Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937598
rs28937598
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
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
0.800 GeneticVariation UNIPROT A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. 19353847

2009

dbSNP: rs28937598
rs28937598
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
0.800 GeneticVariation UNIPROT Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 14994243

2004

dbSNP: rs28937598
rs28937598
0.800 GeneticVariation UNIPROT Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 11673586

2001

dbSNP: rs28937598
rs28937598
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
0.800 GeneticVariation UNIPROT Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 10545952

1999

dbSNP: rs28937598
rs28937598
A 0.800 CausalMutation CLINVAR