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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Arch Pathol Lab Med 138:241-256, 2014) in addition to serving as surrogate markers for molecular alterations in neoplasms, including IDH1 and ATRX mutations in brain tumors (Appin CL, Brat DJ.Mol Aspects Med.45:87-96, 2015). 30539453 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE IDH1 and IDH2, which catalyse the interconversion of isocitrate and 2-OG, are frequently mutated in human brain tumours and leukaemias. 22343896 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Our findings indicate that CDKN2A/B risk genotypes are associated with primary glioblastoma without IDH mutation, and that there is an inverse association between RTEL1 risk genotypes and 1p/19q codeletion, suggesting that these genetic variants have a molecular impact on the genesis of high graded brain tumors. 26839018 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 AlteredExpression group BEFREE Patients with wild-type IDH1 brain tumors and high podoplanin expression had a significantly increased VTE risk compared with those with mutant IDH1 tumors and no podoplanin expression (6-month risk 18.2% vs. 0%). 29676036 2018
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Characterization of R132H mutation-specific IDH1 antibody binding in brain tumors. 19903171 2010
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Here we investigated the ability of magnetic resonance spectroscopy (MRS) to detect 2-HG production in order to non-invasively identify patients with IDH1 mutant brain tumors. 22015945 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Pyrosequencing of IDH1 and IDH2 mutations in brain tumors and non-neoplastic conditions. 23111198 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE The new 2016 WHO brain tumor classification defines different diffuse gliomas primarily according to the presence or absence of IDH mutations ( IDH-mt) and combined 1p/19q loss. 28640702 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 AlteredExpression group BEFREE We used human glioma tissues and derived brain tumor stem cells (BTSCs) to study the expression of HIF1α target genes in IDH mutant ((mt)) and IDH wild-type ((wt)) tumors. 24366912 2014
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE IDH1 and IDH2 mutations are prognostic but not predictive for outcome in anaplastic oligodendroglial tumors: a report of the European Organization for Research and Treatment of Cancer Brain Tumor Group. 20160062 2010
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Here, we describe the isolation of a glioma brain tumor stem cell line (BT142) with an endogenous R132H mutation in IDH1, aggressive tumor-initiating capacity, and 2-HG production. 22166263 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Co-deletion of chromosome 1p/19q and IDH1/2 mutation in glioma subsets of brain tumors in Chinese patients. 22427879 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE To address this, we analyzed IDH1(R132) and IDH2(R172) mutation status 53 metastatic brain tumors, including nine melanoma metastases. 20603105 2010
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE This study demonstrates the feasibility, specificity, and selectivity of using MR detection and quantification of 2HG for the diagnosis and classification of IDH1/2 mutation-positive brain tumors. 22426639 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE Somatic mutation of isocitrate dehydrogenase 1 (IDH1) is now recognized as the most common initiating event for secondary glioblastoma, a brain tumor type arising with high frequency in the frontal lobe. 25225364 2014
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE Exon 4 of IDH1 and IDH2 was analyzed in a series of brain tumors classified according to current WHO criteria. 29535392 2018
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE Mutation-specific IDH1 antibody differentiates oligodendrogliomas and oligoastrocytomas from other brain tumors with oligodendroglioma-like morphology. 21069360 2011
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE We analyzed the genomic region spanning wild type R132 of IDH1 by direct sequencing in 685 brain tumors including 41 pilocytic astrocytomas, 12 subependymal giant cell astrocytomas, 7 pleomorphic xanthoastrocytomas, 93 diffuse astrocytomas, 120 adult glioblastomas, 14 pediatric glioblastomas, 105 oligodendrogliomas, 83 oligoastrocytomas, 31 ependymomas, 58 medulloblastomas, 9 supratentorial primitive neuroectodermal tumors, 17 schwannomas, 72 meningiomas and 23 pituitary adenomas. 18985363 2008
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Another mitochondrial and TCA cycle-related protein, isocitrate dehydrogenase 2 is, together with IDH1, frequently mutated in the brain tumour glioblastoma. 20304625 2010
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group CLINVAR An inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cells. 23558169 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 CausalMutation group CGI