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 56701 - 56725 of 62743 in total
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