rs121913502, IDH2

N. diseases: 19
Disease: Acute Erythroblastic Leukemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acute Erythroblastic Leukemia
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
Acute Erythroblastic Leukemia
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