Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2
0.610 Biomarker disease BEFREE Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2. 29987523 2018
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2
0.610 CausalMutation disease 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
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2
0.610 CausalMutation disease CLINVAR IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 20847235 2010
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2
0.610 GeneticVariation disease CLINVAR
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2
0.610 GeneticVariation disease UNIPROT IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 20847235 2010
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2
0.610 Biomarker disease GENOMICS_ENGLAND Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing. 24049096 2013
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2
0.610 Biomarker disease GENOMICS_ENGLAND Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing. 24049096 2013
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2
0.610 Biomarker disease GENOMICS_ENGLAND IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 20847235 2010
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2
0.610 Biomarker disease GENOMICS_ENGLAND Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011