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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.

21,825 "disease genes" are currently present in the GeneCards database
This is a partial list of 5,000 genes. The complete list contains 21,825 genes.

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The genes listed here cause, predispose or protect from diseases

GeneCards Gene Gene Name Locus MalaCards Disorders (sorted by relevance)
3.8-1.2 HLA complex group 26 (non-protein coding) pseudogene 6p21.3 neuropathy ischemic optic neuropathy
A1BG alpha-1-B glycoprotein 19q13.43 adenocarcinoma,  lung cancer,  pancreatitis,  rheumatoid arthritis,  arthritis,  cholesteatoma,  pancreatic ductal adenocarcinoma,  nephrotic syndrome,  otitis media,  respiratory failure,  hepatoblastoma,  otosclerosis steroid-resistant nephrotic syndrome Show all 13
A1CF APOBEC1 complementation factor 10q11.23 hepatocellular carcinoma,  cholera,  hydrocele,  amblyopia anisometropia
A2M alpha-2-macroglobulin 12p13.31 melanoma,  prostate cancer,  prostatitis,  neuronitis,  cervicitis,  multiple myeloma,  myeloma,  endotheliitis,  cerebritis,  hepatitis,  periodontitis,  pancreatitis,  hepatitis c,  nasopharyngitis,  glaucoma,  amyloidosis,  alzheimers disease,  choroiditis,  neuroblastoma,  peritonitis,  venous thrombosis,  thromboembolism,  age related macular degeneration,  myocardial infarction,  obesity,  diabetes mellitus,  rheumatoid arthritis,  parkinsons disease,  arthritis,  cor pulmonale,  gingivitis,  astrocytoma,  cystic fibrosis,  liver disease,  multiple sclerosis,  hiv-1,  tremor,  disseminated intravascular coagulation,  nephrotic syndrome,  acute pancreatitis,  fatty liver disease,  meningitis,  essential tremor,  dementia,  ovarian hyperstimulation syndrome,  mastitis,  alpha 1-antitrypsin deficiency,  cerebral amyloid angiopathy,  argyrophilic grain disease,  alpha-2-macroglobulin deficiency senile systemic amyloidosis Show all 51
A2ML1 alpha-2-macroglobulin-like 1 12p13.31 alzheimers disease,  bullous pemphigoid,  pemphigus paraneoplastic pemphigus
A2MP1 alpha-2-macroglobulin pseudogene 1 12p13.31 breast cancer,  hepatocellular carcinoma alzheimers disease
A4GALT alpha 1,4-galactosyltransferase 22q13.2 endotheliitis,  leukemia,  hemolytic-uremic syndrome,  hiv-1,  malaria,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma,  fabry disease nor polyagglutination syndrome Show all 9
A4GNT alpha-1,4-N-acetylglucosaminyltransferase 3q22.3 adenocarcinoma,  prostatitis,  cerebritis,  pancreatitis,  pancreatic cancer,  tonsillitis gastric adenocarcinoma Show all 7
AA06 uncharacterized LOC100506677 17q12 neuroblastoma neurofibromatosis
AA1 Alopecia areata 1 18p11.3-p11.2 alopecia,  alopecia areata alopecia areata 1
AA2 Alopecia areata 2 16q11-q22 alopecia,  alopecia areata alopecia areata 2
AAA1 aortic aneurysm, familial abdominal 1 19q13 asthma,  abdominal aortic aneurysm aortic aneurysm
AAA2 Aortic aneurysm, familial abdominal 2 4q31 aortic aneurysm "aortic aneurysm, familial abdominal 2"
AAA3 Aneurysm, familial abdominal 3 9p21 "aneurysm, familial abdominal 3"
AAA4 Aortic aneurysm, familial abdominal, 4 12q13.3 aortic aneurysm "aortic aneurysm, familial abdominal, 4"
AAAS achalasia, adrenocortical insufficiency, alacrimia 12q13.13 multiple myeloma,  myeloma,  hepatitis,  esophagitis,  peripheral neuropathy,  axonal neuropathy,  neuropathy,  short stature,  infertility,  polyneuropathy,  abdominal aortic aneurysm,  aortic aneurysm,  hiv-1,  malaria,  neutropenia,  influenza,  myoclonus,  dysphagia,  dysautonomia,  achalasia,  adrenocortical insufficiency,  idiopathic achalasia,  triple-a syndrome,  "night blindness, congenital stationary , 2b, autosomal recessive",  ruptured abdominal aortic aneurysm,  achalasia-addisonianism-alacrima syndrome,  accommodative spasm "alacrima, achalasia, and mental retardation syndrome" Show all 28
AACS acetoacetyl-CoA synthetase 12q24.31 cerebritis compartment syndrome
AADAC arylacetamide deacetylase 3q25.1 labyrinthitis,  prostate cancer,  prostatitis,  endotheliitis,  hepatitis,  pancreatitis,  infertility,  tuberculosis,  neutral lipid storage disease,  lipid storage disease ectropion Show all 11
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,  obesity tuberculosis
AADAT aminoadipate aminotransferase 4q33 prostatitis,  neuronitis,  thyroiditis,  huntingtons disease,  down syndrome,  schizophrenia,  pneumonia meningitis Show all 8
AAGAB alpha- and gamma-adaptin binding protein 15q23 squamous cell carcinoma,  multiple myeloma,  myeloma,  keratosis,  osteoporosis,  keratoderma,  palmoplantar keratosis "keratoderma, palmoplantar, punctate type ia" Show all 8
AAK1 AP2 associated kinase 1 2p13.3 adenocarcinoma,  neuronitis,  parkinsons disease,  colon adenocarcinoma,  fasciitis necrotizing fasciitis Show all 6
AAMP angio-associated, migratory cell protein 2q35 melanoma,  adenocarcinoma,  atherosclerosis,  endotheliitis,  breast cancer,  cerebritis,  hepatitis,  ulcerative colitis,  thyroiditis,  hepatitis b,  hydrocephalus,  alzheimers disease,  tonsillitis,  colon adenocarcinoma,  malaria,  normal pressure hydrocephalus coronary restenosis Show all 17
AANAT aralkylamine N-acetyltransferase 17q25.1 adenocarcinoma,  prostate cancer,  prostatitis,  retinitis,  multiple myeloma,  myeloma,  breast cancer,  asthma,  retinoblastoma,  schizophrenia,  cholangiocarcinoma,  cholera,  bipolar i disorder,  schizoaffective disorder,  autism spectrum disorder,  sleep disorder,  pineocytoma,  meningothelial meningioma delayed sleep phase syndrome Show all 19
AARS alanyl-tRNA synthetase 16q22.1 neuronitis,  multiple myeloma,  myeloma,  cerebritis,  tooth disease,  charcot-marie-tooth disease,  axonal neuropathy,  neuropathy,  renal cell carcinoma,  type 1 diabetes,  diabetes mellitus,  pneumonia,  idiopathic pulmonary fibrosis,  scleroderma,  pulmonary fibrosis,  myopathy,  malaria,  type 1 diabetes mellitus,  tuberculosis,  distal hereditary motor neuropathy,  appendicitis,  myositis,  dermatomyositis,  charcot-marie-tooth neuropathy type 2,  charcot-marie-tooth disease type 2,  polymyositis,  interstitial lung disease,  lip cancer,  mitochondrial cardiomyopathy,  charcot-marie-tooth neuropathy type 2n "charcot-marie-tooth disease, axonal, type 2n" Show all 31
AARS2 alanyl-tRNA synthetase 2, mitochondrial 6p21.1 multiple myeloma,  myeloma,  pneumonia,  tuberculosis,  hypertrophic cardiomyopathy,  mitochondrial cardiomyopathy,  favism combined oxidative phosphorylation deficiency 8 Show all 8
AARSD1 alanyl-tRNA synthetase domain containing 1 17q21.31 ovarian cancer
AASDH aminoadipate-semialdehyde dehydrogenase 4q12 pneumonia,  malaria tuberculosis
AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase 11q22.3 prostatitis,  endotheliitis,  cerebritis,  attention deficit hyperactivity disorder,  thyroiditis,  tonsillitis,  malaria williams-beuren syndrome Show all 8
AASS aminoadipate-semialdehyde synthase 7q31.32 labyrinthitis,  prostatitis,  multiple myeloma,  myeloma,  endotheliitis,  hepatitis,  pharyngitis,  hepatocellular carcinoma,  ischemia,  diabetes mellitus,  diabetic retinopathy,  burns,  anoxia,  myopathy,  malaria,  nemaline myopathy,  hyperlysinemia,  drug dependence,  breast lymphoma,  peliosis hepatis saccharopinuria Show all 21
AASTH1 Allergic/atopic asthma related QTL 1 asthma
AASTH10 Allergic/atopic asthma related QTL 10 asthma
AASTH11 Allergic/atopic asthma related QTL 11 asthma
AASTH12 Allergic/atopic asthma related QTL 12 asthma
AASTH13 Allergic/atopic asthma related QTL 13 asthma
AASTH14 Allergic/atopic asthma related QTL 14 asthma
AASTH15 Allergic/atopic asthma related QTL 15 asthma
AASTH16 Allergic/atopic asthma related QTL 16 asthma
AASTH17 Allergic/atopic asthma related QTL 17 asthma atopy
AASTH18 Allergic/atopic asthma related QTL 18 asthma
AASTH2 Allergic/atopic asthma related QTL 2 asthma
AASTH20 Allergic/atopic asthma related QTL 20 asthma
AASTH21 Allergic/atopic asthma related QTL 21 asthma
AASTH22 Allergic/atopic asthma related QTL 22 asthma
AASTH23 Allergic/atopic asthma related QTL 23 asthma
AASTH24 Allergic/atopic asthma related QTL 24 asthma
AASTH25 Allergic/atopic asthma related QTL 25 asthma
AASTH26 Allergic/atopic asthma related QTL 25 asthma
AASTH27 Allergic/atopic asthma related QTL 27 asthma
AASTH28 Allergic/Atopic asthma related QTL 28 asthma
AASTH29 Allergic/Atopic asthma related QTL 29 asthma
AASTH30 Allergic/atopic asthma related QTL 30 asthma
AASTH32 Allergic/Atopic asthma related QTL 32 asthma
AASTH33 Allergic/atopic asthma related QTL 33 asthma atopy
AASTH34 Allergic/atopic asthma related QTL 34 asthma atopy
AASTH35 Allergic/atopic asthma related QTL 35 asthma
AASTH36 Allergic/atopic asthma related QTL 36 asthma atopy
AASTH37 Allergic/atopic asthma related QTL 37 asthma atopy
AASTH38 Allergic/atopic asthma related QTL 38 asthma
AASTH39 Allergic/atopic asthma related QTL 39 asthma
AASTH4 Allergic/atopic asthma related QTL 4 asthma
AASTH40 Allergic/atopic asthma related QTL 40 asthma
AASTH41 Allergic/Atopic asthma related QTL 41 asthma
AASTH42 Allergic/atopic asthma related QTL 42 asthma
AASTH43 Allergic/atopic asthma related QTL 43 asthma
AASTH44 Allergic/atopic asthma related QTL 44 asthma
AASTH47 Allergic/atopic asthma related QTL 47 asthma
AASTH48 Allergic/atopic asthma related QTL 48 asthma
AASTH49 Allergic/atopic asthma related QTL 49 asthma
AASTH5 Allergic/atopic asthma related QTL 5 asthma
AASTH50 Allergic/atopic asthma related QTL 50 asthma
AASTH51 Allergic/atopic asthma related QTL 51 asthma
AASTH52 Allergic/atopic asthma related QTL 52 asthma
AASTH53 Allergic/atopic asthma related QTL 53 asthma
AASTH54 Allergic/atopic asthma related QTL 54 asthma
AASTH55 Allergic/atopic asthma related QTL 5 asthma atopy
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 aortic aneurysm,  aneurysm disease "aortic aneurysm, familial thoracic 1"
AAT2 Aortic aneurysm, familial thoracic 2 5q13-q14 aortic aneurysm,  thoracic aortic aneurysm,  familial thoracic aortic aneurysm and dissection "aortic aneurysm, familial thoracic 2"
AATF apoptosis antagonizing transcription factor 17q12 neuronitis,  multiple myeloma,  myeloma,  breast cancer,  cerebritis,  retinoblastoma,  alzheimers disease,  obesity,  hiv-1,  malaria,  dementia molluscum contagiosum Show all 12
AATK apoptosis-associated tyrosine kinase 17q25.3 neuronitis,  neuroblastoma,  obesity,  moyamoya disease adenoma
AAVS1 adeno-associated virus integration site 1 19q13|19q13-qter retinitis,  glaucoma,  sinusitis,  herpes simplex,  cystic fibrosis,  rabies homocystinuria Show all 7
ABAT 4-aminobutyrate aminotransferase 16p13.2 prostatitis,  neuronitis,  multiple myeloma,  myeloma,  cerebritis,  esophagitis,  pancreatitis,  thyroiditis,  alzheimers disease,  hypoxia,  schizophrenia,  narcolepsy,  lateral sclerosis,  amyotrophic lateral sclerosis,  ischemia,  malaria,  tuberculosis,  neurologic diseases,  hypotonia,  asperger syndrome,  west syndrome,  tardive dyskinesia,  temporal lobe epilepsy,  panic disorder,  status epilepticus,  nicotine addiction,  early myoclonic encephalopathy,  paranoid schizophrenia,  succinic semialdehyde dehydrogenase deficiency,  stiff-person syndrome,  homocarnosinosis,  lennox-gastaut syndrome,  asphyxia neonatorum gaba aminotransferase deficiency Show all 34
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 9q31.1 melanoma,  prostate cancer,  prostatitis,  neuronitis,  atherosclerosis,  lung cancer,  retinitis,  multiple myeloma,  myeloma,  endotheliitis,  breast cancer,  cerebritis,  hepatitis,  myopia,  pancreatitis,  thyroiditis,  hepatocellular carcinoma,  coronary heart disease,  colorectal cancer,  scott syndrome,  peripheral neuropathy,  neuropathy,  alzheimers disease,  hypoxia,  schizophrenia,  pre-eclampsia,  eclampsia,  hypertension,  familial hypercholesterolemia,  ischemic heart disease,  vascular disease,  age related macular degeneration,  hypercholesterolemia,  myocardial infarction,  coronary artery disease,  lateral sclerosis,  amyotrophic lateral sclerosis,  kidney disease,  ischemia,  obesity,  diabetes mellitus,  rheumatoid arthritis,  arthritis,  pterygium,  glomerulonephritis,  hyperglycemia,  diabetic nephropathy,  cystic fibrosis,  hiv-1,  malaria,  breast and colorectal cancer,  nephrotic syndrome,  lipodystrophy,  insulin resistance,  tuberculosis,  cardiovascular disease risk factor,  syringomyelia,  neurologic diseases,  dementia,  lung cancer susceptibility,  insulinoma,  polycystic ovary syndrome,  aortic atherosclerosis,  dermatitis,  tangier disease,  antiphospholipid syndrome,  smith-lemli-opitz syndrome,  sjogrens syndrome,  hypertriglyceridemia,  patent ductus arteriosus,  splenomegaly,  xeroderma pigmentosum,  chediak-higashi syndrome,  hypoalphalipoproteinemia,  picks disease,  "xeroderma pigmentosum, group c",  niemann-pick disease,  cerebral amyloid angiopathy,  xanthomatosis,  cholesteryl ester storage disease,  hyperalphalipoproteinemia,  familial hdl deficiency,  pontocerebellar hypoplasia type 4 ,  lysosomal acid lipase deficiency,  "coronary artery disease in familial hypercholesterolemia, protection against",  abca1-related disorders,  lewis-sumner syndrome abca1-associated familial high density lipoprotein deficiency Show all 88
ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 17q24.3 tuberculosis
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 2q35 multiple myeloma,  myeloma,  pancreatitis,  pancreatic cancer,  skin disease,  alzheimers disease,  pneumonia,  tuberculosis,  alopecia,  tangier disease,  keratoderma,  autosomal recessive congenital ichthyosis,  "ichthyosis, congenital, autosomal recessive 1",  ichthyosis vulgaris,  "ichthyosis, congenital, autosomal recessive 2",  congenital ichthyosiform erythroderma,  ectropion,  "nemaline myopathy 4, autosomal dominant",  "tpm2-related arthrogryposis multiplex congenita, distal, type 2b",  "ichthyosis, congenital, autosomal recessive 4a",  ichthyosis lamellar 2,  harlequin type ichthyosis,  "ichthyosis, autosomal recessive 4b" abca12-related autosomal recessive congenital ichthyosis Show all 24
ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 7p12.3 major depressive disorder,  bipolar disorder,  schizophrenia,  pneumonia,  tuberculosis,  pulmonary function,  autism spectrum disorder tangier disease Show all 8
ABCA17P ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene 16p13.3 pseudoxanthoma elasticum
ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2 9q34.3 prostatitis,  atherosclerosis,  lung cancer,  alzheimers disease,  ataxia,  lupus erythematosus,  systemic lupus erythematosus,  tuberculosis,  neuroma,  dementia developmental coordination disorder Show all 11
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 16p13.3 multiple myeloma,  myeloma,  leukemia,  breast cancer,  thyroiditis,  colorectal cancer,  acute myeloid leukemia,  myeloid leukemia,  pneumonia,  pulmonary fibrosis,  malaria,  breast and colorectal cancer,  tuberculosis,  respiratory failure,  tangier disease,  b-cell lymphomas,  newborn respiratory distress syndrome,  interstitial lung disease,  pulmonary alveolar proteinosis,  congenital ichthyosiform erythroderma,  "surfactant metabolism dysfunction, pulmonary, 1",  pseudoxanthoma elasticum,  surfactant dysfunction,  pulmonary surfactant metabolism dysfunction,  "emery-dreifuss muscular dystrophy 1, x-linked",  "surfactant metabolism dysfunction, pulmonary, 3" abca3-related pulmonary surfactant metabolism dysfunction Show all 27
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1p22.1 cleft lip,  atherosclerosis,  squamous cell carcinoma,  retinitis,  multiple myeloma,  myeloma,  endotheliitis,  hepatitis,  cleft palate,  esophagitis,  blindness,  esophageal squamous cell carcinoma,  colorectal cancer,  glaucoma,  hepatitis b,  choroiditis,  age related macular degeneration,  retinal disease,  retinal degeneration,  breast and colorectal cancer,  tuberculosis,  eye disease,  leber congenital amaurosis,  retinitis pigmentosa,  choroideremia,  neurologic diseases,  fundus dystrophy,  orofacial cleft,  tangier disease,  rhyns syndrome,  pigmentary retinopathy,  night blindness,  toxoplasmosis,  vitelliform macular dystrophy,  macular dystrophy,  primary open angle glaucoma,  open-angle glaucoma,  cone-rod dystrophy,  congenital toxoplasmosis,  cone-rod dystrophy 2,  retinoschisis,  pseudoxanthoma elasticum,  partial central choroid dystrophy,  scotoma,  stargardt disease,  pustulosis of palm and sole,  "stargardt disease, autosomal recessive",  retinitis pigmentosa 3,  stargardt macular degeneration,  macular holes,  "familial schizencephaly, emx2-related",  "episodic muscle weakness, x-linked",  "retinal dystrophy, early-onset, severe",  fundus flavimaculatus,  abca4-related stargardt disease 1,  retinitis pigmentosa 19 ,  abca4-related retinitis pigmentosa,  age-related macular degeneration 2 cone-rod dystrophy 3 Show all 59
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5 17q24.3 melanoma,  prostatitis,  lung cancer,  osteosarcoma,  malaria,  tuberculosis lung cancer susceptibility Show all 7
ABCA6 ATP-binding cassette, sub-family A (ABC1), member 6 17q24.3 lung cancer,  endotheliitis,  tuberculosis lung cancer susceptibility
ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 19p13.3 prostatitis,  lung cancer,  endotheliitis,  cerebritis,  thyroiditis,  coronary heart disease,  alzheimers disease,  schizophrenia,  tonsillitis,  tuberculosis,  respiratory failure,  neurologic diseases,  lung cancer susceptibility,  asperger syndrome,  tangier disease,  sjogrens syndrome neonatal respiratory failure Show all 17
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 lung adenocarcinoma,  cleft lip,  mood disorder,  chondrosarcoma,  hyperparathyroidism,  endometrial carcinoma,  chronic lymphocytic leukemia,  melanoma,  adenocarcinoma,  prostate cancer,  prostatitis,  neuronitis,  cervicitis,  atherosclerosis,  lung cancer,  squamous cell carcinoma,  retinitis,  multiple myeloma,  ovarian cancer,  myeloma,  endotheliitis,  leukemia,  breast cancer,  cerebritis,  hepatitis,  hematopoietic stem cell transplantation,  attention deficit hyperactivity disorder,  cervical cancer,  cleft palate,  graft versus host disease,  inflammatory bowel disease,  esophagitis,  ulcerative colitis,  esophageal squamous cell carcinoma,  pancreatitis,  thyroiditis,  pancreatic cancer,  asthma,  malignant glioma,  hepatocellular carcinoma,  hepatitis c,  major depressive disorder,  colorectal cancer,  tooth disease,  charcot-marie-tooth disease,  peripheral neuropathy,  neuropathy,  nasopharyngitis,  crohns disease,  lymphoblastic lymphoma,  glaucoma,  acute myeloid leukemia,  myeloid leukemia,  hepatitis b,  bladder carcinoma,  peripheral t-cell lymphoma,  synovial sarcoma,  down syndrome,  transitional cell carcinoma,  retinoblastoma,  rhabdomyosarcoma,  chronic myeloid leukemia,  alzheimers disease,  medulloblastoma,  t-cell leukemia,  oral squamous cell carcinoma,  infertility,  osteosarcoma,  choroiditis,  hodgkins lymphoma,  sarcoma,  renal cell carcinoma,  hypoxia,  bipolar disorder,  schizophrenia,  gastrointestinal stromal tumor,  myelodysplastic syndromes,  lymphoblastic leukemia,  neuroblastoma,  peritonitis,  hypertension,  familial hypercholesterolemia,  gigantism,  hypercholesterolemia,  myocardial infarction,  coronary artery disease,  kidney disease,  essential hypertension,  hepatitis c virus,  ischemia,  obesity,  rheumatoid arthritis,  parkinsons disease,  arthritis,  kaposis sarcoma,  brain glioma,  gingival overgrowth,  peptic ulcer,  glomerulonephritis,  duodenitis,  "leukemia/lymphoma, t-cell",  laryngitis,  gingivitis,  pituitary adenoma,  gallbladder cancer,  adrenocortical carcinoma,  acute lymphocytic leukemia,  leiomyosarcoma,  fibrosarcoma,  squamous cell carcinoma of the head and neck,  seminoma,  noma,  laryngeal squamous cell carcinoma,  behcets disease,  soft tissue sarcoma,  b-cell chronic lymphocytic leukemia,  adenoma,  astrocytoma,  vasculitis,  purpura,  diarrhea,  childhood leukemia,  gastric adenocarcinoma,  wilms tumor,  acute leukemia,  non-hodgkin lymphoma,  colon adenocarcinoma,  esophageal cancer,  glioblastoma multiforme,  cystic fibrosis,  multiple sclerosis,  hiv-1,  viral hepatitis,  malaria,  tremor,  breast and colorectal cancer,  nephrotic syndrome,  cholestasis,  lupus erythematosus,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma,  systemic lupus erythematosus,  anorexia nervosa,  chordoma,  tuberculosis,  primary hyperparathyroidism,  encephalitis,  cholera,  stomach cancer,  germ cell cancer,  parathyroid adenoma,  ductal carcinoma in situ,  sporadic breast cancer,  pervasive developmental disorder,  dementia,  gastritis,  vaginitis,  hepatoblastoma,  lung cancer susceptibility,  leishmaniasis,  tuberous sclerosis,  brain cancer,  adult t-cell leukemia,  neutropenia,  was-related disorders,  primary biliary cirrhosis,  severe combined immunodeficiency,  male infertility,  myasthenia gravis,  breast adenocarcinoma,  cystadenocarcinoma,  fibrous histiocytoma,  histiocytoma,  mantle cell lymphoma,  tardive dyskinesia,  influenza,  vaccinia,  mediastinitis,  acute promyelocytic leukemia,  monocytic leukemia,  toxic encephalopathy,  mycosis fungoides,  cutaneous t cell lymphoma,  b-cell lymphomas,  cholangitis,  congestive heart failure,  temporal lobe epilepsy,  familial mediterranean fever,  lymphoid leukemia,  steroid-resistant nephrotic syndrome,  addisons disease,  xeroderma pigmentosum,  pulmonary tuberculosis,  microsporidiosis,  alcoholic pancreatitis,  sclerosing cholangitis,  primary sclerosing cholangitis,  leukopenia,  visceral leishmaniasis,  castlemans disease,  morbid obesity,  status epilepticus,  multidrug-resistant tuberculosis,  intrahepatic cholestasis,  embryonal rhabdomyosarcoma,  ileus,  t cell deficiency,  heroin dependence,  uterine sarcoma,  renal clear cell carcinoma,  gilbert syndrome,  hepatitis a,  chronic pain,  nephroblastoma,  core binding factor acute myeloid leukemia,  balanitis,  osteonecrosis,  somatostatin analog,  malignant peripheral nerve sheath tumor,  prolymphocytic leukemia,  ganglioneuroblastoma,  plasmablastic lymphoma,  cockayne syndrome,  acute non lymphoblastic leukemia,  gastroparesis,  orbit rhabdomyosarcoma,  neonatal abstinence syndrome,  postural hypotension,  warfarin sensitivity,  pseudoxanthoma elasticum,  cerebral amyloid angiopathy,  cannabis dependence,  engraftment syndrome,  neuroretinitis,  ovarian cystadenocarcinoma,  colchicine resistance,  paralytic ileus,  5-fluorouracil toxicity,  nemaline myopathy 1 inflammatory bowel disease 13 Show all 240
ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 1q42.13 prostatitis,  leukemia,  thyroiditis,  colorectal cancer,  acute myeloid leukemia,  myeloid leukemia,  malaria,  breast and colorectal cancer,  tuberculosis,  bare lymphocyte syndrome wegener-like granulomatosis Show all 11
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 2q31.1 melanoma,  adenocarcinoma,  prostate cancer,  prostatitis,  lung cancer,  multiple myeloma,  ovarian cancer,  myeloma,  endotheliitis,  leukemia,  breast cancer,  hepatitis,  esophagitis,  hepatocellular carcinoma,  coronary heart disease,  hepatitis c,  crohns disease,  acute myeloid leukemia,  myeloid leukemia,  down syndrome,  osteosarcoma,  hodgkins lymphoma,  sarcoma,  myelodysplastic syndromes,  neuroblastoma,  hepatitis c virus,  duodenitis,  biliary atresia,  non-hodgkin lymphoma,  cystic fibrosis,  liver disease,  cholestasis,  alagille syndrome,  fatty liver disease,  lung cancer susceptibility,  primary biliary cirrhosis,  cholelithiasis,  vaccinia,  mediastinitis,  b-cell lymphomas,  cholangitis,  sclerosing cholangitis,  primary sclerosing cholangitis,  hereditary spherocytosis,  intrahepatic cholestasis of pregnancy,  intrahepatic cholestasis,  benign recurrent intrahepatic cholestasis,  low gamma-gt familial intrahepatic cholestasis,  benign recurrent intrahepatic cholestasis 2,  "cholestasis, progressive familial intrahepatic 2" abcb11-related intrahepatic cholestasis Show all 51
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 7q21.12 chronic lymphocytic leukemia,  adenocarcinoma,  multiple myeloma,  ovarian cancer,  myeloma,  endotheliitis,  leukemia,  breast cancer,  hepatitis,  esophagitis,  pancreatitis,  hepatocellular carcinoma,  coronary heart disease,  hepatitis c,  peripheral neuropathy,  neuropathy,  crohns disease,  hepatitis b,  hepatitis c virus,  biliary atresia,  gallbladder cancer,  cataract,  b-cell chronic lymphocytic leukemia,  acute leukemia,  cystic fibrosis,  liver disease,  hiv-1,  malaria,  cholestasis,  cholangiocarcinoma,  alagille syndrome,  primary biliary cirrhosis,  cholelithiasis,  cholangitis,  sclerosing cholangitis,  primary sclerosing cholangitis,  intrahepatic cholestasis of pregnancy,  intrahepatic cholestasis,  choledocholithiasis,  prolymphocytic leukemia,  gallbladder disease,  gallbladder disease 1 ,  "cholestasis, intrahepatic, of pregnancy, 3" "cholestasis, progressive familial intrahepatic 3" Show all 44
ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 7p21.1 melanoma,  prostate cancer,  prostatitis,  squamous cell carcinoma,  leukemia,  dental caries,  pancreatitis,  pancreatic cancer,  colorectal cancer,  crohns disease,  oral squamous cell carcinoma,  obesity breast and colorectal cancer Show all 13
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 2q35 retinitis,  multiple myeloma,  myeloma,  breast cancer,  cerebritis,  hepatitis,  matthew-wood syndrome,  hepatocellular carcinoma,  colorectal cancer,  choroiditis,  pneumonia,  cataract,  cystic fibrosis,  malaria,  breast and colorectal cancer,  cholestasis,  coloboma,  tuberculosis,  microphthalmia,  adrenoleukodystrophy,  aminoaciduria,  exhibitionism,  trichotillomania ,  stereotypic movement disorder,  gastrointestinal adenoma,  hepadnavirus infection,  "microphthalmia, isolated, with coloboma 7",  familial pseudohyperkalemia dyschromatosis universalis hereditaria 3 Show all 29
