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 CausalMutation group CGI
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 Biomarker group BEFREE Heterozygous mutations in the gene encoding isocitrate dehydrogenase-1 (IDH1) occur in certain human brain tumors, but their mechanistic role in tumor development is unknown. 19359588 2009
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE We assessed IDH1 mutations in brain tumors diagnosed in patients from three families with Li-Fraumeni syndrome. 19340432 2009
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 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 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 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 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 GeneticVariation group BEFREE Acquired somatic mutations of IDH1 and IDH2 have recently been reported in some types of brain tumors and a small proportion of acute myeloid leukemia (AML) cases. 22397365 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE We investigated IDH1 mutations in a series of 134 brain tumors to determine the prevalence and prognostic impact of IDH1 mutations. 22922798 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE We also used targeted genotyping to examine the role of tumor-related genes in brain tumor development and specifically examined the clinical consequences of MAE at TP53 and IDH1. 22144470 2012
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 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 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 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 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 BEFREE Cytosolic isocitrate dehydrogenase 1 (IDH1) with an R132H mutation in brain tumors loses its enzymatic activity for catalyzing isocitrate to α-ketoglutarate (α-KG) and acquires new activity whereby it converts α-KG to 2-hydroxyglutarate. 24077277 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE There is growing interest in identification of diagnostic, prognostic or predictive blood biomarkers in CNS tumor patients, and emerging studies indicate that certain brain tumors are indeed associated with distinct profiles of circulating factors such as proteins (e.g., glial fibrillary acidic protein), DNA fragments (e.g., containing mutated IDH) or miRNAs (e.g., miRNA-21). 23547822 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE Recently, aberrant methylation of MLH1, MGMT and MSI were shown to be associated with mutations in genes such as BRAF, RAS and IDH1 in colon and brain tumours. 23414134 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE IDH mutation screening is rapidly becoming part of the routine pathological work up of human brain tumors, providing both diagnostic and prognostic information. 23307057 2013
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 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