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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.

19,231 "disease genes" are currently present in the GeneCards database
This is a partial list of 5,000 genes. The complete list contains 19,231 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 ischemic optic neuropathy neuropathy
A1BG alpha-1-B glycoprotein 19q13.43 otosclerosis,  pancreatic ductal adenocarcinoma,  respiratory failure,  otitis media,  cholesteatoma,  hepatoblastoma,  nephrotic syndrome,  adenocarcinoma pancreatitis Show all 9
A1CF APOBEC1 complementation factor 10q11.23 anisometropia,  hydrocele,  amblyopia,  cholera hepatocellular carcinoma
A2M alpha-2-macroglobulin 12p13.31 senile systemic amyloidosis,  argyrophilic grain disease,  cor pulmonale,  ovarian hyperstimulation syndrome,  alzheimers disease,  cerebral amyloid angiopathy,  essential tremor,  alpha 1-antitrypsin deficiency,  tremor,  mastitis,  nephrotic syndrome,  disseminated intravascular coagulation,  fatty liver disease,  acute pancreatitis,  macular degeneration,  amyloidosis,  age related macular degeneration,  thromboembolism,  gingivitis,  peritonitis,  liver disease,  glaucoma,  rheumatoid arthritis,  dementia,  astrocytoma,  nasopharyngitis,  periodontitis,  cerebritis,  arthritis,  multiple sclerosis,  parkinsons disease,  hepatitis c,  cystic fibrosis,  myocardial infarction,  diabetes mellitus,  neuroblastoma,  melanoma,  obesity,  alcoholism,  pancreatitis,  hepatitis,  prostate cancer,  prostatitis,  endotheliitis neuronitis Show all 45
A2ML1 alpha-2-macroglobulin-like 1 12p13.31 paraneoplastic pemphigus,  pemphigus,  bullous pemphigoid alzheimers disease
A2MP1 alpha-2-macroglobulin pseudogene 1 12p13.31 alzheimers disease hepatocellular carcinoma
A4GALT alpha 1,4-galactosyltransferase 22q13.2 fabry disease,  hemolytic-uremic syndrome,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma,  endotheliitis leukemia Show all 6
A4GNT alpha-1,4-N-acetylglucosaminyltransferase 3q22.3 gastric adenocarcinoma,  pancreatic cancer,  gastric cancer,  pancreatitis adenocarcinoma
AA06 uncharacterized LOC100506677 17q12 neurofibromatosis neuroblastoma
AA1 Alopecia areata 1 18p11.3-p11.2 alopecia alopecia areata
AA2 Alopecia areata 2 16q11-q22 alopecia alopecia areata
AAA1 aortic aneurysm, familial abdominal 1 19q13 aortic aneurysm abdominal aortic aneurysm
AAA2 Aortic aneurysm, familial abdominal 2 4q31 aortic aneurysm
AAA4 Aortic aneurysm, familial abdominal, 4 12q13.3 aortic aneurysm
AAAS achalasia, adrenocortical insufficiency, alacrimia 12q13.13 triple-a syndrome,  achalasia,  idiopathic achalasia,  achalasia-addisonianism-alacrima syndrome,  accommodative spasm,  ruptured abdominal aortic aneurysm,  abdominal aortic aneurysm,  dysphagia,  dysautonomia,  aortic aneurysm,  axonal neuropathy,  myoclonus,  peripheral neuropathy,  polyneuropathy,  neutropenia,  short stature,  neuropathy,  infertility,  influenza,  esophagitis hepatitis Show all 21
AACS acetoacetyl-CoA synthetase 12q24.31 tracheal cancer compartment syndrome
AADAC arylacetamide deacetylase 3q25.1 neutral lipid storage disease,  ectropion,  lipid storage disease,  cytochrome p450,  infertility,  tuberculosis,  prostate cancer,  prostatitis hepatitis Show all 9
AADACL2 arylacetamide deacetylase-like 2 3q25.1 infertility tuberculosis
AADACL3 arylacetamide deacetylase-like 3 1p36.21 infertility tuberculosis
AADACL4 arylacetamide deacetylase-like 4 1p36.21 infertility tuberculosis
AADAT aminoadipate aminotransferase 4q33 huntingtons disease,  meningitis,  down syndrome,  pneumonia,  schizophrenia,  prostatitis neuronitis Show all 7
AAED1 AhpC/TSA antioxidant enzyme domain containing 1 9q22.33 gastric cancer
AAGAB alpha- and gamma-adaptin binding protein 15q23 keratoderma,  palmoplantar keratosis,  keratosis squamous cell carcinoma
AAK1 AP2 associated kinase 1 2p13.3 necrotizing fasciitis,  fasciitis,  colon adenocarcinoma,  adenocarcinoma neuronitis
AAMP angio-associated, migratory cell protein 2q35 colon adenocarcinoma,  normal pressure hydrocephalus,  coronary restenosis,  adenocarcinoma,  hydrocephalus,  endotheliitis,  atherosclerosis,  hepatitis b,  melanoma,  hepatitis alzheimers disease Show all 11
AANAT aralkylamine N-acetyltransferase 17q25.1 delayed sleep phase syndrome,  pineocytoma,  bipolar i disorder,  schizoaffective disorder,  scoliosis,  sleep disorder,  retinoblastoma,  autism spectrum disorder,  cholera,  cholangiocarcinoma,  retinitis,  asthma,  schizophrenia,  prostate cancer,  prostatitis breast cancer Show all 16
AARS alanyl-tRNA synthetase 16q22.1 "charcot-marie-tooth disease, axonal, type 2n",  charcot-marie-tooth neuropathy type 2n,  lip cancer,  charcot-marie-tooth disease type 2,  appendicitis,  mitochondrial cardiomyopathy,  charcot-marie-tooth neuropathy type 2,  axonal neuropathy,  tooth disease,  charcot-marie-tooth disease,  distal hereditary motor neuropathy,  idiopathic pulmonary fibrosis,  myositis,  charcot-marie-tooth neuropathy,  type 1 diabetes mellitus,  polymyositis,  interstitial lung disease,  pulmonary fibrosis,  dermatomyositis,  type 1 diabetes,  scleroderma,  neuropathy,  pneumonia,  diabetes mellitus,  myopathy,  renal cell carcinoma,  tuberculosis neuronitis Show all 28
AARS2 alanyl-tRNA synthetase 2, mitochondrial 6p21.1 combined oxidative phosphorylation deficiency 8,  mitochondrial cardiomyopathy,  hypertrophic cardiomyopathy,  pneumonia tuberculosis
AARSD1 alanyl-tRNA synthetase domain containing 1 17q21.31 ovarian cancer
AASDH aminoadipate-semialdehyde dehydrogenase 4q12 pneumonia tuberculosis
AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase 11q22.3 williams-beuren syndrome
AASS aminoadipate-semialdehyde synthase 7q31.32 breast lymphoma,  hyperlysinemia,  peliosis hepatis,  saccharopinuria ,  nemaline myopathy,  anoxia,  drug dependence,  pharyngitis,  diabetic retinopathy,  myopathy,  ischemia,  diabetes mellitus,  hepatocellular carcinoma,  endotheliitis hepatitis Show all 15
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 atopy asthma
AASTH18 Allergic/atopic asthma related QTL 18 asthma
AASTH19 Allergic/atopic asthma related QTL 19 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
AASTH3 Allergic/atopic asthma related QTL 3 asthma
AASTH30 Allergic/atopic asthma related QTL 30 asthma
AASTH31 Allergic/atopic asthma related QTL 31 asthma
AASTH32 Allergic/Atopic asthma related QTL 32 asthma
AASTH33 Allergic/atopic asthma related QTL 33 asthma atopy
AASTH34 Allergic/atopic asthma related QTL 34 atopy asthma
AASTH35 Allergic/atopic asthma related QTL 35 atopy asthma
AASTH36 Allergic/atopic asthma related QTL 36 asthma atopy
AASTH37 Allergic/atopic asthma related QTL 37 atopy 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
AASTH45 Allergic/atopic asthma related QTL 45 asthma
AASTH46 Allergic/atopic asthma related QTL 46 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 atopy 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 disease aortic aneurysm
AAT2 Aortic aneurysm, familial thoracic 2 5q13-q14 familial thoracic aortic aneurysm and dissection,  aortic aneurysm thoracic aortic aneurysm
AATF apoptosis antagonizing transcription factor 17q12 molluscum contagiosum,  dementia,  retinoblastoma,  obesity,  alzheimers disease,  breast cancer neuronitis Show all 7
AATK apoptosis-associated tyrosine kinase 17q25.3 moyamoya disease,  neuroblastoma,  adenoma neuronitis
AAVS1 adeno-associated virus integration site 1 19q13|19q13-qter herpes simplex,  rabies,  homocystinuria,  sinusitis,  glaucoma,  cystic fibrosis retinitis Show all 7
ABAT 4-aminobutyrate aminotransferase 16p13.2 homocarnosinosis,  gaba aminotransferase deficiency,  early myoclonic encephalopathy,  succinic semialdehyde dehydrogenase deficiency,  lennox-gastaut syndrome,  hypotonia,  stiff-person syndrome,  nicotine addiction,  paranoid schizophrenia,  panic disorder,  status epilepticus,  tardive dyskinesia,  schizophrenia,  neurologic diseases,  temporal lobe epilepsy,  narcolepsy,  ischemia,  lateral sclerosis,  amyotrophic lateral sclerosis,  alcoholism,  alzheimers disease,  cerebritis,  tuberculosis,  esophagitis,  hypoxia,  pancreatitis neuronitis Show all 27
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 9q31.1 tangier disease,  hypoalphalipoproteinemias,  lewis-sumner syndrome,  abca1-associated familial high density lipoprotein deficiency,  lysosomal acid lipase deficiency,  familial hdl deficiency,  familial hypercholesterolemia,  chediak-higashi syndrome,  syringomyelia,  scott syndrome,  hyperalphalipoproteinemia,  "xeroderma pigmentosum, group c",  niemann-pick disease,  cerebral amyloid angiopathy,  picks disease,  splenomegaly,  aortic atherosclerosis,  xanthomatosis,  hypercholesterolemia,  ischemic heart disease,  coronary heart disease,  atherosclerosis,  cardiovascular disease risk factor ),  pterygium,  "coronary artery disease in familial hypercholesterolemia, protection against",  hypertriglyceridemia,  xeroderma pigmentosum,  antiphospholipid syndrome,  cerebral infarction,  patent ductus arteriosus,  lipodystrophy,  age related macular degeneration,  cerebritis,  neurologic diseases,  macular degeneration,  metabolic disorders,  peripheral neuropathy,  insulinoma,  alzheimers disease,  sjogrens syndrome,  cystic fibrosis,  eclampsia,  pre-eclampsia,  polycystic ovary syndrome,  glomerulonephritis,  hyperglycemia,  obesity,  myocardial infarction,  vascular disease,  amyotrophic lateral sclerosis,  ischemia,  lateral sclerosis,  dementia,  diabetes mellitus,  dermatitis,  hepatocellular carcinoma,  kidney disease,  neuropathy,  prostate cancer,  endotheliitis,  prostatitis,  alcoholism,  hypertension,  rheumatoid arthritis,  tuberculosis,  arthritis,  schizophrenia,  retinitis,  hypoxia,  breast cancer,  thyroiditis,  melanoma,  lung cancer,  hepatitis,  pancreatitis neuronitis Show all 76
ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 17q24.3 tuberculosis
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 2q35 ichthyosis lamellar 2,  harlequin type ichthyosis,  abca12-related autosomal recessive congenital ichthyosis,  ichthyosis,  autosomal recessive congenital ichthyosis,  ectropion,  ichthyosis vulgaris,  congenital ichthyosiform erythroderma,  tangier disease,  keratoderma,  skin disease,  alopecia,  pneumonia,  tuberculosis,  pancreatic cancer,  alzheimers disease pancreatitis Show all 17
ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 7p12.3 tangier disease,  autism spectrum disorder,  bipolar disorder,  pneumonia,  tuberculosis schizophrenia Show all 6
ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2 9q34.3 developmental coordination disorder,  neuroma,  alzheimers disease,  macular degeneration,  dementia,  systemic lupus erythematosus,  lupus erythematosus,  ataxia,  tuberculosis,  atherosclerosis,  lung cancer prostatitis Show all 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 16p13.3 abca3-related pulmonary surfactant metabolism dysfunction,  surfactant dysfunction,  pulmonary surfactant metabolism dysfunction,  pulmonary alveolar proteinosis,  congenital ichthyosiform erythroderma,  tangier disease,  interstitial lung disease,  respiratory failure,  ichthyosis,  pulmonary fibrosis,  acute myeloid leukemia,  b-cell lymphomas,  pneumonia,  myeloid leukemia,  thyroiditis,  tuberculosis,  leukemia breast cancer Show all 18
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1p22.1 stargardt disease,  "stargardt disease, autosomal recessive",  retinitis pigmentosa 19,  cone-rod dystrophy 3 ,  stargardt disease-1 ,  stargardt macular degeneration,  abca4-related stargardt disease 1,  abca4-related retinitis pigmentosa,  age-related macular degeneration 2,  macular degeneration,  cone-rod dystrophy 5,  "retinal dystrophy, early-onset, severe",  cone-rod dystrophy,  congenital toxoplasmosis,  retinitis pigmentosa 3,  toxoplasmosis,  rhyns syndrome,  partial central choroid dystrophy,  scotoma,  age related macular degeneration,  primary open angle glaucoma,  choroideremia,  retinitis,  open-angle glaucoma,  macular holes,  choroiditis,  vitelliform macular dystrophy,  retinoschisis,  retinitis pigmentosa,  eye disease,  tangier disease,  orofacial cleft,  retinal disease,  glaucoma,  pigmentary retinopathy,  blindness,  fundus dystrophy,  leber congenital amaurosis,  night blindness,  retinal degeneration,  cleft palate,  neurologic diseases,  cleft lip,  esophageal squamous cell carcinoma,  atherosclerosis,  tuberculosis,  hepatitis b,  esophagitis,  squamous cell carcinoma hepatitis Show all 50
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5 17q24.3 osteosarcoma,  tuberculosis,  melanoma,  lung cancer prostatitis
ABCA6 ATP-binding cassette, sub-family A (ABC1), member 6 17q24.3 tuberculosis lung cancer
ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 19p13.3 neonatal respiratory failure,  asperger syndrome,  respiratory failure,  tangier disease,  neurologic diseases,  sjogrens syndrome,  coronary heart disease,  tuberculosis,  schizophrenia,  alzheimers disease lung cancer Show all 11
ABCA8 ATP-binding cassette, sub-family A (ABC1), member 8 17q24.2 tuberculosis
ABCA9 ATP-binding cassette, sub-family A (ABC1), member 9 17q24.2 tuberculosis
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 7q21.12 ileus,  paralytic ileus,  inflammatory bowel disease 13 ,  soft tissue sarcoma,  uterine sarcoma,  cannabis dependence,  orbit rhabdomyosarcoma,  microsporidiosis,  5-fluorouracil toxicity,  postural hypotension,  multicentric castleman disease,  plasmablastic lymphoma,  warfarin sensitivity,  chronic leukemia,  ganglioneuroblastoma,  pervasive developmental disorder,  parathyroid adenoma,  germ cell cancer,  steroid-resistant nephrotic syndrome,  castlemans disease,  myeloma,  heroin dependence,  acute leukemia,  inflammatory bowel disease,  alcoholic pancreatitis,  prolymphocytic leukemia,  brain glioma,  gilbert syndrome,  chronic pain,  gastroparesis,  rhabdomyosarcoma,  embryonal rhabdomyosarcoma,  cerebral amyloid angiopathy,  ovarian cancer,  gingival overgrowth,  brain cancer,  tardive dyskinesia,  hepatoblastoma,  lymphoblastic leukemia,  colon adenocarcinoma,  childhood leukemia,  primary hyperparathyroidism,  status epilepticus,  balanitis,  myeloid leukemia,  lymphoblastic lymphoma,  intrahepatic cholestasis,  osteonecrosis,  peripheral t-cell lymphoma,  visceral leishmaniasis,  peptic ulcer,  nephroblastoma,  primary sclerosing cholangitis,  renal clear cell carcinoma,  sclerosing cholangitis,  familial hypercholesterolemia,  addisons disease,  osteosarcoma,  chordoma,  cholangitis,  non-hodgkin lymphoma,  adrenocortical carcinoma,  leukopenia,  familial mediterranean fever,  hodgkins lymphoma,  gingivitis,  toxic encephalopathy,  monocytic leukemia,  acute myeloid leukemia,  myelodysplastic syndromes,  breast adenocarcinoma,  hepatitis a,  chronic myeloid leukemia,  lung cancer,  t cell deficiency,  cholestasis,  hematopoietic stem cell transplantation,  fibrous histiocytoma,  temporal lobe epilepsy,  sarcoma,  benign tumors,  tremor,  histiocytoma,  gallbladder cancer,  hyperparathyroidism,  mediastinitis,  acute lymphoblastic leukemia,  wilms tumor,  mycosis fungoides,  ductal carcinoma in situ,  leiomyosarcoma,  congestive heart failure,  esophagitis,  gigantism,  leishmaniasis,  adenocarcinoma,  xeroderma pigmentosum,  multiple myeloma,  ulcerative colitis,  myasthenia gravis,  malignant glioma,  hypercholesterolemia,  major depressive disorder,  acute promyelocytic leukemia,  gastrointestinal stromal tumor,  tuberous sclerosis,  attention deficit hyperactivity disorder,  neuroblastoma,  renal cell carcinoma,  viral hepatitis,  noma,  synovial sarcoma,  severe combined immunodeficiency,  was-related disorders,  cytochrome p450,  neutropenia,  cutaneous t cell lymphoma,  gastric cancer,  peripheral neuropathy,  male infertility,  mood disorder,  leukemia,  sporadic breast cancer,  nephrotic syndrome,  squamous cell carcinoma,  mantle cell lymphoma,  stomach cancer,  skin cancer,  cystic fibrosis,  adult t-cell leukemia,  hiv type 1,  breast cancer,  b-cell chronic lymphocytic leukemia,  hepatocellular carcinoma,  squamous cell carcinoma of the head and neck,  behcets disease,  purpura,  vasculitis,  vaginitis,  primary biliary cirrhosis,  cervicitis,  adenoma,  cleft lip,  chondrosarcoma,  diarrhea,  graft versus host disease,  duodenitis,  infertility,  gastritis,  vaccinia,  glioblastoma,  bladder carcinoma,  anorexia nervosa,  transitional cell carcinoma,  gastric adenocarcinoma,  colorectal cancer,  fibrosarcoma,  non-small cell lung carcinoma,  encephalitis,  colon cancer,  cholera,  pituitary adenoma,  glomerulonephritis,  lung adenocarcinoma,  thrombosis,  chronic lymphocytic leukemia,  glaucoma,  medulloblastoma,  malaria,  crohns disease,  esophageal cancer,  essential hypertension,  kaposis sarcoma,  t-cell leukemia,  endometrial carcinoma,  pancreatitis,  esophageal adenocarcinoma,  intrahepatic cholangiocarcinoma,  choroiditis,  laryngitis,  bipolar disorder,  alcoholism,  cholangiocarcinoma,  neuropathy,  down syndrome,  nasopharyngitis,  asthma,  esophageal squamous cell carcinoma,  oral squamous cell carcinoma,  dementia,  retinoblastoma,  b-cell lymphomas,  cerebritis,  peritonitis,  astrocytoma,  hypertension,  kidney disease,  influenza,  myocardial infarction,  parkinsons disease,  cervical cancer,  multiple sclerosis,  ischemia,  pancreatic cancer,  atherosclerosis,  thyroiditis,  rheumatoid arthritis,  systemic lupus erythematosus,  lupus erythematosus,  obesity,  endotheliitis,  arthritis,  schizophrenia,  hepatitis b,  hypoxia,  retinitis,  tuberculosis,  alzheimers disease,  hepatitis,  prostate cancer,  melanoma,  prostatitis neuronitis Show all 223
ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 1q42.13 bare lymphocyte syndrome,  acute myeloid leukemia,  myeloid leukemia,  tuberculosis,  thyroiditis,  leukemia prostatitis Show all 7
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 2q31.1 low gamma-gt familial intrahepatic cholestasis,  "cholestasis, progressive familial intrahepatic 2",  abcb11-related intrahepatic cholestasis,  cholestasis,  intrahepatic cholestasis,  benign recurrent intrahepatic cholestasis,  intrahepatic cholestasis of pregnancy,  liver disease,  alagille syndrome,  sclerosing cholangitis,  cholelithiasis,  primary sclerosing cholangitis,  biliary atresia,  cholangitis,  mediastinitis,  myelodysplastic syndromes,  jaundice,  primary biliary cirrhosis,  hiv type 1,  vaccinia,  cystic fibrosis,  lung cancer,  osteosarcoma,  duodenitis,  esophageal adenocarcinoma,  sarcoma,  coronary heart disease,  down syndrome,  cytochrome p450,  acute myeloid leukemia,  hodgkins lymphoma,  non-hodgkin lymphoma,  b-cell lymphomas,  hepatitis c,  crohns disease,  myeloid leukemia,  melanoma,  neuroblastoma,  alcoholism,  prostatitis,  leukemia,  adenocarcinoma,  hepatitis,  esophagitis,  breast cancer,  hepatocellular carcinoma,  ovarian cancer prostate cancer Show all 48
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 7q21.12 intrahepatic cholestasis of pregnancy,  chronic leukemia,  gallbladder disease,  "cholestasis, progressive familial intrahepatic 3",  gallbladder disease 1 ,  "cholestasis of pregnancy, intrahepatic 3",  cholelithiasis,  digestive diseases,  cholangitis,  alagille syndrome,  cholestasis,  choledocholithiasis,  intrahepatic cholestasis,  prolymphocytic leukemia,  sclerosing cholangitis,  primary sclerosing cholangitis,  biliary atresia,  gallbladder cancer,  b-cell chronic lymphocytic leukemia,  primary biliary cirrhosis,  peripheral neuropathy,  jaundice,  liver disease,  hepatitis c,  chronic lymphocytic leukemia,  esophageal adenocarcinoma,  cataract,  hepatocellular carcinoma,  coronary heart disease,  neuropathy,  cystic fibrosis,  acute leukemia,  hepatitis,  leukemia,  crohns disease,  cholangiocarcinoma,  myeloma,  colon cancer,  hepatitis b,  esophagitis,  ovarian cancer,  pancreatitis adenocarcinoma Show all 43
ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 7p21.1 crohns disease,  obesity,  melanoma,  pancreatic cancer,  colorectal cancer,  pancreatitis leukemia Show all 7
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 2q35 exhibitionism,  stereotypic movement disorder,  trichotillomania ,  aminoaciduria,  adrenoleukodystrophy,  coloboma,  cholestasis,  cystic fibrosis,  microphthalmia,  cataract,  pneumonia,  choroiditis,  glioblastoma,  tuberculosis,  retinitis,  breast cancer,  hepatocellular carcinoma hepatitis Show all 18
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 Xq13.3 alcohol abuse,  x-linked sideroblastic anemia,  x-linked sideroblastic anemia with ataxia,  nephropathia epidemica,  congenital syphilis,  giant hemangioma,  "anemia, sideroblastic, with ataxia",  sideroblastic anemia,  x-linked cerebellar ataxia,  heart aneurysm,  majeed syndrome,  refractory anemia,  sleeping sickness,  syphilis,  acute myocarditis,  leukopenia,  chikungunya,  portal vein thrombosis,  viral hepatitis,  friedreich ataxia,  pearson syndrome,  intrahepatic cholestasis of pregnancy,  substance abuse,  short bowel syndrome,  intrahepatic cholestasis,  liver disease,  anemia,  cholestasis,  nonalcoholic steatohepatitis,  myocarditis,  acute pancreatitis,  visceral leishmaniasis,  leptospirosis,  hypertriglyceridemia,  hepatitis a,  agammaglobulinemia,  autoimmune hepatitis,  eating disorder,  hepatitis b,  acute myocardial infarction,  addisons disease,  schistosomiasis,  hepatitis c,  alcohol dependence,  leishmaniasis,  morbid obesity,  myocardial infarction,  hemangioma,  thrombosis,  cerebellar ataxia,  alcoholism,  fatty liver disease,  liver cirrhosis,  spinocerebellar ataxia,  dermatomyositis,  ataxia,  jaundice,  hepatitis,  primary biliary cirrhosis,  proteinuria,  obesity,  thrombocytopenia,  hypercholesterolemia,  ischemia,  blindness,  hepatocellular carcinoma,  pneumonia,  pancreatitis,  diabetes mellitus,  hypertension,  tuberculosis,  colorectal cancer,  thyroiditis,  lung cancer,  prostatitis,  prostate cancer breast cancer Show all 77
ABCB8 ATP-binding cassette, sub-family B (MDR/TAP), member 8 7q36.1 acute myeloid leukemia,  myeloid leukemia,  tuberculosis,  melanoma leukemia
ABCB9 ATP-binding cassette, sub-family B (MDR/TAP), member 9 12q24.31 tuberculosis thyroiditis
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 16p13.11 intraocular retinoblastoma,  chronic leukemia,  cholangiolocellular carcinoma,  dubin-johnson syndrome,  microsporidiosis,  intraocular lymphoma,  cholestasis,  kernicterus,  ewings family of tumors,  brain glioma,  epithelioid sarcoma,  intrahepatic cholestasis of pregnancy,  intrahepatic cholestasis,  acute liver failure,  retinoblastoma,  bladder transitional cell carcinoma,  status epilepticus,  transitional cell carcinoma,  childhood leukemia,  colon adenocarcinoma,  lymphoblastic leukemia,  fainting,  nephroblastoma,  acute leukemia,  chordoma,  myeloid leukemia,  renal clear cell carcinoma,  leukopenia,  soft tissue sarcoma,  monocytic leukemia,  fibrous histiocytoma,  glioblastoma,  nasopharyngitis,  histiocytoma,  lung cancer,  stomatitis,  wilms tumor,  leiomyosarcoma,  adult t-cell leukemia,  malignant glioma,  testicular cancer,  rhabdomyosarcoma,  sarcoma,  psoriatic arthritis,  gastrointestinal stromal tumor,  acute myeloid leukemia,  tuberous sclerosis,  fibrosarcoma,  adenocarcinoma,  meningioma,  temporal lobe epilepsy,  cystic fibrosis,  neutropenia,  hypoglycemia,  acute lymphoblastic leukemia,  malignant mesothelioma,  myeloma,  acute promyelocytic leukemia,  hepatoblastoma,  ovarian cancer,  psoriasis,  leukemia,  primary biliary cirrhosis,  osteosarcoma,  gastric cancer,  metabolic disorders,  duodenitis,  chronic myeloid leukemia,  non-small cell lung carcinoma,  diffuse large b-cell lymphoma,  hepatocellular carcinoma,  arthritis,  squamous cell carcinoma,  b-cell lymphomas,  glaucoma,  vascular disease,  melanoma,  medulloblastoma,  t-cell leukemia,  myelodysplastic syndromes,  malaria,  kaposis sarcoma,  endometrial carcinoma,  thyroid cancer,  lung adenocarcinoma,  choroiditis,  thyroiditis,  esophageal adenocarcinoma,  cytochrome p450,  colon cancer,  intrahepatic cholangiocarcinoma,  down syndrome,  cholangiocarcinoma,  oral squamous cell carcinoma,  esophageal squamous cell carcinoma,  rheumatoid arthritis,  hodgkins lymphoma,  non-hodgkin lymphoma,  infertility,  colorectal cancer,  breast cancer,  multiple myeloma,  inflammatory bowel disease,  astrocytoma,  neuroblastoma,  liver disease,  pancreatitis,  renal cell carcinoma,  asthma,  esophagitis,  atherosclerosis,  systemic lupus erythematosus,  lupus erythematosus,  prostatitis,  alcoholism,  hypertension,  pancreatic cancer,  retinitis,  hypoxia,  endotheliitis,  prostate cancer,  hepatitis neuronitis Show all 123
ABCC10 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 6p21.1 cftr-related disorders,  was-related disorders,  hiv/aids,  lung cancer adenocarcinoma
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 16q12.1 "earwax, wet/dry",  "axillary odor, variation in",  "colostrum secretion, variation in",  dubin-johnson syndrome,  patent ductus arteriosus,  dengue hemorrhagic fever,  hemorrhagic fever,  laryngeal squamous cell carcinoma,  acute myeloid leukemia,  laryngitis,  type 1 diabetes,  myeloid leukemia,  breast cancer,  rheumatoid arthritis,  arthritis,  pancreatitis,  leukemia,  squamous cell carcinoma endotheliitis Show all 19
ABCC12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 16q12.1 dubin-johnson syndrome,  breast cancer pancreatitis
