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 UNIPROT
CUI: C0017638
Disease: Glioma
Glioma
0.700 CausalMutation disease CGI
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE The very high frequency of IDH1 mutations in WHO grade II astrocytic and oligodendroglial gliomas suggests a role in early tumor development. 18985363 2008
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 Biomarker disease BEFREE We analyzed the genomic region spanning wild-type R132 of IDH1 by direct sequencing in 125 glial tumors. 19765000 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE IDH1 mutations are present in the majority of common adult gliomas but rare in primary glioblastomas. 19435942 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE IDH1 and IDH2 mutations define a specific subtype of gliomas and may have significant utility for the diagnosis, prognosis, and treatment of patients with these tumors. 19996293 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE The assay detected IDH mutations in biopsy material containing mostly glioma and in concomitant near-miss stereotactic core biopsies that were otherwise equivocal for the presence of glioma by light microscopy. 19915484 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE The aim of this study was to see whether the IDH1 codon 132 mutations occur in other human cancers besides glial tumors. 19378339 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE 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 We report on an inverse association of IDH1 and IDH2 mutations in these gliomas and a non-random distribution of the mutation types within the tumor entities. 19554337 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease LHGDN The enzymatic activity of the proteins that were produced from normal and mutant IDH1 and IDH2 genes was determined in cultured glioma cells that were transfected with these genes. 19228619 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE IDH1 codon 132 sequencing was performed in a series of 404 patients with glioma (100 grade 2, 121 grade 3, and 183 grade 4 gliomas) and correlated with histology, genomic profile, methylguanyl methyltransferase (MGMT) promoter methylation status, and outcome. 19636000 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease CTD_human IDH1 mutations are a novel positive prognostic factor in anaplastic gliomas, with a favorable impact stronger than that of 1p/19q codeletion or MGMT promoter methylation. 19901110 2009
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 A glioma study revealed that IDH1 mutations cause a gain-of-function, resulting in the production and accumulation of 2-hydroxyglutarate (2-HG). 20142433 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Our data also confirm the prognostic impact of IDH1/IDH2 mutation in gliomas whatever grade considered: patients harboring mutations of IDH1/IDH2 have an improved median overall survival. 20427748 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Our results were validated on an independent sample cohort, indicating that the IDH1 mutation spectrum may aid glioma subtype classification. 20077503 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Absence of IDH mutation identifies a novel radiologic and molecular subtype of WHO grade II gliomas with dismal prognosis. 21080178 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Mutations of both the IDH1 and IDH2 (isocitratedehydrogenase enzyme 1 and 2) genes have recently been described in cases of human glioma. 20847279 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE We sequenced the isocitrate dehydrogenase 1 gene (IDH1) at codon 132 in 382 patients with anaplastic astrocytoma and glioblastoma from the NOA-04 trial and from a prospective translational cohort study of the German Glioma Network. 21088844 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Somatic mutations in the isocitrate dehydrogenase 1 gene (IDH1) occur at high frequency in gliomas and seem to be a prognostic factor for survival in glioblastoma patients. 20127344 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE 1p/19q codeletion and IDH1 mutations are also useful to support and extend the histological classification of gliomas since they are strongly linked to oligodendroglial morphology and grade II/III gliomas, as opposed to glioblastoma, respectively. 20862485 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Our results suggest that in pediatric high-grade gliomas: (i) histological grading does not have strong prognostic significance, (ii) YKL-40 overexpression is less frequent than adult high-grade gliomas and does not correlate with a more aggressive behavior, (iii) TP53 mutations but not p53 expression may correlate with a more aggressive behavior, and (iv) IDH1 mutations are absent. 20174854 2010