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 Xq13.3 prostate cancer,  prostatitis,  lung cancer,  multiple myeloma,  myeloma,  breast cancer,  hepatitis,  blindness,  pancreatitis,  thyroiditis,  hepatocellular carcinoma,  hepatitis c,  colorectal cancer,  hepatitis b,  proteinuria,  hypertension,  ataxia,  hypercholesterolemia,  myocarditis,  myocardial infarction,  acute myocardial infarction,  hepatitis c virus,  ischemia,  obesity,  diabetes mellitus,  hemangioma,  pneumonia,  burns,  testicular cancer,  liver cirrhosis,  liver disease,  hiv-1,  viral hepatitis,  malaria,  spinocerebellar ataxia,  cerebellar ataxia,  acute myocarditis,  schistosomiasis,  thrombocytopenia,  cholestasis,  acute pancreatitis,  fatty liver disease,  alcohol dependence,  tuberculosis,  portal vein thrombosis,  short bowel syndrome,  autoimmune hepatitis,  leishmaniasis,  primary biliary cirrhosis,  refractory anemia,  dermatomyositis,  hemochromatosis,  hypertriglyceridemia,  pearson syndrome,  sideroblastic anemia,  addisons disease,  eating disorder,  leukopenia,  visceral leishmaniasis,  friedreich ataxia,  x-linked sideroblastic anemia,  x-linked sideroblastic anemia with ataxia,  morbid obesity,  substance abuse,  nonalcoholic steatohepatitis,  alcohol abuse,  agammaglobulinemia,  intrahepatic cholestasis of pregnancy,  intrahepatic cholestasis,  leptospirosis,  hepatitis a,  syphilis,  congenital syphilis,  sleeping sickness,  chikungunya,  nephropathia epidemica,  x-linked cerebellar ataxia,  giant hemangioma,  majeed syndrome,  heart aneurysm,  "anemia, sideroblastic, with ataxia" sideroblastic anemia with spinocerebellar ataxia Show all 82
ABCB8 ATP-binding cassette, sub-family B (MDR/TAP), member 8 7q36.1 melanoma,  leukemia,  ulcerative colitis,  colorectal cancer,  acute myeloid leukemia,  myeloid leukemia,  malaria,  breast and colorectal cancer,  tuberculosis,  bare lymphocyte syndrome wegener-like granulomatosis Show all 11
ABCB9 ATP-binding cassette, sub-family B (MDR/TAP), member 9 12q24.31 neuronitis,  thyroiditis,  hiv-1,  tuberculosis,  bare lymphocyte syndrome wegener-like granulomatosis Show all 6
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 16p13.11 lung adenocarcinoma,  endometrial carcinoma,  melanoma,  adenocarcinoma,  prostate cancer,  prostatitis,  neuronitis,  atherosclerosis,  lung cancer,  squamous cell carcinoma,  retinitis,  multiple myeloma,  ovarian cancer,  myeloma,  endotheliitis,  leukemia,  breast cancer,  hepatitis,  psoriasis,  inflammatory bowel disease,  esophagitis,  esophageal squamous cell carcinoma,  pancreatitis,  thyroiditis,  pancreatic cancer,  asthma,  malignant glioma,  hepatocellular carcinoma,  epididymitis,  colorectal cancer,  nasopharyngitis,  glaucoma,  acute myeloid leukemia,  myeloid leukemia,  down syndrome,  transitional cell carcinoma,  retinoblastoma,  rhabdomyosarcoma,  chronic myeloid leukemia,  medulloblastoma,  t-cell leukemia,  oral squamous cell carcinoma,  infertility,  osteosarcoma,  meningioma,  choroiditis,  hodgkins lymphoma,  sarcoma,  renal cell carcinoma,  hypoxia,  gastrointestinal stromal tumor,  myelodysplastic syndromes,  lymphoblastic leukemia,  neuroblastoma,  hypertension,  vascular disease,  rheumatoid arthritis,  arthritis,  kaposis sarcoma,  brain glioma,  malignant mesothelioma,  bladder transitional cell carcinoma,  duodenitis,  "leukemia/lymphoma, t-cell",  leiomyosarcoma,  fibrosarcoma,  testicular cancer,  seminoma,  psoriatic arthritis,  hypoglycemia,  soft tissue sarcoma,  astrocytoma,  childhood leukemia,  wilms tumor,  acute leukemia,  non-hodgkin lymphoma,  colon adenocarcinoma,  thyroid cancer,  glioblastoma multiforme,  cystic fibrosis,  liver disease,  hiv-1,  acute liver failure,  malaria,  breast and colorectal cancer,  cholestasis,  lupus erythematosus,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma,  systemic lupus erythematosus,  chordoma,  stomatitis,  hepatoblastoma,  lung cancer susceptibility,  tuberous sclerosis,  adult t-cell leukemia,  neutropenia,  primary biliary cirrhosis,  desmoplastic small round cell tumor,  fibrous histiocytoma,  histiocytoma,  cytomegalovirus infection,  epithelioid sarcoma,  acute promyelocytic leukemia,  monocytic leukemia,  b-cell lymphomas,  temporal lobe epilepsy,  diffuse large b-cell lymphoma,  microsporidiosis,  leukopenia,  dubin-johnson syndrome,  status epilepticus,  fainting,  intrahepatic cholestasis of pregnancy,  intrahepatic cholestasis,  kernicterus,  renal clear cell carcinoma,  intraocular lymphoma,  nephroblastoma,  core binding factor acute myeloid leukemia,  somatostatin analog,  ewings family of tumors,  pseudoxanthoma elasticum,  cholangiolocellular carcinoma intraocular retinoblastoma Show all 125
ABCC10 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 6p21.1 adenocarcinoma,  lung cancer,  cystic fibrosis,  malaria,  was-related disorders,  hiv/aids cftr-related disorders Show all 7
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 16q12.1 lung cancer,  squamous cell carcinoma,  endotheliitis,  leukemia,  breast cancer,  pancreatitis,  acute myeloid leukemia,  myeloid leukemia,  type 1 diabetes,  rheumatoid arthritis,  arthritis,  laryngitis,  laryngeal squamous cell carcinoma,  cystic fibrosis,  dengue hemorrhagic fever,  hemorrhagic fever,  patent ductus arteriosus dubin-johnson syndrome Show all 18
ABCC12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 16q12.1 breast cancer,  pancreatitis,  cystic fibrosis dubin-johnson syndrome
ABCC13 ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene 21q11.2 leukemia,  hepatitis down syndrome
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 10q24.2 melanoma,  adenocarcinoma,  lung cancer,  squamous cell carcinoma,  multiple myeloma,  ovarian cancer,  myeloma,  endotheliitis,  leukemia,  breast cancer,  cerebritis,  hepatitis,  esophagitis,  ulcerative colitis,  esophageal squamous cell carcinoma,  pancreatitis,  thyroiditis,  pancreatic cancer,  malignant glioma,  hepatocellular carcinoma,  hepatitis c,  colorectal cancer,  neuropathy,  nasopharyngitis,  acute myeloid leukemia,  myeloid leukemia,  germ cell tumors,  retinoblastoma,  chronic myeloid leukemia,  alzheimers disease,  t-cell leukemia,  infertility,  hodgkins lymphoma,  renal cell carcinoma,  lymphoblastic leukemia,  neuroblastoma,  sepsis,  hepatitis c virus,  obesity,  rheumatoid arthritis,  arthritis,  malignant mesothelioma,  duodenitis,  biliary atresia,  adenoma,  diarrhea,  acute leukemia,  non-hodgkin lymphoma,  colon adenocarcinoma,  cystic fibrosis,  liver disease,  hiv-1,  cholestasis,  lupus erythematosus,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma,  systemic lupus erythematosus,  fatty liver disease,  hepatoblastoma,  lung cancer susceptibility,  adult t-cell leukemia,  neutropenia,  primary biliary cirrhosis,  spina bifida,  cholangitis,  sclerosing cholangitis,  primary sclerosing cholangitis,  leukopenia,  factor vii deficiency,  dubin-johnson syndrome,  intrahepatic cholestasis of pregnancy,  intrahepatic cholestasis,  bilirubin metabolic disorder,  rotor syndrome,  obstructive jaundice,  hepatocellular adenoma,  central nervous system lymphoma,  fallopian tube cancer dysembryoplastic neuroepithelial tumor Show all 79
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 17q21.33 lung adenocarcinoma,  adenocarcinoma,  prostatitis,  lung cancer,  squamous cell carcinoma,  retinitis,  leukemia,  breast cancer,  hepatitis,  esophagitis,  pancreatitis,  pancreatic cancer,  malignant glioma,  hepatocellular carcinoma,  hepatitis c,  colorectal cancer,  nasopharyngitis,  acute myeloid leukemia,  myeloid leukemia,  infertility,  osteosarcoma,  sarcoma,  lymphoblastic leukemia,  neuroblastoma,  hepatitis c virus,  malignant mesothelioma,  soft tissue sarcoma,  astrocytoma,  acute leukemia,  colon adenocarcinoma,  glioblastoma multiforme,  cystic fibrosis,  liver disease,  malaria,  cholestasis,  lupus erythematosus,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma,  systemic lupus erythematosus,  lung squamous cell carcinoma,  extrahepatic cholestasis,  barrett esophagus/esophageal adenocarcinoma,  barretts esophagus,  primary biliary cirrhosis,  lynch syndrome,  dubin-johnson syndrome,  bilirubin metabolic disorder,  obstructive jaundice cholangiolocellular carcinoma Show all 49
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 13q32.1 endometriosis,  prostate cancer,  prostatitis,  lung cancer,  retinitis,  endotheliitis,  leukemia,  breast cancer,  hepatitis,  inflammatory bowel disease,  pancreatitis,  pancreatic cancer,  malignant glioma,  hepatocellular carcinoma,  acute myeloid leukemia,  myeloid leukemia,  retinoblastoma,  bipolar disorder,  schizophrenia,  lymphoblastic leukemia,  neuroblastoma,  peritonitis,  kawasaki disease,  obesity,  glioblastoma multiforme,  cystic fibrosis,  liver disease,  acute liver failure,  malaria,  cholestasis,  osteomalacia,  lung cancer susceptibility,  primary biliary cirrhosis,  dubin-johnson syndrome,  bilirubin metabolic disorder hyperuricemia Show all 36
ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 3q27.1 labyrinthitis,  adenocarcinoma,  cervicitis,  lung cancer,  retinitis,  endotheliitis,  leukemia,  breast cancer,  cerebritis,  hepatitis,  cervical cancer,  pancreatitis,  pancreatic cancer,  malignant glioma,  hepatocellular carcinoma,  colorectal cancer,  nasopharyngitis,  acute myeloid leukemia,  myeloid leukemia,  meningioma,  lymphoblastic leukemia,  neuroblastoma,  rheumatoid arthritis,  arthritis,  malignant mesothelioma,  colon adenocarcinoma,  glioblastoma multiforme,  herpes simplex,  cystic fibrosis,  acute liver failure,  mucopolysaccharidoses,  morquio syndrome b,  sly syndrome,  arteriovenous malformation,  dubin-johnson syndrome,  status epilepticus,  benign mesothelioma dysembryoplastic neuroepithelial tumor Show all 38
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 16p13.11 adenocarcinoma,  cervicitis,  retinitis,  multiple myeloma,  myeloma,  leukemia,  breast cancer,  hepatitis,  coronary heart disease,  colorectal cancer,  acute myeloid leukemia,  myeloid leukemia,  hepatitis b,  amyloidosis,  infertility,  choroiditis,  lymphoblastic leukemia,  familial hypercholesterolemia,  vascular disease,  hypercholesterolemia,  myocardial infarction,  acute myocardial infarction,  coronary artery disease,  kidney disease,  type 1 diabetes,  ischemia,  retinal disease,  abdominal aortic aneurysm,  aortic aneurysm,  cystic fibrosis,  generalized arterial calcification of infancy,  arterial calcification of infancy,  nephrolithiasis,  eye disease,  retinitis pigmentosa,  wilson disease,  primary biliary cirrhosis,  retinal drusen,  connective tissue disease,  familial mediterranean fever,  cutis laxa,  dubin-johnson syndrome,  angioid streaks,  "arterial calcification, generalized, of infancy, 1",  pseudoxanthoma elasticum,  elastosis perforans serpiginosa,  acquired pseudoxanthoma elasticum,  "pseudoxanthoma elasticum, forme fruste" "arterial calcification, generalized, of infancy, 2" Show all 49
ABCC6P2 ATP-binding cassette, sub-family C, member 6 pseudogene 2 16p13.11 pseudoxanthoma elasticum
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 11p15.1 adenocarcinoma,  neuronitis,  retinitis,  multiple myeloma,  myeloma,  endotheliitis,  cerebritis,  esophagitis,  pancreatitis,  autosomal dominant disease,  alzheimers disease,  hypoxia,  kidney disease,  type 1 diabetes,  ischemia,  obesity,  diabetes mellitus,  pituitary adenoma,  hypoglycemia,  adenoma,  hyperglycemia,  cystic fibrosis,  malaria,  gestational diabetes,  insulin resistance,  polycystic kidney disease,  stomatitis,  insulinoma,  beckwith-wiedemann syndrome,  usher syndrome,  neonatal diabetes mellitus,  morbid obesity,  hyperinsulinemic hypoglycemia,  "diabetes mellitus, noninsulin-dependent",  fanconi bickel syndrome,  maturity-onset diabetes of the young,  hyperinsulinism,  monogenic diabetes,  glucose intolerance,  hemihypertrophy,  pseudoxanthoma elasticum,  transient neonatal diabetes mellitus,  permanent neonatal diabetes mellitus,  familial hyperinsulinism ,  leucine-sensitive hypoglycemia of infancy,  pancreatic agenesis,  "maturity-onset diabetes of the young, type 1",  acute insulin response,  "diabetes mellitus, 6q24-related transient neonatal",  "diabetes, permanent neonatal",  "hyperinsulinism, focal",  abcc8-related hyperinsulinism,  abcc8-related permanent neonatal diabetes mellitus,  abcc8-related transient neonatal diabetes mellitus 2,  "hyperinsulinemic hypoglycemia, familial, 1" "diabetes mellitus, transient neonatal 2" Show all 56
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 12p12.1 neuronitis,  multiple myeloma,  myeloma,  pancreatitis,  epididymitis,  osteochondrodysplasia,  brachydactyly,  alzheimers disease,  choroiditis,  hypoxia,  hypertension,  thromboembolism,  myocardial infarction,  acute myocardial infarction,  essential hypertension,  ischemia,  obesity,  diabetes mellitus,  dilated cardiomyopathy,  hypertrichosis,  pulmonary function,  intellectual disability,  hypotonia,  hypokalemic periodic paralysis,  syncope,  congestive heart failure,  patent ductus arteriosus,  familial atrial fibrillation,  pseudoxanthoma elasticum,  "cardiomyopathy, dilated, 1w",  acromegaloid facial appearance syndrome,  coronary artery vasospasm,  abcc9-related familial atrial fibrillation,  "cardiomyopathy, dilated, 1o",  abcc9-related dilated cardiomyopathy,  cantu syndrome "atrial fibrillation, familial, 12" Show all 37
