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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 |
|---|---|---|---|---|---|
| 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 |
| C0027651 | Neoplasms | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0006826 | Malignant Neoplasms | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0020757 | Ichthyoses | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0025958 | Microcephaly | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0033860 | Psoriasis | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0028754 | Obesity | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0013336 | Dwarfism | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0005741 | Blepharitis | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0037274 | Dermatologic disorders | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C1306459 | Primary malignant neoplasm | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0028866 | Oculomotor Nerve Paralysis | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0948008 | Ischemic stroke | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0020635 | Hypopituitarism | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
