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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 |
|---|---|---|---|---|---|
| C0376480 | Gingival Overgrowth | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0008925 | Cleft Palate | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0005745 | Blepharoptosis | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| 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 |
| C0006142 | Malignant neoplasm of breast | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0032000 | Pituitary Adenoma | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0003850 | Arteriosclerosis | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0009782 | Connective Tissue Diseases | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0400966 | Non-alcoholic Fatty Liver Disease | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0751448 | Polyneuropathy, Familial | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0268281 | Infantile neuronal ceroid lipofuscinosis | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0023524 | Leukoencephalopathy, Progressive Multifocal | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0015695 | Fatty Liver | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
