Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 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