Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.540 Biomarker CLINGEN A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. 20159436

2010
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.540 Biomarker CLINGEN Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. 19837698

2010
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.540 Biomarker CLINGEN Phenotypic consequences of a novel SCO2 gene mutation. 18924171

2008
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.540 Biomarker CLINGEN Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1. 16083427

2005
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.540 Biomarker CLINGEN Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase. 15229189

2004
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.540 Biomarker CLINGEN Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 11673586

2001
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.540 Biomarker CLINGEN The clinical phenotype caused by mutations in human SCO2 differs from that caused by mutations in SURF1, the only other known COX assembly gene associated with a human disease, Leigh syndrome. 10545952

1999