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

N. diseases: 380; N. variants: 15
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2 ×
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: C3150909
Disease:
D-2-HYDROXYGLUTARIC ACIDURIA 2 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3150909
Disease:
D-2-HYDROXYGLUTARIC ACIDURIA 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121913502
rs121913502
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3150909
Disease:
D-2-HYDROXYGLUTARIC ACIDURIA 2 		T 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
dbSNP: rs121913502
rs121913502
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3150909
Disease:
D-2-HYDROXYGLUTARIC ACIDURIA 2 		0.800 GeneticVariation UNIPROT IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 20847235 2010
dbSNP: rs121913502
rs121913502
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3150909
Disease:
D-2-HYDROXYGLUTARIC ACIDURIA 2 		T 0.800 CausalMutation CLINVAR IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 20847235 2010
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3150909
Disease:
D-2-HYDROXYGLUTARIC ACIDURIA 2 		0.800 GeneticVariation UNIPROT IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 20847235 2010