Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748809
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 		0.600 Biomarker disease GENOMICS_ENGLAND NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. 28671271 2018
CUI: C4748809
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 		0.600 GeneticVariation disease UNIPROT NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. 28671271 2018
CUI: C4748809
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 		0.600 Biomarker disease GENOMICS_ENGLAND NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. 28671271 2018
CUI: C4748809
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 		0.600 GeneticVariation disease UNIPROT Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105 2012
CUI: C4748809
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 		0.600 Biomarker disease GENOMICS_ENGLAND Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105 2012
CUI: C4748809
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 		0.600 Biomarker disease GENOMICS_ENGLAND Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105 2012
CUI: C4748809
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 		0.600 Biomarker disease GENOMICS_ENGLAND Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105 2012
CUI: C4748809
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 		0.600 CausalMutation disease CLINVAR
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 Biomarker disease CLINGEN NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. 28671271 2018
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. 28671271 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 Biomarker disease CLINGEN Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I. 23223238 2013
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I. 23223238 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 Biomarker disease GENOMICS_ENGLAND Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 Biomarker disease GENOMICS_ENGLAND Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 Biomarker disease CLINGEN Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 Biomarker disease GENOMICS_ENGLAND Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105 2012
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105 2012
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease GENOMICS_ENGLAND Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105 2012
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. 28671271 2018
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker disease CLINGEN NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. 28671271 2018