Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 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
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles. 28683319 2017
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN Mitochondrial NDUFS3 regulates the ROS-mediated onset of metabolic switch in transformed cells. 23519235 2013
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN Granzyme A cleaves a mitochondrial complex I protein to initiate caspase-independent cell death. 18485875 2008
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. 9878551 1998
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN Early complex I assembly defects result in rapid turnover of the ND1 subunit. 22653752 2012
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN Progressive loss of dopaminergic neurons in the ventral midbrain of adult mice heterozygote for Engrailed1. 17267560 2007
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells. 18826940 2008