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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 | 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 |
| C0003507 | Aortic Valve Stenosis | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0003507 | Aortic Valve Stenosis | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0003507 | Aortic Valve Stenosis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0003507 | Aortic Valve Stenosis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0003507 | Aortic Valve Stenosis | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0003507 | Aortic Valve Stenosis | CTSA | 5476 | cathepsin A | P10619 |
| C0003507 | Aortic Valve Stenosis | PSAP | 5660 | prosaposin | P07602 |
| C0003507 | Aortic Valve Stenosis | OGA | 10724 | O-GlcNAcase | O60502 |
| C0003507 | Aortic Valve Stenosis | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0003507 | Aortic Valve Stenosis | ENO3 | 2027 | enolase 3 | P13929 |
| C0003507 | Aortic Valve Stenosis | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0003507 | Aortic Valve Stenosis | LGALS4 | 3960 | galectin 4 | P56470 |
| C0003507 | Aortic Valve Stenosis | MPG | 4350 | N-methylpurine DNA glycosylase | P29372 |
| C0003507 | Aortic Valve Stenosis | SDC1 | 6382 | syndecan 1 | P18827 |
| C0003507 | Aortic Valve Stenosis | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0003507 | Aortic Valve Stenosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0003507 | Aortic Valve Stenosis | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0003507 | Aortic Valve Stenosis | FH | 2271 | fumarate hydratase | P07954 |
| C0003507 | Aortic Valve Stenosis | LGALS3 | 3958 | galectin 3 | P17931 |
| C0003507 | Aortic Valve Stenosis | STS | 412 | steroid sulfatase | P08842 |
| C0003507 | Aortic Valve Stenosis | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
