SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937598
rs28937598
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. 25959673 2015
dbSNP: rs74315511
rs74315511
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. 25959673 2015
dbSNP: rs74315511
rs74315511
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1837148
Disease:
MYOPIA 6 (disorder) 		0.800 GeneticVariation UNIPROT Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. 25959673 2015
dbSNP: rs74315511
rs74315511
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1837148
Disease:
MYOPIA 6 (disorder) 		0.800 GeneticVariation UNIPROT Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. 25525168 2014
dbSNP: rs74315511
rs74315511
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1837148
Disease:
MYOPIA 6 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 23643385 2013
dbSNP: rs28937598
rs28937598
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. 19353847 2009
dbSNP: rs28937598
rs28937598
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to 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: rs74315511
rs74315511
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. 19353847 2009
dbSNP: rs74315511
rs74315511
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to 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: rs28937598
rs28937598
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to 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: rs74315511
rs74315511
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to 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: rs28937598
rs28937598
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 14994243 2004
dbSNP: rs74315511
rs74315511
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 14994243 2004
dbSNP: rs149977726
rs149977726
Entrez Id: 1890;9997
Gene Symbol: TYMP;SCO2
TYMP;SCO2
CUI: C4551995
Disease:
Mitochondrial DNA Depletion Syndrome 1 		0.800 GeneticVariation UNIPROT Phenotypic variability in a Spanish family with MNGIE. 12177387 2002
dbSNP: rs28937598
rs28937598
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 11673586 2001
dbSNP: rs74315511
rs74315511
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 11673586 2001
dbSNP: rs28937598
rs28937598
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. 10749987 2000
dbSNP: rs74315511
rs74315511
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. 10749987 2000
dbSNP: rs149977726
rs149977726
Entrez Id: 1890;9997
Gene Symbol: TYMP;SCO2
TYMP;SCO2
CUI: C4551995
Disease:
Mitochondrial DNA Depletion Syndrome 1 		C 0.800 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029 1999
dbSNP: rs149977726
rs149977726
Entrez Id: 1890;9997
Gene Symbol: TYMP;SCO2
TYMP;SCO2
CUI: C4551995
Disease:
Mitochondrial DNA Depletion Syndrome 1 		0.800 GeneticVariation UNIPROT Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029 1999
dbSNP: rs28937598
rs28937598
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 10545952 1999
dbSNP: rs74315511
rs74315511
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 10545952 1999
dbSNP: rs28937598
rs28937598
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28937868
rs28937868
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT
dbSNP: rs28937868
rs28937868
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1858424
Disease:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		T 0.800 CausalMutation CLINVAR