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
0.220 GeneticVariation disease BEFREE Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. 26475597 2016
CUI: C3711369
Disease: Succinate-Coa Ligase Deficiency
Succinate-Coa Ligase Deficiency
0.220 Biomarker disease MGD Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion. 24271779 2014
CUI: C3711369
Disease: Succinate-Coa Ligase Deficiency
Succinate-Coa Ligase Deficiency
0.220 GeneticVariation disease BEFREE Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. 19526370 2010