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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 |
|---|---|---|---|---|---|
| C0003504 | Aortic Valve Insufficiency | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0003504 | Aortic Valve Insufficiency | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0003504 | Aortic Valve Insufficiency | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0003504 | Aortic Valve Insufficiency | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0003504 | Aortic Valve Insufficiency | STS | 412 | steroid sulfatase | P08842 |
| C0003504 | Aortic Valve Insufficiency | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0003504 | Aortic Valve Insufficiency | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0003504 | Aortic Valve Insufficiency | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0003504 | Aortic Valve Insufficiency | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0003504 | Aortic Valve Insufficiency | CAT | 847 | catalase | P04040 |
| C0003504 | Aortic Valve Insufficiency | PTGES3 | 10728 | prostaglandin E synthase 3 | Q15185 |
| C0003504 | Aortic Valve Insufficiency | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0003504 | Aortic Valve Insufficiency | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0003504 | Aortic Valve Insufficiency | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0003504 | Aortic Valve Insufficiency | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0003504 | Aortic Valve Insufficiency | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0003504 | Aortic Valve Insufficiency | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0003504 | Aortic Valve Insufficiency | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0003504 | Aortic Valve Insufficiency | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0003504 | Aortic Valve Insufficiency | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0003493 | Aortic Diseases | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0003493 | Aortic Diseases | CAT | 847 | catalase | P04040 |
| C0003493 | Aortic Diseases | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0003493 | Aortic Diseases | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0003486 | Aortic Aneurysm | GAA | 2548 | glucosidase alpha, acid | P10253 |
