IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
Disease: Acute Erythroblastic Leukemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913502
rs121913502
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0023440
Disease:
Acute Erythroblastic Leukemia 		0.020 GeneticVariation BEFREE Recent studies revealed that allosteric inhibitors could selectively inhibit IDH2/R140Q and induce differentiation of TF-1 erythroleukemia and primary human AML cells. 29184081 2017
dbSNP: rs121913502
rs121913502
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0023440
Disease:
Acute Erythroblastic Leukemia 		0.020 GeneticVariation BEFREE To further understand the role of IDH mutations in cancer, we conducted mechanistic studies in the TF-1 IDH2 R140Q erythroleukemia model system and found that IDH2 mutant expression caused both histone and genomic DNA methylation changes that can be reversed when IDH2 mutant activity is inhibited. 25398940 2015