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Genes Associated with Diseases

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

10,706 "disease genes" are currently present in the GeneCards database
This is a partial list of 5,000 genes. The complete list contains 10,706 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,  Arteritic Anterior Ischemic Optic Neuropathy,  Non-Arteritic Anterior Ischemic Optic Neuropathy,  Ischemic Optic Neuropathy Anterior Ischemic Optic Neuropathy Show all 5
A1BG alpha-1-B glycoprotein 19q13.43 Pancreatic Ductal Adenocarcinoma
A1CF APOBEC1 complementation factor 10q11.23 Anisometropia Amblyopia
A2M alpha-2-macroglobulin 12p13.31 Alzheimers Disease,  Alpha-2-Macroglobulin Deficiency,  Senile Systemic Amyloidosis Argyrophilic Grain Disease Show all 4
A2ML1 alpha-2-macroglobulin-like 1 12p13.31 Paraneoplastic Pemphigus Noonan Syndrome 1
A4GALT alpha 1,4-galactosyltransferase 22q13.2 Nor Polyagglutination Syndrome Caffey Disease
AA1 Alopecia areata 1 18p11.3-p11.2 Alopecia Areata 1 Alopecia
AA2 Alopecia areata 2 16q11-q22 Alopecia Areata 2 Alopecia
AAA1 aortic aneurysm, familial abdominal 1 19q13 Abdominal Aortic Aneurysm Aneurysm
AAA2 Aortic aneurysm, familial abdominal 2 4q31 Aortic Aneurysm, Familial Abdominal 2,  Aneurysm Aortic Aneurysm
AAA3 Aneurysm, familial abdominal 3 9p21 Aneurysm, Familial Abdominal 3 Aneurysm
AAA4 Aortic aneurysm, familial abdominal, 4 12q13.3 Aortic Aneurysm, Familial Abdominal, 4,  Aneurysm Aortic Aneurysm
AAAS achalasia, adrenocortical insufficiency, alacrimia 12q13.13 Achalasia-Addisonianism-Alacrima Syndrome,  Achalasia,  Triple-A Syndrome,  Idiopathic Achalasia,  Abdominal Aortic Aneurysm,  Adrenocortical Insufficiency Dysphagia Show all 7
AACS acetoacetyl-CoA synthetase 12q24.31 Tracheal Cancer
AADAC arylacetamide deacetylase 3q25.1 Neutral Lipid Storage Disease,  Lipid Storage Disease Ectropion
AADAT aminoadipate aminotransferase 4q33 Huntingtons Disease
AAGAB alpha- and gamma-adaptin binding protein 15q23 Keratoderma, Palmoplantar, Punctate Type Ia,  Keratoderma Palmoplantar Keratosis
AAMP angio-associated, migratory cell protein 2q35 Adenocarcinoma,  Colon Adenocarcinoma Coronary Restenosis
AANAT aralkylamine N-acetyltransferase 17q25.1 Delayed Sleep Phase Syndrome,  Adolescent Idiopathic Scoliosis,  Pineocytoma,  Sleep Disorder Bipolar I Disorder Show all 5
AARS alanyl-tRNA synthetase 16q22.1 Charcot-Marie-Tooth Neuropathy Type 2N,  Charcot-Marie-Tooth Disease, Axonal, Type 2N,  Charcot-Marie-Tooth Neuropathy Type 2,  Mitochondrial Cardiomyopathy Charcot-Marie-Tooth Disease Type 2 Show all 5
AARS2 alanyl-tRNA synthetase 2, mitochondrial 6p21.1 Combined Oxidative Phosphorylation Deficiency 8,  Leukoencephalopathy, Progressive, With Ovarian Failure Mitochondrial Cardiomyopathy
AASS aminoadipate-semialdehyde synthase 7q31.32 Peliosis Hepatis,  Saccharopinuria,  Breast Lymphoma,  Hyperlysinemia Anoxia Show all 5
AASTH1 Allergic/atopic asthma related QTL 1 Asthma
AASTH10 Allergic/atopic asthma related QTL 10 Asthma
AASTH11 Allergic/atopic asthma related QTL 11 Asthma
AASTH12 Allergic/atopic asthma related QTL 12 Asthma
AASTH13 Allergic/atopic asthma related QTL 13 Asthma
AASTH14 Allergic/atopic asthma related QTL 14 Asthma
AASTH15 Allergic/atopic asthma related QTL 15 Asthma
AASTH16 Allergic/atopic asthma related QTL 16 Asthma
AASTH17 Allergic/atopic asthma related QTL 17 Asthma
AASTH18 Allergic/atopic asthma related QTL 18 Asthma
AASTH2 Allergic/atopic asthma related QTL 2 Asthma
AASTH20 Allergic/atopic asthma related QTL 20 Asthma
AASTH21 Allergic/atopic asthma related QTL 21 Asthma
AASTH22 Allergic/atopic asthma related QTL 22 Asthma
AASTH23 Allergic/atopic asthma related QTL 23 Asthma
AASTH24 Allergic/atopic asthma related QTL 24 Asthma
AASTH25 Allergic/atopic asthma related QTL 25 Asthma
AASTH26 Allergic/atopic asthma related QTL 25 Asthma
AASTH27 Allergic/atopic asthma related QTL 27 Asthma
AASTH28 Allergic/Atopic asthma related QTL 28 Asthma
AASTH29 Allergic/Atopic asthma related QTL 29 Asthma
AASTH30 Allergic/atopic asthma related QTL 30 Asthma
AASTH32 Allergic/Atopic asthma related QTL 32 Asthma
AASTH33 Allergic/atopic asthma related QTL 33 Asthma
AASTH34 Allergic/atopic asthma related QTL 34 Asthma
AASTH35 Allergic/atopic asthma related QTL 35 Asthma
AASTH36 Allergic/atopic asthma related QTL 36 Asthma
AASTH37 Allergic/atopic asthma related QTL 37 Asthma
AASTH38 Allergic/atopic asthma related QTL 38 Asthma
AASTH39 Allergic/atopic asthma related QTL 39 Asthma
AASTH4 Allergic/atopic asthma related QTL 4 Asthma
AASTH40 Allergic/atopic asthma related QTL 40 Asthma
AASTH41 Allergic/Atopic asthma related QTL 41 Asthma
AASTH42 Allergic/atopic asthma related QTL 42 Asthma
AASTH43 Allergic/atopic asthma related QTL 43 Asthma
AASTH44 Allergic/atopic asthma related QTL 44 Asthma
AASTH47 Allergic/atopic asthma related QTL 47 Asthma
AASTH48 Allergic/atopic asthma related QTL 48 Asthma
AASTH49 Allergic/atopic asthma related QTL 49 Asthma
AASTH5 Allergic/atopic asthma related QTL 5 Asthma
AASTH50 Allergic/atopic asthma related QTL 50 Asthma
AASTH51 Allergic/atopic asthma related QTL 51 Asthma
AASTH52 Allergic/atopic asthma related QTL 52 Asthma
AASTH53 Allergic/atopic asthma related QTL 53 Asthma
AASTH54 Allergic/atopic asthma related QTL 54 Asthma
AASTH55 Allergic/atopic asthma related QTL 5 Asthma
AASTH56 Allergic/Atopic asthma related QTL 56 Asthma
AASTH6 Allergic/atopic asthma related QTL 6 Asthma
AASTH7 Allergic/atopic asthma related QTL 7 Asthma
AASTH8 Allergic/atopic asthma related QTL 8 Asthma
AASTH9 Allergic/atopic asthma related QTL 9 Asthma
AAT1 Aortic aneurysm, familial thoracic 1 11q23.3-q24 Aortic Aneurysm, Familial Thoracic 1 Aneurysm
AAT2 Aortic aneurysm, familial thoracic 2 5q13-q14 Aortic Aneurysm, Familial Thoracic 2,  Aneurysm Aortic Aneurysm
AATK apoptosis-associated tyrosine kinase 17q25.3 Neuroblastoma
AAVS1 adeno-associated virus integration site 1 19q13|19q13-qter Herpes Simplex
ABAT 4-aminobutyrate aminotransferase 16p13.2 Asphyxia Neonatorum,  Homocarnosinosis,  Gaba Aminotransferase Deficiency,  Early Myoclonic Encephalopathy,  Stiff-Person Syndrome,  Hypotonia,  Succinic Semialdehyde Dehydrogenase Deficiency,  Schizophrenia Lennox-Gastaut Syndrome Show all 9
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 9q31.1 Lewis-Sumner Syndrome,  Familial Hdl Deficiency,  Tangier Disease,  Coronary Artery Disease In Familial Hypercholesterolemia, Protection Against,  Abca1-Associated Familial High Density Lipoprotein Deficiency,  Abca1-Related Disorders,  Hypoalphalipoproteinemia,  Lysosomal Acid Lipase Deficiency,  Artery Disease,  Syringomyelia,  Chediak-Higashi Syndrome,  Cholesteryl Ester Storage Disease,  Familial Hypercholesterolemia,  Hypercholesterolemia,  Scott Syndrome,  Xeroderma Pigmentosum, Group C,  Smith-Lemli-Opitz Syndrome,  Hyperalphalipoproteinemia Atherosclerosis Show all 19
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 2q35 Ichthyosis, Congenital, Autosomal Recessive 4A,  Harlequin Type Ichthyosis,  Ichthyosis, Autosomal Recessive 4B,  Abca12-Related Autosomal Recessive Congenital Ichthyosis,  Autosomal Recessive Congenital Ichthyosis,  Ectropion,  Ichthyosis Vulgaris Ichthyosis, Congenital, Autosomal Recessive 2 Show all 8
ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2 9q34.3 Developmental Coordination Disorder Neuroma
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 16p13.3 Surfactant Metabolism Dysfunction, Pulmonary, 3,  Abca3-Related Pulmonary Surfactant Metabolism Dysfunction,  Surfactant Dysfunction,  Surfactant Metabolism Dysfunction, Pulmonary, 1 Pulmonary Surfactant Metabolism Dysfunction Show all 5
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1p22.1 Retinitis Pigmentosa 19,  Cone-Rod Dystrophy 3,  Scotoma,  Fundus Flavimaculatus,  Stargardt Disease,  Cone-Rod Dystrophy X-Linked 3,  Age-Related Macular Degeneration 2,  Abca4-Related Retinitis Pigmentosa,  Abca4-Related Stargardt Disease 1,  Stargardt Macular Degeneration,  Retinitis Pigmentosa,  Age Related Macular Degeneration,  Retinal Dystrophy, Early-Onset, Severe,  Retinitis Pigmentosa 3,  Cone-Rod Dystrophy,  Macular Holes,  Congenital Toxoplasmosis,  Cone-Rod Dystrophy 2 Toxoplasmosis Show all 19
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5 17q24.3 Gingival Fibromatosis With Hypertrichosis
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 7q21.12 Inflammatory Bowel Disease 13,  Acute Non Lymphoblastic Leukemia,  Paralytic Ileus,  Ovarian Cystadenocarcinoma,  Colchicine Resistance,  Engraftment Syndrome,  Soft Tissue Sarcoma,  Cannabis Dependence,  Microsporidiosis,  Acute Myeloid Leukemia,  Lung Cancer,  Codeine Toxicity,  Plasmablastic Lymphoma,  Vaginitis,  Uterine Sarcoma,  Neonatal Abstinence Syndrome,  Breast Cancer,  Phenytoin Toxicity,  Postural Hypotension,  5-Fluorouracil Toxicity,  Myeloma,  Pervasive Developmental Disorder,  Ileus,  Gastrointestinal Carcinoma Warfarin Sensitivity Show all 25
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 2q31.1 Cholestasis, Progressive Familial Intrahepatic 2,  Benign Recurrent Intrahepatic Cholestasis 2,  Abcb11-Related Intrahepatic Cholestasis,  Cholestasis,  Intrahepatic Cholestasis,  Benign Recurrent Intrahepatic Cholestasis,  Liver Disease,  Intrahepatic Cholestasis Of Pregnancy,  Low Gamma-Gt Familial Intrahepatic Cholestasis,  Colchicine Resistance,  Cholestasis, Progressive Familial Intrahepatic 1,  Lung Cancer Cholestasis, Intrahepatic, Of Pregnancy, 1 Show all 13
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 7q21.12 Gallbladder Disease 1,  Cholestasis, Progressive Familial Intrahepatic 3,  Cholestasis, Intrahepatic, Of Pregnancy, 3,  Gallbladder Disease,  Intrahepatic Cholestasis Of Pregnancy,  Cholelithiasis,  Chronic Leukemia,  Cholangitis,  Cholestasis, Intrahepatic, Of Pregnancy, 1,  Choledocholithiasis,  Cholestasis,  Alagille Syndrome Intrahepatic Cholestasis Show all 13
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 2q35 Dyschromatosis Universalis Hereditaria 3,  Familial Pseudohyperkalemia,  Exhibitionism,  Dyschromatosis Universalis Hereditaria,  Microphthalmia, Isolated, With Coloboma 7,  Stereotypic Movement Disorder,  Kleptomania,  Coloboma,  Aminoaciduria Adrenoleukodystrophy Show all 10
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 Xq13.3 Congenital Syphilis,  X-Linked Sideroblastic Anemia With Ataxia,  Alcohol Abuse,  Nephropathia Epidemica,  Anemia, Sideroblastic, With Ataxia,  X-Linked Sideroblastic Anemia,  Sleeping Sickness,  Giant Hemangioma,  Leukopenia,  Sideroblastic Anemia,  Portal Vein Thrombosis,  Syphilis,  Majeed Syndrome,  Pearson Syndrome,  Refractory Anemia,  Viral Hepatitis,  Chikungunya,  Liver Disease,  Myocardial Infarction Obesity Show all 20
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 16p13.11 Intraocular Retinoblastoma,  Dubin-Johnson Syndrome,  Microsporidiosis,  Cholangiolocellular Carcinoma,  Acute Myeloid Leukemia,  Lung Cancer,  Colchicine Resistance,  Intraocular Lymphoma,  Chronic Leukemia,  Pseudoxanthoma Elasticum Cholestasis Show all 11
ABCC10 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 6p21.1 Hiv/aids
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 16q12.1 Dubin-Johnson Syndrome
ABCC12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 16q12.1 Breast Cancer Dubin-Johnson Syndrome
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 10q24.2 Dubin-Johnson Syndrome,  Dysembryoplastic Neuroepithelial Tumor,  Fallopian Tube Cancer,  Lung Cancer,  Rotor Syndrome,  Cholestasis,  Ovarian Cancer,  Intrahepatic Cholestasis Of Pregnancy,  Factor Vii Deficiency Cholangitis Show all 10
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 17q21.33 Cholangiolocellular Carcinoma,  Dubin-Johnson Syndrome,  Extrahepatic Cholestasis Obstructive Jaundice Show all 4
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 13q32.1 Lung Cancer
ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 3q27.1 Acute Lymphoblastic Leukemia,  Lymphoblastic Leukemia Dysembryoplastic Neuroepithelial Tumor
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 16p13.11 Acquired Pseudoxanthoma Elasticum,  Angioid Streaks,  Pseudoxanthoma Elasticum,  Arterial Calcification, Generalized, Of Infancy, 2,  Pseudoxanthoma Elasticum, Forme Fruste,  Arterial Calcification Of Infancy,  Elastosis Perforans Serpiginosa,  Mongolian Spot,  Arterial Calcification, Generalized, Of Infancy, 1,  Dubin-Johnson Syndrome Pseudoxanthoma Elasticum, Modifier Of Severity Of Show all 11
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 11p15.1 Leucine-Sensitive Hypoglycemia Of Infancy,  Neonatal Diabetes Mellitus,  Familial Hyperinsulinism,  Hypoglycemia,  Abcc8-Related Hyperinsulinism,  Hyperinsulinemic Hypoglycemia, Familial, 1,  Abcc8-Related Permanent Neonatal Diabetes Mellitus,  Diabetes Mellitus, Transient Neonatal 2,  Abcc8-Related Transient Neonatal Diabetes Mellitus 2,  Insulin Resistance,  Hyperinsulinemic Hypoglycemia,  Diabetes Mellitus,  Type 2 Diabetes Mellitus,  Hyperinsulinism,  Permanent Neonatal Diabetes Mellitus,  Transient Neonatal Diabetes Mellitus,  Acute Insulin Response,  Autosomal Dominant Disease,  Diabetes Mellitus, Noninsulin-Dependent, 2,  Diabetes Mellitus, Noninsulin-Dependent, Late Onset,  Diabetes Mellitus, Type 2, Susceptiblity To,  Diabetes Mellitus, Noninsulin-Dependent, Association With,  Hypertension, Insulin Resistance-Related,  Pancreatic Agenesis,  Diabetes Mellitus, Noninsulin-Dependent,  Monogenic Diabetes,  Hemihypertrophy,  Diabetes Mellitus, Transient Neonatal, 3,  Diabetes Mellitus, Permanent Neonatal, With Neurologic Features Maturity-Onset Diabetes Of The Young, Type 1 Show all 30
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 12p12.1 Atrial Fibrillation, Familial, 12,  Coronary Artery Vasospasm,  Cantu Syndrome,  Acromegaloid Facial Appearance Syndrome,  Abcc9-Related Familial Atrial Fibrillation,  Hypertrichosis-Acromegaloid Facial Appearence Syndrome,  Cardiomyopathy, Dilated, 1O,  Abcc9-Related Dilated Cardiomyopathy,  Osteochondrodysplasia,  Hypokalemic Periodic Paralysis,  Cardiomyopathy, Dilated, 1Ii Atrial Fibrillation, Familial, 3 Show all 12
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 Xq28 Adrenoleukodystrophy,  Spinocerebellar Degeneration,  Addisons Disease,  Peroxisomal Disease,  Adrenomyeloneuropathy,  Deafness, Dystonia, And Cerebral Hypomyelination Adrenomyeloneuropathy, Adult Show all 7
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2 12q12 Peroxisomal Disease
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3 1p21.3 Zellweger Syndrome,  Peroxisomal Disease Adrenoleukodystrophy
