Disease: Congenital lactic acidosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025276
Disease: Congenital lactic acidosis
Congenital lactic acidosis 		0.010 GeneticVariation disease BEFREE Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. 25087164 2015