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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID ▼ |
---|---|---|---|---|---|
C0026987 | Myelofibrosis | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0001418 | Adenocarcinoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C1516490 | Cholangiolocellular Carcinoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0024299 | Lymphoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0007112 | Adenocarcinoma of prostate | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C1321865 | Juvenile astrocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0279680 | Transitional cell carcinoma of bladder | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C1333292 | Diffuse infiltrative lymphocytosis syndrome | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0740345 | Germ Cell Cancer | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C1266177 | Dysembryoplastic neuroepithelial tumor | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C1333067 | Clear Cell Hepatocellular Carcinoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
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 |
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Last updated: August 19, 2024