Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Combined D-2- and L-2-hydroxyglutaric aciduria
0.350 Biomarker disease CTD_human D-2-hydroxyglutaric aciduria (D2HGA) type II is a rare neurometabolic disorder caused by germline gain-of-function mutations in isocitrate dehydrogenase 2 (IDH2), resulting in accumulation of D-2-hydroxyglutarate (D2HG). 27469509 2016
Combined D-2- and L-2-hydroxyglutaric aciduria
0.350 Biomarker disease CTD_human A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model. 27469509 2016
Combined D-2- and L-2-hydroxyglutaric aciduria
0.350 GeneticVariation disease BEFREE In one D-2HGA case we identified mosaicism for an IDH2 mutation as the genetic cause of this disorder; the other D-2HGA case was caused by a heterozygous IDH2 mutation, while the unaffected mother was a mosaic carrier. 24049096 2014
Combined D-2- and L-2-hydroxyglutaric aciduria
0.350 GeneticVariation disease BEFREE Recently we showed that cancer-associated IDH2 germline mutations cause one variant of 2-hydroxyglutaric aciduria. 23561848 2013
Combined D-2- and L-2-hydroxyglutaric aciduria
0.350 AlteredExpression disease BEFREE 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
Combined D-2- and L-2-hydroxyglutaric aciduria
0.350 GeneticVariation disease BEFREE A report in the current issue of Science describes a germline IDH2 mutation in a subset of patients with a rare metabolic disorder--D-2-hydroxyglutaric aciduria-that is similar to mutations seen in cancer patients. 20962328 2011
Combined D-2- and L-2-hydroxyglutaric aciduria
0.350 GeneticVariation disease BEFREE IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 20847235 2010