rs121913502, IDH2

N. diseases: 19
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
D-2-HYDROXYGLUTARIC ACIDURIA 1
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
0.010 GeneticVariation BEFREE To confirm the IDH2(wt/R140Q) gain-of-function in D-2-HGA type II, and to evaluate potential therapeutic strategies, we developed a specific and sensitive IDH2(wt/R140Q) enzyme assay in lymphoblasts. 21889589 2011