Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE In summary, our study is the first study to investigate the IDH1 mutation status and MGMT methylation in primary GBMs in Turkish population and confirmed IDH1 mutation as a genetic marker for also primary GBMs. 25455102 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE The metabolic genes isocitrate dehydrogenase 1 (IDH1) and IDH2 are commonly mutated in low-grade glioma and in a subset of glioblastoma. 28980701 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 Biomarker disease BEFREE Consequently, we present a curated panel of 12 readily-usable, genetically-diverse, tumourigenic, patient-derived, low-passage, serum-free cell lines representing the spectrum of molecular subtypes of IDH-wildtype GBM along with their detailed phenotypic characterisation plus a bespoke set of lentiviral plasmids for bioluminescent/fluorescent labelling, gene expression and CRISPR/Cas9-mediated gene inactivation. 30894629 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE A clonal IDH1 R132H mutation in the primary, a known GBM driver event, was detectable at only very low frequency in the recurrent tumour. 25732040 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Epidermal growth factor receptor (EGFR) is a major oncogenic driver in glioblastoma (GBM) without mutations in the isocitrate dehydrogenase gene (IDH-wildtype). 28765916 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE We investigated the prognostic significance of O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation and TP53 mutation status dependent on isocitrate dehydrogenase 1 (IDH1) mutation in glioblastoma patients. 25605197 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Patients with IDH1/2 wild-type gliomas and glioblastoma-like genomic alterations, including gain on chromosome arm 7q (+7q), loss on chromosome arm 10q (-10q), TERT promoter mutation and oncogene amplification, displayed the worst outcome. 25783747 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE An analysis of 2589 patient samples showed that CLEC5A expression is higher in (1) glioblastoma than in lower-grade glioma and nontumor tissue, (2) in the mesenchymal subtype than in other subtypes, and (3) in IDH1-wild type glioblastoma than in IDH1-mutated glioblastoma. 31591460 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 Biomarker disease BEFREE Ten newly diagnosed, isocitrate dehydrogenase 1 (IDH1) wildtype GBM tumor samples were obtained from 2 (n = 9) or 4 (n = 1) spatially distinct tumor regions. 29244145 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 AlteredExpression disease BEFREE In recurrent GBM with wild-type IDH1, high LTBP4 expression is associated with worse prognosis, highlighting the TGF-β pathway as a potential therapeutic target in GBM. 27270107 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE This effect was not observed in patients with IDH1 mutant (IDH1Mut) GBM. 31746408 2020
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Amongst the radiographic responders, IDH1 mutant GBMs still demonstrated significant progression-free and overall survival benefit. 24305712 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE The shorter interval of progression and negative IDH1-R132H mutation status suggest a similar molecular pathway as seen in primary GBM. 22197544 2012
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE In both the GBM and LGG cohort study, most of the patients in the high-risk group had the IDH1 wild-type gene, and those in the low-risk group had IDH1 mutations. 30894197 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 Biomarker disease BEFREE Moreover, HLA-F was enriched in GBM and isocitrate dehydrogenase 1 wild-type (IDH1 wt) group and considered HLA-F as a mesenchymal subtype marker. 30755240 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 AlteredExpression disease BEFREE The total NADPH production capacity in glioblastoma was provided for 65% by IDH activity and the occurrence of IDH1 (R132 ) mutation reduced this capacity by 38%. 20127344 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 Biomarker disease BEFREE In this study, having access to IDH1 wild-type glioblastoma of patients with exceptionally long recurrence free survival (RFS), we decided to compare their mutational and gene expression profile to groups of IDH1 wild-type glioblastoma of patients with shorter RFS, by using NGS technology. 29844869 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE No significant difference was observed in the frequency of amplification of these genes in primary and secondary glioblastomas or in glioblastomas with and without IDH1 mutations, suggesting that amplification of PDGFRA, KIT and KDR may be implicated in the pathogenesis of a small fraction of both subtypes of glioblastoma. 21382095 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Molecular profiling has uncovered genetic subtypes of glioblastoma (GBM), including tumors with IDH1 mutations that confer increase survival and improved response to standard-of-care therapies. 26817999 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Epigenetic profiles can provide molecular markers for patient prognosis: recently, a G-CIMP positive phenotype associated with IDH1 mutations has been described for GBMs with good prognosis. 23291739 2013
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE The autoradiographic study shows the entirely higher radioactivity of the U251/IDH1 R132H tumor tissue section than that of the U251/IDH1 Wild-type tumor. 31667733 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 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