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 Xq28 multiple myeloma,  myeloma,  cerebritis,  blindness,  thyroiditis,  alzheimers disease,  renal cell carcinoma,  bipolar disorder,  schizophrenia,  ataxia,  multiple sclerosis,  protein s deficiency,  spasticity,  tuberculosis,  leukodystrophy,  neurologic diseases,  dementia,  zellweger syndrome,  tangier disease,  adrenomyeloneuropathy,  adrenoleukodystrophy,  peroxisome disorders,  spinocerebellar degeneration,  addisons disease,  spastic paraparesis,  hemophilia,  peroxisomal disease,  cortical blindness,  "deafness, dystonia, and cerebral hypomyelination" "adrenomyeloneuropathy, adult" Show all 30
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 cerebritis,  pancreatitis,  thyroiditis,  pancreatic cancer,  malaria,  protein s deficiency,  tuberculosis,  neurologic diseases,  zellweger syndrome,  adrenoleukodystrophy peroxisomal disease Show all 11
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3 1p21.3 labyrinthitis,  prostatitis,  neuronitis,  endotheliitis,  cerebritis,  thyroiditis,  tonsillitis,  malaria,  protein s deficiency,  tuberculosis,  zellweger syndrome,  adrenoleukodystrophy peroxisomal disease Show all 13
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 14q24.3 multiple myeloma,  myeloma,  ataxia,  cholestasis,  tuberculosis,  hypotonia,  adrenoleukodystrophy,  homocystinuria,  peroxisomal disease,  intrahepatic cholestasis,  disorders of intracellular cobalamin metabolism,  ceroid lipofuscinosis neuronal 2,  cbij "methylmalonic aciduria and homocystinuria, cblj type" Show all 14
ABCE1 ATP-binding cassette, sub-family E (OABP), member 1 4q31.21 lung adenocarcinoma,  adenocarcinoma,  prostate cancer,  prostatitis,  lung cancer,  endotheliitis,  cerebritis,  thyroiditis,  neuropathy,  tonsillitis,  pneumonia,  hiv-1,  malaria,  ulnar neuropathy median neuropathy Show all 15
ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 6p21.33 chronic lymphocytic leukemia,  lung cancer,  leukemia,  esophagitis,  pancreatitis,  graves disease,  hiv-1,  malaria,  lupus erythematosus,  systemic lupus erythematosus,  tuberculosis,  ankylosing spondylitis,  spondylitis,  autoimmune pancreatitis eosinophilic esophagitis Show all 15
ABCF2 ATP-binding cassette, sub-family F (GCN20), member 2 7q36.1 adenocarcinoma,  ovarian cancer,  leukemia,  breast cancer,  cerebritis,  hepatitis,  glaucoma,  acute myeloid leukemia,  myeloid leukemia,  cystic fibrosis,  malaria,  tuberculosis clear cell adenocarcinoma Show all 13
ABCF3 ATP-binding cassette, sub-family F (GCN20), member 3 3q27.1 major depressive disorder,  malaria,  tuberculosis west nile virus
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 21q22.3 prostate cancer,  prostatitis,  neuronitis,  atherosclerosis,  lung cancer,  squamous cell carcinoma,  ovarian cancer,  endotheliitis,  breast cancer,  hepatitis,  blindness,  alzheimers disease,  neuroblastoma,  hypertension,  ischemic heart disease,  hypercholesterolemia,  myocardial infarction,  coronary artery disease,  obesity,  diabetes mellitus,  malaria,  tuberculosis,  neurologic diseases,  insulinoma,  tangier disease,  blue color blindness,  color blindness,  autosomal recessive nonsyndromic deafness,  nonsyndromic deafness,  pulmonary alveolar proteinosis sitosterolemia Show all 31
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 4q22.1 lung adenocarcinoma,  endometriosis,  endometrial carcinoma,  melanoma,  adenocarcinoma,  prostate cancer,  prostatitis,  cervicitis,  atherosclerosis,  lung cancer,  squamous cell carcinoma,  multiple myeloma,  ovarian cancer,  myeloma,  endotheliitis,  leukemia,  breast cancer,  cerebritis,  hepatitis,  dental caries,  cervical cancer,  psoriasis,  inflammatory bowel disease,  esophagitis,  ulcerative colitis,  esophageal squamous cell carcinoma,  pancreatitis,  thyroiditis,  pancreatic cancer,  malignant glioma,  hepatocellular carcinoma,  hepatitis c,  colorectal cancer,  nasopharyngitis,  acute myeloid leukemia,  myeloid leukemia,  gout,  retinoblastoma,  oral cancer,  rhabdomyosarcoma,  chronic myeloid leukemia,  alzheimers disease,  osteosarcoma,  choroiditis,  hodgkins lymphoma,  sarcoma,  renal cell carcinoma,  hypoxia,  gastrointestinal stromal tumor,  lymphoblastic leukemia,  myocardial infarction,  acute myocardial infarction,  coronary artery disease,  hepatitis c virus,  ischemia,  obesity,  rheumatoid arthritis,  arthritis,  acute lymphocytic leukemia,  fibrosarcoma,  soft tissue sarcoma,  diarrhea,  acute leukemia,  non-hodgkin lymphoma,  thyroid cancer,  glioblastoma multiforme,  cystic fibrosis,  multiple sclerosis,  hiv-1,  cholestasis,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma,  cardiovascular disease risk factor,  choriocarcinoma,  intellectual disability,  neurologic diseases,  hepatoblastoma,  brain cancer,  neutropenia,  malignant pleural mesothelioma,  neuroendocrine carcinoma,  breast adenocarcinoma,  mantle cell lymphoma,  placental choriocarcinoma,  toxic encephalopathy,  b-cell lymphomas,  oral lichen planus,  lichen planus,  diffuse large b-cell lymphoma,  hyperuricemia,  gilbert syndrome,  core binding factor acute myeloid leukemia,  nonpapillary renal cell carcinoma,  somatostatin analog,  adult acute lymphocytic leukemia,  central nervous system lymphoma,  cerebral amyloid angiopathy,  dysembryoplastic neuroepithelial tumor,  erythroplakia persistent fetal circulation syndrome Show all 100
ABCG4 ATP-binding cassette, sub-family G (WHITE), member 4 11q23.3 atherosclerosis,  retinitis,  cerebritis,  down syndrome,  pneumonia,  retinal degeneration,  cystic fibrosis,  tuberculosis,  zellweger syndrome,  tangier disease,  adrenoleukodystrophy,  dubin-johnson syndrome cone-rod dystrophy Show all 13
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 2p21 atherosclerosis,  multiple myeloma,  myeloma,  breast cancer,  hepatitis,  coronary heart disease,  colorectal cancer,  alzheimers disease,  hypertension,  familial hypercholesterolemia,  hypercholesterolemia,  coronary artery disease,  malaria,  thrombocytopenia,  insulin resistance,  cholelithiasis,  aortic atherosclerosis,  tangier disease sitosterolemia Show all 19
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 2p21 atherosclerosis,  lung cancer,  multiple myeloma,  myeloma,  breast cancer,  hepatitis,  coronary heart disease,  colorectal cancer,  hypertension,  familial hypercholesterolemia,  vascular disease,  hypercholesterolemia,  coronary artery disease,  kidney disease,  gallbladder cancer,  thrombocytopenia,  insulin resistance,  lung cancer susceptibility,  cholelithiasis,  aortic atherosclerosis,  gallbladder disease,  sitosterolemia,  "nemaline myopathy 1, autosomal dominant or recessive" gallbladder disease 4 Show all 24
ABHD1 abhydrolase domain containing 1 2p23.3 meningitis
ABHD10 abhydrolase domain containing 10 3q13.2 hepatocellular carcinoma
ABHD11 abhydrolase domain containing 11 7q11.23 lung adenocarcinoma,  adenocarcinoma,  multiple myeloma,  myeloma,  malaria williams-beuren syndrome Show all 6
ABHD12 abhydrolase domain containing 12 20p11.21 retinitis,  multiple myeloma,  myeloma,  peripheral neuropathy,  neuropathy,  sensorineural hearing loss,  ataxia,  polyneuropathy,  cataract,  malaria,  spasticity,  retinitis pigmentosa,  usher syndrome,  refsum disease,  usher syndrome type 3 "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" Show all 16
ABHD12B abhydrolase domain containing 12B 14q22.1 colorectal cancer,  breast and colorectal cancer pulmonary function
ABHD13 abhydrolase domain containing 13 13q33.3 malaria,  tuberculosis conduct disorder
ABHD14A abhydrolase domain containing 14A 3p21.2 neuronitis,  hepatitis,  viral hepatitis,  isovaleric acidemia biotinidase deficiency
ABHD14A-ACY1 ABHD14A-ACY1 readthrough (NMD candidate) 3p21.2 cerebritis
ABHD14B abhydrolase domain containing 14B 3p21.2 prostatitis
ABHD16A abhydrolase domain containing 16A 6p21.33 leukemia,  meningioma,  kawasaki disease,  rheumatoid arthritis,  arthritis,  childhood leukemia,  malaria,  lupus erythematosus,  systemic lupus erythematosus,  lynch syndrome coronary artery aneurysm Show all 11
ABHD17B abhydrolase domain containing 17B 9q21.13 malaria
ABHD17C abhydrolase domain containing 17C 15q25.1 smallpox
ABHD2 abhydrolase domain containing 2 15q26.1 choroiditis,  obesity malaria
ABHD3 abhydrolase domain containing 3 18q11.2 choroiditis malaria
ABHD4 abhydrolase domain containing 4 14q11.2 malaria
ABHD5 abhydrolase domain containing 5 3p21.33 neuronitis,  multiple myeloma,  myeloma,  endotheliitis,  cerebritis,  hepatitis,  obesity,  cataract,  liver cirrhosis,  myopathy,  vesiculitis,  n syndrome,  systemic primary carnitine deficiency disease,  neutral lipid storage disease,  lipid storage disease,  congenital ichthyosiform erythroderma ectropion Show all 17
ABHD6 abhydrolase domain containing 6 3p14.3 endotheliitis,  pancreatitis,  hypercholesterolemia,  diarrhea,  cystic fibrosis,  panniculitis,  alcohol abuse,  steatorrhea,  acinar cell carcinoma,  intestinal obstruction,  wolman disease,  exocrine pancreatic insufficiency,  gallbladder disease,  choledochal cyst,  pancreatic steatorrhea,  familial hyperlipidemia,  botulism,  pityriasis versicolor,  infant botulism,  afferent loop syndrome cholesterol ester storage disease Show all 21
ABHD8 abhydrolase domain containing 8 19p13.11 breast cancer
ABI1 abl-interactor 1 10p12.1 melanoma,  prostatitis,  neuronitis,  multiple myeloma,  ovarian cancer,  myeloma,  endotheliitis,  leukemia,  breast cancer,  cerebritis,  thyroiditis,  hepatocellular carcinoma,  acute myeloid leukemia,  myeloid leukemia,  cblc,  alzheimers disease,  ataxia,  tonsillitis,  noma,  acute leukemia,  monocytic leukemia,  acute monocytic leukemia,  human granulocytic anaplasmosis "thrombophilia, x-linked, due to factor ix defect" Show all 24
ABI2 abl-interactor 2 2q33.2 neuronitis,  atherosclerosis,  leukemia,  dental caries,  acute myeloid leukemia,  myeloid leukemia,  leiomyoma,  schizophrenia,  hypertension primary pulmonary hypertension Show all 10
ABI3 ABI family, member 3 17q21.32 chronic lymphocytic leukemia,  prostate cancer,  prostatitis,  leukemia,  acute myeloid leukemia myeloid leukemia Show all 6
ABI3BP ABI family, member 3 (NESH) binding protein 3q12.2 mood disorder,  lung cancer,  endotheliitis,  hepatitis thyroiditis
ABL1 c-abl oncogene 1, non-receptor tyrosine kinase 9q34.12 chondrosarcoma,  endometrial carcinoma,  chronic lymphocytic leukemia,  melanoma,  adenocarcinoma,  prostate cancer,  prostatitis,  neuronitis,  lung cancer,  squamous cell carcinoma,  multiple myeloma,  ovarian cancer,  myeloma,  endotheliitis,  leukemia,  breast cancer,  hepatitis,  hematopoietic stem cell transplantation,  esophagitis,  pancreatitis,  thyroiditis,  pancreatic cancer,  colorectal cancer,  myeloproliferative disorder,  lissencephaly,  eosinophilia,  acute myeloid leukemia,  myeloid leukemia,  peripheral t-cell lymphoma,  cblc,  transitional cell carcinoma,  retinoblastoma,  chronic myeloid leukemia,  alzheimers disease,  t-cell leukemia,  oral squamous cell carcinoma,  hodgkins lymphoma,  sarcoma,  wiskott-aldrich syndrome,  gastrointestinal stromal tumor,  polycythemia,  myelodysplastic syndromes,  lymphoblastic leukemia,  peritonitis,  ataxia,  myocarditis,  parkinsons disease,  pneumonia,  essential thrombocythemia,  "leukemia/lymphoma, t-cell",  acute lymphocytic leukemia,  wilms tumor,  acute leukemia,  non-hodgkin lymphoma,  thyroid cancer,  esophageal cancer,  hiv-1,  hypereosinophilic syndrome,  tuberculosis,  sporadic breast cancer,  hepatoblastoma,  fanconis anemia,  shigellosis,  rheumatic disease,  was-related disorders,  severe combined immunodeficiency,  precursor b-cell acute lymphoblastic leukemia,  vaccinia,  burkitts lymphoma,  monocytic leukemia,  ataxia telangiectasia,  precursor t-cell acute lymphoblastic leukemia,  lymphoid leukemia,  werner syndrome,  polycythemia vera,  rhabdoid tumor,  chronic myeloproliferative disease,  lymphosarcoma,  uterine sarcoma,  alexia,  dermatofibrosarcoma,  dermatofibrosarcoma protuberans,  cockayne syndrome,  bone marrow cancer,  acute biphenotypic leukemia,  philadelphia-negative chronic myeloid leukemia "leukemia, philadelphia chromosome-positive, resistant to imatinib" Show all 87
ABL2 c-abl oncogene 2, non-receptor tyrosine kinase 1q25.2 melanoma,  adenocarcinoma,  neuronitis,  lung cancer,  endotheliitis,  leukemia,  breast cancer,  cerebritis,  colorectal cancer,  myeloproliferative disorder,  eosinophilia,  myeloid leukemia,  chronic myeloid leukemia,  alzheimers disease,  myocarditis,  adenoma,  gastric adenocarcinoma,  thymoma,  allergic rhinitis,  rhinitis "leukemia, acute myeloid, with eosinophilia" Show all 21
ABLIM1 actin binding LIM protein 1 10q25.3 prostate cancer,  prostatitis,  alzheimers disease,  obesity,  corneal neovascularization,  sinusitis,  malaria,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma alcohol dependence Show all 10
ABLIM2 actin binding LIM protein family, member 2 4p16.1 cerebritis,  pancreatitis,  pancreatic cancer hepatoblastoma
ABLIM3 actin binding LIM protein family, member 3 5q32 endotheliitis,  hepatitis hepatoblastoma
