Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
D-2-hydroxyglutaric aciduria
CUI: C1833429
Disease: D-2-hydroxyglutaric aciduria
0.010 GeneticVariation BEFREE The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II. 21889589 2011