "keratoderma, palmoplantar, punctate type ia"
AAMP angio-associated, migratory cell protein 2q35 adenocarcinoma,  colon adenocarcinoma coronary restenosis
AANAT aralkylamine N-acetyltransferase 17q25.1 bipolar i disorder,  pineocytoma delayed sleep phase syndrome
AARS alanyl-tRNA synthetase 16q22.1 charcot-marie-tooth neuropathy type 2,  charcot-marie-tooth disease type 2,  mitochondrial cardiomyopathy,  charcot-marie-tooth neuropathy type 2n "charcot-marie-tooth disease, axonal, type 2n"
AARS2 alanyl-tRNA synthetase 2, mitochondrial 6p21.1 mitochondrial cardiomyopathy combined oxidative phosphorylation deficiency 8
AASS aminoadipate-semialdehyde synthase 7q31.32 hyperlysinemia,  saccharopinuria ,  breast lymphoma peliosis hepatis
AASTH1 Allergic/atopic asthma related QTL 1 asthma
AASTH10 Allergic/atopic asthma related QTL 10 asthma
AASTH11 Allergic/atopic asthma related QTL 11 asthma
AASTH12 Allergic/atopic asthma related QTL 12 asthma
AASTH13 Allergic/atopic asthma related QTL 13 asthma
AASTH14 Allergic/atopic asthma related QTL 14 asthma
AASTH15 Allergic/atopic asthma related QTL 15 asthma
AASTH16 Allergic/atopic asthma related QTL 16 asthma
AASTH17 Allergic/atopic asthma related QTL 17 asthma
AASTH18 Allergic/atopic asthma related QTL 18 asthma
AASTH2 Allergic/atopic asthma related QTL 2 asthma
AASTH20 Allergic/atopic asthma related QTL 20 asthma
AASTH21 Allergic/atopic asthma related QTL 21 asthma
AASTH22 Allergic/atopic asthma related QTL 22 asthma
AASTH23 Allergic/atopic asthma related QTL 23 asthma
AASTH24 Allergic/atopic asthma related QTL 24 asthma
AASTH25 Allergic/atopic asthma related QTL 25 asthma
AASTH26 Allergic/atopic asthma related QTL 25 asthma
AASTH27 Allergic/atopic asthma related QTL 27 asthma
AASTH28 Allergic/Atopic asthma related QTL 28 asthma
AASTH29 Allergic/Atopic asthma related QTL 29 asthma
AASTH30 Allergic/atopic asthma related QTL 30 asthma
AASTH32 Allergic/Atopic asthma related QTL 32 asthma
AASTH33 Allergic/atopic asthma related QTL 33 asthma
AASTH34 Allergic/atopic asthma related QTL 34 asthma
AASTH35 Allergic/atopic asthma related QTL 35 asthma
AASTH36 Allergic/atopic asthma related QTL 36 asthma
AASTH37 Allergic/atopic asthma related QTL 37 asthma
AASTH38 Allergic/atopic asthma related QTL 38 asthma
AASTH39 Allergic/atopic asthma related QTL 39 asthma
AASTH4 Allergic/atopic asthma related QTL 4 asthma
AASTH40 Allergic/atopic asthma related QTL 40 asthma
AASTH41 Allergic/Atopic asthma related QTL 41 asthma
AASTH42 Allergic/atopic asthma related QTL 42 asthma
AASTH43 Allergic/atopic asthma related QTL 43 asthma
AASTH44 Allergic/atopic asthma related QTL 44 asthma
AASTH47 Allergic/atopic asthma related QTL 47 asthma
AASTH48 Allergic/atopic asthma related QTL 48 asthma
AASTH49 Allergic/atopic asthma related QTL 49 asthma
AASTH5 Allergic/atopic asthma related QTL 5 asthma
AASTH50 Allergic/atopic asthma related QTL 50 asthma
AASTH51 Allergic/atopic asthma related QTL 51 asthma
AASTH52 Allergic/atopic asthma related QTL 52 asthma
AASTH53 Allergic/atopic asthma related QTL 53 asthma
AASTH54 Allergic/atopic asthma related QTL 54 asthma
AASTH55 Allergic/atopic asthma related QTL 5 asthma
AASTH56 Allergic/Atopic asthma related QTL 56 asthma
AASTH6 Allergic/atopic asthma related QTL 6 asthma
AASTH7 Allergic/atopic asthma related QTL 7 asthma
AASTH8 Allergic/atopic asthma related QTL 8 asthma
AASTH9 Allergic/atopic asthma related QTL 9 asthma
AAT1 Aortic aneurysm, familial thoracic 1 11q23.3-q24 aneurysm "aortic aneurysm, familial thoracic 1"
AAT2 Aortic aneurysm, familial thoracic 2 5q13-q14 aneurysm,  aortic aneurysm "aortic aneurysm, familial thoracic 2"
AATK apoptosis-associated tyrosine kinase 17q25.3 neuroblastoma
AAVS1 adeno-associated virus integration site 1 19q13|19q13-qter herpes simplex
ABAT 4-aminobutyrate aminotransferase 16p13.2 schizophrenia,  early myoclonic encephalopathy,  hypotonia,  succinic semialdehyde dehydrogenase deficiency,  stiff-person syndrome,  homocarnosinosis,  lennox-gastaut syndrome,  cap myopathy,  cap myopathy 1 ,  gaba aminotransferase deficiency asphyxia neonatorum Show all 11
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 9q31.1 coronary artery disease,  scott syndrome,  syringomyelia,  familial hypercholesterolemia,  chediak-higashi syndrome,  hypoalphalipoproteinemia,  artery disease,  atherosclerosis,  "xeroderma pigmentosum, group c",  tangier disease,  cholesteryl ester storage disease,  hypercholesterolemia,  hyperalphalipoproteinemia,  familial hdl deficiency,  "coronary artery disease in familial hypercholesterolemia, protection against",  lysosomal acid lipase deficiency,  abca1-associated familial high density lipoprotein deficiency,  abca1-related disorders lewis-sumner syndrome Show all 19
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 2q35 autosomal recessive congenital ichthyosis,  "ichthyosis, congenital, autosomal recessive 2",  "ichthyosis, congenital, autosomal recessive 1",  ichthyosis vulgaris,  ectropion,  harlequin type ichthyosis,  "ichthyosis, congenital, autosomal recessive 4a",  "ichthyosis, autosomal recessive 4b" abca12-related autosomal recessive congenital ichthyosis Show all 9
ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2 9q34.3 developmental coordination disorder neuroma
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 16p13.3 surfactant dysfunction,  "surfactant metabolism dysfunction, pulmonary, 1",  pulmonary surfactant metabolism dysfunction,  "surfactant metabolism dysfunction, pulmonary, 3" abca3-related pulmonary surfactant metabolism dysfunction
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1p22.1 leber congenital amaurosis,  age related macular degeneration,  retinitis pigmentosa,  toxoplasmosis,  congenital toxoplasmosis,  cone-rod dystrophy 2,  cone-rod dystrophy,  stargardt macular degeneration,  stargardt disease,  retinitis pigmentosa 3,  fundus flavimaculatus,  "retinal dystrophy, early-onset, severe",  macular holes,  scotoma,  retinitis pigmentosa 19 ,  abca4-related retinitis pigmentosa,  abca4-related stargardt disease 1,  age-related macular degeneration 2 cone-rod dystrophy 3 Show all 19
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5 17q24.3 gingival fibromatosis with hypertrichosis
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 7q21.12 myeloma,  soft tissue sarcoma,  breast cancer,  pervasive developmental disorder,  acute myeloid leukemia,  vaginitis,  lung cancer,  microsporidiosis,  ileus,  plasmablastic lymphoma,  postural hypotension,  uterine sarcoma,  neonatal abstinence syndrome,  cannabis dependence,  engraftment syndrome,  ovarian cystadenocarcinoma,  warfarin sensitivity,  colchicine resistance,  5-fluorouracil toxicity,  paralytic ileus,  acute non lymphoblastic leukemia inflammatory bowel disease 13 Show all 22
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 2q31.1 lung cancer,  cholestasis,  intrahepatic cholestasis,  liver disease,  benign recurrent intrahepatic cholestasis,  "cholestasis, intrahepatic, of pregnancy, 1",  intrahepatic cholestasis of pregnancy,  colchicine resistance,  "cholestasis, progressive familial intrahepatic 2",  low gamma-gt familial intrahepatic cholestasis,  benign recurrent intrahepatic cholestasis 2 abcb11-related intrahepatic cholestasis Show all 12
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 7q21.12 cholangitis,  adult syndrome,  cholestasis,  intrahepatic cholestasis,  choledocholithiasis,  gallbladder disease,  alagille syndrome,  "cholestasis, intrahepatic, of pregnancy, 1",  intrahepatic cholestasis of pregnancy,  cholelithiasis,  "cholestasis, progressive familial intrahepatic 3",  gallbladder disease 1 "cholestasis, intrahepatic, of pregnancy, 3" Show all 13
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 2q35 matthew-wood syndrome,  kleptomania,  stereotypic movement disorder,  coloboma,  adrenoleukodystrophy,  exhibitionism,  dyschromatosis universalis hereditaria,  "microphthalmia, isolated, with coloboma 7",  familial pseudohyperkalemia dyschromatosis universalis hereditaria 3 Show all 10
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 Xq13.3 myocardial infarction,  pearson syndrome,  x-linked sideroblastic anemia with ataxia,  x-linked sideroblastic anemia,  sideroblastic anemia,  alcohol abuse,  viral hepatitis,  leukopenia,  liver disease,  syphilis,  congenital syphilis,  sleeping sickness,  nephropathia epidemica,  portal vein thrombosis,  x-linked cerebellar ataxia,  refractory anemia,  chikungunya,  giant hemangioma,  majeed syndrome,  sideroblastic anemia with spinocerebellar ataxia "anemia, sideroblastic, with ataxia" Show all 21
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 16p13.11 acute myeloid leukemia,  lung cancer,  microsporidiosis,  dubin-johnson syndrome,  cholestasis,  intraocular lymphoma,  pseudoxanthoma elasticum,  cholangiolocellular carcinoma,  colchicine resistance intraocular retinoblastoma Show all 10
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 16q12.1 dubin-johnson syndrome
ABCC12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 16q12.1 breast cancer dubin-johnson syndrome
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 10q24.2 lung cancer,  cholangitis,  factor vii deficiency,  dubin-johnson syndrome,  ovarian cancer,  cholestasis,  rotor syndrome,  fallopian tube cancer,  dysembryoplastic neuroepithelial tumor intrahepatic cholestasis of pregnancy Show all 10
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 17q21.33 extrahepatic cholestasis,  dubin-johnson syndrome,  obstructive jaundice cholangiolocellular carcinoma
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 13q32.1 lung cancer
ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 3q27.1 lymphoblastic leukemia dysembryoplastic neuroepithelial tumor
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 16p13.11 arterial calcification of infancy,  dubin-johnson syndrome,  angioid streaks,  "arterial calcification, generalized, of infancy, 1",  "pseudoxanthoma elasticum, modifier of severity of",  pseudoxanthoma elasticum,  elastosis perforans serpiginosa,  left ventricular noncompaction 9 ,  acquired pseudoxanthoma elasticum,  "arterial calcification, generalized, of infancy, 2" "pseudoxanthoma elasticum, forme fruste" Show all 11
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 11p15.1 diabetes mellitus,  "diabetes mellitus, noninsulin-dependent",  hypoglycemia,  monogenic diabetes,  autosomal dominant disease,  hemihypertrophy,  transient neonatal diabetes mellitus,  permanent neonatal diabetes mellitus,  "maturity-onset diabetes of the young, type 1",  familial hyperinsulinism ,  leucine-sensitive hypoglycemia of infancy,  hyperinsulinemic hypoglycemia,  hyperinsulinism,  pancreatic agenesis,  acute insulin response,  "diabetes mellitus, 6q24-related transient neonatal",  neonatal diabetes mellitus,  dyshidrosis,  woolly hair syndrome,  "diabetes mellitus, permanent neonatal, with neurologic features",  "diabetes, permanent neonatal",  abcc8-related hyperinsulinism,  "hyperinsulinemic hypoglycemia, familial, 1",  abcc8-related permanent neonatal diabetes mellitus,  "diabetes mellitus, transient neonatal 2" abcc8-related transient neonatal diabetes mellitus 2 Show all 26
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 12p12.1 hypokalemic periodic paralysis,  osteochondrodysplasia,  choroid plexus papilloma,  "atrial fibrillation, familial, 9",  "cardiomyopathy, dilated, 1w",  acromegaloid facial appearance syndrome,  coronary artery vasospasm,  cantu syndrome,  abcc9-related familial atrial fibrillation,  "atrial fibrillation, familial, 12",  "cardiomyopathy, dilated, 1o" abcc9-related dilated cardiomyopathy Show all 12
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 Xq28 adrenomyeloneuropathy,  peroxisomal disease,  spinocerebellar degeneration,  adrenoleukodystrophy,  "deafness, dystonia, and cerebral hypomyelination" "adrenomyeloneuropathy, adult" Show all 6
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2 12q12 peroxisomal disease
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3 1p21.3 peroxisomal disease,  adrenoleukodystrophy zellweger syndrome
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 14q24.3 homocystinuria,  adrenoleukodystrophy,  disorders of intracellular cobalamin metabolism,  "methylmalonic aciduria and homocystinuria, cblj type" cbij
ABCF2 ATP-binding cassette, sub-family F (GCN20), member 2 7q36.1 cystic fibrosis
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 21q22.3 autosomal recessive nonsyndromic deafness,  tangier disease sitosterolemia
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 4q22.1 breast cancer,  acute myeloid leukemia,  choriocarcinoma,  nonpapillary renal cell carcinoma,  adult acute lymphocytic leukemia,  acute lymphocytic leukemia,  dysembryoplastic neuroepithelial tumor erythroplakia Show all 8
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 2p21 familial hypercholesterolemia,  aortic atherosclerosis,  sitosterolemia,  cap myopathy cap myopathy 1
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 2p21 atherosclerosis,  gallbladder disease,  aortic atherosclerosis,  sitosterolemia,  cap myopathy,  cap myopathy 1 gallbladder disease 4 Show all 7
ABHD11 abhydrolase domain containing 11 7q11.23 williams-beuren syndrome
ABHD12 abhydrolase domain containing 12 20p11.21 polyneuropathy,  usher syndrome type 3 "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract"
ABHD5 abhydrolase domain containing 5 3p21.33 systemic primary carnitine deficiency disease,  neutral lipid storage disease lipid storage disease
ABI1 abl-interactor 1 10p12.1 breast cancer,  acute myeloid leukemia,  colon cancer myeloid leukemia
ABL1 c-abl oncogene 1, non-receptor tyrosine kinase 9q34.12 lymphoblastic leukemia,  leukemia,  precursor t-cell acute lymphoblastic leukemia,  chronic myeloid leukemia,  gastrointestinal stromal tumor,  "leukemia, acute lymphoblastic 3",  myeloid leukemia,  acute biphenotypic leukemia,  bone marrow cancer,  philadelphia-negative chronic myeloid leukemia "leukemia, philadelphia chromosome-positive, resistant to imatinib" Show all 11
ABL2 c-abl oncogene 2, non-receptor tyrosine kinase 1q25.2 leukemia "leukemia, acute myeloid, with eosinophilia"
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 9q34.2 malaria blood group incompatibility
ABR active BCR-related 17p13.3 enamel erosion
ABRA actin-binding Rho activating protein 8q23.1 malaria
ABT1 activator of basal transcription 1 6p22.2 spinocerebellar ataxia type 17,  roberts syndrome neuronal intranuclear inclusion disease
AC004862.6 uncharacterized LOC101927269 7q21.11 hepatocellular carcinoma
AC007246.3 uncharacterized LOC728730 2p22.1 obesity
AC007743.1 uncharacterized LOC100129434 2p16.1 hiv-1
AC008697.1 uncharacterized LOC285626 5q33.3 psoriasis,  multiple sclerosis crohns disease
AC009264.1 uncharacterized LOC349160 7q33 migraine
AC009948.5 uncharacterized LOC101927027 2q31.2 parkinsons disease
AC018647.3 uncharacterized LOC100506725 7p14.2 parkinsons disease
AC019117.1 uncharacterized LOC102659288 7p21.1 cholangiocarcinoma intrahepatic cholangiocarcinoma
AC079586.1 uncharacterized LOC151121 2q21.1 neutropenia
AC091878.1 uncharacterized LOC285696 5p15.1 alzheimers disease bipolar disorder
AC097662.2 uncharacterized LOC654841 2q36.3 keratoconus
