L2HGDH, L-2-hydroxyglutarate dehydrogenase, 79944

N. diseases: 62; N. variants: 18
Disease: L-2-hydroxyglutaric acidemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888081
Disease: L-2-hydroxyglutaric acidemia
L-2-hydroxyglutaric acidemia 		0.500 Biomarker disease MGD A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair. 25763823 2015
CUI: C3888081
Disease: L-2-hydroxyglutaric acidemia
L-2-hydroxyglutaric acidemia 		0.500 GermlineCausalMutation disease ORPHANET An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. 20052767 2010