Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.500 Biomarker disease CLINGEN A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.500 Biomarker disease CLINGEN Glial lipid droplets and neurodegeneration in a Drosophila model of complex I deficiency. 29285794 2018
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9 		0.500 Biomarker disease CLINGEN NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. 28671271 2018
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.500 Biomarker disease CLINGEN Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles. 28683319 2017
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.500 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9 		0.500 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.500 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9 		0.500 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.500 Biomarker disease CLINGEN Mitochondrial NDUFS3 regulates the ROS-mediated onset of metabolic switch in transformed cells. 23519235 2013
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.500 Biomarker disease CLINGEN "NDUFS8-related Complex I Deficiency Extends Phenotype from ""PEO Plus"" to Leigh Syndrome." 23430795 2013
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9 		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
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9 		0.500 Biomarker disease CLINGEN Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105 2012
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9 		0.500 Biomarker disease GENOMICS_ENGLAND Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105 2012
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.500 Biomarker disease CLINGEN Understanding mitochondrial complex I assembly in health and disease. 21924235 2012
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.500 Biomarker disease CLINGEN Early complex I assembly defects result in rapid turnover of the ND1 subunit. 22653752 2012
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.500 Biomarker disease CLINGEN Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994 2012
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.500 Biomarker disease CLINGEN Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994 2012
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.500 Biomarker disease CLINGEN High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.500 Biomarker disease CLINGEN Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. 19672299 2009
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.500 Biomarker disease CLINGEN Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells. 18826940 2008
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.500 Biomarker disease CLINGEN Granzyme A cleaves a mitochondrial complex I protein to initiate caspase-independent cell death. 18485875 2008
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.500 Biomarker disease CLINGEN Progressive loss of dopaminergic neurons in the ventral midbrain of adult mice heterozygote for Engrailed1. 17267560 2007
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.500 Biomarker disease CLINGEN Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.500 Biomarker disease CLINGEN Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. 15159508 2004
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.500 Biomarker disease CLINGEN The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812 1998