SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Disease: Acidosis, Lactic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 GeneticVariation phenotype BEFREE Infants with deficiency of cytochrome c oxidase (COX) due to SCO2 mutations observed so far usually demonstrated early cardiomyopathy, encephalopathy and lactic acidosis. 19879173 2010
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 GeneticVariation phenotype BEFREE Progressive cardiomyopathy, neuropathy and lactic acidosis are presented by infants with SCO2 gene mutations. 19353431 2009
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 Biomarker phenotype HPO