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 9q34.2 atherosclerosis,  squamous cell carcinoma,  myeloma,  leukemia,  breast cancer,  cerebritis,  hematopoietic stem cell transplantation,  attention deficit hyperactivity disorder,  pancreatitis,  thyroiditis,  pancreatic cancer,  asthma,  colorectal cancer,  graves disease,  myeloid leukemia,  oral cancer,  chronic myeloid leukemia,  oral squamous cell carcinoma,  pre-eclampsia,  eclampsia,  hypertension,  venous thrombosis,  thromboembolism,  venous thromboembolism,  gigantism,  myocardial infarction,  coronary artery disease,  obesity,  duodenal ulcer,  peptic ulcer,  duodenitis,  muscular dystrophy,  acute leukemia,  liver cirrhosis,  cystic fibrosis,  liver disease,  malaria,  thrombocytopenia,  fatty liver disease,  calcinosis,  cholera,  acne,  gastritis,  atrophic gastritis,  smallpox,  plasmodium falciparum malaria,  exostosis,  von willebrands disease,  congenital muscular dystrophy,  hiv/aids,  nail-patella syndrome blood group incompatibility Show all 52
ABR active BCR-related 17p13.3 lissencephaly,  medulloblastoma,  malaria,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma,  enamel erosion,  miller-dieker syndrome placenta praevia Show all 8
ABRA actin-binding Rho activating protein 8q23.1 retinitis,  endotheliitis,  cerebritis,  dental caries,  malaria,  retinal drusen,  mediastinitis,  cerebral amyloid angiopathy granulomatous angiitis Show all 9
ABRACL ABRA C-terminal like 6q24.1 cerebritis
ABT1 activator of basal transcription 1 6p22.2 neuronitis,  lung cancer,  leukemia,  alzheimers disease,  t-cell leukemia,  hodgkins lymphoma,  ataxia,  essential thrombocythemia,  non-hodgkin lymphoma,  malaria,  spinocerebellar ataxia,  lupus erythematosus,  systemic lupus erythematosus,  rabies,  cholera,  spinocerebellar ataxia type 17,  roberts syndrome neuronal intranuclear inclusion disease Show all 18
ABTB1 ankyrin repeat and BTB (POZ) domain containing 1 3q21.3 cervicitis
ABTB2 ankyrin repeat and BTB (POZ) domain containing 2 11p13 malaria
ACAA1 acetyl-CoA acyltransferase 1 3p22.2 chronic lymphocytic leukemia,  prostate cancer,  prostatitis,  multiple myeloma,  myeloma,  leukemia,  cerebritis,  asthma,  chondrodysplasia,  meningioma,  hypoxia,  childhood leukemia,  tuberculosis,  ketothiolase deficiency,  beta-ketothiolase deficiency,  zellweger syndrome,  adrenoleukodystrophy,  dermatomyositis,  end stage renal failure,  rhizomelic chondrodysplasia punctata,  refsum disease,  infantile refsum disease thiolase deficiency Show all 23
ACAA2 acetyl-CoA acyltransferase 2 18q21.1 labyrinthitis,  breast cancer,  cerebritis,  chondrodysplasia,  choroiditis,  malaria,  tuberculosis,  ketothiolase deficiency,  beta-ketothiolase deficiency,  zellweger syndrome,  adrenoleukodystrophy,  mutism,  rhizomelic chondrodysplasia punctata akinetic mutism Show all 14
ACACA acetyl-CoA carboxylase alpha 17q12 prostate cancer,  prostatitis,  neuronitis,  multiple myeloma,  ovarian cancer,  myeloma,  endotheliitis,  breast cancer,  cerebritis,  hepatitis,  pancreatitis,  thyroiditis,  colorectal cancer,  liposarcoma,  hypoxia,  hypertension,  ataxia,  ischemia,  obesity,  myopathy,  liver disease,  hiv-1,  malaria,  breast and colorectal cancer,  fatty liver disease,  insulin resistance,  tuberculosis,  uremia,  multiple carboxylase deficiency,  biotin deficiency,  hypobetalipoproteinemia,  juvenile astrocytoma acetyl-coa carboxylase deficiency Show all 33
ACACB acetyl-CoA carboxylase beta 12q24.11 prostate cancer,  prostatitis,  pancreatitis,  pancreatic cancer,  proteinuria,  alzheimers disease,  hypoxia,  obesity,  diabetic nephropathy,  liver disease,  hiv-1,  fatty liver disease,  anorexia nervosa,  insulin resistance biotin deficiency Show all 15
ACAD10 acyl-CoA dehydrogenase family, member 10 12q24.12 squamous cell carcinoma,  breast cancer,  esophagitis,  esophageal squamous cell carcinoma,  coronary artery disease,  insulin resistance,  tuberculosis sporadic breast cancer Show all 8
ACAD11 acyl-CoA dehydrogenase family, member 11 3q22.1 leukemia,  hepatitis,  hepatitis b,  meningioma,  neuroblastoma,  childhood leukemia tuberculosis Show all 7
ACAD8 acyl-CoA dehydrogenase family, member 8 11q25 labyrinthitis,  prostatitis,  multiple myeloma,  myeloma,  endotheliitis,  cerebritis,  thyroiditis,  alzheimers disease,  choroiditis,  obesity,  tonsillitis,  dilated cardiomyopathy,  tuberculosis isobutyryl-coa dehydrogenase deficiency Show all 14
ACAD9 acyl-CoA dehydrogenase family, member 9 3q21.3 multiple myeloma,  myeloma,  endotheliitis,  cerebritis,  dental caries,  tuberculosis,  pulmonary function,  mitochondrial complex i deficiency ,  acad9 deficiency acyl-coa dehydrogenase 9 deficiency Show all 10
ACADL acyl-CoA dehydrogenase, long chain 2q34 labyrinthitis,  neuronitis,  multiple myeloma,  myeloma,  cerebritis,  pancreatitis,  hypoglycemia,  myopathy,  liver disease,  fatty liver disease,  tuberculosis,  hypotonia,  sudden infant death syndrome,  fatty acid oxidation disorders,  mixed endometrial stromal and smooth muscle tumor,  very long-chain acyl-coenzyme a dehydrogenase deficiency lcad deficiency Show all 17
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1p31.1 multiple myeloma,  myeloma,  cerebritis,  hepatitis,  thyroiditis,  colorectal cancer,  hypoxia,  hypertension,  obesity,  tonsillitis,  hypoglycemia,  cystic fibrosis,  liver disease,  acute liver failure,  malaria,  breast and colorectal cancer,  fatty liver disease,  tuberculosis,  intellectual disability,  congenital hypothyroidism,  hypothyroidism,  congenital adrenal hyperplasia,  sudden infant death syndrome,  phenylketonuria,  galactosemia,  autosomal recessive disease,  reye syndrome,  medium-chain acyl-coenzyme a dehydrogenase deficiency,  short-chain acyl-coa dehydrogenase deficiency,  multiple carboxylase deficiency,  fatty acid oxidation disorders,  fasting hypoglycemia,  alcoholic cardiomyopathy very long-chain acyl-coenzyme a dehydrogenase deficiency Show all 34
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 12q24.31 multiple myeloma,  myeloma,  cerebritis,  hepatitis,  ulcerative colitis,  thyroiditis,  axonal neuropathy,  neuropathy,  vitiligo,  obesity,  diabetes mellitus,  angina pectoris,  hypoglycemia,  myopathy,  malaria,  tuberculosis,  hyperargininemia,  hypotonia,  hepatoblastoma,  autoimmune thyroiditis,  sudden infant death syndrome,  malignant hyperthermia,  ophthalmoplegia,  3-methylcrotonyl-coa carboxylase deficiency,  diverticulitis,  prader-willi syndrome,  mitochondrial disorders,  short-chain acyl-coa dehydrogenase deficiency,  fatty acid oxidation disorders,  riboflavin deficiency ,  multiple acyl-coa dehydrogenase deficiency,  systemic primary carnitine deficiency disease,  ethylmalonic encephalopathy,  ehlers-danlos syndrome,  isovaleric acidemia,  carotid artery dissection infantile hypotonia Show all 37
ACADSB acyl-CoA dehydrogenase, short/branched chain 10q26.13 multiple myeloma,  myeloma,  cerebritis,  alzheimers disease,  mental retardation,  hypertension,  malaria,  tuberculosis,  ketothiolase deficiency,  beta-ketothiolase deficiency,  propionic acidemia,  isovaleric acidemia 2-methylbutyryl-coa dehydrogenase deficiency Show all 13
ACADVL acyl-CoA dehydrogenase, very long chain 17p13.1 cervicitis,  squamous cell carcinoma,  multiple myeloma,  myeloma,  cerebritis,  pericardial effusion,  hypoglycemia,  myopathy,  malaria,  tuberculosis,  respiratory failure,  hyperargininemia,  hypertrophic cardiomyopathy,  sudden infant death syndrome,  vitamin b12 deficiency,  autosomal recessive disease,  cervical squamous cell carcinoma,  fatty acid oxidation disorders,  systemic primary carnitine deficiency disease,  carnitine palmitoyltransferase ii deficiency,  3-hydroxyacyl-coa dehydrogenase deficiency,  mixed endometrial stromal and smooth muscle tumor,  myoglobinuria recurrent very long-chain acyl-coenzyme a dehydrogenase deficiency Show all 24
ACAN aggrecan 15q26.1 achondroplasia,  skeletal dysplasias,  chondrosarcoma,  melanoma,  neuronitis,  cervicitis,  squamous cell carcinoma,  multiple myeloma,  myeloma,  endotheliitis,  cerebritis,  dwarfism,  osteochondrodysplasia,  short stature,  brachydactyly,  chondrodysplasia,  alzheimers disease,  hypoxia,  schizophrenia,  rheumatoid arthritis,  arthritis,  pleomorphic adenoma,  laryngitis,  synovitis,  laryngeal squamous cell carcinoma,  spinal cord injury,  adenoma,  osteoarthritis,  arthropathy,  neurologic diseases,  tuberous sclerosis,  mucopolysaccharidoses,  morquio syndrome b,  sly syndrome,  spinal stenosis,  ankylosing spondylitis,  spondylitis,  progeria,  exostosis,  multiple epiphyseal dysplasia,  pseudoachondroplasia,  tendinopathy,  exotropia,  osteochondritis dissecans,  odontogenic myxoma,  osteochondrosis,  spondyloepimetaphyseal dysplasia,  autosomal dominant neovascular inflammatory vitreoretinopathy,  familial osteochondritis dissecans,  "spondyloepimetaphyseal dysplasia, aggrecan type",  "spondyloepiphyseal dysplasia, kimberley type" macrocephaly with multiple epiphyseal dysplasia and distinctive facies Show all 52
ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 17p13.1 colorectal cancer,  pituitary adenoma,  adenoma breast and colorectal cancer
ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 3q29 sarcoma,  kaposis sarcoma,  malaria,  vaccinia cowpox
ACAT1 acetyl-CoA acetyltransferase 1 11q22.3 prostatitis,  neuronitis,  cervicitis,  multiple myeloma,  myeloma,  endotheliitis,  breast cancer,  cerebritis,  cervical cancer,  thyroiditis,  alzheimers disease,  mental retardation,  neuroblastoma,  hypertension,  ataxia,  hypercholesterolemia,  tonsillitis,  malaria,  tuberculosis,  metabolic acidosis,  dementia,  muscular atrophy,  spinal muscular atrophy,  ketothiolase deficiency,  beta-ketothiolase deficiency,  ataxia telangiectasia,  hypertriglyceridemia,  organic acidemia,  the organic acidemias: an,  sitosterolemia,  thiolase deficiency lipid metabolism disorder Show all 32
ACAT2 acetyl-CoA acetyltransferase 2 6q25.3 labyrinthitis,  prostatitis,  cervicitis,  atherosclerosis,  lung cancer,  cerebritis,  hepatitis,  ulcerative colitis,  thyroiditis,  coronary heart disease,  down syndrome,  mental retardation,  renal cell carcinoma,  hypertension,  hypercholesterolemia,  coronary artery disease,  kidney disease,  obesity,  tonsillitis,  malaria,  insulin resistance,  tuberculosis,  dementia,  ketothiolase deficiency,  beta-ketothiolase deficiency,  acetyl coa acetyltransferase 2 deficiency thiolase deficiency Show all 27
ACBD3 acyl-CoA binding domain containing 3 1q42.12 prostatitis,  neuronitis,  cerebritis,  thyroiditis,  tonsillitis,  malaria carney complex Show all 7
ACBD4 acyl-CoA binding domain containing 4 17q21.31 hepatoblastoma
ACBD5 acyl-CoA binding domain containing 5 10p12.1 alzheimers disease thrombocytopenia
ACBD6 acyl-CoA binding domain containing 6 1q25.3 endotheliitis
ACBD7 acyl-CoA binding domain containing 7 10p13 obesity malaria
ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 11p11.2 adenocarcinoma,  esophagitis,  pancreatitis,  colorectal cancer,  adenoiditis,  hypoxia,  adrenocortical carcinoma,  adenoid cystic carcinoma,  breast and colorectal cancer,  pancreatic acinar cell adenocarcinoma,  lung adenoid cystic carcinoma cutaneous adenocystic carcinoma Show all 12
ACD adrenocortical dysplasia homolog (mouse) 16q22.1 chronic lymphocytic leukemia,  leukemia,  breast cancer,  ataxia,  cerebrovascular disease,  obesity,  laryngitis hydronephrosis Show all 8
