Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.300 GermlineCausalMutation disease ORPHANET Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis. 23878101 2013
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.300 GermlineCausalMutation disease ORPHANET Loss of function of Sco1 and its interaction with cytochrome c oxidase. 19295170 2009
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.300 GermlineCausalMutation disease ORPHANET Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. 11013136 2000