ACAA1 acetyl-CoA acyltransferase 1 3p22.2 beta-ketothiolase deficiency,  ketothiolase deficiency,  rhizomelic chondrodysplasia punctata thiolase deficiency
ACAA2 acetyl-CoA acyltransferase 2 18q21.1 beta-ketothiolase deficiency,  ketothiolase deficiency,  akinetic mutism mutism
ACACA acetyl-CoA carboxylase alpha 17q12 multiple carboxylase deficiency,  biotin deficiency acetyl-coa carboxylase deficiency
ACACB acetyl-CoA carboxylase beta 12q24.11 biotin deficiency
ACAD11 acyl-CoA dehydrogenase family, member 11 3q22.1 childhood leukemia
ACAD8 acyl-CoA dehydrogenase family, member 8 11q25 mental retardation and microcephaly with pontine and cerebellar hypoplasia isobutyryl-coa dehydrogenase deficiency
ACAD9 acyl-CoA dehydrogenase family, member 9 3q21.3 mitochondrial complex i deficiency ,  mental retardation and microcephaly with pontine and cerebellar hypoplasia ,  acad9 deficiency acyl-coa dehydrogenase 9 deficiency
ACADL acyl-CoA dehydrogenase, long chain 2q34 fatty acid oxidation disorders,  hypoglycemia lcad deficiency
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1p31.1 sudden infant death syndrome,  reye syndrome,  multiple carboxylase deficiency,  fatty acid oxidation disorders,  hypoglycemia,  fasting hypoglycemia,  alcoholic cardiomyopathy medium-chain acyl-coenzyme a dehydrogenase deficiency Show all 8
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 12q24.31 angina pectoris,  diverticulitis,  sudden infant death syndrome,  short-chain acyl-coa dehydrogenase deficiency,  fatty acid oxidation disorders,  riboflavin deficiency ,  systemic primary carnitine deficiency disease,  ethylmalonic encephalopathy,  alexithymia,  carotid artery dissection,  isovaleric acidemia,  infantile hypotonia autoimmune thyroiditis Show all 13
ACADSB acyl-CoA dehydrogenase, short/branched chain 10q26.13 isovaleric acidemia 2-methylbutyryl-coa dehydrogenase deficiency
ACADVL acyl-CoA dehydrogenase, very long chain 17p13.1 pericardial effusion,  sudden infant death syndrome,  fatty acid oxidation disorders,  systemic primary carnitine deficiency disease,  carnitine palmitoyltransferase ii deficiency,  3-hydroxyacyl-coa dehydrogenase deficiency,  very long-chain acyl-coenzyme a dehydrogenase deficiency vitamin b12 deficiency Show all 8
ACAN aggrecan 15q26.1 multiple epiphyseal dysplasia,  spinal stenosis,  exotropia,  short stature,  odontogenic myxoma,  osteochondritis dissecans,  degenerative disc disease,  spondyloepimetaphyseal dysplasia,  tendinopathy,  "vitreoretinopathy, neovascular inflammatory",  lumbar disc herniation,  "spondyloepimetaphyseal dysplasia, aggrecan type",  familial osteochondritis dissecans "spondyloepiphyseal dysplasia, kimberley type" Show all 14
ACAT1 acetyl-CoA acetyltransferase 1 11q22.3 beta-ketothiolase deficiency,  ketothiolase deficiency,  the organic acidemias: an,  organic acidemia,  sitosterolemia,  thiolase deficiency lipid metabolism disorder Show all 7
ACAT2 acetyl-CoA acetyltransferase 2 6q25.3 beta-ketothiolase deficiency,  ketothiolase deficiency,  acetyl coa acetyltransferase 2 deficiency thiolase deficiency
ACBD5 acyl-CoA binding domain containing 5 10p12.1 thrombocytopenia
ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 11p11.2 adenoid cystic carcinoma
ACD adrenocortical dysplasia homolog (mouse) 16q22.1 breast cancer susceptibility
ACE angiotensin I converting enzyme 17q23.3 vascular disease,  myocardial infarction,  coronary artery disease,  type 2 diabetes mellitus,  arterial calcification of infancy,  exophthalmos,  oligohydramnios,  malignant hypertension,  alzheimers disease,  sarcoidosis,  glomerulosclerosis,  subacute cutaneous lupus erythematosus,  cardiac sarcoidosis,  essential hypertension,  left ventricular outflow tract obstruction,  nephrosclerosis,  posterior urethral valves,  posterior urethral valve,  renal tubular dysgenesis,  mitral valve disease,  renal artery disease,  diastolic heart failure,  fibromuscular dysplasia,  renovascular hypertension,  acute mountain sickness,  aortic coarctation,  anterior ischemic optic neuropathy,  diabetic nephropathy,  hypertension,  traumatic brain injury,  brain injury,  retinal artery occlusion,  urinary tract obstruction,  hypoalphalipoproteinemia,  artery disease,  renal hypertension,  histoplasmosis,  end stage renal failure,  normal pressure hydrocephalus,  "polycystic kidney disease, type 1",  angioedema,  tropical calcific pancreatitis,  atherosclerosis,  acute myocardial infarction,  coronary restenosis,  iga glomerulonephritis,  proteinuria,  acute myocarditis,  intestinal tuberculosis,  hepatorenal syndrome,  syndrome of inappropriate antidiuretic hormone,  congestive heart failure,  hypoaldosteronism,  anuria,  arteritic anterior ischemic optic neuropathy,  non-arteritic anterior ischemic optic neuropathy,  granulomatous dermatitis,  aspiration pneumonia,  transposition of the great arteries,  speech disorder,  angioedema induced by ace inhibitors,  glucosephosphate dehydrogenase deficiency,  hypertensive retinopathy,  hypertensive nephropathy,  myocardial infarction 2,  eisenmenger syndrome,  cough variant asthma,  neurosarcoidosis,  "renal tubular dysgenesis, ace-related",  microvascular complications of diabetes 3 ,  "sars, progression of",  "stroke, hemorrhagic",  mesangioproliferative glomerulopathy,  hyporeninemic hypoaldosteronism,  moderate and severe traumatic brain injury,  kanzaki disease,  hepatoportal sclerosis,  cerebral atherosclerosis alcoholic cardiomyopathy Show all 79
ACE2 angiotensin I converting enzyme 2 Xp22.2 malaria,  essential hypertension,  posterior urethral valves,  posterior urethral valve,  hypertension,  hartnup disease,  severe acute respiratory syndrome,  neurogenic hypertension tetanus neonatorum Show all 9
ACER1 alkaline ceramidase 1 19p13.3 lipogranulomatosis farber lipogranulomatosis
ACER2 alkaline ceramidase 2 9p22.1 lipogranulomatosis farber lipogranulomatosis
ACER3 alkaline ceramidase 3 11q13.5 lipogranulomatosis,  farber lipogranulomatosis,  fetal alcohol syndrome partial fetal alcohol syndrome
ACF Asymmetric crying facies (Cayler cardiofacial syndrome) 22q11 velocardiofacial syndrome alzheimers disease
ACHE acetylcholinesterase (Yt blood group) 7q22.1 schizophrenia,  hirschsprungs disease,  myasthenia gravis,  anencephaly,  alzheimers disease,  dementia,  malaria,  orthostatic intolerance ,  tendinosis,  gastroschisis,  rem sleep behavior disorder,  cholinergic urticaria,  memory impairment,  hypermethioninemia,  wernicke-korsakoff syndrome,  intestinal obstruction,  omphalocele,  glaucoma,  postural hypotension,  vascular dementia,  hypohidrosis,  megacolon,  junctional epidermolysis bullosa,  anhidrosis,  colonic pseudo-obstruction,  hypoganglionosis,  endplate acetylcholinesterase deficiency,  aplasia cutis congenita,  abdominal wall defect intestinal pseudo-obstruction Show all 30
ACIN1 apoptotic chromatin condensation inducer 1 14q11.2 breast adenomyoepithelioma
ACKR3 atypical chemokine receptor 3 2q37.3 papillary thyroid carcinoma
ACKR4 atypical chemokine receptor 4 3q22.1 pulmonary sarcoidosis
ACLS acrocallosal syndrome 12p13.3-p11.2 acrocallosal syndrome,  hydrolethalus syndrome 2 joubert syndrome 12
ACO1 aconitase 1, soluble 9p21.1 x-linked sideroblastic anemia with ataxia,  x-linked sideroblastic anemia hyperferritinemia cataract syndrome
ACO2 aconitase 2, mitochondrial 22q13.2 ornithine translocase deficiency infantile cerebellar-retinal degeneration
ACOT11 acyl-CoA thioesterase 11 1p32.3 obesity
ACOT13 acyl-CoA thioesterase 13 6p22.3 cutaneous anthrax larynx verrucous carcinoma
ACOT7 acyl-CoA thioesterase 7 1p36.31 fatty acid oxidation disorders temporal lobe epilepsy
ACOX1 acyl-CoA oxidase 1, palmitoyl 17q25.1 anoxia,  rhizomelic chondrodysplasia punctata,  adrenoleukodystrophy,  pseudoneonatal adrenoleukodystrophy,  peroxisomal acyl-coa oxidase deficiency d-bifunctional protein deficiency Show all 6
ACOX3 acyl-CoA oxidase 3, pristanoyl 4p16.1 mutism
ACP1 acid phosphatase 1, soluble 2p25.3 malaria,  tuberculosis,  leopard syndrome,  polycythemia vera,  bubonic plague,  favism okamoto syndrome Show all 7
ACP2 acid phosphatase 2, lysosomal 11p11.2 lysosomal acid phosphatase deficiency
ACP5 acid phosphatase 5, tartrate resistant 19p13.2 giant cell tumor,  renal osteodystrophy,  hyperparathyroidism,  gauchers disease,  osteoporosis,  hyperthyroidism,  rheumatoid arthritis,  juvenile rheumatoid arthritis,  osteomyelitis,  hairy cell leukemia,  pigmented villonodular synovitis,  villonodular synovitis,  osteonecrosis,  synovitis,  "osteoporosis, postmenopausal",  caveolinopathies,  spondyloenchondrodysplasia with immune dysregulation,  spondyloenchondrodysplasia camurati-engelmann disease Show all 19
ACP6 acid phosphatase 6, lysophosphatidic 1q21.2 atrioventricular septal defect
ACPP acid phosphatase, prostate 3q22.1 prostate cancer,  prostatic hypertrophy,  cloacogenic carcinoma,  adenomatoid tumor,  varicocele,  endodermal sinus tumor,  lymphoepithelioma-like carcinoma,  histoplasmosis,  malignant fibroxanthoma,  intravascular large b-cell lymphoma,  nephrogenic adenoma,  prostatitis,  nephrogenic adenoma of the urethra prostatic adenoma Show all 14
ACPT acid phosphatase, testicular 19q13.33 prostate cancer testicular cancer
ACR acrosin 22q13.33 globozoospermia male infertility due to acrosin deficiency
ACRBP acrosin binding protein 12p13.31 arteriolosclerosis
ACRC acidic repeat containing Xq13.1 appendix adenocarcinoma
ACRPS Acropectoral syndrome 7q36 acropectoral syndrome
ACRPV Acropectorovertebral dysplasia (F syndrome) 2q36 acropectorovertebral dysplasia f form
ACRV1 acrosomal vesicle protein 1 11q24.2 hordeolum
ACSF3 acyl-CoA synthetase family member 3 16q24.3 methylmalonic acidemia combined malonic and methylmalonic aciduria
ACSL3 acyl-CoA synthetase long-chain family member 3 2q36.1 saethre-chotzen syndrome
ACSL4 acyl-CoA synthetase long-chain family member 4 Xq23 "mental retardation, x-linked 17/31, microduplication",  mental retardation,  "mental retardation, x-linked",  colon adenocarcinoma,  alport syndrome,  "alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis" alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis Show all 7
ACSL5 acyl-CoA synthetase long-chain family member 5 10q25.2 colorectal cancer
ACSL6 acyl-CoA synthetase long-chain family member 6 5q31.1 myelodysplastic syndromes,  rippling muscle disease "acute myeloid leukemia, adult"
ACSM3 acyl-CoA synthetase medium-chain family member 3 16p12.3 essential hypertension hypertension
ACSS3 acyl-CoA synthetase short-chain family member 3 12q21.31 fetal alcohol syndrome
ACT actin-like protein (ACT) gene 2q21.1 "cerebrovascular disease, occlusive" alpha-1-antichymotrypsin deficiency
ACTA1 actin, alpha 1, skeletal muscle 1q42.13 "myopathy, congenital, with fiber-type disproportion 1",  congenital fiber-type disproportion,  myopathy,  listeriosis,  congenital myotonic dystrophy,  childhood-onset nemaline myopathy,  typical nemaline myopathy,  intermediate nemaline myopathy,  severe congenital nemaline myopathy,  nance-horan syndrome,  "myopathy, actin, congenital, with excess of thin myofilaments",  "nemaline myopathy 3, autosomal dominant or recessive",  "myopathy, actin, congenital, with cores",  acta1-related congenital fiber-type disproportion,  intranuclear rod myopathy,  nemaline myopathy 3,  childhood restrictive cardiomyopathy,  acta1-related nemaline myopathy,  nemaline myopathy cap myopathy Show all 20
ACTA2 actin, alpha 2, smooth muscle, aorta 10q23.31 moyamoya disease,  aneurysm,  retinitis pigmentosa 17 ,  thoracic aortic aneurysm,  aortic aneurysm,  aortic disease,  scar contracture,  moyamoya disease 5 ,  multisystemic smooth muscle dysfunction syndrome ,  "aortic aneurysm, familial thoracic 6",  acta2-related thoracic aortic aneurysms and aortic dissections,  "aortic aneurysm, familial thoracic 4" thoracic aortic aneurysms and aortic dissections Show all 13
ACTB actin, beta 7p22.1 chorea-acanthocytosis,  tethered spinal cord syndrome,  substernal goiter,  baraitser-winter syndrome,  baraitser-winter syndrome 1 juvenile-onset dystonia Show all 6
ACTC1 actin, alpha, cardiac muscle 1 15q14 papilloma,  scleromyxedema,  juvenile nasopharyngeal angiofibroma,  cavernous hemangioma,  patent foramen ovale,  giant cell tumor,  adenosarcoma,  hemangioma,  teratoma,  sarcomatoid renal cell carcinoma,  cystic teratoma,  ovarian fibrothecoma,  sclerosing hemangioma,  multicystic dysplastic kidney,  familial hypertrophic cardiomyopathy,  hypertrophic cardiomyopathy,  multiple endocrine neoplasia type 2a,  histiocytosis,  desmoplastic small round cell tumor,  mucinous cystadenocarcinoma,  benign schwannoma,  desmoid tumor,  polymorphous low-grade adenocarcinoma,  sweat gland carcinoma,  botryoid rhabdomyosarcoma,  spindle cell carcinoma,  sarcomatoid mesothelioma,  cystic nephroma,  leiomyosarcoma,  spindle cell lipoma,  gastrointestinal stromal tumor,  glomus tumor,  dedifferentiated liposarcoma,  angiosarcoma,  mesenchymal chondrosarcoma,  follicular dendritic cell tumor,  chickenpox,  klebsiella,  fasciitis,  horseshoe kidney,  fibroma,  pulmonary vein stenosis,  ossifying fibromyxoid tumor,  histiocytoma,  epithelioid leiomyosarcoma,  granulosa cell tumor of the ovary,  somatostatinoma,  "cardiomyopathy, dilated, 1w",  dilated cardiomyopathy,  infantile myofibromatosis,  ductal carcinoma in situ,  "left ventricular noncompaction 1, with or without congenital heart defects",  benign metastasizing leiomyoma,  spiradenoma,  syringocystadenoma papilliferum,  myoepithelioma,  glomangioma,  malignant peripheral nerve sheath tumor,  lipomatosis,  leiomyoma,  smooth muscle tumor,  chondromyxoid fibroma,  carney triad,  cutaneous leiomyosarcoma,  dermatofibrosarcoma protuberans,  ganglioglioma,  malignant giant cell tumor of soft parts,  anaplastic ganglioglioma,  malignant giant cell tumor,  angiocentric glioma,  dermatofibrosarcoma,  solitary fibrous tumor,  inflammatory myofibroblastic tumor,  pulmonary sclerosing hemangioma,  myofibroma,  binswangers disease,  bizarre leiomyoma,  leiomyomatosis,  perivascular epithelioid cell tumor,  rhabdoid tumor,  pyogenic granuloma,  disseminated peritoneal leiomyomatosis,  actc1-related familial hypertrophic cardiomyopathy,  "cardiomyopathy, familial hypertrophic, 11",  glomangiomyoma,  atrial septal defect 5 ,  "cardiomyopathy, dilated, 1r",  actc1-related dilated cardiomyopathy,  myxoid leiomyosarcoma,  intravenous leiomyomatosis,  left ventricular noncompaction 4 ,  endometrial stromal sarcoma,  lymphangioma,  hemangiopericytoma angiomyolipoma Show all 95
ACTG1 actin, gamma 1 17q25.3 charcot-marie-tooth disease type 2,  "deafness, autosomal dominant 4b",  usher syndrome type i,  glomus tumor,  aland island eye disease ,  dfna20/26 nonsyndromic hearing loss and deafness,  baraitser-winter syndrome,  "deafness, autosomal dominant 20/26",  baraitser-winter syndrome 2 baraitser-winter syndrome 1 Show all 10
ACTG2 actin, gamma 2, smooth muscle, enteric 2p13.1 legg-calve-perthes disease,  visceral myopathy,  megacystis microcolon intestinal hypoperistalsis syndrome myopathic intestinal pseudoobstruction
ACTL7A actin-like 7A 9q31.3 breast cancer susceptibility,  hypertensive nephropathy riley-day syndrome
ACTL7B actin-like 7B 9q31.3 hypertensive nephropathy riley-day syndrome
ACTL9 actin-like 9 19p13.2 breast and colorectal cancer
