IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913502
rs121913502
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
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
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3152055
Disease:
D-2-HYDROXYGLUTARIC ACIDURIA 1 		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