Disease: Leigh Disease ×
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