ACTN1 actinin, alpha 1 14q24.1 "macrothrombocytopenia, autosomal dominant, tubb1-related" "bleeding disorder, platelet-type, 15"
ACTN2 actinin, alpha 2 1q43 endocardial fibroelastosis,  "cardiomyopathy, dilated, 1w",  infantile onset spinocerebellar ataxia,  "cardiomyopathy, dilated, 1aa",  actn2-related familial hypertrophic cardiomyopathy actn2-related dilated cardiomyopathy Show all 6
ACTN3 actinin, alpha 3 (gene/pseudogene) 11q13.2 dystrophinopathies
ACTN4 actinin, alpha 4 19q13.2 nephrotic syndrome,  familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,  glomerulosclerosis,  focal segmental glomerulosclerosis,  frasier syndrome nephrosis Show all 6
ACTR2 ARP2 actin-related protein 2 homolog (yeast) 2p14 wiskott-aldrich syndrome
ACTR3BP6 ACTR3B pseudogene 6 22q11.1 hiv-1
ACTR3C ARP3 actin-related protein 3 homolog C (yeast) 7q36.1 lung adenoma
ACVR1 activin A receptor, type I 2q24.1 osteochondroma fibrodysplasia ossificans progressiva
ACVR1B activin A receptor, type IB 12q13.13 pituitary tumors "pancreatic carcinoma, somatic"
ACVR1C activin A receptor, type IC 2q24.1 myositis ossificans
ACVR2A activin A receptor, type IIA 2q22.3 multiple synostoses syndrome
ACVR2B activin A receptor, type IIB 3p22.2 dextrocardia,  heterotaxy,  "heterotaxy, visceral, 4, autosomal",  acvr2b-related visceral heterotaxy left-right axis malformations
ACVRL1 activin A receptor type II-like 1 12q13.13 primary pulmonary hypertension,  arteriovenous malformation,  klippel-trenaunay syndrome,  connective tissue disease,  telangiectasis,  weber syndrome,  leiomyosarcoma,  anaplastic large cell lymphoma,  hereditary hemorrhagic telangiectasia,  hereditary hemorrhagic telangiectasia type 2,  angiodysplasia,  pulmonary arteriovenous malformation,  lymphomatoid papulosis,  heritable pulmonary arterial hypertension,  inflammatory myofibroblastic tumor,  mixed connective tissue disease acvrl1-related hereditary hemorrhagic telangiectasia Show all 17
ACY1 aminoacylase 1 3p21.2 lung cancer,  systolic heart failure,  greig cephalopolysyndactyly syndrome aminoacylase 1 deficiency
ACY3 aspartoacylase (aminocyclase) 3 11q13.2 hepatitis c,  hepatitis c virus hepatitis
AD10 Alzheimer disease-10 7q36 alzheimers disease alzheimer disease-10
AD11 Alzheimer disease-11 9p22.1 alzheimers disease alzheimer disease-11
AD12 Alzheimer disease 12 8p12-q22 alzheimers disease alzheimer disease 12
AD13 Alzheimer disease-13 1q21 alzheimers disease alzheimer disease-13
AD14 Alzheimer disease 14 1q25 alzheimers disease alzheimer disease-14
AD15 Alzheimer disease-15 3q22-q24 alzheimers disease alzheimer disease-15
AD16 Alzheimer disease 16 Xq21.3 alzheimers disease alzheimer disease 16
AD17 Alzheimer disease 17 6p21.2 alzheimers disease alzheimer disease 17
AD5 Alzheimer disease 5 12p11.23-q13.12 alzheimers disease alzheimer disease type 5
AD6 Alzheimer disease 6 10q alzheimers disease alzheimer disease 6
AD7 Alzheimer disease 7 10p13 alzheimers disease alzheimer disease-7
AD8 Alzheimer disease 8 20p alzheimers disease alzheimer disease 8
AD9 Alzheimer disease 9 19p13.2 alzheimers disease "alzheimer disease 9, late onset"
ADA adenosine deaminase 20q13.12 pericardial effusion,  gauchers disease,  malaria,  behcets disease,  adenosine deaminase deficiency,  pulmonary tuberculosis,  tuberculosis,  brucellosis,  legionnaires disease,  peritonitis,  macroglobulinemia,  primary immunodeficiency disease,  hemolytic anemia,  viral encephalitis,  cardiac tamponade,  hairy cell leukemia,  intestinal tuberculosis,  severe combined immunodeficiency,  constrictive pericarditis,  pericarditis,  tuberculous meningitis,  miliary tuberculosis,  meningitis,  omenn syndrome,  bacterial meningitis,  tuberculous peritonitis,  abdominal tuberculosis,  aseptic meningitis,  pleurisy,  purine nucleoside phosphorylase deficiency,  extrapulmonary tuberculosis,  congenital hemolytic anemia,  pleural tuberculosis,  inosine triphosphate pyrophosphohydrolase deficiency,  cerebral lymphoma,  reticular dysgenesis,  cauda equina syndrome,  listeria meningitis partial adenosine deaminase deficiency Show all 39
ADAL adenosine deaminase-like 15q15.3 epididymitis
ADAM10 ADAM metallopeptidase domain 10 15q21.3 alzheimers disease,  degos disease,  dowling-degos disease alzheimer disease 18
ADAM11 ADAM metallopeptidase domain 11 17q21.31 breast cancer
ADAM17 ADAM metallopeptidase domain 17 2p25.1 heterotaxy,  atrial septal defect 5 "inflammatory skin and bowel disease, neonatal"
ADAM21P1 ADAM metallopeptidase domain 21 pseudogene 1 14q24.2 adult t-cell leukemia
ADAM22 ADAM metallopeptidase domain 22 7q21.12 limbic encephalitis
ADAM33 ADAM metallopeptidase domain 33 20p13 asthma hfe-associated hereditary hemochromatosis
ADAM3A ADAM metallopeptidase domain 3A (pseudogene) 8p11.22 composite lymphoma
ADAM8 ADAM metallopeptidase domain 8 10q26.3 asthma
ADAM9 ADAM metallopeptidase domain 9 8p11.22 myeloma,  skin melanoma,  cone-rod dystrophy 2,  anuria cone-rod dystrophy 9
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 21q21.3 type 2a von willebrand disease
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 19p13.2 weill-marchesani syndrome,  "weill-marchesani syndrome 1, recessive" adamts10-related weill-marchesani syndrome
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 9q34.2 disseminated intravascular coagulation,  myocardial infarction,  malignant hypertension,  malaria,  hellp syndrome,  antiphospholipid syndrome,  catastrophic antiphospholipid syndrome,  purpura,  von willebrands disease,  type 1 von willebrand disease,  type 2b von willebrand disease,  evans syndrome,  familial thrombotic thrombocytopenia purpura,  "thrombotic thrombocytopenic purpura, congenital" thrombotic thrombocytopenic purpura Show all 15
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 15q26.3 weill-marchesani syndrome weill-marchesani-like syndrome
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 16q23.1 carotid artery occlusion,  knobloch syndrome "microcornea, myopic chorioretinal atrophy, and telecanthus"
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 5q35.3 anosognosia ehlers?àódanlos syndrome dermatosparaxis type
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 12q12 weill-marchesani syndrome
ADAMTSL1 ADAMTS-like 1 9p22.2 malaria,  colonic disease quebec platelet disorder
ADAMTSL2 ADAMTS-like 2 9q34.2 geleophysic dysplasia,  weill-marchesani syndrome,  tracheal stenosis geleophysic dysplasia 1
ADAMTSL3 ADAMTS-like 3 15q25.2 colorectal cancer
ADAMTSL4 ADAMTS-like 4 1q21.3 weill-marchesani syndrome,  adamtsl4-related eye disorders,  "ectopia lentis, isolated autosomal recessive",  ectopia lentis et pupillae "ectopia lentis, familial"
ADAP2 ArfGAP with dual PH domains 2 17q11.2 gastrointestinal lymphoma
ADAR adenosine deaminase, RNA-specific 1q21.3 lymphocytic choriomeningitis,  aicardi-goutieres syndrome,  aicardi-goutieres syndrome 7,  early onset absence epilepsy,  human t-cell leukemia virus type 2,  striatonigral degeneration infantile,  aicardi-goutieres syndrome 6 ,  steatitis,  dyschromatosis symmetrica hereditaria 1 dyschromatosis universalis hereditaria Show all 10
ADAT3 adenosine deaminase, tRNA-specific 3 19p13.3 breast and colorectal cancer "mental retardation, autosomal recessive 36"
ADCK2 aarF domain containing kinase 2 7q34 klippel-feil syndrome
ADCK3 aarF domain containing kinase 3 1q42.13 "spinocerebellar ataxia, autosomal recessive, 9",  cabc1-related coenzyme q10 deficiency "coenzyme q10 deficiency, primary, 4"
ADCK4 aarF domain containing kinase 4 19q13.2 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis "nephrotic syndrome, type 9"
ADCY1 adenylate cyclase 1 (brain) 7p12.3 "deafness, autosomal recessive 76",  adenoma "deafness, autosomal recessive 44"
ADCY10 adenylate cyclase 10 (soluble) 1q24.2 humoral hypercalcemia of malignancy,  cholera,  neuroblastoma,  goiter,  neonatal hypothyroidism,  morphine dependence,  adrenal carcinoma,  brain ischemia,  albrights hereditary osteodystrophy "hypercalciuria, absorptive" Show all 10
ADCY2 adenylate cyclase 2 (brain) 5p15.31 mccune albright syndrome adenoma
ADCY3 adenylate cyclase 3 2p23.3 adenoma,  precocious puberty thyroid adenoma
ADCY4 adenylate cyclase 4 14q12 adenoma
ADCY5 adenylate cyclase 5 3q21.1 adenoma,  precocious puberty,  myokymia,  thyroid adenoma "dyskinesia, familial, with facial myokymia"
ADCY6 adenylate cyclase 6 12q13.12 adenoma,  precocious puberty,  hypomyelination neuropathy - arthrogryposis thyroid adenoma
ADCY7 adenylate cyclase 7 16q12.1 adenoma
ADCY8 adenylate cyclase 8 (brain) 8q24.22 adenoma,  precocious puberty thyroid adenoma
ADCY9 adenylate cyclase 9 16p13.3 adenoma,  precocious puberty,  rubinstein-taybi syndrome thyroid adenoma
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) 18p11.32 schizophrenia,  hirschsprungs disease,  sudden infant death syndrome,  chronic fatigue syndrome,  post-traumatic stress disorder,  "pulmonary disease, chronic obstructive" carpal tunnel syndrome Show all 7
ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 7p14.3 post-traumatic stress disorder
ADD1 adducin 1 (alpha) 4p16.3 essential hypertension,  gastroschisis,  dehydrated hereditary stomatocytosis,  endolymphatic hydrops,  low renin hypertension "hypertension, essential, salt-sensitive" Show all 6
ADD2 adducin 2 (beta) 2p13.3 hypertension,  hereditary elliptocytosis,  chorea-acanthocytosis,  dehydrated hereditary stomatocytosis,  endolymphatic hydrops,  exhibitionism capillariasis Show all 7
ADD3 adducin 3 (gamma) 10q25.1 hypertension,  hereditary elliptocytosis,  dyscalculia,  endolymphatic hydrops "cerebral palsy, spastic quadriplegic, 1"
ADFN albinism-deafness syndrome Xq25-q26|Xq26.3- albinism deafness syndrome
ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide 4q23 alcohol dependence fetal alcohol syndrome
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide 4q23 alcohol dependence,  pancreatitis,  liver cirrhosis,  fetal alcohol syndrome,  alcoholic liver cirrhosis,  alcohol-related birth defect,  "alcohol dependence, protection against" "aerodigestive tract cancer, squamous cell, alcohol-related, protection against" Show all 8
ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide 4q23 parkinsons disease,  alcohol dependence,  alcohol abuse,  pancreatitis,  oral cancer,  liver cirrhosis,  lrrk2-related parkinson disease,  alcoholic liver cirrhosis "alcohol dependence, protection against" Show all 9
ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide 4q23 alcohol dependence,  substance abuse,  alcoholic liver cirrhosis headache
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide 4q23 dermatitis,  rhinitis,  pharyngitis,  contact dermatitis,  focal dermal hypoplasia methanol poisoning Show all 6
ADH5P4 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 4 6q12 hiv-1
ADH6 alcohol dehydrogenase 6 (class V) 4q23 alcohol dependence fetal alcohol spectrum disorder
ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 4q23 alcohol dependence,  squamous cell carcinoma of the head and neck,  gastritis,  atrophic gastritis headache
ADHD1 Attention deficit-hyperactivity disorder, susceptibility to, 1 16p13 attention deficit hyperactivity disorder
ADHD2 Attention deficit-hyperactivity disorder, susceptibility to, 2 17p11 attention deficit hyperactivity disorder
ADHD3 Attention deficit-hyperactivity disorder, susceptibility to, 2 6q12 attention deficit hyperactivity disorder
ADHD4 Attention deficit-hyperactivity disorder, susceptibility to, 4 5p13 attention deficit hyperactivity disorder
ADIPOQ adiponectin, C1Q and collagen domain containing 3q27.3 pre-eclampsia,  carotid intimal medial thickness,  coronary artery disease,  type 2 diabetes mellitus,  insulin resistance,  lipodystrophy,  berardinelli-seip congenital lipodystrophy,  obesity,  sleep apnea,  familial partial lipodystrophy,  nonalcoholic steatohepatitis,  liver disease,  arteriolosclerosis,  glucose intolerance,  polycystic ovary syndrome,  adiponectin deficiency,  arteriosclerosis,  hypertensive retinopathy,  arteriosclerosis obliterans,  laron syndrome,  idiopathic recurrent pericarditis,  lipoatrophic diabetes,  acquired generalized lipodystrophy,  acdc chronic pulmonary heart disease Show all 25
ADIPOR1 adiponectin receptor 1 1q32.1 coronary artery disease,  insulin resistance,  obesity nonalcoholic steatohepatitis
ADIPOR2 adiponectin receptor 2 12p13.33 insulin resistance,  meconium ileus meconium ileus in cystic fibrosis
ADIPQTL2 Circulating adiponectin QTL on chromosome 5 "adiponectin, serum level of, qtl2"
ADIPQTL3 Circulating adiponectin QTL on chromosome 14 "adiponectin, serum level of, qtl3"
ADIPQTL4 Adiponectin, serum level of, QTL4 11q23-q24 systemic lupus erythematosus "adiponectin, serum level of, qtl4"
ADIPQTL5 Adiponectin, serum level of, QTL5 16q23.3 "adiponectin, serum level of, qtl5]"
ADIRF adipogenesis regulatory factor 10q23.2 obesity
ADK adenosine kinase 10q22.2 ischemia,  hypermethioninemia,  rasmussen encephalitis,  fetal alcohol syndrome hypermethioninemia due to adenosine kinase deficiency
ADM adrenomedullin 11p15.4 diabetic retinopathy,  primary pulmonary hypertension,  myocardial infarction,  anaplastic astrocytoma,  adrenomyeloneuropathy,  oligohydramnios,  pituitary adenoma,  malignant hypertension,  essential hypertension,  nephrosclerosis,  pheochromocytoma,  acute myocardial infarction,  al amyloidosis,  congestive heart failure,  kawasaki disease,  leiomyoma,  choroid plexus carcinoma,  macular holes,  cerebral artery occlusion,  functioning pituitary adenoma non-functioning pituitary adenoma Show all 21
ADNP activity-dependent neuroprotector homeobox 20q13.13 "mental retardation, autosomal dominant, 28"
ADORA1 adenosine A1 receptor 1q32.1 ischemia,  brain ischemia,  transient cerebral ischemia retinal ischemia
ADORA2A adenosine A2a receptor 22q11.23 ischemia,  parkinsons disease,  schizophrenia,  huntingtons disease,  syncope,  migraine with aura acute encephalopathy with biphasic seizures and late reduced diffusion Show all 7
ADORA2B adenosine A2b receptor 17p12 priapism
ADORA3 adenosine A3 receptor 1p13.2 ischemia brain ischemia
ADPGK ADP-dependent glucokinase 15q24.1 monogenic diabetes type 1 diabetes mellitus
ADPRH ADP-ribosylarginine hydrolase 3q13.33 mucolipidosis ii,  tyrosinemia,  malaria,  glycine n-methyltransferase deficiency kidney cancer
ADRA1A adrenoceptor alpha 1A 8p21.2 attention deficit hyperactivity disorder ureterolithiasis
ADRA1B adrenoceptor alpha 1B 5q33.3 ureterolithiasis
ADRA1D adrenoceptor alpha 1D 20p13 alpha 1-antitrypsin deficiency impotence
ADRA2A adrenoceptor alpha 2A 10q25.2 cholera,  schizophrenia,  obesity,  gilles de la tourette syndrome,  orthostatic intolerance ,  attention deficit hyperactivity disorder,  irritable bowel syndrome,  constipation,  systolic heart failure motion sickness Show all 10
ADRA2B adrenoceptor alpha 2B 2q11.1 type 2 diabetes mellitus,  essential hypertension,  morbid obesity,  obesity,  orthostatic intolerance ,  neurologic diseases,  coronary restenosis "epilepsy, familial adult myoclonic, 5" Show all 8
ADRA2C adrenoceptor alpha 2C 4p16.3 dyspepsia,  orthostatic intolerance ,  attention deficit hyperactivity disorder,  irritable bowel syndrome,  neurologic diseases,  congestive heart failure,  mood disorder "congestive heart failure and beta-blocker response, modifier of" Show all 8
