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 BEFREE The most frequent IDH1 mutation found in the majority of WHO grade II and III gliomas can be visualized with an antibody specifically detecting mutant IDH1 protein. 20661018 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Recent studies have shown the prognostic significance of IDH1 mutations in glioma. 20160062 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Glioma-derived mutations in IDH: from mechanism to potential therapy. 20510884 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE IDH mutations in glioma and acute myeloid leukemia. 20692206 2010
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 We sequenced IDH1 at codon 132 and IDH2 at codon 172 in 33 patients with WHO grade II and III gliomas who benefited from a preoperative (18)F-FDG positron emission tomography (PET). 21643985 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Our observations support the hypothesis that IDH1 mutation may correlate with the benefit from VEGF(R)- versus EGFR-targeted therapy at the time of recurrence in glioma patients. 22199315 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE INA was expressed by 43% of gliomas with IDH1 mutation (n=197) versus 12% of gliomas without IDH1 mutation (n=156) (p<0.0001). 21194923 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE The mechanistic consequences of this mutation have not yet been fully clarified, with conflicting opinions existing in the literature; however, IDH-1 mutation may be used as a surrogate marker to distinguish between primary and secondary glioblastoma multiforme (sGBM) from malignant progression of a lower grade glioma. 21301070 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE NAAG also was significantly lower in human glioma tissues containing IDH mutations than in gliomas without such mutations. 21289278 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Mutations in IDH genes are thought to occur early in tumorigenesis and define a subgroup of glioma that are characterized by specific metabolic changes and improved prognosis. 21955197 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Isocitrate dehydrogenase 1 (IDH1) mutations, which are early and frequent genetic alterations in gliomas, are specific to a single codon in the conserved and functionally important Arginine 132 (R132) in IDH1. 21352804 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Here, we demonstrated that (1) IDH1/2 mutation is closely correlated with MGMT promoter methylation and 1p/19q codeletion in LGGs, (2) LINE-1 methylation levels in primary and secondary GBMs are lower than those in LGGs and normal brain tissues, (3) LINE-1 methylation is proportional to MGMT promoter methylation in gliomas, and (4) higher LINE-1 methylation is a favorable prognostic factor in primary GBMs, even compared to MGMT promoter methylation. 21829728 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Metabolism of glioma and IDH1/IDH2 mutations. 21885076 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Isocitrate dehydrogenase 1 (IDH1) mutations are common in grade II-III diffuse gliomas and secondary glioblastomas. 21213123 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE When compared with de novo GBMs and controls, this latter group was characterized by a very high frequency of IDH1 mutations and by a hypermethylated profile similar to the recently described glioma CpG island methylator phenotype. 20926426 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Investigation revealed a constellation of features that distinguishes IDH1(R132MUT) GBMs from other GBMs (including frontal location and lesser extent of contrast enhancement and necrosis), relates them to lower-grade IDH1(R132MUT) gliomas, and supports the concept that IDH1(R132MUT) gliomas arise from a neural precursor population that is spatially and temporally restricted in the brain. 22025148 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Miscoding mutations and promoter methylation of the TET2 gene were screened for in 29 low-grade diffuse gliomas lacking IDH1/2 mutations. 21690245 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Although much is known about molecular and chromosomal characteristics that distinguish glioma histological subtypes, DNA methylation patterns of gliomas and their association with other tumor features such as mutation of isocitrate dehydrogenase (IDH) genes have only recently begun to be investigated. 21163902 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Expression of most NADPH-producing dehydrogenase genes was not elevated in 34 cancer data sets except for IDH1 in glioma and thyroid cancer, indicating an association with the IDH1 mutation. 21527585 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Recent work has identified novel point mutations in isocitrate dehydrogenase 1 (IDH1) in the majority of the World Health Organization grades II and III infiltrative gliomas and secondary grade IV glioblastomas. 21314850 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE In contrast, BRAF fusion and IDH1 mutation analyses promise to be very helpful for classifying and grading gliomas, while their potential predictive value has yet to be established. 21129061 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE In contrast to this, all of these mutants confer 10- to 100-fold higher 2HG production to cells, and glioma tissues containing IDH1 R132 or IDH2 R172 mutations contain high levels of 2HG compared to glioma tissues without IDH mutations (54.4 vs. 0.1 mg 2HG/g protein). 21326614 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Currently, three molecular markers, related to better outcome, are particularly useful and complement the histological classification: the 1p/19q codeletion strongly predicts prolonged response to treatment and prolonged survival in oligodendroglial tumors; the O(6)-methylguanine-DNA methyltransferase promoter methylation, which is hypothesized to render the cell more vulnerable to alkylants, is associated with a stronger benefit of concomitant chemoradiotherapy in glioblastomas; mutations of the IDH1 (more rarely IDH2) gene affects 40% of gliomas (but 100% of the 1p/19q codeleted gliomas) and is inversely correlated to grade. 21554053 2011
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