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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 | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0003504 | Aortic Valve Insufficiency | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0003504 | Aortic Valve Insufficiency | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0003504 | Aortic Valve Insufficiency | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0003504 | Aortic Valve Insufficiency | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0003504 | Aortic Valve Insufficiency | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0003504 | Aortic Valve Insufficiency | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0003504 | Aortic Valve Insufficiency | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0003504 | Aortic Valve Insufficiency | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| 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 |