ADRB1 adrenoceptor beta 1 10q25.3 myocardial infarction,  coronary artery disease,  chagas disease,  essential hypertension,  aortic coarctation,  obesity,  syncope,  orthostatic intolerance ,  myocarditis,  obstructive sleep apnea,  neuroepithelioma,  congestive heart failure,  endomyocardial fibrosis,  meningococcal infection "congestive heart failure and beta-blocker response, modifier of" Show all 15
ADRB2 adrenoceptor beta 2, surface 5q32 asthma,  myocardial infarction,  whim syndrome,  essential hypertension,  acute mountain sickness,  aortic coarctation,  morbid obesity,  obesity,  orthostatic intolerance ,  acute insulin response,  pain disorder,  thyrotoxic periodic paralysis,  status asthmaticus,  "asthma, nocturnal" "beta-2-adrenoreceptor agonist, reduced response to" Show all 15
ADRB3 adrenoceptor beta 3 8p11.23 type 2 diabetes mellitus,  insulin resistance,  essential hypertension,  morbid obesity,  obesity,  hyperuricemia glucose intolerance Show all 7
ADRBK2 adrenergic, beta, receptor kinase 2 22q12.1 whim syndrome
ADSL adenylosuccinate lyase 22q13.1 lesch-nyhan syndrome,  histidinemia,  adenylosuccinate lyase deficiency,  dihydropyrimidine dehydrogenase deficiency adenylosuccinase deficiency
ADSS adenylosuccinate synthase 1q44 relapsing fever
AEBP1 AE binding protein 1 7p13 gastroschisis
AES amino-terminal enhancer of split 19p13.3 autoimmune polyendocrine syndrome type 2
AFA ankyloblepharon filiforme adnatum reserved imperforate anus
AFA1 Alopecia, androgenetic 3q26 "alopecia, androgenetic, 1"
AFAP1L1 actin filament associated protein 1-like 1 5q32 spindle cell sarcoma
AFD1 acrofacial dysostosis 1, Nager type 9q32 nager acrofacial dysostosis
AFF1 AF4/FMR2 family, member 1 4q21.3 chronic neutrophilic leukemia "leukemia, acute lymphoblastic 3"
AFF2 AF4/FMR2 family, member 2 Xq28 mental retardation,  x-linked disease,  fragile x syndrome,  fragile xe syndrome spotted fever
AFF3 AF4/FMR2 family, member 3 2q11.2 fibular aplasia
AFF4 AF4/FMR2 family, member 4 5q31.1 lymphoblastic leukemia
AFG3L2 AFG3-like AAA ATPase 2 18p11.21 ataxia,  hereditary ataxia,  hereditary spastic paraplegia,  "ataxia, spastic, 5, autosomal recessive",  spinocerebellar ataxia type 28 spinocerebellar ataxia type28 Show all 6
AFM afamin 4q13.3 trigonitis squamous papillomatosis
AFP alpha-fetoprotein 4q13.3 hepatocellular carcinoma,  polyhydramnios,  germ cell cancer,  malignant sertoli cell tumor,  extragonadal germ cell tumor,  nonseminomatous germ cell tumor,  malignant germ cell tumor,  anencephaly,  testicular cancer,  hydrocele,  sacrococcygeal teratoma,  neural tube defects,  teratoma,  mixed germ cell tumor,  polyembryoma,  cutis marmorata telangiectatica congenita,  edwards syndrome,  mature teratoma,  endodermal sinus tumor,  dysgerminoma,  oligohydramnios,  central nervous system germ cell tumor,  testicular microlithiasis,  tyrosinemia,  hepatoblastoma,  citrin deficiency,  neonatal intrahepatic cholestasis caused by citrin deficiency,  spina bifida,  viral hepatitis,  liver disease,  gastroschisis,  placenta accreta,  pancreatoblastoma,  acinar cell carcinoma,  sertoli-leydig cell tumor,  hemihypertrophy,  dedifferentiated liposarcoma,  liver sarcoma,  cholangiocarcinoma,  omphalocele,  malignant mixed mullerian tumor,  cystic lymphangioma,  patau syndrome,  leydig cell tumor,  tyrosinemia type i,  hereditary persistence of alpha-fetoprotein,  clear cell adenocarcinoma,  urachal adenocarcinoma,  sertoli cell tumor,  epidermolysis bullosa with pyloric atresia,  abdominal wall defect,  ataxia with oculomotor apraxia type 2,  gliomatosis peritonei,  pineal region teratoma,  spina bifida aperta,  growing teratoma syndrome,  testicular yolk sac tumor congenital deficiency in alpha-fetoprotein Show all 58
AGA aspartylglucosaminidase 4q34.3 retinal drusen,  aspartylglucosaminuria,  lysosomal storage disease,  angiokeratoma,  fucosidosis,  galactosemia rubella Show all 7
AGA2 Alopecia, androgenetic, 2 Xq11-q12 "alopecia, androgenetic, 2" alopecia
AGA3 Alopecia, androgenetic, 3 20p11.22 "alopecia, androgenetic, 3"
AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 12q14.1 diphyllobothriasis anisakiasis
AGBL1 ATP/GTP binding protein-like 1 15q25.3 "corneal dystrophy, fuchs endothelial, 8" corneal dystrophy fuchs endothelial 1
AGER advanced glycosylation end product-specific receptor 6p21.32 vascular disease,  coronary artery disease,  type 2 diabetes mellitus,  noma,  obstructive lung disease,  diabetic angiopathy,  leukostasis diabetic nephropathy Show all 8
AGFG1 ArfGAP with FG repeats 1 2q36.3 choroideremia,  hiv-1 griscelli syndrome
AGFG2 ArfGAP with FG repeats 2 7q22.1 xerophthalmia hiv-1
AGGF1 angiogenic factor with G patch and FHA domains 1 5q13.3 klippel-trenaunay syndrome,  coats disease proteus syndrome
AGK acylglycerol kinase 7q34 bardet-biedl syndrome 11,  mitochondrial dna depletion syndrome,  "cataract, autosomal recessive congenital 5",  cataract and cardiomyopathy,  "cataract 38, autosomal recessive" "cataract 22, autosomal recessive" Show all 6
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1p21.2 glycogen storage disease iii,  glycogen storage disease iiib ,  glycogen storage disease iiia ,  finger agnosia,  glycogen storage disease type 0 glycogen storage disease Show all 6
AGMX2 agammaglobulinemia, X-linked 2 (with growth hormone deficiency) Xp22 agammaglobulinemia x-linked type 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 9q34.3 bardet-biedl syndrome 11,  insulin resistance,  congenital generalized lipodystrophy type 1,  congenital generalized lipodystrophy,  lipodystrophy,  congenital generalized lipodystrophy type 2,  berardinelli-seip congenital lipodystrophy mandibuloacral dysplasia Show all 8
AGPAT9 1-acylglycerol-3-phosphate O-acyltransferase 9 4q21.23 lung cancer
AGPS alkylglycerone phosphate synthase 2q31.2 chondrodysplasia,  "rhizomelic chondrodysplasia punctata, type 3",  photoallergic dermatitis,  rhizomelic chondrodysplasia punctata rhizomelic chondrodysplasia punctata type 2
AGR3 anterior gradient 3 7p21.1 breast cancer
AGRN agrin 1p36.33 agrn-related congenital myasthenic syndrome,  "myasthenic syndrome, congenital, with pre- and postsynaptic defects",  "myasthenia, limb-girdle, familial" hereditary cerebral hemorrhage with amyloidosis
AGRP agouti related protein homolog (mouse) 16q22.1 autism spectrum disorder,  "obesity, late-onset",  overnutrition,  "leanness, inherited",  anorexia nervosa,  morbid obesity,  eating disorder,  prader-willi syndrome obesity Show all 9
AGSPX Angio serpiginosum Xp11.3-q12 angio serpiginosum
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 1q42.2 pre-eclampsia,  diabetic retinopathy,  myocardial infarction,  coronary artery disease,  malignant hypertension,  essential hypertension,  mitral valve prolapse,  posterior urethral valves,  posterior urethral valve,  renal tubular dysgenesis,  mitral valve disease,  renal artery disease,  diastolic heart failure,  fibromuscular dysplasia,  aortic coarctation,  anterior ischemic optic neuropathy,  "renal tubular dysgenesis, agt-related",  familial hypertension,  hypertension,  sick sinus syndrome,  sleep apnea,  gitelman syndrome inflammatory bowel disease Show all 23
AGTR1 angiotensin II receptor, type 1 3q24 mesangial proliferative glomerulonephritis,  usual interstitial pneumonia,  myocardial infarction,  coronary artery disease,  cardiovascular disease risk factor,  malignant hypertension,  "renal tubular dysgenesis, agtr1-related",  essential hypertension,  left ventricular outflow tract obstruction,  hypertensive heart disease,  nephrosclerosis,  mitral valve prolapse,  posterior urethral valves,  posterior urethral valve,  ureteral obstruction,  renal tubular dysgenesis,  hypertensive encephalopathy,  mitral valve disease,  renal artery disease,  in situ carcinoma,  diastolic heart failure,  fibromuscular dysplasia,  renovascular hypertension,  proliferative glomerulonephritis,  acute mountain sickness,  hyperaldosteronism,  aortic coarctation,  anterior ischemic optic neuropathy,  familial hyperaldosteronism,  myocardial stunning,  portal hypertension,  "diabetes, type 2" glomerulonephritis Show all 33
AGTR2 angiotensin II receptor, type 2 Xq23 coronary artery disease,  renal agenesis,  "mental retardation, x-linked 17/31, microduplication",  essential hypertension,  posterior urethral valves,  posterior urethral valve,  myocardial stunning,  hypertrophic scars,  multicystic dysplastic kidney,  hydronephrosis vesicoureteral reflux Show all 11
AGXT alanine-glyoxylate aminotransferase 2q37.3 primary hyperoxaluria primary hyperoxaluria type 1
AGXT2 alanine--glyoxylate aminotransferase 2 5p13.2 primary hyperoxaluria
AHCY adenosylhomocysteinase 20q11.22 adenosine deaminase deficiency,  hyperhomocysteinemia,  hypermethioninemia purine nucleoside phosphorylase deficiency
AHDC1 AT hook, DNA binding motif, containing 1 1p36.11 xia-gibbs syndrome
AHI1 Abelson helper integration site 1 6q23.3 joubert syndrome 21,  joubert syndrome and related disorders,  larsen syndrome,  anterior horn cell disease,  joubert syndrome,  joubert syndrome 14,  ahi1-related joubert syndrome joubert syndrome with ocular anomalies Show all 8
AHNAK2 AHNAK nucleoprotein 2 14q32.33 skeletal muscle regeneration
AHR aryl hydrocarbon receptor 7p21.1 breast cancer,  endometriosis,  choriocarcinoma,  eosinophilic fasciitis,  hepatitis b,  hepatitis,  hydronephrosis,  fasciitis,  toxic oil syndrome clear cell adenocarcinoma Show all 10
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 14q24.3 cannabis abuse
AHSG alpha-2-HS-glycoprotein 3q27.3 insulin resistance,  aortic valve stenosis,  liver cirrhosis,  uremia,  intrahepatic cholestasis of pregnancy alcoholic liver cirrhosis Show all 6
AHSP alpha hemoglobin stabilizing protein 16p11.2 angina pectoris,  myocardial infarction,  coronary artery disease,  beta thalassemia,  malaria,  obstructive lung disease,  essential hypertension,  myocardial stunning,  hyperglycemia,  variant creutzfeldt-jakob disease,  acute myocardial infarction,  cerebral malaria creutzfeldt-jakob disease Show all 13
AIC Aicardi syndrome Xp22 aicardi syndrome
AICDA activation-induced cytidine deaminase 12p13.31 burkitts lymphoma,  chondromalacia,  x-linked hyper igm syndrome,  hairy cell leukemia,  atrophic gastritis,  splenic marginal zone lymphoma,  plasmacytoma,  nijmegen breakage syndrome,  plasma cell neoplasm immunodeficiency with hyper igm type 2 Show all 10
AIF1 allograft inflammatory factor 1 6p21.33 traumatic brain injury,  demyelinating polyneuropathy,  chronic inflammatory demyelinating polyneuropathy myocardial infarction susceptibility
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 Xq26.1 rabies,  encephalomyopathy,  mitochondrial encephalomyopathy,  combined oxidative phosphorylation deficiency 6 cowchock syndrome
AIFM2 apoptosis-inducing factor, mitochondrion-associated, 2 10q22.1 colon cancer
AIG1 androgen-induced 1 6q24.2 amebiasis
AIH3 amelogenesis imperfecta 3, hypomaturation or hypoplastic type Xq22-q28 "amelogenesis imperfecta, type ie, x-linked 2"
AIM1 absent in melanoma 1 6q21 oculocutaneous albinism type 4
AIM2 absent in melanoma 2 1q23.2 melanoma
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 4q24 soft tissue sarcoma,  stromal keratitis,  prostate adenocarcinoma,  fibrosarcoma,  keratitis "leukodystrophy, hypomyelinating 3" Show all 6
AIP aryl hydrocarbon receptor interacting protein 11q13.2 pituitary adenoma,  prolactinoma,  acromegaly,  hepatitis b,  pituitary apoplexy,  hepatitis,  wermer syndrome,  familial isolated pituitary adenoma,  acth-secreting pituitary adenoma,  hormone producing pituitary cancer,  growth hormone secreting pituitary adenoma,  carney complex,  gigantism,  aip-related familial isolated pituitary adenomas myh9-related disorders Show all 15
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 17p13.2 leber congenital amaurosis,  retinal disease,  leber congenital amaurosis 17,  retinitis pigmentosa,  keratoconus,  cone-rod dystrophy 2,  rpe65-related leber congenital amaurosis,  aipl1-related leber congenital amaurosis,  "retinitis pigmentosa, juvenile",  aipl1-related retinitis pigmentosa leber congenital amaurosis 4 Show all 11
AIR Acute insulin response (2) 1p31 hyperglycemia acute insulin response
AIRE autoimmune regulator 21q22.3 vitiligo,  paraneoplastic syndromes,  autoimmune hepatitis,  thymoma,  progressive muscular atrophy,  hypersensitivity reaction type ii disease,  candidiasis,  alopecia,  panniculitis,  alopecia universalis ,  thyroiditis,  addisons disease,  autoimmune retinopathy,  marginal zone b-cell lymphoma,  metaphyseal dysplasia,  parathyroid gland disease,  autoimmune polyendocrine syndrome type 1,  hypoparathyroidism,  demyelinating polyneuropathy,  alopecia areata,  omenn syndrome,  autoimmune polyendocrine syndrome,  chronic inflammatory demyelinating polyneuropathy,  autoimmune thyroiditis "autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia" Show all 25
AIS1 autoimmune susceptibility 1 1p31 autoimmune disease 1
AIS2 autoimmune susceptibility 2 7q11.22 "scoliosis, idiopathic 2" autoimmune disease 2
AIS3 autoimmune susceptibility 3 (vitiligo specific) 8 vitiligo autoimmune disease 3
AIS4 autoimmune disease, susceptibility to, 4 4q13-q21 autoimmune disease 4
AITD1 Autoimmune thyroid disease, susceptibility to, 1 6p11 autoimmune thyroid disease 1
AITD2 Autoimmune thyroid disease, susceptibility to, 2 5q31-q33 autoimmune thyroid disease 2
AITD4 Autoimmune thyroid disease, susceptibility to, 4 10q autoimmune thyroid disease 4
AK1 adenylate kinase 1 9q34.11 hemolytic anemia,  nail-patella syndrome hemolytic anemia due to adenylate kinase deficiency
AK2 adenylate kinase 2 1p35.1 reticular dysgenesis
AK5 adenylate kinase 5 1p31.1 limbic encephalitis
AK7 adenylate kinase 7 14q32.2 reticular dysgenesis
AKAP10 A kinase (PRKA) anchor protein 10 17p11.2 cardiac conduction defect
AKAP12 A kinase (PRKA) anchor protein 12 6q25.1 osteosarcoma
AKAP13 A kinase (PRKA) anchor protein 13 15q25.3 breast cancer relapsing fever
AKAP17A A kinase (PRKA) anchor protein 17A Xp22.33 chronic tic disorder tic disorder
AKAP5 A kinase (PRKA) anchor protein 5 14q23.3 ureterolithiasis canavan disease
AKAP9 A kinase (PRKA) anchor protein 9 7q21.2 long qt syndrome 1 long qt syndrome 11
AKIP1 A kinase (PRKA) interacting protein 1 11p15.4 breast cancer
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase) 1p34.1 alcohol dependence,  liver cirrhosis,  hangover,  fetal alcohol syndrome,  methanol poisoning,  ethylene glycol poisoning alcohol-related birth defect Show all 7
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase) 7q33 diabetic macular edema,  diabetes mellitus,  diabetic nephropathy,  hyperglycemia,  diabetic cataract,  type 1 diabetes mellitus,  polyneuropathy,  polyradiculopathy,  diabetic autonomic neuropathy,  corneal disease,  autonomic neuropathy,  diabetic neuropathy diabetic polyneuropathy Show all 13
AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase) 7q33 usual interstitial pneumonia
AKR1B1P2 aldo-keto reductase family 1, member B1 pseudogene 2 3p13 pulmonary function
AKR1C2 aldo-keto reductase family 1, member C2 10p15.1 ovarian endometriosis,  "obesity, hyperphagia, and developmental delay",  "46xy sex reversal 8, modifier of" 46xy sex reversal 8
AKR1C3 aldo-keto reductase family 1, member C3 10p15.1 asthma
AKR1C4 aldo-keto reductase family 1, member C4 10p15.1 "46xy sex reversal 8, modifier of" 46xy sex reversal 8
