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 | 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 |
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 |
C3887892 | Aortic Valve Disease 1 | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
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Last updated: August 19, 2024