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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation disease BEFREE IDH1 mutations are closely related to the development and progression of various human cancers, such as glioblastoma, sarcoma, and acute myeloid leukemia. 31836442 2020
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 Biomarker disease BEFREE Advances in the understanding of the complex mechanisms of AML leukemogenesis have led to the development and recent US Food and Drug Administration (FDA) approval of several targeted therapies: midostaurin and gilteritinib targeting activated FLT3, and ivosidenib and enasidenib targeting mutated IDH1/2. 31848884 2020
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation disease BEFREE Mutations in isocitrate dehydrogenase 1 (IDH1) are found in 6% of AML patients. 31586149 2020
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE IDH2 mutations were associated with better outcomes compared with IDH wild-type gliomas (P < 0.05). 31833906 2019
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 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 <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 Recent DNA methylation analyses revealed a small group of IDH mutant diffuse gliomas exhibiting decreased DNA hypermethylation resulting in substantial unfavorable prognosis comparable to glioblastoma. 30937703 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 AlteredExpression disease BEFREE In this study, we investigated the relationship between SWI features and glioma grades, and the expression of key molecular markers isocitrate dehydrogenase 1 (IDH1), O-6-methylguanine-DNA methyltransferase (MGMT), and 1p19q. 31745161 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Additionally, 5-aza enhances the therapeutic effect of the DNA damaging agent TMZ in both subcutaneous and orthotopic PDX models of IDH1 R132H mutant glioma. 30184215 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE An analysis of 2589 patient samples showed that CLEC5A expression is higher in (1) glioblastoma than in lower-grade glioma and nontumor tissue, (2) in the mesenchymal subtype than in other subtypes, and (3) in IDH1-wild type glioblastoma than in IDH1-mutated glioblastoma. 31591460 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE For instance, mutations in the <i>isocitrate dehydrogenase 1 (IDH1)</i> gene, which occurs in a subgroup of glioma, correlate with risk of VTE, with low incidence in patients with presence of an <i>IDH1</i> mutation compared with those with <i>IDH1</i> wild-type status. 31041803 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE In this study, using our mouse model and primary patient-derived glioma cultures with IDH1 mutations, we investigated the function of IDH1<sup>R132H</sup> in the context of TP53 and ATRX loss. 30760578 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE There is variability in survival within IDH mutant gliomas determined by chromosomal events. 31134296 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Using the combination, the diagnostic sensitivity and specificity for IDH1 mutated gliomas were 93.3% and 88.9%, respectively. 30414094 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Increasing researchers have been involved in the study of glioma cell metabolism reprogramming since the significance of IDH1 was confirmed in glioma. 30978442 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE MATH values were increased in patients with glioma with the wild-type isocitrate dehydrogenase (NADP<sup>(+)</sup>) (IDH)1/2 (IDH-wt) gene (P=0.001) and glioblastoma (GBM; P=0.001). 31788085 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 AlteredExpression disease BEFREE Podoplanin Expression and IDH-Wildtype Status Predict Venous Thromboembolism in Patients with High-Grade Gliomas in the Early Postoperative Period. 31100523 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Fifty-seven LGG patients with IDH1(+) (n = 36 with 19 ATRX(-) and 17 ATRX(+) patients) and IDH1(-) (n = 21). 30194745 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE One hundred and two individuals with IDH1/2 mutant or 1p/19q co-deleted glioma were genotyped and linked to the UPDB. 30823903 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Multivariate analysis incorporating tumor status based on the presence of <i>IDH</i> mutations, <i>TERT</i> promoter mutations, and 1p/19q codeletion showed that in lower-grade gliomas, high NLR predicted poorer survival for the triple-negative, IDH mutation only, TERT mutation only, and IDH and TERT mutation groups. 31444316 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 AlteredExpression disease BEFREE In contrast, IDH1 wt expression is upregulated in all glioma grades (concentration >0.1) compared to control brain tissue (0.007 ± 0.0016). 30943868 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE IDH Inhibitors Target Common Glioma Mutation. 31217295 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE We hypothesize that the primary cell pool isolated from LGG tumor contains a heterogeneous population consisting tumor cells at various stages of tumor progression including cells with early genetic lesions if any prior to acquisition of IDH1 mutation. 30460631 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Therefore, MET uptake for glioma grading was more consistent for IDH1-wildtype tumours than for IDH1-mutant tumours. 31102001 2019