AKR1D1 aldo-keto reductase family 1, member D1 7q33 autosomal dominant disease,  "bile acid synthesis defect, congenital, 2" congenital bile acid synthesis defect
AKR7A2 aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) 1p36.13 urinary schistosomiasis,  intermediate charcot-marie-tooth neuropathy,  succinic semialdehyde dehydrogenase deficiency,  schistosomiasis cystadenoma
AKR7A3 aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 1p36.13 adult respiratory distress syndrome
AKT1 v-akt murine thymoma viral oncogene homolog 1 14q32.33 "colorectal cancer, somatic",  colorectal cancer,  breast cancer susceptibility,  breast cancer,  schizophrenia,  male breast cancer,  thymoma,  mitral valve disease,  overnutrition,  proteus syndrome,  ovarian cancer,  leopard syndrome,  autosomal dominant disease,  "ovarian cancer, somatic",  "breast cancer, lobular",  anal squamous cell carcinoma,  "breast cancer, somatic",  nonepidermolytic palmoplantar keratoderma,  ovarian serous cystadenocarcinoma,  cowden syndrome 1,  "breast cancer, early-onset",  serous cystadenocarcinoma,  "breast cancer, protection against",  "breast cancer, invasive ductal",  cystadenocarcinoma,  "polycystic kidney disease, autosomal dominant",  cowden syndrome 6 "proteus syndrome, somatic" Show all 28
AKT2 v-akt murine thymoma viral oncogene homolog 2 19q13.2 type 2 diabetes mellitus,  thymoma,  insulin resistance,  "diabetes, type 2",  "diabetes mellitus, noninsulin-dependent",  "hypertension, insulin resistance-related",  "diabetes mellitus, noninsulin-dependent, late onset",  "diabetes mellitus, type 2, susceptiblity to",  "diabetes mellitus, noninsulin-dependent, 2",  "diabetes mellitus, noninsulin-dependent, association with",  hemihypertrophy,  ovarian epithelial cancer,  warfarin resistance,  hypoinsulinemic hypoglycemia with hemihypertrophy familial partial lipodystrophy due to akt2 mutations Show all 15
AKT3 v-akt murine thymoma viral oncogene homolog 3 1q44 corpus callosum agenesis,  thymoma,  hemimegalencephaly,  megalencephaly,  naxos disease "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic" Show all 6
AKTIP AKT interacting protein 16q12.2 thymic hyperplasia,  balanitis balanitis xerotica obliterans
AL592528.1 uncharacterized LOC100129027 21q22.3 smallpox
ALAD aminolevulinate dehydratase 9q32 amyotrophic lateral sclerosis,  tyrosinemia,  malaria,  erythropoietic protoporphyria,  fanconi syndrome,  hypochromic anemia,  acute intermittent porphyria,  lead poisoning,  acute porphyria,  porphyria,  acute hepatic porphyria,  hereditary coproporphyria,  variegate porphyria,  uremia,  tyrosinemia type i,  porphyria cutanea tarda,  chronic hepatic porphyria cutaneous porphyria Show all 18
ALAS1 aminolevulinate, delta-, synthase 1 3p21.2 x-linked sideroblastic anemia,  acute porphyria acute hepatic porphyria
ALAS2 aminolevulinate, delta-, synthase 2 Xp11.21 congenital erythropoietic porphyria,  pearson syndrome,  x-linked sideroblastic anemia,  erythropoietic protoporphyria,  sideroblastic anemia,  microcytic anemia,  hypochromic anemia,  sickle cell disease,  hemoglobinopathy,  x-linked protoporphyria,  sideroblastic anemia acquired,  pyridoxine-responsive sideroblastic anemia,  "protoporphyria, erythropoietic, x-linked",  x-linked cerebellar ataxia,  "erythropoietic protoporphyria, autosomal recessive" refractory anemia Show all 16
ALB albumin 4q13.3 dysfibrinogenemia,  vascular disease,  pericardial effusion,  type 2 diabetes mellitus,  noma,  nephrotic syndrome,  ovarian hyperstimulation syndrome,  arteriovenous malformation,  hepatitis b,  glomerulosclerosis,  euthyroid sick syndrome,  hyperthyroxinemia,  capillary leak syndrome,  hepatopulmonary syndrome,  acute poststreptococcal glomerulonephritis,  strongyloidiasis,  acute diarrhea,  "amyloidosis, secondary",  acrodermatitis enteropathica,  acrodermatitis,  enteropathica,  essential hypertension,  renovascular hypertension,  glomerulonephritis,  familial hypertension,  kernicterus,  tuberculosis,  pellagra,  blastomycosis,  renal hypertension,  choledocholithiasis,  compartment syndrome,  viral pneumonia,  legionnaires disease,  congenital hepatic fibrosis,  liver disease,  drug-induced hepatitis,  pasteurellosis,  fibrocalculous pancreatic diabetes,  peritonitis,  neonatal stroke,  anal fistula,  decubitus ulcer,  lymphatic system disease,  intestinal obstruction,  intussusception,  calciphylaxis,  polyradiculoneuropathy,  chronic inflammatory demyelinating polyradiculoneuropathy,  bacteriuria,  protein-losing enteropathy,  extrinsic allergic alveolitis,  chronic pyelonephritis,  proteinuria,  hypersplenism,  hepatorenal syndrome,  constrictive pericarditis,  syndrome of inappropriate antidiuretic hormone,  acute kidney failure,  pulmonary arteriovenous malformation,  miliary tuberculosis,  anuria,  congenital myotonic dystrophy,  hepatic tuberculosis,  lead poisoning,  gallbladder disease,  liver cirrhosis,  dysphagia,  cronkhite-canada syndrome,  choanal atresia,  bronchiolitis,  esophageal varix,  scurvy,  adrenocorticotropic hormone deficiency ,  gastroenteritis,  pyelonephritis,  bronchiolitis obliterans organizing pneumonia,  hypersensitivity reaction type iii disease,  analbuminemia,  dysalbuminemic hyperthyroxinemia,  systemic capillary leak syndrome,  immunotactoid glomerulopathy,  congenital analbuminemia,  chylous ascites,  tricuspid atresia,  visceral myopathy,  cap polyposis,  eosinophilic gastroenteritis,  peptic ulcer perforation,  acute generalized exanthematous pustulosis,  "hypoproteinemia, hypercatabolic",  non-immune hydrops fetalis,  yellow nail syndrome,  immune hydrops fetalis,  kwashiorkor,  intestinal lymphangiectasia,  abdominal tuberculosis,  lipoid nephrosis,  marasmus,  hypertensive retinopathy,  berylliosis,  hypertensive nephropathy,  hydrops fetalis,  surfactant dysfunction,  lipoprotein glomerulopathy,  warfarin resistance,  pure red-cell aplasia common cold Show all 108
ALDH16A1 aldehyde dehydrogenase 16 family, member A1 19q13.33 mast syndrome
ALDH18A1 aldehyde dehydrogenase 18 family, member A1 10q24.1 pathological gambling,  multiple mitochondrial dysfunctions syndrome 1 ,  aldh18a1-related cutis laxa "cutis laxa, autosomal recessive, type iiia"
ALDH1A1 aldehyde dehydrogenase 1 family, member A1 9q21.13 gallbladder adenocarcinoma erythroplakia
ALDH1A2 aldehyde dehydrogenase 1 family, member A2 15q21.3 spina bifida hangover
ALDH1A3 aldehyde dehydrogenase 1 family, member A3 15q26.3 "microphthalmia, isolated 2",  anophthalmia/microphthalmia "microphthalmia, isolated 8"
ALDH1B1 aldehyde dehydrogenase 1 family, member B1 9p13.2 succinic semialdehyde dehydrogenase deficiency
ALDH1L1 aldehyde dehydrogenase 1 family, member L1 3q21.3 methanol poisoning
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 12q24.12 alcohol dependence,  gout,  alcohol abuse,  esophageal squamous cell carcinoma,  antisocial personality disorder,  pancreatitis,  esophageal cancer,  liver cirrhosis,  "alcohol sensitivity, acute",  alcoholic neuropathy,  sublingual nitroglycerin poor response to,  "esophageal cancer, alcohol-related",  hangover,  fetal alcohol syndrome alcoholic liver cirrhosis Show all 15
ALDH3A1 aldehyde dehydrogenase 3 family, member A1 17p11.2 hepatocellular carcinoma,  schizophrenia,  breast adenocarcinoma sjogren-larsson syndrome
ALDH3A2 aldehyde dehydrogenase 3 family, member A2 17p11.2 quadriplegia,  spastic diplegia,  genital herpes sjogren-larsson syndrome
ALDH3B1 aldehyde dehydrogenase 3 family, member B1 11q13.2 schizophrenia
ALDH4A1 aldehyde dehydrogenase 4 family, member A1 1p36.13 succinic semialdehyde dehydrogenase deficiency,  hyperprolinemia type 2 hyperprolinemia
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 6p22.3 2-hydroxyglutaric aciduria,  wagr syndrome,  succinic semialdehyde dehydrogenase deficiency,  d-2-hydroxyglutaric aciduria,  juvenile absence epilepsy,  paranoid schizophrenia,  canavan disease homocarnosinosis Show all 8
ALDH6A1 aldehyde dehydrogenase 6 family, member A1 14q24.3 succinic semialdehyde dehydrogenase deficiency methylmalonate semialdehyde dehydrogenase deficiency
ALDH7A1 aldehyde dehydrogenase 7 family, member A1 5q23.2 pyridoxine-dependent epilepsy,  combined oxidative phosphorylation deficiency 11 ,  folinic acid-responsive seizures cortical blindness
ALDH9A1 aldehyde dehydrogenase 9 family, member A1 1q24.1 alcohol dependence,  fetal alcohol spectrum disorder hangover
ALDOA aldolase A, fructose-bisphosphate 16p11.2 lung cancer,  melanoma-associated retinopathy,  glycogen storage disease type 12,  mycetoma,  eumycotic mycetoma glycogen storage disease xii Show all 6
ALDOB aldolase B, fructose-bisphosphate 9q31.1 hepatocellular carcinoma,  mycetoma,  hereditary fructose intolerance syndrome,  amblyopia,  suppression amblyopia eumycotic mycetoma Show all 6
ALDOC aldolase C, fructose-bisphosphate 17q11.2 mycetoma eumycotic mycetoma
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 16p13.3 congenital disorder of glycosylation,  walker-warburg syndrome "congenital disorder of glycosylation, type ik"
ALG10 ALG10, alpha-1,2-glucosyltransferase 12p11.1 long qt syndrome 1 "long qt syndrome, acquired, reduced"
ALG10B ALG10B, alpha-1,2-glucosyltransferase 12q12 drug-induced liver injury due to flucloxacillin
ALG11 ALG11, alpha-1,2-mannosyltransferase 13q14.3 congenital disorder of glycosylation "congenital disorder of glycosylation, type ip"
ALG12 ALG12, alpha-1,6-mannosyltransferase 22q13.33 congenital disorder of glycosylation type 1g
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit Xq23 "mental retardation, x-linked 17/31, microduplication",  "mental retardation, autosomal dominant 8" congenital disorder of glycosylation type i
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit 1p21.3 congenital myasthenic syndrome with tubular aggregates 2
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase 9q22.33 congenital myasthenic syndrome with tubular aggregates 2 congenital disorder of glycosylation type ii
ALG3 ALG3, alpha-1,3- mannosyltransferase 3q27.1 congenital disorder of glycosylation type 1d
ALG6 ALG6, alpha-1,3-glucosyltransferase 1p31.3 protein-losing enteropathy congenital disorder of glycosylation type 1c
ALG8 ALG8, alpha-1,3-glucosyltransferase 11q14.1 congenital disorder of glycosylation type 1h
ALG9 ALG9, alpha-1,2-mannosyltransferase 11q23.1 frontotemporal lobar degeneration with ubiquitin-positive inclusions,  bipolar disorder,  congenital disorder of glycosylation "congenital disorder of glycosylation, type il"
ALK anaplastic lymphoma receptor tyrosine kinase 2p23.1 reticulosarcoma,  neuroblastoma,  primary cutaneous anaplastic large cell lymphoma,  lung cancer,  follicular dendritic cell tumor,  alk+ histiocytosis,  "neuroblastoma, susceptibility",  anaplastic large cell lymphoma,  alk-related neuroblastoma susceptibility,  inflammatory myofibroblastic tumor,  alk-positive large b-cell lymphoma,  alk-positive anaplastic large cell lymphoma,  neuroblastoma 3,  tracheal lymphoma alk-negative anaplastic large cell lymphoma Show all 15
ALKBH3 alkB, alkylation repair homolog 3 (E. coli) 11p11.2 prostate cancer
ALL1 Leukemia, acute lymphocytic, susceptibility to, 1 10q21 "leukemia, acute lymphocytic 1"
ALL2 Leukemia, acute lymphoblastic, susceptibility to, 2 7p12.2 "leukemia, acute lymphoblastic 2"
ALLC allantoicase 2p25.3 lymphogranuloma venereum denture stomatitis
ALMS1 Alstrom syndrome 1 2p13.1 alstrom syndrome
ALMS1P Alstrom syndrome 1 pseudogene 2p13.1 alstrom syndrome
ALOX12 arachidonate 12-lipoxygenase 17p13.1 asthma,  prostate cancer,  osteoporosis,  pancreatic cancer,  essential hypertension,  atherosclerosis essential thrombocythemia Show all 7
ALOX12B arachidonate 12-lipoxygenase, 12R type 17p13.1 meningioma,  autosomal recessive congenital ichthyosis,  "ichthyosis, congenital, autosomal recessive 2",  "ichthyosis, congenital, autosomal recessive 1",  fibrous meningioma alox12b-related autosomal recessive congenital ichthyosis Show all 6
ALOX15 arachidonate 15-lipoxygenase 17p13.2 asthma,  osteoporosis,  atherosclerosis,  prostate adenocarcinoma spinal meningioma
ALOX15B arachidonate 15-lipoxygenase, type B 17p13.1 autosomal recessive congenital ichthyosis prostate adenocarcinoma
ALOX5 arachidonate 5-lipoxygenase 10q11.21 asthma,  primary pulmonary hypertension,  osteoporosis,  urticaria,  meningioma,  arthus reaction,  atherosclerosis,  tuberculous meningitis,  glutathione synthetase deficiency,  "asthma, diminished response to antileukotriene treatment in" paranasal sinus disease Show all 11
ALOX5AP arachidonate 5-lipoxygenase-activating protein 13q12.3 asthma,  coronary artery disease,  osteoporosis,  psoriasis,  atherosclerosis cerebrovascular disease Show all 6
ALOXE3 arachidonate lipoxygenase 3 17p13.1 autosomal recessive congenital ichthyosis,  "ichthyosis, congenital, autosomal recessive 2",  anhidrosis,  "ichthyosis, congenital, autosomal recessive 3" aloxe3-related autosomal recessive congenital ichthyosis
ALPI alkaline phosphatase, intestinal 2q37.1 seminoma,  hypophosphatasia,  gastrointestinal system disease soft palate cancer
ALPL alkaline phosphatase, liver/bone/kidney 1p36.12 hypercalcemia,  meningioma,  choledocholithiasis,  hypophosphatasia,  osteomyelitis,  chronic recurrent multifocal osteomyelitis,  osteitis fibrosa,  "hypophosphatasia, infantile",  odontohypophosphatasia ,  prenatal benign hypophosphatasia,  "hypophosphatasia, adult",  glycosylphosphatidylinositol deficiency cleidocranial dysplasia Show all 13
ALPP alkaline phosphatase, placental 2q37.1 prostate cancer,  hyperparathyroidism,  primary biliary cirrhosis,  malignant sertoli cell tumor,  gestational choriocarcinoma,  placental site trophoblastic tumor,  epithelioid trophoblastic tumor,  choriocarcinoma,  seminoma,  mixed germ cell tumor,  mature teratoma,  endodermal sinus tumor,  central nervous system germinoma,  lymphoepithelioma-like carcinoma,  osteosarcoma,  fascioliasis,  choledocholithiasis,  scrub typhus,  liver disease,  hypophosphatasia,  rosai-dorfman disease,  clear cell chondrosarcoma,  lymphocytic hypophysitis,  aagenaes syndrome,  hepatic tuberculosis,  osteitis fibrosa,  testicular sex cord-stromal tumor,  periostitis,  waardenburg syndrome type i,  "hypophosphatasia, infantile" clear cell adenoma Show all 31
ALPPL2 alkaline phosphatase, placental-like 2 2q37.1 germ cell tumors,  complete androgen insensitivity syndrome,  lipoid adrenal hyperplasia,  seminoma,  choledocholithiasis,  hypophosphatasia,  pleomorphic rhabdomyosarcoma osteitis fibrosa Show all 8
ALPQTL2 Alkaline phosphatase, plasma level of, QTL 2 1p36 "alkaline phosphatase, plasma level of, qtl 2"
ALRH Allergic rhinitis asthma,  rhinitis allergic rhinitis
ALS2 amyotrophic lateral sclerosis 2 (juvenile) 2q33.1 amyotrophic lateral sclerosis,  lateral sclerosis,  juvenile primary lateral sclerosis,  "amyotrophic lateral sclerosis 2, juvenile",  infantile-onset ascending hereditary spastic paralysis als2-related disorders Show all 6
ALS2CL ALS2 C-terminal like 3p21.31 blepharitis
ALS2CR11 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 2q33.1 amyotrophic lateral sclerosis
ALS2CR12 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 2q33.1 amyotrophic lateral sclerosis
ALS3 amyotrophic lateral sclerosis 3 (autosomal dominant) 18q21 amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 3
