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 Biomarker disease BEFREE <b>Results</b>: We found that PD-L2 expression level was significantly upregulated in higher grade glioma and IDH wild-type glioma. 30713802 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE <i>In vitro</i> studies revealed good binding inhibition potency and binding affinity for [<sup>18</sup>F]<b>1</b> in IDH1 mutant glioma cell lines, with a half-maximal inhibitory concentration value (IC<sub>50</sub>) of 54 nM and an equilibrium dissociation constant (<i>K</i><sub>d</sub>) of 40 nM. 30034587 2018
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE <sup>1</sup> H-MRS enables non-invasive detection of 2-hydroxyglutarate (2-HG), an oncometabolite accumulating in gliomas carrying mutations in the isocitrate dehydrogenase (IDH) genes. 30457203 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE <sup>11</sup>C-METH PET parameters are significantly correlated with histological grade and IDH1 mutation status in patients with glioma. 28110346 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
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE 1p/19q co-deletion and IDH1 mutation status) in WHO grade II and III diffuse gliomas remains controversial. 28547590 2017
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 Biomarker disease BEFREE 5-Hydroxymethylcytosine (5hmC) is implicated in glioma pathogenesis; however, its role in IDH1 mutant gliomas is incompletely understood. 29428975 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 BEFREE Glioma-derived mutations in IDH: from mechanism to potential therapy. 20510884 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Gliomas with IDH1 or IDH2 mutation have better outcomes than do gliomas with wild-type IDH. 25495392 2015
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Glioma grading can be differentiated and IDH1 mutational status can be predicted using IVIM. 31014573 2019
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 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 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 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 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 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 IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype. 22343889 2012
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE IDH mutations in human glioma. 22748659 2012
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE IDH1 mutations are frequent genetic alterations in low-grade diffuse gliomas and secondary glioblastoma (GBM). 22904127 2012