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
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 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 Structure of mammalian respiratory complex I. 27509854 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 Structure of mammalian respiratory complex I. 27509854 2016
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 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 Structure of mammalian respiratory complex I. 27509854 2016
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
CUI: C4748799
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 		0.300 Biomarker disease 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 Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I. 24717771 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 Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I. 24717771 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 Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I. 24717771 2014
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 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: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 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: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 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: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 21617257 2011
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 21617257 2011
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker disease CLINGEN Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 21617257 2011
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 21617257 2011
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 21617257 2011
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 21617257 2011