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22060 entries on 221 pages. Showing entries 1 - 100.
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AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
A1BG alpha-1-B glycoprotein 19 q 1 3 2 N/A -
A1BG-AS1 A1BG antisense RNA 1 19 q13.4 1 0 0 N/A -
A1CF APOBEC1 complementation factor 10 q21.1 1 0 0 N/A -
A2LD1 AIG2-like domain 1 13 q32.3 1 1 1 N/A -
A2M alpha-2-macroglobulin 12 p13.31 1 0 0 N/A Alpha-2-macroglobulin deficiency
A2M-AS1 A2M antisense RNA 1 12 p13.31 1 0 0 N/A -
A2ML1 alpha-2-macroglobulin-like 1 12 p13 1 3 3 2014-06-22 -
A2MP1 alpha-2-macroglobulin pseudogene 1 12 p13.31 1 0 0 N/A -
A4GALT alpha 1,4-galactosyltransferase 22 q13.2 1 0 0 N/A p phenotype
A4GNT alpha-1,4-N-acetylglucosaminyltransferase 3 p14.3 1 0 0 N/A -
AAAS achalasia, adrenocortical insufficiency, alacrimia 12 q13 1 0 0 N/A ID, Achalasia-addisonianism-alacrimia syndrome
AACS acetoacetyl-CoA synthetase 12 q24.31 1 0 0 N/A -
AACSP1 acetoacetyl-CoA synthetase pseudogene 1 5 q35 1 0 0 N/A -
AADAC arylacetamide deacetylase 3 q25.1 1 0 0 N/A -
AADACL2 arylacetamide deacetylase-like 2 3 q25.1 1 0 0 N/A -
AADACL3 arylacetamide deacetylase-like 3 1 p36.21 1 0 0 N/A -
AADACL4 arylacetamide deacetylase-like 4 1 p36.21 1 0 0 N/A -
AADAT aminoadipate aminotransferase 4 q33 1 0 0 N/A -
AAED1 AhpC/TSA antioxidant enzyme domain containing 1 9 q22.32 1 0 0 N/A -
AAGAB alpha- and gamma-adaptin binding protein 15 q22.33-q23 1 0 0 N/A Keratosis palmoplantaris papulosa
AAK1 AP2 associated kinase 1 2 p13.3 1 1 1 N/A -
AAMDC adipogenesis associated, Mth938 domain containing 11 q14.1 1 0 0 N/A -
AAMP angio-associated, migratory cell protein 2 q 1 0 0 N/A -
AANAT aralkylamine N-acetyltransferase 17 q25 1 0 0 N/A Delayed sleep phase syndrome, susceptibility to
AARS alanyl-tRNA synthetase 16 q22 1 0 0 N/A Charcot-Marie-Tooth disease, type 2N
AARS2 alanyl-tRNA synthetase 2, mitochondrial 6 p21.1 1 0 0 N/A ID, Combined oxidative phosphorylation deficiency 8, leukoencephalopathy, progressive, with ovarian failure
AARSD1 alanyl-tRNA synthetase domain containing 1 17 q21.31 1 0 0 N/A -
AASDH aminoadipate-semialdehyde dehydrogenase 4 q12 1 0 0 N/A -
AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase 11 q22 1 0 0 N/A -
AASS aminoadipate-semialdehyde synthase 7 q31.3 1 0 0 N/A Hyperlysinemia, Saccharopinuria
AATF apoptosis antagonizing transcription factor 17 q12 1 0 0 N/A -
AATK apoptosis-associated tyrosine kinase 17 q25.3 1 0 0 N/A -
AATK-AS1 AATK antisense RNA 1 17 q25.3 1 0 0 N/A -
ABAT 4-aminobutyrate aminotransferase 16 p13.2 1 0 0 N/A Gamma-aminobutyric acid transaminase deficiency
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 9 q31 1 33 2 2013-08-20 FH, HDLD-2, TGD
ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 17 q24 1 0 0 N/A -
ABCA11P ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene 4 p16.3 1 0 0 N/A -
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 2 q34 1 78 57 2014-08-22 ARCI-4A, ARCI-4B
ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 7 p12.3 1 0 0 2014-07-25 -
ABCA17P ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene 16 p13.3 1 0 0 N/A -
ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2 9 q34 1 0 0 N/A -
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 16 p13.3 1 0 0 N/A Surfactant metabolism dysfunction, pulmonary, 3
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1 p22 1 11 11 2014-06-22 dystrophy, cone rod, type 3 (CORD-3), macular degeneration, age-related (ARMD), macular degeneration, age-related, type 2 (ARMD-2), retinitis pigmentosa, type 19 (RP-19), Stargardt disease, tyep 1 (STGD-1)
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5 17 q24.3 1 0 0 N/A -
ABCA6 ATP-binding cassette, sub-family A (ABC1), member 6 17 q21 1 0 0 N/A -
ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 19 p13.3 1 0 0 N/A -
ABCA8 ATP-binding cassette, sub-family A (ABC1), member 8 17 q24 1 0 0 N/A -
ABCA9 ATP-binding cassette, sub-family A (ABC1), member 9 17 q24 1 0 0 N/A -
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 7 q21.12 1 7 6 N/A Colchicine resistance, Inflammatory bowel disease 13
ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 1 q32 1 0 0 N/A -
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 2 q24 1 0 0 N/A Benign recurrent intrahepatic cholestasis 2, Progressive familial intrahepatic cholestasis 2
