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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 |
|---|---|---|---|---|---|
| C0003507 | Aortic Valve Stenosis | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0003507 | Aortic Valve Stenosis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0003507 | Aortic Valve Stenosis | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0003507 | Aortic Valve Stenosis | CD14 | 929 | CD14 molecule | P08571 |
| C0003507 | Aortic Valve Stenosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0003507 | Aortic Valve Stenosis | SDC4 | 6385 | syndecan 4 | P31431 |
| C0003507 | Aortic Valve Stenosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0003507 | Aortic Valve Stenosis | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0003507 | Aortic Valve Stenosis | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0003507 | Aortic Valve Stenosis | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0003507 | Aortic Valve Stenosis | ARSD | 414 | arylsulfatase D | P51689 |
| C0003507 | Aortic Valve Stenosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0003507 | Aortic Valve Stenosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0003507 | Aortic Valve Stenosis | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0003504 | Aortic Valve Insufficiency | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0003504 | Aortic Valve Insufficiency | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| 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 |
