Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Phenotypic consequences of a novel SCO2 gene mutation. 18924171

2008
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 11673586

2001
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 10545952

1999