Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51204
Gene Symbol: TACO1
TACO1
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.500 Biomarker CLINGEN Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice. 27319982

2016
Entrez Id: 51204
Gene Symbol: TACO1
TACO1
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.500 Biomarker 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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.500 Biomarker 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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker 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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker CLINGEN SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype. 29601977

2018
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker 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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015
Entrez Id: 1352
Gene Symbol: COX10
COX10
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015
Entrez Id: 1355
Gene Symbol: COX15
COX15
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker CLINGEN Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models. 26039449

2015
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker CLINGEN Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencing. 25164807

2014
Entrez Id: 1352
Gene Symbol: COX10
COX10
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker CLINGEN COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood. 24100867

2013
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker CLINGEN SURF1-associated Leigh syndrome: a case series and novel mutations. 22488715

2012
Entrez Id: 1355
Gene Symbol: COX15
COX15
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker CLINGEN In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis. 21723506

2011
Entrez Id: 1352
Gene Symbol: COX10
COX10
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker 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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker 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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker 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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker CLINGEN Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. 15455402

2004
Entrez Id: 1355
Gene Symbol: COX15
COX15
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker 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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker 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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker CLINGEN Mitochondrial ferredoxin is required for heme A synthesis in Saccharomyces cerevisiae. 11788607

2002
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker CLINGEN Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. 10556302

1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker 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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker CLINGEN Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. 9837813

1998
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.400 Biomarker CLINGEN SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 9843204

1998