ABCC13 ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene 21q11.2 down syndrome,  hepatitis leukemia
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 10q24.2 dubin-johnson syndrome,  rotor syndrome,  cholestasis,  intrahepatic cholestasis of pregnancy,  dysembryoplastic neuroepithelial tumor,  intrahepatic cholestasis,  cholangitis,  factor vii deficiency,  hepatocellular adenoma,  central nervous system lymphoma,  hepatoblastoma,  obstructive jaundice,  sclerosing cholangitis,  malignant mesothelioma,  primary sclerosing cholangitis,  biliary atresia,  leukopenia,  primary biliary cirrhosis,  jaundice,  nasopharyngitis,  ovarian cancer,  liver disease,  hepatitis c,  spina bifida,  lung cancer,  adult t-cell leukemia,  fatty liver disease,  neutropenia,  lymphoblastic leukemia,  diarrhea,  hepatocellular carcinoma,  retinoblastoma,  duodenitis,  cystic fibrosis,  germ cell tumors,  myeloid leukemia,  hepatitis,  metabolic disorders,  chronic myeloid leukemia,  colorectal cancer,  colon adenocarcinoma,  esophageal adenocarcinoma,  malignant glioma,  cytochrome p450,  t-cell leukemia,  acute myeloid leukemia,  acute lymphoblastic leukemia,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma,  esophageal squamous cell carcinoma,  ulcerative colitis,  hodgkins lymphoma,  acute leukemia,  non-hodgkin lymphoma,  infertility,  leukemia,  adenocarcinoma,  breast cancer,  renal cell carcinoma,  neuropathy,  pancreatitis,  systemic lupus erythematosus,  lupus erythematosus,  squamous cell carcinoma,  esophagitis,  obesity,  pancreatic cancer,  adenoma,  thyroiditis,  neuroblastoma,  rheumatoid arthritis,  colon cancer,  arthritis,  alzheimers disease,  gastric cancer endotheliitis Show all 76
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 17q21.33 cholangiolocellular carcinoma,  extrahepatic cholestasis,  dubin-johnson syndrome,  obstructive jaundice,  cholestasis,  colon adenocarcinoma,  jaundice,  soft tissue sarcoma,  malignant glioma,  esophageal adenocarcinoma,  primary biliary cirrhosis,  barretts esophagus,  non-small cell lung carcinoma,  malignant mesothelioma,  acute leukemia,  lymphoblastic leukemia,  hepatocellular carcinoma,  adenocarcinoma,  acute myeloid leukemia,  colon cancer,  liver disease,  metabolic disorders,  pancreatic cancer,  lung adenocarcinoma,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma,  acute lymphoblastic leukemia,  nasopharyngitis,  pancreatitis,  infertility,  astrocytoma,  myeloid leukemia,  colorectal cancer,  leukemia,  glioblastoma,  cystic fibrosis,  lung cancer,  sarcoma,  hepatitis c,  systemic lupus erythematosus,  lupus erythematosus,  breast cancer,  gastric cancer,  esophagitis,  hepatitis prostatitis Show all 46
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 13q32.1 dubin-johnson syndrome,  acute liver failure,  osteomalacia,  cholestasis,  kawasaki disease,  primary biliary cirrhosis,  lymphoblastic leukemia,  lung cancer,  metabolic disorders,  malignant glioma,  bipolar disorder,  acute myeloid leukemia,  acute lymphoblastic leukemia,  retinoblastoma,  inflammatory bowel disease,  leukemia,  pancreatitis,  myeloid leukemia,  glioblastoma,  obesity,  retinitis,  pancreatic cancer,  neuroblastoma,  gastric cancer,  colon cancer,  schizophrenia,  breast cancer,  hepatocellular carcinoma,  prostate cancer,  prostatitis,  endotheliitis hepatitis Show all 32
ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 3q27.1 lymphoblastic leukemia,  dysembryoplastic neuroepithelial tumor,  dubin-johnson syndrome,  acute lymphoblastic leukemia,  arteriovenous malformation,  benign mesothelioma,  acute liver failure,  status epilepticus,  morquio syndrome b,  leukemia,  malignant mesothelioma,  colon adenocarcinoma,  lung cancer,  acute myeloid leukemia,  malignant glioma,  herpes simplex,  cytochrome p450,  nasopharyngitis,  cystic fibrosis,  myeloid leukemia,  pancreatitis,  glioblastoma,  cervical cancer,  colon cancer,  pancreatic cancer,  neuroblastoma,  rheumatoid arthritis,  cerebritis,  arthritis,  retinitis,  adenocarcinoma,  hepatocellular carcinoma,  endotheliitis,  cervicitis,  breast cancer,  colorectal cancer hepatitis Show all 37
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 16p13.11 angioid streaks,  "pseudoxanthoma elasticum, forme fruste",  acquired pseudoxanthoma elasticum,  elastosis perforans serpiginosa,  arterial calcification of infancy,  generalized arterial calcification of infancy,  retinal drusen,  dubin-johnson syndrome,  cutis laxa,  wilson disease,  connective tissue disease,  familial mediterranean fever,  nephrolithiasis,  choroiditis,  eye disease,  metabolic disorders,  retinal disease,  abdominal aortic aneurysm,  coronary heart disease,  aortic aneurysm,  primary biliary cirrhosis,  amyloidosis,  retinitis pigmentosa,  vascular disease,  retinitis,  acute myocardial infarction,  macular degeneration,  myocardial infarction,  acute myeloid leukemia,  acute lymphoblastic leukemia,  infertility,  kidney disease,  lymphoblastic leukemia,  cystic fibrosis,  myeloid leukemia,  leukemia,  hepatitis b,  ischemia,  colon cancer,  cervicitis,  colorectal cancer,  hepatitis adenocarcinoma Show all 43
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 11p15.1 leucine-sensitive hypoglycemia of infancy,  "hyperinsulinemic hypoglycemia, familial, 1",  abcc8-related hyperinsulinism,  abcc8-related permanent neonatal diabetes mellitus,  abcc8-related transient neonatal diabetes mellitus 2,  transient neonatal diabetes mellitus,  familial hyperinsulinism ,  "diabetes, permanent neonatal",  "hyperinsulinism, focal",  "maturity-onset diabetes of the young, type 1",  hyperinsulinism,  diabetes mellitus,  hypoglycemia,  hyperinsulinemic hypoglycemia,  neonatal diabetes mellitus,  permanent neonatal diabetes mellitus,  fanconi bickel syndrome,  autosomal dominant disease,  pancreatic agenesis,  hemihypertrophy,  monogenic diabetes,  "diabetes, type 2",  usher syndrome,  insulinoma,  beckwith-wiedemann syndrome,  gestational diabetes,  hyperglycemia,  glucose intolerance,  stomatitis,  pituitary adenoma,  morbid obesity,  metabolic disorders,  obesity,  ischemia,  polycystic kidney disease,  cystic fibrosis,  insulin resistance,  adenoma,  esophageal adenocarcinoma,  type 1 diabetes,  kidney disease,  pancreatitis,  cerebritis,  esophagitis,  retinitis,  hypoxia,  adenocarcinoma,  endotheliitis neuronitis Show all 49
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 12p12.1 coronary artery vasospasm,  acromegaloid facial appearance syndrome,  cantu syndrome,  hypertrichosis with acromegaloid facial appearence,  abcc9-related dilated cardiomyopathy,  abcc9-related familial atrial fibrillation,  familial atrial fibrillation,  osteochondrodysplasia,  hypertrichosis,  dilated cardiomyopathy,  brachydactyly,  syncope,  pancreatitis,  patent ductus arteriosus,  epididymitis,  congestive heart failure,  thromboembolism,  hypotonia,  hypertension,  acute myocardial infarction,  intellectual disability,  myocardial infarction,  essential hypertension,  choroiditis,  ischemia,  diabetes mellitus,  hypoxia neuronitis Show all 28
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 Xq28 adrenoleukodystrophy,  peroxisomal disease,  adrenomyeloneuropathy,  cortical blindness,  addisons disease,  spinocerebellar degeneration,  tangier disease,  peroxisome biogenesis disorders,  metabolic disorders,  neurologic diseases,  zellweger syndrome ,  hemophilia,  protein s deficiency,  leukodystrophy,  spastic paraparesis,  blindness,  multiple sclerosis,  spasticity,  dementia,  renal cell carcinoma,  tuberculosis,  ataxia,  cerebritis,  thyroiditis alzheimers disease Show all 25
ABCD1P1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 1 2p11 adrenoleukodystrophy
ABCD1P2 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 2 10p11.1 adrenoleukodystrophy
ABCD1P3 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 3 16p11.2 adrenoleukodystrophy
ABCD1P4 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 4 22q11.1 adrenoleukodystrophy
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2 12q12 peroxisomal disease,  adrenoleukodystrophy,  zellweger syndrome ,  neurologic diseases,  protein s deficiency,  tuberculosis,  pancreatic cancer,  pancreatitis thyroiditis Show all 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3 1p21.3 zellweger syndrome ,  peroxisomal disease,  adrenoleukodystrophy,  peroxisome biogenesis disorders,  protein s deficiency,  tuberculosis neuronitis Show all 7
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 14q24.3 methylmalonic aciduria and homocystinuria type cblj,  cbij,  peroxisomal disease,  disorders of intracellular cobalamin metabolism,  adrenoleukodystrophy,  homocystinuria,  intrahepatic cholestasis,  cholestasis,  hypotonia,  ataxia,  tuberculosis anemia Show all 12
ABCE1 ATP-binding cassette, sub-family E (OABP), member 1 4q31.21 median neuropathy,  ulnar neuropathy,  neuropathy,  lung adenocarcinoma,  colon cancer,  pneumonia,  lung cancer,  prostate cancer,  prostatitis adenocarcinoma Show all 10
ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 6p21.33 autoimmune pancreatitis,  eosinophilic esophagitis,  chronic lymphocytic leukemia,  systemic lupus erythematosus,  esophagitis,  lupus erythematosus,  tuberculosis,  pancreatitis,  lung cancer leukemia Show all 10
ABCF2 ATP-binding cassette, sub-family F (GCN20), member 2 7q36.1 clear cell adenocarcinoma,  cystic fibrosis,  acute myeloid leukemia,  glaucoma,  ovarian cancer,  myeloid leukemia,  tuberculosis,  adenocarcinoma,  breast cancer,  leukemia hepatitis Show all 11
ABCF3 ATP-binding cassette, sub-family F (GCN20), member 3 3q27.1 west nile virus,  major depressive disorder tuberculosis
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 21q22.3 blue color blindness,  tangier disease,  color blindness,  sitosterolemia,  autosomal recessive nonsyndromic deafness,  cetp deficiency,  nonsyndromic deafness,  pulmonary alveolar proteinosis,  blindness,  neurologic diseases,  ischemic heart disease,  atherosclerosis,  hypercholesterolemia,  insulinoma,  diabetes mellitus,  endotheliitis,  obesity,  neuroblastoma,  hypertension,  tuberculosis,  alzheimers disease,  squamous cell carcinoma,  ovarian cancer,  lung cancer,  prostate cancer,  prostatitis,  hepatitis,  breast cancer neuronitis Show all 29
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 4q22.1 nonpapillary renal cell carcinoma,  persistent fetal circulation syndrome,  choriocarcinoma,  adult acute lymphocytic leukemia,  breast cancer,  dysembryoplastic neuroepithelial tumor,  acute lymphocytic leukemia,  placental choriocarcinoma,  gout,  gilbert syndrome,  toxic encephalopathy,  central nervous system lymphoma,  cerebral amyloid angiopathy,  hyperuricemia,  cardiovascular disease risk factor ),  breast adenocarcinoma,  brain cancer,  chronic myeloid leukemia,  oral lichen planus,  neuroendocrine carcinoma,  malignant pleural mesothelioma,  lichen planus,  cholestasis,  acute leukemia,  gastrointestinal stromal tumor,  acute myeloid leukemia,  malignant glioma,  fibrosarcoma,  lung cancer,  neurologic diseases,  lymphoblastic leukemia,  neutropenia,  diffuse large b-cell lymphoma,  mantle cell lymphoma,  myeloma,  retinoblastoma,  hepatoblastoma,  myeloid leukemia,  diarrhea,  b-cell lymphomas,  glioblastoma,  renal cell carcinoma,  intellectual disability,  cystic fibrosis,  acute lymphoblastic leukemia,  osteosarcoma,  acute myocardial infarction,  esophageal squamous cell carcinoma,  rhabdomyosarcoma,  gastric cancer,  non-small cell lung carcinoma,  thyroid cancer,  esophageal adenocarcinoma,  leukemia,  myocardial infarction,  endometrial carcinoma,  multiple myeloma,  ulcerative colitis,  cytochrome p450,  colorectal cancer,  pancreatitis,  intrahepatic cholangiocarcinoma,  hepatocellular carcinoma,  colon cancer,  cholangiocarcinoma,  inflammatory bowel disease,  nasopharyngitis,  hodgkins lymphoma,  non-hodgkin lymphoma,  psoriasis,  cerebritis,  ovarian cancer,  endometriosis,  adenocarcinoma,  cervical cancer,  pancreatic cancer,  esophagitis,  multiple sclerosis,  ischemia,  prostate cancer,  squamous cell carcinoma,  atherosclerosis,  melanoma,  thyroiditis,  prostatitis,  cervicitis,  rheumatoid arthritis,  arthritis,  alzheimers disease,  hypoxia,  endotheliitis hepatitis Show all 92
ABCG4 ATP-binding cassette, sub-family G (WHITE), member 4 11q23.3 clostridium difficile,  dubin-johnson syndrome,  tangier disease,  zellweger syndrome ,  cone-rod dystrophy,  adrenoleukodystrophy,  retinal degeneration,  down syndrome,  pneumonia,  tuberculosis,  cystic fibrosis,  atherosclerosis retinitis Show all 13
