rs121434362, D2HGDH

N. diseases: 3
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
0.800 GeneticVariation UNIPROT Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. 16081310 2006
D-2-HYDROXYGLUTARIC ACIDURIA 1
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
0.800 GeneticVariation UNIPROT Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. 15609246 2005
D-2-HYDROXYGLUTARIC ACIDURIA 1
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
0.800 GeneticVariation UNIPROT Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. 16037974 2005
D-2-HYDROXYGLUTARIC ACIDURIA 1
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
0.800 CausalMutation CLINVAR
Combined D-2- and L-2-hydroxyglutaric aciduria
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
0.010 GeneticVariation BEFREE Here, we report two novel pathogenic mutations in this gene in one patient with a mild presentation and two asymptomatic siblings with D-2-hydroxyglutaric aciduria from two unrelated consanguineous Palestinian families: a splice error (IVS4-2A-->G) and a missense mutation (c.1315A-->G;p.Asn439Asp). 16037974 2005
D-2-hydroxyglutaric aciduria
CUI: C1833429
Disease: D-2-hydroxyglutaric aciduria
0.010 GeneticVariation BEFREE Here, we report two novel pathogenic mutations in this gene in one patient with a mild presentation and two asymptomatic siblings with D-2-hydroxyglutaric aciduria from two unrelated consanguineous Palestinian families: a splice error (IVS4-2A-->G) and a missense mutation (c.1315A-->G;p.Asn439Asp). 16037974 2005