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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 |
|---|---|---|---|---|---|
| C1306600 | Radial nerve palsy | PRNP | 5621 | prion protein | P04156 |
| C1306600 | Radial nerve palsy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0266508 | Rachischisis | CHKA | 1119 | choline kinase alpha | P35790 |
| C0266508 | Rachischisis | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0034494 | Rabies (disorder) | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0034494 | Rabies (disorder) | HPSE | 10855 | heparanase | Q9Y251 |
| C0034494 | Rabies (disorder) | ENOSF1 | 55556 | enolase superfamily member 1 | Q7L5Y1 |
| C0034494 | Rabies (disorder) | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0034494 | Rabies (disorder) | PIP5K1C | 23396 | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | O60331 |
| C0034494 | Rabies (disorder) | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0034494 | Rabies (disorder) | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0034494 | Rabies (disorder) | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0034494 | Rabies (disorder) | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0034494 | Rabies (disorder) | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0034494 | Rabies (disorder) | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0034494 | Rabies (disorder) | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0034494 | Rabies (disorder) | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0034494 | Rabies (disorder) | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0034494 | Rabies (disorder) | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C1859133 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C3714753 | RETINOSCHISIS 1, X-LINKED, JUVENILE | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C3714753 | RETINOSCHISIS 1, X-LINKED, JUVENILE | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1867300 | RETINITIS PIGMENTOSA 9 | LPIN1 | 23175 | lipin 1 | Q14693 |
| C4225287 | RETINITIS PIGMENTOSA 73 | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C3151227 | RETINITIS PIGMENTOSA 59 | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
