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: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE IDH1 mutations are early events in the development of IDH-mutant gliomas and leukemias and are associated with various regulation of molecular process. 31208797 2019
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE These findings supported initiation of the ongoing clinical trials of AG-221 in patients with <i>IDH2</i> mutation-positive advanced hematologic malignancies.<b>Significance:</b> Mutations in <i>IDH1/2</i> are identified in approximately 20% of patients with AML and contribute to leukemia via a block in hematopoietic cell differentiation. 28193778 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE We extensively validate a SL interaction identified by MiSL between the IDH1 mutation and ACACA in leukaemia using gene targeting and patient-derived xenografts. 28561042 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Genetic gain-of-function mutations in IDH1 and IDH2 confer a neomorphic activity that allow reduction of α -KG to (R)-2- hydroxyglutarate, the accumulation of which results in the development of cancers like low grade gliomas and leukemia. 27292784 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE We show that R-2HG, but not S-2HG or αKG, is an oncometabolite in vivo that does not require the mutant IDH1 protein to induce hyperleukocytosis and to accelerate the onset of murine and human leukemia. 27063596 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a subset of benign and malignant cartilage tumors, gliomas and leukaemias. 25895133 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Genetic dissection of leukemia-associated IDH1 and IDH2 mutants and D-2-hydroxyglutarate in Drosophila. 25398939 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Interestingly, somatic IDH1 and IDH2 mutations, and loss-of-function mutations in ten-eleven translocation (TET) methylcytosine dioxygenase-2 (TET2) associated with a hypermethylation phenotype, are also found in multiple enchondromas of patients with Ollier disease and Mafucci syndrome, and leukemia, respectively. 23801749 2013
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Here we discuss the relevance of IDH mutations to leukemia pathogenesis, therapy, and outcome and how mutations in IDH1 and IDH2 affect the leukemia epigenome, hematopoietic differentiation, and clinical outcome. 23999441 2013
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE SRSF2 mutations were associated with shortened overall (P < .01) and leukemia-free (P < .01) survival; the adverse effect on survival was independent of DIPSS-plus (P = .01; HR = 1.9; 95% CI, 1.1-3.0) and IDH mutations (P < .01; HR = 2.3; 95% CI, 1.4-3.8). 22968464 2012
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE IDH1 and IDH2, which catalyse the interconversion of isocitrate and 2-OG, are frequently mutated in human brain tumours and leukaemias. 22343896 2012
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Miscoding mutations of the TET2 gene, which encodes the α-ketoglutarate-dependent enzyme that catalyses the conversion of 5-methylcytosine to 5-hydroxymethylcytosine, thus producing DNA demethylation, have been detected in 10-25% of acute myeloid leukaemias lacking IDH1/2 mutations. 21690245 2011
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Somatic mutations at residue R132 of isocitrate dehydrogenase 1 (IDH1) were recently discovered in gliomas and leukaemia at a high frequency. 20702649 2010