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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 ▼ |
|---|---|---|---|---|---|
| C0015934 | Fetal Growth Retardation | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0036572 | Seizures | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0027066 | Myoclonus | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0040034 | Thrombocytopenia | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0023895 | Liver diseases | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0025362 | Mental Retardation | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C1384666 | hearing impairment | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C1837218 | Cleft palate, isolated | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0086565 | Liver Dysfunction | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0086543 | Cataract | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C1301937 | Talipes | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0152427 | Polydactyly | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0014544 | Epilepsy | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0024623 | Malignant neoplasm of stomach | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0699790 | Colon Carcinoma | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0023890 | Liver Cirrhosis | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0006826 | Malignant Neoplasms | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0205824 | Liposarcoma, Dedifferentiated | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0027651 | Neoplasms | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0020258 | Hydrocephalus, Normal Pressure | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0345904 | Malignant neoplasm of liver | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C1306459 | Primary malignant neoplasm | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0220668 | Congenital contractural arachnodactyly | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0023903 | Liver neoplasms | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C2239176 | Liver carcinoma | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
