SCO1, synthesis of cytochrome C oxidase 1, 6341

N. diseases: 71; N. variants: 5
Disease: Liver Failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085605
Disease: Liver Failure
Liver Failure 		0.020 GeneticVariation disease BEFREE Mutations have, however, been identified in several COX assembly factors: SURF1 (Leigh Syndrome), SCO2 (hypertrophic cardiomyopathy), SCO1 (hepatic failure, ketoacidotic coma), and COX10 (encephalopathy, tubulopathy). 11579424 2001
CUI: C0085605
Disease: Liver Failure
Liver Failure 		0.020 GeneticVariation disease BEFREE Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. 11013136 2000