Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.700 GeneticVariation 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
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation 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
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.700 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
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.700 GeneticVariation UNIPROT Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 23643385

2013
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation 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
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation UNIPROT A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. 19353847

2009
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation 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
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation UNIPROT Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 14994243

2004
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation UNIPROT Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 11673586

2001
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation 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
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation UNIPROT Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 10545952

1999
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.540 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016