Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 CausalMutation disease CGI
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 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
0.400 GeneticVariation disease BEFREE By direct genomic DNA sequencing, we analyzed exon 4 of the IDH1 and IDH2 genes that harbored the mutation hot spots codon 132 and 172 of the two genes in glioblastoma, respectively, in 12 thyroid cancer cell lines, 20 FTC, and 18 ATC tumor samples. 20171178 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 GeneticVariation disease BEFREE Subsequent studies have confirmed recurrent IDH1 and IDH2 mutations in up to 70% of low-grade glioma and secondary GBM, as well as in 10% of acute myeloid leukemia (AML) cases. 20692206 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 GeneticVariation disease BEFREE The discovery of somatic mutations in the isocitrate dehydrogenase (IDH) enzymes through a genome-wide mutational analysis in glioblastoma represents a milestone event in cancer biology. 20972461 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 GeneticVariation disease BEFREE Some findings, such as that of IDH mutation in low-grade gliomas and secondary glioblastoma (GBM), fit well into established notions of different routes of gliomagenesis. 21465149 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 AlteredExpression disease BEFREE IDH activity was the main provider of NADPH in human normal brain and glioblastoma, but its role was modest in NADPH production in rodent brain and other tissues. 21527585 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 GeneticVariation disease BEFREE In spite of a recent surge in elucidating the tumorigenic activity of IDH mutations in glioblastoma, the underlying biological mechanisms remain poorly understood. 22309944 2012
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 Biomarker disease BEFREE Recent whole-genome studies revealed novel GBM prognostic biomarkers such as mutations in metabolic enzyme IDH-isocitrate dehydrogenases (IDH1 and IDH2). 24511544 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 Biomarker disease BEFREE Combined analysis of TERT, EGFR, and IDH status defines distinct prognostic glioblastoma classes. 25150284 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 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
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 Biomarker disease BEFREE Mutations of isocitrate dehydrogenase isoform 1 and 2 (IDH1 and IDH2) genes have been identified in glioblastoma and acute myeloid leukemia (AML). 25486927 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 GeneticVariation disease BEFREE While consensus has not been reached on the precise nature and means to sub-classify GBM, it is clear that IDH-mutant GBMs are clearly distinct from GBMs without IDH1/2 mutation with respect to molecular and clinical features, including prognosis. 25943888 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 GeneticVariation disease BEFREE Most lower-grade gliomas without an IDH mutation were molecularly and clinically similar to glioblastoma. 26061751 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 Biomarker disease BEFREE IDH (mut) GBM tumors demonstrated significantly higher levels of overall CNAs compared to lower grade IDH (mut) tumors and all grades of IDH (wt) tumors, and IDH (mut) GBMs also demonstrated significant increase in incidence of chromothripsis. 26091668 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 GeneticVariation disease BEFREE IDH-Mutation Is a Weak Predictor of Long-Term Survival in Glioblastoma Patients. 26158269 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 GeneticVariation disease BEFREE One hundred twenty-six tumors could be classified: 20 as type II (IDH mutation [mut], "astrocytoma"), 49 as type I (1p/19q codeletion, "oligodendroglioma"), 55 as type III (7+/10q- or TERTmut and 1p/19q intact, "glioblastoma"), and 2 as childhood glioblastoma (H3F3Amut), leaving 7 unclassified (total 91% classified). 26354927 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 GeneticVariation disease BEFREE Mutations in IDH genes are observed in over 70% of low-grade gliomas and some cases of glioblastoma. 26485760 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 Biomarker disease BEFREE Our data reveal that the methylation profiles in 23 of the 25 GC tumors corresponded to either IDH mutant astrocytoma (n = 6), IDH mutant and 1p/19q codeleted oligodendroglioma (n = 5), or IDH wild-type glioblastoma including various molecular subgroups, i.e., H3F3A-G34 mutant (n = 1), receptor tyrosine kinase 1 (RTK1, n = 4), receptor tyrosine kinase 2 (classic) (RTK2, n = 2) or mesenchymal (n = 5) glioblastoma groups. 26493382 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 PosttranslationalModification disease BEFREE IDH mutation and MGMT promoter methylation in glioblastoma: results of a prospective registry. 26503470 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 GeneticVariation disease BEFREE Finally, five tumors were IDH wild-type (IDHwt) and had chromosome seven gains, chromosome 10 losses, and homozygous 9p deletions (CDKN2A), alterations typical of IDHwt (primary) GBM. 26757882 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 Biomarker disease BEFREE MGMT promoter methylation status is currently the only established molecular prognosticator in IDH wild-type glioblastoma multiforme (GBM). 26934681 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.400 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