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 14q24.3 Methylmalonic Aciduria And Homocystinuria, Cblj Type,  Cbij,  Disorders Of Intracellular Cobalamin Metabolism,  Adrenoleukodystrophy Homocystinuria Show all 5
ABCF2 ATP-binding cassette, sub-family F (GCN20), member 2 7q36.1 Cystic Fibrosis
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 21q22.3 Tangier Disease,  Sitosterolemia Autosomal Recessive Nonsyndromic Deafness
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 4q22.1 Breast Cancer,  Nonpapillary Renal Cell Carcinoma,  Choriocarcinoma,  Acute Myeloid Leukemia,  Dysembryoplastic Neuroepithelial Tumor,  Erythroplakia,  Adult Acute Lymphocytic Leukemia Acute Lymphocytic Leukemia Show all 8
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 2p21 Aortic Atherosclerosis,  Sitosterolemia,  Hypercholesterolemia Familial Hypercholesterolemia Show all 4
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 2p21 Gallbladder Disease 4,  Gallbladder Disease,  Sitosterolemia,  Atherosclerosis,  Aortic Atherosclerosis Hypercholesterolemia Show all 6
ABHD11 abhydrolase domain containing 11 7q11.23 Williams-Beuren Syndrome
ABHD12 abhydrolase domain containing 12 20p11.21 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract,  Polyneuropathy,  Usher Syndrome Type 3 Retinitis Pigmentosa Show all 4
ABHD5 abhydrolase domain containing 5 3p21.33 Neutral Lipid Storage Disease,  Lipid Storage Disease Systemic Primary Carnitine Deficiency Disease
ABI1 abl-interactor 1 10p12.1 Acute Myeloid Leukemia,  Breast Cancer,  Colon Cancer Myeloid Leukemia Show all 4
ABL1 c-abl oncogene 1, non-receptor tyrosine kinase 9q34.12 Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib,  Chronic Myeloid Leukemia,  Precursor T-Cell Acute Lymphoblastic Leukemia,  Leukemia,  Myeloid Leukemia,  Philadelphia-Negative Chronic Myeloid Leukemia,  Acute Lymphoblastic Leukemia,  Bone Marrow Cancer,  Leukemia, Acute Lymphoblastic 3,  Acute Biphenotypic Leukemia,  Gastrointestinal Stromal Tumor Lymphoblastic Leukemia Show all 12
ABL2 c-abl oncogene 2, non-receptor tyrosine kinase 1q25.2 Leukemia, Acute Myeloid, With Eosinophilia Leukemia
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 9q34.2 Blood Group Incompatibility Malaria
ABR active BCR-related 17p13.3 Enamel Erosion
ABRA actin-binding Rho activating protein 8q23.1 Malaria
ABT1 activator of basal transcription 1 6p22.2 Roberts Syndrome,  Spinocerebellar Ataxia Type 17 Neuronal Intranuclear Inclusion Disease
AC004862.6 uncharacterized LOC101927269 7q21.11 Hepatocellular Carcinoma
AC007246.3 uncharacterized LOC728730 2p22.1 Obesity
AC007743.1 uncharacterized LOC100129434 2p16.1 Hiv-1
AC008697.1 uncharacterized LOC285626 5q33.3 Crohns Disease,  Multiple Sclerosis Psoriasis
AC009264.1 uncharacterized LOC349160 7q33 Migraine
AC009948.5 uncharacterized LOC101927027 2q31.2 Parkinsons Disease
AC017060.1 uncharacterized LOC101927630 7p21.1 Gastric Cancer
AC018647.3 uncharacterized LOC100506725 7p14.2 Parkinsons Disease
AC019117.1 uncharacterized LOC102659288 7p21.1 Intrahepatic Cholangiocarcinoma Cholangiocarcinoma
AC079586.1 uncharacterized LOC151121 2q21.1 Neutropenia
AC091878.1 uncharacterized LOC285696 5p15.1 Alzheimers Disease Bipolar Disorder
AC097662.2 uncharacterized LOC654841 2q36.3 Keratoconus
ACAA1 acetyl-CoA acyltransferase 1 3p22.2 Rhizomelic Chondrodysplasia Punctata,  Beta-Ketothiolase Deficiency,  Thiolase Deficiency Ketothiolase Deficiency Show all 4
ACAA2 acetyl-CoA acyltransferase 2 18q21.1 Akinetic Mutism,  Ketothiolase Deficiency,  Mutism Beta-Ketothiolase Deficiency Show all 4
ACACA acetyl-CoA carboxylase alpha 17q12 Acetyl-Coa Carboxylase Deficiency,  Multiple Carboxylase Deficiency Biotin Deficiency
ACACB acetyl-CoA carboxylase beta 12q24.11 Biotin Deficiency
ACAD11 acyl-CoA dehydrogenase family, member 11 3q22.1 Childhood Leukemia
ACAD8 acyl-CoA dehydrogenase family, member 8 11q25 Isobutyryl-Coa Dehydrogenase Deficiency
ACAD9 acyl-CoA dehydrogenase family, member 9 3q21.3 Acad9 Deficiency,  Acyl-Coa Dehydrogenase 9 Deficiency Mitochondrial Complex I Deficiency
ACADL acyl-CoA dehydrogenase, long chain 2q34 Lcad Deficiency,  Fatty Acid Oxidation Disorders Hypoglycemia
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1p31.1 Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency,  Fasting Hypoglycemia,  Fatty Acid Oxidation Disorders,  Alcoholic Cardiomyopathy,  Reye Syndrome,  Multiple Carboxylase Deficiency,  Hypoglycemia Sudden Infant Death Syndrome Show all 8
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 12q24.31 Infantile Hypotonia,  Short-Chain Acyl-Coa Dehydrogenase Deficiency,  Carotid Artery Dissection,  Ethylmalonic Encephalopathy,  Riboflavin Deficiency,  Diverticulitis,  Systemic Primary Carnitine Deficiency Disease,  Isovaleric Acidemia,  Fatty Acid Oxidation Disorders,  Sudden Infant Death Syndrome,  Hypotonia,  Autoimmune Thyroiditis Angina Pectoris Show all 13
ACADSB acyl-CoA dehydrogenase, short/branched chain 10q26.13 2-Methylbutyryl-Coa Dehydrogenase Deficiency Isovaleric Acidemia
ACADVL acyl-CoA dehydrogenase, very long chain 17p13.1 Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency,  Pericardial Effusion,  Fatty Acid Oxidation Disorders,  3-Hydroxyacyl-Coa Dehydrogenase Deficiency,  Carnitine Palmitoyltransferase Ii Deficiency,  Systemic Primary Carnitine Deficiency Disease Sudden Infant Death Syndrome Show all 7
ACAN aggrecan 15q26.1 Spondyloepimetaphyseal Dysplasia, Aggrecan Type,  Familial Osteochondritis Dissecans,  Osteochondritis Dissecans,  Odontogenic Myxoma,  Spondyloepiphyseal Dysplasia, Kimberley Type,  Spinal Stenosis,  Degenerative Disc Disease,  Pseudoachondroplasia,  Spondyloepimetaphyseal Dysplasia,  Multiple Epiphyseal Dysplasia,  Exotropia,  Short Stature,  Lumbar Disc Herniation Tendinopathy Show all 14
ACAT1 acetyl-CoA acetyltransferase 1 11q22.3 Lipid Metabolism Disorder,  Thiolase Deficiency,  Ketothiolase Deficiency,  Beta-Ketothiolase Deficiency,  Methionine Adenosyltransferase Deficiency,  Organic Acidemia,  The Organic Acidemias: An Sitosterolemia Show all 8
ACAT2 acetyl-CoA acetyltransferase 2 6q25.3 Acetyl Coa Acetyltransferase 2 Deficiency,  Thiolase Deficiency,  Beta-Ketothiolase Deficiency Ketothiolase Deficiency Show all 4
ACBD5 acyl-CoA binding domain containing 5 10p12.1 Thrombocytopenia
ACD adrenocortical dysplasia homolog (mouse) 16q22.1 Breast Cancer Susceptibility
ACE angiotensin I converting enzyme 17q23.3 Mesangioproliferative Glomerulopathy,  Microvascular Complications Of Diabetes 3,  Neurosarcoidosis,  Stroke, Hemorrhagic,  Renal Tubular Dysgenesis, Ace-Related,  Sars, Progression Of,  Alzheimers Disease,  Myocardial Infarction,  Hypertension,  Diabetic Nephropathy,  Renovascular Hypertension,  Hyporeninemic Hypoaldosteronism,  Vascular Disease,  Granulomatous Dermatitis,  Artery Disease,  Sarcoidosis,  Angioedema Induced By Ace Inhibitors,  Moderate And Severe Traumatic Brain Injury,  Left Ventricular Outflow Tract Obstruction,  Essential Hypertension,  Traumatic Brain Injury,  Nephrosclerosis,  Kanzaki Disease,  Acute Myocardial Infarction,  End Stage Renal Failure,  Polycystic Kidney Disease, Type 1,  Hypertensive Retinopathy,  Intestinal Tuberculosis,  Posterior Urethral Valves,  Hypoaldosteronism,  Syndrome Of Inappropriate Antidiuretic Hormone,  Diastolic Heart Failure,  Hypertensive Nephropathy,  Speech Disorder,  Acute Mountain Sickness,  Ischemic Optic Neuropathy,  Anterior Ischemic Optic Neuropathy,  Hepatoportal Sclerosis,  Aspiration Pneumonia,  Myocardial Infarction 2,  Normal Pressure Hydrocephalus,  Cardiac Sarcoidosis,  Congestive Heart Failure,  Coronary Restenosis,  Acute Myocarditis,  Iga Glomerulonephritis,  Cough Variant Asthma,  Renal Artery Disease,  Renal Hypertension,  Exophthalmos,  Renal Tubular Dysgenesis,  Arteritic Anterior Ischemic Optic Neuropathy,  Type 2 Diabetes Mellitus,  Transposition Of The Great Arteries,  Non-Arteritic Anterior Ischemic Optic Neuropathy,  Malignant Hypertension,  Subacute Cutaneous Lupus Erythematosus,  Eisenmenger Syndrome,  Cerebral Atherosclerosis,  Oligohydramnios,  Tropical Calcific Pancreatitis,  Fibromuscular Dysplasia,  Anuria,  Ischemic Heart Disease,  Arterial Calcification Of Infancy,  Urinary Tract Obstruction,  Mitral Valve Disease,  Brain Injury,  Alcoholic Cardiomyopathy,  Retinal Artery Occlusion,  Dilated Cardiomyopathy,  Proteinuria,  Atherosclerosis,  Ischemic Colitis,  Histoplasmosis,  Glomerulosclerosis,  Angioedema,  Hypoalphalipoproteinemia,  Hepatorenal Syndrome,  Aortic Coarctation Insulin Resistance Show all 81
ACE2 angiotensin I converting enzyme 2 Xp22.2 Neurogenic Hypertension,  Tetanus Neonatorum,  Hypertension,  Essential Hypertension,  Malaria,  Hartnup Disease,  Posterior Urethral Valves Severe Acute Respiratory Syndrome Show all 8
ACER1 alkaline ceramidase 1 19p13.3 Farber Lipogranulomatosis Lipogranulomatosis
ACER2 alkaline ceramidase 2 9p22.1 Farber Lipogranulomatosis Lipogranulomatosis
ACER3 alkaline ceramidase 3 11q13.5 Partial Fetal Alcohol Syndrome,  Fetal Alcohol Syndrome,  Farber Lipogranulomatosis Lipogranulomatosis Show all 4
ACF Asymmetric crying facies (Cayler cardiofacial syndrome) 22q11 Velocardiofacial Syndrome Alzheimers Disease
ACHE acetylcholinesterase (Yt blood group) 7q22.1 Colonic Pseudo-Obstruction,  Gastroschisis,  Wernicke-Korsakoff Syndrome,  Myasthenia Gravis,  Vascular Dementia,  Aplasia Cutis Congenita,  Postural Hypotension,  Endplate Acetylcholinesterase Deficiency,  Hypoganglionosis,  Anencephaly,  Cholinergic Urticaria,  Intestinal Pseudo-Obstruction,  Orthostatic Intolerance,  Irinotecan Toxicity,  Megacolon,  Intestinal Obstruction,  Schizophrenia,  Memory Impairment,  Alzheimers Disease,  Omphalocele,  Junctional Epidermolysis Bullosa,  Tendinosis,  Rem Sleep Behavior Disorder,  Abdominal Wall Defect,  Hypermethioninemia,  Dementia,  Hirschsprungs Disease,  Hypohidrosis,  Parkinsons Disease,  Anhidrosis Malaria Show all 31
ACIN1 apoptotic chromatin condensation inducer 1 14q11.2 Breast Adenomyoepithelioma
ACKR3 atypical chemokine receptor 3 2q37.3 Papillary Thyroid Carcinoma
ACKR4 atypical chemokine receptor 4 3q22.1 Pulmonary Sarcoidosis
ACLS acrocallosal syndrome 12p13.3-p11.2 Acrocallosal Syndrome,  Joubert Syndrome 12 Hydrolethalus Syndrome 2
ACO1 aconitase 1, soluble 9p21.1 Hyperferritinemia Cataract Syndrome,  X-Linked Sideroblastic Anemia X-Linked Sideroblastic Anemia With Ataxia
ACO2 aconitase 2, mitochondrial 22q13.2 Infantile Cerebellar-Retinal Degeneration,  Ornithine Translocase Deficiency Athetosis
ACOT11 acyl-CoA thioesterase 11 1p32.3 Obesity
ACOT13 acyl-CoA thioesterase 13 6p22.3 Larynx Verrucous Carcinoma Cutaneous Anthrax
ACOT7 acyl-CoA thioesterase 7 1p36.31 Fatty Acid Oxidation Disorders Temporal Lobe Epilepsy
ACOX1 acyl-CoA oxidase 1, palmitoyl 17q25.1 Pseudoneonatal Adrenoleukodystrophy,  Peroxisomal Acyl-Coa Oxidase Deficiency,  Anoxia,  Adrenoleukodystrophy,  D-Bifunctional Protein Deficiency Rhizomelic Chondrodysplasia Punctata Show all 6
ACOX3 acyl-CoA oxidase 3, pristanoyl 4p16.1 Mutism
ACP1 acid phosphatase 1, soluble 2p25.3 Okamoto Syndrome,  Bubonic Plague,  Tuberculosis,  Favism,  Noonan Syndrome,  Polycythemia Vera,  Leopard Syndrome,  Insulin Resistance Malaria Show all 9
ACP2 acid phosphatase 2, lysosomal 11p11.2 Lysosomal Acid Phosphatase Deficiency
ACP5 acid phosphatase 5, tartrate resistant 19p13.2 Spondyloenchondrodysplasia With Immune Dysregulation,  Spondyloenchondrodysplasia,  Pigmented Villonodular Synovitis,  Villonodular Synovitis,  Hairy Cell Leukemia,  Giant Cell Tumor,  Osteomyelitis,  Synovitis,  Gauchers Disease,  Juvenile Rheumatoid Arthritis,  Camurati-Engelmann Disease,  Renal Osteodystrophy,  Osteoporosis,  Osteonecrosis,  Hyperthyroidism,  Hyperparathyroidism,  Metaphyseal Dysplasia,  Osteoporosis, Postmenopausal Rheumatoid Arthritis Show all 19
ACP6 acid phosphatase 6, lysophosphatidic 1q21.2 Atrioventricular Septal Defect
ACPP acid phosphatase, prostate 3q22.1 Nephrogenic Adenoma Of The Urethra,  Prostatic Hypertrophy,  Prostatic Adenoma,  Histoplasmosis,  Lymphoepithelioma-Like Carcinoma,  Nephrogenic Adenoma,  Endodermal Sinus Tumor,  Prostatitis,  Adenomatoid Tumor,  Cloacogenic Carcinoma,  Malignant Fibroxanthoma,  Intravascular Large B-Cell Lymphoma,  Varicocele,  Prostate Cancer Male Breast Cancer Show all 15
ACPT acid phosphatase, testicular 19q13.33 Prostate Cancer Testicular Cancer
ACR acrosin 22q13.33 Male Infertility Due To Acrosin Deficiency Globozoospermia
ACRBP acrosin binding protein 12p13.31 Arteriolosclerosis
ACRC acidic repeat containing Xq13.1 Appendix Adenocarcinoma
ACRPS Acropectoral syndrome 7q36 Acropectoral Syndrome
ACRPV Acropectorovertebral dysplasia (F syndrome) 2q36 Acropectorovertebral Dysplasia F Form
ACRV1 acrosomal vesicle protein 1 11q24.2 Hordeolum
ACSF3 acyl-CoA synthetase family member 3 16q24.3 Combined Malonic And Methylmalonic Aciduria Methylmalonic Acidemia
ACSL3 acyl-CoA synthetase long-chain family member 3 2q36.1 Saethre-Chotzen Syndrome
ACSL4 acyl-CoA synthetase long-chain family member 4 Xq23 Alport Syndrome - Intellectual Disability - Midface Hypoplasia - Elliptocytosis,  Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis,  Mental Retardation,  Colon Adenocarcinoma,  Mental Retardation, X-Linked 29 And Others,  Alport Syndrome Mental Retardation, X-Linked Show all 7
ACSL5 acyl-CoA synthetase long-chain family member 5 10q25.2 Colorectal Cancer
ACSL6 acyl-CoA synthetase long-chain family member 6 5q31.1 Myelodysplastic Syndromes Acute Myeloid Leukemia, Adult
ACSM3 acyl-CoA synthetase medium-chain family member 3 16p12.3 Essential Hypertension Hypertension
ACSS3 acyl-CoA synthetase short-chain family member 3 12q21.31 Fetal Alcohol Syndrome
ACT actin-like protein (ACT) gene 2q21.1 Cerebrovascular Disease, Occlusive Alpha-1-Antichymotrypsin Deficiency
ACTA1 actin, alpha 1, skeletal muscle 1q42.13 Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments,  Nemaline Myopathy 3,  Intranuclear Rod Myopathy,  Listeriosis,  Myopathy,  Myopathy, Congenital, With Fiber-Type Disproportion 1,  Intermediate Nemaline Myopathy,  Typical Nemaline Myopathy,  Nemaline Myopathy 3, Autosomal Dominant Or Recessive,  Myopathy, Actin, Congenital, With Cores,  Acta1-Related Congenital Fiber-Type Disproportion,  Actin-Accumulation Myopathy,  Childhood Restrictive Cardiomyopathy,  Acta1-Related Nemaline Myopathy,  Congenital Fiber-Type Disproportion,  Childhood-Onset Nemaline Myopathy,  Nance-Horan Syndrome,  Severe Congenital Nemaline Myopathy,  Nemaline Myopathy,  Nemaline Myopathy 5, Amish Type Cap Myopathy Show all 21