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 2p21 sitosterolemia,  aortic atherosclerosis,  macrothrombocytopenia,  tangier disease,  hypercholesterolemia,  cholelithiasis,  familial hypercholesterolemia,  atherosclerosis,  thrombocytopenia,  coronary heart disease,  insulin resistance,  hypertension,  alzheimers disease,  colorectal cancer,  hepatitis breast cancer Show all 16
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 2p21 gallbladder disease 4 ,  gallbladder disease,  sitosterolemia,  aortic atherosclerosis,  macrothrombocytopenia,  atherosclerosis,  hypercholesterolemia,  cholelithiasis,  biliary tract cancer,  familial hypercholesterolemia,  gallbladder cancer,  thrombocytopenia,  vascular disease,  coronary heart disease,  kidney disease,  insulin resistance,  hypertension,  colorectal cancer,  hepatitis,  lung cancer breast cancer Show all 21
ABHD10 abhydrolase domain containing 10 3q13.2 hepatocellular carcinoma
ABHD11 abhydrolase domain containing 11 7q11.23 williams syndrome,  williams-beuren syndrome,  lung adenocarcinoma adenocarcinoma
ABHD12 abhydrolase domain containing 12 20p11.21 polyneuropathy,  refsum disease,  cataract,  retinitis pigmentosa,  "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract",  ataxia,  retinitis,  peripheral neuropathy,  sensorineural hearing loss,  spasticity neuropathy Show all 11
ABHD13 abhydrolase domain containing 13 13q33.3 tuberculosis
ABHD14A abhydrolase domain containing 14A 3p21.2 biotinidase deficiency,  isovaleric acidemia,  viral hepatitis,  hepatitis neuronitis
ABHD14B abhydrolase domain containing 14B 3p21.2 prostatitis
ABHD16A abhydrolase domain containing 16A 6p21.33 coronary artery aneurysm,  meningioma,  systemic lupus erythematosus,  lupus erythematosus,  rheumatoid arthritis,  arthritis leukemia Show all 7
ABHD5 abhydrolase domain containing 5 3p21.33 neutral lipid storage disease,  vesiculitis,  lipid storage disease,  ectropion,  congenital ichthyosiform erythroderma,  n syndrome,  ichthyosis,  myopathy,  cataract,  liver cirrhosis,  obesity,  hepatitis neuronitis Show all 13
ABHD6 abhydrolase domain containing 6 3p14.3 afferent loop syndrome,  pancreatic steatorrhea,  cholesterol ester storage disease,  infant botulism,  wolman disease,  pityriasis versicolor,  choledochal cyst,  botulism,  acinar cell carcinoma,  panniculitis,  gallbladder disease,  steatorrhea,  intestinal obstruction,  familial hyperlipidemia,  exocrine pancreatic insufficiency,  alcohol abuse,  diarrhea,  hypercholesterolemia,  alcoholism,  cystic fibrosis pancreatitis Show all 21
ABHD8 abhydrolase domain containing 8 19p13.11 breast cancer
ABI1 abl-interactor 1 10p12.1 human granulocytic anaplasmosis,  cblc,  acute myeloid leukemia,  colon cancer,  myeloid leukemia,  acute monocytic leukemia,  monocytic leukemia,  noma,  melanoma,  leukemia,  breast cancer,  acute leukemia,  macular degeneration,  ataxia,  gastric cancer,  alzheimers disease,  hepatocellular carcinoma neuronitis Show all 18
ABI2 abl-interactor 2 2q33.2 primary pulmonary hypertension,  dental caries,  leiomyoma,  hypertension,  acute myeloid leukemia,  atherosclerosis,  myeloid leukemia,  schizophrenia leukemia Show all 9
ABI3 ABI family, member 3 17q21.32 chronic lymphocytic leukemia,  acute myeloid leukemia,  myeloid leukemia leukemia
ABI3BP ABI family, member 3 (NESH) binding protein 3q12.2 mood disorder,  lung cancer thyroiditis
ABL1 c-abl oncogene 1, non-receptor tyrosine kinase 9q34.12 chronic myeloid leukemia,  acute lymphocytic leukemia,  philadelphia-negative chronic myeloid leukemia,  bone marrow cancer,  acute biphenotypic leukemia,  leukemia,  alexia,  myeloid leukemia,  chronic myeloproliferative disease,  hypereosinophilic syndrome,  gastrointestinal stromal tumor,  lymphosarcoma,  uterine sarcoma,  dermatofibrosarcoma,  dermatofibrosarcoma protuberans,  lymphoblastic leukemia,  rhabdoid tumor,  essential thrombocythemia,  peripheral t-cell lymphoma,  ataxia telangiectasia,  polycythemia vera,  werner syndrome,  cblc,  chondrosarcoma,  shigellosis,  burkitts lymphoma,  polycythemia,  thyroid cancer,  acute lymphoblastic leukemia,  myelodysplastic syndromes,  eosinophilia,  wilms tumor,  lissencephaly,  monocytic leukemia,  rheumatic disease,  hematopoietic stem cell transplantation,  severe combined immunodeficiency,  was-related disorders,  sporadic breast cancer,  wiskott-aldrich syndrome,  acute leukemia,  retinoblastoma,  myocarditis,  hepatoblastoma,  ataxia,  vaccinia,  transitional cell carcinoma,  anemia,  glioblastoma,  fanconis anemia,  melanoma,  esophageal adenocarcinoma,  endometrial carcinoma,  prostatitis,  breast cancer,  acute myeloid leukemia,  oral squamous cell carcinoma,  hodgkins lymphoma,  non-hodgkin lymphoma,  peritonitis,  alzheimers disease,  multiple myeloma,  thyroiditis,  t-cell leukemia,  myeloma,  chronic lymphocytic leukemia,  ovarian cancer,  pneumonia,  parkinsons disease,  sarcoma,  prostate cancer,  squamous cell carcinoma,  colon cancer,  esophagitis,  endotheliitis,  pancreatic cancer,  tuberculosis,  lung cancer,  colorectal cancer,  adenocarcinoma,  pancreatitis,  hepatitis neuronitis Show all 83
ABL2 c-abl oncogene 2, non-receptor tyrosine kinase 1q25.2 leukemia,  eosinophilia,  thymoma,  gastric adenocarcinoma,  myocarditis,  non-small cell lung carcinoma,  allergic rhinitis,  chronic myeloid leukemia,  rhinitis,  colorectal cancer,  myeloid leukemia,  adenoma,  adenocarcinoma,  lung cancer,  melanoma,  endotheliitis,  breast cancer neuronitis Show all 18
ABLIM1 actin binding LIM protein 1 10q25.3 corneal neovascularization,  alcohol dependence,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma,  alcoholism alzheimers disease Show all 6
ABLIM2 actin binding LIM protein family, member 2 4p16.1 hepatoblastoma,  pancreatic cancer pancreatitis
ABLIM3 actin binding LIM protein family, member 3 5q32 hepatoblastoma
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 9q34.2 blood group incompatibility,  exostosis,  hiv/aids,  plasmodium falciparum malaria,  nail-patella syndrome,  smallpox,  calcinosis,  atrophic gastritis,  von willebrands disease,  cholera,  venous thromboembolism,  congenital muscular dystrophy,  peptic ulcer,  gastritis,  thromboembolism,  gigantism,  duodenal ulcer,  acne,  hematopoietic stem cell transplantation,  malaria,  fatty liver disease,  thrombocytopenia,  cystic fibrosis,  eclampsia,  pre-eclampsia,  oral cancer,  liver cirrhosis,  chronic myeloid leukemia,  muscular dystrophy,  liver disease,  myeloid leukemia,  thrombosis,  graves disease,  duodenitis,  acute leukemia,  oral squamous cell carcinoma,  gastric cancer,  pancreatic cancer,  myocardial infarction,  atherosclerosis,  asthma,  myeloma,  squamous cell carcinoma,  alcoholism,  pancreatitis,  leukemia,  cerebritis,  colorectal cancer breast cancer Show all 49
ABR active BCR-related 17p13.3 placenta praevia,  enamel erosion,  miller-dieker syndrome,  lissencephaly,  medulloblastoma,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma gastric cancer Show all 8
ABRA actin-binding Rho activating protein 8q23.1 granulomatous angiitis,  retinal drusen,  mediastinitis,  cerebral amyloid angiopathy,  malaria,  cerebritis retinitis Show all 7
ABT1 activator of basal transcription 1 6p22.2 neuronal intranuclear inclusion disease,  roberts syndrome,  essential thrombocythemia,  rabies,  spinocerebellar ataxia,  ataxia,  cholera,  hodgkins lymphoma,  non-hodgkin lymphoma,  cytochrome p450,  systemic lupus erythematosus,  t-cell leukemia,  lupus erythematosus,  alzheimers disease,  lung cancer,  neuronitis leukemia Show all 17
ACAA1 acetyl-CoA acyltransferase 1 3p22.2 thiolase deficiency,  beta-ketothiolase deficiency,  ketothiolase deficiency,  zellweger syndrome ,  end stage renal failure,  refsum disease,  rhizomelic chondrodysplasia punctata,  infantile refsum disease,  peroxisome biogenesis disorders,  chondrodysplasia,  adrenoleukodystrophy,  dermatomyositis,  meningioma,  chronic lymphocytic leukemia,  hypoxia,  tuberculosis,  asthma,  prostate cancer,  leukemia prostatitis Show all 20
ACAA2 acetyl-CoA acyltransferase 2 18q21.1 akinetic mutism,  ketothiolase deficiency,  beta-ketothiolase deficiency,  mutism,  rhizomelic chondrodysplasia punctata,  zellweger syndrome ,  chondrodysplasia,  adrenoleukodystrophy tuberculosis Show all 9
ACACA acetyl-CoA carboxylase alpha 17q12 multiple carboxylase deficiency,  hypobetalipoproteinemia,  uremia,  liposarcoma,  fatty liver disease,  breast cancer susceptibility,  insulin resistance,  obesity,  liver disease,  ischemia,  breast cancer,  myopathy,  ovarian cancer,  colon cancer,  alcoholism,  tuberculosis,  endotheliitis,  hypoxia,  thyroiditis,  prostate cancer,  pancreatitis,  prostatitis,  hepatitis neuronitis Show all 24
ACACB acetyl-CoA carboxylase beta 12q24.11 fatty liver disease,  proteinuria,  anorexia nervosa,  insulin resistance,  liver disease,  obesity,  alcoholism,  pancreatic cancer,  hypoxia,  pancreatitis,  prostate cancer prostatitis Show all 12
ACAD10 acyl-CoA dehydrogenase family, member 10 12q24.12 sporadic breast cancer,  esophageal squamous cell carcinoma,  insulin resistance,  esophagitis,  squamous cell carcinoma,  tuberculosis breast cancer Show all 7
ACAD11 acyl-CoA dehydrogenase family, member 11 3q22.1 meningioma,  tuberculosis,  neuroblastoma,  hepatitis b,  hepatitis leukemia Show all 6
ACAD8 acyl-CoA dehydrogenase family, member 8 11q25 isobutyryl-coa dehydrogenase deficiency ,  dilated cardiomyopathy,  tuberculosis,  alzheimers disease anemia
ACAD9 acyl-CoA dehydrogenase family, member 9 3q21.3 acyl-coa dehydrogenase 9 deficiency,  mitochondrial complex i deficiency tuberculosis
ACADL acyl-CoA dehydrogenase, long chain 2q34 lcad deficiency,  very long-chain acyl-coenzyme a dehydrogenase deficiency,  hypoglycemia,  fatty acid oxidation disorders,  fatty liver disease,  sudden infant death syndrome,  hypotonia,  liver disease,  myopathy,  tuberculosis pancreatitis Show all 11
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1p31.1 alcoholic cardiomyopathy,  medium-chain acyl-coenzyme a dehydrogenase deficiency,  fatty acid oxidation disorders,  fasting hypoglycemia,  reye syndrome,  very long-chain acyl-coenzyme a dehydrogenase deficiency,  multiple carboxylase deficiency,  short-chain acyl-coa dehydrogenase deficiency,  galactosemia,  sudden infant death syndrome,  hypoglycemia,  phenylketonuria,  congenital hypothyroidism,  acute liver failure,  hypothyroidism,  autosomal recessive disease,  metabolic disorders,  hepatitis,  intellectual disability,  fatty liver disease,  cystic fibrosis,  liver disease,  alcoholism,  obesity,  cerebritis,  tuberculosis,  hypertension hypoxia Show all 28
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 12q24.31 carotid artery dissection,  short-chain acyl-coa dehydrogenase deficiency,  ethylmalonic encephalopathy,  infantile hypotonia,  diverticulitis,  isovaleric acidemia,  3-methylcrotonyl-coa carboxylase deficiency,  hyperargininemia,  fatty acid oxidation disorders,  hypotonia,  sudden infant death syndrome,  axonal neuropathy,  malignant hyperthermia,  metabolic disorders,  ophthalmoplegia,  ehlers-danlos syndrome,  mitochondrial disorders,  autoimmune thyroiditis,  vitiligo,  myopathy,  prader-willi syndrome,  hypoglycemia,  hepatoblastoma,  ulcerative colitis,  neuropathy,  alcoholism,  tuberculosis,  obesity,  diabetes mellitus,  thyroiditis,  cerebritis hepatitis Show all 32
ACADSB acyl-CoA dehydrogenase, short/branched chain 10q26.13 "acyl-coa dehydrogenase, short/branched chain deficiency",  isovaleric acidemia,  ketothiolase deficiency,  beta-ketothiolase deficiency,  propionic acidemia,  mental retardation,  tuberculosis,  hypertension alzheimers disease Show all 9
ACADVL acyl-CoA dehydrogenase, very long chain 17p13.1 very long-chain acyl-coenzyme a dehydrogenase deficiency,  pericardial effusion,  myoglobinuria recurrent,  fatty acid oxidation disorders,  vitamin b12 deficiency,  3-hydroxyacyl-coa dehydrogenase deficiency,  hyperargininemia,  sudden infant death syndrome,  autosomal recessive disease,  cervical squamous cell carcinoma,  hypoglycemia,  respiratory failure,  hypertrophic cardiomyopathy,  metabolic disorders,  myopathy,  cervicitis,  squamous cell carcinoma tuberculosis Show all 18
ACAN aggrecan 15q26.1 osteochondritis dissecans,  "spondyloepimetaphyseal dysplasia, aggrecan type",  "spondyloepiphyseal dysplasia, kimberley type",  skeletal dysplasias,  lumbar disc herniation,  degenerative disc disease,  osteochondrosis,  odontogenic myxoma,  multiple epiphyseal dysplasia,  exotropia,  pseudoachondroplasia,  spinal stenosis,  achondroplasia,  exostosis,  dwarfism,  spondylitis,  progeria,  short stature,  synovitis,  osteoarthritis,  scoliosis,  pleomorphic adenoma,  brachydactyly,  chondrosarcoma,  arthropathy,  chondrodysplasia,  morquio syndrome b,  laryngitis,  neurologic diseases,  tuberous sclerosis,  laryngeal squamous cell carcinoma,  ankylosing spondylitis,  arthritis,  rheumatoid arthritis,  adenoma,  hypoxia,  squamous cell carcinoma,  cerebritis,  cervicitis,  schizophrenia,  endotheliitis neuronitis Show all 42
ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 17p13.1 pituitary adenoma adenoma
ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 3q29 cowpox,  vaccinia,  kaposis sarcoma sarcoma
ACAT1 acetyl-CoA acetyltransferase 1 11q22.3 beta-ketothiolase deficiency,  ketothiolase deficiency,  thiolase deficiency,  lipid metabolism disorder,  the organic acidemias: an,  sitosterolemia,  organic acidemia,  metabolic disorders,  ataxia telangiectasia,  metabolic acidosis,  spinal muscular atrophy,  muscular atrophy,  hypertriglyceridemia,  ataxia,  hypercholesterolemia,  dementia,  cervical cancer,  mental retardation,  tuberculosis,  cervicitis,  hypertension,  alzheimers disease,  gastric cancer,  breast cancer neuronitis Show all 25
ACAT2 acetyl-CoA acetyltransferase 2 6q25.3 thiolase deficiency,  ketothiolase deficiency,  beta-ketothiolase deficiency,  hypercholesterolemia,  coronary heart disease,  down syndrome,  kidney disease,  dementia,  insulin resistance,  renal cell carcinoma,  ulcerative colitis,  mental retardation,  obesity,  atherosclerosis,  hypertension,  tuberculosis,  lung cancer hepatitis Show all 18
ACBD3 acyl-CoA binding domain containing 3 1q42.12 carney complex neuronitis
ACBD4 acyl-CoA binding domain containing 4 17q21.31 hepatoblastoma
ACBD5 acyl-CoA binding domain containing 5 10p12.1 thrombocytopenia alzheimers disease
ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 11p11.2 adenoid cystic carcinoma,  pancreatic acinar cell adenocarcinoma,  cutaneous adenocystic carcinoma,  lung adenoid cystic carcinoma,  tracheal cancer,  adrenocortical carcinoma,  esophageal adenocarcinoma,  adenoiditis,  hypoxia,  adenocarcinoma,  pancreatitis esophagitis Show all 12
ACD adrenocortical dysplasia homolog (mouse) 16q22.1 hydronephrosis,  cerebrovascular disease,  laryngitis leukemia
ACE angiotensin I converting enzyme 17q23.3 cardiovascular disease risk factor ),  fluid and electrolyte balance,  neurosarcoidosis,  microvascular complications of diabetes 3 ,  "renal tubular dysgenesis, ace-related",  hypertension,  sarcoidosis,  hyporeninemic hypoaldosteronism,  granulomatous dermatitis,  moderate and severe traumatic brain injury,  nephrosclerosis,  posterior urethral valves,  posterior urethral valve,  hepatoportal sclerosis,  hypertensive retinopathy,  arterial calcification of infancy,  left ventricular outflow tract obstruction,  kanzaki disease,  vascular disease,  renovascular hypertension,  aspiration pneumonia,  intestinal tuberculosis,  hypoaldosteronism,  generalized arterial calcification of infancy,  mitral valve insufficiency,  renal tubular dysgenesis,  syndrome of inappropriate antidiuretic hormone,  marek disease,  cough variant asthma,  "polycystic kidney disease, type 1",  renal vascular disease,  renal hypertension,  cerebral atherosclerosis,  novelty seeking personality,  mitral valve disease,  anuria,  alcoholic cardiomyopathy,  congestive heart failure,  acute myocardial infarction,  angioedema,  peripheral vascular disease,  hypertensive heart disease,  focal glomerulosclerosis,  speech disorder,  tropical calcific pancreatitis ,  diastolic heart failure,  urinary tract obstruction,  eisenmenger syndrome,  systolic heart failure,  iga glomerulonephritis,  intermediate coronary syndrome,  subacute cutaneous lupus erythematosus,  essential hypertension,  proteinuria,  exophthalmos,  acute myocarditis,  malignant hypertension,  fibromuscular dysplasia,  ischemic heart disease,  aortic coarctation,  coronary restenosis,  cardiac sarcoidosis,  transposition of the great arteries,  normal pressure hydrocephalus,  arteriosclerosis obliterans,  hepatorenal syndrome,  acute mountain sickness,  ischemic optic neuropathy,  aneurysm disease,  hypokalemia,  hyperaldosteronism,  hypoalphalipoproteinemias,  myocardial infarction,  carotid artery disease,  scleroderma,  "diabetes, type 2",  interstitial nephritis,  retinal artery occlusion,  nephrotic syndrome,  steroid-resistant nephrotic syndrome,  obstructive lung disease,  aortic atherosclerosis,  cerebrovascular disease,  cor pulmonale,  histoplasmosis,  chronic thromboembolic pulmonary hypertension,  critical limb ischemia,  diabetic retinopathy,  arrhythmogenic right ventricular dysplasia,  oligohydramnios,  acute pyelonephritis,  coronary stenosis,  onchocerciasis,  cystinosis,  migraine with aura,  eosinophilic pneumonia,  psychotic disorder,  urethritis,  arterial occlusive disease,  thoracic aortic aneurysm,  membranous glomerulonephritis,  spondylarthropathy,  pemphigus foliaceus,  otosclerosis,  intermittent claudication,  coronary heart disease,  complex regional pain syndrome,  mitral valve prolapse,  carotid stenosis,  hydrocephalus,  breast cyst,  adult respiratory distress syndrome,  glomerulonephritis,  vesicoureteral reflux,  pneumothorax,  nephrosis,  pancytopenia,  syncope,  cutaneous lupus erythematosus,  hypertrophic cardiomyopathy,  end stage renal failure,  chromophobe renal cell carcinoma,  pulmonary edema,  retinal vein occlusion,  focal segmental glomerulosclerosis,  varicocele,  rheumatic fever,  familial hypertrophic cardiomyopathy,  subacute sclerosing panencephalitis,  myocarditis,  food allergy,  pyelonephritis,  atherosclerosis,  cerebral amyloid angiopathy,  endometritis,  sleep disorder,  fabry disease,  type 1 diabetes,  hypercholesterolemia,  systemic scleroderma,  ovarian hyperstimulation syndrome,  vascular dementia,  retinopathy of prematurity,  arteriosclerosis,  pneumonia,  tardive dyskinesia,  deep vein thrombosis,  nephritis,  allergic contact dermatitis,  pulmonary embolism,  silicosis,  aortic valve stenosis,  gingival overgrowth,  contact dermatitis,  atrophic gastritis,  paine syndrome,  pulmonary sarcoidosis,  primary pulmonary hypertension,  portal hypertension,  dilated cardiomyopathy,  diabetes insipidus,  diabetic neuropathy,  thrombophilia,  diabetes mellitus,  familial hypercholesterolemia,  bronchopulmonary dysplasia,  pemphigus,  sleep apnea,  congenital diaphragmatic hernia,  metabolic acidosis,  gauchers disease,  intracranial aneurysm,  kidney disease,  thrombosis,  migraine,  juvenile rheumatoid arthritis,  glucose intolerance,  cerebritis,  proliferative diabetic retinopathy,  osteonecrosis,  polycystic kidney disease,  cerebral infarction,  type 1 diabetes mellitus,  dermatitis,  aggressive periodontitis,  gingivitis,  hepatitis a,  respiratory failure,  "obesity, association with",  severe acute respiratory syndrome,  venous thromboembolism,  duchenne muscular dystrophy,  cerebral malaria,  headache,  polycythemia vera,  sickle cell anemia,  bronchitis,  thromboembolism,  hepatopulmonary syndrome,  open-angle glaucoma,  acromegaly,  panic disorder,  hyperhomocysteinemia,  familial mediterranean fever,  primary open angle glaucoma,  hernia,  polycythemia,  cerebrovascular accident,  wegeners granulomatosis,  hemochromatosis,  interstitial lung disease,  urticaria,  gastritis,  uremia,  abdominal aortic aneurysm,  lupus nephritis,  insulin resistance,  connective tissue disease,  hypoglycemia,  glaucoma,  neuropathy,  paraplegia,  hypertriglyceridemia,  eosinophilia,  traumatic brain injury,  polyneuropathy,  trypanosomiasis,  vitiligo,  psoriatic arthritis,  myasthenia gravis,  kawasaki disease,  gestational diabetes,  obesity,  aortic aneurysm,  brain injury,  sickle cell disease,  myotonic dystrophy,  ischemia,  uveitis,  major depressive disorder,  pulmonary tuberculosis,  morbid obesity,  peripheral neuropathy,  idiopathic pulmonary fibrosis,  behcets disease,  familial adenomatous polyposis,  pulmonary fibrosis,  mood disorder,  temporal lobe epilepsy,  cutaneous t cell lymphoma,  chagas disease,  acute pancreatitis,  epididymitis,  male infertility,  blindness,  alcoholism,  atopy,  age related macular degeneration,  cholestasis,  chronic obstructive pulmonary disease,  fatty liver disease,  malaria,  ankylosing spondylitis,  purpura,  macular degeneration,  dementia,  allergic rhinitis,  pancreatic ductal adenocarcinoma,  hypothyroidism,  spondylitis,  brain disease,  alzheimers disease,  tuberculosis,  infertility,  renal cell carcinoma,  conjunctivitis,  diarrhea,  periodontitis,  rhinitis,  alcohol dependence,  asthma,  polycystic ovary syndrome,  liver cirrhosis,  pre-eclampsia,  graves disease,  metabolic disorders,  sinusitis,  lupus erythematosus,  eclampsia,  retinitis,  cataract,  leiomyoma,  muscular dystrophy,  pancreatitis,  anemia,  hyperglycemia,  pheochromocytoma,  endotheliitis,  oral cancer,  arthritis,  liver disease,  fanconis anemia,  osteoarthritis,  choroiditis,  bipolar disorder,  peritonitis,  endometriosis,  hepatitis,  ulcerative colitis,  rheumatoid arthritis,  psoriasis,  cystic fibrosis,  inflammatory bowel disease,  crohns disease,  systemic lupus erythematosus,  acute myeloid leukemia,  parkinsons disease,  multiple sclerosis,  hepatitis c,  myeloid leukemia,  gastric cancer,  cervicitis,  hepatitis b,  esophagitis,  pancreatic cancer,  hypoxia,  schizophrenia,  adenocarcinoma,  squamous cell carcinoma,  hepatocellular carcinoma,  colorectal cancer,  lung cancer,  leukemia,  prostate cancer,  prostatitis,  breast cancer neuronitis Show all 337
ACE2 angiotensin I converting enzyme 2 Xp22.2 neurogenic hypertension,  posterior urethral valves,  posterior urethral valve,  tetanus neonatorum,  hartnup disease,  severe acute respiratory syndrome,  intracranial aneurysm,  urethritis,  cerebral malaria,  hypertension,  aortic valve stenosis,  tetanus,  essential hypertension,  nephrosclerosis,  chagas disease,  congestive heart failure,  pancreatic ductal adenocarcinoma,  type 1 diabetes mellitus,  hypertrophic cardiomyopathy,  type 1 diabetes,  proteinuria,  malaria,  scleroderma,  vascular disease,  acne,  coronary heart disease,  sarcoidosis,  liver disease,  diabetes mellitus,  kidney disease,  myocardial infarction,  colon adenocarcinoma,  cerebritis,  multiple sclerosis,  atherosclerosis,  hypoxia,  endotheliitis,  adenocarcinoma,  pancreatitis lung cancer Show all 40
ACER1 alkaline ceramidase 1 19p13.3 farber lipogranulomatosis lipogranulomatosis
ACER2 alkaline ceramidase 2 9p22.1 farber lipogranulomatosis ,  lipogranulomatosis,  retinal degeneration retinitis
ACER3 alkaline ceramidase 3 11q13.5 farber lipogranulomatosis ,  lipogranulomatosis,  partial fetal alcohol syndrome,  cortical blindness,  fetal alcohol syndrome,  blindness alcoholism Show all 7
ACF Asymmetric crying facies (Cayler cardiofacial syndrome) 22q11 cayler cardiofacial syndrome alzheimers disease
ACHE acetylcholinesterase 7q22.1 gastroschisis,  aplasia cutis congenita,  colonic pseudo-obstruction,  diastematomyelia,  vascular dementia,  endplate acetylcholinesterase deficiency,  myasthenia gravis,  wernicke-korsakoff syndrome,  postural hypotension,  rem sleep behavior disorder,  omphalocele,  achalasia,  intestinal pseudo-obstruction,  abdominal wall defect,  epidermolysis bullosa with pyloric atresia,  orthostatic intolerance,  lewy body dementia,  anencephaly,  hypermethioninemia,  glaucoma,  junctional epidermolysis bullosa,  hemoglobinuria,  dementia,  cerebrovascular disease,  megacolon,  congenital myasthenic syndrome,  hirschsprungs disease,  frontotemporal dementia,  intestinal obstruction,  epidermolysis bullosa,  spina bifida,  syncope,  nephrosis,  chronic pain,  neural tube defects,  paroxysmal nocturnal hemoglobinuria,  head injury,  alzheimers disease,  vesiculitis,  congenital hypothyroidism,  progressive supranuclear palsy,  dyspepsia,  tardive dyskinesia,  paralysis,  cocaine dependence,  chorea,  picks disease,  pemphigus vulgaris,  phenylketonuria,  constipation,  polyneuropathy,  fainting,  status epilepticus,  lymphopenia,  pemphigus,  tetanus,  huntingtons disease,  traumatic brain injury,  hydrocephalus,  respiratory failure,  growth hormone deficiency,  brain disease,  parkinsons disease,  schizophrenia,  bullous pemphigoid,  hypothyroidism,  brain injury,  cholera,  down syndrome,  pharyngitis,  neurologic diseases,  cerebellar ataxia,  thymoma,  vitiligo,  albinism,  was-related disorders,  sporadic breast cancer,  skin disease,  malaria,  metabolic disorders,  lateral sclerosis,  amyotrophic lateral sclerosis,  blindness,  diarrhea,  alcohol dependence,  graves disease,  colon adenocarcinoma,  anorexia nervosa,  sinusitis,  hiv type 1,  eclampsia,  pre-eclampsia,  cytochrome p450,  lung cancer,  osteosarcoma,  myelodysplastic syndromes,  gingivitis,  muscular dystrophy,  neuronitis,  neuroblastoma,  alcoholism,  myopathy,  ataxia,  colon cancer,  neuropathy,  psoriasis,  diabetes mellitus,  acute lymphoblastic leukemia,  lymphoblastic leukemia,  cerebritis,  multiple sclerosis,  ischemia,  obesity,  renal cell carcinoma,  hypertension,  retinitis,  esophagitis,  leukemia,  adenocarcinoma,  pancreatic cancer,  breast cancer,  ovarian cancer,  hepatocellular carcinoma,  thyroiditis,  prostatitis,  pancreatitis,  prostate cancer endotheliitis Show all 128
