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 ▲ |
---|---|---|---|---|---|
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 |
C1621958 | Glioblastoma Multiforme | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0017638 | Glioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0555198 | Malignant Glioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0027651 | Neoplasms | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0334579 | Anaplastic astrocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0020981 | Angioimmunoblastic Lymphadenopathy | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0017636 | Glioblastoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0280475 | Childhood Oligodendroglioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0278878 | Adult Glioblastoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0220668 | Congenital contractural arachnodactyly | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0006826 | Malignant Neoplasms | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0220621 | Childhood Acute Myeloid Leukemia | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0023467 | Leukemia, Myelocytic, Acute | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C1514422 | Glioblastoma, IDH-Wildtype | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0004114 | Astrocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0030421 | Paraganglioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0005967 | Bone neoplasms | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0024305 | Lymphoma, Non-Hodgkin | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
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Last updated: August 19, 2024