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: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.050 GeneticVariation disease BEFREE Many epigenetic changes underlying MDS have been identified, such as a mutation in the isocitrate dehydrogenase 1 (IDH1) gene, which causes DNA hypermethylation and alteration of a number of genes that lead to leukemogenesis. 29599340 2018
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.050 GeneticVariation disease BEFREE D2HG has been shown to promote leukemogenesis even in the absence of mutated IDH, but the prognostic significance of pretreatment serum D2HG levels in patients with IDH-mutated AML is unclear. 26582645 2016
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.050 Biomarker disease BEFREE Mutant IDH1 promotes leukemogenesis in vivo and can be specifically targeted in human AML. 23954893 2013
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.050 GeneticVariation disease BEFREE Elucidation of the role of IDH mutations and (R)-2HG in leukemogenesis has been hampered by a lack of appropriate cell-based models. 23393090 2013
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.050 GeneticVariation disease BEFREE IDH mutations may be a novel genetic marker in cytogenetically normal AML and may cooperate in leukemogenesis. 22494415 2012