ACIN1 apoptotic chromatin condensation inducer 1 14q11.2 breast adenomyoepithelioma,  sialolithiasis,  tick paralysis,  acne,  congenital diaphragmatic hernia,  hernia,  paralysis,  gastric adenocarcinoma,  cholestasis,  lung adenocarcinoma,  colon adenocarcinoma,  adenocarcinoma,  prostate cancer,  prostatitis leukemia Show all 15
ACLS acrocallosal syndrome 12p13.3-p11.2 gli3-related disorders,  pallister-hall syndrome,  postaxial polydactyly type a,  greig cephalopolysyndactyly syndrome ,  "hypothalamic hamartomas, somatic",  polydactyly preaxial type 4,  acrocallosal syndrome ,  hypothalamic hamartomas polydactyly Show all 9
ACLY ATP citrate lyase 17q21.2 type 1 diabetes mellitus,  type 1 diabetes,  diabetes mellitus,  obesity,  glioblastoma,  schizophrenia,  hepatocellular carcinoma,  thyroiditis,  ovarian cancer,  lung cancer,  prostate cancer,  pancreatitis,  prostatitis,  hepatitis neuronitis Show all 15
ACMSD aminocarboxymuconate semialdehyde decarboxylase 2q21.3 parkinsons disease,  neuronitis hepatitis
ACN9 ACN9 homolog (S. cerevisiae) 7q21.3 acne,  alcohol dependence alcoholism
ACO1 aconitase 1, soluble 9p21.1 x-linked sideroblastic anemia with ataxia,  hyperferritinemia cataract syndrome,  x-linked sideroblastic anemia,  sideroblastic anemia,  microcytic anemia,  iron deficiency anemia,  friedreich ataxia,  hemochromatosis,  restless legs syndrome,  acne,  beta thalassemia,  thalassemia,  sickle cell disease,  anemia,  ataxia,  cataract,  hepatoblastoma,  duodenitis,  parkinsons disease,  age related macular degeneration,  hypoxia,  macular degeneration,  alcoholism,  asthma,  tuberculosis,  alzheimers disease,  melanoma neuronitis Show all 28
ACO2 aconitase 2, mitochondrial 22q13.2 infantile cerebellar-retinal degeneration,  athetosis,  cerebellar degeneration,  friedreich ataxia,  endocarditis,  optic atrophy,  retinal degeneration,  hypotonia,  down syndrome,  ataxia,  retinitis,  cystic fibrosis,  obesity,  schizophrenia,  tuberculosis,  alzheimers disease,  colorectal cancer,  cerebritis,  lung cancer prostatitis Show all 20
ACOT1 acyl-CoA thioesterase 1 14q24.3 human immunodeficiency virus infectious disease epididymitis
ACOT11 acyl-CoA thioesterase 11 1p32.3 tinea unguium,  obesity strabismus
ACOT12 acyl-CoA thioesterase 12 5q14.1 pericarditis,  cleft palate cleft lip
ACOT13 acyl-CoA thioesterase 13 6p22.3 larynx verrucous carcinoma,  diphyllobothriasis,  verrucous carcinoma,  dyslexia breast cancer
ACOT2 acyl-CoA thioesterase 2 14q24.3 alzheimers disease
ACOT4 acyl-CoA thioesterase 4 14q24.3 alzheimers disease
ACOT6 acyl-CoA thioesterase 6 14q24.3 schizophrenia
ACOT7 acyl-CoA thioesterase 7 1p36.31 meckels diverticulum,  temporal lobe epilepsy,  fatty acid oxidation disorders,  kidney disease neuronitis
ACOT8 acyl-CoA thioesterase 8 20q13.12 von economos disease,  hypertensive encephalopathy,  hypertension,  tuberculosis neuronitis
ACOT9 acyl-CoA thioesterase 9 Xp22.11 pancreatic cancer pancreatitis
ACOX1 acyl-CoA oxidase 1, palmitoyl 17q25.1 pseudoneonatal adrenoleukodystrophy,  rhizomelic chondrodysplasia punctata type 1 ,  d-bifunctional protein deficiency,  anoxia,  adrenoleukodystrophy,  rhizomelic chondrodysplasia punctata,  peroxisomal disease,  protein s deficiency,  peroxisome biogenesis disorders,  chondrodysplasia,  zellweger syndrome ,  peroxisome disorders,  refsum disease,  leukodystrophy,  fatty liver disease,  hepatoblastoma,  liver disease,  cytochrome p450,  retinoblastoma,  mental retardation,  glioblastoma,  alcoholism,  retinitis,  hepatocellular carcinoma,  hepatitis breast cancer Show all 26
ACOX2 acyl-CoA oxidase 2, branched chain 3p14.3 pseudoneonatal adrenoleukodystrophy,  zellweger syndrome ,  peroxisome disorders,  adrenoleukodystrophy,  hepatoblastoma mental retardation Show all 6
ACOX3 acyl-CoA oxidase 3, pristanoyl 4p16.1 mutism,  zellweger syndrome ,  peroxisome disorders,  narcolepsy,  prostate cancer,  prostatitis leukemia Show all 7
ACOXL acyl-CoA oxidase-like 2q13 chronic lymphocytic leukemia leukemia
ACP1 acid phosphatase 1, soluble 2p25.3 okamoto syndrome,  bubonic plague,  "progressive myoclonus epilepsy, lafora type",  multiple symmetric lipomatosis,  multiple symmetrical lipomatosis,  favism,  tic disorder,  plague,  lafora disease,  amebiasis,  lipomatosis,  polycythemia vera,  centronuclear myopathy,  leopard syndrome,  noonan syndrome,  myoclonus epilepsy,  bilateral breast cancer,  polycythemia,  progressive myoclonus epilepsy,  myoclonus,  blood clots,  japanese encephalitis,  neonatal jaundice,  tuberculosis,  guillain-barre syndrome,  alcoholism,  differentiating neuroblastoma,  alcohol abuse,  angiosarcoma,  alopecia areata,  hyperglycemia,  neurofibromatosis,  diabetes insipidus,  brain ischemia,  pulmonary tuberculosis,  familial adenomatous polyposis,  jaundice,  alopecia,  adenoid cystic carcinoma,  adenoiditis,  insulin resistance,  pharyngitis,  acute promyelocytic leukemia,  arthropathy,  gestational diabetes,  stomatitis,  burkitts lymphoma,  myopathy,  leishmaniasis,  pheochromocytoma,  diabetes mellitus,  squamous cell carcinoma of the head and neck,  autoimmune thyroiditis,  metabolic disorders,  behcets disease,  myeloma,  encephalitis,  neuroblastoma,  celiac disease,  vaccinia,  ischemia,  short stature,  astrocytoma,  multiple sclerosis,  cystic fibrosis,  leiomyoma,  liver cirrhosis,  diffuse large b-cell lymphoma,  obesity,  lupus erythematosus,  type 1 diabetes,  choriocarcinoma,  b-cell lymphomas,  glioblastoma,  malignant glioma,  squamous cell carcinoma,  gingivitis,  colon cancer,  endometriosis,  gastric cancer,  rheumatoid arthritis,  breast cancer,  multiple myeloma,  oral squamous cell carcinoma,  ulcerative colitis,  prostatitis,  peritonitis,  endotheliitis,  periodontitis,  acute leukemia,  retinoblastoma,  psoriasis,  hepatocellular carcinoma,  colorectal cancer,  cerebritis,  arthritis,  leukemia,  hepatitis c,  systemic lupus erythematosus,  prostate cancer,  pneumonia,  ovarian cancer,  myeloid leukemia,  melanoma,  anemia,  atherosclerosis,  thyroiditis,  hypertension,  pancreatic cancer,  sarcoma,  schizophrenia,  cervicitis,  pancreatitis,  lung cancer,  alzheimers disease,  hepatitis neuronitis Show all 117
ACP2 acid phosphatase 2, lysosomal 11p11.2 lysosomal acid phosphatase deficiency ,  progressive supranuclear palsy,  keratoconus,  alcoholism,  hypotonia,  seminoma,  metabolic disorders prostatitis Show all 8
ACP5 acid phosphatase 5, tartrate resistant 19p13.2 bone giant cell tumor,  hairy cell leukemia of spleen,  spondyloenchondrodysplasia,  "osteoporosis, postmenopausal",  pigmented villonodular synovitis,  villonodular synovitis,  hairy cell leukemia,  juvenile rheumatoid arthritis,  camurati-engelmann disease,  renal osteodystrophy,  osteomyelitis,  giant cell tumor,  synovitis,  gauchers disease,  osteonecrosis,  metaphyseal dysplasia,  hyperthyroidism,  pagets disease of bone,  hyperparathyroidism,  hemiplegia,  rickets,  skeletal dysplasias,  osteogenesis imperfecta,  myelofibrosis,  osteopetrosis,  microphthalmia,  alcoholism,  myeloma,  t-cell leukemia,  primary biliary cirrhosis,  osteoarthritis,  osteosarcoma,  rheumatoid arthritis,  multiple myeloma,  basal cell carcinoma,  sinusitis,  arthritis,  gingivitis,  blindness,  spasticity,  acute lymphoblastic leukemia,  kidney disease,  hepatocellular carcinoma,  lymphoblastic leukemia,  diabetes mellitus,  leukemia,  asthma,  obesity,  breast cancer,  cerebritis,  prostatitis,  lung cancer,  melanoma,  prostate cancer endotheliitis Show all 55
ACP6 acid phosphatase 6, lysophosphatidic 1q21.2 atrioventricular septal defect,  tetralogy of fallot,  esophageal squamous cell carcinoma,  esophagitis,  squamous cell carcinoma,  alcoholism,  ovarian cancer prostatitis Show all 8
ACPL2 acid phosphatase-like 2 3q23 alcoholism
ACPP acid phosphatase, prostate 3q22.1 prostate transitional cell carcinoma,  nephrogenic adenoma of the urethra,  urethra cancer,  cloacogenic carcinoma,  prostatic adenoma,  sphenoid sinusitis,  endodermal sinus tumor,  intravascular large b-cell lymphoma,  nephrogenic adenoma,  prostatic hypertrophy,  lymphoepithelioma-like carcinoma,  prostate adenocarcinoma,  varicocele,  phyllode tumor,  prostate disease,  follicular adenoma,  adenomatoid tumor,  prostatitis,  male breast cancer,  histoplasmosis,  mucinous adenocarcinoma,  sinusitis,  root resorption,  breast cyst,  chediak-higashi syndrome,  transitional cell carcinoma,  clear cell adenocarcinoma,  angiosarcoma,  azoospermia,  neuroendocrine carcinoma,  ophthalmoplegia,  small cell carcinoma,  acromegaly,  alcoholism,  gauchers disease,  adenoma,  osteopetrosis,  paine syndrome,  giant cell tumor,  histiocytosis,  adenocarcinoma,  prostate cancer,  seminoma,  epididymitis,  bladder carcinoma,  colon adenocarcinoma,  periodontal disease,  periodontitis,  liver disease,  blindness,  b-cell lymphomas,  breast cancer,  renal cell carcinoma,  cerebritis,  thyroiditis,  lung cancer,  hepatitis,  leukemia,  pancreatitis neuronitis Show all 60
ACPT acid phosphatase, testicular 19q13.33 testicular cancer,  prostate cancer,  prostatitis alcoholism
ACR acrosin 22q13.33 globozoospermia ,  varicocele,  male infertility,  vaginitis,  infertility,  epididymitis endotheliitis Show all 7
ACRBP acrosin binding protein 12p13.31 arteriolosclerosis,  cowpox colon cancer
ACRC acidic repeat containing Xq13.1 appendix adenocarcinoma adenocarcinoma
ACRPS Acropectoral syndrome 7q36 acropectoral syndrome
ACRV1 acrosomal vesicle protein 1 11q24.2 hordeolum,  lemierres syndrome,  frozen shoulder,  silicosis infertility
ACSBG1 acyl-CoA synthetase bubblegum family member 1 15q25.1 adrenoleukodystrophy,  tuberculosis neuronitis
ACSBG2 acyl-CoA synthetase bubblegum family member 2 19p13.3 adrenoleukodystrophy tuberculosis
ACSF2 acyl-CoA synthetase family member 2 17q21.33 tuberculosis
ACSF3 acyl-CoA synthetase family member 3 16q24.3 combined malonic and methylmalonic aciduria,  methylmalonic acidemia,  microcephaly,  hypotonia,  hypoglycemia,  b-cell lymphomas,  tuberculosis hypertension Show all 8
ACSL1 acyl-CoA synthetase long-chain family member 1 4q35.1 very long-chain acyl-coenzyme a dehydrogenase deficiency,  insulin resistance,  obesity,  retinitis hepatitis
ACSL3 acyl-CoA synthetase long-chain family member 3 2q36.1 saethre-chotzen syndrome,  craniosynostosis,  hypertriglyceridemia,  asthma,  prostate cancer,  prostatitis hepatitis Show all 7
ACSL4 acyl-CoA synthetase long-chain family member 4 Xq23 alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis,  alport syndrome,  mental retardation,  "mental retardation, x-linked",  colon adenocarcinoma,  mental disorders,  intellectual disability,  autism spectrum disorder,  hypotonia,  hepatocellular carcinoma,  schizophrenia,  adenocarcinoma,  glomerulonephritis,  insulin resistance,  adenoma,  colon cancer,  prostate cancer,  prostatitis,  hepatitis neuronitis Show all 20
ACSL5 acyl-CoA synthetase long-chain family member 5 10q25.2 malignant glioma,  hypertriglyceridemia,  colorectal cancer,  adenocarcinoma,  adenoma,  alzheimers disease hepatitis Show all 7
ACSL6 acyl-CoA synthetase long-chain family member 6 5q31.1 gestational choriocarcinoma,  eosinophilia,  myelodysplastic syndromes,  polycythemia vera,  premature ovarian failure,  polycythemia,  choriocarcinoma,  leukemia,  schizophrenia,  crohns disease,  hypoxia,  neuronitis prostatitis Show all 13
ACSM1 acyl-CoA synthetase medium-chain family member 1 16p12.3 hypertrophy of breast,  apocrine adenocarcinoma,  essential hypertension,  hypertension,  schizophrenia adenocarcinoma Show all 6
ACSM2B acyl-CoA synthetase medium-chain family member 2B 16p12.3 hepatoblastoma
ACSM3 acyl-CoA synthetase medium-chain family member 3 16p12.3 hypertension,  pterygium,  hypertriglyceridemia,  essential hypertension,  crohns disease,  insulin resistance,  obesity,  ulcerative colitis gastric cancer Show all 9
ACSM5 acyl-CoA synthetase medium-chain family member 5 16p12.3 kidney disease hepatocellular carcinoma
ACSS1 acyl-CoA synthetase short-chain family member 1 20p11.21 kidney disease,  tuberculosis,  hepatocellular carcinoma hepatitis
ACSS2 acyl-CoA synthetase short-chain family member 2 20q11.22 alcoholic hepatitis,  hypercalcemia,  alcoholism,  ischemia,  tuberculosis,  hepatocellular carcinoma hepatitis Show all 7
ACSS3 acyl-CoA synthetase short-chain family member 3 12q21.31 fetal alcohol syndrome alcoholism
ACT actin-like protein (ACT) gene 2q21.1 hepatocellular carcinoma
