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: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE We present the case of a 28-year-old man with an IDH1 and TP53 mutant high grade glioma with abnormalities in chromosomes 1 and 19 suggestive of anaplastic oligodendroglioma that rapidly progressed to widespread metastatic disease. 30738431 2019
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE • APT signals were significantly higher in IDH-wild type compared to IDH-mutant high-grade glioma. 31175415 2019
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE PET with <sup>18</sup>F-GE-180 and <sup>18</sup>F-FET provides differing imaging information in HGG dependent on the IDH-mutational status, with diverging spatial overlap and vast exceedance of contrast-enhancement in MRI. 30244386 2019
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 Biomarker disease BEFREE We retrospectively analyzed 47 patients who underwent an advanced-MR study with DTI followed by surgical intervention with a subsequent histologic diagnosis of High-Grade Glioma (HGG) and immunohistochemical evaluation of IDH1 (Isocitrate DeHydrogenase) mutation status. 31153561 2019
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 Biomarker disease BEFREE Most IDH-wildtype tumors showing histopathological and radiological features of low-grade diffuse astrocytoma exhibit molecular and clinical features of high-grade glioma and may represent an early stage of primary glioblastoma. 29444314 2018
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 Biomarker disease BEFREE Association Between IDH1 and IDH2 Mutations and Preoperative Seizures in Patients with Low-Grade Versus High-Grade Glioma: A Systematic Review and Meta-Analysis. 29288860 2018
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 Biomarker disease BEFREE These data support the possibility of a functional tricarboxylic acid cycle that runs in reductive manner, as a probable mechanism of action of bevacizumab in IDH1 mutated gliomas and propose a new target pathway for effective treatment of malignant gliomas. 30511933 2018
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 Biomarker disease BEFREE CMRO<sub>2</sub> showed the highest diagnostic performance for IDH gene mutation detection in low-grade glioma (AUC, 0.818) and MTI in high-grade glioma (AUC, 0.854) and for all WHO grades (AUC, 0.899) among all biomarkers. 27982759 2017
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE En bloc resection revealed a high-grade glioma with sarcomatous components that was immunoreactive for the R132H variant of IDH1 by antibody. 27153165 2017
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 Biomarker disease CTD_human Epigenetic silencing of XAF1 in high-grade gliomas is associated with IDH1 status and improved clinical outcome. 28122345 2017
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE Integrated genomic characterization of IDH1-mutant glioma malignant progression. 26618343 2016
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE Patient 2, with malignant glioma with primitive neuroectodermal tumor (MGPNET), had a secondary GBM with a noncanonical isocitrate dehydrogenase 1 (IDH1) mutation and 11-year-survival; autopsy showed encasement of the entire bilateral ventricular system by SVS. 26308254 2016
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 Biomarker disease CTD_human Integrated genomic characterization of IDH1-mutant glioma malignant progression. 26618343 2016
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 Biomarker disease BEFREE Patients with IDH1-WT show reduced NCF compared with those with IDH1-M malignant gliomas. 27576872 2016
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE It is proposed that isocitrate dehydrogenase 1 (IDH1) mutation predicts the outcome in patients with high-grade glioma. 26316565 2015
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 AlteredExpression disease BEFREE Classification based on IDH1/2 mutation status and Ki-67 expression level could be more convenient for clinical application and guide personalized treatment in malignant gliomas. 26338964 2015
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE Recent investigations of malignant gliomas have identified additional genetic and chromosomal abnormalities which cluster with IDH1 mutations into two distinct subgroups. 25471051 2015
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 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: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 Biomarker disease CTD_human Mutational landscape and clonal architecture in grade II and III gliomas. 25848751 2015
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE The NRF2 activity is increased in a significant proportion of malignant gliomas in general but decreased in the majority of IDH1/2-mutant anaplastic gliomas. 25304134 2015
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 Biomarker disease BEFREE Recently, mutations of the ATRX gene have been found in various subtypes and grades of gliomas and were shown to refine the prognosis of malignant gliomas in combination with IDH and 1p/19q status. 24559763 2014
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE Isocitrate dehydrogenase 1 gene (IDH1) R132H mutation status was also recently identified as a prognostic factor for malignant gliomas. 24929863 2014
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE We identify miR148a as a novel, G-CIMP-associated miRNA whose methylation is tightly correlated with IDH1 mutation and associated with improved survival in patients with malignant glioma. 25224277 2014
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE The results of this study suggest that IDH1 mutation may be associated with polySia expression pathways in malignant gliomas. 25164322 2014
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE We investigated the expression of Sox11 in 132 diffuse astrocytomas in relation to the regulator cell marker nestin, c-Met and IDH1-R132H, which have shown to be differentially expressed among the molecular subgroups of malignant gliomas, as well as to an inducer of astrocytic differentiation, that is, signal transducer and activator of transcription (p-STAT-3), clinicopathological features and survival. 23619925 2013