L2HGDH, L-2-hydroxyglutarate dehydrogenase, 79944

N. diseases: 62; N. variants: 18
Disease: Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability. 18780161 2008
CUI: C0013421
Disease: Dystonia
Dystonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND