Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3811915
Disease: SUCLA2
SUCLA2
0.020 GeneticVariation disease BEFREE Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. 27484306 2016
CUI: C3811915
Disease: SUCLA2
SUCLA2
0.020 GeneticVariation disease BEFREE Succinyl-CoA ligase deficiency due to an SUCLG1 mutation is a new cause for mitochondrial hepatoencephalomyopathy. 20453710 2010