ACTA1 actin, alpha 1, skeletal muscle 1q42.13 myopathy,  congenital fiber-type disproportion,  listeriosis,  myopathy congenital,  rod myopathy,  "myopathy, actin, congenital, with excess of thin myofilaments",  "myopathy, congenital, with fiber-type disproportion 1",  intranuclear rod myopathy,  acta1-related congenital fiber-type disproportion,  typical nemaline myopathy,  intermediate nemaline myopathy,  childhood restrictive cardiomyopathy,  acta1-related nemaline myopathy,  childhood-onset nemaline myopathy,  severe congenital nemaline myopathy,  cap myopathy,  ruptured thoracic aortic aneurysm,  nance-horan syndrome,  nemaline myopathy,  congenital myotonic dystrophy,  distal arthrogryposis,  intestinal pseudo-obstruction,  respiratory failure,  thoracic aortic aneurysm,  neuromuscular disease,  myotonic dystrophy,  limb-girdle muscular dystrophy,  hypertrophic cardiomyopathy,  shigellosis,  autoimmune hepatitis,  hypotonia,  acute myocardial infarction,  thyroid cancer,  muscular dystrophy,  aortic aneurysm,  vaccinia,  myocardial infarction,  cholera,  dementia,  kaposis sarcoma,  parkinsons disease,  insulin resistance,  atherosclerosis,  thyroiditis,  alzheimers disease,  sarcoma,  squamous cell carcinoma,  melanoma,  hepatitis,  endotheliitis,  leukemia neuronitis Show all 52
ACTA2 actin, alpha 2, smooth muscle, aorta 10q23.31 thoracic aortic aneurysm,  moyamoya disease,  familial hypertension,  multisystemic smooth muscle dysfunction syndrome,  acta2-related thoracic aortic aneurysms and aortic dissections,  moyamoya disease 5,  aortic aneurysm,  thoracic aortic aneurysms and aortic dissections ,  familial thoracic aortic aneurysm and dissection,  aortic disease,  loeys-dietz syndrome,  hemiplegia,  hypertrophic scars,  cerebrovascular disease,  cerebral infarction,  basal cell carcinoma,  rhabdomyosarcoma,  endometriosis,  glomerulonephritis,  ulcerative colitis,  muscular dystrophy,  vascular disease,  cholera,  cerebritis,  osteosarcoma,  renal cell carcinoma,  hypertension,  hepatitis b,  rheumatoid arthritis,  arthritis,  endotheliitis,  alzheimers disease,  hepatitis lung cancer Show all 34
ACTB actin, beta 7p22.1 phaeohyphomycosis,  juvenile-onset dystonia,  baraitser-winter syndrome 1,  baraitser-winter syndrome,  brain malformations,  skeletal dysplasias,  shigellosis,  autoimmune hepatitis,  lissencephaly,  wiskott-aldrich syndrome,  hiv type 1,  myocarditis,  microcephaly,  short stature,  hypertrophic cardiomyopathy,  intellectual disability,  cholera,  non-small cell lung carcinoma,  colon adenocarcinoma,  cataract,  macular degeneration,  vascular disease,  muscular dystrophy,  dilated cardiomyopathy,  gingivitis,  bipolar disorder,  kaposis sarcoma,  myopathy,  huntingtons disease,  influenza,  insulin resistance,  mental retardation,  ischemia,  asthma,  parkinsons disease,  glioblastoma,  multiple sclerosis,  atherosclerosis,  obesity,  hypertension,  colon cancer,  sarcoma,  adenocarcinoma,  hypoxia,  schizophrenia,  retinitis,  hepatocellular carcinoma,  thyroiditis,  melanoma,  alzheimers disease,  hepatitis,  lung cancer,  prostatitis,  prostate cancer,  endotheliitis,  pancreatitis,  breast cancer,  leukemia neuronitis Show all 59
ACTBL2 actin, beta-like 2 5q11.2 keratoconus hepatocellular carcinoma
ACTBP12 actin, beta pseudogene 12 1p22.1 pancreatitis
ACTC1 actin, alpha, cardiac muscle 1 15q14 myoepithelioma,  fasciitis,  pseudoangiomatous stromal hyperplasia,  perivascular epithelioid cell tumor,  cystic nephroma,  cutaneous leiomyosarcoma,  benign schwannoma,  scleromyxedema,  myofibroma,  non-langerhans-cell histiocytosis,  malignant giant cell tumor of soft parts,  malignant giant cell tumor,  glomangiomyoma,  bizarre leiomyoma,  left ventricular noncompaction 4 ,  atrial septal defect 5 ,  "cardiomyopathy, familial hypertrophic, 11",  myxoid leiomyosarcoma,  calcified aponeurotic fibroma,  disseminated peritoneal leiomyomatosis,  actc1-related familial hypertrophic cardiomyopathy,  actc1-related dilated cardiomyopathy,  leiomyosarcoma,  giant cell tumor,  atypical teratoid rhabdoid tumor,  smooth muscle tumor,  inflammatory myofibroblastic tumor,  mature teratoma,  spindle cell carcinoma,  benign metastasizing leiomyoma,  endometrial stromal sarcoma,  solitary fibrous tumor,  adenosarcoma,  intravenous leiomyomatosis,  epithelioid leiomyosarcoma,  syringocystadenoma papilliferum,  botryoid rhabdomyosarcoma,  glomangioma,  sarcomatoid renal cell carcinoma,  ossifying fibromyxoid tumor,  spindle cell lipoma,  anaplastic ganglioglioma,  infantile myofibromatosis,  ovarian fibrothecoma,  atrial septal defect-2,  hemangioma,  rhabdoid tumor,  glomus tumor,  chickenpox,  granulosa cell tumor of the ovary,  spiradenoma,  mucinous cystadenocarcinoma,  sarcomatoid mesothelioma,  desmoid tumor,  pulmonary vein stenosis,  angiocentric glioma,  leiomyoma,  ductal carcinoma in situ,  juvenile nasopharyngeal angiofibroma,  dermatofibrosarcoma,  teratoma,  cavernous hemangioma,  sclerosing hemangioma,  pyogenic granuloma,  follicular dendritic cell tumor,  horseshoe kidney,  binswangers disease,  gastrointestinal stromal tumor,  dermatofibrosarcoma protuberans,  angiosarcoma,  sweat gland carcinoma,  left ventricular noncompaction,  mesenchymal chondrosarcoma,  pancreas adenocarcinoma,  histiocytoma,  langerhans-cell histiocytosis,  dedifferentiated liposarcoma,  familial hypertrophic cardiomyopathy,  pulmonary sclerosing hemangioma,  multiple endocrine neoplasia type 2a,  dilated cardiomyopathy,  angiomyolipoma,  inverted papilloma,  hemangiopericytoma,  carney triad,  clear cell sarcoma,  adenoiditis,  papilloma,  lymphangioma,  leiomyomatosis,  ganglioglioma,  cystic teratoma,  somatostatinoma,  desmoplastic small round cell tumor,  fibrous histiocytoma,  histiocytosis,  refractive error,  vulvovaginitis,  lymphangioleiomyomatosis,  phyllode tumor,  nemaline myopathy,  lipomatosis,  hypertrophic cardiomyopathy,  gliosarcoma,  polymorphous low-grade adenocarcinoma,  fibromatosis,  nephrosis,  adenoid cystic carcinoma,  klebsiella,  adenomyosis,  pneumothorax,  lipoma,  pleomorphic adenoma,  nonalcoholic steatohepatitis,  endocervicitis,  malignant peripheral nerve sheath tumor,  fibrosarcoma,  mucoepidermoid carcinoma,  benign tumors,  multiple endocrine neoplasia,  cystadenocarcinoma,  nephroblastoma,  cystadenoma,  myopia,  rhabdomyosarcoma,  synovial sarcoma,  neurofibroma,  breast disease,  paraganglioma,  chondrosarcoma,  mastocytosis,  tuberous sclerosis,  microphthalmia,  syncope,  multiple system atrophy,  papillary carcinoma,  viral hepatitis,  idiopathic pulmonary fibrosis,  medulloblastoma,  endometriosis,  liposarcoma,  endocarditis,  wilms tumor,  basal cell carcinoma,  pulmonary fibrosis,  oligodendroglioma,  neurofibromatosis,  fatty liver disease,  vaginitis,  sarcoma,  wiskott-aldrich syndrome,  renal cell carcinoma,  gastric adenocarcinoma,  peritonitis,  myopathy,  congestive heart failure,  adenoma,  sinusitis,  diffuse large b-cell lymphoma,  liver cirrhosis,  adenocarcinoma,  pertussis,  liver disease,  kaposis sarcoma,  b-cell lymphomas,  thyroid cancer,  choroiditis,  gingivitis,  vaccinia,  down syndrome,  nasopharyngitis,  hepatitis,  meningioma,  kidney disease,  myocardial infarction,  melanoma,  pneumonia,  hepatitis c,  anemia,  thyroiditis,  cerebritis,  hepatitis b,  esophagitis,  endotheliitis,  hypoxia,  hepatocellular carcinoma,  alzheimers disease,  prostatitis,  breast cancer pancreatitis Show all 190
ACTG1 actin, gamma 1 17q25.3 "nonsyndromic hearing loss and deafness, autosomal dominant",  baraitser-winter syndrome,  "deafness, autosomal dominant 20/26",  baraitser-winter syndrome 2,  dfna20/26 nonsyndromic hearing loss and deafness,  pneumocystosis,  usher syndrome type i,  glomus tumor,  brain malformations,  usher syndrome,  hemangiopericytoma,  childhood leukemia,  human immunodeficiency virus infectious disease,  shigellosis,  beta thalassemia,  gigantism,  lissencephaly,  thalassemia,  wiskott-aldrich syndrome,  endocarditis,  sensorineural hearing loss,  amyloidosis,  hiv type 1,  myocarditis,  acute pancreatitis,  microcephaly,  pancreatic ductal adenocarcinoma,  short stature,  hypertrophic cardiomyopathy,  cataract,  cholera,  intellectual disability,  vascular disease,  muscular dystrophy,  dilated cardiomyopathy,  kaposis sarcoma,  osteoarthritis,  herpes simplex,  psoriasis,  influenza,  hypertension,  pancreatitis,  sarcoma,  parkinsons disease,  renal cell carcinoma,  alcoholism,  schizophrenia,  rheumatoid arthritis,  tuberculosis,  arthritis,  adenocarcinoma,  retinitis,  hepatocellular carcinoma,  alzheimers disease,  lung cancer,  prostatitis,  prostate cancer,  endotheliitis,  leukemia neuronitis Show all 60
ACTG1P11 actin, gamma 1 pseudogene 11 Yq11.222 pancreatitis
ACTG1P4 actin, gamma 1 pseudogene 4 1p21.1 pancreatitis
ACTG1P6 actin, gamma 1 pseudogene 6 1p21 pancreatitis
ACTG1P7 actin, gamma 1 pseudogene 7 1p21 pancreatitis
ACTG1P8 actin, gamma 1 pseudogene 8 1p21 pancreatitis
ACTG2 actin, gamma 2, smooth muscle, enteric 2p13.1 megaduodenum and/or megacystis,  legg-calve-perthes disease,  peyronies disease,  idiopathic pulmonary fibrosis,  gastrointestinal stromal tumor,  pulmonary fibrosis,  cholestasis,  muscular dystrophy,  cholera,  hypertension,  kaposis sarcoma,  diabetes mellitus,  sarcoma,  hepatocellular carcinoma,  endotheliitis prostatitis Show all 16
ACTL6A actin-like 6A 3q26.33 eaf,  williams syndrome,  fanconis anemia,  cervical cancer,  anemia,  cervicitis,  neuroblastoma,  leukemia neuronitis Show all 9
ACTL6B actin-like 6B 7q22.1 spina bifida,  fanconis anemia,  anemia neuronitis
ACTL7A actin-like 7A 9q31.3 riley-day syndrome,  dysautonomia,  breast cancer susceptibility,  male infertility,  infertility,  hypertension breast cancer Show all 7
ACTL7B actin-like 7B 9q31.3 riley-day syndrome,  dysautonomia,  male infertility,  infertility,  hypertension prostatitis Show all 6
ACTL9 actin-like 9 19p13.2 atopic dermatitis dermatitis
ACTN1 actinin, alpha 1 14q24.1 familial hypertrophic cardiomyopathy,  hypertrophic cardiomyopathy,  lipoma,  sickle cell anemia,  limb-girdle muscular dystrophy,  soft tissue sarcoma,  dilated cardiomyopathy,  wilms tumor,  muscular dystrophy,  macular degeneration,  endometriosis,  lung adenocarcinoma,  astrocytoma,  ataxia,  anemia,  sarcoma,  hepatitis c,  systemic lupus erythematosus,  lupus erythematosus,  neuroblastoma,  colon cancer,  adenocarcinoma,  endotheliitis,  hepatocellular carcinoma,  alzheimers disease,  hepatitis,  prostatitis,  prostate cancer breast cancer Show all 29
ACTN2 actinin, alpha 2 1q43 actn2-related dilated cardiomyopathy,  actn2-related familial hypertrophic cardiomyopathy,  endocardial fibroelastosis,  infantile onset spinocerebellar ataxia,  skeletal muscle regeneration,  familial hypertrophic cardiomyopathy,  dilated cardiomyopathy,  neuromuscular disease,  congenital muscular dystrophy,  spinocerebellar ataxia,  muscular dystrophy,  congestive heart failure,  papillary thyroid carcinoma,  ataxia,  hypertrophic cardiomyopathy,  macular degeneration,  herpes simplex,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma,  myopathy,  thyroiditis,  systemic lupus erythematosus,  lupus erythematosus,  obesity,  neuroblastoma,  schizophrenia,  alzheimers disease,  endotheliitis neuronitis Show all 29
ACTN3 actinin, alpha 3 (gene/pseudogene) 11q13.2 dystrophinopathies,  congenital muscular dystrophy,  muscular dystrophy,  systemic lupus erythematosus,  myopathy,  neuroblastoma,  lupus erythematosus endotheliitis Show all 8
ACTN4 actinin, alpha 4 19q13.2 focal segmental glomerulosclerosis,  focal segmental glomerulosclerosis 2,  nephrosis,  frasier syndrome,  steroid-resistant nephrotic syndrome,  thin basement membrane nephropathy,  proteinuria,  nephrotic syndrome,  crescentic glomerulonephritis,  ovarian clear cell adenocarcinoma,  sickle cell anemia,  clear cell adenocarcinoma,  wilms tumor,  protein s deficiency,  endocarditis,  glomerulonephritis,  esophageal cancer,  macular degeneration,  kidney disease,  oral squamous cell carcinoma,  astrocytoma,  ataxia,  anemia,  type 1 diabetes,  esophagitis,  systemic lupus erythematosus,  lupus erythematosus,  squamous cell carcinoma,  hypoxia,  neuroblastoma,  colon cancer,  alzheimers disease,  ovarian cancer,  endotheliitis,  hepatocellular carcinoma,  adenocarcinoma,  gastric cancer,  prostate cancer,  prostatitis,  breast cancer neuronitis Show all 41
ACTR10 actin-related protein 10 homolog (S. cerevisiae) 14q23.1 intrahepatic cholangiocarcinoma,  cholangiocarcinoma gastric cancer
ACTR1A ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) 10q24.32 malignant pleural mesothelioma,  down syndrome,  lateral sclerosis,  amyotrophic lateral sclerosis neuronitis
