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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 |
|---|---|---|---|---|---|
| C0220668 | Congenital contractural arachnodactyly | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0393851 | Polyneuropathy, Critical Illness | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C1261470 | Congenital meningocele | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0008372 | Intrahepatic Cholestasis | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0175694 | Smith-Lemli-Opitz Syndrome | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0014556 | Epilepsy, Temporal Lobe | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0003803 | Arnold Chiari Malformation | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0266544 | Microcornea | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C4721806 | Carcinoma, Basal Cell | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C2981150 | Uranostaphyloschisis | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0025958 | Microcephaly | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C3714756 | Intellectual Disability | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0000768 | Congenital Abnormality | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| 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 |
