SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.540 GeneticVariation disease UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.540 GeneticVariation disease 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.540 Biomarker disease CLINGEN A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. 20159436 2010
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.540 Biomarker disease CLINGEN Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. 19837698 2010
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.540 Biomarker disease CLINGEN Phenotypic consequences of a novel SCO2 gene mutation. 18924171 2008
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.540 Biomarker disease CLINGEN Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1. 16083427 2005
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.540 Biomarker disease CLINGEN Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase. 15229189 2004
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.540 GeneticVariation disease BEFREE We report two novel pathogenic SURF1 mutations in a patient with Leigh syndrome and one novel SCO2 mutation in a patient with hypertrophic cardiomyopathy. 12538779 2003
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.540 Biomarker disease CLINGEN Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 11673586 2001
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.540 Biomarker disease BEFREE Mutations have, however, been identified in several COX assembly factors: SURF1 (Leigh Syndrome), SCO2 (hypertrophic cardiomyopathy), SCO1 (hepatic failure, ketoacidotic coma), and COX10 (encephalopathy, tubulopathy). 11579424 2001
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.540 GeneticVariation disease BEFREE All of the patients with mutations in SURF-1 had Leigh syndrome, whereas the 3 patients with SCO2 mutations had a combination of encephalopathy and hypertrophic cardiomyopathy, and the neuropathology did not show the typical features of Leigh syndrome. 10805329 2000
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.540 Biomarker disease 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