SCO1, synthesis of cytochrome C oxidase 1, 6341

N. diseases: 71; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.330 GeneticVariation group BEFREE Here, we present a novel mutation in the SCO1 gene: in-frame deletion (Gly106del)with a different phenotype without encephalopathy, hepatopathy, hypotonia, or cardiac involvement. 31352446 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.330 GeneticVariation group BEFREE Here, we identified novel compound heterozygous mutations in SCO1 (p.M294V, p.Val93*) in one such patient with fatal encephalopathy. 23878101 2013
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.330 Biomarker group CTD_human COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux. 23345593 2013
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.330 GeneticVariation group BEFREE Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. 11013136 2000