ACE angiotensin I converting enzyme 17q23.3 endometriosis,  mood disorder,  hyperparathyroidism,  adenocarcinoma,  prostate cancer,  prostatitis,  neuronitis,  cervicitis,  atherosclerosis,  lung cancer,  squamous cell carcinoma,  retinitis,  multiple myeloma,  ovarian cancer,  myeloma,  endotheliitis,  leukemia,  breast cancer,  cerebritis,  hepatitis,  bronchopulmonary dysplasia,  congenital diaphragmatic hernia,  psoriasis,  periodontitis,  inflammatory bowel disease,  esophagitis,  blindness,  ulcerative colitis,  pancreatitis,  pancreatic cancer,  asthma,  hepatocellular carcinoma,  epididymitis,  coronary heart disease,  hepatitis c,  intracranial aneurysm,  major depressive disorder,  colorectal cancer,  peripheral neuropathy,  neuropathy,  nasopharyngitis,  vitiligo,  graves disease,  crohns disease,  cavernous malformation,  cerebral cavernous malformation,  eosinophilia,  glaucoma,  acute myeloid leukemia,  myeloid leukemia,  hepatitis b,  hydrocephalus,  hypercalcemia,  sleep apnea,  proteinuria,  leiomyoma,  oral cancer,  alzheimers disease,  infertility,  choroiditis,  renal cell carcinoma,  hypoxia,  bipolar disorder,  schizophrenia,  pre-eclampsia,  eclampsia,  thrombophilia,  polycythemia,  peritonitis,  hypertension,  carotid intimal medial thickness,  chronic thromboembolic pulmonary hypertension,  pulmonary embolism,  portal hypertension,  peripheral vascular disease,  venous thrombosis,  thromboembolism,  retinal vein occlusion,  pregnancy loss,  familial hypercholesterolemia,  venous thromboembolism,  ischemic heart disease,  vascular disease,  cerebrovascular disease,  hyperhomocysteinemia,  sickle cell disease,  kawasaki disease,  age related macular degeneration,  hypercholesterolemia,  lupus nephritis,  myocarditis,  myocardial infarction,  nephritis,  acute myocardial infarction,  polyneuropathy,  migraine,  coronary artery disease,  sepsis,  kidney disease,  essential hypertension,  type 1 diabetes,  hepatitis c virus,  ischemia,  obesity,  diabetes mellitus,  rheumatoid arthritis,  parkinsons disease,  arthritis,  intermittent claudication,  arteriosclerosis obliterans,  critical limb ischemia,  diabetic retinopathy,  hypertensive heart disease,  proliferative diabetic retinopathy,  cor pulmonale,  breast cyst,  memory impairment,  lymphangioleiomyomatosis,  arteriosclerosis,  retinopathy of prematurity,  pneumonia,  gingival overgrowth,  burns,  glomerulonephritis,  gingivitis,  angina pectoris,  duchenne muscular dystrophy,  sinusitis,  psoriatic arthritis,  cataract,  hypoglycemia,  behcets disease,  osteoarthritis,  pancreatic ductal adenocarcinoma,  abdominal aortic aneurysm,  aortic aneurysm,  idiopathic pulmonary fibrosis,  brain disease,  purpura,  diarrhea,  scleroderma,  conjunctivitis,  muscular dystrophy,  pulmonary fibrosis,  pheochromocytoma,  liver cirrhosis,  hyperglycemia,  osteoporosis,  diabetic nephropathy,  cystic fibrosis,  liver disease,  multiple sclerosis,  severe acute respiratory syndrome,  malaria,  primary pulmonary hypertension,  coronary stenosis,  acute myocarditis,  adult respiratory distress syndrome,  nephrotic syndrome,  dilated cardiomyopathy,  type 1 diabetes mellitus,  septic shock,  cholestasis,  lupus erythematosus,  systemic lupus erythematosus,  acute pancreatitis,  uveitis,  atopy,  fatty liver disease,  gestational diabetes,  insulin resistance,  alcohol dependence,  tuberculosis,  generalized arterial calcification of infancy,  arterial calcification of infancy,  primary hyperparathyroidism,  metabolic acidosis,  cardiovascular disease risk factor,  acromegaly,  polycystic kidney disease,  vesicoureteral reflux,  pulmonary edema,  respiratory failure,  pulmonary function,  exophthalmos,  acne,  fabry disease,  gauchers disease,  dementia,  gastritis,  fanconis anemia,  hypothyroidism,  endometritis,  otosclerosis,  arrhythmogenic right ventricular dysplasia,  hyperandrogenism,  polycystic ovary syndrome,  varicocele,  male infertility,  myotonic dystrophy,  myasthenia gravis,  hypertrophic cardiomyopathy,  ankylosing spondylitis,  spondylitis,  focal segmental glomerulosclerosis,  trypanosomiasis,  aortic atherosclerosis,  familial adenomatous polyposis,  atrophic gastritis,  bronchitis,  sleep disorder,  diabetes insipidus,  paraplegia,  dermatitis,  tardive dyskinesia,  cerebral atherosclerosis,  paine syndrome,  syncope,  ovarian hyperstimulation syndrome,  cystinosis,  oligohydramnios,  onchocerciasis,  hemochromatosis,  uremia,  diabetic neuropathy,  cutaneous t cell lymphoma,  malignant hypertension,  hypertriglyceridemia,  cutaneous lupus erythematosus,  connective tissue disease,  allergic rhinitis,  rhinitis,  congestive heart failure,  temporal lobe epilepsy,  aspiration pneumonia,  rheumatic fever,  familial hypertrophic cardiomyopathy,  urethritis,  familial mediterranean fever,  spondylarthropathy,  pemphigus foliaceus,  chagas disease,  sarcoidosis,  juvenile rheumatoid arthritis,  pulmonary sarcoidosis,  pemphigus,  headache,  wegeners granulomatosis,  membranous glomerulonephritis,  steroid-resistant nephrotic syndrome,  hepatopulmonary syndrome,  panic disorder,  interstitial lung disease,  subacute cutaneous lupus erythematosus,  systemic scleroderma,  fibromuscular dysplasia,  angioedema,  contact dermatitis,  urticaria,  pulmonary tuberculosis,  aggressive periodontitis,  polycythemia vera,  cardiac sarcoidosis,  obstructive lung disease,  primary open angle glaucoma,  open-angle glaucoma,  psychotic disorder,  carotid stenosis,  morbid obesity,  brain injury,  posterior urethral valves,  posterior urethral valve,  left ventricular outflow tract obstruction,  mitral valve prolapse,  nephrosclerosis,  anuria,  mitral valve disease,  renal tubular dysgenesis,  diastolic heart failure,  aortic coarctation,  acute mountain sickness,  hyperaldosteronism,  renovascular hypertension,  nonarteritic anterior ischemic optic neuropathy,  ischemic optic neuropathy,  interstitial nephritis,  erythrocytosis,  end stage renal failure,  subacute sclerosing panencephalitis,  vascular dementia,  traumatic brain injury,  renal vascular disease,  aortic valve stenosis,  systolic heart failure,  thoracic aortic aneurysm,  chromophobe renal cell carcinoma,  silicosis,  pyelonephritis,  retinal artery occlusion,  hypokalemia,  "obesity, association with",  nephropathy-hypertension,  urinary tract obstruction,  migraine with aura,  hypoalphalipoproteinemia,  carotid artery disease,  renal hypertension,  histoplasmosis,  hepatitis a,  sickle cell anemia,  glucose intolerance,  allergic contact dermatitis,  food allergy,  normal pressure hydrocephalus,  "polycystic kidney disease, type 1",  osteonecrosis,  cerebral malaria,  tropical calcific pancreatitis,  nephrosis,  pancytopenia,  eosinophilic pneumonia,  pneumothorax,  coronary restenosis,  iga glomerulonephritis,  complex regional pain syndrome,  arteriovenous fistula,  intestinal tuberculosis,  hepatorenal syndrome,  focal glomerulosclerosis,  mitral valve insufficiency,  syndrome of inappropriate antidiuretic hormone,  transposition of the great arteries,  hypoaldosteronism,  low renin hypertension,  cancer-associated retinopathy,  cerebral amyloid angiopathy,  intermediate coronary syndrome,  acute pyelonephritis,  aneurysm disease,  granulomatous dermatitis,  marek disease,  kanzaki disease,  hypertensive nephropathy,  angioedema induced by ace inhibitors,  "stroke, hemorrhagic",  alcoholic cardiomyopathy,  hypertensive retinopathy,  familial non-hodgkin lymphoma,  myocardial infarction 2,  eisenmenger syndrome,  cough variant asthma,  "renal tubular dysgenesis, ace-related",  microvascular complications of diabetes 3 ,  neurosarcoidosis,  mesangioproliferative glomerulopathy,  "sars, progression of",  "coronary artery disease, modifier of",  hyporeninemic hypoaldosteronism,  moderate and severe traumatic brain injury,  hepatoportal sclerosis speech disorder Show all 361
ACE2 angiotensin I converting enzyme 2 Xp22.2 adenocarcinoma,  atherosclerosis,  lung cancer,  endotheliitis,  cerebritis,  pancreatitis,  coronary heart disease,  intracranial aneurysm,  proteinuria,  hypoxia,  hypertension,  vascular disease,  myocardial infarction,  kidney disease,  essential hypertension,  type 1 diabetes,  diabetes mellitus,  sinusitis,  tetanus,  pancreatic ductal adenocarcinoma,  scleroderma,  colon adenocarcinoma,  diabetic nephropathy,  liver disease,  multiple sclerosis,  severe acute respiratory syndrome,  malaria,  nephrotic syndrome,  type 1 diabetes mellitus,  stomatitis,  acne,  hypertrophic cardiomyopathy,  congestive heart failure,  urethritis,  chagas disease,  sarcoidosis,  posterior urethral valves,  posterior urethral valve,  nephrosclerosis,  aortic valve stenosis,  hartnup disease,  glucose intolerance,  cerebral malaria,  tetanus neonatorum neurogenic hypertension Show all 45
ACER1 alkaline ceramidase 1 19p13.3 lipogranulomatosis farber lipogranulomatosis
ACER2 alkaline ceramidase 2 9p22.1 retinitis,  retinal degeneration,  malaria,  lipogranulomatosis farber lipogranulomatosis
ACER3 alkaline ceramidase 3 11q13.5 blindness,  lynch syndrome,  partial fetal alcohol syndrome,  fetal alcohol syndrome,  cortical blindness,  lipogranulomatosis farber lipogranulomatosis Show all 7
ACF Asymmetric crying facies (Cayler cardiofacial syndrome) 22q11 alzheimers disease
ACHE acetylcholinesterase (Yt blood group) 7q22.1 adenocarcinoma,  prostate cancer,  prostatitis,  neuronitis,  lung cancer,  retinitis,  ovarian cancer,  endotheliitis,  leukemia,  breast cancer,  cerebritis,  pharyngitis,  psoriasis,  esophagitis,  blindness,  pancreatitis,  thyroiditis,  pancreatic cancer,  hepatocellular carcinoma,  huntingtons disease,  neuropathy,  vitiligo,  graves disease,  glaucoma,  hydrocephalus,  down syndrome,  skin disease,  alzheimers disease,  osteosarcoma,  renal cell carcinoma,  hypoxia,  schizophrenia,  pre-eclampsia,  eclampsia,  myelodysplastic syndromes,  lymphoblastic leukemia,  neuroblastoma,  hypertension,  ataxia,  pregnancy loss,  cerebrovascular disease,  polyneuropathy,  coronary artery disease,  lateral sclerosis,  amyotrophic lateral sclerosis,  type 1 diabetes,  ischemia,  obesity,  diabetes mellitus,  parkinsons disease,  tonsillitis,  gastric ulcer,  memory impairment,  epidermolysis bullosa,  gingivitis,  sinusitis,  tetanus,  brain disease,  diarrhea,  muscular dystrophy,  colon adenocarcinoma,  thyroid cancer,  myopathy,  multiple sclerosis,  malaria,  cerebellar ataxia,  lupus erythematosus,  systemic lupus erythematosus,  anorexia nervosa,  constipation,  cocaine dependence,  alcohol dependence,  cholera,  respiratory failure,  sporadic breast cancer,  neurologic diseases,  dementia,  gastroschisis,  congenital hypothyroidism,  hypothyroidism,  lymphopenia,  was-related disorders,  albinism,  myasthenia gravis,  aplasia cutis congenita,  bullous pemphigoid,  hirschsprungs disease,  vesiculitis,  tardive dyskinesia,  thymoma,  syncope,  anencephaly,  neural tube defects,  spina bifida,  omphalocele,  phenylketonuria,  frontotemporal dementia,  dyspepsia,  pemphigus,  growth hormone deficiency,  chorea,  brain injury,  status epilepticus,  vascular dementia,  congenital myasthenic syndrome,  traumatic brain injury,  fainting,  orthostatic intolerance ,  tendinosis,  wernicke-korsakoff syndrome,  lewy body dementia,  progressive supranuclear palsy,  chronic pain,  rem sleep behavior disorder,  picks disease,  head injury,  hypermethioninemia,  pemphigus vulgaris,  achalasia,  nephrosis,  paroxysmal nocturnal hemoglobinuria,  hemoglobinuria,  intestinal obstruction,  abdominal wall defect,  postural hypotension,  megacolon,  junctional epidermolysis bullosa,  colonic pseudo-obstruction,  endplate acetylcholinesterase deficiency,  epidermolysis bullosa with pyloric atresia diastematomyelia Show all 131
ACIN1 apoptotic chromatin condensation inducer 1 14q11.2 lung adenocarcinoma,  adenocarcinoma,  prostate cancer,  prostatitis,  endotheliitis,  leukemia,  cerebritis,  congenital diaphragmatic hernia,  thyroiditis,  colorectal cancer,  tonsillitis,  gastric adenocarcinoma,  colon adenocarcinoma,  hiv-1,  malaria,  breast and colorectal cancer,  cholestasis,  acne,  breast adenomyoepithelioma,  sialolithiasis tick paralysis Show all 21
ACKR2 atypical chemokine receptor 2 3p22.1 chronic lymphocytic leukemia,  melanoma,  myeloma,  endotheliitis,  leukemia,  breast cancer,  hepatitis,  psoriasis,  graft versus host disease,  inflammatory bowel disease,  pancreatitis,  pancreatic cancer,  hepatocellular carcinoma,  hepatitis c,  colorectal cancer,  nasopharyngitis,  crohns disease,  hepatitis b,  skin disease,  t-cell leukemia,  osteosarcoma,  myocardial infarction,  obesity,  acute lymphocytic leukemia,  sinusitis,  hiv-1,  adult t-cell leukemia,  mediastinitis,  b-cell lymphomas acute graft versus host disease Show all 30
ACKR3 atypical chemokine receptor 3 2q37.3 prostate cancer,  prostatitis,  neuronitis,  cervicitis,  atherosclerosis,  lung cancer,  endotheliitis,  breast cancer,  hepatitis,  cervical cancer,  pancreatitis,  thyroiditis,  pancreatic cancer,  hepatocellular carcinoma,  rhabdomyosarcoma,  meningioma,  sarcoma,  renal cell carcinoma,  hypoxia,  neuroblastoma,  hemolytic-uremic syndrome,  vascular disease,  rheumatoid arthritis,  arthritis,  pneumonia,  gallbladder cancer,  papillary thyroid carcinoma,  lupus erythematosus,  systemic lupus erythematosus lipoma Show all 30
ACKR4 atypical chemokine receptor 4 3q22.1 melanoma,  breast cancer,  psoriasis,  insulin resistance,  atopic dermatitis,  dermatitis,  sarcoidosis pulmonary sarcoidosis Show all 8
ACLS acrocallosal syndrome 12p13.3-p11.2 polydactyly,  was-related disorders,  hypothalamic hamartomas,  acrocallosal syndrome,  greig cephalopolysyndactyly syndrome,  pallister-hall syndrome,  postaxial polydactyly type a,  polydactyly preaxial type 4,  "hypothalamic hamartomas, somatic",  gli3-related disorders,  hydrolethalus syndrome 2 joubert syndrome 12 Show all 12
ACLY ATP citrate lyase 17q21.2 labyrinthitis,  prostate cancer,  prostatitis,  neuronitis,  cervicitis,  lung cancer,  ovarian cancer,  cerebritis,  hepatitis,  pancreatitis,  thyroiditis,  hepatocellular carcinoma,  schizophrenia,  type 1 diabetes,  obesity,  diabetes mellitus,  malaria type 1 diabetes mellitus Show all 18
ACMSD aminocarboxymuconate semialdehyde decarboxylase 2q21.3 neuronitis,  hepatitis,  obesity parkinsons disease
ACN9 ACN9 homolog (S. cerevisiae) 7q21.3 alcohol dependence acne
ACO1 aconitase 1, soluble 9p21.1 melanoma,  prostatitis,  neuronitis,  endotheliitis,  cerebritis,  thyroiditis,  asthma,  alzheimers disease,  hypoxia,  ataxia,  sickle cell disease,  age related macular degeneration,  parkinsons disease,  duodenitis,  cutaneous malignant melanoma,  cataract,  malaria,  tuberculosis,  acne,  intellectual disability,  hepatoblastoma,  thalassemia,  beta thalassemia,  hemochromatosis,  sideroblastic anemia,  deficiency anemia,  iron deficiency anemia,  friedreich ataxia,  x-linked sideroblastic anemia,  x-linked sideroblastic anemia with ataxia,  microcytic anemia,  restless legs syndrome hyperferritinemia cataract syndrome Show all 33