ALS5 amyotrophic lateral sclerosis 5 15q15.1-q21.1 amyotrophic lateral sclerosis "amyotrophic lateral sclerosis 5, juvenile recessive"
ALS7 amyotrophic lateral sclerosis 7 20p13 amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 7
ALX1 ALX homeobox 1 12q21.31 neural tube defects,  cartilage-hair hypoplasia,  frontonasal dysplasia frontonasal dysplasia 3
ALX3 ALX homeobox 3 1p13.3 neuroblastoma,  frontonasal dysplasia,  basal encephalocele,  encephalocele,  encephaloceles frontonasal dysplasia 1 Show all 6
ALX4 ALX homeobox 4 11p11.2 "craniosynostosis, type 1",  craniosynostosis,  alopecia,  autosomal dominant disease,  wagr syndrome,  potocki-shaffer syndrome,  hypogonadism,  parietal foramina 2 ,  frontonasal dysplasia 2 ,  frontonasal dysplasia,  craniosynostosis 5,  parietal foramina 1,  enlarged parietal foramina,  basal encephalocele,  encephalocele encephaloceles Show all 16
AMACR alpha-methylacyl-CoA racemase 5p13.2 prostate cancer,  adrenomyeloneuropathy,  lung cancer,  ovarian mucinous adenocarcinoma,  bile duct adenoma,  mucinous tubular and spindle cell carcinoma,  metanephric adenoma,  tubulocystic carcinoma,  papillary renal cell carcinoma,  clear cell papillary renal cell carcinoma,  papillary adenoma,  nephrogenic adenoma,  pigmentary retinopathy,  thiolase deficiency,  congenital bile acid synthesis defect,  alpha-methylacyl-coa racemase deficiency "bile acid synthesis defect, congenital, 4" Show all 17
AMBN ameloblastin (enamel matrix protein) 4q13.3 dentin dysplasia calcifying epithelial odontogenic tumor
AMBP alpha-1-microglobulin/bikunin precursor 9q32 malaria,  ovarian cancer,  type 1 diabetes mellitus,  hepatitis e,  acute kidney failure hypertensive nephropathy Show all 6
AMCN arthrogryposis multiplex congenita, neurogenic 5q35 arthrogryposis multiplex congenita neurogenic type
AMD1 adenosylmethionine decarboxylase 1 6q21 chagas disease,  malaria sleeping sickness
AMELX amelogenin, X-linked Xp22.2 "amelogenesis imperfecta, type ia5",  amelogenesis imperfecta,  dental caries,  root resorption,  dental pulp necrosis,  nance-horan syndrome,  dental fluorosis "amelogenesis imperfecta, type 1e" Show all 8
AMELY amelogenin, Y-linked Yp11.2 dental pulp necrosis,  dental fluorosis turner syndrome
AMER1 APC membrane recruitment protein 1 Xq11.2 wilms tumor osteopathia striata cranial sclerosis
AMER2 APC membrane recruitment protein 2 13q12.13 breast and colorectal cancer
AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase 16q12.2 colorectal cancer
AMH anti-Mullerian hormone 19p13.3 hermaphroditism,  cryptorchidism,  mixed gonadal dysgenesis,  varicocele,  intermediate coronary syndrome,  polycystic ovary syndrome,  "persistent mullerian duct syndrome, type i",  persistent mullerian duct syndrome "persistent mullerian duct syndrome, type ii" Show all 9
AMHR2 anti-Mullerian hormone receptor, type II 12q13.13 mixed gonadal dysgenesis,  ovarian cancer,  "persistent mullerian duct syndrome, type i",  persistent mullerian duct syndrome "persistent mullerian duct syndrome, type ii"
AMIGO2 adhesion molecule with Ig-like domain 2 12q13.11 adenocarcinoma,  spondylolisthesis,  legg-calve-perthes disease gastric adenocarcinoma
AMIGO3 adhesion molecule with Ig-like domain 3 3p21.31 ulcerative colitis
AMLCR2 acute myeloid leukemia chromosome region 2 16q22 acute myeloid leukemia
AMMEC Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Xq22.3 "alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis"
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 Xq23 mental retardation,  "alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis" alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
AMN amnion associated transmembrane protein 14q32.32 multiple carboxylase deficiency,  megaloblastic anemia,  methylmalonic aciduria and homocystinuria type cble,  methylmalonic aciduria and homocystinuria type cblg,  methylmalonic aciduria and homocystinuria type cblc,  methylmalonic aciduria and homocystinuria type cbld,  methylmalonic aciduria and homocystinuria type cblf,  intrinsic factor deficiency,  cblg,  cble,  cbld,  cblf,  adrenoleukodystrophy,  "megaloblastic anemia-1, finnish type",  imerslund-grasbeck syndrome,  "megaloblastic anemia-1, norwegian type" "adrenomyeloneuropathy, adult" Show all 17
AMPD1 adenosine monophosphate deaminase 1 1p13.2 coronary artery disease,  myopathy,  congestive heart failure,  barth syndrome,  myopathy due to myoadenylate deaminase deficiency adenosine monophosphate deaminase 1 deficiency Show all 6
AMPD2 adenosine monophosphate deaminase 2 1p13.3 "pontocerebellar hypoplasia, type 9" spastic paraplegia 63
AMPD3 adenosine monophosphate deaminase 3 11p15.4 penile neoplasm,  adenosine monophosphate deaminase deficiency,  erythrocyte amp deaminase deficiency myopathy due to myoadenylate deaminase deficiency
AMPH amphiphysin 7p14.1 breast cancer,  transverse myelitis,  myelitis,  cystoid macular dystrophy,  limbic encephalitis,  stiff-person syndrome retinitis pigmentosa 9 Show all 7
AMT aminomethyltransferase 3p21.31 glycine encephalopathy,  neonatal glycine encephalopathy,  infantile glycine encephalopathy,  atypical glycine encephalopathy amt-related glycine encephalopathy
AMTN amelotin 4q13.3 exotropia dental fluorosis
AMY2A amylase, alpha 2A (pancreatic) 1p21.1 exstrophy of the bladder
AN blood group Ahonen aniridia
ANAPC11 anaphase promoting complex subunit 11 17q25.3 hepatocellular carcinoma
ANBC Aneurysmal bone cysts 16q22 aneurysmal bone cysts
ANC Anal canal carcinoma 11q22-qter anal canal carcinoma
ANCR Angelman syndrome chromosome region 15q11-q12 angelman syndrome prader-willi syndrome
ANG angiogenin, ribonuclease, RNase A family, 5 14q11.2 bladder carcinoma,  amyotrophic lateral sclerosis,  endometrial carcinoma,  pancreatic cancer,  gestational trophoblastic tumor,  myelodysplastic syndromes,  cutaneous t cell lymphoma,  uterine carcinosarcoma,  lipodermatosclerosis,  ang-related amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 9 Show all 11
ANGPT1 angiopoietin 1 8q23.1 polycystic liver disease,  malaria,  malignant peritoneal mesothelioma,  twin-to-twin transfusion syndrome,  funisitis,  chorioangioma lipodermatosclerosis Show all 7
ANGPT2 angiopoietin 2 8p23.1 hepatocellular carcinoma,  diabetic retinopathy,  breast disease,  septic shock,  glioblastoma multiforme,  polycystic liver disease,  malaria,  adult respiratory distress syndrome,  critical limb ischemia,  limb ischemia,  papillary carcinoma,  placenta accreta,  proliferative diabetic retinopathy,  cerebral malaria,  angiosarcoma,  proteinuria,  twin-to-twin transfusion syndrome,  retinopathy of prematurity,  hereditary hemorrhagic telangiectasia,  uterine carcinosarcoma,  chorioangioma,  mucoepidermoid carcinoma,  lipodermatosclerosis,  pyogenic granuloma,  macular holes placental insufficiency Show all 26
ANGPTL2 angiopoietin-like 2 9q33.3 abdominal aortic aneurysm
ANGPTL3 angiopoietin-like 3 1p31.3 "hypobetalipoproteinemia, familial, 2" hypobetalipoproteinemia
ANGPTL4 angiopoietin-like 4 19p13.2 tongue squamous cell carcinoma "plasma triglyceride level qtl, low"
ANGPTL6 angiopoietin-like 6 19p13.2 enterobiasis gnathomiasis
ANIB1 aneurysm, intracranial berry 1 7q11.2 aneurysm "aneurysm, intracranial berry, 1"
ANIB10 Aneurysm, intracranial berry, 10 8q12.1 aneurysm "aneurysm, intracranial berry, 10"
ANIB11 Aneurysm, intracranial berry, 11 8p22 aneurysm "aneurysm, intracranial berry, 11"
ANIB2 aneurysm, intracranial berry 2 19q13 aneurysm "aneurysm, intracranial berry, 2"
ANIB3 aneurysm, intracranial berry 3 1p36.13-p34.3 aneurysm "aneurysm, intracranial berry, 3"
ANIB4 aneurysm, intracranial berry 4 5p15.2-p14.3 aneurysm "aneurysm, intracranial berry, 4"
ANIB5 Aneurysm, intracranial berry, 5 2p15-q14 aneurysm "aneurysm, intracranial berry, 5"
ANIB6 Aneurysm, intracranial berry, 6 9p21 aneurysm "aneurysm, intracranial berry, 6"
ANIB7 Aneurysm, intracranial berry, 7 11q24-q25 aneurysm "aneurysm, intracranial berry, 7"
ANIB8 Aneurysm, intracranial berry, 8 14q23 aneurysm "aneurysm, intracranial berry, 8"
ANIB9 Aneurysm, intracranial berry, 9 2q33.1 aneurysm "aneurysm, intracranial berry, 9"
ANIC Anosmia, isolated congenital 18p11.23-q12.2 congenital anosmia
ANK1 ankyrin 1, erythrocytic 8p11.21 bardet-biedl syndrome 5,  hereditary elliptocytosis,  "spherocytosis, hereditary, type 5",  hereditary spherocytosis,  8p11.2 deletion syndrome ank1-related spherocytosis Show all 6
ANK2 ankyrin 2, neuronal 4q25 catecholaminergic polymorphic ventricular tachycardia,  long qt syndrome 1,  long qt syndrome,  long qt syndrome 4 "cardiac arrhythmia, ankyrin-b-related"
ANK3 ankyrin 3, node of Ranvier (ankyrin G) 10q21.2 plexiform neurofibroma "mental retardation, autosomal recessive, 37"
ANKEF1 ankyrin repeat and EF-hand domain containing 1 20p12.2 breast and colorectal cancer
ANKFN1 ankyrin-repeat and fibronectin type III domain containing 1 17q22 cannabis dependence
ANKH ANKH inorganic pyrophosphate transport regulator 5p15.2 ankylosis,  pseudogout,  craniometaphyseal dysplasia,  chondrocalcinosis 2 "craniometaphyseal dysplasia, autosomal dominant"
ANKHD1 ankyrin repeat and KH domain containing 1 5q31.3 hiv-1
ANKK1 ankyrin repeat and kinase domain containing 1 11q23.2 alcohol dependence,  neuroleptic malignant syndrome,  traumatic brain injury,  bipolar i disorder,  nicotine dependence,  antisocial personality disorder,  alexithymia,  heroin dependence,  tardive dyskinesia "dopamine receptor d2, reduced brain density of" Show all 10
ANKLE2 ankyrin repeat and LEM domain containing 2 12q24.33 pigmented villonodular synovitis,  villonodular synovitis scurvy
ANKRD1 ankyrin repeat domain 1 (cardiac muscle) 10q23.31 diastolic heart failure,  scimitar syndrome,  congenital total pulmonary venous return anomaly ankrd1-related dilated cardiomyopathy
ANKRD11 ankyrin repeat domain 11 16q24.3 intellectual disability,  short stature,  16q24.3 microdeletion syndrome,  kbg syndrome nasal cavity lymphoma
ANKRD17 ankyrin repeat domain 17 4q13.3 breast cancer "hand, foot and mouth disease"
ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle) 10q24.2 dubin-johnson syndrome
ANKRD26 ankyrin repeat domain 26 10p12.1 thrombocytopenia,  thrombocytopenia 2 ankrd26-related thrombocytopenia 2
ANKRD30A ankyrin repeat domain 30A 10p11.21 breast cancer
ANKRD30B ankyrin repeat domain 30B 18p11.21 breast cancer
ANKRD36B ankyrin repeat domain 36B 2q11.2 melanoma acral lentiginous melanoma
ANKRD55 ankyrin repeat domain 55 5q11.2 oligoarticular juvenile arthritis polyarticular onset juvenile idiopathic arthritis
ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A 6p21.31 adjustment disorder
ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 12q23.1 acute lymphocytic leukemia
ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B 16p12.2 usher syndrome type i
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 9q22.33 juvenile autosomal recessive medullary cystic kidney disease,  infantile autosomal recessive medullary cystic kidney disease nephronophthisis 16
ANMA Anisomastia 16q13-q21 anisomastia
ANO1 anoctamin 1, calcium activated chloride channel 11q13.3 oral cancer small intestinal sarcoma
ANO10 anoctamin 10 3p21.33 "spinocerebellar ataxia, autosomal recessive, 10"
ANO3 anoctamin 3 11p14.2 dystonia 24
ANO5 anoctamin 5 11p14.3 gnathodiaphyseal dysplasia,  distal muscular dystrophy,  miyoshi muscular dystrophy 1 ,  muscular dystrophy,  limb-girdle muscular dystrophy type 2l,  ano5-related muscle diseases miyoshi muscular dystrophy 3 Show all 7
ANO6 anoctamin 6 12q12 scott syndrome
ANO7 anoctamin 7 2q37.3 prostate cancer
ANON1 Anorexia nervosa, susceptibility to, 1 1p anorexia nervosa anorexia nervosa 1
ANOP1 anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) Xq27-q28 microphthalmia syndromic 4
ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 15q23 spinocerebellar degeneration
ANPEP alanyl (membrane) aminopeptidase 15q26.1 familial chronic lymphocytic leukemia gastroenteritis
ANTXR1 anthrax toxin receptor 1 2p13.3 colorectal cancer,  ataxia telangiectasia,  gapo syndrome ,  "hemangioma, capillary infantile" inhalation anthrax
ANTXR2 anthrax toxin receptor 2 4q21.21 fibromatosis,  inhalation anthrax,  juvenile hyaline fibromatosis "hyalinosis, inherited systemic"
ANXA2R annexin A2 receptor 5p12 multiple myeloma
ANXA4 annexin A4 2p13.3 gonorrhea,  legionnaires disease papillary serous adenocarcinoma
ANXA5 annexin A5 4q27 pancreatic cancer,  pregnancy loss,  multiple endocrine neoplasia type 2a,  amelanotic melanoma,  antiphospholipid syndrome,  barth syndrome,  transposition of the great arteries "pregnancy loss, recurrent 3" Show all 8
ANXA6 annexin A6 5q33.1 amyotrophic lateral sclerosis,  neonatal lupus erythematosus,  kwashiorkor marasmus
ANXA8 annexin A8 10q11.22 acute promyelocytic leukemia
ANXA8L2 annexin A8-like 2 10q11.22 acute promyelocytic leukemia
AOC1 amine oxidase, copper containing 1 7q36.1 radiation proctitis,  cystic fibrosis,  diabetic autonomic neuropathy intestinal disease
AOC2 amine oxidase, copper containing 2 (retina-specific) 17q21.31 dissecting aortic aneurysm
AOC3 amine oxidase, copper containing 3 17q21.31 diabetes mellitus coronary artery vasospasm
AOCH Acromegaloid features, overgrowth, cleft palate, and hernia "acromegaloid features, overgrowth, cleft palate and hernia"
AOMS1 Abdominal obesity-metabolic syndrome QTL1 3q27 obesity metabolic syndrome x
AOMS2 abdominal obesity-metabolic syndrome QTL2 17p12 obesity metabolic syndrome x
AOS Adams-Oliver syndrome oliver syndrome
AOX1 aldehyde oxidase 1 2q33.1 amyotrophic lateral sclerosis,  lateral sclerosis,  end stage renal failure,  molybdenum cofactor deficiency xanthinuria type 1
AP1B1 adaptor-related protein complex 1, beta 1 subunit 22q12.2 meningioma
AP1G1 adaptor-related protein complex 1, gamma 1 subunit 16q22.2 hypoactive sexual desire disorder
AP1S1 adaptor-related protein complex 1, sigma 1 subunit 7q22.1 erythrokeratodermia variabilis mednik syndrome
AP1S2 adaptor-related protein complex 1, sigma 2 subunit Xp22.2 "mental retardation, x-linked",  basal ganglia disease dandy-walker malformation with mental retardation basal ganglia disease and seizures
AP1S3 adaptor-related protein complex 1, sigma 3 subunit 2q36.1 hiv-1,  pustulosis palmaris et plantaris,  generalized pustular psoriasis acrodermatitis continua suppurativa of hallopeau
AP2A2 adaptor-related protein complex 2, alpha 2 subunit 11p15.5 wolff-parkinson-white syndrome
AP2S1 adaptor-related protein complex 2, sigma 1 subunit 19q13.32 hypercalcemia,  familial hypocalciuric hypercalcemia type 3 familial hypocalciuric hypercalcemia
AP3B1 adaptor-related protein complex 3, beta 1 subunit 5q14.1 platelet storage pool deficiency,  hermansky-pudlak syndrome,  hermansky-pudlak syndrome 1 hermansky pudlak syndrome 2
AP3B2 adaptor-related protein complex 3, beta 2 subunit 15q25.2 congenital diaphragmatic hernia
AP4B1 adaptor-related protein complex 4, beta 1 subunit 1p13.2 cerebral palsy,  "spastic paraplegia 50, autosomal recessive" "spastic paraplegia 47, autosomal recessive"
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit 15q21.2 oligospermia,  cerebral palsy,  "spastic paraplegia 50, autosomal recessive" spastic paraplegia 51
AP4M1 adaptor-related protein complex 4, mu 1 subunit 7q22.1 quadriplegia "spastic paraplegia 50, autosomal recessive"
