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