Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.610 Biomarker disease CLINGEN Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice. 27319982 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.610 Biomarker disease CLINGEN Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. 25044680 2014
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.610 GeneticVariation disease BEFREE TACO1 analysis showed no mutations in 17 patients with juvenile-onset Leigh syndrome and isolated COX or combined respiratory chain deficiency, indicating that TACO1 mutations are a rare cause of Leigh syndrome. 20727754 2010
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.610 Biomarker disease CTD_human Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089 2009
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.610 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical and neuropathological findings in patients with TACO1 mutations. 20727754 2010
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.600 Biomarker disease CTD_human Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089 2009
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.600 GeneticVariation disease CLINVAR Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089 2009
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.600 CausalMutation disease CLINVAR
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.500 Biomarker disease CLINGEN Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice. 27319982 2016
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.500 Biomarker disease CLINGEN Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. 25044680 2014
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice. 27319982 2016
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice. 27319982 2016
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker disease CLINGEN Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice. 27319982 2016
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice. 27319982 2016
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice. 27319982 2016
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. 25044680 2014
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. 25044680 2014
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker disease CLINGEN Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. 25044680 2014