ACO2 aconitase 2, mitochondrial 22q13.2 prostatitis,  lung cancer,  retinitis,  multiple myeloma,  myeloma,  cerebritis,  pancreatitis,  thyroiditis,  colorectal cancer,  down syndrome,  alzheimers disease,  schizophrenia,  ataxia,  obesity,  tonsillitis,  retinal degeneration,  cystic fibrosis,  endocarditis,  malaria,  breast and colorectal cancer,  dilated cardiomyopathy,  tuberculosis,  optic atrophy,  hypotonia,  friedreich ataxia,  ornithine translocase deficiency,  cerebellar degeneration,  athetosis,  brugada syndrome 4 infantile cerebellar-retinal degeneration Show all 30
ACOT1 acyl-CoA thioesterase 1 14q24.3 epididymitis human immunodeficiency virus infectious disease
ACOT11 acyl-CoA thioesterase 11 1p32.3 thyroiditis,  strabismus,  obesity tinea unguium
ACOT12 acyl-CoA thioesterase 12 5q14.1 cleft lip,  cleft palate pericarditis
ACOT13 acyl-CoA thioesterase 13 6p22.3 breast cancer,  malaria,  dyslexia,  diphyllobothriasis,  verrucous carcinoma,  cutaneous anthrax larynx verrucous carcinoma Show all 7
ACOT2 acyl-CoA thioesterase 2 14q24.3 labyrinthitis,  cerebritis alzheimers disease
ACOT4 acyl-CoA thioesterase 4 14q24.3 cerebritis alzheimers disease
ACOT6 acyl-CoA thioesterase 6 14q24.3 schizophrenia
ACOT7 acyl-CoA thioesterase 7 1p36.31 neuronitis,  cerebritis,  neuroblastoma,  hypertension,  ataxia,  kidney disease,  tonsillitis,  temporal lobe epilepsy,  fatty acid oxidation disorders meckels diverticulum Show all 10
ACOT8 acyl-CoA thioesterase 8 20q13.12 prostatitis,  neuronitis,  endotheliitis,  cerebritis,  thyroiditis,  hypertension,  tonsillitis,  hiv-1,  tuberculosis,  plague,  hypertensive encephalopathy von economos disease Show all 12
ACOT9 acyl-CoA thioesterase 9 Xp22.11 pancreatitis,  pancreatic cancer malaria
ACOX1 acyl-CoA oxidase 1, palmitoyl 17q25.1 retinitis,  multiple myeloma,  myeloma,  breast cancer,  cerebritis,  hepatitis,  hepatocellular carcinoma,  chondrodysplasia,  retinoblastoma,  mental retardation,  anoxia,  liver disease,  malaria,  protein s deficiency,  fatty liver disease,  leukodystrophy,  hepatoblastoma,  zellweger syndrome,  adrenoleukodystrophy,  peroxisome disorders,  rhizomelic chondrodysplasia punctata,  peroxisomal disease,  refsum disease,  pseudoneonatal adrenoleukodystrophy,  peroxisomal acyl-coa oxidase deficiency ,  rhizomelic chondrodysplasia punctata type 1 d-bifunctional protein deficiency Show all 27
ACOX2 acyl-CoA oxidase 2, branched chain 3p14.3 hepatocellular carcinoma,  mental retardation,  hepatoblastoma,  zellweger syndrome,  adrenoleukodystrophy,  peroxisome disorders pseudoneonatal adrenoleukodystrophy Show all 7
ACOX3 acyl-CoA oxidase 3, pristanoyl 4p16.1 chronic lymphocytic leukemia,  prostate cancer,  prostatitis,  leukemia,  narcolepsy,  malaria,  zellweger syndrome,  mutism peroxisome disorders Show all 9
ACOXL acyl-CoA oxidase-like 2q13 chronic lymphocytic leukemia,  prostate cancer,  prostatitis leukemia
ACP1 acid phosphatase 1, soluble 2p25.3 endometriosis,  chronic lymphocytic leukemia,  melanoma,  adenocarcinoma,  prostate cancer,  prostatitis,  neuronitis,  cervicitis,  atherosclerosis,  lung cancer,  squamous cell carcinoma,  multiple myeloma,  ovarian cancer,  myeloma,  endotheliitis,  leukemia,  breast cancer,  cerebritis,  hepatitis,  pharyngitis,  psoriasis,  periodontitis,  inflammatory bowel disease,  ulcerative colitis,  pancreatitis,  thyroiditis,  pancreatic cancer,  asthma,  malignant glioma,  hepatocellular carcinoma,  hepatitis c,  colorectal cancer,  myeloid leukemia,  short stature,  noonan syndrome,  adenoiditis,  leiomyoma,  retinoblastoma,  alzheimers disease,  medulloblastoma,  oral squamous cell carcinoma,  sarcoma,  schizophrenia,  polycythemia,  neuroblastoma,  peritonitis,  hypertension,  coronary artery disease,  sepsis,  type 1 diabetes,  hepatitis c virus,  ischemia,  obesity,  diabetes mellitus,  rheumatoid arthritis,  arthritis,  pneumonia,  gingivitis,  squamous cell carcinoma of the head and neck,  adenoid cystic carcinoma,  behcets disease,  astrocytoma,  acute leukemia,  pheochromocytoma,  liver cirrhosis,  hyperglycemia,  osteoporosis,  myopathy,  cystic fibrosis,  multiple sclerosis,  malaria,  breast and colorectal cancer,  lupus erythematosus,  systemic lupus erythematosus,  gestational diabetes,  insulin resistance,  arthropathy,  tuberculosis,  encephalitis,  choriocarcinoma,  stomatitis,  leishmaniasis,  idiopathic generalized epilepsy,  alopecia,  autoimmune thyroiditis,  celiac disease,  familial adenomatous polyposis,  neurofibromatosis,  diabetes insipidus,  plague,  centronuclear myopathy,  brain ischemia,  vaccinia,  burkitts lymphoma,  acute promyelocytic leukemia,  b-cell lymphomas,  myoclonus epilepsy,  progressive myoclonus epilepsy,  myoclonus,  diffuse large b-cell lymphoma,  alopecia areata,  lafora disease,  differentiating neuroblastoma,  pulmonary tuberculosis,  polycythemia vera,  alcohol abuse,  hemoglobinopathy,  neonatal jaundice,  angiosarcoma,  leopard syndrome,  somatostatin analog,  guillain-barre syndrome,  japanese encephalitis,  amebiasis,  bubonic plague,  "progressive myoclonus epilepsy, lafora type",  bilateral breast cancer,  lipomatosis,  tic disorder,  multiple symmetric lipomatosis,  multiple symmetrical lipomatosis,  favism okamoto syndrome Show all 123
ACP2 acid phosphatase 2, lysosomal 11p11.2 keratoconus,  prostate cancer,  prostatitis,  neuronitis,  multiple myeloma,  myeloma,  seminoma,  malaria,  hypotonia,  progressive supranuclear palsy lysosomal acid phosphatase deficiency Show all 11
ACP5 acid phosphatase 5, tartrate resistant 19p13.2 skeletal dysplasias,  hyperparathyroidism,  melanoma,  prostate cancer,  prostatitis,  lung cancer,  multiple myeloma,  myeloma,  endotheliitis,  leukemia,  breast cancer,  cerebritis,  blindness,  asthma,  hepatocellular carcinoma,  giant cell tumor,  osteogenesis imperfecta,  t-cell leukemia,  osteosarcoma,  lymphoblastic leukemia,  kidney disease,  obesity,  diabetes mellitus,  rheumatoid arthritis,  arthritis,  tonsillitis,  myelofibrosis,  pagets disease of bone,  hairy cell leukemia,  gingivitis,  sinusitis,  synovitis,  osteoarthritis,  basal cell carcinoma,  osteoporosis,  multiple sclerosis,  spasticity,  rickets,  renal osteodystrophy,  hyperthyroidism,  gauchers disease,  primary biliary cirrhosis,  microphthalmia,  osteopetrosis,  juvenile rheumatoid arthritis,  hemiplegia,  osteonecrosis,  osteomyelitis,  pigmented villonodular synovitis,  villonodular synovitis,  bone giant cell tumor,  metaphyseal dysplasia,  hairy cell leukemia of spleen,  spondyloenchondrodysplasia,  spondyloenchondrodysplasia with immune dysregulation camurati-engelmann disease Show all 56
ACP6 acid phosphatase 6, lysophosphatidic 1q21.2 prostatitis,  atherosclerosis,  squamous cell carcinoma,  ovarian cancer,  esophagitis,  esophageal squamous cell carcinoma,  tetralogy of fallot atrioventricular septal defect Show all 8
ACPP acid phosphatase, prostate 3q22.1 adenocarcinoma,  prostate cancer,  prostatitis,  neuronitis,  lung cancer,  myeloma,  leukemia,  breast cancer,  cerebritis,  hepatitis,  prostate adenocarcinoma,  periodontal disease,  periodontitis,  blindness,  pancreatitis,  thyroiditis,  epididymitis,  bladder carcinoma,  giant cell tumor,  transitional cell carcinoma,  renal cell carcinoma,  arthritis,  prostatic hypertrophy,  breast cyst,  prostate disease,  sinusitis,  seminoma,  adenoma,  osteoporosis,  colon adenocarcinoma,  liver disease,  tuberculosis,  acromegaly,  gauchers disease,  azoospermia,  cloacogenic carcinoma,  phyllode tumor,  varicocele,  neuroendocrine carcinoma,  paine syndrome,  ophthalmoplegia,  adenomatoid tumor,  endodermal sinus tumor,  lymphoepithelioma-like carcinoma,  b-cell lymphomas,  osteopetrosis,  histiocytosis,  small cell carcinoma,  follicular adenoma,  sphenoid sinusitis,  root resorption,  chediak-higashi syndrome,  clear cell adenocarcinoma,  mucinous adenocarcinoma,  histoplasmosis,  angiosarcoma,  malignant fibroxanthoma,  intravascular large b-cell lymphoma,  nephrogenic adenoma,  nephrogenic adenoma of the urethra,  prostatic adenoma,  urethra cancer prostate transitional cell carcinoma Show all 63
ACPT acid phosphatase, testicular 19q13.33 prostate cancer,  prostatitis testicular cancer
ACR acrosin 22q13.33 endotheliitis,  epididymitis,  infertility,  vaginitis,  azoospermia,  varicocele,  male infertility,  globozoospermia male infertility due to acrosin deficiency Show all 9
ACRBP acrosin binding protein 12p13.31 cowpox arteriolosclerosis
ACRC acidic repeat containing Xq13.1 adenocarcinoma appendix adenocarcinoma
ACRPS Acropectoral syndrome 7q36 acropectoral syndrome
ACRPV Acropectorovertebral dysplasia (F syndrome) 2q36 acropectorovertebral dysplasia f form
ACRV1 acrosomal vesicle protein 1 11q24.2 infertility,  osteoarthritis,  silicosis,  frozen shoulder,  hordeolum lemierres syndrome Show all 6
ACSBG1 acyl-CoA synthetase bubblegum family member 1 15q25.1 neuronitis,  cerebritis,  tuberculosis adrenoleukodystrophy
ACSBG2 acyl-CoA synthetase bubblegum family member 2 19p13.3 endotheliitis,  malaria,  tuberculosis adrenoleukodystrophy
ACSF2 acyl-CoA synthetase family member 2 17q21.33 malaria tuberculosis
ACSF3 acyl-CoA synthetase family member 3 16q24.3 multiple myeloma,  myeloma,  microcephaly,  hypertension,  type 1 diabetes,  hypoglycemia,  liver disease,  tuberculosis,  hypotonia,  b-cell lymphomas,  methylmalonic acidemia combined malonic and methylmalonic aciduria Show all 12
ACSL1 acyl-CoA synthetase long-chain family member 1 4q35.1 prostatitis,  retinitis,  cerebritis,  hepatitis,  thyroiditis,  obesity,  tonsillitis,  insulin resistance very long-chain acyl-coenzyme a dehydrogenase deficiency Show all 9
ACSL3 acyl-CoA synthetase long-chain family member 3 2q36.1 craniosynostosis,  labyrinthitis,  prostate cancer,  prostatitis,  cerebritis,  hepatitis,  thyroiditis,  asthma,  saethre-chotzen syndrome,  tonsillitis,  malaria hypertriglyceridemia Show all 12
ACSL4 acyl-CoA synthetase long-chain family member 4 Xq23 labyrinthitis,  adenocarcinoma,  prostate cancer,  prostatitis,  neuronitis,  multiple myeloma,  myeloma,  breast cancer,  cerebritis,  hepatitis,  thyroiditis,  hepatocellular carcinoma,  major depressive disorder,  colorectal cancer,  mental retardation,  schizophrenia,  tonsillitis,  glomerulonephritis,  adenoma,  colon adenocarcinoma,  breast and colorectal cancer,  insulin resistance,  "mental retardation, x-linked",  intellectual disability,  "mental retardation, x-linked 17/31, microduplication",  hypotonia,  autism spectrum disorder,  alport syndrome,  "alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis" alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis Show all 30
ACSL5 acyl-CoA synthetase long-chain family member 5 10q25.2 labyrinthitis,  adenocarcinoma,  retinitis,  hepatitis,  malignant glioma,  colorectal cancer,  alzheimers disease,  adenoma,  malaria,  breast and colorectal cancer,  lupus erythematosus,  systemic lupus erythematosus hypertriglyceridemia Show all 13
ACSL6 acyl-CoA synthetase long-chain family member 6 5q31.1 prostate cancer,  prostatitis,  neuronitis,  multiple myeloma,  myeloma,  leukemia,  cerebritis,  inflammatory bowel disease,  crohns disease,  eosinophilia,  choroiditis,  hypoxia,  schizophrenia,  polycythemia,  myelodysplastic syndromes,  choriocarcinoma,  premature ovarian failure,  gestational choriocarcinoma,  polycythemia vera "acute myeloid leukemia, adult" Show all 20
ACSM1 acyl-CoA synthetase medium-chain family member 1 16p12.3 adenocarcinoma,  cerebritis,  thyroiditis,  schizophrenia,  hypertension,  essential hypertension,  apocrine adenocarcinoma hypertrophy of breast Show all 8
ACSM2B acyl-CoA synthetase medium-chain family member 2B 16p12.3 hepatoblastoma
ACSM3 acyl-CoA synthetase medium-chain family member 3 16p12.3 ulcerative colitis,  crohns disease,  hypertension,  kidney disease,  essential hypertension,  obesity,  pterygium,  insulin resistance hypertriglyceridemia Show all 9
ACSM5 acyl-CoA synthetase medium-chain family member 5 16p12.3 hepatocellular carcinoma kidney disease
ACSS1 acyl-CoA synthetase short-chain family member 1 20p11.21 prostatitis,  cerebritis,  hepatitis,  thyroiditis,  hepatocellular carcinoma,  hypertension,  kidney disease,  sinusitis tuberculosis Show all 9
ACSS2 acyl-CoA synthetase short-chain family member 2 20q11.22 labyrinthitis,  hepatitis,  hepatocellular carcinoma,  hypercalcemia,  ischemia,  malaria,  tuberculosis alcoholic hepatitis Show all 8
ACSS3 acyl-CoA synthetase short-chain family member 3 12q21.31 malaria fetal alcohol syndrome
ACT actin-like protein (ACT) gene 2q21.1 hepatocellular carcinoma,  alpha-1-antichymotrypsin deficiency "cerebrovascular disease, occlusive"
