Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51204
Gene Symbol: TACO1
TACO1 		0.500 Biomarker disease CLINGEN Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice. 27319982 2016
Entrez Id: 51204
Gene Symbol: TACO1
TACO1 		0.500 Biomarker disease CLINGEN Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. 25044680 2014
Entrez Id: 51204
Gene Symbol: TACO1
TACO1 		0.500 Biomarker disease CLINGEN Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089 2009
Entrez Id: 51204
Gene Symbol: TACO1
TACO1 		0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.400 Biomarker disease CLINGEN SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences. 29933018 2018
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.400 Biomarker disease CLINGEN SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype. 29601977 2018
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.400 Biomarker disease CLINGEN Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633 2016
Entrez Id: 1355
Gene Symbol: COX15
COX15 		0.400 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.400 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Entrez Id: 1355
Gene Symbol: COX15
COX15 		0.400 Biomarker disease CLINGEN Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models. 26039449 2015
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.400 Biomarker disease CLINGEN Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencing. 25164807 2014
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.400 Biomarker disease CLINGEN COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood. 24100867 2013
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.400 Biomarker disease CLINGEN SURF1-associated Leigh syndrome: a case series and novel mutations. 22488715 2012
Entrez Id: 1355
Gene Symbol: COX15
COX15 		0.400 Biomarker disease CLINGEN In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis. 21723506 2011
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.400 Biomarker disease CLINGEN Cytochrome c oxidase deficiency in neurons decreases both oxidative stress and amyloid formation in a mouse model of Alzheimer's disease. 17715058 2007
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.400 Biomarker disease CLINGEN Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1. 14607829 2004
Entrez Id: 1355
Gene Symbol: COX15
COX15 		0.400 Biomarker disease CLINGEN Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. 15235026 2004
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.400 Biomarker disease CLINGEN Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. 15455402 2004
Entrez Id: 1355
Gene Symbol: COX15
COX15 		0.400 Biomarker disease CLINGEN Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. 12474143 2003
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.400 Biomarker disease CLINGEN Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. 12928484 2003
Entrez Id: 1355
Gene Symbol: COX15
COX15 		0.400 Biomarker disease CLINGEN Mitochondrial ferredoxin is required for heme A synthesis in Saccharomyces cerevisiae. 11788607 2002
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.400 Biomarker disease CLINGEN Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. 10556302 1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.400 Biomarker disease CLINGEN Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. 10443880 1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.400 Biomarker disease CLINGEN Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. 9837813 1998
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.400 Biomarker disease CLINGEN SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 9843204 1998