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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 |
|---|---|---|---|---|---|
| C1140680 | Malignant neoplasm of ovary | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C1140680 | Malignant neoplasm of ovary | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C1140680 | Malignant neoplasm of ovary | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C1140680 | Malignant neoplasm of ovary | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C1140680 | Malignant neoplasm of ovary | CNTN2 | 6900 | contactin 2 | Q02246 |
| C1140680 | Malignant neoplasm of ovary | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C1140680 | Malignant neoplasm of ovary | TKT | 7086 | transketolase | P29401 |
| C1140680 | Malignant neoplasm of ovary | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C1140680 | Malignant neoplasm of ovary | GFPT2 | 9945 | glutamine-fructose-6-phosphate transaminase 2 | O94808 |
| C1141890 | Congenital long QT syndrome | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C1142166 | Brugada Syndrome (disorder) | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C1142166 | Brugada Syndrome (disorder) | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C1142166 | Brugada Syndrome (disorder) | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C1142166 | Brugada Syndrome (disorder) | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C1142166 | Brugada Syndrome (disorder) | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C1145628 | Autonomic nervous system disorders | GLA | 2717 | galactosidase alpha | P06280 |
| C1145628 | Autonomic nervous system disorders | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1145628 | Autonomic nervous system disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1145628 | Autonomic nervous system disorders | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C1145628 | Autonomic nervous system disorders | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1145628 | Autonomic nervous system disorders | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1145628 | Autonomic nervous system disorders | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1145628 | Autonomic nervous system disorders | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C1145628 | Autonomic nervous system disorders | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1145628 | Autonomic nervous system disorders | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
