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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 |
|---|---|---|---|---|---|
| C0008043 | Chiari-Frommel Syndrome | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0008029 | Cherubism | TNKS | 8658 | tankyrase | O95271 |
| C0008029 | Cherubism | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0007971 | Cheilitis | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0007971 | Cheilitis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0007965 | Chediak-Higashi Syndrome | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0007965 | Chediak-Higashi Syndrome | ANXA5 | 308 | annexin A5 | P08758 |
| C0007965 | Chediak-Higashi Syndrome | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0007965 | Chediak-Higashi Syndrome | LTC4S | 4056 | leukotriene C4 synthase | Q16873 |
| C0007965 | Chediak-Higashi Syndrome | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0393808 | Charcot-Marie-Tooth disease, X-linked, 1 | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C1858278 | Charcot-Marie-Tooth disease, Type 4B2 | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1858278 | Charcot-Marie-Tooth disease, Type 4B2 | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | MTMR1 | 8776 | myotubularin related protein 1 | Q13613 |
| C4082197 | Charcot-Marie-Tooth disease type 4 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C4082197 | Charcot-Marie-Tooth disease type 4 | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C4082197 | Charcot-Marie-Tooth disease type 4 | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C4082197 | Charcot-Marie-Tooth disease type 4 | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0270912 | Charcot-Marie-Tooth Disease, Type Ib | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0270912 | Charcot-Marie-Tooth Disease, Type Ib | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0270911 | Charcot-Marie-Tooth Disease, Type Ia (disorder) | CANX | 821 | calnexin | P27824 |
| C0270911 | Charcot-Marie-Tooth Disease, Type Ia (disorder) | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0270911 | Charcot-Marie-Tooth Disease, Type Ia (disorder) | MAG | 4099 | myelin associated glycoprotein | P20916 |