AP4S1 adaptor-related protein complex 4, sigma 1 subunit 14q12 cerebral palsy,  "spastic paraplegia 52, autosomal recessive" "spastic paraplegia 50, autosomal recessive"
AP5M1 adaptor-related protein complex 5, mu 1 subunit 14q22.3 hiv-1
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit 7p22.1 "spastic paraplegia 48, autosomal recessive" spastic paraplegia 48
APAF1 apoptotic peptidase activating factor 1 12q23.1 amyotrophic lateral sclerosis,  male germ cell tumor,  nonseminomatous germ cell tumor,  talipes equinovarus,  dystrophinopathies legionellosis Show all 6
APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 9q21.12 neuronal intranuclear inclusion disease
APBA3 amyloid beta (A4) precursor protein-binding, family A, member 3 19p13.3 melanotic neuroectodermal tumor
APBB1 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 11p15.4 alzheimers disease
APBB2 amyloid beta (A4) precursor protein-binding, family B, member 2 4p13 alzheimers disease alzheimer disease type 2
APC adenomatous polyposis coli 5q22.2 "colorectal cancer, somatic",  colorectal cancer,  fibrous dysplasia,  barretts esophagus,  "gastric cancer, somatic",  colon cancer,  gallbladder cancer,  familial adenomatous polyposis,  "hepatoblastoma, somatic",  medulloblastoma,  hepatoblastoma,  adenoma,  desmoid tumor,  "medulloblastoma, desmoplastic",  cerebellar liponeurocytoma,  pancreatoblastoma,  turcot syndrome,  attenuated familial adenomatous polyposis,  acinar cell carcinoma,  juvenile polyposis syndrome,  pseudomyxoma peritonei,  nonpapillary renal cell carcinoma,  intussusception,  hyperplastic polyposis syndrome,  intestinal neoplasm,  mutyh-associated polyposis,  albrights hereditary osteodystrophy,  acrodysostosis,  joubert syndrome 18 ,  cranial nerve palsy,  apc-associated polyposis conditions,  familial adenomatous polyposis due to 5q22.2 microdeletion,  brain tumor-polyposis syndrome 2 ,  fourth cranial nerve palsy,  gardner syndrome ,  "adenoma, periampullary, somatic" brachydactyly type e Show all 37
APCDD1 adenomatosis polyposis coli down-regulated 1 18p11.22 edwards syndrome,  hypotrichosis,  hypotrichosis simplex,  hypotrichosis 11 hypotrichosis 1
APCS amyloid P component, serum 1q23.2 oral candidiasis,  "amyloidosis, secondary",  candida glabrata burns
APEH acylaminoacyl-peptide hydrolase 3p21.31 renal cell carcinoma,  placenta praevia,  high pressure neurological syndrome barbiturate dependence
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 14q11.2 amyotrophic lateral sclerosis,  breast cancer,  cystic fibrosis,  lung cancer,  respiratory failure attenuated familial adenomatous polyposis Show all 6
APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 Xp11.21 mitochondrial disorders
APITD1 apoptosis-inducing, TAF9-like domain 1 1p36.22 neuroblastoma,  fanconis anemia gastric antral vascular ectasia
APLF aprataxin and PNKP like factor 2p13.3 degenerative disc disease junctional epidermolysis bullosa
APLN apelin Xq26.1 coronary artery disease,  type 2 diabetes mellitus,  morbid obesity,  obesity,  type 1 diabetes mellitus syndrome of inappropriate antidiuretic hormone Show all 6
APLNR apelin receptor 11q12.1 hiv-1 aortic valve stenosis
APLP1 amyloid beta (A4) precursor-like protein 1 19q13.12 alzheimers disease
APMR1 Alopecia-mental retardation syndrome 3q26.3-q27.3 alopecia mental retardation syndrome 1
APMR2 Alopecia with mental retardation syndrome 2 3q26.2-q26.31 alopecia mental retardation syndrome 2
APMR3 Alopecia-mental retardation syndrome 3 18q11.2-q12.2 alopecia-mental retardation syndrome 3
APOA1 apolipoprotein A-I 11q23.3 peripheral vascular disease,  "amyloidosis, hereditary renal",  "amyloidosis, 3 or more types",  "amyloidosis, renal",  hereditary amyloidosis,  amyloidosis,  myocardial infarction,  coronary artery disease,  type 2 diabetes mellitus,  noma,  familial hypercholesterolemia,  insulin resistance,  multiple myeloma,  "amyloidosis, secondary",  hypoalphalipoproteinemia,  familial hypertriglyceridemia,  hypertriglyceridemia,  artery disease,  atherosclerosis,  reflex sympathetic dystrophy,  trypanosomiasis,  tangier disease,  eye disease,  gallbladder disease,  alagille syndrome,  cerebrotendinous xanthomatosis,  hyperlipoproteinemia type iii,  hypercholesterolemia,  familial hyperlipidemia,  arteriosclerosis,  hyperalphalipoproteinemia,  avascular necrosis of the femoral head,  fish-eye disease,  norum disease,  familial hdl deficiency,  cerebral atherosclerosis,  chylomicron retention disease,  familial combined hyperlipidemia,  familial combined hyperlipoproteinemia,  hepatic lipase deficiency,  "corneal clouding, autosomal recessive",  familial renal amyloidosis due to apolipoprotein ai variant,  apo a-i deficiency,  apoa1-related familial visceral amyloidosis,  apoa1-associated familial high density lipoprotein deficiency "apoa-i and apoc-iii deficiency, combined" Show all 46
APOA2 apolipoprotein A-II 1q23.3 peripheral vascular disease,  vascular disease,  hereditary amyloidosis,  amyloidosis,  coronary artery disease,  hyperthyroidism,  insulin resistance,  hypoalphalipoproteinemia,  familial hypertriglyceridemia,  hypertriglyceridemia,  artery disease,  tangier disease,  eye disease,  hypercholesterolemia,  familial hyperlipidemia,  hyperalphalipoproteinemia,  fish-eye disease,  norum disease,  "hypercholesterolemia, familial, modifier of",  familial combined hyperlipidemia,  carotid artery disease,  apolipoprotein a-ii deficiency familial renal amyloidosis due to apolipoprotein aii variant Show all 23
APOA4 apolipoprotein A-IV 11q23.3 coronary artery disease,  schizophrenia,  familial hypercholesterolemia,  obesity,  patent ductus arteriosus,  proteinuria,  demyelinating polyneuropathy,  chronic inflammatory demyelinating polyneuropathy familial combined hyperlipidemia Show all 9
APOA5 apolipoprotein A-V 11q23.3 coronary artery disease,  hypertriglyceridemia,  artery disease,  hyperlipoproteinemia type iii,  familial hyperlipidemia hyperlipoproteinemia type v Show all 6
APOB apolipoprotein B 2p24.1 myocardial infarction,  coronary artery disease,  type 2 diabetes mellitus,  noma,  familial hypercholesterolemia,  insulin resistance,  obesity,  riboflavin deficiency ,  hypoalphalipoproteinemia,  familial hypertriglyceridemia,  hypertriglyceridemia,  artery disease,  atherosclerosis,  hyperapobetalipoproteinemia,  gallbladder disease,  sitosterolemia,  defective apolipoprotein b-100,  cerebrotendinous xanthomatosis,  hyperlipoproteinemia type iii,  hypercholesterolemia,  familial hyperlipidemia,  arteriosclerosis,  hyperalphalipoproteinemia,  lipoprotein glomerulopathy,  avascular necrosis of the femoral head,  "hypobetalipoproteinemia, familial, 2",  hypobetalipoproteinemia,  exencephaly,  lipid metabolism disorder,  abetalipoproteinemia,  chylomicron retention disease,  familial combined hyperlipidemia,  familial combined hyperlipoproteinemia,  myocardial infarction susceptibility,  "apob-related familial hypercholesterolemia, autosomal dominant" "hypercholesterolemia, due to ligand-defective apo b" Show all 36
APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 12p13.31 neurofibromatosis
APOBEC3A apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A 22q13.1 colorectal adenocarcinoma,  hepatitis b virus infection human t-cell leukemia virus type 1
APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 22q13.1 hepatitis b virus infection human t-cell leukemia virus type 1
APOBEC3F apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 22q13.1 hiv-1
APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G 22q13.1 hiv-1 human immunodeficiency virus infectious disease
APOC1 apolipoprotein C-I 19q13.32 coronary artery disease,  stomach cancer,  alzheimers disease,  memory impairment,  primary progressive aphasia aphasia Show all 6
APOC1P1 apolipoprotein C-I pseudogene 1 19q13.32 intrahepatic cholangiocarcinoma
APOC2 apolipoprotein C-II 19q13.32 steatorrhea,  hypertriglyceridemia,  pancreatitis,  atherosclerosis,  familial hyperlipidemia,  hyperlipoproteinemia type v,  familial combined hyperlipidemia,  chronic kidney failure,  nontoxic goiter,  "hyperlipoproteinemia, type ib" apolipoprotein c-ii deficiency Show all 11
APOC3 apolipoprotein C-III 11q23.3 carotid intimal medial thickness,  coronary artery disease,  type 2 diabetes mellitus,  obesity,  hypoalphalipoproteinemia,  familial hypertriglyceridemia,  hypertriglyceridemia,  familial hyperlipidemia,  uremia,  hyperalphalipoproteinemia,  familial combined hyperlipidemia,  chronic kidney failure,  combined oxidative phosphorylation deficiency 3 hyperalphalipoproteinemia 2 Show all 14
APOC4 apolipoprotein C-IV 19q13.32 coronary artery disease,  breast and colorectal cancer artery disease
APOD apolipoprotein D 3q29 pilocytic astrocytoma,  anaplastic astrocytoma,  schizophrenia,  male breast cancer,  breast cyst,  astrocytoma,  picks disease,  neurofibroma,  ganglioglioma gynecomastia Show all 10
APOE apolipoprotein E 19q13.32 myocardial infarction,  coronary artery disease,  amyotrophic lateral sclerosis,  parkinsons disease,  age related macular degeneration,  familial hypercholesterolemia,  semantic dementia,  alzheimers disease,  herpes simplex encephalitis,  dementia,  inclusion body myositis,  diabetic angiopathy,  traumatic brain injury,  brain injury,  familial partial lipodystrophy,  familial hypertriglyceridemia,  hypertriglyceridemia,  artery disease,  memory impairment,  cervical dystonia,  normal pressure hydrocephalus,  variant creutzfeldt-jakob disease,  atherosclerosis,  primary angle-closure glaucoma,  wernicke-korsakoff syndrome,  hyperapobetalipoproteinemia,  persistent vegetative state,  genital herpes,  gallbladder disease,  alzheimer disease type 2,  cerebrovascular disease,  vascular dementia,  argyrophilic grain disease,  primary progressive aphasia,  temporal lobe epilepsy,  defective apolipoprotein b-100,  hyperlipoproteinemia type iii,  hypercholesterolemia,  familial hyperlipidemia,  head injury,  creutzfeldt-jakob disease,  kuru,  proximal spinal muscular atrophy,  schizophreniform disorder,  finnish type amyloidosis,  exfoliation syndrome,  hyperlipoproteinemia type v,  cerebral atrophy,  dense deposit disease,  lipoprotein glomerulopathy,  lung sarcoma,  cerebral amyloid angiopathy,  posterior cortical atrophy,  binswangers disease,  aortic disease,  moderate and severe traumatic brain injury,  cerebral atherosclerosis,  mesial temporal lobe epilepsy with hippocampal sclerosis,  hepatic lipase deficiency,  familial creutzfeldt-jakob disease,  genetic prion diseases,  myocardial infarction susceptibility,  hereditary cerebral amyloid angiopathy,  sea-blue histiocyte syndrome,  hyperlipidemia type 3,  alzheimer disease risk factor recurrent acute pancreatitis Show all 67
APOF apolipoprotein F 12q13.3 dacryoadenitis
APOH apolipoprotein H (beta-2-glycoprotein I) 17q24.2 pre-eclampsia,  polyarteritis nodosa,  antithrombin iii deficiency,  patent foramen ovale,  sneddon syndrome,  retinal vasculitis,  papilledema,  pregnancy loss,  malignant hypertension,  systemic lupus erythematosus,  nephritis,  subacute cutaneous lupus erythematosus,  pediatric systemic lupus erythematosus,  behcets disease,  protein s deficiency,  vasculitis,  collagenous colitis,  fibromuscular dysplasia,  anterior ischemic optic neuropathy,  retinal artery occlusion,  hellp syndrome,  compartment syndrome,  systemic scleroderma,  connective tissue disease,  transient global amnesia,  lupus nephritis,  chronic graft versus host disease,  cryoglobulinemia,  syphilis,  transverse myelitis,  myelitis,  antiphospholipid syndrome,  catastrophic antiphospholipid syndrome,  purpura,  relapsing polychondritis,  chickenpox,  cardiogenic shock,  acute myocarditis,  discoid lupus erythematosus,  middle cerebral artery infarction,  endocarditis,  nodular regenerative hyperplasia,  osteonecrosis of the jaw,  thromboangiitis obliterans,  cerebrovascular disease,  eclampsia,  osteonecrosis,  mononeuropathy,  peripheral vertigo,  degos disease,  arteriovenous fistula,  temporal arteritis,  factor xii deficiency,  retinal vein occlusion,  retinal vascular occlusion,  central retinal vein occlusion,  cerebral sinovenous thrombosis,  thrombophlebitis,  bone marrow necrosis,  purpura fulminans,  thromboembolism,  venous thrombosis,  spinal cord infarction,  amaurosis fugax,  breast reconstruction,  splenic infarction,  actinomycosis,  carotid artery occlusion,  severe pre-eclampsia,  mixed connective tissue disease,  alcoholic cardiomyopathy,  heart valve disease subacute delirium Show all 73
APOL1 apolipoprotein L, 1 22q12.3 schizophrenia,  glomerulosclerosis,  focal segmental glomerulosclerosis,  sleeping sickness,  trypanosomiasis,  sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,  phencyclidine abuse,  "glomerulosclerosis, focal segmental, 4" "end-stage renal disease, nondiabetic, susceptibility to" Show all 9
APOL2 apolipoprotein L, 2 22q12.3 schizophrenia
APOL4 apolipoprotein L, 4 22q12.3 schizophrenia
APOLD1 apolipoprotein L domain containing 1 12p13.1 diverticulitis,  intestinal obstruction,  anus cancer,  anus disease,  rectal prolapse rectal neoplasm Show all 6
APOM apolipoprotein M 6p21.33 critical limb ischemia limb ischemia
APP amyloid beta (A4) precursor protein 21q21.3 amyloidosis,  amyotrophic lateral sclerosis,  alzheimers disease,  dementia,  inclusion body myositis,  hereditary cerebral hemorrhage with amyloidosis,  brain injury,  peroxisomal disease,  familial idiopathic basal ganglia calcification,  lewy body dementia,  normal pressure hydrocephalus,  shaken baby syndrome,  cd40 deficiency,  alzheimer disease type 2,  cerebral hypoxia,  argyrophilic grain disease,  primary progressive aphasia,  neuroaxonal dystrophy,  monosomy 21,  myositis,  kuru,  leukomalacia,  meningoencephalitis,  oculopharyngeal muscular dystrophy,  cerebral amyloid angiopathy,  hereditary diffuse leukoencephalopathy with spheroids,  binswangers disease,  "neuroaxonal dystrophy, infantile",  alzheimer disease 8,  alzheimer disease type 5,  "alzheimer disease 9, late onset",  alzheimer disease 6 ,  alzheimer disease-10,  "alzheimer disease, pathogenesis, association with",  "cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants",  hereditary cerebral amyloid angiopathy,  central nervous system vasculitis "alzheimer disease 1, familial" Show all 38
APPBP2 amyloid beta precursor protein (cytoplasmic tail) binding protein 2 17q23.2 breast cancer
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 3p14.3 exophthalmos
APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 12q23.3 phelan-mcdermid syndrome
APRT adenine phosphoribosyltransferase 16q24.3 lesch-nyhan syndrome,  nephrolithiasis,  gout,  ureterolithiasis,  fibrosarcoma,  adenine phosphoribosyltransferase deficiency,  purine nucleoside phosphorylase deficiency dihydroxyadeninuria Show all 8
APTX aprataxin 9p21.1 ataxia,  friedreich ataxia,  cysticercosis,  apraxia,  generalized dystonia,  ataxia with oculomotor apraxia type 1,  spinocerebellar degeneration,  doid:4019,  aptx-related coenzyme q10 deficiency early-onset ataxia with oculomotor apraxia and hypoalbuminemia Show all 10
AQP1 aquaporin 1 (Colton blood group) 7p14.3 polyhydramnios,  oligohydramnios,  dysferlinopathy,  priapism,  dystrophinopathies,  diabetes insipidus,  menieres disease,  hepatorenal syndrome,  skeletal muscle regeneration motion sickness Show all 10