ACTA2 actin, alpha 2, smooth muscle, aorta 10q23.31 Multisystemic Smooth Muscle Dysfunction Syndrome,  Aortic Aneurysm, Familial Thoracic 6,  Moyamoya Disease 5,  Thoracic Aortic Aneurysm,  Aortic Aneurysm,  Acta2-Related Thoracic Aortic Aneurysms And Aortic Dissections,  Familial Thoracic Aortic Aneurysm And Dissection,  Aneurysm,  Moyamoya Disease,  Thoracic Aortic Aneurysms And Aortic Dissections,  Aortic Aneurysm, Familial Thoracic 4,  Scar Contracture Aortic Disease Show all 13
ACTB actin, beta 7p22.1 Juvenile-Onset Dystonia,  Baraitser-Winter Syndrome 1,  Baraitser-Winter Syndrome,  Chorea-Acanthocytosis Acanthocytosis Show all 5
ACTC1 actin, alpha, cardiac muscle 1 15q14 Atrial Septal Defect 5,  Left Ventricular Noncompaction 4,  Disseminated Peritoneal Leiomyomatosis,  Myxoid Leiomyosarcoma,  Glomangiomyoma,  Bizarre Leiomyoma,  Myofibroma,  Malignant Giant Cell Tumor Of Soft Parts,  Malignant Giant Cell Tumor,  Intravenous Leiomyomatosis,  Ovarian Fibrothecoma,  Scleromyxedema,  Perivascular Epithelioid Cell Tumor,  Myoepithelioma,  Botryoid Rhabdomyosarcoma,  Angiocentric Glioma,  Fasciitis,  Benign Schwannoma,  Pulmonary Vein Stenosis,  Chickenpox,  Granulosa Cell Tumor Of The Ovary,  Cystic Nephroma,  Actc1-Related Familial Hypertrophic Cardiomyopathy,  Cardiomyopathy, Familial Hypertrophic, 11,  Cardiomyopathy, Dilated, 1R,  Actc1-Related Dilated Cardiomyopathy,  Sweat Gland Carcinoma,  Sarcomatoid Renal Cell Carcinoma,  Juvenile Nasopharyngeal Angiofibroma,  Horseshoe Kidney,  Leiomyosarcoma,  Adenosarcoma,  Giant Cell Tumor,  Benign Metastasizing Leiomyoma,  Ossifying Fibromyxoid Tumor,  Syringocystadenoma Papilliferum,  Spindle Cell Lipoma,  Spiradenoma,  Fibroma,  Epithelioid Leiomyosarcoma,  Endometrial Stromal Sarcoma,  Cutaneous Leiomyosarcoma,  Polymorphous Low-Grade Adenocarcinoma,  Cavernous Hemangioma,  Dendritic Cell Tumor,  Mucinous Cystadenocarcinoma,  Infantile Myofibromatosis,  Pyogenic Granuloma,  Hemangioma,  Sarcomatoid Mesothelioma,  Glomangioma,  Gastrointestinal Stromal Tumor,  Solitary Fibrous Tumor,  Rhabdoid Tumor,  Desmoid Tumor,  Anaplastic Ganglioglioma,  Dilated Cardiomyopathy,  Leiomyoma,  Patent Foramen Ovale,  Teratoma,  Mesenchymal Chondrosarcoma,  Chondromyxoid Fibroma,  Multiple Endocrine Neoplasia Type 2A,  Binswangers Disease,  Smooth Muscle Tumor,  Histiocytoma,  Ductal Carcinoma In Situ,  Dermatofibrosarcoma Protuberans,  Lymphangioma,  Multicystic Dysplastic Kidney,  Desmoplastic Small Round Cell Tumor,  Papilloma,  Hypertrophic Cardiomyopathy,  Lipomatosis,  Carney Triad,  Sclerosing Hemangioma,  Leiomyomatosis,  Familial Hypertrophic Cardiomyopathy,  Inflammatory Myofibroblastic Tumor,  Somatostatinoma,  Dedifferentiated Liposarcoma,  Spindle Cell Carcinoma,  Ganglioglioma,  Hemangiopericytoma,  Angiomyolipoma,  Pulmonary Sclerosing Hemangioma,  Malignant Peripheral Nerve Sheath Tumor,  Histiocytosis,  Angiosarcoma,  Cystic Teratoma,  Klebsiella,  Cardiomyopathy, Dilated, 1Ii Cardiomyopathy, Dilated, 1E Show all 93
ACTG1 actin, gamma 1 17q25.3 Baraitser-Winter Syndrome 2,  Baraitser-Winter Syndrome,  Dfna20/26 Nonsyndromic Hearing Loss And Deafness,  Deafness, Autosomal Dominant 20/26,  Deafness, Autosomal Dominant 3B,  Baraitser-Winter Syndrome 1,  Usher Syndrome Type I Charcot-Marie-Tooth Disease Type 2 Show all 8
ACTG2 actin, gamma 2, smooth muscle, enteric 2p13.1 Visceral Myopathy,  Megacystis Microcolon Intestinal Hypoperistalsis Syndrome,  Myopathic Intestinal Pseudoobstruction Legg-Calve-Perthes Disease Show all 4
ACTL7A actin-like 7A 9q31.3 Riley-Day Syndrome,  Breast Cancer Susceptibility Hypertensive Nephropathy
ACTL7B actin-like 7B 9q31.3 Riley-Day Syndrome Hypertensive Nephropathy
ACTL9 actin-like 9 19p13.2 Breast And Colorectal Cancer
ACTN1 actinin, alpha 1 14q24.1 Bleeding Disorder, Platelet-Type, 15 Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant
ACTN2 actinin, alpha 2 1q43 Actn2-Related Familial Hypertrophic Cardiomyopathy,  Cardiomyopathy, Dilated, 1Aa,  Actn2-Related Dilated Cardiomyopathy,  Endocardial Fibroelastosis,  Infantile Onset Spinocerebellar Ataxia,  Familial Hypertrophic Cardiomyopathy,  Dilated Cardiomyopathy Cardiomyopathy, Dilated, 1Ii Show all 8
ACTN3 actinin, alpha 3 (gene/pseudogene) 11q13.2 Dystrophinopathies Arrhythmogenic Right Ventricular Cardiomyopathy
ACTN4 actinin, alpha 4 19q13.2 Glomerulosclerosis,  Focal Segmental Glomerulosclerosis,  Nephrotic Syndrome Type 3,  Frasier Syndrome,  Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis,  Nephrosis Nephrotic Syndrome Show all 7
ACTR2 ARP2 actin-related protein 2 homolog (yeast) 2p14 Wiskott-Aldrich Syndrome
ACTR3BP6 ACTR3B pseudogene 6 22q11.1 Hiv-1
ACTR3C ARP3 actin-related protein 3 homolog C (yeast) 7q36.1 Lung Adenoma
ACVR1 activin A receptor, type I 2q24.1 Fibrodysplasia Ossificans Progressiva Osteochondroma
ACVR1B activin A receptor, type IB 12q13.13 Pituitary Tumors,  Pancreatic Cancer Pancreatic Carcinoma, Somatic
ACVR1C activin A receptor, type IC 2q24.1 Myositis Ossificans
ACVR2A activin A receptor, type IIA 2q22.3 Multiple Synostoses Syndrome
ACVR2B activin A receptor, type IIB 3p22.2 Heterotaxy, Visceral, 4, Autosomal,  Acvr2B-Related Visceral Heterotaxy,  Heterotaxy,  Left-Right Axis Malformations,  Dextrocardia Visceral Heterotaxy Show all 6
ACVRL1 activin A receptor type II-like 1 12q13.13 Hereditary Hemorrhagic Telangiectasia Type 2,  Pulmonary Arteriovenous Malformation,  Mixed Connective Tissue Disease,  Angiodysplasia,  Acvrl1-Related Hereditary Hemorrhagic Telangiectasia,  Arteriovenous Malformation,  Weber Syndrome,  Connective Tissue Disease,  Telangiectasis,  Primary Pulmonary Hypertension,  Telangiectasia, Hereditary Hemorrhagic, Type 5,  Heritable Pulmonary Arterial Hypertension,  Lymphomatoid Papulosis,  Hereditary Hemorrhagic Telangiectasia,  Inflammatory Myofibroblastic Tumor,  Klippel-Trenaunay Syndrome,  Anaplastic Large Cell Lymphoma Pulmonary Hypertension Show all 18
ACY1 aminoacylase 1 3p21.2 Aminoacylase 1 Deficiency,  Syringomyelia,  Systolic Heart Failure,  Lung Cancer Greig Cephalopolysyndactyly Syndrome Show all 5
ACY3 aspartoacylase (aminocyclase) 3 11q13.2 Hepatitis C,  Hepatitis C Virus Hepatitis
AD10 Alzheimer disease-10 7q36 Alzheimers Disease Alzheimer Disease-10
AD11 Alzheimer disease-11 9p22.1 Alzheimer Disease-11 Alzheimers Disease
AD12 Alzheimer disease 12 8p12-q22 Alzheimer Disease 12 Alzheimers Disease
AD13 Alzheimer disease-13 1q21 Alzheimer Disease-13 Alzheimers Disease
AD14 Alzheimer disease 14 1q25 Alzheimer Disease-14 Alzheimers Disease
AD15 Alzheimer disease-15 3q22-q24 Alzheimer Disease-15 Alzheimers Disease
AD16 Alzheimer disease 16 Xq21.3 Alzheimer Disease 16 Alzheimers Disease
AD17 Alzheimer disease 17 6p21.2 Alzheimer Disease 17 Alzheimers Disease
AD5 Alzheimer disease 5 12p11.23-q13.12 Alzheimers Disease Alzheimer Disease Type 5
AD6 Alzheimer disease 6 10q Alzheimers Disease Alzheimer Disease 6
AD7 Alzheimer disease 7 10p13 Alzheimer Disease-7 Alzheimers Disease
AD8 Alzheimer disease 8 20p Alzheimers Disease Alzheimer Disease 8
AD9 Alzheimer disease 9 19p13.2 Alzheimers Disease Alzheimer Disease 9, Late Onset
ADA adenosine deaminase 20q13.12 Listeria Meningitis,  Cauda Equina Syndrome,  Tuberculous Peritonitis,  Intestinal Tuberculosis,  Pleural Tuberculosis,  Adenosine Deaminase Deficiency,  Pleurisy,  Congenital Hemolytic Anemia,  Miliary Tuberculosis,  Peritonitis,  Meningitis,  Aseptic Meningitis,  Pericardial Effusion,  Tuberculous Meningitis,  Extrapulmonary Tuberculosis,  Partial Adenosine Deaminase Deficiency,  Pericarditis,  Reticular Dysgenesis,  Constrictive Pericarditis,  Tuberculosis,  Severe Combined Immunodeficiency,  Abdominal Tuberculosis,  Viral Encephalitis,  Cardiac Tamponade,  Gauchers Disease,  Omenn Syndrome,  Legionnaires Disease,  Cerebral Lymphoma,  Pulmonary Tuberculosis,  Purine Nucleoside Phosphorylase Deficiency,  Inosine Triphosphate Pyrophosphohydrolase Deficiency,  Primary Immunodeficiency Disease,  Hairy Cell Leukemia,  Brucellosis,  Hemolytic Anemia,  Behcets Disease,  Bacterial Meningitis,  Acquired Immunodeficiency Syndrome,  Macroglobulinemia Malaria Show all 40
ADAL adenosine deaminase-like 15q15.3 Epididymitis
ADAM10 ADAM metallopeptidase domain 10 15q21.3 Dowling-Degos Disease,  Alzheimer Disease 18,  Alzheimers Disease,  Dowling-Degos Disease 1 Degos Disease Show all 5
ADAM11 ADAM metallopeptidase domain 11 17q21.31 Breast Cancer
ADAM17 ADAM metallopeptidase domain 17 2p25.1 Inflammatory Skin And Bowel Disease, Neonatal, 1,  Heterotaxy Dilated Cardiomyopathy
ADAM21P1 ADAM metallopeptidase domain 21 pseudogene 1 14q24.2 Adult T-Cell Leukemia
ADAM22 ADAM metallopeptidase domain 22 7q21.12 Limbic Encephalitis
ADAM33 ADAM metallopeptidase domain 33 20p13 Asthma
ADAM3A ADAM metallopeptidase domain 3A (pseudogene) 8p11.22 Composite Lymphoma
ADAM7 ADAM metallopeptidase domain 7 8p21.2 Melanoma
ADAM8 ADAM metallopeptidase domain 8 10q26.3 Asthma
ADAM9 ADAM metallopeptidase domain 9 8p11.22 Cone-Rod Dystrophy 9,  Myeloma,  Cone-Rod Dystrophy 2,  Cone-Rod Dystrophy Skin Melanoma Show all 5
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 21q21.3 Type 2A Von Willebrand Disease
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 19p13.2 Weill-Marchesani Syndrome 1, Recessive,  Adamts10-Related Weill-Marchesani Syndrome Weill-Marchesani Syndrome
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 9q34.2 Thrombotic Thrombocytopenic Purpura, Congenital,  Evans Syndrome,  Thrombotic Thrombocytopenic Purpura,  Purpura,  Familial Thrombotic Thrombocytopenia Purpura,  Malignant Hypertension,  Catastrophic Antiphospholipid Syndrome,  Type 1 Von Willebrand Disease,  Malaria,  Type 2B Von Willebrand Disease,  Von Willebrands Disease,  Antiphospholipid Syndrome,  Hellp Syndrome,  Disseminated Intravascular Coagulation Myocardial Infarction Show all 15
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 15q26.3 Weill-Marchesani-Like Syndrome Weill-Marchesani Syndrome
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 16q23.1 Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus,  Carotid Artery Occlusion Knobloch Syndrome
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 5q35.3 Ehlers-Danlos Syndrome Dermatosparaxis Type Anosognosia
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 12q12 Weill-Marchesani Syndrome
ADAMTSL1 ADAMTS-like 1 9p22.2 Malaria,  Quebec Platelet Disorder,  Colonic Disease Pseudoachondroplasia Show all 4
ADAMTSL2 ADAMTS-like 2 9q34.2 Geleophysic Dysplasia 1,  Geleophysic Dysplasia,  Geleophysic Dwarfism,  Tracheal Stenosis Weill-Marchesani Syndrome Show all 5
ADAMTSL3 ADAMTS-like 3 15q25.2 Colorectal Cancer
ADAMTSL4 ADAMTS-like 4 1q21.3 Ectopia Lentis Et Pupillae,  Adamtsl4-Related Eye Disorders,  Ectopia Lentis, Isolated Autosomal Recessive,  Weill-Marchesani Syndrome Isolated Ectopia Lentis Show all 5
ADAP2 ArfGAP with dual PH domains 2 17q11.2 Gastrointestinal Lymphoma
ADAR adenosine deaminase, RNA-specific 1q21.3 Aicardi-Goutieres Syndrome 6,  Steatitis,  Human T-Cell Leukemia Virus Type 2,  Dyschromatosis Symmetrica Hereditaria 1,  Dyschromatosis Universalis Hereditaria,  Lymphocytic Choriomeningitis,  Aicardi-Goutieres Syndrome 1, Dominant And Recessive,  Aicardi-Goutieres Syndrome,  Early Onset Absence Epilepsy Striatonigral Degeneration Infantile Show all 10
ADAT3 adenosine deaminase, tRNA-specific 3 19p13.3 Mental Retardation, Autosomal Recessive 36 Breast And Colorectal Cancer
ADCK2 aarF domain containing kinase 2 7q34 Klippel-Feil Syndrome
ADCK3 aarF domain containing kinase 3 1q42.13 Coenzyme Q10 Deficiency, Primary, 4,  Spinocerebellar Ataxia, Autosomal Recessive, 9 Cabc1-Related Coenzyme Q10 Deficiency
ADCK4 aarF domain containing kinase 4 19q13.2 Nephrotic Syndrome, Type 9,  Nephrotic Syndrome Type 3 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis
ADCY1 adenylate cyclase 1 (brain) 7p12.3 Adenoma,  Deafness, Digenic, Gjb2/gjb3 Deafness, Autosomal Recessive 44
ADCY10 adenylate cyclase 10 (soluble) 1q24.2 Hypercalciuria, Absorptive,  Cholera,  Albrights Hereditary Osteodystrophy,  Adrenal Carcinoma,  Neonatal Hypothyroidism,  Morphine Dependence,  Brain Ischemia,  Neuroblastoma Humoral Hypercalcemia Of Malignancy Show all 9
ADCY2 adenylate cyclase 2 (brain) 5p15.31 Adenoma Mccune Albright Syndrome
ADCY3 adenylate cyclase 3 2p23.3 Thyroid Adenoma,  Adenoma Precocious Puberty
ADCY4 adenylate cyclase 4 14q12 Adenoma
ADCY5 adenylate cyclase 5 3q21.1 Dyskinesia, Familial, With Facial Myokymia,  Myokymia,  Adenoma,  Thyroid Adenoma Precocious Puberty Show all 5
ADCY6 adenylate cyclase 6 12q13.12 Thyroid Adenoma,  Adenoma,  Precocious Puberty Hypomyelination Neuropathy - Arthrogryposis Show all 4
ADCY7 adenylate cyclase 7 16q12.1 Adenoma
ADCY8 adenylate cyclase 8 (brain) 8q24.22 Adenoma,  Thyroid Adenoma Precocious Puberty
ADCY9 adenylate cyclase 9 16p13.3 Adenoma,  Thyroid Adenoma,  Rubinstein-Taybi Syndrome Precocious Puberty Show all 4
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) 18p11.32 Post-Traumatic Stress Disorder,  Carpal Tunnel Syndrome,  Sudden Infant Death Syndrome,  Chronic Fatigue Syndrome,  Hirschsprungs Disease Schizophrenia Show all 6
ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 7p14.3 Post-Traumatic Stress Disorder
ADD1 adducin 1 (alpha) 4p16.3 Hypertension, Essential, Salt-Sensitive,  Gastroschisis,  Dehydrated Hereditary Stomatocytosis,  Essential Hypertension,  Low Renin Hypertension Endolymphatic Hydrops Show all 6
ADD2 adducin 2 (beta) 2p13.3 Capillariasis,  Hypertension,  Exhibitionism,  Dehydrated Hereditary Stomatocytosis,  Endolymphatic Hydrops,  Hereditary Elliptocytosis,  Chorea-Acanthocytosis Acanthocytosis Show all 8
ADD3 adducin 3 (gamma) 10q25.1 Hypertension,  Dyscalculia,  Cerebral Palsy, Spastic Quadriplegic, 1,  Endolymphatic Hydrops Hereditary Elliptocytosis Show all 5
ADFN albinism-deafness syndrome Xq25-q26|Xq26.3-q27.1 Albinism Deafness Syndrome
ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide 4q23 Alcohol Dependence Fetal Alcohol Syndrome
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide 4q23 Alcohol-Related Birth Defect,  Alcohol Dependence, Protection Against,  Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against,  Fetal Alcohol Syndrome,  Liver Cirrhosis,  Alcohol Dependence,  Alcoholic Liver Cirrhosis Pancreatitis Show all 8
ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide 4q23 Liver Cirrhosis,  Parkinsons Disease,  Alcoholic Liver Cirrhosis,  Lrrk2-Related Parkinson Disease,  Alcohol Dependence,  Alcohol Abuse,  Alcohol Dependence, Protection Against,  Oral Cancer Pancreatitis Show all 9
ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide 4q23 Alcoholic Liver Cirrhosis,  Alcohol Dependence,  Headache Substance Abuse Show all 4
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide 4q23 Methanol Poisoning,  Contact Dermatitis,  Pharyngitis,  Focal Dermal Hypoplasia,  Dermatitis Rhinitis Show all 6
ADH5P4 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 4 6q12 Hiv-1
ADH6 alcohol dehydrogenase 6 (class V) 4q23 Alcohol Dependence Fetal Alcohol Spectrum Disorder
ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 4q23 Gastritis,  Atrophic Gastritis,  Alcohol Dependence,  Headache Squamous Cell Carcinoma Of The Head And Neck Show all 5
ADHD1 Attention deficit-hyperactivity disorder, susceptibility to, 1 16p13 Attention Deficit Hyperactivity Disorder
ADHD2 Attention deficit-hyperactivity disorder, susceptibility to, 2 17p11 Attention Deficit Hyperactivity Disorder
ADHD3 Attention deficit-hyperactivity disorder, susceptibility to, 2 6q12 Attention Deficit Hyperactivity Disorder
ADHD4 Attention deficit-hyperactivity disorder, susceptibility to, 4 5p13 Attention Deficit Hyperactivity Disorder
ADIPOQ adiponectin, C1Q and collagen domain containing 3q27.3 Acdc,  Chronic Pulmonary Heart Disease,  Adiponectin Deficiency,  Hypertensive Retinopathy,  Acquired Generalized Lipodystrophy,  Arteriosclerosis Obliterans,  Arteriosclerosis,  Insulin Resistance,  Metabolic Syndrome X,  Type 2 Diabetes Mellitus,  Sleep Apnea,  Carotid Intimal Medial Thickness,  Berardinelli-Seip Congenital Lipodystrophy,  Idiopathic Recurrent Pericarditis,  Obesity,  Arteriolosclerosis,  Laron Syndrome,  Liver Disease,  Lipoatrophic Diabetes,  Nonalcoholic Steatohepatitis,  Glucose Intolerance,  Familial Partial Lipodystrophy,  Polycystic Ovary Syndrome,  Pre-Eclampsia Lipodystrophy Show all 25
ADIPOR1 adiponectin receptor 1 1q32.1 Insulin Resistance,  Nonalcoholic Steatohepatitis Obesity
ADIPOR2 adiponectin receptor 2 12p13.33 Insulin Resistance,  Meconium Ileus In Cystic Fibrosis,  Meconium Ileus Obesity Show all 4
ADIPQTL2 Circulating adiponectin QTL on chromosome 5 Adiponectin, Serum Level Of, Qtl2
ADIPQTL3 Circulating adiponectin QTL on chromosome 14 Adiponectin, Serum Level Of, Qtl3
ADIPQTL4 Adiponectin, serum level of, QTL4 11q23-q24 Adiponectin, Serum Level Of, Qtl4 Systemic Lupus Erythematosus
ADIPQTL5 Adiponectin, serum level of, QTL5 16q23.3 Adiponectin, Serum Level Of, Qtl5]
ADIRF adipogenesis regulatory factor 10q23.2 Obesity
ADK adenosine kinase 10q22.2 Hypermethioninemia Due To Adenosine Kinase Deficiency,  Ischemia,  Hypermethioninemia Rasmussen Encephalitis Show all 4
ADM adrenomedullin 11p15.4 Nephrosclerosis,  Malignant Hypertension,  Choroid Plexus Carcinoma,  Al Amyloidosis,  Pheochromocytoma,  Diabetic Retinopathy,  Macular Holes,  Cerebral Artery Occlusion,  Oligohydramnios,  Adrenomyeloneuropathy,  Essential Hypertension,  Functioning Pituitary Adenoma,  Pulmonary Hypertension,  Leiomyoma,  Primary Pulmonary Hypertension,  Myocardial Infarction,  Acute Myocardial Infarction,  Non-Functioning Pituitary Adenoma,  Pituitary Adenoma,  Congestive Heart Failure,  Kawasaki Disease Hypertension Show all 22
ADNP activity-dependent neuroprotector homeobox 20q13.13 Mental Retardation, Autosomal Dominant, 28
ADORA1 adenosine A1 receptor 1q32.1 Brain Ischemia,  Ischemia,  Transient Cerebral Ischemia Retinal Ischemia Show all 4
ADORA2A adenosine A2a receptor 22q11.23 Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion,  Ischemia,  Parkinsons Disease,  Huntingtons Disease,  Migraine With Aura Schizophrenia Show all 6
ADORA2B adenosine A2b receptor 17p12 Priapism
ADORA3 adenosine A3 receptor 1p13.2 Ischemia Brain Ischemia
ADPGK ADP-dependent glucokinase 15q24.1 Type 1 Diabetes Mellitus Monogenic Diabetes
ADPRH ADP-ribosylarginine hydrolase 3q13.33 Glycine N-Methyltransferase Deficiency,  Malaria,  Mucolipidosis Ii,  Tyrosinemia Kidney Cancer Show all 5
ADRA1A adrenoceptor alpha 1A 8p21.2 Ureterolithiasis Attention Deficit Hyperactivity Disorder
ADRA1B adrenoceptor alpha 1B 5q33.3 Ureterolithiasis
ADRA1D adrenoceptor alpha 1D 20p13 Alpha 1-Antitrypsin Deficiency Impotence
ADRA2A adrenoceptor alpha 2A 10q25.2 Motion Sickness,  Cholera,  Orthostatic Intolerance,  Attention Deficit Hyperactivity Disorder,  Gilles De La Tourette Syndrome,  Systolic Heart Failure,  Constipation,  Irritable Bowel Syndrome,  Schizophrenia Obesity Show all 10
ADRA2B adrenoceptor alpha 2B 2q11.1 Coronary Restenosis,  Orthostatic Intolerance,  Obesity,  Morbid Obesity,  Type 2 Diabetes Mellitus,  Epilepsy, Familial Adult Myoclonic, 5,  Essential Hypertension Neurologic Diseases Show all 8
ADRA2C adrenoceptor alpha 2C 4p16.3 Congestive Heart Failure And Beta-Blocker Response, Modifier Of,  Orthostatic Intolerance,  Congestive Heart Failure,  Irritable Bowel Syndrome,  Attention Deficit Hyperactivity Disorder,  Mood Disorder,  Neurologic Diseases Dyspepsia Show all 8
ADRB1 adrenoceptor beta 1 10q25.3 Aortic Coarctation,  Chagas Disease,  Neuroepithelioma,  Endomyocardial Fibrosis,  Meningococcal Infection,  Congestive Heart Failure,  Obstructive Sleep Apnea,  Essential Hypertension,  Orthostatic Intolerance,  Congestive Heart Failure And Beta-Blocker Response, Modifier Of,  Syncope,  Dilated Cardiomyopathy,  Myocarditis,  Myocardial Infarction,  Obesity Morbid Obesity Show all 16
ADRB2 adrenoceptor beta 2, surface 5q32 Status Asthmaticus,  Asthma, Nocturnal,  Beta-2-Adrenoreceptor Agonist, Reduced Response To,  Obesity,  Asthma,  Morbid Obesity,  Acute Mountain Sickness,  Pain Disorder,  Aortic Coarctation,  Whim Syndrome,  Thyrotoxic Periodic Paralysis,  Orthostatic Intolerance,  Acute Insulin Response,  Obesity, Severe, And Type Ii Diabetes,  Obesity, Autosomal Dominant,  Obesity, Late-Onset,  Obesity, Early-Onset,  Obesity, Association With,  Obesity, Variation In,  Obesity, Mild, Early-Onset,  Essential Hypertension,  Dilated Cardiomyopathy Myocardial Infarction Show all 23
ADRB3 adrenoceptor beta 3 8p11.23 Obesity,  Morbid Obesity,  Insulin Resistance,  Glucose Intolerance,  Type 2 Diabetes Mellitus,  Hyperuricemia,  Obesity, Severe, And Type Ii Diabetes,  Obesity, Autosomal Dominant,  Obesity, Late-Onset,  Obesity, Early-Onset,  Obesity, Association With,  Obesity, Variation In,  Obesity, Mild, Early-Onset Essential Hypertension Show all 14
ADRBK2 adrenergic, beta, receptor kinase 2 22q12.1 Whim Syndrome
ADSL adenylosuccinate lyase 22q13.1 Adenylosuccinase Deficiency,  Adenylosuccinate Lyase Deficiency,  Lesch-Nyhan Syndrome,  Histidinemia,  Rosacea,  Dihydropyrimidine Dehydrogenase Deficiency Gout Show all 7
ADSS adenylosuccinate synthase 1q44 Relapsing Fever
AEBP1 AE binding protein 1 7p13 Glioblastoma Gastroschisis
AES amino-terminal enhancer of split 19p13.3 Autoimmune Polyendocrine Syndrome Type 2
AFA ankyloblepharon filiforme adnatum reserved Imperforate Anus
AFA1 Alopecia, androgenetic 3q26 Alopecia, Androgenetic, 1
AFAP1L1 actin filament associated protein 1-like 1 5q32 Spindle Cell Sarcoma
AFD1 acrofacial dysostosis 1, Nager type 9q32 Nager Acrofacial Dysostosis
AFF1 AF4/FMR2 family, member 1 4q21.3 Leukemia, Acute Lymphoblastic 3,  Acute Lymphoblastic Leukemia Chronic Neutrophilic Leukemia
AFF2 AF4/FMR2 family, member 2 Xq28 Spotted Fever,  Mental Retardation,  Fragile X Syndrome X-Linked Disease Show all 4
AFF3 AF4/FMR2 family, member 3 2q11.2 Fibular Aplasia
AFF4 AF4/FMR2 family, member 4 5q31.1 Acute Lymphoblastic Leukemia Lymphoblastic Leukemia
AFG3L2 AFG3-like AAA ATPase 2 18p11.21 Spinocerebellar Ataxia Type 28,  Ataxia, Spastic, 5, Autosomal Recessive,  Spinocerebellar Ataxia Type28,  Hereditary Ataxia,  Hereditary Spastic Paraplegia Ataxia Show all 6
AFM afamin 4q13.3 Squamous Papillomatosis Trigonitis
AFP alpha-fetoprotein 4q13.3 Pineal Region Teratoma,  Spina Bifida Aperta,  Growing Teratoma Syndrome,  Gliomatosis Peritonei,  Cutis Marmorata Telangiectatica Congenita,  Testicular Yolk Sac Tumor,  Hereditary Persistence Of Alpha-Fetoprotein,  Polyembryoma,  Malignant Sertoli Cell Tumor,  Liver Sarcoma,  Malignant Mixed Mullerian Tumor,  Germ Cell Cancer,  Extragonadal Germ Cell Tumor,  Mixed Germ Cell Tumor,  Endodermal Sinus Tumor,  Edwards Syndrome,  Teratoma,  Anencephaly,  Testicular Cancer,  Alpha-Fetoprotein Deficiency,  Oligohydramnios,  Sacrococcygeal Teratoma,  Pancreatoblastoma,  Nonseminomatous Germ Cell Tumor,  Hepatoblastoma,  Mature Teratoma,  Acinar Cell Carcinoma,  Placenta Accreta,  Urachal Adenocarcinoma,  Ataxia With Oculomotor Apraxia Type 2,  Cholangiocarcinoma,  Citrin Deficiency,  Liver Cancer,  Spina Bifida,  Polyhydramnios,  Sertoli-Leydig Cell Tumor,  Cystic Lymphangioma,  Hydrocele,  Neonatal Intrahepatic Cholestasis Caused By Citrin Deficiency,  Sertoli Cell Tumor,  Tyrosinemia,  Central Nervous System Germ Cell Tumor,  Abdominal Wall Defect,  Omphalocele,  Gastroschisis,  Viral Hepatitis,  Patau Syndrome,  Tyrosinemia Type I,  Dysgerminoma,  Neural Tube Defects,  Epidermolysis Bullosa With Pyloric Atresia,  Testicular Microlithiasis,  Hemihypertrophy,  Clear Cell Adenocarcinoma,  Liver Disease,  Leydig Cell Tumor,  Dedifferentiated Liposarcoma Apraxia Show all 58
AGA aspartylglucosaminidase 4q34.3 Aspartylglucosaminuria,  Lysosomal Storage Disease,  Angiokeratoma,  Fucosidosis,  Galactosemia Rubella Show all 6
AGA2 Alopecia, androgenetic, 2 Xq11-q12 Alopecia, Androgenetic, 2 Alopecia
AGA3 Alopecia, androgenetic, 3 20p11.22 Alopecia, Androgenetic, 3
AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 12q14.1 Diphyllobothriasis Anisakiasis
AGBL1 ATP/GTP binding protein-like 1 15q25.3 Corneal Dystrophy, Fuchs Endothelial, 8 Corneal Dystrophy, Fuchs Endothelial, 4
AGER advanced glycosylation end product-specific receptor 6p21.32 Diabetic Angiopathy,  Noma,  Obstructive Lung Disease,  Diabetic Nephropathy,  Vascular Disease,  Leukostasis Type 2 Diabetes Mellitus Show all 7
AGFG1 ArfGAP with FG repeats 1 2q36.3 Hiv-1,  Griscelli Syndrome Choroideremia
AGFG2 ArfGAP with FG repeats 2 7q22.1 Hiv-1 Xerophthalmia
AGGF1 angiogenic factor with G patch and FHA domains 1 5q13.3 Klippel-Trenaunay Syndrome,  Coats Disease Proteus Syndrome
AGK acylglycerol kinase 7q34 Cataract, Autosomal Recessive Congenital 5,  Cataract And Cardiomyopathy,  Cataract 38, Autosomal Recessive Cataract 4, Multiple Types Show all 4
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1p21.2 Glycogen Storage Disease Iiib,  Glycogen Storage Disease Iiia,  Finger Agnosia,  Glycogen Storage Disease Iii,  Glycogen Storage Disease Glycogen Storage Disease Type 0 Show all 6
AGMX2 agammaglobulinemia, X-linked 2 (with growth hormone deficiency) Xp22 Agammaglobulinemia X-Linked Type 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 9q34.3 Congenital Generalized Lipodystrophy Type 1,  Congenital Generalized Lipodystrophy,  Lipodystrophy,  Berardinelli-Seip Congenital Lipodystrophy,  Insulin Resistance,  Congenital Generalized Lipodystrophy Type 2 Mandibuloacral Dysplasia Show all 7
AGPAT9 1-acylglycerol-3-phosphate O-acyltransferase 9 4q21.23 Lung Cancer
AGPS alkylglycerone phosphate synthase 2q31.2 Rhizomelic Chondrodysplasia Punctata, Type 3,  Photoallergic Dermatitis,  Rhizomelic Chondrodysplasia Punctata,  Rhizomelic Chondrodysplasia Punctata Type 1,  Rhizomelic Chondrodysplasia Punctata Type 2 Chondrodysplasia Show all 6
AGR3 anterior gradient 3 7p21.1 Breast Cancer
AGRN agrin 1p36.33 Agrn-Related Congenital Myasthenic Syndrome,  Myasthenic Syndrome, Congenital, With Pre- And Postsynaptic Defects,  Myasthenia, Limb-Girdle, Familial,  Congenital Myasthenic Syndrome With Episodic Apnea,  Hereditary Cerebral Hemorrhage With Amyloidosis Cerebral Hemorrhage Show all 6
AGRP agouti related protein homolog (mouse) 16q22.1 Overnutrition,  Obesity, Late-Onset,  Leanness, Inherited,  Anorexia Nervosa,  Obesity,  Autism Spectrum Disorder,  Morbid Obesity,  Prader-Willi Syndrome Eating Disorder Show all 9
AGSPX Angio serpiginosum Xp11.3-q12 Angio Serpiginosum
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 1q42.2 Renal Tubular Dysgenesis,  Familial Hypertension,  Pre-Eclampsia,  Essential Hypertension,  Renal Tubular Dysgenesis, Agt-Related,  Posterior Urethral Valves,  Hypertension,  Renal Artery Disease,  Ischemic Optic Neuropathy,  Mitral Valve Disease,  Anterior Ischemic Optic Neuropathy,  Anuria,  Diastolic Heart Failure,  Malignant Hypertension,  Aortic Coarctation,  Sick Sinus Syndrome,  Gitelman Syndrome,  Sleep Apnea,  Fibromuscular Dysplasia,  Oligohydramnios,  Diabetic Retinopathy,  Myocardial Infarction,  Mitral Valve Prolapse Inflammatory Bowel Disease Show all 24
AGTR1 angiotensin II receptor, type 1 3q24 Cardiovascular Disease Risk Factor,  Renal Tubular Dysgenesis, Agtr1-Related,  Essential Hypertension,  Left Ventricular Outflow Tract Obstruction,  Nephrosclerosis,  Hypertensive Heart Disease,  Diastolic Heart Failure,  Mitral Valve Disease,  In Situ Carcinoma,  Mesangial Proliferative Glomerulonephritis,  Posterior Urethral Valves,  Mitral Valve Prolapse,  Renovascular Hypertension,  Ureteral Obstruction,  Hypertensive Encephalopathy,  Acute Mountain Sickness,  Ischemic Optic Neuropathy,  Renal Artery Disease,  Anterior Ischemic Optic Neuropathy,  Renal Tubular Dysgenesis,  Myocardial Stunning,  Anuria,  Malignant Hypertension,  Usual Interstitial Pneumonia,  Aortic Coarctation,  Familial Hyperaldosteronism,  Myocardial Infarction,  Oligohydramnios,  Fibromuscular Dysplasia,  Glomerulonephritis,  Proliferative Glomerulonephritis,  Hyperaldosteronism,  Type 2 Diabetes Mellitus,  Hypertension,  Portal Hypertension,  Insulin Resistance Hypercholesterolemia Show all 37
AGTR2 angiotensin II receptor, type 2 Xq23 Posterior Urethral Valves,  Hypertrophic Scars,  Multicystic Dysplastic Kidney,  Myocardial Stunning,  Hydronephrosis,  Vesicoureteral Reflux,  Renal Agenesis,  Mental Retardation, X-Linked 29 And Others Essential Hypertension Show all 9
AGXT alanine-glyoxylate aminotransferase 2q37.3 Primary Hyperoxaluria Type 1,  Primary Hyperoxaluria Autosomal Recessive Disease
AGXT2 alanine--glyoxylate aminotransferase 2 5p13.2 Primary Hyperoxaluria
AHCY adenosylhomocysteinase 20q11.22 Hypermethioninemia,  Purine Nucleoside Phosphorylase Deficiency,  Adenosine Deaminase Deficiency Hyperhomocysteinemia Show all 4
AHDC1 AT hook, DNA binding motif, containing 1 1p36.11 Xia-Gibbs Syndrome
AHI1 Abelson helper integration site 1 6q23.3 Joubert Syndrome With Ocular Anomalies,  Joubert Syndrome And Related Disorders,  Joubert Syndrome,  Ahi1-Related Joubert Syndrome,  Anterior Horn Cell Disease Joubert Syndrome 8 Show all 6
