Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149977726
rs149977726
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.800 GeneticVariation UNIPROT Phenotypic variability in a Spanish family with MNGIE. 12177387

2002
dbSNP: rs149977726
rs149977726
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.800 GeneticVariation UNIPROT Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs28937598
rs28937598
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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: rs28937598
rs28937598
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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: rs28937598
rs28937598
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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: rs28937598
rs28937598
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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: rs28937868
rs28937868
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT

dbSNP: rs74315511
rs74315511
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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
SCO2 ; NCAPH2
CUI: C1837148
Disease: MYOPIA 6 (disorder)
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
SCO2 ; NCAPH2
CUI: C1837148
Disease: MYOPIA 6 (disorder)
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
SCO2 ; NCAPH2
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 23643385

2013
dbSNP: rs74315511
rs74315511
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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: rs80358232
rs80358232
SCO2 ; NCAPH2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 GeneticVariation UNIPROT

dbSNP: rs1352878283
rs1352878283
SCO2 ; NCAPH2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016
dbSNP: rs145100473
rs145100473
SCO2 ; NCAPH2
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.700 GeneticVariation UNIPROT