SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. 20159436 2010
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. 19837698 2010
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN Phenotypic consequences of a novel SCO2 gene mutation. 18924171 2008
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1. 16083427 2005
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase. 15229189 2004
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 11673586 2001
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 10545952 1999