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: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 GeneticVariation disease BEFREE Overexpression of known pathogenic variants in SCO1 fibroblasts showed that p.G132S exacerbated the COX deficiency, whereas COX activity was partially or fully restored by p.P174L and p.M294V, respectively. 23878101 2013
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 GeneticVariation disease BEFREE Mutations in both SCO1 and SCO2 are associated with distinct clinical phenotypes as well as tissue-specific COX deficiency, but the reason for such tissue specificity is unknown. 20864674 2010
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 GeneticVariation disease UNIPROT Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1. 19336478 2009
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 Biomarker disease GENOMICS_ENGLAND A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. 19353847 2009
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 GeneticVariation disease UNIPROT Human Sco1 functional studies and pathological implications of the P174L mutant. 17182746 2007
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 GeneticVariation disease UNIPROT The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. 17189203 2007
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 Biomarker disease GENOMICS_ENGLAND Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency. 15023375 2004
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 GeneticVariation disease BEFREE Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. 11013136 2000
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 Biomarker disease BEFREE We conclude that neither SCO1 nor COX17 are common causes of COX deficiency disorders. 11027508 2000
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 GeneticVariation disease UNIPROT Studying a large family with multiple cases of neonatal ketoacidotic comas and isolated COX deficiency, we have mapped the disease locus to chromosome 17p13.1, in a region encompassing two candidate genes involved in COX assembly-namely, SCO1 and COX10. 11013136 2000
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 Biomarker disease MGD
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 Biomarker disease GENOMICS_ENGLAND
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 Biomarker disease CTD_human
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 CausalMutation disease CLINVAR
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.520 GeneticVariation group BEFREE Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene. 31352446 2019
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.520 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.520 Biomarker group BEFREE Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease. 20864674 2010
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.520 Biomarker group CTD_human Human Sco1 functional studies and pathological implications of the P174L mutant. 17182746 2007
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.520 Biomarker group GENOMICS_ENGLAND
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
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.320 GeneticVariation group BEFREE The patient lacked the severe hepatopathy (p.P174L) or hypertrophic cardiomyopathy (p.G132S) observed in previously reported SCO1 cases, so we investigated whether allele-specific defects in SCO1 function might underlie the genotype-phenotype relationships. 23878101 2013
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.320 Biomarker group CTD_human COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux. 23345593 2013