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: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma. 27460417 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 Biomarker disease BEFREE These findings suggest that FilGAP, as well as IDH1 status, may be useful for predicting the behavior of astrocytomas. 27790861 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE ATRX loss in astrocytomas was also strongly associated with IDH1/2 and H3F3A mutation (p < 0.0001). 27311324 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 Biomarker disease BEFREE Mutations of isocitrate dehydrogenase 1 (IDH1) or 2 (IDH2) genes have been identified as early molecular events in the development of astrocytomas and oligodendrogliomas. 27780605 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE No IDH1-R132H mutation was detected in 2 of 2 (0%) astrocytomas by immunohistochemistry. 26990854 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE The prognostic impact of PROX1 in IDH-mutant 1p19q non-codeleted high-grade astrocytomas, as well as the negative findings in primary glioblastomas, was corroborated by gene expression data extracted from the Cancer Genome Atlas. 27626492 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE IDH mutations were observed in 63.2% of astrocytomas, 73.3% of diffuse oligodendrogliomas and 12.90% of glioblastomas. 27268645 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 AlteredExpression disease BEFREE ATRX loss in adult supratentorial diffuse astrocytomas correlates with p53 over expression and IDH1 mutation and predicts better outcome in p53 accumulated patients. 26395639 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 AlteredExpression disease BEFREE The aim of this study is to investigate the CXCR7 mRNA expression in diffuse astrocytomas tissues and to evaluate its interactions with CXCR4 and HIF1α expression and IDH1 mutation. 24970694 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 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: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 Biomarker disease BEFREE Adult IDH wild type astrocytomas biologically and clinically resolve into other tumor entities. 26087904 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 Biomarker disease BEFREE We raise the question whether IDH-wild type high grade astrocytomas without microvascular proliferation or necrosis might best be classified as GBM, even if they lack the histologic hallmarks as required in the current WHO classification. 25943888 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE This data poses a substantial challenge for the current practice of astrocytoma grading and risk stratification and is likely to have far-reaching consequences on the management of patients with IDH-mutant astrocytoma. 25962792 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE LOX expression and functional analysis in astrocytomas and impact of IDH1 mutation. 25790191 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE We analyzed markers, including IDH mutation(IDHmut), 1p19q codeletion(1p19qcodel), ATRX expression loss(ATRX loss) and p53 overexpression, and outcomes in 159 patients with WHO grade II oligodendroglioma, oligoastrocytoma, and astrocytoma (2003-2012). 26210286 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Those astrocytomas without IDH mutation tend to have a distinct genotype and a poor prognosis comparable to that of glioblastomas. 25975377 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE In patients with astrocytoma, the TERT promoter mutations only associated with poor survival (P < 0.0001); IDH mutations and 1p/19q deletions associated with increased survival (P = 0.0004). 25797251 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Mutations in IDH1 are frequent in grades II and III astrocytomas, oligodendrogliomas, and oligoastrocytomas, as well as secondary GBMs. 24445767 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE These findings suggest that CDKN2A testing may provide further clinical aid in lower-grade glioma substratification beyond IDH mutation and 1p19q codeletion status, particularly in IDH/TP53 mutated astrocytomas. 25853694 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE IHC detected the IDH1 mutation in 72% (13/18) anaplastic astrocytomas and 30% (3/10) astrocytomas; however, it failed to detect the mutation in 258 thyroid, 11 renal cell, 10 ovarian, 18 endometrial, 20 breast, 25 colorectal, 22 non-small cell lung carcinoma, 25 melanomas, and 8 thyroid follicular adenomas. 23235339 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Several investigations have searched a correlation between the BRAF gene fusions alterations and mutations at IDH1 and IDH2 genes in low grade pediatric astrocytomas. 24532263 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE In non 1p/19q codeleted LGGs, we demonstrated that (i) 11p loss is associated with astrocytoma phenotype and has an independent negative prognostic value, and (ii) 19q loss diminished the favorable prognostic value of IDH mutation. 24335697 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE The survival benefit associated with surgical resection differs based on IDH1 genotype in malignant astrocytic gliomas. 24305719 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE The maximal fractional anisotropy and ratio of maximal fractional anisotropy values had statistical significance between patients with IDH1 R132H mutation and those without mutation in astrogliomas of grades II and III. 24557705 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE To study the putative expression patterns and clinical significance of Hsp27, we assessed the associations between Hsp27, R132H mutation of Isocitrate dehydrogenase1 (IDH1-R132H), Hypoxia-inducible factor subunit alpha (HIF-1 alpha), Carbonic anhydrase IX (CA IX), and patient prognosis in astrocytic gliomas. 24599602 2014