ACTR1B ARP1 actin-related protein 1 homolog B, centractin beta (yeast) 2q11.2 neuroblastoma hepatocellular carcinoma
ACTR2 ARP2 actin-related protein 2 homolog (yeast) 2p14 wiskott-aldrich syndrome,  vaccinia,  gastric adenocarcinoma,  adenocarcinoma,  melanoma,  hepatitis,  endotheliitis,  breast cancer neuronitis Show all 9
ACTR3 ARP3 actin-related protein 3 homolog (yeast) 2q14.1 wiskott-aldrich syndrome,  vaccinia,  gastric cancer,  endotheliitis,  breast cancer,  hepatitis neuronitis Show all 7
ACTR3B ARP3 actin-related protein 3 homolog B (yeast) 7q36.1 lung adenocarcinoma,  down syndrome,  adenocarcinoma neuronitis
ACTR3C ARP3 actin-related protein 3 homolog C (yeast) 7q36.1 lung adenoma,  lung adenocarcinoma,  adenoma adenocarcinoma
ACTR5 ARP5 actin-related protein 5 homolog (yeast) 20q11.23 sarcoma
ACTR6 ARP6 actin-related protein 6 homolog (yeast) 12q23.1 polycystic ovary syndrome obesity
ACTR8 ARP8 actin-related protein 8 homolog (yeast) 3p21.1 chronic lymphocytic leukemia leukemia
ACVR1 activin A receptor, type I 2q24.1 fibrodysplasia ossificans progressiva,  osteochondroma,  ankylosis,  primary pulmonary hypertension,  intracranial aneurysm,  congenital heart defect,  pharyngitis,  goiter,  narcolepsy,  polycystic ovary syndrome,  eclampsia,  pre-eclampsia,  acute myocardial infarction,  pituitary adenoma,  pheochromocytoma,  hypertension,  malignant glioma,  myocardial infarction,  pancreatic cancer,  down syndrome,  periodontitis,  adenoma,  ovarian cancer,  pancreatitis,  asthma,  esophagitis,  gastric cancer,  prostate cancer,  colorectal cancer,  thyroiditis,  adenocarcinoma,  endotheliitis,  prostatitis breast cancer Show all 34
ACVR1B activin A receptor, type IB 12q13.13 pituitary tumors,  pancreatic cancer,  traumatic brain injury,  brain injury,  goiter,  eclampsia,  pre-eclampsia,  pituitary adenoma,  pheochromocytoma,  pancreatitis,  adenoma,  asthma,  neuroblastoma,  schizophrenia,  retinitis,  colorectal cancer,  thyroiditis,  prostate cancer,  prostatitis neuronitis Show all 20
ACVR1C activin A receptor, type IC 2q24.1 myositis ossificans,  fibrodysplasia ossificans progressiva,  myositis,  ovarian cancer,  obesity pancreatitis Show all 6
ACVR2A activin A receptor, type IIA 2q22.3 "maturity-onset diabetes of the young, type 2",  maturity-onset diabetes of the young,  primary pulmonary hypertension,  traumatic brain injury,  brain injury,  pheochromocytoma,  goiter,  pre-eclampsia,  pituitary tumors,  eclampsia,  colon cancer,  hyperparathyroidism,  pituitary adenoma,  hypertension,  ovarian cancer,  pancreatic cancer,  blindness,  colorectal cancer,  adenoma,  pancreatitis,  prostate cancer,  prostatitis,  thyroiditis,  adenocarcinoma,  endotheliitis breast cancer Show all 26
ACVR2B activin A receptor, type IIB 3p22.2 acvr2b-related visceral heterotaxy,  "maturity-onset diabetes of the young, type 2",  left-right axis malformations,  right aortic arch,  dextrocardia,  visceral heterotaxy,  heterotaxy,  maturity-onset diabetes of the young,  goiter,  teratocarcinoma,  eclampsia,  pre-eclampsia,  pituitary adenoma,  hyperparathyroidism,  pheochromocytoma,  lateral sclerosis,  amyotrophic lateral sclerosis,  muscular dystrophy,  periodontitis,  adenoma,  myopathy,  esophagitis,  pancreatic cancer,  pancreatitis,  thyroiditis,  endotheliitis,  neuronitis prostatitis Show all 28
ACVRL1 activin A receptor type II-like 1 12q13.13 mixed connective tissue disease,  angiodysplasia,  hereditary hemorrhagic telangiectasia type 2,  acvrl1-related hereditary hemorrhagic telangiectasia,  lymphomatoid papulosis,  heritable pulmonary arterial hypertension,  hereditary hemorrhagic telangiectasia,  arteriovenous malformation,  weber syndrome,  vascular malformations,  inflammatory myofibroblastic tumor,  telangiectasis,  anaplastic large cell lymphoma,  connective tissue disease,  primary pulmonary hypertension,  hepatopulmonary syndrome,  klippel-trenaunay syndrome,  leiomyosarcoma,  sickle cell disease,  hypertension,  rhabdomyosarcoma,  pituitary tumors,  scleroderma,  hyperparathyroidism,  vascular disease,  endotheliitis,  osteoarthritis,  pre-eclampsia,  eclampsia,  pancreatitis,  b-cell lymphomas,  liver disease,  neuropathy,  nasopharyngitis,  hypoxia,  neuroblastoma,  atherosclerosis,  retinitis,  cerebritis,  sarcoma,  pancreatic cancer,  adenocarcinoma,  hepatitis,  leukemia neuronitis Show all 45
ACY1 aminoacylase 1 3p21.2 syringomyelia,  aminoacylase 1 deficiency ,  metabolic disorders,  systolic heart failure,  greig cephalopolysyndactyly syndrome ,  lung cancer,  hypotonia,  herpes simplex,  renal cell carcinoma,  neuroblastoma,  alcoholism,  tuberculosis breast cancer Show all 13
ACY3 aspartoacylase (aminocyclase) 3 11q13.2 hepatitis c,  canavan disease hepatitis
ACYP2 acylphosphatase 2, muscle type 2p16.2 esophageal squamous cell carcinoma,  neuroblastoma,  esophagitis,  squamous cell carcinoma thyroiditis
AD10 Alzheimer disease-10 7q36 alzheimer disease-10 alzheimers disease
AD11 Alzheimer disease-11 9p22.1 alzheimers disease
AD12 Alzheimer disease 12 8p12-q22 alzheimers disease
AD13 Alzheimer disease-13 1q21 alzheimers disease
AD14 Alzheimer disease 14 1q25 alzheimers disease
AD15 Alzheimer disease-15 3q22-q24 alzheimers disease
AD16 Alzheimer disease 16 Xq21.3 alzheimers disease
AD5 Alzheimer disease 5 12p11.23-q13.12 alzheimer disease type 5 alzheimers disease
AD6 Alzheimer disease 6 10q alzheimers disease
AD7 Alzheimer disease 7 10p13 alzheimers disease
AD8 Alzheimer disease 8 20p alzheimer disease 8 alzheimers disease
AD9 Alzheimer disease 9 19p13.2 "alzheimer disease 9, late onset" alzheimers disease
ADA adenosine deaminase 20q13.12 adenosine deaminase deficiency,  peritonitis,  pleurisy,  tuberculous meningitis,  congenital hemolytic anemia,  extrapulmonary tuberculosis,  pericardial effusion,  aseptic meningitis,  miliary tuberculosis,  cauda equina syndrome,  pleural tuberculosis,  intestinal tuberculosis,  tuberculous peritonitis,  listeria meningitis,  partial adenosine deaminase deficiency,  pulmonary tuberculosis,  meningitis,  pericarditis,  reticular dysgenesis,  abdominal tuberculosis,  inosine triphosphate pyrophosphohydrolase deficiency,  tuberculosis,  severe combined immunodeficiency,  constrictive pericarditis,  cardiac tamponade,  cerebral lymphoma,  acquired immunodeficiency syndrome,  alk-negative anaplastic large cell lymphoma,  gauchers disease,  omenn syndrome,  viral encephalitis,  bacterial meningitis,  legionnaires disease,  brucellosis,  purine nucleoside phosphorylase deficiency,  hairy cell leukemia,  bronchogenic carcinoma,  hemolytic anemia,  progressive multifocal leukoencephalopathy,  primary immunodeficiency disease,  metabolic disorders,  lymphopenia,  q fever,  leishmaniasis,  systemic scleroderma,  behcets disease,  prolymphocytic leukemia,  macroglobulinemia,  mycosis fungoides,  cholecystitis,  pulmonary edema,  graft versus host disease,  autistic disorder,  appendicitis,  visceral leishmaniasis,  end stage renal failure,  chronic graft versus host disease,  hyperuricemia,  langerhans-cell histiocytosis,  anemia,  peripheral t-cell lymphoma,  waldenstrom macroglobulinemia,  atrophic gastritis,  cutaneous leishmaniasis,  chronic granulomatous disease,  typhoid fever,  fibromyalgia,  hematopoietic stem cell transplantation,  mucopolysaccharidosis,  bronchopulmonary dysplasia,  pancreatic diseases,  histiocytosis,  juvenile rheumatoid arthritis,  encephalitis,  gastric ulcer,  skeletal dysplasias,  scleroderma,  hepatitis a,  xeroderma pigmentosum,  cutaneous t cell lymphoma,  brain ischemia,  human immunodeficiency virus infectious disease,  maturity-onset diabetes of the young,  acute graft versus host disease,  cerebral malaria,  leukopenia,  duchenne muscular dystrophy,  mediastinitis,  familial mediterranean fever,  t-cell leukemia,  common variable immunodeficiency,  adult t-cell leukemia,  trypanosomiasis,  panic disorder,  sarcoidosis,  gastritis,  congestive heart failure,  liver cirrhosis,  viral hepatitis,  toxoplasmosis,  hypercholesterolemia,  anaplastic large cell lymphoma,  thymoma,  monocytic leukemia,  rheumatoid arthritis,  pneumonia,  uveitis,  malaria,  autoimmune thyroiditis,  myeloid leukemia,  pre-eclampsia,  lymphoblastic leukemia,  type 1 diabetes mellitus,  hypothyroidism,  autism spectrum disorder,  type 1 diabetes,  eclampsia,  nephrotic syndrome,  lupus erythematosus,  ankylosing spondylitis,  chronic lymphocytic leukemia,  burkitts lymphoma,  influenza,  spondylitis,  duodenitis,  celiac disease,  cerebritis,  colon adenocarcinoma,  non-hodgkin lymphoma,  laryngitis,  hodgkins lymphoma,  pheochromocytoma,  hypertension,  muscular dystrophy,  arthritis,  pertussis,  leukemia,  fanconis anemia,  ischemia,  chronic myeloid leukemia,  hepatitis,  essential hypertension,  down syndrome,  psoriasis,  asthma,  acute lymphoblastic leukemia,  cystic fibrosis,  dementia,  acute myeloid leukemia,  crohns disease,  infertility,  hypoxia,  diabetes mellitus,  liver disease,  multiple myeloma,  myocardial infarction,  myeloma,  adenocarcinoma,  systemic lupus erythematosus,  pancreatitis,  endotheliitis,  multiple sclerosis,  hepatitis c,  mental retardation,  neuroblastoma,  melanoma,  glioblastoma,  thyroiditis,  alcoholism,  obesity,  gastric cancer,  sarcoma,  hepatitis b,  pancreatic cancer,  breast cancer,  retinitis,  alzheimers disease,  lung cancer,  colorectal cancer,  prostate cancer,  prostatitis neuronitis Show all 182
ADAD1 adenosine deaminase domain containing 1 (testis-specific) 4q27 myxoid liposarcoma,  liposarcoma,  celiac disease,  myotonic dystrophy,  down syndrome,  type 1 diabetes,  multiple sclerosis,  rheumatoid arthritis,  arthritis,  thyroiditis,  neuronitis breast cancer Show all 12
ADAD2 adenosine deaminase domain containing 2 16q24.1 ovarian cyst azoospermia
ADAL adenosine deaminase-like 15q15.3 hyperopia,  epididymitis tuberculosis
ADAM10 ADAM metallopeptidase domain 10 15q21.3 anoxia,  amyloidosis,  adenoiditis,  adenoid cystic carcinoma,  down syndrome,  mantle cell lymphoma,  osteoarthritis,  prostate adenocarcinoma,  alzheimers disease,  narcolepsy,  eclampsia,  pre-eclampsia,  dilated cardiomyopathy,  basal cell carcinoma,  pituitary adenoma,  lateral sclerosis,  amyotrophic lateral sclerosis,  myopathy,  colon cancer,  oral squamous cell carcinoma,  kidney disease,  dermatitis,  prostatitis,  hodgkins lymphoma,  melanoma,  multiple sclerosis,  prostate cancer,  atherosclerosis,  glioblastoma,  squamous cell carcinoma,  neuroblastoma,  myeloid leukemia,  hypoxia,  adenoma,  gastric cancer,  endotheliitis,  cerebritis,  adenocarcinoma,  retinitis,  hepatocellular carcinoma,  leukemia,  pancreatitis,  hepatitis,  breast cancer neuronitis Show all 45
ADAM11 ADAM metallopeptidase domain 11 17q21.31 breast cancer,  pancreatic cancer,  alcoholism,  pancreatitis,  prostate cancer prostatitis Show all 6
ADAM12 ADAM metallopeptidase domain 12 10q26.2 skeletal muscle regeneration,  edwards syndrome,  giant cell tumor,  ectopic pregnancy,  osteoarthritis,  wegeners granulomatosis,  down syndrome,  keloids,  laryngeal carcinoma,  eclampsia,  pre-eclampsia,  non-small cell lung carcinoma,  dilated cardiomyopathy,  laryngitis,  basal cell carcinoma,  rhabdomyosarcoma,  muscular dystrophy,  gastric cancer,  lung adenocarcinoma,  alzheimers disease,  oral squamous cell carcinoma,  asthma,  esophagitis,  glioblastoma,  adenocarcinoma,  schizophrenia,  breast cancer,  squamous cell carcinoma,  melanoma hepatitis Show all 30
ADAM15 ADAM metallopeptidase domain 15 1q22 congenital heart defect,  "prostate cancer, progression of",  epididymitis,  dilated cardiomyopathy,  prostate cancer,  down syndrome,  inflammatory bowel disease,  rheumatoid arthritis,  arthritis,  prostatitis,  atherosclerosis,  schizophrenia,  cerebritis,  gastric cancer,  breast cancer,  alzheimers disease,  endotheliitis,  melanoma,  ovarian cancer squamous cell carcinoma Show all 20
ADAM17 ADAM metallopeptidase domain 17 2p25.1 neonatal inflammatory skin and bowel disease,  vitamin b12 deficiency,  chorioamnionitis,  renal osteodystrophy,  differentiating neuroblastoma,  severe acute respiratory syndrome,  interstitial lung disease,  acute myocardial infarction,  toxic shock syndrome,  congestive heart failure,  dilated cardiomyopathy,  gastrointestinal stromal tumor,  pulmonary tuberculosis,  myocarditis,  abdominal aortic aneurysm,  rabies,  osteoarthritis,  pancreatic ductal adenocarcinoma,  aortic aneurysm,  cleft lip,  periodontal disease,  prostate adenocarcinoma,  multiple sclerosis,  neuroblastoma,  psoriasis,  myocardial infarction,  inflammatory bowel disease,  periodontitis,  skin cancer,  basal cell carcinoma,  cholera,  oral squamous cell carcinoma,  alzheimers disease,  diarrhea,  sjogrens syndrome,  peritonitis,  atherosclerosis,