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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 | 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 |
| C0428791 | Aortic valve calcification | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0428791 | Aortic valve calcification | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0428791 | Aortic valve calcification | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0428791 | Aortic valve calcification | STS | 412 | steroid sulfatase | P08842 |
| C0428791 | Aortic valve calcification | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1260873 | Aortic valve disorder | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C1260873 | Aortic valve disorder | KL | 9365 | klotho | Q9UEF7 |
| C1260873 | Aortic valve disorder | ACAN | 176 | aggrecan | P16112 |
| C1260873 | Aortic valve disorder | STS | 412 | steroid sulfatase | P08842 |
| C1260873 | Aortic valve disorder | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1260873 | Aortic valve disorder | PLPP3 | 8613 | phospholipid phosphatase 3 | O14495 |
| C1260873 | Aortic valve disorder | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0003509 | Aortitis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0003509 | Aortitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0003509 | Aortitis | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C1853230 | Aphakia, congenital primary | NTM | 50863 | neurotrimin | Q9P121 |