AQP12B aquaporin 12B 2q37.3 posterior polar cataract
AQP2 aquaporin 2 (collecting duct) 12q13.12 hydronephrosis,  metabolic acidosis,  urinary tract obstruction,  hypokalemia,  diabetes insipidus,  ureteral disease,  diabetic ketoacidosis,  menieres disease,  renal clear cell carcinoma,  endolymphatic hydrops,  hepatorenal syndrome,  inappropriate adh syndrome,  neurohypophyseal diabetes insipidus,  congenital hydronephrosis,  acute pyelonephritis,  nephrogenic diabetes insipidus "nephrogenic diabetes insipidus, autosomal" Show all 17
AQP3 aquaporin 3 (Gill blood group) 9p13.3 polyhydramnios,  oligohydramnios,  cystic fibrosis,  urinary tract obstruction,  ureteral disease,  constipation collecting duct carcinoma Show all 7
AQP4 aquaporin 4 18q11.2 syringomyelia,  megalencephalic leukoencephalopathy with subcortical cysts,  acute liver failure,  optic neuritis,  neuritis,  brain edema,  dysferlinopathy,  dystrophinopathies,  neonatal stroke,  menieres disease,  transverse myelitis,  myelitis,  intracranial hypertension,  acute disseminated encephalomyelitis,  relapsing-remitting multiple sclerosis,  hepatic encephalopathy,  neuroma,  acoustic neuroma,  bacterial meningitis,  sarcoglycanopathies,  neuromyelitis optica,  cerebral artery occlusion,  internuclear ophthalmoplegia,  neuromyelitis optica spectrum disorder,  idiopathic acute transverse myelitis,  acute transverse myelitis devic disease Show all 27
AQP5 aquaporin 5 12q13.12 alzheimers disease,  dry eye syndrome,  wrinkles,  menieres disease,  idiopathic pulmonary fibrosis,  pterygium,  nonepidermolytic palmoplantar keratoderma,  adenoid cystic carcinoma,  congenital diaphragmatic hernia,  "diffuse palmoplantar keratoderma, bothnian type" "palmoplantar keratoderma, bothnia type" Show all 11
AQP6 aquaporin 6, kidney specific 12q13.12 menieres disease
AQP7 aquaporin 7 9p13.3 morbid obesity,  obesity,  menieres disease,  endolymphatic hydrops constipation
AQP8 aquaporin 8 16p12.1 polyhydramnios oligohydramnios
AQP9 aquaporin 9 15q21.3 polyhydramnios hydrarthrosis
AQPEP laeverin 5q23.1 laryngitis
AR androgen receptor Xq12 prostate cancer,  hypospadias,  breast cancer,  androgen insensitivity syndrome,  complete androgen insensitivity syndrome,  kennedys disease,  x-linked spinal-bulbar muscle atrophy,  spinal-bulbar muscular atrophy,  spermatogenesis arrest,  isolated micropenis,  "hypospadias 1, x-linked",  partial androgen insensitivity syndrome,  gastric neuroendocrine neoplasm,  muscular atrophy,  "hypospadias 2, x-linked",  gender identity disorder,  germ cell cancer,  vaginitis,  transsexualism,  mammary pagets disease,  withdrawal disorder,  hermaphroditism,  cryptorchidism,  adenosarcoma,  oligospermia,  hemangioma male breast cancer Show all 27
ARAF v-raf murine sarcoma 3611 viral oncogene homolog Xp11.23 mycobacterium marinum
ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 4p14 loiasis urinary schistosomiasis
ARC activity-regulated cytoskeleton-associated protein 8q24.3 "myoclonus, familial cortical" idiopathic generalized epilepsy
ARCI7 Ichthyosis, congenital, autosomal recessive 7 12p11.2-q13.1 "ichthyosis, congenital, autosomal recessive 7"
ARCI9 Ichthyosis, congenital, autosomal recessive 9 "ichthyosis, congenital, autosomal recessive 9"
AREG amphiregulin 4q13.3 prostate cancer,  pancreatic cancer,  anemia of prematurity,  ovarian cystadenoma,  psoriasis,  colon adenocarcinoma colon cancer Show all 7
AREGB amphiregulin B 4q13.3 prostate cancer breast adenocarcinoma
ARF1 ADP-ribosylation factor 1 1q42.13 cholera rheumatic myocarditis
ARF1P1 ADP-ribosylation factor 1 pseudogene 1 7q21.3 hiv-1
ARF3 ADP-ribosylation factor 3 12q13.12 cholera,  "distal hereditary motor neuropathy, type ii" platelet storage pool deficiency
ARF4 ADP-ribosylation factor 4 3p14.3 cholera
ARF5 ADP-ribosylation factor 5 7q32.1 cholera
ARF6 ADP-ribosylation factor 6 14q21.3 cholera familial infantile myoclonic epilepsy
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 20q13.13 exophthalmos,  periventricular heterotopia with microcephaly ,  "periventricular heterotopia, autosomal recessive",  periventricular nodular heterotopia,  periventricular heterotopia pseudobulbar palsy Show all 6
ARFRP1 ADP-ribosylation factor related protein 1 20q13.33 wiskott-aldrich syndrome
ARG1 arginase 1 6q23.2 hepatocellular carcinoma,  recessive dystrophic epidermolysis bullosa,  hyperargininemia,  quadriplegia,  q fever,  spastic quadriplegia autoimmune hepatitis Show all 7
ARG2 arginase 2 14q24.1 hyperargininemia
ARHGAP1 Rho GTPase activating protein 1 11p11.2 noma
ARHGAP17 Rho GTPase activating protein 17 16p12.1 syringomyelia
ARHGAP24 Rho GTPase activating protein 24 4q21.23 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ARHGAP26 Rho GTPase activating protein 26 5q31.3 mucopolysaccharidosis vi,  juvenile myelomonocytic leukemia alpha thalassemia
ARHGAP31 Rho GTPase activating protein 31 3q13.33 adams-oliver syndrome 1 oliver syndrome
ARHGAP32 Rho GTPase activating protein 32 11q24.3 schizotypal personality disorder
ARHGAP33 Rho GTPase activating protein 33 19q13.12 noma
ARHGAP4 Rho GTPase activating protein 4 Xq28 l1 syndrome
ARHGAP6 Rho GTPase activating protein 6 Xp22.2 microphthalmia with linear skin defects syndrome
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha 17q25.3 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis,  "nephrotic syndrome, type 8" nephrotic syndrome
ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1 19q13.2 skin lipoma
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 8p23.3 gastric dilatation "slowed nerve conduction velocity, ad"
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 11q23.3 acute myeloid leukemia,  shwachman-diamond syndrome leukemia
ARHGEF16 Rho guanine nucleotide exchange factor (GEF) 16 1p36.32 neuroblastoma
ARHGEF19 Rho guanine nucleotide exchange factor (GEF) 19 1p36.13 blepharitis
ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28 5q13.2 amyotrophic lateral sclerosis
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 3p14.3 osteoporosis
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 Xq26.3 borjeson-forssman-lehmann syndrome,  "mental retardation, x-linked 17/31, microduplication" mental retardation
ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7 13q34 borjeson-forssman-lehmann syndrome
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 Xq11.2 "epileptic encephalopathy, early infantile, 8",  arhgef9-related hyperekplexia hyperekplexia
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) 1p36.11 coffin-siris syndrome,  "mental retardation, autosomal dominant 14",  arid1a-related coffin-siris syndrome adenofibroma
ARID1B AT rich interactive domain 1B (SWI1-like) 6q25.3 ladd syndrome ,  acrocephalosyndactylia,  radioulnar synostosis,  arid1b-related coffin-siris syndrome,  chromosome 6q25 microdeletion syndrome,  "mental retardation, autosomal dominant 12",  nicolaides baraitser syndrome coffin-siris syndrome Show all 8
ARID3B AT rich interactive domain 3B (BRIGHT-like) 15q24.1 intestinal atresia imperforate anus
ARID4A AT rich interactive domain 4A (RBP1-like) 14q23.1 retinoblastoma
ARID4B AT rich interactive domain 4B (RBP1-like) 1q42.3 breast cancer retinoblastoma
ARID5A AT rich interactive domain 5A (MRF1-like) 2q11.2 alcohol dependence
ARID5B AT rich interactive domain 5B (MRF1-like) 10q21.2 lymphoblastic leukemia
ARL1 ADP-ribosylation factor-like 1 12q23.2 cholera
ARL11 ADP-ribosylation factor-like 11 13q14.2 familial colorectal cancer,  dysplastic nevus syndrome,  familial breast cancer b-cell chronic lymphocytic leukemia
ARL13B ADP-ribosylation factor-like 13B 3q11.1 joubert syndrome 8 ,  arl13b-related joubert syndrome,  joubert syndrome 21,  asphyxiating thoracic dystrophy joubert syndrome and related disorders
ARL14 ADP-ribosylation factor-like 14 3q25.33 primary biliary cirrhosis
ARL2 ADP-ribosylation factor-like 2 11q13.1 retinitis pigmentosa 2
ARL2BP ADP-ribosylation factor-like 2 binding protein 16q13 retinitis pigmentosa with or without situs inversus ,  retinitis pigmentosa 66,  retinitis pigmentosa 2,  situs inversus leber congenital amaurosis
ARL3 ADP-ribosylation factor-like 3 10q24.32 retinitis pigmentosa 2
ARL5A ADP-ribosylation factor-like 5A 2q23.3 prostate carcinoma in situ
ARL6 ADP-ribosylation factor-like 6 3q11.2 leber congenital amaurosis,  "bardet-biedl syndrome 1, modifier of",  arl6-related retinitis pigmentosa,  bardet-biedl syndrome 15,  arl6-related bardet-biedl syndrome,  retinitis pigmentosa 55 ,  bardet-biedl syndrome 3 ,  bardet-biedl syndrome 2,  bardet-biedl syndrome 10,  "bardet-biedl syndrome 14, modifier of",  bardet-biedl syndrome 11,  bardet-biedl syndrome 8,  bardet-biedl syndrome 13,  bardet-biedl syndrome 5,  bardet-biedl syndrome 4,  bardet-biedl syndrome,  bardet-biedl syndrome 17,  bardet-biedl syndrome 9,  "bardet-biedl syndrome, modifier of",  bardet-biedl syndrome 19,  bardet-biedl syndrome 12,  bardet-biedl syndrome 7,  bardet-biedl syndrome 1,  bardet-biedl syndrome 6 bardet-biedl syndrome 14 Show all 25
ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1 16p12.3 "spastic paraplegia 61, autosomal recessive"
ARMC10 armadillo repeat containing 10 7q22.1 hepatocellular carcinoma cloacogenic carcinoma
ARMC4 armadillo repeat containing 4 10p12.1 bent bone dysplasia syndrome ,  "ciliary dyskinesia, primary, 23" "ciliary dyskinesia, primary, 19"
ARMC5 armadillo repeat containing 5 16p11.2 acth-independent macronodular adrenal hyperplasia
ARMC9 armadillo repeat containing 9 2q37.1 mucopolysaccharidosis iii melanoma
ARMS2 age-related maculopathy susceptibility 2 10q26.13 choroiditis,  age-related macular degeneration 8,  multifocal choroiditis,  retinal drusen,  retinal disease age related macular degeneration Show all 6
ARNT aryl hydrocarbon receptor nuclear translocator 1q21.3 hypoxia acute myeloid leukemia
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 15q25.1 hypoxia hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 12p11.23 hypoxia
ARPC5L actin related protein 2/3 complex, subunit 5-like 9q33.3 shigellosis
ARR3 arrestin 3, retinal (X-arrestin) Xq13.1 leber congenital amaurosis,  retinal vasculitis rheumatic disease
ARRB1 arrestin, beta 1 11q13.4 whim syndrome
ARRB2 arrestin, beta 2 17p13.2 whim syndrome
ARSA arylsulfatase A 22q13.33 "metachromatic leukodystrophy, juvenile form",  cerebral lipidosis,  nervous system cancer,  "metachromatic leukodystrophy, late infantile form",  metachromatic leukodystrophy ,  "metachromatic leukodystrophy, adult form",  central nervous system cancer,  gangliosidosis gm1,  sandhoff disease,  fabry disease,  mucosulfatidosis,  sneddon syndrome,  krabbe disease,  tay-sachs disease,  wilson disease,  choroideremia,  leukodystrophy,  breast disease,  pervasive developmental disorder gauchers disease Show all 20
ARSB arylsulfatase B 5q14.1 metachromatic leukodystrophy ,  mucosulfatidosis,  mucopolysaccharidosis vi,  "mucopolysaccharidosis type 6, slowly progressing",  "mucopolysaccharidosis type 6, rapidly progressing",  papilledema mucopolysaccharidosis Show all 7
ARSD arylsulfatase D Xp22.33 metachromatic leukodystrophy ,  mucosulfatidosis,  mucopolysaccharidosis vi gastric dilatation
ARSE arylsulfatase E (chondrodysplasia punctata 1) Xp22.33 antley-bixler syndrome,  metachromatic leukodystrophy ,  mucosulfatidosis,  "chondrodysplasia punctata 1, x-linked",  "chondrodysplasia punctata 1, x-linked recessive",  "chondrodysplasia punctata, x-linked recessive",  chondrodysplasia mucopolysaccharidosis vi Show all 8
ARSH arylsulfatase family, member H Xp22.33 breast fibroadenoma,  breast cancer,  metachromatic leukodystrophy ,  mucosulfatidosis,  gauchers disease,  mucopolysaccharidosis vi,  breast cyst,  ovarian endometriosis,  autonomic dysfunction,  mucolipidosis ii,  mucolipidosis,  beta-ketothiolase deficiency,  endometriosis,  ketothiolase deficiency,  x-linked ichthyosis pancreatic cancer Show all 16
ARSI arylsulfatase family, member I 5q32 autosomal recessive spastic paraplegia type 66,  xerophthalmia relapsing fever
ART1 ADP-ribosyltransferase 1 11p15.4 cholera,  pertussis squamous cell carcinoma of the head and neck
ART4 ADP-ribosyltransferase 4 (Dombrock blood group) 12p12.3 acute chest syndrome
ARTN artemin 1p34.1 pancreatic cancer,  spinal cord injury,  hirschsprungs disease non-small cell lung carcinoma
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome 22q11.21 spinocerebellar ataxia type 10,  digeorge syndrome,  cleft palate,  velocardiofacial syndrome schizophrenia
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
ARVD6 arrhythmogenic right ventricular dysplasia 6 10p14-p12 arrhythmogenic right ventricular dysplasia 6
ARX aristaless related homeobox Xp21.3 non-specific x-linked mental retardation,  "mental retardation, x-linked 17/31, microduplication",  mental retardation,  "mental retardation, x-linked 29",  arx-related disorders,  hydranencephaly with abnormal genitalia ,  "epileptic encephalopathy, early infantile, 1",  x-linked lissencephaly with abnormal genitalia,  x-linked lissencephaly with ambiguous genitalia,  neuronal migration disorders,  partington syndrome ,  proud levine carpenter syndrome,  "mental retardation, x-linked 29 and others",  west syndrome,  "epileptic encephalopathy, early infantile, 5",  "epileptic encephalopathy, early infantile, 17",  lissencephaly with cerebellar hypoplasia,  corpus callosum agenesis,  hydranencephaly,  "mental retardation, x-linked",  infantile epileptic encephalopathy,  cerebellar hypoplasia,  lissencephaly,  autistic disorder,  ohtahara syndrome spasticity Show all 26
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 8p22 lipogranulomatosis,  farber lipogranulomatosis spinal muscular atrophy with progressive myoclonic epilepsy
ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 10q11.23 prostate cancer,  gauchers disease,  obstructive jaundice,  lipogranulomatosis,  farber lipogranulomatosis sphingolipidosis Show all 6
ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 2p25.1 cri-du-chat syndrome
ASB10 ankyrin repeat and SOCS box containing 10 7q36.1 glaucoma,  open-angle glaucoma "glaucoma 1, open angle, f"
ASB14 ankyrin repeat and SOCS box containing 14 3p14.3 junctional epidermolysis bullosa cat-scratch disease
ASB16-AS1 ASB16 antisense RNA 1 17q21.31 intrahepatic cholangiocarcinoma
ASB2 ankyrin repeat and SOCS box containing 2 14q32.12 mucopolysaccharidosis vi myeloid leukemia
ASCC1 activating signal cointegrator 1 complex subunit 1 10q22.1 adenocarcinoma,  lesch-nyhan syndrome,  barretts esophagus barrett esophagus/esophageal adenocarcinoma
ASCL1 achaete-scute family bHLH transcription factor 1 12q23.2 neuroblastoma,  congenital central hypoventilation syndrome,  central hypoventilation syndrome,  lung cancer,  differentiating neuroblastoma,  supratentorial primitive neuroectodermal tumor,  pheochromocytoma,  "central hypoventilation syndrome, congenital, with or without hirschsprung disease",  lymphoblastic lymphoma,  pancreatic endocrine tumors,  neuroendocrine tumor,  pulmonary neuroendocrine tumor,  merkel cell carcinoma idiopathic interstitial pneumonia Show all 14
ASD1 atrial septal defect 1 5p15.31 atrial septal defect 1
ASDP anal sphincter dysplasia anal sphincter dysplasia
ASGR1 asialoglycoprotein receptor 1 17p13.1 hepatitis b hepatitis