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 Homodisomy of chromosome 17p (CNLOH 17p) is a frequent feature in IDH-mutated 1p19q non-codeleted gliomas (group 2). 27401888 2016
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Our study provides direct evidence that mutation of IDH1 profoundly inhibits the growth of glioma cells, and we speculate that this is the major factor behind its association with prolonged survival in glioma. 24362902 2014
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Mutations in the IDH1 gene at position R132 coding for the enzyme cytosolic isocitrate dehydrogenase are known in glioma and have recently been detected also in acute myeloid leukemia (AML). 20805365 2010
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
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Our results indicate that to better treat gliomas, IDH mutation status should be included when determining WHO2007 grade in glioma patients. 27120786 2016
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE We determined the levels of D-2-hydroxyglutarate in glioma tissues with IDH1 mutations. 24529257 2014
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Analysis of Raman spectra revealed increased intensities in spectral bands related to DNA in IDH1 mutant glioma while bands assigned to molecular vibrations of lipids were significantly decreased. 29761368 2018
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha. 19359588 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease LHGDN IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. 19117336 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 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
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE To address this, we investigated molecular and prognostic features of grade III glioma with and without IDH1/2 mutation. 21971842 2012
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Interestingly, glutamate levels were significantly decreased in IDH1 mutant gliomas. 27154922 2016
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE We investigated the impact of IDH1 mutations on spontaneous glioma growth rate, known to be an early prognostic factor.The mean tumor diameter was assessed on the first MRI performed at diagnosis and on a second MRI, performed immediately before surgery, in a series of 64 WHO grade II gliomas. 22392125 2012
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE The Student's t test and Mann-Whitney U test were used to evaluate differences in parameters of DWI and 3D pCASL between low and high grade as well as between mutant and wild-type IDH1 diffuse gliomas; receiver operator characteristic (ROC) analysis was used to assess the diagnostic performance. 29777252 2018
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE rLTL was measured by qPCR in a Swedish population-based glioma case-control cohort (421 cases and 671 controls). rLTL was related to glioma risk and health parameters associated with asthma and allergy, as well as molecular events in glioma including IDH1 mutation, 1p/19q co-deletion, and EGFR amplification. 30560391 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE After stratifying by histological and tumor genetic subtype, the most significant associations of rs55705857 were with oligodendroglial tumors and gliomas with mutant IDH1 or IDH2 (odds ratio (OR)=5.1, P=1.1×10(-31) and OR=4.8, P=6.6×10(-22), respectively). 22922872 2012
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE We recently established that miRNAs are components of the IDH1 mutant-associated glioma CpG island methylator phenotype (G-CIMP) and specifically identified MIR148A as a tumor-suppressive miRNA within G-CIMP. 29545476 2018
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Sessions consisted of a total of 10 talks by international leaders in low-grade glioma research, mutant IDH1 biology and its application in glioma research, and treatment. 23373454 2013
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Nuclear exclusion of TET1 is associated with loss of 5-hydroxymethylcytosine in IDH1 wild-type gliomas. 22688054 2012
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Mutations in the isocitrate dehydrogenase-1 gene (IDH1) occur at high frequency in grade II-III gliomas (LGGs). 31240524 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE IDH1 mutation (mIDH1) occurs in 20-30% of gliomas and is a promising target for the cancer therapy. 29290542 2018
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE These findings provide insight into possible mechanisms contributing to the improved outcomes observed in patients with IDH1/2 mutant gliomas. 23115158 2013
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Marginally significant differences of the IDH1/2 mutation rate were observed between MTG and LTG patients (P = 0.058). 25867451 2015
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Although there are many changes of genes in tumour malignant progression, IDH1 R132H mutation status in glioma progression remained unclear. 28928859 2017
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE <sup>18</sup>F-DOPA uptake does not correlate with IDH mutation status and 1p/19q co-deletion in glioma. 30607877 2019