IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014474
Disease: Ependymoma
Ependymoma
0.140 AlteredExpression disease BEFREE Among gliomas, FGFR3 fusions occur in IDH wild-type diffuse gliomas leading to high FGFR3 protein expression and both, FGFR3 and FGFR1, show elevated expression in aggressive ependymomas. 31660579 2019
CUI: C0014474
Disease: Ependymoma
Ependymoma
0.140 GeneticVariation disease BEFREE But the lack of Isocitrate dehydrogenase 1 (IDH1) mutation as detected by immunohistochemistry in this study, which is similar to ependymomas supports putative origin from ependymoglial cells. 25786545 2015
CUI: C0014474
Disease: Ependymoma
Ependymoma
0.140 GeneticVariation disease BEFREE As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic marker than O(6)-methylguanine-DNA methyltransferase promoter status, we evaluated the presence of IDH1 mutation in Polish patients with astrocytoma, glioblastoma, oligoastrocytoma, ganglioglioma, oligodendroglioma, and ependymoma. 23934769 2014
CUI: C0014474
Disease: Ependymoma
Ependymoma
0.140 GeneticVariation disease BEFREE IDH1 mutations were co-present with TP53 mutations in 63% of low-grade diffuse astrocytomas and with loss of heterozygosity 1p/19q in 64% of oligodendrogliomas; they were rare in pilocytic astrocytomas (10%) and primary glioblastomas (5%) and absent in ependymomas. 19246647 2009
CUI: C0014474
Disease: Ependymoma
Ependymoma
0.140 Biomarker disease HPO