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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 |
|---|---|---|---|---|---|
| C3495436 | American cutaneous leishmaniasis | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0002453 | Amenorrhea | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0002453 | Amenorrhea | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0002453 | Amenorrhea | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C2931783 | Amelogenesis imperfecta nephrocalcinosis | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0002452 | Amelogenesis Imperfecta | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0002452 | Amelogenesis Imperfecta | MMP25 | 64386 | matrix metallopeptidase 25 | Q9NPA2 |
| C0002448 | Ameloblastoma | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0002448 | Ameloblastoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0002448 | Ameloblastoma | SDC1 | 6382 | syndecan 1 | P18827 |
| C0002448 | Ameloblastoma | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0002448 | Ameloblastoma | RECK | 8434 | reversion inducing cysteine rich protein with kazal motifs | O95980 |
| C0002448 | Ameloblastoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0002448 | Ameloblastoma | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0002448 | Ameloblastoma | GPC3 | 2719 | glypican 3 | P51654 |
| C0002448 | Ameloblastoma | GPC1 | 2817 | glypican 1 | P35052 |
| C0002448 | Ameloblastoma | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0002448 | Ameloblastoma | SDC2 | 6383 | syndecan 2 | P34741 |
| C0002448 | Ameloblastoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0013370 | Amebic colitis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0013370 | Amebic colitis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0013370 | Amebic colitis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0013370 | Amebic colitis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0002438 | Amebiasis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0002438 | Amebiasis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
