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
Displaying entries 6026 - 6050 of 62743 in total
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