Gene: SCO2 ×
Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.700 GeneticVariation disease UNIPROT Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. 25959673 2015
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.700 GeneticVariation disease UNIPROT Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1. 19336478 2009
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.700 GeneticVariation disease UNIPROT A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. 19353847 2009
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.700 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
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.700 GeneticVariation disease UNIPROT Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 14994243 2004
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.700 GeneticVariation disease UNIPROT Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 11673586 2001
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.700 GeneticVariation disease UNIPROT Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. 10749987 2000
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.700 GeneticVariation disease UNIPROT Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 10545952 1999