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 |
---|---|---|---|---|---|
C0020456 | Hyperglycemia | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
C0005586 | Bipolar Disorder | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
C1368683 | Epithelioma | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
C0520679 | Sleep Apnea, Obstructive | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
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 |
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Last updated: August 19, 2024