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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 |
|---|---|---|---|---|---|
| C0010276 | Craniopharyngioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0010276 | Craniopharyngioma | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0010276 | Craniopharyngioma | LGALS1 | 3956 | galectin 1 | P09382 |
| C4303860 | Craniofacial ulnar renal syndrome | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C4303860 | Craniofacial ulnar renal syndrome | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C4303860 | Craniofacial ulnar renal syndrome | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C2931196 | Craniofacial dysostosis type 1 | GPC3 | 2719 | glypican 3 | P51654 |
| C2931196 | Craniofacial dysostosis type 1 | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C0010273 | Craniofacial Dysostosis | GPC3 | 2719 | glypican 3 | P51654 |
| C0010273 | Craniofacial Dysostosis | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C0151311 | Cranial nerve palsies | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0151311 | Cranial nerve palsies | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0151311 | Cranial nerve palsies | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0151311 | Cranial nerve palsies | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0151311 | Cranial nerve palsies | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0151311 | Cranial nerve palsies | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0151311 | Cranial nerve palsies | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0151311 | Cranial nerve palsies | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1956390 | Cranial Arteritis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1956390 | Cranial Arteritis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C2973787 | Coxiella burnetii Infection | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C2973787 | Coxiella burnetii Infection | LSS | 4047 | lanosterol synthase | P48449 |
| C0010232 | Cowpox | CDS1 | 1040 | CDP-diacylglycerol synthase 1 | Q92903 |
| C0587248 | Costello syndrome (disorder) | CHST11 | 50515 | carbohydrate sulfotransferase 11 | Q9NPF2 |
| C0587248 | Costello syndrome (disorder) | GLB1 | 2720 | galactosidase beta 1 | P16278 |