AHNAK2 AHNAK nucleoprotein 2 14q32.33 Skeletal Muscle Regeneration
AHR aryl hydrocarbon receptor 7p21.1 Hepatitis B,  Toxic Oil Syndrome,  Eosinophilic Fasciitis,  Choriocarcinoma,  Hydronephrosis,  Fasciitis,  Clear Cell Adenocarcinoma,  Hepatitis,  Breast Cancer Endometriosis Show all 10
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 14q24.3 Cannabis Abuse
AHSG alpha-2-HS-glycoprotein 3q27.3 Liver Cirrhosis,  Uremia,  Aortic Valve Stenosis,  Alcoholic Liver Cirrhosis,  Intrahepatic Cholestasis Of Pregnancy,  Insulin Resistance,  Morbid Obesity,  Type 2 Diabetes Mellitus Obesity Show all 9
AHSP alpha hemoglobin stabilizing protein 16p11.2 Obstructive Lung Disease,  Myocardial Stunning,  Angina Pectoris,  Beta Thalassemia,  Variant Creutzfeldt-Jakob Disease,  Cerebral Malaria,  Hyperglycemia,  Essential Hypertension,  Malaria,  Acute Myocardial Infarction,  Myocardial Infarction Creutzfeldt-Jakob Disease Show all 12
AIC Aicardi syndrome Xp22 Aicardi Syndrome
AICDA activation-induced cytidine deaminase 12p13.31 Splenic Marginal Zone Lymphoma,  Immunodeficiency With Hyper Igm Type 2,  Plasma Cell Neoplasm,  Burkitts Lymphoma,  X-Linked Hyper Igm Syndrome,  Hairy Cell Leukemia,  Chronic Lymphocytic Leukemia,  Nijmegen Breakage Syndrome Plasmacytoma Show all 9
AIF1 allograft inflammatory factor 1 6p21.33 Chronic Inflammatory Demyelinating Polyneuropathy,  Demyelinating Polyneuropathy,  Myocardial Infarction Susceptibility Traumatic Brain Injury Show all 4
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 Xq26.1 Combined Oxidative Phosphorylation Deficiency 6,  Charcot-Marie-Tooth Disease Type X,  Encephalomyopathy,  Mitochondrial Encephalomyopathy Rabies Show all 5
AIFM2 apoptosis-inducing factor, mitochondrion-associated, 2 10q22.1 Colon Cancer
AIG1 androgen-induced 1 6q24.2 Amebiasis
AIH3 amelogenesis imperfecta 3, hypomaturation or hypoplastic type Xq22-q28 Amelogenesis Imperfecta, Type Ie, X-Linked 2
AIM1 absent in melanoma 1 6q21 Oculocutaneous Albinism Type 4 Melanoma
AIM2 absent in melanoma 2 1q23.2 Melanoma Skin Conditions
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 4q24 Stromal Keratitis,  Leukodystrophy, Hypomyelinating 3,  Fibrosarcoma,  Prostate Adenocarcinoma,  Soft Tissue Sarcoma Keratitis Show all 6
AIP aryl hydrocarbon receptor interacting protein 11q13.2 Aip-Related Familial Isolated Pituitary Adenomas,  Hormone Producing Pituitary Cancer,  Familial Isolated Pituitary Adenoma,  Prolactinoma,  Acromegaly,  Pituitary Adenoma,  Acth-Secreting Pituitary Adenoma,  Growth Hormone Secreting Pituitary Adenoma,  Hepatitis B,  Somatostatin Analog,  Wermer Syndrome,  Carney Complex,  Acromegaly, Somatic,  Hepatitis,  Gigantism Pituitary Apoplexy Show all 16
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 17p13.2 Leber Congenital Amaurosis 4,  Aipl1-Related Leber Congenital Amaurosis,  Aipl1-Related Retinitis Pigmentosa,  Retinitis Pigmentosa,  Rpe65-Related Leber Congenital Amaurosis,  Keratoconus,  Leber Congenital Amaurosis,  Retinal Disease,  Retinitis Pigmentosa, Juvenile,  Cone-Rod Dystrophy 2 Leber Congenital Amaurosis 10 Show all 11
AIR Acute insulin response (2) 1p31 Acute Insulin Response Hyperglycemia
AIRE autoimmune regulator 21q22.3 Parathyroid Gland Disease,  Autoimmune Polyendocrine Syndrome,  Candidiasis,  Alopecia Areata,  Autoimmune Polyendocrine Syndrome Type 1,  Metaphyseal Dysplasia,  Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia,  Alopecia Universalis,  Progressive Muscular Atrophy,  Addisons Disease,  Marginal Zone B-Cell Lymphoma,  Thymoma,  Alopecia,  Demyelinating Polyneuropathy,  Chronic Inflammatory Demyelinating Polyneuropathy,  Hypersensitivity Reaction Type Ii Disease,  Vitiligo,  Autoimmune Retinopathy,  Omenn Syndrome,  Autoimmune Hepatitis,  Autoimmune Thyroiditis,  Panniculitis,  Paraneoplastic Syndromes,  Hypoparathyroidism Thyroiditis Show all 25
AIS1 autoimmune susceptibility 1 1p31 Autoimmune Disease 1
AIS2 autoimmune susceptibility 2 7q11.22 Autoimmune Disease 2 Scoliosis, Idiopathic 2
AIS3 autoimmune susceptibility 3 (vitiligo specific) 8 Autoimmune Disease 3 Vitiligo
AIS4 autoimmune disease, susceptibility to, 4 4q13-q21 Autoimmune Disease 4
AITD1 Autoimmune thyroid disease, susceptibility to, 1 6p11 Autoimmune Thyroid Disease 1
AITD2 Autoimmune thyroid disease, susceptibility to, 2 5q31-q33 Autoimmune Thyroid Disease 2
AITD4 Autoimmune thyroid disease, susceptibility to, 4 10q Autoimmune Thyroid Disease 4
AK1 adenylate kinase 1 9q34.11 Hemolytic Anemia Due To Adenylate Kinase Deficiency,  Hemolytic Anemia Nail-Patella Syndrome
AK2 adenylate kinase 2 1p35.1 Reticular Dysgenesis
AK5 adenylate kinase 5 1p31.1 Limbic Encephalitis
AK7 adenylate kinase 7 14q32.2 Reticular Dysgenesis
AKAP10 A kinase (PRKA) anchor protein 10 17p11.2 Cardiac Conduction Defect
AKAP12 A kinase (PRKA) anchor protein 12 6q25.1 Osteosarcoma
AKAP13 A kinase (PRKA) anchor protein 13 15q25.3 Breast Cancer Relapsing Fever
AKAP17A A kinase (PRKA) anchor protein 17A Xp22.33 Chronic Tic Disorder Tic Disorder
AKAP5 A kinase (PRKA) anchor protein 5 14q23.3 Ureterolithiasis Canavan Disease
AKAP9 A kinase (PRKA) anchor protein 9 7q21.2 Long Qt Syndrome 11 Long Qt Syndrome 1
AKIP1 A kinase (PRKA) interacting protein 1 11p15.4 Breast Cancer
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase) 1p34.1 Ethylene Glycol Poisoning,  Methanol Poisoning,  Alcohol-Related Birth Defect,  Fetal Alcohol Syndrome,  Hangover,  Alcohol Dependence Liver Cirrhosis Show all 7
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase) 7q33 Polyradiculopathy,  Diabetic Polyneuropathy,  Diabetic Neuropathy,  Diabetic Autonomic Neuropathy,  Diabetic Cataract,  Hyperglycemia,  Diabetic Nephropathy,  Diabetic Macular Edema,  Polyneuropathy,  Corneal Disease,  Diabetes Mellitus,  Autonomic Neuropathy Type 1 Diabetes Mellitus Show all 13
AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase) 7q33 Usual Interstitial Pneumonia
AKR1B1P2 aldo-keto reductase family 1, member B1 pseudogene 2 3p13 Pulmonary Function
AKR1C2 aldo-keto reductase family 1, member C2 10p15.1 46Xy Sex Reversal 8,  Obesity, Hyperphagia, And Developmental Delay,  46Xy Sex Reversal 8, Modifier Of Liver Cancer Show all 4
AKR1C3 aldo-keto reductase family 1, member C3 10p15.1 Asthma Prostate Cancer
AKR1C4 aldo-keto reductase family 1, member C4 10p15.1 46Xy Sex Reversal 8, Modifier Of 46Xy Sex Reversal 8
AKR1D1 aldo-keto reductase family 1, member D1 7q33 Bile Acid Synthesis Defect, Congenital, 2 Congenital Bile Acid Synthesis Defect
AKR7A2 aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) 1p36.13 Urinary Schistosomiasis,  Succinic Semialdehyde Dehydrogenase Deficiency,  Intermediate Charcot-Marie-Tooth Neuropathy,  Schistosomiasis Cystadenoma Show all 5
AKR7A3 aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 1p36.13 Adult Respiratory Distress Syndrome
AKT1 v-akt murine thymoma viral oncogene homolog 1 14q32.33 Cowden Syndrome 6,  Proteus Syndrome,  Breast Adenocarcinoma,  Ovarian Wilms Cancer,  Proteus Syndrome, Somatic,  Ovarian Cancer, Childhood,  Colon Cancer,  Ovarian Cancer,  Breast Cancer,  Ovarian Epithelial Cancer,  Serous Cystadenocarcinoma,  Ovarian Serous Cystadenocarcinoma,  Schizophrenia,  Anal Squamous Cell Carcinoma,  Thymoma,  Breast Cancer, Somatic,  Breast Cancer Susceptibility,  Cowden Syndrome 1,  Colorectal Cancer,  Overnutrition,  Colorectal Cancer, Somatic,  Male Breast Cancer,  Ovarian Cancer, Somatic,  Adenocarcinoma, Ovarian, Somatic,  Colonic Benign Neoplasm,  Mitral Valve Disease,  Leopard Syndrome,  Breast Cancer, Lobular,  Breast Cancer, Early-Onset,  Breast Cancer, Protection Against,  Breast Cancer, Invasive Ductal,  Cystadenocarcinoma Prostate Cancer Show all 33
AKT2 v-akt murine thymoma viral oncogene homolog 2 19q13.2 Hypoinsulinemic Hypoglycemia With Hemihypertrophy,  Thymoma,  Familial Partial Lipodystrophy Due To Akt2 Mutations,  Insulin Resistance,  Type 2 Diabetes Mellitus,  Diabetes Mellitus, Noninsulin-Dependent, 2,  Diabetes Mellitus, Noninsulin-Dependent, Late Onset,  Diabetes Mellitus, Type 2, Susceptiblity To,  Diabetes Mellitus, Noninsulin-Dependent, Association With,  Hypertension, Insulin Resistance-Related,  Ovarian Epithelial Cancer,  Hemihypertrophy Diabetes Mellitus, Noninsulin-Dependent Show all 13
AKT3 v-akt murine thymoma viral oncogene homolog 3 1q44 Hemimegalencephaly,  Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2,  Thymoma,  Megalencephaly,  Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 Agenesis Of The Corpus Callosum Show all 6
AKTIP AKT interacting protein 16q12.2 Balanitis Xerotica Obliterans,  Balanitis Thymic Hyperplasia
AL592528.1 uncharacterized LOC100129027 21q22.3 Smallpox
ALAD aminolevulinate dehydratase 9q32 Acute Hepatic Porphyria,  Lead Poisoning,  Hypochromic Anemia,  Fanconi Syndrome,  Cutaneous Porphyria,  Tyrosinemia,  Variegate Porphyria,  Porphyria,  Porphyria Cutanea Tarda,  Erythropoietic Protoporphyria,  Tyrosinemia Type I,  Acute Porphyria,  Uremia,  Acute Intermittent Porphyria,  Hereditary Coproporphyria Malaria Show all 16
ALAS1 aminolevulinate, delta-, synthase 1 3p21.2 X-Linked Sideroblastic Anemia,  Acute Porphyria Acute Hepatic Porphyria
ALAS2 aminolevulinate, delta-, synthase 2 Xp11.21 Sideroblastic Anemia Acquired,  Pyridoxine-Responsive Sideroblastic Anemia,  Sideroblastic Anemia,  X-Linked Sideroblastic Anemia,  Hypochromic Anemia,  Protoporphyria, Erythropoietic, X-Linked,  Erythropoietic Protoporphyria,  Pearson Syndrome,  Hemoglobinopathy,  X-Linked Protoporphyria,  Congenital Erythropoietic Porphyria,  Microcytic Anemia,  Erythropoietic Protoporphyria, Autosomal Recessive,  Sickle Cell Disease Refractory Anemia Show all 15
ALB albumin 4q13.3 Immunotactoid Glomerulopathy,  Systemic Capillary Leak Syndrome,  Analbuminemia,  Hypersensitivity Reaction Type Iii Disease,  Dysalbuminemic Hyperthyroxinemia,  Blastomycosis,  Hepatorenal Syndrome,  Hyperthyroxinemia,  Peritonitis,  Hepatopulmonary Syndrome,  Decubitus Ulcer,  Kernicterus,  Choanal Atresia,  Lymphatic System Disease,  Tricuspid Atresia,  Protein-Losing Enteropathy,  Familial Hypertension,  Eosinophilic Gastroenteritis,  Vascular Disease,  Cronkhite-Canada Syndrome,  Peptic Ulcer Perforation,  Chylous Ascites,  Cap Polyposis,  Pasteurellosis,  Acute Generalized Exanthematous Pustulosis,  Acrodermatitis,  Scurvy,  Hepatic Tuberculosis,  Capillary Leak Syndrome,  Pellagra,  Liver Cirrhosis,  Hypertensive Nephropathy,  Bronchiolitis Obliterans Organizing Pneumonia,  Marasmus,  Tuberculosis,  Yellow Nail Syndrome,  Esophageal Varix,  Anal Fistula,  Proteinuria,  Acrodermatitis Enteropathica,  Enteropathica,  Nephrotic Syndrome,  Gastroenteritis,  Miliary Tuberculosis,  Strongyloidiasis,  Choledocholithiasis,  Non-Immune Hydrops Fetalis,  Immune Hydrops Fetalis,  Hypoproteinemia, Hypercatabolic,  Constrictive Pericarditis,  Legionnaires Disease,  Glomerulosclerosis,  Glomerulonephritis,  Hypertensive Retinopathy,  Acute Kidney Failure,  Kwashiorkor,  Acute Diarrhea,  Phenytoin Toxicity,  Visceral Myopathy,  Noma,  Polyradiculoneuropathy,  Syndrome Of Inappropriate Antidiuretic Hormone,  Pulmonary Arteriovenous Malformation,  Berylliosis,  Compartment Syndrome,  Gallbladder Disease,  Anuria,  Acute Poststreptococcal Glomerulonephritis,  Lipoid Nephrosis,  Pure Red-Cell Aplasia,  Euthyroid Sick Syndrome,  Intussusception,  Chronic Inflammatory Demyelinating Polyradiculoneuropathy,  Abdominal Tuberculosis,  Fibrocalculous Pancreatic Diabetes,  Intestinal Obstruction,  Calciphylaxis,  Ovarian Hyperstimulation Syndrome,  Pyelonephritis,  Amitriptyline Toxicity,  Lipoprotein Glomerulopathy,  Common Cold,  Renovascular Hypertension,  Type 2 Diabetes Mellitus,  Arteriovenous Malformation,  Congenital Hepatic Fibrosis,  Warfarin Resistance,  Chronic Pyelonephritis,  Metabolic Syndrome X,  Extrinsic Allergic Alveolitis,  Hypersplenism,  Hydrops Fetalis,  Adrenocorticotropic Hormone Deficiency,  Surfactant Dysfunction,  Pericardial Effusion,  Bacteriuria,  Neonatal Stroke,  Viral Pneumonia,  Renal Hypertension,  Amyloidosis, Secondary,  Lead Poisoning,  Bronchiolitis,  Drug-Induced Hepatitis,  Liver Disease,  Dysphagia,  Essential Hypertension,  Dysfibrinogenemia,  Hypertension Hepatitis B Show all 109
ALDH16A1 aldehyde dehydrogenase 16 family, member A1 19q13.33 Mast Syndrome
ALDH18A1 aldehyde dehydrogenase 18 family, member A1 10q24.1 Aldh18A1-Related Cutis Laxa,  Cutis Laxa, Autosomal Recessive, Type Iiia,  Cutis Laxa, Autosomal Recessive, Type Iiib Pathological Gambling Show all 4
ALDH1A1 aldehyde dehydrogenase 1 family, member A1 9q21.13 Erythroplakia Gallbladder Adenocarcinoma
ALDH1A2 aldehyde dehydrogenase 1 family, member A2 15q21.3 Hangover Spina Bifida
ALDH1A3 aldehyde dehydrogenase 1 family, member A3 15q26.3 Microphthalmia, Isolated 8 Anophthalmia/microphthalmia
ALDH1B1 aldehyde dehydrogenase 1 family, member B1 9p13.2 Succinic Semialdehyde Dehydrogenase Deficiency
ALDH1L1 aldehyde dehydrogenase 1 family, member L1 3q21.3 Methanol Poisoning
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 12q24.12 Alcoholic Neuropathy,  Hangover,  Alcohol Sensitivity, Acute,  Sublingual Nitroglycerin Poor Response To,  Esophageal Cancer, Alcohol-Related,  Alcohol Dependence,  Fetal Alcohol Syndrome,  Esophageal Cancer,  Pancreatitis,  Liver Cirrhosis,  Antisocial Personality Disorder,  Alcoholic Liver Cirrhosis,  Alcohol Dependence, Protection Against,  Alcohol Abuse,  Gout Esophageal Squamous Cell Carcinoma Show all 16
ALDH3A1 aldehyde dehydrogenase 3 family, member A1 17p11.2 Sjogren-Larsson Syndrome,  Breast Adenocarcinoma Schizophrenia
ALDH3A2 aldehyde dehydrogenase 3 family, member A2 17p11.2 Sjogren-Larsson Syndrome,  Spastic Diplegia Quadriplegia
ALDH3B1 aldehyde dehydrogenase 3 family, member B1 11q13.2 Schizophrenia
ALDH4A1 aldehyde dehydrogenase 4 family, member A1 1p36.13 Hyperprolinemia Type 2,  Succinic Semialdehyde Dehydrogenase Deficiency Hyperprolinemia
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 6p22.3 Succinic Semialdehyde Dehydrogenase Deficiency,  Juvenile Absence Epilepsy,  Wagr Syndrome,  Paranoid Schizophrenia,  2-Hydroxyglutaric Aciduria,  Canavan Disease,  D-2-Hydroxyglutaric Aciduria Homocarnosinosis Show all 8
ALDH6A1 aldehyde dehydrogenase 6 family, member A1 14q24.3 Methylmalonate Semialdehyde Dehydrogenase Deficiency Succinic Semialdehyde Dehydrogenase Deficiency
ALDH7A1 aldehyde dehydrogenase 7 family, member A1 5q23.2 Folinic Acid-Responsive Seizures,  Pyridoxine-Dependent Epilepsy Cortical Blindness
ALDH9A1 aldehyde dehydrogenase 9 family, member A1 1q24.1 Fetal Alcohol Spectrum Disorder,  Alcohol Dependence Hangover
