Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.380 GeneticVariation group BEFREE One of the most frequent OXPHOS defects in humans frequently associated with cardiomyopathy is cytochrome c oxidase (COX) deficiency caused by mutations in COX assembly factors such as Sco1 and Sco2. 25792727 2015
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.380 Biomarker group BEFREE 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
0.380 GeneticVariation group BEFREE However, atypical clinical features were present in some patients, including normal liver function and Leigh syndrome (subacute necrotizing encephalomyelopathy) seen in association with TRMU mutations and no cardiomyopathy with founder SCO2 mutations. 25058219 2014
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.380 GeneticVariation group BEFREE Infants with deficiency of cytochrome c oxidase (COX) due to SCO2 mutations observed so far usually demonstrated early cardiomyopathy, encephalopathy and lactic acidosis. 19879173 2010
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.380 Biomarker group CTD_human Mutations in a mitochondrial copper-binding protein (SCO2) gene were found in nine children with encephalomyopathy and/or cardiomyopathy; all of them were homozygotes or heterozygotes for 1541G>A mutation. 16326995 2006
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.380 GeneticVariation group BEFREE Mutations in a mitochondrial copper-binding protein (SCO2) gene were found in nine children with encephalomyopathy and/or cardiomyopathy; all of them were homozygotes or heterozygotes for 1541G>A mutation. 16326995 2006
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.380 GeneticVariation group BEFREE A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy. 16765077 2006
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.380 GeneticVariation group BEFREE SCO2 mutations should be screened in suspected SMA cases with normal smn mutation analysis and any one of; cardiomyopathy, lactic acidosis, or COX deficiency in muscle. 14994243 2004
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.380 GeneticVariation group BEFREE Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 11673586 2001