ACTA1 actin, alpha 1, skeletal muscle 1q42.13 melanoma,  neuronitis,  cervicitis,  atherosclerosis,  squamous cell carcinoma,  multiple myeloma,  ovarian cancer,  myeloma,  endotheliitis,  leukemia,  breast cancer,  hepatitis,  thyroiditis,  alzheimers disease,  sarcoma,  myocardial infarction,  acute myocardial infarction,  coronary artery disease,  sepsis,  parkinsons disease,  kaposis sarcoma,  aortic aneurysm,  muscular dystrophy,  diabetic nephropathy,  thyroid cancer,  myopathy,  hiv-1,  insulin resistance,  cholera,  respiratory failure,  dementia,  autoimmune hepatitis,  hypotonia,  neuromuscular disease,  shigellosis,  lissencephaly x-linked,  myotonic dystrophy,  hypertrophic cardiomyopathy,  rod myopathy,  myopathy congenital,  congenital fiber-type disproportion,  nemaline myopathy,  vaccinia,  limb-girdle muscular dystrophy,  thoracic aortic aneurysm,  drug addiction,  listeriosis,  restrictive cardiomyopathy,  congenital myotonic dystrophy,  severe congenital nemaline myopathy,  intermediate nemaline myopathy,  typical nemaline myopathy,  childhood-onset nemaline myopathy,  nance-horan syndrome,  distal arthrogryposis,  childhood restrictive cardiomyopathy,  "nemaline myopathy 3, autosomal dominant or recessive",  acta1-related congenital fiber-type disproportion,  nemaline myopathy 3,  "myopathy, actin, congenital, with excess of thin myofilaments",  intranuclear rod myopathy,  acta1-related nemaline myopathy,  "myopathy, congenital, with fiber-type disproportion 1",  "myopathy, actin, congenital, with cores",  ruptured thoracic aortic aneurysm cap myopathy Show all 66
ACTA2 actin, alpha 2, smooth muscle, aorta 10q23.31 endometriosis,  prostatitis,  lung cancer,  retinitis,  multiple myeloma,  myeloma,  endotheliitis,  cerebritis,  hepatitis,  ulcerative colitis,  hepatitis b,  rhabdomyosarcoma,  alzheimers disease,  osteosarcoma,  renal cell carcinoma,  hypertension,  vascular disease,  cerebrovascular disease,  coronary artery disease,  rheumatoid arthritis,  arthritis,  moyamoya disease,  hypertrophic scars,  glomerulonephritis,  aortic aneurysm,  muscular dystrophy,  basal cell carcinoma,  hiv-1,  malaria,  neuroma,  cholera,  familial hypertension,  thoracic aortic aneurysm,  loeys-dietz syndrome,  hemiplegia,  treacher collins syndrome,  ca4-related retinitis pigmentosa,  retinitis pigmentosa 17 ,  familial thoracic aortic aneurysm and dissection,  aortic disease,  scar contracture,  "aortic aneurysm, familial thoracic 6",  acta2-related thoracic aortic aneurysms and aortic dissections,  moyamoya disease 5 ,  multisystemic smooth muscle dysfunction syndrome ,  thoracic aortic aneurysms and aortic dissections "aortic aneurysm, familial thoracic 4" Show all 47
ACTB actin, beta 7p22.1 skeletal dysplasias,  melanoma,  adenocarcinoma,  prostate cancer,  prostatitis,  neuronitis,  atherosclerosis,  lung cancer,  retinitis,  multiple myeloma,  myeloma,  endotheliitis,  leukemia,  breast cancer,  cerebritis,  hepatitis,  pancreatitis,  thyroiditis,  asthma,  hepatocellular carcinoma,  huntingtons disease,  lissencephaly,  short stature,  microcephaly,  alzheimers disease,  mental retardation,  sarcoma,  hypoxia,  bipolar disorder,  schizophrenia,  wiskott-aldrich syndrome,  neuroblastoma,  hypertension,  vascular disease,  myocarditis,  ischemia,  obesity,  parkinsons disease,  kaposis sarcoma,  gingivitis,  cataract,  muscular dystrophy,  colon adenocarcinoma,  myopathy,  multiple sclerosis,  hiv-1,  malaria,  dilated cardiomyopathy,  insulin resistance,  cholera,  intellectual disability,  autoimmune hepatitis,  shigellosis,  bardet-biedl syndrome,  hypertrophic cardiomyopathy,  influenza,  measles,  phaeohyphomycosis,  baraitser-winter syndrome,  baraitser-winter syndrome 1 juvenile-onset dystonia Show all 61
ACTBL2 actin, beta-like 2 5q11.2 keratoconus,  prostate cancer,  prostatitis,  hepatocellular carcinoma neuroblastoma
ACTBP12 actin, beta pseudogene 12 1p22.1 pancreatitis
ACTBP2 actin, beta pseudogene 2 5q14.1 lateral sclerosis,  amyotrophic lateral sclerosis insulin resistance
ACTC1 actin, alpha, cardiac muscle 1 15q14 endometriosis,  chondrosarcoma,  labyrinthitis,  melanoma,  adenocarcinoma,  prostate cancer,  prostatitis,  neuronitis,  atherosclerosis,  multiple myeloma,  myeloma,  endotheliitis,  breast cancer,  cerebritis,  hepatitis,  myopia,  esophagitis,  pancreatitis,  thyroiditis,  hepatocellular carcinoma,  hepatitis c,  nasopharyngitis,  hepatitis b,  gliosarcoma,  papilloma,  inverted papilloma,  giant cell tumor,  synovial sarcoma,  down syndrome,  liposarcoma,  adenoiditis,  leiomyoma,  rhabdomyosarcoma,  alzheimers disease,  medulloblastoma,  meningioma,  choroiditis,  sarcoma,  renal cell carcinoma,  hypoxia,  wiskott-aldrich syndrome,  gastrointestinal stromal tumor,  neuroblastoma,  peritonitis,  myocardial infarction,  kidney disease,  hepatitis c virus,  scleromyxedema,  cavernous hemangioma,  pyogenic granuloma,  juvenile nasopharyngeal angiofibroma,  kaposis sarcoma,  hemangioma,  hemangiopericytoma,  lymphangioleiomyomatosis,  pneumonia,  adenomyosis,  pleomorphic adenoma,  breast disease,  gingivitis,  paraganglioma,  sinusitis,  mucoepidermoid carcinoma,  leiomyosarcoma,  multiple endocrine neoplasia,  fibrosarcoma,  adenoid cystic carcinoma,  papillary carcinoma,  adenoma,  idiopathic pulmonary fibrosis,  gastric adenocarcinoma,  wilms tumor,  pulmonary fibrosis,  liver cirrhosis,  basal cell carcinoma,  pertussis,  thyroid cancer,  myopathy,  liver disease,  hiv-1,  severe acute respiratory syndrome,  viral hepatitis,  endocarditis,  dilated cardiomyopathy,  mastocytosis,  systemic mastocytosis,  teratoma,  fatty liver disease,  fibromatosis,  fasciitis,  ductal carcinoma in situ,  vaginitis,  tuberous sclerosis,  lipoma,  ependymoma,  oligodendroglioma,  adenosarcoma,  sclerosing hemangioma,  pulmonary sclerosing hemangioma,  phyllode tumor,  desmoid tumor,  desmoplastic small round cell tumor,  angiomyolipoma,  cystadenoma,  hypertrophic cardiomyopathy,  endocervicitis,  microphthalmia,  cystadenocarcinoma,  neurofibroma,  fibrous histiocytoma,  histiocytoma,  neurofibromatosis,  nemaline myopathy,  left ventricular noncompaction,  syncope,  vaccinia,  mature teratoma,  sarcomatoid renal cell carcinoma,  cystic teratoma,  b-cell lymphomas,  ovarian fibrothecoma,  congestive heart failure,  familial hypertrophic cardiomyopathy,  histiocytosis,  diffuse large b-cell lymphoma,  langerhans-cell histiocytosis,  vulvovaginitis,  rhabdoid tumor,  refractive error,  nonalcoholic steatohepatitis,  ossifying fibromyxoid tumor,  ganglioglioma,  multiple endocrine neoplasia type 2a,  multiple system atrophy,  sickle cell anemia,  dedifferentiated liposarcoma,  inflammatory myofibroblastic tumor,  angiosarcoma,  pancreas adenocarcinoma,  tendinopathy,  mucinous cystadenocarcinoma,  botryoid rhabdomyosarcoma,  nephroblastoma,  spindle cell carcinoma,  atypical teratoid rhabdoid tumor,  benign schwannoma,  dermatofibrosarcoma,  polymorphous low-grade adenocarcinoma,  solitary fibrous tumor,  dermatofibrosarcoma protuberans,  sweat gland carcinoma,  malignant peripheral nerve sheath tumor,  lymphangioma,  clear cell sarcoma,  granulosa cell tumor of the ovary,  sarcomatoid mesothelioma,  cystic nephroma,  nephrosis,  smooth muscle tumor,  pneumothorax,  chickenpox,  spindle cell lipoma,  glomus tumor,  endometrial stromal sarcoma,  non-langerhans-cell histiocytosis,  klebsiella,  mesenchymal chondrosarcoma,  follicular dendritic cell tumor,  perivascular epithelioid cell tumor,  horseshoe kidney,  pulmonary vein stenosis,  epithelioid leiomyosarcoma,  somatostatinoma,  "cardiomyopathy, dilated, 1w",  myoepithelioma,  "left ventricular noncompaction 1, with or without congenital heart defects",  spiradenoma,  benign metastasizing leiomyoma,  syringocystadenoma papilliferum,  glomangioma,  lipomatosis,  leiomyomatosis,  carney triad,  cutaneous leiomyosarcoma,  malignant giant cell tumor of soft parts,  malignant giant cell tumor,  anaplastic ganglioglioma,  angiocentric glioma,  atrial septal defect 8,  limb-girdle muscular dystrophy type 1c,  cav3-related sudden infant death syndrome,  myofibroma,  pseudoangiomatous stromal hyperplasia,  binswangers disease,  bizarre leiomyoma,  actc1-related familial hypertrophic cardiomyopathy,  "cardiomyopathy, familial hypertrophic, 11",  glomangiomyoma,  left ventricular noncompaction 4 ,  disseminated peritoneal leiomyomatosis,  calcified aponeurotic fibroma,  atrial septal defect 5 ,  "cardiomyopathy, dilated, 1r",  actc1-related dilated cardiomyopathy,  myxoid leiomyosarcoma,  prostatic stromal proliferation of uncertain malignant potential,  intravenous leiomyomatosis,  infantile myofibromatosis,  atrial septal defect 2 hemangioma of liver Show all 210
ACTD Acetabular dysplasia 13q22 acetabular dysplasia
ACTG1 actin, gamma 1 17q25.3 adenocarcinoma,  prostate cancer,  prostatitis,  neuronitis,  lung cancer,  retinitis,  multiple myeloma,  ovarian cancer,  myeloma,  endotheliitis,  leukemia,  psoriasis,  pancreatitis,  hepatocellular carcinoma,  tooth disease,  charcot-marie-tooth disease,  lissencephaly,  short stature,  sensorineural hearing loss,  amyloidosis,  microcephaly,  alzheimers disease,  sarcoma,  renal cell carcinoma,  schizophrenia,  pre-eclampsia,  eclampsia,  wiskott-aldrich syndrome,  hypertension,  vascular disease,  gigantism,  myocarditis,  coronary artery disease,  rheumatoid arthritis,  parkinsons disease,  arthritis,  kaposis sarcoma,  hemangiopericytoma,  cataract,  osteoarthritis,  pancreatic ductal adenocarcinoma,  childhood leukemia,  muscular dystrophy,  herpes simplex,  hiv-1,  endocarditis,  malaria,  acquired immunodeficiency syndrome,  dilated cardiomyopathy,  acute pancreatitis,  tuberculosis,  cholera,  intellectual disability,  shigellosis,  hypertrophic cardiomyopathy,  lynch syndrome,  thalassemia,  influenza,  beta thalassemia,  charcot-marie-tooth disease type 2,  human immunodeficiency virus infectious disease,  nonsyndromic hearing loss and deafness,  deafness and hereditary hearing loss,  usher syndrome,  "deafness, autosomal dominant 4b",  "nonsyndromic hearing loss and deafness, autosomal dominant",  glomus tumor,  pneumocystosis,  usher syndrome type i,  baraitser-winter syndrome,  "deafness, autosomal dominant 20/26",  baraitser-winter syndrome 2 ,  dfna20/26 nonsyndromic hearing loss and deafness baraitser-winter syndrome 1 Show all 74
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 prostatitis,  endotheliitis,  hepatocellular carcinoma,  sarcoma,  gastrointestinal stromal tumor,  hypertension,  diabetes mellitus,  kaposis sarcoma,  idiopathic pulmonary fibrosis,  muscular dystrophy,  pulmonary fibrosis,  myopathy,  hiv-1,  malaria,  cholestasis,  cholera,  lynch syndrome,  treacher collins syndrome,  peyronies disease,  legg-calve-perthes disease megaduodenum and/or megacystis Show all 21
ACTL6A actin-like 6A 3q26.33 prostate cancer,  prostatitis,  neuronitis,  cervicitis,  endotheliitis,  leukemia,  cerebritis,  cervical cancer,  thyroiditis,  neuroblastoma,  tonsillitis,  hiv-1,  malaria,  fanconis anemia eaf Show all 15
ACTL6B actin-like 6B 7q22.1 prostate cancer,  prostatitis,  neuronitis,  fanconis anemia spina bifida
ACTL7A actin-like 7A 9q31.3 breast cancer,  infertility,  hypertension,  male infertility,  dysautonomia,  riley-day syndrome hypertensive nephropathy Show all 7
ACTL7B actin-like 7B 9q31.3 prostatitis,  infertility,  hypertension,  male infertility,  dysautonomia,  riley-day syndrome hypertensive nephropathy Show all 7
ACTL8 actin-like 8 1p36.13 prostate cancer,  prostatitis obesity
ACTL9 actin-like 9 19p13.2 colorectal cancer,  breast and colorectal cancer,  atopic dermatitis dermatitis
ACTN1 actinin, alpha 1 14q24.1 lung adenocarcinoma,  endometriosis,  adenocarcinoma,  prostate cancer,  prostatitis,  endotheliitis,  breast cancer,  hepatitis,  hepatocellular carcinoma,  hepatitis c,  alzheimers disease,  sarcoma,  neuroblastoma,  ataxia,  hepatitis c virus,  soft tissue sarcoma,  astrocytoma,  wilms tumor,  muscular dystrophy,  multiple sclerosis,  hiv-1,  malaria,  dilated cardiomyopathy,  lupus erythematosus,  systemic lupus erythematosus,  lipoma,  hypertrophic cardiomyopathy,  limb-girdle muscular dystrophy,  familial hypertrophic cardiomyopathy,  sickle cell anemia,  atypical polypoid adenomyoma,  "macrothrombocytopenia, autosomal dominant, tubb1-related" "bleeding disorder, platelet-type, 15" Show all 33
ACTN2 actinin, alpha 2 1q43 neuronitis,  cervicitis,  multiple myeloma,  myeloma,  endotheliitis,  thyroiditis,  alzheimers disease,  schizophrenia,  neuroblastoma,  ataxia,  obesity,  skeletal muscle regeneration,  papillary thyroid carcinoma,  muscular dystrophy,  herpes simplex,  myopathy,  spinocerebellar ataxia,  dilated cardiomyopathy,  lupus erythematosus,  intrahepatic cholangiocarcinoma,  cholangiocarcinoma,  systemic lupus erythematosus,  neuromuscular disease,  hypertrophic cardiomyopathy,  congestive heart failure,  familial hypertrophic cardiomyopathy,  congenital muscular dystrophy,  endocardial fibroelastosis,  "cardiomyopathy, dilated, 1w",  infantile onset spinocerebellar ataxia,  actn2-related familial hypertrophic cardiomyopathy,  "cardiomyopathy, dilated, 1aa" actn2-related dilated cardiomyopathy Show all 33
ACTN3 actinin, alpha 3 (gene/pseudogene) 11q13.2 cervicitis,  endotheliitis,  alzheimers disease,  bipolar disorder,  neuroblastoma,  muscular dystrophy,  myopathy,  lupus erythematosus,  systemic lupus erythematosus,  congenital muscular dystrophy dystrophinopathies Show all 11
ACTN4 actinin, alpha 4 19q13.2 adenocarcinoma,