ALDOA aldolase A, fructose-bisphosphate 16p11.2 Glycogen Storage Disease Xii,  Mycetoma,  Lung Cancer,  Eumycotic Mycetoma,  Melanoma-Associated Retinopathy Glycogen Storage Disease Type 12 Show all 6
ALDOB aldolase B, fructose-bisphosphate 9q31.1 Eumycotic Mycetoma,  Mycetoma Hereditary Fructose Intolerance Syndrome
ALDOC aldolase C, fructose-bisphosphate 17q11.2 Eumycotic Mycetoma Mycetoma
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 16p13.3 Congenital Disorder Of Glycosylation, Type Ik,  Congenital Disorder Of Glycosylation Type 1K,  Congenital Disorder Of Glycosylation Walker-Warburg Syndrome Show all 4
ALG10 ALG10, alpha-1,2-glucosyltransferase 12p11.1 Long Qt Syndrome, Acquired, Reduced,  Long Qt Syndrome 2,  Long Qt Syndrome 2, Acquired Long Qt Syndrome 1 Show all 4
ALG10B ALG10B, alpha-1,2-glucosyltransferase 12q12 Drug-Induced Liver Injury Due To Flucloxacillin
ALG11 ALG11, alpha-1,2-mannosyltransferase 13q14.3 Congenital Disorder Of Glycosylation, Type Ip Congenital Disorder Of Glycosylation
ALG12 ALG12, alpha-1,6-mannosyltransferase 22q13.33 Congenital Disorder Of Glycosylation Type 1G
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit Xq23 Congenital Disorder Of Glycosylation Type I Mental Retardation, X-Linked 29 And Others
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit 1p21.3 Myasthenia, Congenital, With Tubular Aggregates 1
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase 9q22.33 Congenital Disorder Of Glycosylation Type Ii,  Congenital Disorder Of Glycosylation Type 1I Myasthenia, Congenital, With Tubular Aggregates 1
ALG3 ALG3, alpha-1,3- mannosyltransferase 3q27.1 Congenital Disorder Of Glycosylation Type 1D
ALG6 ALG6, alpha-1,3-glucosyltransferase 1p31.3 Congenital Disorder Of Glycosylation Type 1C Protein-Losing Enteropathy
ALG8 ALG8, alpha-1,3-glucosyltransferase 11q14.1 Congenital Disorder Of Glycosylation Type 1H
ALG9 ALG9, alpha-1,2-mannosyltransferase 11q23.1 Congenital Disorder Of Glycosylation, Type Il,  Bipolar Disorder,  Congenital Disorder Of Glycosylation Type 1L Congenital Disorder Of Glycosylation Show all 4
ALK anaplastic lymphoma receptor tyrosine kinase 2p23.1 Tracheal Lymphoma,  Neuroblastoma 3,  Alk-Related Neuroblastoma Susceptibility,  Alk-Positive Anaplastic Large Cell Lymphoma,  Inflammatory Myofibroblastic Tumor,  Alk-Positive Large B-Cell Lymphoma,  Neuroblastoma,  Anaplastic Large Cell Lymphoma,  Neuroblastoma, Susceptibility,  Primary Cutaneous Anaplastic Large Cell Lymphoma,  Alk-Negative Anaplastic Large Cell Lymphoma,  Alk+ Histiocytosis,  Lung Cancer,  Reticulosarcoma,  Dendritic Cell Tumor Selection Of Therapeutic Option In Non-Small Cell Lung Carcinoma Show all 16
ALKBH3 alkB, alkylation repair homolog 3 (E. coli) 11p11.2 Prostate Cancer
ALL1 Leukemia, acute lymphocytic, susceptibility to, 1 10q21 Leukemia, Acute Lymphocytic 1
ALL2 Leukemia, acute lymphoblastic, susceptibility to, 2 7p12.2 Leukemia, Acute Lymphoblastic 2
ALLC allantoicase 2p25.3 Denture Stomatitis Lymphogranuloma Venereum
ALMS1 Alstrom syndrome 1 2p13.1 Alstrom Syndrome
ALMS1P Alstrom syndrome 1 pseudogene 2p13.1 Alstrom Syndrome
ALOX12 arachidonate 12-lipoxygenase 17p13.1 Atherosclerosis,  Osteoporosis,  Asthma,  Pancreatic Cancer,  Prostate Cancer,  Essential Thrombocythemia Essential Hypertension Show all 7
ALOX12B arachidonate 12-lipoxygenase, 12R type 17p13.1 Ichthyosis, Congenital, Autosomal Recessive 2,  Alox12B-Related Autosomal Recessive Congenital Ichthyosis,  Congenital Ichthyosiform Erythroderma,  Autosomal Recessive Congenital Ichthyosis,  Ichthyosis, Congenital, Autosomal Recessive 4A Meningioma Show all 6
ALOX15 arachidonate 15-lipoxygenase 17p13.2 Atherosclerosis,  Osteoporosis,  Asthma Prostate Adenocarcinoma Show all 4
ALOX15B arachidonate 15-lipoxygenase, type B 17p13.1 Autosomal Recessive Congenital Ichthyosis Prostate Adenocarcinoma
ALOX5 arachidonate 5-lipoxygenase 10q11.21 Atherosclerosis,  Asthma, Diminished Response To Antileukotriene Treatment In,  Paranasal Sinus Disease,  Asthma,  Tuberculous Meningitis,  Osteoporosis,  Urticaria,  Arthus Reaction,  Glutathione Synthetase Deficiency,  Meningioma Primary Pulmonary Hypertension Show all 11
ALOX5AP arachidonate 5-lipoxygenase-activating protein 13q12.3 Cerebrovascular Disease,  Asthma,  Osteoporosis,  Psoriasis,  Atherosclerosis Familial Hypercholesterolemia Show all 6
ALOXE3 arachidonate lipoxygenase 3 17p13.1 Ichthyosis, Congenital, Autosomal Recessive 3,  Aloxe3-Related Autosomal Recessive Congenital Ichthyosis,  Autosomal Recessive Congenital Ichthyosis,  Ichthyosis, Congenital, Autosomal Recessive 2,  Anhidrosis Congenital Ichthyosiform Erythroderma Show all 6
ALPI alkaline phosphatase, intestinal 2q37.1 Soft Palate Cancer,  Hypophosphatasia,  Gastrointestinal System Disease Seminoma Show all 4
ALPL alkaline phosphatase, liver/bone/kidney 1p36.12 Odontohypophosphatasia,  Hypophosphatasia, Infantile,  Hypophosphatasia,  Prenatal Benign Hypophosphatasia,  Hypophosphatasia, Adult,  Cleidocranial Dysplasia,  Chronic Recurrent Multifocal Osteomyelitis,  Choledocholithiasis,  Hypercalcemia,  Pfeiffer Syndrome,  Osteitis Fibrosa,  Meningioma,  Glycosylphosphatidylinositol Deficiency Osteomyelitis Show all 14
ALPP alkaline phosphatase, placental 2q37.1 Aagenaes Syndrome,  Waardenburg Syndrome Type I,  Hypophosphatasia, Infantile,  Clear Cell Adenoma,  Malignant Sertoli Cell Tumor,  Fascioliasis,  Hepatic Tuberculosis,  Hypophosphatasia,  Primary Biliary Cirrhosis,  Clear Cell Chondrosarcoma,  Epithelioid Trophoblastic Tumor,  Central Nervous System Germinoma,  Seminoma,  Testicular Sex Cord-Stromal Tumor,  Lymphocytic Hypophysitis,  Mature Teratoma,  Prostate Cancer,  Choledocholithiasis,  Periostitis,  Scrub Typhus,  Lymphoepithelioma-Like Carcinoma,  Osteosarcoma,  Endodermal Sinus Tumor,  Mixed Germ Cell Tumor,  Gestational Choriocarcinoma,  Choriocarcinoma,  Placental Site Trophoblastic Tumor,  Liver Disease,  Osteitis Fibrosa,  Rosai-Dorfman Disease,  Hyperparathyroidism Tuberculosis Show all 32
ALPPL2 alkaline phosphatase, placental-like 2 2q37.1 Germ Cell Tumors,  Seminoma,  Osteitis Fibrosa,  Lipoid Adrenal Hyperplasia,  Choledocholithiasis,  Complete Androgen Insensitivity Syndrome,  Pleomorphic Rhabdomyosarcoma Hypophosphatasia Show all 8
ALPQTL2 Alkaline phosphatase, plasma level of, QTL 2 1p36 Alkaline Phosphatase, Plasma Level Of, Qtl 2
ALRH Allergic rhinitis Allergic Rhinitis,  Asthma Rhinitis
ALS2 amyotrophic lateral sclerosis 2 (juvenile) 2q33.1 Infantile-Onset Ascending Hereditary Spastic Paralysis,  Als2-Related Disorders,  Juvenile Primary Lateral Sclerosis,  Amyotrophic Lateral Sclerosis Type 2,  Amyotrophic Lateral Sclerosis Lateral Sclerosis Show all 6
ALS2CL ALS2 C-terminal like 3p21.31 Blepharitis
ALS3 amyotrophic lateral sclerosis 3 (autosomal dominant) 18q21 Amyotrophic Lateral Sclerosis Type 3
ALS5 amyotrophic lateral sclerosis 5 15q15.1-q21.1 Amyotrophic Lateral Sclerosis 5, Juvenile Recessive
ALS7 amyotrophic lateral sclerosis 7 20p13 Amyotrophic Lateral Sclerosis Type 7
ALX1 ALX homeobox 1 12q21.31 Frontonasal Dysplasia 3,  Neural Tube Defects Frontonasal Dysplasia
ALX3 ALX homeobox 3 1p13.3 Frontonasal Dysplasia 1,  Basal Encephalocele,  Encephalocele,  Frontonasal Dysplasia Neuroblastoma Show all 5
ALX4 ALX homeobox 4 11p11.2 Parietal Foramina 2,  Frontonasal Dysplasia 2,  Frontonasal Dysplasia,  Craniosynostosis 5,  Autosomal Dominant Disease,  Potocki-Shaffer Syndrome,  Encephalocele,  Basal Encephalocele,  Enlarged Parietal Foramina,  Alopecia,  Wagr Syndrome,  Parietal Foramina 1,  Craniosynostosis,  Craniosynostosis, Type 1 Hypogonadism Show all 15
AMACR alpha-methylacyl-CoA racemase 5p13.2 Alpha-Methylacyl-Coa Racemase Deficiency,  Tubulocystic Carcinoma,  Adrenomyeloneuropathy,  Pigmentary Retinopathy,  Papillary Adenoma,  Mucinous Adenocarcinoma,  Mucinous Tubular And Spindle Cell Carcinoma,  Spindle Cell Carcinoma,  Ovarian Mucinous Adenocarcinoma,  Metanephric Adenoma,  Bile Duct Adenoma,  Bile Acid Synthesis Defect, Congenital, 4,  Clear Cell Papillary Renal Cell Carcinoma,  Papillary Renal Cell Carcinoma,  Nephrogenic Adenoma,  Congenital Bile Acid Synthesis Defect,  Collecting Duct Carcinoma,  Renal Clear Cell Carcinoma,  Thiolase Deficiency,  Prostate Cancer,  Lung Cancer Refsum Disease Show all 22
AMBN ameloblastin (enamel matrix protein) 4q13.3 Calcifying Epithelial Odontogenic Tumor Dentin Dysplasia
AMBP alpha-1-microglobulin/bikunin precursor 9q32 Ovarian Cancer,  Acute Kidney Failure,  Malaria,  Hepatitis E,  Hypertensive Nephropathy Type 1 Diabetes Mellitus Show all 6
AMCN arthrogryposis multiplex congenita, neurogenic 5q35 Arthrogryposis Multiplex Congenita Neurogenic Type
AMD1 adenosylmethionine decarboxylase 1 6q21 Sleeping Sickness,  Chagas Disease Malaria
AMELX amelogenin, X-linked Xp22.2 Amelogenesis Imperfecta,  Root Resorption,  Amelogenesis Imperfecta, Type 1E,  Dental Fluorosis,  Nance-Horan Syndrome,  Dental Pulp Necrosis,  Dental Caries,  Amelogenesis Imperfecta, Type Ib Amelogenesis Imperfecta, Type Iia1 Show all 9
AMELY amelogenin, Y-linked Yp11.2 Dental Pulp Necrosis,  Dental Fluorosis Turner Syndrome
AMER1 APC membrane recruitment protein 1 Xq11.2 Osteopathia Striata Cranial Sclerosis Wilms Tumor
AMER2 APC membrane recruitment protein 2 13q12.13 Breast And Colorectal Cancer
AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase 16q12.2 Colorectal Cancer
AMH anti-Mullerian hormone 19p13.3 Persistent Mullerian Duct Syndrome,  Intermediate Coronary Syndrome,  Polycystic Ovary Syndrome,  Hermaphroditism,  Persistent Mullerian Duct Syndrome, Type I,  Mixed Gonadal Dysgenesis,  Cryptorchidism,  Persistent Mullerian Duct Syndrome, Type Ii Varicocele Show all 9
AMHR2 anti-Mullerian hormone receptor, type II 12q13.13 Persistent Mullerian Duct Syndrome, Type Ii,  Persistent Mullerian Duct Syndrome,  Mixed Gonadal Dysgenesis,  Persistent Mullerian Duct Syndrome, Type I,  Cervical Cancer Ovarian Cancer Show all 6
AMIGO2 adhesion molecule with Ig-like domain 2 12q13.11 Gastric Adenocarcinoma,  Adenocarcinoma,  Spondylolisthesis Legg-Calve-Perthes Disease Show all 4
AMIGO3 adhesion molecule with Ig-like domain 3 3p21.31 Ulcerative Colitis
AMLCR2 acute myeloid leukemia chromosome region 2 16q22 Acute Myeloid Leukemia
AMMEC Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Xq22.3 Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 Xq23 Alport Syndrome - Intellectual Disability - Midface Hypoplasia - Elliptocytosis,  Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis Mental Retardation
AMN amnion associated transmembrane protein 14q32.32 Methylmalonic Aciduria And Homocystinuria Type Cble,  Methylmalonic Aciduria And Homocystinuria Type Cblg,  Megaloblastic Anemia-1, Norwegian Type,  Adrenomyeloneuropathy, Adult,  Adrenoleukodystrophy,  Methylmalonic Aciduria And Homocystinuria Type Cblc,  Methylmalonic Aciduria And Homocystinuria Type Cbld,  Intrinsic Factor Deficiency,  Methylmalonic Aciduria And Homocystinuria Type Cblf,  Cbld,  Cblg,  Cble,  Megaloblastic Anemia,  Cblf,  3 Methylglutaconic Aciduria Type I,  Megaloblastic Anemia-1, Finnish Type Multiple Carboxylase Deficiency Show all 17
AMPD1 adenosine monophosphate deaminase 1 1p13.2 Myopathy Due To Myoadenylate Deaminase Deficiency,  Adenosine Monophosphate Deaminase 1 Deficiency,  Barth Syndrome,  Congestive Heart Failure Myopathy Show all 5
AMPD2 adenosine monophosphate deaminase 2 1p13.3 Pontocerebellar Hypoplasia, Type 9 Spastic Paraplegia 63
AMPD3 adenosine monophosphate deaminase 3 11p15.4 Erythrocyte Amp Deaminase Deficiency,  Adenosine Monophosphate Deaminase Deficiency Myopathy Due To Myoadenylate Deaminase Deficiency
AMPH amphiphysin 7p14.1 Breast Cancer,  Cystoid Macular Dystrophy,  Retinitis Pigmentosa 9,  Transverse Myelitis,  Limbic Encephalitis,  Stiff-Person Syndrome Myelitis Show all 7
AMT aminomethyltransferase 3p21.31 Glycine Encephalopathy,  Amt-Related Glycine Encephalopathy,  D-Glycericacidemia,  Neonatal Glycine Encephalopathy,  Infantile Glycine Encephalopathy Atypical Glycine Encephalopathy Show all 6
AMTN amelotin 4q13.3 Exotropia Dental Fluorosis
AMY2A amylase, alpha 2A (pancreatic) 1p21.1 Exstrophy Of The Bladder
AN blood group Ahonen Aniridia
ANAPC11 anaphase promoting complex subunit 11 17q25.3 Hepatocellular Carcinoma
ANBC Aneurysmal bone cysts 16q22 Aneurysmal Bone Cysts
ANC Anal canal carcinoma 11q22-qter Anal Canal Carcinoma
ANCR Angelman syndrome chromosome region 15q11-q12 Angelman Syndrome Prader-Willi Syndrome
ANG angiogenin, ribonuclease, RNase A family, 5 14q11.2 Lipodermatosclerosis,  Ang-Related Amyotrophic Lateral Sclerosis,  Amyotrophic Lateral Sclerosis Type 9,  Gestational Trophoblastic Tumor,  Endometrial Carcinoma,  Myelodysplastic Syndromes,  Bladder Carcinoma,  Uterine Carcinosarcoma,  Amyotrophic Lateral Sclerosis Type 18,  Cutaneous T Cell Lymphoma Pancreatic Cancer Show all 11
ANGPT1 angiopoietin 1 8q23.1 Chorioangioma,  Funisitis,  Lipodermatosclerosis,  Twin-To-Twin Transfusion Syndrome,  Malignant Peritoneal Mesothelioma,  Polycystic Liver Disease,  Chronic Myocardial Ischemia Malaria Show all 8
ANGPT2 angiopoietin 2 8p23.1 Pyogenic Granuloma,  Chorioangioma,  Twin-To-Twin Transfusion Syndrome,  Placenta Accreta,  Macular Holes,  Placental Insufficiency,  Diabetic Retinopathy,  Lipodermatosclerosis,  Glioblastoma Multiforme,  Proliferative Diabetic Retinopathy,  Mucoepidermoid Carcinoma,  Limb Ischemia,  Retinopathy Of Prematurity,  Critical Limb Ischemia,  Polycystic Liver Disease,  Angiosarcoma,  Adult Respiratory Distress Syndrome,  Cerebral Malaria,  Septic Shock,  Malaria,  Hereditary Hemorrhagic Telangiectasia,  Chronic Lymphocytic Leukemia,  Liver Cancer,  Uterine Carcinosarcoma,  Papillary Carcinoma,  Breast Disease Proteinuria Show all 27
ANGPTL2 angiopoietin-like 2 9q33.3 Abdominal Aortic Aneurysm
ANGPTL3 angiopoietin-like 3 1p31.3 Hypobetalipoproteinemia, Familial, 2 Hypobetalipoproteinemia
ANGPTL4 angiopoietin-like 4 19p13.2 Plasma Triglyceride Level Qtl, Low,  Tongue Squamous Cell Carcinoma Type 2 Diabetes Mellitus
ANGPTL6 angiopoietin-like 6 19p13.2 Enterobiasis Gnathomiasis
ANIB1 aneurysm, intracranial berry 1 7q11.2 Aneurysm, Intracranial Berry, 1 Aneurysm
ANIB10 Aneurysm, intracranial berry, 10 8q12.1 Aneurysm, Intracranial Berry, 10 Aneurysm
ANIB11 Aneurysm, intracranial berry, 11 8p22 Aneurysm, Intracranial Berry, 11 Aneurysm
ANIB2 aneurysm, intracranial berry 2 19q13 Aneurysm, Intracranial Berry, 2 Aneurysm
ANIB3 aneurysm, intracranial berry 3 1p36.13-p34.3 Aneurysm, Intracranial Berry, 3 Aneurysm
