rs121913502, IDH2

N. diseases: 19
Disease: Childhood Leukemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.020 GeneticVariation BEFREE Idh-R163Q, which is homologous to the common leukemia-associated IDH2-R140Q mutant, resulted in moderately elevated D-2HG and milder phenotypes. 25398939 2015
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.020 GeneticVariation BEFREE Conditional deletion of IDH2/R140Q blocked 2-HG production and maintenance of leukemia stem cells, resulting in survival of the AML mice. 25795706 2015