SCO1, synthesis of cytochrome C oxidase 1, 6341

N. diseases: 71; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894630
rs104894630
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
0.800 GeneticVariation UNIPROT Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1. 19336478 2009
dbSNP: rs104894630
rs104894630
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
0.800 GeneticVariation UNIPROT The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. 17189203 2007
dbSNP: rs104894630
rs104894630
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
0.800 GeneticVariation UNIPROT Human Sco1 functional studies and pathological implications of the P174L mutant. 17182746 2007
dbSNP: rs104894630
rs104894630
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
0.800 GeneticVariation UNIPROT Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. 11013136 2000
dbSNP: rs104894630
rs104894630
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
A 0.800 CausalMutation CLINVAR
dbSNP: rs587777220
rs587777220
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
0.710 GeneticVariation 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
dbSNP: rs587777220
rs587777220
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
T 0.710 CausalMutation CLINVAR
dbSNP: rs2520166
rs2520166
Entrez Id: 6341;56985
Gene Symbol: SCO1;ADPRM
SCO1;ADPRM
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs587776629
rs587776629
Entrez Id: 6341;56985
Gene Symbol: SCO1;ADPRM
SCO1;ADPRM
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs587777220
rs587777220
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.020 GeneticVariation 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
dbSNP: rs587777220
rs587777220
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0023895
Disease:
Liver diseases
0.020 GeneticVariation 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
dbSNP: rs587777220
rs587777220
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C4551472
Disease:
Hypertrophic obstructive cardiomyopathy
0.020 GeneticVariation 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
dbSNP: rs587777220
rs587777220
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.020 GeneticVariation BEFREE Here, we analyzed the impact on CcO assembly and tissue copper levels of a G132S mutation in the juxtamembrane region of SCO1 metallochaperone associated with early onset hypertrophic cardiomyopathy, encephalopathy, hypotonia, and hepatopathy, assessed the total copper content of various SURF1 and SCO2-deficient tissues, and investigated the possible physical association between CcO and Sco1. 19295170 2009
dbSNP: rs587777220
rs587777220
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0023895
Disease:
Liver diseases
0.020 GeneticVariation BEFREE Here, we analyzed the impact on CcO assembly and tissue copper levels of a G132S mutation in the juxtamembrane region of SCO1 metallochaperone associated with early onset hypertrophic cardiomyopathy, encephalopathy, hypotonia, and hepatopathy, assessed the total copper content of various SURF1 and SCO2-deficient tissues, and investigated the possible physical association between CcO and Sco1. 19295170 2009
dbSNP: rs587777220
rs587777220
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C4551472
Disease:
Hypertrophic obstructive cardiomyopathy
0.020 GeneticVariation BEFREE Here, we analyzed the impact on CcO assembly and tissue copper levels of a G132S mutation in the juxtamembrane region of SCO1 metallochaperone associated with early onset hypertrophic cardiomyopathy, encephalopathy, hypotonia, and hepatopathy, assessed the total copper content of various SURF1 and SCO2-deficient tissues, and investigated the possible physical association between CcO and Sco1. 19295170 2009
dbSNP: rs104894630
rs104894630
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.010 GeneticVariation 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
dbSNP: rs104894630
rs104894630
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0023895
Disease:
Liver diseases
0.010 GeneticVariation 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
dbSNP: rs104894630
rs104894630
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C4551472
Disease:
Hypertrophic obstructive cardiomyopathy
0.010 GeneticVariation 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
dbSNP: rs760292725
rs760292725
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0085584
Disease:
Encephalopathies
0.010 GeneticVariation BEFREE Here, we identified novel compound heterozygous mutations in SCO1 (p.M294V, p.Val93*) in one such patient with fatal encephalopathy. 23878101 2013