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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C3277849 | 17,20-Lyase Deficiency, Isolated | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C3278153 | GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C3278404 | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C3278404 | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C3278404 | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C3279392 | PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C3279564 | Osteogenesis Imperfecta, Type VI | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C3279775 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3279841 | Pyruvate Dehydrogenase E1-Beta Deficiency | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | GPC3 | 2719 | glypican 3 | P51654 |
| C3279992 | PARAGANGLIOMAS 5 | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C3280127 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C3280216 | HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 | UMOD | 7369 | uromodulin | P07911 |
| C3280314 | Combined Malonic and Methylmalonic Aciduria | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C3280371 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C3280428 | Alpha-Methylacyl-CoA Racemase Deficiency | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C3280428 | Alpha-Methylacyl-CoA Racemase Deficiency | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C3280795 | HYPOPLASTIC LEFT HEART SYNDROME 2 | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C3280795 | HYPOPLASTIC LEFT HEART SYNDROME 2 | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C3280914 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C3281084 | Congenital disorder of glycosylation type 1r | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
