Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711369
Disease: Succinate-Coa Ligase Deficiency
Succinate-Coa Ligase Deficiency
0.020 GeneticVariation disease BEFREE Succinate-CoA ligase deficiency due to SUCLG1 mutations is a rare cause of methylmalonic aciduria. 26028457 2016
CUI: C3711369
Disease: Succinate-Coa Ligase Deficiency
Succinate-Coa Ligase Deficiency
0.020 GeneticVariation disease BEFREE A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. 19526370 2010