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 7 q21 1 0 0 N/A Cholecystitis, Cholestasis, intrahepatic, of pregnancy 3, Progressive familial intrahepatic cholestasis 3
ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 7 p14 1 0 0 2014-07-25 -
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 2 q36 1 0 0 N/A Dyschromatosis universalis hereditaria 3, Langereis blood group, Microphthalmia, isolated, with coloboma 7
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 X q13.3 1 7 4 N/A Anemia sideroblastic and spinocerebellar ataxia
ABCB8 ATP-binding cassette, sub-family B (MDR/TAP), member 8 7 q36.1 1 0 0 N/A -
ABCB9 ATP-binding cassette, sub-family B (MDR/TAP), member 9 12 q24 1 0 0 N/A -
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 16 p13.1 1 0 0 N/A -
ABCC10 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 6 p12.3 1 0 0 N/A -
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 16 q12 1 0 0 N/A Apocrine gland secretion, variation in
ABCC12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 16 q12.1 1 0 0 N/A -
ABCC13 ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene 21 q11.2 1 0 0 N/A -
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 10 q24 1 0 0 N/A Dubin-Johnson syndrome
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 17 q21 1 0 0 N/A -
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 13 q31 1 1 1 N/A -
ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 3 q27 1 0 0 N/A -
ABCC5-AS1 ABCC5 antisense RNA 1 3 q27.1 1 0 0 N/A -
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 16 p13.11 1 2 2 N/A Generalized arterial calcification of infancy 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste
ABCC6P1 ATP-binding cassette, sub-family C, member 6 pseudogene 1 16 p12.3 1 0 0 N/A -
ABCC6P2 ATP-binding cassette, sub-family C, member 6 pseudogene 2 16 p13.11 1 0 0 N/A -
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 11 p15.1 1 1 1 2014-11-08 Leucine-induced hypoglycemia, Persistent hyperinsulinemic hypoglycemia of infancy, Transient neonatal diabetes mellitus 2
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 12 p12.1 1 1 1 2014-03-14 CANTU, Atrial fibrillation, familial, 12, Dilated cardiomyopathy 1O
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 X q28 1 29 21 N/A ID, Adrenoleukodystrophy
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2 12 q12 1 0 0 N/A -
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3 1 p21.3 1 0 0 N/A -
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 14 q24 1 0 0 N/A ID, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
ABCE1 ATP-binding cassette, sub-family E (OABP), member 1 4 q31 1 0 0 N/A -
ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 6 p21.33 1 0 0 N/A -
ABCF2 ATP-binding cassette, sub-family F (GCN20), member 2 7 q36.1 1 0 0 N/A -
ABCF3 ATP-binding cassette, sub-family F (GCN20), member 3 3 q27.1 1 0 0 N/A -
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 21 q22.3 1 0 0 N/A -
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 4 q22.1 1 0 0 N/A Blood group, junior system, Uric acid concentration, serum, quantitative trait locus 1
ABCG4 ATP-binding cassette, sub-family G (WHITE), member 4 11 q23 1 0 0 N/A -
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 2 p21 1 0 0 N/A Sitosterolemia
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 2 p21 1 0 0 N/A Gallbladder disease 4, Sitosterolemia
ABHD1 abhydrolase domain containing 1 2 p23.3 1 0 0 N/A -
ABHD10 abhydrolase domain containing 10 3 q13.2 1 0 0 N/A -
ABHD11 abhydrolase domain containing 11 7 q11.23 1 0 0 N/A -
ABHD11-AS1 ABHD11 antisense RNA 1 (tail to tail) 7 q11.23 1 0 0 N/A -
ABHD12 abhydrolase domain containing 12 20 p11.21 1 2 2 2013-12-24 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC)
ABHD12B abhydrolase domain containing 12B 14 q21.3 1 0 0 N/A -
ABHD13 abhydrolase domain containing 13 13 q33.2 1 0 0 N/A -
ABHD14A abhydrolase domain containing 14A 3 p21.1 1 0 0 N/A -
ABHD14A-ACY1 ABHD14A-ACY1 readthrough (non-protein coding) 3 p21.2 1 0 0 N/A -
ABHD14B abhydrolase domain containing 14B 3 p21.2 1 0 0 N/A -
ABHD15 abhydrolase domain containing 15 17 q11.2 1 0 0 N/A -
ABHD16A abhydrolase domain containing 16A 6 p21.3 1 0 0 N/A -
ABHD16B abhydrolase domain containing 16B 20 q13.33 1 0 0 N/A -
ABHD2 abhydrolase domain containing 2 15 q26.1 1 0 0 N/A -
ABHD3 abhydrolase domain containing 3 18 q11.1 1 0 0 N/A -
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