ANIB4 aneurysm, intracranial berry 4 5p15.2-p14.3 Aneurysm, Intracranial Berry, 4 Aneurysm
ANIB5 Aneurysm, intracranial berry, 5 2p15-q14 Aneurysm, Intracranial Berry, 5 Aneurysm
ANIB6 Aneurysm, intracranial berry, 6 9p21 Aneurysm, Intracranial Berry, 6 Aneurysm
ANIB7 Aneurysm, intracranial berry, 7 11q24-q25 Aneurysm, Intracranial Berry, 7 Aneurysm
ANIB8 Aneurysm, intracranial berry, 8 14q23 Aneurysm, Intracranial Berry, 8 Aneurysm
ANIB9 Aneurysm, intracranial berry, 9 2q33.1 Aneurysm, Intracranial Berry, 9 Aneurysm
ANIC Anosmia, isolated congenital 18p11.23-q12.2 Congenital Anosmia
ANK1 ankyrin 1, erythrocytic 8p11.21 Hereditary Spherocytosis,  8P11.2 Deletion Syndrome,  Ank1-Related Spherocytosis Hereditary Elliptocytosis Show all 4
ANK2 ankyrin 2, neuronal 4q25 Long Qt Syndrome 4,  Cardiac Arrhythmia, Ankyrin-B-Related,  Long Qt Syndrome 1,  Long Qt Syndrome Catecholaminergic Polymorphic Ventricular Tachycardia Show all 5
ANK3 ankyrin 3, node of Ranvier (ankyrin G) 10q21.2 Mental Retardation, Autosomal Recessive, 37 Plexiform Neurofibroma
ANKEF1 ankyrin repeat and EF-hand domain containing 1 20p12.2 Breast And Colorectal Cancer Colorectal Cancer
ANKFN1 ankyrin-repeat and fibronectin type III domain containing 1 17q22 Cannabis Dependence
ANKH ANKH inorganic pyrophosphate transport regulator 5p15.2 Craniometaphyseal Dysplasia, Autosomal Dominant,  Chondrocalcinosis 2,  Craniometaphyseal Dysplasia,  Pseudogout,  Ankylosis,  Fukuyama Type Muscular Dystrophy,  Congenital Muscular Dystrophy Salih Myopathy Show all 8
ANKHD1 ankyrin repeat and KH domain containing 1 5q31.3 Hiv-1
ANKK1 ankyrin repeat and kinase domain containing 1 11q23.2 Heroin Dependence,  Alexithymia,  Dopamine Receptor D2, Reduced Brain Density Of,  Alcohol Dependence,  Bipolar I Disorder,  Neuroleptic Malignant Syndrome,  Antisocial Personality Disorder,  Tardive Dyskinesia,  Traumatic Brain Injury Nicotine Dependence Show all 10
ANKLE2 ankyrin repeat and LEM domain containing 2 12q24.33 Scurvy,  Pigmented Villonodular Synovitis Villonodular Synovitis
ANKRD1 ankyrin repeat domain 1 (cardiac muscle) 10q23.31 Diastolic Heart Failure,  Congenital Total Pulmonary Venous Return Anomaly,  Ankrd1-Related Dilated Cardiomyopathy,  Scimitar Syndrome Dilated Cardiomyopathy Show all 5
ANKRD11 ankyrin repeat domain 11 16q24.3 Nasal Cavity Lymphoma,  Kbg Syndrome,  16Q24.3 Microdeletion Syndrome Short Stature Show all 4
ANKRD16 ankyrin repeat domain 16 10p15.1 Breast Cancer Susceptibility
ANKRD17 ankyrin repeat domain 17 4q13.3 Breast Cancer Hand, Foot And Mouth Disease
ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle) 10q24.2 Dubin-Johnson Syndrome
ANKRD26 ankyrin repeat domain 26 10p12.1 Thrombocytopenia 2,  Ankrd26-Related Thrombocytopenia 2 Thrombocytopenia
ANKRD30A ankyrin repeat domain 30A 10p11.21 Breast Cancer
ANKRD30B ankyrin repeat domain 30B 18p11.21 Breast Cancer
ANKRD36B ankyrin repeat domain 36B 2q11.2 Melanoma Acral Lentiginous Melanoma
ANKRD55 ankyrin repeat domain 55 5q11.2 Oligoarticular Juvenile Arthritis Polyarticular Onset Juvenile Idiopathic Arthritis
ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A 6p21.31 Adjustment Disorder
ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 12q23.1 Acute Lymphocytic Leukemia
ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B 16p12.2 Usher Syndrome Type I
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 9q22.33 Nephronophthisis 16,  Infantile Nephronophthisis,  Juvenile Nephronophthisis,  Nephronophthisis 1, Juvenile Cystic Kidney Show all 5
ANLN anillin, actin binding protein 7p14.2 Focal Segmental Glomerulosclerosis 8 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis
ANMA Anisomastia 16q13-q21 Anisomastia
ANO1 anoctamin 1, calcium activated chloride channel 11q13.3 Small Intestinal Sarcoma Oral Cancer
ANO10 anoctamin 10 3p21.33 Spinocerebellar Ataxia, Autosomal Recessive, 10
ANO3 anoctamin 3 11p14.2 Dystonia 24
ANO5 anoctamin 5 11p14.3 Miyoshi Muscular Dystrophy 3,  Ano5-Related Muscle Diseases,  Gnathodiaphyseal Dysplasia,  Limb-Girdle Muscular Dystrophy Type 2L,  Osteogenesis Imperfecta Levin Type,  Distal Muscular Dystrophy Muscular Dystrophy Show all 7
ANO6 anoctamin 6 12q12 Scott Syndrome
ANO7 anoctamin 7 2q37.3 Prostate Cancer
ANON1 Anorexia nervosa, susceptibility to, 1 1p Anorexia Nervosa 1 Anorexia Nervosa
ANOP1 anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) Xq27-q28 Microphthalmia Syndromic 4
ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 15q23 Spinocerebellar Degeneration
ANPEP alanyl (membrane) aminopeptidase 15q26.1 Gastroenteritis Familial Chronic Lymphocytic Leukemia
ANTXR1 anthrax toxin receptor 1 2p13.3 Gapo Syndrome,  Hemangioma, Capillary Infantile,  Colorectal Cancer,  Inhalation Anthrax Ataxia Telangiectasia Show all 5
ANTXR2 anthrax toxin receptor 2 4q21.21 Hyalinosis, Inherited Systemic,  Inhalation Anthrax,  Juvenile Hyaline Fibromatosis Fibromatosis Show all 4
ANXA2R annexin A2 receptor 5p12 Multiple Myeloma
ANXA4 annexin A4 2p13.3 Papillary Serous Adenocarcinoma,  Legionnaires Disease Gonorrhea
ANXA5 annexin A5 4q27 Pregnancy Loss, Recurrent 3,  Pregnancy Loss,  Barth Syndrome,  Amelanotic Melanoma,  Transposition Of The Great Arteries,  Multiple Endocrine Neoplasia Type 2A,  Pancreatic Cancer Antiphospholipid Syndrome Show all 8
ANXA6 annexin A6 5q33.1 Marasmus,  Kwashiorkor Neonatal Lupus Erythematosus
ANXA7 annexin A7 10q22.2 Hereditary Spherocytosis
ANXA8 annexin A8 10q11.22 Acute Promyelocytic Leukemia
ANXA8L2 annexin A8-like 2 10q11.22 Acute Promyelocytic Leukemia
AOC1 amine oxidase, copper containing 1 7q36.1 Diabetic Autonomic Neuropathy,  Cystic Fibrosis,  Intestinal Disease,  Radiation Proctitis Bladder Carcinoma Show all 5
AOC2 amine oxidase, copper containing 2 (retina-specific) 17q21.31 Dissecting Aortic Aneurysm
AOC3 amine oxidase, copper containing 3 17q21.31 Coronary Artery Vasospasm,  Diabetes Mellitus,  Morbid Obesity Obesity Show all 4
AOCH Acromegaloid features, overgrowth, cleft palate, and hernia Acromegaloid Features, Overgrowth, Cleft Palate And Hernia
AOMS1 Abdominal obesity-metabolic syndrome QTL1 3q27 Abdominal Obesity-Metabolic Syndrome 1 Obesity
AOMS2 abdominal obesity-metabolic syndrome QTL2 17p12 Metabolic Syndrome X Obesity
AOS Adams-Oliver syndrome Oliver Syndrome
AOX1 aldehyde oxidase 1 2q33.1 End Stage Renal Failure,  Xanthinuria Type 1,  Molybdenum Cofactor Deficiency,  Amyotrophic Lateral Sclerosis Lateral Sclerosis Show all 5
AP1B1 adaptor-related protein complex 1, beta 1 subunit 22q12.2 Meningioma
AP1G1 adaptor-related protein complex 1, gamma 1 subunit 16q22.2 Hypoactive Sexual Desire Disorder
AP1S1 adaptor-related protein complex 1, sigma 1 subunit 7q22.1 Mednik Syndrome Erythrokeratodermia Variabilis
AP1S2 adaptor-related protein complex 1, sigma 2 subunit Xp22.2 Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures,  Basal Ganglia Disease Mental Retardation, X-Linked
AP1S3 adaptor-related protein complex 1, sigma 3 subunit 2q36.1 Pustulosis Palmaris Et Plantaris,  Generalized Pustular Psoriasis,  Hiv-1 Acrodermatitis Continua Suppurativa Of Hallopeau Show all 4
AP2A2 adaptor-related protein complex 2, alpha 2 subunit 11p15.5 Wolff-Parkinson-White Syndrome
AP2S1 adaptor-related protein complex 2, sigma 1 subunit 19q13.32 Familial Hypocalciuric Hypercalcemia Type 3,  Familial Hypocalciuric Hypercalcemia,  Hypercalcemia Hypocalciuric Hypercalcemia, Type I Show all 4
AP3B1 adaptor-related protein complex 3, beta 1 subunit 5q14.1 Hermansky Pudlak Syndrome 2,  Hermansky-Pudlak Syndrome 1,  Platelet Storage Pool Deficiency Hermansky-Pudlak Syndrome Show all 4
AP3B2 adaptor-related protein complex 3, beta 2 subunit 15q25.2 Congenital Diaphragmatic Hernia
AP4B1 adaptor-related protein complex 4, beta 1 subunit 1p13.2 Hypertonia,  Spastic Paraplegia 47, Autosomal Recessive,  Cerebral Palsy,  Spastic Paraplegia 50, Autosomal Recessive Spasticity Show all 5
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit 15q21.2 Spastic Paraplegia 51,  Cerebral Palsy Spastic Paraplegia 50, Autosomal Recessive
AP4M1 adaptor-related protein complex 4, mu 1 subunit 7q22.1 Spastic Paraplegia 50, Autosomal Recessive,  Infantile Hypotonia,  Quadriplegia Hypotonia Show all 4
AP4S1 adaptor-related protein complex 4, sigma 1 subunit 14q12 Spastic Paraplegia 52, Autosomal Recessive,  Hypertonia,  Cerebral Palsy Spastic Paraplegia 50, Autosomal Recessive Show all 4
AP5M1 adaptor-related protein complex 5, mu 1 subunit 14q22.3 Hiv-1
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit 7p22.1 Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 48
APAF1 apoptotic peptidase activating factor 1 12q23.1 Male Germ Cell Tumor,  Nonseminomatous Germ Cell Tumor,  Talipes Equinovarus,  Dystrophinopathies Legionellosis Show all 5
APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 9q21.12 Neuronal Intranuclear Inclusion Disease
APBA3 amyloid beta (A4) precursor protein-binding, family A, member 3 19p13.3 Melanotic Neuroectodermal Tumor
APBB1 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 11p15.4 Alzheimers Disease
APBB2 amyloid beta (A4) precursor protein-binding, family B, member 2 4p13 Alzheimer Disease Type 2 Alzheimers Disease
APC adenomatous polyposis coli 5q22.2 Apc-Associated Polyposis Conditions,  Fourth Cranial Nerve Palsy,  Cranial Nerve Palsy,  Brain Tumor-Polyposis Syndrome 2,  Gardner Syndrome,  Desmoid Tumor,  Familial Adenomatous Polyposis,  Hepatoblastoma,  Hepatoblastoma, Somatic,  Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion,  Adenoma, Periampullary, Somatic,  Liver Cancer,  Medulloblastoma,  Intestinal Neoplasm,  Attenuated Familial Adenomatous Polyposis,  Fibrous Dysplasia,  Cerebellar Liponeurocytoma,  Colorectal Cancer,  Intussusception,  Turcot Syndrome,  Pseudomyxoma Peritonei,  Pancreatoblastoma,  Nonpapillary Renal Cell Carcinoma,  Acrodysostosis,  Brachydactyly Type E,  Juvenile Polyposis Syndrome,  Hyperplastic Polyposis Syndrome,  Gallbladder Cancer,  Mutyh-Associated Polyposis,  Barretts Esophagus,  Medulloblastoma, Desmoplastic,  Acinar Cell Carcinoma,  Hepatocellular Carcinoma, Childhood,  Colorectal Cancer, Somatic,  Hepatocellular Carcinoma, Somatic,  Albrights Hereditary Osteodystrophy,  Gastric Cancer, Somatic,  Lynch Syndrome,  Adenoma Colonic Benign Neoplasm Show all 40
APC2 adenomatosis polyposis coli 2 19p13.3 Familial Adenomatous Polyposis
APCDD1 adenomatosis polyposis coli down-regulated 1 18p11.22 Hypotrichosis 1,  Hypotrichosis Simplex,  Hypotrichosis,  Edwards Syndrome Hypotrichosis 11 Show all 5
APCS amyloid P component, serum 1q23.2 Amyloidosis, Secondary,  Candida Glabrata,  Burns Oral Candidiasis Show all 4
APEH acylaminoacyl-peptide hydrolase 3p21.31 Barbiturate Dependence,  High Pressure Neurological Syndrome,  Renal Cell Carcinoma Placenta Praevia Show all 4
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 14q11.2 Attenuated Familial Adenomatous Polyposis,  Cystic Fibrosis,  Breast Cancer,  Respiratory Failure Lung Cancer Show all 5
APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 Xp11.21 Mitochondrial Disorders
APITD1 apoptosis-inducing, TAF9-like domain 1 1p36.22 Neuroblastoma,  Gastric Antral Vascular Ectasia Fanconis Anemia
APLF aprataxin and PNKP like factor 2p13.3 Degenerative Disc Disease Junctional Epidermolysis Bullosa
APLN apelin Xq26.1 Type 2 Diabetes Mellitus,  Type 1 Diabetes Mellitus,  Obesity,  Morbid Obesity,  Insulin Resistance Syndrome Of Inappropriate Antidiuretic Hormone Show all 6
APLNR apelin receptor 11q12.1 Aortic Valve Stenosis Hiv-1
APLP1 amyloid beta (A4) precursor-like protein 1 19q13.12 Alzheimers Disease
APMR1 Alopecia-mental retardation syndrome 3q26.3-q27.3 Alopecia Mental Retardation Syndrome 1
APMR2 Alopecia with mental retardation syndrome 2 3q26.2-q26.31 Alopecia Mental Retardation Syndrome 2
APMR3 Alopecia-mental retardation syndrome 3 18q11.2-q12.2 Alopecia-Mental Retardation Syndrome 3
APOA1 apolipoprotein A-I 11q23.3 Apo A-I Deficiency,  Cerebral Atherosclerosis,  Hypoalphalipoproteinemia,  Amyloidosis, 3 Or More Types,  Corneal Clouding, Autosomal Recessive,  Familial Renal Amyloidosis Due To Apolipoprotein Ai Variant,  Apoa1-Related Familial Visceral Amyloidosis,  Apoa1-Associated Familial High Density Lipoprotein Deficiency,  Apoa-I And Apoc-Iii Deficiency, Combined,  Tangier Disease,  Avascular Necrosis Of The Femoral Head,  Multiple Myeloma,  Familial Hdl Deficiency,  Amyloidosis,  Hyperalphalipoproteinemia,  Trypanosomiasis,  Hyperlipoproteinemia Type Iii,  Gallbladder Disease,  Hepatic Lipase Deficiency,  Artery Disease,  Hypercholesterolemia,  Noma,  Ischemic Heart Disease,  Alagille Syndrome,  Eye Disease,  Fish-Eye Disease,  Reflex Sympathetic Dystrophy,  Familial Visceral Amyloidosis,  Amyloidosis, Renal,  Hypertriglyceridemia,  Norum Disease,  Familial Hyperlipidemia,  Familial Hypercholesterolemia,  Cerebrotendinous Xanthomatosis,  Familial Combined Hyperlipidemia,  Familial Hypertriglyceridemia,  Arteriosclerosis,  Myocardial Infarction,  Chylomicron Retention Disease,  Type 2 Diabetes Mellitus,  Peripheral Vascular Disease,  Atherosclerosis,  Insulin Resistance,  Amyloidosis, Secondary Hereditary Amyloidosis Show all 45
APOA2 apolipoprotein A-II 1q23.3 Apolipoprotein A-Ii Deficiency,  Familial Renal Amyloidosis Due To Apolipoprotein Aii Variant,  Familial Hyperlipidemia,  Familial Hypertriglyceridemia,  Hypercholesterolemia,  Peripheral Vascular Disease,  Hypoalphalipoproteinemia,  Norum Disease,  Carotid Artery Disease,  Hyperalphalipoproteinemia,  Fish-Eye Disease,  Tangier Disease,  Familial Hypercholesterolemia,  Hypercholesterolemia, Familial, Modifier Of,  Familial Combined Hyperlipidemia,  Eye Disease,  Vascular Disease,  Hereditary Amyloidosis,  Hypertriglyceridemia,  Artery Disease,  Insulin Resistance,  Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of,  Hyperthyroidism,  Amyloidosis,  Ldl Cholesterol Level Qtl2 Coronary Artery Disease In Familial Hypercholesterolemia, Protection Against Show all 26
APOA4 apolipoprotein A-IV 11q23.3 Demyelinating Polyneuropathy,  Chronic Inflammatory Demyelinating Polyneuropathy,  Familial Combined Hyperlipidemia,  Familial Hypercholesterolemia,  Ischemic Heart Disease,  Patent Ductus Arteriosus,  Proteinuria,  Hypercholesterolemia,  Venous Thromboembolism,  Obesity,  Type 2 Diabetes Mellitus Schizophrenia Show all 12
APOA5 apolipoprotein A-V 11q23.3 Hyperlipoproteinemia Type Iii,  Hypertriglyceridemia,  Hyperlipoproteinemia Type V,  Artery Disease Familial Hyperlipidemia Show all 5
