rs121913502, IDH2

N. diseases: 19
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
D-2-HYDROXYGLUTARIC ACIDURIA 2
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
0.800 CausalMutation CLINVAR A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies. 21889589 2011
D-2-HYDROXYGLUTARIC ACIDURIA 2
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
0.800 GeneticVariation UNIPROT IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 20847235 2010
D-2-HYDROXYGLUTARIC ACIDURIA 2
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
0.800 CausalMutation CLINVAR IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 20847235 2010
D-2-HYDROXYGLUTARIC ACIDURIA 2
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
0.800 GeneticVariation CLINVAR