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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 |
|---|---|---|---|---|---|
| C1959583 | Myocardial Failure | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C1959583 | Myocardial Failure | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C1959583 | Myocardial Failure | ACLY | 47 | ATP citrate lyase | P53396 |
| C1959583 | Myocardial Failure | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C1959583 | Myocardial Failure | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1959583 | Myocardial Failure | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1959582 | PTEN Hamartoma Tumor Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1959582 | PTEN Hamartoma Tumor Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1959582 | PTEN Hamartoma Tumor Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1959582 | PTEN Hamartoma Tumor Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1959582 | PTEN Hamartoma Tumor Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1956413 | Taussig-Bing Anomaly | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1956412 | Double Outlet Right Ventricle, Subpulmonary VSD | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1956390 | Cranial Arteritis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1956390 | Cranial Arteritis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C1956346 | Coronary Artery Disease | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C1956346 | Coronary Artery Disease | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C1956346 | Coronary Artery Disease | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C1956346 | Coronary Artery Disease | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C1956346 | Coronary Artery Disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1956346 | Coronary Artery Disease | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1956346 | Coronary Artery Disease | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C1956346 | Coronary Artery Disease | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C1956346 | Coronary Artery Disease | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1956346 | Coronary Artery Disease | NDST4 | 64579 | N-deacetylase and N-sulfotransferase 4 | Q9H3R1 |