APOB apolipoprotein B 2p24.1 Hypobetalipoproteinemia,  Defective Apolipoprotein B-100,  Apob-Related Familial Hypercholesterolemia, Autosomal Dominant,  Hypercholesterolemia, Due To Ligand-Defective Apo B,  Hypercholesterolemia,  Familial Hypercholesterolemia,  Chylomicron Retention Disease,  Lipid Metabolism Disorder,  Avascular Necrosis Of The Femoral Head,  Familial Combined Hyperlipidemia,  Ischemic Heart Disease,  Ldl Cholesterol Level Qtl2,  Coronary Artery Disease In Familial Hypercholesterolemia, Protection Against,  Gallbladder Disease,  Artery Disease,  Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of,  Hyperapobetalipoproteinemia,  Familial Hypertriglyceridemia,  Noma,  Familial Hyperlipidemia,  Lipoprotein Glomerulopathy,  Hyperlipoproteinemia Type 2,  Abetalipoproteinemia,  Exencephaly,  Hypertriglyceridemia,  Hypoalphalipoproteinemia,  Insulin Resistance,  Acanthocytosis,  Hyperlipoproteinemia Type Iii,  Hypercholesterolemia, Familial, Modifier Of,  Riboflavin Deficiency,  Obesity,  Type 2 Diabetes Mellitus,  Hyperalphalipoproteinemia,  Cerebrotendinous Xanthomatosis,  Hypobetalipoproteinemia, Familial, 2,  Atherosclerosis,  Myocardial Infarction,  Arteriosclerosis,  Myocardial Infarction Susceptibility Sitosterolemia Show all 41
APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 12p13.31 Neurofibromatosis
APOBEC3A apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A 22q13.1 Human T-Cell Leukemia Virus Type 1,  Hepatitis B Virus Infection,  Colorectal Adenocarcinoma Hiv-1 Show all 4
APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 22q13.1 Human T-Cell Leukemia Virus Type 1,  Hepatitis B Virus Infection Hiv-1
APOBEC3C apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C 22q13.1 Hiv-1
APOBEC3D apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 22q13.1 Hiv-1
APOBEC3F apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 22q13.1 Hiv-1
APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G 22q13.1 Human Immunodeficiency Virus Infectious Disease Hiv-1
APOBEC3H apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H 22q13.1 Hiv-1
APOC1 apolipoprotein C-I 19q13.32 Primary Progressive Aphasia,  Memory Impairment,  Stomach Cancer,  Aphasia,  Insulin Resistance Alzheimers Disease Show all 6
APOC1P1 apolipoprotein C-I pseudogene 1 19q13.32 Intrahepatic Cholangiocarcinoma
APOC2 apolipoprotein C-II 19q13.32 Apolipoprotein C-Ii Deficiency,  Hyperlipoproteinemia, Type Ib,  Pancreatitis,  Familial Hyperlipidemia,  Chronic Kidney Failure,  Hypertriglyceridemia,  Atherosclerosis,  Hyperlipoproteinemia Type V,  Steatorrhea Familial Combined Hyperlipidemia Show all 10
APOC3 apolipoprotein C-III 11q23.3 Hyperalphalipoproteinemia 2,  Hyperalphalipoproteinemia,  Carotid Intimal Medial Thickness,  Hypertriglyceridemia,  Familial Combined Hyperlipidemia,  Familial Hyperlipidemia,  Hypoalphalipoproteinemia,  Familial Hypertriglyceridemia,  Uremia,  Chronic Kidney Failure,  Type 2 Diabetes Mellitus,  Hypercholesterolemia,  Insulin Resistance,  Obesity Familial Hypercholesterolemia Show all 15
APOC4 apolipoprotein C-IV 19q13.32 Artery Disease Breast And Colorectal Cancer
APOD apolipoprotein D 3q29 Pilocytic Astrocytoma,  Male Breast Cancer,  Ganglioglioma,  Breast Cyst,  Picks Disease,  Gynecomastia,  Neurofibroma,  Astrocytoma Schizophrenia Show all 9
APOE apolipoprotein E 19q13.32 Moderate And Severe Traumatic Brain Injury,  Mesial Temporal Lobe Epilepsy With Hippocampal Sclerosis,  Lipoprotein Glomerulopathy,  Age Related Macular Degeneration,  Myocardial Infarction Susceptibility,  Hyperlipidemia Type 3,  Alzheimer Disease Risk Factor,  Sea-Blue Histiocyte Syndrome,  Alzheimers Disease,  Temporal Lobe Epilepsy,  Cerebral Amyloid Angiopathy,  Persistent Vegetative State,  Creutzfeldt-Jakob Disease,  Traumatic Brain Injury,  Brain Injury,  Hereditary Cerebral Amyloid Angiopathy,  Posterior Cortical Atrophy,  Vascular Dementia,  Wernicke-Korsakoff Syndrome,  Alzheimer Disease Type 2,  Hypercholesterolemia,  Schizophreniform Disorder,  Cerebrovascular Disease,  Inclusion Body Myositis,  Gallbladder Disease,  Myocardial Infarction,  Memory Impairment,  Primary Progressive Aphasia,  Hypertriglyceridemia,  Normal Pressure Hydrocephalus,  Finnish Type Amyloidosis,  Proximal Spinal Muscular Atrophy,  Hyperlipoproteinemia Type Iii,  Primary Angle-Closure Glaucoma,  Genetic Prion Diseases,  Genital Herpes,  Familial Hypercholesterolemia,  Kuru,  Cerebral Atherosclerosis,  Artery Disease,  Dementia,  Defective Apolipoprotein B-100,  Familial Creutzfeldt-Jakob Disease,  Smith-Lemli-Opitz Syndrome,  Recurrent Acute Pancreatitis,  Argyrophilic Grain Disease,  Diabetic Angiopathy,  Variant Creutzfeldt-Jakob Disease,  Exfoliation Syndrome,  Binswangers Disease,  Dense Deposit Disease,  Head Injury,  Hepatic Lipase Deficiency,  Atherosclerosis,  Parkinsons Disease,  Hyperlipoproteinemia Type V,  Hyperapobetalipoproteinemia,  Cervical Dystonia,  Cerebral Atrophy,  Familial Partial Lipodystrophy,  Familial Hypertriglyceridemia,  Herpes Simplex Encephalitis,  Aortic Disease,  Semantic Dementia Familial Hyperlipidemia Show all 65
APOF apolipoprotein F 12q13.3 Dacryoadenitis
APOH apolipoprotein H (beta-2-glycoprotein I) 17q24.2 Subacute Delirium,  Splenic Infarction,  Chronic Graft Versus Host Disease,  Actinomycosis,  Spinal Cord Infarction,  Middle Cerebral Artery Infarction,  Bone Marrow Necrosis,  Thromboangiitis Obliterans,  Connective Tissue Disease,  Thrombophlebitis,  Ischemic Optic Neuropathy,  Central Retinal Vein Occlusion,  Myelitis,  Antiphospholipid Syndrome,  Catastrophic Antiphospholipid Syndrome,  Retinal Vasculitis,  Antithrombin Iii Deficiency,  Sneddon Syndrome,  Arteriovenous Fistula,  Retinal Vein Occlusion,  Severe Pre-Eclampsia,  Chickenpox,  Transverse Myelitis,  Ischemic Colitis,  Degos Disease,  Retinal Vascular Occlusion,  Peripheral Vertigo,  Cardiogenic Shock,  Breast Reconstruction,  Anterior Ischemic Optic Neuropathy,  Amaurosis Fugax,  Transient Global Amnesia,  Heart Valve Disease,  Compartment Syndrome,  Relapsing Polychondritis,  Protein S Deficiency,  Lupus Nephritis,  Retinal Artery Occlusion,  Temporal Arteritis,  Papilledema,  Acute Myocarditis,  Polyarteritis Nodosa,  Factor Xii Deficiency,  Syphilis,  Alcoholic Cardiomyopathy,  Malignant Hypertension,  Pregnancy Loss,  Fibromuscular Dysplasia,  Vasculitis,  Thromboembolism,  Collagenous Colitis,  Osteonecrosis Of The Jaw,  Pre-Eclampsia,  Mononeuropathy,  Mixed Connective Tissue Disease,  Pediatric Systemic Lupus Erythematosus,  Nodular Regenerative Hyperplasia,  Discoid Lupus Erythematosus,  Carotid Artery Occlusion,  Systemic Scleroderma,  Venous Thrombosis,  Nephritis,  Eclampsia,  Cerebral Sinovenous Thrombosis,  Subacute Cutaneous Lupus Erythematosus,  Behcets Disease,  Osteonecrosis,  Systemic Lupus Erythematosus,  Purpura,  Endocarditis,  Patent Foramen Ovale,  Hellp Syndrome,  Cryoglobulinemia,  Venous Thromboembolism Cerebrovascular Disease Show all 75
APOL1 apolipoprotein L, 1 22q12.3 Phencyclidine Abuse,  Sleeping Sickness,  Trypanosomiasis,  Glomerulosclerosis, Focal Segmental, 4,  End-Stage Renal Disease, Nondiabetic, Susceptibility To,  Focal Segmental Glomerulosclerosis,  Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis,  Glomerulosclerosis,  Schizophrenia Nephrotic Syndrome Type 3 Show all 10
APOL2 apolipoprotein L, 2 22q12.3 Schizophrenia
APOL4 apolipoprotein L, 4 22q12.3 Schizophrenia
APOLD1 apolipoprotein L domain containing 1 12p13.1 Rectal Neoplasm,  Anus Disease,  Anus Cancer,  Rectal Prolapse,  Diverticulitis Intestinal Obstruction Show all 6
APOM apolipoprotein M 6p21.33 Limb Ischemia,  Critical Limb Ischemia Type 2 Diabetes Mellitus
APOPT1 apoptogenic 1, mitochondrial 14q32.33 Cytochrome-C Oxidase Deficiency Disease
APP amyloid beta (A4) precursor protein 21q21.3 Hereditary Cerebral Amyloid Angiopathy,  Central Nervous System Vasculitis,  Myositis,  Alzheimer Disease 1, Familial,  Alzheimer Disease Type 1,  Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants,  Cerebral Amyloid Angiopathy,  Alzheimers Disease,  Dementia,  Hereditary Diffuse Leukoencephalopathy With Spheroids,  Monosomy 21,  Inclusion Body Myositis,  Neuroaxonal Dystrophy,  Meningoencephalitis,  Hereditary Cerebral Hemorrhage With Amyloidosis,  Leukomalacia,  Alzheimer Disease-10,  Alzheimer Disease 9, Late Onset,  Alzheimer Disease Type 5,  Alzheimer Disease 6,  Alzheimer Disease 8,  Lewy Body Dementia,  Oculopharyngeal Muscular Dystrophy,  Cd40 Deficiency,  Cerebral Hypoxia,  Amyloidosis,  Shaken Baby Syndrome,  Cerebral Hemorrhage,  Synucleinopathy,  Peroxisomal Disease,  Brain Injury,  Normal Pressure Hydrocephalus,  Neuroaxonal Dystrophy, Infantile,  Alzheimer Disease, Pathogenesis, Association With,  Kuru,  Familial Idiopathic Basal Ganglia Calcification,  Binswangers Disease,  Alzheimer Disease Type 2,  Argyrophilic Grain Disease Primary Progressive Aphasia Show all 40
APPBP2 amyloid beta precursor protein (cytoplasmic tail) binding protein 2 17q23.2 Breast Cancer
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 3p14.3 Exophthalmos
APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 12q23.3 Phelan-Mcdermid Syndrome
APRT adenine phosphoribosyltransferase 16q24.3 Dihydroxyadeninuria,  Adenine Phosphoribosyltransferase Deficiency,  Lesch-Nyhan Syndrome,  Purine Nucleoside Phosphorylase Deficiency,  Ureterolithiasis,  Fibrosarcoma,  Gout Nephrolithiasis Show all 8
APTX aprataxin 9p21.1 Ataxia With Oculomotor Apraxia Type 1,  Apraxia,  Aptx-Related Coenzyme Q10 Deficiency,  Spinocerebellar Degeneration,  Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia,  Ataxia,  Doid:4019,  Generalized Dystonia Friedreich Ataxia Show all 9
AQP1 aquaporin 1 (Colton blood group) 7p14.3 Polyhydramnios,  Priapism,  Dysferlinopathy,  Oligohydramnios,  Motion Sickness,  Menieres Disease,  Salivary Gland Adenoid Cystic Carcinoma,  Hepatorenal Syndrome,  Dystrophinopathies,  Skeletal Muscle Regeneration Diabetes Insipidus Show all 11
AQP12B aquaporin 12B 2q37.3 Posterior Polar Cataract
AQP2 aquaporin 2 (collecting duct) 12q13.12 Congenital Hydronephrosis,  Hydronephrosis,  Nephrogenic Diabetes Insipidus, Autosomal,  Endolymphatic Hydrops,  Nephrogenic Diabetes Insipidus,  Ureteral Disease,  Menieres Disease,  Diabetes Insipidus,  Urinary Tract Obstruction,  Neurohypophyseal Diabetes Insipidus,  Hepatorenal Syndrome,  Inappropriate Adh Syndrome,  Renal Clear Cell Carcinoma,  Acute Pyelonephritis,  Metabolic Acidosis,  Diabetic Ketoacidosis Hypokalemia Show all 17
AQP3 aquaporin 3 (Gill blood group) 9p13.3 Urinary Tract Obstruction,  Ureteral Disease,  Collecting Duct Carcinoma,  Oligohydramnios,  Polyhydramnios,  Constipation Cystic Fibrosis Show all 7
AQP4 aquaporin 4 18q11.2 Acute Transverse Myelitis,  Idiopathic Acute Transverse Myelitis,  Neuromyelitis Optica Spectrum Disorder,  Internuclear Ophthalmoplegia,  Cerebral Artery Occlusion,  Transverse Myelitis,  Neuromyelitis Optica,  Brain Edema,  Optic Neuritis,  Myelitis,  Crest Syndrome,  Syringomyelia,  Dysferlinopathy,  Neonatal Stroke,  Sarcoglycanopathies,  Neuritis,  Dystrophinopathies,  Hepatic Encephalopathy,  Megalencephalic Leukoencephalopathy With Subcortical Cysts,  Menieres Disease,  Intracranial Hypertension,  Bacterial Meningitis,  Acute Disseminated Encephalomyelitis,  Acute Liver Failure,  Acoustic Neuroma,  Neuroma Relapsing-Remitting Multiple Sclerosis Show all 27
AQP5 aquaporin 5 12q13.12 Dry Eye Syndrome,  Wrinkles,  Diffuse Palmoplantar Keratoderma, Bothnian Type,  Menieres Disease,  Nonepidermolytic Palmoplantar Keratoderma,  Congenital Diaphragmatic Hernia,  Palmoplantar Keratoderma, Bothnia Type,  Idiopathic Pulmonary Fibrosis Pterygium Show all 9
AQP6 aquaporin 6, kidney specific 12q13.12 Menieres Disease
AQP7 aquaporin 7 9p13.3 Menieres Disease,  Endolymphatic Hydrops,  Morbid Obesity,  Constipation,  Obesity Insulin Resistance Show all 6
AQP8 aquaporin 8 16p12.1 Polyhydramnios Oligohydramnios
AQP9 aquaporin 9 15q21.3 Hydrarthrosis,  Morbid Obesity Polyhydramnios
AQPEP laeverin 5q23.1 Laryngitis
AR androgen receptor Xq12 Spermatogenesis Arrest,  Isolated Micropenis,  Gastric Neuroendocrine Neoplasm,  Partial Androgen Insensitivity Syndrome,  Kennedys Disease,  Androgen Insensitivity Syndrome,  Complete Androgen Insensitivity Syndrome,  Prostate Cancer,  X-Linked Spinal-Bulbar Muscle Atrophy,  Hypospadias 1, X-Linked,  Prostate Cancer 4,  Prostate Cancer, Hereditary, 5,  Prostate Cancer 3,  Prostate Cancer, Progression Of,  Muscular Atrophy,  Gender Identity Disorder,  Hypospadias,  Prostate Cancer, Somatic,  Androgenetic Alopecia,  Vaginitis,  Germ Cell Cancer,  Withdrawal Disorder,  Mammary Pagets Disease,  Oligospermia,  Breast Cancer,  Cryptorchidism,  Transsexualism,  Male Breast Cancer,  Hermaphroditism,  Adenosarcoma Hemangioma Show all 31
ARAF v-raf murine sarcoma 3611 viral oncogene homolog Xp11.23 Mycobacterium Marinum
ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 4p14 Loiasis Urinary Schistosomiasis
ARC activity-regulated cytoskeleton-associated protein 8q24.3 Myoclonus, Familial Cortical Idiopathic Generalized Epilepsy
ARCI7 Ichthyosis, congenital, autosomal recessive 7 12p11.2-q13.1 Ichthyosis, Congenital, Autosomal Recessive 7
ARCI9 Ichthyosis, congenital, autosomal recessive 9 Ichthyosis, Congenital, Autosomal Recessive 9
AREG amphiregulin 4q13.3 Prostate Cancer,  Pancreatic Cancer,  Ovarian Cystadenoma,  Anemia Of Prematurity,  Psoriasis,  Bladder Carcinoma Colon Adenocarcinoma Show all 7
AREGB amphiregulin B 4q13.3 Prostate Cancer Breast Adenocarcinoma
ARF1 ADP-ribosylation factor 1 1q42.13 Rheumatic Myocarditis Cholera
ARF1P1 ADP-ribosylation factor 1 pseudogene 1 7q21.3 Hiv-1
ARF3 ADP-ribosylation factor 3 12q13.12 Distal Hereditary Motor Neuropathy, Type Ii,  Cholera Platelet Storage Pool Deficiency
ARF4 ADP-ribosylation factor 4 3p14.3 Cholera
ARF5 ADP-ribosylation factor 5 7q32.1 Cholera
ARF6 ADP-ribosylation factor 6 14q21.3 Familial Infantile Myoclonic Epilepsy Cholera
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 20q13.13 Periventricular Heterotopia With Microcephaly,  Periventricular Heterotopia, Autosomal Recessive,  Periventricular Nodular Heterotopia Pseudobulbar Palsy Show all 4
ARFRP1 ADP-ribosylation factor related protein 1 20q13.33 Wiskott-Aldrich Syndrome
ARG1 arginase 1 6q23.2 Hyperargininemia,  Recessive Dystrophic Epidermolysis Bullosa,  Quadriplegia,  Spastic Quadriplegia,  Q Fever Autoimmune Hepatitis Show all 6
ARG2 arginase 2 14q24.1 Hyperargininemia
ARHGAP1 Rho GTPase activating protein 1 11p11.2 Liver Cancer Noma
ARHGAP17 Rho GTPase activating protein 17 16p12.1 Syringomyelia
ARHGAP23 Rho GTPase activating protein 23 17q12