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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 |
|---|---|---|---|---|---|
| C1567741 | Alport Syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1567741 | Alport Syndrome | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C1567741 | Alport Syndrome | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C1568247 | Usher Syndrome, Type I | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C1568248 | Usher Syndrome, Type III | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C1568272 | Tendinopathy | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1568272 | Tendinopathy | VCAN | 1462 | versican | P13611 |
| C1568272 | Tendinopathy | DCN | 1634 | decorin | P07585 |
| C1568272 | Tendinopathy | ACAN | 176 | aggrecan | P16112 |
| C1568272 | Tendinopathy | PRNP | 5621 | prion protein | P04156 |
| C1568272 | Tendinopathy | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1568272 | Tendinopathy | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1568272 | Tendinopathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C1568272 | Tendinopathy | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C1568363 | Tendinosis | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C1568363 | Tendinosis | VCAN | 1462 | versican | P13611 |
| C1568363 | Tendinosis | DCN | 1634 | decorin | P07585 |
| C1568363 | Tendinosis | ACAN | 176 | aggrecan | P16112 |
| C1568363 | Tendinosis | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C1568363 | Tendinosis | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1568868 | Oral Mucositis | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1569637 | Adenocarcinoma, Endometrioid | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1569637 | Adenocarcinoma, Endometrioid | ACSL5 | 51703 | acyl-CoA synthetase long chain family member 5 | Q9ULC5 |
| C1569637 | Adenocarcinoma, Endometrioid | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1569637 | Adenocarcinoma, Endometrioid | SIRT4 | 23409 | sirtuin 4 | Q9Y6E7 |
