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: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Staining of mutant IDH1 was positive in nine neoplastic lesions (3 diffuse astrocytomas, 2 anaplastic astrocytomas, and 1 oligodendroglioma, oligoastrocytoma, anaplastic oligodendroglioma, and glioblastoma); it was negative in all ten non-neoplastic lesions. 23064941 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. 23079654 2012
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro. 23115158 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE The presented approach is applicable for prospective validation and appears promising towards an effective glioblastoma patient stratification in addition to IDH mutations. 23250732 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Glioblastoma with oligodendroglial component represents a subgroup of glioblastoma with high prevalence of IDH1 mutation and association with younger age. 23412777 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Complete 1p/19q co-deletion, MGMT promoter methylation and/or IDH1 mutation generally signified a better prognosis for patients with a diffuse glioma including glioblastoma. 23429602 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE PDGFRA amplification is common in pediatric and adult high-grade astrocytomas and identifies a poor prognostic group in IDH1 mutant glioblastoma. 23438035 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 Biomarker disease BEFREE Prevalences of mutations of isocitrate dehydrogenase 1 (IDH1) and histone H3.3 (H3F3A), the glioma cytosine-phosphate-guanine island methylator phenotype (G-CIMP), and methylation of alkylpurine DNA N-glycosylase (APNG) and peroxiredoxin 1 (PRDX1) promoters were determined in a representative biomarker subset (n = 126 patients with anaplastic astrocytoma or glioblastoma) from the NOA-08 trial. 23595628 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Therefore, the findings from this meta-analysis suggest that IDH1 mutation is associated with improved overall survival in patients with glioblastoma. 23904262 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Independent analysis of the publically available TCGA glioblastoma dataset confirmed our strong association between cMYC and mutant IDH1 expression. 23934175 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Significant differences in the median overall survival were observed in astrocytoma patients grouped on the basis of the presence of IDH1 mutation: survival was 24 months longer in grade II astrocytoma and 12 months longer in glioblastoma. 23934769 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Isocitrate dehydrogenase 1 (IDH1) mutation-specific microRNA signature predicts favorable prognosis in glioblastoma patients with IDH1 wild type. 23988086 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 Biomarker disease BEFREE Using (13)C magnetic resonance spectroscopy in combination with dissolution dynamic nuclear polarization, the metabolic fate of hyperpolarized [1-(13)C] α-ketoglutarate is studied in isogenic glioblastoma cells that differ only in their IDH1 status. 24019001 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Here we show that SREBPs were up-regulated in U87 human glioblastoma cells transfected with an IDH1(R132H)-expression plasmid. 24077277 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE We investigated whether stem cell marker expression [CD133, CD34, and vascular endothelial growth factor (VEGF)] and IDH1 mutation correlate with clinical factors and prognosis in glioblastoma. 24129546 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Increased sensitivity to radiochemotherapy in IDH1 mutant glioblastoma as demonstrated by serial quantitative MR volumetry. 24305712 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 Biomarker disease BEFREE We sought to determine the impact of surgical resection on survival after controlling for IDH1 status in malignant astrocytomas-World Health Organization grade III anaplastic astrocytomas and grade IV glioblastoma. 24305719 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE We also found that overexpression of αB-crystallin can be induced by transfecting U251 human glioblastoma cell lines with the IDH1(R132H) mutation. 24473683 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Biopsy resulted in a diagnosis of glioblastoma with methylated MGMT promoter and wild-type IDH1. 24473978 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 PosttranslationalModification disease BEFREE The combination of IDH1 mutations and MGMT methylation outperforms either IDH1 mutations or MGMT methylation alone in predicting survival of glioblastoma patients. 24510240 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Thus, our data support an important role for MGMT promoter methylation and IDH1/2 mutation in glioblastoma long-term survival and corroborate the association of IDH1/2 mutation with distinct genomic and transcriptional profiles. 24615357 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 Biomarker disease BEFREE Genomic profiling reveals distinctive molecular relapse patterns in IDH1/2 wild-type glioblastoma. 24706357 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 Biomarker disease BEFREE We investigated two isogenic glioblastoma lines that differed only in their IDH1 status and performed experiments in live cells and in vivo in rat orthotopic tumors. 24876103 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 Biomarker disease BEFREE Combined analysis of TERT, EGFR, and IDH status defines distinct prognostic glioblastoma classes. 25150284 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an "integrated" diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. 25427834 2015