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 		0.510 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease CLINGEN Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I. 24717771 2014
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease CLINGEN Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 21617257 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease GENOMICS_ENGLAND Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 21617257 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease GENOMICS_ENGLAND Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 21617257 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 GeneticVariation disease BEFREE Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 21617257 2011