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: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease UNIPROT
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease LHGDN IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. 19117336 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease LHGDN The enzymatic activity of the proteins that were produced from normal and mutant IDH1 and IDH2 genes was determined in cultured glioma cells that were transfected with these genes. 19228619 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 CausalMutation disease CGI
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease CTD_human Mutational landscape and clonal architecture in grade II and III gliomas. 25848751 2015
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease CTD_human To understand the molecular mechanisms underlying the malignant progression of low-grade gliomas with mutations in IDH1 (encoding isocitrate dehydrogenase 1), we studied paired tumor samples from 41 patients, comparing higher-grade, progressed samples to their lower-grade counterparts. 26618343 2016
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease CTD_human Epigenetic silencing of XAF1 in high-grade gliomas is associated with IDH1 status and improved clinical outcome. 28122345 2017
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease CTD_human Selective inhibition of mutant isocitrate dehydrogenase 1 (IDH1) via disruption of a metal binding network by an allosteric small molecule. 25391653 2015
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease CTD_human IDH1 mutations are a novel positive prognostic factor in anaplastic gliomas, with a favorable impact stronger than that of 1p/19q codeletion or MGMT promoter methylation. 19901110 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Homodisomy of chromosome 17p (CNLOH 17p) is a frequent feature in IDH-mutated 1p19q non-codeleted gliomas (group 2). 27401888 2016
CUI: C0017638
Disease: Glioma
Glioma
0.700 AlteredExpression disease BEFREE Several alterations like <i>IDH1/2</i> mutations that interfere with "epigenetic modifier" enzymes, the mutations of the histone 3 variants H3.1 and H3.3 that alter the global H3K27me3 levels and the altered expression of histone methyltransferases and demethylases are considered potentially druggable targets in glioma and molecules targeting these alterations are being tested in preclinical and clinical trials. 30386738 2018
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Our study provides direct evidence that mutation of IDH1 profoundly inhibits the growth of glioma cells, and we speculate that this is the major factor behind its association with prolonged survival in glioma. 24362902 2014
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Mutations in the IDH1 gene at position R132 coding for the enzyme cytosolic isocitrate dehydrogenase are known in glioma and have recently been detected also in acute myeloid leukemia (AML). 20805365 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Among IDH-wildtype gliomas, an even higher portion (44.4%, 67/151) showed significantly larger BTVs in the early summation images, which was observed in 5.3% (5/94) of IDH-mutant gliomas only: most of the latter had significantly smaller BTVs in the early summation images, i.e. 29487977 2018
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Examination of the relationship between the mutation status and other pertinent variables demonstrated a significant male predominance among IDH1-mutated gliomas, most notably in grade III to IV astrocytic neoplasms. 23111198 2012
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE IDH mutations are a favorable prognostic factor for human glioma and can be used as biomarker for differential diagnosis and subclassification rather than predictor of response to treatment. 22002076 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Our results indicate that to better treat gliomas, IDH mutation status should be included when determining WHO2007 grade in glioma patients. 27120786 2016
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE We determined the levels of D-2-hydroxyglutarate in glioma tissues with IDH1 mutations. 24529257 2014
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Analysis of Raman spectra revealed increased intensities in spectral bands related to DNA in IDH1 mutant glioma while bands assigned to molecular vibrations of lipids were significantly decreased. 29761368 2018
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha. 19359588 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE IDH2 mutations were associated with better outcomes compared with IDH wild-type gliomas (P < 0.05). 31833906 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE The metabolomics data were tested for correlation with glioma grade (high vs low), glioblastoma (GBM) versus malignant gliomas, and IDH mutation status. 26967252 2016
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE To address this, we investigated molecular and prognostic features of grade III glioma with and without IDH1/2 mutation. 21971842 2012
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Interestingly, glutamate levels were significantly decreased in IDH1 mutant gliomas. 27154922 2016
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE We investigated the impact of IDH1 mutations on spontaneous glioma growth rate, known to be an early prognostic factor.The mean tumor diameter was assessed on the first MRI performed at diagnosis and on a second MRI, performed immediately before surgery, in a series of 64 WHO grade II gliomas. 22392125 2012